MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Hereditary Sensory and Autonomic Neuropathies (D009477)
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NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)

       Child Nodes:



 Sister Nodes: 
..expandCATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
..expandCervical hypertrichosis neuropathy (C537956)
..expandDysautonomia, Familial (D004402) Child1
..expandHamanishi Ueba Tsuji syndrome (C535624)
..expandHereditary Sensory and Autonomic Neuropathy Type Ie (C580162)
..expandNeuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia (C563870)
..expandNeuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux (C564296)
..expandNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
..expandNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
..expandNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
..expandNeuropathy, Hereditary Sensory And Autonomic, Type IIB (C567738)
..expandNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
..expandNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII (OMIM:615548)
..expandNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII (OMIM:616488)
..expandNEUROPATHY, HEREDITARY SENSORY, TYPE ID (OMIM:613708)
..expandNEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)
..expandNEUROPATHY, HEREDITARY SENSORY, TYPE IF (OMIM:615632)
..expandNEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
..expandNeuropathy, Hereditary Sensory, X-Linked (C564090)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8853
Name:NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
Definition:
Alternative IDs:DO:DOID:0070151
ParentIDs:MESH:D009477
TreeNumbers:C10.500.250/614653 |C10.574.500.493/614653 |C10.668.829.800.175/614653 |C16.131.666.310/614653 |C16.320.400.415/614653
Synonyms:HSAN6 |HSAN VI
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Nervous system disease
Reference: MedGen: 614653
MeSH: 614653
OMIM: 614653;
MSeqDR LSDB:  
Genes: DST;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000522Alacrima
3 HP:0002104Apnea
4 HP:0001284Areflexia
5 HP:0007610Blotching pigmentation of the skin
6 HP:0001662Bradycardia
7 HP:0000559Corneal scarring
8 HP:0011968Feeding difficulties
9 HP:0001945Fever
10 HP:0001371Flexion contracture
11 HP:0001510Growth delay
NAMDC:  Growth delay
12 HP:0001188Hand clenching
13 HP:0000218High palateHP:0040283
14 HP:0000975Hyperhidrosis
15 HP:0003093Limited hip extension
16 HP:0000369Low-set earsHP:0040283
17 HP:0001319Neonatal hypotonia
NAMDC:  Floppy baby
18 HP:0000194Open mouth
19 HP:0002093Respiratory insufficiency
20 HP:0000763Sensory neuropathy
21 HP:0000331Short chinHP:0040283
22 HP:0001649Tachycardia
23 HP:0001762Talipes equinovarus
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000006.11:g.(?_56323793)_(56507596_?)dup667DSTUncertain significance-1RCV000809299; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632379356507596nana-
NC_000006.12:g.(?_56458995)_(56642798_?)del667DSTPathogenic-1RCV001033643; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632379356507596nana-1-
NM_001374736.1(DST):c.23438del (p.Asp7813fs)667DSTUncertain significance-1RCV001367378; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632382256323822GTG56323821-
NM_001374736.1(DST):c.23437G>A (p.Asp7813Asn)667DSTUncertain significancers956139209RCV001247638; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632382356323823CT6:g.56323823C>T-
NM_001374736.1(DST):c.23435T>G (p.Leu7812Trp)667DSTUncertain significance-1RCV001367243; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632382556323825AC56323825-
NM_001374736.1(DST):c.23433A>G (p.Lys7811=)667DSTLikely benign-1RCV001474737; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632382756323827TC56323827-
NM_001374736.1(DST):c.23432A>G (p.Lys7811Arg)667DSTUncertain significancers201891015RCV001242561; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632382856323828TC6:g.56323828T>C-
NM_001374736.1(DST):c.23425G>C (p.Ala7809Pro)667DSTUncertain significance-1RCV001955668; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632383556323835CG56323835-
NM_001374736.1(DST):c.23415G>A (p.Arg7805=)667DSTLikely benign-1RCV001490249; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632384556323845CT56323845-
NM_001374736.1(DST):c.23406G>A (p.Thr7802=)667DSTLikely benign-1RCV001411394; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632385456323854CT56323854-
NM_001374736.1(DST):c.23405C>T (p.Thr7802Met)667DSTUncertain significancers367598583RCV001245650; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632385556323855GA6:g.56323855G>A-
NM_001374736.1(DST):c.23402C>T (p.Pro7801Leu)667DSTLikely pathogenicrs1242078669RCV000754750; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632385856323858GANC_000006.11:g.56323858G>A-
NM_001374736.1(DST):c.23385G>A (p.Ala7795=)667DSTLikely benign-1RCV001466797; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632387556323875CT56323875-
NM_001374736.1(DST):c.23361A>G (p.Arg7787=)667DSTLikely benign-1RCV001410536; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632389956323899TC56323899-
NM_001374736.1(DST):c.23360G>A (p.Arg7787Gln)667DSTUncertain significance-1RCV002015617; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632390056323900CT56323900-
NM_001374736.1(DST):c.23334C>G (p.Val7778=)667DSTLikely benign-1RCV001428407; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632392656323926GC56323926-
NM_001374736.1(DST):c.23321A>C (p.Asp7774Ala)667DSTUncertain significance-1RCV001887913; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632393956323939TG56323939-
NM_001374736.1(DST):c.23311G>A (p.Val7771Met)667DSTUncertain significance-1RCV001359472; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632394956323949CT56323949-
NM_001374736.1(DST):c.23310C>T (p.Ser7770=)667DSTLikely benign-1RCV001448604; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632395056323950GA56323950-
NM_001374736.1(DST):c.23264G>A (p.Arg7755His)667DSTUncertain significance-1RCV002004676; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632399656323996CT56323996-
NM_001374736.1(DST):c.23263C>T (p.Arg7755Cys)667DSTUncertain significancers868335418RCV001307740; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632399756323997GA56323997-
NM_001374736.1(DST):c.23250C>T (p.Ser7750=)667DSTLikely benign-1RCV002181469; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632401056324010GA56324010-
NM_001374736.1(DST):c.23234G>A (p.Gly7745Glu)667DSTUncertain significance-1RCV001968665; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632402656324026CT56324026-
NM_001374736.1(DST):c.23228G>A (p.Arg7743Gln)667DSTUncertain significancers762220017RCV001244951|RCV001357327; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN16937465632403256324032CT6:g.56324032C>T-
NM_001374736.1(DST):c.23220A>T (p.Pro7740=)667DSTLikely benign-1RCV001435076; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632404056324040TA56324040-
NM_001374736.1(DST):c.23205G>T (p.Lys7735Asn)667DSTUncertain significancers1476392770RCV001245796; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632405556324055CA6:g.56324055C>A-
NM_001374736.1(DST):c.23201A>T (p.Lys7734Met)667DSTUncertain significancers1168581623RCV001248043; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632405956324059TA6:g.56324059T>A-
NM_001374736.1(DST):c.23195A>T (p.Asp7732Val)667DSTUncertain significancers2094197198RCV001241870; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632406556324065TA6:g.56324065T>A-
NM_001374736.1(DST):c.23195-8T>C667DSTLikely benign-1RCV001419149; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632407356324073AG56324073-
NM_001374736.1(DST):c.23194+19T>A667DSTLikely benign-1RCV002190947; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632491056324910AT56324910-
NM_001374736.1(DST):c.23187G>A (p.Gln7729=)667DSTBenign-1RCV001514458; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632493656324936CT56324936-
NM_001374736.1(DST):c.23183C>T (p.Thr7728Ile)667DSTUncertain significance-1RCV001365782; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632494056324940GA56324940-
NM_001374736.1(DST):c.23173A>G (p.Arg7725Gly)667DSTUncertain significance-1RCV001969614; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632495056324950TC56324950-
NM_001374736.1(DST):c.23141A>C (p.Glu7714Ala)667DSTUncertain significance-1RCV002023189; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632498256324982TG56324982-
NM_001374736.1(DST):c.23094G>A (p.Lys7698=)667DSTLikely benign-1RCV001422114; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632502956325029CT56325029-
NM_001374736.1(DST):c.23093A>G (p.Lys7698Arg)667DSTUncertain significancers2094258869RCV001239928; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632503056325030TC6:g.56325030T>C-
NM_001374736.1(DST):c.23090G>A (p.Ser7697Asn)667DSTUncertain significancers1337269536RCV001347750; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632503356325033CT56325033-
NM_001374736.1(DST):c.23079A>G (p.Pro7693=)667DSTLikely benign-1RCV001418027; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632504456325044TC56325044-
NM_001374736.1(DST):c.23076G>A (p.Thr7692=)667DSTLikely benign-1RCV001490647; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632504756325047CT56325047-
NM_001374736.1(DST):c.23075C>T (p.Thr7692Met)667DSTUncertain significance-1RCV001924304; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632504856325048GA56325048-
NM_001374736.1(DST):c.23071-2A>G667DSTLikely pathogenic-1RCV001976172; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632505456325054TC56325054-
NM_001374736.1(DST):c.23071-18G>A667DSTLikely benign-1RCV002167555; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632507056325070CT56325070-
NM_001374736.1(DST):c.23070+7T>G667DSTLikely benign-1RCV002157630; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632783756327837AC56327837-
NM_001374736.1(DST):c.23065G>A (p.Ala7689Thr)667DSTBenign-1RCV001510452|RCV001664907|RCV001664906; NMONDO: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:412181|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314365632784956327849CT56327849-
NM_001374736.1(DST):c.23061A>T (p.Pro7687=)667DSTLikely benign-1RCV001451925; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632785356327853TA56327853-
NM_001374736.1(DST):c.23058G>A (p.Val7686=)667DSTBenign/Likely benign-1RCV001510454|RCV001732192; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN51720265632785656327856CT56327856-
NM_001374736.1(DST):c.23056G>A (p.Val7686Met)667DSTUncertain significancers774799170RCV000803193; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632785856327858CT6:g.56327858C>T-
NM_001374736.1(DST):c.23055C>T (p.Pro7685=)667DSTLikely benignrs201991278RCV000979603; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632785956327859GA6:g.56327859G>A-
NM_001374736.1(DST):c.23035G>T (p.Ala7679Ser)667DSTConflicting interpretations of pathogenicityrs201138592RCV000578982|RCV000980803; NMedGen:CN169374|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632787956327879CA6:g.56327879C>AClinGen:CA3866063CN169374 not specified;
NM_001374736.1(DST):c.23025T>C (p.Pro7675=)667DSTLikely benign-1RCV002198289; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632788956327889AG56327889-
NM_001374736.1(DST):c.23022T>A (p.Thr7674=)667DSTLikely benign-1RCV001405651; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632789256327892AT56327892-
NM_001374736.1(DST):c.23016G>A (p.Met7672Ile)667DSTUncertain significance-1RCV001924415; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632789856327898CT56327898-
NM_001374736.1(DST):c.23015T>C (p.Met7672Thr)667DSTUncertain significancers751377992RCV001342824; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632789956327899AG56327899-
NM_001374736.1(DST):c.22997G>C (p.Trp7666Ser)667DSTUncertain significancers1035396080RCV001239035; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632791756327917CG6:g.56327917C>G-
NM_001374736.1(DST):c.22993C>G (p.Pro7665Ala)667DSTUncertain significance-1RCV001986538; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632792156327921GC56327921-
NM_001374736.1(DST):c.22987G>T (p.Gly7663Cys)667DSTUncertain significancers1426250382RCV001239804; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632792756327927CA6:g.56327927C>A-
NM_001374736.1(DST):c.22982A>G (p.Asn7661Ser)667DSTUncertain significance-1RCV001992722; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632793256327932TC56327932-
NM_001374736.1(DST):c.22979G>A (p.Arg7660His)667DSTUncertain significancers746310021RCV000822745; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632793556327935CT6:g.56327935C>T-
NM_001374736.1(DST):c.22978C>T (p.Arg7660Cys)667DSTUncertain significance-1RCV001949891; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632793656327936GA56327936-
NM_001374736.1(DST):c.22964T>C (p.Leu7655Pro)667DSTUncertain significancers375019954RCV001248466; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632795056327950AG6:g.56327950A>G-
NM_001374736.1(DST):c.22963C>T (p.Leu7655Phe)667DSTUncertain significance-1RCV001363464; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632795156327951GA56327951-
NM_001374736.1(DST):c.22960-8C>T667DSTLikely benign-1RCV002129484; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632796256327962GA56327962-
NM_001374736.1(DST):c.22959+3A>G667DSTUncertain significancers375303601RCV001239595|RCV001699523; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265632836056328360TC6:g.56328360T>C-
NM_001374736.1(DST):c.22959+1G>A667DSTLikely pathogenicrs2094441686RCV001241867; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632836256328362CT6:g.56328362C>T-
NM_001374736.1(DST):c.22955C>T (p.Pro7652Leu)667DSTUncertain significance-1RCV001371560; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632836756328367GA56328367-
NM_001374736.1(DST):c.22950C>A (p.Thr7650=)667DSTLikely benign-1RCV002085724; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632837256328372GT56328372-
NM_001374736.1(DST):c.22939C>T (p.Pro7647Ser)667DSTUncertain significancers201952309RCV001241383; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632838356328383GA6:g.56328383G>A-
NM_001374736.1(DST):c.22934A>T (p.Gln7645Leu)667DSTUncertain significancers2094442685RCV001339140; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632838856328388TA56328388-
NM_001374736.1(DST):c.22932A>C (p.Pro7644=)667DSTBenignrs374094129RCV000981885; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632839056328390TG6:g.56328390T>G-
NM_001374736.1(DST):c.22922C>T (p.Ala7641Val)667DSTUncertain significancers750916776RCV001299771; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632840056328400GA56328400-
NM_001374736.1(DST):c.22917G>A (p.Ala7639=)667DSTLikely benign-1RCV001435550; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632840556328405CT56328405-
NM_001374736.1(DST):c.22916C>T (p.Ala7639Val)667DSTConflicting interpretations of pathogenicityrs201429821RCV000979588|RCV001081929; NMedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632840656328406GA6:g.56328406G>A-
NM_001374736.1(DST):c.22896T>C (p.Thr7632=)667DSTBenign/Likely benignrs200781365RCV000979093|RCV001699496; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265632842656328426AG6:g.56328426A>G-
NM_001374736.1(DST):c.22893C>T (p.Ser7631=)667DSTLikely benign-1RCV001465132; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632842956328429GA56328429-
NM_001374736.1(DST):c.22886A>G (p.Asn7629Ser)667DSTUncertain significancers1270972086RCV001239513; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632843656328436TC6:g.56328436T>C-
NM_001374736.1(DST):c.22875C>A (p.Gly7625=)667DSTLikely benign-1RCV002150875; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632844756328447GT56328447-
NM_001374736.1(DST):c.22863A>C (p.Pro7621=)667DSTLikely benign-1RCV002111511; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632845956328459TG56328459-
NM_001374736.1(DST):c.22857C>G (p.Ser7619=)667DSTLikely benign-1RCV001431543; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632846556328465GC56328465-
NM_001374736.1(DST):c.22849C>G (p.Arg7617Gly)667DSTUncertain significancers2094446184RCV001301383; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632847356328473GC56328473-
NM_001374736.1(DST):c.22844G>A (p.Arg7615Gln)667DSTUncertain significance-1RCV001369142; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632847856328478CT56328478-
NM_001374736.1(DST):c.22843C>T (p.Arg7615Ter)667DSTPathogenicrs948596983RCV001247773; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632847956328479GA6:g.56328479G>A-
NM_001374736.1(DST):c.22838G>A (p.Arg7613Gln)667DSTUncertain significance-1RCV001988899; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632848456328484CT56328484-
NM_001374736.1(DST):c.22826T>C (p.Met7609Thr)667DSTUncertain significance-1RCV001926393; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632849656328496AG56328496-
NM_001374736.1(DST):c.22822G>T (p.Gly7608Cys)667DSTUncertain significancers753485138RCV001335760|RCV001242889; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632850056328500CA6:g.56328500C>A-
NM_001374736.1(DST):c.22811G>A (p.Gly7604Asp)667DSTUncertain significance-1RCV001947790; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632851156328511CT56328511-
NM_001374736.1(DST):c.22805C>T (p.Ala7602Val)667DSTUncertain significancers375687689RCV001242957; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632851756328517GA6:g.56328517G>A-
NM_001374736.1(DST):c.22798A>G (p.Ile7600Val)667DSTUncertain significance-1RCV001944571; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632852456328524TC56328524-
NM_001374736.1(DST):c.22787G>A (p.Arg7596His)667DSTUncertain significancers746750215RCV001240859; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632853556328535CT6:g.56328535C>T-
NM_001374736.1(DST):c.22786C>T (p.Arg7596Cys)667DSTUncertain significance-1RCV002003242; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632853656328536GA56328536-
NM_001374736.1(DST):c.22764A>G (p.Lys7588=)667DSTLikely benign-1RCV001394181; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632855856328558TC56328558-
NM_001374736.1(DST):c.22720G>T (p.Glu7574Ter)667DSTPathogenic-1RCV001775447; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632952256329522CA56329522-
NM_001374736.1(DST):c.22687+18A>G667DSTLikely benign-1RCV002107758; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633085856330858TC56330858-
NM_001374736.1(DST):c.22687+15A>C667DSTBenign-1RCV002185765; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633086156330861TG56330861-
NC_000006.11:g.56330866-?_56331003+?del667DSTPathogenic-1RCV001390146; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633086656330866nana-1-
NM_001374736.1(DST):c.22642T>A (p.Trp7548Arg)667DSTUncertain significancers2094566911RCV001304824; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633092156330921AT56330921-
NM_001374736.1(DST):c.22601G>A (p.Arg7534Gln)667DSTUncertain significancers1255175152RCV001243300; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633096256330962CT6:g.56330962C>T-
NM_001374736.1(DST):c.22593A>T (p.Arg7531=)667DSTLikely benign-1RCV001488991; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633097056330970TA56330970-
NM_001374736.1(DST):c.22593A>G (p.Arg7531=)667DSTLikely benign-1RCV002115423; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633097056330970TC56330970-
NM_001374736.1(DST):c.22584G>A (p.Gln7528=)667DSTLikely benign-1RCV002196485; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633097956330979CT56330979-
NM_001374736.1(DST):c.22570-4A>G667DSTUncertain significancers199834581RCV000804073; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633099756330997TC6:g.56330997T>C-
NM_001374736.1(DST):c.22570-17C>G667DSTBenign-1RCV002118134; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633101056331010GC56331010-
NM_001374736.1(DST):c.22558C>T (p.Leu7520=)667DSTLikely benign-1RCV002161740; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633379156333791GA56333791-
NM_001374736.1(DST):c.22551+16A>G667DSTLikely benign-1RCV002144748; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633466556334665TC56334665-
NM_001374736.1(DST):c.22551+8T>C667DSTLikely benign-1RCV001470711; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633467356334673AG56334673-
NM_001374736.1(DST):c.22530G>C (p.Gln7510His)667DSTUncertain significancers750236520RCV001242697; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633470256334702CG6:g.56334702C>G-
NM_001374736.1(DST):c.22484G>T (p.Arg7495Met)667DSTUncertain significance-1RCV001933675; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633474856334748CA56334748-
NM_001374736.1(DST):c.22477-14A>G667DSTLikely benign-1RCV002084279; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633476956334769TC56334769-
NM_001374736.1(DST):c.22476+1G>A667DSTLikely pathogenic-1RCV002021742; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633492556334925CT56334925-
NM_001374736.1(DST):c.22470A>G (p.Glu7490=)667DSTLikely benign-1RCV002120260; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633493256334932TC56334932-
NM_001374736.1(DST):c.22467C>T (p.Ile7489=)667DSTLikely benign-1RCV001398630; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633493556334935GA56334935-
NM_001374736.1(DST):c.22458C>T (p.Ala7486=)667DSTLikely benignrs554828969RCV000979884; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633494456334944GA6:g.56334944G>A-
NM_001374736.1(DST):c.22455T>C (p.Asp7485=)667DSTLikely benign-1RCV001440621; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633494756334947AG56334947-
NM_001374736.1(DST):c.22429A>G (p.Lys7477Glu)667DSTUncertain significance-1RCV001989195; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633497356334973TC56334973-
NM_001374736.1(DST):c.22413A>C (p.Ala7471=)667DSTLikely benign-1RCV001490198; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633498956334989TG56334989-
NM_001374736.1(DST):c.22383T>A (p.Asp7461Glu)667DSTUncertain significance-1RCV001892906; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633501956335019AT56335019-
NM_001374736.1(DST):c.22380C>T (p.Gly7460=)667DSTUncertain significance-1RCV001935565; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633502256335022GA56335022-
NM_001374736.1(DST):c.22377T>C (p.Asp7459=)667DSTLikely benign-1RCV002102523; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633502556335025AG56335025-
NM_001374736.1(DST):c.22363A>G (p.Ile7455Val)667DSTUncertain significance-1RCV001931362; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633503956335039TC56335039-
NM_001374736.1(DST):c.22359A>C (p.Ala7453=)667DSTLikely benign-1RCV002199346; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633504356335043TG56335043-
NM_001374736.1(DST):c.22351G>A (p.Ala7451Thr)667DSTUncertain significance-1RCV001995705; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633505156335051CT56335051-
NM_001374736.1(DST):c.22350C>T (p.Ser7450=)667DSTLikely benign-1RCV002104631; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633505256335052GA56335052-
NM_001374736.1(DST):c.22338C>T (p.Arg7446=)667DSTLikely benign-1RCV002183068; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633506456335064GA56335064-
NM_001374736.1(DST):c.22337G>A (p.Arg7446His)667DSTUncertain significancers768427386RCV001241058; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633506556335065CT6:g.56335065C>T-
NM_001374736.1(DST):c.22322-20C>T667DSTLikely benign-1RCV002209946; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633510056335100GA56335100-
NM_001374736.1(DST):c.22321+13A>G667DSTBenign-1RCV002129798; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633589156335891TC56335891-
NM_001374736.1(DST):c.22318T>A (p.Ser7440Thr)667DSTUncertain significance-1RCV002010601; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633590756335907AT56335907-
NM_001374736.1(DST):c.22312C>A (p.Leu7438Ile)667DSTUncertain significance-1RCV001905866; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633591356335913GT56335913-
NM_001374736.1(DST):c.22305T>C (p.Asp7435=)667DSTBenign/Likely benignrs114094997RCV000979025|RCV001766801; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265633592056335920AG6:g.56335920A>G-
NM_001374736.1(DST):c.22288C>T (p.Arg7430Trp)667DSTUncertain significance-1RCV001362450; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633593756335937GA56335937-
NM_001374736.1(DST):c.22287G>A (p.Thr7429=)667DSTLikely benign-1RCV001460946; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633593856335938CT56335938-
NM_001374736.1(DST):c.22286C>T (p.Thr7429Met)667DSTUncertain significance-1RCV001925517; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633593956335939GA56335939-
NM_001374736.1(DST):c.22251C>T (p.Phe7417=)667DSTLikely benign-1RCV001446879; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633597456335974GA56335974-
NM_001374736.1(DST):c.22248C>T (p.Phe7416=)667DSTLikely benign-1RCV001450492; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633597756335977GA56335977-
NM_001374736.1(DST):c.22195C>T (p.Arg7399Cys)667DSTLikely benign-1RCV001408343; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633603056336030GA56336030-
NM_001374736.1(DST):c.22171G>A (p.Ala7391Thr)667DSTUncertain significancers772254325RCV001307541; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633605456336054CT56336054-
NM_001374736.1(DST):c.22171G>T (p.Ala7391Ser)667DSTUncertain significance-1RCV001373630; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633605456336054CA56336054-
NM_001374736.1(DST):c.22164G>T (p.Arg7388Ser)667DSTUncertain significance-1RCV001950706; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633606156336061CA56336061-
NM_001374736.1(DST):c.22134T>C (p.Asn7378=)667DSTLikely benign-1RCV001432895; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633688156336881AG56336881-
NM_001374736.1(DST):c.22133A>G (p.Asn7378Ser)667DSTUncertain significancers763569325RCV001248119; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633688256336882TC6:g.56336882T>C-
NM_001374736.1(DST):c.22131C>T (p.Leu7377=)667DSTLikely benign-1RCV002131010; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633688456336884GA56336884-
NM_001374736.1(DST):c.22121G>A (p.Arg7374Lys)667DSTUncertain significancers2094926732RCV001240992; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633689456336894CT6:g.56336894C>T-
NM_001374736.1(DST):c.22119A>G (p.Arg7373=)667DSTBenignrs192453671RCV000979598; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633689656336896TC6:g.56336896T>C-
NM_001374736.1(DST):c.22110G>A (p.Ala7370=)667DSTLikely benign-1RCV002127064; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633690556336905CT56336905-
NM_001374736.1(DST):c.22069A>G (p.Asn7357Asp)667DSTUncertain significancers2094927912RCV001323012; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633694656336946TC56336946-
NM_001374736.1(DST):c.22057A>G (p.Asn7353Asp)667DSTUncertain significancers371310558RCV001242501; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633695856336958TC6:g.56336958T>C-
NM_001374736.1(DST):c.22016G>C (p.Ser7339Thr)667DSTUncertain significance-1RCV002039786; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633699956336999CG56336999-
NM_001374736.1(DST):c.22005_22006insAT (p.Pro7336fs)667DSTPathogenicrs2094929531RCV001245997; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633700956337010GGAT6:g.56337009_56337010insAT-
NM_001374736.1(DST):c.22000C>T (p.Arg7334Cys)667DSTUncertain significancers769938845RCV001248117; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633701556337015GA6:g.56337015G>A-
NM_001374736.1(DST):c.21999A>C (p.Lys7333Asn)667DSTUncertain significance-1RCV001973244; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633701656337016TG56337016-
NM_001374736.1(DST):c.21995-18G>C667DSTBenign-1RCV002118115; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633703856337038CG56337038-
NM_001374736.1(DST):c.21995-18G>A667DSTBenign-1RCV002122467; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633703856337038CT56337038-
NM_001374736.1(DST):c.21992G>A (p.Gly7331Glu)667DSTUncertain significancers781156041RCV001240219; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633867356338673CT6:g.56338673C>T-
NM_001374736.1(DST):c.21985C>T (p.Arg7329Ter)667DSTPathogenic-1RCV001994750; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633868056338680GA56338680-
NM_001374736.1(DST):c.21972C>T (p.Val7324=)667DSTLikely benign-1RCV001411957; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633869356338693GA56338693-
NM_001374736.1(DST):c.21955C>G (p.Gln7319Glu)667DSTUncertain significancers749377991RCV001239660; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633871056338710GC6:g.56338710G>C-
NM_001374736.1(DST):c.21951A>G (p.Ser7317=)667DSTLikely benignrs1306326928RCV000982789|RCV001505084; NMedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633871456338714TC6:g.56338714T>C-
NM_001374736.1(DST):c.21943C>T (p.Pro7315Ser)667DSTUncertain significance-1RCV001927551; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633872256338722GA56338722-
NM_001374736.1(DST):c.21915G>A (p.Thr7305=)667DSTLikely benign-1RCV001487210; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633875056338750CT56338750-
NM_001374736.1(DST):c.21885C>T (p.Thr7295=)667DSTLikely benign-1RCV001496768; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633878056338780GA56338780-
NM_001374736.1(DST):c.21875A>T (p.Glu7292Val)667DSTUncertain significance-1RCV002047870; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633879056338790TA56338790-
NM_001374736.1(DST):c.21865-20C>T667DSTLikely benign-1RCV002105259; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633882056338820GA56338820-
NM_001374736.1(DST):c.21864+13T>A667DSTLikely benign-1RCV002156608; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634093456340934AT56340934-
NC_000006.11:g.(?_56340937)_(56342296_?)del667DSTUncertain significance-1RCV001916462; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634093756342296nana-1-
NM_001374736.1(DST):c.21864+7T>C667DSTLikely benign-1RCV001426327; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634094056340940AG56340940-
NM_001374736.1(DST):c.21862C>T (p.Gln7288Ter)667DSTPathogenic-1RCV001895286; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634094956340949GA56340949-
NM_001374736.1(DST):c.21858A>G (p.Glu7286=)667DSTLikely benign-1RCV002213296; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634095356340953TC56340953-
NM_001374736.1(DST):c.21832G>A (p.Glu7278Lys)667DSTUncertain significancers751149116RCV001313676; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634097956340979CT56340979-
NM_001374736.1(DST):c.21830T>C (p.Ile7277Thr)667DSTUncertain significance-1RCV001912413; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634098156340981AG56340981-
NM_001374736.1(DST):c.21824A>C (p.Gln7275Pro)667DSTUncertain significancers2095181390RCV001317820; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634098756340987TG56340987-
NM_001374736.1(DST):c.21821C>G (p.Pro7274Arg)667DSTUncertain significancers1250221052RCV001245433; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634099056340990GC6:g.56340990G>C-
NM_001374736.1(DST):c.21814G>A (p.Val7272Ile)667DSTUncertain significancers767613702RCV001240068; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634099756340997CT6:g.56340997C>T-
NM_001374736.1(DST):c.21814G>C (p.Val7272Leu)667DSTUncertain significance-1RCV001955059; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634099756340997CG56340997-
NM_001374736.1(DST):c.21793C>T (p.Leu7265Phe)667DSTUncertain significancers1757751702RCV001345203; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634101856341018GA56341018-
NM_001374736.1(DST):c.21756del (p.Ala7253fs)667DSTPathogenicrs398122819RCV000024316|RCV001552535; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN51720265634105556341055CTC6:g.56341055_56341055delClinGen:CA281107,OMIM:113810.0001C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.21733A>G (p.Ile7245Val)667DSTUncertain significancers2095184213RCV001245859; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634107856341078TC6:g.56341078T>C-
NM_001374736.1(DST):c.21724G>T (p.Ala7242Ser)667DSTUncertain significance-1RCV001937410; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634108756341087CA56341087-
NM_001374736.1(DST):c.21717T>C (p.Ser7239=)667DSTLikely benign-1RCV002194344; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634109456341094AG56341094-
NM_001374736.1(DST):c.21689C>T (p.Ala7230Val)667DSTUncertain significance-1RCV001363799; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634112256341122GA56341122-
NM_001374736.1(DST):c.21678G>A (p.Val7226=)667DSTUncertain significance-1RCV001364675; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634113356341133CT56341133-
NM_001374736.1(DST):c.21676-6T>C667DSTLikely benign-1RCV002192367; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634114156341141AG56341141-
NM_001374736.1(DST):c.21676-9C>T667DSTLikely benign-1RCV001411469; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634114456341144GA56341144-
NM_001374736.1(DST):c.21676-15_21676-14del667DSTBenign-1RCV001699837|RCV002073261; NMedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634114956341150CAGC56341148-
NM_001374736.1(DST):c.21675+10T>A667DSTLikely benign-1RCV001438795; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634213356342133AT56342133-
NM_001374736.1(DST):c.21675+7G>A667DSTBenign/Likely benign-1RCV001514391|RCV001732197; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265634213656342136CT56342136-
NM_001374736.1(DST):c.21675+4A>G667DSTUncertain significancers2095243185RCV001243704; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634213956342139TC6:g.56342139T>C-
NM_001374736.1(DST):c.21662C>T (p.Ala7221Val)667DSTUncertain significancers376556021RCV001246191; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634215656342156GA6:g.56342156G>A-
NM_001374736.1(DST):c.21659G>A (p.Arg7220Gln)667DSTUncertain significancers765541556RCV001296137; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634215956342159CT56342159-
NM_001374736.1(DST):c.21658C>T (p.Arg7220Trp)667DSTUncertain significance-1RCV001926883; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634216056342160GA56342160-
NM_001374736.1(DST):c.21636T>G (p.Ile7212Met)667DSTUncertain significance-1RCV002012961; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634218256342182AC56342182-
NM_001374736.1(DST):c.21631A>G (p.Thr7211Ala)667DSTUncertain significancers2095244412RCV001247636; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634218756342187TC6:g.56342187T>C-
NM_001374736.1(DST):c.21627C>G (p.Ile7209Met)667DSTUncertain significancers2095244497RCV001247775; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634219156342191GC6:g.56342191G>C-
NM_001374736.1(DST):c.21626T>C (p.Ile7209Thr)667DSTUncertain significance-1RCV002013253; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634219256342192AG56342192-
NM_001374736.1(DST):c.21618C>T (p.Pro7206=)667DSTLikely benign-1RCV001481018; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634220056342200GA56342200-
NM_001374736.1(DST):c.21618C>G (p.Pro7206=)667DSTLikely benign-1RCV002103249; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634220056342200GC56342200-
NM_001374736.1(DST):c.21598G>A (p.Val7200Ile)667DSTUncertain significancers760700573RCV001241530; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634222056342220CT6:g.56342220C>T-
NM_001374736.1(DST):c.21595A>G (p.Thr7199Ala)667DSTUncertain significancers2095245434RCV001240922; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634222356342223TC6:g.56342223T>C-
NM_001374736.1(DST):c.21591C>T (p.Gly7197=)667DSTLikely benign-1RCV001465458; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634222756342227GA56342227-
NM_001374736.1(DST):c.21572A>G (p.Asn7191Ser)667DSTUncertain significancers1310432337RCV001308011; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634224656342246TC56342246-
NM_001374736.1(DST):c.21570A>G (p.Leu7190=)667DSTLikely benign-1RCV001414282; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634224856342248TC56342248-
NM_001374736.1(DST):c.21538A>G (p.Met7180Val)667DSTLikely benignrs200006386RCV001311719|RCV001400269; NMedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634228056342280TC56342280-
NM_001374736.1(DST):c.21531+11T>C667DSTLikely benign-1RCV002188154; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634683756346837AG56346837-
NM_001374736.1(DST):c.21529A>G (p.Lys7177Glu)667DSTUncertain significance-1RCV001368426; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634685056346850TC56346850-
NM_001374736.1(DST):c.21518T>C (p.Ile7173Thr)667DSTUncertain significance-1RCV001889366; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634686156346861AG56346861-
NM_001374736.1(DST):c.21514C>G (p.Leu7172Val)667DSTUncertain significancers1461679972RCV001308419; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634686556346865GC56346865-
NM_001374736.1(DST):c.21510G>A (p.Arg7170=)667DSTLikely benign-1RCV002210662; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634686956346869CT56346869-
NM_001374736.1(DST):c.21509G>A (p.Arg7170Gln)667DSTUncertain significancers201690182RCV001243563; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634687056346870CT6:g.56346870C>T-
NM_001374736.1(DST):c.21503C>G (p.Ala7168Gly)667DSTUncertain significancers201982383RCV001245367; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634687656346876GC6:g.56346876G>C-
NM_001374736.1(DST):c.21500A>G (p.Asp7167Gly)667DSTUncertain significancers1562272106RCV001248734; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634687956346879TC6:g.56346879T>C-
NM_001374736.1(DST):c.21470G>A (p.Arg7157His)667DSTUncertain significancers576138885RCV001244815; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634690956346909CT6:g.56346909C>T-
NM_001374736.1(DST):c.21456G>A (p.Ala7152=)667DSTLikely benign-1RCV001483480; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634692356346923CT56346923-
NM_001374736.1(DST):c.21455C>T (p.Ala7152Val)667DSTUncertain significance-1RCV001373385; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634692456346924GA56346924-
NM_001374736.1(DST):c.21448G>T (p.Ala7150Ser)667DSTUncertain significancers1393774391RCV000821659; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634693156346931CA6:g.56346931C>A-
NM_001374736.1(DST):c.21423G>A (p.Val7141=)667DSTBenignrs201115435RCV000979040; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634695656346956CT6:g.56346956C>T-
NM_001374736.1(DST):c.21421G>T (p.Val7141Leu)667DSTUncertain significance-1RCV001887612; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634695856346958CA56346958-
NM_001374736.1(DST):c.21420G>A (p.Ser7140=)667DSTLikely benign-1RCV001436430; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634695956346959CT56346959-
NM_001374736.1(DST):c.21419C>T (p.Ser7140Leu)667DSTUncertain significance-1RCV001364018; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634696056346960GA56346960-
NM_001374736.1(DST):c.21408G>C (p.Glu7136Asp)667DSTUncertain significance-1RCV001935037; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634697156346971CG56346971-
NM_001374736.1(DST):c.21403-23TG[8]667DSTLikely benignrs144810945RCV000980184|RCV001700683; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265634698556346986TTCA6:g.56346985_56346986insCA-
NM_001374736.1(DST):c.21403-23TG[17]667DSTLikely benign-1RCV001423009; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634698556346986TTCACACACACACACACACACA56346985-
NM_001374736.1(DST):c.21403-23TG[16]667DSTLikely benign-1RCV001463627; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634698556346986TTCACACACACACACACACA56346985-
NM_001374736.1(DST):c.21403-23TG[20]667DSTLikely benign-1RCV001472929; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634698556346986TTCACACACACACACACACACACACACA56346985-
NM_001374736.1(DST):c.21403-23TG[21]667DSTLikely benign-1RCV001501064; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634698556346986TTCACACACACACACACACACACACACACA56346985-
NM_001374736.1(DST):c.21403-23TG[18]667DSTBenign-1RCV001514455; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634698556346986TTCACACACACACACACACACACA56346985-
NM_001374736.1(DST):c.21403-23TG[19]667DSTBenign/Likely benign-1RCV001510455|RCV001732193; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN51720265634698556346986TTCACACACACACACACACACACACA56346985-
NM_001374736.1(DST):c.21403-23TG[6]667DSTBenign-1RCV002122650; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634698656346987TCAT56346985-
NM_001374736.1(DST):c.21402+12G>C667DSTLikely benign-1RCV002208324; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634746956347469CG56347469-
NM_001374736.1(DST):c.21398G>A (p.Arg7133His)667DSTUncertain significance-1RCV002004605; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634748556347485CT56347485-
NM_001374736.1(DST):c.21397C>T (p.Arg7133Cys)667DSTUncertain significancers1465520965RCV001247972; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634748656347486GA6:g.56347486G>A-
NM_001374736.1(DST):c.21379C>T (p.Arg7127Trp)667DSTUncertain significance-1RCV001365517; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634750456347504GA56347504-
NM_001374736.1(DST):c.21364A>G (p.Ile7122Val)667DSTUncertain significancers201703299RCV001243168; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634751956347519TC6:g.56347519T>C-
NM_001374736.1(DST):c.21349G>A (p.Val7117Met)667DSTUncertain significance-1RCV001951970; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634753456347534CT56347534-
NM_001374736.1(DST):c.21348C>T (p.Thr7116=)667DSTLikely benign-1RCV001410053; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634753556347535GA56347535-
NM_001374736.1(DST):c.21347C>G (p.Thr7116Ser)667DSTUncertain significance-1RCV001929298; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634753656347536GC56347536-
NM_001374736.1(DST):c.21338G>A (p.Arg7113His)667DSTUncertain significance-1RCV001992873; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634754556347545CT56347545-
NM_001374736.1(DST):c.21337C>T (p.Arg7113Cys)667DSTUncertain significance-1RCV001987865; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634754656347546GA56347546-
NM_001374736.1(DST):c.21327A>G (p.Glu7109=)667DSTLikely benign-1RCV002213438; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634755656347556TC56347556-
NM_001374736.1(DST):c.21324G>A (p.Gln7108=)667DSTLikely benign-1RCV001459647; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634755956347559CT56347559-
NM_001374736.1(DST):c.21310A>G (p.Lys7104Glu)667DSTUncertain significance-1RCV002006414; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634757356347573TC56347573-
NM_001374736.1(DST):c.21290G>A (p.Arg7097Gln)667DSTUncertain significancers372651269RCV001243633; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634759356347593CT6:g.56347593C>T-
NM_001374736.1(DST):c.21289C>T (p.Arg7097Trp)667DSTUncertain significancers752231990RCV001343637|RCV001507669; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN51720265634759456347594GA56347594-
NM_001374736.1(DST):c.21288T>A (p.Ser7096Arg)667DSTUncertain significancers2095442394RCV001244752; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634759556347595AT6:g.56347595A>T-
NM_001374736.1(DST):c.21269G>A (p.Arg7090Gln)667DSTUncertain significance-1RCV001954811; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634761456347614CT56347614-
NM_001374736.1(DST):c.21268C>G (p.Arg7090Gly)667DSTUncertain significancers753400637RCV001239859; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634761556347615GC6:g.56347615G>C-
NM_001374736.1(DST):c.21260G>A (p.Arg7087His)667DSTUncertain significancers199548754RCV001240341; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634762356347623CT6:g.56347623C>T-
NM_001374736.1(DST):c.21259C>T (p.Arg7087Cys)667DSTUncertain significance-1RCV001945695; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634762456347624GA56347624-
NM_001374736.1(DST):c.21243T>A (p.Ser7081Arg)667DSTUncertain significancers779915352RCV001241868; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634764056347640AT6:g.56347640A>T-
NM_001374736.1(DST):c.21243T>C (p.Ser7081=)667DSTLikely benign-1RCV002152383; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634764056347640AG56347640-
NM_001374736.1(DST):c.21237C>T (p.Thr7079=)667DSTLikely benign-1RCV001437334; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634764656347646GA56347646-
NM_001374736.1(DST):c.21234G>A (p.Arg7078=)667DSTLikely benign-1RCV002146162; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634764956347649CT56347649-
NM_001374736.1(DST):c.21231G>A (p.Lys7077=)667DSTLikely benign-1RCV001422117; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634765256347652CT56347652-
NM_001374736.1(DST):c.21208-2A>T667DSTLikely pathogenic-1RCV001961435; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634767756347677TA56347677-
NM_001374736.1(DST):c.21204C>T (p.His7068=)667DSTLikely benign-1RCV001481202; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635011356350113GA56350113-
NM_001374736.1(DST):c.21195C>A (p.Ile7065=)667DSTUncertain significancers759930255RCV001338339; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635012256350122GT56350122-
NM_001374736.1(DST):c.21187A>G (p.Asn7063Asp)667DSTUncertain significancers2095526396RCV001245996; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635013056350130TC6:g.56350130T>C-
NM_001374736.1(DST):c.21183G>T (p.Val7061=)667DSTLikely benign-1RCV001480716; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635013456350134CA56350134-
NM_001374736.1(DST):c.21181G>A (p.Val7061Met)667DSTUncertain significancers1308825083RCV001247057; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635013656350136CT6:g.56350136C>T-
NM_001374736.1(DST):c.21178T>C (p.Leu7060=)667DSTLikely benign-1RCV001405655; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635013956350139AG56350139-
NM_001374736.1(DST):c.21153C>A (p.Asp7051Glu)667DSTUncertain significance-1RCV001368160; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635016456350164GT56350164-
NM_001374736.1(DST):c.21141G>A (p.Gln7047=)667DSTLikely benign-1RCV001477870; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635017656350176CT56350176-
NM_001374736.1(DST):c.21102A>G (p.Leu7034=)667DSTLikely benign-1RCV002113015; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635021556350215TC56350215-
NM_001374736.1(DST):c.21100C>T (p.Leu7034=)667DSTLikely benign-1RCV001441376; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635021756350217GA56350217-
NM_001374736.1(DST):c.21048-1G>T667DSTLikely pathogenic-1RCV001378330; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635027056350270CA56350270-
NM_001374736.1(DST):c.21048-4C>G667DSTLikely benign-1RCV001467673; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635027356350273GC56350273-
NM_001374736.1(DST):c.21048-5C>T667DSTLikely benign-1RCV001483481; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635027456350274GA56350274-
NM_001374736.1(DST):c.21047+9T>A667DSTLikely benign-1RCV001393798; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635189356351893AT56351893-
NM_001374736.1(DST):c.21015A>G (p.Lys7005=)667DSTUncertain significance-1RCV002030168; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635193456351934TC56351934-
NM_001374736.1(DST):c.21011A>C (p.Asp7004Ala)667DSTUncertain significance-1RCV001914180; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635193856351938TG56351938-
NM_001374736.1(DST):c.21001G>C (p.Glu7001Gln)667DSTUncertain significancers555055845RCV001248591; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635194856351948CG6:g.56351948C>G-
NM_001374736.1(DST):c.20997G>A (p.Leu6999=)667DSTBenign/Likely benignrs187652380RCV000625437|RCV000979000|RCV001701418|RCV001785683; NMONDO: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:CN169374|MedGen:CN51720265635195256351952CT6:g.56351952C>TClinGen:CA3866608C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.20993T>C (p.Met6998Thr)667DSTUncertain significance-1RCV002021843; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635195656351956AG56351956-
NM_001374736.1(DST):c.20988T>A (p.Asp6996Glu)667DSTUncertain significance-1RCV001912301; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635196156351961AT56351961-
NM_001374736.1(DST):c.20981A>G (p.Lys6994Arg)667DSTUncertain significancers747140695RCV001243634; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635196856351968TC6:g.56351968T>C-
NM_001374736.1(DST):c.20977C>G (p.Leu6993Val)667DSTBenign-1RCV001517025|RCV001685392; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265635197256351972GC56351972-
NM_001374736.1(DST):c.20976C>T (p.Asn6992=)667DSTBenign/Likely benignrs199658821RCV000979024|RCV001311720; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265635197356351973GA6:g.56351973G>A-
NM_001374736.1(DST):c.20976C>A (p.Asn6992Lys)667DSTUncertain significance-1RCV001867749; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635197356351973GT56351973-
NM_001374736.1(DST):c.20975A>G (p.Asn6992Ser)667DSTUncertain significancers780386919RCV000805306; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635197456351974TC6:g.56351974T>C-
NM_001374736.1(DST):c.20971G>A (p.Asp6991Asn)667DSTUncertain significance-1RCV002031854; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635197856351978CT56351978-
NM_001374736.1(DST):c.20969A>C (p.Asp6990Ala)667DSTUncertain significancers2095597405RCV001246857; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635198056351980TG6:g.56351980T>G-
NM_001374736.1(DST):c.20963T>G (p.Leu6988Arg)667DSTUncertain significancers769301413RCV001244614; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635198656351986AC6:g.56351986A>C-
NM_001374736.1(DST):c.20937A>G (p.Gly6979=)667DSTLikely benign-1RCV002093319; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635201256352012TC56352012-
NM_001374736.1(DST):c.20924C>T (p.Thr6975Ile)667DSTUncertain significancers775114465RCV001244613; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635202556352025GA6:g.56352025G>A-
NM_001374736.1(DST):c.20923A>G (p.Thr6975Ala)667DSTUncertain significancers2095598634RCV001343514; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635202656352026TC56352026-
NM_001374736.1(DST):c.20904G>T (p.Lys6968Asn)667DSTUncertain significancers373333745RCV001244417; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635204556352045CA6:g.56352045C>A-
NM_001374736.1(DST):c.20895C>T (p.Leu6965=)667DSTLikely benign-1RCV001506338; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635205456352054GA56352054-
NM_001374736.1(DST):c.20878-3T>C667DSTUncertain significancers961527038RCV001245720; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635207456352074AG6:g.56352074A>G-
NM_001374736.1(DST):c.20878-8dup667DSTUncertain significance-1RCV001954870; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635207856352079AAT56352078-
NM_001374736.1(DST):c.20871A>G (p.Gln6957=)667DSTBenignrs572477548RCV000982023; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635429456354294TC6:g.56354294T>C-
NM_001374736.1(DST):c.20847C>T (p.Asp6949=)667DSTLikely benign-1RCV001492091; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635431856354318GA56354318-
NM_001374736.1(DST):c.20836A>T (p.Asn6946Tyr)667DSTUncertain significancers910349740RCV001241253; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635432956354329TA6:g.56354329T>A-
NM_001374736.1(DST):c.20834C>T (p.Ala6945Val)667DSTUncertain significancers2095669121RCV001241452; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635433156354331GA6:g.56354331G>A-
NM_001374736.1(DST):c.20825T>C (p.Leu6942Pro)667DSTUncertain significance-1RCV001875676; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635434056354340AG56354340-
NM_001374736.1(DST):c.20783T>C (p.Met6928Thr)667DSTUncertain significancers763176568RCV001243096; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635438256354382AG6:g.56354382A>G-
NM_001374736.1(DST):c.20783T>A (p.Met6928Lys)667DSTUncertain significance-1RCV001939862; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635438256354382AT56354382-
NM_001374736.1(DST):c.20767G>A (p.Ala6923Thr)667DSTUncertain significancers767948298RCV001319143; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635439856354398CT56354398-
NM_001374736.1(DST):c.20762A>G (p.His6921Arg)667DSTUncertain significance-1RCV002016536; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635440356354403TC56354403-
NM_001374736.1(DST):c.20761C>T (p.His6921Tyr)667DSTUncertain significancers2095670422RCV001309635; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635440456354404GA56354404-
NM_001374736.1(DST):c.20760C>G (p.Phe6920Leu)667DSTUncertain significancers374056754RCV001242693; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635440556354405GC6:g.56354405G>C-
NM_001374736.1(DST):c.20757+1G>A667DSTLikely pathogenic-1RCV001379738; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635702456357024CT56357024-
NM_001374736.1(DST):c.20756A>G (p.Gln6919Arg)667DSTUncertain significancers771106035RCV001243095; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635702656357026TC6:g.56357026T>C-
NM_001374736.1(DST):c.20726C>A (p.Ser6909Tyr)667DSTUncertain significancers371015718RCV001339296; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635705656357056GT56357056-
NM_001374736.1(DST):c.20722A>G (p.Arg6908Gly)667DSTUncertain significance-1RCV002039021; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635706056357060TC56357060-
NM_001374736.1(DST):c.20718A>T (p.Arg6906Ser)667DSTUncertain significancers936474152RCV000795797; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635706456357064TA6:g.56357064T>A-
NM_001374736.1(DST):c.20709G>A (p.Leu6903=)667DSTUncertain significancers764552655RCV001308244; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635707356357073CT56357073-
NM_001374736.1(DST):c.20705G>A (p.Arg6902Gln)667DSTUncertain significancers754316339RCV001246800; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635707756357077CT6:g.56357077C>T-
NM_001374736.1(DST):c.20698G>T (p.Val6900Phe)667DSTUncertain significance-1RCV001924222; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635708456357084CA56357084-
NM_001374736.1(DST):c.20684G>T (p.Arg6895Leu)667DSTUncertain significancers371273718RCV001339277; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635709856357098CA56357098-
NM_001374736.1(DST):c.20684G>A (p.Arg6895Gln)667DSTUncertain significancers371273718RCV001341014; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635709856357098CT56357098-
NM_001374736.1(DST):c.20659A>G (p.Asn6887Asp)667DSTUncertain significancers2095777312RCV001241251; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635712356357123TC6:g.56357123T>C-
NM_001374736.1(DST):c.20612C>T (p.Thr6871Ile)667DSTUncertain significancers2095778341RCV001240343; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635717056357170GA6:g.56357170G>A-
NM_001374736.1(DST):c.20606C>T (p.Thr6869Ile)667DSTUncertain significance-1RCV001982684; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635717656357176GA56357176-
NM_001374736.1(DST):c.20596C>T (p.Leu6866=)667DSTLikely benign-1RCV002177565; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635718656357186GA56357186-
NM_001374736.1(DST):c.20593G>C (p.Glu6865Gln)667DSTUncertain significance-1RCV002004002; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635718956357189CG56357189-
NM_001374736.1(DST):c.20578C>T (p.Arg6860Cys)667DSTUncertain significancers769340564RCV000823541; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635720456357204GA6:g.56357204G>A-
NM_001374736.1(DST):c.20561A>G (p.Asn6854Ser)667DSTUncertain significancers372049401RCV000797123; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635722156357221TC6:g.56357221T>C-
NM_001374736.1(DST):c.20560A>C (p.Asn6854His)667DSTUncertain significance-1RCV001365519; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635722256357222TG56357222-
NM_001374736.1(DST):c.20559C>T (p.Ala6853=)667DSTLikely benign-1RCV001417742; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635722356357223GA56357223-
NM_001374736.1(DST):c.20551G>A (p.Val6851Ile)667DSTUncertain significance-1RCV002035754; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635723156357231CT56357231-
NM_001374736.1(DST):c.20551-3A>C667DSTUncertain significancers1192992788RCV001071469; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635723456357234TG6:g.56357234T>G-
NM_001374736.1(DST):c.20551-16dup667DSTBenign-1RCV001510721; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635724056357241GGA56357240-
NM_001374736.1(DST):c.20551-10T>C667DSTBenignrs191932729RCV000979023; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635724156357241AG6:g.56357241A>G-
NM_001374736.1(DST):c.20551-10del667DSTBenign-1RCV001514673; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635724156357241GAG56357240-
NM_001374736.1(DST):c.20548A>G (p.Lys6850Glu)667DSTUncertain significance-1RCV001987538; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635773456357734TC56357734-
NM_001374736.1(DST):c.20542G>A (p.Glu6848Lys)667DSTUncertain significancers201305293RCV001245090; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635774056357740CT6:g.56357740C>T-
NM_001374736.1(DST):c.20541C>T (p.Asp6847=)667DSTBenign-1RCV001514393; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635774156357741GA56357741-
NM_001374736.1(DST):c.20537T>C (p.Ile6846Thr)667DSTUncertain significancers762395369RCV001350784; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635774556357745AG56357745-
NM_001374736.1(DST):c.20524G>C (p.Val6842Leu)667DSTUncertain significance-1RCV001962445; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635775856357758CG56357758-
NM_001374736.1(DST):c.20511C>G (p.Leu6837=)667DSTLikely benign-1RCV001485923; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635777156357771GC56357771-
NM_001374736.1(DST):c.20500C>T (p.Arg6834Trp)667DSTUncertain significance-1RCV002002668; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635778256357782GA56357782-
NM_001374736.1(DST):c.20482A>G (p.Thr6828Ala)667DSTUncertain significance-1RCV002023629; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635780056357800TC56357800-
NM_001374736.1(DST):c.20451C>T (p.Asp6817=)667DSTLikely benign-1RCV001470824; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635783156357831GA56357831-
NM_001374736.1(DST):c.20446C>T (p.Gln6816Ter)667DSTPathogenicrs2095802050RCV001244420; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635783656357836GA6:g.56357836G>A-
NM_001374736.1(DST):c.20438A>G (p.Asn6813Ser)667DSTConflicting interpretations of pathogenicityrs199628430RCV000625438|RCV000801103|RCV001529345; NMONDO: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:CN51720265635784456357844TCNC_000006.11:g.56357844T>CClinGen:CA3866746C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.20426T>C (p.Met6809Thr)667DSTUncertain significancers781336562RCV001242888; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635785656357856AG6:g.56357856A>G-
NM_001374736.1(DST):c.20412T>C (p.Ala6804=)667DSTLikely benign-1RCV001400710; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635787056357870AG56357870-
NM_001374736.1(DST):c.20398A>G (p.Lys6800Glu)667DSTUncertain significance-1RCV001929219; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635788456357884TC56357884-
NM_001374736.1(DST):c.20394+20_20394+24del667DSTUncertain significance-1RCV002033147; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635878456358788CTATTAC56358783-
NM_001374736.1(DST):c.20394+19A>G667DSTLikely benign-1RCV002076048; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635878956358789TC56358789-
NM_001374736.1(DST):c.20394+14T>C667DSTLikely benign-1RCV002156137; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635879456358794AG56358794-
NM_001374736.1(DST):c.20392A>G (p.Lys6798Glu)667DSTUncertain significancers560268832RCV001247834; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635881056358810TC6:g.56358810T>C-
NM_001374736.1(DST):c.20384A>G (p.Asn6795Ser)667DSTUncertain significance-1RCV001952301; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635881856358818TC56358818-
NM_001374736.1(DST):c.20382C>G (p.Leu6794=)667DSTLikely benign-1RCV002194382; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635882056358820GC56358820-
NM_001374736.1(DST):c.20367G>A (p.Ser6789=)667DSTLikely benign-1RCV001431539; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635883556358835CT56358835-
NM_001374736.1(DST):c.20366C>T (p.Ser6789Leu)667DSTUncertain significance-1RCV001894890; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635883656358836GA56358836-
NM_001374736.1(DST):c.20346C>T (p.Asn6782=)667DSTBenignrs200110251RCV000980179; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635885656358856GA6:g.56358856G>A-
NM_001374736.1(DST):c.20345A>C (p.Asn6782Thr)667DSTUncertain significancers764679996RCV001241065; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635885756358857TG6:g.56358857T>G-
NM_001374736.1(DST):c.20317G>A (p.Glu6773Lys)667DSTUncertain significance-1RCV001978826; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635888556358885CT56358885-
NM_001374736.1(DST):c.20303G>T (p.Cys6768Phe)667DSTUncertain significancers2095837433RCV001244543; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635889956358899CA6:g.56358899C>A-
NM_001374736.1(DST):c.20283C>G (p.Gly6761=)667DSTLikely benign-1RCV001468551; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635891956358919GC56358919-
NM_001374736.1(DST):c.20282G>A (p.Gly6761Asp)667DSTUncertain significancers746273825RCV001294789; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635892056358920CT56358920-
NM_001374736.1(DST):c.20273T>C (p.Met6758Thr)667DSTUncertain significance-1RCV001363262; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635892956358929AG56358929-
NM_001374736.1(DST):c.20271G>A (p.Leu6757=)667DSTLikely benign-1RCV002181967; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635893156358931CT56358931-
NM_001374736.1(DST):c.20265G>A (p.Lys6755=)667DSTLikely benign-1RCV002153089; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635893756358937CT56358937-
NM_001374736.1(DST):c.20254G>T (p.Glu6752Ter)667DSTPathogenic-1RCV002000032; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635894856358948CA56358948-
NM_001374736.1(DST):c.20224-15G>A667DSTLikely benign-1RCV002116944; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635899356358993CT56358993-
NM_001374736.1(DST):c.20223+20C>G667DSTLikely benign-1RCV002124390; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636215756362157GC56362157-
NM_001374736.1(DST):c.20223+7_20223+8dup667DSTLikely benign-1RCV001406540; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636216756362168CCTT56362167-
NM_001374736.1(DST):c.20213A>C (p.Asn6738Thr)667DSTUncertain significancers368434678RCV001345882; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636218756362187TG56362187-
NM_001374736.1(DST):c.20209C>G (p.Leu6737Val)667DSTUncertain significance-1RCV002044247; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636219156362191GC56362191-
NM_001374736.1(DST):c.20203G>A (p.Glu6735Lys)667DSTUncertain significance-1RCV001989329; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636219756362197CT56362197-
NM_001374736.1(DST):c.20201A>T (p.Lys6734Met)667DSTUncertain significancers2095955225RCV001242821; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636219956362199TA6:g.56362199T>A-
NM_001374736.1(DST):c.20190G>A (p.Pro6730=)667DSTLikely benign-1RCV002152855; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636221056362210CT56362210-
NM_001374736.1(DST):c.20189C>T (p.Pro6730Leu)667DSTUncertain significance-1RCV001991114; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636221156362211GA56362211-
NM_001374736.1(DST):c.20175G>A (p.Pro6725=)667DSTLikely benign-1RCV001447123; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636222556362225CT56362225-
NM_001374736.1(DST):c.20174C>T (p.Pro6725Leu)667DSTUncertain significancers372733281RCV001327019; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636222656362226GA56362226-
NM_001374736.1(DST):c.20153G>A (p.Arg6718His)667DSTBenign-1RCV001514459; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636224756362247CT56362247-
NM_001374736.1(DST):c.20148G>A (p.Thr6716=)667DSTLikely benign-1RCV002144262; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636225256362252CT56362252-
NM_001374736.1(DST):c.20147C>T (p.Thr6716Met)667DSTUncertain significance-1RCV001984648; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636225356362253GA56362253-
NM_001374736.1(DST):c.20119G>C (p.Glu6707Gln)667DSTUncertain significancers944605347RCV000800694; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636228156362281CG6:g.56362281C>G-
NM_001374736.1(DST):c.20113G>A (p.Glu6705Lys)667DSTUncertain significancers376734906RCV001242892; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636228756362287CT6:g.56362287C>T-
NM_001374736.1(DST):c.20109T>C (p.His6703=)667DSTLikely benign-1RCV002197607; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636229156362291AG56362291-
NM_001374736.1(DST):c.20107C>T (p.His6703Tyr)667DSTUncertain significancers1464061736RCV001343161; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636229356362293GA56362293-
NM_001374736.1(DST):c.20106C>T (p.Phe6702=)667DSTLikely benign-1RCV002156126; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636229456362294GA56362294-
NM_001374736.1(DST):c.20097C>T (p.Ala6699=)667DSTBenign-1RCV001517143; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636230356362303GA56362303-
NM_001374736.1(DST):c.20095-18_20095-2dup667DSTUncertain significance-1RCV001955090; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636230656362307CCTGAAGTAATAGGCAGTT56362306-
NM_001374736.1(DST):c.20095-5T>A667DSTUncertain significancers1259182802RCV001306402; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636231056362310AT56362310-
NM_001374736.1(DST):c.20095-12C>T667DSTLikely benign-1RCV002083970; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636231756362317GA56362317-
NM_001374736.1(DST):c.20094+11G>A667DSTLikely benign-1RCV002215166; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636264356362643CT56362643-
NM_001374736.1(DST):c.20094G>C (p.Gln6698His)667DSTUncertain significancers2095975052RCV001245232; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636265456362654CG6:g.56362654C>G-
NM_001374736.1(DST):c.20090G>A (p.Arg6697His)667DSTUncertain significance-1RCV001872438; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636265856362658CT56362658-
NM_001374736.1(DST):c.20083G>A (p.Ala6695Thr)667DSTUncertain significance-1RCV001991296; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636266556362665CT56362665-
NM_001374736.1(DST):c.20064G>A (p.Arg6688=)667DSTLikely benign-1RCV001429735; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636268456362684CT56362684-
NM_001374736.1(DST):c.20053dup (p.Thr6685fs)667DSTPathogenicrs2095976276RCV001241388; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636269456362695GGT6:g.56362694_56362695insT-
NM_001374736.1(DST):c.20049A>G (p.Glu6683=)667DSTLikely benign-1RCV001467672; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636269956362699TC56362699-
NM_001374736.1(DST):c.20030G>A (p.Arg6677His)667DSTUncertain significancers748356651RCV001239302; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636271856362718CT6:g.56362718C>T-
NM_001374736.1(DST):c.20029C>T (p.Arg6677Cys)667DSTUncertain significancers367862312RCV001246065; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636271956362719GA6:g.56362719G>A-
NM_001374736.1(DST):c.20026C>A (p.Gln6676Lys)667DSTUncertain significance-1RCV001363708; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636272256362722GT56362722-
NM_001374736.1(DST):c.20024A>G (p.Asn6675Ser)667DSTUncertain significancers1282843908RCV001243636; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636272456362724TC6:g.56362724T>C-
NM_001374736.1(DST):c.20003A>G (p.Gln6668Arg)667DSTUncertain significance-1RCV001961409; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636274556362745TC56362745-
NM_001374736.1(DST):c.19984G>A (p.Glu6662Lys)667DSTUncertain significance-1RCV002030811; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636276456362764CT56362764-
NM_001374736.1(DST):c.19978G>T (p.Ala6660Ser)667DSTUncertain significance-1RCV001363873; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636277056362770CA56362770-
NM_001374736.1(DST):c.19967T>C (p.Ile6656Thr)667DSTUncertain significance-1RCV001918302; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636278156362781AG56362781-
NM_001374736.1(DST):c.19942G>A (p.Val6648Ile)667DSTUncertain significancers754970520RCV001345407; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636280656362806CT56362806-
NM_001374736.1(DST):c.19941C>T (p.Ala6647=)667DSTLikely benign-1RCV001450812; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636280756362807GA56362807-
NM_001374736.1(DST):c.19941C>A (p.Ala6647=)667DSTLikely benign-1RCV002088447; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636280756362807GT56362807-
NM_001374736.1(DST):c.19914A>G (p.Val6638=)667DSTBenign-1RCV001517083; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636283456362834TC56362834-
NM_001374736.1(DST):c.19902C>T (p.Leu6634=)667DSTLikely benign-1RCV002202918; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636284656362846GA56362846-
NM_001374736.1(DST):c.19896+9C>T667DSTLikely benign-1RCV002123919; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636586956365869GA56365869-
NM_001374736.1(DST):c.19896+4C>T667DSTUncertain significancers368685568RCV001309254; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636587456365874GA56365874-
NM_001374736.1(DST):c.19893T>C (p.His6631=)667DSTLikely benign-1RCV001461935; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636588156365881AG56365881-
NM_001374736.1(DST):c.19858G>A (p.Asp6620Asn)667DSTUncertain significancers2096107643RCV001243164; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636591656365916CT6:g.56365916C>T-
NM_001374736.1(DST):c.19842G>T (p.Gln6614His)667DSTUncertain significancers376562335RCV001241127; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636593256365932CA6:g.56365932C>A-
NM_001374736.1(DST):c.19822G>A (p.Glu6608Lys)667DSTUncertain significancers752623511RCV001245369; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636595256365952CT6:g.56365952C>T-
NM_001374736.1(DST):c.19821C>T (p.Thr6607=)667DSTLikely benign-1RCV001409233; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636595356365953GA56365953-
NM_001374736.1(DST):c.19821C>G (p.Thr6607=)667DSTLikely benign-1RCV001435078; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636595356365953GC56365953-
NM_001374736.1(DST):c.19820C>G (p.Thr6607Ser)667DSTUncertain significancers911141337RCV001326128; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636595456365954GC56365954-
NM_001374736.1(DST):c.19815A>G (p.Thr6605=)667DSTLikely benign-1RCV001416844; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636595956365959TC56365959-
NM_001374736.1(DST):c.19782A>G (p.Gln6594=)667DSTLikely benign-1RCV002079868; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636599256365992TC56365992-
NM_001374736.1(DST):c.19776G>A (p.Gln6592=)667DSTLikely benign-1RCV002085322; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636599856365998CT56365998-
NM_001374736.1(DST):c.19761A>G (p.Leu6587=)667DSTLikely benign-1RCV001455218; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636601356366013TC56366013-
NM_001374736.1(DST):c.19741-7del667DSTLikely benign-1RCV001467254; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636604056366040GAG56366039-
NM_001374736.1(DST):c.19740+19_19740+59del667DSTUncertain significance-1RCV001926265; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636625956366299TTTACATTAATATCTGAAATTGAAAATTTATAATTTCTTAAGT56366258-
NM_001374736.1(DST):c.19733A>G (p.Asn6578Ser)667DSTUncertain significance-1RCV001864606; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636632556366325TC56366325-
NM_001374736.1(DST):c.19698A>G (p.Lys6566=)667DSTLikely benign-1RCV001487341; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636636056366360TC56366360-
NM_001374736.1(DST):c.19693C>T (p.Leu6565=)667DSTLikely benign-1RCV001465487; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636636556366365GA56366365-
NM_001374736.1(DST):c.19689G>A (p.Met6563Ile)667DSTUncertain significancers1488090620RCV001303269; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636636956366369CT56366369-
NM_001374736.1(DST):c.19683A>G (p.Pro6561=)667DSTLikely benign-1RCV001498984; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636637556366375TC56366375-
NM_001374736.1(DST):c.19656G>C (p.Glu6552Asp)667DSTUncertain significancers199549741RCV000813415; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636640256366402CG6:g.56366402C>G-
NM_001374736.1(DST):c.19649C>T (p.Thr6550Ile)667DSTUncertain significance-1RCV001932182; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636640956366409GA56366409-
NM_001374736.1(DST):c.19648A>G (p.Thr6550Ala)667DSTBenignrs147983675RCV000979190; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636641056366410TC6:g.56366410T>C-
NM_001374736.1(DST):c.19630C>T (p.Leu6544Phe)667DSTUncertain significancers1314348115RCV001240273; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636642856366428GA6:g.56366428G>A-
NM_001374736.1(DST):c.19630C>G (p.Leu6544Val)667DSTUncertain significancers1314348115RCV001248122; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636642856366428GC6:g.56366428G>C-
NM_001374736.1(DST):c.19604T>C (p.Met6535Thr)667DSTUncertain significancers1371787646RCV001327629; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636645456366454AG56366454-
NM_001374736.1(DST):c.19594C>G (p.Gln6532Glu)667DSTUncertain significance-1RCV001891932; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636646456366464GC56366464-
NM_001374736.1(DST):c.19590A>G (p.Gln6530=)667DSTLikely benign-1RCV002204038; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636646856366468TC56366468-
NM_001374736.1(DST):c.19582G>A (p.Ala6528Thr)667DSTUncertain significance-1RCV002013600; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636647656366476CT56366476-
NM_001374736.1(DST):c.19566+15T>C667DSTLikely benign-1RCV002094222; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636878056368780AG56368780-
NM_001374736.1(DST):c.19566+11G>A667DSTLikely benign-1RCV002178184; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636878456368784CT56368784-
NM_001374736.1(DST):c.19566+7G>T667DSTLikely benign-1RCV001477825; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636878856368788CA56368788-
NM_001374736.1(DST):c.19560G>A (p.Glu6520=)667DSTLikely benign-1RCV002120252; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636880156368801CT56368801-
NM_001374736.1(DST):c.19553T>C (p.Ile6518Thr)667DSTUncertain significancers781138348RCV001245857; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636880856368808AG6:g.56368808A>G-
NM_001374736.1(DST):c.19538C>T (p.Thr6513Ile)667DSTUncertain significancers200108872RCV001322473; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636882356368823GA56368823-
NM_001374736.1(DST):c.19538C>A (p.Thr6513Asn)667DSTUncertain significance-1RCV002010953; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636882356368823GT56368823-
NM_001374736.1(DST):c.19533C>T (p.Leu6511=)667DSTLikely benign-1RCV002176420; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636882856368828GA56368828-
NM_001374736.1(DST):c.19491A>G (p.Ala6497=)667DSTLikely benignrs1583341150RCV001407451|RCV000980441; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265636887056368870TC6:g.56368870T>C-
NM_001374736.1(DST):c.19470A>G (p.Val6490=)667DSTLikely benign-1RCV001435148; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636889156368891TC56368891-
NM_001374736.1(DST):c.19467G>A (p.Ala6489=)667DSTUncertain significance-1RCV002022199; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636889456368894CT56368894-
NM_001374736.1(DST):c.19466C>T (p.Ala6489Val)667DSTUncertain significancers766294952RCV001239368|RCV001261749; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|65636889556368895GA6:g.56368895G>A-
NM_001374736.1(DST):c.19465-19G>T667DSTLikely benign-1RCV001904759; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636891556368915CA56368915-
NM_001374736.1(DST):c.19464+16T>C667DSTLikely benign-1RCV002107838; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637122556371225AG56371225-
NM_001374736.1(DST):c.19453G>T (p.Asp6485Tyr)667DSTUncertain significancers2096316666RCV001246466; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637125256371252CA6:g.56371252C>A-
NM_001374736.1(DST):c.19441G>A (p.Val6481Ile)667DSTUncertain significance-1RCV001962441; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637126456371264CT56371264-
NM_001374736.1(DST):c.19440C>T (p.Ala6480=)667DSTLikely benign-1RCV002100948; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637126556371265GA56371265-
NM_001374736.1(DST):c.19415A>G (p.Lys6472Arg)667DSTUncertain significance-1RCV001952078; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637129056371290TC56371290-
NM_001374736.1(DST):c.19409T>C (p.Ile6470Thr)667DSTUncertain significance-1RCV001954240; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637129656371296AG56371296-
NM_001374736.1(DST):c.19406G>A (p.Arg6469Gln)667DSTUncertain significancers767731448RCV001246531; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637129956371299CT6:g.56371299C>T-
NM_001374736.1(DST):c.19392A>G (p.Lys6464=)667DSTUncertain significancers2096318328RCV001248467; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637131356371313TC6:g.56371313T>C-
NM_001374736.1(DST):c.19362+8T>G667DSTLikely benign-1RCV001472923; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637145756371457AC56371457-
NM_001374736.1(DST):c.19356A>G (p.Ile6452Met)667DSTUncertain significancers2096326322RCV001294444; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637147156371471TC56371471-
NM_001374736.1(DST):c.19346A>G (p.Lys6449Arg)667DSTUncertain significancers775631178RCV001319144; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637148156371481TC56371481-
NM_001374736.1(DST):c.19345A>T (p.Lys6449Ter)667DSTPathogenic/Likely pathogenicrs1562435373RCV000754992; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637148256371482TANC_000006.11:g.56371482T>AOMIM:113810.0004
NM_001374736.1(DST):c.19344C>A (p.Val6448=)667DSTBenignrs201031760RCV000979004; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637148356371483GT6:g.56371483G>T-
NM_001374736.1(DST):c.19339A>G (p.Ile6447Val)667DSTUncertain significance-1RCV001896165; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637148856371488TC56371488-
NM_001374736.1(DST):c.19337C>T (p.Pro6446Leu)667DSTUncertain significance-1RCV002005197; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637149056371490GA56371490-
NM_001374736.1(DST):c.19332T>C (p.Asp6444=)667DSTLikely benign-1RCV001424427; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637149556371495AG56371495-
NM_001374736.1(DST):c.19322G>A (p.Gly6441Glu)667DSTUncertain significance-1RCV001771546|RCV001885057; NMedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637150556371505CT56371505-
NM_001374736.1(DST):c.19320T>C (p.Cys6440=)667DSTLikely benign-1RCV002158521; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637150756371507AG56371507-
NM_001374736.1(DST):c.19317A>G (p.Ala6439=)667DSTLikely benign-1RCV001467255; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637151056371510TC56371510-
NM_001374736.1(DST):c.19314G>A (p.Ala6438=)667DSTUncertain significance-1RCV001925513; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637151356371513CT56371513-
NM_001374736.1(DST):c.19313C>T (p.Ala6438Val)667DSTUncertain significance-1RCV001972990; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637151456371514GA56371514-
NM_001374736.1(DST):c.19294C>G (p.Leu6432Val)667DSTUncertain significancers1463615455RCV001348488; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637153356371533GC56371533-
NM_001374736.1(DST):c.19272G>T (p.Glu6424Asp)667DSTUncertain significancers2096328571RCV001242822; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637155556371555CA6:g.56371555C>A-
NM_001374736.1(DST):c.19240-10C>G667DSTLikely benign-1RCV002119953; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637159756371597GC56371597-
NM_001374736.1(DST):c.19240-15A>G667DSTLikely benign-1RCV002093384; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637160256371602TC56371602-
NM_001374736.1(DST):c.19239+10A>T667DSTLikely benignrs767526367RCV000979186|RCV001415831; NMedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637331756373317TA6:g.56373317T>A-
NM_001374736.1(DST):c.19233A>G (p.Ala6411=)667DSTLikely benign-1RCV001395943; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637333356373333TC56373333-
NM_001374736.1(DST):c.19230A>G (p.Glu6410=)667DSTLikely benign-1RCV001444665; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637333656373336TC56373336-
NM_001374736.1(DST):c.19213G>A (p.Val6405Ile)667DSTUncertain significancers2096396105RCV001316932; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637335356373353CT56373353-
NM_001374736.1(DST):c.19212A>G (p.Val6404=)667DSTUncertain significance-1RCV001999457; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637335456373354TC56373354-
NM_001374736.1(DST):c.19211T>G (p.Val6404Gly)667DSTUncertain significance-1RCV001962431; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637335556373355AC56373355-
NM_001374736.1(DST):c.19210G>A (p.Val6404Ile)667DSTUncertain significancers773401291RCV001239171; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637335656373356CT6:g.56373356C>T-
NM_001374736.1(DST):c.19192C>A (p.Pro6398Thr)667DSTUncertain significance-1RCV001956989; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637337456373374GT56373374-
NM_001374736.1(DST):c.19178G>A (p.Arg6393Gln)667DSTUncertain significancers759918675RCV001246651; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637338856373388CT6:g.56373388C>T-
NM_001374736.1(DST):c.19177C>T (p.Arg6393Trp)667DSTUncertain significance-1RCV002027538; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637338956373389GA56373389-
NM_001374736.1(DST):c.19175T>C (p.Ile6392Thr)667DSTUncertain significance-1RCV001919427; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637339156373391AG56373391-
NM_001374736.1(DST):c.19141T>C (p.Leu6381=)667DSTLikely benign-1RCV001451708; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637342556373425AG56373425-
NM_001374736.1(DST):c.19135A>T (p.Met6379Leu)667DSTUncertain significance-1RCV001373555; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637343156373431TA56373431-
NM_001374736.1(DST):c.19111G>A (p.Ala6371Thr)667DSTUncertain significance-1RCV001920777; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637345556373455CT56373455-
NM_001374736.1(DST):c.19108C>G (p.Leu6370Val)667DSTUncertain significancers2096398026RCV001299561; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637345856373458GC56373458-
NM_001374736.1(DST):c.19102A>G (p.Met6368Val)667DSTUncertain significance-1RCV002049214; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637346456373464TC56373464-
NM_001374736.1(DST):c.19095G>T (p.Leu6365=)667DSTLikely benign-1RCV001481542; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637347156373471CA56373471-
NM_001374736.1(DST):c.19088A>C (p.Lys6363Thr)667DSTUncertain significance-1RCV001991609; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637347856373478TG56373478-
NM_001374736.1(DST):c.19074A>G (p.Glu6358=)667DSTLikely benign-1RCV002184391; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637349256373492TC56373492-
NM_001374736.1(DST):c.19056C>T (p.Asn6352=)667DSTLikely benign-1RCV001470385; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637351056373510GA56373510-
NM_001374736.1(DST):c.19047T>C (p.Ile6349=)667DSTLikely benign-1RCV001451856; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637351956373519AG56373519-
NM_001374736.1(DST):c.19042T>G (p.Phe6348Val)667DSTUncertain significance-1RCV001986768; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637352456373524AC56373524-
NM_001374736.1(DST):c.19030G>A (p.Asp6344Asn)667DSTBenign-1RCV001420700|RCV001514392|RCV001534960; NMONDO: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:CN51720265637353656373536CT56373536-
NM_001374736.1(DST):c.19013-7T>C667DSTLikely benign-1RCV001430616; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637356056373560AG56373560-
NM_001374736.1(DST):c.19012+20G>T667DSTUncertain significance-1RCV001980153; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637442056374420CA56374420-
NM_001374736.1(DST):c.19009A>G (p.Lys6337Glu)667DSTUncertain significancers2096426641RCV001326609; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637444356374443TC56374443-
NM_001374736.1(DST):c.19001T>C (p.Ile6334Thr)667DSTUncertain significance-1RCV001988696; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637445156374451AG56374451-
NM_001374736.1(DST):c.18962A>G (p.Glu6321Gly)667DSTUncertain significance-1RCV002008030; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637449056374490TC56374490-
NM_001374736.1(DST):c.18938A>G (p.Tyr6313Cys)667DSTUncertain significancers781596409RCV001239300; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637451456374514TC6:g.56374514T>C-
NM_001374736.1(DST):c.18921A>G (p.Glu6307=)667DSTLikely benign-1RCV001450322; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637453156374531TC56374531-
NM_001374736.1(DST):c.18918G>C (p.Met6306Ile)667DSTUncertain significance-1RCV001921068; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637453456374534CG56374534-
NM_001374736.1(DST):c.18917T>C (p.Met6306Thr)667DSTUncertain significancers771484088RCV001297034; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637453556374535AG56374535-
NM_001374736.1(DST):c.18908C>T (p.Ser6303Leu)667DSTUncertain significancers775490741RCV001242625; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637454456374544GA6:g.56374544G>A-
NM_001374736.1(DST):c.18890G>T (p.Ser6297Ile)667DSTUncertain significancers2096429215RCV001240213; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637456256374562CA6:g.56374562C>A-
NM_001374736.1(DST):c.18888C>T (p.Ile6296=)667DSTLikely benign-1RCV001441421; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637456456374564GA56374564-
NM_001374736.1(DST):c.18883C>G (p.Gln6295Glu)667DSTUncertain significancers2096429659RCV001351072; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637456956374569GC56374569-
NM_001374736.1(DST):c.18882A>G (p.Glu6294=)667DSTLikely benign-1RCV001432501; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637457056374570TC56374570-
NM_001374736.1(DST):c.18849C>G (p.Pro6283=)667DSTLikely benign-1RCV001482930; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637460356374603GC56374603-
NM_001374736.1(DST):c.18847C>A (p.Pro6283Thr)667DSTUncertain significancers2096430348RCV001244545; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637460556374605GT6:g.56374605G>T-
NM_001374736.1(DST):c.18838A>C (p.Arg6280=)667DSTLikely benign-1RCV001420016; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637461456374614TG56374614-
NM_001374736.1(DST):c.18836T>A (p.Leu6279Gln)667DSTUncertain significance-1RCV001934242; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637461656374616AT56374616-
NM_001374736.1(DST):c.18826G>A (p.Val6276Met)667DSTUncertain significancers377620360RCV001245645; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637462656374626CT6:g.56374626C>T-
NM_001374736.1(DST):c.18825C>T (p.Ile6275=)667DSTLikely benign-1RCV001402494; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637462756374627GA56374627-
NM_001374736.1(DST):c.18820C>T (p.Arg6274Cys)667DSTUncertain significance-1RCV001922266; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637463256374632GA56374632-
NM_001374736.1(DST):c.18801G>T (p.Gln6267His)667DSTUncertain significancers778466743RCV001344285; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637465156374651CA56374651-
NM_001374736.1(DST):c.18788A>G (p.Asp6263Gly)667DSTUncertain significance-1RCV001915993; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637466456374664TC56374664-
NM_001374736.1(DST):c.18780+20A>G667DSTLikely benign-1RCV002213461; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637597556375975TC56375975-
NM_001374736.1(DST):c.18780+14C>G667DSTLikely benign-1RCV001956711; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637598156375981GC56375981-
NM_001374736.1(DST):c.18777T>C (p.Thr6259=)667DSTLikely benign-1RCV002209022; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637599856375998AG56375998-
NM_001374736.1(DST):c.18775A>G (p.Thr6259Ala)667DSTUncertain significance-1RCV002004924; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637600056376000TC56376000-
NM_001374736.1(DST):c.18771A>G (p.Gln6257=)667DSTLikely benign-1RCV002116762; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637600456376004TC56376004-
NM_001374736.1(DST):c.18754G>A (p.Asp6252Asn)667DSTLikely benign-1RCV001441806; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637602156376021CT56376021-
NM_001374736.1(DST):c.18750A>G (p.Ala6250=)667DSTLikely benign-1RCV002088657; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637602556376025TC56376025-
NM_001374736.1(DST):c.18747G>A (p.Val6249=)667DSTLikely benign-1RCV001465895; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637602856376028CT56376028-
NM_001374736.1(DST):c.18740G>A (p.Arg6247His)667DSTUncertain significancers368560111RCV001244949; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637603556376035CT6:g.56376035C>T-
NM_001374736.1(DST):c.18739C>T (p.Arg6247Cys)667DSTUncertain significance-1RCV001926296; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637603656376036GA56376036-
NM_001374736.1(DST):c.18715C>T (p.Gln6239Ter)667DSTPathogenicrs2096469777RCV001248592; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637606056376060GA6:g.56376060G>A-
NM_001374736.1(DST):c.18702C>T (p.Asp6234=)667DSTLikely benign-1RCV001483483; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637607356376073GA56376073-
NM_001374736.1(DST):c.18701A>G (p.Asp6234Gly)667DSTUncertain significance-1RCV001359473; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637607456376074TC56376074-
NM_001374736.1(DST):c.18700G>A (p.Asp6234Asn)667DSTUncertain significancers753185411RCV001295126; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637607556376075CT56376075-
NM_001374736.1(DST):c.18699C>T (p.Ala6233=)667DSTLikely benignrs373689917RCV000979184; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637607656376076GA6:g.56376076G>A-
NM_001374736.1(DST):c.18695C>T (p.Ala6232Val)667DSTUncertain significance-1RCV001373937; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637608056376080GA56376080-
NM_001374736.1(DST):c.18684G>A (p.Glu6228=)667DSTBenign-1RCV001514395|RCV001615189; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265637609156376091CT56376091-
NM_001374736.1(DST):c.18673T>G (p.Ser6225Ala)667DSTUncertain significancers1033335791RCV001242564; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637610256376102AC6:g.56376102A>C-
NM_001374736.1(DST):c.18625A>T (p.Asn6209Tyr)667DSTUncertain significance-1RCV002020718; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637615056376150TA56376150-
NM_001374736.1(DST):c.18621G>A (p.Lys6207=)667DSTLikely benignrs1583547445RCV000979092|RCV001410503; NMedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637615456376154CT6:g.56376154C>T-
NM_001374736.1(DST):c.18606G>A (p.Lys6202=)667DSTLikely benign-1RCV001502455; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637616956376169CT56376169-
NM_001374736.1(DST):c.18601C>T (p.His6201Tyr)667DSTUncertain significancers371649829RCV001295125; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637617456376174GA56376174-
NM_001374736.1(DST):c.18597T>C (p.Ala6199=)667DSTLikely benign-1RCV001457942; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637617856376178AG56376178-
NM_001374736.1(DST):c.18589T>C (p.Leu6197=)667DSTLikely benign-1RCV001466350; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637618656376186AG56376186-
NM_001374736.1(DST):c.18577-3T>C667DSTUncertain significance-1RCV001921397; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637620156376201AG56376201-
NM_001374736.1(DST):c.18576+10G>A667DSTLikely benign-1RCV002164397; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638023856380238CT56380238-
NM_001374736.1(DST):c.18576G>A (p.Arg6192=)667DSTUncertain significancers2096570211RCV001238912; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638024856380248CT6:g.56380248C>T-
NM_001374736.1(DST):c.18571C>T (p.His6191Tyr)667DSTUncertain significancers764457552RCV001349556; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638025356380253GA56380253-
NM_001374736.1(DST):c.18568G>A (p.Glu6190Lys)667DSTUncertain significancers754382598RCV001245921; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165638025656380256CT6:g.56380256C>T-
NM_001374736.1(DST):c.18543T>C (p.Tyr6181=)667DSTLikely benign-1RCV002218689; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165638028156380281AG56380281-
NM_001374736.1(DST):c.18526G>A (p.Ala6176Thr)667DSTUncertain significancers540680338RCV001239734; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638029856380298CT6:g.56380298C>T-
NM_001374736.1(DST):c.18525C>T (p.Pro6175=)667DSTLikely benign-1RCV001445439; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638029956380299GA56380299-
NM_001374736.1(DST):c.18513C>G (p.Ile6171Met)667DSTUncertain significancers1029481180RCV001242562; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165638031156380311GC6:g.56380311G>C-
NM_001374736.1(DST):c.18511A>G (p.Ile6171Val)667DSTUncertain significance-1RCV001864614; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165638031356380313TC56380313-
NM_001374736.1(DST):c.18508A>G (p.Ile6170Val)667DSTUncertain significancers374091334RCV001342561; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165638031656380316TC56380316-
NM_001374736.1(DST):c.18489G>C (p.Trp6163Cys)667DSTUncertain significance-1RCV001870366; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638033556380335CG56380335-
NM_001374736.1(DST):c.18480T>C (p.Leu6160=)667DSTLikely benign-1RCV001470426; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638034456380344AG56380344-
NM_001374736.1(DST):c.18478C>T (p.Leu6160Phe)667DSTUncertain significance-1RCV001363264; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165638034656380346GA56380346-
NM_001374736.1(DST):c.18472G>A (p.Glu6158Lys)667DSTUncertain significancers955207101RCV001322995; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165638035256380352CT56380352-
NM_001374736.1(DST):c.18448G>A (p.Val6150Ile)667DSTUncertain significance-1RCV001367337; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638037656380376CT56380376-
NM_001374736.1(DST):c.18439C>T (p.Gln6147Ter)667DSTPathogenic-1RCV002035254; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638038556380385GA56380385-
NM_001374736.1(DST):c.18433C>T (p.Arg6145Trp)667DSTConflicting interpretations of pathogenicityrs193252082RCV000981886|RCV001200472; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265638039156380391GA6:g.56380391G>A-
NM_001374736.1(DST):c.18432A>G (p.Glu6144=)667DSTLikely benign-1RCV002081050; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165638039256380392TC56380392-
NM_001374736.1(DST):c.18404T>G (p.Ile6135Ser)667DSTUncertain significancers760688522RCV000815504; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638042056380420AC6:g.56380420A>C-
NM_001374736.1(DST):c.18397T>A (p.Cys6133Ser)667DSTBenign/Likely benignrs75105686RCV000979017|RCV001766800; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265638042756380427AT6:g.56380427A>T-
NM_001374736.1(DST):c.18392C>A (p.Thr6131Asn)667DSTUncertain significance-1RCV002050416; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165638043256380432GT56380432-
NM_001374736.1(DST):c.18381G>C (p.Lys6127Asn)667DSTUncertain significance-1RCV001998379; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165638044356380443CG56380443-
NM_001374736.1(DST):c.18373G>A (p.Val6125Ile)667DSTUncertain significance-1RCV001929021; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165638045156380451CT56380451-
NM_001374736.1(DST):c.18358-13T>C667DSTLikely benign-1RCV002093874; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165638047956380479AG56380479-
NM_001374736.1(DST):c.18358-16T>C667DSTBenign-1RCV002180388; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638048256380482AG56380482-
NM_001374736.1(DST):c.18358-20T>G667DSTLikely benign-1RCV001960595; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638048656380486AC56380486-
NM_001374736.1(DST):c.18357+15G>A667DSTLikely benign-1RCV002087111; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165638198156381981CT56381981-
NM_001374736.1(DST):c.18357+5A>C667DSTUncertain significance-1RCV001977094; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638199156381991TG56381991-
NM_001374736.1(DST):c.18351A>C (p.Ser6117=)667DSTLikely benign-1RCV002210258; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165638200256382002TG56382002-
NM_001374736.1(DST):c.18348A>G (p.Gln6116=)667DSTLikely benign-1RCV001467253; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638200556382005TC56382005-
NM_001374736.1(DST):c.18325G>A (p.Ala6109Thr)667DSTUncertain significance-1RCV001968037; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638202856382028CT56382028-
NM_001374736.1(DST):c.18324C>T (p.Thr6108=)667DSTLikely benign-1RCV001448866; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165638202956382029GA56382029-
NM_001374736.1(DST):c.18298G>A (p.Val6100Ile)667DSTUncertain significance-1RCV001877092; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638205556382055CT56382055-
NM_001374736.1(DST):c.18276C>G (p.His6092Gln)667DSTUncertain significancers747211113RCV001245858; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165638207756382077GC6:g.56382077G>C-
NM_001374736.1(DST):c.18257C>T (p.Thr6086Ile)667DSTUncertain significancers769780483RCV001245855; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165638209656382096GA6:g.56382096G>A-
NM_001374736.1(DST):c.18253T>C (p.Phe6085Leu)667DSTUncertain significancers370466372RCV001322522; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638210056382100AG56382100-
NM_001374736.1(DST):c.18250A>G (p.Thr6084Ala)667DSTUncertain significancers749880417RCV001341002; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638210356382103TC56382103-
NM_001374736.1(DST):c.18250-7A>T667DSTLikely benign-1RCV001452163; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638211056382110TA56382110-
NM_001374736.1(DST):c.18250-11G>A667DSTLikely benign-1RCV002153282; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638211456382114CT56382114-
NM_001374736.1(DST):c.18250-11G>T667DSTLikely benign-1RCV002099394; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165638211456382114CA56382114-
NM_001374736.1(DST):c.18249+10T>C667DSTLikely benign-1RCV001408530; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638228956382289AG56382289-
NM_001374736.1(DST):c.18249+3G>A667DSTUncertain significancers200813187RCV001246798; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165638229656382296CT6:g.56382296C>T-
NM_001374736.1(DST):c.18219C>T (p.Asp6073=)667DSTLikely benign-1RCV002207278; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638232956382329GA56382329-
NM_001374736.1(DST):c.18213G>T (p.Glu6071Asp)667DSTUncertain significancers373876039RCV001243366; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165638233556382335CA6:g.56382335C>A-
NM_001374736.1(DST):c.18178A>G (p.Lys6060Glu)667DSTUncertain significance-1RCV001948836; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165638237056382370TC56382370-
NM_001374736.1(DST):c.18177A>T (p.Glu6059Asp)667DSTUncertain significancers1275339494RCV001238970; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638237156382371TA6:g.56382371T>A-
NM_001374736.1(DST):c.18146A>G (p.Asp6049Gly)667DSTUncertain significancers1172615642RCV001295572; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165638240256382402TC56382402-
NM_001374736.1(DST):c.18135C>G (p.Asp6045Glu)667DSTUncertain significancers368605712RCV001248664; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638241356382413GC6:g.56382413G>C-
NM_001374736.1(DST):c.18129+12T>C667DSTLikely benign-1RCV002216676; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639114756391147AG56391147-
NM_001374736.1(DST):c.18123A>G (p.Ser6041=)667DSTLikely benign-1RCV002160837; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639116556391165TC56391165-
NM_001374736.1(DST):c.18119G>A (p.Arg6040Gln)667DSTUncertain significance-1RCV001984772; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639116956391169CT56391169-
NM_001374736.1(DST):c.18117G>T (p.Leu6039=)667DSTLikely benign-1RCV002154305; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639117156391171CA56391171-
NM_001374736.1(DST):c.18105T>C (p.Asp6035=)667DSTBenignrs148368712RCV000979019|RCV001638025; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265639118356391183AG6:g.56391183A>G-
NM_001374736.1(DST):c.18102C>T (p.Ile6034=)667DSTLikely benign-1RCV001456513; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639118656391186GA56391186-
NM_001374736.1(DST):c.18091G>A (p.Val6031Met)667DSTUncertain significancers1164812960RCV001241933; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639119756391197CT6:g.56391197C>T-
NM_001374736.1(DST):c.18082A>G (p.Thr6028Ala)667DSTUncertain significancers757401983RCV001309752; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639120656391206TC56391206-
NM_001374736.1(DST):c.18081C>T (p.Ile6027=)667DSTLikely benign-1RCV001428425; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639120756391207GA56391207-
NM_001374736.1(DST):c.18076A>G (p.Thr6026Ala)667DSTUncertain significance-1RCV002007808; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639121256391212TC56391212-
NM_001374736.1(DST):c.18072C>T (p.Ser6024=)667DSTLikely benign-1RCV001500297; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639121656391216GA56391216-
NM_001374736.1(DST):c.18071G>A (p.Ser6024Asn)667DSTUncertain significance-1RCV001361395; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639121756391217CT56391217-
NM_001374736.1(DST):c.18065T>C (p.Leu6022Ser)667DSTUncertain significancers2096797952RCV001247512; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639122356391223AG6:g.56391223A>G-
NM_001374736.1(DST):c.18062G>A (p.Arg6021Gln)667DSTUncertain significancers755338488RCV001247062; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639122656391226CT6:g.56391226C>T-
NM_001374736.1(DST):c.18061C>T (p.Arg6021Ter)667DSTPathogenic-1RCV001960697; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639122756391227GA56391227-
NM_001374736.1(DST):c.18056G>A (p.Arg6019His)667DSTUncertain significancers745991437RCV001243432; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639123256391232CT6:g.56391232C>T-
NM_001374736.1(DST):c.18050A>G (p.Asn6017Ser)667DSTUncertain significance-1RCV002038212; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639123856391238TC56391238-
NM_001374736.1(DST):c.18047A>G (p.Asp6016Gly)667DSTUncertain significancers1444942164RCV000625439|RCV001700278|RCV001347780; NMONDO: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:31438165639124156391241TC6:g.56391241T>CClinGen:CA364505744C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.18039A>G (p.Val6013=)667DSTLikely benign-1RCV001495432; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639124956391249TC56391249-
NM_001374736.1(DST):c.18036G>A (p.Met6012Ile)667DSTUncertain significance-1RCV002029311; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639125256391252CT56391252-
NM_001374736.1(DST):c.18023G>A (p.Gly6008Glu)667DSTUncertain significancers746414483RCV001240274; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639126556391265CT6:g.56391265C>T-
NM_001374736.1(DST):c.18008G>A (p.Trp6003Ter)667DSTPathogenicrs2096799052RCV001242502; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639128056391280CT6:g.56391280C>T-
NM_001374736.1(DST):c.18005C>T (p.Pro6002Leu)667DSTUncertain significance-1RCV001896763; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639128356391283GA56391283-
NM_001374736.1(DST):c.18001G>A (p.Val6001Ile)667DSTUncertain significance-1RCV002001922; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639128756391287CT56391287-
NM_001374736.1(DST):c.17974G>A (p.Glu5992Lys)667DSTUncertain significancers1272059049RCV001348084; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639131456391314CT56391314-
NM_001374736.1(DST):c.17968C>G (p.Leu5990Val)667DSTUncertain significance-1RCV002026188; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639132056391320GC56391320-
NM_001374736.1(DST):c.17948A>G (p.Asn5983Ser)667DSTUncertain significancers201492565RCV001241249; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639134056391340TC6:g.56391340T>C-
NM_001374736.1(DST):c.17942A>G (p.Lys5981Arg)667DSTUncertain significancers2096799768RCV001246527; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639134656391346TC6:g.56391346T>C-
NM_001374736.1(DST):c.17940T>G (p.Ala5980=)667DSTLikely benign-1RCV002206154; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639134856391348AC56391348-
NM_001374736.1(DST):c.17939C>G (p.Ala5980Gly)667DSTUncertain significance-1RCV001865193; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639134956391349GC56391349-
NM_001374736.1(DST):c.17928G>A (p.Leu5976=)667DSTLikely benign-1RCV002103418; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639136056391360CT56391360-
NM_001374736.1(DST):c.17923G>A (p.Glu5975Lys)667DSTUncertain significancers371243432RCV001248190; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639136556391365CT6:g.56391365C>T-
NM_001374736.1(DST):c.17923-2A>G667DSTLikely pathogenic-1RCV001998586; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639136756391367TC56391367-
NM_001374736.1(DST):c.17923-10A>G667DSTBenignrs116504133RCV000979020|RCV001541838; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265639137556391375TC6:g.56391375T>C-
NM_001374736.1(DST):c.17922+3A>G667DSTUncertain significancers370384005RCV001297856; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639228856392288TC56392288-
NM_001374736.1(DST):c.17922G>A (p.Lys5974=)667DSTUncertain significance-1RCV001979831; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639229156392291CT56392291-
NM_001374736.1(DST):c.17894A>C (p.Glu5965Ala)667DSTUncertain significance-1RCV002037357; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639231956392319TG56392319-
NM_001374736.1(DST):c.17889A>T (p.Gly5963=)667DSTUncertain significance-1RCV001982724; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639232456392324TA56392324-
NM_001374736.1(DST):c.17880T>G (p.Val5960=)667DSTLikely benign-1RCV002158004; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639233356392333AC56392333-
NM_001374736.1(DST):c.17831C>T (p.Thr5944Ile)667DSTUncertain significance-1RCV002022639; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639238256392382GA56392382-
NM_001374736.1(DST):c.17830A>G (p.Thr5944Ala)667DSTUncertain significancers1252419878RCV001245919; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639238356392383TC6:g.56392383T>C-
NM_001374736.1(DST):c.17828G>A (p.Cys5943Tyr)667DSTUncertain significance-1RCV001919207; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639238556392385CT56392385-
NM_001374736.1(DST):c.17817C>T (p.His5939=)667DSTLikely benign-1RCV001431537; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639239656392396GA56392396-
NM_001374736.1(DST):c.17807A>G (p.His5936Arg)667DSTUncertain significance-1RCV002046713; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639240656392406TC56392406-
NM_001374736.1(DST):c.17804T>A (p.Leu5935Gln)667DSTUncertain significancers763300533RCV001239233|RCV001507672; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265639240956392409AT6:g.56392409A>T-
NM_001374736.1(DST):c.17801G>A (p.Arg5934Gln)667DSTUncertain significancers537793986RCV001240069; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639241256392412CT6:g.56392412C>T-
NM_001374736.1(DST):c.17800C>T (p.Arg5934Trp)667DSTUncertain significance-1RCV001866996; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639241356392413GA56392413-
NM_001374736.1(DST):c.17784G>A (p.Ala5928=)667DSTLikely benign-1RCV001405653; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639242956392429CT56392429-
NM_001374736.1(DST):c.17783C>T (p.Ala5928Val)667DSTUncertain significancers764588106RCV001297622; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639243056392430GA56392430-
NM_001374736.1(DST):c.17773C>G (p.Leu5925Val)667DSTUncertain significance-1RCV001990176; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639244056392440GC56392440-
NM_001374736.1(DST):c.17772T>A (p.Thr5924=)667DSTLikely benign-1RCV002145652; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639244156392441AT56392441-
NM_001374736.1(DST):c.17764G>A (p.Ala5922Thr)667DSTUncertain significance-1RCV001795519|RCV002034653; NMedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639244956392449CT56392449-
NM_001374736.1(DST):c.17730G>A (p.Arg5910=)667DSTLikely benign-1RCV001474916; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639248356392483CT56392483-
NM_001374736.1(DST):c.17696T>C (p.Ile5899Thr)667DSTUncertain significance-1RCV002026256; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639251756392517AG56392517-
NM_001374736.1(DST):c.17683G>C (p.Asp5895His)667DSTUncertain significance-1RCV001864475; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639253056392530CG56392530-
NM_001374736.1(DST):c.17681-19C>T667DSTLikely benign-1RCV002098580; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639255156392551GA56392551-
NM_001374736.1(DST):c.17671C>G (p.Gln5891Glu)667DSTUncertain significancers757060967RCV001338338; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639364856393648GC56393648-
NM_001374736.1(DST):c.17658A>G (p.Leu5886=)667DSTLikely benign-1RCV002178278; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639366156393661TC56393661-
NM_001374736.1(DST):c.17645T>C (p.Leu5882Ser)667DSTUncertain significancers2096847724RCV001246726; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639367456393674AG6:g.56393674A>G-
NM_001374736.1(DST):c.17627A>G (p.Gln5876Arg)667DSTUncertain significance-1RCV001879108; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639369256393692TC56393692-
NM_001374736.1(DST):c.17603A>C (p.Gln5868Pro)667DSTUncertain significancers769166134RCV001343807; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639371656393716TG56393716-
NM_001374736.1(DST):c.17601G>T (p.Leu5867=)667DSTLikely benign-1RCV002141733; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639371856393718CA56393718-
NM_001374736.1(DST):c.17596-11T>C667DSTLikely benign-1RCV002146407; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639373456393734AG56393734-
NM_001374736.1(DST):c.17596-15T>C667DSTLikely benign-1RCV002212775; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639373856393738AG56393738-
NM_001374736.1(DST):c.17595+1G>A667DSTLikely pathogenicrs2096858510RCV001243780; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639424556394245CT6:g.56394245C>T-
NM_001374736.1(DST):c.17595G>C (p.Arg5865=)667DSTUncertain significancers2096858541RCV001346795; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639424656394246CG56394246-
NM_001374736.1(DST):c.17593C>T (p.Arg5865Trp)667DSTUncertain significancers766911461RCV001298114; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639424856394248GA56394248-
NM_001374736.1(DST):c.17582A>G (p.Gln5861Arg)667DSTUncertain significance-1RCV001945287; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639425956394259TC56394259-
NM_001374736.1(DST):c.17577G>A (p.Lys5859=)667DSTLikely benign-1RCV002138608; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639426456394264CT56394264-
NM_001374736.1(DST):c.17568G>A (p.Gly5856=)667DSTLikely benign-1RCV001475184; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639427356394273CT56394273-
NM_001374736.1(DST):c.17555A>G (p.Tyr5852Cys)667DSTUncertain significancers757046386RCV001245507; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639428656394286TC6:g.56394286T>C-
NM_001374736.1(DST):c.17551G>T (p.Asp5851Tyr)667DSTUncertain significancers180773742RCV001243701; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639429056394290CA6:g.56394290C>A-
NM_001374736.1(DST):c.17551G>A (p.Asp5851Asn)667DSTUncertain significance-1RCV002021227; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639429056394290CT56394290-
NM_001374736.1(DST):c.17547C>T (p.Val5849=)667DSTLikely benign-1RCV001474380; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639429456394294GA56394294-
NM_001374736.1(DST):c.17522A>C (p.His5841Pro)667DSTUncertain significancers758568001RCV001294790; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639431956394319TG56394319-
NM_001374736.1(DST):c.17522A>T (p.His5841Leu)667DSTLikely benign-1RCV001438228; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639431956394319TA56394319-
NM_001374736.1(DST):c.17520G>A (p.Val5840=)667DSTLikely benign-1RCV001457904; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639432156394321CT56394321-
NM_001374736.1(DST):c.17519T>G (p.Val5840Gly)667DSTUncertain significance-1RCV001948839; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639432256394322AC56394322-
NM_001374736.1(DST):c.17505C>T (p.Asn5835=)667DSTLikely benign-1RCV002096387; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639433656394336GA56394336-
NM_001374736.1(DST):c.17496A>C (p.Glu5832Asp)667DSTUncertain significancers773757881RCV001319752; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639434556394345TG56394345-
NM_001374736.1(DST):c.17489A>C (p.Glu5830Ala)667DSTUncertain significancers373654920RCV001308753; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639435256394352TG56394352-
NM_001374736.1(DST):c.17450A>G (p.Gln5817Arg)667DSTUncertain significancers761791970RCV001245163; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639439156394391TC6:g.56394391T>C-
NM_001374736.1(DST):c.17450A>T (p.Gln5817Leu)667DSTUncertain significance-1RCV001903848; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639439156394391TA56394391-
NM_001374736.1(DST):c.17443C>A (p.Leu5815Ile)667DSTUncertain significancers750180346RCV001298746; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639439856394398GT56394398-
NM_001374736.1(DST):c.17397A>C (p.Gln5799His)667DSTUncertain significance-1RCV001872772; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639444456394444TG56394444-
NM_001374736.1(DST):c.17386G>A (p.Asp5796Asn)667DSTUncertain significancers186699708RCV001246802; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639445556394455CT6:g.56394455C>T-
NM_001374736.1(DST):c.17385A>G (p.Leu5795=)667DSTLikely benign-1RCV002102415; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639445656394456TC56394456-
NM_001374736.1(DST):c.17378G>A (p.Ser5793Asn)667DSTUncertain significancers369521830RCV001241063; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639446356394463CT6:g.56394463C>T-
NM_001374736.1(DST):c.17365G>A (p.Asp5789Asn)667DSTUncertain significance-1RCV001910818; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639447656394476CT56394476-
NM_001374736.1(DST):c.17340G>A (p.Lys5780=)667DSTLikely benign-1RCV001417146; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639450156394501CT56394501-
NM_001374736.1(DST):c.17326G>C (p.Gly5776Arg)667DSTUncertain significance-1RCV002046481; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639451556394515CG56394515-
NM_001374736.1(DST):c.17310C>A (p.His5770Gln)667DSTUncertain significancers751772852RCV001295129; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639453156394531GT56394531-
NM_001374736.1(DST):c.17308C>T (p.His5770Tyr)667DSTUncertain significance-1RCV002017129; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639453356394533GA56394533-
NM_001374736.1(DST):c.17303A>G (p.His5768Arg)667DSTUncertain significancers755202054RCV001246192; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639453856394538TC6:g.56394538T>C-
NM_001374736.1(DST):c.17280T>C (p.Asp5760=)667DSTLikely benign-1RCV001477059; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639456156394561AG56394561-
NM_001374736.1(DST):c.17269-3T>A667DSTUncertain significancers373884076RCV001245303; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639457556394575AT6:g.56394575A>T-
NM_001374736.1(DST):c.17268+7T>C667DSTLikely benign-1RCV001494877; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639476556394765AG56394765-
NM_001374736.1(DST):c.17268+6A>G667DSTUncertain significancers2096867211RCV001243905; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639476656394766TC6:g.56394766T>C-
NM_001374736.1(DST):c.17251C>T (p.Gln5751Ter)667DSTPathogenicrs2096867388RCV001247971; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639478956394789GA6:g.56394789G>A-
NM_001374736.1(DST):c.17235A>G (p.Ala5745=)667DSTLikely benign-1RCV001405652; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639480556394805TC56394805-
NM_001374736.1(DST):c.17234C>T (p.Ala5745Val)667DSTUncertain significancers1562586282RCV001246462; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639480656394806GA6:g.56394806G>A-
NM_001374736.1(DST):c.17232A>C (p.Gln5744His)667DSTUncertain significancers1156755669RCV001244814; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639480856394808TG6:g.56394808T>G-
NM_001374736.1(DST):c.17220C>T (p.Pro5740=)667DSTLikely benign-1RCV001498124; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639482056394820GA56394820-
NM_001374736.1(DST):c.17176G>A (p.Glu5726Lys)667DSTUncertain significancers774345974RCV001243903; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639486456394864CT6:g.56394864C>T-
NM_001374736.1(DST):c.17158A>G (p.Thr5720Ala)667DSTUncertain significancers761029398RCV001340947; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639488256394882TC56394882-
NM_001374736.1(DST):c.17157A>G (p.Glu5719=)667DSTLikely benign-1RCV001428971; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639488356394883TC56394883-
NM_001374736.1(DST):c.17153A>G (p.His5718Arg)667DSTUncertain significancers757364222RCV001239860; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639488756394887TC6:g.56394887T>C-
NM_001374736.1(DST):c.17143C>A (p.Gln5715Lys)667DSTUncertain significancers1562587802RCV001241128; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639489756394897GT6:g.56394897G>T-
NM_001374736.1(DST):c.17141C>T (p.Ala5714Val)667DSTUncertain significance-1RCV001974173; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639489956394899GA56394899-
NM_001374736.1(DST):c.17140G>A (p.Ala5714Thr)667DSTUncertain significancers1225545020RCV001240144; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639490056394900CT6:g.56394900C>T-
NM_001374736.1(DST):c.17133G>A (p.Ser5711=)667DSTLikely benign-1RCV001503881; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639490756394907CT56394907-
NM_001374736.1(DST):c.17133G>T (p.Ser5711=)667DSTLikely benign-1RCV002094607; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639490756394907CA56394907-
NM_001374736.1(DST):c.17128A>G (p.Ile5710Val)667DSTUncertain significance-1RCV002029303; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639491256394912TC56394912-
NM_001374736.1(DST):c.17123A>G (p.Glu5708Gly)667DSTUncertain significancers894146699RCV001239858; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639491756394917TC6:g.56394917T>C-
NM_001374736.1(DST):c.17113C>T (p.Arg5705Cys)667DSTUncertain significancers979136179RCV001241061; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639492756394927GA6:g.56394927G>A-
NM_001374736.1(DST):c.17109-9C>T667DSTLikely benign-1RCV001503851; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639494056394940GA56394940-
NM_001374736.1(DST):c.17109-12G>A667DSTLikely benign-1RCV002179434; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639494356394943CT56394943-
NM_001374736.1(DST):c.17108+10A>G667DSTBenignrs191140581RCV000979022|RCV001729774; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265639713256397132TC6:g.56397132T>C-
NM_001374736.1(DST):c.17108+9T>C667DSTLikely benign-1RCV001494879; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639713356397133AG56397133-
NM_001374736.1(DST):c.17108+6T>C667DSTUncertain significancers375166905RCV001246649; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639713656397136AG6:g.56397136A>G-
NM_001374736.1(DST):c.17105C>T (p.Thr5702Ile)667DSTUncertain significance-1RCV001913819; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639714556397145GA56397145-
NM_001374736.1(DST):c.17086T>C (p.Leu5696=)667DSTLikely benign-1RCV001457427; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639716456397164AG56397164-
NM_001374736.1(DST):c.17082G>A (p.Glu5694=)667DSTLikely benign-1RCV001502483; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639716856397168CT56397168-
NM_001374736.1(DST):c.17070T>C (p.Asp5690=)667DSTLikely benign-1RCV001393321; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639718056397180AG56397180-
NM_001374736.1(DST):c.17044A>G (p.Ile5682Val)667DSTUncertain significance-1RCV001928127; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639720656397206TC56397206-
NM_001374736.1(DST):c.17030C>T (p.Ala5677Val)667DSTBenignrs145976321RCV000979021|RCV001597237; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265639722056397220GA6:g.56397220G>A-
NM_001374736.1(DST):c.17028C>G (p.Pro5676=)667DSTLikely benign-1RCV002214822; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639722256397222GC56397222-
NM_001374736.1(DST):c.17011G>A (p.Ala5671Thr)667DSTUncertain significancers1584257296RCV001350101; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639723956397239CT56397239-
NM_001374736.1(DST):c.16977G>A (p.Thr5659=)667DSTLikely benign-1RCV001467257; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639727356397273CT56397273-
NM_001374736.1(DST):c.16967G>A (p.Arg5656Gln)667DSTConflicting interpretations of pathogenicityrs116774070RCV000998630|RCV001449325; NMedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639728356397283CT6:g.56397283C>T-
NM_001374736.1(DST):c.16956G>T (p.Leu5652Phe)667DSTUncertain significancers371645175RCV001248336; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639729456397294CA6:g.56397294C>A-
NM_001374736.1(DST):c.16956G>A (p.Leu5652=)667DSTLikely benign-1RCV001478760; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639729456397294CT56397294-
NM_001374736.1(DST):c.16942-10T>C667DSTLikely benign-1RCV001463791; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639731856397318AG56397318-
NM_001374736.1(DST):c.16941+9G>T667DSTLikely benign-1RCV002215863; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639991156399911CA56399911-
NM_001374736.1(DST):c.16941+4A>G667DSTUncertain significancers76350521RCV001242387; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639991656399916TC6:g.56399916T>C-
NM_001374736.1(DST):c.16922C>T (p.Ala5641Val)667DSTUncertain significancers768150254RCV000998631|RCV001243637; NMedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639993956399939GA6:g.56399939G>A-
NM_001374736.1(DST):c.16914G>A (p.Val5638=)667DSTLikely benign-1RCV001483484; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639994756399947CT56399947-
NM_001374736.1(DST):c.16895C>T (p.Pro5632Leu)667DSTUncertain significancers1178200177RCV001347358; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639996656399966GA56399966-
NM_001374736.1(DST):c.16889A>G (p.Lys5630Arg)667DSTUncertain significancers1236590396RCV001318470; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639997256399972TC56399972-
NM_001374736.1(DST):c.16883A>C (p.Asn5628Thr)667DSTUncertain significance-1RCV001904004; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639997856399978TG56399978-
NM_001374736.1(DST):c.16859T>C (p.Val5620Ala)667DSTUncertain significancers200036988RCV001296004; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165640000256400002AG56400002-
NM_001374736.1(DST):c.16858del (p.Val5620fs)667DSTPathogenicrs1584328172RCV000824024; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165640000356400003ACA6:g.56400003_56400003del-
NM_001374736.1(DST):c.16858G>A (p.Val5620Met)667DSTUncertain significancers371837412RCV001245651; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165640000356400003CT6:g.56400003C>T-
NM_001374736.1(DST):c.16857G>A (p.Met5619Ile)667DSTUncertain significance-1RCV002042208; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165640000456400004CT56400004-
NM_001374736.1(DST):c.16824C>G (p.Phe5608Leu)667DSTUncertain significance-1RCV001361894; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165640003756400037GC56400037-
NM_001374736.1(DST):c.16814G>C (p.Cys5605Ser)667DSTUncertain significancers1198301994RCV001240212; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165640004756400047CG6:g.56400047C>G-
NM_001374736.1(DST):c.16814G>A (p.Cys5605Tyr)667DSTUncertain significance-1RCV001896125; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165640004756400047CT56400047-
NM_001374736.1(DST):c.16799A>G (p.Glu5600Gly)667DSTUncertain significance-1RCV001870083; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165640006256400062TC56400062-
NM_001374736.1(DST):c.16788C>T (p.Ala5596=)667DSTLikely benign-1RCV001479846; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165640007356400073GA56400073-
NM_001374736.1(DST):c.16786G>A (p.Ala5596Thr)667DSTUncertain significancers2096973219RCV001240991; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165640007556400075CT6:g.56400075C>T-
NM_001374736.1(DST):c.16781G>A (p.Arg5594Gln)667DSTUncertain significancers766153258RCV001316610; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165640008056400080CT56400080-
NM_001374736.1(DST):c.16780C>T (p.Arg5594Ter)667DSTPathogenic-1RCV001386390; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165640008156400081GA56400081-
NM_001374736.1(DST):c.16772T>C (p.Val5591Ala)667DSTUncertain significance-1RCV001937861; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165640008956400089AG56400089-
NM_001374736.1(DST):c.16771-11G>A667DSTLikely benign-1RCV002156484; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165640010156400101CT56400101-
NM_001374736.1(DST):c.16770+17del667DSTBenign-1RCV002127746; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165640156056401560AGA56401559-
NM_001374736.1(DST):c.16770+11C>T667DSTLikely benign-1RCV001941663; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165640156656401566GA56401566-
NM_001374736.1(DST):c.16770+9C>G667DSTLikely benign-1RCV002164834; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165640156856401568GC56401568-
NM_001374736.1(DST):c.16770+5T>C667DSTUncertain significance-1RCV001362114; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165640157256401572AG56401572-
NM_001374736.1(DST):c.16763A>G (p.Asn5588Ser)667DSTUncertain significance-1RCV001366281; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165640158456401584TC56401584-
NM_001374736.1(DST):c.16748G>A (p.Arg5583Gln)667DSTUncertain significancers762460799RCV001244751; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165640159956401599CT6:g.56401599C>T-
NM_001374736.1(DST):c.16747C>T (p.Arg5583Trp)667DSTUncertain significancers568055144RCV001311721|RCV001248337; NMedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165640160056401600GA6:g.56401600G>A-
NM_001374736.1(DST):c.16742A>G (p.Asn5581Ser)667DSTUncertain significancers201488187RCV001243842; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165640160556401605TC6:g.56401605T>C-
NM_001374736.1(DST):c.16701C>T (p.Ser5567=)667DSTLikely benign-1RCV001417331; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165640164656401646GA56401646-
NM_001374736.1(DST):c.16656T>C (p.Asp5552=)667DSTLikely benign-1RCV001436429; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165640169156401691AG56401691-
NM_001374736.1(DST):c.16653A>C (p.Gln5551His)667DSTLikely benign-1RCV002198283; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165640169456401694TG56401694-
NM_001374736.1(DST):c.16634C>A (p.Pro5545His)667DSTUncertain significancers776611722RCV001312948; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165640171356401713GT56401713-
NM_001374736.1(DST):c.16609G>T (p.Val5537Leu)667DSTUncertain significancers199836343RCV001243166; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165640173856401738CA6:g.56401738C>A-
NM_001374736.1(DST):c.16609-1G>T667DSTLikely pathogenic-1RCV001979595; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165640173956401739CA56401739-
NM_001374736.1(DST):c.16609-7A>C667DSTLikely benign-1RCV001478273; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165640174556401745TG56401745-
NM_001374736.1(DST):c.16609-14T>C667DSTLikely benign-1RCV002117534; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165640175256401752AG56401752-
NM_001374736.1(DST):c.16608+15A>G667DSTLikely benign-1RCV002137504; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641696756416967TC56416967-
NM_001374736.1(DST):c.16608+13T>C667DSTBenign-1RCV002086782; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641696956416969AG56416969-
NM_001374736.1(DST):c.16608+1G>A667DSTLikely pathogenic-1RCV002026258; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641698156416981CT56416981-
NM_001374736.1(DST):c.16592A>T (p.Gln5531Leu)667DSTUncertain significancers756517173RCV001243368; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641699856416998TA6:g.56416998T>A-
NM_001374736.1(DST):c.16579A>G (p.Thr5527Ala)667DSTUncertain significancers1350777647RCV001320750; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641701156417011TC56417011-
NM_001374736.1(DST):c.16575G>A (p.Thr5525=)667DSTBenignrs188035465RCV000979592; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641701556417015CT6:g.56417015C>T-
NM_001374736.1(DST):c.16574C>T (p.Thr5525Met)667DSTUncertain significancers756527130RCV001244421; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641701656417016GA6:g.56417016G>A-
NM_001374736.1(DST):c.16572A>G (p.Glu5524=)667DSTLikely benign-1RCV001400373; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641701856417018TC56417018-
NM_001374736.1(DST):c.16565G>A (p.Gly5522Asp)667DSTUncertain significance-1RCV001928882; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641702556417025CT56417025-
NM_001374736.1(DST):c.16562T>G (p.Val5521Gly)667DSTUncertain significancers746708808RCV000819971; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641702856417028AC6:g.56417028A>C-
NM_001374736.1(DST):c.16540C>G (p.His5514Asp)667DSTUncertain significance-1RCV001949889; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641705056417050GC56417050-
NM_001374736.1(DST):c.16534G>A (p.Glu5512Lys)667DSTUncertain significancers375888742RCV001245162; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641705656417056CT6:g.56417056C>T-
NM_001374736.1(DST):c.16533C>T (p.Ala5511=)667DSTLikely benign-1RCV002156179; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641705756417057GA56417057-
NM_001374736.1(DST):c.16498A>C (p.Lys5500Gln)667DSTUncertain significance-1RCV002001256; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641709256417092TG56417092-
NM_001374736.1(DST):c.16495A>T (p.Ser5499Cys)667DSTLikely benignrs180765536RCV000979078; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641709556417095TA6:g.56417095T>A-
NM_001374736.1(DST):c.16478G>A (p.Arg5493His)667DSTUncertain significancers754436072RCV001247704; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641711256417112CT6:g.56417112C>T-
NM_001374736.1(DST):c.16477C>T (p.Arg5493Cys)667DSTUncertain significancers186499004RCV001242954; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641711356417113GA6:g.56417113G>A-
NM_001374736.1(DST):c.16471A>G (p.Ile5491Val)667DSTUncertain significancers754589018RCV001239512; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641711956417119TC6:g.56417119T>C-
NM_001374736.1(DST):c.16465G>A (p.Gly5489Arg)667DSTUncertain significance-1RCV001359633; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641712556417125CT56417125-
NM_001374736.1(DST):c.16464A>C (p.Glu5488Asp)667DSTUncertain significancers2097339072RCV001241534; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641712656417126TG6:g.56417126T>G-
NM_001374736.1(DST):c.16435C>T (p.Arg5479Ter)667DSTPathogenic-1RCV001918214; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641715556417155GA56417155-
NM_001374736.1(DST):c.16409G>A (p.Ser5470Asn)667DSTUncertain significance-1RCV002047389; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641718156417181CT56417181-
NM_001374736.1(DST):c.16401G>A (p.Glu5467=)667DSTLikely benign-1RCV001490266; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641718956417189CT56417189-
NM_001374736.1(DST):c.16398G>A (p.Leu5466=)667DSTBenign-1RCV001514394|RCV001712921; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265641719256417192CT56417192-
NM_001374736.1(DST):c.16392G>A (p.Arg5464=)667DSTLikely benign-1RCV001493593; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641719856417198CT56417198-
NM_001374736.1(DST):c.16377T>C (p.Leu5459=)667DSTLikely benign-1RCV001484815; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641721356417213AG56417213-
NM_001374736.1(DST):c.16365C>T (p.Thr5455=)667DSTLikely benign-1RCV001418541; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641722556417225GA56417225-
NM_001374736.1(DST):c.16363A>T (p.Thr5455Ser)667DSTUncertain significancers1348429203RCV001242565; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641722756417227TA6:g.56417227T>A-
NM_001374736.1(DST):c.16342A>G (p.Met5448Val)667DSTUncertain significancers202185251RCV001248188; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641724856417248TC6:g.56417248T>C-
NM_001374736.1(DST):c.16328A>G (p.Asn5443Ser)667DSTUncertain significance-1RCV002038304; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641726256417262TC56417262-
NM_001374736.1(DST):c.16324G>A (p.Ala5442Thr)667DSTUncertain significance-1RCV001359110; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641726656417266CT56417266-
NM_001374736.1(DST):c.16323T>C (p.Asn5441=)667DSTBenign-1RCV001521193; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641726756417267AG56417267-
NM_001374736.1(DST):c.16314C>G (p.Ser5438Arg)667DSTUncertain significancers750722953RCV001323598; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641727656417276GC56417276-
NM_001374736.1(DST):c.16308G>A (p.Met5436Ile)667DSTBenignrs4715630RCV000603185|RCV001510448|RCV001692226|RCV001662662|RCV001701394; NMONDO: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|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615465641728256417282CT6:g.56417282C>TClinGen:CA3867697C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.16306A>T (p.Met5436Leu)667DSTUncertain significance-1RCV001363291; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641728456417284TA56417284-
NM_001374736.1(DST):c.16306A>C (p.Met5436Leu)667DSTUncertain significance-1RCV001986467; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641728456417284TG56417284-
NM_001374736.1(DST):c.16304T>C (p.Leu5435Pro)667DSTUncertain significance-1RCV001996814; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641728656417286AG56417286-
NM_001374736.1(DST):c.16298A>G (p.Glu5433Gly)667DSTUncertain significancers1275382438RCV001348816; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641729256417292TC56417292-
NM_001374736.1(DST):c.16236G>A (p.Gly5412=)667DSTLikely benign-1RCV001392407; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641735456417354CT56417354-
NM_001374736.1(DST):c.16235G>A (p.Gly5412Glu)667DSTUncertain significancers775546048RCV001320133; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641735556417355CT56417355-
NM_001374736.1(DST):c.16233G>C (p.Val5411=)667DSTLikely benign-1RCV001481965; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641735756417357CG56417357-
NM_001374736.1(DST):c.16221C>A (p.Ser5407Arg)667DSTUncertain significance-1RCV001369577; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641736956417369GT56417369-
NM_001374736.1(DST):c.16195G>A (p.Ala5399Thr)667DSTUncertain significancers553940584RCV001245229; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641739556417395CT6:g.56417395C>T-
NM_001374736.1(DST):c.16195G>T (p.Ala5399Ser)667DSTUncertain significancers553940584RCV001349226; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641739556417395CA56417395-
NM_001374736.1(DST):c.16194C>T (p.Phe5398=)667DSTLikely benign-1RCV001483486; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641739656417396GA56417396-
NM_001374736.1(DST):c.16179A>G (p.Glu5393=)667DSTLikely benign-1RCV002103722; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641741156417411TC56417411-
NM_001374736.1(DST):c.16175G>A (p.Arg5392Gln)667DSTUncertain significancers201501487RCV001245025; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641741556417415CT6:g.56417415C>T-
NM_001374736.1(DST):c.16174C>G (p.Arg5392Gly)667DSTUncertain significancers755738894RCV001246992; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641741656417416GC6:g.56417416G>C-
NM_001374736.1(DST):c.16174C>T (p.Arg5392Ter)667DSTPathogenic-1RCV001950928; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641741656417416GA56417416-
NM_001374736.1(DST):c.16169C>T (p.Thr5390Ile)667DSTUncertain significance-1RCV001962446; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641742156417421GA56417421-
NM_001374736.1(DST):c.16148G>A (p.Gly5383Asp)667DSTUncertain significancers1489999843RCV001320078; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641744256417442CT56417442-
NM_001374736.1(DST):c.16116A>G (p.Glu5372=)667DSTLikely benign-1RCV002210567; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641747456417474TC56417474-
NM_001374736.1(DST):c.16088A>G (p.His5363Arg)667DSTUncertain significance-1RCV001992856; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641750256417502TC56417502-
NM_001374736.1(DST):c.16078G>A (p.Ala5360Thr)667DSTUncertain significancers779849952RCV001245916; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641751256417512CT6:g.56417512C>T-
NM_001374736.1(DST):c.16070A>G (p.Glu5357Gly)667DSTUncertain significance-1RCV002008241; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641752056417520TC56417520-
NM_001374736.1(DST):c.16065A>G (p.Gln5355=)667DSTLikely benign-1RCV001469378; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641752556417525TC56417525-
NM_001374736.1(DST):c.16059A>T (p.Leu5353Phe)667DSTUncertain significance-1RCV001892887; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641753156417531TA56417531-
NM_001374736.1(DST):c.16052A>C (p.Asp5351Ala)667DSTUncertain significancers1287393894RCV001245368; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641753856417538TG6:g.56417538T>G-
NM_001374736.1(DST):c.16047C>G (p.Thr5349=)667DSTLikely benignrs370841140RCV000979752|RCV001726403; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265641754356417543GC6:g.56417543G>C-
NM_001374736.1(DST):c.16045A>G (p.Thr5349Ala)667DSTBenignrs4715631RCV000608135|RCV001510449|RCV001662663|RCV001692227|RCV001701395; NMONDO: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|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412165641754556417545TCNC_000006.11:g.56417545T>CClinGen:CA3867736C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.16034A>G (p.Asp5345Gly)667DSTUncertain significancers749976441RCV001245721; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641755656417556TC6:g.56417556T>C-
NM_001374736.1(DST):c.16008A>C (p.Ala5336=)667DSTLikely benign-1RCV001502908; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641758256417582TG56417582-
NM_001374736.1(DST):c.15941T>G (p.Met5314Arg)667DSTUncertain significancers1325893287RCV001313692; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641764956417649AC56417649-
NM_001374736.1(DST):c.15903G>T (p.Ser5301=)667DSTLikely benign-1RCV001417144; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641768756417687CA56417687-
NM_001374736.1(DST):c.15903G>A (p.Ser5301=)667DSTLikely benign-1RCV001443655; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641768756417687CT56417687-
NM_001374736.1(DST):c.15902C>T (p.Ser5301Leu)667DSTUncertain significancers112177059RCV000488374|RCV001243783; NMedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641768856417688GA6:g.56417688G>AClinGen:CA3867760CN517202 not provided;
NM_001374736.1(DST):c.15898G>A (p.Asp5300Asn)667DSTUncertain significancers200661658RCV001298258; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641769256417692CT56417692-
NM_001374736.1(DST):c.15897T>C (p.His5299=)667DSTLikely benign-1RCV001451341; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641769356417693AG56417693-
NM_001374736.1(DST):c.15888A>G (p.Leu5296=)667DSTLikely benign-1RCV001431514; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641770256417702TC56417702-
NM_001374736.1(DST):c.15880G>A (p.Glu5294Lys)667DSTUncertain significance-1RCV001871245; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641771056417710CT56417710-
NM_001374736.1(DST):c.15877A>G (p.Lys5293Glu)667DSTUncertain significancers888556461RCV001241123; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641771356417713TC6:g.56417713T>C-
NM_001374736.1(DST):c.15872G>A (p.Cys5291Tyr)667DSTUncertain significance-1RCV001940068; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641771856417718CT56417718-
NM_001374736.1(DST):c.15861G>A (p.Arg5287=)667DSTBenignrs58928900RCV000979007|RCV001712830; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265641772956417729CT6:g.56417729C>T-
NM_001374736.1(DST):c.15854C>T (p.Ser5285Phe)667DSTUncertain significance-1RCV001918544; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641773656417736GA56417736-
NM_001374736.1(DST):c.15836AAG[1] (p.Glu5280del)667DSTUncertain significancers1233181836RCV001243843; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641774956417751ACTTA6:g.56417749_56417751del-
NM_001374736.1(DST):c.15836A>G (p.Gln5279Arg)667DSTUncertain significance-1RCV001928532; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641775456417754TC56417754-
NM_001374736.1(DST):c.15825T>C (p.Phe5275=)667DSTLikely benign-1RCV001405650; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641776556417765AG56417765-
NM_001374736.1(DST):c.15804G>A (p.Leu5268=)667DSTLikely benign-1RCV001395643; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641778656417786CT56417786-
NM_001374736.1(DST):c.15788G>A (p.Ser5263Asn)667DSTUncertain significancers374575683RCV001247836|RCV001508545; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN51720265641780256417802CT6:g.56417802C>T-
NM_001374736.1(DST):c.15784C>T (p.His5262Tyr)667DSTUncertain significance-1RCV001928890; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641780656417806GA56417806-
NM_001374736.1(DST):c.15781C>A (p.Leu5261Ile)667DSTUncertain significancers762522099RCV001240405; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641780956417809GT6:g.56417809G>T-
NM_001374736.1(DST):c.15766A>G (p.Met5256Val)667DSTUncertain significance-1RCV002041785; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641782456417824TC56417824-
NM_001374736.1(DST):c.15765C>T (p.Asp5255=)667DSTLikely benign-1RCV001467258; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641782556417825GA56417825-
NM_001374736.1(DST):c.15734A>T (p.Asp5245Val)667DSTUncertain significancers1248294838RCV001348840; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641785656417856TA56417856-
NM_001374736.1(DST):c.15714A>G (p.Ile5238Met)667DSTUncertain significance-1RCV002030640; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641787656417876TC56417876-
NM_001374736.1(DST):c.15711G>A (p.Glu5237=)667DSTLikely benign-1RCV001433295; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641787956417879CT56417879-
NM_001374736.1(DST):c.15709G>A (p.Glu5237Lys)667DSTUncertain significancers2097347589RCV001245230; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641788156417881CT6:g.56417881C>T-
NM_001374736.1(DST):c.15699C>T (p.Leu5233=)667DSTLikely benign-1RCV002209358; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641789156417891GA56417891-
NM_001374736.1(DST):c.15696G>A (p.Leu5232=)667DSTLikely benign-1RCV001413182; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641789456417894CT56417894-
NM_001374736.1(DST):c.15690T>C (p.Asn5230=)667DSTLikely benign-1RCV002163198; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641790056417900AG56417900-
NM_001374736.1(DST):c.15670T>G (p.Leu5224Val)667DSTUncertain significancers2097348097RCV001241252; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641792056417920AC6:g.56417920A>C-
NM_001374736.1(DST):c.15653A>C (p.His5218Pro)667DSTUncertain significancers2097348376RCV001247903; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641793756417937TG6:g.56417937T>G-
NM_001374736.1(DST):c.15624A>G (p.Leu5208=)667DSTLikely benign-1RCV002159430; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641796656417966TC56417966-
NM_001374736.1(DST):c.15602G>C (p.Gly5201Ala)667DSTUncertain significancers763915802RCV001248339; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641798856417988CG6:g.56417988C>G-
NM_001374736.1(DST):c.15586T>C (p.Leu5196=)667DSTBenignrs200133509RCV000979015; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641800456418004AG6:g.56418004A>G-
NM_001374736.1(DST):c.15584G>A (p.Cys5195Tyr)667DSTBenignrs57472891RCV000979008|RCV001692330; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265641800656418006CT6:g.56418006C>T-
NM_001374736.1(DST):c.15570G>A (p.Glu5190=)667DSTBenignrs200941177RCV000979013; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641802056418020CT6:g.56418020C>T-
NM_001374736.1(DST):c.15564C>T (p.Asn5188=)667DSTLikely benign-1RCV001414096; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641802656418026GA56418026-
NM_001374736.1(DST):c.15540A>G (p.Pro5180=)667DSTLikely benign-1RCV002090868; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641805056418050TC56418050-
NM_001374736.1(DST):c.15534C>T (p.Leu5178=)667DSTLikely benign-1RCV002167677; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641805656418056GA56418056-
NM_001374736.1(DST):c.15528G>T (p.Glu5176Asp)667DSTUncertain significance-1RCV001365638; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641806256418062CA56418062-
NM_001374736.1(DST):c.15526G>C (p.Glu5176Gln)667DSTUncertain significancers770419341RCV001244481; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641806456418064CG6:g.56418064C>G-
NM_001374736.1(DST):c.15489G>C (p.Glu5163Asp)667DSTUncertain significance-1RCV001911550; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641810156418101CG56418101-
NM_001374736.1(DST):c.15486A>G (p.Lys5162=)667DSTLikely benignrs1584777193RCV000983179; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641810456418104TC6:g.56418104T>C-
NM_001374736.1(DST):c.15465A>G (p.Lys5155=)667DSTLikely benign-1RCV002102783; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641812556418125TC56418125-
NM_001374736.1(DST):c.15446C>T (p.Thr5149Ile)667DSTUncertain significancers369194519RCV001245233; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641814456418144GA6:g.56418144G>A-
NM_001374736.1(DST):c.15426A>G (p.Thr5142=)667DSTLikely benignrs767246314RCV000981895; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641816456418164TC6:g.56418164T>C-
NM_001374736.1(DST):c.15406T>G (p.Leu5136Val)667DSTUncertain significancers750727762RCV001327634; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641818456418184AC56418184-
NM_001374736.1(DST):c.15398A>G (p.Lys5133Arg)667DSTUncertain significance-1RCV001901028; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641819256418192TC56418192-
NM_001374736.1(DST):c.15376T>C (p.Leu5126=)667DSTLikely benign-1RCV001492401; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641821456418214AG56418214-
NM_001374736.1(DST):c.15360del (p.Gly5121fs)667DSTPathogenic-1RCV001872177; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641823056418230CTC56418229-
NM_001374736.1(DST):c.15356C>T (p.Ala5119Val)667DSTUncertain significance-1RCV001887817; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641823456418234GA56418234-
NM_001374736.1(DST):c.15353T>C (p.Ile5118Thr)667DSTUncertain significance-1RCV001914752; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641823756418237AG56418237-
NM_001374736.1(DST):c.15341A>G (p.Tyr5114Cys)667DSTUncertain significancers866453035RCV001245719; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641824956418249TC6:g.56418249T>C-
NM_001374736.1(DST):c.15334C>A (p.His5112Asn)667DSTUncertain significancers2097351978RCV001239996; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641825656418256GT6:g.56418256G>T-
NM_001374736.1(DST):c.15327T>C (p.Ala5109=)667DSTLikely benign-1RCV001467256; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641826356418263AG56418263-
NM_001374736.1(DST):c.15327T>A (p.Ala5109=)667DSTLikely benign-1RCV002090228; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641826356418263AT56418263-
NM_001374736.1(DST):c.15310A>G (p.Ser5104Gly)667DSTUncertain significance-1RCV001922548; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641828056418280TC56418280-
NM_001374736.1(DST):c.15309T>A (p.Phe5103Leu)667DSTUncertain significancers191081991RCV000625440|RCV000998632|RCV001240921; NMONDO: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:31438165641828156418281AT6:g.56418281A>TClinGen:CA3867837C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.15308T>C (p.Phe5103Ser)667DSTUncertain significance-1RCV001899540; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641828256418282AG56418282-
NM_001374736.1(DST):c.15300T>A (p.His5100Gln)667DSTUncertain significance-1RCV001362112; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641829056418290AT56418290-
NM_001374736.1(DST):c.15299A>G (p.His5100Arg)667DSTUncertain significance-1RCV001939767; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641829156418291TC56418291-
NM_001374736.1(DST):c.15271G>A (p.Asp5091Asn)667DSTUncertain significancers148831744RCV001239511|RCV001810003; NMONDO: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:31438165641831956418319CT6:g.56418319C>T-
NM_001374736.1(DST):c.15262G>A (p.Ala5088Thr)667DSTUncertain significancers2097352781RCV001248042; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641832856418328CT6:g.56418328C>T-
NM_001374736.1(DST):c.15242A>T (p.Asn5081Ile)667DSTUncertain significancers537433450RCV001248469; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641834856418348TA6:g.56418348T>A-
NM_001374736.1(DST):c.15216G>A (p.Trp5072Ter)667DSTPathogenic/Likely pathogenicrs893650971RCV000521976|RCV001244880; NMedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641837456418374CT6:g.56418374C>TClinGen:CA364517866CN517202 not provided;
NM_001374736.1(DST):c.15216G>C (p.Trp5072Cys)667DSTUncertain significance-1RCV001945821; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641837456418374CG56418374-
NM_001374736.1(DST):c.15203A>T (p.Asp5068Val)667DSTUncertain significancers2097353414RCV001299644; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641838756418387TA56418387-
NM_001374736.1(DST):c.15199A>G (p.Arg5067Gly)667DSTUncertain significancers768224900RCV001246393; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641839156418391TC6:g.56418391T>C-
NM_001374736.1(DST):c.15191A>G (p.Gln5064Arg)667DSTBenign/Likely benignrs143438011RCV000979026|RCV001766802; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265641839956418399TC6:g.56418399T>C-
NM_001374736.1(DST):c.15174C>T (p.Ser5058=)667DSTBenign-1RCV001517026; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641841656418416GA56418416-
NM_001374736.1(DST):c.15170C>T (p.Ala5057Val)667DSTUncertain significance-1RCV001990280; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641842056418420GA56418420-
NM_001374736.1(DST):c.15163G>A (p.Ala5055Thr)667DSTUncertain significance-1RCV001998528; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641842756418427CT56418427-
NM_001374736.1(DST):c.15162G>A (p.Ser5054=)667DSTLikely benign-1RCV002116742; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641842856418428CT56418428-
NM_001374736.1(DST):c.15161C>T (p.Ser5054Leu)667DSTUncertain significance-1RCV001880947; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641842956418429GA56418429-
NM_001374736.1(DST):c.15159G>T (p.Gln5053His)667DSTUncertain significance-1RCV001904969; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641843156418431CA56418431-
NM_001374736.1(DST):c.15147C>G (p.Val5049=)667DSTLikely benign-1RCV002179175; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641844356418443GC56418443-
NM_001374736.1(DST):c.15143A>T (p.His5048Leu)667DSTUncertain significance-1RCV002022293; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641844756418447TA56418447-
NM_001374736.1(DST):c.15121G>A (p.Val5041Ile)667DSTBenign-1RCV001510456|RCV001685372; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN51720265642015856420158CT56420158-
NM_001374736.1(DST):c.15092T>A (p.Leu5031Gln)667DSTUncertain significance-1RCV001363050; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642018756420187AT56420187-
NM_001374736.1(DST):c.15085A>G (p.Arg5029Gly)667DSTUncertain significancers2097397900RCV001246126; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642019456420194TC6:g.56420194T>C-
NM_001374736.1(DST):c.15083G>A (p.Ser5028Asn)667DSTUncertain significance-1RCV001950543; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642019656420196CT56420196-
NM_001374736.1(DST):c.15057A>C (p.Lys5019Asn)667DSTUncertain significancers952108992RCV001246993; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642022256420222TG6:g.56420222T>G-
NM_001374736.1(DST):c.15028C>G (p.Leu5010Val)667DSTUncertain significance-1RCV001889385; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642025156420251GC56420251-
NM_001374736.1(DST):c.15004A>C (p.Lys5002Gln)667DSTLikely benign-1RCV001484809; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642027556420275TG56420275-
NM_001374736.1(DST):c.14972A>C (p.Gln4991Pro)667DSTUncertain significancers2097399604RCV001239100; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642030756420307TG6:g.56420307T>G-
NM_001374736.1(DST):c.14959T>C (p.Leu4987=)667DSTBenignrs78470764RCV000979576; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642032056420320AG6:g.56420320A>G-
NM_001374736.1(DST):c.14952C>T (p.Asn4984=)667DSTLikely benign-1RCV002099271; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642032756420327GA56420327-
NM_001374736.1(DST):c.14951A>G (p.Asn4984Ser)667DSTUncertain significancers751619980RCV001246729; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642032856420328TC6:g.56420328T>C-
NM_001374736.1(DST):c.14947A>G (p.Met4983Val)667DSTUncertain significancers188156383RCV001246730; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642033256420332TC6:g.56420332T>C-
NM_001374736.1(DST):c.14947A>C (p.Met4983Leu)667DSTUncertain significancers188156383RCV001248470; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642033256420332TG6:g.56420332T>G-
NM_001374736.1(DST):c.14944G>A (p.Ala4982Thr)667DSTUncertain significance-1RCV001884821; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642033556420335CT56420335-
NM_001374736.1(DST):c.14937C>T (p.His4979=)667DSTLikely benign-1RCV001488166; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642034256420342GA56420342-
NM_001374736.1(DST):c.14936A>G (p.His4979Arg)667DSTUncertain significancers763236400RCV001244360; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642034356420343TC6:g.56420343T>C-
NM_001374736.1(DST):c.14934G>A (p.Thr4978=)667DSTLikely benign-1RCV001413657; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642034556420345CT56420345-
NM_001374736.1(DST):c.14933C>T (p.Thr4978Met)667DSTUncertain significancers202121891RCV001245166; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642034656420346GA6:g.56420346G>A-
NM_001374736.1(DST):c.14880T>C (p.Ser4960=)667DSTLikely benign-1RCV001466429; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642039956420399AG56420399-
NM_001374736.1(DST):c.14874C>A (p.Ser4958Arg)667DSTUncertain significancers746641066RCV001243635; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642040556420405GT6:g.56420405G>T-
NM_001374736.1(DST):c.14874C>G (p.Ser4958Arg)667DSTUncertain significance-1RCV001984644; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642040556420405GC56420405-
NM_001374736.1(DST):c.14861G>A (p.Ser4954Asn)667DSTUncertain significancers1360966681RCV001322234; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642041856420418CT56420418-
NM_001374736.1(DST):c.14815T>G (p.Cys4939Gly)667DSTUncertain significance-1RCV001986697; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642046456420464AC56420464-
NM_001374736.1(DST):c.14800C>A (p.Gln4934Lys)667DSTUncertain significancers199936602RCV001241612; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642047956420479GT6:g.56420479G>T-
NM_001374736.1(DST):c.14772G>A (p.Val4924=)667DSTLikely benign-1RCV001409186; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642050756420507CT56420507-
NM_001374736.1(DST):c.14741G>A (p.Arg4914His)667DSTBenign-1RCV001510453|RCV001664909|RCV001664908|RCV001655738; NMONDO: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:412181|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314365642053856420538CT56420538-
NM_001374736.1(DST):c.14735C>T (p.Ser4912Phe)667DSTUncertain significance-1RCV002025755; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642054456420544GA56420544-
NM_001374736.1(DST):c.14731C>A (p.Pro4911Thr)667DSTUncertain significancers201412680RCV001324123|RCV001332914|RCV001508546; NMONDO: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:CN51720265642054856420548GT56420548-
NM_001374736.1(DST):c.14726A>G (p.Glu4909Gly)667DSTUncertain significance-1RCV001895320; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642055356420553TC56420553-
NM_001374736.1(DST):c.14725G>A (p.Glu4909Lys)667DSTUncertain significance-1RCV001967637; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642055456420554CT56420554-
NM_001374736.1(DST):c.14718G>A (p.Arg4906=)667DSTLikely benign-1RCV001416915; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642056156420561CT56420561-
NM_001374736.1(DST):c.14709T>A (p.Ile4903=)667DSTLikely benign-1RCV001414085; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642057056420570AT56420570-
NM_001374736.1(DST):c.14688G>A (p.Leu4896=)667DSTLikely benign-1RCV001429271; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642059156420591CT56420591-
NM_001374736.1(DST):c.14686C>T (p.Leu4896=)667DSTLikely benign-1RCV001506000; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642059356420593GA56420593-
NM_001374736.1(DST):c.14675A>G (p.Gln4892Arg)667DSTUncertain significance-1RCV002033419; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642060456420604TC56420604-
NM_001374736.1(DST):c.14661C>T (p.Ala4887=)667DSTLikely benign-1RCV001479222; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642061856420618GA56420618-
NM_001374736.1(DST):c.14655A>G (p.Glu4885=)667DSTLikely benign-1RCV001396875; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642062456420624TC56420624-
NM_001374736.1(DST):c.14646G>A (p.Leu4882=)667DSTLikely benign-1RCV001437872; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642063356420633CT56420633-
NM_001374736.1(DST):c.14641-4T>G667DSTLikely benign-1RCV001398506; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642064256420642AC56420642-
NM_001374736.1(DST):c.14641-4T>C667DSTLikely benign-1RCV001436024; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642064256420642AG56420642-
NM_001374736.1(DST):c.14640+19C>T667DSTLikely benign-1RCV002137845; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642209856422098GA56422098-
NM_001374736.1(DST):c.14640+8T>G667DSTLikely benign-1RCV002124131; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642210956422109AC56422109-
NM_001374736.1(DST):c.14640+5G>A667DSTUncertain significancers2097441805RCV001243499; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642211256422112CT6:g.56422112C>T-
NM_001374736.1(DST):c.14637G>A (p.Val4879=)667DSTUncertain significancers765614214RCV001303200; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642212056422120CT56422120-
NM_001374736.1(DST):c.14636T>G (p.Val4879Gly)667DSTUncertain significancers2097442163RCV001316549; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642212156422121AC56422121-
NM_001374736.1(DST):c.14601T>A (p.Ile4867=)667DSTUncertain significance-1RCV001893559; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642215656422156AT56422156-
NM_001374736.1(DST):c.14592C>T (p.Pro4864=)667DSTLikely benign-1RCV001457665; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642216556422165GA56422165-
NM_001374736.1(DST):c.14574G>A (p.Met4858Ile)667DSTUncertain significance-1RCV001934503; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642218356422183CT56422183-
NM_001374736.1(DST):c.14542T>C (p.Leu4848=)667DSTLikely benign-1RCV001462729; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642221556422215AG56422215-
NM_001374736.1(DST):c.14541A>G (p.Gln4847=)667DSTBenign-1RCV001514397|RCV001655749; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265642221656422216TC56422216-
NM_001374736.1(DST):c.14532A>G (p.Val4844=)667DSTLikely benign-1RCV002156006; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642222556422225TC56422225-
NM_001374736.1(DST):c.14530G>A (p.Val4844Ile)667DSTUncertain significance-1RCV001939733; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642222756422227CT56422227-
NM_001374736.1(DST):c.14515A>G (p.Thr4839Ala)667DSTUncertain significancers371655301RCV001239102; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642224256422242TC6:g.56422242T>C-
NM_001374736.1(DST):c.14510A>G (p.Asn4837Ser)667DSTUncertain significancers1202507145RCV001246395; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642224756422247TC6:g.56422247T>C-
NM_001374736.1(DST):c.14505C>T (p.Ser4835=)667DSTLikely benign-1RCV002178404; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642225256422252GA56422252-
NM_001374736.1(DST):c.14501C>A (p.Ser4834Tyr)667DSTUncertain significancers1290750029RCV001248531; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642225656422256GT6:g.56422256G>T-
NM_001374736.1(DST):c.14495A>G (p.Glu4832Gly)667DSTConflicting interpretations of pathogenicityrs201437391RCV000998633|RCV001452152; NMedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642226256422262TC6:g.56422262T>C-
NM_001374736.1(DST):c.14461A>C (p.Asn4821His)667DSTBenignrs139089184RCV000982198; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642229656422296TG6:g.56422296T>G-
NM_001374736.1(DST):c.14452C>G (p.Gln4818Glu)667DSTUncertain significance-1RCV002015749; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642230556422305GC56422305-
NM_001374736.1(DST):c.14441-7_14441-6del667DSTLikely benign-1RCV001410504; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642232256422323AAGA56422321-
NM_001374736.1(DST):c.14441-7C>T667DSTLikely benign-1RCV001493169|RCV001815567; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265642232356422323GA56422323-
NM_001374736.1(DST):c.14441-7del667DSTBenign/Likely benign-1RCV001510457|RCV001732194; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN51720265642232356422323AGA56422322-
NM_001374736.1(DST):c.14441-10T>C667DSTLikely benign-1RCV001431544; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642232656422326AG56422326-
NM_001374736.1(DST):c.14440+15T>G667DSTLikely benign-1RCV002194388; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642507756425077AC56425077-
NM_001374736.1(DST):c.14440+10G>A667DSTLikely benignrs375501871RCV000979880; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642508256425082CT6:g.56425082C>T-
NM_001374736.1(DST):c.14440+9C>T667DSTLikely benign-1RCV001483485; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642508356425083GA56425083-
NM_001374736.1(DST):c.14440+8G>A667DSTLikely benign-1RCV001457073; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642508456425084CT56425084-
NM_001374736.1(DST):c.14440G>A (p.Asp4814Asn)667DSTLikely benign-1RCV001501061; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642509256425092CT56425092-
NM_001374736.1(DST):c.14439A>G (p.Ile4813Met)667DSTUncertain significancers373340565RCV000817186; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642509356425093TC6:g.56425093T>C-
NM_001374736.1(DST):c.14434G>C (p.Glu4812Gln)667DSTUncertain significancers779944990RCV001346120; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642509856425098CG56425098-
NM_001374736.1(DST):c.14424G>T (p.Gln4808His)667DSTUncertain significance-1RCV001365668; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642510856425108CA56425108-
NM_001374736.1(DST):c.14418G>C (p.Trp4806Cys)667DSTUncertain significancers2097517609RCV001296252; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642511456425114CG56425114-
NM_001374736.1(DST):c.14415A>T (p.Arg4805Ser)667DSTUncertain significance-1RCV001991441; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642511756425117TA56425117-
NM_001374736.1(DST):c.14412C>T (p.Pro4804=)667DSTLikely benign-1RCV001393430; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642512056425120GA56425120-
NM_001374736.1(DST):c.14410C>T (p.Pro4804Ser)667DSTUncertain significancers368820405RCV000823210; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642512256425122GA6:g.56425122G>A-
NM_001374736.1(DST):c.14407G>A (p.Ala4803Thr)667DSTUncertain significancers773639256RCV001246127; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642512556425125CT6:g.56425125C>T-
NM_001374736.1(DST):c.14399C>A (p.Thr4800Asn)667DSTUncertain significance-1RCV001899169; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642513356425133GT56425133-
NM_001374736.1(DST):c.14392C>T (p.Pro4798Ser)667DSTUncertain significancers372505269RCV001243295; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642514056425140GA6:g.56425140G>A-
NM_001374736.1(DST):c.14381T>C (p.Leu4794Ser)667DSTUncertain significancers2097518193RCV001246198; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642515156425151AG6:g.56425151A>G-
NM_001374736.1(DST):c.14375A>C (p.Glu4792Ala)667DSTUncertain significance-1RCV001989201; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642515756425157TG56425157-
NM_001374736.1(DST):c.14367A>G (p.Lys4789=)667DSTLikely benign-1RCV002130531; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642516556425165TC56425165-
NM_001374736.1(DST):c.14360A>C (p.Lys4787Thr)667DSTUncertain significance-1RCV001907388; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642517256425172TG56425172-
NM_001374736.1(DST):c.14346A>C (p.Lys4782Asn)667DSTUncertain significance-1RCV001997520; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642518656425186TG56425186-
NM_001374736.1(DST):c.14328G>A (p.Leu4776=)667DSTLikely benign-1RCV001405654; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642520456425204CT56425204-
NM_001374736.1(DST):c.14313G>A (p.Ser4771=)667DSTBenignrs113998459RCV000981882; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642521956425219CT6:g.56425219C>T-
NM_001374736.1(DST):c.14312C>T (p.Ser4771Leu)667DSTBenignrs62619760RCV000979029; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642522056425220GA6:g.56425220G>A-
NM_001374736.1(DST):c.14311-19A>G667DSTBenign-1RCV002106632; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642524056425240TC56425240-
NM_001374736.1(DST):c.14311-20T>G667DSTLikely benign-1RCV002096594; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642524156425241AC56425241-
NM_001374736.1(DST):c.14310+19C>T667DSTLikely benign-1RCV002109156; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642608756426087GA56426087-
NM_001374736.1(DST):c.14297T>C (p.Val4766Ala)667DSTUncertain significancers368555516RCV001299272; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642611956426119AG56426119-
NM_001374736.1(DST):c.14291C>T (p.Thr4764Ile)667DSTUncertain significancers1664409134RCV001239590; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642612556426125GA6:g.56426125G>A-
NM_001374736.1(DST):c.14274T>C (p.Asp4758=)667DSTLikely benign-1RCV001505472; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642614256426142AG56426142-
NM_001374736.1(DST):c.14264C>G (p.Ala4755Gly)667DSTUncertain significance-1RCV001891626; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642615256426152GC56426152-
NM_001374736.1(DST):c.14260C>G (p.Pro4754Ala)667DSTUncertain significancers188631490RCV001246064|RCV001508548; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN51720265642615656426156GC6:g.56426156G>C-
NM_001374736.1(DST):c.14252A>G (p.Gln4751Arg)667DSTUncertain significance-1RCV001970280; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642616456426164TC56426164-
NM_001374736.1(DST):c.14234A>G (p.Lys4745Arg)667DSTUncertain significance-1RCV001365516; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642618256426182TC56426182-
NM_001374736.1(DST):c.14224A>G (p.Lys4742Glu)667DSTUncertain significance-1RCV001954872; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642619256426192TC56426192-
NM_001374736.1(DST):c.14217G>A (p.Trp4739Ter)667DSTPathogenicrs2097534211RCV001248338; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642619956426199CT6:g.56426199C>T-
NM_001374736.1(DST):c.14207T>C (p.Met4736Thr)667DSTUncertain significance-1RCV001364781; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642620956426209AG56426209-
NM_001374736.1(DST):c.14193A>G (p.Glu4731=)667DSTLikely benign-1RCV002097800; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642622356426223TC56426223-
NM_001374736.1(DST):c.14181A>G (p.Gln4727=)667DSTUncertain significancers2097534567RCV001246272; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642623556426235TC6:g.56426235T>C-
NM_001374736.1(DST):c.14180A>G (p.Gln4727Arg)667DSTUncertain significancers1235195966RCV001248530; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642623656426236TC6:g.56426236T>C-
NM_001374736.1(DST):c.14174A>G (p.Lys4725Arg)667DSTBenignrs78484087RCV000979005|RCV001615088; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265642624256426242TC6:g.56426242T>C-
NM_001374736.1(DST):c.14170T>C (p.Ser4724Pro)667DSTBenignrs148547958RCV000979587; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642624656426246AG6:g.56426246A>G-
NM_001374736.1(DST):c.14162C>T (p.Thr4721Ile)667DSTUncertain significancers1562806934RCV001349667; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642625456426254GA56426254-
NM_001374736.1(DST):c.14151G>A (p.Ala4717=)667DSTBenignrs78882406RCV000979038; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642626556426265CT6:g.56426265C>T-
NM_001374736.1(DST):c.14150C>T (p.Ala4717Val)667DSTUncertain significancers181741923RCV001242695|RCV001508549; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN51720265642626656426266GA6:g.56426266G>A-
NM_001374736.1(DST):c.14144A>G (p.Lys4715Arg)667DSTUncertain significancers199706428RCV001245505; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642627256426272TC6:g.56426272T>C-
NM_001374736.1(DST):c.14140G>A (p.Asp4714Asn)667DSTUncertain significancers777868479RCV001242624; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642627656426276CT6:g.56426276C>T-
NM_001374736.1(DST):c.14134C>T (p.Leu4712Phe)667DSTUncertain significancers376647921RCV001312571; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642628256426282GA56426282-
NM_001374736.1(DST):c.14130C>T (p.Leu4710=)667DSTLikely benign-1RCV001466847; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642628656426286GA56426286-
NM_001374736.1(DST):c.14108A>G (p.His4703Arg)667DSTUncertain significancers772369999RCV001241197; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642630856426308TC6:g.56426308T>C-
NM_001374736.1(DST):c.14094G>T (p.Met4698Ile)667DSTLikely benign-1RCV001496383; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642632256426322CA56426322-
NM_001374736.1(DST):c.14069-5C>T667DSTLikely benign-1RCV002175061; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642635256426352GA56426352-
NM_001374736.1(DST):c.14069-12T>C667DSTLikely benign-1RCV002043288; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642635956426359AG56426359-
NM_001374736.1(DST):c.14069-16T>G667DSTBenign-1RCV002117973; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642636356426363AC56426363-
NM_001374736.1(DST):c.14068+5G>A667DSTBenignrs9367689RCV000613030|RCV001613403|RCV001510450|RCV001662664|RCV001700175; NMONDO: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|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615465642693156426931CTNC_000006.11:g.56426931C>TClinGen:CA3868108C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.14064T>C (p.Asn4688=)667DSTUncertain significancers1377086977RCV000797972; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642694056426940AG6:g.56426940A>G-
NM_001374736.1(DST):c.14057G>A (p.Trp4686Ter)667DSTPathogenicrs2097544341RCV001248266; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642694756426947CT6:g.56426947C>T-
NM_001374736.1(DST):c.14052A>G (p.Glu4684=)667DSTLikely benign-1RCV001405634; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642695256426952TC56426952-
NM_001374736.1(DST):c.14035G>C (p.Ala4679Pro)667DSTUncertain significancers775166216RCV001246731; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642696956426969CG6:g.56426969C>G-
NM_001374736.1(DST):c.14033C>T (p.Thr4678Ile)667DSTUncertain significancers1382596937RCV001322514; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642697156426971GA56426971-
NM_001374736.1(DST):c.14024G>A (p.Gly4675Asp)667DSTUncertain significance-1RCV001365847; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642698056426980CT56426980-
NM_001374736.1(DST):c.14024G>T (p.Gly4675Val)667DSTUncertain significance-1RCV001952666; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642698056426980CA56426980-
NM_001374736.1(DST):c.14006-6T>C667DSTBenign-1RCV001514390|RCV001709712; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265642700456427004AG56427004-
NM_001374736.1(DST):c.14005+6A>T667DSTUncertain significancers377182814RCV001243167; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643326156433261TA6:g.56433261T>A-
NM_001374736.1(DST):c.13970C>G (p.Thr4657Ser)667DSTUncertain significancers528578142RCV001245918; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643330256433302GC6:g.56433302G>C-
NM_001374736.1(DST):c.13963G>T (p.Ala4655Ser)667DSTUncertain significancers370851951RCV001347125; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643330956433309CA56433309-
NM_001374736.1(DST):c.13947A>G (p.Leu4649=)667DSTLikely benign-1RCV002176699; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643332556433325TC56433325-
NM_001374736.1(DST):c.13934G>A (p.Ser4645Asn)667DSTUncertain significancers748268169RCV001244609; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643333856433338CT6:g.56433338C>T-
NM_001374736.1(DST):c.13929C>T (p.Asn4643=)667DSTLikely benign-1RCV002178579; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643334356433343GA56433343-
NM_001374736.1(DST):c.13928A>T (p.Asn4643Ile)667DSTUncertain significancers147895709RCV001319626; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643334456433344TA56433344-
NM_001374736.1(DST):c.13912G>C (p.Glu4638Gln)667DSTUncertain significancers377669664RCV001241869; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643336056433360CG6:g.56433360C>G-
NM_001374736.1(DST):c.13905A>C (p.Lys4635Asn)667DSTUncertain significance-1RCV001913265; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643336756433367TG56433367-
NM_001374736.1(DST):c.13902A>T (p.Leu4634Phe)667DSTUncertain significance-1RCV001367027; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643337056433370TA56433370-
NM_001374736.1(DST):c.13885C>A (p.Gln4629Lys)667DSTUncertain significancers1207366191RCV001246270; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643338756433387GT6:g.56433387G>T-
NM_001374736.1(DST):c.13878+8A>G667DSTLikely benign-1RCV001413217; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643464656434646TC56434646-
NM_001374736.1(DST):c.13825G>A (p.Val4609Ile)667DSTUncertain significance-1RCV001954757; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643470756434707CT56434707-
NM_001374736.1(DST):c.13820C>A (p.Pro4607His)667DSTBenign/Likely benignrs138967674RCV000979003|RCV001732002; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265643471256434712GT6:g.56434712G>T-
NM_001374736.1(DST):c.13813A>G (p.Lys4605Glu)667DSTUncertain significancers113849115RCV001241062; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643471956434719TC6:g.56434719T>C-
NM_001374736.1(DST):c.13807A>G (p.Thr4603Ala)667DSTUncertain significancers2097755652RCV001247573; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643472556434725TC6:g.56434725T>C-
NM_001374736.1(DST):c.13801G>A (p.Glu4601Lys)667DSTUncertain significance-1RCV001913040; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643473156434731CT56434731-
NM_001374736.1(DST):c.13757A>C (p.Asp4586Ala)667DSTUncertain significance-1RCV001988133; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643477556434775TG56434775-
NM_001374736.1(DST):c.13736C>T (p.Thr4579Ile)667DSTUncertain significancers2097756144RCV001241810; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643479656434796GA6:g.56434796G>A-
NM_001374736.1(DST):c.13724AAG[1] (p.Glu4576del)667DSTUncertain significancers2097756169RCV001352131; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643480356434805GCTTG56434802-
NM_001374736.1(DST):c.13722-4G>A667DSTBenign-1RCV001510526; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643481456434814CT56434814-
NM_001374736.1(DST):c.13722-5T>C667DSTLikely benign-1RCV001483482; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643481556434815AG56434815-
NM_001374736.1(DST):c.13721+13T>G667DSTLikely benign-1RCV002088557; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643688556436885AC56436885-
NM_001374736.1(DST):c.13721+2dup667DSTUncertain significance-1RCV001933258; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643689556436896TTA56436895-
NM_001374736.1(DST):c.13711A>G (p.Ile4571Val)667DSTUncertain significance-1RCV001926908; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643690856436908TC56436908-
NM_001374736.1(DST):c.13710C>A (p.Thr4570=)667DSTLikely benign-1RCV002110255; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643690956436909GT56436909-
NM_001374736.1(DST):c.13709C>A (p.Thr4570Asn)667DSTUncertain significancers1448444120RCV001245790; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643691056436910GT6:g.56436910G>T-
NM_001374736.1(DST):c.13707_13708insTAATATAAATAGAATAAAATAT (p.Thr4570Ter)667DSTPathogenic-1RCV001994464; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643691156436912TTATATTTTATTCTATTTATATTA56436911-
NM_001374736.1(DST):c.13705G>A (p.Asp4569Asn)667DSTUncertain significancers759202844RCV001242443; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643691456436914CT6:g.56436914C>T-
NM_001374736.1(DST):c.13701G>A (p.Met4567Ile)667DSTUncertain significancers1445711960RCV000998634|RCV001239864; NMedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643691856436918CT6:g.56436918C>T-
NM_001374736.1(DST):c.13676A>G (p.Asn4559Ser)667DSTUncertain significance-1RCV001940639; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643694356436943TC56436943-
NM_001374736.1(DST):c.13652C>T (p.Ala4551Val)667DSTUncertain significance-1RCV001946332; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643696756436967GA56436967-
NM_001374736.1(DST):c.13631A>G (p.His4544Arg)667DSTUncertain significancers748806288RCV001343786; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643698856436988TC56436988-
NM_001374736.1(DST):c.13630C>T (p.His4544Tyr)667DSTUncertain significancers1397028886RCV001317743; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643698956436989GA56436989-
NM_001374736.1(DST):c.13609C>T (p.Leu4537Phe)667DSTUncertain significance-1RCV001909963; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643701056437010GA56437010-
NM_001374736.1(DST):c.13606A>G (p.Ser4536Gly)667DSTUncertain significance-1RCV001985452; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643701356437013TC56437013-
NM_001374736.1(DST):c.13598T>C (p.Val4533Ala)667DSTBenign/Likely benign-1RCV001514396|RCV001776241; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265643702156437021AG56437021-
NM_001374736.1(DST):c.13592T>C (p.Leu4531Pro)667DSTUncertain significancers760912540RCV000794796; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643702756437027AG6:g.56437027A>G-
NM_001374736.1(DST):c.13591C>G (p.Leu4531Val)667DSTUncertain significancers996209535RCV001305536; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643702856437028GC56437028-
NM_001374736.1(DST):c.13581C>T (p.His4527=)667DSTLikely benign-1RCV001487875; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643703856437038GA56437038-
NM_001374736.1(DST):c.13568A>G (p.Glu4523Gly)667DSTUncertain significance-1RCV002031449; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643705156437051TC56437051-
NM_001374736.1(DST):c.13565C>A (p.Ser4522Tyr)667DSTUncertain significancers751015571RCV001241740; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643705456437054GT6:g.56437054G>T-
NM_001374736.1(DST):c.13561A>G (p.Thr4521Ala)667DSTUncertain significance-1RCV001362340; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643705856437058TC56437058-
NM_001374736.1(DST):c.13555-13T>C667DSTLikely benign-1RCV002197884; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643707756437077AG56437077-
NM_001374736.1(DST):c.13555-17A>G667DSTBenign/Likely benign-1RCV001733232|RCV002073977; NMedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643708156437081TC56437081-
NM_001374736.1(DST):c.13555-20A>T667DSTLikely benign-1RCV002140729; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643708456437084TA56437084-
NM_001374736.1(DST):c.13554+18C>T667DSTLikely benign-1RCV002178378; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643752756437527GA56437527-
NM_001374736.1(DST):c.13532C>T (p.Thr4511Ile)667DSTUncertain significancers200621004RCV001243844; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643756756437567GA6:g.56437567G>A-
NM_001374736.1(DST):c.13528G>C (p.Val4510Leu)667DSTUncertain significance-1RCV001914079; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643757156437571CG56437571-
NM_001374736.1(DST):c.13527T>C (p.Asp4509=)667DSTLikely benign-1RCV001472054; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643757256437572AG56437572-
NM_001374736.1(DST):c.13523A>C (p.Lys4508Thr)667DSTUncertain significancers2097796893RCV001248120; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643757656437576TG6:g.56437576T>G-
NM_001374736.1(DST):c.13507G>A (p.Val4503Ile)667DSTUncertain significancers1241112751RCV001239371; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643759256437592CT6:g.56437592C>T-
NM_001374736.1(DST):c.13506A>G (p.Glu4502=)667DSTUncertain significance-1RCV002027244; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643759356437593TC56437593-
NM_001374736.1(DST):c.13499T>C (p.Leu4500Pro)667DSTUncertain significancers758532940RCV000998635|RCV001245434; NMedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643760056437600AG6:g.56437600A>G-
NM_001374736.1(DST):c.13494G>T (p.Gln4498His)667DSTUncertain significancers565276328RCV001245571; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643760556437605CA6:g.56437605C>A-
NM_001374736.1(DST):c.13482A>G (p.Glu4494=)667DSTLikely benign-1RCV002194402; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643761756437617TC56437617-
NM_001374736.1(DST):c.13448A>C (p.Glu4483Ala)667DSTUncertain significancers1371418837RCV001245854; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643765156437651TG6:g.56437651T>G-
NM_001374736.1(DST):c.13438G>A (p.Glu4480Lys)667DSTUncertain significancers1291767235RCV001324124; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643766156437661CT56437661-
NM_001374736.1(DST):c.13432A>G (p.Lys4478Glu)667DSTUncertain significancers577213409RCV001340877; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643766756437667TC56437667-
NM_001374736.1(DST):c.13430C>A (p.Thr4477Asn)667DSTUncertain significancers2097797774RCV001240000; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643766956437669GT6:g.56437669G>T-
NM_001374736.1(DST):c.13399G>C (p.Glu4467Gln)667DSTUncertain significancers758298929RCV001246725; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643770056437700CG6:g.56437700C>G-
NM_001374736.1(DST):c.13388A>G (p.His4463Arg)667DSTUncertain significancers1585223385RCV000817213; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643771156437711TC6:g.56437711T>C-
NM_001374736.1(DST):c.13371G>T (p.Arg4457=)667DSTLikely benign-1RCV002156005; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643772856437728CA56437728-
NM_001374736.1(DST):c.13369C>T (p.Arg4457Trp)667DSTUncertain significance-1RCV001946335; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643773056437730GA56437730-
NM_001374736.1(DST):c.13364C>G (p.Ser4455Cys)667DSTUncertain significance-1RCV001361115; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643773556437735GC56437735-
NM_001374736.1(DST):c.13361T>C (p.Leu4454Ser)667DSTConflicting interpretations of pathogenicityrs201758531RCV000578628|RCV000979439; NMedGen:CN169374|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643773856437738AG6:g.56437738A>GClinGen:CA3868229CN169374 not specified;
NM_001374736.1(DST):c.13306A>G (p.Met4436Val)667DSTUncertain significance-1RCV001977801; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643779356437793TC56437793-
NM_001374736.1(DST):c.13284G>T (p.Met4428Ile)667DSTUncertain significancers749936213RCV000818437; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643781556437815CA6:g.56437815C>A-
NM_001374736.1(DST):c.13283T>C (p.Met4428Thr)667DSTUncertain significancers757885682RCV001323599; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643781656437816AG56437816-
NM_001374736.1(DST):c.13273A>G (p.Ile4425Val)667DSTUncertain significancers182262649RCV000821141|RCV001766738; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265643782656437826TC6:g.56437826T>C-
NM_001374736.1(DST):c.13268G>A (p.Ser4423Asn)667DSTUncertain significance-1RCV001948078; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643783156437831CT56437831-
NM_001374736.1(DST):c.13262G>A (p.Arg4421His)667DSTUncertain significancers373925692RCV000808933; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643783756437837CT6:g.56437837C>T-
NM_001374736.1(DST):c.13262G>C (p.Arg4421Pro)667DSTUncertain significance-1RCV001363965; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643783756437837CG56437837-
NM_001374736.1(DST):c.13255_13256delinsTT (p.Ala4419Leu)667DSTUncertain significance-1RCV001901848; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643784356437844GCAA56437843-
NM_001374736.1(DST):c.13243G>A (p.Glu4415Lys)667DSTUncertain significancers976294831RCV000800693; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643785656437856CT6:g.56437856C>T-
NM_001374736.1(DST):c.13239G>T (p.Met4413Ile)667DSTUncertain significancers770123943RCV001241812; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643786056437860CA6:g.56437860C>A-
NM_001374736.1(DST):c.13237-14T>C667DSTLikely benign-1RCV002215406; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643787656437876AG56437876-
NM_001374736.1(DST):c.13237-17T>G667DSTLikely benign-1RCV002125688; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643787956437879AC56437879-
NM_001374736.1(DST):c.13236+20del667DSTBenign-1RCV002125085; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643845756438457CTC56438456-
NM_001374736.1(DST):c.13236T>A (p.Ile4412=)667DSTUncertain significancers773931543RCV001313232; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643847756438477AT56438477-
NM_001374736.1(DST):c.13197A>G (p.Leu4399=)667DSTLikely benign-1RCV002114354; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643851656438516TC56438516-
NM_001374736.1(DST):c.13191G>C (p.Val4397=)667DSTLikely benign-1RCV001421242; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643852256438522CG56438522-
NM_001374736.1(DST):c.13187A>C (p.Gln4396Pro)667DSTUncertain significancers192539811RCV001248594; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643852656438526TG6:g.56438526T>G-
NM_001374736.1(DST):c.13184G>C (p.Gly4395Ala)667DSTUncertain significancers778792290RCV001247058; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643852956438529CG6:g.56438529C>G-
NM_001374736.1(DST):c.13177G>C (p.Glu4393Gln)667DSTUncertain significance-1RCV001933408; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643853656438536CG56438536-
NM_001374736.1(DST):c.13158T>A (p.Asn4386Lys)667DSTUncertain significancers745960567RCV001246804; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643855556438555AT6:g.56438555A>T-
NM_001374736.1(DST):c.13127G>A (p.Gly4376Asp)667DSTUncertain significancers2097817551RCV001246190; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643858656438586CT6:g.56438586C>T-
NM_001374736.1(DST):c.13116T>C (p.Ser4372=)667DSTLikely benign-1RCV002123987; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643859756438597AG56438597-
NM_001374736.1(DST):c.13114A>C (p.Ser4372Arg)667DSTUncertain significancers759292785RCV001246392; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643859956438599TG6:g.56438599T>G-
NM_001374736.1(DST):c.13110A>C (p.Ser4370=)667DSTLikely benign-1RCV002110195; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643860356438603TG56438603-
NM_001374736.1(DST):c.13105C>T (p.Arg4369Cys)667DSTUncertain significance-1RCV002012019; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643860856438608GA56438608-
NM_001374736.1(DST):c.13087C>T (p.Leu4363Phe)667DSTUncertain significance-1RCV001888171; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643862656438626GA56438626-
NM_001374736.1(DST):c.13076G>A (p.Arg4359Gln)667DSTUncertain significance-1RCV001367465; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643863756438637CT56438637-
NM_001374736.1(DST):c.13070A>G (p.Asn4357Ser)667DSTUncertain significance-1RCV001365161; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643864356438643TC56438643-
NM_001374736.1(DST):c.13065T>C (p.Ser4355=)667DSTLikely benign-1RCV002218808; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643864856438648AG56438648-
NM_001374736.1(DST):c.13064C>G (p.Ser4355Cys)667DSTUncertain significancers200280141RCV001241389; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643864956438649GC6:g.56438649G>C-
NM_001374736.1(DST):c.13062G>C (p.Lys4354Asn)667DSTUncertain significance-1RCV001890778; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643865156438651CG56438651-
NM_001374736.1(DST):c.13052A>T (p.Asp4351Val)667DSTUncertain significancers2097818861RCV001244679; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643866156438661TA6:g.56438661T>A-
NM_001374736.1(DST):c.13031A>G (p.Asp4344Gly)667DSTUncertain significancers774089161RCV001346879; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643868256438682TC56438682-
NM_001374736.1(DST):c.13029T>C (p.Asp4343=)667DSTUncertain significance-1RCV001971143; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643868456438684AG56438684-
NM_001374736.1(DST):c.13028-16G>A667DSTBenign/Likely benign-1RCV001787479|RCV002074108; NMedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643870156438701CT56438701-
NM_001374736.1(DST):c.13028-17T>G667DSTLikely benign-1RCV002187699; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643870256438702AC56438702-
NM_001374736.1(DST):c.13027+17C>T667DSTLikely benign-1RCV002188219; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165644359556443595GA56443595-
NM_001374736.1(DST):c.13027+9T>C667DSTLikely benign-1RCV002146212; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165644360356443603AG56443603-
NM_001374736.1(DST):c.13024C>T (p.Leu4342Phe)667DSTUncertain significance-1RCV001935863; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165644361556443615GA56443615-
NM_001374736.1(DST):c.13022C>T (p.Thr4341Ile)667DSTUncertain significancers771859474RCV001239032; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165644361756443617GA6:g.56443617G>A-
NM_001374736.1(DST):c.13006A>G (p.Asn4336Asp)667DSTUncertain significance-1RCV002042470; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165644363356443633TC56443633-
NM_001374736.1(DST):c.12987A>T (p.Gly4329=)667DSTLikely benign-1RCV001416721; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165644365256443652TA56443652-
NM_001374736.1(DST):c.12981C>T (p.Ala4327=)667DSTLikely benign-1RCV001445948; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165644365856443658GA56443658-
NM_001374736.1(DST):c.12980C>G (p.Ala4327Gly)667DSTUncertain significancers2097915078RCV001338683; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165644365956443659GC56443659-
NM_001374736.1(DST):c.12960G>A (p.Thr4320=)667DSTLikely benign-1RCV002096833; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165644367956443679CT56443679-
NM_001374736.1(DST):c.12959C>T (p.Thr4320Met)667DSTUncertain significancers544327450RCV001242389|RCV001508550; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN51720265644368056443680GA6:g.56443680G>A-
NM_001374736.1(DST):c.12940G>A (p.Val4314Ile)667DSTUncertain significancers755123053RCV001317261; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165644369956443699CT56443699-
NM_001374736.1(DST):c.12934G>A (p.Val4312Ile)667DSTUncertain significance-1RCV001991072; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165644370556443705CT56443705-
NM_001374736.1(DST):c.12926G>A (p.Ser4309Asn)667DSTUncertain significancers996264313RCV001239592; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165644371356443713CT6:g.56443713C>T-
NM_001374736.1(DST):c.12922T>C (p.Ser4308Pro)667DSTUncertain significancers778220904RCV001248731; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165644371756443717AG6:g.56443717A>G-
NM_001374736.1(DST):c.12907T>C (p.Leu4303=)667DSTLikely benign-1RCV001391888; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165644373256443732AG56443732-
NM_001374736.1(DST):c.12904-3C>T667DSTUncertain significance-1RCV001913267; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165644373856443738GA56443738-
NM_001374736.1(DST):c.12904-14G>A667DSTLikely benign-1RCV001951643; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165644374956443749CT56443749-
NM_001374736.1(DST):c.12903+19A>T667DSTLikely benign-1RCV002194968; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645696156456961TA56456961-
NM_001374736.1(DST):c.12903+15A>G667DSTLikely benign-1RCV002161281; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645696556456965TC56456965-
NM_001374736.1(DST):c.12903+9_12903+10del667DSTLikely benign-1RCV001439562; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645697056456971TCGT56456969-
NM_001374736.1(DST):c.12903+10G>A667DSTLikely benign-1RCV002141348; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645697056456970CT56456970-
NM_001374736.1(DST):c.12903+9C>T667DSTUncertain significancers775106494RCV001245722; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645697156456971GA6:g.56456971G>A-
NM_001374736.1(DST):c.12899C>G (p.Thr4300Ser)667DSTUncertain significance-1RCV001980628; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645698456456984GC56456984-
NM_001374736.1(DST):c.12896A>G (p.Glu4299Gly)667DSTUncertain significance-1RCV001897818; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645698756456987TC56456987-
NM_001374736.1(DST):c.12888A>G (p.Gln4296=)667DSTLikely benignrs201201114RCV000979590; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645699556456995TC6:g.56456995T>C-
NM_001374736.1(DST):c.12888A>T (p.Gln4296His)667DSTUncertain significancers201201114RCV001245914|RCV001508551; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN51720265645699556456995TA6:g.56456995T>A-
NM_001374736.1(DST):c.12885G>C (p.Arg4295Ser)667DSTUncertain significancers2098289303RCV001303230; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645699856456998CG56456998-
NM_001374736.1(DST):c.12871A>C (p.Lys4291Gln)667DSTUncertain significancers754447113RCV001241931; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645701256457012TG6:g.56457012T>G-
NM_001374736.1(DST):c.12869C>T (p.Pro4290Leu)667DSTUncertain significancers757864438RCV001240216; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645701456457014GA6:g.56457014G>A-
NM_001374736.1(DST):c.12867C>T (p.Asp4289=)667DSTLikely benign-1RCV001412320; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645701656457016GA56457016-
NM_001374736.1(DST):c.12866A>G (p.Asp4289Gly)667DSTUncertain significance-1RCV001975945; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645701756457017TC56457017-
NM_001374736.1(DST):c.12863T>C (p.Val4288Ala)667DSTUncertain significancers2098289659RCV001239168; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645702056457020AG6:g.56457020A>G-
NM_001374736.1(DST):c.12861G>A (p.Ala4287=)667DSTLikely benign-1RCV001402993; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645702256457022CT56457022-
NM_001374736.1(DST):c.12860C>T (p.Ala4287Val)667DSTUncertain significancers760441270RCV001243435; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645702356457023GA6:g.56457023G>A-
NM_001374736.1(DST):c.12847T>C (p.Ser4283Pro)667DSTUncertain significance-1RCV001951850; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645703656457036AG56457036-
NM_001374736.1(DST):c.12843C>T (p.His4281=)667DSTLikely benign-1RCV002118882; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645704056457040GA56457040-
NM_001374736.1(DST):c.12839A>G (p.Lys4280Arg)667DSTConflicting interpretations of pathogenicityrs186813964RCV000979045|RCV001086016; NMedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645704456457044TC6:g.56457044T>C-
NM_001374736.1(DST):c.12834G>A (p.Ala4278=)667DSTLikely benign-1RCV001408347; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645704956457049CT56457049-
NM_001374736.1(DST):c.12833C>T (p.Ala4278Val)667DSTUncertain significancers772339057RCV001238974; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645705056457050GA6:g.56457050G>A-
NM_001374736.1(DST):c.12826G>A (p.Ala4276Thr)667DSTUncertain significance-1RCV001968192; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645705756457057CT56457057-
NM_001374736.1(DST):c.12821G>T (p.Cys4274Phe)667DSTUncertain significance-1RCV001926260; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645706256457062CA56457062-
NM_001374736.1(DST):c.12810A>G (p.Gly4270=)667DSTLikely benign-1RCV002174275; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645707356457073TC56457073-
NM_001374736.1(DST):c.12785A>T (p.Asp4262Val)667DSTUncertain significance-1RCV001937621; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645709856457098TA56457098-
NM_001374736.1(DST):c.12754G>T (p.Asp4252Tyr)667DSTUncertain significancers757177251RCV001247707; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645712956457129CA6:g.56457129C>A-
NM_001374736.1(DST):c.12731A>G (p.Asn4244Ser)667DSTUncertain significancers200672626RCV001239232; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645715256457152TC6:g.56457152T>C-
NM_001374736.1(DST):c.12727-14C>T667DSTLikely benign-1RCV002099824; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645717056457170GA56457170-
NM_001374736.1(DST):c.12726G>A (p.Lys4242=)667DSTUncertain significancers2098327053RCV001248737; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645846156458461CT6:g.56458461C>T-
NM_001374736.1(DST):c.12723T>G (p.Ser4241=)667DSTLikely benign-1RCV001491656; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645846456458464AC56458464-
NM_001374736.1(DST):c.12719A>G (p.Tyr4240Cys)667DSTUncertain significance-1RCV001956823; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645846856458468TC56458468-
NM_001374736.1(DST):c.12704G>A (p.Arg4235Gln)667DSTUncertain significance-1RCV002019397; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645848356458483CT56458483-
NM_001374736.1(DST):c.12703C>T (p.Arg4235Trp)667DSTUncertain significancers778888568RCV001246061; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645848456458484GA6:g.56458484G>A-
NM_001374736.1(DST):c.12703C>G (p.Arg4235Gly)667DSTUncertain significance-1RCV001367405; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645848456458484GC56458484-
NM_001374736.1(DST):c.12701A>G (p.Asp4234Gly)667DSTUncertain significance-1RCV001922338; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645848656458486TC56458486-
NM_001374736.1(DST):c.12690T>G (p.Asp4230Glu)667DSTUncertain significancers914995831RCV001335762; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645849756458497AC56458497-
NM_001374736.1(DST):c.12681C>T (p.Arg4227=)667DSTUncertain significancers2098327553RCV001243632; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645850656458506GA6:g.56458506G>A-
NM_001374736.1(DST):c.12680G>A (p.Arg4227His)667DSTUncertain significancers201346012RCV000810922|RCV001335761|RCV001700462; NMONDO: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:CN51720265645850756458507CT6:g.56458507C>T-
NM_001374736.1(DST):c.12631_12645del (p.Arg4211_Lys4215del)667DSTUncertain significancers763288106RCV001240787; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645854256458556CCTTGCCACCGTCTCTC6:g.56458542_56458556del-
NM_001374736.1(DST):c.12637G>A (p.Gly4213Ser)667DSTUncertain significance-1RCV001926807; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645855056458550CT56458550-
NM_001374736.1(DST):c.12636C>T (p.Asp4212=)667DSTBenignrs74609186RCV000979188; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645855156458551GA6:g.56458551G>A-
NM_001374736.1(DST):c.12633A>G (p.Arg4211=)667DSTLikely benign-1RCV001419516; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645855456458554TC56458554-
NM_001374736.1(DST):c.12627C>G (p.Ser4209Arg)667DSTUncertain significancers1259234822RCV001245302; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645856056458560GC6:g.56458560G>C-
NM_001374736.1(DST):c.12618A>G (p.Lys4206=)667DSTBenignrs376162444RCV000979582; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645856956458569TC6:g.56458569T>C-
NM_001374736.1(DST):c.12593G>T (p.Gly4198Val)667DSTUncertain significance-1RCV001920929; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645859456458594CA56458594-
NM_001374736.1(DST):c.12562A>G (p.Lys4188Glu)667DSTUncertain significance-1RCV001989407; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645862556458625TC56458625-
NM_001374736.1(DST):c.12549C>T (p.Asp4183=)667DSTLikely benign-1RCV001485776; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645863856458638GA56458638-
NM_001374736.1(DST):c.12548A>G (p.Asp4183Gly)667DSTUncertain significancers1462100722RCV000797036; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645863956458639TC6:g.56458639T>C-
NM_001374736.1(DST):c.12546A>G (p.Glu4182=)667DSTLikely benign-1RCV001482977; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645864156458641TC56458641-
NM_001374736.1(DST):c.12536G>C (p.Ser4179Thr)667DSTUncertain significancers2098329229RCV001242890; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645865156458651CG6:g.56458651C>G-
NM_001374736.1(DST):c.12514A>G (p.Thr4172Ala)667DSTUncertain significancers1209088760RCV001240146; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645867356458673TC6:g.56458673T>C-
NM_001374736.1(DST):c.12488G>A (p.Gly4163Asp)667DSTUncertain significancers781152141RCV001508552|RCV001242388; NMedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645869956458699CT6:g.56458699C>T-
NM_001374736.1(DST):c.12487G>A (p.Gly4163Ser)667DSTUncertain significancers748277363RCV001244753; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645870056458700CT6:g.56458700C>T-
NM_001374736.1(DST):c.12484G>A (p.Ala4162Thr)667DSTUncertain significancers141048754RCV001346122; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645870356458703CT56458703-
NM_001374736.1(DST):c.12473A>G (p.Glu4158Gly)667DSTUncertain significancers749444940RCV001240067; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645871456458714TC6:g.56458714T>C-
NM_001374736.1(DST):c.12471T>G (p.Leu4157=)667DSTLikely benign-1RCV001440075; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645871656458716AC56458716-
NM_001374736.1(DST):c.12469C>T (p.Leu4157Phe)667DSTUncertain significancers554822347RCV001248733; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645871856458718GA6:g.56458718G>A-
NM_001374736.1(DST):c.12433G>A (p.Glu4145Lys)667DSTUncertain significancers752961020RCV001245305; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645875456458754CT6:g.56458754C>T-
NM_001374736.1(DST):c.12428A>C (p.Tyr4143Ser)667DSTUncertain significance-1RCV002039098; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645875956458759TG56458759-
NM_001374736.1(DST):c.12420T>C (p.Asp4140=)667DSTLikely benign-1RCV002075373; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645876756458767AG56458767-
NM_001374736.1(DST):c.12400G>A (p.Glu4134Lys)667DSTUncertain significance-1RCV001903973; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645878756458787CT56458787-
NM_001374736.1(DST):c.12390C>G (p.His4130Gln)667DSTUncertain significancers764958407RCV001239865; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645879756458797GC6:g.56458797G>C-
NM_001374736.1(DST):c.12388C>G (p.His4130Asp)667DSTUncertain significancers772590922RCV001243231; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645879956458799GC6:g.56458799G>C-
NM_001374736.1(DST):c.12388C>T (p.His4130Tyr)667DSTUncertain significancers772590922RCV001350145; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645879956458799GA56458799-
NM_001374736.1(DST):c.12363G>A (p.Glu4121=)667DSTLikely benign-1RCV002204873; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645882456458824CT56458824-
NM_001374736.1(DST):c.12354A>T (p.Ala4118=)667DSTLikely benign-1RCV001444182; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645883356458833TA56458833-
NM_001374736.1(DST):c.12351T>G (p.Thr4117=)667DSTBenign/Likely benignrs16888032RCV000979009|RCV001847119; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265645883656458836AC6:g.56458836A>C-
NM_001374736.1(DST):c.12333G>A (p.Leu4111=)667DSTLikely benign-1RCV002156909; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645885456458854CT56458854-
NM_001374736.1(DST):c.12327G>A (p.Lys4109=)667DSTLikely benign-1RCV002170051; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645886056458860CT56458860-
NM_001374736.1(DST):c.12323T>C (p.Met4108Thr)667DSTUncertain significance-1RCV002002088; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645886456458864AG56458864-
NM_001374736.1(DST):c.12322A>G (p.Met4108Val)667DSTUncertain significancers1272703082RCV001326124; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645886556458865TC56458865-
NM_001374736.1(DST):c.12307A>G (p.Lys4103Glu)667DSTUncertain significancers749297410RCV001243301; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645888056458880TC6:g.56458880T>C-
NM_001374736.1(DST):c.12292C>G (p.Pro4098Ala)667DSTUncertain significancers368463876RCV001341506; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645889556458895GC56458895-
NM_001374736.1(DST):c.12256C>G (p.Gln4086Glu)667DSTUncertain significancers1463381470RCV001317584; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645893156458931GC56458931-
NM_001374736.1(DST):c.12244A>G (p.Thr4082Ala)667DSTUncertain significance-1RCV001943294; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645894356458943TC56458943-
NM_001374736.1(DST):c.12238A>G (p.Ile4080Val)667DSTUncertain significancers200855949RCV001295127|RCV001311723; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN51720265645894956458949TC56458949-
NM_001374736.1(DST):c.12220C>G (p.Gln4074Glu)667DSTUncertain significancers1400251833RCV001243495; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645896756458967GC6:g.56458967G>C-
NM_001374736.1(DST):c.12218C>T (p.Ser4073Phe)667DSTUncertain significancers1277292455RCV001239444|RCV001726463; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN51720265645896956458969GA6:g.56458969G>A-
NM_001374736.1(DST):c.12214A>T (p.Ile4072Phe)667DSTUncertain significance-1RCV002050261; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645897356458973TA56458973-
NM_001374736.1(DST):c.12210G>T (p.Lys4070Asn)667DSTUncertain significancers778224745RCV001240789; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645897756458977CA6:g.56458977C>A-
NM_001374736.1(DST):c.12205G>A (p.Glu4069Lys)667DSTUncertain significancers774002432RCV001243230; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645898256458982CT6:g.56458982C>T-
NM_001374736.1(DST):c.12201A>G (p.Gln4067=)667DSTLikely benign-1RCV002110850; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165645898656458986TC56458986-
NC_000006.11:g.(?_56459785)_(56462879_?)del667DSTUncertain significance-1RCV002016889; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165645978556462879nana-1-
NM_001374736.1(DST):c.12159T>G (p.Thr4053=)667DSTLikely benignrs369432519RCV000981953; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646257456462574AC6:g.56462574A>C-
NM_001374736.1(DST):c.12132T>G (p.Thr4044=)667DSTLikely benign-1RCV001979884; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646260156462601AC56462601-
NM_001374736.1(DST):c.12113A>G (p.Asn4038Ser)667DSTUncertain significance-1RCV001965312; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646262056462620TC56462620-
NM_001374736.1(DST):c.12109G>A (p.Val4037Ile)667DSTUncertain significance-1RCV002038839; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646262456462624CT56462624-
NM_001374736.1(DST):c.12104A>T (p.Asp4035Val)667DSTUncertain significancers2098406131RCV001248659; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646262956462629TA6:g.56462629T>A-
NM_001374736.1(DST):c.12095G>T (p.Gly4032Val)667DSTUncertain significance-1RCV001915711; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646263856462638CA56462638-
NM_001374736.1(DST):c.12092T>C (p.Ile4031Thr)667DSTUncertain significance-1RCV002012172; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646264156462641AG56462641-
NM_001374736.1(DST):c.12091A>G (p.Ile4031Val)667DSTUncertain significancers200798191RCV000821597; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646264256462642TC6:g.56462642T>C-
NM_001374736.1(DST):c.12089C>T (p.Ala4030Val)667DSTUncertain significancers768494219RCV001337816; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646264456462644GA56462644-
NM_001374736.1(DST):c.12055G>A (p.Gly4019Arg)667DSTUncertain significancers540399392RCV001245511; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646267856462678CT6:g.56462678C>T-
NM_001374736.1(DST):c.12043A>T (p.Ile4015Phe)667DSTUncertain significancers201249286RCV000820809|RCV000998636; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN51720265646269056462690TA6:g.56462690T>A-
NM_001374736.1(DST):c.12043A>G (p.Ile4015Val)667DSTUncertain significancers201249286RCV001241533; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646269056462690TC6:g.56462690T>C-
NM_001374736.1(DST):c.12005A>C (p.Lys4002Thr)667DSTUncertain significancers747125039RCV001239299; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646272856462728TG6:g.56462728T>G-
NM_001374736.1(DST):c.11995A>G (p.Asn3999Asp)667DSTUncertain significancers763176189RCV001241387; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646273856462738TC6:g.56462738T>C-
NM_001374736.1(DST):c.11980T>C (p.Leu3994=)667DSTLikely benign-1RCV002185383; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646275356462753AG56462753-
NM_001374736.1(DST):c.11965A>G (p.Lys3989Glu)667DSTUncertain significancers768047839RCV001239099; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646276856462768TC6:g.56462768T>C-
NM_001374736.1(DST):c.11964C>T (p.Thr3988=)667DSTLikely benign-1RCV001408402; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646276956462769GA56462769-
NM_001374736.1(DST):c.11950G>A (p.Glu3984Lys)667DSTUncertain significancers753208447RCV001247639; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646278356462783CT6:g.56462783C>T-
NM_001374736.1(DST):c.11949G>A (p.Leu3983=)667DSTLikely benign-1RCV001431541; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646278456462784CT56462784-
NM_001374736.1(DST):c.11941A>C (p.Lys3981Gln)667DSTUncertain significancers149342331RCV001245365; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646279256462792TG6:g.56462792T>G-
NM_001374736.1(DST):c.11928+7A>G667DSTLikely benign-1RCV002174151; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646326756463267TC56463267-
NM_001374736.1(DST):c.11928+5T>G667DSTUncertain significancers2098413513RCV001300085; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646326956463269AC56463269-
NM_001374736.1(DST):c.11928+1G>A667DSTLikely pathogenic-1RCV002042581; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646327356463273CT56463273-
NM_001374736.1(DST):c.11911A>C (p.Lys3971Gln)667DSTUncertain significancers939547269RCV001313558; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646329156463291TG56463291-
NM_001374736.1(DST):c.11907A>C (p.Ala3969=)667DSTLikely benign-1RCV002204883; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646329556463295TG56463295-
NM_001374736.1(DST):c.11903C>T (p.Thr3968Ile)667DSTUncertain significancers2098413772RCV001312557; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646329956463299GA56463299-
NM_001374736.1(DST):c.11875A>G (p.Lys3959Glu)667DSTUncertain significance-1RCV001909712; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646332756463327TC56463327-
NM_001374736.1(DST):c.11863G>A (p.Ala3955Thr)667DSTUncertain significancers751130956RCV001242757; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646333956463339CT6:g.56463339C>T-
NM_001374736.1(DST):c.11837T>A (p.Ile3946Lys)667DSTUncertain significancers1475439102RCV001343515; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646336556463365AT56463365-
NM_001374736.1(DST):c.11836A>G (p.Ile3946Val)667DSTUncertain significance-1RCV002036191; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646336656463366TC56463366-
NM_001374736.1(DST):c.11831C>A (p.Ala3944Asp)667DSTUncertain significancers181057912RCV001324850; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646337156463371GT56463371-
NM_001374736.1(DST):c.11792A>G (p.Gln3931Arg)667DSTBenignrs4712138RCV000602729|RCV001510451|RCV001597185|RCV001662665|RCV001700176; NMONDO: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|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615465646341056463410TC6:g.56463410T>CClinGen:CA3868574C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.11760CTT[1] (p.Phe3921del)667DSTUncertain significancers754940406RCV001244952; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646343756463439TAAGT6:g.56463437_56463439del-
NM_001374736.1(DST):c.11762T>G (p.Phe3921Cys)667DSTUncertain significancers1276270340RCV001321374; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646344056463440AC56463440-
NM_001374736.1(DST):c.11745G>A (p.Val3915=)667DSTLikely benign-1RCV001472126; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646345756463457CT56463457-
NM_001374736.1(DST):c.11736T>C (p.Ala3912=)667DSTLikely benign-1RCV002201758; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646346656463466AG56463466-
NM_001374736.1(DST):c.11719A>G (p.Ser3907Gly)667DSTUncertain significance-1RCV002016202; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646348356463483TC56463483-
NM_001374736.1(DST):c.11704A>G (p.Lys3902Glu)667DSTUncertain significancers375330871RCV001343513; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646349856463498TC56463498-
NM_001374736.1(DST):c.11700A>G (p.Leu3900=)667DSTLikely benign-1RCV002142791; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646350256463502TC56463502-
NM_001374736.1(DST):c.11695-10G>A667DSTLikely benign-1RCV001407231; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646351756463517CT56463517-
NM_001374736.1(DST):c.11694+16C>G667DSTBenign-1RCV002138779; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646485156464851GC56464851-
NM_001374736.1(DST):c.11694+14T>A667DSTLikely benign-1RCV002135307; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646485356464853AT56464853-
NM_001374736.1(DST):c.11694+11G>T667DSTBenign-1RCV002146050; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646485656464856CA56464856-
NM_001374736.1(DST):c.11694+1_11694+2dup667DSTUncertain significancers752591146RCV001248400; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646486456464865TTAC6:g.56464864_56464865insAC-
NM_001374736.1(DST):c.11681A>C (p.Gln3894Pro)667DSTUncertain significancers201696158RCV000805934; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646488056464880TG6:g.56464880T>G-
NM_001374736.1(DST):c.11679T>C (p.Tyr3893=)667DSTLikely benign-1RCV001422569; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646488256464882AG56464882-
NM_001374736.1(DST):c.11678A>G (p.Tyr3893Cys)667DSTUncertain significancers1276750380RCV001246926; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646488356464883TC6:g.56464883T>C-
NM_001374736.1(DST):c.11658C>A (p.Gly3886=)667DSTLikely benign-1RCV001483459; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646490356464903GT56464903-
NM_001374736.1(DST):c.11648T>C (p.Ile3883Thr)667DSTUncertain significancers536027788RCV001243436; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646491356464913AG6:g.56464913A>G-
NM_001374736.1(DST):c.11642T>C (p.Phe3881Ser)667DSTUncertain significance-1RCV001959746; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646491956464919AG56464919-
NM_001374736.1(DST):c.11617C>T (p.Arg3873Cys)667DSTUncertain significance-1RCV001912523; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646494456464944GA56464944-
NM_001374736.1(DST):c.11616C>T (p.Asn3872=)667DSTLikely benign-1RCV002153245; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646494556464945GA56464945-
NM_001374736.1(DST):c.11594A>G (p.Asp3865Gly)667DSTUncertain significance-1RCV001946334; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646496756464967TC56464967-
NM_001374736.1(DST):c.11581C>G (p.Gln3861Glu)667DSTUncertain significance-1RCV002035780; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646498056464980GC56464980-
NM_001374736.1(DST):c.11567A>G (p.Tyr3856Cys)667DSTUncertain significance-1RCV001982201; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646499456464994TC56464994-
NM_001374736.1(DST):c.11555G>A (p.Arg3852His)667DSTUncertain significance-1RCV001957668; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646500656465006CT56465006-
NM_001374736.1(DST):c.11548G>A (p.Ala3850Thr)667DSTUncertain significance-1RCV001910685; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646501356465013CT56465013-
NM_001374736.1(DST):c.11542-8C>T667DSTConflicting interpretations of pathogenicityrs370887046RCV000979358|RCV001085665; NMedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165646502756465027GA6:g.56465027G>A-
NM_001374736.1(DST):c.11542-9T>A667DSTUncertain significance-1RCV001928960; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165646502856465028AT56465028-
NM_001374736.1(DST):c.5283G>A (p.Lys1761=)667DSTUncertain significancers1212618868RCV001243369; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647522556475225CT6:g.56475225C>T-
NM_001374736.1(DST):c.5275G>C (p.Glu1759Gln)667DSTUncertain significance-1RCV001919239; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647523356475233CG56475233-
NM_001374736.1(DST):c.5272G>A (p.Val1758Ile)667DSTUncertain significancers1554488238RCV000626087|RCV001301178; NMONDO: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:31438165647523656475236CT6:g.56475236C>TClinGen:CA364561073C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.5271G>C (p.Lys1757Asn)667DSTUncertain significancers1182335902RCV001241316; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647523756475237CG6:g.56475237C>G-
NM_001374736.1(DST):c.5266G>A (p.Val1756Ile)667DSTUncertain significance-1RCV002020865; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647524256475242CT56475242-
NM_001374736.1(DST):c.5265T>C (p.Asp1755=)667DSTLikely benign-1RCV002091010; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647524356475243AG56475243-
NM_001374736.1(DST):c.5258C>T (p.Ser1753Leu)667DSTUncertain significancers765577622RCV001245436; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647525056475250GA6:g.56475250G>A-
NM_001374736.1(DST):c.5244A>G (p.Gln1748=)667DSTLikely benign-1RCV002103963; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165647526456475264TC56475264-
NM_001374736.1(DST):c.5243A>C (p.Gln1748Pro)667DSTBenign-1RCV001517024|RCV001615196; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265647526556475265TG56475265-
NM_001374736.1(DST):c.5234A>C (p.Lys1745Thr)667DSTUncertain significancers540084594RCV001242758; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647527456475274TG6:g.56475274T>G-
NM_001374736.1(DST):c.5230C>A (p.Leu1744Met)667DSTUncertain significance-1RCV001367019; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165647527856475278GT56475278-
NM_001374736.1(DST):c.5207A>G (p.Tyr1736Cys)667DSTUncertain significance-1RCV001989947; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647530156475301TC56475301-
NM_001374736.1(DST):c.5203A>G (p.Ser1735Gly)667DSTUncertain significancers369218541RCV001295128; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647530556475305TC56475305-
NM_001374736.1(DST):c.5200G>A (p.Glu1734Lys)667DSTUncertain significance-1RCV002012452; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165647530856475308CT56475308-
NM_001374736.1(DST):c.5199G>A (p.Gln1733=)667DSTLikely benignrs552582917RCV001171863|RCV001480170; NMedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165647530956475309CT6:g.56475309C>T-
NM_001374736.1(DST):c.5186T>G (p.Val1729Gly)667DSTUncertain significance-1RCV001962705; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647532256475322AC56475322-
NM_001374736.1(DST):c.5185G>A (p.Val1729Met)667DSTUncertain significancers1236005807RCV001301994; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647532356475323CT56475323-
NM_001374736.1(DST):c.5182C>A (p.Gln1728Lys)667DSTUncertain significancers768721876RCV001244361|RCV001508553; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN51720265647532656475326GT6:g.56475326G>T-
NM_001374736.1(DST):c.5173T>C (p.Leu1725=)667DSTLikely benign-1RCV001403840; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647533556475335AG56475335-
NM_001374736.1(DST):c.5165G>T (p.Arg1722Ile)667DSTUncertain significance-1RCV002029579; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647534356475343CA56475343-
NM_001374736.1(DST):c.5155G>A (p.Asp1719Asn)667DSTUncertain significancers770222634RCV001242820; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647535356475353CT6:g.56475353C>T-
NM_001374736.1(DST):c.5148-6A>G667DSTLikely benign-1RCV002083530; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647536656475366TC56475366-
NM_001374736.1(DST):c.5148-8T>C667DSTLikely benign-1RCV001506757; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647536856475368AG56475368-
NM_001374736.1(DST):c.5145C>T (p.Asp1715=)667DSTUncertain significancers374134272RCV001246655; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647630856476308GA6:g.56476308G>A-
NM_001374736.1(DST):c.5110C>G (p.Gln1704Glu)667DSTUncertain significancers2098544919RCV001300051; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165647634356476343GC56476343-
NM_001374736.1(DST):c.5106A>C (p.Ala1702=)667DSTLikely benign-1RCV001453041; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165647634756476347TG56476347-
NM_001374736.1(DST):c.5100G>A (p.Ser1700=)667DSTLikely benign-1RCV001499833; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165647635356476353CT56476353-
NM_001374736.1(DST):c.5099C>T (p.Ser1700Leu)667DSTUncertain significancers763411218RCV001240788; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647635456476354GA6:g.56476354G>A-
NM_001374736.1(DST):c.5098T>C (p.Ser1700Pro)667DSTUncertain significancers369856118RCV001301239; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647635556476355AG56476355-
NM_001374736.1(DST):c.5088G>A (p.Lys1696=)667DSTLikely benign-1RCV001497647; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165647636556476365CT56476365-
NM_001374736.1(DST):c.5083A>G (p.Lys1695Glu)667DSTUncertain significancers1447313948RCV001241195; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647637056476370TC6:g.56476370T>C-
NM_001374736.1(DST):c.5081C>T (p.Thr1694Ile)667DSTUncertain significance-1RCV002042965; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647637256476372GA56476372-
NM_001374736.1(DST):c.5077T>C (p.Ser1693Pro)667DSTUncertain significancers763799764RCV001243018; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647637656476376AG6:g.56476376A>G-
NM_001374736.1(DST):c.5076dup (p.Ser1693fs)667DSTPathogenicrs2098545189RCV001239927; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165647637656476377AAT6:g.56476376_56476377insT-
NM_001374736.1(DST):c.5059-17C>G667DSTBenign-1RCV001699615|RCV001703328|RCV002077128; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647641156476411GC56476411-
NM_001374736.1(DST):c.5058+9A>G667DSTLikely benign-1RCV002185149; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165647914556479145TC56479145-
NM_001374736.1(DST):c.5048C>G (p.Ser1683Cys)667DSTUncertain significance-1RCV001366246; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165647916456479164GC56479164-
NM_001374736.1(DST):c.5040T>A (p.Pro1680=)667DSTLikely benign-1RCV002039023; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647917256479172AT56479172-
NM_001374736.1(DST):c.5033G>C (p.Gly1678Ala)667DSTUncertain significancers751524469RCV001246459; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647917956479179CG6:g.56479179C>G-
NM_001374736.1(DST):c.5029G>T (p.Ala1677Ser)667DSTUncertain significancers370590691RCV000801146|RCV001759524; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265647918356479183CA6:g.56479183C>A-
NM_001374736.1(DST):c.5015A>C (p.Lys1672Thr)667DSTUncertain significance-1RCV002003699; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165647919756479197TG56479197-
NM_001374736.1(DST):c.5006A>G (p.Lys1669Arg)667DSTUncertain significance-1RCV002024235; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647920656479206TC56479206-
NM_001374736.1(DST):c.4999A>G (p.Ile1667Val)667DSTUncertain significancers756231158RCV001243699; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647921356479213TC6:g.56479213T>C-
NM_001374736.1(DST):c.4997A>T (p.Asn1666Ile)667DSTConflicting interpretations of pathogenicityrs183804748RCV000872150|RCV001086044; NMedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165647921556479215TA6:g.56479215T>A-
NM_001374736.1(DST):c.4990G>T (p.Val1664Leu)667DSTBenign/Likely benignrs76257231RCV000872213|RCV001785746; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN51720265647922256479222CA6:g.56479222C>A-
NM_001374736.1(DST):c.4958A>G (p.His1653Arg)667DSTUncertain significance-1RCV001876888; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165647925456479254TC56479254-
NM_001374736.1(DST):c.4930-11A>G667DSTLikely benign-1RCV002082154; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647929356479293TC56479293-
NM_001374736.1(DST):c.4930-300A>T667DSTLikely benignrs75951731RCV000358324; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647958256479582TA6:g.56479582T>AClinGen:CA10627280C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.4930-367C>T667DSTUncertain significancers150986597RCV000268213; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647964956479649GA6:g.56479649G>AClinGen:CA10622489C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.4930-428G>A667DSTUncertain significancers886061640RCV000323446; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647971056479710CT6:g.56479710C>TClinGen:CA10624437C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.4930-430A>G667DSTUncertain significancers140470023RCV000373387; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647971256479712TCNC_000006.11:g.56479712T>CClinGen:CA10622490C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.4930-438G>C667DSTUncertain significancers145471325RCV000259792; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647972056479720CGNC_000006.11:g.56479720C>GClinGen:CA10624438C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.4930-460A>G667DSTUncertain significancers886061641RCV000319691; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647974256479742TCNC_000006.11:g.56479742T>CClinGen:CA10627296C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.4930-620A>C667DSTUncertain significancers886061642RCV000374394; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647990256479902TGNC_000006.11:g.56479902T>GClinGen:CA10624439C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.4930-651G>A667DSTUncertain significancers116219382RCV000294052; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165647993356479933CTNC_000006.11:g.56479933C>TClinGen:CA10622496C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.4930-772_4930-771dup667DSTBenignrs3841165RCV000389754|RCV001683423; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN51720265648005256480053TTAANC_000006.11:g.56480062_56480063dupClinGen:CA10627286C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.4930-771dup667DSTBenignrs3841165RCV000349231|RCV001675867; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN51720265648005256480053TTANC_000006.11:g.56480063dupClinGen:CA10627297C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.4930-864A>C667DSTConflicting interpretations of pathogenicityrs17674547RCV000295359|RCV001731629; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN51720265648014656480146TGNC_000006.11:g.56480146T>GClinGen:CA10627287C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.4930-984G>A667DSTUncertain significancers77216326RCV000345667; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165648026656480266CTNC_000006.11:g.56480266C>TClinGen:CA3869861C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.4930-1037C>T667DSTUncertain significancers773910675RCV000814990; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165648031956480319GA6:g.56480319G>A-
NM_001374736.1(DST):c.4930-1043A>G667DSTUncertain significancers759049357RCV000651738; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165648032556480325TC6:g.56480325T>CClinGen:CA364561909C3809470 615425 Epidermolysis bullosa simplex, autosomal recessive 2;
NM_001374736.1(DST):c.4930-1049T>C667DSTUncertain significancers374732834RCV000651724; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165648033156480331AGNC_000006.11:g.56480331A>GClinGen:CA139204878C3809470 615425 Epidermolysis bullosa simplex, autosomal recessive 2;
NM_001374736.1(DST):c.4930-1051C>A667DSTUncertain significancers1187500129RCV001233780; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165648033356480333GT6:g.56480333G>T-
NM_001374736.1(DST):c.4930-1051C>T667DSTLikely benign-1RCV002209704; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656480333