Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.6291263del | CA2669825845 | WFS1 | c.527del (p.Val176GlyfsTer?) c.517del c.278del (p.Val93GlyfsTer?) c.326del (p.Val109GlyfsTer?) c.401del (p.Val134GlyfsTer?) c.124del n.712del c.536del (p.Val179GlyfsTer?) | gnomAD v4 |
4 | g.6291263T>A | CA91794573 | WFS1 | c.527T>A (p.Val176Glu) c.517T>A c.278T>A (p.Val93Glu) c.326T>A (p.Val109Glu) c.401T>A (p.Val134Glu) c.124T>A n.712T>A c.536T>A (p.Val179Glu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6291263T>C | CA2838929 | WFS1 | c.527T>C (p.Val176Ala) c.517T>C c.278T>C (p.Val93Ala) c.326T>C (p.Val109Ala) c.401T>C (p.Val134Ala) c.124T>C n.712T>C c.536T>C (p.Val179Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291263T>G | CA356171967 | WFS1 | c.527T>G (p.Val176Gly) c.517T>G c.278T>G (p.Val93Gly) c.326T>G (p.Val109Gly) c.401T>G (p.Val134Gly) c.124T>G n.712T>G c.536T>G (p.Val179Gly) | |
4 | g.6291263T= | CA1435768594 | WFS1 | c.527T= (p.Val176=) c.517T= c.278T= (p.Val93=) c.326T= (p.Val109=) c.401T= (p.Val134=) c.124T= n.712T= c.536T= (p.Val179=) | |
4 | g.6291264G>A | CA438210962 | WFS1 | c.528G>A (p.Val176=) c.518G>A c.279G>A (p.Val93=) c.327G>A (p.Val109=) c.402G>A (p.Val134=) c.125G>A n.713G>A c.537G>A (p.Val179=) | |
4 | g.6291264G>C | CA438210963 | WFS1 | c.528G>C (p.Val176=) c.518G>C c.279G>C (p.Val93=) c.327G>C (p.Val109=) c.402G>C (p.Val134=) c.125G>C n.713G>C c.537G>C (p.Val179=) | |
4 | g.6291264G>T | CA438210964 | WFS1 | c.528G>T (p.Val176=) c.518G>T c.279G>T (p.Val93=) c.327G>T (p.Val109=) c.402G>T (p.Val134=) c.125G>T n.713G>T c.537G>T (p.Val179=) | gnomAD v4 |
4 | g.6291264_6291267dup | CA2580616070 | WFS1 | c.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 |
4 | g.6291265C>A | CA2838930 | WFS1 | c.529C>A (p.Arg177Ser) c.519C>A c.280C>A (p.Arg94Ser) c.328C>A (p.Arg110Ser) c.403C>A (p.Arg135Ser) c.126C>A n.714C>A c.538C>A (p.Arg180Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6291265C= | CA1435768595 | WFS1 | c.529C= (p.Arg177=) c.519C= c.280C= (p.Arg94=) c.328C= (p.Arg110=) c.403C= (p.Arg135=) c.126C= n.714C= c.538C= (p.Arg180=) | |
4 | g.6291265C>G | CA356171968 | WFS1 | c.529C>G (p.Arg177Gly) c.519C>G c.280C>G (p.Arg94Gly) c.328C>G (p.Arg110Gly) c.403C>G (p.Arg135Gly) c.126C>G n.714C>G c.538C>G (p.Arg180Gly) | |
4 | g.6291265C>T | CA91794574 | WFS1 | c.529C>T (p.Arg177Cys) c.519C>T c.280C>T (p.Arg94Cys) c.328C>T (p.Arg110Cys) c.403C>T (p.Arg135Cys) c.126C>T n.714C>T c.538C>T (p.Arg180Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
4 | g.6291266G>A | CA2838931 | WFS1 | c.530G>A (p.Arg177His) c.520G>A c.281G>A (p.Arg94His) c.329G>A (p.Arg110His) c.404G>A (p.Arg135His) c.127G>A n.715G>A c.539G>A (p.Arg180His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6291266G>C | CA356171969 | WFS1 | c.530G>C (p.Arg177Pro) c.520G>C c.281G>C (p.Arg94Pro) c.329G>C (p.Arg110Pro) c.404G>C (p.Arg135Pro) c.127G>C n.715G>C c.539G>C (p.Arg180Pro) | |
4 | g.6291266G= | CA1435768596 | WFS1 | c.530G= (p.Arg177=) c.520G= c.281G= (p.Arg94=) c.329G= (p.Arg110=) c.404G= (p.Arg135=) c.127G= n.715G= c.539G= (p.Arg180=) | |
4 | g.6291266G>T | CA356171970 | WFS1 | c.530G>T (p.Arg177Leu) c.520G>T c.281G>T (p.Arg94Leu) c.329G>T (p.Arg110Leu) c.404G>T (p.Arg135Leu) c.127G>T n.715G>T c.539G>T (p.Arg180Leu) | gnomAD v4 |
4 | g.6291267C>A | CA438210965 | WFS1 | c.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=) | |
4 | g.6291267C>G | CA438210966 | WFS1 | c.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=) | |
4 | g.6291267C>T | CA438210967 | WFS1 | c.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=) | |
4 | g.6291268A>C | CA356171973 | WFS1 | c.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) | |
4 | g.6291268A>G | CA356171972 | WFS1 | c.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) | |
4 | g.6291268A>T | CA356171971 | WFS1 | c.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) | |
4 | g.6291268_6291273del | CA2586973594 | WFS1 | c.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) | |
4 | g.6291269A>C | CA356171974 | WFS1 | c.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) | |
4 | g.6291269A>G | CA356171975 | WFS1 | c.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) | |
4 | g.6291269A>T | CA356171976 | WFS1 | c.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) | |
4 | g.6291269_6291274del | CA2586973595 | WFS1 | c.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) | |
4 | g.6291270G>A | CA438210968 | WFS1 | c.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=) | |
4 | g.6291270G>C | CA356171977 | WFS1 | c.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) | |
4 | g.6291270G>T | CA356171978 | WFS1 | c.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) | |
4 | g.6291271G>A | CA2838932 | WFS1 | c.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 |
4 | g.6291271G>C | CA356171980 | WFS1 | c.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) | |
4 | g.6291271G= | CA1435768597 | WFS1 | c.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=) | |
4 | g.6291271G>T | CA356171979 | WFS1 | c.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) | |
4 | g.6291272C>A | CA356171981 | WFS1 | c.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) | |
4 | g.6291272C>G | CA356171982 | WFS1 | c.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) | |
4 | g.6291272C>T | CA356171983 | WFS1 | c.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 |
4 | g.6291273A= | CA1435768598 | WFS1 | c.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=) | |
4 | g.6291273A>C | CA438210969 | WFS1 | c.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 |
4 | g.6291273A>G | CA438210970 | WFS1 | c.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=) | |
4 | g.6291273A>T | CA438210971 | WFS1 | c.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=) | |
4 | g.6291274G>A | CA356171984 | WFS1 | c.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) | |
4 | g.6291274G>C | CA356171985 | WFS1 | c.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) | |
4 | g.6291274G>T | CA356171986 | WFS1 | c.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) | |
4 | g.6291275C>A | CA91794575 | WFS1 | c.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 |
4 | g.6291275C= | CA1435768599 | WFS1 | c.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=) | |
4 | g.6291275C>G | CA356171988 | WFS1 | c.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) | |
4 | g.6291275C>T | CA356171987 | WFS1 | c.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) | |
4 | g.6291276C>A | CA438210972 | WFS1 | c.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=) | |
4 | g.6291276C= | CA1435768600 | WFS1 | c.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=) | |
4 | g.6291276C>G | CA438210974 | WFS1 | c.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=) | |
4 | g.6291276C>T | CA438210973 | WFS1 | c.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 |
4 | g.6291277C>A | CA356171989 | WFS1 | c.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) | |
4 | g.6291277C= | CA1435768601 | WFS1 | c.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=) | |
4 | g.6291277C>G | CA356171990 | WFS1 | c.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) | |
4 | g.6291277C>T | CA2838933 | WFS1 | c.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 |
4 | g.6291278T>A | CA356171991 | WFS1 | c.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 |
4 | g.6291278T>C | CA356171992 | WFS1 | c.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 |
4 | g.6291278T>G | CA356171993 | WFS1 | c.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) | |
4 | g.6291279G>A | CA438210975 | WFS1 | c.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 |
4 | g.6291279G>C | CA2838934 | WFS1 | c.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 |
4 | g.6291279G= | CA1435768602 | WFS1 | c.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=) | |
4 | g.6291279G>T | CA438210976 | WFS1 | c.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=) | |
4 | g.6291280G>A | CA356171994 | WFS1 | c.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) | |
4 | g.6291280G>C | CA356171995 | WFS1 | c.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) | |
4 | g.6291280G>T | CA356171996 | WFS1 | c.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) | |
4 | g.6291281T>A | CA356171999 | WFS1 | c.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) | |
4 | g.6291281T>C | CA356171998 | WFS1 | c.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) | |
4 | g.6291281T>G | CA356171997 | WFS1 | c.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) | |
4 | g.6291282C>A | CA438210977 | WFS1 | c.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 |
4 | g.6291282C= | CA1435768603 | WFS1 | c.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=) | |
4 | g.6291282C>G | CA438210978 | WFS1 | c.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=) | |
4 | g.6291282C>T | CA438210979 | WFS1 | c.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 |
4 | g.6291283A= | CA1435768604 | WFS1 | c.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=) | |
4 | g.6291283A>C | CA356172000 | WFS1 | c.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) | |
4 | g.6291283A>G | CA356172002 | WFS1 | c.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 |
4 | g.6291283A>T | CA356172001 | WFS1 | c.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) | |
4 | g.6291284T>A | CA356172003 | WFS1 | c.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) | |
4 | g.6291284T>C | CA91794576 | WFS1 | c.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 |
4 | g.6291284T>G | CA356172004 | WFS1 | c.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) | |
4 | g.6291284T= | CA1435768605 | WFS1 | c.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=) | |
4 | g.6291285G>A | CA356172005 | WFS1 | c.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 |
4 | g.6291285G>C | CA356172006 | WFS1 | c.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) | |
4 | g.6291285G= | CA1435768606 | WFS1 | c.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=) | |
4 | g.6291285G>T | CA356172007 | WFS1 | c.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) | |
4 | g.6291286T>A | CA356172008 | WFS1 | c.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) | |
4 | g.6291286T>C | CA356172009 | WFS1 | c.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) | |
4 | g.6291286T>G | CA356172010 | WFS1 | c.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) | |
4 | g.6291287A>C | CA356172011 | WFS1 | c.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) | |
4 | g.6291287A>G | CA356172012 | WFS1 | c.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) | |
4 | g.6291287A>T | CA356172013 | WFS1 | c.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 |
4 | g.6291288C>A | CA356172014 | WFS1 | c.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) | |
4 | g.6291288C= | CA1435768607 | WFS1 | c.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=) | |
4 | g.6291288C>G | CA2838935 | WFS1 | c.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 |
4 | g.6291288C>T | CA438210980 | WFS1 | c.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=) | |
4 | g.6291289T>A | CA356172017 | WFS1 | c.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) | |
4 | g.6291289T>C | CA356172016 | WFS1 | c.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) | |
4 | g.6291289T>G | CA356172015 | WFS1 | c.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) | |
4 | g.6291289_6291293dup | CA2669825847 | WFS1 | c.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 |
4 | g.6291290G>A | CA2838936 | WFS1 | c.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 |
4 | g.6291290G>C | CA356172018 | WFS1 | c.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) | |
4 | g.6291290G= | CA1435768608 | WFS1 | c.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=) | |
4 | g.6291290G>T | CA356172019 | WFS1 | c.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) | |
4 | g.6291291G>A | CA356172020 | WFS1 | c.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) | |
4 | g.6291291G>C | CA356172021 | WFS1 | c.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) | |
4 | g.6291291G>T | CA356172022 | WFS1 | c.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) | |
4 | g.6291292A>C | CA356172023 | WFS1 | c.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 |
4 | g.6291292A>G | CA356172024 | WFS1 | c.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) | |
4 | g.6291292A>T | CA356172025 | WFS1 | c.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 |
4 | g.6291293A>C | CA356172026 | WFS1 | c.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) | |
4 | g.6291293A>G | CA356172027 | WFS1 | c.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) | |
4 | g.6291293A>T | CA356172028 | WFS1 | c.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) | |
4 | g.6291294G>A | CA438210981 | WFS1 | c.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=) | |
4 | g.6291294G>C | CA356172029 | WFS1 | c.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 |
4 | g.6291294G= | CA1435768609 | WFS1 | c.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=) | |
4 | g.6291294G>T | CA356172030 | WFS1 | c.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) | |
4 | g.6291295C>A | CA356172031 | WFS1 | c.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) | |
4 | g.6291295C= | CA1435768610 | WFS1 | c.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=) | |
4 | g.6291295C>G | CA356172032 | WFS1 | c.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 |
4 | g.6291295C>T | CA356172033 | WFS1 | c.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 |
4 | g.6291296T>A | CA356172034 | WFS1 | c.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) | |
4 | g.6291296T>C | CA356172035 | WFS1 | c.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) | |
4 | g.6291296T>G | CA356172036 | WFS1 | c.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) | |
4 | g.6291297C>A | CA438210982 | WFS1 | c.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=) | |
4 | g.6291297C>G | CA438210983 | WFS1 | c.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=) | |
4 | g.6291297C>T | CA438210984 | WFS1 | c.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=) | |
4 | g.6291298A>C | CA356172039 | WFS1 | c.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 |
4 | g.6291298A>G | CA356172037 | WFS1 | c.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) | |
4 | g.6291298A>T | CA356172038 | WFS1 | c.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) | |
4 | g.6291299A>C | CA356172040 | WFS1 | c.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) | |
4 | g.6291299A>G | CA356172041 | WFS1 | c.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) | |
4 | g.6291299A>T | CA356172042 | WFS1 | c.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) | |
4 | g.6291300C>A | CA356172043 | WFS1 | c.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 |
4 | g.6291300C>G | CA356172044 | WFS1 | c.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) | |
4 | g.6291300C>T | CA438210985 | WFS1 | c.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=) | |
4 | g.6291301C>A | CA356172045 | WFS1 | c.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) | |
4 | g.6291301C= | CA1435768611 | WFS1 | c.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=) | |
4 | g.6291301C>G | CA356172047 | WFS1 | c.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 |
4 | g.6291301C>T | CA356172046 | WFS1 | c.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 |
4 | g.6291302C>A | CA356172048 | WFS1 | c.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) | |
4 | g.6291302C>G | CA356172049 | WFS1 | c.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) | |
4 | g.6291302C>T | CA356172050 | WFS1 | c.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) | |
4 | g.6291303C>A | CA438210986 | WFS1 | c.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 |
4 | g.6291303C= | CA1435768613 | WFS1 | c.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=) | |
4 | g.6291303C>G | CA438210987 | WFS1 | c.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 |
4 | g.6291303C>T | CA438210988 | WFS1 | c.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 |
4 | g.6291303_6291306delinsCAAG | CA1435768612 | WFS1 | c.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=) | |
4 | g.6291304A= | CA1435768614 | WFS1 | c.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=) | |
4 | g.6291304A>C | CA2838939 | WFS1 | c.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 |
4 | g.6291304A>G | CA91794577 | WFS1 | c.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 |
4 | g.6291304A>T | CA356172051 | WFS1 | c.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) | |
4 | g.6291313_6291315dup | CA2838938 | WFS1 | c.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 |
4 | g.6291313_6291315del | CA2838937 | WFS1 | c.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 |
4 | g.6291305A>C | CA356172052 | WFS1 | c.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) | |
4 | g.6291305A>G | CA356172053 | WFS1 | c.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 |
4 | g.6291305A>T | CA356172054 | WFS1 | c.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) | |
4 | g.6291306G>A | CA438210989 | WFS1 | c.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=) | |
4 | g.6291306G>C | CA356172055 | WFS1 | c.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) | |
4 | g.6291306G>T | CA356172056 | WFS1 | c.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) | |
4 | g.6291307A>C | CA356172057 | WFS1 | c.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) | |
4 | g.6291307A>G | CA356172059 | WFS1 | c.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) | |
4 | g.6291307A>T | CA356172058 | WFS1 | c.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) | |
4 | g.6291308A= | CA1435768615 | WFS1 | c.572A= (p.Lys191=) c.562A= c.323A= (p.Lys108=) c.371A= (p.Lys124=) c.446A= c.169A= n.757A= c.581A= (p.Lys194=) | |
4 | g.6291308A>C | CA356172060 | WFS1 | c.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) | |
4 | g.6291308A>G | CA2838940 | WFS1 | c.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 |
4 | g.6291308A>T | CA356172061 | WFS1 | c.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) | |
4 | g.6291309G>A | CA2838941 | WFS1 | c.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 |
4 | g.6291309G>C | CA356172062 | WFS1 | c.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) | |
4 | g.6291309G= | CA1435768616 | WFS1 | c.573G= (p.Lys191=) c.563G= c.324G= (p.Lys108=) c.372G= (p.Lys124=) c.170G= n.758G= c.582G= (p.Lys194=) | |
4 | g.6291309G>T | CA356172063 | WFS1 | c.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 |
4 | g.6291310A= | CA1435768617 | WFS1 | c.574A= (p.Lys192=) c.564A= c.325A= (p.Lys109=) c.373A= (p.Lys125=) c.171A= n.759A= c.583A= (p.Lys195=) | |
4 | g.6291310A>C | CA356172064 | WFS1 | c.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 |
4 | g.6291310A>G | CA356172065 | WFS1 | c.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) | |
4 | g.6291310A>T | CA356172066 | WFS1 | c.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) | |
4 | g.6291311A= | CA1435768618 | WFS1 | c.575A= (p.Lys192=) c.565A= c.326A= (p.Lys109=) c.374A= (p.Lys125=) c.172A= n.760A= c.584A= (p.Lys195=) | |
4 | g.6291311A>C | CA356172067 | WFS1 | c.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 |
4 | g.6291311A>G | CA356172068 | WFS1 | c.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 |
4 | g.6291311A>T | CA356172069 | WFS1 | c.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) | |
4 | g.6291312G>A | CA438210990 | WFS1 | c.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=) | |
4 | g.6291312G>C | CA356172070 | WFS1 | c.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) | |
4 | g.6291312G= | CA1435768619 | WFS1 | c.576G= (p.Lys192=) c.566G= c.327G= (p.Lys109=) c.375G= (p.Lys125=) c.173G= n.761G= c.585G= (p.Lys195=) | |
4 | g.6291312G>T | CA356172071 | WFS1 | c.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) | |
4 | g.6291313A= | CA1435768620 | WFS1 | c.577A= (p.Lys193=) c.567A= c.328A= (p.Lys110=) c.376A= (p.Lys126=) c.174A= n.762A= c.586A= (p.Lys196=) | |
4 | g.6291313A>C | CA295799 | WFS1 | c.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 |
4 | g.6291313A>G | CA356172072 | WFS1 | c.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 |
4 | g.6291313A>T | CA356172073 | WFS1 | c.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) | |
4 | g.6291314dup | CA2838942 | WFS1 | c.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 |
4 | g.6291314A= | CA1435768621 | WFS1 | c.578A= (p.Lys193=) c.568A= c.329A= (p.Lys110=) c.377A= (p.Lys126=) c.175A= n.763A= c.587A= (p.Lys196=) | |
4 | g.6291314A>C | CA356172074 | WFS1 | c.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) | |
4 | g.6291314A>G | CA16609250 | WFS1 | c.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 |
4 | g.6291314A>T | CA356172075 | WFS1 | c.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) | |
4 | g.6291315_6291316insGAG | CA2838943 | WFS1 | c.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 |
4 | g.6291315G>A | CA438210991 | WFS1 | c.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=) | |
4 | g.6291315G>C | CA356172076 | WFS1 | c.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) | |
4 | g.6291315G>T | CA356172077 | WFS1 | c.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) | |
4 | g.6291316C>A | CA356172078 | WFS1 | c.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 |
4 | g.6291316C>G | CA356172079 | WFS1 | c.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 |
4 | g.6291316C>T | CA356172080 | WFS1 | c.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 |
4 | g.6291317A>C | CA356172081 | WFS1 | c.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) | |
4 | g.6291317A>G | CA356172083 | WFS1 | c.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) | |
4 | g.6291317A>T | CA356172082 | WFS1 | c.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) | |
4 | g.6291318G>A | CA438210992 | WFS1 | c.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 |
4 | g.6291318G>C | CA356172084 | WFS1 | c.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 |
4 | g.6291318G= | CA1435768622 | WFS1 | c.582G= (p.Gln194=) c.572G= c.333G= (p.Gln111=) c.381G= (p.Gln127=) c.179G= n.767G= c.591G= (p.Gln197=) | |
4 | g.6291318G>T | CA356172085 | WFS1 | c.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 |
4 | g.6291319G>A | CA356172086 | WFS1 | c.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 |
4 | g.6291319G>C | CA356172087 | WFS1 | c.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) | |
4 | g.6291319G= | CA1435768623 | WFS1 | c.583G= (p.Val195=) c.573G= c.334G= (p.Val112=) c.382G= (p.Val128=) c.180G= n.768G= c.592G= (p.Val198=) | |
4 | g.6291319G>T | CA356172088 | WFS1 | c.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) | |
4 | g.6291320T>A | CA356172089 | WFS1 | c.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) | |
4 | g.6291320T>C | CA356172090 | WFS1 | c.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 |
4 | g.6291320T>G | CA356172091 | WFS1 | c.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) | |
4 | g.6291321G>A | CA438210993 | WFS1 | c.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=) | |
4 | g.6291321G>C | CA438210994 | WFS1 | c.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=) | |
4 | g.6291321G>T | CA438210995 | WFS1 | c.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 |
4 | g.6291322G>A | CA356172092 | WFS1 | c.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 |
4 | g.6291322G>C | CA356172093 | WFS1 | c.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) | |
4 | g.6291322G>T | CA356172094 | WFS1 | c.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) | |
4 | g.6291323C>A | CA356172097 | WFS1 | c.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) | |
4 | g.6291323C>G | CA356172096 | WFS1 | c.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) | |
4 | g.6291323C>T | CA356172095 | WFS1 | c.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 |
4 | g.6291324C>A | CA438210996 | WFS1 | c.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 |
4 | g.6291324C= | CA1435768624 | WFS1 | c.588C= (p.Ala196=) c.578C= c.339C= (p.Ala113=) c.387C= (p.Ala129=) c.185C= n.773C= c.597C= (p.Ala199=) | |
4 | g.6291324C>G | CA438210997 | WFS1 | c.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=) | |
4 | g.6291324C>T | CA2838944 | WFS1 | c.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 |
4 | g.6291325G>A | CA356172098 | WFS1 | c.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 |
4 | g.6291325G>C | CA356172099 | WFS1 | c.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) | |
4 | g.6291325G= | CA1435768625 | WFS1 | c.589G= (p.Val197=) c.579G= c.340G= (p.Val114=) c.388G= (p.Val130=) c.186G= n.774G= c.598G= (p.Val200=) | |
4 | g.6291325G>T | CA356172100 | WFS1 | c.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) | |
4 | g.6291326T>A | CA356172101 | WFS1 | c.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) | |
4 | g.6291326T>C | CA356172102 | WFS1 | c.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) | |
4 | g.6291326T>G | CA356172103 | WFS1 | c.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) | |
4 | g.6291327G>A | CA91794578 | WFS1 | c.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 |
4 | g.6291327G>C | CA438210998 | WFS1 | c.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=) | |
4 | g.6291327G= | CA1435768626 | WFS1 | c.591G= (p.Val197=) c.581G= c.342G= (p.Val114=) c.390G= (p.Val130=) c.188G= n.776G= c.600G= (p.Val200=) | |
4 | g.6291327G>T | CA438210999 | WFS1 | c.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=) | |
4 | g.6291328G>A | CA356172104 | WFS1 | c.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 |
4 | g.6291328G>C | CA356172105 | WFS1 | c.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) | |
4 | g.6291328G>T | CA356172106 | WFS1 | c.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 |
4 | g.6291329C>A | CA356172107 | WFS1 | c.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) | |
4 | g.6291329C= | CA1435768627 | WFS1 | c.593C= (p.Ala198=) c.583C= c.344C= (p.Ala115=) c.392C= (p.Ala131=) c.190C= n.778C= c.602C= (p.Ala201=) | |
4 | g.6291329C>G | CA356172108 | WFS1 | c.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) | |
4 | g.6291329C>T | CA91794579 | WFS1 | c.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 |
4 | g.6291330G>A | CA2838945 | WFS1 | c.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 |
4 | g.6291330G>C | CA438211000 | WFS1 | c.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 |
4 | g.6291330G= | CA1435768628 | WFS1 | c.594G= (p.Ala198=) c.584G= c.345G= (p.Ala115=) c.393G= (p.Ala131=) c.191G= n.779G= c.603G= (p.Ala201=) | |
4 | g.6291330G>T | CA438211001 | WFS1 | c.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=) | |
4 | g.6291331G>A | CA356172109 | WFS1 | c.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) | |
4 | g.6291331G>C | CA2838946 | WFS1 | c.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 |
4 | g.6291331G= | CA1435768629 | WFS1 | c.595G= (p.Glu199=) c.585G= c.346G= (p.Glu116=) c.394G= (p.Glu132=) c.192G= n.780G= c.604G= (p.Glu202=) | |
4 | g.6291331G>T | CA356172110 | WFS1 | c.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) | |
4 | g.6291332A>C | CA356172111 | WFS1 | c.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) | |
4 | g.6291332A>G | CA356172113 | WFS1 | c.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 |
4 | g.6291332A>T | CA356172112 | WFS1 | c.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) | |
4 | g.6291333G>A | CA438211002 | WFS1 | c.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=) | |
4 | g.6291333G>C | CA356172114 | WFS1 | c.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) | |
4 | g.6291333G>T | CA356172115 | WFS1 | c.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) | |
4 | g.6291334C>A | CA356172116 | WFS1 | c.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) | |
4 | g.6291334C>G | CA356172117 | WFS1 | c.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) | |
4 | g.6291334C>T | CA438211003 | WFS1 | c.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=) | |
4 | g.6291335del | CA2578035748 | WFS1 | c.599del (p.Leu200ArgfsTer?) c.589del c.350del (p.Leu117ArgfsTer?) c.398del (p.Leu133ArgfsTer?) c.196del n.784del c.608del (p.Leu203ArgfsTer?) | ClinVar gnomAD v4 |
4 | g.6291335T>A | CA356172118 | WFS1 | c.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) | |
4 | g.6291335T>C | CA356172119 | WFS1 | c.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 |
4 | g.6291335T>G | CA356172120 | WFS1 | c.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) | |
4 | g.6291336G>A | CA438211006 | WFS1 | c.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 |
4 | g.6291336G>C | CA438211004 | WFS1 | c.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=) | |
4 | g.6291336G>T | CA438211005 | WFS1 | c.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=) | |
4 | g.6291337C>A | CA2838947 | WFS1 | c.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 |
4 | g.6291337C= | CA1435768630 | WFS1 | c.601C= (p.Leu201=) c.591C= c.352C= (p.Leu118=) c.400C= (p.Leu134=) c.198C= n.786C= c.610C= (p.Leu204=) | |
4 | g.6291337C>G | CA356172121 | WFS1 | c.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) | |
4 | g.6291337C>T | CA438211007 | WFS1 | c.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=) | |
4 | g.6291338T>A | CA356172122 | WFS1 | c.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) | |
4 | g.6291338T>C | CA356172123 | WFS1 | c.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) | |
4 | g.6291338T>G | CA356172124 | WFS1 | c.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) | |
4 | g.6291339G>A | CA438211008 | WFS1 | c.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 |
4 | g.6291339G>C | CA438211009 | WFS1 | c.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 |
4 | g.6291339G>T | CA438211010 | WFS1 | c.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=) | |
4 | g.6291340G>A | CA2838948 | WFS1 | c.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 |
4 | g.6291340G>C | CA356172125 | WFS1 | c.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 |
4 | g.6291340G= | CA1435768631 | WFS1 | c.604G= (p.Glu202=) c.594G= c.355G= (p.Glu119=) c.403G= (p.Glu135=) c.201G= n.789G= c.613G= (p.Glu205=) | |
4 | g.6291340G>T | CA356172126 | WFS1 | c.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) | |
4 | g.6291341A= | CA1435768632 | WFS1 | c.605A= (p.Glu202=) c.595A= c.356A= (p.Glu119=) c.404A= (p.Glu135=) c.202A= n.790A= c.614A= (p.Glu205=) | |
4 | g.6291341A>C | CA356172128 | WFS1 | c.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) | |
4 | g.6291341A>G | CA16618051 | WFS1 | c.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 |
4 | g.6291341A>T | CA356172127 | WFS1 | c.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) | |
4 | g.6291342G>A | CA438211011 | WFS1 | c.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 |
4 | g.6291342G>C | CA356172129 | WFS1 | c.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) | |
4 | g.6291342G>T | CA356172130 | WFS1 | c.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) | |
4 | g.6291343A>C | CA356172131 | WFS1 | c.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) | |
4 | g.6291343A>G | CA356172132 | WFS1 | c.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 |
4 | g.6291343A>T | CA356172133 | WFS1 | c.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) | |
4 | g.6291344A= | CA1435768633 | WFS1 | c.608A= (p.Asn203=) c.598A= c.359A= (p.Asn120=) c.407A= (p.Asn136=) c.205A= n.793A= c.617A= (p.Asn206=) | |
4 | g.6291344A>C | CA356172134 | WFS1 | c.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) | |
4 | g.6291344A>G | CA91794580 | WFS1 | c.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 |
4 | g.6291344A>T | CA356172135 | WFS1 | c.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) | |
4 | g.6291345T>A | CA356172136 | WFS1 | c.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 |
4 | g.6291345T>C | CA2838949 | WFS1 | c.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 |
4 | g.6291345T>G | CA356172137 | WFS1 | c.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) | |
4 | g.6291345T= | CA1435768634 | WFS1 | c.609T= (p.Asn203=) c.599T= c.360T= (p.Asn120=) c.408T= (p.Asn136=) c.206T= n.794T= c.618T= (p.Asn206=) | |
4 | g.6291346G>A | CA356172140 | WFS1 | c.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 |
4 | g.6291346G>C | CA356172139 | WFS1 | c.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) | |
4 | g.6291346G= | CA1435768635 | WFS1 | c.610G= (p.Val204=) c.600G= c.361G= (p.Val121=) c.409G= (p.Val137=) c.207G= n.795G= c.619G= (p.Val207=) | |
4 | g.6291346G>T | CA356172138 | WFS1 | c.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) | |
4 | g.6291347T>A | CA356172141 | WFS1 | c.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) | |
4 | g.6291347T>C | CA356172142 | WFS1 | c.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) | |
4 | g.6291347T>G | CA356172143 | WFS1 | c.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) | |
4 | g.6291348C>A | CA438211012 | WFS1 | c.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=) | |
4 | g.6291348C= | CA1435768636 | WFS1 | c.612C= (p.Val204=) c.602C= c.363C= (p.Val121=) c.411C= (p.Val137=) c.209C= n.797C= c.621C= (p.Val207=) | |
4 | g.6291348C>G | CA438211013 | WFS1 | c.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=) | |
4 | g.6291348C>T | CA2838950 | WFS1 | c.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 |
4 | g.6291349G>A | CA2838951 | WFS1 | c.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 |
4 | g.6291349G>C | CA356172144 | WFS1 | c.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) | |
4 | g.6291349G= | CA1435768637 | WFS1 | c.613G= (p.Gly205=) c.603G= c.364G= (p.Gly122=) c.412G= (p.Gly138=) c.210G= n.798G= c.622G= (p.Gly208=) | |
4 | g.6291349G>T | CA356172145 | WFS1 | c.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 |
4 | g.6291350G>A | CA356172146 | WFS1 | c.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 |
4 | g.6291350G>C | CA356172147 | WFS1 | c.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) | |
4 | g.6291350G= | CA1435768638 | WFS1 | c.614G= (p.Gly205=) c.604G= c.365G= (p.Gly122=) c.413G= (p.Gly138=) c.211G= n.799G= c.623G= (p.Gly208=) | |
4 | g.6291350G>T | CA356172148 | WFS1 | c.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 |
4 | g.6291351C>A | CA438211015 | WFS1 | c.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=) | |
4 | g.6291351C= | CA1435768639 | WFS1 | c.615C= (p.Gly205=) c.605C= c.366C= (p.Gly122=) c.414C= (p.Gly138=) c.212C= n.800C= c.624C= (p.Gly208=) | |
4 | g.6291351C>G | CA438211014 | WFS1 | c.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 |
4 | g.6291351C>T | CA91794581 | WFS1 | c.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 |
4 | g.6291352C>A | CA356172149 | WFS1 | c.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) | |
4 | g.6291352C>G | CA356172150 | WFS1 | c.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) | |
4 | g.6291352C>T | CA356172151 | WFS1 | c.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) | |
4 | g.6291353A>C | CA356172152 | WFS1 | c.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) | |
4 | g.6291353A>G | CA356172154 | WFS1 | c.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) | |
4 | g.6291353A>T | CA356172153 | WFS1 | c.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) | |
4 | g.6291354G>A | CA438211016 | WFS1 | c.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 |
4 | g.6291354G>C | CA356172155 | WFS1 | c.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 |
4 | g.6291354G= | CA1435768640 | WFS1 | c.618G= (p.Gln206=) c.608G= c.369G= (p.Gln123=) c.417G= (p.Gln139=) c.215G= n.803G= c.627G= (p.Gln209=) | |
4 | g.6291354G>T | CA356172156 | WFS1 | c.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) | |
4 | g.6291355G>A | CA356172157 | WFS1 | c.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) | |
4 | g.6291355G>C | CA356172158 | WFS1 | c.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) | |
4 | g.6291355G= | CA1435768641 | WFS1 | c.619G= (p.Val207=) c.608+1G= c.370G= (p.Val124=) c.418G= (p.Val140=) c.216G= n.804G= c.628G= (p.Val210=) | |
4 | g.6291355G>T | CA356172159 | WFS1 | c.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 |
4 | g.6291356T>A | CA356172160 | WFS1 | c.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) | |
4 | g.6291356T>C | CA356172161 | WFS1 | c.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) | |
4 | g.6291356T>G | CA356172162 | WFS1 | c.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) | |
4 | g.6291356_6291357del | CA645515481 | WFS1 | c.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 |
4 | g.6291357C>A | CA438211018 | WFS1 | c.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=) | |
4 | g.6291357C= | CA1435768642 | WFS1 | c.621C= (p.Val207=) c.608+3C= c.372C= (p.Val124=) c.420C= (p.Val140=) c.218C= n.806C= c.630C= (p.Val210=) | |
4 | g.6291357C>G | CA438211019 | WFS1 | c.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 |
4 | g.6291357C>T | CA438211020 | WFS1 | c.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=) | |
4 | g.6291358A>C | CA356172163 | WFS1 | c.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) | |
4 | g.6291358A>G | CA356172164 | WFS1 | c.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 |
4 | g.6291358A>T | CA356172165 | WFS1 | c.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) | |
4 | g.6291359A= | CA1435768643 | WFS1 | c.623A= (p.Asn208=) c.608+5A= c.374A= (p.Asn125=) c.422A= (p.Asn141=) c.220A= n.808A= c.632A= (p.Asn211=) | |
4 | g.6291359A>C | CA2838952 | WFS1 | c.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 |
4 | g.6291359A>G | CA356172167 | WFS1 | c.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 |
4 | g.6291359A>T | CA356172166 | WFS1 | c.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) | |
4 | g.6291360C>A | CA356172169 | WFS1 | c.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) | |
4 | g.6291360C= | CA1435768644 | WFS1 | c.624C= (p.Asn208=) c.608+6C= c.375C= (p.Asn125=) c.423C= (p.Asn141=) c.221C= n.809C= c.633C= (p.Asn211=) | |
4 | g.6291360C>G | CA356172168 | WFS1 | c.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) | |
4 | g.6291360C>T | CA2838953 | WFS1 | c.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 |
4 | g.6291361G>A | CA2838954 | WFS1 | c.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 |
4 | g.6291361G>C | CA356172170 | WFS1 | c.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) | |
4 | g.6291361G= | CA1435768645 | WFS1 | c.625G= (p.Glu209=) c.608+7G= c.376G= (p.Glu126=) c.424G= (p.Glu142=) c.222G= n.810G= c.634G= (p.Glu212=) | |
4 | g.6291361G>T | CA356172171 | WFS1 | c.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 |
4 | g.6291362A>C | CA356172172 | WFS1 | c.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) | |
4 | g.6291362A>G | CA356172173 | WFS1 | c.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) | |
4 | g.6291362A>T | CA356172174 | WFS1 | c.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) | |
4 | g.6291363G>A | CA438211021 | WFS1 | c.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 |
4 | g.6291363G>C | CA356172175 | WFS1 | c.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) | |
4 | g.6291363G>T | CA356172176 | WFS1 | c.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) |