Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.20348640_20348738delCA2695222874UMODc.563_661del (p.Glu188_Leu221delinsVal)
c.662_760del (p.Glu221_Leu254delinsVal)
c.710_808del (p.Glu237_Leu270delinsVal)
c.647_745del (p.Glu216_Leu249delinsVal)
n.788_886del
16g.20348714T>ACA394985379UMODc.587A>T (p.Asp196Val)
c.686A>T (p.Asp229Val)
c.734A>T (p.Asp245Val)
c.671A>T (p.Asp224Val)
n.812A>T
16g.20348714T>CCA16609397UMODc.587A>G (p.Asp196Gly)
c.686A>G (p.Asp229Gly)
c.734A>G (p.Asp245Gly)
c.671A>G (p.Asp224Gly)
n.812A>G
 ClinVar dbSNP
16g.20348714T>GCA394985380UMODc.587A>C (p.Asp196Ala)
c.686A>C (p.Asp229Ala)
c.734A>C (p.Asp245Ala)
c.671A>C (p.Asp224Ala)
n.812A>C
16g.20348714T=CA2211942476UMODc.587A= (p.Asp196=)
c.686A= (p.Asp229=)
c.734A= (p.Asp245=)
c.671A= (p.Asp224=)
n.812A=
16g.20348715C>ACA394985386UMODc.586G>T (p.Asp196Tyr)
c.685G>T (p.Asp229Tyr)
c.733G>T (p.Asp245Tyr)
c.670G>T (p.Asp224Tyr)
n.811G>T
16g.20348715C=CA2211942485UMODc.586G= (p.Asp196=)
c.685G= (p.Asp229=)
c.733G= (p.Asp245=)
c.670G= (p.Asp224=)
n.811G=
16g.20348715C>GCA394985381UMODc.586G>C (p.Asp196His)
c.685G>C (p.Asp229His)
c.733G>C (p.Asp245His)
c.670G>C (p.Asp224His)
n.811G>C
16g.20348715C>TCA394985384UMODc.586G>A (p.Asp196Asn)
c.685G>A (p.Asp229Asn)
c.733G>A (p.Asp245Asn)
c.670G>A (p.Asp224Asn)
n.811G>A
 ClinVar dbSNP gnomAD v4
16g.20348715_20348716delinsTACA2695222875UMODc.585_586delinsTA (p.Asp196Asn)
c.684_685delinsTA (p.Asp229Asn)
c.732_733delinsTA (p.Asp245Asn)
c.669_670delinsTA (p.Asp224Asn)
n.810_811delinsTA
16g.20348716G>ACA494096932UMODc.585C>T (p.Cys195=)
c.684C>T (p.Cys228=)
c.732C>T (p.Cys244=)
c.669C>T (p.Cys223=)
n.810C>T
 gnomAD v4
16g.20348716G>CCA394985387UMODc.585C>G (p.Cys195Trp)
c.684C>G (p.Cys228Trp)
c.732C>G (p.Cys244Trp)
c.669C>G (p.Cys223Trp)
n.810C>G
16g.20348716G>TCA394985389UMODc.585C>A (p.Cys195Ter)
c.684C>A (p.Cys228Ter)
c.732C>A (p.Cys244Ter)
c.669C>A (p.Cys223Ter)
n.810C>A
 gnomAD v4
16g.20348717C>ACA394985391UMODc.584G>T (p.Cys195Phe)
c.683G>T (p.Cys228Phe)
c.731G>T (p.Cys244Phe)
c.668G>T (p.Cys223Phe)
n.809G>T
 gnomAD v4
16g.20348717C=CA2211942489UMODc.584G= (p.Cys195=)
c.683G= (p.Cys228=)
c.731G= (p.Cys244=)
c.668G= (p.Cys223=)
n.809G=
16g.20348717C>GCA394985392UMODc.584G>C (p.Cys195Ser)
c.683G>C (p.Cys228Ser)
c.731G>C (p.Cys244Ser)
c.668G>C (p.Cys223Ser)
n.809G>C
 dbSNP
16g.20348717C>TCA394985394UMODc.584G>A (p.Cys195Tyr)
c.683G>A (p.Cys228Tyr)
c.731G>A (p.Cys244Tyr)
c.668G>A (p.Cys223Tyr)
n.809G>A
 gnomAD v4
16g.20348718A>CCA394985395UMODc.583T>G (p.Cys195Gly)
c.682T>G (p.Cys228Gly)
c.730T>G (p.Cys244Gly)
c.667T>G (p.Cys223Gly)
n.808T>G
16g.20348718A>GCA394985396UMODc.583T>C (p.Cys195Arg)
c.682T>C (p.Cys228Arg)
c.730T>C (p.Cys244Arg)
c.667T>C (p.Cys223Arg)
n.808T>C
 gnomAD v4
16g.20348718A>TCA394985398UMODc.583T>A (p.Cys195Ser)
c.682T>A (p.Cys228Ser)
c.730T>A (p.Cys244Ser)
c.667T>A (p.Cys223Ser)
n.808T>A
16g.20348719G>ACA494096940UMODc.582C>T (p.Ala194=)
c.681C>T (p.Ala227=)
c.729C>T (p.Ala243=)
c.666C>T (p.Ala222=)
n.807C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348719G>CCA494096942UMODc.582C>G (p.Ala194=)
c.681C>G (p.Ala227=)
c.729C>G (p.Ala243=)
c.666C>G (p.Ala222=)
n.807C>G
 gnomAD v4
16g.20348719G=CA2211942495UMODc.582C= (p.Ala194=)
c.681C= (p.Ala227=)
c.729C= (p.Ala243=)
c.666C= (p.Ala222=)
n.807C=
16g.20348719G>TCA494096939UMODc.582C>A (p.Ala194=)
c.681C>A (p.Ala227=)
c.729C>A (p.Ala243=)
c.666C>A (p.Ala222=)
n.807C>A
 gnomAD v4
16g.20348720G>ACA394985400UMODc.581C>T (p.Ala194Val)
c.680C>T (p.Ala227Val)
c.728C>T (p.Ala243Val)
c.665C>T (p.Ala222Val)
n.806C>T
 dbSNP gnomAD v3 gnomAD v4
16g.20348720G>CCA394985402UMODc.581C>G (p.Ala194Gly)
c.680C>G (p.Ala227Gly)
c.728C>G (p.Ala243Gly)
c.665C>G (p.Ala222Gly)
n.806C>G
 gnomAD v4
16g.20348720G=CA2211942499UMODc.581C= (p.Ala194=)
c.680C= (p.Ala227=)
c.728C= (p.Ala243=)
c.665C= (p.Ala222=)
n.806C=
16g.20348720G>TCA394985403UMODc.581C>A (p.Ala194Asp)
c.680C>A (p.Ala227Asp)
c.728C>A (p.Ala243Asp)
c.665C>A (p.Ala222Asp)
n.806C>A
 gnomAD v4
16g.20348723_20348748delCA2632115397UMODc.556_581del (p.Ser186LeufsTer?)
c.655_680del (p.Ser219LeufsTer?)
c.703_728del (p.Ser235LeufsTer?)
c.640_665del (p.Ser214LeufsTer?)
n.781_806del
 gnomAD v4
16g.20348721C>ACA394985410UMODc.580G>T (p.Ala194Ser)
c.679G>T (p.Ala227Ser)
c.727G>T (p.Ala243Ser)
c.664G>T (p.Ala222Ser)
n.805G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348721C=CA2211942502UMODc.580G= (p.Ala194=)
c.679G= (p.Ala227=)
c.727G= (p.Ala243=)
c.664G= (p.Ala222=)
n.805G=
16g.20348721C>GCA394985408UMODc.580G>C (p.Ala194Pro)
c.679G>C (p.Ala227Pro)
c.727G>C (p.Ala243Pro)
c.664G>C (p.Ala222Pro)
n.805G>C
16g.20348721C>TCA394985406UMODc.580G>A (p.Ala194Thr)
c.679G>A (p.Ala227Thr)
c.727G>A (p.Ala243Thr)
c.664G>A (p.Ala222Thr)
n.805G>A
 gnomAD v4
16g.20348722G>ACA494096949UMODc.579C>T (p.Tyr193=)
c.678C>T (p.Tyr226=)
c.726C>T (p.Tyr242=)
c.663C>T (p.Tyr221=)
n.804C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348722G>CCA394985411UMODc.579C>G (p.Tyr193Ter)
c.678C>G (p.Tyr226Ter)
c.726C>G (p.Tyr242Ter)
c.663C>G (p.Tyr221Ter)
n.804C>G
 dbSNP
16g.20348722G=CA2211942509UMODc.579C= (p.Tyr193=)
c.678C= (p.Tyr226=)
c.726C= (p.Tyr242=)
c.663C= (p.Tyr221=)
n.804C=
16g.20348722G>TCA394985412UMODc.579C>A (p.Tyr193Ter)
c.678C>A (p.Tyr226Ter)
c.726C>A (p.Tyr242Ter)
c.663C>A (p.Tyr221Ter)
n.804C>A
 gnomAD v4
16g.20348723T>ACA394985413UMODc.578A>T (p.Tyr193Phe)
c.677A>T (p.Tyr226Phe)
c.725A>T (p.Tyr242Phe)
c.662A>T (p.Tyr221Phe)
n.803A>T
16g.20348723T>CCA394985414UMODc.578A>G (p.Tyr193Cys)
c.677A>G (p.Tyr226Cys)
c.725A>G (p.Tyr242Cys)
c.662A>G (p.Tyr221Cys)
n.803A>G
 gnomAD v4
16g.20348723T>GCA394985416UMODc.578A>C (p.Tyr193Ser)
c.677A>C (p.Tyr226Ser)
c.725A>C (p.Tyr242Ser)
c.662A>C (p.Tyr221Ser)
n.803A>C
16g.20348724A=CA2211942514UMODc.577T= (p.Tyr193=)
c.676T= (p.Tyr226=)
c.724T= (p.Tyr242=)
c.661T= (p.Tyr221=)
n.802T=
16g.20348724A>CCA394985417UMODc.577T>G (p.Tyr193Asp)
c.676T>G (p.Tyr226Asp)
c.724T>G (p.Tyr242Asp)
c.661T>G (p.Tyr221Asp)
n.802T>G
16g.20348724A>GCA279299836UMODc.577T>C (p.Tyr193His)
c.676T>C (p.Tyr226His)
c.724T>C (p.Tyr242His)
c.661T>C (p.Tyr221His)
n.802T>C
 dbSNP gnomAD v3 gnomAD v4
16g.20348724A>TCA394985419UMODc.577T>A (p.Tyr193Asn)
c.676T>A (p.Tyr226Asn)
c.724T>A (p.Tyr242Asn)
c.661T>A (p.Tyr221Asn)
n.802T>A
16g.20348725G>ACA494096954UMODc.576C>T (p.Gly192=)
c.675C>T (p.Gly225=)
c.723C>T (p.Gly241=)
c.660C>T (p.Gly220=)
n.801C>T
 dbSNP gnomAD v4
16g.20348725G>CCA494096955UMODc.576C>G (p.Gly192=)
c.675C>G (p.Gly225=)
c.723C>G (p.Gly241=)
c.660C>G (p.Gly220=)
n.801C>G
16g.20348725G=CA2211942515UMODc.576C= (p.Gly192=)
c.675C= (p.Gly225=)
c.723C= (p.Gly241=)
c.660C= (p.Gly220=)
n.801C=
16g.20348725G>TCA494096956UMODc.576C>A (p.Gly192=)
c.675C>A (p.Gly225=)
c.723C>A (p.Gly241=)
c.660C>A (p.Gly220=)
n.801C>A
 gnomAD v4
16g.20348726C>ACA394985420UMODc.575G>T (p.Gly192Val)
c.674G>T (p.Gly225Val)
c.722G>T (p.Gly241Val)
c.659G>T (p.Gly220Val)
n.800G>T
 gnomAD v4
16g.20348726C>GCA394985422UMODc.575G>C (p.Gly192Ala)
c.674G>C (p.Gly225Ala)
c.722G>C (p.Gly241Ala)
c.659G>C (p.Gly220Ala)
n.800G>C
16g.20348726C>TCA394985423UMODc.575G>A (p.Gly192Asp)
c.674G>A (p.Gly225Asp)
c.722G>A (p.Gly241Asp)
c.659G>A (p.Gly220Asp)
n.800G>A
 gnomAD v4
16g.20348727C>ACA394985424UMODc.574G>T (p.Gly192Cys)
c.673G>T (p.Gly225Cys)
c.721G>T (p.Gly241Cys)
c.658G>T (p.Gly220Cys)
n.799G>T
 dbSNP gnomAD v4
16g.20348727C>GCA394985425UMODc.574G>C (p.Gly192Arg)
c.673G>C (p.Gly225Arg)
c.721G>C (p.Gly241Arg)
c.658G>C (p.Gly220Arg)
n.799G>C
16g.20348727C>TCA394985426UMODc.574G>A (p.Gly192Ser)
c.673G>A (p.Gly225Ser)
c.721G>A (p.Gly241Ser)
c.658G>A (p.Gly220Ser)
n.799G>A
 gnomAD v4
16g.20348728C>ACA394985427UMODc.573G>T (p.Glu191Asp)
c.672G>T (p.Glu224Asp)
c.720G>T (p.Glu240Asp)
c.657G>T (p.Glu219Asp)
n.798G>T
 gnomAD v4
16g.20348728C=CA2211942518UMODc.573G= (p.Glu191=)
c.672G= (p.Glu224=)
c.720G= (p.Glu240=)
c.657G= (p.Glu219=)
n.798G=
16g.20348728C>GCA279299842UMODc.573G>C (p.Glu191Asp)
c.672G>C (p.Glu224Asp)
c.720G>C (p.Glu240Asp)
c.657G>C (p.Glu219Asp)
n.798G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348728C>TCA494096966UMODc.573G>A (p.Glu191=)
c.672G>A (p.Glu224=)
c.720G>A (p.Glu240=)
c.657G>A (p.Glu219=)
n.798G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348729T>ACA394985428UMODc.572A>T (p.Glu191Val)
c.671A>T (p.Glu224Val)
c.719A>T (p.Glu240Val)
c.656A>T (p.Glu219Val)
n.797A>T
 gnomAD v4
16g.20348729T>CCA394985429UMODc.572A>G (p.Glu191Gly)
c.671A>G (p.Glu224Gly)
c.719A>G (p.Glu240Gly)
c.656A>G (p.Glu219Gly)
n.797A>G
 gnomAD v4 COSMIC COSMIC
16g.20348729T>GCA394985430UMODc.572A>C (p.Glu191Ala)
c.671A>C (p.Glu224Ala)
c.719A>C (p.Glu240Ala)
c.656A>C (p.Glu219Ala)
n.797A>C
16g.20348729_20348730delinsTCCA2211942522UMODc.571_572delinsGA (p.Glu191=)
c.670_671delinsGA (p.Glu224=)
c.718_719delinsGA (p.Glu240=)
c.655_656delinsGA (p.Glu219=)
n.796_797delinsGA
16g.20348730C>ACA394985431UMODc.571G>T (p.Glu191Ter)
c.670G>T (p.Glu224Ter)
c.718G>T (p.Glu240Ter)
c.655G>T (p.Glu219Ter)
n.796G>T
 gnomAD v4
16g.20348730C>GCA394985432UMODc.571G>C (p.Glu191Gln)
c.670G>C (p.Glu224Gln)
c.718G>C (p.Glu240Gln)
c.655G>C (p.Glu219Gln)
n.796G>C
16g.20348730C>TCA394985433UMODc.571G>A (p.Glu191Lys)
c.670G>A (p.Glu224Lys)
c.718G>A (p.Glu240Lys)
c.655G>A (p.Glu219Lys)
n.796G>A
 gnomAD v4
16g.20348733delCA2211942524UMODc.571del (p.Glu191ArgfsTer?)
c.670del (p.Glu224ArgfsTer?)
c.718del (p.Glu240ArgfsTer?)
c.655del (p.Glu219ArgfsTer?)
n.796del
 dbSNP gnomAD v4
16g.20348731C>ACA494096969UMODc.570G>T (p.Gly190=)
c.669G>T (p.Gly223=)
c.717G>T (p.Gly239=)
c.654G>T (p.Gly218=)
n.795G>T
 gnomAD v4
16g.20348731C=CA2211942526UMODc.570G= (p.Gly190=)
c.669G= (p.Gly223=)
c.717G= (p.Gly239=)
c.654G= (p.Gly218=)
n.795G=
16g.20348731C>GCA494096971UMODc.570G>C (p.Gly190=)
c.669G>C (p.Gly223=)
c.717G>C (p.Gly239=)
c.654G>C (p.Gly218=)
n.795G>C
 gnomAD v4
16g.20348731C>TCA494096974UMODc.570G>A (p.Gly190=)
c.669G>A (p.Gly223=)
c.717G>A (p.Gly239=)
c.654G>A (p.Gly218=)
n.795G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348732C>ACA394985434UMODc.569G>T (p.Gly190Val)
c.668G>T (p.Gly223Val)
c.716G>T (p.Gly239Val)
c.653G>T (p.Gly218Val)
n.794G>T
 gnomAD v4
16g.20348732C=CA2211942532UMODc.569G= (p.Gly190=)
c.668G= (p.Gly223=)
c.716G= (p.Gly239=)
c.653G= (p.Gly218=)
n.794G=
16g.20348732C>GCA394985435UMODc.569G>C (p.Gly190Ala)
c.668G>C (p.Gly223Ala)
c.716G>C (p.Gly239Ala)
c.653G>C (p.Gly218Ala)
n.794G>C
 gnomAD v4
16g.20348732C>TCA279299845UMODc.569G>A (p.Gly190Glu)
c.668G>A (p.Gly223Glu)
c.716G>A (p.Gly239Glu)
c.653G>A (p.Gly218Glu)
n.794G>A
 dbSNP gnomAD v4 COSMIC COSMIC
16g.20348733C>ACA394985436UMODc.568G>T (p.Gly190Trp)
c.667G>T (p.Gly223Trp)
c.715G>T (p.Gly239Trp)
c.652G>T (p.Gly218Trp)
n.793G>T
 gnomAD v4
16g.20348733C=CA2211942537UMODc.568G= (p.Gly190=)
c.667G= (p.Gly223=)
c.715G= (p.Gly239=)
c.652G= (p.Gly218=)
n.793G=
16g.20348733C>GCA394985437UMODc.568G>C (p.Gly190Arg)
c.667G>C (p.Gly223Arg)
c.715G>C (p.Gly239Arg)
c.652G>C (p.Gly218Arg)
n.793G>C
 dbSNP gnomAD v2 gnomAD v4
16g.20348733C>TCA279299864UMODc.568G>A (p.Gly190Arg)
c.667G>A (p.Gly223Arg)
c.715G>A (p.Gly239Arg)
c.652G>A (p.Gly218Arg)
n.793G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348734G>ACA216156UMODc.567C>T (p.Tyr189=)
c.666C>T (p.Tyr222=)
c.714C>T (p.Tyr238=)
c.651C>T (p.Tyr217=)
n.792C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348734G>CCA394985442UMODc.567C>G (p.Tyr189Ter)
c.666C>G (p.Tyr222Ter)
c.714C>G (p.Tyr238Ter)
c.651C>G (p.Tyr217Ter)
n.792C>G
 dbSNP gnomAD v2 gnomAD v4
16g.20348734G=CA2211942545UMODc.567C= (p.Tyr189=)
c.666C= (p.Tyr222=)
c.714C= (p.Tyr238=)
c.651C= (p.Tyr217=)
n.792C=
16g.20348734G>TCA394985440UMODc.567C>A (p.Tyr189Ter)
c.666C>A (p.Tyr222Ter)
c.714C>A (p.Tyr238Ter)
c.651C>A (p.Tyr217Ter)
n.792C>A
 gnomAD v4
16g.20348735T>ACA394985447UMODc.566A>T (p.Tyr189Phe)
c.665A>T (p.Tyr222Phe)
c.713A>T (p.Tyr238Phe)
c.650A>T (p.Tyr217Phe)
n.791A>T
 gnomAD v4
16g.20348735T>CCA394985444UMODc.566A>G (p.Tyr189Cys)
c.665A>G (p.Tyr222Cys)
c.713A>G (p.Tyr238Cys)
c.650A>G (p.Tyr217Cys)
n.791A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.20348735T>GCA394985446UMODc.566A>C (p.Tyr189Ser)
c.665A>C (p.Tyr222Ser)
c.713A>C (p.Tyr238Ser)
c.650A>C (p.Tyr217Ser)
n.791A>C
16g.20348735T=CA2211942553UMODc.566A= (p.Tyr189=)
c.665A= (p.Tyr222=)
c.713A= (p.Tyr238=)
c.650A= (p.Tyr217=)
n.791A=
16g.20348736A=CA2211942557UMODc.565T= (p.Tyr189=)
c.664T= (p.Tyr222=)
c.712T= (p.Tyr238=)
c.649T= (p.Tyr217=)
n.790T=
16g.20348736A>CCA394985448UMODc.565T>G (p.Tyr189Asp)
c.664T>G (p.Tyr222Asp)
c.712T>G (p.Tyr238Asp)
c.649T>G (p.Tyr217Asp)
n.790T>G
16g.20348736A>GCA394985450UMODc.565T>C (p.Tyr189His)
c.664T>C (p.Tyr222His)
c.712T>C (p.Tyr238His)
c.649T>C (p.Tyr217His)
n.790T>C
 gnomAD v4
16g.20348736A>TCA394985452UMODc.565T>A (p.Tyr189Asn)
c.664T>A (p.Tyr222Asn)
c.712T>A (p.Tyr238Asn)
c.649T>A (p.Tyr217Asn)
n.790T>A
 dbSNP gnomAD v3 gnomAD v4
16g.20348737C>ACA394985453UMODc.564G>T (p.Glu188Asp)
c.663G>T (p.Glu221Asp)
c.711G>T (p.Glu237Asp)
c.648G>T (p.Glu216Asp)
n.789G>T
 gnomAD v4
16g.20348737C=CA2211942560UMODc.564G= (p.Glu188=)
c.663G= (p.Glu221=)
c.711G= (p.Glu237=)
c.648G= (p.Glu216=)
n.789G=
16g.20348737C>GCA394985455UMODc.564G>C (p.Glu188Asp)
c.663G>C (p.Glu221Asp)
c.711G>C (p.Glu237Asp)
c.648G>C (p.Glu216Asp)
n.789G>C
 dbSNP gnomAD v3 gnomAD v4
16g.20348737C>TCA494096980UMODc.564G>A (p.Glu188=)
c.663G>A (p.Glu221=)
c.711G>A (p.Glu237=)
c.648G>A (p.Glu216=)
n.789G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348738T>ACA394985460UMODc.563A>T (p.Glu188Val)
c.662A>T (p.Glu221Val)
c.710A>T (p.Glu237Val)
c.647A>T (p.Glu216Val)
n.788A>T
16g.20348738T>CCA394985457UMODc.563A>G (p.Glu188Gly)
c.662A>G (p.Glu221Gly)
c.710A>G (p.Glu237Gly)
c.647A>G (p.Glu216Gly)
n.788A>G
16g.20348738T>GCA394985458UMODc.563A>C (p.Glu188Ala)
c.662A>C (p.Glu221Ala)
c.710A>C (p.Glu237Ala)
c.647A>C (p.Glu216Ala)
n.788A>C
 gnomAD v4
16g.20348739C>ACA394985462UMODc.562G>T (p.Glu188Ter)
c.661G>T (p.Glu221Ter)
c.709G>T (p.Glu237Ter)
c.646G>T (p.Glu216Ter)
n.787G>T
 gnomAD v4
16g.20348739C=CA2211942564UMODc.562G= (p.Glu188=)
c.661G= (p.Glu221=)
c.709G= (p.Glu237=)
c.646G= (p.Glu216=)
n.787G=
16g.20348739C>GCA394985463UMODc.562G>C (p.Glu188Gln)
c.661G>C (p.Glu221Gln)
c.709G>C (p.Glu237Gln)
c.646G>C (p.Glu216Gln)
n.787G>C
16g.20348739C>TCA7939432UMODc.562G>A (p.Glu188Lys)
c.661G>A (p.Glu221Lys)
c.709G>A (p.Glu237Lys)
c.646G>A (p.Glu216Lys)
n.787G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348740G>ACA7939433UMODc.561C>T (p.Thr187=)
c.660C>T (p.Thr220=)
c.708C>T (p.Thr236=)
c.645C>T (p.Thr215=)
n.786C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.20348740G>CCA7939434UMODc.561C>G (p.Thr187=)
c.660C>G (p.Thr220=)
c.708C>G (p.Thr236=)
c.645C>G (p.Thr215=)
n.786C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348740G=CA2211942568UMODc.561C= (p.Thr187=)
c.660C= (p.Thr220=)
c.708C= (p.Thr236=)
c.645C= (p.Thr215=)
n.786C=
16g.20348740G>TCA494096988UMODc.561C>A (p.Thr187=)
c.660C>A (p.Thr220=)
c.708C>A (p.Thr236=)
c.645C>A (p.Thr215=)
n.786C>A
 gnomAD v4
16g.20348741G>ACA394985468UMODc.560C>T (p.Thr187Ile)
c.659C>T (p.Thr220Ile)
c.707C>T (p.Thr236Ile)
c.644C>T (p.Thr215Ile)
n.785C>T
 gnomAD v4
16g.20348741G>CCA394985470UMODc.560C>G (p.Thr187Ser)
c.659C>G (p.Thr220Ser)
c.707C>G (p.Thr236Ser)
c.644C>G (p.Thr215Ser)
n.785C>G
16g.20348741G=CA2211942578UMODc.560C= (p.Thr187=)
c.659C= (p.Thr220=)
c.707C= (p.Thr236=)
c.644C= (p.Thr215=)
n.785C=
16g.20348741G>TCA394985469UMODc.560C>A (p.Thr187Asn)
c.659C>A (p.Thr220Asn)
c.707C>A (p.Thr236Asn)
c.644C>A (p.Thr215Asn)
n.785C>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348742T>ACA394985471UMODc.559A>T (p.Thr187Ser)
c.658A>T (p.Thr220Ser)
c.706A>T (p.Thr236Ser)
c.643A>T (p.Thr215Ser)
n.784A>T
16g.20348742T>CCA394985472UMODc.559A>G (p.Thr187Ala)
c.658A>G (p.Thr220Ala)
c.706A>G (p.Thr236Ala)
c.643A>G (p.Thr215Ala)
n.784A>G
 gnomAD v4
16g.20348742T>GCA394985473UMODc.559A>C (p.Thr187Pro)
c.658A>C (p.Thr220Pro)
c.706A>C (p.Thr236Pro)
c.643A>C (p.Thr215Pro)
n.784A>C
16g.20348743G>ACA494096995UMODc.558C>T (p.Ser186=)
c.657C>T (p.Ser219=)
c.705C>T (p.Ser235=)
c.642C>T (p.Ser214=)
n.783C>T
16g.20348743G>CCA394985475UMODc.558C>G (p.Ser186Arg)
c.657C>G (p.Ser219Arg)
c.705C>G (p.Ser235Arg)
c.642C>G (p.Ser214Arg)
n.783C>G
16g.20348743G>TCA394985476UMODc.558C>A (p.Ser186Arg)
c.657C>A (p.Ser219Arg)
c.705C>A (p.Ser235Arg)
c.642C>A (p.Ser214Arg)
n.783C>A
 gnomAD v4
16g.20348744C>ACA394985478UMODc.557G>T (p.Ser186Ile)
c.656G>T (p.Ser219Ile)
c.704G>T (p.Ser235Ile)
c.641G>T (p.Ser214Ile)
n.782G>T
 gnomAD v4
16g.20348744C>GCA394985480UMODc.557G>C (p.Ser186Thr)
c.656G>C (p.Ser219Thr)
c.704G>C (p.Ser235Thr)
c.641G>C (p.Ser214Thr)
n.782G>C
16g.20348744C>TCA394985482UMODc.557G>A (p.Ser186Asn)
c.656G>A (p.Ser219Asn)
c.704G>A (p.Ser235Asn)
c.641G>A (p.Ser214Asn)
n.782G>A
 gnomAD v4
16g.20348745T>ACA394985483UMODc.556A>T (p.Ser186Cys)
c.655A>T (p.Ser219Cys)
c.703A>T (p.Ser235Cys)
c.640A>T (p.Ser214Cys)
n.781A>T
16g.20348745T>CCA394985485UMODc.556A>G (p.Ser186Gly)
c.655A>G (p.Ser219Gly)
c.703A>G (p.Ser235Gly)
c.640A>G (p.Ser214Gly)
n.781A>G
 gnomAD v4
16g.20348745T>GCA394985486UMODc.556A>C (p.Ser186Arg)
c.655A>C (p.Ser219Arg)
c.703A>C (p.Ser235Arg)
c.640A>C (p.Ser214Arg)
n.781A>C
16g.20348745_20348772delinsTGCGCCAGTACTCGTCCAGGGTGCGGTGCA2211942581UMODc.529_556delinsCACCGCACCCTGGACGAGTACTGGCGCA (p.His177=)
c.628_655delinsCACCGCACCCTGGACGAGTACTGGCGCA (p.His210=)
c.676_703delinsCACCGCACCCTGGACGAGTACTGGCGCA (p.His226=)
c.613_640delinsCACCGCACCCTGGACGAGTACTGGCGCA (p.His205=)
n.754_781delinsCACCGCACCCTGGACGAGTACTGGCGCA
16g.20348746G>ACA279299904UMODc.555C>T (p.Arg185=)
c.654C>T (p.Arg218=)
c.702C>T (p.Arg234=)
c.639C>T (p.Arg213=)
n.780C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.20348746G>CCA494097008UMODc.555C>G (p.Arg185=)
c.654C>G (p.Arg218=)
c.702C>G (p.Arg234=)
c.639C>G (p.Arg213=)
n.780C>G
 dbSNP
16g.20348746G=CA2211942588UMODc.555C= (p.Arg185=)
c.654C= (p.Arg218=)
c.702C= (p.Arg234=)
c.639C= (p.Arg213=)
n.780C=
16g.20348746G>TCA494097009UMODc.555C>A (p.Arg185=)
c.654C>A (p.Arg218=)
c.702C>A (p.Arg234=)
c.639C>A (p.Arg213=)
n.780C>A
 gnomAD v4
16g.20348746_20348772delCA494097010UMODc.529_555del (p.His177_Arg185del)
c.628_654del (p.His210_Arg218del)
c.676_702del (p.His226_Arg234del)
c.613_639del (p.His205_Arg213del)
n.754_780del
 ClinVar dbSNP
16g.20348747C>ACA394985489UMODc.554G>T (p.Arg185Leu)
c.653G>T (p.Arg218Leu)
c.701G>T (p.Arg234Leu)
c.638G>T (p.Arg213Leu)
n.779G>T
 gnomAD v4
16g.20348747C>GCA394985491UMODc.554G>C (p.Arg185Pro)
c.653G>C (p.Arg218Pro)
c.701G>C (p.Arg234Pro)
c.638G>C (p.Arg213Pro)
n.779G>C
16g.20348747C>TCA394985490UMODc.554G>A (p.Arg185His)
c.653G>A (p.Arg218His)
c.701G>A (p.Arg234His)
c.638G>A (p.Arg213His)
n.779G>A
 ClinVar gnomAD v4
16g.20348748G>ACA394985492UMODc.553C>T (p.Arg185Cys)
c.652C>T (p.Arg218Cys)
c.700C>T (p.Arg234Cys)
c.637C>T (p.Arg213Cys)
n.778C>T
 ClinVar dbSNP gnomAD v4
16g.20348748G>CCA394985493UMODc.553C>G (p.Arg185Gly)
c.652C>G (p.Arg218Gly)
c.700C>G (p.Arg234Gly)
c.637C>G (p.Arg213Gly)
n.778C>G
16g.20348748G=CA2211942595UMODc.553C= (p.Arg185=)
c.652C= (p.Arg218=)
c.700C= (p.Arg234=)
c.637C= (p.Arg213=)
n.778C=
16g.20348748G>TCA394985495UMODc.553C>A (p.Arg185Ser)
c.652C>A (p.Arg218Ser)
c.700C>A (p.Arg234Ser)
c.637C>A (p.Arg213Ser)
n.778C>A
 ClinVar gnomAD v4
16g.20348749C>ACA394985496UMODc.552G>T (p.Trp184Cys)
c.651G>T (p.Trp217Cys)
c.699G>T (p.Trp233Cys)
c.636G>T (p.Trp212Cys)
n.777G>T
16g.20348749C=CA2211942604UMODc.552G= (p.Trp184=)
c.651G= (p.Trp217=)
c.699G= (p.Trp233=)
c.636G= (p.Trp212=)
n.777G=
16g.20348749C>GCA394985498UMODc.552G>C (p.Trp184Cys)
c.651G>C (p.Trp217Cys)
c.699G>C (p.Trp233Cys)
c.636G>C (p.Trp212Cys)
n.777G>C
 ClinVar dbSNP
16g.20348749C>TCA394985500UMODc.552G>A (p.Trp184Ter)
c.651G>A (p.Trp217Ter)
c.699G>A (p.Trp233Ter)
c.636G>A (p.Trp212Ter)
n.777G>A
 gnomAD v4
16g.20348750C>ACA394985504UMODc.551G>T (p.Trp184Leu)
c.650G>T (p.Trp217Leu)
c.698G>T (p.Trp233Leu)
c.635G>T (p.Trp212Leu)
n.776G>T
16g.20348750C>GCA394985501UMODc.551G>C (p.Trp184Ser)
c.650G>C (p.Trp217Ser)
c.698G>C (p.Trp233Ser)
c.635G>C (p.Trp212Ser)
n.776G>C
16g.20348750C>TCA394985503UMODc.551G>A (p.Trp184Ter)
c.650G>A (p.Trp217Ter)
c.698G>A (p.Trp233Ter)
c.635G>A (p.Trp212Ter)
n.776G>A
 gnomAD v4
16g.20348751A=CA2211942611UMODc.550T= (p.Trp184=)
c.649T= (p.Trp217=)
c.697T= (p.Trp233=)
c.634T= (p.Trp212=)
n.775T=
16g.20348751A>CCA394985506UMODc.550T>G (p.Trp184Gly)
c.649T>G (p.Trp217Gly)
c.697T>G (p.Trp233Gly)
c.634T>G (p.Trp212Gly)
n.775T>G
16g.20348751A>GCA394985508UMODc.550T>C (p.Trp184Arg)
c.649T>C (p.Trp217Arg)
c.697T>C (p.Trp233Arg)
c.634T>C (p.Trp212Arg)
n.775T>C
 dbSNP gnomAD v2 gnomAD v4
16g.20348751A>TCA394985510UMODc.550T>A (p.Trp184Arg)
c.649T>A (p.Trp217Arg)
c.697T>A (p.Trp233Arg)
c.634T>A (p.Trp212Arg)
n.775T>A
16g.20348752G>ACA494097019UMODc.549C>T (p.Tyr183=)
c.648C>T (p.Tyr216=)
c.696C>T (p.Tyr232=)
c.633C>T (p.Tyr211=)
n.774C>T
 gnomAD v4
16g.20348752G>CCA394985511UMODc.549C>G (p.Tyr183Ter)
c.648C>G (p.Tyr216Ter)
c.696C>G (p.Tyr232Ter)
c.633C>G (p.Tyr211Ter)
n.774C>G
16g.20348752G>TCA394985512UMODc.549C>A (p.Tyr183Ter)
c.648C>A (p.Tyr216Ter)
c.696C>A (p.Tyr232Ter)
c.633C>A (p.Tyr211Ter)
n.774C>A
 gnomAD v4
16g.20348753T>ACA394985514UMODc.548A>T (p.Tyr183Phe)
c.647A>T (p.Tyr216Phe)
c.695A>T (p.Tyr232Phe)
c.632A>T (p.Tyr211Phe)
n.773A>T
16g.20348753T>CCA16620080UMODc.548A>G (p.Tyr183Cys)
c.647A>G (p.Tyr216Cys)
c.695A>G (p.Tyr232Cys)
c.632A>G (p.Tyr211Cys)
n.773A>G
 ClinVar dbSNP gnomAD v4
16g.20348753T>GCA394985516UMODc.548A>C (p.Tyr183Ser)
c.647A>C (p.Tyr216Ser)
c.695A>C (p.Tyr232Ser)
c.632A>C (p.Tyr211Ser)
n.773A>C
16g.20348753T=CA2211942618UMODc.548A= (p.Tyr183=)
c.647A= (p.Tyr216=)
c.695A= (p.Tyr232=)
c.632A= (p.Tyr211=)
n.773A=
16g.20348754A>CCA394985518UMODc.547T>G (p.Tyr183Asp)
c.646T>G (p.Tyr216Asp)
c.694T>G (p.Tyr232Asp)
c.631T>G (p.Tyr211Asp)
n.772T>G
 gnomAD v4
16g.20348754A>GCA394985519UMODc.547T>C (p.Tyr183His)
c.646T>C (p.Tyr216His)
c.694T>C (p.Tyr232His)
c.631T>C (p.Tyr211His)
n.772T>C
 gnomAD v4
16g.20348754A>TCA394985521UMODc.547T>A (p.Tyr183Asn)
c.646T>A (p.Tyr216Asn)
c.694T>A (p.Tyr232Asn)
c.631T>A (p.Tyr211Asn)
n.772T>A
16g.20348755C>ACA394985523UMODc.546G>T (p.Glu182Asp)
c.645G>T (p.Glu215Asp)
c.693G>T (p.Glu231Asp)
c.630G>T (p.Glu210Asp)
n.771G>T
 gnomAD v4
16g.20348755C=CA2211942620UMODc.546G= (p.Glu182=)
c.645G= (p.Glu215=)
c.693G= (p.Glu231=)
c.630G= (p.Glu210=)
n.771G=
16g.20348755C>GCA394985525UMODc.546G>C (p.Glu182Asp)
c.645G>C (p.Glu215Asp)
c.693G>C (p.Glu231Asp)
c.630G>C (p.Glu210Asp)
n.771G>C
16g.20348755C>TCA494097024UMODc.546G>A (p.Glu182=)
c.645G>A (p.Glu215=)
c.693G>A (p.Glu231=)
c.630G>A (p.Glu210=)
n.771G>A
 dbSNP gnomAD v4
16g.20348756T>ACA394985527UMODc.545A>T (p.Glu182Val)
c.644A>T (p.Glu215Val)
c.692A>T (p.Glu231Val)
c.629A>T (p.Glu210Val)
n.770A>T
16g.20348756T>CCA394985529UMODc.545A>G (p.Glu182Gly)
c.644A>G (p.Glu215Gly)
c.692A>G (p.Glu231Gly)
c.629A>G (p.Glu210Gly)
n.770A>G
 gnomAD v4
16g.20348756T>GCA394985531UMODc.545A>C (p.Glu182Ala)
c.644A>C (p.Glu215Ala)
c.692A>C (p.Glu231Ala)
c.629A>C (p.Glu210Ala)
n.770A>C
16g.20348757C>ACA394985532UMODc.544G>T (p.Glu182Ter)
c.643G>T (p.Glu215Ter)
c.691G>T (p.Glu231Ter)
c.628G>T (p.Glu210Ter)
n.769G>T
 dbSNP gnomAD v4
16g.20348757C=CA2211942623UMODc.544G= (p.Glu182=)
c.643G= (p.Glu215=)
c.691G= (p.Glu231=)
c.628G= (p.Glu210=)
n.769G=
16g.20348757C>GCA394985534UMODc.544G>C (p.Glu182Gln)
c.643G>C (p.Glu215Gln)
c.691G>C (p.Glu231Gln)
c.628G>C (p.Glu210Gln)
n.769G>C
16g.20348757C>TCA394985538UMODc.544G>A (p.Glu182Lys)
c.643G>A (p.Glu215Lys)
c.691G>A (p.Glu231Lys)
c.628G>A (p.Glu210Lys)
n.769G>A
 ClinVar gnomAD v4
16g.20348758G>ACA494097029UMODc.543C>T (p.Asp181=)
c.642C>T (p.Asp214=)
c.690C>T (p.Asp230=)
c.627C>T (p.Asp209=)
n.768C>T
 gnomAD v4
16g.20348758G>CCA394985540UMODc.543C>G (p.Asp181Glu)
c.642C>G (p.Asp214Glu)
c.690C>G (p.Asp230Glu)
c.627C>G (p.Asp209Glu)
n.768C>G
16g.20348758G>TCA394985542UMODc.543C>A (p.Asp181Glu)
c.642C>A (p.Asp214Glu)
c.690C>A (p.Asp230Glu)
c.627C>A (p.Asp209Glu)
n.768C>A
 gnomAD v4 COSMIC COSMIC
16g.20348759delCA2632115460UMODc.542del (p.Asp181AlafsTer?)
c.641del (p.Asp214AlafsTer?)
c.689del (p.Asp230AlafsTer?)
c.626del (p.Asp209AlafsTer?)
n.767del
 gnomAD v4
16g.20348759T>ACA394985545UMODc.542A>T (p.Asp181Val)
c.641A>T (p.Asp214Val)
c.689A>T (p.Asp230Val)
c.626A>T (p.Asp209Val)
n.767A>T
16g.20348759T>CCA394985548UMODc.542A>G (p.Asp181Gly)
c.641A>G (p.Asp214Gly)
c.689A>G (p.Asp230Gly)
c.626A>G (p.Asp209Gly)
n.767A>G
 gnomAD v4
16g.20348759T>GCA394985546UMODc.542A>C (p.Asp181Ala)
c.641A>C (p.Asp214Ala)
c.689A>C (p.Asp230Ala)
c.626A>C (p.Asp209Ala)
n.767A>C
16g.20348760C>ACA394985549UMODc.541G>T (p.Asp181Tyr)
c.640G>T (p.Asp214Tyr)
c.688G>T (p.Asp230Tyr)
c.625G>T (p.Asp209Tyr)
n.766G>T
 dbSNP gnomAD v3 gnomAD v4
16g.20348760C=CA2211942628UMODc.541G= (p.Asp181=)
c.640G= (p.Asp214=)
c.688G= (p.Asp230=)
c.625G= (p.Asp209=)
n.766G=
16g.20348760C>GCA394985550UMODc.541G>C (p.Asp181His)
c.640G>C (p.Asp214His)
c.688G>C (p.Asp230His)
c.625G>C (p.Asp209His)
n.766G>C
16g.20348760C>TCA394985552UMODc.541G>A (p.Asp181Asn)
c.640G>A (p.Asp214Asn)
c.688G>A (p.Asp230Asn)
c.625G>A (p.Asp209Asn)
n.766G>A
 dbSNP gnomAD v3 gnomAD v4
16g.20348761C>ACA494097031UMODc.540G>T (p.Leu180=)
c.639G>T (p.Leu213=)
c.687G>T (p.Leu229=)
c.624G>T (p.Leu208=)
n.765G>T
 gnomAD v4
16g.20348761C=CA2211942632UMODc.540G= (p.Leu180=)
c.639G= (p.Leu213=)
c.687G= (p.Leu229=)
c.624G= (p.Leu208=)
n.765G=
16g.20348761C>GCA494097032UMODc.540G>C (p.Leu180=)
c.639G>C (p.Leu213=)
c.687G>C (p.Leu229=)
c.624G>C (p.Leu208=)
n.765G>C
16g.20348761C>TCA494097033UMODc.540G>A (p.Leu180=)
c.639G>A (p.Leu213=)
c.687G>A (p.Leu229=)
c.624G>A (p.Leu208=)
n.765G>A
 dbSNP gnomAD v4
16g.20348762A=CA2211942636UMODc.539T= (p.Leu180=)
c.638T= (p.Leu213=)
c.686T= (p.Leu229=)
c.623T= (p.Leu208=)
n.764T=
16g.20348762A>CCA394985555UMODc.539T>G (p.Leu180Arg)
c.638T>G (p.Leu213Arg)
c.686T>G (p.Leu229Arg)
c.623T>G (p.Leu208Arg)
n.764T>G
16g.20348762A>GCA243288UMODc.539T>C (p.Leu180Pro)
c.638T>C (p.Leu213Pro)
c.686T>C (p.Leu229Pro)
c.623T>C (p.Leu208Pro)
n.764T>C
 ClinVar dbSNP gnomAD v4
16g.20348762A>TCA394985556UMODc.539T>A (p.Leu180Gln)
c.638T>A (p.Leu213Gln)
c.686T>A (p.Leu229Gln)
c.623T>A (p.Leu208Gln)
n.764T>A
16g.20348763G>ACA494097035UMODc.538C>T (p.Leu180=)
c.637C>T (p.Leu213=)
c.685C>T (p.Leu229=)
c.622C>T (p.Leu208=)
n.763C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348763G>CCA202326UMODc.538C>G (p.Leu180Val)
c.637C>G (p.Leu213Val)
c.685C>G (p.Leu229Val)
c.622C>G (p.Leu208Val)
n.763C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348763G=CA2211942639UMODc.538C= (p.Leu180=)
c.637C= (p.Leu213=)
c.685C= (p.Leu229=)
c.622C= (p.Leu208=)
n.763C=
16g.20348763G>TCA394985558UMODc.538C>A (p.Leu180Met)
c.637C>A (p.Leu213Met)
c.685C>A (p.Leu229Met)
c.622C>A (p.Leu208Met)
n.763C>A
 gnomAD v4
16g.20348764G>ACA494097038UMODc.537C>T (p.Thr179=)
c.636C>T (p.Thr212=)
c.684C>T (p.Thr228=)
c.621C>T (p.Thr207=)
n.762C>T
 gnomAD v4
16g.20348764G>CCA494097039UMODc.537C>G (p.Thr179=)
c.636C>G (p.Thr212=)
c.684C>G (p.Thr228=)
c.621C>G (p.Thr207=)
n.762C>G
16g.20348764G>TCA494097037UMODc.537C>A (p.Thr179=)
c.636C>A (p.Thr212=)
c.684C>A (p.Thr228=)
c.621C>A (p.Thr207=)
n.762C>A
 gnomAD v4
16g.20348765G>ACA394985560UMODc.536C>T (p.Thr179Ile)
c.635C>T (p.Thr212Ile)
c.683C>T (p.Thr228Ile)
c.620C>T (p.Thr207Ile)
n.761C>T
 gnomAD v4
16g.20348765G>CCA394985561UMODc.536C>G (p.Thr179Ser)
c.635C>G (p.Thr212Ser)
c.683C>G (p.Thr228Ser)
c.620C>G (p.Thr207Ser)
n.761C>G
 dbSNP
16g.20348765G=CA2211942645UMODc.536C= (p.Thr179=)
c.635C= (p.Thr212=)
c.683C= (p.Thr228=)
c.620C= (p.Thr207=)
n.761C=
16g.20348765G>TCA394985562UMODc.536C>A (p.Thr179Asn)
c.635C>A (p.Thr212Asn)
c.683C>A (p.Thr228Asn)
c.620C>A (p.Thr207Asn)
n.761C>A
 gnomAD v4
16g.20348766T>ACA394985566UMODc.535A>T (p.Thr179Ser)
c.634A>T (p.Thr212Ser)
c.682A>T (p.Thr228Ser)
c.619A>T (p.Thr207Ser)
n.760A>T
16g.20348766T>CCA394985565UMODc.535A>G (p.Thr179Ala)
c.634A>G (p.Thr212Ala)
c.682A>G (p.Thr228Ala)
c.619A>G (p.Thr207Ala)
n.760A>G
 gnomAD v4
16g.20348766T>GCA394985563UMODc.535A>C (p.Thr179Pro)
c.634A>C (p.Thr212Pro)
c.682A>C (p.Thr228Pro)
c.619A>C (p.Thr207Pro)
n.760A>C
 gnomAD v4
16g.20348767G>ACA494097049UMODc.534C>T (p.Arg178=)
c.633C>T (p.Arg211=)
c.681C>T (p.Arg227=)
c.618C>T (p.Arg206=)
n.759C>T
 dbSNP
16g.20348767G>CCA494097046UMODc.534C>G (p.Arg178=)
c.633C>G (p.Arg211=)
c.681C>G (p.Arg227=)
c.618C>G (p.Arg206=)
n.759C>G
16g.20348767G=CA2211942649UMODc.534C= (p.Arg178=)
c.633C= (p.Arg211=)
c.681C= (p.Arg227=)
c.618C= (p.Arg206=)
n.759C=
16g.20348767G>TCA494097048UMODc.534C>A (p.Arg178=)
c.633C>A (p.Arg211=)
c.681C>A (p.Arg227=)
c.618C>A (p.Arg206=)
n.759C>A
 gnomAD v4
16g.20348768C>ACA394985569UMODc.533G>T (p.Arg178Leu)
c.632G>T (p.Arg211Leu)
c.680G>T (p.Arg227Leu)
c.617G>T (p.Arg206Leu)
n.758G>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
16g.20348768C=CA2211942658UMODc.533G= (p.Arg178=)
c.632G= (p.Arg211=)
c.680G= (p.Arg227=)
c.617G= (p.Arg206=)
n.758G=
16g.20348768C>GCA394985570UMODc.533G>C (p.Arg178Pro)
c.632G>C (p.Arg211Pro)
c.680G>C (p.Arg227Pro)
c.617G>C (p.Arg206Pro)
n.758G>C
 ClinVar dbSNP
16g.20348768C>TCA394985571UMODc.533G>A (p.Arg178His)
c.632G>A (p.Arg211His)
c.680G>A (p.Arg227His)
c.617G>A (p.Arg206His)
n.758G>A
 ClinVar gnomAD v4
16g.20348769G>ACA394985573UMODc.532C>T (p.Arg178Cys)
c.631C>T (p.Arg211Cys)
c.679C>T (p.Arg227Cys)
c.616C>T (p.Arg206Cys)
n.757C>T
 gnomAD v4 COSMIC COSMIC
16g.20348769G>CCA394985574UMODc.532C>G (p.Arg178Gly)
c.631C>G (p.Arg211Gly)
c.679C>G (p.Arg227Gly)
c.616C>G (p.Arg206Gly)
n.757C>G
 gnomAD v4
16g.20348769G>TCA394985576UMODc.532C>A (p.Arg178Ser)
c.631C>A (p.Arg211Ser)
c.679C>A (p.Arg227Ser)
c.616C>A (p.Arg206Ser)
n.757C>A
 gnomAD v4
16g.20348770G>ACA7939435UMODc.531C>T (p.His177=)
c.630C>T (p.His210=)
c.678C>T (p.His226=)
c.615C>T (p.His205=)
n.756C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348770G>CCA394985578UMODc.531C>G (p.His177Gln)
c.630C>G (p.His210Gln)
c.678C>G (p.His226Gln)
c.615C>G (p.His205Gln)
n.756C>G
 dbSNP gnomAD v4
16g.20348770G=CA2211942662UMODc.531C= (p.His177=)
c.630C= (p.His210=)
c.678C= (p.His226=)
c.615C= (p.His205=)
n.756C=
16g.20348770G>TCA394985579UMODc.531C>A (p.His177Gln)
c.630C>A (p.His210Gln)
c.678C>A (p.His226Gln)
c.615C>A (p.His205Gln)
n.756C>A
 gnomAD v4
16g.20348771T>ACA394985581UMODc.530A>T (p.His177Leu)
c.629A>T (p.His210Leu)
c.677A>T (p.His226Leu)
c.614A>T (p.His205Leu)
n.755A>T
 gnomAD v4
16g.20348771T>CCA394985582UMODc.530A>G (p.His177Arg)
c.629A>G (p.His210Arg)
c.677A>G (p.His226Arg)
c.614A>G (p.His205Arg)
n.755A>G
 gnomAD v4
16g.20348771T>GCA394985585UMODc.530A>C (p.His177Pro)
c.629A>C (p.His210Pro)
c.677A>C (p.His226Pro)
c.614A>C (p.His205Pro)
n.755A>C
16g.20348772G>ACA394985588UMODc.529C>T (p.His177Tyr)
c.628C>T (p.His210Tyr)
c.676C>T (p.His226Tyr)
c.613C>T (p.His205Tyr)
n.754C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348772G>CCA394985590UMODc.529C>G (p.His177Asp)
c.628C>G (p.His210Asp)
c.676C>G (p.His226Asp)
c.613C>G (p.His205Asp)
n.754C>G
 gnomAD v4
16g.20348772G=CA2211942666UMODc.529C= (p.His177=)
c.628C= (p.His210=)
c.676C= (p.His226=)
c.613C= (p.His205=)
n.754C=
16g.20348772G>TCA394985587UMODc.529C>A (p.His177Asn)
c.628C>A (p.His210Asn)
c.676C>A (p.His226Asn)
c.613C>A (p.His205Asn)
n.754C>A
 gnomAD v4
16g.20348773C>ACA494097060UMODc.528G>T (p.Ala176=)
c.627G>T (p.Ala209=)
c.675G>T (p.Ala225=)
c.612G>T (p.Ala204=)
n.753G>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348773C=CA2211942668UMODc.528G= (p.Ala176=)
c.627G= (p.Ala209=)
c.675G= (p.Ala225=)
c.612G= (p.Ala204=)
n.753G=
16g.20348773C>GCA279299910UMODc.528G>C (p.Ala176=)
c.627G>C (p.Ala209=)
c.675G>C (p.Ala225=)
c.612G>C (p.Ala204=)
n.753G>C
 dbSNP gnomAD v4
16g.20348773C>TCA7939436UMODc.528G>A (p.Ala176=)
c.627G>A (p.Ala209=)
c.675G>A (p.Ala225=)
c.612G>A (p.Ala204=)
n.753G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348773_20348774insAGGGAGGCAGAACTGAGGTGGGTTCCCCGACGTGAGGAGATGAACA2741472406UMODc.527_528insTTCATCTCCTCACGTCGGGGAACCCACCTCAGTTCTGCCTCCCT (p.His177SerfsTer?)
c.626_627insTTCATCTCCTCACGTCGGGGAACCCACCTCAGTTCTGCCTCCCT (p.His210SerfsTer?)
c.674_675insTTCATCTCCTCACGTCGGGGAACCCACCTCAGTTCTGCCTCCCT (p.His226SerfsTer?)
c.611_612insTTCATCTCCTCACGTCGGGGAACCCACCTCAGTTCTGCCTCCCT (p.His205SerfsTer?)
n.752_753insTTCATCTCCTCACGTCGGGGAACCCACCTCAGTTCTGCCTCCCT
16g.20348774G>ACA7939438UMODc.527C>T (p.Ala176Val)
c.626C>T (p.Ala209Val)
c.674C>T (p.Ala225Val)
c.611C>T (p.Ala204Val)
n.752C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348774G>CCA394985593UMODc.527C>G (p.Ala176Gly)
c.626C>G (p.Ala209Gly)
c.674C>G (p.Ala225Gly)
c.611C>G (p.Ala204Gly)
n.752C>G
 dbSNP gnomAD v2 gnomAD v4
16g.20348774G=CA2211942671UMODc.527C= (p.Ala176=)
c.626C= (p.Ala209=)
c.674C= (p.Ala225=)
c.611C= (p.Ala204=)
n.752C=
16g.20348774G>TCA7939437UMODc.527C>A (p.Ala176Glu)
c.626C>A (p.Ala209Glu)
c.674C>A (p.Ala225Glu)
c.611C>A (p.Ala204Glu)
n.752C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348775C>ACA394985604UMODc.526G>T (p.Ala176Ser)
c.625G>T (p.Ala209Ser)
c.673G>T (p.Ala225Ser)
c.610G>T (p.Ala204Ser)
n.751G>T
 gnomAD v4
16g.20348775C>GCA394985602UMODc.526G>C (p.Ala176Pro)
c.625G>C (p.Ala209Pro)
c.673G>C (p.Ala225Pro)
c.610G>C (p.Ala204Pro)
n.751G>C
16g.20348775C>TCA394985601UMODc.526G>A (p.Ala176Thr)
c.625G>A (p.Ala209Thr)
c.673G>A (p.Ala225Thr)
c.610G>A (p.Ala204Thr)
n.751G>A
 gnomAD v4
16g.20348776C>ACA394985605UMODc.525G>T (p.Gln175His)
c.624G>T (p.Gln208His)
c.672G>T (p.Gln224His)
c.609G>T (p.Gln203His)
n.750G>T
 gnomAD v4
16g.20348776C=CA2211942674UMODc.525G= (p.Gln175=)
c.624G= (p.Gln208=)
c.672G= (p.Gln224=)
c.609G= (p.Gln203=)
n.750G=
16g.20348776C>GCA394985606UMODc.525G>C (p.Gln175His)
c.624G>C (p.Gln208His)
c.672G>C (p.Gln224His)
c.609G>C (p.Gln203His)
n.750G>C
16g.20348776C>TCA7939439UMODc.525G>A (p.Gln175=)
c.624G>A (p.Gln208=)
c.672G>A (p.Gln224=)
c.609G>A (p.Gln203=)
n.750G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348777T>ACA394985607UMODc.524A>T (p.Gln175Leu)
c.623A>T (p.Gln208Leu)
c.671A>T (p.Gln224Leu)
c.608A>T (p.Gln203Leu)
n.749A>T
16g.20348777T>CCA394985608UMODc.524A>G (p.Gln175Arg)
c.623A>G (p.Gln208Arg)
c.671A>G (p.Gln224Arg)
c.608A>G (p.Gln203Arg)
n.749A>G
 gnomAD v4
16g.20348777T>GCA394985610UMODc.524A>C (p.Gln175Pro)
c.623A>C (p.Gln208Pro)
c.671A>C (p.Gln224Pro)
c.608A>C (p.Gln203Pro)
n.749A>C
16g.20348778G>ACA394985612UMODc.523C>T (p.Gln175Ter)
c.622C>T (p.Gln208Ter)
c.670C>T (p.Gln224Ter)
c.607C>T (p.Gln203Ter)
n.748C>T
16g.20348778G>CCA394985614UMODc.523C>G (p.Gln175Glu)
c.622C>G (p.Gln208Glu)
c.670C>G (p.Gln224Glu)
c.607C>G (p.Gln203Glu)
n.748C>G
16g.20348778G=CA2211942676UMODc.523C= (p.Gln175=)
c.622C= (p.Gln208=)
c.670C= (p.Gln224=)
c.607C= (p.Gln203=)
n.748C=
16g.20348778G>TCA7939440UMODc.523C>A (p.Gln175Lys)
c.622C>A (p.Gln208Lys)
c.670C>A (p.Gln224Lys)
c.607C>A (p.Gln203Lys)
n.748C>A
 dbSNP ExAC gnomAD v4
16g.20348779G>ACA147647UMODc.522C>T (p.Cys174=)
c.621C>T (p.Cys207=)
c.669C>T (p.Cys223=)
c.606C>T (p.Cys202=)
n.747C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348779G>CCA394985616UMODc.522C>G (p.Cys174Trp)
c.621C>G (p.Cys207Trp)
c.669C>G (p.Cys223Trp)
c.606C>G (p.Cys202Trp)
n.747C>G
16g.20348779G=CA2211942683UMODc.522C= (p.Cys174=)
c.621C= (p.Cys207=)
c.669C= (p.Cys223=)
c.606C= (p.Cys202=)
n.747C=
16g.20348779G>TCA394985618UMODc.522C>A (p.Cys174Ter)
c.621C>A (p.Cys207Ter)
c.669C>A (p.Cys223Ter)
c.606C>A (p.Cys202Ter)
n.747C>A
16g.20348779_20348780delCA2632115481UMODc.521_522del (p.Cys174SerfsTer?)
c.620_621del (p.Cys207SerfsTer?)
c.668_669del (p.Cys223SerfsTer?)
c.605_606del (p.Cys202SerfsTer?)
n.746_747del
 gnomAD v4
16g.20348780C>ACA394985619UMODc.521G>T (p.Cys174Phe)
c.620G>T (p.Cys207Phe)
c.668G>T (p.Cys223Phe)
c.605G>T (p.Cys202Phe)
n.746G>T
 gnomAD v4
16g.20348780C>GCA394985620UMODc.521G>C (p.Cys174Ser)
c.620G>C (p.Cys207Ser)
c.668G>C (p.Cys223Ser)
c.605G>C (p.Cys202Ser)
n.746G>C
16g.20348780C>TCA394985621UMODc.521G>A (p.Cys174Tyr)
c.620G>A (p.Cys207Tyr)
c.668G>A (p.Cys223Tyr)
c.605G>A (p.Cys202Tyr)
n.746G>A
 gnomAD v4
16g.20348781A>CCA394985622UMODc.520T>G (p.Cys174Gly)
c.619T>G (p.Cys207Gly)
c.667T>G (p.Cys223Gly)
c.604T>G (p.Cys202Gly)
n.745T>G
16g.20348781A>GCA394985623UMODc.520T>C (p.Cys174Arg)
c.619T>C (p.Cys207Arg)
c.667T>C (p.Cys223Arg)
c.604T>C (p.Cys202Arg)
n.745T>C
 ClinVar gnomAD v4
16g.20348781A>TCA394985624UMODc.520T>A (p.Cys174Ser)
c.619T>A (p.Cys207Ser)
c.667T>A (p.Cys223Ser)
c.604T>A (p.Cys202Ser)
n.745T>A
16g.20348782C>ACA494097087UMODc.519G>T (p.Pro173=)
c.618G>T (p.Pro206=)
c.666G>T (p.Pro222=)
c.603G>T (p.Pro201=)
n.744G>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348782C=CA2211942689UMODc.519G= (p.Pro173=)
c.618G= (p.Pro206=)
c.666G= (p.Pro222=)
c.603G= (p.Pro201=)
n.744G=
16g.20348782C>GCA494097088UMODc.519G>C (p.Pro173=)
c.618G>C (p.Pro206=)
c.666G>C (p.Pro222=)
c.603G>C (p.Pro201=)
n.744G>C
 dbSNP gnomAD v2 gnomAD v4
16g.20348782C>TCA494097089UMODc.519G>A (p.Pro173=)
c.618G>A (p.Pro206=)
c.666G>A (p.Pro222=)
c.603G>A (p.Pro201=)
n.744G>A
 gnomAD v4
16g.20348783G>ACA394985626UMODc.518C>T (p.Pro173Leu)
c.617C>T (p.Pro206Leu)
c.665C>T (p.Pro222Leu)
c.602C>T (p.Pro201Leu)
n.743C>T
 gnomAD v4
16g.20348783G>CCA394985628UMODc.518C>G (p.Pro173Arg)
c.617C>G (p.Pro206Arg)
c.665C>G (p.Pro222Arg)
c.602C>G (p.Pro201Arg)
n.743C>G
16g.20348783G>TCA394985630UMODc.518C>A (p.Pro173Gln)
c.617C>A (p.Pro206Gln)
c.665C>A (p.Pro222Gln)
c.602C>A (p.Pro201Gln)
n.743C>A
 ClinVar gnomAD v4
16g.20348784G>ACA394985633UMODc.517C>T (p.Pro173Ser)
c.616C>T (p.Pro206Ser)
c.664C>T (p.Pro222Ser)
c.601C>T (p.Pro201Ser)
n.742C>T
16g.20348784G>CCA394985632UMODc.517C>G (p.Pro173Ala)
c.616C>G (p.Pro206Ala)
c.664C>G (p.Pro222Ala)
c.601C>G (p.Pro201Ala)
n.742C>G
16g.20348784G>TCA394985631UMODc.517C>A (p.Pro173Thr)
c.616C>A (p.Pro206Thr)
c.664C>A (p.Pro222Thr)
c.601C>A (p.Pro201Thr)
n.742C>A
 gnomAD v4
16g.20348785A>CCA394985635UMODc.516T>G (p.Asp172Glu)
c.615T>G (p.Asp205Glu)
c.663T>G (p.Asp221Glu)
c.600T>G (p.Asp200Glu)
n.741T>G
16g.20348785A>GCA494097093UMODc.516T>C (p.Asp172=)
c.615T>C (p.Asp205=)
c.663T>C (p.Asp221=)
c.600T>C (p.Asp200=)
n.741T>C
16g.20348785A>TCA394985637UMODc.516T>A (p.Asp172Glu)
c.615T>A (p.Asp205Glu)
c.663T>A (p.Asp221Glu)
c.600T>A (p.Asp200Glu)
n.741T>A
16g.20348786T>ACA394985639UMODc.515A>T (p.Asp172Val)
c.614A>T (p.Asp205Val)
c.662A>T (p.Asp221Val)
c.599A>T (p.Asp200Val)
n.740A>T
 gnomAD v4
16g.20348786T>CCA394985640UMODc.515A>G (p.Asp172Gly)
c.614A>G (p.Asp205Gly)
c.662A>G (p.Asp221Gly)
c.599A>G (p.Asp200Gly)
n.740A>G
16g.20348786T>GCA394985642UMODc.515A>C (p.Asp172Ala)
c.614A>C (p.Asp205Ala)
c.662A>C (p.Asp221Ala)
c.599A>C (p.Asp200Ala)
n.740A>C
16g.20348787C>ACA394985644UMODc.514G>T (p.Asp172Tyr)
c.613G>T (p.Asp205Tyr)
c.661G>T (p.Asp221Tyr)
c.598G>T (p.Asp200Tyr)
n.739G>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348787C=CA2211942708UMODc.514G= (p.Asp172=)
c.613G= (p.Asp205=)
c.661G= (p.Asp221=)
c.598G= (p.Asp200=)
n.739G=
16g.20348787C>GCA394985646UMODc.514G>C (p.Asp172His)
c.613G>C (p.Asp205His)
c.661G>C (p.Asp221His)
c.598G>C (p.Asp200His)
n.739G>C
16g.20348787C>TCA394985647UMODc.514G>A (p.Asp172Asn)
c.613G>A (p.Asp205Asn)
c.661G>A (p.Asp221Asn)
c.598G>A (p.Asp200Asn)
n.739G>A
 gnomAD v4
16g.20348788C>ACA494097100UMODc.513G>T (p.Ala171=)
c.612G>T (p.Ala204=)
c.660G>T (p.Ala220=)
c.597G>T (p.Ala199=)
n.738G>T
 gnomAD v4
16g.20348788C=CA2211942713UMODc.513G= (p.Ala171=)
c.612G= (p.Ala204=)
c.660G= (p.Ala220=)
c.597G= (p.Ala199=)
n.738G=
16g.20348788C>GCA494097101UMODc.513G>C (p.Ala171=)
c.612G>C (p.Ala204=)
c.660G>C (p.Ala220=)
c.597G>C (p.Ala199=)
n.738G>C
 dbSNP gnomAD v2 gnomAD v4
16g.20348788C>TCA494097103UMODc.513G>A (p.Ala171=)
c.612G>A (p.Ala204=)
c.660G>A (p.Ala220=)
c.597G>A (p.Ala199=)
n.738G>A
 gnomAD v4
16g.20348789G>ACA394985653UMODc.512C>T (p.Ala171Val)
c.611C>T (p.Ala204Val)
c.659C>T (p.Ala220Val)
c.596C>T (p.Ala199Val)
n.737C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348789G>CCA394985649UMODc.512C>G (p.Ala171Gly)
c.611C>G (p.Ala204Gly)
c.659C>G (p.Ala220Gly)
c.596C>G (p.Ala199Gly)
n.737C>G
 dbSNP gnomAD v3 gnomAD v4
16g.20348789G=CA2211942717UMODc.512C= (p.Ala171=)
c.611C= (p.Ala204=)
c.659C= (p.Ala220=)
c.596C= (p.Ala199=)
n.737C=
16g.20348789G>TCA394985651UMODc.512C>A (p.Ala171Glu)
c.611C>A (p.Ala204Glu)
c.659C>A (p.Ala220Glu)
c.596C>A (p.Ala199Glu)
n.737C>A
 gnomAD v4
16g.20348790C>ACA394985654UMODc.511G>T (p.Ala171Ser)
c.610G>T (p.Ala204Ser)
c.658G>T (p.Ala220Ser)
c.595G>T (p.Ala199Ser)
n.736G>T
 gnomAD v4
16g.20348790C=CA2211942723UMODc.511G= (p.Ala171=)
c.610G= (p.Ala204=)
c.658G= (p.Ala220=)
c.595G= (p.Ala199=)
n.736G=
16g.20348790C>GCA394985655UMODc.511G>C (p.Ala171Pro)
c.610G>C (p.Ala204Pro)
c.658G>C (p.Ala220Pro)
c.595G>C (p.Ala199Pro)
n.736G>C
16g.20348790C>TCA394985657UMODc.511G>A (p.Ala171Thr)
c.610G>A (p.Ala204Thr)
c.658G>A (p.Ala220Thr)
c.595G>A (p.Ala199Thr)
n.736G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348791G>ACA279299942UMODc.510C>T (p.Cys170=)
c.609C>T (p.Cys203=)
c.657C>T (p.Cys219=)
c.594C>T (p.Cys198=)
n.735C>T
 dbSNP gnomAD v4
16g.20348791G>CCA394985658UMODc.510C>G (p.Cys170Trp)
c.609C>G (p.Cys203Trp)
c.657C>G (p.Cys219Trp)
c.594C>G (p.Cys198Trp)
n.735C>G
16g.20348791G=CA2211942725UMODc.510C= (p.Cys170=)
c.609C= (p.Cys203=)
c.657C= (p.Cys219=)
c.594C= (p.Cys198=)
n.735C=
16g.20348791G>TCA394985659UMODc.510C>A (p.Cys170Ter)
c.609C>A (p.Cys203Ter)
c.657C>A (p.Cys219Ter)
c.594C>A (p.Cys198Ter)
n.735C>A
 gnomAD v4
16g.20348792C>ACA394985664UMODc.509G>T (p.Cys170Phe)
c.608G>T (p.Cys203Phe)
c.656G>T (p.Cys219Phe)
c.593G>T (p.Cys198Phe)
n.734G>T
 gnomAD v4
16g.20348792C>GCA394985662UMODc.509G>C (p.Cys170Ser)
c.608G>C (p.Cys203Ser)
c.656G>C (p.Cys219Ser)
c.593G>C (p.Cys198Ser)
n.734G>C
 gnomAD v4
16g.20348792C>TCA394985663UMODc.509G>A (p.Cys170Tyr)
c.608G>A (p.Cys203Tyr)
c.656G>A (p.Cys219Tyr)
c.593G>A (p.Cys198Tyr)
n.734G>A
 gnomAD v4
16g.20348793A>CCA394985665UMODc.508T>G (p.Cys170Gly)
c.607T>G (p.Cys203Gly)
c.655T>G (p.Cys219Gly)
c.592T>G (p.Cys198Gly)
n.733T>G
16g.20348793A>GCA394985667UMODc.508T>C (p.Cys170Arg)
c.607T>C (p.Cys203Arg)
c.655T>C (p.Cys219Arg)
c.592T>C (p.Cys198Arg)
n.733T>C
 ClinVar
16g.20348793A>TCA394985668UMODc.508T>A (p.Cys170Ser)
c.607T>A (p.Cys203Ser)
c.655T>A (p.Cys219Ser)
c.592T>A (p.Cys198Ser)
n.733T>A
16g.20348794C>ACA494097117UMODc.507G>T (p.Val169=)
c.606G>T (p.Val202=)
c.654G>T (p.Val218=)
c.591G>T (p.Val197=)
n.732G>T
 gnomAD v4
16g.20348794C>GCA494097115UMODc.507G>C (p.Val169=)
c.606G>C (p.Val202=)
c.654G>C (p.Val218=)
c.591G>C (p.Val197=)
n.732G>C
 gnomAD v4
16g.20348794C>TCA494097116UMODc.507G>A (p.Val169=)
c.606G>A (p.Val202=)
c.654G>A (p.Val218=)
c.591G>A (p.Val197=)
n.732G>A
 gnomAD v4
16g.20348795A>CCA394985669UMODc.506T>G (p.Val169Gly)
c.605T>G (p.Val202Gly)
c.653T>G (p.Val218Gly)
c.590T>G (p.Val197Gly)
n.731T>G
16g.20348795A>GCA394985671UMODc.506T>C (p.Val169Ala)
c.605T>C (p.Val202Ala)
c.653T>C (p.Val218Ala)
c.590T>C (p.Val197Ala)
n.731T>C
16g.20348795A>TCA394985673UMODc.506T>A (p.Val169Glu)
c.605T>A (p.Val202Glu)
c.653T>A (p.Val218Glu)
c.590T>A (p.Val197Glu)
n.731T>A
16g.20348796C>ACA394985674UMODc.505G>T (p.Val169Leu)
c.604G>T (p.Val202Leu)
c.652G>T (p.Val218Leu)
c.589G>T (p.Val197Leu)
n.730G>T
 dbSNP gnomAD v4
16g.20348796C=CA2211942732UMODc.505G= (p.Val169=)
c.604G= (p.Val202=)
c.652G= (p.Val218=)
c.589G= (p.Val197=)
n.730G=
16g.20348796C>GCA394985677UMODc.505G>C (p.Val169Leu)
c.604G>C (p.Val202Leu)
c.652G>C (p.Val218Leu)
c.589G>C (p.Val197Leu)
n.730G>C
 dbSNP gnomAD v4
16g.20348796C>TCA7939441UMODc.505G>A (p.Val169Met)
c.604G>A (p.Val202Met)
c.652G>A (p.Val218Met)
c.589G>A (p.Val197Met)
n.730G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348797G>ACA7939442UMODc.504C>T (p.Leu168=)
c.603C>T (p.Leu201=)
c.651C>T (p.Leu217=)
c.588C>T (p.Leu196=)
n.729C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348797G>CCA494097123UMODc.504C>G (p.Leu168=)
c.603C>G (p.Leu201=)
c.651C>G (p.Leu217=)
c.588C>G (p.Leu196=)
n.729C>G
 dbSNP gnomAD v2 gnomAD v4
16g.20348797G=CA2211942741UMODc.504C= (p.Leu168=)
c.603C= (p.Leu201=)
c.651C= (p.Leu217=)
c.588C= (p.Leu196=)
n.729C=
16g.20348797G>TCA279299954UMODc.504C>A (p.Leu168=)
c.603C>A (p.Leu201=)
c.651C>A (p.Leu217=)
c.588C>A (p.Leu196=)
n.729C>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348798A>CCA394985681UMODc.503T>G (p.Leu168Arg)
c.602T>G (p.Leu201Arg)
c.650T>G (p.Leu217Arg)
c.587T>G (p.Leu196Arg)
n.728T>G
16g.20348798A>GCA394985684UMODc.503T>C (p.Leu168Pro)
c.602T>C (p.Leu201Pro)
c.650T>C (p.Leu217Pro)
c.587T>C (p.Leu196Pro)
n.728T>C
 ClinVar dbSNP gnomAD v4
16g.20348798A>TCA394985686UMODc.503T>A (p.Leu168His)
c.602T>A (p.Leu201His)
c.650T>A (p.Leu217His)
c.587T>A (p.Leu196His)
n.728T>A
16g.20348799G>ACA394985693UMODc.502C>T (p.Leu168Phe)
c.601C>T (p.Leu201Phe)
c.649C>T (p.Leu217Phe)
c.586C>T (p.Leu196Phe)
n.727C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348799G>CCA7939443UMODc.502C>G (p.Leu168Val)
c.601C>G (p.Leu201Val)
c.649C>G (p.Leu217Val)
c.586C>G (p.Leu196Val)
n.727C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348799G=CA2211942753UMODc.502C= (p.Leu168=)
c.601C= (p.Leu201=)
c.649C= (p.Leu217=)
c.586C= (p.Leu196=)
n.727C=
16g.20348799G>TCA394985689UMODc.502C>A (p.Leu168Ile)
c.601C>A (p.Leu201Ile)
c.649C>A (p.Leu217Ile)
c.586C>A (p.Leu196Ile)
n.727C>A
 gnomAD v4 COSMIC COSMIC
16g.20348800C>ACA494097127UMODc.501G>T (p.Ala167=)
c.600G>T (p.Ala200=)
c.648G>T (p.Ala216=)
c.585G>T (p.Ala195=)
n.726G>T
 gnomAD v4
16g.20348800C>GCA494097129UMODc.501G>C (p.Ala167=)
c.600G>C (p.Ala200=)
c.648G>C (p.Ala216=)
c.585G>C (p.Ala195=)
n.726G>C
16g.20348800C>TCA494097130UMODc.501G>A (p.Ala167=)
c.600G>A (p.Ala200=)
c.648G>A (p.Ala216=)
c.585G>A (p.Ala195=)
n.726G>A
 gnomAD v4
16g.20348801G>ACA394985699UMODc.500C>T (p.Ala167Val)
c.599C>T (p.Ala200Val)
c.647C>T (p.Ala216Val)
c.584C>T (p.Ala195Val)
n.725C>T
16g.20348801G>CCA394985700UMODc.500C>G (p.Ala167Gly)
c.599C>G (p.Ala200Gly)
c.647C>G (p.Ala216Gly)
c.584C>G (p.Ala195Gly)
n.725C>G
16g.20348801G=CA2211942758UMODc.500C= (p.Ala167=)
c.599C= (p.Ala200=)
c.647C= (p.Ala216=)
c.584C= (p.Ala195=)
n.725C=
16g.20348801G>TCA394985702UMODc.500C>A (p.Ala167Glu)
c.599C>A (p.Ala200Glu)
c.647C>A (p.Ala216Glu)
c.584C>A (p.Ala195Glu)
n.725C>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348802C>ACA279299961UMODc.499G>T (p.Ala167Ser)
c.598G>T (p.Ala200Ser)
c.646G>T (p.Ala216Ser)
c.583G>T (p.Ala195Ser)
n.724G>T
 dbSNP gnomAD v3 gnomAD v4
16g.20348802C=CA2211942765UMODc.499G= (p.Ala167=)
c.598G= (p.Ala200=)
c.646G= (p.Ala216=)
c.583G= (p.Ala195=)
n.724G=
16g.20348802C>GCA394985704UMODc.499G>C (p.Ala167Pro)
c.598G>C (p.Ala200Pro)
c.646G>C (p.Ala216Pro)
c.583G>C (p.Ala195Pro)
n.724G>C
16g.20348802C>TCA394985706UMODc.499G>A (p.Ala167Thr)
c.598G>A (p.Ala200Thr)
c.646G>A (p.Ala216Thr)
c.583G>A (p.Ala195Thr)
n.724G>A
 dbSNP gnomAD v4
16g.20348803G>ACA494097132UMODc.498C>T (p.Asp166=)
c.597C>T (p.Asp199=)
c.645C>T (p.Asp215=)
c.582C>T (p.Asp194=)
n.723C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348803G>CCA394985711UMODc.498C>G (p.Asp166Glu)
c.597C>G (p.Asp199Glu)
c.645C>G (p.Asp215Glu)
c.582C>G (p.Asp194Glu)
n.723C>G
16g.20348803G=CA2211942767UMODc.498C= (p.Asp166=)
c.597C= (p.Asp199=)
c.645C= (p.Asp215=)
c.582C= (p.Asp194=)
n.723C=
16g.20348803G>TCA394985708UMODc.498C>A (p.Asp166Glu)
c.597C>A (p.Asp199Glu)
c.645C>A (p.Asp215Glu)
c.582C>A (p.Asp194Glu)
n.723C>A
 gnomAD v4
16g.20348804_20348814delCA2580090852UMODc.488_498del (p.Pro163ArgfsTer?)
c.587_597del (p.Pro196ArgfsTer?)
c.635_645del (p.Pro212ArgfsTer?)
c.572_582del (p.Pro191ArgfsTer?)
n.713_723del
 ClinVar
16g.20348804T>ACA394985713UMODc.497A>T (p.Asp166Val)
c.596A>T (p.Asp199Val)
c.644A>T (p.Asp215Val)
c.581A>T (p.Asp194Val)
n.722A>T
16g.20348804T>CCA394985714UMODc.497A>G (p.Asp166Gly)
c.596A>G (p.Asp199Gly)
c.644A>G (p.Asp215Gly)
c.581A>G (p.Asp194Gly)
n.722A>G
16g.20348804T>GCA394985716UMODc.497A>C (p.Asp166Ala)
c.596A>C (p.Asp199Ala)
c.644A>C (p.Asp215Ala)
c.581A>C (p.Asp194Ala)
n.722A>C
16g.20348805C>ACA394985718UMODc.496G>T (p.Asp166Tyr)
c.595G>T (p.Asp199Tyr)
c.643G>T (p.Asp215Tyr)
c.580G>T (p.Asp194Tyr)
n.721G>T
 gnomAD v4
16g.20348805C>GCA394985719UMODc.496G>C (p.Asp166His)
c.595G>C (p.Asp199His)
c.643G>C (p.Asp215His)
c.580G>C (p.Asp194His)
n.721G>C
16g.20348805C>TCA394985720UMODc.496G>A (p.Asp166Asn)
c.595G>A (p.Asp199Asn)
c.643G>A (p.Asp215Asn)
c.580G>A (p.Asp194Asn)
n.721G>A
 gnomAD v4 COSMIC COSMIC
16g.20348806G>ACA494097136UMODc.495C>T (p.Gly165=)
c.594C>T (p.Gly198=)
c.642C>T (p.Gly214=)
c.579C>T (p.Gly193=)
n.720C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.20348806G>CCA494097137UMODc.495C>G (p.Gly165=)
c.594C>G (p.Gly198=)
c.642C>G (p.Gly214=)
c.579C>G (p.Gly193=)
n.720C>G
16g.20348806G=CA2211942770UMODc.495C= (p.Gly165=)
c.594C= (p.Gly198=)
c.642C= (p.Gly214=)
c.579C= (p.Gly193=)
n.720C=
16g.20348806G>TCA494097138UMODc.495C>A (p.Gly165=)
c.594C>A (p.Gly198=)
c.642C>A (p.Gly214=)
c.579C>A (p.Gly193=)
n.720C>A
 gnomAD v4
16g.20348807C>ACA394985725UMODc.494G>T (p.Gly165Val)
c.593G>T (p.Gly198Val)
c.641G>T (p.Gly214Val)
c.578G>T (p.Gly193Val)
n.719G>T
 gnomAD v4
16g.20348807C=CA2211942776UMODc.494G= (p.Gly165=)
c.593G= (p.Gly198=)
c.641G= (p.Gly214=)
c.578G= (p.Gly193=)
n.719G=
16g.20348807C>GCA394985722UMODc.494G>C (p.Gly165Ala)
c.593G>C (p.Gly198Ala)
c.641G>C (p.Gly214Ala)
c.578G>C (p.Gly193Ala)
n.719G>C
16g.20348807C>TCA394985723UMODc.494G>A (p.Gly165Asp)
c.593G>A (p.Gly198Asp)
c.641G>A (p.Gly214Asp)
c.578G>A (p.Gly193Asp)
n.719G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348809delCA2632115505UMODc.494del (p.Gly165AlafsTer?)
c.593del (p.Gly198AlafsTer?)
c.641del (p.Gly214AlafsTer?)
c.578del (p.Gly193AlafsTer?)
n.719del
 gnomAD v4
16g.20348808C>ACA394985727UMODc.493G>T (p.Gly165Cys)
c.592G>T (p.Gly198Cys)
c.640G>T (p.Gly214Cys)
c.577G>T (p.Gly193Cys)
n.718G>T
 gnomAD v4
16g.20348808C>GCA394985732UMODc.493G>C (p.Gly165Arg)
c.592G>C (p.Gly198Arg)
c.640G>C (p.Gly214Arg)
c.577G>C (p.Gly193Arg)
n.718G>C
16g.20348808C>TCA394985733UMODc.493G>A (p.Gly165Ser)
c.592G>A (p.Gly198Ser)
c.640G>A (p.Gly214Ser)
c.577G>A (p.Gly193Ser)
n.718G>A
16g.20348808_20348809insGCA2571368313UMODc.492_493insC (p.Gly165ArgfsTer?)
c.591_592insC (p.Gly198ArgfsTer?)
c.639_640insC (p.Gly214ArgfsTer?)
c.576_577insC (p.Gly193ArgfsTer?)
n.717_718insC
16g.20348809C>ACA394985736UMODc.492G>T (p.Glu164Asp)
c.591G>T (p.Glu197Asp)
c.639G>T (p.Glu213Asp)
c.576G>T (p.Glu192Asp)
n.717G>T
 gnomAD v4
16g.20348809C>GCA394985737UMODc.492G>C (p.Glu164Asp)
c.591G>C (p.Glu197Asp)
c.639G>C (p.Glu213Asp)
c.576G>C (p.Glu192Asp)
n.717G>C
16g.20348809C>TCA494097142UMODc.492G>A (p.Glu164=)
c.591G>A (p.Glu197=)
c.639G>A (p.Glu213=)
c.576G>A (p.Glu192=)
n.717G>A
 gnomAD v4
16g.20348810T>ACA394985740UMODc.491A>T (p.Glu164Val)
c.590A>T (p.Glu197Val)
c.638A>T (p.Glu213Val)
c.575A>T (p.Glu192Val)
n.716A>T
16g.20348810T>CCA394985741UMODc.491A>G (p.Glu164Gly)
c.590A>G (p.Glu197Gly)
c.638A>G (p.Glu213Gly)
c.575A>G (p.Glu192Gly)
n.716A>G
16g.20348810T>GCA394985744UMODc.491A>C (p.Glu164Ala)
c.590A>C (p.Glu197Ala)
c.638A>C (p.Glu213Ala)
c.575A>C (p.Glu192Ala)
n.716A>C
16g.20348811delCA2530764164UMODc.490del (p.Glu164ArgfsTer?)
c.589del (p.Glu197ArgfsTer?)
c.637del (p.Glu213ArgfsTer?)
c.574del (p.Glu192ArgfsTer?)
n.715del
16g.20348811C>ACA16040624UMODc.490G>T (p.Glu164Ter)
c.589G>T (p.Glu197Ter)
c.637G>T (p.Glu213Ter)
c.574G>T (p.Glu192Ter)
n.715G>T
 ClinVar dbSNP
16g.20348811C=CA2211942784UMODc.490G= (p.Glu164=)
c.589G= (p.Glu197=)
c.637G= (p.Glu213=)
c.574G= (p.Glu192=)
n.715G=
16g.20348811C>GCA394985747UMODc.490G>C (p.Glu164Gln)
c.589G>C (p.Glu197Gln)
c.637G>C (p.Glu213Gln)
c.574G>C (p.Glu192Gln)
n.715G>C
 COSMIC COSMIC
16g.20348811C>TCA394985755UMODc.490G>A (p.Glu164Lys)
c.589G>A (p.Glu197Lys)
c.637G>A (p.Glu213Lys)
c.574G>A (p.Glu192Lys)
n.715G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348812G>ACA279299971UMODc.489C>T (p.Pro163=)
c.588C>T (p.Pro196=)
c.636C>T (p.Pro212=)
c.573C>T (p.Pro191=)
n.714C>T
 ClinVar dbSNP gnomAD v4
16g.20348812G>CCA494097148UMODc.489C>G (p.Pro163=)
c.588C>G (p.Pro196=)
c.636C>G (p.Pro212=)
c.573C>G (p.Pro191=)
n.714C>G
 dbSNP gnomAD v2 gnomAD v4
16g.20348812G=CA2211942792UMODc.489C= (p.Pro163=)
c.588C= (p.Pro196=)
c.636C= (p.Pro212=)
c.573C= (p.Pro191=)
n.714C=
16g.20348812G>TCA494097147UMODc.489C>A (p.Pro163=)
c.588C>A (p.Pro196=)
c.636C>A (p.Pro212=)
c.573C>A (p.Pro191=)
n.714C>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348814delCA2632115506UMODc.489del (p.Glu164ArgfsTer?)
c.588del (p.Glu197ArgfsTer?)
c.636del (p.Glu213ArgfsTer?)
c.573del (p.Glu192ArgfsTer?)
n.714del
 gnomAD v4
16g.20348813G>ACA7939444UMODc.488C>T (p.Pro163Leu)
c.587C>T (p.Pro196Leu)
c.635C>T (p.Pro212Leu)
c.572C>T (p.Pro191Leu)
n.713C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348813G>CCA394985758UMODc.488C>G (p.Pro163Arg)
c.587C>G (p.Pro196Arg)
c.635C>G (p.Pro212Arg)
c.572C>G (p.Pro191Arg)
n.713C>G
16g.20348813G=CA2211942800UMODc.488C= (p.Pro163=)
c.587C= (p.Pro196=)
c.635C= (p.Pro212=)
c.572C= (p.Pro191=)
n.713C=
16g.20348813G>TCA394985759UMODc.488C>A (p.Pro163His)
c.587C>A (p.Pro196His)
c.635C>A (p.Pro212His)
c.572C>A (p.Pro191His)
n.713C>A
 gnomAD v4
16g.20348814G>ACA394985763UMODc.487C>T (p.Pro163Ser)
c.586C>T (p.Pro196Ser)
c.634C>T (p.Pro212Ser)
c.571C>T (p.Pro191Ser)
n.712C>T
 gnomAD v4
16g.20348814G>CCA394985766UMODc.487C>G (p.Pro163Ala)
c.586C>G (p.Pro196Ala)
c.634C>G (p.Pro212Ala)
c.571C>G (p.Pro191Ala)
n.712C>G
16g.20348814G=CA2211942807UMODc.487C= (p.Pro163=)
c.586C= (p.Pro196=)
c.634C= (p.Pro212=)
c.571C= (p.Pro191=)
n.712C=
16g.20348814G>TCA394985764UMODc.487C>A (p.Pro163Thr)
c.586C>A (p.Pro196Thr)
c.634C>A (p.Pro212Thr)
c.571C>A (p.Pro191Thr)
n.712C>A
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched