ClinVar Miner

List of variants studied for biliary tract disorder by Gilbert/Spinner Lab, Children's Hospital of Philadelphia

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 486
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.894T>C (p.Asn298=) rs149897344 0.00039
NM_000214.3(JAG1):c.82G>C (p.Val28Leu) rs142855305 0.00031
NM_000214.3(JAG1):c.27G>C (p.Arg9=) rs766143399 0.00004
NM_000214.3(JAG1):c.389G>A (p.Arg130Lys) rs1409103181 0.00001
NM_000214.3(JAG1):c.390G>A (p.Arg130=) rs1417166073 0.00001
NM_000214.3(JAG1):c.100C>G (p.Gln34Glu)
NM_000214.3(JAG1):c.101A>C (p.Gln34Pro) rs1555830973
NM_000214.3(JAG1):c.103T>C (p.Phe35Leu)
NM_000214.3(JAG1):c.104T>A (p.Phe35Tyr)
NM_000214.3(JAG1):c.104T>C (p.Phe35Ser)
NM_000214.3(JAG1):c.104T>G (p.Phe35Cys)
NM_000214.3(JAG1):c.105C>G (p.Phe35Leu)
NM_000214.3(JAG1):c.106G>A (p.Glu36Lys)
NM_000214.3(JAG1):c.106G>C (p.Glu36Gln)
NM_000214.3(JAG1):c.107A>G (p.Glu36Gly)
NM_000214.3(JAG1):c.108G>C (p.Glu36Asp)
NM_000214.3(JAG1):c.110T>C (p.Leu37Ser) rs121918352
NM_000214.3(JAG1):c.113A>C (p.Glu38Ala)
NM_000214.3(JAG1):c.114G>C (p.Glu38Asp)
NM_000214.3(JAG1):c.115A>C (p.Ile39Leu)
NM_000214.3(JAG1):c.116T>A (p.Ile39Asn) rs2067508041
NM_000214.3(JAG1):c.116T>C (p.Ile39Thr)
NM_000214.3(JAG1):c.116T>G (p.Ile39Ser)
NM_000214.3(JAG1):c.118C>G (p.Leu40Val)
NM_000214.3(JAG1):c.120G>C (p.Leu40=) rs1000010346
NM_000214.3(JAG1):c.122C>G (p.Ser41Cys)
NM_000214.3(JAG1):c.123C>G (p.Ser41=)
NM_000214.3(JAG1):c.124A>G (p.Met42Val)
NM_000214.3(JAG1):c.126G>C (p.Met42Ile)
NM_000214.3(JAG1):c.127C>A (p.Gln43Lys)
NM_000214.3(JAG1):c.127C>G (p.Gln43Glu)
NM_000214.3(JAG1):c.128A>C (p.Gln43Pro)
NM_000214.3(JAG1):c.129G>C (p.Gln43His)
NM_000214.3(JAG1):c.130A>G (p.Asn44Asp)
NM_000214.3(JAG1):c.131A>G (p.Asn44Ser)
NM_000214.3(JAG1):c.133G>C (p.Val45Leu)
NM_000214.3(JAG1):c.135G>C (p.Val45=)
NM_000214.3(JAG1):c.137A>G (p.Asn46Ser)
NM_000214.3(JAG1):c.138C>G (p.Asn46Lys)
NM_000214.3(JAG1):c.139G>C (p.Gly47Arg)
NM_000214.3(JAG1):c.140G>C (p.Gly47Ala)
NM_000214.3(JAG1):c.143A>C (p.Glu48Ala)
NM_000214.3(JAG1):c.144G>C (p.Glu48Asp)
NM_000214.3(JAG1):c.147G>C (p.Leu49=)
NM_000214.3(JAG1):c.149A>C (p.Gln50Pro)
NM_000214.3(JAG1):c.151A>T (p.Asn51Tyr)
NM_000214.3(JAG1):c.152A>G (p.Asn51Ser)
NM_000214.3(JAG1):c.153C>A (p.Asn51Lys)
NM_000214.3(JAG1):c.156G>C (p.Gly52=)
NM_000214.3(JAG1):c.157A>C (p.Asn53His)
NM_000214.3(JAG1):c.158A>G (p.Asn53Ser)
NM_000214.3(JAG1):c.160T>C (p.Cys54Arg)
NM_000214.3(JAG1):c.164G>A (p.Cys55Tyr)
NM_000214.3(JAG1):c.165C>G (p.Cys55Trp)
NM_000214.3(JAG1):c.166G>C (p.Gly56Arg)
NM_000214.3(JAG1):c.220T>A (p.Tyr74Asn)
NM_000214.3(JAG1):c.220T>G (p.Tyr74Asp)
NM_000214.3(JAG1):c.224T>A (p.Phe75Tyr)
NM_000214.3(JAG1):c.224T>G (p.Phe75Cys)
NM_000214.3(JAG1):c.225C>A (p.Phe75Leu) rs1600196460
NM_000214.3(JAG1):c.230T>A (p.Val77Glu)
NM_000214.3(JAG1):c.232T>A (p.Cys78Ser)
NM_000214.3(JAG1):c.232T>C (p.Cys78Arg) rs1600196455
NM_000214.3(JAG1):c.232T>G (p.Cys78Gly) rs1600196455
NM_000214.3(JAG1):c.233G>C (p.Cys78Ser) rs1555830957
NM_000214.3(JAG1):c.233G>T (p.Cys78Phe)
NM_000214.3(JAG1):c.234C>G (p.Cys78Trp)
NM_000214.3(JAG1):c.235C>T (p.Leu79Phe)
NM_000214.3(JAG1):c.236T>A (p.Leu79His)
NM_000214.3(JAG1):c.236T>C (p.Leu79Pro)
NM_000214.3(JAG1):c.236T>G (p.Leu79Arg)
NM_000214.3(JAG1):c.23G>C (p.Gly8Ala)
NM_000214.3(JAG1):c.250T>A (p.Ser84Thr)
NM_000214.3(JAG1):c.260C>G (p.Thr87Arg)
NM_000214.3(JAG1):c.275G>C (p.Cys92Ser)
NM_000214.3(JAG1):c.275G>T (p.Cys92Phe)
NM_000214.3(JAG1):c.276C>G (p.Cys92Trp)
NM_000214.3(JAG1):c.279C>A (p.Ser93Arg)
NM_000214.3(JAG1):c.282C>A (p.Phe94Leu)
NM_000214.3(JAG1):c.283G>A (p.Gly95Ser)
NM_000214.3(JAG1):c.283G>C (p.Gly95Arg)
NM_000214.3(JAG1):c.283G>T (p.Gly95Cys)
NM_000214.3(JAG1):c.284G>T (p.Gly95Val)
NM_000214.3(JAG1):c.28T>G (p.Ser10Ala)
NM_000214.3(JAG1):c.294C>G (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.295A>G (p.Thr99Ala)
NM_000214.3(JAG1):c.296C>A (p.Thr99Lys)
NM_000214.3(JAG1):c.296C>G (p.Thr99Arg)
NM_000214.3(JAG1):c.302T>A (p.Val101Asp)
NM_000214.3(JAG1):c.304A>G (p.Ile102Val)
NM_000214.3(JAG1):c.305T>A (p.Ile102Asn)
NM_000214.3(JAG1):c.315C>A (p.Asn105Lys)
NM_000214.3(JAG1):c.318C>A (p.Thr106=)
NM_000214.3(JAG1):c.31G>C (p.Gly11Arg)
NM_000214.3(JAG1):c.321C>A (p.Phe107Leu)
NM_000214.3(JAG1):c.32G>C (p.Gly11Ala)
NM_000214.3(JAG1):c.333C>G (p.Ala111=)
NM_000214.3(JAG1):c.336C>A (p.Ser112Arg)
NM_000214.3(JAG1):c.337C>A (p.Arg113Ser)
NM_000214.3(JAG1):c.33G>C (p.Gly11=)
NM_000214.3(JAG1):c.344A>G (p.Asn115Ser)
NM_000214.3(JAG1):c.351C>A (p.Arg117=)
NM_000214.3(JAG1):c.359T>A (p.Ile120Asn)
NM_000214.3(JAG1):c.359T>C (p.Ile120Thr)
NM_000214.3(JAG1):c.359T>G (p.Ile120Ser)
NM_000214.3(JAG1):c.360C>A (p.Ile120=)
NM_000214.3(JAG1):c.362T>A (p.Val121Glu)
NM_000214.3(JAG1):c.365T>A (p.Leu122Gln)
NM_000214.3(JAG1):c.367C>A (p.Pro123Thr)
NM_000214.3(JAG1):c.36C>G (p.Arg12=)
NM_000214.3(JAG1):c.371T>A (p.Phe124Tyr)
NM_000214.3(JAG1):c.371T>C (p.Phe124Ser)
NM_000214.3(JAG1):c.371T>G (p.Phe124Cys)
NM_000214.3(JAG1):c.372C>A (p.Phe124Leu)
NM_000214.3(JAG1):c.372C>G (p.Phe124Leu)
NM_000214.3(JAG1):c.374G>A (p.Ser125Asn)
NM_000214.3(JAG1):c.377T>A (p.Phe126Tyr)
NM_000214.3(JAG1):c.378C>G (p.Phe126Leu)
NM_000214.3(JAG1):c.37C>G (p.Pro13Ala)
NM_000214.3(JAG1):c.380C>A (p.Ala127Asp)
NM_000214.3(JAG1):c.386C>A (p.Pro129Gln)
NM_000214.3(JAG1):c.38C>G (p.Pro13Arg)
NM_000214.3(JAG1):c.391T>A (p.Ser131Thr)
NM_000214.3(JAG1):c.391T>G (p.Ser131Ala)
NM_000214.3(JAG1):c.392C>A (p.Ser131Tyr)
NM_000214.3(JAG1):c.392C>G (p.Ser131Cys)
NM_000214.3(JAG1):c.392C>T (p.Ser131Phe)
NM_000214.3(JAG1):c.393C>G (p.Ser131=)
NM_000214.3(JAG1):c.393C>T (p.Ser131=)
NM_000214.3(JAG1):c.394T>A (p.Tyr132Asn)
NM_000214.3(JAG1):c.397A>G (p.Thr133Ala)
NM_000214.3(JAG1):c.397A>T (p.Thr133Ser)
NM_000214.3(JAG1):c.398C>A (p.Thr133Lys)
NM_000214.3(JAG1):c.39C>G (p.Pro13=)
NM_000214.3(JAG1):c.400T>A (p.Leu134Met)
NM_000214.3(JAG1):c.401T>C (p.Leu134Ser)
NM_000214.3(JAG1):c.401T>G (p.Leu134Trp)
NM_000214.3(JAG1):c.402G>C (p.Leu134Phe)
NM_000214.3(JAG1):c.402G>T (p.Leu134Phe)
NM_000214.3(JAG1):c.403C>A (p.Leu135Ile)
NM_000214.3(JAG1):c.403C>G (p.Leu135Val)
NM_000214.3(JAG1):c.404T>A (p.Leu135His)
NM_000214.3(JAG1):c.404T>C (p.Leu135Pro)
NM_000214.3(JAG1):c.405T>A (p.Leu135=)
NM_000214.3(JAG1):c.405T>G (p.Leu135=)
NM_000214.3(JAG1):c.406G>A (p.Val136Met)
NM_000214.3(JAG1):c.407T>A (p.Val136Glu)
NM_000214.3(JAG1):c.407T>C (p.Val136Ala)
NM_000214.3(JAG1):c.407T>G (p.Val136Gly)
NM_000214.3(JAG1):c.409G>A (p.Glu137Lys)
NM_000214.3(JAG1):c.411G>A (p.Glu137=)
NM_000214.3(JAG1):c.412G>A (p.Ala138Thr)
NM_000214.3(JAG1):c.412G>C (p.Ala138Pro)
NM_000214.3(JAG1):c.412G>T (p.Ala138Ser)
NM_000214.3(JAG1):c.413C>A (p.Ala138Glu)
NM_000214.3(JAG1):c.415T>G (p.Trp139Gly)
NM_000214.3(JAG1):c.416G>C (p.Trp139Ser)
NM_000214.3(JAG1):c.420T>A (p.Asp140Glu)
NM_000214.3(JAG1):c.426T>A (p.Ser142Arg)
NM_000214.3(JAG1):c.432C>A (p.Asp144Glu)
NM_000214.3(JAG1):c.43A>C (p.Ser15Arg)
NM_000214.3(JAG1):c.442C>A (p.Pro148Thr)
NM_000214.3(JAG1):c.446A>T (p.Asp149Val)
NM_000214.3(JAG1):c.455T>A (p.Ile152Asn)
NM_000214.3(JAG1):c.455T>C (p.Ile152Thr)
NM_000214.3(JAG1):c.462G>A (p.Lys154=)
NM_000214.3(JAG1):c.463G>C (p.Ala155Pro)
NM_000214.3(JAG1):c.468T>A (p.Ser156=)
NM_000214.3(JAG1):c.470A>C (p.His157Pro) rs2122623835
NM_000214.3(JAG1):c.475G>A (p.Gly159Ser)
NM_000214.3(JAG1):c.475G>C (p.Gly159Arg)
NM_000214.3(JAG1):c.477C>A (p.Gly159=)
NM_000214.3(JAG1):c.47T>G (p.Leu16Arg)
NM_000214.3(JAG1):c.482T>A (p.Ile161Asn)
NM_000214.3(JAG1):c.488C>A (p.Pro163His)
NM_000214.3(JAG1):c.492C>A (p.Ser164Arg)
NM_000214.3(JAG1):c.493C>A (p.Arg165=)
NM_000214.3(JAG1):c.499T>A (p.Trp167Arg)
NM_000214.3(JAG1):c.499T>C (p.Trp167Arg) rs2067394353
NM_000214.3(JAG1):c.499T>G (p.Trp167Gly)
NM_000214.3(JAG1):c.500G>C (p.Trp167Ser)
NM_000214.3(JAG1):c.500G>T (p.Trp167Leu)
NM_000214.3(JAG1):c.501G>C (p.Trp167Cys)
NM_000214.3(JAG1):c.501G>T (p.Trp167Cys)
NM_000214.3(JAG1):c.503A>C (p.Gln168Pro)
NM_000214.3(JAG1):c.506C>A (p.Thr169Lys)
NM_000214.3(JAG1):c.508C>A (p.Leu170Met)
NM_000214.3(JAG1):c.50T>C (p.Leu17Pro)
NM_000214.3(JAG1):c.50T>G (p.Leu17Arg)
NM_000214.3(JAG1):c.516G>T (p.Gln172His)
NM_000214.3(JAG1):c.523G>C (p.Gly175Arg)
NM_000214.3(JAG1):c.524G>A (p.Gly175Asp)
NM_000214.3(JAG1):c.528T>C (p.Val176=)
NM_000214.3(JAG1):c.52C>G (p.Leu18Val)
NM_000214.3(JAG1):c.530C>A (p.Ala177Asp)
NM_000214.3(JAG1):c.534C>A (p.His178Gln)
NM_000214.3(JAG1):c.536T>C (p.Phe179Ser)
NM_000214.3(JAG1):c.53T>A (p.Leu18His)
NM_000214.3(JAG1):c.53T>C (p.Leu18Pro)
NM_000214.3(JAG1):c.53T>G (p.Leu18Arg)
NM_000214.3(JAG1):c.541T>A (p.Tyr181Asn)
NM_000214.3(JAG1):c.541T>C (p.Tyr181His)
NM_000214.3(JAG1):c.541T>G (p.Tyr181Asp)
NM_000214.3(JAG1):c.542A>C (p.Tyr181Ser)
NM_000214.3(JAG1):c.545A>C (p.Gln182Pro)
NM_000214.3(JAG1):c.548T>A (p.Ile183Asn)
NM_000214.3(JAG1):c.548T>C (p.Ile183Thr)
NM_000214.3(JAG1):c.548T>G (p.Ile183Ser)
NM_000214.3(JAG1):c.54C>G (p.Leu18=)
NM_000214.3(JAG1):c.550C>A (p.Arg184Ser)
NM_000214.3(JAG1):c.550C>G (p.Arg184Gly)
NM_000214.3(JAG1):c.551G>A (p.Arg184His) rs121918351
NM_000214.3(JAG1):c.551G>C (p.Arg184Pro)
NM_000214.3(JAG1):c.551G>T (p.Arg184Leu)
NM_000214.3(JAG1):c.554T>A (p.Val185Glu) rs2067393827
NM_000214.3(JAG1):c.554T>C (p.Val185Ala)
NM_000214.3(JAG1):c.554T>G (p.Val185Gly)
NM_000214.3(JAG1):c.556A>C (p.Thr186Pro)
NM_000214.3(JAG1):c.559T>A (p.Cys187Ser)
NM_000214.3(JAG1):c.560G>A (p.Cys187Tyr)
NM_000214.3(JAG1):c.560G>C (p.Cys187Ser)
NM_000214.3(JAG1):c.560G>T (p.Cys187Phe)
NM_000214.3(JAG1):c.561T>G (p.Cys187Trp)
NM_000214.3(JAG1):c.562G>T (p.Asp188Tyr)
NM_000214.3(JAG1):c.564T>A (p.Asp188Glu)
NM_000214.3(JAG1):c.56C>A (p.Ala19Asp)
NM_000214.3(JAG1):c.571T>A (p.Tyr191Asn)
NM_000214.3(JAG1):c.571T>G (p.Tyr191Asp)
NM_000214.3(JAG1):c.572A>G (p.Tyr191Cys)
NM_000214.3(JAG1):c.577G>A (p.Gly193Ser)
NM_000214.3(JAG1):c.578G>T (p.Gly193Val)
NM_000214.3(JAG1):c.57C>G (p.Ala19=)
NM_000214.3(JAG1):c.586T>A (p.Cys196Ser)
NM_000214.3(JAG1):c.586T>C (p.Cys196Arg)
NM_000214.3(JAG1):c.586T>G (p.Cys196Gly)
NM_000214.3(JAG1):c.587G>C (p.Cys196Ser)
NM_000214.3(JAG1):c.587G>T (p.Cys196Phe)
NM_000214.3(JAG1):c.588C>G (p.Cys196Trp)
NM_000214.3(JAG1):c.58C>G (p.Leu20Val)
NM_000214.3(JAG1):c.590A>G (p.Asn197Ser) rs2122623617
NM_000214.3(JAG1):c.591T>A (p.Asn197Lys)
NM_000214.3(JAG1):c.595T>A (p.Phe199Ile)
NM_000214.3(JAG1):c.59T>A (p.Leu20Gln)
NM_000214.3(JAG1):c.59T>C (p.Leu20Pro) rs1568807442
NM_000214.3(JAG1):c.59T>G (p.Leu20Arg)
NM_000214.3(JAG1):c.618C>A (p.Phe206Leu)
NM_000214.3(JAG1):c.61C>G (p.Leu21Val)
NM_000214.3(JAG1):c.624A>T (p.Gly208=)
NM_000214.3(JAG1):c.625C>G (p.His209Asp)
NM_000214.3(JAG1):c.62T>C (p.Leu21Pro) rs876660977
NM_000214.3(JAG1):c.62T>G (p.Leu21Arg)
NM_000214.3(JAG1):c.632C>A (p.Ala211Asp)
NM_000214.3(JAG1):c.635G>T (p.Cys212Phe)
NM_000214.3(JAG1):c.637G>T (p.Asp213Tyr)
NM_000214.3(JAG1):c.638A>T (p.Asp213Val)
NM_000214.3(JAG1):c.639C>A (p.Asp213Glu)
NM_000214.3(JAG1):c.639C>G (p.Asp213Glu)
NM_000214.3(JAG1):c.63C>G (p.Leu21=)
NM_000214.3(JAG1):c.646G>A (p.Gly216Ser)
NM_000214.3(JAG1):c.64T>C (p.Cys22Arg) rs1555831004
NM_000214.3(JAG1):c.64T>G (p.Cys22Gly)
NM_000214.3(JAG1):c.658T>A (p.Cys220Ser)
NM_000214.3(JAG1):c.658T>C (p.Cys220Arg)
NM_000214.3(JAG1):c.659G>A (p.Cys220Tyr)
NM_000214.3(JAG1):c.659G>C (p.Cys220Ser)
NM_000214.3(JAG1):c.659G>T (p.Cys220Phe)
NM_000214.3(JAG1):c.65G>C (p.Cys22Ser)
NM_000214.3(JAG1):c.660C>G (p.Cys220Trp)
NM_000214.3(JAG1):c.667G>A (p.Gly223Ser)
NM_000214.3(JAG1):c.672G>C (p.Trp224Cys)
NM_000214.3(JAG1):c.672G>T (p.Trp224Cys)
NM_000214.3(JAG1):c.67G>C (p.Ala23Pro)
NM_000214.3(JAG1):c.685T>A (p.Cys229Ser)
NM_000214.3(JAG1):c.685T>C (p.Cys229Arg)
NM_000214.3(JAG1):c.686G>A (p.Cys229Tyr)
NM_000214.3(JAG1):c.686G>T (p.Cys229Phe)
NM_000214.3(JAG1):c.687T>G (p.Cys229Trp)
NM_000214.3(JAG1):c.68C>A (p.Ala23Asp)
NM_000214.3(JAG1):c.695C>A (p.Ala232Asp)
NM_000214.3(JAG1):c.697A>T (p.Ile233Phe)
NM_000214.3(JAG1):c.69C>G (p.Ala23=)
NM_000214.3(JAG1):c.710G>T (p.Gly237Val)
NM_000214.3(JAG1):c.711C>T (p.Gly237=) rs1555829409
NM_000214.3(JAG1):c.716G>A (p.Ser239Asn) rs2067379682
NM_000214.3(JAG1):c.718C>A (p.Pro240Thr)
NM_000214.3(JAG1):c.718C>T (p.Pro240Ser)
NM_000214.3(JAG1):c.719C>T (p.Pro240Leu)
NM_000214.3(JAG1):c.71T>G (p.Leu24Arg)
NM_000214.3(JAG1):c.729G>A (p.Gly243=)
NM_000214.3(JAG1):c.730T>A (p.Ser244Thr)
NM_000214.3(JAG1):c.731C>A (p.Ser244Tyr)
NM_000214.3(JAG1):c.734G>T (p.Cys245Phe)
NM_000214.3(JAG1):c.748G>C (p.Asp250His)
NM_000214.3(JAG1):c.757T>A (p.Cys253Ser)
NM_000214.3(JAG1):c.757T>C (p.Cys253Arg) rs2122615195
NM_000214.3(JAG1):c.758G>A (p.Cys253Tyr)
NM_000214.3(JAG1):c.758G>C (p.Cys253Ser)
NM_000214.3(JAG1):c.758G>T (p.Cys253Phe)
NM_000214.3(JAG1):c.759C>G (p.Cys253Trp)
NM_000214.3(JAG1):c.75A>C (p.Arg25=)
NM_000214.3(JAG1):c.75A>G (p.Arg25=)
NM_000214.3(JAG1):c.760C>A (p.Gln254Lys)
NM_000214.3(JAG1):c.766G>A (p.Gly256Ser)
NM_000214.3(JAG1):c.766G>C (p.Gly256Arg)
NM_000214.3(JAG1):c.766G>T (p.Gly256Cys)
NM_000214.3(JAG1):c.767G>T (p.Gly256Val)
NM_000214.3(JAG1):c.771G>C (p.Trp257Cys)
NM_000214.3(JAG1):c.771G>T (p.Trp257Cys)
NM_000214.3(JAG1):c.773A>C (p.Gln258Pro)
NM_000214.3(JAG1):c.775G>T (p.Gly259Cys)
NM_000214.3(JAG1):c.776G>T (p.Gly259Val) rs1568798363
NM_000214.3(JAG1):c.77C>G (p.Ala26Gly)
NM_000214.3(JAG1):c.782A>T (p.Tyr261Phe)
NM_000214.3(JAG1):c.784T>A (p.Cys262Ser)
NM_000214.3(JAG1):c.784T>C (p.Cys262Arg)
NM_000214.3(JAG1):c.784T>G (p.Cys262Gly)
NM_000214.3(JAG1):c.785G>A (p.Cys262Tyr)
NM_000214.3(JAG1):c.785G>C (p.Cys262Ser)
NM_000214.3(JAG1):c.785G>T (p.Cys262Phe)
NM_000214.3(JAG1):c.786T>G (p.Cys262Trp)
NM_000214.3(JAG1):c.78C>G (p.Ala26=)
NM_000214.3(JAG1):c.793T>A (p.Cys265Ser)
NM_000214.3(JAG1):c.793T>C (p.Cys265Arg)
NM_000214.3(JAG1):c.793T>G (p.Cys265Gly)
NM_000214.3(JAG1):c.794G>C (p.Cys265Ser)
NM_000214.3(JAG1):c.794G>T (p.Cys265Phe)
NM_000214.3(JAG1):c.795C>G (p.Cys265Trp)
NM_000214.3(JAG1):c.798C>A (p.Ile266=)
NM_000214.3(JAG1):c.79A>G (p.Lys27Glu)
NM_000214.3(JAG1):c.801A>T (p.Pro267=)
NM_000214.3(JAG1):c.811T>A (p.Cys271Ser)
NM_000214.3(JAG1):c.811T>C (p.Cys271Arg)
NM_000214.3(JAG1):c.811T>G (p.Cys271Gly)
NM_000214.3(JAG1):c.812G>A (p.Cys271Tyr)
NM_000214.3(JAG1):c.812G>C (p.Cys271Ser)
NM_000214.3(JAG1):c.812G>T (p.Cys271Phe)
NM_000214.3(JAG1):c.813C>G (p.Cys271Trp) rs766245856
NM_000214.3(JAG1):c.817C>G (p.His273Asp)
NM_000214.3(JAG1):c.818A>C (p.His273Pro)
NM_000214.3(JAG1):c.818A>T (p.His273Leu)
NM_000214.3(JAG1):c.820G>A (p.Gly274Ser) rs2122615095
NM_000214.3(JAG1):c.820G>C (p.Gly274Arg)
NM_000214.3(JAG1):c.820G>T (p.Gly274Cys) rs2122615095
NM_000214.3(JAG1):c.821G>C (p.Gly274Ala)
NM_000214.3(JAG1):c.821G>T (p.Gly274Val)
NM_000214.3(JAG1):c.822C>A (p.Gly274=)
NM_000214.3(JAG1):c.823A>G (p.Ile275Val)
NM_000214.3(JAG1):c.823A>T (p.Ile275Phe)
NM_000214.3(JAG1):c.824T>A (p.Ile275Asn)
NM_000214.3(JAG1):c.824T>C (p.Ile275Thr)
NM_000214.3(JAG1):c.824T>G (p.Ile275Ser)
NM_000214.3(JAG1):c.825C>G (p.Ile275Met)
NM_000214.3(JAG1):c.826T>A (p.Cys276Ser)
NM_000214.3(JAG1):c.826T>G (p.Cys276Gly)
NM_000214.3(JAG1):c.827G>C (p.Cys276Ser)
NM_000214.3(JAG1):c.827G>T (p.Cys276Phe)
NM_000214.3(JAG1):c.828T>G (p.Cys276Trp)
NM_000214.3(JAG1):c.829A>T (p.Asn277Tyr)
NM_000214.3(JAG1):c.82G>A (p.Val28Met)
NM_000214.3(JAG1):c.830A>T (p.Asn277Ile)
NM_000214.3(JAG1):c.831T>A (p.Asn277Lys)
NM_000214.3(JAG1):c.831T>G (p.Asn277Lys)
NM_000214.3(JAG1):c.836C>T (p.Pro279Leu)
NM_000214.3(JAG1):c.837C>T (p.Pro279=)
NM_000214.3(JAG1):c.83T>C (p.Val28Ala)
NM_000214.3(JAG1):c.842A>C (p.Gln281Pro)
NM_000214.3(JAG1):c.844T>A (p.Cys282Ser)
NM_000214.3(JAG1):c.844T>C (p.Cys282Arg)
NM_000214.3(JAG1):c.844T>G (p.Cys282Gly)
NM_000214.3(JAG1):c.845G>A (p.Cys282Tyr)
NM_000214.3(JAG1):c.845G>C (p.Cys282Ser)
NM_000214.3(JAG1):c.845G>T (p.Cys282Phe)
NM_000214.3(JAG1):c.846C>G (p.Cys282Trp)
NM_000214.3(JAG1):c.848T>C (p.Leu283Pro)
NM_000214.3(JAG1):c.84G>C (p.Val28=)
NM_000214.3(JAG1):c.850T>A (p.Cys284Ser)
NM_000214.3(JAG1):c.850T>G (p.Cys284Gly)
NM_000214.3(JAG1):c.851G>A (p.Cys284Tyr)
NM_000214.3(JAG1):c.851G>C (p.Cys284Ser) rs1555829067
NM_000214.3(JAG1):c.851G>T (p.Cys284Phe) rs1555829067
NM_000214.3(JAG1):c.852T>G (p.Cys284Trp)
NM_000214.3(JAG1):c.853G>A (p.Glu285Lys)
NM_000214.3(JAG1):c.853G>C (p.Glu285Gln)
NM_000214.3(JAG1):c.854A>C (p.Glu285Ala)
NM_000214.3(JAG1):c.854A>T (p.Glu285Val)
NM_000214.3(JAG1):c.855G>C (p.Glu285Asp)
NM_000214.3(JAG1):c.855G>T (p.Glu285Asp)
NM_000214.3(JAG1):c.856A>C (p.Thr286Pro)
NM_000214.3(JAG1):c.856A>G (p.Thr286Ala)
NM_000214.3(JAG1):c.857C>A (p.Thr286Asn)
NM_000214.3(JAG1):c.857C>T (p.Thr286Ile)
NM_000214.3(JAG1):c.859A>T (p.Asn287Tyr)
NM_000214.3(JAG1):c.85T>C (p.Cys29Arg)
NM_000214.3(JAG1):c.860A>T (p.Asn287Ile)
NM_000214.3(JAG1):c.861C>A (p.Asn287Lys)
NM_000214.3(JAG1):c.861C>G (p.Asn287Lys)
NM_000214.3(JAG1):c.862T>G (p.Trp288Gly)
NM_000214.3(JAG1):c.863G>C (p.Trp288Ser)
NM_000214.3(JAG1):c.864G>C (p.Trp288Cys)
NM_000214.3(JAG1):c.864G>T (p.Trp288Cys)
NM_000214.3(JAG1):c.868G>C (p.Gly290Arg)
NM_000214.3(JAG1):c.868G>T (p.Gly290Cys)
NM_000214.3(JAG1):c.869G>T (p.Gly290Val)
NM_000214.3(JAG1):c.875T>A (p.Leu292His)
NM_000214.3(JAG1):c.876C>T (p.Leu292=)
NM_000214.3(JAG1):c.877T>A (p.Cys293Ser)
NM_000214.3(JAG1):c.877T>C (p.Cys293Arg)
NM_000214.3(JAG1):c.877T>G (p.Cys293Gly)
NM_000214.3(JAG1):c.878G>A (p.Cys293Tyr) rs1568798248
NM_000214.3(JAG1):c.878G>C (p.Cys293Ser)
NM_000214.3(JAG1):c.878G>T (p.Cys293Phe)
NM_000214.3(JAG1):c.879T>G (p.Cys293Trp)
NM_000214.3(JAG1):c.881A>G (p.Asp294Gly)
NM_000214.3(JAG1):c.882C>A (p.Asp294Glu) rs2122614970
NM_000214.3(JAG1):c.886G>T (p.Asp296Tyr)
NM_000214.3(JAG1):c.887A>G (p.Asp296Gly)
NM_000214.3(JAG1):c.887A>T (p.Asp296Val)
NM_000214.3(JAG1):c.888T>A (p.Asp296Glu)
NM_000214.3(JAG1):c.888T>G (p.Asp296Glu)
NM_000214.3(JAG1):c.88G>C (p.Gly30Arg)
NM_000214.3(JAG1):c.890T>C (p.Leu297Pro)
NM_000214.3(JAG1):c.892A>C (p.Asn298His)
NM_000214.3(JAG1):c.892A>T (p.Asn298Tyr)
NM_000214.3(JAG1):c.893A>C (p.Asn298Thr)
NM_000214.3(JAG1):c.893A>G (p.Asn298Ser)
NM_000214.3(JAG1):c.893A>T (p.Asn298Ile)
NM_000214.3(JAG1):c.894T>A (p.Asn298Lys)
NM_000214.3(JAG1):c.895T>G (p.Tyr299Asp)
NM_000214.3(JAG1):c.896A>T (p.Tyr299Phe)
NM_000214.3(JAG1):c.898T>A (p.Cys300Ser)
NM_000214.3(JAG1):c.898T>C (p.Cys300Arg)
NM_000214.3(JAG1):c.898T>G (p.Cys300Gly)
NM_000214.3(JAG1):c.899G>A (p.Cys300Tyr)
NM_000214.3(JAG1):c.899G>C (p.Cys300Ser)
NM_000214.3(JAG1):c.899G>T (p.Cys300Phe)
NM_000214.3(JAG1):c.89G>C (p.Gly30Ala)
NM_000214.3(JAG1):c.900T>G (p.Cys300Trp)
NM_000214.3(JAG1):c.901G>C (p.Gly301Arg)
NM_000214.3(JAG1):c.901G>T (p.Gly301Trp)
NM_000214.3(JAG1):c.902G>C (p.Gly301Ala)
NM_000214.3(JAG1):c.902G>T (p.Gly301Val)
NM_000214.3(JAG1):c.904A>C (p.Thr302Pro)
NM_000214.3(JAG1):c.905C>A (p.Thr302Asn)
NM_000214.3(JAG1):c.905C>T (p.Thr302Ile)
NM_000214.3(JAG1):c.90G>C (p.Gly30=)
NM_000214.3(JAG1):c.916T>A (p.Cys306Ser)
NM_000214.3(JAG1):c.916T>C (p.Cys306Arg)
NM_000214.3(JAG1):c.916T>G (p.Cys306Gly)
NM_000214.3(JAG1):c.917G>A (p.Cys306Tyr)
NM_000214.3(JAG1):c.917G>C (p.Cys306Ser)
NM_000214.3(JAG1):c.917G>T (p.Cys306Phe)
NM_000214.3(JAG1):c.918T>G (p.Cys306Trp)
NM_000214.3(JAG1):c.91G>C (p.Ala31Pro)
NM_000214.3(JAG1):c.92C>A (p.Ala31Asp)
NM_000214.3(JAG1):c.92C>G (p.Ala31Gly)
NM_000214.3(JAG1):c.932C>A (p.Thr311Asn)
NM_000214.3(JAG1):c.934T>A (p.Cys312Ser)
NM_000214.3(JAG1):c.934T>C (p.Cys312Arg)
NM_000214.3(JAG1):c.934T>G (p.Cys312Gly)
NM_000214.3(JAG1):c.935G>A (p.Cys312Tyr)
NM_000214.3(JAG1):c.935G>C (p.Cys312Ser)
NM_000214.3(JAG1):c.935G>T (p.Cys312Phe)
NM_000214.3(JAG1):c.936T>G (p.Cys312Trp)
NM_000214.3(JAG1):c.942C>A (p.Asn314Lys)
NM_000214.3(JAG1):c.942C>G (p.Asn314Lys)
NM_000214.3(JAG1):c.94T>C (p.Ser32Pro)
NM_000214.3(JAG1):c.94T>G (p.Ser32Ala)
NM_000214.3(JAG1):c.964T>C (p.Cys322Arg)
NM_000214.3(JAG1):c.964T>G (p.Cys322Gly)
NM_000214.3(JAG1):c.965G>A (p.Cys322Tyr)
NM_000214.3(JAG1):c.965G>C (p.Cys322Ser)
NM_000214.3(JAG1):c.966T>G (p.Cys322Trp)
NM_000214.3(JAG1):c.967T>C (p.Ser323Pro)
NM_000214.3(JAG1):c.968C>G (p.Ser323Cys)
NM_000214.3(JAG1):c.96G>C (p.Ser32=)
NM_000214.3(JAG1):c.970T>C (p.Cys324Arg)
NM_000214.3(JAG1):c.971G>T (p.Cys324Phe)
NM_000214.3(JAG1):c.97G>C (p.Gly33Arg)
NM_000214.3(JAG1):c.981G>C (p.Gly327=)
NM_000214.3(JAG1):c.98G>C (p.Gly33Ala)
NM_000214.3(JAG1):c.98G>T (p.Gly33Val) rs2122644925
NM_000214.3(JAG1):c.997T>A (p.Cys333Ser)
NM_000214.3(JAG1):c.998G>C (p.Cys333Ser)
NM_000214.3(JAG1):c.999T>G (p.Cys333Trp)
NM_000214.3(JAG1):c.99T>A (p.Gly33=)
NM_000214.3(JAG1):c.99T>G (p.Gly33=)

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