Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.74920136A>CCA400963799USH1Gc.700T>G (p.Ser234Ala)
c.*299T>G (n.*299T>G)
c.391T>G (p.Ser131Ala)
 gnomAD v4
17g.74920136A>GCA400963800USH1Gc.700T>C (p.Ser234Pro)
c.*299T>C (n.*299T>C)
c.391T>C (p.Ser131Pro)
17g.74920136A>TCA400963798USH1Gc.700T>A (p.Ser234Thr)
c.*299T>A (n.*299T>A)
c.391T>A (p.Ser131Thr)
17g.74920137G>ACA502036610USH1Gc.699C>T (p.Val233=)
c.*298C>T (n.*298C>T)
c.390C>T (p.Val130=)
 COSMIC
17g.74920137G>CCA502036613USH1Gc.699C>G (p.Val233=)
c.*298C>G (n.*298C>G)
c.390C>G (p.Val130=)
 dbSNP
17g.74920137G>TCA502036612USH1Gc.699C>A (p.Val233=)
c.*298C>A (n.*298C>A)
c.390C>A (p.Val130=)
 gnomAD v4
17g.74920138A>CCA400963801USH1Gc.698T>G (p.Val233Gly)
c.*297T>G (n.*297T>G)
c.389T>G (p.Val130Gly)
17g.74920138A>GCA400963802USH1Gc.698T>C (p.Val233Ala)
c.*297T>C (n.*297T>C)
c.389T>C (p.Val130Ala)
17g.74920138A>TCA400963804USH1Gc.698T>A (p.Val233Asp)
c.*297T>A (n.*297T>A)
c.389T>A (p.Val130Asp)
17g.74920139C>ACA400963806USH1Gc.697G>T (p.Val233Phe)
c.*296G>T (n.*296G>T)
c.388G>T (p.Val130Phe)
 gnomAD v4
17g.74920139C>GCA400963807USH1Gc.697G>C (p.Val233Leu)
c.*296G>C (n.*296G>C)
c.388G>C (p.Val130Leu)
17g.74920139C>TCA400963809USH1Gc.697G>A (p.Val233Ile)
c.*296G>A (n.*296G>A)
c.388G>A (p.Val130Ile)
17g.74920139_74920140insGCA913184936USH1Gc.696_697insC (p.Val233ArgfsTer?)
c.*295_*296insC (n.*295_*296insC)
c.387_388insC (p.Val130ArgfsTer?)
17g.74920140C>ACA400963812USH1Gc.696G>T (p.Lys232Asn)
c.*295G>T (n.*295G>T)
c.387G>T (p.Lys129Asn)
 gnomAD v4
17g.74920140C=CA2275255459USH1Gc.696G= (p.Lys232=)
c.*295G= (n.*295G=)
c.387G= (p.Lys129=)
17g.74920140C>GCA400963815USH1Gc.696G>C (p.Lys232Asn)
c.*295G>C (n.*295G>C)
c.387G>C (p.Lys129Asn)
17g.74920140C>TCA502036618USH1Gc.696G>A (p.Lys232=)
c.*295G>A (n.*295G>A)
c.387G>A (p.Lys129=)
 dbSNP gnomAD v2 gnomAD v4
17g.74920141T>ACA400963819USH1Gc.695A>T (p.Lys232Met)
c.*294A>T (n.*294A>T)
c.386A>T (p.Lys129Met)
17g.74920141T>CCA400963821USH1Gc.695A>G (p.Lys232Arg)
c.*294A>G (n.*294A>G)
c.386A>G (p.Lys129Arg)
 dbSNP gnomAD v4
17g.74920141T>GCA400963824USH1Gc.695A>C (p.Lys232Thr)
c.*294A>C (n.*294A>C)
c.386A>C (p.Lys129Thr)
17g.74920141T=CA2275255460USH1Gc.695A= (p.Lys232=)
c.*294A= (n.*294A=)
c.386A= (p.Lys129=)
17g.74920142T>ACA400963825USH1Gc.694A>T (p.Lys232Ter)
c.*293A>T (n.*293A>T)
c.385A>T (p.Lys129Ter)
17g.74920142T>CCA400963827USH1Gc.694A>G (p.Lys232Glu)
c.*293A>G (n.*293A>G)
c.385A>G (p.Lys129Glu)
17g.74920142T>GCA8754021USH1Gc.694A>C (p.Lys232Gln)
c.*293A>C (n.*293A>C)
c.385A>C (p.Lys129Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920142T=CA2275255461USH1Gc.694A= (p.Lys232=)
c.*293A= (n.*293A=)
c.385A= (p.Lys129=)
17g.74920143G>ACA502036622USH1Gc.693C>T (p.Phe231=)
c.*292C>T (n.*292C>T)
c.384C>T (p.Phe128=)
17g.74920143G>CCA400963831USH1Gc.693C>G (p.Phe231Leu)
c.*292C>G (n.*292C>G)
c.384C>G (p.Phe128Leu)
 COSMIC
17g.74920143G>TCA400963833USH1Gc.693C>A (p.Phe231Leu)
c.*292C>A (n.*292C>A)
c.384C>A (p.Phe128Leu)
 gnomAD v4
17g.74920144A=CA2275255462USH1Gc.692T= (p.Phe231=)
c.*291T= (n.*291T=)
c.383T= (p.Phe128=)
17g.74920144A>CCA400963834USH1Gc.692T>G (p.Phe231Cys)
c.*291T>G (n.*291T>G)
c.383T>G (p.Phe128Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74920144A>GCA400963840USH1Gc.692T>C (p.Phe231Ser)
c.*291T>C (n.*291T>C)
c.383T>C (p.Phe128Ser)
17g.74920144A>TCA400963837USH1Gc.692T>A (p.Phe231Tyr)
c.*291T>A (n.*291T>A)
c.383T>A (p.Phe128Tyr)
17g.74920145A>CCA400963844USH1Gc.691T>G (p.Phe231Val)
c.*290T>G (n.*290T>G)
c.382T>G (p.Phe128Val)
17g.74920145A>GCA400963847USH1Gc.691T>C (p.Phe231Leu)
c.*290T>C (n.*290T>C)
c.382T>C (p.Phe128Leu)
17g.74920145A>TCA400963845USH1Gc.691T>A (p.Phe231Ile)
c.*290T>A (n.*290T>A)
c.382T>A (p.Phe128Ile)
 gnomAD v4
17g.74920146G>ACA502036627USH1Gc.690C>T (p.Thr230=)
c.*289C>T (n.*289C>T)
c.381C>T (p.Thr127=)
 dbSNP gnomAD v2 gnomAD v4
17g.74920146G>CCA502036628USH1Gc.690C>G (p.Thr230=)
c.*289C>G (n.*289C>G)
c.381C>G (p.Thr127=)
17g.74920146G=CA2275255463USH1Gc.690C= (p.Thr230=)
c.*289C= (n.*289C=)
c.381C= (p.Thr127=)
17g.74920146G>TCA502036629USH1Gc.690C>A (p.Thr230=)
c.*289C>A (n.*289C>A)
c.381C>A (p.Thr127=)
 gnomAD v4
17g.74920147G>ACA400963850USH1Gc.689C>T (p.Thr230Ile)
c.*288C>T (n.*288C>T)
c.380C>T (p.Thr127Ile)
 COSMIC
17g.74920147G>CCA400963852USH1Gc.689C>G (p.Thr230Ser)
c.*288C>G (n.*288C>G)
c.380C>G (p.Thr127Ser)
 gnomAD v4
17g.74920147G>TCA400963855USH1Gc.689C>A (p.Thr230Asn)
c.*288C>A (n.*288C>A)
c.380C>A (p.Thr127Asn)
 gnomAD v4
17g.74920147_74920161delinsGTGCCTTCGCCGCCCCA2275255464USH1Gc.675_689delinsGGGCGGCGAAGGCAC (p.Gln225=)
c.*274_*288delinsGGGCGGCGAAGGCAC (n.*274_*288delinsGGGCGGCGAAGGCAC)
c.366_380delinsGGGCGGCGAAGGCAC (p.Gln122=)
17g.74920148T>ACA400963857USH1Gc.688A>T (p.Thr230Ser)
c.*287A>T (n.*287A>T)
c.379A>T (p.Thr127Ser)
17g.74920148T>CCA400963860USH1Gc.688A>G (p.Thr230Ala)
c.*287A>G (n.*287A>G)
c.379A>G (p.Thr127Ala)
17g.74920148T>GCA400963861USH1Gc.688A>C (p.Thr230Pro)
c.*287A>C (n.*287A>C)
c.379A>C (p.Thr127Pro)
17g.74920151_74920164delCA2275255465USH1Gc.675_688del (p.Gln225HisfsTer?)
c.*274_*287del (n.*274_*287del)
c.366_379del (p.Gln122HisfsTer?)
 dbSNP
17g.74920149G>ACA502036634USH1Gc.687C>T (p.Gly229=)
c.*286C>T (n.*286C>T)
c.378C>T (p.Gly126=)
 dbSNP gnomAD v4
17g.74920149G>CCA502036635USH1Gc.687C>G (p.Gly229=)
c.*286C>G (n.*286C>G)
c.378C>G (p.Gly126=)
17g.74920149G=CA2275255466USH1Gc.687C= (p.Gly229=)
c.*286C= (n.*286C=)
c.378C= (p.Gly126=)
17g.74920149G>TCA502036636USH1Gc.687C>A (p.Gly229=)
c.*286C>A (n.*286C>A)
c.378C>A (p.Gly126=)
 gnomAD v4
17g.74920150C>ACA400963869USH1Gc.686G>T (p.Gly229Val)
c.*285G>T (n.*285G>T)
c.377G>T (p.Gly126Val)
 gnomAD v4
17g.74920150C>GCA400963864USH1Gc.686G>C (p.Gly229Ala)
c.*285G>C (n.*285G>C)
c.377G>C (p.Gly126Ala)
17g.74920150C>TCA400963866USH1Gc.686G>A (p.Gly229Asp)
c.*285G>A (n.*285G>A)
c.377G>A (p.Gly126Asp)
 gnomAD v4
17g.74920151C>ACA400963873USH1Gc.685G>T (p.Gly229Cys)
c.*284G>T (n.*284G>T)
c.376G>T (p.Gly126Cys)
17g.74920151C>GCA400963875USH1Gc.685G>C (p.Gly229Arg)
c.*284G>C (n.*284G>C)
c.376G>C (p.Gly126Arg)
17g.74920151C>TCA400963877USH1Gc.685G>A (p.Gly229Ser)
c.*284G>A (n.*284G>A)
c.376G>A (p.Gly126Ser)
17g.74920152T>ACA400963879USH1Gc.684A>T (p.Glu228Asp)
c.*283A>T (n.*283A>T)
c.375A>T (p.Glu125Asp)
 dbSNP gnomAD v3 gnomAD v4
17g.74920152T>CCA502036639USH1Gc.684A>G (p.Glu228=)
c.*283A>G (n.*283A>G)
c.375A>G (p.Glu125=)
 dbSNP gnomAD v3 gnomAD v4
17g.74920152T>GCA400963880USH1Gc.684A>C (p.Glu228Asp)
c.*283A>C (n.*283A>C)
c.375A>C (p.Glu125Asp)
 gnomAD v4
17g.74920152T=CA2275255467USH1Gc.684A= (p.Glu228=)
c.*283A= (n.*283A=)
c.375A= (p.Glu125=)
17g.74920152_74920153insAGTACA2810423986USH1Gc.683_684insTACT (p.Glu228AspfsTer?)
c.*282_*283insTACT (n.*282_*283insTACT)
c.374_375insTACT (p.Glu125AspfsTer?)
17g.74920153T>ACA400963883USH1Gc.683A>T (p.Glu228Val)
c.*282A>T (n.*282A>T)
c.374A>T (p.Glu125Val)
17g.74920153T>CCA400963886USH1Gc.683A>G (p.Glu228Gly)
c.*282A>G (n.*282A>G)
c.374A>G (p.Glu125Gly)
17g.74920153T>GCA400963885USH1Gc.683A>C (p.Glu228Ala)
c.*282A>C (n.*282A>C)
c.374A>C (p.Glu125Ala)
17g.74920154C>ACA400963888USH1Gc.682G>T (p.Glu228Ter)
c.*281G>T (n.*281G>T)
c.373G>T (p.Glu125Ter)
 gnomAD v4
17g.74920154C>GCA400963890USH1Gc.682G>C (p.Glu228Gln)
c.*281G>C (n.*281G>C)
c.373G>C (p.Glu125Gln)
17g.74920154C>TCA400963892USH1Gc.682G>A (p.Glu228Lys)
c.*281G>A (n.*281G>A)
c.373G>A (p.Glu125Lys)
 gnomAD v4 COSMIC
17g.74920155_74920159delCA2639748090USH1Gc.678_682del (p.Gly227ArgfsTer?)
c.*277_*281del (n.*277_*281del)
c.369_373del (p.Gly124ArgfsTer?)
 gnomAD v4
17g.74920155G>ACA8754022USH1Gc.681C>T (p.Gly227=)
c.*280C>T (n.*280C>T)
c.372C>T (p.Gly124=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920155G>CCA502036645USH1Gc.681C>G (p.Gly227=)
c.*280C>G (n.*280C>G)
c.372C>G (p.Gly124=)
 dbSNP gnomAD v3 gnomAD v4
17g.74920155G=CA2275255468USH1Gc.681C= (p.Gly227=)
c.*280C= (n.*280C=)
c.372C= (p.Gly124=)
17g.74920155G>TCA502036646USH1Gc.681C>A (p.Gly227=)
c.*280C>A (n.*280C>A)
c.372C>A (p.Gly124=)
 dbSNP gnomAD v4
17g.74920156C>ACA400963897USH1Gc.680G>T (p.Gly227Val)
c.*279G>T (n.*279G>T)
c.371G>T (p.Gly124Val)
17g.74920156C>GCA400963899USH1Gc.680G>C (p.Gly227Ala)
c.*279G>C (n.*279G>C)
c.371G>C (p.Gly124Ala)
17g.74920156C>TCA400963901USH1Gc.680G>A (p.Gly227Asp)
c.*279G>A (n.*279G>A)
c.371G>A (p.Gly124Asp)
 gnomAD v4
17g.74920157C>ACA400963904USH1Gc.679G>T (p.Gly227Cys)
c.*278G>T (n.*278G>T)
c.370G>T (p.Gly124Cys)
 gnomAD v4
17g.74920157C>GCA400963907USH1Gc.679G>C (p.Gly227Arg)
c.*278G>C (n.*278G>C)
c.370G>C (p.Gly124Arg)
17g.74920157C>TCA400963908USH1Gc.679G>A (p.Gly227Ser)
c.*278G>A (n.*278G>A)
c.370G>A (p.Gly124Ser)
 COSMIC
17g.74920158G>ACA502036651USH1Gc.678C>T (p.Gly226=)
c.*277C>T (n.*277C>T)
c.369C>T (p.Gly123=)
 gnomAD v4
17g.74920158G>CCA502036650USH1Gc.678C>G (p.Gly226=)
c.*277C>G (n.*277C>G)
c.369C>G (p.Gly123=)
17g.74920158G=CA2275255469USH1Gc.678C= (p.Gly226=)
c.*277C= (n.*277C=)
c.369C= (p.Gly123=)
17g.74920158G>TCA142662USH1Gc.678C>A (p.Gly226=)
c.*277C>A (n.*277C>A)
c.369C>A (p.Gly123=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920159C>ACA400963917USH1Gc.677G>T (p.Gly226Val)
c.*276G>T (n.*276G>T)
c.368G>T (p.Gly123Val)
 gnomAD v4
17g.74920159C=CA2275255470USH1Gc.677G= (p.Gly226=)
c.*276G= (n.*276G=)
c.368G= (p.Gly123=)
17g.74920159C>GCA400963920USH1Gc.677G>C (p.Gly226Ala)
c.*276G>C (n.*276G>C)
c.368G>C (p.Gly123Ala)
17g.74920159C>TCA8754023USH1Gc.677G>A (p.Gly226Asp)
c.*276G>A (n.*276G>A)
c.368G>A (p.Gly123Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920160C>ACA400963923USH1Gc.676G>T (p.Gly226Cys)
c.*275G>T (n.*275G>T)
c.367G>T (p.Gly123Cys)
17g.74920160C=CA2275255471USH1Gc.676G= (p.Gly226=)
c.*275G= (n.*275G=)
c.367G= (p.Gly123=)
17g.74920160C>GCA400963926USH1Gc.676G>C (p.Gly226Arg)
c.*275G>C (n.*275G>C)
c.367G>C (p.Gly123Arg)
17g.74920160C>TCA8754024USH1Gc.676G>A (p.Gly226Ser)
c.*275G>A (n.*275G>A)
c.367G>A (p.Gly123Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920161C>ACA400963934USH1Gc.675G>T (p.Gln225His)
c.*274G>T (n.*274G>T)
c.366G>T (p.Gln122His)
17g.74920161C>GCA400963937USH1Gc.675G>C (p.Gln225His)
c.*274G>C (n.*274G>C)
c.366G>C (p.Gln122His)
17g.74920161C>TCA502036655USH1Gc.675G>A (p.Gln225=)
c.*274G>A (n.*274G>A)
c.366G>A (p.Gln122=)
 gnomAD v4
17g.74920162T>ACA400963946USH1Gc.674A>T (p.Gln225Leu)
c.*273A>T (n.*273A>T)
c.365A>T (p.Gln122Leu)
 dbSNP gnomAD v2
17g.74920162T>CCA400963949USH1Gc.674A>G (p.Gln225Arg)
c.*273A>G (n.*273A>G)
c.365A>G (p.Gln122Arg)
17g.74920162T>GCA400963953USH1Gc.674A>C (p.Gln225Pro)
c.*273A>C (n.*273A>C)
c.365A>C (p.Gln122Pro)
17g.74920162T=CA2275255472USH1Gc.674A= (p.Gln225=)
c.*273A= (n.*273A=)
c.365A= (p.Gln122=)
17g.74920163G>ACA400963955USH1Gc.673C>T (p.Gln225Ter)
c.*272C>T (n.*272C>T)
c.364C>T (p.Gln122Ter)
 gnomAD v4
17g.74920163G>CCA400963960USH1Gc.673C>G (p.Gln225Glu)
c.*272C>G (n.*272C>G)
c.364C>G (p.Gln122Glu)
17g.74920163G>TCA400963970USH1Gc.673C>A (p.Gln225Lys)
c.*272C>A (n.*272C>A)
c.364C>A (p.Gln122Lys)
 gnomAD v4
17g.74920164C>ACA400963977USH1Gc.672G>T (p.Lys224Asn)
c.*271G>T (n.*271G>T)
c.363G>T (p.Lys121Asn)
 gnomAD v4
17g.74920164C>GCA400963973USH1Gc.672G>C (p.Lys224Asn)
c.*271G>C (n.*271G>C)
c.363G>C (p.Lys121Asn)
17g.74920164C>TCA502036662USH1Gc.672G>A (p.Lys224=)
c.*271G>A (n.*271G>A)
c.363G>A (p.Lys121=)
 gnomAD v4
17g.74920165T>ACA400963980USH1Gc.671A>T (p.Lys224Met)
c.*270A>T (n.*270A>T)
c.362A>T (p.Lys121Met)
17g.74920165T>CCA400963984USH1Gc.671A>G (p.Lys224Arg)
c.*270A>G (n.*270A>G)
c.362A>G (p.Lys121Arg)
 gnomAD v4
17g.74920165T>GCA400963988USH1Gc.671A>C (p.Lys224Thr)
c.*270A>C (n.*270A>C)
c.362A>C (p.Lys121Thr)
17g.74920166T>ACA400963991USH1Gc.670A>T (p.Lys224Ter)
c.*269A>T (n.*269A>T)
c.361A>T (p.Lys121Ter)
17g.74920166T>CCA400963994USH1Gc.670A>G (p.Lys224Glu)
c.*269A>G (n.*269A>G)
c.361A>G (p.Lys121Glu)
17g.74920166T>GCA400963995USH1Gc.670A>C (p.Lys224Gln)
c.*269A>C (n.*269A>C)
c.361A>C (p.Lys121Gln)
17g.74920167delCA2639748101USH1Gc.669del (p.Lys224SerfsTer?)
c.*268del (n.*268del)
c.360del (p.Lys121SerfsTer?)
 gnomAD v4
17g.74920167G>ACA502036667USH1Gc.669C>T (p.Arg223=)
c.*268C>T (n.*268C>T)
c.360C>T (p.Arg120=)
 gnomAD v4
17g.74920167G>CCA502036670USH1Gc.669C>G (p.Arg223=)
c.*268C>G (n.*268C>G)
c.360C>G (p.Arg120=)
 gnomAD v4
17g.74920167G>TCA502036668USH1Gc.669C>A (p.Arg223=)
c.*268C>A (n.*268C>A)
c.360C>A (p.Arg120=)
17g.74920168C>ACA400963999USH1Gc.668G>T (p.Arg223Leu)
c.*267G>T (n.*267G>T)
c.359G>T (p.Arg120Leu)
17g.74920168C=CA2275255473USH1Gc.668G= (p.Arg223=)
c.*267G= (n.*267G=)
c.359G= (p.Arg120=)
17g.74920168C>GCA400964002USH1Gc.668G>C (p.Arg223Pro)
c.*267G>C (n.*267G>C)
c.359G>C (p.Arg120Pro)
 gnomAD v4
17g.74920168C>TCA8754025USH1Gc.668G>A (p.Arg223His)
c.*267G>A (n.*267G>A)
c.359G>A (p.Arg120His)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920169G>ACA400964008USH1Gc.667C>T (p.Arg223Cys)
c.*266C>T (n.*266C>T)
c.358C>T (p.Arg120Cys)
 dbSNP gnomAD v2 gnomAD v4
17g.74920169G>CCA400964010USH1Gc.667C>G (p.Arg223Gly)
c.*266C>G (n.*266C>G)
c.358C>G (p.Arg120Gly)
17g.74920169G=CA2275255474USH1Gc.667C= (p.Arg223=)
c.*266C= (n.*266C=)
c.358C= (p.Arg120=)
17g.74920169G>TCA400964012USH1Gc.667C>A (p.Arg223Ser)
c.*266C>A (n.*266C>A)
c.358C>A (p.Arg120Ser)
 gnomAD v4
17g.74920170C>ACA502036676USH1Gc.666G>T (p.Arg222=)
c.*265G>T (n.*265G>T)
c.357G>T (p.Arg119=)
17g.74920170C>GCA502036677USH1Gc.666G>C (p.Arg222=)
c.*265G>C (n.*265G>C)
c.357G>C (p.Arg119=)
17g.74920170C>TCA502036678USH1Gc.666G>A (p.Arg222=)
c.*265G>A (n.*265G>A)
c.357G>A (p.Arg119=)
 gnomAD v4
17g.74920171delCA2573154822USH1Gc.666del (p.Arg223AlafsTer?)
c.*265del (n.*265del)
c.357del (p.Arg120AlafsTer?)
 ClinVar dbSNP
17g.74920171C>ACA400964017USH1Gc.665G>T (p.Arg222Leu)
c.*264G>T (n.*264G>T)
c.356G>T (p.Arg119Leu)
 gnomAD v4
17g.74920171C=CA2275255475USH1Gc.665G= (p.Arg222=)
c.*264G= (n.*264G=)
c.356G= (p.Arg119=)
17g.74920171C>GCA400964020USH1Gc.665G>C (p.Arg222Pro)
c.*264G>C (n.*264G>C)
c.356G>C (p.Arg119Pro)
 dbSNP gnomAD v3 gnomAD v4
17g.74920171C>TCA293984385USH1Gc.665G>A (p.Arg222Gln)
c.*264G>A (n.*264G>A)
c.356G>A (p.Arg119Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.74920172G>ACA400964030USH1Gc.664C>T (p.Arg222Trp)
c.*263C>T (n.*263C>T)
c.355C>T (p.Arg119Trp)
 gnomAD v4
17g.74920172G>CCA400964025USH1Gc.664C>G (p.Arg222Gly)
c.*263C>G (n.*263C>G)
c.355C>G (p.Arg119Gly)
 gnomAD v4
17g.74920172G=CA2275255476USH1Gc.664C= (p.Arg222=)
c.*263C= (n.*263C=)
c.355C= (p.Arg119=)
17g.74920172G>TCA502036682USH1Gc.664C>A (p.Arg222=)
c.*263C>A (n.*263C>A)
c.355C>A (p.Arg119=)
 dbSNP gnomAD v4
17g.74920173C>ACA400964034USH1Gc.663G>T (p.Glu221Asp)
c.*262G>T (n.*262G>T)
c.354G>T (p.Glu118Asp)
17g.74920173C>GCA400964035USH1Gc.663G>C (p.Glu221Asp)
c.*262G>C (n.*262G>C)
c.354G>C (p.Glu118Asp)
17g.74920173C>TCA502036683USH1Gc.663G>A (p.Glu221=)
c.*262G>A (n.*262G>A)
c.354G>A (p.Glu118=)
 gnomAD v4
17g.74920174T>ACA400964037USH1Gc.662A>T (p.Glu221Val)
c.*261A>T (n.*261A>T)
c.353A>T (p.Glu118Val)
17g.74920174T>CCA400964039USH1Gc.662A>G (p.Glu221Gly)
c.*261A>G (n.*261A>G)
c.353A>G (p.Glu118Gly)
 gnomAD v4
17g.74920174T>GCA400964043USH1Gc.662A>C (p.Glu221Ala)
c.*261A>C (n.*261A>C)
c.353A>C (p.Glu118Ala)
17g.74920175C>ACA400964056USH1Gc.661G>T (p.Glu221Ter)
c.*260G>T (n.*260G>T)
c.352G>T (p.Glu118Ter)
17g.74920175C=CA2275255477USH1Gc.661G= (p.Glu221=)
c.*260G= (n.*260G=)
c.352G= (p.Glu118=)
17g.74920175C>GCA400964050USH1Gc.661G>C (p.Glu221Gln)
c.*260G>C (n.*260G>C)
c.352G>C (p.Glu118Gln)
 dbSNP
17g.74920175C>TCA400964052USH1Gc.661G>A (p.Glu221Lys)
c.*260G>A (n.*260G>A)
c.352G>A (p.Glu118Lys)
17g.74920176C>ACA502036690USH1Gc.660G>T (p.Leu220=)
c.*259G>T (n.*259G>T)
c.351G>T (p.Leu117=)
17g.74920176C=CA2275255478USH1Gc.660G= (p.Leu220=)
c.*259G= (n.*259G=)
c.351G= (p.Leu117=)
17g.74920176C>GCA502036691USH1Gc.660G>C (p.Leu220=)
c.*259G>C (n.*259G>C)
c.351G>C (p.Leu117=)
17g.74920176C>TCA502036692USH1Gc.660G>A (p.Leu220=)
c.*259G>A (n.*259G>A)
c.351G>A (p.Leu117=)
 dbSNP gnomAD v2 gnomAD v4
17g.74920177A>CCA400964060USH1Gc.659T>G (p.Leu220Arg)
c.*258T>G (n.*258T>G)
c.350T>G (p.Leu117Arg)
17g.74920177A>GCA400964063USH1Gc.659T>C (p.Leu220Pro)
c.*258T>C (n.*258T>C)
c.350T>C (p.Leu117Pro)
 gnomAD v4
17g.74920177A>TCA400964066USH1Gc.659T>A (p.Leu220Gln)
c.*258T>A (n.*258T>A)
c.350T>A (p.Leu117Gln)
17g.74920178G>ACA502036697USH1Gc.658C>T (p.Leu220=)
c.*257C>T (n.*257C>T)
c.349C>T (p.Leu117=)
 gnomAD v4
17g.74920178G>CCA400964068USH1Gc.658C>G (p.Leu220Val)
c.*257C>G (n.*257C>G)
c.349C>G (p.Leu117Val)
17g.74920178G>TCA400964069USH1Gc.658C>A (p.Leu220Met)
c.*257C>A (n.*257C>A)
c.349C>A (p.Leu117Met)
 gnomAD v4
17g.74920178_74920181delinsGCTTCA2275255479USH1Gc.655_658delinsAAGC (p.Lys219=)
c.*254_*257delinsAAGC (n.*254_*257delinsAAGC)
c.346_349delinsAAGC (p.Lys116=)
17g.74920179C>ACA400964073USH1Gc.657G>T (p.Lys219Asn)
c.*256G>T (n.*256G>T)
c.348G>T (p.Lys116Asn)
 gnomAD v2 gnomAD v3 gnomAD v4
17g.74920179C>GCA400964076USH1Gc.657G>C (p.Lys219Asn)
c.*256G>C (n.*256G>C)
c.348G>C (p.Lys116Asn)
17g.74920179C>TCA502036698USH1Gc.657G>A (p.Lys219=)
c.*256G>A (n.*256G>A)
c.348G>A (p.Lys116=)
17g.74920184_74920186delCA8754026USH1Gc.655_657del (p.Lys219del)
c.*254_*256del (n.*254_*256del)
c.346_348del (p.Lys116del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920180T>ACA400964081USH1Gc.656A>T (p.Lys219Met)
c.*255A>T (n.*255A>T)
c.347A>T (p.Lys116Met)
17g.74920180T>CCA400964083USH1Gc.656A>G (p.Lys219Arg)
c.*255A>G (n.*255A>G)
c.347A>G (p.Lys116Arg)
17g.74920180T>GCA400964087USH1Gc.656A>C (p.Lys219Thr)
c.*255A>C (n.*255A>C)
c.347A>C (p.Lys116Thr)
 dbSNP
17g.74920180T=CA2275255480USH1Gc.656A= (p.Lys219=)
c.*255A= (n.*255A=)
c.347A= (p.Lys116=)
17g.74920181T>ACA400964090USH1Gc.655A>T (p.Lys219Ter)
c.*254A>T (n.*254A>T)
c.346A>T (p.Lys116Ter)
 dbSNP
17g.74920181T>CCA400964093USH1Gc.655A>G (p.Lys219Glu)
c.*254A>G (n.*254A>G)
c.346A>G (p.Lys116Glu)
17g.74920181T>GCA8754027USH1Gc.655A>C (p.Lys219Gln)
c.*254A>C (n.*254A>C)
c.346A>C (p.Lys116Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920181T=CA2275255481USH1Gc.655A= (p.Lys219=)
c.*254A= (n.*254A=)
c.346A= (p.Lys116=)
17g.74920182C>ACA8754028USH1Gc.654G>T (p.Lys218Asn)
c.*253G>T (n.*253G>T)
c.345G>T (p.Lys115Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920182C=CA2275255482USH1Gc.654G= (p.Lys218=)
c.*253G= (n.*253G=)
c.345G= (p.Lys115=)
17g.74920182C>GCA400964100USH1Gc.654G>C (p.Lys218Asn)
c.*253G>C (n.*253G>C)
c.345G>C (p.Lys115Asn)
17g.74920182C>TCA502036703USH1Gc.654G>A (p.Lys218=)
c.*253G>A (n.*253G>A)
c.345G>A (p.Lys115=)
17g.74920183T>ACA400964103USH1Gc.653A>T (p.Lys218Met)
c.*252A>T (n.*252A>T)
c.344A>T (p.Lys115Met)
17g.74920183T>CCA400964105USH1Gc.653A>G (p.Lys218Arg)
c.*252A>G (n.*252A>G)
c.344A>G (p.Lys115Arg)
17g.74920183T>GCA400964108USH1Gc.653A>C (p.Lys218Thr)
c.*252A>C (n.*252A>C)
c.344A>C (p.Lys115Thr)
17g.74920184T>ACA400964116USH1Gc.652A>T (p.Lys218Ter)
c.*251A>T (n.*251A>T)
c.343A>T (p.Lys115Ter)
17g.74920184T>CCA400964113USH1Gc.652A>G (p.Lys218Glu)
c.*251A>G (n.*251A>G)
c.343A>G (p.Lys115Glu)
17g.74920184T>GCA400964111USH1Gc.652A>C (p.Lys218Gln)
c.*251A>C (n.*251A>C)
c.343A>C (p.Lys115Gln)
17g.74920185C>ACA400964119USH1Gc.651G>T (p.Gln217His)
c.*250G>T (n.*250G>T)
c.342G>T (p.Gln114His)
 gnomAD v4
17g.74920185C=CA2275255483USH1Gc.651G= (p.Gln217=)
c.*250G= (n.*250G=)
c.342G= (p.Gln114=)
17g.74920185C>GCA400964121USH1Gc.651G>C (p.Gln217His)
c.*250G>C (n.*250G>C)
c.342G>C (p.Gln114His)
17g.74920185C>TCA502036708USH1Gc.651G>A (p.Gln217=)
c.*250G>A (n.*250G>A)
c.342G>A (p.Gln114=)
 dbSNP gnomAD v2 gnomAD v4
17g.74920186T>ACA400964123USH1Gc.650A>T (p.Gln217Leu)
c.*249A>T (n.*249A>T)
c.341A>T (p.Gln114Leu)
17g.74920186T>CCA8754029USH1Gc.650A>G (p.Gln217Arg)
c.*249A>G (n.*249A>G)
c.341A>G (p.Gln114Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920186T>GCA400964126USH1Gc.650A>C (p.Gln217Pro)
c.*249A>C (n.*249A>C)
c.341A>C (p.Gln114Pro)
 gnomAD v4
17g.74920186T=CA2275255484USH1Gc.650A= (p.Gln217=)
c.*249A= (n.*249A=)
c.341A= (p.Gln114=)
17g.74920187G>ACA400964132USH1Gc.649C>T (p.Gln217Ter)
c.*248C>T (n.*248C>T)
c.340C>T (p.Gln114Ter)
 gnomAD v4
17g.74920187G>CCA400964130USH1Gc.649C>G (p.Gln217Glu)
c.*248C>G (n.*248C>G)
c.340C>G (p.Gln114Glu)
17g.74920187G=CA2275255485USH1Gc.649C= (p.Gln217=)
c.*248C= (n.*248C=)
c.340C= (p.Gln114=)
17g.74920187G>TCA8754030USH1Gc.649C>A (p.Gln217Lys)
c.*248C>A (n.*248C>A)
c.340C>A (p.Gln114Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920188C>ACA400964135USH1Gc.648G>T (p.Met216Ile)
c.*247G>T (n.*247G>T)
c.339G>T (p.Met113Ile)
 gnomAD v4
17g.74920188C>GCA400964138USH1Gc.648G>C (p.Met216Ile)
c.*247G>C (n.*247G>C)
c.339G>C (p.Met113Ile)
17g.74920188C>TCA400964141USH1Gc.648G>A (p.Met216Ile)
c.*247G>A (n.*247G>A)
c.339G>A (p.Met113Ile)
 gnomAD v4
17g.74920189A=CA2275255486USH1Gc.647T= (p.Met216=)
c.*246T= (n.*246T=)
c.338T= (p.Met113=)
17g.74920189A>CCA400964143USH1Gc.647T>G (p.Met216Arg)
c.*246T>G (n.*246T>G)
c.338T>G (p.Met113Arg)
17g.74920189A>GCA8754031USH1Gc.647T>C (p.Met216Thr)
c.*246T>C (n.*246T>C)
c.338T>C (p.Met113Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920189A>TCA400964147USH1Gc.647T>A (p.Met216Lys)
c.*246T>A (n.*246T>A)
c.338T>A (p.Met113Lys)
17g.74920190T>ACA400964148USH1Gc.646A>T (p.Met216Leu)
c.*245A>T (n.*245A>T)
c.337A>T (p.Met113Leu)
17g.74920190T>CCA400964150USH1Gc.646A>G (p.Met216Val)
c.*245A>G (n.*245A>G)
c.337A>G (p.Met113Val)
 dbSNP
17g.74920190T>GCA400964149USH1Gc.646A>C (p.Met216Leu)
c.*245A>C (n.*245A>C)
c.337A>C (p.Met113Leu)
17g.74920190T=CA2275255487USH1Gc.646A= (p.Met216=)
c.*245A= (n.*245A=)
c.337A= (p.Met113=)
17g.74920191C>ACA400964152USH1Gc.645G>T (p.Lys215Asn)
c.*244G>T (n.*244G>T)
c.336G>T (p.Lys112Asn)
 gnomAD v4
17g.74920191C>GCA400964154USH1Gc.645G>C (p.Lys215Asn)
c.*244G>C (n.*244G>C)
c.336G>C (p.Lys112Asn)
17g.74920191C>TCA502036719USH1Gc.645G>A (p.Lys215=)
c.*244G>A (n.*244G>A)
c.336G>A (p.Lys112=)
17g.74920191_74920192delinsCTCA2275255488USH1Gc.644_645delinsAG (p.Lys215=)
c.*243_*244delinsAG (n.*243_*244delinsAG)
c.335_336delinsAG (p.Lys112=)
17g.74920192T>ACA400964156USH1Gc.644A>T (p.Lys215Met)
c.*243A>T (n.*243A>T)
c.335A>T (p.Lys112Met)
17g.74920192T>CCA400964159USH1Gc.644A>G (p.Lys215Arg)
c.*243A>G (n.*243A>G)
c.335A>G (p.Lys112Arg)
17g.74920192T>GCA400964162USH1Gc.644A>C (p.Lys215Thr)
c.*243A>C (n.*243A>C)
c.335A>C (p.Lys112Thr)
17g.74920193delCA913190613USH1Gc.644del (p.Lys215ArgfsTer?)
c.*243del (n.*243del)
c.335del (p.Lys112ArgfsTer?)
 ClinVar dbSNP gnomAD v4
17g.74920193T>ACA400964167USH1Gc.643A>T (p.Lys215Ter)
c.*242A>T (n.*242A>T)
c.334A>T (p.Lys112Ter)
17g.74920193T>CCA400964180USH1Gc.643A>G (p.Lys215Glu)
c.*242A>G (n.*242A>G)
c.334A>G (p.Lys112Glu)
 gnomAD v4
17g.74920193T>GCA400964191USH1Gc.643A>C (p.Lys215Gln)
c.*242A>C (n.*242A>C)
c.334A>C (p.Lys112Gln)
17g.74920194G>ACA502036728USH1Gc.642C>T (p.Thr214=)
c.*241C>T (n.*241C>T)
c.333C>T (p.Thr111=)
17g.74920194G>CCA502036729USH1Gc.642C>G (p.Thr214=)
c.*241C>G (n.*241C>G)
c.333C>G (p.Thr111=)
17g.74920194G>TCA502036730USH1Gc.642C>A (p.Thr214=)
c.*241C>A (n.*241C>A)
c.333C>A (p.Thr111=)
17g.74920195G>ACA400964195USH1Gc.641C>T (p.Thr214Ile)
c.*240C>T (n.*240C>T)
c.332C>T (p.Thr111Ile)
17g.74920195G>CCA400964197USH1Gc.641C>G (p.Thr214Ser)
c.*240C>G (n.*240C>G)
c.332C>G (p.Thr111Ser)
 gnomAD v4
17g.74920195G>TCA400964199USH1Gc.641C>A (p.Thr214Asn)
c.*240C>A (n.*240C>A)
c.332C>A (p.Thr111Asn)
 gnomAD v4
17g.74920196T>ACA400964208USH1Gc.640A>T (p.Thr214Ser)
c.*239A>T (n.*239A>T)
c.331A>T (p.Thr111Ser)
17g.74920196T>CCA400964206USH1Gc.640A>G (p.Thr214Ala)
c.*239A>G (n.*239A>G)
c.331A>G (p.Thr111Ala)
 gnomAD v4 COSMIC
17g.74920196T>GCA400964203USH1Gc.640A>C (p.Thr214Pro)
c.*239A>C (n.*239A>C)
c.331A>C (p.Thr111Pro)
17g.74920197C>ACA400964210USH1Gc.639G>T (p.Lys213Asn)
c.*238G>T (n.*238G>T)
c.330G>T (p.Lys110Asn)
 gnomAD v4
17g.74920197C>GCA400964213USH1Gc.639G>C (p.Lys213Asn)
c.*238G>C (n.*238G>C)
c.330G>C (p.Lys110Asn)
17g.74920197C>TCA502036738USH1Gc.639G>A (p.Lys213=)
c.*238G>A (n.*238G>A)
c.330G>A (p.Lys110=)
 ClinVar gnomAD v4
17g.74920198T>ACA400964216USH1Gc.638A>T (p.Lys213Met)
c.*237A>T (n.*237A>T)
c.329A>T (p.Lys110Met)
17g.74920198T>CCA400964221USH1Gc.638A>G (p.Lys213Arg)
c.*237A>G (n.*237A>G)
c.329A>G (p.Lys110Arg)
17g.74920198T>GCA400964227USH1Gc.638A>C (p.Lys213Thr)
c.*237A>C (n.*237A>C)
c.329A>C (p.Lys110Thr)
17g.74920199T>ACA400964230USH1Gc.637A>T (p.Lys213Ter)
c.*236A>T (n.*236A>T)
c.328A>T (p.Lys110Ter)
17g.74920199T>CCA400964232USH1Gc.637A>G (p.Lys213Glu)
c.*236A>G (n.*236A>G)
c.328A>G (p.Lys110Glu)
 gnomAD v4
17g.74920199T>GCA400964233USH1Gc.637A>C (p.Lys213Gln)
c.*236A>C (n.*236A>C)
c.328A>C (p.Lys110Gln)
17g.74920200G>ACA502036750USH1Gc.636C>T (p.Gly212=)
c.*235C>T (n.*235C>T)
c.327C>T (p.Gly109=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.74920200G>CCA502036753USH1Gc.636C>G (p.Gly212=)
c.*235C>G (n.*235C>G)
c.327C>G (p.Gly109=)
17g.74920200G=CA2275255489USH1Gc.636C= (p.Gly212=)
c.*235C= (n.*235C=)
c.327C= (p.Gly109=)
17g.74920200G>TCA502036751USH1Gc.636C>A (p.Gly212=)
c.*235C>A (n.*235C>A)
c.327C>A (p.Gly109=)
 dbSNP gnomAD v3 gnomAD v4
17g.74920201C>ACA400964238USH1Gc.635G>T (p.Gly212Val)
c.*234G>T (n.*234G>T)
c.326G>T (p.Gly109Val)
 gnomAD v4
17g.74920201C=CA2275255490USH1Gc.635G= (p.Gly212=)
c.*234G= (n.*234G=)
c.326G= (p.Gly109=)
17g.74920201C>GCA8754033USH1Gc.635G>C (p.Gly212Ala)
c.*234G>C (n.*234G>C)
c.326G>C (p.Gly109Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920201C>TCA400964236USH1Gc.635G>A (p.Gly212Asp)
c.*234G>A (n.*234G>A)
c.326G>A (p.Gly109Asp)
 dbSNP gnomAD v3 gnomAD v4
17g.74920204dupCA8754032USH1Gc.635dup (p.Lys213GlnfsTer?)
c.*234dup (n.*234dup)
c.326dup (p.Lys110GlnfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920202C>ACA400964241USH1Gc.634G>T (p.Gly212Cys)
c.*233G>T (n.*233G>T)
c.325G>T (p.Gly109Cys)
 gnomAD v4
17g.74920202C>GCA400964242USH1Gc.634G>C (p.Gly212Arg)
c.*233G>C (n.*233G>C)
c.325G>C (p.Gly109Arg)
17g.74920202C>TCA400964244USH1Gc.634G>A (p.Gly212Ser)
c.*233G>A (n.*233G>A)
c.325G>A (p.Gly109Ser)
17g.74920203_74920204insGCCCA2576121643USH1Gc.634_635insCGG (p.Arg211_Gly212insAla)
c.*233_*234insCGG (n.*233_*234insCGG)
c.325_326insCGG (p.Arg108_Gly109insAla)
17g.74920203C>ACA400964246USH1Gc.633G>T (p.Arg211Ser)
c.*232G>T (n.*232G>T)
c.324G>T (p.Arg108Ser)
17g.74920203C>GCA400964248USH1Gc.633G>C (p.Arg211Ser)
c.*232G>C (n.*232G>C)
c.324G>C (p.Arg108Ser)
17g.74920203C>TCA502036757USH1Gc.633G>A (p.Arg211=)
c.*232G>A (n.*232G>A)
c.324G>A (p.Arg108=)
 gnomAD v4 COSMIC
17g.74920204C>ACA400964250USH1Gc.632G>T (p.Arg211Met)
c.*231G>T (n.*231G>T)
c.323G>T (p.Arg108Met)
17g.74920204C>GCA400964254USH1Gc.632G>C (p.Arg211Thr)
c.*231G>C (n.*231G>C)
c.323G>C (p.Arg108Thr)
17g.74920204C>TCA400964252USH1Gc.632G>A (p.Arg211Lys)
c.*231G>A (n.*231G>A)
c.323G>A (p.Arg108Lys)
17g.74920205T>ACA400964256USH1Gc.631A>T (p.Arg211Trp)
c.*230A>T (n.*230A>T)
c.322A>T (p.Arg108Trp)
17g.74920205T>CCA400964257USH1Gc.631A>G (p.Arg211Gly)
c.*230A>G (n.*230A>G)
c.322A>G (p.Arg108Gly)
17g.74920205T>GCA502036767USH1Gc.631A>C (p.Arg211=)
c.*230A>C (n.*230A>C)
c.322A>C (p.Arg108=)
17g.74920206G>ACA502036768USH1Gc.630C>T (p.Ala210=)
c.*229C>T (n.*229C>T)
c.321C>T (p.Ala107=)
17g.74920206G>CCA502036769USH1Gc.630C>G (p.Ala210=)
c.*229C>G (n.*229C>G)
c.321C>G (p.Ala107=)
17g.74920206G>TCA502036770USH1Gc.630C>A (p.Ala210=)
c.*229C>A (n.*229C>A)
c.321C>A (p.Ala107=)
 gnomAD v4
17g.74920207G>ACA400964260USH1Gc.629C>T (p.Ala210Val)
c.*228C>T (n.*228C>T)
c.320C>T (p.Ala107Val)
 gnomAD v4
17g.74920207G>CCA400964262USH1Gc.629C>G (p.Ala210Gly)
c.*228C>G (n.*228C>G)
c.320C>G (p.Ala107Gly)
17g.74920207G=CA2275255491USH1Gc.629C= (p.Ala210=)
c.*228C= (n.*228C=)
c.320C= (p.Ala107=)
17g.74920207G>TCA400964264USH1Gc.629C>A (p.Ala210Asp)
c.*228C>A (n.*228C>A)
c.320C>A (p.Ala107Asp)
 dbSNP gnomAD v3 gnomAD v4
17g.74920208C>ACA400964266USH1Gc.628G>T (p.Ala210Ser)
c.*227G>T (n.*227G>T)
c.319G>T (p.Ala107Ser)
 gnomAD v4
17g.74920208C=CA2275255492USH1Gc.628G= (p.Ala210=)
c.*227G= (n.*227G=)
c.319G= (p.Ala107=)
17g.74920208C>GCA400964268USH1Gc.628G>C (p.Ala210Pro)
c.*227G>C (n.*227G>C)
c.319G>C (p.Ala107Pro)
17g.74920208C>TCA400964269USH1Gc.628G>A (p.Ala210Thr)
c.*227G>A (n.*227G>A)
c.319G>A (p.Ala107Thr)
 dbSNP gnomAD v4
17g.74920209C>ACA502036778USH1Gc.627G>T (p.Thr209=)
c.*226G>T (n.*226G>T)
c.318G>T (p.Thr106=)
 dbSNP gnomAD v2 gnomAD v4
17g.74920209C=CA2275255493USH1Gc.627G= (p.Thr209=)
c.*226G= (n.*226G=)
c.318G= (p.Thr106=)
17g.74920209C>GCA502036781USH1Gc.627G>C (p.Thr209=)
c.*226G>C (n.*226G>C)
c.318G>C (p.Thr106=)
 gnomAD v4
17g.74920209C>TCA8754034USH1Gc.627G>A (p.Thr209=)
c.*226G>A (n.*226G>A)
c.318G>A (p.Thr106=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920210G>ACA293984414USH1Gc.626C>T (p.Thr209Met)
c.*225C>T (n.*225C>T)
c.317C>T (p.Thr106Met)
 dbSNP gnomAD v3 gnomAD v4
17g.74920210G>CCA400964273USH1Gc.626C>G (p.Thr209Arg)
c.*225C>G (n.*225C>G)
c.317C>G (p.Thr106Arg)
17g.74920210G=CA2275255494USH1Gc.626C= (p.Thr209=)
c.*225C= (n.*225C=)
c.317C= (p.Thr106=)
17g.74920210G>TCA400964275USH1Gc.626C>A (p.Thr209Lys)
c.*225C>A (n.*225C>A)
c.317C>A (p.Thr106Lys)
 gnomAD v4
17g.74920211T>ACA400964278USH1Gc.625A>T (p.Thr209Ser)
c.*224A>T (n.*224A>T)
c.316A>T (p.Thr106Ser)
17g.74920211T>CCA400964282USH1Gc.625A>G (p.Thr209Ala)
c.*224A>G (n.*224A>G)
c.316A>G (p.Thr106Ala)
 gnomAD v4
17g.74920211T>GCA400964279USH1Gc.625A>C (p.Thr209Pro)
c.*224A>C (n.*224A>C)
c.316A>C (p.Thr106Pro)
17g.74920212G>ACA502036786USH1Gc.624C>T (p.Gly208=)
c.*223C>T (n.*223C>T)
c.315C>T (p.Gly105=)
17g.74920212G>CCA502036787USH1Gc.624C>G (p.Gly208=)
c.*223C>G (n.*223C>G)
c.315C>G (p.Gly105=)
17g.74920212G>TCA502036789USH1Gc.624C>A (p.Gly208=)
c.*223C>A (n.*223C>A)
c.315C>A (p.Gly105=)
 gnomAD v4
17g.74920213C>ACA400964283USH1Gc.623G>T (p.Gly208Val)
c.*222G>T (n.*222G>T)
c.314G>T (p.Gly105Val)
17g.74920213C>GCA400964285USH1Gc.623G>C (p.Gly208Ala)
c.*222G>C (n.*222G>C)
c.314G>C (p.Gly105Ala)
17g.74920213C>TCA400964287USH1Gc.623G>A (p.Gly208Asp)
c.*222G>A (n.*222G>A)
c.314G>A (p.Gly105Asp)
 gnomAD v4
17g.74920214C>ACA400964289USH1Gc.622G>T (p.Gly208Cys)
c.*221G>T (n.*221G>T)
c.313G>T (p.Gly105Cys)
 gnomAD v4
17g.74920214C=CA2275255495USH1Gc.622G= (p.Gly208=)
c.*221G= (n.*221G=)
c.313G= (p.Gly105=)
17g.74920214C>GCA400964291USH1Gc.622G>C (p.Gly208Arg)
c.*221G>C (n.*221G>C)
c.313G>C (p.Gly105Arg)
 dbSNP gnomAD v4
17g.74920214C>TCA400964293USH1Gc.622G>A (p.Gly208Ser)
c.*221G>A (n.*221G>A)
c.313G>A (p.Gly105Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.74920215G>ACA502036793USH1Gc.621C>T (p.His207=)
c.*220C>T (n.*220C>T)
c.312C>T (p.His104=)
 gnomAD v4
17g.74920215G>CCA400964295USH1Gc.621C>G (p.His207Gln)
c.*220C>G (n.*220C>G)
c.312C>G (p.His104Gln)
17g.74920215G=CA2275255496USH1Gc.621C= (p.His207=)
c.*220C= (n.*220C=)
c.312C= (p.His104=)
17g.74920215G>TCA293984415USH1Gc.621C>A (p.His207Gln)
c.*220C>A (n.*220C>A)
c.312C>A (p.His104Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74920216T>ACA400964299USH1Gc.620A>T (p.His207Leu)
c.*219A>T (n.*219A>T)
c.311A>T (p.His104Leu)
17g.74920216T>CCA400964300USH1Gc.620A>G (p.His207Arg)
c.*219A>G (n.*219A>G)
c.311A>G (p.His104Arg)
17g.74920216T>GCA400964303USH1Gc.620A>C (p.His207Pro)
c.*219A>C (n.*219A>C)
c.311A>C (p.His104Pro)
17g.74920217G>ACA400964309USH1Gc.619C>T (p.His207Tyr)
c.*218C>T (n.*218C>T)
c.310C>T (p.His104Tyr)
 gnomAD v4
17g.74920217G>CCA400964307USH1Gc.619C>G (p.His207Asp)
c.*218C>G (n.*218C>G)
c.310C>G (p.His104Asp)
17g.74920217G>TCA400964305USH1Gc.619C>A (p.His207Asn)
c.*218C>A (n.*218C>A)
c.310C>A (p.His104Asn)
 COSMIC
17g.74920218_74920222dupCA2576121644USH1Gc.615_619dup (p.His207ArgfsTer?)
c.*214_*218dup (n.*214_*218dup)
c.306_310dup (p.His104ArgfsTer?)
17g.74920218C>ACA502036807USH1Gc.618G>T (p.Leu206=)
c.*217G>T (n.*217G>T)
c.309G>T (p.Leu103=)
17g.74920218C=CA2275255497USH1Gc.618G= (p.Leu206=)
c.*217G= (n.*217G=)
c.309G= (p.Leu103=)
17g.74920218C>GCA502036806USH1Gc.618G>C (p.Leu206=)
c.*217G>C (n.*217G>C)
c.309G>C (p.Leu103=)
 gnomAD v4
17g.74920218C>TCA8754035USH1Gc.618G>A (p.Leu206=)
c.*217G>A (n.*217G>A)
c.309G>A (p.Leu103=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920219A>CCA400964313USH1Gc.617T>G (p.Leu206Arg)
c.*216T>G (n.*216T>G)
c.308T>G (p.Leu103Arg)
17g.74920219A>GCA400964314USH1Gc.617T>C (p.Leu206Pro)
c.*216T>C (n.*216T>C)
c.308T>C (p.Leu103Pro)
17g.74920219A>TCA400964316USH1Gc.617T>A (p.Leu206Gln)
c.*216T>A (n.*216T>A)
c.308T>A (p.Leu103Gln)
17g.74920220G>ACA502036810USH1Gc.616C>T (p.Leu206=)
c.*215C>T (n.*215C>T)
c.307C>T (p.Leu103=)
 dbSNP gnomAD v4
17g.74920220G>CCA400964319USH1Gc.616C>G (p.Leu206Val)
c.*215C>G (n.*215C>G)
c.307C>G (p.Leu103Val)
17g.74920220G=CA2275255498USH1Gc.616C= (p.Leu206=)
c.*215C= (n.*215C=)
c.307C= (p.Leu103=)
17g.74920220G>TCA400964320USH1Gc.616C>A (p.Leu206Met)
c.*215C>A (n.*215C>A)
c.307C>A (p.Leu103Met)
 gnomAD v4
17g.74920221C>ACA502036812USH1Gc.615G>T (p.Thr205=)
c.*214G>T (n.*214G>T)
c.306G>T (p.Thr102=)
 gnomAD v4
17g.74920221C>GCA502036815USH1Gc.615G>C (p.Thr205=)
c.*214G>C (n.*214G>C)
c.306G>C (p.Thr102=)
17g.74920221C>TCA502036818USH1Gc.615G>A (p.Thr205=)
c.*214G>A (n.*214G>A)
c.306G>A (p.Thr102=)
 gnomAD v4
17g.74920222G>ACA400964322USH1Gc.614C>T (p.Thr205Met)
c.*213C>T (n.*213C>T)
c.305C>T (p.Thr102Met)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.74920222G>CCA400964323USH1Gc.614C>G (p.Thr205Arg)
c.*213C>G (n.*213C>G)
c.305C>G (p.Thr102Arg)
17g.74920222G=CA2275255499USH1Gc.614C= (p.Thr205=)
c.*213C= (n.*213C=)
c.305C= (p.Thr102=)
17g.74920222G>TCA400964325USH1Gc.614C>A (p.Thr205Lys)
c.*213C>A (n.*213C>A)
c.305C>A (p.Thr102Lys)
 gnomAD v4
17g.74920223T>ACA400964328USH1Gc.613A>T (p.Thr205Ser)
c.*212A>T (n.*212A>T)
c.304A>T (p.Thr102Ser)
17g.74920223T>CCA400964330USH1Gc.613A>G (p.Thr205Ala)
c.*212A>G (n.*212A>G)
c.304A>G (p.Thr102Ala)
17g.74920223T>GCA400964331USH1Gc.613A>C (p.Thr205Pro)
c.*212A>C (n.*212A>C)
c.304A>C (p.Thr102Pro)
17g.74920224G>ACA502036823USH1Gc.612C>T (p.Ala204=)
c.*211C>T (n.*211C>T)
c.303C>T (p.Ala101=)
17g.74920224G>CCA502036825USH1Gc.612C>G (p.Ala204=)
c.*211C>G (n.*211C>G)
c.303C>G (p.Ala101=)
17g.74920224G>TCA502036826USH1Gc.612C>A (p.Ala204=)
c.*211C>A (n.*211C>A)
c.303C>A (p.Ala101=)
 gnomAD v4
17g.74920225G>ACA400964339USH1Gc.611C>T (p.Ala204Val)
c.*210C>T (n.*210C>T)
c.302C>T (p.Ala101Val)
 dbSNP gnomAD v4
17g.74920225G>CCA400964336USH1Gc.611C>G (p.Ala204Gly)
c.*210C>G (n.*210C>G)
c.302C>G (p.Ala101Gly)
 gnomAD v4
17g.74920225G=CA2275255500USH1Gc.611C= (p.Ala204=)
c.*210C= (n.*210C=)
c.302C= (p.Ala101=)
17g.74920225G>TCA400964334USH1Gc.611C>A (p.Ala204Asp)
c.*210C>A (n.*210C>A)
c.302C>A (p.Ala101Asp)
 gnomAD v4
17g.74920226C>ACA400964341USH1Gc.610G>T (p.Ala204Ser)
c.*209G>T (n.*209G>T)
c.301G>T (p.Ala101Ser)
 gnomAD v4
17g.74920226C=CA2275255501USH1Gc.610G= (p.Ala204=)
c.*209G= (n.*209G=)
c.301G= (p.Ala101=)
17g.74920226C>GCA400964344USH1Gc.610G>C (p.Ala204Pro)
c.*209G>C (n.*209G>C)
c.301G>C (p.Ala101Pro)
17g.74920226C>TCA400964342USH1Gc.610G>A (p.Ala204Thr)
c.*209G>A (n.*209G>A)
c.301G>A (p.Ala101Thr)
 dbSNP gnomAD v2 gnomAD v4
17g.74920227C>ACA400964347USH1Gc.609G>T (p.Gln203His)
c.*208G>T (n.*208G>T)
c.300G>T (p.Gln100His)
17g.74920227C>GCA400964348USH1Gc.609G>C (p.Gln203His)
c.*208G>C (n.*208G>C)
c.300G>C (p.Gln100His)
17g.74920227C>TCA502036833USH1Gc.609G>A (p.Gln203=)
c.*208G>A (n.*208G>A)
c.300G>A (p.Gln100=)
17g.74920228T>ACA400964349USH1Gc.608A>T (p.Gln203Leu)
c.*207A>T (n.*207A>T)
c.299A>T (p.Gln100Leu)
17g.74920228T>CCA400964351USH1Gc.608A>G (p.Gln203Arg)
c.*207A>G (n.*207A>G)
c.299A>G (p.Gln100Arg)
17g.74920228T>GCA400964353USH1Gc.608A>C (p.Gln203Pro)
c.*207A>C (n.*207A>C)
c.299A>C (p.Gln100Pro)
17g.74920229G>ACA400964355USH1Gc.607C>T (p.Gln203Ter)
c.*206C>T (n.*206C>T)
c.298C>T (p.Gln100Ter)
 ClinVar
17g.74920229G>CCA184503USH1Gc.607C>G (p.Gln203Glu)
c.*206C>G (n.*206C>G)
c.298C>G (p.Gln100Glu)
 ClinVar dbSNP
17g.74920229G=CA2275255502USH1Gc.607C= (p.Gln203=)
c.*206C= (n.*206C=)
c.298C= (p.Gln100=)
17g.74920229G>TCA400964358USH1Gc.607C>A (p.Gln203Lys)
c.*206C>A (n.*206C>A)
c.298C>A (p.Gln100Lys)
17g.74920230A>CCA502036841USH1Gc.606T>G (p.Ser202=)
c.*205T>G (n.*205T>G)
c.297T>G (p.Ser99=)
17g.74920230A>GCA502036845USH1Gc.606T>C (p.Ser202=)
c.*205T>C (n.*205T>C)
c.297T>C (p.Ser99=)
 gnomAD v4
17g.74920230A>TCA502036846USH1Gc.606T>A (p.Ser202=)
c.*205T>A (n.*205T>A)
c.297T>A (p.Ser99=)
17g.74920231G>ACA400964360USH1Gc.605C>T (p.Ser202Phe)
c.*204C>T (n.*204C>T)
c.296C>T (p.Ser99Phe)
17g.74920231G>CCA400964362USH1Gc.605C>G (p.Ser202Cys)
c.*204C>G (n.*204C>G)
c.296C>G (p.Ser99Cys)
 gnomAD v4
17g.74920231G>TCA400964363USH1Gc.605C>A (p.Ser202Tyr)
c.*204C>A (n.*204C>A)
c.296C>A (p.Ser99Tyr)
 gnomAD v4
17g.74920232A>CCA400964369USH1Gc.604T>G (p.Ser202Ala)
c.*203T>G (n.*203T>G)
c.295T>G (p.Ser99Ala)
17g.74920232A>GCA400964366USH1Gc.604T>C (p.Ser202Pro)
c.*203T>C (n.*203T>C)
c.295T>C (p.Ser99Pro)
17g.74920232A>TCA400964367USH1Gc.604T>A (p.Ser202Thr)
c.*203T>A (n.*203T>A)
c.295T>A (p.Ser99Thr)
17g.74920233G>ACA502036858USH1Gc.603C>T (p.Tyr201=)
c.*202C>T (n.*202C>T)
c.294C>T (p.Tyr98=)
 dbSNP
17g.74920233G>CCA400964372USH1Gc.603C>G (p.Tyr201Ter)
c.*202C>G (n.*202C>G)
c.294C>G (p.Tyr98Ter)
17g.74920233G=CA2275255503USH1Gc.603C= (p.Tyr201=)
c.*202C= (n.*202C=)
c.294C= (p.Tyr98=)
17g.74920233G>TCA400964373USH1Gc.603C>A (p.Tyr201Ter)
c.*202C>A (n.*202C>A)
c.294C>A (p.Tyr98Ter)
 gnomAD v4
17g.74920234T>ACA400964374USH1Gc.602A>T (p.Tyr201Phe)
c.*201A>T (n.*201A>T)
c.293A>T (p.Tyr98Phe)
17g.74920234T>CCA400964376USH1Gc.602A>G (p.Tyr201Cys)
c.*201A>G (n.*201A>G)
c.293A>G (p.Tyr98Cys)
17g.74920234T>GCA400964377USH1Gc.602A>C (p.Tyr201Ser)
c.*201A>C (n.*201A>C)
c.293A>C (p.Tyr98Ser)
17g.74920235A=CA2275255504USH1Gc.601T= (p.Tyr201=)
c.*200T= (n.*200T=)
c.292T= (p.Tyr98=)
17g.74920235A>CCA400964378USH1Gc.601T>G (p.Tyr201Asp)
c.*200T>G (n.*200T>G)
c.292T>G (p.Tyr98Asp)
17g.74920235A>GCA8754036USH1Gc.601T>C (p.Tyr201His)
c.*200T>C (n.*200T>C)
c.292T>C (p.Tyr98His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920235A>TCA400964381USH1Gc.601T>A (p.Tyr201Asn)
c.*200T>A (n.*200T>A)
c.292T>A (p.Tyr98Asn)
17g.74920236C>ACA502036867USH1Gc.600G>T (p.Pro200=)
c.*199G>T (n.*199G>T)
c.291G>T (p.Pro97=)
17g.74920236C=CA2275255505USH1Gc.600G= (p.Pro200=)
c.*199G= (n.*199G=)
c.291G= (p.Pro97=)
17g.74920236C>GCA502036869USH1Gc.600G>C (p.Pro200=)
c.*199G>C (n.*199G>C)
c.291G>C (p.Pro97=)
17g.74920236C>TCA502036871USH1Gc.600G>A (p.Pro200=)
c.*199G>A (n.*199G>A)
c.291G>A (p.Pro97=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched