Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.6291264_6291267dupCA2580616070WFS1c.528_531dup (p.Lys178AlafsTer?)
c.518_521dup
c.279_282dup (p.Lys95AlafsTer?)
c.327_330dup (p.Lys111AlafsTer?)
c.402_405dup (p.Lys136AlafsTer?)
c.125_128dup
n.713_716dup
c.537_540dup (p.Lys181AlafsTer?)
ClinVar dbSNP
4g.6291267C>ACA438210965WFS1c.531C>A (p.Arg177=)
c.521C>A
c.282C>A (p.Arg94=)
c.330C>A (p.Arg110=)
c.405C>A (p.Arg135=)
c.128C>A
n.716C>A
c.540C>A (p.Arg180=)
4g.6291267C>GCA438210966WFS1c.531C>G (p.Arg177=)
c.521C>G
c.282C>G (p.Arg94=)
c.330C>G (p.Arg110=)
c.405C>G (p.Arg135=)
c.128C>G
n.716C>G
c.540C>G (p.Arg180=)
4g.6291267C>TCA438210967WFS1c.531C>T (p.Arg177=)
c.521C>T
c.282C>T (p.Arg94=)
c.330C>T (p.Arg110=)
c.405C>T (p.Arg135=)
c.128C>T
n.716C>T
c.540C>T (p.Arg180=)
4g.6291268A>CCA356171973WFS1c.532A>C (p.Lys178Gln)
c.522A>C
c.283A>C (p.Lys95Gln)
c.331A>C (p.Lys111Gln)
c.406A>C (p.Lys136Gln)
c.129A>C
n.717A>C
c.541A>C (p.Lys181Gln)
4g.6291268A>GCA356171972WFS1c.532A>G (p.Lys178Glu)
c.522A>G
c.283A>G (p.Lys95Glu)
c.331A>G (p.Lys111Glu)
c.406A>G (p.Lys136Glu)
c.129A>G
n.717A>G
c.541A>G (p.Lys181Glu)
4g.6291268A>TCA356171971WFS1c.532A>T (p.Lys178Ter)
c.522A>T
c.283A>T (p.Lys95Ter)
c.331A>T (p.Lys111Ter)
c.406A>T (p.Lys136Ter)
c.129A>T
n.717A>T
c.541A>T (p.Lys181Ter)
4g.6291268_6291273delCA2586973594WFS1c.532_537del (p.Lys178_Ala179del)
c.522_527del
c.283_288del (p.Lys95_Ala96del)
c.331_336del (p.Lys111_Ala112del)
c.406_411del (p.Lys136_Ala137del)
c.129_134del
n.717_722del
c.541_546del (p.Lys181_Ala182del)
4g.6291269A>CCA356171974WFS1c.533A>C (p.Lys178Thr)
c.523A>C
c.284A>C (p.Lys95Thr)
c.332A>C (p.Lys111Thr)
c.407A>C (p.Lys136Thr)
c.130A>C
n.718A>C
c.542A>C (p.Lys181Thr)
4g.6291269A>GCA356171975WFS1c.533A>G (p.Lys178Arg)
c.523A>G
c.284A>G (p.Lys95Arg)
c.332A>G (p.Lys111Arg)
c.407A>G (p.Lys136Arg)
c.130A>G
n.718A>G
c.542A>G (p.Lys181Arg)
4g.6291269A>TCA356171976WFS1c.533A>T (p.Lys178Met)
c.523A>T
c.284A>T (p.Lys95Met)
c.332A>T (p.Lys111Met)
c.407A>T (p.Lys136Met)
c.130A>T
n.718A>T
c.542A>T (p.Lys181Met)
4g.6291269_6291274delCA2586973595WFS1c.533_538del (p.Lys178_Ala180delinsThr)
c.523_528del
c.284_289del (p.Lys95_Ala97delinsThr)
c.332_337del (p.Lys111_Ala113delinsThr)
c.407_412del (p.Lys136_Ala138delinsThr)
c.130_135del
n.718_723del
c.542_547del (p.Lys181_Ala183delinsThr)
4g.6291270G>ACA438210968WFS1c.534G>A (p.Lys178=)
c.524G>A
c.285G>A (p.Lys95=)
c.333G>A (p.Lys111=)
c.408G>A (p.Lys136=)
c.131G>A
n.719G>A
c.543G>A (p.Lys181=)
4g.6291270G>CCA356171977WFS1c.534G>C (p.Lys178Asn)
c.524G>C
c.285G>C (p.Lys95Asn)
c.333G>C (p.Lys111Asn)
c.408G>C (p.Lys136Asn)
c.131G>C
n.719G>C
c.543G>C (p.Lys181Asn)
4g.6291270G>TCA356171978WFS1c.534G>T (p.Lys178Asn)
c.524G>T
c.285G>T (p.Lys95Asn)
c.333G>T (p.Lys111Asn)
c.408G>T (p.Lys136Asn)
c.131G>T
n.719G>T
c.543G>T (p.Lys181Asn)
4g.6291271G>ACA2838932WFS1c.535G>A (p.Ala179Thr)
c.525G>A
c.286G>A (p.Ala96Thr)
c.334G>A (p.Ala112Thr)
c.409G>A (p.Ala137Thr)
c.132G>A
n.720G>A
c.544G>A (p.Ala182Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6291271G>CCA356171980WFS1c.535G>C (p.Ala179Pro)
c.525G>C
c.286G>C (p.Ala96Pro)
c.334G>C (p.Ala112Pro)
c.409G>C (p.Ala137Pro)
c.132G>C
n.720G>C
c.544G>C (p.Ala182Pro)
4g.6291271G=CA1435768597WFS1c.535G= (p.Ala179=)
c.525G=
c.286G= (p.Ala96=)
c.334G= (p.Ala112=)
c.409G= (p.Ala137=)
c.132G=
n.720G=
c.544G= (p.Ala182=)
4g.6291271G>TCA356171979WFS1c.535G>T (p.Ala179Ser)
c.525G>T
c.286G>T (p.Ala96Ser)
c.334G>T (p.Ala112Ser)
c.409G>T (p.Ala137Ser)
c.132G>T
n.720G>T
c.544G>T (p.Ala182Ser)
4g.6291272C>ACA356171981WFS1c.536C>A (p.Ala179Glu)
c.526C>A
c.287C>A (p.Ala96Glu)
c.335C>A (p.Ala112Glu)
c.410C>A (p.Ala137Glu)
c.133C>A
n.721C>A
c.545C>A (p.Ala182Glu)
4g.6291272C>GCA356171982WFS1c.536C>G (p.Ala179Gly)
c.526C>G
c.287C>G (p.Ala96Gly)
c.335C>G (p.Ala112Gly)
c.410C>G (p.Ala137Gly)
c.133C>G
n.721C>G
c.545C>G (p.Ala182Gly)
4g.6291272C>TCA356171983WFS1c.536C>T (p.Ala179Val)
c.526C>T
c.287C>T (p.Ala96Val)
c.335C>T (p.Ala112Val)
c.410C>T (p.Ala137Val)
c.133C>T
n.721C>T
c.545C>T (p.Ala182Val)
gnomAD v4
4g.6291273A=CA1435768598WFS1c.537A= (p.Ala179=)
c.527A=
c.288A= (p.Ala96=)
c.336A= (p.Ala112=)
c.411A= (p.Ala137=)
c.134A=
n.722A=
c.546A= (p.Ala182=)
4g.6291273A>CCA438210969WFS1c.537A>C (p.Ala179=)
c.527A>C
c.288A>C (p.Ala96=)
c.336A>C (p.Ala112=)
c.411A>C (p.Ala137=)
c.134A>C
n.722A>C
c.546A>C (p.Ala182=)
dbSNP gnomAD v4
4g.6291273A>GCA438210970WFS1c.537A>G (p.Ala179=)
c.527A>G
c.288A>G (p.Ala96=)
c.336A>G (p.Ala112=)
c.411A>G (p.Ala137=)
c.134A>G
n.722A>G
c.546A>G (p.Ala182=)
4g.6291273A>TCA438210971WFS1c.537A>T (p.Ala179=)
c.527A>T
c.288A>T (p.Ala96=)
c.336A>T (p.Ala112=)
c.411A>T (p.Ala137=)
c.134A>T
n.722A>T
c.546A>T (p.Ala182=)
4g.6291274G>ACA356171984WFS1c.538G>A (p.Ala180Thr)
c.528G>A
c.289G>A (p.Ala97Thr)
c.337G>A (p.Ala113Thr)
c.412G>A (p.Ala138Thr)
c.135G>A
n.723G>A
c.547G>A (p.Ala183Thr)
4g.6291274G>CCA356171985WFS1c.538G>C (p.Ala180Pro)
c.528G>C
c.289G>C (p.Ala97Pro)
c.337G>C (p.Ala113Pro)
c.412G>C (p.Ala138Pro)
c.135G>C
n.723G>C
c.547G>C (p.Ala183Pro)
4g.6291274G>TCA356171986WFS1c.538G>T (p.Ala180Ser)
c.528G>T
c.289G>T (p.Ala97Ser)
c.337G>T (p.Ala113Ser)
c.412G>T (p.Ala138Ser)
c.135G>T
n.723G>T
c.547G>T (p.Ala183Ser)
4g.6291275C>ACA91794575WFS1c.539C>A (p.Ala180Asp)
c.529C>A
c.290C>A (p.Ala97Asp)
c.338C>A (p.Ala113Asp)
c.413C>A (p.Ala138Asp)
c.136C>A
n.724C>A
c.548C>A (p.Ala183Asp)
dbSNP
4g.6291275C=CA1435768599WFS1c.539C= (p.Ala180=)
c.529C=
c.290C= (p.Ala97=)
c.338C= (p.Ala113=)
c.413C= (p.Ala138=)
c.136C=
n.724C=
c.548C= (p.Ala183=)
4g.6291275C>GCA356171988WFS1c.539C>G (p.Ala180Gly)
c.529C>G
c.290C>G (p.Ala97Gly)
c.338C>G (p.Ala113Gly)
c.413C>G (p.Ala138Gly)
c.136C>G
n.724C>G
c.548C>G (p.Ala183Gly)
4g.6291275C>TCA356171987WFS1c.539C>T (p.Ala180Val)
c.529C>T
c.290C>T (p.Ala97Val)
c.338C>T (p.Ala113Val)
c.413C>T (p.Ala138Val)
c.136C>T
n.724C>T
c.548C>T (p.Ala183Val)
4g.6291276C>ACA438210972WFS1c.540C>A (p.Ala180=)
c.530C>A
c.291C>A (p.Ala97=)
c.339C>A (p.Ala113=)
c.414C>A (p.Ala138=)
c.137C>A
n.725C>A
c.549C>A (p.Ala183=)
4g.6291276C=CA1435768600WFS1c.540C= (p.Ala180=)
c.530C=
c.291C= (p.Ala97=)
c.339C= (p.Ala113=)
c.414C= (p.Ala138=)
c.137C=
n.725C=
c.549C= (p.Ala183=)
4g.6291276C>GCA438210974WFS1c.540C>G (p.Ala180=)
c.530C>G
c.291C>G (p.Ala97=)
c.339C>G (p.Ala113=)
c.414C>G (p.Ala138=)
c.137C>G
n.725C>G
c.549C>G (p.Ala183=)
4g.6291276C>TCA438210973WFS1c.540C>T (p.Ala180=)
c.530C>T
c.291C>T (p.Ala97=)
c.339C>T (p.Ala113=)
c.414C>T (p.Ala138=)
c.137C>T
n.725C>T
c.549C>T (p.Ala183=)
dbSNP gnomAD v2 gnomAD v4
4g.6291277C>ACA356171989WFS1c.541C>A (p.Leu181Met)
c.531C>A
c.292C>A (p.Leu98Met)
c.340C>A (p.Leu114Met)
c.415C>A (p.Leu139Met)
c.138C>A
n.726C>A
c.550C>A (p.Leu184Met)
4g.6291277C=CA1435768601WFS1c.541C= (p.Leu181=)
c.531C=
c.292C= (p.Leu98=)
c.340C= (p.Leu114=)
c.415C= (p.Leu139=)
c.138C=
n.726C=
c.550C= (p.Leu184=)
4g.6291277C>GCA356171990WFS1c.541C>G (p.Leu181Val)
c.531C>G
c.292C>G (p.Leu98Val)
c.340C>G (p.Leu114Val)
c.415C>G (p.Leu139Val)
c.138C>G
n.726C>G
c.550C>G (p.Leu184Val)
4g.6291277C>TCA2838933WFS1c.541C>T (p.Leu181=)
c.531C>T
c.292C>T (p.Leu98=)
c.340C>T (p.Leu114=)
c.415C>T (p.Leu139=)
c.138C>T
n.726C>T
c.550C>T (p.Leu184=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6291278T>ACA356171991WFS1c.542T>A (p.Leu181Gln)
c.532T>A
c.293T>A (p.Leu98Gln)
c.341T>A (p.Leu114Gln)
c.416T>A (p.Leu139Gln)
c.139T>A
n.727T>A
c.551T>A (p.Leu184Gln)
gnomAD v4
4g.6291278T>CCA356171992WFS1c.542T>C (p.Leu181Pro)
c.532T>C
c.293T>C (p.Leu98Pro)
c.341T>C (p.Leu114Pro)
c.416T>C (p.Leu139Pro)
c.139T>C
n.727T>C
c.551T>C (p.Leu184Pro)
gnomAD v4
4g.6291278T>GCA356171993WFS1c.542T>G (p.Leu181Arg)
c.532T>G
c.293T>G (p.Leu98Arg)
c.341T>G (p.Leu114Arg)
c.416T>G (p.Leu139Arg)
c.139T>G
n.727T>G
c.551T>G (p.Leu184Arg)
4g.6291279G>ACA438210975WFS1c.543G>A (p.Leu181=)
c.533G>A
c.294G>A (p.Leu98=)
c.342G>A (p.Leu114=)
c.417G>A (p.Leu139=)
c.140G>A
n.728G>A
c.552G>A (p.Leu184=)
gnomAD v4
4g.6291279G>CCA2838934WFS1c.543G>C (p.Leu181=)
c.533G>C
c.294G>C (p.Leu98=)
c.342G>C (p.Leu114=)
c.417G>C (p.Leu139=)
c.140G>C
n.728G>C
c.552G>C (p.Leu184=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6291279G=CA1435768602WFS1c.543G= (p.Leu181=)
c.533G=
c.294G= (p.Leu98=)
c.342G= (p.Leu114=)
c.417G= (p.Leu139=)
c.140G=
n.728G=
c.552G= (p.Leu184=)
4g.6291279G>TCA438210976WFS1c.543G>T (p.Leu181=)
c.533G>T
c.294G>T (p.Leu98=)
c.342G>T (p.Leu114=)
c.417G>T (p.Leu139=)
c.140G>T
n.728G>T
c.552G>T (p.Leu184=)
4g.6291280G>ACA356171994WFS1c.544G>A (p.Val182Ile)
c.534G>A
c.295G>A (p.Val99Ile)
c.343G>A (p.Val115Ile)
c.418G>A (p.Val140Ile)
c.141G>A
n.729G>A
c.553G>A (p.Val185Ile)
4g.6291280G>CCA356171995WFS1c.544G>C (p.Val182Leu)
c.534G>C
c.295G>C (p.Val99Leu)
c.343G>C (p.Val115Leu)
c.418G>C (p.Val140Leu)
c.141G>C
n.729G>C
c.553G>C (p.Val185Leu)
4g.6291280G>TCA356171996WFS1c.544G>T (p.Val182Phe)
c.534G>T
c.295G>T (p.Val99Phe)
c.343G>T (p.Val115Phe)
c.418G>T (p.Val140Phe)
c.141G>T
n.729G>T
c.553G>T (p.Val185Phe)
4g.6291281T>ACA356171999WFS1c.545T>A (p.Val182Asp)
c.535T>A
c.296T>A (p.Val99Asp)
c.344T>A (p.Val115Asp)
c.419T>A (p.Val140Asp)
c.142T>A
n.730T>A
c.554T>A (p.Val185Asp)
4g.6291281T>CCA356171998WFS1c.545T>C (p.Val182Ala)
c.535T>C
c.296T>C (p.Val99Ala)
c.344T>C (p.Val115Ala)
c.419T>C (p.Val140Ala)
c.142T>C
n.730T>C
c.554T>C (p.Val185Ala)
4g.6291281T>GCA356171997WFS1c.545T>G (p.Val182Gly)
c.535T>G
c.296T>G (p.Val99Gly)
c.344T>G (p.Val115Gly)
c.419T>G (p.Val140Gly)
c.142T>G
n.730T>G
c.554T>G (p.Val185Gly)
4g.6291282C>ACA438210977WFS1c.546C>A (p.Val182=)
c.536C>A
c.297C>A (p.Val99=)
c.345C>A (p.Val115=)
c.420C>A (p.Val140=)
c.143C>A
n.731C>A
c.555C>A (p.Val185=)
gnomAD v4
4g.6291282C=CA1435768603WFS1c.546C= (p.Val182=)
c.536C=
c.297C= (p.Val99=)
c.345C= (p.Val115=)
c.420C= (p.Val140=)
c.143C=
n.731C=
c.555C= (p.Val185=)
4g.6291282C>GCA438210978WFS1c.546C>G (p.Val182=)
c.536C>G
c.297C>G (p.Val99=)
c.345C>G (p.Val115=)
c.420C>G (p.Val140=)
c.143C>G
n.731C>G
c.555C>G (p.Val185=)
4g.6291282C>TCA438210979WFS1c.546C>T (p.Val182=)
c.536C>T
c.297C>T (p.Val99=)
c.345C>T (p.Val115=)
c.420C>T (p.Val140=)
c.143C>T
n.731C>T
c.555C>T (p.Val185=)
dbSNP gnomAD v3 gnomAD v4
4g.6291283A=CA1435768604WFS1c.547A= (p.Met183=)
c.537A=
c.298A= (p.Met100=)
c.346A= (p.Met116=)
c.421A= (p.Met141=)
c.144A=
n.732A=
c.556A= (p.Met186=)
4g.6291283A>CCA356172000WFS1c.547A>C (p.Met183Leu)
c.537A>C
c.298A>C (p.Met100Leu)
c.346A>C (p.Met116Leu)
c.421A>C (p.Met141Leu)
c.144A>C
n.732A>C
c.556A>C (p.Met186Leu)
4g.6291283A>GCA356172002WFS1c.547A>G (p.Met183Val)
c.537A>G
c.298A>G (p.Met100Val)
c.346A>G (p.Met116Val)
c.421A>G (p.Met141Val)
c.144A>G
n.732A>G
c.556A>G (p.Met186Val)
dbSNP gnomAD v3 gnomAD v4
4g.6291283A>TCA356172001WFS1c.547A>T (p.Met183Leu)
c.537A>T
c.298A>T (p.Met100Leu)
c.346A>T (p.Met116Leu)
c.421A>T (p.Met141Leu)
c.144A>T
n.732A>T
c.556A>T (p.Met186Leu)
4g.6291284T>ACA356172003WFS1c.548T>A (p.Met183Lys)
c.538T>A
c.299T>A (p.Met100Lys)
c.347T>A (p.Met116Lys)
c.422T>A (p.Met141Lys)
c.145T>A
n.733T>A
c.557T>A (p.Met186Lys)
4g.6291284T>CCA91794576WFS1c.548T>C (p.Met183Thr)
c.538T>C
c.299T>C (p.Met100Thr)
c.347T>C (p.Met116Thr)
c.422T>C (p.Met141Thr)
c.145T>C
n.733T>C
c.557T>C (p.Met186Thr)
dbSNP gnomAD v4
4g.6291284T>GCA356172004WFS1c.548T>G (p.Met183Arg)
c.538T>G
c.299T>G (p.Met100Arg)
c.347T>G (p.Met116Arg)
c.422T>G (p.Met141Arg)
c.145T>G
n.733T>G
c.557T>G (p.Met186Arg)
4g.6291284T=CA1435768605WFS1c.548T= (p.Met183=)
c.538T=
c.299T= (p.Met100=)
c.347T= (p.Met116=)
c.422T= (p.Met141=)
c.145T=
n.733T=
c.557T= (p.Met186=)
4g.6291285G>ACA356172005WFS1c.549G>A (p.Met183Ile)
c.539G>A
c.300G>A (p.Met100Ile)
c.348G>A (p.Met116Ile)
c.423G>A (p.Met141Ile)
c.146G>A
n.734G>A
c.558G>A (p.Met186Ile)
dbSNP gnomAD v3 gnomAD v4
4g.6291285G>CCA356172006WFS1c.549G>C (p.Met183Ile)
c.539G>C
c.300G>C (p.Met100Ile)
c.348G>C (p.Met116Ile)
c.423G>C (p.Met141Ile)
c.146G>C
n.734G>C
c.558G>C (p.Met186Ile)
4g.6291285G=CA1435768606WFS1c.549G= (p.Met183=)
c.539G=
c.300G= (p.Met100=)
c.348G= (p.Met116=)
c.423G= (p.Met141=)
c.146G=
n.734G=
c.558G= (p.Met186=)
4g.6291285G>TCA356172007WFS1c.549G>T (p.Met183Ile)
c.539G>T
c.300G>T (p.Met100Ile)
c.348G>T (p.Met116Ile)
c.423G>T (p.Met141Ile)
c.146G>T
n.734G>T
c.558G>T (p.Met186Ile)
4g.6291286T>ACA356172008WFS1c.550T>A (p.Tyr184Asn)
c.540T>A
c.301T>A (p.Tyr101Asn)
c.349T>A (p.Tyr117Asn)
c.424T>A (p.Tyr142Asn)
c.147T>A
n.735T>A
c.559T>A (p.Tyr187Asn)
4g.6291286T>CCA356172009WFS1c.550T>C (p.Tyr184His)
c.540T>C
c.301T>C (p.Tyr101His)
c.349T>C (p.Tyr117His)
c.424T>C (p.Tyr142His)
c.147T>C
n.735T>C
c.559T>C (p.Tyr187His)
4g.6291286T>GCA356172010WFS1c.550T>G (p.Tyr184Asp)
c.540T>G
c.301T>G (p.Tyr101Asp)
c.349T>G (p.Tyr117Asp)
c.424T>G (p.Tyr142Asp)
c.147T>G
n.735T>G
c.559T>G (p.Tyr187Asp)
4g.6291287A>CCA356172011WFS1c.551A>C (p.Tyr184Ser)
c.541A>C
c.302A>C (p.Tyr101Ser)
c.350A>C (p.Tyr117Ser)
c.425A>C (p.Tyr142Ser)
c.148A>C
n.736A>C
c.560A>C (p.Tyr187Ser)
4g.6291287A>GCA356172012WFS1c.551A>G (p.Tyr184Cys)
c.541A>G
c.302A>G (p.Tyr101Cys)
c.350A>G (p.Tyr117Cys)
c.425A>G (p.Tyr142Cys)
c.148A>G
n.736A>G
c.560A>G (p.Tyr187Cys)
4g.6291287A>TCA356172013WFS1c.551A>T (p.Tyr184Phe)
c.541A>T
c.302A>T (p.Tyr101Phe)
c.350A>T (p.Tyr117Phe)
c.425A>T (p.Tyr142Phe)
c.148A>T
n.736A>T
c.560A>T (p.Tyr187Phe)
gnomAD v4
4g.6291288C>ACA356172014WFS1c.552C>A (p.Tyr184Ter)
c.542C>A
c.303C>A (p.Tyr101Ter)
c.351C>A (p.Tyr117Ter)
c.426C>A (p.Tyr142Ter)
c.149C>A
n.737C>A
c.561C>A (p.Tyr187Ter)
4g.6291288C=CA1435768607WFS1c.552C= (p.Tyr184=)
c.542C=
c.303C= (p.Tyr101=)
c.351C= (p.Tyr117=)
c.426C= (p.Tyr142=)
c.149C=
n.737C=
c.561C= (p.Tyr187=)
4g.6291288C>GCA2838935WFS1c.552C>G (p.Tyr184Ter)
c.542C>G
c.303C>G (p.Tyr101Ter)
c.351C>G (p.Tyr117Ter)
c.426C>G (p.Tyr142Ter)
c.149C>G
n.737C>G
c.561C>G (p.Tyr187Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6291288C>TCA438210980WFS1c.552C>T (p.Tyr184=)
c.542C>T
c.303C>T (p.Tyr101=)
c.351C>T (p.Tyr117=)
c.426C>T (p.Tyr142=)
c.149C>T
n.737C>T
c.561C>T (p.Tyr187=)
4g.6291289T>ACA356172017WFS1c.553T>A (p.Trp185Arg)
c.543T>A
c.304T>A (p.Trp102Arg)
c.352T>A (p.Trp118Arg)
c.427T>A (p.Trp143Arg)
c.150T>A
n.738T>A
c.562T>A (p.Trp188Arg)
4g.6291289T>CCA356172016WFS1c.553T>C (p.Trp185Arg)
c.543T>C
c.304T>C (p.Trp102Arg)
c.352T>C (p.Trp118Arg)
c.427T>C (p.Trp143Arg)
c.150T>C
n.738T>C
c.562T>C (p.Trp188Arg)
4g.6291289T>GCA356172015WFS1c.553T>G (p.Trp185Gly)
c.543T>G
c.304T>G (p.Trp102Gly)
c.352T>G (p.Trp118Gly)
c.427T>G (p.Trp143Gly)
c.150T>G
n.738T>G
c.562T>G (p.Trp188Gly)
4g.6291289_6291293dupCA2669825847WFS1c.553_557dup (p.Lys186AsnfsTer?)
c.543_547dup
c.304_308dup (p.Lys103AsnfsTer?)
c.352_356dup (p.Lys119AsnfsTer?)
c.427_431dup (p.Lys144AsnfsTer?)
c.150_154dup
n.738_742dup
c.562_566dup (p.Lys189AsnfsTer?)
gnomAD v4
4g.6291290G>ACA2838936WFS1c.554G>A (p.Trp185Ter)
c.544G>A
c.305G>A (p.Trp102Ter)
c.353G>A (p.Trp118Ter)
c.428G>A (p.Trp143Ter)
c.151G>A
n.739G>A
c.563G>A (p.Trp188Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6291290G>CCA356172018WFS1c.554G>C (p.Trp185Ser)
c.544G>C
c.305G>C (p.Trp102Ser)
c.353G>C (p.Trp118Ser)
c.428G>C (p.Trp143Ser)
c.151G>C
n.739G>C
c.563G>C (p.Trp188Ser)
4g.6291290G=CA1435768608WFS1c.554G= (p.Trp185=)
c.544G=
c.305G= (p.Trp102=)
c.353G= (p.Trp118=)
c.428G= (p.Trp143=)
c.151G=
n.739G=
c.563G= (p.Trp188=)
4g.6291290G>TCA356172019WFS1c.554G>T (p.Trp185Leu)
c.544G>T
c.305G>T (p.Trp102Leu)
c.353G>T (p.Trp118Leu)
c.428G>T (p.Trp143Leu)
c.151G>T
n.739G>T
c.563G>T (p.Trp188Leu)
4g.6291291G>ACA356172020WFS1c.555G>A (p.Trp185Ter)
c.545G>A
c.306G>A (p.Trp102Ter)
c.354G>A (p.Trp118Ter)
c.429G>A (p.Trp143Ter)
c.152G>A
n.740G>A
c.564G>A (p.Trp188Ter)
4g.6291291G>CCA356172021WFS1c.555G>C (p.Trp185Cys)
c.545G>C
c.306G>C (p.Trp102Cys)
c.354G>C (p.Trp118Cys)
c.429G>C (p.Trp143Cys)
c.152G>C
n.740G>C
c.564G>C (p.Trp188Cys)
4g.6291291G>TCA356172022WFS1c.555G>T (p.Trp185Cys)
c.545G>T
c.306G>T (p.Trp102Cys)
c.354G>T (p.Trp118Cys)
c.429G>T (p.Trp143Cys)
c.152G>T
n.740G>T
c.564G>T (p.Trp188Cys)
4g.6291292A>CCA356172023WFS1c.556A>C (p.Lys186Gln)
c.546A>C
c.307A>C (p.Lys103Gln)
c.355A>C (p.Lys119Gln)
c.430A>C (p.Lys144Gln)
c.153A>C
n.741A>C
c.565A>C (p.Lys189Gln)
gnomAD v4
4g.6291292A>GCA356172024WFS1c.556A>G (p.Lys186Glu)
c.546A>G
c.307A>G (p.Lys103Glu)
c.355A>G (p.Lys119Glu)
c.430A>G (p.Lys144Glu)
c.153A>G
n.741A>G
c.565A>G (p.Lys189Glu)
4g.6291292A>TCA356172025WFS1c.556A>T (p.Lys186Ter)
c.546A>T
c.307A>T (p.Lys103Ter)
c.355A>T (p.Lys119Ter)
c.430A>T (p.Lys144Ter)
c.153A>T
n.741A>T
c.565A>T (p.Lys189Ter)
gnomAD v4
4g.6291293A>CCA356172026WFS1c.557A>C (p.Lys186Thr)
c.547A>C
c.308A>C (p.Lys103Thr)
c.356A>C (p.Lys119Thr)
c.431A>C (p.Lys144Thr)
c.154A>C
n.742A>C
c.566A>C (p.Lys189Thr)
4g.6291293A>GCA356172027WFS1c.557A>G (p.Lys186Arg)
c.547A>G
c.308A>G (p.Lys103Arg)
c.356A>G (p.Lys119Arg)
c.431A>G (p.Lys144Arg)
c.154A>G
n.742A>G
c.566A>G (p.Lys189Arg)
4g.6291293A>TCA356172028WFS1c.557A>T (p.Lys186Met)
c.547A>T
c.308A>T (p.Lys103Met)
c.356A>T (p.Lys119Met)
c.431A>T (p.Lys144Met)
c.154A>T
n.742A>T
c.566A>T (p.Lys189Met)
4g.6291294G>ACA438210981WFS1c.558G>A (p.Lys186=)
c.548G>A
c.309G>A (p.Lys103=)
c.357G>A (p.Lys119=)
c.432G>A (p.Lys144=)
c.155G>A
n.743G>A
c.567G>A (p.Lys189=)
4g.6291294G>CCA356172029WFS1c.558G>C (p.Lys186Asn)
c.548G>C
c.309G>C (p.Lys103Asn)
c.357G>C (p.Lys119Asn)
c.432G>C (p.Lys144Asn)
c.155G>C
n.743G>C
c.567G>C (p.Lys189Asn)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6291294G=CA1435768609WFS1c.558G= (p.Lys186=)
c.548G=
c.309G= (p.Lys103=)
c.357G= (p.Lys119=)
c.432G= (p.Lys144=)
c.155G=
n.743G=
c.567G= (p.Lys189=)
4g.6291294G>TCA356172030WFS1c.558G>T (p.Lys186Asn)
c.548G>T
c.309G>T (p.Lys103Asn)
c.357G>T (p.Lys119Asn)
c.432G>T (p.Lys144Asn)
c.155G>T
n.743G>T
c.567G>T (p.Lys189Asn)
4g.6291295C>ACA356172031WFS1c.559C>A (p.Leu187Ile)
c.549C>A
c.310C>A (p.Leu104Ile)
c.358C>A (p.Leu120Ile)
c.433C>A (p.Leu145Ile)
c.156C>A
n.744C>A
c.568C>A (p.Leu190Ile)
4g.6291295C=CA1435768610WFS1c.559C= (p.Leu187=)
c.549C=
c.310C= (p.Leu104=)
c.358C= (p.Leu120=)
c.433C= (p.Leu145=)
c.156C=
n.744C=
c.568C= (p.Leu190=)
4g.6291295C>GCA356172032WFS1c.559C>G (p.Leu187Val)
c.549C>G
c.310C>G (p.Leu104Val)
c.358C>G (p.Leu120Val)
c.433C>G (p.Leu145Val)
c.156C>G
n.744C>G
c.568C>G (p.Leu190Val)
dbSNP gnomAD v4
4g.6291295C>TCA356172033WFS1c.559C>T (p.Leu187Phe)
c.549C>T
c.310C>T (p.Leu104Phe)
c.358C>T (p.Leu120Phe)
c.433C>T (p.Leu145Phe)
c.156C>T
n.744C>T
c.568C>T (p.Leu190Phe)
ClinVar
4g.6291296T>ACA356172034WFS1c.560T>A (p.Leu187His)
c.550T>A
c.311T>A (p.Leu104His)
c.359T>A (p.Leu120His)
c.434T>A (p.Leu145His)
c.157T>A
n.745T>A
c.569T>A (p.Leu190His)
4g.6291296T>CCA356172035WFS1c.560T>C (p.Leu187Pro)
c.550T>C
c.311T>C (p.Leu104Pro)
c.359T>C (p.Leu120Pro)
c.434T>C (p.Leu145Pro)
c.157T>C
n.745T>C
c.569T>C (p.Leu190Pro)
4g.6291296T>GCA356172036WFS1c.560T>G (p.Leu187Arg)
c.550T>G
c.311T>G (p.Leu104Arg)
c.359T>G (p.Leu120Arg)
c.434T>G (p.Leu145Arg)
c.157T>G
n.745T>G
c.569T>G (p.Leu190Arg)
4g.6291297C>ACA438210982WFS1c.561C>A (p.Leu187=)
c.551C>A
c.312C>A (p.Leu104=)
c.360C>A (p.Leu120=)
c.435C>A (p.Leu145=)
c.158C>A
n.746C>A
c.570C>A (p.Leu190=)
4g.6291297C>GCA438210983WFS1c.561C>G (p.Leu187=)
c.551C>G
c.312C>G (p.Leu104=)
c.360C>G (p.Leu120=)
c.435C>G (p.Leu145=)
c.158C>G
n.746C>G
c.570C>G (p.Leu190=)
4g.6291297C>TCA438210984WFS1c.561C>T (p.Leu187=)
c.551C>T
c.312C>T (p.Leu104=)
c.360C>T (p.Leu120=)
c.435C>T (p.Leu145=)
c.158C>T
n.746C>T
c.570C>T (p.Leu190=)
4g.6291298A>CCA356172039WFS1c.562A>C (p.Asn188His)
c.552A>C
c.313A>C (p.Asn105His)
c.361A>C (p.Asn121His)
c.436A>C (p.Asn146His)
c.159A>C
n.747A>C
c.571A>C (p.Asn191His)
gnomAD v4
4g.6291298A>GCA356172037WFS1c.562A>G (p.Asn188Asp)
c.552A>G
c.313A>G (p.Asn105Asp)
c.361A>G (p.Asn121Asp)
c.436A>G (p.Asn146Asp)
c.159A>G
n.747A>G
c.571A>G (p.Asn191Asp)
4g.6291298A>TCA356172038WFS1c.562A>T (p.Asn188Tyr)
c.552A>T
c.313A>T (p.Asn105Tyr)
c.361A>T (p.Asn121Tyr)
c.436A>T (p.Asn146Tyr)
c.159A>T
n.747A>T
c.571A>T (p.Asn191Tyr)
4g.6291299A>CCA356172040WFS1c.563A>C (p.Asn188Thr)
c.553A>C
c.314A>C (p.Asn105Thr)
c.362A>C (p.Asn121Thr)
c.437A>C (p.Asn146Thr)
c.160A>C
n.748A>C
c.572A>C (p.Asn191Thr)
4g.6291299A>GCA356172041WFS1c.563A>G (p.Asn188Ser)
c.553A>G
c.314A>G (p.Asn105Ser)
c.362A>G (p.Asn121Ser)
c.437A>G (p.Asn146Ser)
c.160A>G
n.748A>G
c.572A>G (p.Asn191Ser)
4g.6291299A>TCA356172042WFS1c.563A>T (p.Asn188Ile)
c.553A>T
c.314A>T (p.Asn105Ile)
c.362A>T (p.Asn121Ile)
c.437A>T (p.Asn146Ile)
c.160A>T
n.748A>T
c.572A>T (p.Asn191Ile)
4g.6291300C>ACA356172043WFS1c.564C>A (p.Asn188Lys)
c.554C>A
c.315C>A (p.Asn105Lys)
c.363C>A (p.Asn121Lys)
c.438C>A (p.Asn146Lys)
c.161C>A
n.749C>A
c.573C>A (p.Asn191Lys)
gnomAD v4
4g.6291300C>GCA356172044WFS1c.564C>G (p.Asn188Lys)
c.554C>G
c.315C>G (p.Asn105Lys)
c.363C>G (p.Asn121Lys)
c.438C>G (p.Asn146Lys)
c.161C>G
n.749C>G
c.573C>G (p.Asn191Lys)
4g.6291300C>TCA438210985WFS1c.564C>T (p.Asn188=)
c.554C>T
c.315C>T (p.Asn105=)
c.363C>T (p.Asn121=)
c.438C>T (p.Asn146=)
c.161C>T
n.749C>T
c.573C>T (p.Asn191=)
4g.6291301C>ACA356172045WFS1c.565C>A (p.Pro189Thr)
c.555C>A
c.316C>A (p.Pro106Thr)
c.364C>A (p.Pro122Thr)
c.439C>A (p.Pro147Thr)
c.162C>A
n.750C>A
c.574C>A (p.Pro192Thr)
4g.6291301C=CA1435768611WFS1c.565C= (p.Pro189=)
c.555C=
c.316C= (p.Pro106=)
c.364C= (p.Pro122=)
c.439C= (p.Pro147=)
c.162C=
n.750C=
c.574C= (p.Pro192=)
4g.6291301C>GCA356172047WFS1c.565C>G (p.Pro189Ala)
c.555C>G
c.316C>G (p.Pro106Ala)
c.364C>G (p.Pro122Ala)
c.439C>G (p.Pro147Ala)
c.162C>G
n.750C>G
c.574C>G (p.Pro192Ala)
dbSNP gnomAD v3 gnomAD v4
4g.6291301C>TCA356172046WFS1c.565C>T (p.Pro189Ser)
c.555C>T
c.316C>T (p.Pro106Ser)
c.364C>T (p.Pro122Ser)
c.439C>T (p.Pro147Ser)
c.162C>T
n.750C>T
c.574C>T (p.Pro192Ser)
COSMIC
4g.6291302C>ACA356172048WFS1c.566C>A (p.Pro189His)
c.556C>A
c.317C>A (p.Pro106His)
c.365C>A (p.Pro122His)
c.440C>A (p.Pro147His)
c.163C>A
n.751C>A
c.575C>A (p.Pro192His)
4g.6291302C>GCA356172049WFS1c.566C>G (p.Pro189Arg)
c.556C>G
c.317C>G (p.Pro106Arg)
c.365C>G (p.Pro122Arg)
c.440C>G (p.Pro147Arg)
c.163C>G
n.751C>G
c.575C>G (p.Pro192Arg)
4g.6291302C>TCA356172050WFS1c.566C>T (p.Pro189Leu)
c.556C>T
c.317C>T (p.Pro106Leu)
c.365C>T (p.Pro122Leu)
c.440C>T (p.Pro147Leu)
c.163C>T
n.751C>T
c.575C>T (p.Pro192Leu)
4g.6291303C>ACA438210986WFS1c.567C>A (p.Pro189=)
c.557C>A
c.318C>A (p.Pro106=)
c.366C>A (p.Pro122=)
c.441C>A (p.Pro147=)
c.164C>A
n.752C>A
c.576C>A (p.Pro192=)
ClinVar dbSNP
4g.6291303C=CA1435768613WFS1c.567C= (p.Pro189=)
c.557C=
c.318C= (p.Pro106=)
c.366C= (p.Pro122=)
c.441C= (p.Pro147=)
c.164C=
n.752C=
c.576C= (p.Pro192=)
4g.6291303C>GCA438210987WFS1c.567C>G (p.Pro189=)
c.557C>G
c.318C>G (p.Pro106=)
c.366C>G (p.Pro122=)
c.441C>G (p.Pro147=)
c.164C>G
n.752C>G
c.576C>G (p.Pro192=)
gnomAD v4
4g.6291303C>TCA438210988WFS1c.567C>T (p.Pro189=)
c.557C>T
c.318C>T (p.Pro106=)
c.366C>T (p.Pro122=)
c.441C>T (p.Pro147=)
c.164C>T
n.752C>T
c.576C>T (p.Pro192=)
dbSNP gnomAD v2 gnomAD v4
4g.6291303_6291306delinsCAAGCA1435768612WFS1c.567_570delinsCAAG (p.Pro189=)
c.557_560delinsCAAG
c.318_321delinsCAAG (p.Pro106=)
c.366_369delinsCAAG (p.Pro122=)
c.441_444delinsCAAG (p.Pro147=)
c.164_167delinsCAAG
n.752_755delinsCAAG
c.576_579delinsCAAG (p.Pro192=)
4g.6291304A=CA1435768614WFS1c.568A= (p.Lys190=)
c.558A=
c.319A= (p.Lys107=)
c.367A= (p.Lys123=)
c.442A= (p.Lys148=)
c.165A=
n.753A=
c.577A= (p.Lys193=)
4g.6291304A>CCA2838939WFS1c.568A>C (p.Lys190Gln)
c.558A>C
c.319A>C (p.Lys107Gln)
c.367A>C (p.Lys123Gln)
c.442A>C (p.Lys148Gln)
c.165A>C
n.753A>C
c.577A>C (p.Lys193Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6291304A>GCA91794577WFS1c.568A>G (p.Lys190Glu)
c.558A>G
c.319A>G (p.Lys107Glu)
c.367A>G (p.Lys123Glu)
c.442A>G (p.Lys148Glu)
c.165A>G
n.753A>G
c.577A>G (p.Lys193Glu)
dbSNP gnomAD v3 gnomAD v4
4g.6291304A>TCA356172051WFS1c.568A>T (p.Lys190Ter)
c.558A>T
c.319A>T (p.Lys107Ter)
c.367A>T (p.Lys123Ter)
c.442A>T (p.Lys148Ter)
c.165A>T
n.753A>T
c.577A>T (p.Lys193Ter)
4g.6291313_6291315dupCA2838938WFS1c.577_579dup (p.Lys193_Gln194insLys)
c.567_569dup
c.328_330dup (p.Lys110_Gln111insLys)
c.376_378dup (p.Lys126_Gln127insLys)
c.174_176dup
n.762_764dup
c.586_588dup (p.Lys196_Gln197insLys)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6291313_6291315delCA2838937WFS1c.577_579del (p.Lys193del)
c.567_569del
c.328_330del (p.Lys110del)
c.376_378del (p.Lys126del)
c.174_176del
n.762_764del
c.586_588del (p.Lys196del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6291305A>CCA356172052WFS1c.569A>C (p.Lys190Thr)
c.559A>C
c.320A>C (p.Lys107Thr)
c.368A>C (p.Lys123Thr)
c.443A>C (p.Lys148Thr)
c.166A>C
n.754A>C
c.578A>C (p.Lys193Thr)
4g.6291305A>GCA356172053WFS1c.569A>G (p.Lys190Arg)
c.559A>G
c.320A>G (p.Lys107Arg)
c.368A>G (p.Lys123Arg)
c.443A>G (p.Lys148Arg)
c.166A>G
n.754A>G
c.578A>G (p.Lys193Arg)
gnomAD v4
4g.6291305A>TCA356172054WFS1c.569A>T (p.Lys190Met)
c.559A>T
c.320A>T (p.Lys107Met)
c.368A>T (p.Lys123Met)
c.443A>T (p.Lys148Met)
c.166A>T
n.754A>T
c.578A>T (p.Lys193Met)
4g.6291306G>ACA438210989WFS1c.570G>A (p.Lys190=)
c.560G>A
c.321G>A (p.Lys107=)
c.369G>A (p.Lys123=)
c.444G>A (p.Lys148=)
c.167G>A
n.755G>A
c.579G>A (p.Lys193=)
4g.6291306G>CCA356172055WFS1c.570G>C (p.Lys190Asn)
c.560G>C
c.321G>C (p.Lys107Asn)
c.369G>C (p.Lys123Asn)
c.444G>C (p.Lys148Asn)
c.167G>C
n.755G>C
c.579G>C (p.Lys193Asn)
4g.6291306G>TCA356172056WFS1c.570G>T (p.Lys190Asn)
c.560G>T
c.321G>T (p.Lys107Asn)
c.369G>T (p.Lys123Asn)
c.444G>T (p.Lys148Asn)
c.167G>T
n.755G>T
c.579G>T (p.Lys193Asn)
4g.6291307A>CCA356172057WFS1c.571A>C (p.Lys191Gln)
c.561A>C
c.322A>C (p.Lys108Gln)
c.370A>C (p.Lys124Gln)
c.445A>C
c.168A>C
n.756A>C
c.580A>C (p.Lys194Gln)
4g.6291307A>GCA356172059WFS1c.571A>G (p.Lys191Glu)
c.561A>G
c.322A>G (p.Lys108Glu)
c.370A>G (p.Lys124Glu)
c.445A>G
c.168A>G
n.756A>G
c.580A>G (p.Lys194Glu)
4g.6291307A>TCA356172058WFS1c.571A>T (p.Lys191Ter)
c.561A>T
c.322A>T (p.Lys108Ter)
c.370A>T (p.Lys124Ter)
c.445A>T
c.168A>T
n.756A>T
c.580A>T (p.Lys194Ter)
4g.6291308A=CA1435768615WFS1c.572A= (p.Lys191=)
c.562A=
c.323A= (p.Lys108=)
c.371A= (p.Lys124=)
c.446A=
c.169A=
n.757A=
c.581A= (p.Lys194=)
4g.6291308A>CCA356172060WFS1c.572A>C (p.Lys191Thr)
c.562A>C
c.323A>C (p.Lys108Thr)
c.371A>C (p.Lys124Thr)
c.446A>C
c.169A>C
n.757A>C
c.581A>C (p.Lys194Thr)
4g.6291308A>GCA2838940WFS1c.572A>G (p.Lys191Arg)
c.562A>G
c.323A>G (p.Lys108Arg)
c.371A>G (p.Lys124Arg)
c.446A>G
c.169A>G
n.757A>G
c.581A>G (p.Lys194Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6291308A>TCA356172061WFS1c.572A>T (p.Lys191Met)
c.562A>T
c.323A>T (p.Lys108Met)
c.371A>T (p.Lys124Met)
c.446A>T
c.169A>T
n.757A>T
c.581A>T (p.Lys194Met)
4g.6291309G>ACA2838941WFS1c.573G>A (p.Lys191=)
c.563G>A
c.324G>A (p.Lys108=)
c.372G>A (p.Lys124=)
c.170G>A
n.758G>A
c.582G>A (p.Lys194=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4g.6291309G>CCA356172062WFS1c.573G>C (p.Lys191Asn)
c.563G>C
c.324G>C (p.Lys108Asn)
c.372G>C (p.Lys124Asn)
c.170G>C
n.758G>C
c.582G>C (p.Lys194Asn)
4g.6291309G=CA1435768616WFS1c.573G= (p.Lys191=)
c.563G=
c.324G= (p.Lys108=)
c.372G= (p.Lys124=)
c.170G=
n.758G=
c.582G= (p.Lys194=)
4g.6291309G>TCA356172063WFS1c.573G>T (p.Lys191Asn)
c.563G>T
c.324G>T (p.Lys108Asn)
c.372G>T (p.Lys124Asn)
c.170G>T
n.758G>T
c.582G>T (p.Lys194Asn)
ClinVar dbSNP gnomAD v2
4g.6291310A=CA1435768617WFS1c.574A= (p.Lys192=)
c.564A=
c.325A= (p.Lys109=)
c.373A= (p.Lys125=)
c.171A=
n.759A=
c.583A= (p.Lys195=)
4g.6291310A>CCA356172064WFS1c.574A>C (p.Lys192Gln)
c.564A>C
c.325A>C (p.Lys109Gln)
c.373A>C (p.Lys125Gln)
c.171A>C
n.759A>C
c.583A>C (p.Lys195Gln)
dbSNP gnomAD v3 gnomAD v4
4g.6291310A>GCA356172065WFS1c.574A>G (p.Lys192Glu)
c.564A>G
c.325A>G (p.Lys109Glu)
c.373A>G (p.Lys125Glu)
c.171A>G
n.759A>G
c.583A>G (p.Lys195Glu)
4g.6291310A>TCA356172066WFS1c.574A>T (p.Lys192Ter)
c.564A>T
c.325A>T (p.Lys109Ter)
c.373A>T (p.Lys125Ter)
c.171A>T
n.759A>T
c.583A>T (p.Lys195Ter)
4g.6291311A=CA1435768618WFS1c.575A= (p.Lys192=)
c.565A=
c.326A= (p.Lys109=)
c.374A= (p.Lys125=)
c.172A=
n.760A=
c.584A= (p.Lys195=)
4g.6291311A>CCA356172067WFS1c.575A>C (p.Lys192Thr)
c.565A>C
c.326A>C (p.Lys109Thr)
c.374A>C (p.Lys125Thr)
c.172A>C
n.760A>C
c.584A>C (p.Lys195Thr)
dbSNP gnomAD v4
4g.6291311A>GCA356172068WFS1c.575A>G (p.Lys192Arg)
c.565A>G
c.326A>G (p.Lys109Arg)
c.374A>G (p.Lys125Arg)
c.172A>G
n.760A>G
c.584A>G (p.Lys195Arg)
dbSNP gnomAD v2 gnomAD v4
4g.6291311A>TCA356172069WFS1c.575A>T (p.Lys192Met)
c.565A>T
c.326A>T (p.Lys109Met)
c.374A>T (p.Lys125Met)
c.172A>T
n.760A>T
c.584A>T (p.Lys195Met)
4g.6291312G>ACA438210990WFS1c.576G>A (p.Lys192=)
c.566G>A
c.327G>A (p.Lys109=)
c.375G>A (p.Lys125=)
c.173G>A
n.761G>A
c.585G>A (p.Lys195=)
4g.6291312G>CCA356172070WFS1c.576G>C (p.Lys192Asn)
c.566G>C
c.327G>C (p.Lys109Asn)
c.375G>C (p.Lys125Asn)
c.173G>C
n.761G>C
c.585G>C (p.Lys195Asn)
4g.6291312G=CA1435768619WFS1c.576G= (p.Lys192=)
c.566G=
c.327G= (p.Lys109=)
c.375G= (p.Lys125=)
c.173G=
n.761G=
c.585G= (p.Lys195=)
4g.6291312G>TCA356172071WFS1c.576G>T (p.Lys192Asn)
c.566G>T
c.327G>T (p.Lys109Asn)
c.375G>T (p.Lys125Asn)
c.173G>T
n.761G>T
c.585G>T (p.Lys195Asn)
4g.6291313A=CA1435768620WFS1c.577A= (p.Lys193=)
c.567A=
c.328A= (p.Lys110=)
c.376A= (p.Lys126=)
c.174A=
n.762A=
c.586A= (p.Lys196=)
4g.6291313A>CCA295799WFS1c.577A>C (p.Lys193Gln)
c.567A>C
c.328A>C (p.Lys110Gln)
c.376A>C (p.Lys126Gln)
c.174A>C
n.762A>C
c.586A>C (p.Lys196Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6291313A>GCA356172072WFS1c.577A>G (p.Lys193Glu)
c.567A>G
c.328A>G (p.Lys110Glu)
c.376A>G (p.Lys126Glu)
c.174A>G
n.762A>G
c.586A>G (p.Lys196Glu)
gnomAD v4
4g.6291313A>TCA356172073WFS1c.577A>T (p.Lys193Ter)
c.567A>T
c.328A>T (p.Lys110Ter)
c.376A>T (p.Lys126Ter)
c.174A>T
n.762A>T
c.586A>T (p.Lys196Ter)
4g.6291314dupCA2838942WFS1c.578dup (p.Gln194AlafsTer?)
c.568dup
c.329dup (p.Gln111AlafsTer?)
c.377dup (p.Gln127AlafsTer?)
c.175dup
n.763dup
c.587dup (p.Gln197AlafsTer?)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
4g.6291314A=CA1435768621WFS1c.578A= (p.Lys193=)
c.568A=
c.329A= (p.Lys110=)
c.377A= (p.Lys126=)
c.175A=
n.763A=
c.587A= (p.Lys196=)
4g.6291314A>CCA356172074WFS1c.578A>C (p.Lys193Thr)
c.568A>C
c.329A>C (p.Lys110Thr)
c.377A>C (p.Lys126Thr)
c.175A>C
n.763A>C
c.587A>C (p.Lys196Thr)
4g.6291314A>GCA16609250WFS1c.578A>G (p.Lys193Arg)
c.568A>G
c.329A>G (p.Lys110Arg)
c.377A>G (p.Lys126Arg)
c.175A>G
n.763A>G
c.587A>G (p.Lys196Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6291314A>TCA356172075WFS1c.578A>T (p.Lys193Met)
c.568A>T
c.329A>T (p.Lys110Met)
c.377A>T (p.Lys126Met)
c.175A>T
n.763A>T
c.587A>T (p.Lys196Met)
4g.6291315_6291316insGAGCA2838943WFS1c.579_580insGAG (p.Lys193_Gln194insGlu)
c.569_570insGAG
c.330_331insGAG (p.Lys110_Gln111insGlu)
c.378_379insGAG (p.Lys126_Gln127insGlu)
c.176_177insGAG
n.764_765insGAG
c.588_589insGAG (p.Lys196_Gln197insGlu)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6291315G>ACA438210991WFS1c.579G>A (p.Lys193=)
c.569G>A
c.330G>A (p.Lys110=)
c.378G>A (p.Lys126=)
c.176G>A
n.764G>A
c.588G>A (p.Lys196=)
4g.6291315G>CCA356172076WFS1c.579G>C (p.Lys193Asn)
c.569G>C
c.330G>C (p.Lys110Asn)
c.378G>C (p.Lys126Asn)
c.176G>C
n.764G>C
c.588G>C (p.Lys196Asn)
4g.6291315G>TCA356172077WFS1c.579G>T (p.Lys193Asn)
c.569G>T
c.330G>T (p.Lys110Asn)
c.378G>T (p.Lys126Asn)
c.176G>T
n.764G>T
c.588G>T (p.Lys196Asn)
4g.6291316C>ACA356172078WFS1c.580C>A (p.Gln194Lys)
c.570C>A
c.331C>A (p.Gln111Lys)
c.379C>A (p.Gln127Lys)
c.177C>A
n.765C>A
c.589C>A (p.Gln197Lys)
gnomAD v4
4g.6291316C>GCA356172079WFS1c.580C>G (p.Gln194Glu)
c.570C>G
c.331C>G (p.Gln111Glu)
c.379C>G (p.Gln127Glu)
c.177C>G
n.765C>G
c.589C>G (p.Gln197Glu)
gnomAD v4
4g.6291316C>TCA356172080WFS1c.580C>T (p.Gln194Ter)
c.570C>T
c.331C>T (p.Gln111Ter)
c.379C>T (p.Gln127Ter)
c.177C>T
n.765C>T
c.589C>T (p.Gln197Ter)
gnomAD v4
4g.6291317A>CCA356172081WFS1c.581A>C (p.Gln194Pro)
c.571A>C
c.332A>C (p.Gln111Pro)
c.380A>C (p.Gln127Pro)
c.178A>C
n.766A>C
c.590A>C (p.Gln197Pro)
4g.6291317A>GCA356172083WFS1c.581A>G (p.Gln194Arg)
c.571A>G
c.332A>G (p.Gln111Arg)
c.380A>G (p.Gln127Arg)
c.178A>G
n.766A>G
c.590A>G (p.Gln197Arg)
4g.6291317A>TCA356172082WFS1c.581A>T (p.Gln194Leu)
c.571A>T
c.332A>T (p.Gln111Leu)
c.380A>T (p.Gln127Leu)
c.178A>T
n.766A>T
c.590A>T (p.Gln197Leu)
4g.6291318G>ACA438210992WFS1c.582G>A (p.Gln194=)
c.572G>A
c.333G>A (p.Gln111=)
c.381G>A (p.Gln127=)
c.179G>A
n.767G>A
c.591G>A (p.Gln197=)
gnomAD v4
4g.6291318G>CCA356172084WFS1c.582G>C (p.Gln194His)
c.572G>C
c.333G>C (p.Gln111His)
c.381G>C (p.Gln127His)
c.179G>C
n.767G>C
c.591G>C (p.Gln197His)
dbSNP gnomAD v2
4g.6291318G=CA1435768622WFS1c.582G= (p.Gln194=)
c.572G=
c.333G= (p.Gln111=)
c.381G= (p.Gln127=)
c.179G=
n.767G=
c.591G= (p.Gln197=)
4g.6291318G>TCA356172085WFS1c.582G>T (p.Gln194His)
c.572G>T
c.333G>T (p.Gln111His)
c.381G>T (p.Gln127His)
c.179G>T
n.767G>T
c.591G>T (p.Gln197His)
COSMIC
4g.6291319G>ACA356172086WFS1c.583G>A (p.Val195Met)
c.573G>A
c.334G>A (p.Val112Met)
c.382G>A (p.Val128Met)
c.180G>A
n.768G>A
c.592G>A (p.Val198Met)
dbSNP
4g.6291319G>CCA356172087WFS1c.583G>C (p.Val195Leu)
c.573G>C
c.334G>C (p.Val112Leu)
c.382G>C (p.Val128Leu)
c.180G>C
n.768G>C
c.592G>C (p.Val198Leu)
4g.6291319G=CA1435768623WFS1c.583G= (p.Val195=)
c.573G=
c.334G= (p.Val112=)
c.382G= (p.Val128=)
c.180G=
n.768G=
c.592G= (p.Val198=)
4g.6291319G>TCA356172088WFS1c.583G>T (p.Val195Leu)
c.573G>T
c.334G>T (p.Val112Leu)
c.382G>T (p.Val128Leu)
c.180G>T
n.768G>T
c.592G>T (p.Val198Leu)
4g.6291320T>ACA356172089WFS1c.584T>A (p.Val195Glu)
c.574T>A
c.335T>A (p.Val112Glu)
c.383T>A (p.Val128Glu)
c.181T>A
n.769T>A
c.593T>A (p.Val198Glu)
4g.6291320T>CCA356172090WFS1c.584T>C (p.Val195Ala)
c.574T>C
c.335T>C (p.Val112Ala)
c.383T>C (p.Val128Ala)
c.181T>C
n.769T>C
c.593T>C (p.Val198Ala)
gnomAD v4
4g.6291320T>GCA356172091WFS1c.584T>G (p.Val195Gly)
c.574T>G
c.335T>G (p.Val112Gly)
c.383T>G (p.Val128Gly)
c.181T>G
n.769T>G
c.593T>G (p.Val198Gly)
4g.6291321G>ACA438210993WFS1c.585G>A (p.Val195=)
c.575G>A
c.336G>A (p.Val112=)
c.384G>A (p.Val128=)
c.182G>A
n.770G>A
c.594G>A (p.Val198=)
4g.6291321G>CCA438210994WFS1c.585G>C (p.Val195=)
c.575G>C
c.336G>C (p.Val112=)
c.384G>C (p.Val128=)
c.182G>C
n.770G>C
c.594G>C (p.Val198=)
4g.6291321G>TCA438210995WFS1c.585G>T (p.Val195=)
c.575G>T
c.336G>T (p.Val112=)
c.384G>T (p.Val128=)
c.182G>T
n.770G>T
c.594G>T (p.Val198=)
gnomAD v4
4g.6291322G>ACA356172092WFS1c.586G>A (p.Ala196Thr)
c.576G>A
c.337G>A (p.Ala113Thr)
c.385G>A (p.Ala129Thr)
c.183G>A
n.771G>A
c.595G>A (p.Ala199Thr)
gnomAD v4
4g.6291322G>CCA356172093WFS1c.586G>C (p.Ala196Pro)
c.576G>C
c.337G>C (p.Ala113Pro)
c.385G>C (p.Ala129Pro)
c.183G>C
n.771G>C
c.595G>C (p.Ala199Pro)
4g.6291322G>TCA356172094WFS1c.586G>T (p.Ala196Ser)
c.576G>T
c.337G>T (p.Ala113Ser)
c.385G>T (p.Ala129Ser)
c.183G>T
n.771G>T
c.595G>T (p.Ala199Ser)
4g.6291323C>ACA356172097WFS1c.587C>A (p.Ala196Asp)
c.577C>A
c.338C>A (p.Ala113Asp)
c.386C>A (p.Ala129Asp)
c.184C>A
n.772C>A
c.596C>A (p.Ala199Asp)
4g.6291323C>GCA356172096WFS1c.587C>G (p.Ala196Gly)
c.577C>G
c.338C>G (p.Ala113Gly)
c.386C>G (p.Ala129Gly)
c.184C>G
n.772C>G
c.596C>G (p.Ala199Gly)
4g.6291323C>TCA356172095WFS1c.587C>T (p.Ala196Val)
c.577C>T
c.338C>T (p.Ala113Val)
c.386C>T (p.Ala129Val)
c.184C>T
n.772C>T
c.596C>T (p.Ala199Val)
COSMIC
4g.6291324C>ACA438210996WFS1c.588C>A (p.Ala196=)
c.578C>A
c.339C>A (p.Ala113=)
c.387C>A (p.Ala129=)
c.185C>A
n.773C>A
c.597C>A (p.Ala199=)
gnomAD v4
4g.6291324C=CA1435768624WFS1c.588C= (p.Ala196=)
c.578C=
c.339C= (p.Ala113=)
c.387C= (p.Ala129=)
c.185C=
n.773C=
c.597C= (p.Ala199=)
4g.6291324C>GCA438210997WFS1c.588C>G (p.Ala196=)
c.578C>G
c.339C>G (p.Ala113=)
c.387C>G (p.Ala129=)
c.185C>G
n.773C>G
c.597C>G (p.Ala199=)
4g.6291324C>TCA2838944WFS1c.588C>T (p.Ala196=)
c.578C>T
c.339C>T (p.Ala113=)
c.387C>T (p.Ala129=)
c.185C>T
n.773C>T
c.597C>T (p.Ala199=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6291325G>ACA356172098WFS1c.589G>A (p.Val197Met)
c.579G>A
c.340G>A (p.Val114Met)
c.388G>A (p.Val130Met)
c.186G>A
n.774G>A
c.598G>A (p.Val200Met)
ClinVar dbSNP gnomAD v4
4g.6291325G>CCA356172099WFS1c.589G>C (p.Val197Leu)
c.579G>C
c.340G>C (p.Val114Leu)
c.388G>C (p.Val130Leu)
c.186G>C
n.774G>C
c.598G>C (p.Val200Leu)
4g.6291325G=CA1435768625WFS1c.589G= (p.Val197=)
c.579G=
c.340G= (p.Val114=)
c.388G= (p.Val130=)
c.186G=
n.774G=
c.598G= (p.Val200=)
4g.6291325G>TCA356172100WFS1c.589G>T (p.Val197Leu)
c.579G>T
c.340G>T (p.Val114Leu)
c.388G>T (p.Val130Leu)
c.186G>T
n.774G>T
c.598G>T (p.Val200Leu)
4g.6291326T>ACA356172101WFS1c.590T>A (p.Val197Glu)
c.580T>A
c.341T>A (p.Val114Glu)
c.389T>A (p.Val130Glu)
c.187T>A
n.775T>A
c.599T>A (p.Val200Glu)
4g.6291326T>CCA356172102WFS1c.590T>C (p.Val197Ala)
c.580T>C
c.341T>C (p.Val114Ala)
c.389T>C (p.Val130Ala)
c.187T>C
n.775T>C
c.599T>C (p.Val200Ala)
4g.6291326T>GCA356172103WFS1c.590T>G (p.Val197Gly)
c.580T>G
c.341T>G (p.Val114Gly)
c.389T>G (p.Val130Gly)
c.187T>G
n.775T>G
c.599T>G (p.Val200Gly)
4g.6291327G>ACA91794578WFS1c.591G>A (p.Val197=)
c.581G>A
c.342G>A (p.Val114=)
c.390G>A (p.Val130=)
c.188G>A
n.776G>A
c.600G>A (p.Val200=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6291327G>CCA438210998WFS1c.591G>C (p.Val197=)
c.581G>C
c.342G>C (p.Val114=)
c.390G>C (p.Val130=)
c.188G>C
n.776G>C
c.600G>C (p.Val200=)
4g.6291327G=CA1435768626WFS1c.591G= (p.Val197=)
c.581G=
c.342G= (p.Val114=)
c.390G= (p.Val130=)
c.188G=
n.776G=
c.600G= (p.Val200=)
4g.6291327G>TCA438210999WFS1c.591G>T (p.Val197=)
c.581G>T
c.342G>T (p.Val114=)
c.390G>T (p.Val130=)
c.188G>T
n.776G>T
c.600G>T (p.Val200=)
4g.6291328G>ACA356172104WFS1c.592G>A (p.Ala198Thr)
c.582G>A
c.343G>A (p.Ala115Thr)
c.391G>A (p.Ala131Thr)
c.189G>A
n.777G>A
c.601G>A (p.Ala201Thr)
gnomAD v4
4g.6291328G>CCA356172105WFS1c.592G>C (p.Ala198Pro)
c.582G>C
c.343G>C (p.Ala115Pro)
c.391G>C (p.Ala131Pro)
c.189G>C
n.777G>C
c.601G>C (p.Ala201Pro)
4g.6291328G>TCA356172106WFS1c.592G>T (p.Ala198Ser)
c.582G>T
c.343G>T (p.Ala115Ser)
c.391G>T (p.Ala131Ser)
c.189G>T
n.777G>T
c.601G>T (p.Ala201Ser)
gnomAD v3 gnomAD v4
4g.6291329C>ACA356172107WFS1c.593C>A (p.Ala198Glu)
c.583C>A
c.344C>A (p.Ala115Glu)
c.392C>A (p.Ala131Glu)
c.190C>A
n.778C>A
c.602C>A (p.Ala201Glu)
4g.6291329C=CA1435768627WFS1c.593C= (p.Ala198=)
c.583C=
c.344C= (p.Ala115=)
c.392C= (p.Ala131=)
c.190C=
n.778C=
c.602C= (p.Ala201=)
4g.6291329C>GCA356172108WFS1c.593C>G (p.Ala198Gly)
c.583C>G
c.344C>G (p.Ala115Gly)
c.392C>G (p.Ala131Gly)
c.190C>G
n.778C>G
c.602C>G (p.Ala201Gly)
4g.6291329C>TCA91794579WFS1c.593C>T (p.Ala198Val)
c.583C>T
c.344C>T (p.Ala115Val)
c.392C>T (p.Ala131Val)
c.190C>T
n.778C>T
c.602C>T (p.Ala201Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.6291330G>ACA2838945WFS1c.594G>A (p.Ala198=)
c.584G>A
c.345G>A (p.Ala115=)
c.393G>A (p.Ala131=)
c.191G>A
n.779G>A
c.603G>A (p.Ala201=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6291330G>CCA438211000WFS1c.594G>C (p.Ala198=)
c.584G>C
c.345G>C (p.Ala115=)
c.393G>C (p.Ala131=)
c.191G>C
n.779G>C
c.603G>C (p.Ala201=)
dbSNP gnomAD v3 gnomAD v4
4g.6291330G=CA1435768628WFS1c.594G= (p.Ala198=)
c.584G=
c.345G= (p.Ala115=)
c.393G= (p.Ala131=)
c.191G=
n.779G=
c.603G= (p.Ala201=)
4g.6291330G>TCA438211001WFS1c.594G>T (p.Ala198=)
c.584G>T
c.345G>T (p.Ala115=)
c.393G>T (p.Ala131=)
c.191G>T
n.779G>T
c.603G>T (p.Ala201=)
4g.6291331G>ACA356172109WFS1c.595G>A (p.Glu199Lys)
c.585G>A
c.346G>A (p.Glu116Lys)
c.394G>A (p.Glu132Lys)
c.192G>A
n.780G>A
c.604G>A (p.Glu202Lys)
4g.6291331G>CCA2838946WFS1c.595G>C (p.Glu199Gln)
c.585G>C
c.346G>C (p.Glu116Gln)
c.394G>C (p.Glu132Gln)
c.192G>C
n.780G>C
c.604G>C (p.Glu202Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6291331G=CA1435768629WFS1c.595G= (p.Glu199=)
c.585G=
c.346G= (p.Glu116=)
c.394G= (p.Glu132=)
c.192G=
n.780G=
c.604G= (p.Glu202=)
4g.6291331G>TCA356172110WFS1c.595G>T (p.Glu199Ter)
c.585G>T
c.346G>T (p.Glu116Ter)
c.394G>T (p.Glu132Ter)
c.192G>T
n.780G>T
c.604G>T (p.Glu202Ter)
4g.6291332A>CCA356172111WFS1c.596A>C (p.Glu199Ala)
c.586A>C
c.347A>C (p.Glu116Ala)
c.395A>C (p.Glu132Ala)
c.193A>C
n.781A>C
c.605A>C (p.Glu202Ala)
4g.6291332A>GCA356172113WFS1c.596A>G (p.Glu199Gly)
c.586A>G
c.347A>G (p.Glu116Gly)
c.395A>G (p.Glu132Gly)
c.193A>G
n.781A>G
c.605A>G (p.Glu202Gly)
ClinVar
4g.6291332A>TCA356172112WFS1c.596A>T (p.Glu199Val)
c.586A>T
c.347A>T (p.Glu116Val)
c.395A>T (p.Glu132Val)
c.193A>T
n.781A>T
c.605A>T (p.Glu202Val)
4g.6291333G>ACA438211002WFS1c.597G>A (p.Glu199=)
c.587G>A
c.348G>A (p.Glu116=)
c.396G>A (p.Glu132=)
c.194G>A
n.782G>A
c.606G>A (p.Glu202=)
4g.6291333G>CCA356172114WFS1c.597G>C (p.Glu199Asp)
c.587G>C
c.348G>C (p.Glu116Asp)
c.396G>C (p.Glu132Asp)
c.194G>C
n.782G>C
c.606G>C (p.Glu202Asp)
4g.6291333G>TCA356172115WFS1c.597G>T (p.Glu199Asp)
c.587G>T
c.348G>T (p.Glu116Asp)
c.396G>T (p.Glu132Asp)
c.194G>T
n.782G>T
c.606G>T (p.Glu202Asp)
4g.6291334C>ACA356172116WFS1c.598C>A (p.Leu200Met)
c.588C>A
c.349C>A (p.Leu117Met)
c.397C>A (p.Leu133Met)
c.195C>A
n.783C>A
c.607C>A (p.Leu203Met)
4g.6291334C>GCA356172117WFS1c.598C>G (p.Leu200Val)
c.588C>G
c.349C>G (p.Leu117Val)
c.397C>G (p.Leu133Val)
c.195C>G
n.783C>G
c.607C>G (p.Leu203Val)
4g.6291334C>TCA438211003WFS1c.598C>T (p.Leu200=)
c.588C>T
c.349C>T (p.Leu117=)
c.397C>T (p.Leu133=)
c.195C>T
n.783C>T
c.607C>T (p.Leu203=)
4g.6291335delCA2578035748WFS1c.599del (p.Leu200ArgfsTer?)
c.589del
c.350del (p.Leu117ArgfsTer?)
c.398del (p.Leu133ArgfsTer?)
c.196del
n.784del
c.608del (p.Leu203ArgfsTer?)
ClinVar gnomAD v4
4g.6291335T>ACA356172118WFS1c.599T>A (p.Leu200Gln)
c.589T>A
c.350T>A (p.Leu117Gln)
c.398T>A (p.Leu133Gln)
c.196T>A
n.784T>A
c.608T>A (p.Leu203Gln)
4g.6291335T>CCA356172119WFS1c.599T>C (p.Leu200Pro)
c.589T>C
c.350T>C (p.Leu117Pro)
c.398T>C (p.Leu133Pro)
c.196T>C
n.784T>C
c.608T>C (p.Leu203Pro)
ClinVar gnomAD v4
4g.6291335T>GCA356172120WFS1c.599T>G (p.Leu200Arg)
c.589T>G
c.350T>G (p.Leu117Arg)
c.398T>G (p.Leu133Arg)
c.196T>G
n.784T>G
c.608T>G (p.Leu203Arg)
4g.6291336G>ACA438211006WFS1c.600G>A (p.Leu200=)
c.590G>A
c.351G>A (p.Leu117=)
c.399G>A (p.Leu133=)
c.197G>A
n.785G>A
c.609G>A (p.Leu203=)
gnomAD v4
4g.6291336G>CCA438211004WFS1c.600G>C (p.Leu200=)
c.590G>C
c.351G>C (p.Leu117=)
c.399G>C (p.Leu133=)
c.197G>C
n.785G>C
c.609G>C (p.Leu203=)
4g.6291336G>TCA438211005WFS1c.600G>T (p.Leu200=)
c.590G>T
c.351G>T (p.Leu117=)
c.399G>T (p.Leu133=)
c.197G>T
n.785G>T
c.609G>T (p.Leu203=)
4g.6291337C>ACA2838947WFS1c.601C>A (p.Leu201Met)
c.591C>A
c.352C>A (p.Leu118Met)
c.400C>A (p.Leu134Met)
c.198C>A
n.786C>A
c.610C>A (p.Leu204Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6291337C=CA1435768630WFS1c.601C= (p.Leu201=)
c.591C=
c.352C= (p.Leu118=)
c.400C= (p.Leu134=)
c.198C=
n.786C=
c.610C= (p.Leu204=)
4g.6291337C>GCA356172121WFS1c.601C>G (p.Leu201Val)
c.591C>G
c.352C>G (p.Leu118Val)
c.400C>G (p.Leu134Val)
c.198C>G
n.786C>G
c.610C>G (p.Leu204Val)
4g.6291337C>TCA438211007WFS1c.601C>T (p.Leu201=)
c.591C>T
c.352C>T (p.Leu118=)
c.400C>T (p.Leu134=)
c.198C>T
n.786C>T
c.610C>T (p.Leu204=)
4g.6291338T>ACA356172122WFS1c.602T>A (p.Leu201Gln)
c.592T>A
c.353T>A (p.Leu118Gln)
c.401T>A (p.Leu134Gln)
c.199T>A
n.787T>A
c.611T>A (p.Leu204Gln)
4g.6291338T>CCA356172123WFS1c.602T>C (p.Leu201Pro)
c.592T>C
c.353T>C (p.Leu118Pro)
c.401T>C (p.Leu134Pro)
c.199T>C
n.787T>C
c.611T>C (p.Leu204Pro)
4g.6291338T>GCA356172124WFS1c.602T>G (p.Leu201Arg)
c.592T>G
c.353T>G (p.Leu118Arg)
c.401T>G (p.Leu134Arg)
c.199T>G
n.787T>G
c.611T>G (p.Leu204Arg)
4g.6291339G>ACA438211008WFS1c.603G>A (p.Leu201=)
c.593G>A
c.354G>A (p.Leu118=)
c.402G>A (p.Leu134=)
c.200G>A
n.788G>A
c.612G>A (p.Leu204=)
COSMIC
4g.6291339G>CCA438211009WFS1c.603G>C (p.Leu201=)
c.593G>C
c.354G>C (p.Leu118=)
c.402G>C (p.Leu134=)
c.200G>C
n.788G>C
c.612G>C (p.Leu204=)
gnomAD v4
4g.6291339G>TCA438211010WFS1c.603G>T (p.Leu201=)
c.593G>T
c.354G>T (p.Leu118=)
c.402G>T (p.Leu134=)
c.200G>T
n.788G>T
c.612G>T (p.Leu204=)
4g.6291340G>ACA2838948WFS1c.604G>A (p.Glu202Lys)
c.594G>A
c.355G>A (p.Glu119Lys)
c.403G>A (p.Glu135Lys)
c.201G>A
n.789G>A
c.613G>A (p.Glu205Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6291340G>CCA356172125WFS1c.604G>C (p.Glu202Gln)
c.594G>C
c.355G>C (p.Glu119Gln)
c.403G>C (p.Glu135Gln)
c.201G>C
n.789G>C
c.613G>C (p.Glu205Gln)
ClinVar
4g.6291340G=CA1435768631WFS1c.604G= (p.Glu202=)
c.594G=
c.355G= (p.Glu119=)
c.403G= (p.Glu135=)
c.201G=
n.789G=
c.613G= (p.Glu205=)
4g.6291340G>TCA356172126WFS1c.604G>T (p.Glu202Ter)
c.594G>T
c.355G>T (p.Glu119Ter)
c.403G>T (p.Glu135Ter)
c.201G>T
n.789G>T
c.613G>T (p.Glu205Ter)
4g.6291341A=CA1435768632WFS1c.605A= (p.Glu202=)
c.595A=
c.356A= (p.Glu119=)
c.404A= (p.Glu135=)
c.202A=
n.790A=
c.614A= (p.Glu205=)
4g.6291341A>CCA356172128WFS1c.605A>C (p.Glu202Ala)
c.595A>C
c.356A>C (p.Glu119Ala)
c.404A>C (p.Glu135Ala)
c.202A>C
n.790A>C
c.614A>C (p.Glu205Ala)
4g.6291341A>GCA16618051WFS1c.605A>G (p.Glu202Gly)
c.595A>G
c.356A>G (p.Glu119Gly)
c.404A>G (p.Glu135Gly)
c.202A>G
n.790A>G
c.614A>G (p.Glu205Gly)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6291341A>TCA356172127WFS1c.605A>T (p.Glu202Val)
c.595A>T
c.356A>T (p.Glu119Val)
c.404A>T (p.Glu135Val)
c.202A>T
n.790A>T
c.614A>T (p.Glu205Val)
4g.6291342G>ACA438211011WFS1c.606G>A (p.Glu202=)
c.596G>A
c.357G>A (p.Glu119=)
c.405G>A (p.Glu135=)
c.203G>A
n.791G>A
c.615G>A (p.Glu205=)
dbSNP
4g.6291342G>CCA356172129WFS1c.606G>C (p.Glu202Asp)
c.596G>C
c.357G>C (p.Glu119Asp)
c.405G>C (p.Glu135Asp)
c.203G>C
n.791G>C
c.615G>C (p.Glu205Asp)
4g.6291342G>TCA356172130WFS1c.606G>T (p.Glu202Asp)
c.596G>T
c.357G>T (p.Glu119Asp)
c.405G>T (p.Glu135Asp)
c.203G>T
n.791G>T
c.615G>T (p.Glu205Asp)
4g.6291343A>CCA356172131WFS1c.607A>C (p.Asn203His)
c.597A>C
c.358A>C (p.Asn120His)
c.406A>C (p.Asn136His)
c.204A>C
n.792A>C
c.616A>C (p.Asn206His)
4g.6291343A>GCA356172132WFS1c.607A>G (p.Asn203Asp)
c.597A>G
c.358A>G (p.Asn120Asp)
c.406A>G (p.Asn136Asp)
c.204A>G
n.792A>G
c.616A>G (p.Asn206Asp)
gnomAD v4
4g.6291343A>TCA356172133WFS1c.607A>T (p.Asn203Tyr)
c.597A>T
c.358A>T (p.Asn120Tyr)
c.406A>T (p.Asn136Tyr)
c.204A>T
n.792A>T
c.616A>T (p.Asn206Tyr)
4g.6291344A=CA1435768633WFS1c.608A= (p.Asn203=)
c.598A=
c.359A= (p.Asn120=)
c.407A= (p.Asn136=)
c.205A=
n.793A=
c.617A= (p.Asn206=)
4g.6291344A>CCA356172134WFS1c.608A>C (p.Asn203Thr)
c.598A>C
c.359A>C (p.Asn120Thr)
c.407A>C (p.Asn136Thr)
c.205A>C
n.793A>C
c.617A>C (p.Asn206Thr)
4g.6291344A>GCA91794580WFS1c.608A>G (p.Asn203Ser)
c.598A>G
c.359A>G (p.Asn120Ser)
c.407A>G (p.Asn136Ser)
c.205A>G
n.793A>G
c.617A>G (p.Asn206Ser)
dbSNP
4g.6291344A>TCA356172135WFS1c.608A>T (p.Asn203Ile)
c.598A>T
c.359A>T (p.Asn120Ile)
c.407A>T (p.Asn136Ile)
c.205A>T
n.793A>T
c.617A>T (p.Asn206Ile)
4g.6291345T>ACA356172136WFS1c.609T>A (p.Asn203Lys)
c.599T>A
c.360T>A (p.Asn120Lys)
c.408T>A (p.Asn136Lys)
c.206T>A
n.794T>A
c.618T>A (p.Asn206Lys)
gnomAD v4
4g.6291345T>CCA2838949WFS1c.609T>C (p.Asn203=)
c.599T>C
c.360T>C (p.Asn120=)
c.408T>C (p.Asn136=)
c.206T>C
n.794T>C
c.618T>C (p.Asn206=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6291345T>GCA356172137WFS1c.609T>G (p.Asn203Lys)
c.599T>G
c.360T>G (p.Asn120Lys)
c.408T>G (p.Asn136Lys)
c.206T>G
n.794T>G
c.618T>G (p.Asn206Lys)
4g.6291345T=CA1435768634WFS1c.609T= (p.Asn203=)
c.599T=
c.360T= (p.Asn120=)
c.408T= (p.Asn136=)
c.206T=
n.794T=
c.618T= (p.Asn206=)
4g.6291346G>ACA356172140WFS1c.610G>A (p.Val204Ile)
c.600G>A
c.361G>A (p.Val121Ile)
c.409G>A (p.Val137Ile)
c.207G>A
n.795G>A
c.619G>A (p.Val207Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6291346G>CCA356172139WFS1c.610G>C (p.Val204Leu)
c.600G>C
c.361G>C (p.Val121Leu)
c.409G>C (p.Val137Leu)
c.207G>C
n.795G>C
c.619G>C (p.Val207Leu)
4g.6291346G=CA1435768635WFS1c.610G= (p.Val204=)
c.600G=
c.361G= (p.Val121=)
c.409G= (p.Val137=)
c.207G=
n.795G=
c.619G= (p.Val207=)
4g.6291346G>TCA356172138WFS1c.610G>T (p.Val204Phe)
c.600G>T
c.361G>T (p.Val121Phe)
c.409G>T (p.Val137Phe)
c.207G>T
n.795G>T
c.619G>T (p.Val207Phe)
4g.6291347T>ACA356172141WFS1c.611T>A (p.Val204Asp)
c.601T>A
c.362T>A (p.Val121Asp)
c.410T>A (p.Val137Asp)
c.208T>A
n.796T>A
c.620T>A (p.Val207Asp)
4g.6291347T>CCA356172142WFS1c.611T>C (p.Val204Ala)
c.601T>C
c.362T>C (p.Val121Ala)
c.410T>C (p.Val137Ala)
c.208T>C
n.796T>C
c.620T>C (p.Val207Ala)
4g.6291347T>GCA356172143WFS1c.611T>G (p.Val204Gly)
c.601T>G
c.362T>G (p.Val121Gly)
c.410T>G (p.Val137Gly)
c.208T>G
n.796T>G
c.620T>G (p.Val207Gly)
4g.6291348C>ACA438211012WFS1c.612C>A (p.Val204=)
c.602C>A
c.363C>A (p.Val121=)
c.411C>A (p.Val137=)
c.209C>A
n.797C>A
c.621C>A (p.Val207=)
4g.6291348C=CA1435768636WFS1c.612C= (p.Val204=)
c.602C=
c.363C= (p.Val121=)
c.411C= (p.Val137=)
c.209C=
n.797C=
c.621C= (p.Val207=)
4g.6291348C>GCA438211013WFS1c.612C>G (p.Val204=)
c.602C>G
c.363C>G (p.Val121=)
c.411C>G (p.Val137=)
c.209C>G
n.797C>G
c.621C>G (p.Val207=)
4g.6291348C>TCA2838950WFS1c.612C>T (p.Val204=)
c.602C>T
c.363C>T (p.Val121=)
c.411C>T (p.Val137=)
c.209C>T
n.797C>T
c.621C>T (p.Val207=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6291349G>ACA2838951WFS1c.613G>A (p.Gly205Ser)
c.603G>A
c.364G>A (p.Gly122Ser)
c.412G>A (p.Gly138Ser)
c.210G>A
n.798G>A
c.622G>A (p.Gly208Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6291349G>CCA356172144WFS1c.613G>C (p.Gly205Arg)
c.603G>C
c.364G>C (p.Gly122Arg)
c.412G>C (p.Gly138Arg)
c.210G>C
n.798G>C
c.622G>C (p.Gly208Arg)
4g.6291349G=CA1435768637WFS1c.613G= (p.Gly205=)
c.603G=
c.364G= (p.Gly122=)
c.412G= (p.Gly138=)
c.210G=
n.798G=
c.622G= (p.Gly208=)
4g.6291349G>TCA356172145WFS1c.613G>T (p.Gly205Cys)
c.603G>T
c.364G>T (p.Gly122Cys)
c.412G>T (p.Gly138Cys)
c.210G>T
n.798G>T
c.622G>T (p.Gly208Cys)
gnomAD v4
4g.6291350G>ACA356172146WFS1c.614G>A (p.Gly205Asp)
c.604G>A
c.365G>A (p.Gly122Asp)
c.413G>A (p.Gly138Asp)
c.211G>A
n.799G>A
c.623G>A (p.Gly208Asp)
dbSNP gnomAD v4
4g.6291350G>CCA356172147WFS1c.614G>C (p.Gly205Ala)
c.604G>C
c.365G>C (p.Gly122Ala)
c.413G>C (p.Gly138Ala)
c.211G>C
n.799G>C
c.623G>C (p.Gly208Ala)
4g.6291350G=CA1435768638WFS1c.614G= (p.Gly205=)
c.604G=
c.365G= (p.Gly122=)
c.413G= (p.Gly138=)
c.211G=
n.799G=
c.623G= (p.Gly208=)
4g.6291350G>TCA356172148WFS1c.614G>T (p.Gly205Val)
c.604G>T
c.365G>T (p.Gly122Val)
c.413G>T (p.Gly138Val)
c.211G>T
n.799G>T
c.623G>T (p.Gly208Val)
dbSNP gnomAD v4
4g.6291351C>ACA438211015WFS1c.615C>A (p.Gly205=)
c.605C>A
c.366C>A (p.Gly122=)
c.414C>A (p.Gly138=)
c.212C>A
n.800C>A
c.624C>A (p.Gly208=)
4g.6291351C=CA1435768639WFS1c.615C= (p.Gly205=)
c.605C=
c.366C= (p.Gly122=)
c.414C= (p.Gly138=)
c.212C=
n.800C=
c.624C= (p.Gly208=)
4g.6291351C>GCA438211014WFS1c.615C>G (p.Gly205=)
c.605C>G
c.366C>G (p.Gly122=)
c.414C>G (p.Gly138=)
c.212C>G
n.800C>G
c.624C>G (p.Gly208=)
ClinVar dbSNP
4g.6291351C>TCA91794581WFS1c.615C>T (p.Gly205=)
c.605C>T
c.366C>T (p.Gly122=)
c.414C>T (p.Gly138=)
c.212C>T
n.800C>T
c.624C>T (p.Gly208=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.6291352C>ACA356172149WFS1c.616C>A (p.Gln206Lys)
c.606C>A
c.367C>A (p.Gln123Lys)
c.415C>A (p.Gln139Lys)
c.213C>A
n.801C>A
c.625C>A (p.Gln209Lys)
4g.6291352C>GCA356172150WFS1c.616C>G (p.Gln206Glu)
c.606C>G
c.367C>G (p.Gln123Glu)
c.415C>G (p.Gln139Glu)
c.213C>G
n.801C>G
c.625C>G (p.Gln209Glu)
4g.6291352C>TCA356172151WFS1c.616C>T (p.Gln206Ter)
c.606C>T
c.367C>T (p.Gln123Ter)
c.415C>T (p.Gln139Ter)
c.213C>T
n.801C>T
c.625C>T (p.Gln209Ter)
4g.6291353A>CCA356172152WFS1c.617A>C (p.Gln206Pro)
c.607A>C
c.368A>C (p.Gln123Pro)
c.416A>C (p.Gln139Pro)
c.214A>C
n.802A>C
c.626A>C (p.Gln209Pro)
4g.6291353A>GCA356172154WFS1c.617A>G (p.Gln206Arg)
c.607A>G
c.368A>G (p.Gln123Arg)
c.416A>G (p.Gln139Arg)
c.214A>G
n.802A>G
c.626A>G (p.Gln209Arg)
4g.6291353A>TCA356172153WFS1c.617A>T (p.Gln206Leu)
c.607A>T
c.368A>T (p.Gln123Leu)
c.416A>T (p.Gln139Leu)
c.214A>T
n.802A>T
c.626A>T (p.Gln209Leu)
4g.6291354G>ACA438211016WFS1c.618G>A (p.Gln206=)
c.608G>A
c.369G>A (p.Gln123=)
c.417G>A (p.Gln139=)
c.215G>A
n.803G>A
c.627G>A (p.Gln209=)
dbSNP
4g.6291354G>CCA356172155WFS1c.618G>C (p.Gln206His)
c.608G>C
c.369G>C (p.Gln123His)
c.417G>C (p.Gln139His)
c.215G>C
n.803G>C
c.627G>C (p.Gln209His)
dbSNP gnomAD v4
4g.6291354G=CA1435768640WFS1c.618G= (p.Gln206=)
c.608G=
c.369G= (p.Gln123=)
c.417G= (p.Gln139=)
c.215G=
n.803G=
c.627G= (p.Gln209=)
4g.6291354G>TCA356172156WFS1c.618G>T (p.Gln206His)
c.608G>T
c.369G>T (p.Gln123His)
c.417G>T (p.Gln139His)
c.215G>T
n.803G>T
c.627G>T (p.Gln209His)
4g.6291355G>ACA356172157WFS1c.619G>A (p.Val207Ile)
c.608+1G>A
c.370G>A (p.Val124Ile)
c.418G>A (p.Val140Ile)
c.216G>A
n.804G>A
c.628G>A (p.Val210Ile)
4g.6291355G>CCA356172158WFS1c.619G>C (p.Val207Leu)
c.608+1G>C
c.370G>C (p.Val124Leu)
c.418G>C (p.Val140Leu)
c.216G>C
n.804G>C
c.628G>C (p.Val210Leu)
4g.6291355G=CA1435768641WFS1c.619G= (p.Val207=)
c.608+1G=
c.370G= (p.Val124=)
c.418G= (p.Val140=)
c.216G=
n.804G=
c.628G= (p.Val210=)
4g.6291355G>TCA356172159WFS1c.619G>T (p.Val207Phe)
c.608+1G>T
c.370G>T (p.Val124Phe)
c.418G>T (p.Val140Phe)
c.216G>T
n.804G>T
c.628G>T (p.Val210Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6291356T>ACA356172160WFS1c.620T>A (p.Val207Asp)
c.608+2T>A
c.371T>A (p.Val124Asp)
c.419T>A (p.Val140Asp)
c.217T>A
n.805T>A
c.629T>A (p.Val210Asp)
4g.6291356T>CCA356172161WFS1c.620T>C (p.Val207Ala)
c.608+2T>C
c.371T>C (p.Val124Ala)
c.419T>C (p.Val140Ala)
c.217T>C
n.805T>C
c.629T>C (p.Val210Ala)
4g.6291356T>GCA356172162WFS1c.620T>G (p.Val207Gly)
c.608+2T>G
c.371T>G (p.Val124Gly)
c.419T>G (p.Val140Gly)
c.217T>G
n.805T>G
c.629T>G (p.Val210Gly)
4g.6291356_6291357delCA645515481WFS1c.620_621del (p.Val207GlufsTer?)
c.608+2_608+3del
c.371_372del (p.Val124GlufsTer?)
c.419_420del (p.Val140GlufsTer?)
c.217_218del
n.805_806del
c.629_630del (p.Val210GlufsTer?)
COSMIC
4g.6291357C>ACA438211018WFS1c.621C>A (p.Val207=)
c.608+3C>A
c.372C>A (p.Val124=)
c.420C>A (p.Val140=)
c.218C>A
n.806C>A
c.630C>A (p.Val210=)
4g.6291357C=CA1435768642WFS1c.621C= (p.Val207=)
c.608+3C=
c.372C= (p.Val124=)
c.420C= (p.Val140=)
c.218C=
n.806C=
c.630C= (p.Val210=)
4g.6291357C>GCA438211019WFS1c.621C>G (p.Val207=)
c.608+3C>G
c.372C>G (p.Val124=)
c.420C>G (p.Val140=)
c.218C>G
n.806C>G
c.630C>G (p.Val210=)
dbSNP
4g.6291357C>TCA438211020WFS1c.621C>T (p.Val207=)
c.608+3C>T
c.372C>T (p.Val124=)
c.420C>T (p.Val140=)
c.218C>T
n.806C>T
c.630C>T (p.Val210=)
4g.6291358A>CCA356172163WFS1c.622A>C (p.Asn208His)
c.608+4A>C
c.373A>C (p.Asn125His)
c.421A>C (p.Asn141His)
c.219A>C
n.807A>C
c.631A>C (p.Asn211His)
4g.6291358A>GCA356172164WFS1c.622A>G (p.Asn208Asp)
c.608+4A>G
c.373A>G (p.Asn125Asp)
c.421A>G (p.Asn141Asp)
c.219A>G
n.807A>G
c.631A>G (p.Asn211Asp)
COSMIC
4g.6291358A>TCA356172165WFS1c.622A>T (p.Asn208Tyr)
c.608+4A>T
c.373A>T (p.Asn125Tyr)
c.421A>T (p.Asn141Tyr)
c.219A>T
n.807A>T
c.631A>T (p.Asn211Tyr)
4g.6291359A=CA1435768643WFS1c.623A= (p.Asn208=)
c.608+5A=
c.374A= (p.Asn125=)
c.422A= (p.Asn141=)
c.220A=
n.808A=
c.632A= (p.Asn211=)
4g.6291359A>CCA2838952WFS1c.623A>C (p.Asn208Thr)
c.608+5A>C
c.374A>C (p.Asn125Thr)
c.422A>C (p.Asn141Thr)
c.220A>C
n.808A>C
c.632A>C (p.Asn211Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6291359A>GCA356172167WFS1c.623A>G (p.Asn208Ser)
c.608+5A>G
c.374A>G (p.Asn125Ser)
c.422A>G (p.Asn141Ser)
c.220A>G
n.808A>G
c.632A>G (p.Asn211Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6291359A>TCA356172166WFS1c.623A>T (p.Asn208Ile)
c.608+5A>T
c.374A>T (p.Asn125Ile)
c.422A>T (p.Asn141Ile)
c.220A>T
n.808A>T
c.632A>T (p.Asn211Ile)
4g.6291360C>ACA356172169WFS1c.624C>A (p.Asn208Lys)
c.608+6C>A
c.375C>A (p.Asn125Lys)
c.423C>A (p.Asn141Lys)
c.221C>A
n.809C>A
c.633C>A (p.Asn211Lys)
4g.6291360C=CA1435768644WFS1c.624C= (p.Asn208=)
c.608+6C=
c.375C= (p.Asn125=)
c.423C= (p.Asn141=)
c.221C=
n.809C=
c.633C= (p.Asn211=)
4g.6291360C>GCA356172168WFS1c.624C>G (p.Asn208Lys)
c.608+6C>G
c.375C>G (p.Asn125Lys)
c.423C>G (p.Asn141Lys)
c.221C>G
n.809C>G
c.633C>G (p.Asn211Lys)
4g.6291360C>TCA2838953WFS1c.624C>T (p.Asn208=)
c.608+6C>T
c.375C>T (p.Asn125=)
c.423C>T (p.Asn141=)
c.221C>T
n.809C>T
c.633C>T (p.Asn211=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6291361G>ACA2838954WFS1c.625G>A (p.Glu209Lys)
c.608+7G>A
c.376G>A (p.Glu126Lys)
c.424G>A (p.Glu142Lys)
c.222G>A
n.810G>A
c.634G>A (p.Glu212Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6291361G>CCA356172170WFS1c.625G>C (p.Glu209Gln)
c.608+7G>C
c.376G>C (p.Glu126Gln)
c.424G>C (p.Glu142Gln)
c.222G>C
n.810G>C
c.634G>C (p.Glu212Gln)
4g.6291361G=CA1435768645WFS1c.625G= (p.Glu209=)
c.608+7G=
c.376G= (p.Glu126=)
c.424G= (p.Glu142=)
c.222G=
n.810G=
c.634G= (p.Glu212=)
4g.6291361G>TCA356172171WFS1c.625G>T (p.Glu209Ter)
c.608+7G>T
c.376G>T (p.Glu126Ter)
c.424G>T (p.Glu142Ter)
c.222G>T
n.810G>T
c.634G>T (p.Glu212Ter)
gnomAD v4
4g.6291362A>CCA356172172WFS1c.626A>C (p.Glu209Ala)
c.608+8A>C
c.377A>C (p.Glu126Ala)
c.425A>C (p.Glu142Ala)
c.223A>C
n.811A>C
c.635A>C (p.Glu212Ala)
4g.6291362A>GCA356172173WFS1c.626A>G (p.Glu209Gly)
c.608+8A>G
c.377A>G (p.Glu126Gly)
c.425A>G (p.Glu142Gly)
c.223A>G
n.811A>G
c.635A>G (p.Glu212Gly)
4g.6291362A>TCA356172174WFS1c.626A>T (p.Glu209Val)
c.608+8A>T
c.377A>T (p.Glu126Val)
c.425A>T (p.Glu142Val)
c.223A>T
n.811A>T
c.635A>T (p.Glu212Val)
4g.6291363G>ACA438211021WFS1c.627G>A (p.Glu209=)
c.608+9G>A
c.378G>A (p.Glu126=)
c.426G>A (p.Glu142=)
c.224G>A
n.812G>A
c.636G>A (p.Glu212=)
gnomAD v4
4g.6291363G>CCA356172175WFS1c.627G>C (p.Glu209Asp)
c.608+9G>C
c.378G>C (p.Glu126Asp)
c.426G>C (p.Glu142Asp)
c.224G>C
n.812G>C
c.636G>C (p.Glu212Asp)
4g.6291363G>TCA356172176WFS1c.627G>T (p.Glu209Asp)
c.608+9G>T
c.378G>T (p.Glu126Asp)
c.426G>T (p.Glu142Asp)
c.224G>T
n.812G>T
c.636G>T (p.Glu212Asp)
4g.6291364C>ACA356172177WFS1c.628C>A (p.His210Asn)
c.608+10C>A
c.379C>A (p.His127Asn)
c.427C>A (p.His143Asn)
c.225C>A
n.813C>A
c.637C>A (p.His213Asn)
4g.6291364C=CA1435768646WFS1c.628C= (p.His210=)
c.608+10C=
c.379C= (p.His127=)
c.427C= (p.His143=)
c.225C=
n.813C=
c.637C= (p.His213=)
4g.6291364C>GCA356172178WFS1c.628C>G (p.His210Asp)
c.608+10C>G
c.379C>G (p.His127Asp)
c.427C>G (p.His143Asp)
c.225C>G
n.813C>G
c.637C>G (p.His213Asp)
4g.6291364C>TCA356172179WFS1c.628C>T (p.His210Tyr)
c.608+10C>T
c.379C>T (p.His127Tyr)
c.427C>T (p.His143Tyr)
c.225C>T
n.813C>T
c.637C>T (p.His213Tyr)
dbSNP
4g.6291365A>CCA356172182WFS1c.629A>C (p.His210Pro)
c.608+11A>C
c.380A>C (p.His127Pro)
c.428A>C (p.His143Pro)
c.226A>C
n.814A>C
c.638A>C (p.His213Pro)
4g.6291365A>GCA356172180WFS1c.629A>G (p.His210Arg)
c.608+11A>G
c.380A>G (p.His127Arg)
c.428A>G (p.His143Arg)
c.226A>G
n.814A>G
c.638A>G (p.His213Arg)
4g.6291365A>TCA356172181WFS1c.629A>T (p.His210Leu)
c.608+11A>T
c.380A>T (p.His127Leu)
c.428A>T (p.His143Leu)
c.226A>T
n.814A>T
c.638A>T (p.His213Leu)
4g.6291365dupCA2669825957WFS1c.629dup (p.His210GlnfsTer?)
c.608+11dup
c.380dup (p.His127GlnfsTer?)
c.428dup (p.His143GlnfsTer?)
c.226dup
n.814dup
c.638dup (p.His213GlnfsTer?)
gnomAD v4
4g.6291366C>ACA356172183WFS1c.630C>A (p.His210Gln)
c.608+12C>A
c.381C>A (p.His127Gln)
c.429C>A (p.His143Gln)
c.227C>A
n.815C>A
c.639C>A (p.His213Gln)
4g.6291366C=CA1435768647WFS1c.630C= (p.His210=)
c.608+12C=
c.381C= (p.His127=)
c.429C= (p.His143=)
c.227C=
n.815C=
c.639C= (p.His213=)
4g.6291366C>GCA356172184WFS1c.630C>G (p.His210Gln)
c.608+12C>G
c.381C>G (p.His127Gln)
c.429C>G (p.His143Gln)
c.227C>G
n.815C>G
c.639C>G (p.His213Gln)
4g.6291366C>TCA2838955WFS1c.630C>T (p.His210=)
c.608+12C>T
c.381C>T (p.His127=)
c.429C>T (p.His143=)
c.227C>T
n.815C>T
c.639C>T (p.His213=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6291367G>ACA320894WFS1c.631G>A (p.Asp211Asn)
c.608+13G>A
c.631G>A (p.Gly211Ser)
c.382G>A (p.Asp128Asn)
c.430G>A (p.Asp144Asn)
c.228G>A
n.816G>A
c.640G>A (p.Asp214Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6291367G>CCA356172185WFS1c.631G>C (p.Asp211His)
c.608+13G>C
c.631G>C (p.Gly211Arg)
c.382G>C (p.Asp128His)
c.430G>C (p.Asp144His)
c.228G>C
n.816G>C
c.640G>C (p.Asp214His)
gnomAD v4
4g.6291367G=CA1435768648WFS1c.631G= (p.Asp211=)
c.608+13G=
c.631G= (p.Gly211=)
c.382G= (p.Asp128=)
c.430G= (p.Asp144=)
c.228G=
n.816G=
c.640G= (p.Asp214=)
4g.6291367G>TCA356172186WFS1c.631G>T (p.Asp211Tyr)
c.608+13G>T
c.631G>T (p.Gly211Cys)
c.382G>T (p.Asp128Tyr)
c.430G>T (p.Asp144Tyr)
c.228G>T
n.816G>T
c.640G>T (p.Asp214Tyr)
4g.6291368delCA2586973596WFS1c.631+1del
c.608+14del
c.632del (p.Gly211ValfsTer?)
c.382+1del
c.430+1del
c.228+1del
n.816+1del
c.640+1del

Number of alleles fetched