Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NC_000006.11:g.(?_56323793)_(56507596_?)dup | 667 | DST | Uncertain significance | -1 | RCV000809299; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323793 | 56507596 | | | | - | | |
NC_000006.12:g.(?_56458995)_(56642798_?)del | 667 | DST | Pathogenic | -1 | RCV001033643; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323793 | 56507596 | | | -1 | - | | |
NM_001374736.1(DST):c.23438del (p.Asp7813fs) | 667 | DST | Uncertain significance | -1 | RCV001367378; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323822 | 56323822 | | | 56323821 | - | | |
NM_001374736.1(DST):c.23437G>A (p.Asp7813Asn) | 667 | DST | Uncertain significance | rs956139209 | RCV001247638; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323823 | 56323823 | | | 6:g.56323823C>T | - | | |
NM_001374736.1(DST):c.23435T>G (p.Leu7812Trp) | 667 | DST | Uncertain significance | -1 | RCV001367243; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56323825 | 56323825 | | | 56323825 | - | | |
NM_001374736.1(DST):c.23433A>G (p.Lys7811=) | 667 | DST | Likely benign | -1 | RCV001474737; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323827 | 56323827 | | | 56323827 | - | | |
NM_001374736.1(DST):c.23432A>G (p.Lys7811Arg) | 667 | DST | Uncertain significance | rs201891015 | RCV001242561|RCV002402769; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56323828 | 56323828 | | | 6:g.56323828T>C | - | | |
NM_001374736.1(DST):c.23428_23429delinsCC (p.Ser7810Pro) | 667 | DST | Uncertain significance | -1 | RCV002725487; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323831 | 56323832 | | | NC_000006.11:g.56323831_56323832delinsGG | - | | |
NM_001374736.1(DST):c.23425G>C (p.Ala7809Pro) | 667 | DST | Uncertain significance | -1 | RCV001955668; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56323835 | 56323835 | | | 56323835 | - | | |
NM_001374736.1(DST):c.23415G>A (p.Arg7805=) | 667 | DST | Likely benign | -1 | RCV001490249; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323845 | 56323845 | | | 56323845 | - | | |
NM_001374736.1(DST):c.23406G>A (p.Thr7802=) | 667 | DST | Likely benign | -1 | RCV001411394; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323854 | 56323854 | | | 56323854 | - | | |
NM_001374736.1(DST):c.23405C>T (p.Thr7802Met) | 667 | DST | Uncertain significance | rs367598583 | RCV001245650|RCV002261324|RCV002411905; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 6 | 56323855 | 56323855 | | | 6:g.56323855G>A | - | | |
NM_001374736.1(DST):c.23402C>T (p.Pro7801Leu) | 667 | DST | Likely pathogenic | rs1242078669 | RCV000754750; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56323858 | 56323858 | | | NC_000006.11:g.56323858G>A | - | | |
NM_001374736.1(DST):c.23385G>A (p.Ala7795=) | 667 | DST | Likely benign | -1 | RCV001466797; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323875 | 56323875 | | | 56323875 | - | | |
NM_001374736.1(DST):c.23361A>G (p.Arg7787=) | 667 | DST | Likely benign | -1 | RCV001410536; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56323899 | 56323899 | | | 56323899 | - | | |
NM_001374736.1(DST):c.23360G>A (p.Arg7787Gln) | 667 | DST | Uncertain significance | -1 | RCV002015617|RCV002407271; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56323900 | 56323900 | | | 56323900 | - | | |
NM_001374736.1(DST):c.23353A>T (p.Thr7785Ser) | 667 | DST | Uncertain significance | -1 | RCV002780795; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323907 | 56323907 | | | NC_000006.11:g.56323907T>A | - | | |
NM_001374736.1(DST):c.23334C>G (p.Val7778=) | 667 | DST | Likely benign | -1 | RCV001428407; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323926 | 56323926 | | | 56323926 | - | | |
NM_001374736.1(DST):c.23321A>C (p.Asp7774Ala) | 667 | DST | Uncertain significance | -1 | RCV001887913; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323939 | 56323939 | | | 56323939 | - | | |
NM_001374736.1(DST):c.23311G>A (p.Val7771Met) | 667 | DST | Uncertain significance | -1 | RCV001359472|RCV002548536; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56323949 | 56323949 | | | 56323949 | - | | |
NM_001374736.1(DST):c.23310C>T (p.Ser7770=) | 667 | DST | Likely benign | -1 | RCV001448604; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323950 | 56323950 | | | 56323950 | - | | |
NM_001374736.1(DST):c.23306A>T (p.Gln7769Leu) | 667 | DST | Uncertain significance | -1 | RCV002653316; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323954 | 56323954 | | | NC_000006.11:g.56323954T>A | - | | |
NM_001374736.1(DST):c.23304C>A (p.Ile7768_Gln7769=) | 667 | DST | Likely benign | -1 | RCV003078301; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323956 | 56323956 | | | NC_000006.11:g.56323956G>T | - | | |
NM_001374736.1(DST):c.23264G>A (p.Arg7755His) | 667 | DST | Uncertain significance | -1 | RCV002004676|RCV002398004; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56323996 | 56323996 | | | 56323996 | - | | |
NM_001374736.1(DST):c.23263C>T (p.Arg7755Cys) | 667 | DST | Uncertain significance | rs868335418 | RCV001307740|RCV002402861; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56323997 | 56323997 | | | 56323997 | - | | |
NM_001374736.1(DST):c.23250C>T (p.Ser7750=) | 667 | DST | Likely benign | -1 | RCV002181469; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56324010 | 56324010 | | | 56324010 | - | | |
NM_001374736.1(DST):c.23234G>A (p.Gly7745Glu) | 667 | DST | Uncertain significance | -1 | RCV001968665; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56324026 | 56324026 | | | 56324026 | - | | |
NM_001374736.1(DST):c.23229A>G (p.Arg7743_Ala7744=) | 667 | DST | Uncertain significance | -1 | RCV002614699; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56324031 | 56324031 | | | NC_000006.11:g.56324031T>C | - | | |
NM_001374736.1(DST):c.23228G>A (p.Arg7743Gln) | 667 | DST | Uncertain significance | rs762220017 | RCV001357327|RCV001244951|RCV002568607; | N | MedGen:CN169374|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56324032 | 56324032 | | | 6:g.56324032C>T | - | | |
NM_001374736.1(DST):c.23220A>T (p.Pro7740=) | 667 | DST | Likely benign | -1 | RCV001435076; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56324040 | 56324040 | | | 56324040 | - | | |
NM_001374736.1(DST):c.23205G>T (p.Lys7735Asn) | 667 | DST | Uncertain significance | rs1476392770 | RCV001245796|RCV002402781; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56324055 | 56324055 | | | 6:g.56324055C>A | - | | |
NM_001374736.1(DST):c.23201A>T (p.Lys7734Met) | 667 | DST | Uncertain significance | rs1168581623 | RCV001248043; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56324059 | 56324059 | | | 6:g.56324059T>A | - | | |
NM_001374736.1(DST):c.23195A>T (p.Asp7732Val) | 667 | DST | Uncertain significance | rs2094197198 | RCV001241870; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56324065 | 56324065 | | | 6:g.56324065T>A | - | | |
NM_001374736.1(DST):c.23195-6C>T | 667 | DST | Conflicting interpretations of pathogenicity | -1 | RCV002405938|RCV003097099; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56324071 | 56324071 | | | 56324071 | - | | |
NM_001374736.1(DST):c.23195-8T>C | 667 | DST | Likely benign | -1 | RCV001419149; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56324073 | 56324073 | | | 56324073 | - | | |
NM_001374736.1(DST):c.23195-16T>C | 667 | DST | Uncertain significance | -1 | RCV002593872; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56324081 | 56324081 | | | NC_000006.11:g.56324081A>G | - | | |
NM_001374736.1(DST):c.23194+19T>A | 667 | DST | Likely benign | -1 | RCV002190947; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56324910 | 56324910 | | | 56324910 | - | | |
NM_001374736.1(DST):c.23194+5G>C | 667 | DST | Uncertain significance | -1 | RCV003081449; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56324924 | 56324924 | | | NC_000006.11:g.56324924C>G | - | | |
NM_001374736.1(DST):c.23194+5G>A | 667 | DST | Uncertain significance | -1 | RCV003058023; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56324924 | 56324924 | | | NC_000006.11:g.56324924C>T | - | | |
NM_001374736.1(DST):c.23187G>A (p.Gln7729=) | 667 | DST | Benign | -1 | RCV001514458; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56324936 | 56324936 | | | 56324936 | - | | |
NM_001374736.1(DST):c.23183C>T (p.Thr7728Ile) | 667 | DST | Uncertain significance | -1 | RCV001365782; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56324940 | 56324940 | | | 56324940 | - | | |
NM_001374736.1(DST):c.23173A>G (p.Arg7725Gly) | 667 | DST | Uncertain significance | -1 | RCV001969614; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56324950 | 56324950 | | | 56324950 | - | | |
NM_001374736.1(DST):c.23157A>G (p.Ile7719Met) | 667 | DST | Uncertain significance | -1 | RCV003077753; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56324966 | 56324966 | | | NC_000006.11:g.56324966T>C | - | | |
NM_001374736.1(DST):c.23155A>T (p.Ile7719Leu) | 667 | DST | Uncertain significance | -1 | RCV002740681; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56324968 | 56324968 | | | NC_000006.11:g.56324968T>A | - | | |
NM_001374736.1(DST):c.23146A>G (p.Ser7716Gly) | 667 | DST | Uncertain significance | -1 | RCV002405853|RCV003100783; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56324977 | 56324977 | | | 56324977 | - | | |
NM_001374736.1(DST):c.23144A>G (p.Asp7715Gly) | 667 | DST | Uncertain significance | -1 | RCV002770735; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56324979 | 56324979 | | | NC_000006.11:g.56324979T>C | - | | |
NM_001374736.1(DST):c.23141A>C (p.Glu7714Ala) | 667 | DST | Uncertain significance | -1 | RCV002023189; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56324982 | 56324982 | | | 56324982 | - | | |
NM_001374736.1(DST):c.23109A>T (p.Gly7703_Tyr7704=) | 667 | DST | Uncertain significance | -1 | RCV002616538; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56325014 | 56325014 | | | NC_000006.11:g.56325014T>A | - | | |
NM_001374736.1(DST):c.23099G>A (p.Arg7700Gln) | 667 | DST | Uncertain significance | -1 | RCV003077792; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56325024 | 56325024 | | | NC_000006.11:g.56325024C>T | - | | |
NM_001374736.1(DST):c.23094G>A (p.Lys7698=) | 667 | DST | Likely benign | -1 | RCV001422114; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56325029 | 56325029 | | | 56325029 | - | | |
NM_001374736.1(DST):c.23093A>G (p.Lys7698Arg) | 667 | DST | Uncertain significance | rs2094258869 | RCV001239928; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56325030 | 56325030 | | | 6:g.56325030T>C | - | | |
NM_001374736.1(DST):c.23090G>A (p.Ser7697Asn) | 667 | DST | Uncertain significance | rs1337269536 | RCV001347750; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56325033 | 56325033 | | | 56325033 | - | | |
NM_001374736.1(DST):c.23079A>G (p.Pro7693=) | 667 | DST | Likely benign | -1 | RCV001418027; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56325044 | 56325044 | | | 56325044 | - | | |
NM_001374736.1(DST):c.23076G>A (p.Thr7692=) | 667 | DST | Likely benign | -1 | RCV001490647; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56325047 | 56325047 | | | 56325047 | - | | |
NM_001374736.1(DST):c.23075C>T (p.Thr7692Met) | 667 | DST | Uncertain significance | -1 | RCV001924304|RCV002388862; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56325048 | 56325048 | | | 56325048 | - | | |
NM_001374736.1(DST):c.23071-2A>G | 667 | DST | Likely pathogenic | -1 | RCV001976172; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56325054 | 56325054 | | | 56325054 | - | | |
NM_001374736.1(DST):c.23071-18G>A | 667 | DST | Likely benign | -1 | RCV002167555; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56325070 | 56325070 | | | 56325070 | - | | |
NM_001374736.1(DST):c.23070+7T>G | 667 | DST | Likely benign | -1 | RCV002157630; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56327837 | 56327837 | | | 56327837 | - | | |
NM_001374736.1(DST):c.23065G>A (p.Ala7689Thr) | 667 | DST | Benign | -1 | RCV001510452|RCV001664906|RCV001664907; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121 | 6 | 56327849 | 56327849 | | | 56327849 | - | | |
NM_001374736.1(DST):c.23061A>T (p.Pro7687=) | 667 | DST | Likely benign | -1 | RCV001451925; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56327853 | 56327853 | | | 56327853 | - | | |
NM_001374736.1(DST):c.23058G>A (p.Val7686=) | 667 | DST | Benign/Likely benign | -1 | RCV001510454|RCV001732192; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56327856 | 56327856 | | | 56327856 | - | | |
NM_001374736.1(DST):c.23056G>A (p.Val7686Met) | 667 | DST | Uncertain significance | rs774799170 | RCV000803193; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56327858 | 56327858 | | | 6:g.56327858C>T | - | | |
NM_001374736.1(DST):c.23055C>T (p.Pro7685_Val7686=) | 667 | DST | Likely benign | rs201991278 | RCV000979603; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56327859 | 56327859 | | | 6:g.56327859G>A | - | | |
NM_001374736.1(DST):c.23035G>T (p.Ala7679Ser) | 667 | DST | Conflicting interpretations of pathogenicity | rs201138592 | RCV000578982|RCV000980803; | N | MedGen:CN169374|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56327879 | 56327879 | | | 6:g.56327879C>A | ClinGen:CA3866063 | CN169374 not specified; | |
NM_001374736.1(DST):c.23025T>C (p.Pro7675=) | 667 | DST | Likely benign | -1 | RCV002198289; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56327889 | 56327889 | | | 56327889 | - | | |
NM_001374736.1(DST):c.23022T>A (p.Thr7674=) | 667 | DST | Likely benign | -1 | RCV001405651; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56327892 | 56327892 | | | 56327892 | - | | |
NM_001374736.1(DST):c.23016G>A (p.Met7672Ile) | 667 | DST | Uncertain significance | -1 | RCV001924415; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56327898 | 56327898 | | | 56327898 | - | | |
NM_001374736.1(DST):c.23015T>C (p.Met7672Thr) | 667 | DST | Uncertain significance | rs751377992 | RCV001342824; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56327899 | 56327899 | | | 56327899 | - | | |
NM_001374736.1(DST):c.22997G>C (p.Trp7666Ser) | 667 | DST | Uncertain significance | rs1035396080 | RCV001239035; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56327917 | 56327917 | | | 6:g.56327917C>G | - | | |
NM_001374736.1(DST):c.22993C>G (p.Pro7665Ala) | 667 | DST | Uncertain significance | -1 | RCV001986538; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56327921 | 56327921 | | | 56327921 | - | | |
NM_001374736.1(DST):c.22987G>T (p.Gly7663Cys) | 667 | DST | Uncertain significance | rs1426250382 | RCV001239804; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56327927 | 56327927 | | | 6:g.56327927C>A | - | | |
NM_001374736.1(DST):c.22982A>G (p.Asn7661Ser) | 667 | DST | Uncertain significance | -1 | RCV001992722; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56327932 | 56327932 | | | 56327932 | - | | |
NM_001374736.1(DST):c.22979G>A (p.Arg7660His) | 667 | DST | Uncertain significance | rs746310021 | RCV000822745|RCV002390702; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56327935 | 56327935 | | | 6:g.56327935C>T | - | | |
NM_001374736.1(DST):c.22978C>T (p.Arg7660Cys) | 667 | DST | Uncertain significance | -1 | RCV001949891|RCV002397926; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56327936 | 56327936 | | | 56327936 | - | | |
NM_001374736.1(DST):c.22975A>T (p.Thr7659Ser) | 667 | DST | Uncertain significance | -1 | RCV002846464; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56327939 | 56327939 | | | NC_000006.11:g.56327939T>A | - | | |
NM_001374736.1(DST):c.22964T>C (p.Leu7655Pro) | 667 | DST | Uncertain significance | rs375019954 | RCV001248466; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56327950 | 56327950 | | | 6:g.56327950A>G | - | | |
NM_001374736.1(DST):c.22963C>T (p.Leu7655Phe) | 667 | DST | Uncertain significance | -1 | RCV001363464; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56327951 | 56327951 | | | 56327951 | - | | |
NM_001374736.1(DST):c.22960-8C>T | 667 | DST | Likely benign | -1 | RCV002129484; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56327962 | 56327962 | | | 56327962 | - | | |
NM_001374736.1(DST):c.22959+18G>A | 667 | DST | Uncertain significance | -1 | RCV003077794; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328345 | 56328345 | | | NC_000006.11:g.56328345C>T | - | | |
NM_001374736.1(DST):c.22959+3A>G | 667 | DST | Uncertain significance | rs375303601 | RCV001239595|RCV001699523|RCV002393612; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 6 | 56328360 | 56328360 | | | 6:g.56328360T>C | - | | |
NM_001374736.1(DST):c.22959+1G>A | 667 | DST | Likely pathogenic | rs2094441686 | RCV001241867; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56328362 | 56328362 | | | 6:g.56328362C>T | - | | |
NM_001374736.1(DST):c.22955C>T (p.Pro7652Leu) | 667 | DST | Uncertain significance | -1 | RCV001371560; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328367 | 56328367 | | | 56328367 | - | | |
NM_001374736.1(DST):c.22950C>A (p.Thr7650=) | 667 | DST | Likely benign | -1 | RCV002085724; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56328372 | 56328372 | | | 56328372 | - | | |
NM_001374736.1(DST):c.22939C>T (p.Pro7647Ser) | 667 | DST | Uncertain significance | rs201952309 | RCV001241383|RCV002402764; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56328383 | 56328383 | | | 6:g.56328383G>A | - | | |
NM_001374736.1(DST):c.22934A>T (p.Gln7645Leu) | 667 | DST | Uncertain significance | rs2094442685 | RCV001339140; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56328388 | 56328388 | | | 56328388 | - | | |
NM_001374736.1(DST):c.22932A>C (p.Pro7644_Gln7645=) | 667 | DST | Benign | rs374094129 | RCV000981885; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56328390 | 56328390 | | | 6:g.56328390T>G | - | | |
NM_001374736.1(DST):c.22922C>T (p.Ala7641Val) | 667 | DST | Uncertain significance | rs750916776 | RCV001299771; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328400 | 56328400 | | | 56328400 | - | | |
NM_001374736.1(DST):c.22917G>A (p.Ala7639=) | 667 | DST | Likely benign | -1 | RCV001435550; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328405 | 56328405 | | | 56328405 | - | | |
NM_001374736.1(DST):c.22916C>T (p.Ala7639Val) | 667 | DST | Conflicting interpretations of pathogenicity | rs201429821 | RCV000979588|RCV001081929; | N | MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56328406 | 56328406 | | | 6:g.56328406G>A | - | | |
NM_001374736.1(DST):c.22896T>C (p.Thr7632_Ser7633=) | 667 | DST | Benign/Likely benign | rs200781365 | RCV000979093|RCV001699496; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56328426 | 56328426 | | | 6:g.56328426A>G | - | | |
NM_001374736.1(DST):c.22893C>T (p.Ser7631=) | 667 | DST | Likely benign | -1 | RCV001465132; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56328429 | 56328429 | | | 56328429 | - | | |
NM_001374736.1(DST):c.22887C>T (p.Asn7629_Arg7630=) | 667 | DST | Uncertain significance | -1 | RCV003081630; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56328435 | 56328435 | | | NC_000006.11:g.56328435G>A | - | | |
NM_001374736.1(DST):c.22886A>G (p.Asn7629Ser) | 667 | DST | Uncertain significance | rs1270972086 | RCV001239513|RCV002402756; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56328436 | 56328436 | | | 6:g.56328436T>C | - | | |
NM_001374736.1(DST):c.22875C>A (p.Gly7625=) | 667 | DST | Likely benign | -1 | RCV002150875; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56328447 | 56328447 | | | 56328447 | - | | |
NM_001374736.1(DST):c.22863A>C (p.Pro7621=) | 667 | DST | Likely benign | -1 | RCV002111511; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56328459 | 56328459 | | | 56328459 | - | | |
NM_001374736.1(DST):c.22857C>G (p.Ser7619=) | 667 | DST | Likely benign | -1 | RCV001431543; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328465 | 56328465 | | | 56328465 | - | | |
NM_001374736.1(DST):c.22850G>T (p.Arg7617Leu) | 667 | DST | Uncertain significance | -1 | RCV002609715; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56328472 | 56328472 | | | NC_000006.11:g.56328472C>A | - | | |
NM_001374736.1(DST):c.22849C>G (p.Arg7617Gly) | 667 | DST | Uncertain significance | rs2094446184 | RCV001301383; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328473 | 56328473 | | | 56328473 | - | | |
NM_001374736.1(DST):c.22844G>A (p.Arg7615Gln) | 667 | DST | Uncertain significance | -1 | RCV001369142; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328478 | 56328478 | | | 56328478 | - | | |
NM_001374736.1(DST):c.22843C>T (p.Arg7615Ter) | 667 | DST | Pathogenic | rs948596983 | RCV001247773; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328479 | 56328479 | | | 6:g.56328479G>A | - | | |
NM_001374736.1(DST):c.22838G>A (p.Arg7613Gln) | 667 | DST | Uncertain significance | -1 | RCV001988899; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328484 | 56328484 | | | 56328484 | - | | |
NM_001374736.1(DST):c.22826T>C (p.Met7609Thr) | 667 | DST | Uncertain significance | -1 | RCV001926393; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328496 | 56328496 | | | 56328496 | - | | |
NM_001374736.1(DST):c.22822G>T (p.Gly7608Cys) | 667 | DST | Uncertain significance | rs753485138 | RCV001242889|RCV001335760; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328500 | 56328500 | | | 6:g.56328500C>A | - | | |
NM_001374736.1(DST):c.22811G>A (p.Gly7604Asp) | 667 | DST | Uncertain significance | -1 | RCV001947790|RCV002397911; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56328511 | 56328511 | | | 56328511 | - | | |
NM_001374736.1(DST):c.22810G>A (p.Gly7604Ser) | 667 | DST | Uncertain significance | -1 | RCV002861360; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328512 | 56328512 | | | NC_000006.11:g.56328512C>T | - | | |
NM_001374736.1(DST):c.22805C>T (p.Ala7602Val) | 667 | DST | Uncertain significance | rs375687689 | RCV001242957; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56328517 | 56328517 | | | 6:g.56328517G>A | - | | |
NM_001374736.1(DST):c.22798A>G (p.Ile7600Val) | 667 | DST | Uncertain significance | -1 | RCV001944571; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328524 | 56328524 | | | 56328524 | - | | |
NM_001374736.1(DST):c.22787G>A (p.Arg7596His) | 667 | DST | Uncertain significance | rs746750215 | RCV001240859; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328535 | 56328535 | | | 6:g.56328535C>T | - | | |
NM_001374736.1(DST):c.22786C>T (p.Arg7596Cys) | 667 | DST | Uncertain significance | -1 | RCV002003242; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328536 | 56328536 | | | 56328536 | - | | |
NM_001374736.1(DST):c.22784T>C (p.Leu7595Pro) | 667 | DST | Uncertain significance | -1 | RCV003021344; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328538 | 56328538 | | | NC_000006.11:g.56328538A>G | - | | |
NM_001374736.1(DST):c.22764A>G (p.Lys7588=) | 667 | DST | Likely benign | -1 | RCV001394181; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328558 | 56328558 | | | 56328558 | - | | |
NM_001374736.1(DST):c.22760-15G>A | 667 | DST | Uncertain significance | -1 | RCV003027229; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328577 | 56328577 | | | NC_000006.11:g.56328577C>T | - | | |
NM_001374736.1(DST):c.22720G>T (p.Glu7574Ter) | 667 | DST | Pathogenic | -1 | RCV001775447; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56329522 | 56329522 | | | 56329522 | - | | |
NM_001374736.1(DST):c.22687+18A>G | 667 | DST | Likely benign | -1 | RCV002107758; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56330858 | 56330858 | | | 56330858 | - | | |
NM_001374736.1(DST):c.22687+15A>C | 667 | DST | Benign | -1 | RCV002185765; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56330861 | 56330861 | | | 56330861 | - | | |
NC_000006.11:g.56330866-?_56331003+?del | 667 | DST | Pathogenic | -1 | RCV001390146; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56330866 | 56330866 | | | -1 | - | | |
NM_001374736.1(DST):c.22643G>A (p.Trp7548Ter) | 667 | DST | Pathogenic | -1 | RCV002834877; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56330920 | 56330920 | | | NC_000006.11:g.56330920C>T | - | | |
NM_001374736.1(DST):c.22642T>A (p.Trp7548Arg) | 667 | DST | Uncertain significance | rs2094566911 | RCV001304824; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56330921 | 56330921 | | | 56330921 | - | | |
NM_001374736.1(DST):c.22601G>A (p.Arg7534Gln) | 667 | DST | Uncertain significance | rs1255175152 | RCV001243300; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56330962 | 56330962 | | | 6:g.56330962C>T | - | | |
NM_001374736.1(DST):c.22593A>T (p.Arg7531=) | 667 | DST | Likely benign | -1 | RCV001488991; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56330970 | 56330970 | | | 56330970 | - | | |
NM_001374736.1(DST):c.22593A>G (p.Arg7531=) | 667 | DST | Likely benign | -1 | RCV002115423; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56330970 | 56330970 | | | 56330970 | - | | |
NM_001374736.1(DST):c.22584G>A (p.Gln7528=) | 667 | DST | Likely benign | -1 | RCV002196485; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56330979 | 56330979 | | | 56330979 | - | | |
NM_001374736.1(DST):c.22570-4A>G | 667 | DST | Uncertain significance | rs199834581 | RCV000804073; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56330997 | 56330997 | | | 6:g.56330997T>C | - | | |
NM_001374736.1(DST):c.22570-17C>G | 667 | DST | Benign | -1 | RCV002118134; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56331010 | 56331010 | | | 56331010 | - | | |
NM_001374736.1(DST):c.22570-20T>G | 667 | DST | Uncertain significance | -1 | RCV003081114; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56331013 | 56331013 | | | NC_000006.11:g.56331013A>C | - | | |
NM_001374736.1(DST):c.22569+20A>G | 667 | DST | Uncertain significance | -1 | RCV003023451; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56333760 | 56333760 | | | NC_000006.11:g.56333760T>C | - | | |
NM_001374736.1(DST):c.22569+2T>C | 667 | DST | Likely pathogenic | -1 | RCV003024696; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56333778 | 56333778 | | | NC_000006.11:g.56333778A>G | - | | |
NM_001374736.1(DST):c.22558C>T (p.Leu7520=) | 667 | DST | Likely benign | -1 | RCV002161740; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56333791 | 56333791 | | | 56333791 | - | | |
NM_001374736.1(DST):c.22552-20C>A | 667 | DST | Likely benign | -1 | RCV002603612; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56333817 | 56333817 | | | NC_000006.11:g.56333817G>T | - | | |
NM_001374736.1(DST):c.22551+18T>A | 667 | DST | Likely benign | -1 | RCV003081450; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56334663 | 56334663 | | | NC_000006.11:g.56334663A>T | - | | |
NM_001374736.1(DST):c.22551+16A>G | 667 | DST | Likely benign | -1 | RCV002144748; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56334665 | 56334665 | | | 56334665 | - | | |
NM_001374736.1(DST):c.22551+8T>C | 667 | DST | Likely benign | -1 | RCV001470711; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56334673 | 56334673 | | | 56334673 | - | | |
NM_001374736.1(DST):c.22530G>C (p.Gln7510His) | 667 | DST | Uncertain significance | rs750236520 | RCV001242697|RCV002393628; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56334702 | 56334702 | | | 6:g.56334702C>G | - | | |
NM_001374736.1(DST):c.22523T>C (p.Val7508Ala) | 667 | DST | Uncertain significance | -1 | RCV003029115; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56334709 | 56334709 | | | NC_000006.11:g.56334709A>G | - | | |
NM_001374736.1(DST):c.22484G>T (p.Arg7495Met) | 667 | DST | Uncertain significance | -1 | RCV001933675; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56334748 | 56334748 | | | 56334748 | - | | |
NM_001374736.1(DST):c.22479G>A (p.Val7493_Thr7494=) | 667 | DST | Likely benign | -1 | RCV003078874; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56334753 | 56334753 | | | NC_000006.11:g.56334753C>T | - | | |
NM_001374736.1(DST):c.22477-14A>G | 667 | DST | Likely benign | -1 | RCV002084279; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56334769 | 56334769 | | | 56334769 | - | | |
NM_001374736.1(DST):c.22476+19T>C | 667 | DST | Uncertain significance | -1 | RCV003072486; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56334907 | 56334907 | | | NC_000006.11:g.56334907A>G | - | | |
NM_001374736.1(DST):c.22476+1G>A | 667 | DST | Likely pathogenic | -1 | RCV002021742; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56334925 | 56334925 | | | 56334925 | - | | |
NM_001374736.1(DST):c.22470A>G (p.Glu7490=) | 667 | DST | Likely benign | -1 | RCV002120260; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56334932 | 56334932 | | | 56334932 | - | | |
NM_001374736.1(DST):c.22467C>T (p.Ile7489=) | 667 | DST | Likely benign | -1 | RCV001398630; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56334935 | 56334935 | | | 56334935 | - | | |
NM_001374736.1(DST):c.22458C>T (p.Ala7486_Asp7487=) | 667 | DST | Likely benign | rs554828969 | RCV000979884; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56334944 | 56334944 | | | 6:g.56334944G>A | - | | |
NM_001374736.1(DST):c.22455T>C (p.Asp7485=) | 667 | DST | Likely benign | -1 | RCV001440621; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56334947 | 56334947 | | | 56334947 | - | | |
NM_001374736.1(DST):c.22429A>G (p.Lys7477Glu) | 667 | DST | Uncertain significance | -1 | RCV001989195; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56334973 | 56334973 | | | 56334973 | - | | |
NM_001374736.1(DST):c.22414G>A (p.Ala7472Thr) | 667 | DST | Uncertain significance | -1 | RCV002812158; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56334988 | 56334988 | | | NC_000006.11:g.56334988C>T | - | | |
NM_001374736.1(DST):c.22413A>C (p.Ala7471=) | 667 | DST | Likely benign | -1 | RCV001490198; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56334989 | 56334989 | | | 56334989 | - | | |
NM_001374736.1(DST):c.22408G>A (p.Val7470Ile) | 667 | DST | Uncertain significance | -1 | RCV003088458; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56334994 | 56334994 | | | NC_000006.11:g.56334994C>T | - | | |
NM_001374736.1(DST):c.22383T>A (p.Asp7461Glu) | 667 | DST | Uncertain significance | -1 | RCV001892906; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56335019 | 56335019 | | | 56335019 | - | | |
NM_001374736.1(DST):c.22380C>T (p.Gly7460=) | 667 | DST | Uncertain significance | -1 | RCV001935565; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56335022 | 56335022 | | | 56335022 | - | | |
NM_001374736.1(DST):c.22377T>C (p.Asp7459=) | 667 | DST | Likely benign | -1 | RCV002102523; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56335025 | 56335025 | | | 56335025 | - | | |
NM_001374736.1(DST):c.22363A>G (p.Ile7455Val) | 667 | DST | Uncertain significance | -1 | RCV001931362|RCV002397937; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56335039 | 56335039 | | | 56335039 | - | | |
NM_001374736.1(DST):c.22359A>C (p.Ala7453=) | 667 | DST | Likely benign | -1 | RCV002199346; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56335043 | 56335043 | | | 56335043 | - | | |
NM_001374736.1(DST):c.22351G>A (p.Ala7451Thr) | 667 | DST | Uncertain significance | -1 | RCV001995705; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56335051 | 56335051 | | | 56335051 | - | | |
NM_001374736.1(DST):c.22350C>T (p.Ser7450=) | 667 | DST | Likely benign | -1 | RCV002104631; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56335052 | 56335052 | | | 56335052 | - | | |
NM_001374736.1(DST):c.22338C>T (p.Arg7446=) | 667 | DST | Likely benign | -1 | RCV002183068; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56335064 | 56335064 | | | 56335064 | - | | |
NM_001374736.1(DST):c.22337G>A (p.Arg7446His) | 667 | DST | Uncertain significance | rs768427386 | RCV001241058; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56335065 | 56335065 | | | 6:g.56335065C>T | - | | |
NM_001374736.1(DST):c.22322-20C>T | 667 | DST | Likely benign | -1 | RCV002209946; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56335100 | 56335100 | | | 56335100 | - | | |
NM_001374736.1(DST):c.22321+13A>G | 667 | DST | Benign | -1 | RCV002129798; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56335891 | 56335891 | | | 56335891 | - | | |
NM_001374736.1(DST):c.22318T>A (p.Ser7440Thr) | 667 | DST | Uncertain significance | -1 | RCV002010601; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56335907 | 56335907 | | | 56335907 | - | | |
NM_001374736.1(DST):c.22312C>A (p.Leu7438Ile) | 667 | DST | Uncertain significance | -1 | RCV001905866; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56335913 | 56335913 | | | 56335913 | - | | |
NM_001374736.1(DST):c.22305T>C (p.Asp7435_Gly7436=) | 667 | DST | Benign/Likely benign | rs114094997 | RCV000979025|RCV001766801; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56335920 | 56335920 | | | 6:g.56335920A>G | - | | |
NM_001374736.1(DST):c.22299T>C (p.Phe7433_Ile7434=) | 667 | DST | Uncertain significance | -1 | RCV003077786; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56335926 | 56335926 | | | NC_000006.11:g.56335926A>G | - | | |
NM_001374736.1(DST):c.22288C>T (p.Arg7430Trp) | 667 | DST | Uncertain significance | -1 | RCV001362450|RCV002404857; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56335937 | 56335937 | | | 56335937 | - | | |
NM_001374736.1(DST):c.22287G>A (p.Thr7429=) | 667 | DST | Likely benign | -1 | RCV001460946; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56335938 | 56335938 | | | 56335938 | - | | |
NM_001374736.1(DST):c.22286C>T (p.Thr7429Met) | 667 | DST | Uncertain significance | -1 | RCV001925517; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56335939 | 56335939 | | | 56335939 | - | | |
NM_001374736.1(DST):c.22251C>T (p.Phe7417=) | 667 | DST | Likely benign | -1 | RCV001446879; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56335974 | 56335974 | | | 56335974 | - | | |
NM_001374736.1(DST):c.22248C>T (p.Phe7416=) | 667 | DST | Likely benign | -1 | RCV001450492; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56335977 | 56335977 | | | 56335977 | - | | |
NM_001374736.1(DST):c.22206C>T (p.Tyr7402_Met7403=) | 667 | DST | Uncertain significance | -1 | RCV003061389; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56336019 | 56336019 | | | NC_000006.11:g.56336019G>A | - | | |
NM_001374736.1(DST):c.22203dup (p.Tyr7402fs) | 667 | DST | Pathogenic | -1 | RCV002613731; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56336021 | 56336022 | | | NC_000006.11:g.56336027dup | - | | |
NM_001374736.1(DST):c.22195C>T (p.Arg7399Cys) | 667 | DST | Conflicting interpretations of pathogenicity | -1 | RCV001408343|RCV002261358; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56336030 | 56336030 | | | 56336030 | - | | |
NM_001374736.1(DST):c.22171G>A (p.Ala7391Thr) | 667 | DST | Uncertain significance | rs772254325 | RCV001307541; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56336054 | 56336054 | | | 56336054 | - | | |
NM_001374736.1(DST):c.22171G>T (p.Ala7391Ser) | 667 | DST | Uncertain significance | -1 | RCV001373630; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56336054 | 56336054 | | | 56336054 | - | | |
NM_001374736.1(DST):c.22164G>T (p.Arg7388Ser) | 667 | DST | Uncertain significance | -1 | RCV001950706; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56336061 | 56336061 | | | 56336061 | - | | |
NM_001374736.1(DST):c.22158+20C>G | 667 | DST | Uncertain significance | -1 | RCV002630521; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56336837 | 56336837 | | | NC_000006.11:g.56336837G>C | - | | |
NM_001374736.1(DST):c.22141T>C (p.Leu7381_Asp7382=) | 667 | DST | Uncertain significance | -1 | RCV002642840; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56336874 | 56336874 | | | NC_000006.11:g.56336874A>G | - | | |
NM_001374736.1(DST):c.22134T>C (p.Asn7378=) | 667 | DST | Likely benign | -1 | RCV001432895; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56336881 | 56336881 | | | 56336881 | - | | |
NM_001374736.1(DST):c.22133A>G (p.Asn7378Ser) | 667 | DST | Uncertain significance | rs763569325 | RCV001248119; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56336882 | 56336882 | | | 6:g.56336882T>C | - | | |
NM_001374736.1(DST):c.22131C>T (p.Leu7377=) | 667 | DST | Likely benign | -1 | RCV002131010; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56336884 | 56336884 | | | 56336884 | - | | |
NM_001374736.1(DST):c.22121G>A (p.Arg7374Lys) | 667 | DST | Uncertain significance | rs2094926732 | RCV001240992; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56336894 | 56336894 | | | 6:g.56336894C>T | - | | |
NM_001374736.1(DST):c.22119A>G (p.Arg7373_Arg7374=) | 667 | DST | Benign | rs192453671 | RCV000979598; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56336896 | 56336896 | | | 6:g.56336896T>C | - | | |
NM_001374736.1(DST):c.22110G>A (p.Ala7370=) | 667 | DST | Likely benign | -1 | RCV002127064; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56336905 | 56336905 | | | 56336905 | - | | |
NM_001374736.1(DST):c.22069A>G (p.Asn7357Asp) | 667 | DST | Uncertain significance | rs2094927912 | RCV001323012; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56336946 | 56336946 | | | 56336946 | - | | |
NM_001374736.1(DST):c.22060C>T (p.Pro7354Ser) | 667 | DST | Uncertain significance | -1 | RCV001507668|RCV002564211; | N | MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56336955 | 56336955 | | | 56336955 | - | | |
NM_001374736.1(DST):c.22057A>G (p.Asn7353Asp) | 667 | DST | Uncertain significance | rs371310558 | RCV001242501|RCV002402768; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56336958 | 56336958 | | | 6:g.56336958T>C | - | | |
NM_001374736.1(DST):c.22016G>C (p.Ser7339Thr) | 667 | DST | Uncertain significance | -1 | RCV002039786; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56336999 | 56336999 | | | 56336999 | - | | |
NM_001374736.1(DST):c.22005_22006insAT (p.Pro7336fs) | 667 | DST | Pathogenic | rs2094929531 | RCV001245997; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56337009 | 56337010 | | | 6:g.56337009_56337010insAT | - | | |
NM_001374736.1(DST):c.22000C>T (p.Arg7334Cys) | 667 | DST | Uncertain significance | rs769938845 | RCV001248117; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56337015 | 56337015 | | | 6:g.56337015G>A | - | | |
NM_001374736.1(DST):c.21999A>C (p.Lys7333Asn) | 667 | DST | Uncertain significance | -1 | RCV001973244; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56337016 | 56337016 | | | 56337016 | - | | |
NM_001374736.1(DST):c.21995-9C>A | 667 | DST | Uncertain significance | -1 | RCV003031991; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56337029 | 56337029 | | | NC_000006.11:g.56337029G>T | - | | |
NM_001374736.1(DST):c.21995-10A>G | 667 | DST | Likely benign | -1 | RCV003090595; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56337030 | 56337030 | | | NC_000006.11:g.56337030T>C | - | | |
NM_001374736.1(DST):c.21995-18G>C | 667 | DST | Benign/Likely benign | -1 | RCV002118115|RCV002243522; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56337038 | 56337038 | | | 56337038 | - | | |
NM_001374736.1(DST):c.21995-18G>A | 667 | DST | Benign | -1 | RCV002122467; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56337038 | 56337038 | | | 56337038 | - | | |
NM_001374736.1(DST):c.21995-19C>T | 667 | DST | Uncertain significance | -1 | RCV003071584; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56337039 | 56337039 | | | NC_000006.11:g.56337039G>A | - | | |
NM_001374736.1(DST):c.21994+13C>T | 667 | DST | Uncertain significance | -1 | RCV003077796; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56338658 | 56338658 | | | NC_000006.11:g.56338658G>A | - | | |
NM_001374736.1(DST):c.21992G>A (p.Gly7331Glu) | 667 | DST | Uncertain significance | rs781156041 | RCV001240219; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56338673 | 56338673 | | | 6:g.56338673C>T | - | | |
NM_001374736.1(DST):c.21985C>T (p.Arg7329Ter) | 667 | DST | Pathogenic | -1 | RCV001994750|RCV002398009; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56338680 | 56338680 | | | 56338680 | - | | |
NM_001374736.1(DST):c.21972C>T (p.Val7324=) | 667 | DST | Likely benign | -1 | RCV001411957; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56338693 | 56338693 | | | 56338693 | - | | |
NM_001374736.1(DST):c.21967C>A (p.Pro7323Thr) | 667 | DST | Uncertain significance | -1 | RCV003060964; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56338698 | 56338698 | | | NC_000006.11:g.56338698G>T | - | | |
NM_001374736.1(DST):c.21955C>G (p.Gln7319Glu) | 667 | DST | Uncertain significance | rs749377991 | RCV001239660; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56338710 | 56338710 | | | 6:g.56338710G>C | - | | |
NM_001374736.1(DST):c.21951A>G (p.Ser7317_Leu7318=) | 667 | DST | Likely benign | rs1306326928 | RCV000982789|RCV001505084; | N | MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56338714 | 56338714 | | | 6:g.56338714T>C | - | | |
NM_001374736.1(DST):c.21943C>T (p.Pro7315Ser) | 667 | DST | Uncertain significance | -1 | RCV001927551; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56338722 | 56338722 | | | 56338722 | - | | |
NM_001374736.1(DST):c.21915G>A (p.Thr7305=) | 667 | DST | Likely benign | -1 | RCV001487210; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56338750 | 56338750 | | | 56338750 | - | | |
NM_001374736.1(DST):c.21910G>A (p.Val7304Ile) | 667 | DST | Uncertain significance | -1 | RCV002933828; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56338755 | 56338755 | | | NC_000006.11:g.56338755C>T | - | | |
NM_001374736.1(DST):c.21898G>A (p.Asp7300Asn) | 667 | DST | Uncertain significance | -1 | RCV003078449; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56338767 | 56338767 | | | NC_000006.11:g.56338767C>T | - | | |
NM_001374736.1(DST):c.21890A>G (p.Lys7297Arg) | 667 | DST | Uncertain significance | -1 | RCV002725416; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56338775 | 56338775 | | | NC_000006.11:g.56338775T>C | - | | |
NM_001374736.1(DST):c.21885C>T (p.Thr7295=) | 667 | DST | Likely benign | -1 | RCV001496768; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56338780 | 56338780 | | | 56338780 | - | | |
NM_001374736.1(DST):c.21875A>T (p.Glu7292Val) | 667 | DST | Uncertain significance | -1 | RCV002047870; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56338790 | 56338790 | | | 56338790 | - | | |
NM_001374736.1(DST):c.21865-15T>A | 667 | DST | Uncertain significance | -1 | RCV003069986; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56338815 | 56338815 | | | NC_000006.11:g.56338815A>T | - | | |
NM_001374736.1(DST):c.21865-20C>T | 667 | DST | Likely benign | -1 | RCV002105259; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56338820 | 56338820 | | | 56338820 | - | | |
NM_001374736.1(DST):c.21864+14_21864+16del | 667 | DST | Uncertain significance | -1 | RCV002880975; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56340931 | 56340933 | | | NC_000006.11:g.56340933_56340935del | - | | |
NM_001374736.1(DST):c.21864+13T>A | 667 | DST | Likely benign | -1 | RCV002156608; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56340934 | 56340934 | | | 56340934 | - | | |
NM_001374736.1(DST):c.21864+13T>C | 667 | DST | Uncertain significance | -1 | RCV003067318; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56340934 | 56340934 | | | NC_000006.11:g.56340934A>G | - | | |
NC_000006.11:g.(?_56340937)_(56342296_?)del | 667 | DST | Uncertain significance | -1 | RCV001916462; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56340937 | 56342296 | | | -1 | - | | |
NM_001374736.1(DST):c.21864+7T>C | 667 | DST | Likely benign | -1 | RCV001426327; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56340940 | 56340940 | | | 56340940 | - | | |
NM_001374736.1(DST):c.21862C>T (p.Gln7288Ter) | 667 | DST | Pathogenic | -1 | RCV001895286; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56340949 | 56340949 | | | 56340949 | - | | |
NM_001374736.1(DST):c.21861C>T (p.His7287_Gln7288=) | 667 | DST | Likely benign | -1 | RCV003014603; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56340950 | 56340950 | | | NC_000006.11:g.56340950G>A | - | | |
NM_001374736.1(DST):c.21858A>G (p.Glu7286=) | 667 | DST | Likely benign | -1 | RCV002213296; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56340953 | 56340953 | | | 56340953 | - | | |
NM_001374736.1(DST):c.21832G>A (p.Glu7278Lys) | 667 | DST | Uncertain significance | rs751149116 | RCV001313676; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56340979 | 56340979 | | | 56340979 | - | | |
NM_001374736.1(DST):c.21830T>C (p.Ile7277Thr) | 667 | DST | Uncertain significance | -1 | RCV001912413; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56340981 | 56340981 | | | 56340981 | - | | |
NM_001374736.1(DST):c.21824A>C (p.Gln7275Pro) | 667 | DST | Uncertain significance | rs2095181390 | RCV001317820; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56340987 | 56340987 | | | 56340987 | - | | |
NM_001374736.1(DST):c.21821C>G (p.Pro7274Arg) | 667 | DST | Uncertain significance | rs1250221052 | RCV001245433; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56340990 | 56340990 | | | 6:g.56340990G>C | - | | |
NM_001374736.1(DST):c.21817A>G (p.Ile7273Val) | 667 | DST | Uncertain significance | -1 | RCV002715529; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56340994 | 56340994 | | | NC_000006.11:g.56340994T>C | - | | |
NM_001374736.1(DST):c.21814G>A (p.Val7272Ile) | 667 | DST | Uncertain significance | rs767613702 | RCV001240068; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56340997 | 56340997 | | | 6:g.56340997C>T | - | | |
NM_001374736.1(DST):c.21814G>C (p.Val7272Leu) | 667 | DST | Uncertain significance | -1 | RCV001955059; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56340997 | 56340997 | | | 56340997 | - | | |
NM_001374736.1(DST):c.21811G>A (p.Glu7271Lys) | 667 | DST | Uncertain significance | -1 | RCV002731203; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56341000 | 56341000 | | | NC_000006.11:g.56341000C>T | - | | |
NM_001374736.1(DST):c.21793C>T (p.Leu7265Phe) | 667 | DST | Uncertain significance | rs1757751702 | RCV001345203; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56341018 | 56341018 | | | 56341018 | - | | |
NM_001374736.1(DST):c.21756del (p.Ala7253fs) | 667 | DST | Pathogenic | rs398122819 | RCV000024316|RCV001552535; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56341055 | 56341055 | | | 6:g.56341055_56341055del | ClinGen:CA281107,OMIM:113810.0001 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | |
NM_001374736.1(DST):c.21733A>G (p.Ile7245Val) | 667 | DST | Uncertain significance | rs2095184213 | RCV001245859; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56341078 | 56341078 | | | 6:g.56341078T>C | - | | |
NM_001374736.1(DST):c.21724G>T (p.Ala7242Ser) | 667 | DST | Uncertain significance | -1 | RCV001937410; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56341087 | 56341087 | | | 56341087 | - | | |
NM_001374736.1(DST):c.21717T>C (p.Ser7239=) | 667 | DST | Likely benign | -1 | RCV002194344; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56341094 | 56341094 | | | 56341094 | - | | |
NM_001374736.1(DST):c.21702G>A (p.Gln7234_Gln7235=) | 667 | DST | Uncertain significance | -1 | RCV002650090; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56341109 | 56341109 | | | NC_000006.11:g.56341109C>T | - | | |
NM_001374736.1(DST):c.21689C>T (p.Ala7230Val) | 667 | DST | Uncertain significance | -1 | RCV001363799|RCV002404861; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56341122 | 56341122 | | | 56341122 | - | | |
NM_001374736.1(DST):c.21678G>A (p.Val7226=) | 667 | DST | Uncertain significance | -1 | RCV001364675; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56341133 | 56341133 | | | 56341133 | - | | |
NM_001374736.1(DST):c.21676G>A (p.Val7226Met) | 667 | DST | Uncertain significance | -1 | RCV003002916; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56341135 | 56341135 | | | NC_000006.11:g.56341135C>T | - | | |
NM_001374736.1(DST):c.21676-6T>C | 667 | DST | Likely benign | -1 | RCV002192367; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56341141 | 56341141 | | | 56341141 | - | | |
NM_001374736.1(DST):c.21676-9C>T | 667 | DST | Likely benign | -1 | RCV001411469; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56341144 | 56341144 | | | 56341144 | - | | |
NM_001374736.1(DST):c.21676-15_21676-14del | 667 | DST | Benign | -1 | RCV001699837|RCV002073261; | N | MedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56341149 | 56341150 | | | 56341148 | - | | |
NM_001374736.1(DST):c.21676-17T>A | 667 | DST | Uncertain significance | -1 | RCV002761187; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56341152 | 56341152 | | | NC_000006.11:g.56341152A>T | - | | |
NM_001374736.1(DST):c.21675+10T>A | 667 | DST | Likely benign | -1 | RCV001438795; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56342133 | 56342133 | | | 56342133 | - | | |
NM_001374736.1(DST):c.21675+7G>A | 667 | DST | Benign/Likely benign | -1 | RCV001514391|RCV001732197; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56342136 | 56342136 | | | 56342136 | - | | |
NM_001374736.1(DST):c.21675+4A>G | 667 | DST | Uncertain significance | rs2095243185 | RCV001243704; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56342139 | 56342139 | | | 6:g.56342139T>C | - | | |
NM_001374736.1(DST):c.21662C>T (p.Ala7221Val) | 667 | DST | Uncertain significance | rs376556021 | RCV001246191|RCV002402784; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56342156 | 56342156 | | | 6:g.56342156G>A | - | | |
NM_001374736.1(DST):c.21659G>A (p.Arg7220Gln) | 667 | DST | Uncertain significance | rs765541556 | RCV001296137; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56342159 | 56342159 | | | 56342159 | - | | |
NM_001374736.1(DST):c.21658C>T (p.Arg7220Trp) | 667 | DST | Uncertain significance | -1 | RCV001926883|RCV002397925; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56342160 | 56342160 | | | 56342160 | - | | |
NM_001374736.1(DST):c.21636T>G (p.Ile7212Met) | 667 | DST | Uncertain significance | -1 | RCV002012961; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56342182 | 56342182 | | | 56342182 | - | | |
NM_001374736.1(DST):c.21631A>G (p.Thr7211Ala) | 667 | DST | Uncertain significance | rs2095244412 | RCV001247636; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56342187 | 56342187 | | | 6:g.56342187T>C | - | | |
NM_001374736.1(DST):c.21627C>G (p.Ile7209Met) | 667 | DST | Uncertain significance | rs2095244497 | RCV001247775; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56342191 | 56342191 | | | 6:g.56342191G>C | - | | |
NM_001374736.1(DST):c.21626T>C (p.Ile7209Thr) | 667 | DST | Uncertain significance | -1 | RCV002013253; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56342192 | 56342192 | | | 56342192 | - | | |
NM_001374736.1(DST):c.21625A>G (p.Ile7209Val) | 667 | DST | Uncertain significance | -1 | RCV002815270; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56342193 | 56342193 | | | NC_000006.11:g.56342193T>C | - | | |
NM_001374736.1(DST):c.21618C>T (p.Pro7206=) | 667 | DST | Likely benign | -1 | RCV001481018; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56342200 | 56342200 | | | 56342200 | - | | |
NM_001374736.1(DST):c.21618C>G (p.Pro7206=) | 667 | DST | Likely benign | -1 | RCV002103249; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56342200 | 56342200 | | | 56342200 | - | | |
NM_001374736.1(DST):c.21598G>A (p.Val7200Ile) | 667 | DST | Uncertain significance | rs760700573 | RCV001241530|RCV002393624; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56342220 | 56342220 | | | 6:g.56342220C>T | - | | |
NM_001374736.1(DST):c.21598G>T (p.Val7200Phe) | 667 | DST | Uncertain significance | -1 | RCV003067913; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56342220 | 56342220 | | | NC_000006.11:g.56342220C>A | - | | |
NM_001374736.1(DST):c.21597C>T (p.Thr7199_Val7200=) | 667 | DST | Uncertain significance | -1 | RCV003067064; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56342221 | 56342221 | | | NC_000006.11:g.56342221G>A | - | | |
NM_001374736.1(DST):c.21595A>G (p.Thr7199Ala) | 667 | DST | Uncertain significance | rs2095245434 | RCV001240922; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56342223 | 56342223 | | | 6:g.56342223T>C | - | | |
NM_001374736.1(DST):c.21592G>A (p.Asp7198Asn) | 667 | DST | Uncertain significance | -1 | RCV003063244; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56342226 | 56342226 | | | NC_000006.11:g.56342226C>T | - | | |
NM_001374736.1(DST):c.21591C>T (p.Gly7197=) | 667 | DST | Likely benign | -1 | RCV001465458; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56342227 | 56342227 | | | 56342227 | - | | |
NM_001374736.1(DST):c.21584C>T (p.Thr7195Ile) | 667 | DST | Uncertain significance | -1 | RCV002631876; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56342234 | 56342234 | | | NC_000006.11:g.56342234G>A | - | | |
NM_001374736.1(DST):c.21572A>G (p.Asn7191Ser) | 667 | DST | Uncertain significance | rs1310432337 | RCV001308011; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56342246 | 56342246 | | | 56342246 | - | | |
NM_001374736.1(DST):c.21570A>G (p.Leu7190=) | 667 | DST | Likely benign | -1 | RCV001414282; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56342248 | 56342248 | | | 56342248 | - | | |
NM_001374736.1(DST):c.21560G>T (p.Arg7187Ile) | 667 | DST | Uncertain significance | -1 | RCV002635396; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56342258 | 56342258 | | | NC_000006.11:g.56342258C>A | - | | |
NM_001374736.1(DST):c.21538A>G (p.Met7180Val) | 667 | DST | Conflicting interpretations of pathogenicity | rs200006386 | RCV001311719|RCV001400269|RCV002395661; | N | MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56342280 | 56342280 | | | 56342280 | - | | |
NM_001374736.1(DST):c.21532-12T>C | 667 | DST | Uncertain significance | -1 | RCV002853004; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56342298 | 56342298 | | | NC_000006.11:g.56342298A>G | - | | |
NM_001374736.1(DST):c.21531+11T>C | 667 | DST | Likely benign | -1 | RCV002188154; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346837 | 56346837 | | | 56346837 | - | | |
NM_001374736.1(DST):c.21529A>G (p.Lys7177Glu) | 667 | DST | Uncertain significance | -1 | RCV001368426; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346850 | 56346850 | | | 56346850 | - | | |
NM_001374736.1(DST):c.21518T>C (p.Ile7173Thr) | 667 | DST | Uncertain significance | -1 | RCV001889366; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346861 | 56346861 | | | 56346861 | - | | |
NM_001374736.1(DST):c.21514C>G (p.Leu7172Val) | 667 | DST | Uncertain significance | rs1461679972 | RCV001308419; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346865 | 56346865 | | | 56346865 | - | | |
NM_001374736.1(DST):c.21510G>A (p.Arg7170=) | 667 | DST | Likely benign | -1 | RCV002210662; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346869 | 56346869 | | | 56346869 | - | | |
NM_001374736.1(DST):c.21509G>A (p.Arg7170Gln) | 667 | DST | Uncertain significance | rs201690182 | RCV001243563|RCV002393634; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56346870 | 56346870 | | | 6:g.56346870C>T | - | | |
NM_001374736.1(DST):c.21503C>G (p.Ala7168Gly) | 667 | DST | Uncertain significance | rs201982383 | RCV001245367|RCV002393649; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56346876 | 56346876 | | | 6:g.56346876G>C | - | | |
NM_001374736.1(DST):c.21500A>G (p.Asp7167Gly) | 667 | DST | Uncertain significance | rs1562272106 | RCV001248734; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346879 | 56346879 | | | 6:g.56346879T>C | - | | |
NM_001374736.1(DST):c.21470G>A (p.Arg7157His) | 667 | DST | Uncertain significance | rs576138885 | RCV001244815|RCV002393647; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56346909 | 56346909 | | | 6:g.56346909C>T | - | | |
NM_001374736.1(DST):c.21465_21466insTT (p.Leu7156fs) | 667 | DST | Pathogenic | -1 | RCV003024681; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346913 | 56346914 | | | NC_000006.11:g.56346913_56346914insAA | - | | |
NM_001374736.1(DST):c.21463A>T (p.Thr7155Ser) | 667 | DST | Uncertain significance | -1 | RCV002615057; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346916 | 56346916 | | | NC_000006.11:g.56346916T>A | - | | |
NM_001374736.1(DST):c.21456G>A (p.Ala7152=) | 667 | DST | Likely benign | -1 | RCV001483480; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346923 | 56346923 | | | 56346923 | - | | |
NM_001374736.1(DST):c.21455C>T (p.Ala7152Val) | 667 | DST | Uncertain significance | -1 | RCV001373385; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346924 | 56346924 | | | 56346924 | - | | |
NM_001374736.1(DST):c.21454G>A (p.Ala7152Thr) | 667 | DST | Uncertain significance | -1 | RCV003110763; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346925 | 56346925 | | | NC_000006.11:g.56346925C>T | - | | |
NM_001374736.1(DST):c.21448G>T (p.Ala7150Ser) | 667 | DST | Uncertain significance | rs1393774391 | RCV000821659; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346931 | 56346931 | | | 6:g.56346931C>A | - | | |
NM_001374736.1(DST):c.21443G>A (p.Trp7148Ter) | 667 | DST | Pathogenic | -1 | RCV003063832; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346936 | 56346936 | | | NC_000006.11:g.56346936C>T | - | | |
NM_001374736.1(DST):c.21423G>A (p.Val7141_Val7142=) | 667 | DST | Benign | rs201115435 | RCV000979040; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56346956 | 56346956 | | | 6:g.56346956C>T | - | | |
NM_001374736.1(DST):c.21421G>T (p.Val7141Leu) | 667 | DST | Uncertain significance | -1 | RCV001887612; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346958 | 56346958 | | | 56346958 | - | | |
NM_001374736.1(DST):c.21420G>A (p.Ser7140=) | 667 | DST | Likely benign | -1 | RCV001436430; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346959 | 56346959 | | | 56346959 | - | | |
NM_001374736.1(DST):c.21419C>T (p.Ser7140Leu) | 667 | DST | Uncertain significance | -1 | RCV001364018; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56346960 | 56346960 | | | 56346960 | - | | |
NM_001374736.1(DST):c.21408G>C (p.Glu7136Asp) | 667 | DST | Uncertain significance | -1 | RCV001935037; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56346971 | 56346971 | | | 56346971 | - | | |
NM_001374736.1(DST):c.21403-1G>A | 667 | DST | Likely pathogenic | -1 | RCV002862584; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56346977 | 56346977 | | | NC_000006.11:g.56346977C>T | - | | |
NM_001374736.1(DST):c.21403-23TG[8] | 667 | DST | Likely benign | rs144810945 | RCV000980184|RCV001700683; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56346985 | 56346986 | | | 6:g.56346985_56346986insCA | - | | |
NM_001374736.1(DST):c.21403-23TG[17] | 667 | DST | Likely benign | -1 | RCV001423009; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346985 | 56346986 | | | 56346985 | - | | |
NM_001374736.1(DST):c.21403-23TG[16] | 667 | DST | Likely benign | -1 | RCV001463627; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346985 | 56346986 | | | 56346985 | - | | |
NM_001374736.1(DST):c.21403-23TG[20] | 667 | DST | Likely benign | -1 | RCV001472929; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346985 | 56346986 | | | 56346985 | - | | |
NM_001374736.1(DST):c.21403-23TG[21] | 667 | DST | Likely benign | -1 | RCV001501064; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56346985 | 56346986 | | | 56346985 | - | | |
NM_001374736.1(DST):c.21403-23TG[18] | 667 | DST | Benign | -1 | RCV001514455; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346985 | 56346986 | | | 56346985 | - | | |
NM_001374736.1(DST):c.21403-23TG[19] | 667 | DST | Benign/Likely benign | -1 | RCV001510455|RCV001732193; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56346985 | 56346986 | | | 56346985 | - | | |
NM_001374736.1(DST):c.21403-23TG[6] | 667 | DST | Benign | -1 | RCV002122650; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56346986 | 56346987 | | | 56346985 | - | | |
NM_001374736.1(DST):c.21402+12G>C | 667 | DST | Likely benign | -1 | RCV002208324; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56347469 | 56347469 | | | 56347469 | - | | |
NM_001374736.1(DST):c.21398G>A (p.Arg7133His) | 667 | DST | Uncertain significance | -1 | RCV002004605; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56347485 | 56347485 | | | 56347485 | - | | |
NM_001374736.1(DST):c.21397C>T (p.Arg7133Cys) | 667 | DST | Uncertain significance | rs1465520965 | RCV001247972; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56347486 | 56347486 | | | 6:g.56347486G>A | - | | |
NM_001374736.1(DST):c.21379C>T (p.Arg7127Trp) | 667 | DST | Uncertain significance | -1 | RCV001365517; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56347504 | 56347504 | | | 56347504 | - | | |
NM_001374736.1(DST):c.21364A>G (p.Ile7122Val) | 667 | DST | Uncertain significance | rs201703299 | RCV001243168|RCV002393632; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56347519 | 56347519 | | | 6:g.56347519T>C | - | | |
NM_001374736.1(DST):c.21349G>A (p.Val7117Met) | 667 | DST | Uncertain significance | -1 | RCV001951970; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56347534 | 56347534 | | | 56347534 | - | | |
NM_001374736.1(DST):c.21348C>T (p.Thr7116=) | 667 | DST | Likely benign | -1 | RCV001410053; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56347535 | 56347535 | | | 56347535 | - | | |
NM_001374736.1(DST):c.21347C>G (p.Thr7116Ser) | 667 | DST | Uncertain significance | -1 | RCV001929298; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56347536 | 56347536 | | | 56347536 | - | | |
NM_001374736.1(DST):c.21338G>A (p.Arg7113His) | 667 | DST | Uncertain significance | -1 | RCV001992873; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56347545 | 56347545 | | | 56347545 | - | | |
NM_001374736.1(DST):c.21337C>T (p.Arg7113Cys) | 667 | DST | Uncertain significance | -1 | RCV001987865|RCV002388916; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56347546 | 56347546 | | | 56347546 | - | | |
NM_001374736.1(DST):c.21327A>G (p.Glu7109=) | 667 | DST | Likely benign | -1 | RCV002213438; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56347556 | 56347556 | | | 56347556 | - | | |
NM_001374736.1(DST):c.21324G>A (p.Gln7108=) | 667 | DST | Likely benign | -1 | RCV001459647; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56347559 | 56347559 | | | 56347559 | - | | |
NM_001374736.1(DST):c.21310A>G (p.Lys7104Glu) | 667 | DST | Uncertain significance | -1 | RCV002006414; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56347573 | 56347573 | | | 56347573 | - | | |
NM_001374736.1(DST):c.21293A>T (p.Asp7098Val) | 667 | DST | Uncertain significance | -1 | RCV002611785; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56347590 | 56347590 | | | NC_000006.11:g.56347590T>A | - | | |
NM_001374736.1(DST):c.21290G>A (p.Arg7097Gln) | 667 | DST | Uncertain significance | rs372651269 | RCV001243633|RCV002393638; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56347593 | 56347593 | | | 6:g.56347593C>T | - | | |
NM_001374736.1(DST):c.21289C>T (p.Arg7097Trp) | 667 | DST | Uncertain significance | rs752231990 | RCV001343637|RCV001507669; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56347594 | 56347594 | | | 56347594 | - | | |
NM_001374736.1(DST):c.21288T>A (p.Ser7096Arg) | 667 | DST | Uncertain significance | rs2095442394 | RCV001244752; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56347595 | 56347595 | | | 6:g.56347595A>T | - | | |
NM_001374736.1(DST):c.21269G>A (p.Arg7090Gln) | 667 | DST | Uncertain significance | -1 | RCV001954811|RCV002388854; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56347614 | 56347614 | | | 56347614 | - | | |
NM_001374736.1(DST):c.21268C>G (p.Arg7090Gly) | 667 | DST | Uncertain significance | rs753400637 | RCV001239859; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56347615 | 56347615 | | | 6:g.56347615G>C | - | | |
NM_001374736.1(DST):c.21260G>A (p.Arg7087His) | 667 | DST | Uncertain significance | rs199548754 | RCV001240341|RCV002393617; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56347623 | 56347623 | | | 6:g.56347623C>T | - | | |
NM_001374736.1(DST):c.21259C>T (p.Arg7087Cys) | 667 | DST | Uncertain significance | -1 | RCV002388851|RCV001945695; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56347624 | 56347624 | | | 56347624 | - | | |
NM_001374736.1(DST):c.21243T>A (p.Ser7081Arg) | 667 | DST | Uncertain significance | rs779915352 | RCV001241868; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56347640 | 56347640 | | | 6:g.56347640A>T | - | | |
NM_001374736.1(DST):c.21243T>C (p.Ser7081=) | 667 | DST | Likely benign | -1 | RCV002152383; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56347640 | 56347640 | | | 56347640 | - | | |
NM_001374736.1(DST):c.21237C>T (p.Thr7079=) | 667 | DST | Likely benign | -1 | RCV001437334; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56347646 | 56347646 | | | 56347646 | - | | |
NM_001374736.1(DST):c.21234G>A (p.Arg7078=) | 667 | DST | Likely benign | -1 | RCV002146162; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56347649 | 56347649 | | | 56347649 | - | | |
NM_001374736.1(DST):c.21233_21234insTTGGG (p.Arg7078fs) | 667 | DST | Pathogenic | -1 | RCV003048247; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56347649 | 56347650 | | | NC_000006.11:g.56347650_56347651insCCAAC | - | | |
NM_001374736.1(DST):c.21231G>A (p.Lys7077=) | 667 | DST | Likely benign | -1 | RCV001422117; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56347652 | 56347652 | | | 56347652 | - | | |
NM_001374736.1(DST):c.21208-2A>T | 667 | DST | Likely pathogenic | -1 | RCV001961435; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56347677 | 56347677 | | | 56347677 | - | | |
NM_001374736.1(DST):c.21204C>T (p.His7068=) | 667 | DST | Likely benign | -1 | RCV001481202; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56350113 | 56350113 | | | 56350113 | - | | |
NM_001374736.1(DST):c.21195C>A (p.Ile7065=) | 667 | DST | Uncertain significance | rs759930255 | RCV001338339; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56350122 | 56350122 | | | 56350122 | - | | |
NM_001374736.1(DST):c.21195C>T (p.Ile7065_Asp7066=) | 667 | DST | Likely benign | -1 | RCV003070249; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56350122 | 56350122 | | | NC_000006.11:g.56350122G>A | - | | |
NM_001374736.1(DST):c.21187A>G (p.Asn7063Asp) | 667 | DST | Uncertain significance | rs2095526396 | RCV001245996; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56350130 | 56350130 | | | 6:g.56350130T>C | - | | |
NM_001374736.1(DST):c.21183G>T (p.Val7061=) | 667 | DST | Likely benign | -1 | RCV001480716; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56350134 | 56350134 | | | 56350134 | - | | |
NM_001374736.1(DST):c.21181G>A (p.Val7061Met) | 667 | DST | Uncertain significance | rs1308825083 | RCV001247057; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56350136 | 56350136 | | | 6:g.56350136C>T | - | | |
NM_001374736.1(DST):c.21178T>C (p.Leu7060=) | 667 | DST | Likely benign | -1 | RCV001405655; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56350139 | 56350139 | | | 56350139 | - | | |
NM_001374736.1(DST):c.21153C>A (p.Asp7051Glu) | 667 | DST | Uncertain significance | -1 | RCV001368160; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56350164 | 56350164 | | | 56350164 | - | | |
NM_001374736.1(DST):c.21141G>A (p.Gln7047=) | 667 | DST | Likely benign | -1 | RCV001477870; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56350176 | 56350176 | | | 56350176 | - | | |
NM_001374736.1(DST):c.21102A>G (p.Leu7034=) | 667 | DST | Likely benign | -1 | RCV002113015; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56350215 | 56350215 | | | 56350215 | - | | |
NM_001374736.1(DST):c.21100C>T (p.Leu7034=) | 667 | DST | Likely benign | -1 | RCV001441376; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56350217 | 56350217 | | | 56350217 | - | | |
NM_001374736.1(DST):c.21080C>G (p.Ser7027Cys) | 667 | DST | Uncertain significance | -1 | RCV002941892; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56350237 | 56350237 | | | NC_000006.11:g.56350237G>C | - | | |
NM_001374736.1(DST):c.21048-1G>T | 667 | DST | Likely pathogenic | -1 | RCV001378330; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56350270 | 56350270 | | | 56350270 | - | | |
NM_001374736.1(DST):c.21048-4C>G | 667 | DST | Likely benign | -1 | RCV001467673; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56350273 | 56350273 | | | 56350273 | - | | |
NM_001374736.1(DST):c.21048-5C>T | 667 | DST | Likely benign | -1 | RCV001483481; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56350274 | 56350274 | | | 56350274 | - | | |
NM_001374736.1(DST):c.21048-14A>G | 667 | DST | Likely benign | -1 | RCV002606541; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56350283 | 56350283 | | | NC_000006.11:g.56350283T>C | - | | |
NM_001374736.1(DST):c.21047+9T>A | 667 | DST | Likely benign | -1 | RCV001393798; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56351893 | 56351893 | | | 56351893 | - | | |
NM_001374736.1(DST):c.21015A>G (p.Lys7005=) | 667 | DST | Uncertain significance | -1 | RCV002030168; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56351934 | 56351934 | | | 56351934 | - | | |
NM_001374736.1(DST):c.21011A>C (p.Asp7004Ala) | 667 | DST | Uncertain significance | -1 | RCV001914180; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56351938 | 56351938 | | | 56351938 | - | | |
NM_001374736.1(DST):c.21001G>C (p.Glu7001Gln) | 667 | DST | Uncertain significance | rs555055845 | RCV001248591; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56351948 | 56351948 | | | 6:g.56351948C>G | - | | |
NM_001374736.1(DST):c.20999G>C (p.Ser7000Thr) | 667 | DST | Uncertain significance | -1 | RCV002586873; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56351950 | 56351950 | | | NC_000006.11:g.56351950C>G | - | | |
NM_001374736.1(DST):c.20997G>A (p.Leu6999_Ser7000=) | 667 | DST | Benign/Likely benign | rs187652380 | RCV000625437|RCV000979000|RCV001701418|RCV001785683|RCV002395637; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN169374|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 6 | 56351952 | 56351952 | | | 6:g.56351952C>T | ClinGen:CA3866608 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | |
NM_001374736.1(DST):c.20993T>C (p.Met6998Thr) | 667 | DST | Uncertain significance | -1 | RCV002021843; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56351956 | 56351956 | | | 56351956 | - | | |
NM_001374736.1(DST):c.20988T>A (p.Asp6996Glu) | 667 | DST | Uncertain significance | -1 | RCV001912301; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56351961 | 56351961 | | | 56351961 | - | | |
NM_001374736.1(DST):c.20981A>G (p.Lys6994Arg) | 667 | DST | Uncertain significance | rs747140695 | RCV001243634; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56351968 | 56351968 | | | 6:g.56351968T>C | - | | |
NM_001374736.1(DST):c.20977C>G (p.Leu6993Val) | 667 | DST | Benign | -1 | RCV001517025|RCV001685392; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56351972 | 56351972 | | | 56351972 | - | | |
NM_001374736.1(DST):c.20976C>T (p.Asn6992_Leu6993=) | 667 | DST | Benign/Likely benign | rs199658821 | RCV000979024|RCV001311720; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56351973 | 56351973 | | | 6:g.56351973G>A | - | | |
NM_001374736.1(DST):c.20976C>A (p.Asn6992Lys) | 667 | DST | Uncertain significance | -1 | RCV001867749; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56351973 | 56351973 | | | 56351973 | - | | |
NM_001374736.1(DST):c.20975A>G (p.Asn6992Ser) | 667 | DST | Uncertain significance | rs780386919 | RCV000805306; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56351974 | 56351974 | | | 6:g.56351974T>C | - | | |
NM_001374736.1(DST):c.20971G>A (p.Asp6991Asn) | 667 | DST | Uncertain significance | -1 | RCV002031854; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56351978 | 56351978 | | | 56351978 | - | | |
NM_001374736.1(DST):c.20969A>C (p.Asp6990Ala) | 667 | DST | Uncertain significance | rs2095597405 | RCV001246857; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56351980 | 56351980 | | | 6:g.56351980T>G | - | | |
NM_001374736.1(DST):c.20963T>G (p.Leu6988Arg) | 667 | DST | Uncertain significance | rs769301413 | RCV001244614; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56351986 | 56351986 | | | 6:g.56351986A>C | - | | |
NM_001374736.1(DST):c.20937A>G (p.Gly6979=) | 667 | DST | Likely benign | -1 | RCV002093319; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56352012 | 56352012 | | | 56352012 | - | | |
NM_001374736.1(DST):c.20924C>T (p.Thr6975Ile) | 667 | DST | Uncertain significance | rs775114465 | RCV001244613; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56352025 | 56352025 | | | 6:g.56352025G>A | - | | |
NM_001374736.1(DST):c.20923A>G (p.Thr6975Ala) | 667 | DST | Uncertain significance | rs2095598634 | RCV001343514; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56352026 | 56352026 | | | 56352026 | - | | |
NM_001374736.1(DST):c.20904G>T (p.Lys6968Asn) | 667 | DST | Uncertain significance | rs373333745 | RCV001244417; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56352045 | 56352045 | | | 6:g.56352045C>A | - | | |
NM_001374736.1(DST):c.20895C>T (p.Leu6965=) | 667 | DST | Likely benign | -1 | RCV001506338; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56352054 | 56352054 | | | 56352054 | - | | |
NM_001374736.1(DST):c.20890T>G (p.Ser6964Ala) | 667 | DST | Uncertain significance | -1 | RCV003085063; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56352059 | 56352059 | | | NC_000006.11:g.56352059A>C | - | | |
NM_001374736.1(DST):c.20878-3T>C | 667 | DST | Uncertain significance | rs961527038 | RCV001245720; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56352074 | 56352074 | | | 6:g.56352074A>G | - | | |
NM_001374736.1(DST):c.20878-8dup | 667 | DST | Uncertain significance | -1 | RCV001954870; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56352078 | 56352079 | | | 56352078 | - | | |
NM_001374736.1(DST):c.20877+9A>G | 667 | DST | Uncertain significance | -1 | RCV002647076; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56354279 | 56354279 | | | NC_000006.11:g.56354279T>C | - | | |
NM_001374736.1(DST):c.20871A>G (p.Gln6957_His6958=) | 667 | DST | Benign | rs572477548 | RCV000982023; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56354294 | 56354294 | | | 6:g.56354294T>C | - | | |
NM_001374736.1(DST):c.20847C>T (p.Asp6949=) | 667 | DST | Likely benign | -1 | RCV001492091; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56354318 | 56354318 | | | 56354318 | - | | |
NM_001374736.1(DST):c.20836A>T (p.Asn6946Tyr) | 667 | DST | Uncertain significance | rs910349740 | RCV001241253; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56354329 | 56354329 | | | 6:g.56354329T>A | - | | |
NM_001374736.1(DST):c.20834C>T (p.Ala6945Val) | 667 | DST | Uncertain significance | rs2095669121 | RCV001241452; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56354331 | 56354331 | | | 6:g.56354331G>A | - | | |
NM_001374736.1(DST):c.20825T>C (p.Leu6942Pro) | 667 | DST | Uncertain significance | -1 | RCV001875676; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56354340 | 56354340 | | | 56354340 | - | | |
NM_001374736.1(DST):c.20785G>C (p.Glu6929Gln) | 667 | DST | Uncertain significance | -1 | RCV002770998; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56354380 | 56354380 | | | NC_000006.11:g.56354380C>G | - | | |
NM_001374736.1(DST):c.20783T>C (p.Met6928Thr) | 667 | DST | Uncertain significance | rs763176568 | RCV001243096; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56354382 | 56354382 | | | 6:g.56354382A>G | - | | |
NM_001374736.1(DST):c.20783T>A (p.Met6928Lys) | 667 | DST | Uncertain significance | -1 | RCV001939862; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56354382 | 56354382 | | | 56354382 | - | | |
NM_001374736.1(DST):c.20767G>A (p.Ala6923Thr) | 667 | DST | Uncertain significance | rs767948298 | RCV001319143|RCV002395689; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56354398 | 56354398 | | | 56354398 | - | | |
NM_001374736.1(DST):c.20762A>G (p.His6921Arg) | 667 | DST | Uncertain significance | -1 | RCV002016536; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56354403 | 56354403 | | | 56354403 | - | | |
NM_001374736.1(DST):c.20761C>T (p.His6921Tyr) | 667 | DST | Uncertain significance | rs2095670422 | RCV001309635; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56354404 | 56354404 | | | 56354404 | - | | |
NM_001374736.1(DST):c.20760C>G (p.Phe6920Leu) | 667 | DST | Uncertain significance | rs374056754 | RCV001242693; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56354405 | 56354405 | | | 6:g.56354405G>C | - | | |
NM_001374736.1(DST):c.20758-4C>G | 667 | DST | Uncertain significance | -1 | RCV002572060; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56354411 | 56354411 | | | NC_000006.11:g.56354411G>C | - | | |
NM_001374736.1(DST):c.20757+12T>G | 667 | DST | Uncertain significance | -1 | RCV002898811; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357013 | 56357013 | | | NC_000006.11:g.56357013A>C | - | | |
NM_001374736.1(DST):c.20757+1G>A | 667 | DST | Likely pathogenic | -1 | RCV001379738; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357024 | 56357024 | | | 56357024 | - | | |
NM_001374736.1(DST):c.20757G>A (p.Gln6919_Phe6920=) | 667 | DST | Uncertain significance | -1 | RCV003067431; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357025 | 56357025 | | | NC_000006.11:g.56357025C>T | - | | |
NM_001374736.1(DST):c.20756A>G (p.Gln6919Arg) | 667 | DST | Uncertain significance | rs771106035 | RCV001243095; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357026 | 56357026 | | | 6:g.56357026T>C | - | | |
NM_001374736.1(DST):c.20753A>T (p.Lys6918Met) | 667 | DST | Uncertain significance | -1 | RCV003082123; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357029 | 56357029 | | | NC_000006.11:g.56357029T>A | - | | |
NM_001374736.1(DST):c.20745G>C (p.Lys6915Asn) | 667 | DST | Uncertain significance | -1 | RCV003068571; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357037 | 56357037 | | | NC_000006.11:g.56357037C>G | - | | |
NM_001374736.1(DST):c.20726C>A (p.Ser6909Tyr) | 667 | DST | Uncertain significance | rs371015718 | RCV001339296; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357056 | 56357056 | | | 56357056 | - | | |
NM_001374736.1(DST):c.20722A>G (p.Arg6908Gly) | 667 | DST | Uncertain significance | -1 | RCV002039021; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357060 | 56357060 | | | 56357060 | - | | |
NM_001374736.1(DST):c.20719G>A (p.Gly6907Arg) | 667 | DST | Uncertain significance | -1 | RCV002820447; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357063 | 56357063 | | | NC_000006.11:g.56357063C>T | - | | |
NM_001374736.1(DST):c.20719G>C (p.Gly6907Arg) | 667 | DST | Uncertain significance | -1 | RCV002837514; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357063 | 56357063 | | | NC_000006.11:g.56357063C>G | - | | |
NM_001374736.1(DST):c.20718A>T (p.Arg6906Ser) | 667 | DST | Uncertain significance | rs936474152 | RCV000795797; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357064 | 56357064 | | | 6:g.56357064T>A | - | | |
NM_001374736.1(DST):c.20709G>A (p.Leu6903=) | 667 | DST | Uncertain significance | rs764552655 | RCV001308244; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357073 | 56357073 | | | 56357073 | - | | |
NM_001374736.1(DST):c.20705G>A (p.Arg6902Gln) | 667 | DST | Uncertain significance | rs754316339 | RCV001246800; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357077 | 56357077 | | | 6:g.56357077C>T | - | | |
NM_001374736.1(DST):c.20704C>T (p.Arg6902Trp) | 667 | DST | Uncertain significance | -1 | RCV003086594; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357078 | 56357078 | | | NC_000006.11:g.56357078G>A | - | | |
NM_001374736.1(DST):c.20704C>A (p.Arg6902_Leu6903=) | 667 | DST | Uncertain significance | -1 | RCV002765420; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357078 | 56357078 | | | NC_000006.11:g.56357078G>T | - | | |
NM_001374736.1(DST):c.20698G>T (p.Val6900Phe) | 667 | DST | Uncertain significance | -1 | RCV001924222; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357084 | 56357084 | | | 56357084 | - | | |
NM_001374736.1(DST):c.20684G>T (p.Arg6895Leu) | 667 | DST | Uncertain significance | rs371273718 | RCV001339277|RCV002395740; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56357098 | 56357098 | | | 56357098 | - | | |
NM_001374736.1(DST):c.20684G>A (p.Arg6895Gln) | 667 | DST | Uncertain significance | rs371273718 | RCV001341014; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357098 | 56357098 | | | 56357098 | - | | |
NM_001374736.1(DST):c.20674G>A (p.Val6892Ile) | 667 | DST | Uncertain significance | -1 | RCV002634800; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357108 | 56357108 | | | NC_000006.11:g.56357108C>T | - | | |
NM_001374736.1(DST):c.20659A>G (p.Asn6887Asp) | 667 | DST | Uncertain significance | rs2095777312 | RCV001241251; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357123 | 56357123 | | | 6:g.56357123T>C | - | | |
NM_001374736.1(DST):c.20658G>A (p.Lys6886_Asn6887=) | 667 | DST | Uncertain significance | -1 | RCV002722105; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357124 | 56357124 | | | NC_000006.11:g.56357124C>T | - | | |
NM_001374736.1(DST):c.20622A>C (p.Lys6874Asn) | 667 | DST | Uncertain significance | -1 | RCV003014594; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357160 | 56357160 | | | NC_000006.11:g.56357160T>G | - | | |
NM_001374736.1(DST):c.20612C>T (p.Thr6871Ile) | 667 | DST | Uncertain significance | rs2095778341 | RCV001240343; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357170 | 56357170 | | | 6:g.56357170G>A | - | | |
NM_001374736.1(DST):c.20606C>T (p.Thr6869Ile) | 667 | DST | Uncertain significance | -1 | RCV001982684; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357176 | 56357176 | | | 56357176 | - | | |
NM_001374736.1(DST):c.20596C>T (p.Leu6866=) | 667 | DST | Likely benign | -1 | RCV002177565; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357186 | 56357186 | | | 56357186 | - | | |
NM_001374736.1(DST):c.20593G>C (p.Glu6865Gln) | 667 | DST | Uncertain significance | -1 | RCV002004002; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357189 | 56357189 | | | 56357189 | - | | |
NM_001374736.1(DST):c.20578C>T (p.Arg6860Cys) | 667 | DST | Uncertain significance | rs769340564 | RCV000823541; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357204 | 56357204 | | | 6:g.56357204G>A | - | | |
NM_001374736.1(DST):c.20576A>T (p.His6859Leu) | 667 | DST | Uncertain significance | -1 | RCV002576337; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357206 | 56357206 | | | NC_000006.11:g.56357206T>A | - | | |
NM_001374736.1(DST):c.20561A>G (p.Asn6854Ser) | 667 | DST | Uncertain significance | rs372049401 | RCV000797123|RCV002388447; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56357221 | 56357221 | | | 6:g.56357221T>C | - | | |
NM_001374736.1(DST):c.20560A>C (p.Asn6854His) | 667 | DST | Uncertain significance | -1 | RCV001365519|RCV002395824; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56357222 | 56357222 | | | 56357222 | - | | |
NM_001374736.1(DST):c.20559C>T (p.Ala6853=) | 667 | DST | Likely benign | -1 | RCV001417742; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357223 | 56357223 | | | 56357223 | - | | |
NM_001374736.1(DST):c.20551G>A (p.Val6851Ile) | 667 | DST | Uncertain significance | -1 | RCV002035754; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357231 | 56357231 | | | 56357231 | - | | |
NM_001374736.1(DST):c.20551-3A>C | 667 | DST | Uncertain significance | rs1192992788 | RCV001071469|RCV002393345; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56357234 | 56357234 | | | 6:g.56357234T>G | - | | |
NM_001374736.1(DST):c.20551-16dup | 667 | DST | Benign | -1 | RCV001510721; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357240 | 56357241 | | | 56357240 | - | | |
NM_001374736.1(DST):c.20551-10T>C | 667 | DST | Benign | rs191932729 | RCV000979023; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357241 | 56357241 | | | 6:g.56357241A>G | - | | |
NM_001374736.1(DST):c.20551-10del | 667 | DST | Benign | -1 | RCV001514673; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357241 | 56357241 | | | 56357240 | - | | |
NM_001374736.1(DST):c.20550+7A>G | 667 | DST | Uncertain significance | -1 | RCV002880553; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357725 | 56357725 | | | NC_000006.11:g.56357725T>C | - | | |
NM_001374736.1(DST):c.20548A>G (p.Lys6850Glu) | 667 | DST | Uncertain significance | -1 | RCV001987538; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357734 | 56357734 | | | 56357734 | - | | |
NM_001374736.1(DST):c.20542G>A (p.Glu6848Lys) | 667 | DST | Uncertain significance | rs201305293 | RCV001245090|RCV002393648; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56357740 | 56357740 | | | 6:g.56357740C>T | - | | |
NM_001374736.1(DST):c.20541C>T (p.Asp6847=) | 667 | DST | Benign | -1 | RCV001514393; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357741 | 56357741 | | | 56357741 | - | | |
NM_001374736.1(DST):c.20537T>C (p.Ile6846Thr) | 667 | DST | Uncertain significance | rs762395369 | RCV001350784; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357745 | 56357745 | | | 56357745 | - | | |
NM_001374736.1(DST):c.20524G>C (p.Val6842Leu) | 667 | DST | Uncertain significance | -1 | RCV001962445; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357758 | 56357758 | | | 56357758 | - | | |
NM_001374736.1(DST):c.20511C>G (p.Leu6837=) | 667 | DST | Likely benign | -1 | RCV001485923; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357771 | 56357771 | | | 56357771 | - | | |
NM_001374736.1(DST):c.20511C>T (p.Leu6837_Ile6838=) | 667 | DST | Likely benign | -1 | RCV002909649; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357771 | 56357771 | | | NC_000006.11:g.56357771G>A | - | | |
NM_001374736.1(DST):c.20500C>T (p.Arg6834Trp) | 667 | DST | Uncertain significance | -1 | RCV002002668|RCV002511121; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56357782 | 56357782 | | | 56357782 | - | | |
NM_001374736.1(DST):c.20497T>C (p.Ser6833Pro) | 667 | DST | Uncertain significance | -1 | RCV002766258; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357785 | 56357785 | | | NC_000006.11:g.56357785A>G | - | | |
NM_001374736.1(DST):c.20482A>G (p.Thr6828Ala) | 667 | DST | Uncertain significance | -1 | RCV002023629; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357800 | 56357800 | | | 56357800 | - | | |
NM_001374736.1(DST):c.20451C>T (p.Asp6817=) | 667 | DST | Likely benign | -1 | RCV001470824; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357831 | 56357831 | | | 56357831 | - | | |
NM_001374736.1(DST):c.20446C>T (p.Gln6816Ter) | 667 | DST | Pathogenic | rs2095802050 | RCV001244420; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357836 | 56357836 | | | 6:g.56357836G>A | - | | |
NM_001374736.1(DST):c.20438A>G (p.Asn6813Ser) | 667 | DST | Conflicting interpretations of pathogenicity | rs199628430 | RCV000625438|RCV000801103|RCV001529345|RCV002395638; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 6 | 56357844 | 56357844 | | | NC_000006.11:g.56357844T>C | ClinGen:CA3866746 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | |
NM_001374736.1(DST):c.20426T>C (p.Met6809Thr) | 667 | DST | Uncertain significance | rs781336562 | RCV001242888; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357856 | 56357856 | | | 6:g.56357856A>G | - | | |
NM_001374736.1(DST):c.20412T>C (p.Ala6804=) | 667 | DST | Likely benign | -1 | RCV001400710; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357870 | 56357870 | | | 56357870 | - | | |
NM_001374736.1(DST):c.20398A>G (p.Lys6800Glu) | 667 | DST | Uncertain significance | -1 | RCV001929219; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357884 | 56357884 | | | 56357884 | - | | |
NM_001374736.1(DST):c.20395-17A>C | 667 | DST | Likely benign | -1 | RCV003091858; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357904 | 56357904 | | | NC_000006.11:g.56357904T>G | - | | |
NM_001374736.1(DST):c.20394+20_20394+24del | 667 | DST | Uncertain significance | -1 | RCV002033147; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56358784 | 56358788 | | | 56358783 | - | | |
NM_001374736.1(DST):c.20394+19A>G | 667 | DST | Likely benign | -1 | RCV002076048; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56358789 | 56358789 | | | 56358789 | - | | |
NM_001374736.1(DST):c.20394+14T>C | 667 | DST | Likely benign | -1 | RCV002156137; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56358794 | 56358794 | | | 56358794 | - | | |
NM_001374736.1(DST):c.20392A>G (p.Lys6798Glu) | 667 | DST | Uncertain significance | rs560268832 | RCV001247834|RCV002393660; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56358810 | 56358810 | | | 6:g.56358810T>C | - | | |
NM_001374736.1(DST):c.20384A>G (p.Asn6795Ser) | 667 | DST | Uncertain significance | -1 | RCV001952301|RCV002388839; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56358818 | 56358818 | | | 56358818 | - | | |
NM_001374736.1(DST):c.20382C>G (p.Leu6794=) | 667 | DST | Likely benign | -1 | RCV002194382; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56358820 | 56358820 | | | 56358820 | - | | |
NM_001374736.1(DST):c.20367G>A (p.Ser6789=) | 667 | DST | Likely benign | -1 | RCV001431539; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56358835 | 56358835 | | | 56358835 | - | | |
NM_001374736.1(DST):c.20366C>T (p.Ser6789Leu) | 667 | DST | Uncertain significance | -1 | RCV001894890; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56358836 | 56358836 | | | 56358836 | - | | |
NM_001374736.1(DST):c.20346C>T (p.Asn6782_Leu6783=) | 667 | DST | Benign | rs200110251 | RCV000980179; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56358856 | 56358856 | | | 6:g.56358856G>A | - | | |
NM_001374736.1(DST):c.20345A>C (p.Asn6782Thr) | 667 | DST | Uncertain significance | rs764679996 | RCV001241065; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56358857 | 56358857 | | | 6:g.56358857T>G | - | | |
NM_001374736.1(DST):c.20317G>A (p.Glu6773Lys) | 667 | DST | Uncertain significance | -1 | RCV001978826; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56358885 | 56358885 | | | 56358885 | - | | |
NM_001374736.1(DST):c.20303G>T (p.Cys6768Phe) | 667 | DST | Uncertain significance | rs2095837433 | RCV001244543; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56358899 | 56358899 | | | 6:g.56358899C>A | - | | |
NM_001374736.1(DST):c.20297C>T (p.Ala6766Val) | 667 | DST | Uncertain significance | -1 | RCV003025138; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56358905 | 56358905 | | | NC_000006.11:g.56358905G>A | - | | |
NM_001374736.1(DST):c.20283C>G (p.Gly6761=) | 667 | DST | Likely benign | -1 | RCV001468551; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56358919 | 56358919 | | | 56358919 | - | | |
NM_001374736.1(DST):c.20282G>A (p.Gly6761Asp) | 667 | DST | Uncertain significance | rs746273825 | RCV001294789; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56358920 | 56358920 | | | 56358920 | - | | |
NM_001374736.1(DST):c.20273T>C (p.Met6758Thr) | 667 | DST | Uncertain significance | -1 | RCV001363262; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56358929 | 56358929 | | | 56358929 | - | | |
NM_001374736.1(DST):c.20271G>A (p.Leu6757=) | 667 | DST | Likely benign | -1 | RCV002181967; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56358931 | 56358931 | | | 56358931 | - | | |
NM_001374736.1(DST):c.20265G>A (p.Lys6755=) | 667 | DST | Likely benign | -1 | RCV002153089; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56358937 | 56358937 | | | 56358937 | - | | |
NM_001374736.1(DST):c.20254G>T (p.Glu6752Ter) | 667 | DST | Pathogenic | -1 | RCV002000032; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56358948 | 56358948 | | | 56358948 | - | | |
NM_001374736.1(DST):c.20251G>A (p.Glu6751Lys) | 667 | DST | Uncertain significance | -1 | RCV002396601|RCV003095074; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56358951 | 56358951 | | | 56358951 | - | | |
NM_001374736.1(DST):c.20224-15G>A | 667 | DST | Likely benign | -1 | RCV002116944; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56358993 | 56358993 | | | 56358993 | - | | |
NM_001374736.1(DST):c.20224-18G>C | 667 | DST | Uncertain significance | -1 | RCV003061363; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56358996 | 56358996 | | | NC_000006.11:g.56358996C>G | - | | |
NM_001374736.1(DST):c.20223+20C>G | 667 | DST | Likely benign | -1 | RCV002124390; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362157 | 56362157 | | | 56362157 | - | | |
NM_001374736.1(DST):c.20223+7_20223+8dup | 667 | DST | Likely benign | -1 | RCV001406540; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362167 | 56362168 | | | 56362167 | - | | |
NM_001374736.1(DST):c.20213A>C (p.Asn6738Thr) | 667 | DST | Uncertain significance | rs368434678 | RCV001345882; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362187 | 56362187 | | | 56362187 | - | | |
NM_001374736.1(DST):c.20212A>G (p.Asn6738Asp) | 667 | DST | Uncertain significance | -1 | RCV002396501|RCV003103666; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362188 | 56362188 | | | 56362188 | - | | |
NM_001374736.1(DST):c.20209C>G (p.Leu6737Val) | 667 | DST | Uncertain significance | -1 | RCV002044247; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362191 | 56362191 | | | 56362191 | - | | |
NM_001374736.1(DST):c.20203G>A (p.Glu6735Lys) | 667 | DST | Uncertain significance | -1 | RCV001989329; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362197 | 56362197 | | | 56362197 | - | | |
NM_001374736.1(DST):c.20201A>T (p.Lys6734Met) | 667 | DST | Uncertain significance | rs2095955225 | RCV001242821; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362199 | 56362199 | | | 6:g.56362199T>A | - | | |
NM_001374736.1(DST):c.20190G>A (p.Pro6730=) | 667 | DST | Likely benign | -1 | RCV002152855; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362210 | 56362210 | | | 56362210 | - | | |
NM_001374736.1(DST):c.20189C>T (p.Pro6730Leu) | 667 | DST | Uncertain significance | -1 | RCV001991114; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362211 | 56362211 | | | 56362211 | - | | |
NM_001374736.1(DST):c.20175G>A (p.Pro6725=) | 667 | DST | Likely benign | -1 | RCV001447123; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362225 | 56362225 | | | 56362225 | - | | |
NM_001374736.1(DST):c.20174C>T (p.Pro6725Leu) | 667 | DST | Uncertain significance | rs372733281 | RCV001327019; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362226 | 56362226 | | | 56362226 | - | | |
NM_001374736.1(DST):c.20153G>A (p.Arg6718His) | 667 | DST | Benign | -1 | RCV001514459; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362247 | 56362247 | | | 56362247 | - | | |
NM_001374736.1(DST):c.20148G>A (p.Thr6716=) | 667 | DST | Likely benign | -1 | RCV002144262; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362252 | 56362252 | | | 56362252 | - | | |
NM_001374736.1(DST):c.20147C>T (p.Thr6716Met) | 667 | DST | Uncertain significance | -1 | RCV001984648; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362253 | 56362253 | | | 56362253 | - | | |
NM_001374736.1(DST):c.20119G>C (p.Glu6707Gln) | 667 | DST | Uncertain significance | rs944605347 | RCV000800694; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362281 | 56362281 | | | 6:g.56362281C>G | - | | |
NM_001374736.1(DST):c.20117T>G (p.Ile6706Ser) | 667 | DST | Uncertain significance | -1 | RCV003063543; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362283 | 56362283 | | | NC_000006.11:g.56362283A>C | - | | |
NM_001374736.1(DST):c.20113G>A (p.Glu6705Lys) | 667 | DST | Uncertain significance | rs376734906 | RCV001242892|RCV002379932; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56362287 | 56362287 | | | 6:g.56362287C>T | - | | |
NM_001374736.1(DST):c.20109T>C (p.His6703=) | 667 | DST | Likely benign | -1 | RCV002197607; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362291 | 56362291 | | | 56362291 | - | | |
NM_001374736.1(DST):c.20107C>T (p.His6703Tyr) | 667 | DST | Uncertain significance | rs1464061736 | RCV001343161; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362293 | 56362293 | | | 56362293 | - | | |
NM_001374736.1(DST):c.20106C>T (p.Phe6702=) | 667 | DST | Likely benign | -1 | RCV002156126; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362294 | 56362294 | | | 56362294 | - | | |
NM_001374736.1(DST):c.20097C>T (p.Ala6699=) | 667 | DST | Benign | -1 | RCV001517143; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362303 | 56362303 | | | 56362303 | - | | |
NM_001374736.1(DST):c.20095-18_20095-2dup | 667 | DST | Uncertain significance | -1 | RCV001955090; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362306 | 56362307 | | | 56362306 | - | | |
NM_001374736.1(DST):c.20095-5T>A | 667 | DST | Uncertain significance | rs1259182802 | RCV001306402; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362310 | 56362310 | | | 56362310 | - | | |
NM_001374736.1(DST):c.20095-12C>T | 667 | DST | Likely benign | -1 | RCV002083970; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362317 | 56362317 | | | 56362317 | - | | |
NM_001374736.1(DST):c.20095-20A>G | 667 | DST | Uncertain significance | -1 | RCV003068643; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362325 | 56362325 | | | NC_000006.11:g.56362325T>C | - | | |
NM_001374736.1(DST):c.20094+11G>A | 667 | DST | Likely benign | -1 | RCV002215166; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362643 | 56362643 | | | 56362643 | - | | |
NM_001374736.1(DST):c.20094G>C (p.Gln6698His) | 667 | DST | Uncertain significance | rs2095975052 | RCV001245232; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362654 | 56362654 | | | 6:g.56362654C>G | - | | |
NM_001374736.1(DST):c.20090G>A (p.Arg6697His) | 667 | DST | Uncertain significance | -1 | RCV001872438; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362658 | 56362658 | | | 56362658 | - | | |
NM_001374736.1(DST):c.20083G>A (p.Ala6695Thr) | 667 | DST | Uncertain significance | -1 | RCV001991296; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362665 | 56362665 | | | 56362665 | - | | |
NM_001374736.1(DST):c.20064G>A (p.Arg6688=) | 667 | DST | Likely benign | -1 | RCV001429735; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362684 | 56362684 | | | 56362684 | - | | |
NM_001374736.1(DST):c.20053dup (p.Thr6685fs) | 667 | DST | Pathogenic | rs2095976276 | RCV001241388; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362694 | 56362695 | | | 6:g.56362694_56362695insT | - | | |
NM_001374736.1(DST):c.20049A>G (p.Glu6683=) | 667 | DST | Likely benign | -1 | RCV001467672; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362699 | 56362699 | | | 56362699 | - | | |
NM_001374736.1(DST):c.20039A>G (p.Asn6680Ser) | 667 | DST | Uncertain significance | -1 | RCV002643279; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362709 | 56362709 | | | NC_000006.11:g.56362709T>C | - | | |
NM_001374736.1(DST):c.20030G>A (p.Arg6677His) | 667 | DST | Uncertain significance | rs748356651 | RCV001239302; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362718 | 56362718 | | | 6:g.56362718C>T | - | | |
NM_001374736.1(DST):c.20029C>T (p.Arg6677Cys) | 667 | DST | Uncertain significance | rs367862312 | RCV001246065|RCV002379942; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56362719 | 56362719 | | | 6:g.56362719G>A | - | | |
NM_001374736.1(DST):c.20026C>A (p.Gln6676Lys) | 667 | DST | Uncertain significance | -1 | RCV001363708; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362722 | 56362722 | | | 56362722 | - | | |
NM_001374736.1(DST):c.20024A>G (p.Asn6675Ser) | 667 | DST | Uncertain significance | rs1282843908 | RCV001243636; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362724 | 56362724 | | | 6:g.56362724T>C | - | | |
NM_001374736.1(DST):c.20003A>G (p.Gln6668Arg) | 667 | DST | Uncertain significance | -1 | RCV001961409; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362745 | 56362745 | | | 56362745 | - | | |
NM_001374736.1(DST):c.19984G>A (p.Glu6662Lys) | 667 | DST | Uncertain significance | -1 | RCV002030811; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362764 | 56362764 | | | 56362764 | - | | |
NM_001374736.1(DST):c.19978G>T (p.Ala6660Ser) | 667 | DST | Uncertain significance | -1 | RCV001363873; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362770 | 56362770 | | | 56362770 | - | | |
NM_001374736.1(DST):c.19971A>T (p.Glu6657Asp) | 667 | DST | Uncertain significance | -1 | RCV003067664; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362777 | 56362777 | | | NC_000006.11:g.56362777T>A | - | | |
NM_001374736.1(DST):c.19967T>C (p.Ile6656Thr) | 667 | DST | Uncertain significance | -1 | RCV001918302|RCV002386705; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56362781 | 56362781 | | | 56362781 | - | | |
NM_001374736.1(DST):c.19942G>A (p.Val6648Ile) | 667 | DST | Uncertain significance | rs754970520 | RCV001345407|RCV002384475; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56362806 | 56362806 | | | 56362806 | - | | |
NM_001374736.1(DST):c.19941C>T (p.Ala6647=) | 667 | DST | Likely benign | -1 | RCV001450812; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362807 | 56362807 | | | 56362807 | - | | |
NM_001374736.1(DST):c.19941C>A (p.Ala6647=) | 667 | DST | Likely benign | -1 | RCV002088447; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362807 | 56362807 | | | 56362807 | - | | |
NM_001374736.1(DST):c.19914A>G (p.Val6638=) | 667 | DST | Benign | -1 | RCV001517083; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362834 | 56362834 | | | 56362834 | - | | |
NM_001374736.1(DST):c.19902C>T (p.Leu6634=) | 667 | DST | Likely benign | -1 | RCV002202918; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362846 | 56362846 | | | 56362846 | - | | |
NM_001374736.1(DST):c.19896+20T>C | 667 | DST | Uncertain significance | -1 | RCV003067889; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56365858 | 56365858 | | | NC_000006.11:g.56365858A>G | - | | |
NM_001374736.1(DST):c.19896+9C>T | 667 | DST | Likely benign | -1 | RCV002123919; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56365869 | 56365869 | | | 56365869 | - | | |
NM_001374736.1(DST):c.19896+4C>T | 667 | DST | Uncertain significance | rs368685568 | RCV001309254|RCV002384383; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56365874 | 56365874 | | | 56365874 | - | | |
NM_001374736.1(DST):c.19893T>C (p.His6631=) | 667 | DST | Likely benign | -1 | RCV001461935; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56365881 | 56365881 | | | 56365881 | - | | |
NM_001374736.1(DST):c.19858G>A (p.Asp6620Asn) | 667 | DST | Uncertain significance | rs2096107643 | RCV001243164; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56365916 | 56365916 | | | 6:g.56365916C>T | - | | |
NM_001374736.1(DST):c.19846C>T (p.Pro6616Ser) | 667 | DST | Uncertain significance | -1 | RCV002581525; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56365928 | 56365928 | | | NC_000006.11:g.56365928G>A | - | | |
NM_001374736.1(DST):c.19842G>T (p.Gln6614His) | 667 | DST | Uncertain significance | rs376562335 | RCV001241127|RCV002379923; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56365932 | 56365932 | | | 6:g.56365932C>A | - | | |
NM_001374736.1(DST):c.19824G>A (p.Glu6608_Gly6609=) | 667 | DST | Uncertain significance | -1 | RCV003067299; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56365950 | 56365950 | | | NC_000006.11:g.56365950C>T | - | | |
NM_001374736.1(DST):c.19822G>A (p.Glu6608Lys) | 667 | DST | Uncertain significance | rs752623511 | RCV001245369; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56365952 | 56365952 | | | 6:g.56365952C>T | - | | |
NM_001374736.1(DST):c.19821C>T (p.Thr6607=) | 667 | DST | Likely benign | -1 | RCV001409233; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56365953 | 56365953 | | | 56365953 | - | | |
NM_001374736.1(DST):c.19821C>G (p.Thr6607=) | 667 | DST | Likely benign | -1 | RCV001435078; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56365953 | 56365953 | | | 56365953 | - | | |
NM_001374736.1(DST):c.19820C>G (p.Thr6607Ser) | 667 | DST | Uncertain significance | rs911141337 | RCV001326128; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56365954 | 56365954 | | | 56365954 | - | | |
NM_001374736.1(DST):c.19820C>A (p.Thr6607Asn) | 667 | DST | Uncertain significance | -1 | RCV002574788; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56365954 | 56365954 | | | NC_000006.11:g.56365954G>T | - | | |
NM_001374736.1(DST):c.19815A>G (p.Thr6605=) | 667 | DST | Likely benign | -1 | RCV001416844; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56365959 | 56365959 | | | 56365959 | - | | |
NM_001374736.1(DST):c.19782A>G (p.Gln6594=) | 667 | DST | Likely benign | -1 | RCV002079868; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56365992 | 56365992 | | | 56365992 | - | | |
NM_001374736.1(DST):c.19776G>A (p.Gln6592=) | 667 | DST | Likely benign | -1 | RCV002085322; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56365998 | 56365998 | | | 56365998 | - | | |
NM_001374736.1(DST):c.19766C>T (p.Ala6589Val) | 667 | DST | Uncertain significance | -1 | RCV002615997; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56366008 | 56366008 | | | NC_000006.11:g.56366008G>A | - | | |
NM_001374736.1(DST):c.19761A>G (p.Leu6587=) | 667 | DST | Likely benign | -1 | RCV001455218; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56366013 | 56366013 | | | 56366013 | - | | |
NM_001374736.1(DST):c.19758T>C (p.Ala6586_Leu6587=) | 667 | DST | Uncertain significance | -1 | RCV003057402; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56366016 | 56366016 | | | NC_000006.11:g.56366016A>G | - | | |
NM_001374736.1(DST):c.19741-7del | 667 | DST | Likely benign | -1 | RCV001467254; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56366040 | 56366040 | | | 56366039 | - | | |
NM_001374736.1(DST):c.19740+19_19740+59del | 667 | DST | Uncertain significance | -1 | RCV001926265; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56366259 | 56366299 | | | 56366258 | - | | |
NM_001374736.1(DST):c.19740+17_19740+18del | 667 | DST | Uncertain significance | -1 | RCV003009927; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56366300 | 56366301 | | | NC_000006.11:g.56366302_56366303del | - | | |
NM_001374736.1(DST):c.19733A>G (p.Asn6578Ser) | 667 | DST | Uncertain significance | -1 | RCV001864606; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56366325 | 56366325 | | | 56366325 | - | | |
NM_001374736.1(DST):c.19720G>A (p.Glu6574Lys) | 667 | DST | Uncertain significance | -1 | RCV002690923; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56366338 | 56366338 | | | NC_000006.11:g.56366338C>T | - | | |
NM_001374736.1(DST):c.19708G>A (p.Asp6570Asn) | 667 | DST | Uncertain significance | -1 | RCV003095365; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56366350 | 56366350 | | | NC_000006.11:g.56366350C>T | - | | |
NM_001374736.1(DST):c.19705T>G (p.Trp6569Gly) | 667 | DST | Uncertain significance | -1 | RCV002646733; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56366353 | 56366353 | | | NC_000006.11:g.56366353A>C | - | | |
NM_001374736.1(DST):c.19698A>G (p.Lys6566=) | 667 | DST | Likely benign | -1 | RCV001487341; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56366360 | 56366360 | | | 56366360 | - | | |
NM_001374736.1(DST):c.19695G>A (p.Leu6565_Lys6566=) | 667 | DST | Uncertain significance | -1 | RCV002597599; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56366363 | 56366363 | | | NC_000006.11:g.56366363C>T | - | | |
NM_001374736.1(DST):c.19693C>T (p.Leu6565=) | 667 | DST | Likely benign | -1 | RCV001465487; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56366365 | 56366365 | | | 56366365 | - | | |
NM_001374736.1(DST):c.19689G>A (p.Met6563Ile) | 667 | DST | Uncertain significance | rs1488090620 | RCV001303269; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56366369 | 56366369 | | | 56366369 | - | | |
NM_001374736.1(DST):c.19683A>G (p.Pro6561=) | 667 | DST | Likely benign | -1 | RCV001498984; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56366375 | 56366375 | | | 56366375 | - | | |
NM_001374736.1(DST):c.19656G>C (p.Glu6552Asp) | 667 | DST | Uncertain significance | rs199549741 | RCV000813415|RCV002381815; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56366402 | 56366402 | | | 6:g.56366402C>G | - | | |
NM_001374736.1(DST):c.19649C>T (p.Thr6550Ile) | 667 | DST | Uncertain significance | -1 | RCV001932182; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56366409 | 56366409 | | | 56366409 | - | | |
NM_001374736.1(DST):c.19648A>G (p.Thr6550Ala) | 667 | DST | Benign/Likely benign | rs147983675 | RCV000979190|RCV002259374; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56366410 | 56366410 | | | 6:g.56366410T>C | - | | |
NM_001374736.1(DST):c.19630C>T (p.Leu6544Phe) | 667 | DST | Uncertain significance | rs1314348115 | RCV001240273; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56366428 | 56366428 | | | 6:g.56366428G>A | - | | |
NM_001374736.1(DST):c.19630C>G (p.Leu6544Val) | 667 | DST | Uncertain significance | rs1314348115 | RCV001248122; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56366428 | 56366428 | | | 6:g.56366428G>C | - | | |
NM_001374736.1(DST):c.19604T>C (p.Met6535Thr) | 667 | DST | Uncertain significance | rs1371787646 | RCV001327629; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56366454 | 56366454 | | | 56366454 | - | | |
NM_001374736.1(DST):c.19594C>G (p.Gln6532Glu) | 667 | DST | Uncertain significance | -1 | RCV001891932; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56366464 | 56366464 | | | 56366464 | - | | |
NM_001374736.1(DST):c.19590A>G (p.Gln6530=) | 667 | DST | Likely benign | -1 | RCV002204038; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56366468 | 56366468 | | | 56366468 | - | | |
NM_001374736.1(DST):c.19582G>A (p.Ala6528Thr) | 667 | DST | Uncertain significance | -1 | RCV002013600; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56366476 | 56366476 | | | 56366476 | - | | |
NM_001374736.1(DST):c.19566+15T>C | 667 | DST | Likely benign | -1 | RCV002094222; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56368780 | 56368780 | | | 56368780 | - | | |
NM_001374736.1(DST):c.19566+11G>A | 667 | DST | Likely benign | -1 | RCV002178184; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56368784 | 56368784 | | | 56368784 | - | | |
NM_001374736.1(DST):c.19566+7G>T | 667 | DST | Likely benign | -1 | RCV001477825; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56368788 | 56368788 | | | 56368788 | - | | |
NM_001374736.1(DST):c.19560G>A (p.Glu6520=) | 667 | DST | Likely benign | -1 | RCV002120252; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56368801 | 56368801 | | | 56368801 | - | | |
NM_001374736.1(DST):c.19559A>T (p.Glu6520Val) | 667 | DST | Uncertain significance | -1 | RCV002806733; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56368802 | 56368802 | | | NC_000006.11:g.56368802T>A | - | | |
NM_001374736.1(DST):c.19558G>C (p.Glu6520Gln) | 667 | DST | Uncertain significance | -1 | RCV002755646; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56368803 | 56368803 | | | NC_000006.11:g.56368803C>G | - | | |
NM_001374736.1(DST):c.19554T>G (p.Ile6518Met) | 667 | DST | Uncertain significance | -1 | RCV003064165; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56368807 | 56368807 | | | NC_000006.11:g.56368807A>C | - | | |
NM_001374736.1(DST):c.19553T>C (p.Ile6518Thr) | 667 | DST | Uncertain significance | rs781138348 | RCV001245857; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56368808 | 56368808 | | | 6:g.56368808A>G | - | | |
NM_001374736.1(DST):c.19538C>T (p.Thr6513Ile) | 667 | DST | Uncertain significance | rs200108872 | RCV001322473; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56368823 | 56368823 | | | 56368823 | - | | |
NM_001374736.1(DST):c.19538C>A (p.Thr6513Asn) | 667 | DST | Uncertain significance | -1 | RCV002010953; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56368823 | 56368823 | | | 56368823 | - | | |
NM_001374736.1(DST):c.19536A>G (p.Glu6512_Thr6513=) | 667 | DST | Likely benign | -1 | RCV003060703; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56368825 | 56368825 | | | NC_000006.11:g.56368825T>C | - | | |
NM_001374736.1(DST):c.19533C>T (p.Leu6511=) | 667 | DST | Likely benign | -1 | RCV002176420; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56368828 | 56368828 | | | 56368828 | - | | |
NM_001374736.1(DST):c.19509A>G (p.Ser6503_Met6504=) | 667 | DST | Uncertain significance | -1 | RCV003093483; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56368852 | 56368852 | | | NC_000006.11:g.56368852T>C | - | | |
NM_001374736.1(DST):c.19491A>G (p.Ala6497=) | 667 | DST | Likely benign | rs1583341150 | RCV000980441|RCV001407451; | N | MedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56368870 | 56368870 | | | 6:g.56368870T>C | - | | |
NM_001374736.1(DST):c.19470A>G (p.Val6490=) | 667 | DST | Likely benign | -1 | RCV001435148; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56368891 | 56368891 | | | 56368891 | - | | |
NM_001374736.1(DST):c.19467G>A (p.Ala6489=) | 667 | DST | Uncertain significance | -1 | RCV002022199; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56368894 | 56368894 | | | 56368894 | - | | |
NM_001374736.1(DST):c.19466C>T (p.Ala6489Val) | 667 | DST | Uncertain significance | rs766294952 | RCV001239368|RCV001261749|RCV002379913; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181||MeSH:D030342,MedGen:C0950123 | 6 | 56368895 | 56368895 | | | 6:g.56368895G>A | - | | |
NM_001374736.1(DST):c.19465-8T>C | 667 | DST | Uncertain significance | -1 | RCV002947569; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56368904 | 56368904 | | | NC_000006.11:g.56368904A>G | - | | |
NM_001374736.1(DST):c.19465-15G>A | 667 | DST | Uncertain significance | -1 | RCV003093653; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56368911 | 56368911 | | | NC_000006.11:g.56368911C>T | - | | |
NM_001374736.1(DST):c.19465-19G>T | 667 | DST | Likely benign | -1 | RCV001904759; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56368915 | 56368915 | | | 56368915 | - | | |
NM_001374736.1(DST):c.19464+19A>G | 667 | DST | Uncertain significance | -1 | RCV003077871; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371222 | 56371222 | | | NC_000006.11:g.56371222T>C | - | | |
NM_001374736.1(DST):c.19464+16T>C | 667 | DST | Likely benign | -1 | RCV002107838; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371225 | 56371225 | | | 56371225 | - | | |
NM_001374736.1(DST):c.19464+1G>A | 667 | DST | Likely pathogenic | -1 | RCV003033066; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371240 | 56371240 | | | NC_000006.11:g.56371240C>T | - | | |
NM_001374736.1(DST):c.19453G>T (p.Asp6485Tyr) | 667 | DST | Uncertain significance | rs2096316666 | RCV001246466; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371252 | 56371252 | | | 6:g.56371252C>A | - | | |
NM_001374736.1(DST):c.19441G>A (p.Val6481Ile) | 667 | DST | Uncertain significance | -1 | RCV001962441; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371264 | 56371264 | | | 56371264 | - | | |
NM_001374736.1(DST):c.19440C>T (p.Ala6480=) | 667 | DST | Likely benign | -1 | RCV002100948; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371265 | 56371265 | | | 56371265 | - | | |
NM_001374736.1(DST):c.19420G>A (p.Glu6474Lys) | 667 | DST | Uncertain significance | -1 | RCV003121377; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371285 | 56371285 | | | NC_000006.11:g.56371285C>T | - | | |
NM_001374736.1(DST):c.19415A>G (p.Lys6472Arg) | 667 | DST | Conflicting interpretations of pathogenicity | -1 | RCV001952078|RCV002386732; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56371290 | 56371290 | | | 56371290 | - | | |
NM_001374736.1(DST):c.19409T>C (p.Ile6470Thr) | 667 | DST | Uncertain significance | -1 | RCV001954240; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371296 | 56371296 | | | 56371296 | - | | |
NM_001374736.1(DST):c.19406G>A (p.Arg6469Gln) | 667 | DST | Uncertain significance | rs767731448 | RCV002379943|RCV001246531; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371299 | 56371299 | | | 6:g.56371299C>T | - | | |
NM_001374736.1(DST):c.19392A>G (p.Lys6464=) | 667 | DST | Uncertain significance | rs2096318328 | RCV001248467; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371313 | 56371313 | | | 6:g.56371313T>C | - | | |
NM_001374736.1(DST):c.19363-14C>A | 667 | DST | Uncertain significance | -1 | RCV003081732; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371356 | 56371356 | | | NC_000006.11:g.56371356G>T | - | | |
NM_001374736.1(DST):c.19362+15_19362+18del | 667 | DST | Uncertain significance | -1 | RCV003081452; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371447 | 56371450 | | | NC_000006.11:g.56371447TAAG[1] | - | | |
NM_001374736.1(DST):c.19362+8T>G | 667 | DST | Likely benign | -1 | RCV001472923; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371457 | 56371457 | | | 56371457 | - | | |
NM_001374736.1(DST):c.19356A>G (p.Ile6452Met) | 667 | DST | Uncertain significance | rs2096326322 | RCV001294444; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371471 | 56371471 | | | 56371471 | - | | |
NM_001374736.1(DST):c.19351A>G (p.Ser6451Gly) | 667 | DST | Uncertain significance | -1 | RCV003092225; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371476 | 56371476 | | | NC_000006.11:g.56371476T>C | - | | |
NM_001374736.1(DST):c.19346A>G (p.Lys6449Arg) | 667 | DST | Uncertain significance | rs775631178 | RCV001319144; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371481 | 56371481 | | | 56371481 | - | | |
NM_001374736.1(DST):c.19345A>T (p.Lys6449Ter) | 667 | DST | Pathogenic/Likely pathogenic | rs1562435373 | RCV000754992; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371482 | 56371482 | | | NC_000006.11:g.56371482T>A | OMIM:113810.0004 | | |
NM_001374736.1(DST):c.19344C>A (p.Val6448_Lys6449=) | 667 | DST | Benign | rs201031760 | RCV000979004; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371483 | 56371483 | | | 6:g.56371483G>T | - | | |
NM_001374736.1(DST):c.19339A>G (p.Ile6447Val) | 667 | DST | Uncertain significance | -1 | RCV001896165; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371488 | 56371488 | | | 56371488 | - | | |
NM_001374736.1(DST):c.19337C>T (p.Pro6446Leu) | 667 | DST | Uncertain significance | -1 | RCV002005197; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371490 | 56371490 | | | 56371490 | - | | |
NM_001374736.1(DST):c.19332T>C (p.Asp6444=) | 667 | DST | Likely benign | -1 | RCV001424427; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371495 | 56371495 | | | 56371495 | - | | |
NM_001374736.1(DST):c.19322G>A (p.Gly6441Glu) | 667 | DST | Uncertain significance | -1 | RCV001771546|RCV001885057; | N | MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371505 | 56371505 | | | 56371505 | - | | |
NM_001374736.1(DST):c.19320T>C (p.Cys6440=) | 667 | DST | Likely benign | -1 | RCV002158521; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371507 | 56371507 | | | 56371507 | - | | |
NM_001374736.1(DST):c.19317A>G (p.Ala6439=) | 667 | DST | Likely benign | -1 | RCV001467255; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371510 | 56371510 | | | 56371510 | - | | |
NM_001374736.1(DST):c.19314G>A (p.Ala6438=) | 667 | DST | Uncertain significance | -1 | RCV001925513; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371513 | 56371513 | | | 56371513 | - | | |
NM_001374736.1(DST):c.19313C>T (p.Ala6438Val) | 667 | DST | Uncertain significance | -1 | RCV001972990; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371514 | 56371514 | | | 56371514 | - | | |
NM_001374736.1(DST):c.19306C>G (p.Leu6436Val) | 667 | DST | Uncertain significance | -1 | RCV002626819; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371521 | 56371521 | | | NC_000006.11:g.56371521G>C | - | | |
NM_001374736.1(DST):c.19300T>A (p.Ser6434Thr) | 667 | DST | Uncertain significance | -1 | RCV003027757; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371527 | 56371527 | | | NC_000006.11:g.56371527A>T | - | | |
NM_001374736.1(DST):c.19294C>G (p.Leu6432Val) | 667 | DST | Uncertain significance | rs1463615455 | RCV001348488; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371533 | 56371533 | | | 56371533 | - | | |
NM_001374736.1(DST):c.19272G>T (p.Glu6424Asp) | 667 | DST | Uncertain significance | rs2096328571 | RCV001242822; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371555 | 56371555 | | | 6:g.56371555C>A | - | | |
NM_001374736.1(DST):c.19240-10C>G | 667 | DST | Likely benign | -1 | RCV002119953; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371597 | 56371597 | | | 56371597 | - | | |
NM_001374736.1(DST):c.19240-15A>G | 667 | DST | Likely benign | -1 | RCV002093384; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371602 | 56371602 | | | 56371602 | - | | |
NM_001374736.1(DST):c.19239+10A>T | 667 | DST | Likely benign | rs767526367 | RCV000979186|RCV001415831; | N | MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56373317 | 56373317 | | | 6:g.56373317T>A | - | | |
NM_001374736.1(DST):c.19233A>G (p.Ala6411=) | 667 | DST | Likely benign | -1 | RCV001395943; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373333 | 56373333 | | | 56373333 | - | | |
NM_001374736.1(DST):c.19230A>G (p.Glu6410=) | 667 | DST | Likely benign | -1 | RCV001444665; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373336 | 56373336 | | | 56373336 | - | | |
NM_001374736.1(DST):c.19213G>A (p.Val6405Ile) | 667 | DST | Uncertain significance | rs2096396105 | RCV001316932; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373353 | 56373353 | | | 56373353 | - | | |
NM_001374736.1(DST):c.19212A>G (p.Val6404=) | 667 | DST | Uncertain significance | -1 | RCV001999457; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56373354 | 56373354 | | | 56373354 | - | | |
NM_001374736.1(DST):c.19211T>G (p.Val6404Gly) | 667 | DST | Uncertain significance | -1 | RCV001962431; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373355 | 56373355 | | | 56373355 | - | | |
NM_001374736.1(DST):c.19210G>A (p.Val6404Ile) | 667 | DST | Uncertain significance | rs773401291 | RCV001239171; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373356 | 56373356 | | | 6:g.56373356C>T | - | | |
NM_001374736.1(DST):c.19192C>A (p.Pro6398Thr) | 667 | DST | Uncertain significance | -1 | RCV001956989; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56373374 | 56373374 | | | 56373374 | - | | |
NM_001374736.1(DST):c.19183C>T (p.Leu6395_Glu6396=) | 667 | DST | Uncertain significance | -1 | RCV003089773; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373383 | 56373383 | | | NC_000006.11:g.56373383G>A | - | | |
NM_001374736.1(DST):c.19178G>A (p.Arg6393Gln) | 667 | DST | Uncertain significance | rs759918675 | RCV002379946|RCV001246651; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373388 | 56373388 | | | 6:g.56373388C>T | - | | |
NM_001374736.1(DST):c.19177C>T (p.Arg6393Trp) | 667 | DST | Uncertain significance | -1 | RCV002027538; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56373389 | 56373389 | | | 56373389 | - | | |
NM_001374736.1(DST):c.19175T>C (p.Ile6392Thr) | 667 | DST | Uncertain significance | -1 | RCV001919427; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373391 | 56373391 | | | 56373391 | - | | |
NM_001374736.1(DST):c.19168G>A (p.Asp6390Asn) | 667 | DST | Uncertain significance | -1 | RCV002995233; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56373398 | 56373398 | | | NC_000006.11:g.56373398C>T | - | | |
NM_001374736.1(DST):c.19160A>T (p.Asp6387Val) | 667 | DST | Uncertain significance | -1 | RCV002889440; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373406 | 56373406 | | | NC_000006.11:g.56373406T>A | - | | |
NM_001374736.1(DST):c.19141T>C (p.Leu6381=) | 667 | DST | Likely benign | -1 | RCV001451708; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56373425 | 56373425 | | | 56373425 | - | | |
NM_001374736.1(DST):c.19135A>T (p.Met6379Leu) | 667 | DST | Uncertain significance | -1 | RCV001373555; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373431 | 56373431 | | | 56373431 | - | | |
NM_001374736.1(DST):c.19125G>T (p.Trp6375Cys) | 667 | DST | Uncertain significance | -1 | RCV002825456; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56373441 | 56373441 | | | NC_000006.11:g.56373441C>A | - | | |
NM_001374736.1(DST):c.19111G>A (p.Ala6371Thr) | 667 | DST | Uncertain significance | -1 | RCV001920777; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373455 | 56373455 | | | 56373455 | - | | |
NM_001374736.1(DST):c.19108C>G (p.Leu6370Val) | 667 | DST | Uncertain significance | rs2096398026 | RCV001299561; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373458 | 56373458 | | | 56373458 | - | | |
NM_001374736.1(DST):c.19102A>G (p.Met6368Val) | 667 | DST | Uncertain significance | -1 | RCV002049214; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56373464 | 56373464 | | | 56373464 | - | | |
NM_001374736.1(DST):c.19095G>T (p.Leu6365=) | 667 | DST | Likely benign | -1 | RCV001481542; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56373471 | 56373471 | | | 56373471 | - | | |
NM_001374736.1(DST):c.19088A>C (p.Lys6363Thr) | 667 | DST | Uncertain significance | -1 | RCV001991609; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56373478 | 56373478 | | | 56373478 | - | | |
NM_001374736.1(DST):c.19074A>G (p.Glu6358=) | 667 | DST | Likely benign | -1 | RCV002184391; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56373492 | 56373492 | | | 56373492 | - | | |
NM_001374736.1(DST):c.19058T>G (p.Ile6353Arg) | 667 | DST | Uncertain significance | -1 | RCV002770947; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56373508 | 56373508 | | | NC_000006.11:g.56373508A>C | - | | |
NM_001374736.1(DST):c.19056C>T (p.Asn6352=) | 667 | DST | Likely benign | -1 | RCV001470385; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373510 | 56373510 | | | 56373510 | - | | |
NM_001374736.1(DST):c.19047T>C (p.Ile6349=) | 667 | DST | Likely benign | -1 | RCV001451856; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373519 | 56373519 | | | 56373519 | - | | |
NM_001374736.1(DST):c.19042T>G (p.Phe6348Val) | 667 | DST | Uncertain significance | -1 | RCV001986768; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373524 | 56373524 | | | 56373524 | - | | |
NM_001374736.1(DST):c.19030G>A (p.Asp6344Asn) | 667 | DST | Benign | -1 | RCV001420700|RCV001534960|RCV001514392; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56373536 | 56373536 | | | 56373536 | - | | |
NM_001374736.1(DST):c.19013-7T>C | 667 | DST | Likely benign | -1 | RCV001430616; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373560 | 56373560 | | | 56373560 | - | | |
NM_001374736.1(DST):c.19013-19A>T | 667 | DST | Likely benign | -1 | RCV003072254; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56373572 | 56373572 | | | NC_000006.11:g.56373572T>A | - | | |
NM_001374736.1(DST):c.19012+20G>T | 667 | DST | Uncertain significance | -1 | RCV001980153; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56374420 | 56374420 | | | 56374420 | - | | |
NM_001374736.1(DST):c.19012+15A>G | 667 | DST | Likely benign | -1 | RCV003076901; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56374425 | 56374425 | | | NC_000006.11:g.56374425T>C | - | | |
NM_001374736.1(DST):c.19009A>G (p.Lys6337Glu) | 667 | DST | Uncertain significance | rs2096426641 | RCV001326609; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56374443 | 56374443 | | | 56374443 | - | | |
NM_001374736.1(DST):c.19001T>C (p.Ile6334Thr) | 667 | DST | Uncertain significance | -1 | RCV001988696; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56374451 | 56374451 | | | 56374451 | - | | |
NM_001374736.1(DST):c.18976A>G (p.Arg6326Gly) | 667 | DST | Uncertain significance | -1 | RCV002796566; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56374476 | 56374476 | | | NC_000006.11:g.56374476T>C | - | | |
NM_001374736.1(DST):c.18962A>G (p.Glu6321Gly) | 667 | DST | Uncertain significance | -1 | RCV002008030; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56374490 | 56374490 | | | 56374490 | - | | |
NM_001374736.1(DST):c.18938A>G (p.Tyr6313Cys) | 667 | DST | Uncertain significance | rs781596409 | RCV001239300|RCV002261316; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56374514 | 56374514 | | | 6:g.56374514T>C | - | | |
NM_001374736.1(DST):c.18921A>G (p.Glu6307=) | 667 | DST | Likely benign | -1 | RCV001450322; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56374531 | 56374531 | | | 56374531 | - | | |
NM_001374736.1(DST):c.18918G>C (p.Met6306Ile) | 667 | DST | Uncertain significance | -1 | RCV001921068; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56374534 | 56374534 | | | 56374534 | - | | |
NM_001374736.1(DST):c.18917T>C (p.Met6306Thr) | 667 | DST | Uncertain significance | rs771484088 | RCV001297034; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56374535 | 56374535 | | | 56374535 | - | | |
NM_001374736.1(DST):c.18908C>T (p.Ser6303Leu) | 667 | DST | Uncertain significance | rs775490741 | RCV001242625; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56374544 | 56374544 | | | 6:g.56374544G>A | - | | |
NM_001374736.1(DST):c.18893A>G (p.Glu6298Gly) | 667 | DST | Uncertain significance | -1 | RCV002816567; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56374559 | 56374559 | | | NC_000006.11:g.56374559T>C | - | | |
NM_001374736.1(DST):c.18890G>T (p.Ser6297Ile) | 667 | DST | Uncertain significance | rs2096429215 | RCV001240213; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56374562 | 56374562 | | | 6:g.56374562C>A | - | | |
NM_001374736.1(DST):c.18888C>T (p.Ile6296=) | 667 | DST | Likely benign | -1 | RCV001441421; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56374564 | 56374564 | | | 56374564 | - | | |
NM_001374736.1(DST):c.18885G>T (p.Gln6295His) | 667 | DST | Uncertain significance | -1 | RCV002979191; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56374567 | 56374567 | | | NC_000006.11:g.56374567C>A | - | | |
NM_001374736.1(DST):c.18883C>G (p.Gln6295Glu) | 667 | DST | Uncertain significance | rs2096429659 | RCV001351072; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56374569 | 56374569 | | | 56374569 | - | | |
NM_001374736.1(DST):c.18882A>G (p.Glu6294=) | 667 | DST | Likely benign | -1 | RCV001432501; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56374570 | 56374570 | | | 56374570 | - | | |
NM_001374736.1(DST):c.18849C>G (p.Pro6283=) | 667 | DST | Likely benign | -1 | RCV001482930; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56374603 | 56374603 | | | 56374603 | - | | |
NM_001374736.1(DST):c.18847C>A (p.Pro6283Thr) | 667 | DST | Uncertain significance | rs2096430348 | RCV001244545; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56374605 | 56374605 | | | 6:g.56374605G>T | - | | |
NM_001374736.1(DST):c.18838A>C (p.Arg6280=) | 667 | DST | Likely benign | -1 | RCV001420016; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56374614 | 56374614 | | | 56374614 | - | | |
NM_001374736.1(DST):c.18836T>A (p.Leu6279Gln) | 667 | DST | Uncertain significance | -1 | RCV001934242; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56374616 | 56374616 | | | 56374616 | - | | |
NM_001374736.1(DST):c.18826G>A (p.Val6276Met) | 667 | DST | Uncertain significance | rs377620360 | RCV001245645; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56374626 | 56374626 | | | 6:g.56374626C>T | - | | |
NM_001374736.1(DST):c.18825C>T (p.Ile6275=) | 667 | DST | Likely benign | -1 | RCV001402494; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56374627 | 56374627 | | | 56374627 | - | | |
NM_001374736.1(DST):c.18820C>T (p.Arg6274Cys) | 667 | DST | Uncertain significance | -1 | RCV001922266; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56374632 | 56374632 | | | 56374632 | - | | |
NM_001374736.1(DST):c.18801G>T (p.Gln6267His) | 667 | DST | Uncertain significance | rs778466743 | RCV001344285|RCV002395753; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56374651 | 56374651 | | | 56374651 | - | | |
NM_001374736.1(DST):c.18788A>G (p.Asp6263Gly) | 667 | DST | Uncertain significance | -1 | RCV001915993; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56374664 | 56374664 | | | 56374664 | - | | |
NM_001374736.1(DST):c.18780+20A>G | 667 | DST | Likely benign | -1 | RCV002213461; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56375975 | 56375975 | | | 56375975 | - | | |
NM_001374736.1(DST):c.18780+14C>G | 667 | DST | Likely benign | -1 | RCV001956711; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56375981 | 56375981 | | | 56375981 | - | | |
NM_001374736.1(DST):c.18777T>C (p.Thr6259=) | 667 | DST | Likely benign | -1 | RCV002209022; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56375998 | 56375998 | | | 56375998 | - | | |
NM_001374736.1(DST):c.18775A>G (p.Thr6259Ala) | 667 | DST | Uncertain significance | -1 | RCV002004924; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56376000 | 56376000 | | | 56376000 | - | | |
NM_001374736.1(DST):c.18771A>G (p.Gln6257=) | 667 | DST | Likely benign | -1 | RCV002116762; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56376004 | 56376004 | | | 56376004 | - | | |
NM_001374736.1(DST):c.18754G>A (p.Asp6252Asn) | 667 | DST | Likely benign | -1 | RCV001441806; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56376021 | 56376021 | | | 56376021 | - | | |
NM_001374736.1(DST):c.18750A>G (p.Ala6250=) | 667 | DST | Likely benign | -1 | RCV002088657; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56376025 | 56376025 | | | 56376025 | - | | |
NM_001374736.1(DST):c.18747G>A (p.Val6249=) | 667 | DST | Likely benign | -1 | RCV001465895; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56376028 | 56376028 | | | 56376028 | - | | |
NM_001374736.1(DST):c.18740G>A (p.Arg6247His) | 667 | DST | Uncertain significance | rs368560111 | RCV001244949; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56376035 | 56376035 | | | 6:g.56376035C>T | - | | |
NM_001374736.1(DST):c.18739C>T (p.Arg6247Cys) | 667 | DST | Uncertain significance | -1 | RCV001926296; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56376036 | 56376036 | | | 56376036 | - | | |
NM_001374736.1(DST):c.18736A>G (p.Lys6246Glu) | 667 | DST | Uncertain significance | -1 | RCV003081457; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56376039 | 56376039 | | | NC_000006.11:g.56376039T>C | - | | |
NM_001374736.1(DST):c.18731T>A (p.Val6244Asp) | 667 | DST | Uncertain significance | -1 | RCV002781123; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56376044 | 56376044 | | | NC_000006.11:g.56376044A>T | - | | |
NM_001374736.1(DST):c.18715C>T (p.Gln6239Ter) | 667 | DST | Pathogenic | rs2096469777 | RCV001248592; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56376060 | 56376060 | | | 6:g.56376060G>A | - | | |
NM_001374736.1(DST):c.18702C>T (p.Asp6234=) | 667 | DST | Likely benign | -1 | RCV001483483; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56376073 | 56376073 | | | 56376073 | - | | |
NM_001374736.1(DST):c.18701A>G (p.Asp6234Gly) | 667 | DST | Uncertain significance | -1 | RCV001359473; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56376074 | 56376074 | | | 56376074 | - | | |
NM_001374736.1(DST):c.18700G>A (p.Asp6234Asn) | 667 | DST | Uncertain significance | rs753185411 | RCV001295126; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56376075 | 56376075 | | | 56376075 | - | | |
NM_001374736.1(DST):c.18699C>T (p.Ala6233_Asp6234=) | 667 | DST | Likely benign | rs373689917 | RCV000979184; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56376076 | 56376076 | | | 6:g.56376076G>A | - | | |
NM_001374736.1(DST):c.18695C>T (p.Ala6232Val) | 667 | DST | Uncertain significance | -1 | RCV001373937; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56376080 | 56376080 | | | 56376080 | - | | |
NM_001374736.1(DST):c.18684G>A (p.Glu6228=) | 667 | DST | Benign | -1 | RCV001514395|RCV001615189; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56376091 | 56376091 | | | 56376091 | - | | |
NM_001374736.1(DST):c.18681A>G (p.Gln6227_Glu6228=) | 667 | DST | Uncertain significance | -1 | RCV003016118; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56376094 | 56376094 | | | NC_000006.11:g.56376094T>C | - | | |
NM_001374736.1(DST):c.18673T>G (p.Ser6225Ala) | 667 | DST | Uncertain significance | rs1033335791 | RCV001242564|RCV002366070; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56376102 | 56376102 | | | 6:g.56376102A>C | - | | |
NM_001374736.1(DST):c.18670T>C (p.Phe6224Leu) | 667 | DST | Uncertain significance | -1 | RCV002756586; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56376105 | 56376105 | | | NC_000006.11:g.56376105A>G | - | | |
NM_001374736.1(DST):c.18625A>T (p.Asn6209Tyr) | 667 | DST | Uncertain significance | -1 | RCV002020718; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56376150 | 56376150 | | | 56376150 | - | | |
NM_001374736.1(DST):c.18621G>A (p.Lys6207_Met6208=) | 667 | DST | Likely benign | rs1583547445 | RCV000979092|RCV001410503; | N | MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56376154 | 56376154 | | | 6:g.56376154C>T | - | | |
NM_001374736.1(DST):c.18606G>A (p.Lys6202=) | 667 | DST | Likely benign | -1 | RCV001502455; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56376169 | 56376169 | | | 56376169 | - | | |
NM_001374736.1(DST):c.18603C>T (p.His6201_Lys6202=) | 667 | DST | Uncertain significance | -1 | RCV003112836; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56376172 | 56376172 | | | NC_000006.11:g.56376172G>A | - | | |
NM_001374736.1(DST):c.18601C>T (p.His6201Tyr) | 667 | DST | Uncertain significance | rs371649829 | RCV001295125; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56376174 | 56376174 | | | 56376174 | - | | |
NM_001374736.1(DST):c.18597T>C (p.Ala6199=) | 667 | DST | Likely benign | -1 | RCV001457942; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56376178 | 56376178 | | | 56376178 | - | | |
NM_001374736.1(DST):c.18589T>C (p.Leu6197=) | 667 | DST | Likely benign | -1 | RCV001466350; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56376186 | 56376186 | | | 56376186 | - | | |
NM_001374736.1(DST):c.18577-3T>C | 667 | DST | Uncertain significance | -1 | RCV001921397; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56376201 | 56376201 | | | 56376201 | - | | |
NM_001374736.1(DST):c.18577-4A>G | 667 | DST | Likely benign | -1 | RCV003077787; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56376202 | 56376202 | | | NC_000006.11:g.56376202T>C | - | | |
NM_001374736.1(DST):c.18576+10G>A | 667 | DST | Likely benign | -1 | RCV002164397; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56380238 | 56380238 | | | 56380238 | - | | |
NM_001374736.1(DST):c.18576G>A (p.Arg6192=) | 667 | DST | Uncertain significance | rs2096570211 | RCV001238912; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380248 | 56380248 | | | 6:g.56380248C>T | - | | |
NM_001374736.1(DST):c.18571C>T (p.His6191Tyr) | 667 | DST | Uncertain significance | rs764457552 | RCV001349556; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56380253 | 56380253 | | | 56380253 | - | | |
NM_001374736.1(DST):c.18568G>A (p.Glu6190Lys) | 667 | DST | Uncertain significance | rs754382598 | RCV001245921; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380256 | 56380256 | | | 6:g.56380256C>T | - | | |
NM_001374736.1(DST):c.18543T>C (p.Tyr6181=) | 667 | DST | Likely benign | -1 | RCV002218689; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56380281 | 56380281 | | | 56380281 | - | | |
NM_001374736.1(DST):c.18529C>T (p.Pro6177Ser) | 667 | DST | Uncertain significance | -1 | RCV002654315; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380295 | 56380295 | | | NC_000006.11:g.56380295G>A | - | | |
NM_001374736.1(DST):c.18526G>A (p.Ala6176Thr) | 667 | DST | Uncertain significance | rs540680338 | RCV001239734; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56380298 | 56380298 | | | 6:g.56380298C>T | - | | |
NM_001374736.1(DST):c.18525C>T (p.Pro6175=) | 667 | DST | Likely benign | -1 | RCV001445439; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380299 | 56380299 | | | 56380299 | - | | |
NM_001374736.1(DST):c.18513C>G (p.Ile6171Met) | 667 | DST | Uncertain significance | rs1029481180 | RCV001242562; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56380311 | 56380311 | | | 6:g.56380311G>C | - | | |
NM_001374736.1(DST):c.18511A>G (p.Ile6171Val) | 667 | DST | Uncertain significance | -1 | RCV001864614|RCV002359326; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56380313 | 56380313 | | | 56380313 | - | | |
NM_001374736.1(DST):c.18508A>G (p.Ile6170Val) | 667 | DST | Uncertain significance | rs374091334 | RCV001342561|RCV002357183; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56380316 | 56380316 | | | 56380316 | - | | |
NM_001374736.1(DST):c.18489G>C (p.Trp6163Cys) | 667 | DST | Uncertain significance | -1 | RCV001870366; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380335 | 56380335 | | | 56380335 | - | | |
NM_001374736.1(DST):c.18480T>C (p.Leu6160=) | 667 | DST | Likely benign | -1 | RCV001470426; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380344 | 56380344 | | | 56380344 | - | | |
NM_001374736.1(DST):c.18478C>T (p.Leu6160Phe) | 667 | DST | Uncertain significance | -1 | RCV001363264; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56380346 | 56380346 | | | 56380346 | - | | |
NM_001374736.1(DST):c.18472G>A (p.Glu6158Lys) | 667 | DST | Uncertain significance | rs955207101 | RCV001322995; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380352 | 56380352 | | | 56380352 | - | | |
NM_001374736.1(DST):c.18456A>G (p.Gln6152_Phe6153=) | 667 | DST | Uncertain significance | -1 | RCV003072036; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56380368 | 56380368 | | | NC_000006.11:g.56380368T>C | - | | |
NM_001374736.1(DST):c.18448G>A (p.Val6150Ile) | 667 | DST | Uncertain significance | -1 | RCV001367337; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380376 | 56380376 | | | 56380376 | - | | |
NM_001374736.1(DST):c.18439C>T (p.Gln6147Ter) | 667 | DST | Pathogenic | -1 | RCV002035254; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380385 | 56380385 | | | 56380385 | - | | |
NM_001374736.1(DST):c.18436G>A (p.Ala6146Thr) | 667 | DST | Uncertain significance | -1 | RCV002632579; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380388 | 56380388 | | | NC_000006.11:g.56380388C>T | - | | |
NM_001374736.1(DST):c.18435G>A (p.Arg6145_Ala6146=) | 667 | DST | Uncertain significance | -1 | RCV002825649; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56380389 | 56380389 | | | NC_000006.11:g.56380389C>T | - | | |
NM_001374736.1(DST):c.18434G>A (p.Arg6145Gln) | 667 | DST | Uncertain significance | -1 | RCV003076884; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380390 | 56380390 | | | NC_000006.11:g.56380390C>T | - | | |
NM_001374736.1(DST):c.18433C>T (p.Arg6145Trp) | 667 | DST | Conflicting interpretations of pathogenicity | rs193252082 | RCV000981886|RCV001200472|RCV002346188; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 6 | 56380391 | 56380391 | | | 6:g.56380391G>A | - | | |
NM_001374736.1(DST):c.18432A>G (p.Glu6144=) | 667 | DST | Likely benign | -1 | RCV002081050; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56380392 | 56380392 | | | 56380392 | - | | |
NM_001374736.1(DST):c.18404T>G (p.Ile6135Ser) | 667 | DST | Uncertain significance | rs760688522 | RCV000815504|RCV002345867; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56380420 | 56380420 | | | 6:g.56380420A>C | - | | |
NM_001374736.1(DST):c.18397T>A (p.Cys6133Ser) | 667 | DST | Benign/Likely benign | rs75105686 | RCV000979017|RCV001766800; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56380427 | 56380427 | | | 6:g.56380427A>T | - | | |
NM_001374736.1(DST):c.18392C>A (p.Thr6131Asn) | 667 | DST | Uncertain significance | -1 | RCV002050416; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56380432 | 56380432 | | | 56380432 | - | | |
NM_001374736.1(DST):c.18381G>C (p.Lys6127Asn) | 667 | DST | Uncertain significance | -1 | RCV001998379; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380443 | 56380443 | | | 56380443 | - | | |
NM_001374736.1(DST):c.18373G>A (p.Val6125Ile) | 667 | DST | Uncertain significance | -1 | RCV001929021; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380451 | 56380451 | | | 56380451 | - | | |
NM_001374736.1(DST):c.18358-13T>C | 667 | DST | Likely benign | -1 | RCV002093874; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56380479 | 56380479 | | | 56380479 | - | | |
NM_001374736.1(DST):c.18358-16T>C | 667 | DST | Benign | -1 | RCV002180388; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380482 | 56380482 | | | 56380482 | - | | |
NM_001374736.1(DST):c.18358-20T>G | 667 | DST | Likely benign | -1 | RCV001960595; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380486 | 56380486 | | | 56380486 | - | | |
NM_001374736.1(DST):c.18357+15G>A | 667 | DST | Likely benign | -1 | RCV002087111; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56381981 | 56381981 | | | 56381981 | - | | |
NM_001374736.1(DST):c.18357+5A>C | 667 | DST | Uncertain significance | -1 | RCV001977094; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56381991 | 56381991 | | | 56381991 | - | | |
NM_001374736.1(DST):c.18355A>G (p.Lys6119Glu) | 667 | DST | Uncertain significance | -1 | RCV003048259; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56381998 | 56381998 | | | NC_000006.11:g.56381998T>C | - | | |
NM_001374736.1(DST):c.18351A>C (p.Ser6117=) | 667 | DST | Likely benign | -1 | RCV002210258; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56382002 | 56382002 | | | 56382002 | - | | |
NM_001374736.1(DST):c.18348A>G (p.Gln6116=) | 667 | DST | Likely benign | -1 | RCV001467253; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56382005 | 56382005 | | | 56382005 | - | | |
NM_001374736.1(DST):c.18325G>A (p.Ala6109Thr) | 667 | DST | Uncertain significance | -1 | RCV001968037; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56382028 | 56382028 | | | 56382028 | - | | |
NM_001374736.1(DST):c.18324C>T (p.Thr6108=) | 667 | DST | Likely benign | -1 | RCV001448866; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56382029 | 56382029 | | | 56382029 | - | | |
NM_001374736.1(DST):c.18298G>A (p.Val6100Ile) | 667 | DST | Uncertain significance | -1 | RCV001877092; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56382055 | 56382055 | | | 56382055 | - | | |
NM_001374736.1(DST):c.18276C>G (p.His6092Gln) | 667 | DST | Uncertain significance | rs747211113 | RCV001245858; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56382077 | 56382077 | | | 6:g.56382077G>C | - | | |
NM_001374736.1(DST):c.18276C>T (p.His6092_Lys6093=) | 667 | DST | Likely benign | -1 | RCV002619317; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56382077 | 56382077 | | | NC_000006.11:g.56382077G>A | - | | |
NM_001374736.1(DST):c.18275A>G (p.His6092Arg) | 667 | DST | Uncertain significance | -1 | RCV003029896; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56382078 | 56382078 | | | NC_000006.11:g.56382078T>C | - | | |
NM_001374736.1(DST):c.18257C>T (p.Thr6086Ile) | 667 | DST | Uncertain significance | rs769780483 | RCV001245855; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56382096 | 56382096 | | | 6:g.56382096G>A | - | | |
NM_001374736.1(DST):c.18253T>C (p.Phe6085Leu) | 667 | DST | Uncertain significance | rs370466372 | RCV001322522; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56382100 | 56382100 | | | 56382100 | - | | |
NM_001374736.1(DST):c.18250A>G (p.Thr6084Ala) | 667 | DST | Uncertain significance | rs749880417 | RCV001341002; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56382103 | 56382103 | | | 56382103 | - | | |
NM_001374736.1(DST):c.18250-7A>T | 667 | DST | Likely benign | -1 | RCV001452163; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56382110 | 56382110 | | | 56382110 | - | | |
NM_001374736.1(DST):c.18250-11G>A | 667 | DST | Likely benign | -1 | RCV002153282; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56382114 | 56382114 | | | 56382114 | - | | |
NM_001374736.1(DST):c.18250-11G>T | 667 | DST | Likely benign | -1 | RCV002099394; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56382114 | 56382114 | | | 56382114 | - | | |
NM_001374736.1(DST):c.18249+10T>C | 667 | DST | Likely benign | -1 | RCV001408530; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56382289 | 56382289 | | | 56382289 | - | | |
NM_001374736.1(DST):c.18249+3G>A | 667 | DST | Uncertain significance | rs200813187 | RCV002568666|RCV001246798; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56382296 | 56382296 | | | 6:g.56382296C>T | - | | |
NM_001374736.1(DST):c.18219C>T (p.Asp6073=) | 667 | DST | Likely benign | -1 | RCV002207278; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56382329 | 56382329 | | | 56382329 | - | | |
NM_001374736.1(DST):c.18213G>T (p.Glu6071Asp) | 667 | DST | Uncertain significance | rs373876039 | RCV001243366|RCV002261323|RCV002327587; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 6 | 56382335 | 56382335 | | | 6:g.56382335C>A | - | | |
NM_001374736.1(DST):c.18197G>A (p.Gly6066Asp) | 667 | DST | Uncertain significance | -1 | RCV002828878; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56382351 | 56382351 | | | NC_000006.11:g.56382351C>T | - | | |
NM_001374736.1(DST):c.18186G>T (p.Leu6062Phe) | 667 | DST | Uncertain significance | -1 | RCV003047237; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56382362 | 56382362 | | | NC_000006.11:g.56382362C>A | - | | |
NM_001374736.1(DST):c.18178A>G (p.Lys6060Glu) | 667 | DST | Uncertain significance | -1 | RCV001948836; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56382370 | 56382370 | | | 56382370 | - | | |
NM_001374736.1(DST):c.18177A>T (p.Glu6059Asp) | 667 | DST | Uncertain significance | rs1275339494 | RCV001238970|RCV002339662; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56382371 | 56382371 | | | 6:g.56382371T>A | - | | |
NM_001374736.1(DST):c.18152A>G (p.Glu6051Gly) | 667 | DST | Uncertain significance | -1 | RCV002862843; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56382396 | 56382396 | | | NC_000006.11:g.56382396T>C | - | | |
NM_001374736.1(DST):c.18146A>G (p.Asp6049Gly) | 667 | DST | Uncertain significance | rs1172615642 | RCV001295572; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56382402 | 56382402 | | | 56382402 | - | | |
NM_001374736.1(DST):c.18135C>G (p.Asp6045Glu) | 667 | DST | Uncertain significance | rs368605712 | RCV001248664; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56382413 | 56382413 | | | 6:g.56382413G>C | - | | |
NM_001374736.1(DST):c.18129+12T>C | 667 | DST | Likely benign | -1 | RCV002216676; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391147 | 56391147 | | | 56391147 | - | | |
NM_001374736.1(DST):c.18129+3A>G | 667 | DST | Uncertain significance | -1 | RCV002328588|RCV003094726; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391156 | 56391156 | | | 56391156 | - | | |
NM_001374736.1(DST):c.18123A>G (p.Ser6041=) | 667 | DST | Likely benign | -1 | RCV002160837; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391165 | 56391165 | | | 56391165 | - | | |
NM_001374736.1(DST):c.18119G>A (p.Arg6040Gln) | 667 | DST | Uncertain significance | -1 | RCV001984772; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391169 | 56391169 | | | 56391169 | - | | |
NM_001374736.1(DST):c.18117G>T (p.Leu6039=) | 667 | DST | Likely benign | -1 | RCV002154305; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391171 | 56391171 | | | 56391171 | - | | |
NM_001374736.1(DST):c.18105T>C (p.Asp6035_Ala6036=) | 667 | DST | Benign | rs148368712 | RCV000979019|RCV001638025; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56391183 | 56391183 | | | 6:g.56391183A>G | - | | |
NM_001374736.1(DST):c.18102C>T (p.Ile6034=) | 667 | DST | Likely benign | -1 | RCV001456513; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391186 | 56391186 | | | 56391186 | - | | |
NM_001374736.1(DST):c.18091G>A (p.Val6031Met) | 667 | DST | Uncertain significance | rs1164812960 | RCV001241933; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391197 | 56391197 | | | 6:g.56391197C>T | - | | |
NM_001374736.1(DST):c.18082A>G (p.Thr6028Ala) | 667 | DST | Uncertain significance | rs757401983 | RCV001309752; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391206 | 56391206 | | | 56391206 | - | | |
NM_001374736.1(DST):c.18081C>T (p.Ile6027=) | 667 | DST | Likely benign | -1 | RCV001428425; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391207 | 56391207 | | | 56391207 | - | | |
NM_001374736.1(DST):c.18076A>G (p.Thr6026Ala) | 667 | DST | Uncertain significance | -1 | RCV002007808; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391212 | 56391212 | | | 56391212 | - | | |
NM_001374736.1(DST):c.18072C>T (p.Ser6024=) | 667 | DST | Likely benign | -1 | RCV001500297; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391216 | 56391216 | | | 56391216 | - | | |
NM_001374736.1(DST):c.18071G>A (p.Ser6024Asn) | 667 | DST | Uncertain significance | -1 | RCV001361395; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391217 | 56391217 | | | 56391217 | - | | |
NM_001374736.1(DST):c.18065T>C (p.Leu6022Ser) | 667 | DST | Uncertain significance | rs2096797952 | RCV001247512; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391223 | 56391223 | | | 6:g.56391223A>G | - | | |
NM_001374736.1(DST):c.18062G>A (p.Arg6021Gln) | 667 | DST | Uncertain significance | rs755338488 | RCV001247062; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391226 | 56391226 | | | 6:g.56391226C>T | - | | |
NM_001374736.1(DST):c.18061C>T (p.Arg6021Ter) | 667 | DST | Pathogenic | -1 | RCV001960697; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391227 | 56391227 | | | 56391227 | - | | |
NM_001374736.1(DST):c.18056G>A (p.Arg6019His) | 667 | DST | Uncertain significance | rs745991437 | RCV001243432; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391232 | 56391232 | | | 6:g.56391232C>T | - | | |
NM_001374736.1(DST):c.18050A>G (p.Asn6017Ser) | 667 | DST | Uncertain significance | -1 | RCV002038212; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391238 | 56391238 | | | 56391238 | - | | |
NM_001374736.1(DST):c.18047A>G (p.Asp6016Gly) | 667 | DST | Uncertain significance | rs1444942164 | RCV000625439|RCV001347780|RCV001700278; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56391241 | 56391241 | | | 6:g.56391241T>C | ClinGen:CA364505744 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | |
NM_001374736.1(DST):c.18039A>G (p.Val6013=) | 667 | DST | Likely benign | -1 | RCV001495432; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391249 | 56391249 | | | 56391249 | - | | |
NM_001374736.1(DST):c.18036G>A (p.Met6012Ile) | 667 | DST | Uncertain significance | -1 | RCV002029311; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391252 | 56391252 | | | 56391252 | - | | |
NM_001374736.1(DST):c.18023G>A (p.Gly6008Glu) | 667 | DST | Uncertain significance | rs746414483 | RCV001240274|RCV002327580; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56391265 | 56391265 | | | 6:g.56391265C>T | - | | |
NM_001374736.1(DST):c.18008G>A (p.Trp6003Ter) | 667 | DST | Pathogenic | rs2096799052 | RCV001242502; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391280 | 56391280 | | | 6:g.56391280C>T | - | | |
NM_001374736.1(DST):c.18005C>T (p.Pro6002Leu) | 667 | DST | Uncertain significance | -1 | RCV001896763; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391283 | 56391283 | | | 56391283 | - | | |
NM_001374736.1(DST):c.18001G>A (p.Val6001Ile) | 667 | DST | Uncertain significance | -1 | RCV002001922; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391287 | 56391287 | | | 56391287 | - | | |
NM_001374736.1(DST):c.18001G>C (p.Val6001Leu) | 667 | DST | Uncertain significance | -1 | RCV003093339; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391287 | 56391287 | | | NC_000006.11:g.56391287C>G | - | | |
NM_001374736.1(DST):c.17974G>A (p.Glu5992Lys) | 667 | DST | Uncertain significance | rs1272059049 | RCV001348084|RCV002377478; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56391314 | 56391314 | | | 56391314 | - | | |
NM_001374736.1(DST):c.17968C>G (p.Leu5990Val) | 667 | DST | Uncertain significance | -1 | RCV002026188; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391320 | 56391320 | | | 56391320 | - | | |
NM_001374736.1(DST):c.17948A>G (p.Asn5983Ser) | 667 | DST | Uncertain significance | rs201492565 | RCV001241249; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391340 | 56391340 | | | 6:g.56391340T>C | - | | |
NM_001374736.1(DST):c.17942A>G (p.Lys5981Arg) | 667 | DST | Uncertain significance | rs2096799768 | RCV001246527; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391346 | 56391346 | | | 6:g.56391346T>C | - | | |
NM_001374736.1(DST):c.17940T>G (p.Ala5980=) | 667 | DST | Likely benign | -1 | RCV002206154; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391348 | 56391348 | | | 56391348 | - | | |
NM_001374736.1(DST):c.17939C>G (p.Ala5980Gly) | 667 | DST | Uncertain significance | -1 | RCV001865193|RCV002361136; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56391349 | 56391349 | | | 56391349 | - | | |
NM_001374736.1(DST):c.17933A>C (p.Lys5978Thr) | 667 | DST | Uncertain significance | -1 | RCV002355499|RCV003094403; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391355 | 56391355 | | | 56391355 | - | | |
NM_001374736.1(DST):c.17928G>A (p.Leu5976=) | 667 | DST | Likely benign | -1 | RCV002103418; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391360 | 56391360 | | | 56391360 | - | | |
NM_001374736.1(DST):c.17923G>A (p.Glu5975Lys) | 667 | DST | Uncertain significance | rs371243432 | RCV001248190|RCV002357053; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56391365 | 56391365 | | | 6:g.56391365C>T | - | | |
NM_001374736.1(DST):c.17923-2A>G | 667 | DST | Likely pathogenic | -1 | RCV001998586; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391367 | 56391367 | | | 56391367 | - | | |
NM_001374736.1(DST):c.17923-4T>A | 667 | DST | Uncertain significance | -1 | RCV002636879; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391369 | 56391369 | | | NC_000006.11:g.56391369A>T | - | | |
NM_001374736.1(DST):c.17923-10A>G | 667 | DST | Benign/Likely benign | rs116504133 | RCV000979020|RCV001541838; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56391375 | 56391375 | | | 6:g.56391375T>C | - | | |
NM_001374736.1(DST):c.17923-19C>G | 667 | DST | Uncertain significance | -1 | RCV003077789; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391384 | 56391384 | | | NC_000006.11:g.56391384G>C | - | | |
NM_001374736.1(DST):c.17923-20A>G | 667 | DST | Uncertain significance | -1 | RCV003080258; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391385 | 56391385 | | | NC_000006.11:g.56391385T>C | - | | |
NM_001374736.1(DST):c.17922+9T>A | 667 | DST | Likely benign | -1 | RCV003081460; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56392282 | 56392282 | | | NC_000006.11:g.56392282A>T | - | | |
NM_001374736.1(DST):c.17922+3A>G | 667 | DST | Uncertain significance | rs370384005 | RCV001297856; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56392288 | 56392288 | | | 56392288 | - | | |
NM_001374736.1(DST):c.17922G>A (p.Lys5974=) | 667 | DST | Uncertain significance | -1 | RCV001979831; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56392291 | 56392291 | | | 56392291 | - | | |
NM_001374736.1(DST):c.17894A>C (p.Glu5965Ala) | 667 | DST | Conflicting interpretations of pathogenicity | -1 | RCV002037357|RCV002343881; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56392319 | 56392319 | | | 56392319 | - | | |
NM_001374736.1(DST):c.17889A>T (p.Gly5963=) | 667 | DST | Uncertain significance | -1 | RCV001982724; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56392324 | 56392324 | | | 56392324 | - | | |
NM_001374736.1(DST):c.17880T>G (p.Val5960=) | 667 | DST | Likely benign | -1 | RCV002158004; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56392333 | 56392333 | | | 56392333 | - | | |
NM_001374736.1(DST):c.17873C>T (p.Thr5958Ile) | 667 | DST | Uncertain significance | -1 | RCV002598924; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56392340 | 56392340 | | | NC_000006.11:g.56392340G>A | - | | |
NM_001374736.1(DST):c.17856A>G (p.Glu5952_Leu5953=) | 667 | DST | Uncertain significance | -1 | RCV003077062; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56392357 | 56392357 | | | NC_000006.11:g.56392357T>C | - | | |
NM_001374736.1(DST):c.17831C>T (p.Thr5944Ile) | 667 | DST | Uncertain significance | -1 | RCV002022639; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56392382 | 56392382 | | | 56392382 | - | | |
NM_001374736.1(DST):c.17830A>G (p.Thr5944Ala) | 667 | DST | Uncertain significance | rs1252419878 | RCV001245919; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56392383 | 56392383 | | | 6:g.56392383T>C | - | | |
NM_001374736.1(DST):c.17828G>A (p.Cys5943Tyr) | 667 | DST | Uncertain significance | -1 | RCV001919207; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56392385 | 56392385 | | | 56392385 | - | | |
NM_001374736.1(DST):c.17818G>A (p.Glu5940Lys) | 667 | DST | Uncertain significance | -1 | RCV003081448; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56392395 | 56392395 | | | NC_000006.11:g.56392395C>T | - | | |
NM_001374736.1(DST):c.17817C>T (p.His5939=) | 667 | DST | Likely benign | -1 | RCV001431537; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56392396 | 56392396 | | | 56392396 | - | | |
NM_001374736.1(DST):c.17807A>G (p.His5936Arg) | 667 | DST | Uncertain significance | -1 | RCV002046713; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56392406 | 56392406 | | | 56392406 | - | | |
NM_001374736.1(DST):c.17804T>A (p.Leu5935Gln) | 667 | DST | Uncertain significance | rs763300533 | RCV001239233|RCV001507672|RCV002339663; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 6 | 56392409 | 56392409 | | | 6:g.56392409A>T | - | | |
NM_001374736.1(DST):c.17803C>A (p.Leu5935Met) | 667 | DST | Uncertain significance | -1 | RCV002681219; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56392410 | 56392410 | | | NC_000006.11:g.56392410G>T | - | | |
NM_001374736.1(DST):c.17801G>A (p.Arg5934Gln) | 667 | DST | Uncertain significance | rs537793986 | RCV001240069|RCV002451583; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56392412 | 56392412 | | | 6:g.56392412C>T | - | | |
NM_001374736.1(DST):c.17800C>T (p.Arg5934Trp) | 667 | DST | Uncertain significance | -1 | RCV001866996; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56392413 | 56392413 | | | 56392413 | - | | |
NM_001374736.1(DST):c.17784G>A (p.Ala5928=) | 667 | DST | Likely benign | -1 | RCV001405653; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56392429 | 56392429 | | | 56392429 | - | | |
NM_001374736.1(DST):c.17783C>T (p.Ala5928Val) | 667 | DST | Uncertain significance | rs764588106 | RCV001297622|RCV002460140; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56392430 | 56392430 | | | 56392430 | - | | |
NM_001374736.1(DST):c.17773C>G (p.Leu5925Val) | 667 | DST | Uncertain significance | -1 | RCV001990176|RCV002458876; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56392440 | 56392440 | | | 56392440 | - | | |
NM_001374736.1(DST):c.17772T>A (p.Thr5924=) | 667 | DST | Likely benign | -1 | RCV002145652; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56392441 | 56392441 | | | 56392441 | - | | |
NM_001374736.1(DST):c.17764G>A (p.Ala5922Thr) | 667 | DST | Uncertain significance | -1 | RCV001795519|RCV002034653; | N | MedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56392449 | 56392449 | | | 56392449 | - | | |
NM_001374736.1(DST):c.17740A>G (p.Ile5914Val) | 667 | DST | Uncertain significance | -1 | RCV003044970; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56392473 | 56392473 | | | NC_000006.11:g.56392473T>C | - | | |
NM_001374736.1(DST):c.17730G>A (p.Arg5910=) | 667 | DST | Likely benign | -1 | RCV001474916; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56392483 | 56392483 | | | 56392483 | - | | |
NM_001374736.1(DST):c.17696T>C (p.Ile5899Thr) | 667 | DST | Uncertain significance | -1 | RCV002026256; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56392517 | 56392517 | | | 56392517 | - | | |
NM_001374736.1(DST):c.17683G>C (p.Asp5895His) | 667 | DST | Uncertain significance | -1 | RCV001864475; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56392530 | 56392530 | | | 56392530 | - | | |
NM_001374736.1(DST):c.17681-19C>T | 667 | DST | Likely benign | -1 | RCV002098580; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56392551 | 56392551 | | | 56392551 | - | | |
NM_001374736.1(DST):c.17680+9T>C | 667 | DST | Uncertain significance | -1 | RCV002790609; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56393630 | 56393630 | | | NC_000006.11:g.56393630A>G | - | | |
NM_001374736.1(DST):c.17680+6A>T | 667 | DST | Uncertain significance | -1 | RCV003074494; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56393633 | 56393633 | | | NC_000006.11:g.56393633T>A | - | | |
NM_001374736.1(DST):c.17671C>G (p.Gln5891Glu) | 667 | DST | Uncertain significance | rs757060967 | RCV001338338; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56393648 | 56393648 | | | 56393648 | - | | |
NM_001374736.1(DST):c.17658A>G (p.Leu5886=) | 667 | DST | Likely benign | -1 | RCV002178278; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56393661 | 56393661 | | | 56393661 | - | | |
NM_001374736.1(DST):c.17645T>C (p.Leu5882Ser) | 667 | DST | Uncertain significance | rs2096847724 | RCV001246726; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56393674 | 56393674 | | | 6:g.56393674A>G | - | | |
NM_001374736.1(DST):c.17627A>G (p.Gln5876Arg) | 667 | DST | Uncertain significance | -1 | RCV001879108; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56393692 | 56393692 | | | 56393692 | - | | |
NM_001374736.1(DST):c.17603A>C (p.Gln5868Pro) | 667 | DST | Uncertain significance | rs769166134 | RCV001343807; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56393716 | 56393716 | | | 56393716 | - | | |
NM_001374736.1(DST):c.17601G>T (p.Leu5867=) | 667 | DST | Likely benign | -1 | RCV002141733; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56393718 | 56393718 | | | 56393718 | - | | |
NM_001374736.1(DST):c.17596-11T>C | 667 | DST | Likely benign | -1 | RCV002146407; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56393734 | 56393734 | | | 56393734 | - | | |
NM_001374736.1(DST):c.17596-15T>C | 667 | DST | Likely benign | -1 | RCV002212775; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56393738 | 56393738 | | | 56393738 | - | | |
NM_001374736.1(DST):c.17595+1G>A | 667 | DST | Likely pathogenic | rs2096858510 | RCV001243780; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394245 | 56394245 | | | 6:g.56394245C>T | - | | |
NM_001374736.1(DST):c.17595G>C (p.Arg5865=) | 667 | DST | Uncertain significance | rs2096858541 | RCV001346795; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394246 | 56394246 | | | 56394246 | - | | |
NM_001374736.1(DST):c.17594G>A (p.Arg5865Gln) | 667 | DST | Uncertain significance | -1 | RCV002619043; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394247 | 56394247 | | | NC_000006.11:g.56394247C>T | - | | |
NM_001374736.1(DST):c.17593C>T (p.Arg5865Trp) | 667 | DST | Uncertain significance | rs766911461 | RCV001298114; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394248 | 56394248 | | | 56394248 | - | | |
NM_001374736.1(DST):c.17582A>G (p.Gln5861Arg) | 667 | DST | Uncertain significance | -1 | RCV001945287; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394259 | 56394259 | | | 56394259 | - | | |
NM_001374736.1(DST):c.17579A>C (p.Gln5860Pro) | 667 | DST | Uncertain significance | -1 | RCV003048963; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394262 | 56394262 | | | NC_000006.11:g.56394262T>G | - | | |
NM_001374736.1(DST):c.17577G>A (p.Lys5859=) | 667 | DST | Likely benign | -1 | RCV002138608; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394264 | 56394264 | | | 56394264 | - | | |
NM_001374736.1(DST):c.17568G>A (p.Gly5856=) | 667 | DST | Likely benign | -1 | RCV001475184; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394273 | 56394273 | | | 56394273 | - | | |
NM_001374736.1(DST):c.17555A>G (p.Tyr5852Cys) | 667 | DST | Uncertain significance | rs757046386 | RCV001245507; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394286 | 56394286 | | | 6:g.56394286T>C | - | | |
NM_001374736.1(DST):c.17552A>G (p.Asp5851Gly) | 667 | DST | Uncertain significance | -1 | RCV002814812; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394289 | 56394289 | | | NC_000006.11:g.56394289T>C | - | | |
NM_001374736.1(DST):c.17551G>T (p.Asp5851Tyr) | 667 | DST | Uncertain significance | rs180773742 | RCV001243701; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394290 | 56394290 | | | 6:g.56394290C>A | - | | |
NM_001374736.1(DST):c.17551G>A (p.Asp5851Asn) | 667 | DST | Uncertain significance | -1 | RCV002021227; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394290 | 56394290 | | | 56394290 | - | | |
NM_001374736.1(DST):c.17547C>T (p.Val5849=) | 667 | DST | Likely benign | -1 | RCV001474380; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394294 | 56394294 | | | 56394294 | - | | |
NM_001374736.1(DST):c.17527A>G (p.Lys5843Glu) | 667 | DST | Uncertain significance | -1 | RCV002993776; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394314 | 56394314 | | | NC_000006.11:g.56394314T>C | - | | |
NM_001374736.1(DST):c.17522A>C (p.His5841Pro) | 667 | DST | Uncertain significance | rs758568001 | RCV001294790; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394319 | 56394319 | | | 56394319 | - | | |
NM_001374736.1(DST):c.17522A>T (p.His5841Leu) | 667 | DST | Likely benign | -1 | RCV001438228; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394319 | 56394319 | | | 56394319 | - | | |
NM_001374736.1(DST):c.17520G>A (p.Val5840=) | 667 | DST | Likely benign | -1 | RCV001457904; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394321 | 56394321 | | | 56394321 | - | | |
NM_001374736.1(DST):c.17519T>G (p.Val5840Gly) | 667 | DST | Uncertain significance | -1 | RCV001948839; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394322 | 56394322 | | | 56394322 | - | | |
NM_001374736.1(DST):c.17505C>T (p.Asn5835=) | 667 | DST | Likely benign | -1 | RCV002096387; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394336 | 56394336 | | | 56394336 | - | | |
NM_001374736.1(DST):c.17504A>G (p.Asn5835Ser) | 667 | DST | Uncertain significance | -1 | RCV002439637|RCV003102197; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394337 | 56394337 | | | 56394337 | - | | |
NM_001374736.1(DST):c.17498T>C (p.Leu5833Pro) | 667 | DST | Uncertain significance | -1 | RCV002746225; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394343 | 56394343 | | | NC_000006.11:g.56394343A>G | - | | |
NM_001374736.1(DST):c.17496A>C (p.Glu5832Asp) | 667 | DST | Uncertain significance | rs773757881 | RCV001319752; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394345 | 56394345 | | | 56394345 | - | | |
NM_001374736.1(DST):c.17489A>C (p.Glu5830Ala) | 667 | DST | Uncertain significance | rs373654920 | RCV001308753; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394352 | 56394352 | | | 56394352 | - | | |
NM_001374736.1(DST):c.17478T>C (p.Phe5826_Gly5827=) | 667 | DST | Uncertain significance | -1 | RCV003065505; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394363 | 56394363 | | | NC_000006.11:g.56394363A>G | - | | |
NM_001374736.1(DST):c.17478T>G (p.Phe5826Leu) | 667 | DST | Uncertain significance | -1 | RCV002801032; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394363 | 56394363 | | | NC_000006.11:g.56394363A>C | - | | |
NM_001374736.1(DST):c.17472G>A (p.Lys5824_Ile5825=) | 667 | DST | Uncertain significance | -1 | RCV002582419; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394369 | 56394369 | | | NC_000006.11:g.56394369C>T | - | | |
NM_001374736.1(DST):c.17452C>T (p.Gln5818Ter) | 667 | DST | Pathogenic | -1 | RCV002927366; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394389 | 56394389 | | | NC_000006.11:g.56394389G>A | - | | |
NM_001374736.1(DST):c.17450A>G (p.Gln5817Arg) | 667 | DST | Uncertain significance | rs761791970 | RCV001245163|RCV002430039; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56394391 | 56394391 | | | 6:g.56394391T>C | - | | |
NM_001374736.1(DST):c.17450A>T (p.Gln5817Leu) | 667 | DST | Uncertain significance | -1 | RCV001903848; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394391 | 56394391 | | | 56394391 | - | | |
NM_001374736.1(DST):c.17443C>A (p.Leu5815Ile) | 667 | DST | Uncertain significance | rs750180346 | RCV001298746|RCV002451662; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56394398 | 56394398 | | | 56394398 | - | | |
NM_001374736.1(DST):c.17428C>T (p.His5810Tyr) | 667 | DST | Uncertain significance | -1 | RCV003061391; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394413 | 56394413 | | | NC_000006.11:g.56394413G>A | - | | |
NM_001374736.1(DST):c.17403G>T (p.Trp5801Cys) | 667 | DST | Uncertain significance | -1 | RCV002851357; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394438 | 56394438 | | | NC_000006.11:g.56394438C>A | - | | |
NM_001374736.1(DST):c.17397A>C (p.Gln5799His) | 667 | DST | Uncertain significance | -1 | RCV001872772; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394444 | 56394444 | | | 56394444 | - | | |
NM_001374736.1(DST):c.17386G>A (p.Asp5796Asn) | 667 | DST | Uncertain significance | rs186699708 | RCV001246802; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394455 | 56394455 | | | 6:g.56394455C>T | - | | |
NM_001374736.1(DST):c.17385A>G (p.Leu5795=) | 667 | DST | Likely benign | -1 | RCV002102415; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394456 | 56394456 | | | 56394456 | - | | |
NM_001374736.1(DST):c.17378G>A (p.Ser5793Asn) | 667 | DST | Uncertain significance | rs369521830 | RCV001241063; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394463 | 56394463 | | | 6:g.56394463C>T | - | | |
NM_001374736.1(DST):c.17365G>A (p.Asp5789Asn) | 667 | DST | Uncertain significance | -1 | RCV001910818; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394476 | 56394476 | | | 56394476 | - | | |
NM_001374736.1(DST):c.17340G>A (p.Lys5780=) | 667 | DST | Likely benign | -1 | RCV001417146|RCV002292637; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56394501 | 56394501 | | | 56394501 | - | | |
NM_001374736.1(DST):c.17326G>C (p.Gly5776Arg) | 667 | DST | Uncertain significance | -1 | RCV002046481; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394515 | 56394515 | | | 56394515 | - | | |
NM_001374736.1(DST):c.17310C>A (p.His5770Gln) | 667 | DST | Uncertain significance | rs751772852 | RCV001295129|RCV002451651; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56394531 | 56394531 | | | 56394531 | - | | |
NM_001374736.1(DST):c.17308C>T (p.His5770Tyr) | 667 | DST | Uncertain significance | -1 | RCV002017129; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394533 | 56394533 | | | 56394533 | - | | |
NM_001374736.1(DST):c.17303A>G (p.His5768Arg) | 667 | DST | Uncertain significance | rs755202054 | RCV001246192; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394538 | 56394538 | | | 6:g.56394538T>C | - | | |
NM_001374736.1(DST):c.17301A>C (p.Lys5767Asn) | 667 | DST | Uncertain significance | -1 | RCV002448457|RCV003101753; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394540 | 56394540 | | | 56394540 | - | | |
NM_001374736.1(DST):c.17297A>G (p.Asn5766Ser) | 667 | DST | Uncertain significance | -1 | RCV002771267; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394544 | 56394544 | | | NC_000006.11:g.56394544T>C | - | | |
NM_001374736.1(DST):c.17296A>G (p.Asn5766Asp) | 667 | DST | Uncertain significance | -1 | RCV002457689|RCV003101746; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394545 | 56394545 | | | 56394545 | - | | |
NM_001374736.1(DST):c.17287A>G (p.Ile5763Val) | 667 | DST | Uncertain significance | -1 | RCV002448242|RCV003098811; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394554 | 56394554 | | | 56394554 | - | | |
NM_001374736.1(DST):c.17280T>C (p.Asp5760=) | 667 | DST | Likely benign | -1 | RCV001477059; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394561 | 56394561 | | | 56394561 | - | | |
NM_001374736.1(DST):c.17269-3T>A | 667 | DST | Uncertain significance | rs373884076 | RCV001245303|RCV002447216; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56394575 | 56394575 | | | 6:g.56394575A>T | - | | |
NM_001374736.1(DST):c.17268+18C>T | 667 | DST | Uncertain significance | -1 | RCV003067919; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394754 | 56394754 | | | NC_000006.11:g.56394754G>A | - | | |
NM_001374736.1(DST):c.17268+7T>C | 667 | DST | Likely benign | -1 | RCV001494877; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394765 | 56394765 | | | 56394765 | - | | |
NM_001374736.1(DST):c.17268+6A>G | 667 | DST | Uncertain significance | rs2096867211 | RCV001243905; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394766 | 56394766 | | | 6:g.56394766T>C | - | | |
NM_001374736.1(DST):c.17259A>G (p.Ala5753_Gln5754=) | 667 | DST | Uncertain significance | -1 | RCV002676567; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394781 | 56394781 | | | NC_000006.11:g.56394781T>C | - | | |
NM_001374736.1(DST):c.17257G>A (p.Ala5753Thr) | 667 | DST | Uncertain significance | -1 | RCV003081456; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394783 | 56394783 | | | NC_000006.11:g.56394783C>T | - | | |
NM_001374736.1(DST):c.17251C>T (p.Gln5751Ter) | 667 | DST | Pathogenic | rs2096867388 | RCV001247971; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394789 | 56394789 | | | 6:g.56394789G>A | - | | |
NM_001374736.1(DST):c.17235A>G (p.Ala5745=) | 667 | DST | Likely benign | -1 | RCV001405652; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394805 | 56394805 | | | 56394805 | - | | |
NM_001374736.1(DST):c.17234C>T (p.Ala5745Val) | 667 | DST | Uncertain significance | rs1562586282 | RCV001246462|RCV002430044; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56394806 | 56394806 | | | 6:g.56394806G>A | - | | |
NM_001374736.1(DST):c.17232A>C (p.Gln5744His) | 667 | DST | Uncertain significance | rs1156755669 | RCV001244814; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394808 | 56394808 | | | 6:g.56394808T>G | - | | |
NM_001374736.1(DST):c.17220C>T (p.Pro5740=) | 667 | DST | Likely benign | -1 | RCV001498124; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394820 | 56394820 | | | 56394820 | - | | |
NM_001374736.1(DST):c.17198A>G (p.Lys5733Arg) | 667 | DST | Uncertain significance | -1 | RCV002614208; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394842 | 56394842 | | | NC_000006.11:g.56394842T>C | - | | |
NM_001374736.1(DST):c.17190C>T (p.Thr5730_Ile5731=) | 667 | DST | Likely benign | -1 | RCV002890370; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394850 | 56394850 | | | NC_000006.11:g.56394850G>A | - | | |
NM_001374736.1(DST):c.17176G>A (p.Glu5726Lys) | 667 | DST | Uncertain significance | rs774345974 | RCV001243903; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394864 | 56394864 | | | 6:g.56394864C>T | - | | |
NM_001374736.1(DST):c.17158A>G (p.Thr5720Ala) | 667 | DST | Uncertain significance | rs761029398 | RCV001340947; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394882 | 56394882 | | | 56394882 | - | | |
NM_001374736.1(DST):c.17157A>G (p.Glu5719=) | 667 | DST | Likely benign | -1 | RCV001428971; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394883 | 56394883 | | | 56394883 | - | | |
NM_001374736.1(DST):c.17153A>G (p.His5718Arg) | 667 | DST | Uncertain significance | rs757364222 | RCV001239860; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394887 | 56394887 | | | 6:g.56394887T>C | - | | |
NM_001374736.1(DST):c.17147A>G (p.Gln5716Arg) | 667 | DST | Uncertain significance | -1 | RCV003013884; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394893 | 56394893 | | | NC_000006.11:g.56394893T>C | - | | |
NM_001374736.1(DST):c.17143C>A (p.Gln5715Lys) | 667 | DST | Uncertain significance | rs1562587802 | RCV001241128; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394897 | 56394897 | | | 6:g.56394897G>T | - | | |
NM_001374736.1(DST):c.17141C>T (p.Ala5714Val) | 667 | DST | Uncertain significance | -1 | RCV001974173; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394899 | 56394899 | | | 56394899 | - | | |
NM_001374736.1(DST):c.17140G>A (p.Ala5714Thr) | 667 | DST | Uncertain significance | rs1225545020 | RCV001240144; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394900 | 56394900 | | | 6:g.56394900C>T | - | | |
NM_001374736.1(DST):c.17137G>A (p.Val5713Ile) | 667 | DST | Uncertain significance | -1 | RCV003118590; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394903 | 56394903 | | | NC_000006.11:g.56394903C>T | - | | |
NM_001374736.1(DST):c.17133G>A (p.Ser5711=) | 667 | DST | Likely benign | -1 | RCV001503881; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394907 | 56394907 | | | 56394907 | - | | |
NM_001374736.1(DST):c.17133G>T (p.Ser5711=) | 667 | DST | Likely benign | -1 | RCV002094607; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394907 | 56394907 | | | 56394907 | - | | |
NM_001374736.1(DST):c.17128A>G (p.Ile5710Val) | 667 | DST | Uncertain significance | -1 | RCV002029303; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394912 | 56394912 | | | 56394912 | - | | |
NM_001374736.1(DST):c.17123A>G (p.Glu5708Gly) | 667 | DST | Uncertain significance | rs894146699 | RCV001239858; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394917 | 56394917 | | | 6:g.56394917T>C | - | | |
NM_001374736.1(DST):c.17113C>T (p.Arg5705Cys) | 667 | DST | Uncertain significance | rs979136179 | RCV001241061; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394927 | 56394927 | | | 6:g.56394927G>A | - | | |
NM_001374736.1(DST):c.17109-9C>T | 667 | DST | Likely benign | -1 | RCV001503851; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394940 | 56394940 | | | 56394940 | - | | |
NM_001374736.1(DST):c.17109-12G>A | 667 | DST | Likely benign | -1 | RCV002179434; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394943 | 56394943 | | | 56394943 | - | | |
NM_001374736.1(DST):c.17108+10A>G | 667 | DST | Benign | rs191140581 | RCV000979022|RCV001729774; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56397132 | 56397132 | | | 6:g.56397132T>C | - | | |
NM_001374736.1(DST):c.17108+9T>C | 667 | DST | Likely benign | -1 | RCV001494879; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56397133 | 56397133 | | | 56397133 | - | | |
NM_001374736.1(DST):c.17108+6T>C | 667 | DST | Uncertain significance | rs375166905 | RCV001246649; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56397136 | 56397136 | | | 6:g.56397136A>G | - | | |
NM_001374736.1(DST):c.17105C>T (p.Thr5702Ile) | 667 | DST | Uncertain significance | -1 | RCV001913819; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56397145 | 56397145 | | | 56397145 | - | | |
NM_001374736.1(DST):c.17102A>C (p.Glu5701Ala) | 667 | DST | Uncertain significance | -1 | RCV003048378; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56397148 | 56397148 | | | NC_000006.11:g.56397148T>G | - | | |
NM_001374736.1(DST):c.17086T>C (p.Leu5696=) | 667 | DST | Likely benign | -1 | RCV001457427; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56397164 | 56397164 | | | 56397164 | - | | |
NM_001374736.1(DST):c.17082G>A (p.Glu5694=) | 667 | DST | Likely benign | -1 | RCV001502483; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56397168 | 56397168 | | | 56397168 | - | | |
NM_001374736.1(DST):c.17070T>C (p.Asp5690=) | 667 | DST | Likely benign | -1 | RCV001393321; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56397180 | 56397180 | | | 56397180 | - | | |
NM_001374736.1(DST):c.17067G>A (p.Leu5689_Asp5690=) | 667 | DST | Uncertain significance | -1 | RCV002592466; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56397183 | 56397183 | | | NC_000006.11:g.56397183C>T | - | | |
NM_001374736.1(DST):c.17044A>G (p.Ile5682Val) | 667 | DST | Uncertain significance | -1 | RCV001928127; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56397206 | 56397206 | | | 56397206 | - | | |
NM_001374736.1(DST):c.17030C>T (p.Ala5677Val) | 667 | DST | Benign | rs145976321 | RCV000979021|RCV001597237; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56397220 | 56397220 | | | 6:g.56397220G>A | - | | |
NM_001374736.1(DST):c.17029G>A (p.Ala5677Thr) | 667 | DST | Uncertain significance | -1 | RCV003068855; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56397221 | 56397221 | | | NC_000006.11:g.56397221C>T | - | | |
NM_001374736.1(DST):c.17028C>G (p.Pro5676=) | 667 | DST | Likely benign | -1 | RCV002214822; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56397222 | 56397222 | | | 56397222 | - | | |
NM_001374736.1(DST):c.17028C>T (p.Pro5676_Ala5677=) | 667 | DST | Likely benign | -1 | RCV003118891; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56397222 | 56397222 | | | NC_000006.11:g.56397222G>A | - | | |
NM_001374736.1(DST):c.17014A>G (p.Thr5672Ala) | 667 | DST | Uncertain significance | -1 | RCV002603212; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56397236 | 56397236 | | | NC_000006.11:g.56397236T>C | - | | |
NM_001374736.1(DST):c.17011G>A (p.Ala5671Thr) | 667 | DST | Uncertain significance | rs1584257296 | RCV001350101; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56397239 | 56397239 | | | 56397239 | - | | |
NM_001374736.1(DST):c.17007A>T (p.Lys5669Asn) | 667 | DST | Uncertain significance | -1 | RCV003091515; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56397243 | 56397243 | | | NC_000006.11:g.56397243T>A | - | | |
NM_001374736.1(DST):c.16977G>A (p.Thr5659=) | 667 | DST | Likely benign | -1 | RCV001467257; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56397273 | 56397273 | | | 56397273 | - | | |
NM_001374736.1(DST):c.16967G>A (p.Arg5656Gln) | 667 | DST | Conflicting interpretations of pathogenicity | rs116774070 | RCV000998630|RCV001449325|RCV002400175; | N | MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56397283 | 56397283 | | | 6:g.56397283C>T | - | | |
NM_001374736.1(DST):c.16966C>G (p.Arg5656Gly) | 667 | DST | Uncertain significance | -1 | RCV003077793; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56397284 | 56397284 | | | NC_000006.11:g.56397284G>C | - | | |
NM_001374736.1(DST):c.16956G>T (p.Leu5652Phe) | 667 | DST | Uncertain significance | rs371645175 | RCV001248336; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56397294 | 56397294 | | | 6:g.56397294C>A | - | | |
NM_001374736.1(DST):c.16956G>A (p.Leu5652=) | 667 | DST | Likely benign | -1 | RCV001478760; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56397294 | 56397294 | | | 56397294 | - | | |
NM_001374736.1(DST):c.16942-10T>C | 667 | DST | Likely benign | -1 | RCV001463791; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56397318 | 56397318 | | | 56397318 | - | | |
NM_001374736.1(DST):c.16941+9G>T | 667 | DST | Likely benign | -1 | RCV002215863; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56399911 | 56399911 | | | 56399911 | - | | |
NM_001374736.1(DST):c.16941+4A>G | 667 | DST | Uncertain significance | rs76350521 | RCV001242387; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56399916 | 56399916 | | | 6:g.56399916T>C | - | | |
NM_001374736.1(DST):c.16932del (p.Glu5645fs) | 667 | DST | Pathogenic | -1 | RCV002814985; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56399929 | 56399929 | | | NC_000006.11:g.56399930del | - | | |
NM_001374736.1(DST):c.16922C>T (p.Ala5641Val) | 667 | DST | Uncertain significance | rs768150254 | RCV000998631|RCV001243637|RCV002400176; | N | MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56399939 | 56399939 | | | 6:g.56399939G>A | - | | |
NM_001374736.1(DST):c.16914G>A (p.Val5638=) | 667 | DST | Likely benign | -1 | RCV001483484; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56399947 | 56399947 | | | 56399947 | - | | |
NM_001374736.1(DST):c.16897T>G (p.Ser5633Ala) | 667 | DST | Uncertain significance | -1 | RCV003016951; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56399964 | 56399964 | | | NC_000006.11:g.56399964A>C | - | | |
NM_001374736.1(DST):c.16895C>T (p.Pro5632Leu) | 667 | DST | Uncertain significance | rs1178200177 | RCV001347358; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56399966 | 56399966 | | | 56399966 | - | | |
NM_001374736.1(DST):c.16889A>G (p.Lys5630Arg) | 667 | DST | Uncertain significance | rs1236590396 | RCV001318470; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56399972 | 56399972 | | | 56399972 | - | | |
NM_001374736.1(DST):c.16883A>C (p.Asn5628Thr) | 667 | DST | Uncertain significance | -1 | RCV001904004; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56399978 | 56399978 | | | 56399978 | - | | |
NM_001374736.1(DST):c.16859T>C (p.Val5620Ala) | 667 | DST | Uncertain significance | rs200036988 | RCV001296004; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56400002 | 56400002 | | | 56400002 | - | | |
NM_001374736.1(DST):c.16858del (p.Val5620fs) | 667 | DST | Pathogenic | rs1584328172 | RCV000824024; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56400003 | 56400003 | | | 6:g.56400003_56400003del | - | | |
NM_001374736.1(DST):c.16858G>A (p.Val5620Met) | 667 | DST | Uncertain significance | rs371837412 | RCV001245651; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56400003 | 56400003 | | | 6:g.56400003C>T | - | | |
NM_001374736.1(DST):c.16857G>A (p.Met5619Ile) | 667 | DST | Uncertain significance | -1 | RCV002042208|RCV002397776; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56400004 | 56400004 | | | 56400004 | - | | |
NM_001374736.1(DST):c.16848C>T (p.Leu5616_Ser5617=) | 667 | DST | Uncertain significance | -1 | RCV002662499; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56400013 | 56400013 | | | NC_000006.11:g.56400013G>A | - | | |
NM_001374736.1(DST):c.16830T>A (p.Asp5610Glu) | 667 | DST | Uncertain significance | -1 | RCV003042870; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56400031 | 56400031 | | | NC_000006.11:g.56400031A>T | - | | |
NM_001374736.1(DST):c.16824C>G (p.Phe5608Leu) | 667 | DST | Uncertain significance | -1 | RCV001361894; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56400037 | 56400037 | | | 56400037 | - | | |
NM_001374736.1(DST):c.16814G>C (p.Cys5605Ser) | 667 | DST | Uncertain significance | rs1198301994 | RCV001240212; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56400047 | 56400047 | | | 6:g.56400047C>G | - | | |
NM_001374736.1(DST):c.16814G>A (p.Cys5605Tyr) | 667 | DST | Uncertain significance | -1 | RCV001896125; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56400047 | 56400047 | | | 56400047 | - | | |
NM_001374736.1(DST):c.16799A>G (p.Glu5600Gly) | 667 | DST | Uncertain significance | -1 | RCV001870083; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56400062 | 56400062 | | | 56400062 | - | | |
NM_001374736.1(DST):c.16788C>T (p.Ala5596=) | 667 | DST | Likely benign | -1 | RCV001479846; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56400073 | 56400073 | | | 56400073 | - | | |
NM_001374736.1(DST):c.16786G>A (p.Ala5596Thr) | 667 | DST | Uncertain significance | rs2096973219 | RCV001240991; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56400075 | 56400075 | | | 6:g.56400075C>T | - | | |
NM_001374736.1(DST):c.16781G>A (p.Arg5594Gln) | 667 | DST | Uncertain significance | rs766153258 | RCV001316610; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56400080 | 56400080 | | | 56400080 | - | | |
NM_001374736.1(DST):c.16780C>T (p.Arg5594Ter) | 667 | DST | Pathogenic | -1 | RCV001386390; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56400081 | 56400081 | | | 56400081 | - | | |
NM_001374736.1(DST):c.16772T>C (p.Val5591Ala) | 667 | DST | Uncertain significance | -1 | RCV001937861; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56400089 | 56400089 | | | 56400089 | - | | |
NM_001374736.1(DST):c.16771-11G>A | 667 | DST | Likely benign | -1 | RCV002156484; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56400101 | 56400101 | | | 56400101 | - | | |
NM_001374736.1(DST):c.16770+17del | 667 | DST | Benign | -1 | RCV002127746; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56401560 | 56401560 | | | 56401559 | - | | |
NM_001374736.1(DST):c.16770+11C>T | 667 | DST | Likely benign | -1 | RCV001941663; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56401566 | 56401566 | | | 56401566 | - | | |
NM_001374736.1(DST):c.16770+9C>G | 667 | DST | Likely benign | -1 | RCV002164834; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56401568 | 56401568 | | | 56401568 | - | | |
NM_001374736.1(DST):c.16770+8T>A | 667 | DST | Uncertain significance | -1 | RCV003055354; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56401569 | 56401569 | | | NC_000006.11:g.56401569A>T | - | | |
NM_001374736.1(DST):c.16770+5T>C | 667 | DST | Uncertain significance | -1 | RCV001362114|RCV002395803; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56401572 | 56401572 | | | 56401572 | - | | |
NM_001374736.1(DST):c.16763A>G (p.Asn5588Ser) | 667 | DST | Uncertain significance | -1 | RCV001366281; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56401584 | 56401584 | | | 56401584 | - | | |
NM_001374736.1(DST):c.16748G>A (p.Arg5583Gln) | 667 | DST | Uncertain significance | rs762460799 | RCV001244751|RCV002393646; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56401599 | 56401599 | | | 6:g.56401599C>T | - | | |
NM_001374736.1(DST):c.16747C>T (p.Arg5583Trp) | 667 | DST | Uncertain significance | rs568055144 | RCV001248337|RCV001311721; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56401600 | 56401600 | | | 6:g.56401600G>A | - | | |
NM_001374736.1(DST):c.16742A>G (p.Asn5581Ser) | 667 | DST | Uncertain significance | rs201488187 | RCV001243842|RCV002393641; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56401605 | 56401605 | | | 6:g.56401605T>C | - | | |
NM_001374736.1(DST):c.16703C>T (p.Thr5568Ile) | 667 | DST | Uncertain significance | -1 | RCV003087039; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56401644 | 56401644 | | | NC_000006.11:g.56401644G>A | - | | |
NM_001374736.1(DST):c.16701C>T (p.Ser5567=) | 667 | DST | Likely benign | -1 | RCV001417331; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56401646 | 56401646 | | | 56401646 | - | | |
NM_001374736.1(DST):c.16656T>C (p.Asp5552=) | 667 | DST | Likely benign | -1 | RCV001436429; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56401691 | 56401691 | | | 56401691 | - | | |
NM_001374736.1(DST):c.16653A>C (p.Gln5551His) | 667 | DST | Likely benign | -1 | RCV002198283|RCV002382465; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56401694 | 56401694 | | | 56401694 | - | | |
NM_001374736.1(DST):c.16634C>A (p.Pro5545His) | 667 | DST | Uncertain significance | rs776611722 | RCV001312948|RCV002384389; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56401713 | 56401713 | | | 56401713 | - | | |
NM_001374736.1(DST):c.16609G>T (p.Val5537Leu) | 667 | DST | Uncertain significance | rs199836343 | RCV001243166; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56401738 | 56401738 | | | 6:g.56401738C>A | - | | |
NM_001374736.1(DST):c.16609-1G>T | 667 | DST | Conflicting interpretations of pathogenicity | -1 | RCV001979595|RCV002569259; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56401739 | 56401739 | | | 56401739 | - | | |
NM_001374736.1(DST):c.16609-7A>C | 667 | DST | Likely benign | -1 | RCV001478273; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56401745 | 56401745 | | | 56401745 | - | | |
NM_001374736.1(DST):c.16609-9dup | 667 | DST | Benign | -1 | RCV002580833; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56401746 | 56401747 | | | NC_000006.11:g.56401750dup | - | | |
NM_001374736.1(DST):c.16609-14T>C | 667 | DST | Likely benign | -1 | RCV002117534; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56401752 | 56401752 | | | 56401752 | - | | |
NM_001374736.1(DST):c.16608+15A>G | 667 | DST | Likely benign | -1 | RCV002137504; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56416967 | 56416967 | | | 56416967 | - | | |
NM_001374736.1(DST):c.16608+13T>C | 667 | DST | Benign | -1 | RCV002086782; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56416969 | 56416969 | | | 56416969 | - | | |
NM_001374736.1(DST):c.16608+1G>A | 667 | DST | Likely pathogenic | -1 | RCV002026258; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56416981 | 56416981 | | | 56416981 | - | | |
NM_001374736.1(DST):c.16592A>T (p.Gln5531Leu) | 667 | DST | Uncertain significance | rs756517173 | RCV001243368; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56416998 | 56416998 | | | 6:g.56416998T>A | - | | |
NM_001374736.1(DST):c.16584T>G (p.Ile5528Met) | 667 | DST | Uncertain significance | -1 | RCV002828393; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417006 | 56417006 | | | NC_000006.11:g.56417006A>C | - | | |
NM_001374736.1(DST):c.16579A>G (p.Thr5527Ala) | 667 | DST | Uncertain significance | rs1350777647 | RCV001320750; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417011 | 56417011 | | | 56417011 | - | | |
NM_001374736.1(DST):c.16575G>A (p.Thr5525_Glu5526=) | 667 | DST | Benign | rs188035465 | RCV000979592; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417015 | 56417015 | | | 6:g.56417015C>T | - | | |
NM_001374736.1(DST):c.16574C>T (p.Thr5525Met) | 667 | DST | Uncertain significance | rs756527130 | RCV001244421|RCV002411901; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56417016 | 56417016 | | | 6:g.56417016G>A | - | | |
NM_001374736.1(DST):c.16572A>G (p.Glu5524=) | 667 | DST | Likely benign | -1 | RCV001400373; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417018 | 56417018 | | | 56417018 | - | | |
NM_001374736.1(DST):c.16565G>A (p.Gly5522Asp) | 667 | DST | Uncertain significance | -1 | RCV001928882; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417025 | 56417025 | | | 56417025 | - | | |
NM_001374736.1(DST):c.16562T>G (p.Val5521Gly) | 667 | DST | Uncertain significance | rs746708808 | RCV000819971; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417028 | 56417028 | | | 6:g.56417028A>C | - | | |
NM_001374736.1(DST):c.16540C>G (p.His5514Asp) | 667 | DST | Uncertain significance | -1 | RCV001949889; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417050 | 56417050 | | | 56417050 | - | | |
NM_001374736.1(DST):c.16534G>A (p.Glu5512Lys) | 667 | DST | Uncertain significance | rs375888742 | RCV001245162|RCV002348833; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56417056 | 56417056 | | | 6:g.56417056C>T | - | | |
NM_001374736.1(DST):c.16533C>T (p.Ala5511=) | 667 | DST | Likely benign | -1 | RCV002156179; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417057 | 56417057 | | | 56417057 | - | | |
NM_001374736.1(DST):c.16498A>C (p.Lys5500Gln) | 667 | DST | Uncertain significance | -1 | RCV002001256; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417092 | 56417092 | | | 56417092 | - | | |
NM_001374736.1(DST):c.16495A>T (p.Ser5499Cys) | 667 | DST | Conflicting interpretations of pathogenicity | rs180765536 | RCV000979078|RCV002354876; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56417095 | 56417095 | | | 6:g.56417095T>A | - | | |
NM_001374736.1(DST):c.16478G>A (p.Arg5493His) | 667 | DST | Uncertain significance | rs754436072 | RCV001247704; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417112 | 56417112 | | | 6:g.56417112C>T | - | | |
NM_001374736.1(DST):c.16477C>T (p.Arg5493Cys) | 667 | DST | Uncertain significance | rs186499004 | RCV001242954|RCV002451591; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56417113 | 56417113 | | | 6:g.56417113G>A | - | | |
NM_001374736.1(DST):c.16471A>G (p.Ile5491Val) | 667 | DST | Uncertain significance | rs754589018 | RCV001239512|RCV002447192; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56417119 | 56417119 | | | 6:g.56417119T>C | - | | |
NM_001374736.1(DST):c.16465G>A (p.Gly5489Arg) | 667 | DST | Uncertain significance | -1 | RCV001359633|RCV002447453; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56417125 | 56417125 | | | 56417125 | - | | |
NM_001374736.1(DST):c.16464A>C (p.Glu5488Asp) | 667 | DST | Uncertain significance | rs2097339072 | RCV001241534; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417126 | 56417126 | | | 6:g.56417126T>G | - | | |
NM_001374736.1(DST):c.16436G>A (p.Arg5479Gln) | 667 | DST | Uncertain significance | -1 | RCV002600955; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417154 | 56417154 | | | NC_000006.11:g.56417154C>T | - | | |
NM_001374736.1(DST):c.16435C>T (p.Arg5479Ter) | 667 | DST | Pathogenic | -1 | RCV001918214; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417155 | 56417155 | | | 56417155 | - | | |
NM_001374736.1(DST):c.16434C>T (p.Asp5478_Arg5479=) | 667 | DST | Uncertain significance | -1 | RCV003066044; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417156 | 56417156 | | | NC_000006.11:g.56417156G>A | - | | |
NM_001374736.1(DST):c.16428A>G (p.Leu5476_Leu5477=) | 667 | DST | Likely benign | -1 | RCV002603245; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417162 | 56417162 | | | NC_000006.11:g.56417162T>C | - | | |
NM_001374736.1(DST):c.16409G>A (p.Ser5470Asn) | 667 | DST | Uncertain significance | -1 | RCV002047389; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417181 | 56417181 | | | 56417181 | - | | |
NM_001374736.1(DST):c.16401G>A (p.Glu5467=) | 667 | DST | Likely benign | -1 | RCV001490266; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417189 | 56417189 | | | 56417189 | - | | |
NM_001374736.1(DST):c.16398G>A (p.Leu5466=) | 667 | DST | Benign | -1 | RCV001514394|RCV001712921; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56417192 | 56417192 | | | 56417192 | - | | |
NM_001374736.1(DST):c.16392G>A (p.Arg5464=) | 667 | DST | Likely benign | -1 | RCV001493593; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417198 | 56417198 | | | 56417198 | - | | |
NM_001374736.1(DST):c.16377T>C (p.Leu5459=) | 667 | DST | Likely benign | -1 | RCV001484815; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417213 | 56417213 | | | 56417213 | - | | |
NM_001374736.1(DST):c.16365C>T (p.Thr5455=) | 667 | DST | Likely benign | -1 | RCV001418541; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417225 | 56417225 | | | 56417225 | - | | |
NM_001374736.1(DST):c.16363A>T (p.Thr5455Ser) | 667 | DST | Uncertain significance | rs1348429203 | RCV001242565; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417227 | 56417227 | | | 6:g.56417227T>A | - | | |
NM_001374736.1(DST):c.16342A>G (p.Met5448Val) | 667 | DST | Uncertain significance | rs202185251 | RCV001248188|RCV002379949; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56417248 | 56417248 | | | 6:g.56417248T>C | - | | |
NM_001374736.1(DST):c.16328A>G (p.Asn5443Ser) | 667 | DST | Uncertain significance | -1 | RCV002038304; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417262 | 56417262 | | | 56417262 | - | | |
NM_001374736.1(DST):c.16324G>A (p.Ala5442Thr) | 667 | DST | Uncertain significance | -1 | RCV001359110; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417266 | 56417266 | | | 56417266 | - | | |
NM_001374736.1(DST):c.16323T>C (p.Asn5441=) | 667 | DST | Benign | -1 | RCV001521193; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417267 | 56417267 | | | 56417267 | - | | |
NM_001374736.1(DST):c.16314C>G (p.Ser5438Arg) | 667 | DST | Uncertain significance | rs750722953 | RCV001323598|RCV002384429; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56417276 | 56417276 | | | 56417276 | - | | |
NM_001374736.1(DST):c.16308G>A (p.Met5436Ile) | 667 | DST | Benign | rs4715630 | RCV000603185|RCV001510448|RCV001692226|RCV001662662|RCV001701394; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:6154 | 6 | 56417282 | 56417282 | | | 6:g.56417282C>T | ClinGen:CA3867697 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | |
NM_001374736.1(DST):c.16306A>T (p.Met5436Leu) | 667 | DST | Uncertain significance | -1 | RCV001363291; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417284 | 56417284 | | | 56417284 | - | | |
NM_001374736.1(DST):c.16306A>C (p.Met5436Leu) | 667 | DST | Uncertain significance | -1 | RCV001986467; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417284 | 56417284 | | | 56417284 | - | | |
NM_001374736.1(DST):c.16304T>C (p.Leu5435Pro) | 667 | DST | Uncertain significance | -1 | RCV001996814; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417286 | 56417286 | | | 56417286 | - | | |
NM_001374736.1(DST):c.16298A>G (p.Glu5433Gly) | 667 | DST | Uncertain significance | rs1275382438 | RCV001348816; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417292 | 56417292 | | | 56417292 | - | | |
NM_001374736.1(DST):c.16290G>T (p.Lys5430Asn) | 667 | DST | Uncertain significance | -1 | RCV002904504; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417300 | 56417300 | | | NC_000006.11:g.56417300C>A | - | | |
NM_001374736.1(DST):c.16236G>A (p.Gly5412=) | 667 | DST | Likely benign | -1 | RCV001392407; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417354 | 56417354 | | | 56417354 | - | | |
NM_001374736.1(DST):c.16235G>A (p.Gly5412Glu) | 667 | DST | Uncertain significance | rs775546048 | RCV001320133; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417355 | 56417355 | | | 56417355 | - | | |
NM_001374736.1(DST):c.16233G>C (p.Val5411=) | 667 | DST | Likely benign | -1 | RCV001481965; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417357 | 56417357 | | | 56417357 | - | | |
NM_001374736.1(DST):c.16221C>A (p.Ser5407Arg) | 667 | DST | Uncertain significance | -1 | RCV001369577; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417369 | 56417369 | | | 56417369 | - | | |
NM_001374736.1(DST):c.16195G>A (p.Ala5399Thr) | 667 | DST | Uncertain significance | rs553940584 | RCV001245229; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417395 | 56417395 | | | 6:g.56417395C>T | - | | |
NM_001374736.1(DST):c.16195G>T (p.Ala5399Ser) | 667 | DST | Uncertain significance | rs553940584 | RCV001349226; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417395 | 56417395 | | | 56417395 | - | | |
NM_001374736.1(DST):c.16194C>T (p.Phe5398=) | 667 | DST | Likely benign | -1 | RCV001483486; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417396 | 56417396 | | | 56417396 | - | | |
NM_001374736.1(DST):c.16189C>A (p.Gln5397Lys) | 667 | DST | Uncertain significance | -1 | RCV003014068; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417401 | 56417401 | | | NC_000006.11:g.56417401G>T | - | | |
NM_001374736.1(DST):c.16179A>G (p.Glu5393=) | 667 | DST | Likely benign | -1 | RCV002103722; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417411 | 56417411 | | | 56417411 | - | | |
NM_001374736.1(DST):c.16175G>A (p.Arg5392Gln) | 667 | DST | Uncertain significance | rs201501487 | RCV001245025|RCV002375297; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56417415 | 56417415 | | | 6:g.56417415C>T | - | | |
NM_001374736.1(DST):c.16174C>G (p.Arg5392Gly) | 667 | DST | Uncertain significance | rs755738894 | RCV001246992; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417416 | 56417416 | | | 6:g.56417416G>C | - | | |
NM_001374736.1(DST):c.16174C>T (p.Arg5392Ter) | 667 | DST | Pathogenic | -1 | RCV001950928; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417416 | 56417416 | | | 56417416 | - | | |
NM_001374736.1(DST):c.16169C>T (p.Thr5390Ile) | 667 | DST | Uncertain significance | -1 | RCV001962446; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417421 | 56417421 | | | 56417421 | - | | |
NM_001374736.1(DST):c.16148G>A (p.Gly5383Asp) | 667 | DST | Uncertain significance | rs1489999843 | RCV001320078; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417442 | 56417442 | | | 56417442 | - | | |
NM_001374736.1(DST):c.16116A>G (p.Glu5372=) | 667 | DST | Likely benign | -1 | RCV002210567; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417474 | 56417474 | | | 56417474 | - | | |
NM_001374736.1(DST):c.16107G>A (p.Gln5369_Val5370=) | 667 | DST | Likely benign | -1 | RCV003013658; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417483 | 56417483 | | | NC_000006.11:g.56417483C>T | - | | |
NM_001374736.1(DST):c.16088A>G (p.His5363Arg) | 667 | DST | Uncertain significance | -1 | RCV001992856; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417502 | 56417502 | | | 56417502 | - | | |
NM_001374736.1(DST):c.16078G>A (p.Ala5360Thr) | 667 | DST | Uncertain significance | rs779849952 | RCV001245916; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417512 | 56417512 | | | 6:g.56417512C>T | - | | |
NM_001374736.1(DST):c.16070A>G (p.Glu5357Gly) | 667 | DST | Uncertain significance | -1 | RCV002008241; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417520 | 56417520 | | | 56417520 | - | | |
NM_001374736.1(DST):c.16065A>G (p.Gln5355=) | 667 | DST | Likely benign | -1 | RCV001469378; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417525 | 56417525 | | | 56417525 | - | | |
NM_001374736.1(DST):c.16059A>T (p.Leu5353Phe) | 667 | DST | Uncertain significance | -1 | RCV001892887|RCV002370457; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56417531 | 56417531 | | | 56417531 | - | | |
NM_001374736.1(DST):c.16054G>A (p.Val5352Ile) | 667 | DST | Uncertain significance | -1 | RCV003019715; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417536 | 56417536 | | | NC_000006.11:g.56417536C>T | - | | |
NM_001374736.1(DST):c.16052A>C (p.Asp5351Ala) | 667 | DST | Uncertain significance | rs1287393894 | RCV001245368; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417538 | 56417538 | | | 6:g.56417538T>G | - | | |
NM_001374736.1(DST):c.16047C>G (p.Thr5349_Ser5350=) | 667 | DST | Likely benign | rs370841140 | RCV000979752|RCV001726403; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56417543 | 56417543 | | | 6:g.56417543G>C | - | | |
NM_001374736.1(DST):c.16047C>T (p.Thr5349_Ser5350=) | 667 | DST | Uncertain significance | -1 | RCV002611615; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417543 | 56417543 | | | NC_000006.11:g.56417543G>A | - | | |
NM_001374736.1(DST):c.16045A>G (p.Thr5349Ala) | 667 | DST | Benign | rs4715631 | RCV000608135|RCV001510449|RCV001662663|RCV001692227|RCV001701395; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121 | 6 | 56417545 | 56417545 | | | NC_000006.11:g.56417545T>C | ClinGen:CA3867736 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | |
NM_001374736.1(DST):c.16034A>G (p.Asp5345Gly) | 667 | DST | Uncertain significance | rs749976441 | RCV001245721; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417556 | 56417556 | | | 6:g.56417556T>C | - | | |
NM_001374736.1(DST):c.16013A>G (p.Asp5338Gly) | 667 | DST | Uncertain significance | -1 | RCV003031181; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417577 | 56417577 | | | NC_000006.11:g.56417577T>C | - | | |
NM_001374736.1(DST):c.16012G>C (p.Asp5338His) | 667 | DST | Uncertain significance | -1 | RCV003067739; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417578 | 56417578 | | | NC_000006.11:g.56417578C>G | - | | |
NM_001374736.1(DST):c.16011G>C (p.Gln5337His) | 667 | DST | Uncertain significance | -1 | RCV002376508|RCV003094849; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417579 | 56417579 | | | 56417579 | - | | |
NM_001374736.1(DST):c.16008A>C (p.Ala5336=) | 667 | DST | Likely benign | -1 | RCV001502908; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417582 | 56417582 | | | 56417582 | - | | |
NM_001374736.1(DST):c.15962C>T (p.Ser5321Leu) | 667 | DST | Uncertain significance | -1 | RCV002851044; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417628 | 56417628 | | | NC_000006.11:g.56417628G>A | - | | |
NM_001374736.1(DST):c.15941T>G (p.Met5314Arg) | 667 | DST | Uncertain significance | rs1325893287 | RCV001313692; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417649 | 56417649 | | | 56417649 | - | | |
NM_001374736.1(DST):c.15938C>T (p.Thr5313Ile) | 667 | DST | Uncertain significance | -1 | RCV002374335|RCV003094833; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417652 | 56417652 | | | 56417652 | - | | |
NM_001374736.1(DST):c.15915G>C (p.Gln5305His) | 667 | DST | Uncertain significance | -1 | RCV003068895; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417675 | 56417675 | | | NC_000006.11:g.56417675C>G | - | | |
NM_001374736.1(DST):c.15903G>T (p.Ser5301=) | 667 | DST | Likely benign | -1 | RCV001417144; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417687 | 56417687 | | | 56417687 | - | | |
NM_001374736.1(DST):c.15903G>A (p.Ser5301=) | 667 | DST | Likely benign | -1 | RCV001443655; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417687 | 56417687 | | | 56417687 | - | | |
NM_001374736.1(DST):c.15903G>C (p.Ser5301_Leu5302=) | 667 | DST | Likely benign | -1 | RCV003081459; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417687 | 56417687 | | | NC_000006.11:g.56417687C>G | - | | |
NM_001374736.1(DST):c.15902C>T (p.Ser5301Leu) | 667 | DST | Uncertain significance | rs112177059 | RCV000488374|RCV001243783|RCV002376890; | N | MedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56417688 | 56417688 | | | 6:g.56417688G>A | ClinGen:CA3867760 | CN517202 not provided; | |
NM_001374736.1(DST):c.15898G>A (p.Asp5300Asn) | 667 | DST | Uncertain significance | rs200661658 | RCV001298258; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417692 | 56417692 | | | 56417692 | - | | |
NM_001374736.1(DST):c.15897T>C (p.His5299=) | 667 | DST | Likely benign | -1 | RCV001451341; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417693 | 56417693 | | | 56417693 | - | | |
NM_001374736.1(DST):c.15888A>G (p.Leu5296=) | 667 | DST | Likely benign | -1 | RCV001431514; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417702 | 56417702 | | | 56417702 | - | | |
NM_001374736.1(DST):c.15880G>A (p.Glu5294Lys) | 667 | DST | Uncertain significance | -1 | RCV001871245; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417710 | 56417710 | | | 56417710 | - | | |
NM_001374736.1(DST):c.15877A>G (p.Lys5293Glu) | 667 | DST | Uncertain significance | rs888556461 | RCV001241123; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417713 | 56417713 | | | 6:g.56417713T>C | - | | |
NM_001374736.1(DST):c.15872G>A (p.Cys5291Tyr) | 667 | DST | Uncertain significance | -1 | RCV001940068; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417718 | 56417718 | | | 56417718 | - | | |
NM_001374736.1(DST):c.15861G>A (p.Arg5287_Gln5288=) | 667 | DST | Benign | rs58928900 | RCV000979007|RCV001712830; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56417729 | 56417729 | | | 6:g.56417729C>T | - | | |
NM_001374736.1(DST):c.15854C>T (p.Ser5285Phe) | 667 | DST | Uncertain significance | -1 | RCV001918544; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417736 | 56417736 | | | 56417736 | - | | |
NM_001374736.1(DST):c.15836AAG[1] (p.Glu5280del) | 667 | DST | Uncertain significance | rs1233181836 | RCV001243843; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417749 | 56417751 | | | 6:g.56417749_56417751del | - | | |
NM_001374736.1(DST):c.15836A>G (p.Gln5279Arg) | 667 | DST | Uncertain significance | -1 | RCV001928532; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417754 | 56417754 | | | 56417754 | - | | |
NM_001374736.1(DST):c.15825T>C (p.Phe5275=) | 667 | DST | Likely benign | -1 | RCV001405650; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417765 | 56417765 | | | 56417765 | - | | |
NM_001374736.1(DST):c.15807G>C (p.Glu5269Asp) | 667 | DST | Uncertain significance | -1 | RCV002587247; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417783 | 56417783 | | | NC_000006.11:g.56417783C>G | - | | |
NM_001374736.1(DST):c.15804G>A (p.Leu5268=) | 667 | DST | Likely benign | -1 | RCV001395643; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417786 | 56417786 | | | 56417786 | - | | |
NM_001374736.1(DST):c.15788G>A (p.Ser5263Asn) | 667 | DST | Uncertain significance | rs374575683 | RCV001247836|RCV001508545|RCV002375303; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 6 | 56417802 | 56417802 | | | 6:g.56417802C>T | - | | |
NM_001374736.1(DST):c.15784C>T (p.His5262Tyr) | 667 | DST | Uncertain significance | -1 | RCV001928890|RCV002442873; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56417806 | 56417806 | | | 56417806 | - | | |
NM_001374736.1(DST):c.15781C>A (p.Leu5261Ile) | 667 | DST | Uncertain significance | rs762522099 | RCV001240405|RCV002375270; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56417809 | 56417809 | | | 6:g.56417809G>T | - | | |
NM_001374736.1(DST):c.15766A>G (p.Met5256Val) | 667 | DST | Uncertain significance | -1 | RCV002041785; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417824 | 56417824 | | | 56417824 | - | | |
NM_001374736.1(DST):c.15765C>T (p.Asp5255=) | 667 | DST | Likely benign | -1 | RCV001467258; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417825 | 56417825 | | | 56417825 | - | | |
NM_001374736.1(DST):c.15734A>T (p.Asp5245Val) | 667 | DST | Uncertain significance | rs1248294838 | RCV001348840; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417856 | 56417856 | | | 56417856 | - | | |
NM_001374736.1(DST):c.15714A>G (p.Ile5238Met) | 667 | DST | Uncertain significance | -1 | RCV002030640; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417876 | 56417876 | | | 56417876 | - | | |
NM_001374736.1(DST):c.15711G>A (p.Glu5237=) | 667 | DST | Likely benign | -1 | RCV001433295; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417879 | 56417879 | | | 56417879 | - | | |
NM_001374736.1(DST):c.15709G>A (p.Glu5237Lys) | 667 | DST | Uncertain significance | rs2097347589 | RCV001245230; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417881 | 56417881 | | | 6:g.56417881C>T | - | | |
NM_001374736.1(DST):c.15699C>T (p.Leu5233=) | 667 | DST | Likely benign | -1 | RCV002209358; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417891 | 56417891 | | | 56417891 | - | | |
NM_001374736.1(DST):c.15696G>A (p.Leu5232=) | 667 | DST | Likely benign | -1 | RCV001413182; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417894 | 56417894 | | | 56417894 | - | | |
NM_001374736.1(DST):c.15696G>C (p.Leu5232Phe) | 667 | DST | Uncertain significance | -1 | RCV002588072; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417894 | 56417894 | | | NC_000006.11:g.56417894C>G | - | | |
NM_001374736.1(DST):c.15690T>C (p.Asn5230=) | 667 | DST | Likely benign | -1 | RCV002163198; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417900 | 56417900 | | | 56417900 | - | | |
NM_001374736.1(DST):c.15689A>G (p.Asn5230Ser) | 667 | DST | Uncertain significance | -1 | RCV002371642|RCV002469475|RCV003100147; | N | MeSH:D030342,MedGen:C0950123|MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417901 | 56417901 | | | 56417901 | - | | |
NM_001374736.1(DST):c.15670T>G (p.Leu5224Val) | 667 | DST | Uncertain significance | rs2097348097 | RCV001241252; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417920 | 56417920 | | | 6:g.56417920A>C | - | | |
NM_001374736.1(DST):c.15655T>A (p.Phe5219Ile) | 667 | DST | Uncertain significance | -1 | RCV002717336; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417935 | 56417935 | | | NC_000006.11:g.56417935A>T | - | | |
NM_001374736.1(DST):c.15653A>C (p.His5218Pro) | 667 | DST | Uncertain significance | rs2097348376 | RCV001247903; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417937 | 56417937 | | | 6:g.56417937T>G | - | | |
NM_001374736.1(DST):c.15624A>G (p.Leu5208=) | 667 | DST | Likely benign | -1 | RCV002159430; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417966 | 56417966 | | | 56417966 | - | | |
NM_001374736.1(DST):c.15602G>C (p.Gly5201Ala) | 667 | DST | Uncertain significance | rs763915802 | RCV001248339; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417988 | 56417988 | | | 6:g.56417988C>G | - | | |
NM_001374736.1(DST):c.15586T>C (p.Leu5196_Asp5197=) | 667 | DST | Benign | rs200133509 | RCV000979015; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418004 | 56418004 | | | 6:g.56418004A>G | - | | |
NM_001374736.1(DST):c.15584G>A (p.Cys5195Tyr) | 667 | DST | Benign/Likely benign | rs57472891 | RCV000979008|RCV001692330; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56418006 | 56418006 | | | 6:g.56418006C>T | - | | |
NM_001374736.1(DST):c.15581T>G (p.Phe5194Cys) | 667 | DST | Uncertain significance | -1 | RCV002820806; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418009 | 56418009 | | | NC_000006.11:g.56418009A>C | - | | |
NM_001374736.1(DST):c.15570G>A (p.Glu5190_Glu5191=) | 667 | DST | Benign/Likely benign | rs200941177 | RCV000979013|RCV002512134; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56418020 | 56418020 | | | 6:g.56418020C>T | - | | |
NM_001374736.1(DST):c.15564C>T (p.Asn5188=) | 667 | DST | Likely benign | -1 | RCV001414096; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418026 | 56418026 | | | 56418026 | - | | |
NM_001374736.1(DST):c.15540A>G (p.Pro5180=) | 667 | DST | Likely benign | -1 | RCV002090868; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418050 | 56418050 | | | 56418050 | - | | |
NM_001374736.1(DST):c.15534C>T (p.Leu5178=) | 667 | DST | Likely benign | -1 | RCV002167677; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418056 | 56418056 | | | 56418056 | - | | |
NM_001374736.1(DST):c.15528G>T (p.Glu5176Asp) | 667 | DST | Uncertain significance | -1 | RCV001365638; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418062 | 56418062 | | | 56418062 | - | | |
NM_001374736.1(DST):c.15526G>C (p.Glu5176Gln) | 667 | DST | Uncertain significance | rs770419341 | RCV001244481; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418064 | 56418064 | | | 6:g.56418064C>G | - | | |
NM_001374736.1(DST):c.15489G>C (p.Glu5163Asp) | 667 | DST | Conflicting interpretations of pathogenicity | -1 | RCV001911550|RCV002370479; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56418101 | 56418101 | | | 56418101 | - | | |
NM_001374736.1(DST):c.15486A>G (p.Lys5162_Glu5163=) | 667 | DST | Likely benign | rs1584777193 | RCV000983179; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418104 | 56418104 | | | 6:g.56418104T>C | - | | |
NM_001374736.1(DST):c.15465A>G (p.Lys5155=) | 667 | DST | Likely benign | -1 | RCV002102783; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418125 | 56418125 | | | 56418125 | - | | |
NM_001374736.1(DST):c.15446C>T (p.Thr5149Ile) | 667 | DST | Uncertain significance | rs369194519 | RCV001245233|RCV002447215; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56418144 | 56418144 | | | 6:g.56418144G>A | - | | |
NM_001374736.1(DST):c.15434C>T (p.Thr5145Ile) | 667 | DST | Uncertain significance | -1 | RCV002720767; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418156 | 56418156 | | | NC_000006.11:g.56418156G>A | - | | |
NM_001374736.1(DST):c.15426A>G (p.Thr5142_Ile5143=) | 667 | DST | Likely benign | rs767246314 | RCV000981895; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418164 | 56418164 | | | 6:g.56418164T>C | - | | |
NM_001374736.1(DST):c.15406T>G (p.Leu5136Val) | 667 | DST | Uncertain significance | rs750727762 | RCV001327634|RCV002377427; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56418184 | 56418184 | | | 56418184 | - | | |
NM_001374736.1(DST):c.15404C>T (p.Ala5135Val) | 667 | DST | Uncertain significance | -1 | RCV002650339; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418186 | 56418186 | | | NC_000006.11:g.56418186G>A | - | | |
NM_001374736.1(DST):c.15398A>G (p.Lys5133Arg) | 667 | DST | Uncertain significance | -1 | RCV001901028|RCV002370466; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56418192 | 56418192 | | | 56418192 | - | | |
NM_001374736.1(DST):c.15376T>C (p.Leu5126=) | 667 | DST | Likely benign | -1 | RCV001492401; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418214 | 56418214 | | | 56418214 | - | | |
NM_001374736.1(DST):c.15360del (p.Gly5121fs) | 667 | DST | Pathogenic | -1 | RCV001872177; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418230 | 56418230 | | | 56418229 | - | | |
NM_001374736.1(DST):c.15356C>T (p.Ala5119Val) | 667 | DST | Uncertain significance | -1 | RCV001887817; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418234 | 56418234 | | | 56418234 | - | | |
NM_001374736.1(DST):c.15353T>C (p.Ile5118Thr) | 667 | DST | Uncertain significance | -1 | RCV001914752; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418237 | 56418237 | | | 56418237 | - | | |
NM_001374736.1(DST):c.15352A>G (p.Ile5118Val) | 667 | DST | Uncertain significance | -1 | RCV003077287; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418238 | 56418238 | | | NC_000006.11:g.56418238T>C | - | | |
NM_001374736.1(DST):c.15341A>G (p.Tyr5114Cys) | 667 | DST | Uncertain significance | rs866453035 | RCV001245719; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418249 | 56418249 | | | 6:g.56418249T>C | - | | |
NM_001374736.1(DST):c.15334C>A (p.His5112Asn) | 667 | DST | Uncertain significance | rs2097351978 | RCV001239996; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418256 | 56418256 | | | 6:g.56418256G>T | - | | |
NM_001374736.1(DST):c.15327T>C (p.Ala5109=) | 667 | DST | Likely benign | -1 | RCV001467256; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418263 | 56418263 | | | 56418263 | - | | |
NM_001374736.1(DST):c.15327T>A (p.Ala5109=) | 667 | DST | Likely benign | -1 | RCV002090228; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418263 | 56418263 | | | 56418263 | - | | |
NM_001374736.1(DST):c.15326C>T (p.Ala5109Val) | 667 | DST | Uncertain significance | -1 | RCV002731189; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418264 | 56418264 | | | NC_000006.11:g.56418264G>A | - | | |
NM_001374736.1(DST):c.15325G>A (p.Ala5109Thr) | 667 | DST | Uncertain significance | -1 | RCV003075195; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418265 | 56418265 | | | NC_000006.11:g.56418265C>T | - | | |
NM_001374736.1(DST):c.15310A>G (p.Ser5104Gly) | 667 | DST | Uncertain significance | -1 | RCV001922548; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418280 | 56418280 | | | 56418280 | - | | |
NM_001374736.1(DST):c.15309T>A (p.Phe5103Leu) | 667 | DST | Uncertain significance | rs191081991 | RCV000625440|RCV000998632|RCV001240921|RCV002377335; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56418281 | 56418281 | | | 6:g.56418281A>T | ClinGen:CA3867837 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | |
NM_001374736.1(DST):c.15308T>C (p.Phe5103Ser) | 667 | DST | Uncertain significance | -1 | RCV001899540; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418282 | 56418282 | | | 56418282 | - | | |
NM_001374736.1(DST):c.15300T>A (p.His5100Gln) | 667 | DST | Uncertain significance | -1 | RCV001362112|RCV002447460; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56418290 | 56418290 | | | 56418290 | - | | |
NM_001374736.1(DST):c.15299A>G (p.His5100Arg) | 667 | DST | Uncertain significance | -1 | RCV001939767; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418291 | 56418291 | | | 56418291 | - | | |
NM_001374736.1(DST):c.15271G>A (p.Asp5091Asn) | 667 | DST | Uncertain significance | rs148831744 | RCV001239511|RCV001810003|RCV002375263; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56418319 | 56418319 | | | 6:g.56418319C>T | - | | |
NM_001374736.1(DST):c.15270C>T (p.Leu5090_Asp5091=) | 667 | DST | Uncertain significance | -1 | RCV003061358; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418320 | 56418320 | | | NC_000006.11:g.56418320G>A | - | | |
NM_001374736.1(DST):c.15262G>A (p.Ala5088Thr) | 667 | DST | Uncertain significance | rs2097352781 | RCV001248042; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418328 | 56418328 | | | 6:g.56418328C>T | - | | |
NM_001374736.1(DST):c.15242A>T (p.Asn5081Ile) | 667 | DST | Uncertain significance | rs537433450 | RCV001248469; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418348 | 56418348 | | | 6:g.56418348T>A | - | | |
NM_001374736.1(DST):c.15216G>A (p.Trp5072Ter) | 667 | DST | Pathogenic/Likely pathogenic | rs893650971 | RCV000521976|RCV001244880; | N | MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418374 | 56418374 | | | 6:g.56418374C>T | ClinGen:CA364517866 | CN517202 not provided; | |
NM_001374736.1(DST):c.15216G>C (p.Trp5072Cys) | 667 | DST | Uncertain significance | -1 | RCV001945821; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418374 | 56418374 | | | 56418374 | - | | |
NM_001374736.1(DST):c.15203A>T (p.Asp5068Val) | 667 | DST | Uncertain significance | rs2097353414 | RCV001299644; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418387 | 56418387 | | | 56418387 | - | | |
NM_001374736.1(DST):c.15199A>G (p.Arg5067Gly) | 667 | DST | Uncertain significance | rs768224900 | RCV001246393; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418391 | 56418391 | | | 6:g.56418391T>C | - | | |
NM_001374736.1(DST):c.15191A>G (p.Gln5064Arg) | 667 | DST | Benign/Likely benign | rs143438011 | RCV000979026|RCV001766802; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56418399 | 56418399 | | | 6:g.56418399T>C | - | | |
NM_001374736.1(DST):c.15174C>T (p.Ser5058=) | 667 | DST | Benign | -1 | RCV001517026; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418416 | 56418416 | | | 56418416 | - | | |
NM_001374736.1(DST):c.15170C>T (p.Ala5057Val) | 667 | DST | Uncertain significance | -1 | RCV001990280; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418420 | 56418420 | | | 56418420 | - | | |
NM_001374736.1(DST):c.15163G>A (p.Ala5055Thr) | 667 | DST | Uncertain significance | -1 | RCV001998528|RCV002370646; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56418427 | 56418427 | | | 56418427 | - | | |
NM_001374736.1(DST):c.15162G>A (p.Ser5054=) | 667 | DST | Likely benign | -1 | RCV002116742; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418428 | 56418428 | | | 56418428 | - | | |
NM_001374736.1(DST):c.15161C>T (p.Ser5054Leu) | 667 | DST | Uncertain significance | -1 | RCV001880947; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418429 | 56418429 | | | 56418429 | - | | |
NM_001374736.1(DST):c.15159G>T (p.Gln5053His) | 667 | DST | Uncertain significance | -1 | RCV001904969; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418431 | 56418431 | | | 56418431 | - | | |
NM_001374736.1(DST):c.15147C>G (p.Val5049=) | 667 | DST | Likely benign | -1 | RCV002179175; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418443 | 56418443 | | | 56418443 | - | | |
NM_001374736.1(DST):c.15143A>T (p.His5048Leu) | 667 | DST | Uncertain significance | -1 | RCV002022293; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418447 | 56418447 | | | 56418447 | - | | |
NM_001374736.1(DST):c.15138G>T (p.Glu5046Asp) | 667 | DST | Uncertain significance | -1 | RCV002631399; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418452 | 56418452 | | | NC_000006.11:g.56418452C>A | - | | |
NM_001374736.1(DST):c.15137-16G>A | 667 | DST | Uncertain significance | -1 | RCV003081890; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418469 | 56418469 | | | NC_000006.11:g.56418469C>T | - | | |
NM_001374736.1(DST):c.15136+19C>T | 667 | DST | Uncertain significance | -1 | RCV003091157; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420124 | 56420124 | | | NC_000006.11:g.56420124G>A | - | | |
NM_001374736.1(DST):c.15121G>A (p.Val5041Ile) | 667 | DST | Benign | -1 | RCV001510456|RCV001685372; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56420158 | 56420158 | | | 56420158 | - | | |
NM_001374736.1(DST):c.15094G>A (p.Glu5032Lys) | 667 | DST | Uncertain significance | -1 | RCV002373509|RCV003100014; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420185 | 56420185 | | | 56420185 | - | | |
NM_001374736.1(DST):c.15092T>A (p.Leu5031Gln) | 667 | DST | Uncertain significance | -1 | RCV001363050; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420187 | 56420187 | | | 56420187 | - | | |
NM_001374736.1(DST):c.15091C>A (p.Leu5031Ile) | 667 | DST | Uncertain significance | -1 | RCV003022172; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420188 | 56420188 | | | NC_000006.11:g.56420188G>T | - | | |
NM_001374736.1(DST):c.15085A>G (p.Arg5029Gly) | 667 | DST | Uncertain significance | rs2097397900 | RCV001246126; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420194 | 56420194 | | | 6:g.56420194T>C | - | | |
NM_001374736.1(DST):c.15083G>A (p.Ser5028Asn) | 667 | DST | Uncertain significance | -1 | RCV001950543; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420196 | 56420196 | | | 56420196 | - | | |
NM_001374736.1(DST):c.15070A>G (p.Lys5024Glu) | 667 | DST | Uncertain significance | -1 | RCV002938468; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420209 | 56420209 | | | NC_000006.11:g.56420209T>C | - | | |
NM_001374736.1(DST):c.15065A>G (p.Tyr5022Cys) | 667 | DST | Uncertain significance | -1 | RCV003081461; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420214 | 56420214 | | | NC_000006.11:g.56420214T>C | - | | |
NM_001374736.1(DST):c.15057A>C (p.Lys5019Asn) | 667 | DST | Uncertain significance | rs952108992 | RCV001246993; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420222 | 56420222 | | | 6:g.56420222T>G | - | | |
NM_001374736.1(DST):c.15032G>A (p.Cys5011Tyr) | 667 | DST | Uncertain significance | -1 | RCV003040259; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420247 | 56420247 | | | NC_000006.11:g.56420247C>T | - | | |
NM_001374736.1(DST):c.15028C>G (p.Leu5010Val) | 667 | DST | Uncertain significance | -1 | RCV001889385; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420251 | 56420251 | | | 56420251 | - | | |
NM_001374736.1(DST):c.15025G>T (p.Ala5009Ser) | 667 | DST | Uncertain significance | -1 | RCV002848212; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420254 | 56420254 | | | NC_000006.11:g.56420254C>A | - | | |
NM_001374736.1(DST):c.15004A>C (p.Lys5002Gln) | 667 | DST | Likely benign | -1 | RCV001484809|RCV002449282; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56420275 | 56420275 | | | 56420275 | - | | |
NM_001374736.1(DST):c.14972A>C (p.Gln4991Pro) | 667 | DST | Uncertain significance | rs2097399604 | RCV001239100; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420307 | 56420307 | | | 6:g.56420307T>G | - | | |
NM_001374736.1(DST):c.14959T>C (p.Leu4987_Glu4988=) | 667 | DST | Benign | rs78470764 | RCV000979576; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420320 | 56420320 | | | 6:g.56420320A>G | - | | |
NM_001374736.1(DST):c.14957A>C (p.Gln4986Pro) | 667 | DST | Uncertain significance | -1 | RCV002614222; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420322 | 56420322 | | | NC_000006.11:g.56420322T>G | - | | |
NM_001374736.1(DST):c.14952C>T (p.Asn4984=) | 667 | DST | Likely benign | -1 | RCV002099271; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420327 | 56420327 | | | 56420327 | - | | |
NM_001374736.1(DST):c.14951A>G (p.Asn4984Ser) | 667 | DST | Uncertain significance | rs751619980 | RCV001246729; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420328 | 56420328 | | | 6:g.56420328T>C | - | | |
NM_001374736.1(DST):c.14947A>G (p.Met4983Val) | 667 | DST | Uncertain significance | rs188156383 | RCV002447221|RCV001246730; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420332 | 56420332 | | | 6:g.56420332T>C | - | | |
NM_001374736.1(DST):c.14947A>C (p.Met4983Leu) | 667 | DST | Uncertain significance | rs188156383 | RCV001248470|RCV002447229; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56420332 | 56420332 | | | 6:g.56420332T>G | - | | |
NM_001374736.1(DST):c.14944G>A (p.Ala4982Thr) | 667 | DST | Uncertain significance | -1 | RCV001884821; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420335 | 56420335 | | | 56420335 | - | | |
NM_001374736.1(DST):c.14937C>T (p.His4979=) | 667 | DST | Likely benign | -1 | RCV001488166; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420342 | 56420342 | | | 56420342 | - | | |
NM_001374736.1(DST):c.14936A>G (p.His4979Arg) | 667 | DST | Uncertain significance | rs763236400 | RCV001244360; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420343 | 56420343 | | | 6:g.56420343T>C | - | | |
NM_001374736.1(DST):c.14934G>A (p.Thr4978=) | 667 | DST | Likely benign | -1 | RCV001413657; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420345 | 56420345 | | | 56420345 | - | | |
NM_001374736.1(DST):c.14933C>T (p.Thr4978Met) | 667 | DST | Uncertain significance | rs202121891 | RCV001245166|RCV002447213; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56420346 | 56420346 | | | 6:g.56420346G>A | - | | |
NM_001374736.1(DST):c.14904T>C (p.Asn4968_Lys4969=) | 667 | DST | Likely benign | -1 | RCV002594032; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420375 | 56420375 | | | NC_000006.11:g.56420375A>G | - | | |
NM_001374736.1(DST):c.14880T>C (p.Ser4960=) | 667 | DST | Likely benign | -1 | RCV001466429; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420399 | 56420399 | | | 56420399 | - | | |
NM_001374736.1(DST):c.14874C>A (p.Ser4958Arg) | 667 | DST | Uncertain significance | rs746641066 | RCV001243635; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420405 | 56420405 | | | 6:g.56420405G>T | - | | |
NM_001374736.1(DST):c.14874C>G (p.Ser4958Arg) | 667 | DST | Uncertain significance | -1 | RCV001984644; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420405 | 56420405 | | | 56420405 | - | | |
NM_001374736.1(DST):c.14870G>C (p.Arg4957Thr) | 667 | DST | Uncertain significance | -1 | RCV002866179; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420409 | 56420409 | | | NC_000006.11:g.56420409C>G | - | | |
NM_001374736.1(DST):c.14861G>A (p.Ser4954Asn) | 667 | DST | Uncertain significance | rs1360966681 | RCV001322234; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420418 | 56420418 | | | 56420418 | - | | |
NM_001374736.1(DST):c.14815T>G (p.Cys4939Gly) | 667 | DST | Uncertain significance | -1 | RCV001986697; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420464 | 56420464 | | | 56420464 | - | | |
NM_001374736.1(DST):c.14800C>A (p.Gln4934Lys) | 667 | DST | Uncertain significance | rs199936602 | RCV001241612|RCV002411889; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56420479 | 56420479 | | | 6:g.56420479G>T | - | | |
NM_001374736.1(DST):c.14772G>A (p.Val4924=) | 667 | DST | Likely benign | -1 | RCV001409186; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420507 | 56420507 | | | 56420507 | - | | |
NM_001374736.1(DST):c.14763G>A (p.Leu4921_Ala4922=) | 667 | DST | Uncertain significance | -1 | RCV002675745; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420516 | 56420516 | | | NC_000006.11:g.56420516C>T | - | | |
NM_001374736.1(DST):c.14742T>C (p.Arg4914_Gly4915=) | 667 | DST | Uncertain significance | -1 | RCV003083938; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420537 | 56420537 | | | NC_000006.11:g.56420537A>G | - | | |
NM_001374736.1(DST):c.14741G>A (p.Arg4914His) | 667 | DST | Benign | -1 | RCV001510453|RCV001664908|RCV001655738|RCV001664909; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:6154 | 6 | 56420538 | 56420538 | | | 56420538 | - | | |
NM_001374736.1(DST):c.14735C>T (p.Ser4912Phe) | 667 | DST | Uncertain significance | -1 | RCV002025755; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420544 | 56420544 | | | 56420544 | - | | |
NM_001374736.1(DST):c.14731C>A (p.Pro4911Thr) | 667 | DST | Uncertain significance | rs201412680 | RCV001324123|RCV001332914|RCV001508546|RCV002438741; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 6 | 56420548 | 56420548 | | | 56420548 | - | | |
NM_001374736.1(DST):c.14726A>G (p.Glu4909Gly) | 667 | DST | Uncertain significance | -1 | RCV001895320; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420553 | 56420553 | | | 56420553 | - | | |
NM_001374736.1(DST):c.14725G>A (p.Glu4909Lys) | 667 | DST | Uncertain significance | -1 | RCV001967637; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420554 | 56420554 | | | 56420554 | - | | |
NM_001374736.1(DST):c.14718G>A (p.Arg4906=) | 667 | DST | Likely benign | -1 | RCV001416915; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420561 | 56420561 | | | 56420561 | - | | |
NM_001374736.1(DST):c.14709T>A (p.Ile4903=) | 667 | DST | Likely benign | -1 | RCV001414085; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420570 | 56420570 | | | 56420570 | - | | |
NM_001374736.1(DST):c.14688G>A (p.Leu4896=) | 667 | DST | Likely benign | -1 | RCV001429271; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420591 | 56420591 | | | 56420591 | - | | |
NM_001374736.1(DST):c.14686C>T (p.Leu4896=) | 667 | DST | Likely benign | -1 | RCV001506000; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420593 | 56420593 | | | 56420593 | - | | |
NM_001374736.1(DST):c.14675A>G (p.Gln4892Arg) | 667 | DST | Uncertain significance | -1 | RCV002033419; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420604 | 56420604 | | | 56420604 | - | | |
NM_001374736.1(DST):c.14661C>T (p.Ala4887=) | 667 | DST | Likely benign | -1 | RCV001479222; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420618 | 56420618 | | | 56420618 | - | | |
NM_001374736.1(DST):c.14655A>G (p.Glu4885=) | 667 | DST | Likely benign | -1 | RCV001396875; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420624 | 56420624 | | | 56420624 | - | | |
NM_001374736.1(DST):c.14650C>G (p.Gln4884Glu) | 667 | DST | Uncertain significance | -1 | RCV002430287|RCV003099895; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420629 | 56420629 | | | 56420629 | - | | |
NM_001374736.1(DST):c.14646G>A (p.Leu4882=) | 667 | DST | Likely benign | -1 | RCV001437872; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420633 | 56420633 | | | 56420633 | - | | |
NM_001374736.1(DST):c.14641-4T>G | 667 | DST | Likely benign | -1 | RCV001398506; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420642 | 56420642 | | | 56420642 | - | | |
NM_001374736.1(DST):c.14641-4T>C | 667 | DST | Likely benign | -1 | RCV001436024; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420642 | 56420642 | | | 56420642 | - | | |
NM_001374736.1(DST):c.14641-5del | 667 | DST | Uncertain significance | -1 | RCV003081948; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420643 | 56420643 | | | NC_000006.11:g.56420644del | - | | |
NM_001374736.1(DST):c.14640+19C>T | 667 | DST | Likely benign | -1 | RCV002137845; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56422098 | 56422098 | | | 56422098 | - | | |
NM_001374736.1(DST):c.14640+8T>G | 667 | DST | Likely benign | -1 | RCV002124131; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56422109 | 56422109 | | | 56422109 | - | | |
NM_001374736.1(DST):c.14640+5G>A | 667 | DST | Uncertain significance | rs2097441805 | RCV001243499; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56422112 | 56422112 | | | 6:g.56422112C>T | - | | |
NM_001374736.1(DST):c.14637G>A (p.Val4879=) | 667 | DST | Uncertain significance | rs765614214 | RCV001303200; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56422120 | 56422120 | | | 56422120 | - | | |
NM_001374736.1(DST):c.14636T>G (p.Val4879Gly) | 667 | DST | Uncertain significance | rs2097442163 | RCV001316549; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56422121 | 56422121 | | | 56422121 | - | | |
NM_001374736.1(DST):c.14601T>A (p.Ile4867=) | 667 | DST | Uncertain significance | -1 | RCV001893559; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56422156 | 56422156 | | | 56422156 | - | | |
NM_001374736.1(DST):c.14592C>T (p.Pro4864=) | 667 | DST | Likely benign | -1 | RCV001457665; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56422165 | 56422165 | | | 56422165 | - | | |
NM_001374736.1(DST):c.14574G>A (p.Met4858Ile) | 667 | DST | Uncertain significance | -1 | RCV001934503; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56422183 | 56422183 | | | 56422183 | - | | |
NM_001374736.1(DST):c.14573T>C (p.Met4858Thr) | 667 | DST | Uncertain significance | -1 | RCV001508547|RCV002567992; | N | MedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56422184 | 56422184 | | | 56422184 | - | | |
NM_001374736.1(DST):c.14542T>C (p.Leu4848=) | 667 | DST | Likely benign | -1 | RCV001462729; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56422215 | 56422215 | | | 56422215 | - | | |
NM_001374736.1(DST):c.14541A>G (p.Gln4847=) | 667 | DST | Benign | -1 | RCV001514397|RCV001655749; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56422216 | 56422216 | | | 56422216 | - | | |
NM_001374736.1(DST):c.14532A>G (p.Val4844=) | 667 | DST | Likely benign | -1 | RCV002156006; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56422225 | 56422225 | | | 56422225 | - | | |
NM_001374736.1(DST):c.14530G>A (p.Val4844Ile) | 667 | DST | Uncertain significance | -1 | RCV001939733|RCV002425209; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56422227 | 56422227 | | | 56422227 | - | | |
NM_001374736.1(DST):c.14523C>T (p.Phe4841_Gln4842=) | 667 | DST | Uncertain significance | -1 | RCV002830059; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56422234 | 56422234 | | | NC_000006.11:g.56422234G>A | - | | |
NM_001374736.1(DST):c.14515A>G (p.Thr4839Ala) | 667 | DST | Uncertain significance | rs371655301 | RCV001239102|RCV002418818; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56422242 | 56422242 | | | 6:g.56422242T>C | - | | |
NM_001374736.1(DST):c.14510A>G (p.Asn4837Ser) | 667 | DST | Uncertain significance | rs1202507145 | RCV001246395; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56422247 | 56422247 | | | 6:g.56422247T>C | - | | |
NM_001374736.1(DST):c.14505C>T (p.Ser4835=) | 667 | DST | Likely benign | -1 | RCV002178404; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56422252 | 56422252 | | | 56422252 | - | | |
NM_001374736.1(DST):c.14501C>A (p.Ser4834Tyr) | 667 | DST | Uncertain significance | rs1290750029 | RCV001248531|RCV002418856; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56422256 | 56422256 | | | 6:g.56422256G>T | - | | |
NM_001374736.1(DST):c.14495A>G (p.Glu4832Gly) | 667 | DST | Conflicting interpretations of pathogenicity | rs201437391 | RCV000998633|RCV001452152|RCV002416283; | N | MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56422262 | 56422262 | | | 6:g.56422262T>C | - | | |
NM_001374736.1(DST):c.14474T>C (p.Ile4825Thr) | 667 | DST | Uncertain significance | -1 | RCV002585254; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56422283 | 56422283 | | | NC_000006.11:g.56422283A>G | - | | |
NM_001374736.1(DST):c.14461A>C (p.Asn4821His) | 667 | DST | Benign/Likely benign | rs139089184 | RCV000982198|RCV002416259; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56422296 | 56422296 | | | 6:g.56422296T>G | - | | |
NM_001374736.1(DST):c.14452C>G (p.Gln4818Glu) | 667 | DST | Uncertain significance | -1 | RCV002015749; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56422305 | 56422305 | | | 56422305 | - | | |
NM_001374736.1(DST):c.14441-7_14441-6del | 667 | DST | Conflicting interpretations of pathogenicity | -1 | RCV001410504|RCV002420918; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56422322 | 56422323 | | | 56422321 | - | | |
NM_001374736.1(DST):c.14441-7C>T | 667 | DST | Likely benign | -1 | RCV001493169|RCV001815567; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56422323 | 56422323 | | | 56422323 | - | | |
NM_001374736.1(DST):c.14441-7del | 667 | DST | Benign/Likely benign | -1 | RCV001510457|RCV001732194; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56422323 | 56422323 | | | 56422322 | - | | |
NM_001374736.1(DST):c.14441-10T>C | 667 | DST | Likely benign | -1 | RCV001431544; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56422326 | 56422326 | | | 56422326 | - | | |
NM_001374736.1(DST):c.14440+15T>G | 667 | DST | Likely benign | -1 | RCV002194388; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56425077 | 56425077 | | | 56425077 | - | | |
NM_001374736.1(DST):c.14440+11T>C | 667 | DST | Likely benign | -1 | RCV003084224; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56425081 | 56425081 | | | NC_000006.11:g.56425081A>G | - | | |
NM_001374736.1(DST):c.14440+10G>A | 667 | DST | Likely benign | rs375501871 | RCV000979880; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56425082 | 56425082 | | | 6:g.56425082C>T | - | | |
NM_001374736.1(DST):c.14440+9C>T | 667 | DST | Likely benign | -1 | RCV001483485; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56425083 | 56425083 | | | 56425083 | - | | |
NM_001374736.1(DST):c.14440+8G>A | 667 | DST | Likely benign | -1 | RCV001457073; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56425084 | 56425084 | | | 56425084 | - | | |
NM_001374736.1(DST):c.14440G>A (p.Asp4814Asn) | 667 | DST | Likely benign | -1 | RCV001501061|RCV002421144; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56425092 | 56425092 | | | 56425092 | - | | |
NM_001374736.1(DST):c.14439A>G (p.Ile4813Met) | 667 | DST | Uncertain significance | rs373340565 | RCV000817186; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56425093 | 56425093 | | | 6:g.56425093T>C | - | | |
NM_001374736.1(DST):c.14434G>C (p.Glu4812Gln) | 667 | DST | Uncertain significance | rs779944990 | RCV001346120; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56425098 | 56425098 | | | 56425098 | - | | |
NM_001374736.1(DST):c.14424G>T (p.Gln4808His) | 667 | DST | Uncertain significance | -1 | RCV001365668; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56425108 | 56425108 | | | 56425108 | - | | |
NM_001374736.1(DST):c.14418G>C (p.Trp4806Cys) | 667 | DST | Uncertain significance | rs2097517609 | RCV001296252; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56425114 | 56425114 | | | 56425114 | - | | |
NM_001374736.1(DST):c.14415A>T (p.Arg4805Ser) | 667 | DST | Uncertain significance | -1 | RCV001991441; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56425117 | 56425117 | | | 56425117 | - | | |
NM_001374736.1(DST):c.14412C>T (p.Pro4804=) | 667 | DST | Likely benign | -1 | RCV001393430; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56425120 | 56425120 | | | 56425120 | - | | |
NM_001374736.1(DST):c.14410C>T (p.Pro4804Ser) | 667 | DST | Uncertain significance | rs368820405 | RCV000823210; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56425122 | 56425122 | | | 6:g.56425122G>A | - | | |
NM_001374736.1(DST):c.14407G>A (p.Ala4803Thr) | 667 | DST | Uncertain significance | rs773639256 | RCV001246127|RCV002411906; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56425125 | 56425125 | | | 6:g.56425125C>T | - | | |
NM_001374736.1(DST):c.14399C>A (p.Thr4800Asn) | 667 | DST | Uncertain significance | -1 | RCV001899169|RCV002407045; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56425133 | 56425133 | | | 56425133 | - | | |
NM_001374736.1(DST):c.14392C>T (p.Pro4798Ser) | 667 | DST | Uncertain significance | rs372505269 | RCV001243295|RCV002418837; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56425140 | 56425140 | | | 6:g.56425140G>A | - | | |
NM_001374736.1(DST):c.14381T>C (p.Leu4794Ser) | 667 | DST | Uncertain significance | rs2097518193 | RCV001246198; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56425151 | 56425151 | | | 6:g.56425151A>G | - | | |
NM_001374736.1(DST):c.14375A>C (p.Glu4792Ala) | 667 | DST | Uncertain significance | -1 | RCV001989201; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56425157 | 56425157 | | | 56425157 | - | | |
NM_001374736.1(DST):c.14367A>G (p.Lys4789=) | 667 | DST | Likely benign | -1 | RCV002130531; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56425165 | 56425165 | | | 56425165 | - | | |
NM_001374736.1(DST):c.14360A>C (p.Lys4787Thr) | 667 | DST | Uncertain significance | -1 | RCV001907388; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56425172 | 56425172 | | | 56425172 | - | | |
NM_001374736.1(DST):c.14346A>C (p.Lys4782Asn) | 667 | DST | Uncertain significance | -1 | RCV001997520; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56425186 | 56425186 | | | 56425186 | - | | |
NM_001374736.1(DST):c.14336A>G (p.Asn4779Ser) | 667 | DST | Uncertain significance | -1 | RCV002839210; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56425196 | 56425196 | | | NC_000006.11:g.56425196T>C | - | | |
NM_001374736.1(DST):c.14328G>A (p.Leu4776=) | 667 | DST | Likely benign | -1 | RCV001405654; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56425204 | 56425204 | | | 56425204 | - | | |
NM_001374736.1(DST):c.14313G>A (p.Ser4771_Phe4772=) | 667 | DST | Benign | rs113998459 | RCV000981882; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56425219 | 56425219 | | | 6:g.56425219C>T | - | | |
NM_001374736.1(DST):c.14312C>T (p.Ser4771Leu) | 667 | DST | Benign/Likely benign | rs62619760 | RCV000979029|RCV002285433; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56425220 | 56425220 | | | 6:g.56425220G>A | - | | |
NM_001374736.1(DST):c.14311-6T>G | 667 | DST | Benign/Likely benign | -1 | RCV002416869|RCV003099799; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56425227 | 56425227 | | | 56425227 | - | | |
NM_001374736.1(DST):c.14311-19A>G | 667 | DST | Benign | -1 | RCV002106632; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56425240 | 56425240 | | | 56425240 | - | | |
NM_001374736.1(DST):c.14311-20T>G | 667 | DST | Likely benign | -1 | RCV002096594; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56425241 | 56425241 | | | 56425241 | - | | |
NM_001374736.1(DST):c.14310+19C>T | 667 | DST | Likely benign | -1 | RCV002109156; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426087 | 56426087 | | | 56426087 | - | | |
NM_001374736.1(DST):c.14301G>A (p.Glu4767_Gln4768=) | 667 | DST | Uncertain significance | -1 | RCV003081454; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426115 | 56426115 | | | NC_000006.11:g.56426115C>T | - | | |
NM_001374736.1(DST):c.14297T>C (p.Val4766Ala) | 667 | DST | Uncertain significance | rs368555516 | RCV001299272; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426119 | 56426119 | | | 56426119 | - | | |
NM_001374736.1(DST):c.14291C>T (p.Thr4764Ile) | 667 | DST | Uncertain significance | rs1664409134 | RCV001239590; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426125 | 56426125 | | | 6:g.56426125G>A | - | | |
NM_001374736.1(DST):c.14274T>C (p.Asp4758=) | 667 | DST | Likely benign | -1 | RCV001505472; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426142 | 56426142 | | | 56426142 | - | | |
NM_001374736.1(DST):c.14265A>G (p.Ala4755_Pro4756=) | 667 | DST | Uncertain significance | -1 | RCV002588787; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426151 | 56426151 | | | NC_000006.11:g.56426151T>C | - | | |
NM_001374736.1(DST):c.14264C>G (p.Ala4755Gly) | 667 | DST | Uncertain significance | -1 | RCV001891626; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426152 | 56426152 | | | 56426152 | - | | |
NM_001374736.1(DST):c.14260C>G (p.Pro4754Ala) | 667 | DST | Uncertain significance | rs188631490 | RCV001246064|RCV001508548; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56426156 | 56426156 | | | 6:g.56426156G>C | - | | |
NM_001374736.1(DST):c.14252A>G (p.Gln4751Arg) | 667 | DST | Uncertain significance | -1 | RCV001970280; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426164 | 56426164 | | | 56426164 | - | | |
NM_001374736.1(DST):c.14245A>G (p.Lys4749Glu) | 667 | DST | Uncertain significance | -1 | RCV002609491; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426171 | 56426171 | | | NC_000006.11:g.56426171T>C | - | | |
NM_001374736.1(DST):c.14234A>G (p.Lys4745Arg) | 667 | DST | Uncertain significance | -1 | RCV001365516|RCV002413872; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56426182 | 56426182 | | | 56426182 | - | | |
NM_001374736.1(DST):c.14224A>G (p.Lys4742Glu) | 667 | DST | Uncertain significance | -1 | RCV001954872|RCV002407092; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56426192 | 56426192 | | | 56426192 | - | | |
NM_001374736.1(DST):c.14217G>A (p.Trp4739Ter) | 667 | DST | Pathogenic | rs2097534211 | RCV001248338; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426199 | 56426199 | | | 6:g.56426199C>T | - | | |
NM_001374736.1(DST):c.14207T>C (p.Met4736Thr) | 667 | DST | Uncertain significance | -1 | RCV001364781; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426209 | 56426209 | | | 56426209 | - | | |
NM_001374736.1(DST):c.14193A>G (p.Glu4731=) | 667 | DST | Likely benign | -1 | RCV002097800; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426223 | 56426223 | | | 56426223 | - | | |
NM_001374736.1(DST):c.14181A>G (p.Gln4727=) | 667 | DST | Uncertain significance | rs2097534567 | RCV001246272; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426235 | 56426235 | | | 6:g.56426235T>C | - | | |
NM_001374736.1(DST):c.14180A>G (p.Gln4727Arg) | 667 | DST | Uncertain significance | rs1235195966 | RCV001248530|RCV002411915; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56426236 | 56426236 | | | 6:g.56426236T>C | - | | |
NM_001374736.1(DST):c.14174A>G (p.Lys4725Arg) | 667 | DST | Benign | rs78484087 | RCV000979005|RCV001615088; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56426242 | 56426242 | | | 6:g.56426242T>C | - | | |
NM_001374736.1(DST):c.14170T>C (p.Ser4724Pro) | 667 | DST | Benign | rs148547958 | RCV000979587; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426246 | 56426246 | | | 6:g.56426246A>G | - | | |
NM_001374736.1(DST):c.14162C>T (p.Thr4721Ile) | 667 | DST | Uncertain significance | rs1562806934 | RCV001349667; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426254 | 56426254 | | | 56426254 | - | | |
NM_001374736.1(DST):c.14151G>A (p.Ala4717_Glu4718=) | 667 | DST | Benign/Likely benign | rs78882406 | RCV000979038|RCV002225770; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56426265 | 56426265 | | | 6:g.56426265C>T | - | | |
NM_001374736.1(DST):c.14150C>T (p.Ala4717Val) | 667 | DST | Uncertain significance | rs181741923 | RCV001508549|RCV001242695; | N | MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426266 | 56426266 | | | 6:g.56426266G>A | - | | |
NM_001374736.1(DST):c.14144A>G (p.Lys4715Arg) | 667 | DST | Uncertain significance | rs199706428 | RCV001245505; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426272 | 56426272 | | | 6:g.56426272T>C | - | | |
NM_001374736.1(DST):c.14140G>A (p.Asp4714Asn) | 667 | DST | Uncertain significance | rs777868479 | RCV001242624; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426276 | 56426276 | | | 6:g.56426276C>T | - | | |
NM_001374736.1(DST):c.14134C>T (p.Leu4712Phe) | 667 | DST | Uncertain significance | rs376647921 | RCV001312571; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426282 | 56426282 | | | 56426282 | - | | |
NM_001374736.1(DST):c.14130C>T (p.Leu4710=) | 667 | DST | Likely benign | -1 | RCV001466847; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426286 | 56426286 | | | 56426286 | - | | |
NM_001374736.1(DST):c.14108A>G (p.His4703Arg) | 667 | DST | Uncertain significance | rs772369999 | RCV001241197; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426308 | 56426308 | | | 6:g.56426308T>C | - | | |
NM_001374736.1(DST):c.14094G>T (p.Met4698Ile) | 667 | DST | Likely benign | -1 | RCV001496383; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426322 | 56426322 | | | 56426322 | - | | |
NM_001374736.1(DST):c.14092A>T (p.Met4698Leu) | 667 | DST | Uncertain significance | -1 | RCV002400749|RCV003099728; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426324 | 56426324 | | | 56426324 | - | | |
NM_001374736.1(DST):c.14069-5C>T | 667 | DST | Likely benign | -1 | RCV002175061; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426352 | 56426352 | | | 56426352 | - | | |
NM_001374736.1(DST):c.14069-12T>C | 667 | DST | Likely benign | -1 | RCV002043288; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426359 | 56426359 | | | 56426359 | - | | |
NM_001374736.1(DST):c.14069-16T>G | 667 | DST | Benign | -1 | RCV002117973; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426363 | 56426363 | | | 56426363 | - | | |
NM_001374736.1(DST):c.14068+5G>A | 667 | DST | Benign | rs9367689 | RCV000613030|RCV001510450|RCV001613403|RCV001662664|RCV001700175; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:6154 | 6 | 56426931 | 56426931 | | | NC_000006.11:g.56426931C>T | ClinGen:CA3868108 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | |
NM_001374736.1(DST):c.14064T>C (p.Asn4688=) | 667 | DST | Uncertain significance | rs1377086977 | RCV000797972; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426940 | 56426940 | | | 6:g.56426940A>G | - | | |
NM_001374736.1(DST):c.14057G>A (p.Trp4686Ter) | 667 | DST | Pathogenic | rs2097544341 | RCV001248266; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426947 | 56426947 | | | 6:g.56426947C>T | - | | |
NM_001374736.1(DST):c.14052A>G (p.Glu4684=) | 667 | DST | Likely benign | -1 | RCV001405634; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426952 | 56426952 | | | 56426952 | - | | |
NM_001374736.1(DST):c.14035G>C (p.Ala4679Pro) | 667 | DST | Uncertain significance | rs775166216 | RCV001246731; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426969 | 56426969 | | | 6:g.56426969C>G | - | | |
NM_001374736.1(DST):c.14033C>T (p.Thr4678Ile) | 667 | DST | Uncertain significance | rs1382596937 | RCV001322514|RCV002402898; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56426971 | 56426971 | | | 56426971 | - | | |
NM_001374736.1(DST):c.14024G>A (p.Gly4675Asp) | 667 | DST | Uncertain significance | -1 | RCV001365847; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426980 | 56426980 | | | 56426980 | - | | |
NM_001374736.1(DST):c.14024G>T (p.Gly4675Val) | 667 | DST | Uncertain significance | -1 | RCV001952666|RCV002305636; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56426980 | 56426980 | | | 56426980 | - | | |
NM_001374736.1(DST):c.14006-6T>C | 667 | DST | Benign | -1 | RCV001514390|RCV001709712; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56427004 | 56427004 | | | 56427004 | - | | |
NM_001374736.1(DST):c.14006-16G>A | 667 | DST | Uncertain significance | -1 | RCV002820536; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56427014 | 56427014 | | | NC_000006.11:g.56427014C>T | - | | |
NM_001374736.1(DST):c.14006-18G>A | 667 | DST | Uncertain significance | -1 | RCV003088219; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56427016 | 56427016 | | | NC_000006.11:g.56427016C>T | - | | |
NM_001374736.1(DST):c.14005+6A>T | 667 | DST | Uncertain significance | rs377182814 | RCV001243167|RCV002393631; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56433261 | 56433261 | | | 6:g.56433261T>A | - | | |
NM_001374736.1(DST):c.13990G>A (p.Ala4664Thr) | 667 | DST | Uncertain significance | -1 | RCV002575561; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56433282 | 56433282 | | | NC_000006.11:g.56433282C>T | - | | |
NM_001374736.1(DST):c.13970C>G (p.Thr4657Ser) | 667 | DST | Uncertain significance | rs528578142 | RCV001245918|RCV002393652; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56433302 | 56433302 | | | 6:g.56433302G>C | - | | |
NM_001374736.1(DST):c.13963G>T (p.Ala4655Ser) | 667 | DST | Uncertain significance | rs370851951 | RCV001347125; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56433309 | 56433309 | | | 56433309 | - | | |
NM_001374736.1(DST):c.13957A>G (p.Ile4653Val) | 667 | DST | Uncertain significance | -1 | RCV003081451; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56433315 | 56433315 | | | NC_000006.11:g.56433315T>C | - | | |
NM_001374736.1(DST):c.13956A>C (p.Leu4652Phe) | 667 | DST | Uncertain significance | -1 | RCV002394177|RCV003099693; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56433316 | 56433316 | | | 56433316 | - | | |
NM_001374736.1(DST):c.13947A>G (p.Leu4649=) | 667 | DST | Likely benign | -1 | RCV002176699; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56433325 | 56433325 | | | 56433325 | - | | |
NM_001374736.1(DST):c.13934G>A (p.Ser4645Asn) | 667 | DST | Uncertain significance | rs748268169 | RCV001244609; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56433338 | 56433338 | | | 6:g.56433338C>T | - | | |
NM_001374736.1(DST):c.13933A>G (p.Ser4645Gly) | 667 | DST | Uncertain significance | -1 | RCV002899896; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56433339 | 56433339 | | | NC_000006.11:g.56433339T>C | - | | |
NM_001374736.1(DST):c.13929C>T (p.Asn4643=) | 667 | DST | Likely benign | -1 | RCV002178579; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56433343 | 56433343 | | | 56433343 | - | | |
NM_001374736.1(DST):c.13928A>T (p.Asn4643Ile) | 667 | DST | Uncertain significance | rs147895709 | RCV001319626|RCV002395694; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56433344 | 56433344 | | | 56433344 | - | | |
NM_001374736.1(DST):c.13912G>C (p.Glu4638Gln) | 667 | DST | Uncertain significance | rs377669664 | RCV001241869; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56433360 | 56433360 | | | 6:g.56433360C>G | - | | |
NM_001374736.1(DST):c.13909C>G (p.Pro4637Ala) | 667 | DST | Uncertain significance | -1 | RCV002620748; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56433363 | 56433363 | | | NC_000006.11:g.56433363G>C | - | | |
NM_001374736.1(DST):c.13905A>C (p.Lys4635Asn) | 667 | DST | Uncertain significance | -1 | RCV001913265; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56433367 | 56433367 | | | 56433367 | - | | |
NM_001374736.1(DST):c.13902A>T (p.Leu4634Phe) | 667 | DST | Uncertain significance | -1 | RCV001367027; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56433370 | 56433370 | | | 56433370 | - | | |
NM_001374736.1(DST):c.13885C>A (p.Gln4629Lys) | 667 | DST | Uncertain significance | rs1207366191 | RCV001246270|RCV002393654; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56433387 | 56433387 | | | 6:g.56433387G>T | - | | |
NM_001374736.1(DST):c.13882T>C (p.Leu4628_Gln4629=) | 667 | DST | Uncertain significance | -1 | RCV002871103; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56433390 | 56433390 | | | NC_000006.11:g.56433390A>G | - | | |
NM_001374736.1(DST):c.13879-16_13879-15del | 667 | DST | Uncertain significance | -1 | RCV002623136; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56433408 | 56433409 | | | NC_000006.11:g.56433409CA[1] | - | | |
NM_001374736.1(DST):c.13878+8A>G | 667 | DST | Likely benign | -1 | RCV001413217; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56434646 | 56434646 | | | 56434646 | - | | |
NM_001374736.1(DST):c.13856G>A (p.Gly4619Glu) | 667 | DST | Uncertain significance | -1 | RCV002391584|RCV003099656; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56434676 | 56434676 | | | 56434676 | - | | |
NM_001374736.1(DST):c.13825G>A (p.Val4609Ile) | 667 | DST | Uncertain significance | -1 | RCV001954757; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56434707 | 56434707 | | | 56434707 | - | | |
NM_001374736.1(DST):c.13820C>A (p.Pro4607His) | 667 | DST | Benign/Likely benign | rs138967674 | RCV000979003|RCV001732002|RCV002391024; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 6 | 56434712 | 56434712 | | | 6:g.56434712G>T | - | | |
NM_001374736.1(DST):c.13813A>G (p.Lys4605Glu) | 667 | DST | Uncertain significance | rs113849115 | RCV001241062|RCV002379922; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56434719 | 56434719 | | | 6:g.56434719T>C | - | | |
NM_001374736.1(DST):c.13810A>G (p.Lys4604Glu) | 667 | DST | Uncertain significance | -1 | RCV002791489; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56434722 | 56434722 | | | NC_000006.11:g.56434722T>C | - | | |
NM_001374736.1(DST):c.13807A>G (p.Thr4603Ala) | 667 | DST | Uncertain significance | rs2097755652 | RCV001247573; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56434725 | 56434725 | | | 6:g.56434725T>C | - | | |
NM_001374736.1(DST):c.13801G>A (p.Glu4601Lys) | 667 | DST | Uncertain significance | -1 | RCV001913040|RCV002386695; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56434731 | 56434731 | | | 56434731 | - | | |
NM_001374736.1(DST):c.13757A>C (p.Asp4586Ala) | 667 | DST | Uncertain significance | -1 | RCV001988133; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56434775 | 56434775 | | | 56434775 | - | | |
NM_001374736.1(DST):c.13736C>T (p.Thr4579Ile) | 667 | DST | Uncertain significance | rs2097756144 | RCV001241810; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56434796 | 56434796 | | | 6:g.56434796G>A | - | | |
NM_001374736.1(DST):c.13724AAG[1] (p.Glu4576del) | 667 | DST | Uncertain significance | rs2097756169 | RCV001352131; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56434803 | 56434805 | | | 56434802 | - | | |
NM_001374736.1(DST):c.13722-4G>A | 667 | DST | Benign | -1 | RCV001510526; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56434814 | 56434814 | | | 56434814 | - | | |
NM_001374736.1(DST):c.13722-5T>C | 667 | DST | Likely benign | -1 | RCV001483482; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56434815 | 56434815 | | | 56434815 | - | | |
NM_001374736.1(DST):c.13721+13T>G | 667 | DST | Likely benign | -1 | RCV002088557; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56436885 | 56436885 | | | 56436885 | - | | |
NM_001374736.1(DST):c.13721+2dup | 667 | DST | Uncertain significance | -1 | RCV001933258; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56436895 | 56436896 | | | 56436895 | - | | |
NM_001374736.1(DST):c.13711A>G (p.Ile4571Val) | 667 | DST | Uncertain significance | -1 | RCV001926908; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56436908 | 56436908 | | | 56436908 | - | | |
NM_001374736.1(DST):c.13710C>A (p.Thr4570=) | 667 | DST | Likely benign | -1 | RCV002110255; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56436909 | 56436909 | | | 56436909 | - | | |
NM_001374736.1(DST):c.13709C>A (p.Thr4570Asn) | 667 | DST | Uncertain significance | rs1448444120 | RCV001245790; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56436910 | 56436910 | | | 6:g.56436910G>T | - | | |
NM_001374736.1(DST):c.13707_13708insTAATATAAATAGAATAAAATAT (p.Thr4570Ter) | 667 | DST | Pathogenic | -1 | RCV001994464; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56436911 | 56436912 | | | 56436911 | - | | |
NM_001374736.1(DST):c.13705G>A (p.Asp4569Asn) | 667 | DST | Uncertain significance | rs759202844 | RCV001242443|RCV002379931; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56436914 | 56436914 | | | 6:g.56436914C>T | - | | |
NM_001374736.1(DST):c.13701G>A (p.Met4567Ile) | 667 | DST | Uncertain significance | rs1445711960 | RCV000998634|RCV001239864; | N | MedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56436918 | 56436918 | | | 6:g.56436918C>T | - | | |
NM_001374736.1(DST):c.13697A>G (p.Glu4566Gly) | 667 | DST | Uncertain significance | -1 | RCV003092347; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56436922 | 56436922 | | | NC_000006.11:g.56436922T>C | - | | |
NM_001374736.1(DST):c.13676A>G (p.Asn4559Ser) | 667 | DST | Uncertain significance | -1 | RCV001940639; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56436943 | 56436943 | | | 56436943 | - | | |
NM_001374736.1(DST):c.13652C>T (p.Ala4551Val) | 667 | DST | Uncertain significance | -1 | RCV001946332; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56436967 | 56436967 | | | 56436967 | - | | |
NM_001374736.1(DST):c.13631A>G (p.His4544Arg) | 667 | DST | Uncertain significance | rs748806288 | RCV001343786; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56436988 | 56436988 | | | 56436988 | - | | |
NM_001374736.1(DST):c.13630C>T (p.His4544Tyr) | 667 | DST | Uncertain significance | rs1397028886 | RCV001317743; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56436989 | 56436989 | | | 56436989 | - | | |
NM_001374736.1(DST):c.13609C>T (p.Leu4537Phe) | 667 | DST | Uncertain significance | -1 | RCV001909963|RCV002370505; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56437010 | 56437010 | | | 56437010 | - | | |
NM_001374736.1(DST):c.13606A>G (p.Ser4536Gly) | 667 | DST | Uncertain significance | -1 | RCV001985452; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56437013 | 56437013 | | | 56437013 | - | | |
NM_001374736.1(DST):c.13598T>C (p.Val4533Ala) | 667 | DST | Benign/Likely benign | -1 | RCV001514396|RCV001776241; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56437021 | 56437021 | | | 56437021 | - | | |
NM_001374736.1(DST):c.13592T>C (p.Leu4531Pro) | 667 | DST | Uncertain significance | rs760912540 | RCV000794796; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56437027 | 56437027 | | | 6:g.56437027A>G | - | | |
NM_001374736.1(DST):c.13592T>A (p.Leu4531His) | 667 | DST | Uncertain significance | -1 | RCV002583036; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56437027 | 56437027 | | | NC_000006.11:g.56437027A>T | - | | |
NM_001374736.1(DST):c.13591C>G (p.Leu4531Val) | 667 | DST | Uncertain significance | rs996209535 | RCV001305536|RCV002375373; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123 | 6 | 56437028 | 56437028 | | | 56437028 | - | | |
NM_001374736.1(DST):c.13581C>T (p.His4527=) | 667 | DST | Likely benign | -1 | RCV001487875; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56437038 | 56437038 | | | 56437038 | - | | |
NM_001374736.1(DST):c.13568A>G (p.Glu4523Gly) | 667 | DST | Uncertain significance | -1 | RCV002031449; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56437051 | 56437051 | | | 56437051 | - | | |
NM_001374736.1(DST):c.13565C>A (p.Ser4522Tyr) | 667 | DST | Uncertain significance | rs751015571 | RCV001241740|RCV002375279; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123 | 6 | 56437054 | 56437054 | | | 6:g.56437054G>T | - | | |
NM_001374736.1(DST):c.13563T>G (p.Thr4521_Ser4522=) | 667 | DST | Uncertain significance | -1 | RCV002610607; | N | MONDO:MONDO:0013839,M |