Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_015629.3(PRPF31):c.527+3A>G | 26121 | PRPF31 | Pathogenic | 587776590 | RCV000004608; | N | MedGen:C1838601,OMIM:600138 | 19 | 54626942 | 54626942 | NM_015629.3:c.527+3A>G | | 19:g.54626942A>G | OMIM Allelic Variant:606419.0003 | C1838601 600138 Retinitis pigmentosa 11 | | |
NM_015629.3(PRPF31):c.581C>A (p.Ala194Glu) | 26121 | PRPF31 | Pathogenic | 119475043 | RCV000004610; | N | MedGen:C1838601,OMIM:600138 | 19 | 54627181 | 54627181 | NM_015629.3:c.581C>A | NP_056444.3:p.Ala194Glu | NC_000019.9:g.54627181C>A | OMIM Allelic Variant:606419.0005 | C1838601 600138 Retinitis pigmentosa 11 | | |
NM_015629.3(PRPF31):c.646G>C (p.Ala216Pro) | 26121 | PRPF31 | Pathogenic | 119475042 | RCV000004607; | N | MedGen:C1838601,OMIM:600138 | 19 | 54627246 | 54627246 | NM_015629.3:c.646G>C | NP_056444.3:p.Ala216Pro | NC_000019.9:g.54627246G>C | OMIM Allelic Variant:606419.0002 | C1838601 600138 Retinitis pigmentosa 11 | | |
NM_015629.3(PRPF31):c.1073+1G>A | 26121 | PRPF31 | Pathogenic | 794727001 | RCV000173871; | N | MedGen:C1838601,OMIM:600138 | 19 | 54631576 | 54631576 | NM_015629.3:c.1073+1G>A | | NC_000019.9:g.54631576G>A | - | C1838601 600138 Retinitis pigmentosa 11 | | |
NM_015629.3(PRPF31):c.1115_1125delGGAAGCAGGCC (p.Arg372Glnfs) | 26121 | PRPF31 | Pathogenic | 587776589 | RCV000004606; | N | MedGen:C1838601,OMIM:600138 | 19 | 54631721 | 54631731 | NM_015629.3:c.1115_1125delGGAAGCAGGCC | NP_056444.3:p.Arg372Glnfs | | OMIM Allelic Variant:606419.0001 | C1838601 600138 Retinitis pigmentosa 11 | | |
NM_015629.3(PRPF31):c.1273C>T (p.Gln425Ter) | 26121 | PRPF31 | Pathogenic | 727504107 | RCV000153774; | N | MedGen:C1838601,OMIM:600138 | 19 | 54632558 | 54632558 | NM_015629.3:c.1273C>T | NP_056444.3:p.Gln425Ter | NC_000019.9:g.54632558C>T | - | C1838601 600138 Retinitis pigmentosa 11 | | |
NM_015629.3(PRPF31):c.1374+654C>G | 26121 | PRPF31 | Pathogenic | 587776591 | RCV000004614; | N | MedGen:C1838601,OMIM:600138 | 19 | 54633399 | 54633399 | NM_015629.3:c.1374+654C>G | | 19:g.54633399C>G | OMIM Allelic Variant:606419.0009 | C1838601 600138 Retinitis pigmentosa 11 | | |