Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.74919632C>ACA400961459USH1Gc.1204G>T (p.Glu402Ter)
c.*803G>T (n.*803G>T)
c.895G>T (p.Glu299Ter)
 dbSNP gnomAD v3 gnomAD v4
17g.74919632C=CA2275255184USH1Gc.1204G= (p.Glu402=)
c.*803G= (n.*803G=)
c.895G= (p.Glu299=)
17g.74919632C>GCA400961460USH1Gc.1204G>C (p.Glu402Gln)
c.*803G>C (n.*803G>C)
c.895G>C (p.Glu299Gln)
17g.74919632C>TCA400961461USH1Gc.1204G>A (p.Glu402Lys)
c.*803G>A (n.*803G>A)
c.895G>A (p.Glu299Lys)
 COSMIC
17g.74919633C>ACA400961462USH1Gc.1203G>T (p.Met401Ile)
c.*802G>T (n.*802G>T)
c.894G>T (p.Met298Ile)
17g.74919633C=CA2275255185USH1Gc.1203G= (p.Met401=)
c.*802G= (n.*802G=)
c.894G= (p.Met298=)
17g.74919633C>GCA400961463USH1Gc.1203G>C (p.Met401Ile)
c.*802G>C (n.*802G>C)
c.894G>C (p.Met298Ile)
17g.74919633C>TCA8753915USH1Gc.1203G>A (p.Met401Ile)
c.*802G>A (n.*802G>A)
c.894G>A (p.Met298Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919634A=CA2275255186USH1Gc.1202T= (p.Met401=)
c.*801T= (n.*801T=)
c.893T= (p.Met298=)
17g.74919634A>CCA400961464USH1Gc.1202T>G (p.Met401Arg)
c.*801T>G (n.*801T>G)
c.893T>G (p.Met298Arg)
17g.74919634A>GCA8753916USH1Gc.1202T>C (p.Met401Thr)
c.*801T>C (n.*801T>C)
c.893T>C (p.Met298Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919634A>TCA400961465USH1Gc.1202T>A (p.Met401Lys)
c.*801T>A (n.*801T>A)
c.893T>A (p.Met298Lys)
17g.74919635T>ACA400961466USH1Gc.1201A>T (p.Met401Leu)
c.*800A>T (n.*800A>T)
c.892A>T (p.Met298Leu)
 gnomAD v4
17g.74919635T>CCA293983547USH1Gc.1201A>G (p.Met401Val)
c.*800A>G (n.*800A>G)
c.892A>G (p.Met298Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.74919635T>GCA400961467USH1Gc.1201A>C (p.Met401Leu)
c.*800A>C (n.*800A>C)
c.892A>C (p.Met298Leu)
 gnomAD v4
17g.74919635T=CA2275255187USH1Gc.1201A= (p.Met401=)
c.*800A= (n.*800A=)
c.892A= (p.Met298=)
17g.74919636G>ACA502036593USH1Gc.1200C>T (p.His400=)
c.*799C>T (n.*799C>T)
c.891C>T (p.His297=)
 ClinVar dbSNP
17g.74919636G>CCA400961468USH1Gc.1200C>G (p.His400Gln)
c.*799C>G (n.*799C>G)
c.891C>G (p.His297Gln)
17g.74919636G>TCA400961469USH1Gc.1200C>A (p.His400Gln)
c.*799C>A (n.*799C>A)
c.891C>A (p.His297Gln)
17g.74919637T>ACA400961470USH1Gc.1199A>T (p.His400Leu)
c.*798A>T (n.*798A>T)
c.890A>T (p.His297Leu)
17g.74919637T>CCA8753917USH1Gc.1199A>G (p.His400Arg)
c.*798A>G (n.*798A>G)
c.890A>G (p.His297Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919637T>GCA400961471USH1Gc.1199A>C (p.His400Pro)
c.*798A>C (n.*798A>C)
c.890A>C (p.His297Pro)
17g.74919637T=CA2275255188USH1Gc.1199A= (p.His400=)
c.*798A= (n.*798A=)
c.890A= (p.His297=)
17g.74919638G>ACA400961472USH1Gc.1198C>T (p.His400Tyr)
c.*797C>T (n.*797C>T)
c.889C>T (p.His297Tyr)
 gnomAD v4
17g.74919638G>CCA400961473USH1Gc.1198C>G (p.His400Asp)
c.*797C>G (n.*797C>G)
c.889C>G (p.His297Asp)
17g.74919638G>TCA400961474USH1Gc.1198C>A (p.His400Asn)
c.*797C>A (n.*797C>A)
c.889C>A (p.His297Asn)
17g.74919639C>ACA502036596USH1Gc.1197G>T (p.Leu399=)
c.*796G>T (n.*796G>T)
c.888G>T (p.Leu296=)
17g.74919639C>GCA502036597USH1Gc.1197G>C (p.Leu399=)
c.*796G>C (n.*796G>C)
c.888G>C (p.Leu296=)
17g.74919639C>TCA502036598USH1Gc.1197G>A (p.Leu399=)
c.*796G>A (n.*796G>A)
c.888G>A (p.Leu296=)
17g.74919639_74919641delinsCAGCA2275255189USH1Gc.1195_1197delinsCTG (p.Leu399=)
c.*794_*796delinsCTG (n.*794_*796delinsCTG)
c.886_888delinsCTG (p.Leu296=)
17g.74919640A>CCA400961477USH1Gc.1196T>G (p.Leu399Arg)
c.*795T>G (n.*795T>G)
c.887T>G (p.Leu296Arg)
17g.74919640A>GCA400961475USH1Gc.1196T>C (p.Leu399Pro)
c.*795T>C (n.*795T>C)
c.887T>C (p.Leu296Pro)
 dbSNP
17g.74919640A>TCA400961476USH1Gc.1196T>A (p.Leu399Gln)
c.*795T>A (n.*795T>A)
c.887T>A (p.Leu296Gln)
17g.74919644_74919645delCA986277536USH1Gc.1195_1196del (p.Leu399AlafsTer24)
c.*794_*795del (n.*794_*795del)
c.886_887del (p.Leu296AlafsTer24)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.74919641G>ACA502036600USH1Gc.1195C>T (p.Leu399=)
c.*794C>T (n.*794C>T)
c.886C>T (p.Leu296=)
 gnomAD v4
17g.74919641G>CCA400961478USH1Gc.1195C>G (p.Leu399Val)
c.*794C>G (n.*794C>G)
c.886C>G (p.Leu296Val)
17g.74919641G>TCA400961479USH1Gc.1195C>A (p.Leu399Met)
c.*794C>A (n.*794C>A)
c.886C>A (p.Leu296Met)
17g.74919642A>CCA502036601USH1Gc.1194T>G (p.Ser398=)
c.*793T>G (n.*793T>G)
c.885T>G (p.Ser295=)
17g.74919642A>GCA502036602USH1Gc.1194T>C (p.Ser398=)
c.*793T>C (n.*793T>C)
c.885T>C (p.Ser295=)
17g.74919642A>TCA502036604USH1Gc.1194T>A (p.Ser398=)
c.*793T>A (n.*793T>A)
c.885T>A (p.Ser295=)
17g.74919643G>ACA400961480USH1Gc.1193C>T (p.Ser398Phe)
c.*792C>T (n.*792C>T)
c.884C>T (p.Ser295Phe)
 gnomAD v4
17g.74919643G>CCA400961481USH1Gc.1193C>G (p.Ser398Cys)
c.*792C>G (n.*792C>G)
c.884C>G (p.Ser295Cys)
 gnomAD v4
17g.74919643G>TCA400961482USH1Gc.1193C>A (p.Ser398Tyr)
c.*792C>A (n.*792C>A)
c.884C>A (p.Ser295Tyr)
17g.74919644A>CCA400961483USH1Gc.1192T>G (p.Ser398Ala)
c.*791T>G (n.*791T>G)
c.883T>G (p.Ser295Ala)
17g.74919644A>GCA400961485USH1Gc.1192T>C (p.Ser398Pro)
c.*791T>C (n.*791T>C)
c.883T>C (p.Ser295Pro)
17g.74919644A>TCA400961484USH1Gc.1192T>A (p.Ser398Thr)
c.*791T>A (n.*791T>A)
c.883T>A (p.Ser295Thr)
17g.74919645G>ACA293983551USH1Gc.1191C>T (p.Ala397=)
c.*790C>T (n.*790C>T)
c.882C>T (p.Ala294=)
 dbSNP gnomAD v3 gnomAD v4
17g.74919645G>CCA502036609USH1Gc.1191C>G (p.Ala397=)
c.*790C>G (n.*790C>G)
c.882C>G (p.Ala294=)
17g.74919645G=CA2275255190USH1Gc.1191C= (p.Ala397=)
c.*790C= (n.*790C=)
c.882C= (p.Ala294=)
17g.74919645G>TCA502036608USH1Gc.1191C>A (p.Ala397=)
c.*790C>A (n.*790C>A)
c.882C>A (p.Ala294=)
17g.74919646G>ACA400961486USH1Gc.1190C>T (p.Ala397Val)
c.*789C>T (n.*789C>T)
c.881C>T (p.Ala294Val)
 dbSNP
17g.74919646G>CCA400961487USH1Gc.1190C>G (p.Ala397Gly)
c.*789C>G (n.*789C>G)
c.881C>G (p.Ala294Gly)
17g.74919646G=CA2275255191USH1Gc.1190C= (p.Ala397=)
c.*789C= (n.*789C=)
c.881C= (p.Ala294=)
17g.74919646G>TCA400961488USH1Gc.1190C>A (p.Ala397Asp)
c.*789C>A (n.*789C>A)
c.881C>A (p.Ala294Asp)
17g.74919646_74919648delCA1139655064USH1Gc.1188_1190del (p.Ala397del)
c.*787_*789del (n.*787_*789del)
c.879_881del (p.Ala294del)
17g.74919647C>ACA400961489USH1Gc.1189G>T (p.Ala397Ser)
c.*788G>T (n.*788G>T)
c.880G>T (p.Ala294Ser)
17g.74919647C>GCA400961490USH1Gc.1189G>C (p.Ala397Pro)
c.*788G>C (n.*788G>C)
c.880G>C (p.Ala294Pro)
17g.74919647C>TCA400961491USH1Gc.1189G>A (p.Ala397Thr)
c.*788G>A (n.*788G>A)
c.880G>A (p.Ala294Thr)
17g.74919648C>ACA502036615USH1Gc.1188G>T (p.Leu396=)
c.*787G>T (n.*787G>T)
c.879G>T (p.Leu293=)
17g.74919648C>GCA502036616USH1Gc.1188G>C (p.Leu396=)
c.*787G>C (n.*787G>C)
c.879G>C (p.Leu293=)
17g.74919648C>TCA502036617USH1Gc.1188G>A (p.Leu396=)
c.*787G>A (n.*787G>A)
c.879G>A (p.Leu293=)
17g.74919649A=CA2275255192USH1Gc.1187T= (p.Leu396=)
c.*786T= (n.*786T=)
c.878T= (p.Leu293=)
17g.74919649A>CCA400961492USH1Gc.1187T>G (p.Leu396Arg)
c.*786T>G (n.*786T>G)
c.878T>G (p.Leu293Arg)
17g.74919649A>GCA400961493USH1Gc.1187T>C (p.Leu396Pro)
c.*786T>C (n.*786T>C)
c.878T>C (p.Leu293Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.74919649A>TCA400961494USH1Gc.1187T>A (p.Leu396Gln)
c.*786T>A (n.*786T>A)
c.878T>A (p.Leu293Gln)
 dbSNP
17g.74919650G>ACA502036620USH1Gc.1186C>T (p.Leu396=)
c.*785C>T (n.*785C>T)
c.877C>T (p.Leu293=)
17g.74919650G>CCA400961495USH1Gc.1186C>G (p.Leu396Val)
c.*785C>G (n.*785C>G)
c.877C>G (p.Leu293Val)
17g.74919650G>TCA400961496USH1Gc.1186C>A (p.Leu396Met)
c.*785C>A (n.*785C>A)
c.877C>A (p.Leu293Met)
17g.74919651delCA2639747140USH1Gc.1186del (p.Leu396TrpfsTer23)
c.*785del (n.*785del)
c.877del (p.Leu293TrpfsTer23)
 gnomAD v4
17g.74919651G>ACA502036621USH1Gc.1185C>T (p.Phe395=)
c.*784C>T (n.*784C>T)
c.876C>T (p.Phe292=)
17g.74919651G>CCA400961498USH1Gc.1185C>G (p.Phe395Leu)
c.*784C>G (n.*784C>G)
c.876C>G (p.Phe292Leu)
17g.74919651G>TCA400961497USH1Gc.1185C>A (p.Phe395Leu)
c.*784C>A (n.*784C>A)
c.876C>A (p.Phe292Leu)
17g.74919652A>CCA400961499USH1Gc.1184T>G (p.Phe395Cys)
c.*783T>G (n.*783T>G)
c.875T>G (p.Phe292Cys)
17g.74919652A>GCA400961501USH1Gc.1184T>C (p.Phe395Ser)
c.*783T>C (n.*783T>C)
c.875T>C (p.Phe292Ser)
17g.74919652A>TCA400961500USH1Gc.1184T>A (p.Phe395Tyr)
c.*783T>A (n.*783T>A)
c.875T>A (p.Phe292Tyr)
17g.74919653A>CCA400961502USH1Gc.1183T>G (p.Phe395Val)
c.*782T>G (n.*782T>G)
c.874T>G (p.Phe292Val)
17g.74919653A>GCA400961503USH1Gc.1183T>C (p.Phe395Leu)
c.*782T>C (n.*782T>C)
c.874T>C (p.Phe292Leu)
17g.74919653A>TCA400961504USH1Gc.1183T>A (p.Phe395Ile)
c.*782T>A (n.*782T>A)
c.874T>A (p.Phe292Ile)
17g.74919654G>ACA502036624USH1Gc.1182C>T (p.Thr394=)
c.*781C>T (n.*781C>T)
c.873C>T (p.Thr291=)
 dbSNP gnomAD v3 gnomAD v4
17g.74919654G>CCA502036625USH1Gc.1182C>G (p.Thr394=)
c.*781C>G (n.*781C>G)
c.873C>G (p.Thr291=)
17g.74919654G=CA2275255193USH1Gc.1182C= (p.Thr394=)
c.*781C= (n.*781C=)
c.873C= (p.Thr291=)
17g.74919654G>TCA502036626USH1Gc.1182C>A (p.Thr394=)
c.*781C>A (n.*781C>A)
c.873C>A (p.Thr291=)
17g.74919655G>ACA400961505USH1Gc.1181C>T (p.Thr394Ile)
c.*780C>T (n.*780C>T)
c.872C>T (p.Thr291Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919655G>CCA400961506USH1Gc.1181C>G (p.Thr394Ser)
c.*780C>G (n.*780C>G)
c.872C>G (p.Thr291Ser)
17g.74919655G=CA2275255194USH1Gc.1181C= (p.Thr394=)
c.*780C= (n.*780C=)
c.872C= (p.Thr291=)
17g.74919655G>TCA400961507USH1Gc.1181C>A (p.Thr394Asn)
c.*780C>A (n.*780C>A)
c.872C>A (p.Thr291Asn)
17g.74919656T>ACA400961510USH1Gc.1180A>T (p.Thr394Ser)
c.*779A>T (n.*779A>T)
c.871A>T (p.Thr291Ser)
17g.74919656T>CCA400961508USH1Gc.1180A>G (p.Thr394Ala)
c.*779A>G (n.*779A>G)
c.871A>G (p.Thr291Ala)
 gnomAD v4
17g.74919656T>GCA400961509USH1Gc.1180A>C (p.Thr394Pro)
c.*779A>C (n.*779A>C)
c.871A>C (p.Thr291Pro)
17g.74919657C>ACA8753918USH1Gc.1179G>T (p.Glu393Asp)
c.*778G>T (n.*778G>T)
c.870G>T (p.Glu290Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919657C=CA2275255195USH1Gc.1179G= (p.Glu393=)
c.*778G= (n.*778G=)
c.870G= (p.Glu290=)
17g.74919657C>GCA400961511USH1Gc.1179G>C (p.Glu393Asp)
c.*778G>C (n.*778G>C)
c.870G>C (p.Glu290Asp)
17g.74919657C>TCA502036637USH1Gc.1179G>A (p.Glu393=)
c.*778G>A (n.*778G>A)
c.870G>A (p.Glu290=)
 dbSNP gnomAD v2
17g.74919658T>ACA400961512USH1Gc.1178A>T (p.Glu393Val)
c.*777A>T (n.*777A>T)
c.869A>T (p.Glu290Val)
17g.74919658T>CCA400961513USH1Gc.1178A>G (p.Glu393Gly)
c.*777A>G (n.*777A>G)
c.869A>G (p.Glu290Gly)
 gnomAD v4
17g.74919658T>GCA400961514USH1Gc.1178A>C (p.Glu393Ala)
c.*777A>C (n.*777A>C)
c.869A>C (p.Glu290Ala)
17g.74919659C>ACA400961517USH1Gc.1177G>T (p.Glu393Ter)
c.*776G>T (n.*776G>T)
c.868G>T (p.Glu290Ter)
17g.74919659C>GCA400961515USH1Gc.1177G>C (p.Glu393Gln)
c.*776G>C (n.*776G>C)
c.868G>C (p.Glu290Gln)
17g.74919659C>TCA400961516USH1Gc.1177G>A (p.Glu393Lys)
c.*776G>A (n.*776G>A)
c.868G>A (p.Glu290Lys)
17g.74919660C>ACA502036640USH1Gc.1176G>T (p.Leu392=)
c.*775G>T (n.*775G>T)
c.867G>T (p.Leu289=)
17g.74919660C>GCA502036641USH1Gc.1176G>C (p.Leu392=)
c.*775G>C (n.*775G>C)
c.867G>C (p.Leu289=)
17g.74919660C>TCA502036642USH1Gc.1176G>A (p.Leu392=)
c.*775G>A (n.*775G>A)
c.867G>A (p.Leu289=)
17g.74919660_74919661insTCA2576383326USH1Gc.1175_1176insA (p.Glu393GlyfsTer?)
c.*774_*775insA (n.*774_*775insA)
c.866_867insA (p.Glu290GlyfsTer?)
 gnomAD v4
17g.74919661A>CCA400961518USH1Gc.1175T>G (p.Leu392Arg)
c.*774T>G (n.*774T>G)
c.866T>G (p.Leu289Arg)
17g.74919661A>GCA400961519USH1Gc.1175T>C (p.Leu392Pro)
c.*774T>C (n.*774T>C)
c.866T>C (p.Leu289Pro)
17g.74919661A>TCA400961520USH1Gc.1175T>A (p.Leu392Gln)
c.*774T>A (n.*774T>A)
c.866T>A (p.Leu289Gln)
 gnomAD v4
17g.74919661_74919662delinsAGCA2275255196USH1Gc.1174_1175delinsCT (p.Leu392=)
c.*773_*774delinsCT (n.*773_*774delinsCT)
c.865_866delinsCT (p.Leu289=)
17g.74919662delCA2275255197USH1Gc.1174del (p.Leu392TrpfsTer27)
c.*773del (n.*773del)
c.865del (p.Leu289TrpfsTer27)
 dbSNP
17g.74919662G>ACA8753919USH1Gc.1174C>T (p.Leu392=)
c.*773C>T (n.*773C>T)
c.865C>T (p.Leu289=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919662G>CCA400961521USH1Gc.1174C>G (p.Leu392Val)
c.*773C>G (n.*773C>G)
c.865C>G (p.Leu289Val)
17g.74919662G=CA2275255198USH1Gc.1174C= (p.Leu392=)
c.*773C= (n.*773C=)
c.865C= (p.Leu289=)
17g.74919662G>TCA400961522USH1Gc.1174C>A (p.Leu392Met)
c.*773C>A (n.*773C>A)
c.865C>A (p.Leu289Met)
17g.74919663_74919664delCA2576383327USH1Gc.1173_1174del (p.Leu392GlyfsTer?)
c.*772_*773del (n.*772_*773del)
c.864_865del (p.Leu289GlyfsTer?)
 gnomAD v4
17g.74919663C>ACA502036647USH1Gc.1173G>T (p.Pro391=)
c.*772G>T (n.*772G>T)
c.864G>T (p.Pro288=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919663C=CA2275255199USH1Gc.1173G= (p.Pro391=)
c.*772G= (n.*772G=)
c.864G= (p.Pro288=)
17g.74919663C>GCA502036648USH1Gc.1173G>C (p.Pro391=)
c.*772G>C (n.*772G>C)
c.864G>C (p.Pro288=)
 gnomAD v4
17g.74919663C>TCA502036649USH1Gc.1173G>A (p.Pro391=)
c.*772G>A (n.*772G>A)
c.864G>A (p.Pro288=)
 COSMIC
17g.74919669_74919679delCA2639747145USH1Gc.1163_1173del (p.Glu388AlafsTer?)
c.*762_*772del (n.*762_*772del)
c.854_864del (p.Glu285AlafsTer?)
 gnomAD v4
17g.74919664G>ACA400961523USH1Gc.1172C>T (p.Pro391Leu)
c.*771C>T (n.*771C>T)
c.863C>T (p.Pro288Leu)
17g.74919664G>CCA400961524USH1Gc.1172C>G (p.Pro391Arg)
c.*771C>G (n.*771C>G)
c.863C>G (p.Pro288Arg)
17g.74919664G>TCA400961525USH1Gc.1172C>A (p.Pro391Gln)
c.*771C>A (n.*771C>A)
c.863C>A (p.Pro288Gln)
17g.74919665G>ACA400961526USH1Gc.1171C>T (p.Pro391Ser)
c.*770C>T (n.*770C>T)
c.862C>T (p.Pro288Ser)
 gnomAD v4
17g.74919665G>CCA400961527USH1Gc.1171C>G (p.Pro391Ala)
c.*770C>G (n.*770C>G)
c.862C>G (p.Pro288Ala)
17g.74919665G>TCA400961528USH1Gc.1171C>A (p.Pro391Thr)
c.*770C>A (n.*770C>A)
c.862C>A (p.Pro288Thr)
17g.74919665_74919667delCA645598975USH1Gc.1169_1171del (p.Ser390_Pro391delinsThr)
c.*768_*770del (n.*768_*770del)
c.860_862del (p.Ser287_Pro288delinsThr)
 COSMIC
17g.74919666G>ACA8753920USH1Gc.1170C>T (p.Ser390=)
c.*769C>T (n.*769C>T)
c.861C>T (p.Ser287=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919666G>CCA400961530USH1Gc.1170C>G (p.Ser390Arg)
c.*769C>G (n.*769C>G)
c.861C>G (p.Ser287Arg)
 gnomAD v4
17g.74919666G=CA2275255200USH1Gc.1170C= (p.Ser390=)
c.*769C= (n.*769C=)
c.861C= (p.Ser287=)
17g.74919666G>TCA400961529USH1Gc.1170C>A (p.Ser390Arg)
c.*769C>A (n.*769C>A)
c.861C>A (p.Ser287Arg)
 dbSNP gnomAD v3 gnomAD v4
17g.74919667C>ACA400961531USH1Gc.1169G>T (p.Ser390Ile)
c.*768G>T (n.*768G>T)
c.860G>T (p.Ser287Ile)
 dbSNP gnomAD v4
17g.74919667C=CA2275255201USH1Gc.1169G= (p.Ser390=)
c.*768G= (n.*768G=)
c.860G= (p.Ser287=)
17g.74919667C>GCA400961532USH1Gc.1169G>C (p.Ser390Thr)
c.*768G>C (n.*768G>C)
c.860G>C (p.Ser287Thr)
17g.74919667C>TCA400961533USH1Gc.1169G>A (p.Ser390Asn)
c.*768G>A (n.*768G>A)
c.860G>A (p.Ser287Asn)
 gnomAD v4
17g.74919668T>ACA400961534USH1Gc.1168A>T (p.Ser390Cys)
c.*767A>T (n.*767A>T)
c.859A>T (p.Ser287Cys)
17g.74919668T>CCA400961535USH1Gc.1168A>G (p.Ser390Gly)
c.*767A>G (n.*767A>G)
c.859A>G (p.Ser287Gly)
17g.74919668T>GCA400961536USH1Gc.1168A>C (p.Ser390Arg)
c.*767A>C (n.*767A>C)
c.859A>C (p.Ser287Arg)
17g.74919669A=CA2275255202USH1Gc.1167T= (p.Thr389=)
c.*766T= (n.*766T=)
c.858T= (p.Thr286=)
17g.74919669A>CCA502036660USH1Gc.1167T>G (p.Thr389=)
c.*766T>G (n.*766T>G)
c.858T>G (p.Thr286=)
17g.74919669A>GCA502036659USH1Gc.1167T>C (p.Thr389=)
c.*766T>C (n.*766T>C)
c.858T>C (p.Thr286=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.74919669A>TCA502036658USH1Gc.1167T>A (p.Thr389=)
c.*766T>A (n.*766T>A)
c.858T>A (p.Thr286=)
17g.74919670G>ACA400961537USH1Gc.1166C>T (p.Thr389Ile)
c.*765C>T (n.*765C>T)
c.857C>T (p.Thr286Ile)
17g.74919670G>CCA400961538USH1Gc.1166C>G (p.Thr389Ser)
c.*765C>G (n.*765C>G)
c.857C>G (p.Thr286Ser)
17g.74919670G>TCA400961539USH1Gc.1166C>A (p.Thr389Asn)
c.*765C>A (n.*765C>A)
c.857C>A (p.Thr286Asn)
17g.74919671T>ACA400961540USH1Gc.1165A>T (p.Thr389Ser)
c.*764A>T (n.*764A>T)
c.856A>T (p.Thr286Ser)
17g.74919671T>CCA400961541USH1Gc.1165A>G (p.Thr389Ala)
c.*764A>G (n.*764A>G)
c.856A>G (p.Thr286Ala)
17g.74919671T>GCA400961542USH1Gc.1165A>C (p.Thr389Pro)
c.*764A>C (n.*764A>C)
c.856A>C (p.Thr286Pro)
17g.74919672C>ACA400961543USH1Gc.1164G>T (p.Glu388Asp)
c.*763G>T (n.*763G>T)
c.855G>T (p.Glu285Asp)
17g.74919672C=CA2275255203USH1Gc.1164G= (p.Glu388=)
c.*763G= (n.*763G=)
c.855G= (p.Glu285=)
17g.74919672C>GCA8753921USH1Gc.1164G>C (p.Glu388Asp)
c.*763G>C (n.*763G>C)
c.855G>C (p.Glu285Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919672C>TCA502036665USH1Gc.1164G>A (p.Glu388=)
c.*763G>A (n.*763G>A)
c.855G>A (p.Glu285=)
 dbSNP gnomAD v3 gnomAD v4
17g.74919673delCA2639747147USH1Gc.1163del (p.Glu388GlyfsTer?)
c.*762del (n.*762del)
c.854del (p.Glu285GlyfsTer?)
 gnomAD v4
17g.74919673T>ACA400961544USH1Gc.1163A>T (p.Glu388Val)
c.*762A>T (n.*762A>T)
c.854A>T (p.Glu285Val)
17g.74919673T>CCA400961545USH1Gc.1163A>G (p.Glu388Gly)
c.*762A>G (n.*762A>G)
c.854A>G (p.Glu285Gly)
 gnomAD v4
17g.74919673T>GCA400961546USH1Gc.1163A>C (p.Glu388Ala)
c.*762A>C (n.*762A>C)
c.854A>C (p.Glu285Ala)
17g.74919674C>ACA8753923USH1Gc.1162G>T (p.Glu388Ter)
c.*761G>T (n.*761G>T)
c.853G>T (p.Glu285Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919674C=CA2275255204USH1Gc.1162G= (p.Glu388=)
c.*761G= (n.*761G=)
c.853G= (p.Glu285=)
17g.74919674C>GCA400961547USH1Gc.1162G>C (p.Glu388Gln)
c.*761G>C (n.*761G>C)
c.853G>C (p.Glu285Gln)
17g.74919674C>TCA8753922USH1Gc.1162G>A (p.Glu388Lys)
c.*761G>A (n.*761G>A)
c.853G>A (p.Glu285Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.74919674_74919675insAACA2639747148USH1Gc.1161_1162insTT (p.Glu388LeufsTer?)
c.*760_*761insTT (n.*760_*761insTT)
c.852_853insTT (p.Glu285LeufsTer?)
 gnomAD v4
17g.74919675G>ACA502036673USH1Gc.1161C>T (p.Pro387=)
c.*760C>T (n.*760C>T)
c.852C>T (p.Pro284=)
17g.74919675G>CCA502036674USH1Gc.1161C>G (p.Pro387=)
c.*760C>G (n.*760C>G)
c.852C>G (p.Pro284=)
 dbSNP gnomAD v4
17g.74919675G=CA2275255205USH1Gc.1161C= (p.Pro387=)
c.*760C= (n.*760C=)
c.852C= (p.Pro284=)
17g.74919675G>TCA502036675USH1Gc.1161C>A (p.Pro387=)
c.*760C>A (n.*760C>A)
c.852C>A (p.Pro284=)
17g.74919676G>ACA400961548USH1Gc.1160C>T (p.Pro387Leu)
c.*759C>T (n.*759C>T)
c.851C>T (p.Pro284Leu)
17g.74919676G>CCA400961549USH1Gc.1160C>G (p.Pro387Arg)
c.*759C>G (n.*759C>G)
c.851C>G (p.Pro284Arg)
17g.74919676G>TCA400961550USH1Gc.1160C>A (p.Pro387His)
c.*759C>A (n.*759C>A)
c.851C>A (p.Pro284His)
17g.74919677G>ACA400961551USH1Gc.1159C>T (p.Pro387Ser)
c.*758C>T (n.*758C>T)
c.850C>T (p.Pro284Ser)
 COSMIC
17g.74919677G>CCA400961552USH1Gc.1159C>G (p.Pro387Ala)
c.*758C>G (n.*758C>G)
c.850C>G (p.Pro284Ala)
 gnomAD v4
17g.74919677G>TCA400961553USH1Gc.1159C>A (p.Pro387Thr)
c.*758C>A (n.*758C>A)
c.850C>A (p.Pro284Thr)
17g.74919678C>ACA293983566USH1Gc.1158G>T (p.Glu386Asp)
c.*757G>T (n.*757G>T)
c.849G>T (p.Glu283Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919678C=CA2275255206USH1Gc.1158G= (p.Glu386=)
c.*757G= (n.*757G=)
c.849G= (p.Glu283=)
17g.74919678C>GCA400961554USH1Gc.1158G>C (p.Glu386Asp)
c.*757G>C (n.*757G>C)
c.849G>C (p.Glu283Asp)
17g.74919678C>TCA502036681USH1Gc.1158G>A (p.Glu386=)
c.*757G>A (n.*757G>A)
c.849G>A (p.Glu283=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.74919679T>ACA400961555USH1Gc.1157A>T (p.Glu386Val)
c.*756A>T (n.*756A>T)
c.848A>T (p.Glu283Val)
17g.74919679T>CCA400961557USH1Gc.1157A>G (p.Glu386Gly)
c.*756A>G (n.*756A>G)
c.848A>G (p.Glu283Gly)
 gnomAD v4
17g.74919679T>GCA400961556USH1Gc.1157A>C (p.Glu386Ala)
c.*756A>C (n.*756A>C)
c.848A>C (p.Glu283Ala)
17g.74919680C>ACA400961558USH1Gc.1156G>T (p.Glu386Ter)
c.*755G>T (n.*755G>T)
c.847G>T (p.Glu283Ter)
17g.74919680C>GCA400961559USH1Gc.1156G>C (p.Glu386Gln)
c.*755G>C (n.*755G>C)
c.847G>C (p.Glu283Gln)
 gnomAD v4
17g.74919680C>TCA400961560USH1Gc.1156G>A (p.Glu386Lys)
c.*755G>A (n.*755G>A)
c.847G>A (p.Glu283Lys)
17g.74919681C>ACA502036687USH1Gc.1155G>T (p.Leu385=)
c.*754G>T (n.*754G>T)
c.846G>T (p.Leu282=)
17g.74919681C>GCA502036688USH1Gc.1155G>C (p.Leu385=)
c.*754G>C (n.*754G>C)
c.846G>C (p.Leu282=)
17g.74919681C>TCA502036689USH1Gc.1155G>A (p.Leu385=)
c.*754G>A (n.*754G>A)
c.846G>A (p.Leu282=)
 gnomAD v4
17g.74919682A>CCA400961561USH1Gc.1154T>G (p.Leu385Arg)
c.*753T>G (n.*753T>G)
c.845T>G (p.Leu282Arg)
17g.74919682A>GCA400961562USH1Gc.1154T>C (p.Leu385Pro)
c.*753T>C (n.*753T>C)
c.845T>C (p.Leu282Pro)
 gnomAD v4
17g.74919682A>TCA400961563USH1Gc.1154T>A (p.Leu385Gln)
c.*753T>A (n.*753T>A)
c.845T>A (p.Leu282Gln)
17g.74919683G>ACA502036693USH1Gc.1153C>T (p.Leu385=)
c.*752C>T (n.*752C>T)
c.844C>T (p.Leu282=)
 gnomAD v4
17g.74919683G>CCA400961564USH1Gc.1153C>G (p.Leu385Val)
c.*752C>G (n.*752C>G)
c.844C>G (p.Leu282Val)
 dbSNP gnomAD v2 gnomAD v4
17g.74919683G=CA2275255207USH1Gc.1153C= (p.Leu385=)
c.*752C= (n.*752C=)
c.844C= (p.Leu282=)
17g.74919683G>TCA293983567USH1Gc.1153C>A (p.Leu385Met)
c.*752C>A (n.*752C>A)
c.844C>A (p.Leu282Met)
 dbSNP
17g.74919684G>ACA183405USH1Gc.1152C>T (p.Asp384=)
c.*751C>T (n.*751C>T)
c.843C>T (p.Asp281=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919684G>CCA400961565USH1Gc.1152C>G (p.Asp384Glu)
c.*751C>G (n.*751C>G)
c.843C>G (p.Asp281Glu)
17g.74919684G=CA2275255208USH1Gc.1152C= (p.Asp384=)
c.*751C= (n.*751C=)
c.843C= (p.Asp281=)
17g.74919684G>TCA400961566USH1Gc.1152C>A (p.Asp384Glu)
c.*751C>A (n.*751C>A)
c.843C>A (p.Asp281Glu)
17g.74919685T>ACA400961569USH1Gc.1151A>T (p.Asp384Val)
c.*750A>T (n.*750A>T)
c.842A>T (p.Asp281Val)
17g.74919685T>CCA400961568USH1Gc.1151A>G (p.Asp384Gly)
c.*750A>G (n.*750A>G)
c.842A>G (p.Asp281Gly)
17g.74919685T>GCA400961567USH1Gc.1151A>C (p.Asp384Ala)
c.*750A>C (n.*750A>C)
c.842A>C (p.Asp281Ala)
17g.74919686C>ACA400961570USH1Gc.1150G>T (p.Asp384Tyr)
c.*749G>T (n.*749G>T)
c.841G>T (p.Asp281Tyr)
 dbSNP
17g.74919686C=CA2275255209USH1Gc.1150G= (p.Asp384=)
c.*749G= (n.*749G=)
c.841G= (p.Asp281=)
17g.74919686C>GCA400961571USH1Gc.1150G>C (p.Asp384His)
c.*749G>C (n.*749G>C)
c.841G>C (p.Asp281His)
17g.74919686C>TCA400961572USH1Gc.1150G>A (p.Asp384Asn)
c.*749G>A (n.*749G>A)
c.841G>A (p.Asp281Asn)
 gnomAD v4
17g.74919687C>ACA400961573USH1Gc.1149G>T (p.Glu383Asp)
c.*748G>T (n.*748G>T)
c.840G>T (p.Glu280Asp)
17g.74919687C=CA2275255210USH1Gc.1149G= (p.Glu383=)
c.*748G= (n.*748G=)
c.840G= (p.Glu280=)
17g.74919687C>GCA8753924USH1Gc.1149G>C (p.Glu383Asp)
c.*748G>C (n.*748G>C)
c.840G>C (p.Glu280Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919687C>TCA8753925USH1Gc.1149G>A (p.Glu383=)
c.*748G>A (n.*748G>A)
c.840G>A (p.Glu280=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919688T>ACA8753926USH1Gc.1148A>T (p.Glu383Val)
c.*747A>T (n.*747A>T)
c.839A>T (p.Glu280Val)
 dbSNP ExAC gnomAD v4
17g.74919688T>CCA400961574USH1Gc.1148A>G (p.Glu383Gly)
c.*747A>G (n.*747A>G)
c.839A>G (p.Glu280Gly)
17g.74919688T>GCA400961575USH1Gc.1148A>C (p.Glu383Ala)
c.*747A>C (n.*747A>C)
c.839A>C (p.Glu280Ala)
17g.74919688T=CA2275255211USH1Gc.1148A= (p.Glu383=)
c.*747A= (n.*747A=)
c.839A= (p.Glu280=)
17g.74919689C>ACA400961576USH1Gc.1147G>T (p.Glu383Ter)
c.*746G>T (n.*746G>T)
c.838G>T (p.Glu280Ter)
 dbSNP
17g.74919689C=CA2275255212USH1Gc.1147G= (p.Glu383=)
c.*746G= (n.*746G=)
c.838G= (p.Glu280=)
17g.74919689C>GCA400961577USH1Gc.1147G>C (p.Glu383Gln)
c.*746G>C (n.*746G>C)
c.838G>C (p.Glu280Gln)
17g.74919689C>TCA400961578USH1Gc.1147G>A (p.Glu383Lys)
c.*746G>A (n.*746G>A)
c.838G>A (p.Glu280Lys)
 gnomAD v4
17g.74919690G>ACA8753927USH1Gc.1146C>T (p.Asp382=)
c.*745C>T (n.*745C>T)
c.837C>T (p.Asp279=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919690G>CCA400961580USH1Gc.1146C>G (p.Asp382Glu)
c.*745C>G (n.*745C>G)
c.837C>G (p.Asp279Glu)
 gnomAD v4
17g.74919690G=CA2275255213USH1Gc.1146C= (p.Asp382=)
c.*745C= (n.*745C=)
c.837C= (p.Asp279=)
17g.74919690G>TCA400961579USH1Gc.1146C>A (p.Asp382Glu)
c.*745C>A (n.*745C>A)
c.837C>A (p.Asp279Glu)
 gnomAD v4
17g.74919691T>ACA400961581USH1Gc.1145A>T (p.Asp382Val)
c.*744A>T (n.*744A>T)
c.836A>T (p.Asp279Val)
 COSMIC
17g.74919691T>CCA400961582USH1Gc.1145A>G (p.Asp382Gly)
c.*744A>G (n.*744A>G)
c.836A>G (p.Asp279Gly)
17g.74919691T>GCA400961583USH1Gc.1145A>C (p.Asp382Ala)
c.*744A>C (n.*744A>C)
c.836A>C (p.Asp279Ala)
 gnomAD v4
17g.74919692C>ACA400961584USH1Gc.1144G>T (p.Asp382Tyr)
c.*743G>T (n.*743G>T)
c.835G>T (p.Asp279Tyr)
17g.74919692C>GCA400961585USH1Gc.1144G>C (p.Asp382His)
c.*743G>C (n.*743G>C)
c.835G>C (p.Asp279His)
17g.74919692C>TCA400961586USH1Gc.1144G>A (p.Asp382Asn)
c.*743G>A (n.*743G>A)
c.835G>A (p.Asp279Asn)
17g.74919693C>ACA400961588USH1Gc.1143G>T (p.Leu381Phe)
c.*742G>T (n.*742G>T)
c.834G>T (p.Leu278Phe)
17g.74919693C=CA2275255214USH1Gc.1143G= (p.Leu381=)
c.*742G= (n.*742G=)
c.834G= (p.Leu278=)
17g.74919693C>GCA400961587USH1Gc.1143G>C (p.Leu381Phe)
c.*742G>C (n.*742G>C)
c.834G>C (p.Leu278Phe)
17g.74919693C>TCA502036710USH1Gc.1143G>A (p.Leu381=)
c.*742G>A (n.*742G>A)
c.834G>A (p.Leu278=)
 dbSNP gnomAD v3 gnomAD v4
17g.74919694A=CA2275255215USH1Gc.1142T= (p.Leu381=)
c.*741T= (n.*741T=)
c.833T= (p.Leu278=)
17g.74919694A>CCA400961589USH1Gc.1142T>G (p.Leu381Trp)
c.*741T>G (n.*741T>G)
c.833T>G (p.Leu278Trp)
17g.74919694A>GCA400961590USH1Gc.1142T>C (p.Leu381Ser)
c.*741T>C (n.*741T>C)
c.833T>C (p.Leu278Ser)
 ClinVar dbSNP gnomAD v4
17g.74919694A>TCA400961591USH1Gc.1142T>A (p.Leu381Ter)
c.*741T>A (n.*741T>A)
c.833T>A (p.Leu278Ter)
17g.74919695A=CA2275255216USH1Gc.1141T= (p.Leu381=)
c.*740T= (n.*740T=)
c.832T= (p.Leu278=)
17g.74919695A>CCA400961592USH1Gc.1141T>G (p.Leu381Val)
c.*740T>G (n.*740T>G)
c.832T>G (p.Leu278Val)
17g.74919695A>GCA8753928USH1Gc.1141T>C (p.Leu381=)
c.*740T>C (n.*740T>C)
c.832T>C (p.Leu278=)
 dbSNP ExAC gnomAD v2
17g.74919695A>TCA400961593USH1Gc.1141T>A (p.Leu381Met)
c.*740T>A (n.*740T>A)
c.832T>A (p.Leu278Met)
17g.74919696G>ACA293983599USH1Gc.1140C>T (p.Gly380=)
c.*739C>T (n.*739C>T)
c.831C>T (p.Gly277=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919696G>CCA502036713USH1Gc.1140C>G (p.Gly380=)
c.*739C>G (n.*739C>G)
c.831C>G (p.Gly277=)
17g.74919696G=CA2275255217USH1Gc.1140C= (p.Gly380=)
c.*739C= (n.*739C=)
c.831C= (p.Gly277=)
17g.74919696G>TCA502036715USH1Gc.1140C>A (p.Gly380=)
c.*739C>A (n.*739C>A)
c.831C>A (p.Gly277=)
17g.74919697C>ACA400961594USH1Gc.1139G>T (p.Gly380Val)
c.*738G>T (n.*738G>T)
c.830G>T (p.Gly277Val)
17g.74919697C=CA2275255218USH1Gc.1139G= (p.Gly380=)
c.*738G= (n.*738G=)
c.830G= (p.Gly277=)
17g.74919697C>GCA293983603USH1Gc.1139G>C (p.Gly380Ala)
c.*738G>C (n.*738G>C)
c.830G>C (p.Gly277Ala)
 dbSNP
17g.74919697C>TCA8753929USH1Gc.1139G>A (p.Gly380Asp)
c.*738G>A (n.*738G>A)
c.830G>A (p.Gly277Asp)
 dbSNP ExAC gnomAD v2
17g.74919697_74919704delCA2639747151USH1Gc.1132_1139del (p.Asp378LeufsTer10)
c.*731_*738del (n.*731_*738del)
c.823_830del (p.Asp275LeufsTer10)
 gnomAD v4
17g.74919698C>ACA400961595USH1Gc.1138G>T (p.Gly380Cys)
c.*737G>T (n.*737G>T)
c.829G>T (p.Gly277Cys)
17g.74919698C>GCA400961596USH1Gc.1138G>C (p.Gly380Arg)
c.*737G>C (n.*737G>C)
c.829G>C (p.Gly277Arg)
17g.74919698C>TCA400961597USH1Gc.1138G>A (p.Gly380Ser)
c.*737G>A (n.*737G>A)
c.829G>A (p.Gly277Ser)
17g.74919699T>ACA400961598USH1Gc.1137A>T (p.Leu379Phe)
c.*736A>T (n.*736A>T)
c.828A>T (p.Leu276Phe)
 gnomAD v4
17g.74919699T>CCA502036724USH1Gc.1137A>G (p.Leu379=)
c.*736A>G (n.*736A>G)
c.828A>G (p.Leu276=)
17g.74919699T>GCA400961599USH1Gc.1137A>C (p.Leu379Phe)
c.*736A>C (n.*736A>C)
c.828A>C (p.Leu276Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.74919699T=CA2275255219USH1Gc.1137A= (p.Leu379=)
c.*736A= (n.*736A=)
c.828A= (p.Leu276=)
17g.74919700A=CA2275255220USH1Gc.1136T= (p.Leu379=)
c.*735T= (n.*735T=)
c.827T= (p.Leu276=)
17g.74919700A>CCA400961600USH1Gc.1136T>G (p.Leu379Ter)
c.*735T>G (n.*735T>G)
c.827T>G (p.Leu276Ter)
17g.74919700A>GCA293983614USH1Gc.1136T>C (p.Leu379Ser)
c.*735T>C (n.*735T>C)
c.827T>C (p.Leu276Ser)
 dbSNP gnomAD v4 COSMIC
17g.74919700A>TCA400961601USH1Gc.1136T>A (p.Leu379Ter)
c.*735T>A (n.*735T>A)
c.827T>A (p.Leu276Ter)
17g.74919701A>CCA400961602USH1Gc.1135T>G (p.Leu379Val)
c.*734T>G (n.*734T>G)
c.826T>G (p.Leu276Val)
17g.74919701A>GCA502036731USH1Gc.1135T>C (p.Leu379=)
c.*734T>C (n.*734T>C)
c.826T>C (p.Leu276=)
17g.74919701A>TCA400961603USH1Gc.1135T>A (p.Leu379Ile)
c.*734T>A (n.*734T>A)
c.826T>A (p.Leu276Ile)
17g.74919702A>CCA400961604USH1Gc.1134T>G (p.Asp378Glu)
c.*733T>G (n.*733T>G)
c.825T>G (p.Asp275Glu)
17g.74919702A>GCA502036734USH1Gc.1134T>C (p.Asp378=)
c.*733T>C (n.*733T>C)
c.825T>C (p.Asp275=)
 dbSNP
17g.74919702A>TCA400961605USH1Gc.1134T>A (p.Asp378Glu)
c.*733T>A (n.*733T>A)
c.825T>A (p.Asp275Glu)
17g.74919703T>ACA400961608USH1Gc.1133A>T (p.Asp378Val)
c.*732A>T (n.*732A>T)
c.824A>T (p.Asp275Val)
17g.74919703T>CCA400961607USH1Gc.1133A>G (p.Asp378Gly)
c.*732A>G (n.*732A>G)
c.824A>G (p.Asp275Gly)
17g.74919703T>GCA400961606USH1Gc.1133A>C (p.Asp378Ala)
c.*732A>C (n.*732A>C)
c.824A>C (p.Asp275Ala)
17g.74919704C>ACA400961609USH1Gc.1132G>T (p.Asp378Tyr)
c.*731G>T (n.*731G>T)
c.823G>T (p.Asp275Tyr)
17g.74919704C=CA2275255221USH1Gc.1132G= (p.Asp378=)
c.*731G= (n.*731G=)
c.823G= (p.Asp275=)
17g.74919704C>GCA8753930USH1Gc.1132G>C (p.Asp378His)
c.*731G>C (n.*731G>C)
c.823G>C (p.Asp275His)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919704C>TCA400961610USH1Gc.1132G>A (p.Asp378Asn)
c.*731G>A (n.*731G>A)
c.823G>A (p.Asp275Asn)
 ClinVar dbSNP COSMIC
17g.74919705G>ACA502036739USH1Gc.1131C>T (p.Leu377=)
c.*730C>T (n.*730C>T)
c.822C>T (p.Leu274=)
17g.74919705G>CCA502036741USH1Gc.1131C>G (p.Leu377=)
c.*730C>G (n.*730C>G)
c.822C>G (p.Leu274=)
 dbSNP gnomAD v3 gnomAD v4
17g.74919705G=CA2275255222USH1Gc.1131C= (p.Leu377=)
c.*730C= (n.*730C=)
c.822C= (p.Leu274=)
17g.74919705G>TCA502036740USH1Gc.1131C>A (p.Leu377=)
c.*730C>A (n.*730C>A)
c.822C>A (p.Leu274=)
 gnomAD v4
17g.74919706delCA2639747154USH1Gc.1130del (p.Leu377ProfsTer3)
c.*729del (n.*729del)
c.821del (p.Leu274ProfsTer3)
 gnomAD v4
17g.74919706A>CCA400961611USH1Gc.1130T>G (p.Leu377Arg)
c.*729T>G (n.*729T>G)
c.821T>G (p.Leu274Arg)
17g.74919706A>GCA400961613USH1Gc.1130T>C (p.Leu377Pro)
c.*729T>C (n.*729T>C)
c.821T>C (p.Leu274Pro)
17g.74919706A>TCA400961612USH1Gc.1130T>A (p.Leu377His)
c.*729T>A (n.*729T>A)
c.821T>A (p.Leu274His)
17g.74919707G>ACA400961614USH1Gc.1129C>T (p.Leu377Phe)
c.*728C>T (n.*728C>T)
c.820C>T (p.Leu274Phe)
17g.74919707G>CCA400961616USH1Gc.1129C>G (p.Leu377Val)
c.*728C>G (n.*728C>G)
c.820C>G (p.Leu274Val)
 gnomAD v4
17g.74919707G>TCA400961615USH1Gc.1129C>A (p.Leu377Ile)
c.*728C>A (n.*728C>A)
c.820C>A (p.Leu274Ile)
 dbSNP
17g.74919707_74919708insGTTACAGTGATTGTGCCACTGCACTCCAGCCA2810423892USH1Gc.1128_1129insGCTGGAGTGCAGTGGCACAATCACTGTAAC (p.Glu376_Leu377insAlaGlyValGlnTrpHisAsnHisCysAsn)
c.*727_*728insGCTGGAGTGCAGTGGCACAATCACTGTAAC (n.*727_*728insGCTGGAGTGCAGTGGCACAATCACTGTAAC)
c.819_820insGCTGGAGTGCAGTGGCACAATCACTGTAAC (p.Glu273_Leu274insAlaGlyValGlnTrpHisAsnHisCysAsn)
17g.74919708C>ACA400961617USH1Gc.1128G>T (p.Glu376Asp)
c.*727G>T (n.*727G>T)
c.819G>T (p.Glu273Asp)
17g.74919708C=CA2275255223USH1Gc.1128G= (p.Glu376=)
c.*727G= (n.*727G=)
c.819G= (p.Glu273=)
17g.74919708C>GCA400961618USH1Gc.1128G>C (p.Glu376Asp)
c.*727G>C (n.*727G>C)
c.819G>C (p.Glu273Asp)
17g.74919708C>TCA293983628USH1Gc.1128G>A (p.Glu376=)
c.*727G>A (n.*727G>A)
c.819G>A (p.Glu273=)
 dbSNP gnomAD v3 gnomAD v4
17g.74919709T>ACA400961619USH1Gc.1127A>T (p.Glu376Val)
c.*726A>T (n.*726A>T)
c.818A>T (p.Glu273Val)
17g.74919709T>CCA400961620USH1Gc.1127A>G (p.Glu376Gly)
c.*726A>G (n.*726A>G)
c.818A>G (p.Glu273Gly)
17g.74919709T>GCA400961621USH1Gc.1127A>C (p.Glu376Ala)
c.*726A>C (n.*726A>C)
c.818A>C (p.Glu273Ala)
17g.74919710C>ACA400961622USH1Gc.1126G>T (p.Glu376Ter)
c.*725G>T (n.*725G>T)
c.817G>T (p.Glu273Ter)
17g.74919710C>GCA400961623USH1Gc.1126G>C (p.Glu376Gln)
c.*725G>C (n.*725G>C)
c.817G>C (p.Glu273Gln)
17g.74919710C>TCA400961624USH1Gc.1126G>A (p.Glu376Lys)
c.*725G>A (n.*725G>A)
c.817G>A (p.Glu273Lys)
17g.74919711A>CCA400961625USH1Gc.1125T>G (p.Asp375Glu)
c.*724T>G (n.*724T>G)
c.816T>G (p.Asp272Glu)
 gnomAD v4
17g.74919711A>GCA502036756USH1Gc.1125T>C (p.Asp375=)
c.*724T>C (n.*724T>C)
c.816T>C (p.Asp272=)
 gnomAD v4
17g.74919711A>TCA400961626USH1Gc.1125T>A (p.Asp375Glu)
c.*724T>A (n.*724T>A)
c.816T>A (p.Asp272Glu)
17g.74919712T>ACA400961629USH1Gc.1124A>T (p.Asp375Val)
c.*723A>T (n.*723A>T)
c.815A>T (p.Asp272Val)
17g.74919712T>CCA400961627USH1Gc.1124A>G (p.Asp375Gly)
c.*723A>G (n.*723A>G)
c.815A>G (p.Asp272Gly)
 gnomAD v4
17g.74919712T>GCA400961628USH1Gc.1124A>C (p.Asp375Ala)
c.*723A>C (n.*723A>C)
c.815A>C (p.Asp272Ala)
17g.74919713C>ACA400961630USH1Gc.1123G>T (p.Asp375Tyr)
c.*722G>T (n.*722G>T)
c.814G>T (p.Asp272Tyr)
17g.74919713C>GCA400961631USH1Gc.1123G>C (p.Asp375His)
c.*722G>C (n.*722G>C)
c.814G>C (p.Asp272His)
17g.74919713C>TCA400961632USH1Gc.1123G>A (p.Asp375Asn)
c.*722G>A (n.*722G>A)
c.814G>A (p.Asp272Asn)
17g.74919714C>ACA400961633USH1Gc.1122G>T (p.Trp374Cys)
c.*721G>T (n.*721G>T)
c.813G>T (p.Trp271Cys)
17g.74919714C>GCA400961634USH1Gc.1122G>C (p.Trp374Cys)
c.*721G>C (n.*721G>C)
c.813G>C (p.Trp271Cys)
17g.74919714C>TCA400961636USH1Gc.1122G>A (p.Trp374Ter)
c.*721G>A (n.*721G>A)
c.813G>A (p.Trp271Ter)
17g.74919715C>ACA400961638USH1Gc.1121G>T (p.Trp374Leu)
c.*720G>T (n.*720G>T)
c.812G>T (p.Trp271Leu)
17g.74919715C>GCA400961640USH1Gc.1121G>C (p.Trp374Ser)
c.*720G>C (n.*720G>C)
c.812G>C (p.Trp271Ser)
17g.74919715C>TCA400961641USH1Gc.1121G>A (p.Trp374Ter)
c.*720G>A (n.*720G>A)
c.812G>A (p.Trp271Ter)
17g.74919716A=CA2275255224USH1Gc.1120T= (p.Trp374=)
c.*719T= (n.*719T=)
c.811T= (p.Trp271=)
17g.74919716A>CCA400961646USH1Gc.1120T>G (p.Trp374Gly)
c.*719T>G (n.*719T>G)
c.811T>G (p.Trp271Gly)
 dbSNP gnomAD v4
17g.74919716A>GCA400961647USH1Gc.1120T>C (p.Trp374Arg)
c.*719T>C (n.*719T>C)
c.811T>C (p.Trp271Arg)
17g.74919716A>TCA400961644USH1Gc.1120T>A (p.Trp374Arg)
c.*719T>A (n.*719T>A)
c.811T>A (p.Trp271Arg)
17g.74919717G>ACA502036763USH1Gc.1119C>T (p.Pro373=)
c.*718C>T (n.*718C>T)
c.810C>T (p.Pro270=)
17g.74919717G>CCA502036765USH1Gc.1119C>G (p.Pro373=)
c.*718C>G (n.*718C>G)
c.810C>G (p.Pro270=)
 dbSNP gnomAD v4
17g.74919717G=CA2275255225USH1Gc.1119C= (p.Pro373=)
c.*718C= (n.*718C=)
c.810C= (p.Pro270=)
17g.74919717G>TCA502036766USH1Gc.1119C>A (p.Pro373=)
c.*718C>A (n.*718C>A)
c.810C>A (p.Pro270=)
 gnomAD v4 COSMIC
17g.74919718G>ACA293983645USH1Gc.1118C>T (p.Pro373Leu)
c.*717C>T (n.*717C>T)
c.809C>T (p.Pro270Leu)
 dbSNP gnomAD v4
17g.74919718G>CCA400961650USH1Gc.1118C>G (p.Pro373Arg)
c.*717C>G (n.*717C>G)
c.809C>G (p.Pro270Arg)
 dbSNP
17g.74919718G=CA2275255226USH1Gc.1118C= (p.Pro373=)
c.*717C= (n.*717C=)
c.809C= (p.Pro270=)
17g.74919718G>TCA400961651USH1Gc.1118C>A (p.Pro373His)
c.*717C>A (n.*717C>A)
c.809C>A (p.Pro270His)
17g.74919719G>ACA293983652USH1Gc.1117C>T (p.Pro373Ser)
c.*716C>T (n.*716C>T)
c.808C>T (p.Pro270Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919719G>CCA400961652USH1Gc.1117C>G (p.Pro373Ala)
c.*716C>G (n.*716C>G)
c.808C>G (p.Pro270Ala)
17g.74919719G=CA2275255227USH1Gc.1117C= (p.Pro373=)
c.*716C= (n.*716C=)
c.808C= (p.Pro270=)
17g.74919719G>TCA400961654USH1Gc.1117C>A (p.Pro373Thr)
c.*716C>A (n.*716C>A)
c.808C>A (p.Pro270Thr)
17g.74919720C>ACA502036772USH1Gc.1116G>T (p.Leu372=)
c.*715G>T (n.*715G>T)
c.807G>T (p.Leu269=)
 gnomAD v4
17g.74919720C=CA2275255228USH1Gc.1116G= (p.Leu372=)
c.*715G= (n.*715G=)
c.807G= (p.Leu269=)
17g.74919720C>GCA502036773USH1Gc.1116G>C (p.Leu372=)
c.*715G>C (n.*715G>C)
c.807G>C (p.Leu269=)
17g.74919720C>TCA502036775USH1Gc.1116G>A (p.Leu372=)
c.*715G>A (n.*715G>A)
c.807G>A (p.Leu269=)
 dbSNP gnomAD v4
17g.74919721A>CCA400961656USH1Gc.1115T>G (p.Leu372Arg)
c.*714T>G (n.*714T>G)
c.806T>G (p.Leu269Arg)
17g.74919721A>GCA400961660USH1Gc.1115T>C (p.Leu372Pro)
c.*714T>C (n.*714T>C)
c.806T>C (p.Leu269Pro)
17g.74919721A>TCA400961658USH1Gc.1115T>A (p.Leu372Gln)
c.*714T>A (n.*714T>A)
c.806T>A (p.Leu269Gln)
17g.74919722G>ACA502036779USH1Gc.1114C>T (p.Leu372=)
c.*713C>T (n.*713C>T)
c.805C>T (p.Leu269=)
 gnomAD v4
17g.74919722G>CCA400961662USH1Gc.1114C>G (p.Leu372Val)
c.*713C>G (n.*713C>G)
c.805C>G (p.Leu269Val)
17g.74919722G>TCA400961663USH1Gc.1114C>A (p.Leu372Met)
c.*713C>A (n.*713C>A)
c.805C>A (p.Leu269Met)
17g.74919723C>ACA400961665USH1Gc.1113G>T (p.Glu371Asp)
c.*712G>T (n.*712G>T)
c.804G>T (p.Glu268Asp)
17g.74919723C=CA2275255229USH1Gc.1113G= (p.Glu371=)
c.*712G= (n.*712G=)
c.804G= (p.Glu268=)
17g.74919723C>GCA400961667USH1Gc.1113G>C (p.Glu371Asp)
c.*712G>C (n.*712G>C)
c.804G>C (p.Glu268Asp)
17g.74919723C>TCA502036782USH1Gc.1113G>A (p.Glu371=)
c.*712G>A (n.*712G>A)
c.804G>A (p.Glu268=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.74919724T>ACA400961669USH1Gc.1112A>T (p.Glu371Val)
c.*711A>T (n.*711A>T)
c.803A>T (p.Glu268Val)
17g.74919724T>CCA400961673USH1Gc.1112A>G (p.Glu371Gly)
c.*711A>G (n.*711A>G)
c.803A>G (p.Glu268Gly)
17g.74919724T>GCA400961671USH1Gc.1112A>C (p.Glu371Ala)
c.*711A>C (n.*711A>C)
c.803A>C (p.Glu268Ala)
17g.74919725C>ACA400961675USH1Gc.1111G>T (p.Glu371Ter)
c.*710G>T (n.*710G>T)
c.802G>T (p.Glu268Ter)
17g.74919725C=CA2275255230USH1Gc.1111G= (p.Glu371=)
c.*710G= (n.*710G=)
c.802G= (p.Glu268=)
17g.74919725C>GCA400961676USH1Gc.1111G>C (p.Glu371Gln)
c.*710G>C (n.*710G>C)
c.802G>C (p.Glu268Gln)
 dbSNP gnomAD v3 gnomAD v4
17g.74919725C>TCA400961678USH1Gc.1111G>A (p.Glu371Lys)
c.*710G>A (n.*710G>A)
c.802G>A (p.Glu268Lys)
17g.74919726C>ACA400961680USH1Gc.1110G>T (p.Glu370Asp)
c.*709G>T (n.*709G>T)
c.801G>T (p.Glu267Asp)
17g.74919726C=CA2275255231USH1Gc.1110G= (p.Glu370=)
c.*709G= (n.*709G=)
c.801G= (p.Glu267=)
17g.74919726C>GCA400961682USH1Gc.1110G>C (p.Glu370Asp)
c.*709G>C (n.*709G>C)
c.801G>C (p.Glu267Asp)
 ClinVar dbSNP gnomAD v4
17g.74919726C>TCA502036788USH1Gc.1110G>A (p.Glu370=)
c.*709G>A (n.*709G>A)
c.801G>A (p.Glu267=)
17g.74919727T>ACA400961684USH1Gc.1109A>T (p.Glu370Val)
c.*708A>T (n.*708A>T)
c.800A>T (p.Glu267Val)
17g.74919727T>CCA400961686USH1Gc.1109A>G (p.Glu370Gly)
c.*708A>G (n.*708A>G)
c.800A>G (p.Glu267Gly)
17g.74919727T>GCA400961688USH1Gc.1109A>C (p.Glu370Ala)
c.*708A>C (n.*708A>C)
c.800A>C (p.Glu267Ala)
17g.74919728C>ACA400961690USH1Gc.1108G>T (p.Glu370Ter)
c.*707G>T (n.*707G>T)
c.799G>T (p.Glu267Ter)
17g.74919728C=CA2275255232USH1Gc.1108G= (p.Glu370=)
c.*707G= (n.*707G=)
c.799G= (p.Glu267=)
17g.74919728C>GCA400961691USH1Gc.1108G>C (p.Glu370Gln)
c.*707G>C (n.*707G>C)
c.799G>C (p.Glu267Gln)
17g.74919728C>TCA400961693USH1Gc.1108G>A (p.Glu370Lys)
c.*707G>A (n.*707G>A)
c.799G>A (p.Glu267Lys)
 dbSNP
17g.74919729C>ACA502036795USH1Gc.1107G>T (p.Gly369=)
c.*706G>T (n.*706G>T)
c.798G>T (p.Gly266=)
17g.74919729C>GCA502036796USH1Gc.1107G>C (p.Gly369=)
c.*706G>C (n.*706G>C)
c.798G>C (p.Gly266=)
17g.74919729C>TCA502036799USH1Gc.1107G>A (p.Gly369=)
c.*706G>A (n.*706G>A)
c.798G>A (p.Gly266=)
17g.74919730C>ACA400961695USH1Gc.1106G>T (p.Gly369Val)
c.*705G>T (n.*705G>T)
c.797G>T (p.Gly266Val)
 gnomAD v4
17g.74919730C>GCA400961697USH1Gc.1106G>C (p.Gly369Ala)
c.*705G>C (n.*705G>C)
c.797G>C (p.Gly266Ala)
17g.74919730C>TCA400961694USH1Gc.1106G>A (p.Gly369Glu)
c.*705G>A (n.*705G>A)
c.797G>A (p.Gly266Glu)
17g.74919731C>ACA400961702USH1Gc.1105G>T (p.Gly369Trp)
c.*704G>T (n.*704G>T)
c.796G>T (p.Gly266Trp)
 gnomAD v4
17g.74919731C=CA2275255233USH1Gc.1105G= (p.Gly369=)
c.*704G= (n.*704G=)
c.796G= (p.Gly266=)
17g.74919731C>GCA400961698USH1Gc.1105G>C (p.Gly369Arg)
c.*704G>C (n.*704G>C)
c.796G>C (p.Gly266Arg)
17g.74919731C>TCA400961700USH1Gc.1105G>A (p.Gly369Arg)
c.*704G>A (n.*704G>A)
c.796G>A (p.Gly266Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.74919732A>CCA400961705USH1Gc.1104T>G (p.Cys368Trp)
c.*703T>G (n.*703T>G)
c.795T>G (p.Cys265Trp)
17g.74919732A>GCA502036808USH1Gc.1104T>C (p.Cys368=)
c.*703T>C (n.*703T>C)
c.795T>C (p.Cys265=)
17g.74919732A>TCA400961707USH1Gc.1104T>A (p.Cys368Ter)
c.*703T>A (n.*703T>A)
c.795T>A (p.Cys265Ter)

Number of alleles fetched