Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
4 | g.6291364C>A | CA356172177 | WFS1 | c.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) | |
4 | g.6291364C= | CA1435768646 | WFS1 | c.628C= (p.His210=) c.608+10C= c.379C= (p.His127=) c.427C= (p.His143=) c.225C= n.813C= c.637C= (p.His213=) | |
4 | g.6291364C>G | CA356172178 | WFS1 | c.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) | |
4 | g.6291364C>T | CA356172179 | WFS1 | c.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 |
4 | g.6291365A>C | CA356172182 | WFS1 | c.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) | |
4 | g.6291365A>G | CA356172180 | WFS1 | c.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) | |
4 | g.6291365A>T | CA356172181 | WFS1 | c.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) | |
4 | g.6291365dup | CA2669825957 | WFS1 | c.629dup (p.His210GlnfsTer?) c.608+11dup c.380dup (p.His127GlnfsTer?) c.428dup (p.His143GlnfsTer?) c.226dup n.814dup c.638dup (p.His213GlnfsTer?) | gnomAD v4 |
4 | g.6291366C>A | CA356172183 | WFS1 | c.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) | |
4 | g.6291366C= | CA1435768647 | WFS1 | c.630C= (p.His210=) c.608+12C= c.381C= (p.His127=) c.429C= (p.His143=) c.227C= n.815C= c.639C= (p.His213=) | |
4 | g.6291366C>G | CA356172184 | WFS1 | c.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) | |
4 | g.6291366C>T | CA2838955 | WFS1 | c.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 |
4 | g.6291367G>A | CA320894 | WFS1 | c.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 |
4 | g.6291367G>C | CA356172185 | WFS1 | c.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 |
4 | g.6291367G= | CA1435768648 | WFS1 | c.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=) | |
4 | g.6291367G>T | CA356172186 | WFS1 | c.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) | |
4 | g.6291368del | CA2586973596 | WFS1 | c.631+1del c.608+14del c.632del (p.Gly211ValfsTer?) c.382+1del c.430+1del c.228+1del n.816+1del c.640+1del | |
4 | g.6291368G>A | CA356172187 | WFS1 | c.631+1G>A (n.631+1G>A) c.608+14G>A c.632G>A (p.Gly211Asp) c.382+1G>A (n.382+1G>A) c.430+1G>A (n.430+1G>A) c.228+1G>A n.816+1G>A c.640+1G>A (n.640+1G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291368G>C | CA356172188 | WFS1 | c.631+1G>C (n.631+1G>C) c.608+14G>C c.632G>C (p.Gly211Ala) c.382+1G>C (n.382+1G>C) c.430+1G>C (n.430+1G>C) c.228+1G>C n.816+1G>C c.640+1G>C (n.640+1G>C) | |
4 | g.6291368G= | CA1435768649 | WFS1 | c.631+1G= (n.631+1G=) c.608+14G= c.632G= (p.Gly211=) c.382+1G= (n.382+1G=) c.430+1G= (n.430+1G=) c.228+1G= n.816+1G= c.640+1G= (n.640+1G=) | |
4 | g.6291368G>T | CA356172189 | WFS1 | c.631+1G>T (n.631+1G>T) c.608+14G>T c.632G>T (p.Gly211Val) c.382+1G>T (n.382+1G>T) c.430+1G>T (n.430+1G>T) c.228+1G>T n.816+1G>T c.640+1G>T (n.640+1G>T) | |
4 | g.6291369T>A | CA356172190 | WFS1 | c.631+2T>A (n.631+2T>A) c.608+15T>A c.633T>A (p.Gly211=) c.382+2T>A (n.382+2T>A) c.430+2T>A (n.430+2T>A) c.228+2T>A n.816+2T>A c.640+2T>A (n.640+2T>A) | |
4 | g.6291369T>C | CA356172191 | WFS1 | c.631+2T>C (n.631+2T>C) c.608+15T>C c.633T>C (p.Gly211=) c.382+2T>C (n.382+2T>C) c.430+2T>C (n.430+2T>C) c.228+2T>C n.816+2T>C c.640+2T>C (n.640+2T>C) | gnomAD v4 |
4 | g.6291369T>G | CA91794582 | WFS1 | c.631+2T>G (n.631+2T>G) c.608+15T>G c.633T>G (p.Gly211=) c.382+2T>G (n.382+2T>G) c.430+2T>G (n.430+2T>G) c.228+2T>G n.816+2T>G c.640+2T>G (n.640+2T>G) | ClinVar dbSNP |
4 | g.6291369T= | CA1435768650 | WFS1 | c.631+2T= (n.631+2T=) c.608+15T= c.633T= (p.Gly211=) c.382+2T= (n.382+2T=) c.430+2T= (n.430+2T=) c.228+2T= n.816+2T= c.640+2T= (n.640+2T=) | |
4 | g.6291370G>A | CA2838956 | WFS1 | c.631+3G>A (n.631+3G>A) c.608+16G>A c.634G>A (p.Ala212Thr) c.382+3G>A (n.382+3G>A) c.430+3G>A (n.430+3G>A) c.228+3G>A n.816+3G>A c.640+3G>A (n.640+3G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6291370G= | CA1435768651 | WFS1 | c.631+3G= (n.631+3G=) c.608+16G= c.634G= (p.Ala212=) c.382+3G= (n.382+3G=) c.430+3G= (n.430+3G=) c.228+3G= n.816+3G= c.640+3G= (n.640+3G=) | |
4 | g.6291371C= | CA1435768652 | WFS1 | c.631+4C= (n.631+4C=) c.608+17C= c.635C= (p.Ala212=) c.382+4C= (n.382+4C=) c.430+4C= (n.430+4C=) c.228+4C= n.816+4C= c.640+4C= (n.640+4C=) | |
4 | g.6291371C>G | CA2838958 | WFS1 | c.631+4C>G (n.631+4C>G) c.608+17C>G c.635C>G (p.Ala212Gly) c.382+4C>G (n.382+4C>G) c.430+4C>G (n.430+4C>G) c.228+4C>G n.816+4C>G c.640+4C>G (n.640+4C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291371C>T | CA2838957 | WFS1 | c.631+4C>T (n.631+4C>T) c.608+17C>T c.635C>T (p.Ala212Val) c.382+4C>T (n.382+4C>T) c.430+4C>T (n.430+4C>T) c.228+4C>T n.816+4C>T c.640+4C>T (n.640+4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291372G>A | CA323223 | WFS1 | c.631+5G>A (n.631+5G>A) c.608+18G>A c.636G>A (p.Ala212=) c.382+5G>A (n.382+5G>A) c.430+5G>A (n.430+5G>A) c.228+5G>A n.816+5G>A c.640+5G>A (n.640+5G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6291372G= | CA1435768653 | WFS1 | c.631+5G= (n.631+5G=) c.608+18G= c.636G= (p.Ala212=) c.382+5G= (n.382+5G=) c.430+5G= (n.430+5G=) c.228+5G= n.816+5G= c.640+5G= (n.640+5G=) | |
4 | g.6291372G>T | CA2669825970 | WFS1 | c.631+5G>T (n.631+5G>T) c.608+18G>T c.636G>T (p.Ala212=) c.382+5G>T (n.382+5G>T) c.430+5G>T (n.430+5G>T) c.228+5G>T n.816+5G>T c.640+5G>T (n.640+5G>T) | gnomAD v4 |
4 | g.6291374G>A | CA91794583 | WFS1 | c.631+7G>A (n.631+7G>A) c.608+20G>A c.638G>A (p.Arg213Lys) c.382+7G>A (n.382+7G>A) c.430+7G>A (n.430+7G>A) c.228+7G>A n.816+7G>A c.640+7G>A (n.640+7G>A) | dbSNP gnomAD v4 |
4 | g.6291374G= | CA1435768654 | WFS1 | c.631+7G= (n.631+7G=) c.608+20G= c.638G= (p.Arg213=) c.382+7G= (n.382+7G=) c.430+7G= (n.430+7G=) c.228+7G= n.816+7G= c.640+7G= (n.640+7G=) | |
4 | g.6291375G>C | CA2838959 | WFS1 | c.631+8G>C (n.631+8G>C) c.608+21G>C c.639G>C (p.Arg213Ser) c.382+8G>C (n.382+8G>C) c.430+8G>C (n.430+8G>C) c.228+8G>C n.816+8G>C c.640+8G>C (n.640+8G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6291375G= | CA1435768655 | WFS1 | c.631+8G= (n.631+8G=) c.608+21G= c.639G= (p.Arg213=) c.382+8G= (n.382+8G=) c.430+8G= (n.430+8G=) c.228+8G= n.816+8G= c.640+8G= (n.640+8G=) | |
4 | g.6291375G>T | CA2669825971 | WFS1 | c.631+8G>T (n.631+8G>T) c.608+21G>T c.639G>T (p.Arg213Ser) c.382+8G>T (n.382+8G>T) c.430+8G>T (n.430+8G>T) c.228+8G>T n.816+8G>T c.640+8G>T (n.640+8G>T) | gnomAD v4 |
4 | g.6291378T>A | CA2669825975 | WFS1 | c.631+11T>A (n.631+11T>A) c.608+24T>A c.642T>A (p.Ile214=) c.382+11T>A (n.382+11T>A) c.430+11T>A (n.430+11T>A) c.228+11T>A n.816+11T>A c.640+11T>A (n.640+11T>A) | gnomAD v4 |
4 | g.6291378T>C | CA2838960 | WFS1 | c.631+11T>C (n.631+11T>C) c.608+24T>C c.642T>C (p.Ile214=) c.382+11T>C (n.382+11T>C) c.430+11T>C (n.430+11T>C) c.228+11T>C n.816+11T>C c.640+11T>C (n.640+11T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291378T= | CA1435768656 | WFS1 | c.631+11T= (n.631+11T=) c.608+24T= c.642T= (p.Ile214=) c.382+11T= (n.382+11T=) c.430+11T= (n.430+11T=) c.228+11T= n.816+11T= c.640+11T= (n.640+11T=) | |
4 | g.6291379C= | CA1435768657 | WFS1 | c.631+12C= (n.631+12C=) c.608+25C= c.643C= (p.His215=) c.382+12C= (n.382+12C=) c.430+12C= (n.430+12C=) c.228+12C= n.816+12C= c.640+12C= (n.640+12C=) | |
4 | g.6291379C>T | CA2838961 | WFS1 | c.631+12C>T (n.631+12C>T) c.608+25C>T c.643C>T (p.His215Tyr) c.382+12C>T (n.382+12C>T) c.430+12C>T (n.430+12C>T) c.228+12C>T n.816+12C>T c.640+12C>T (n.640+12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291380A>C | CA2669825980 | WFS1 | c.631+13A>C (n.631+13A>C) c.608+26A>C c.644A>C (p.His215Pro) c.382+13A>C (n.382+13A>C) c.430+13A>C (n.430+13A>C) c.228+13A>C n.816+13A>C c.640+13A>C (n.640+13A>C) | gnomAD v4 |
4 | g.6291380_6291396dup | CA797127878 | WFS1 | c.631+13_631+29dup (n.631+13_631+29dup) c.608+26_608+42dup c.644_660dup (p.Ser221ThrfsTer?) c.382+13_382+29dup (n.382+13_382+29dup) c.430+13_430+29dup (n.430+13_430+29dup) c.228+13_228+29dup n.816+13_816+29dup c.640+13_640+29dup (n.640+13_640+29dup) | dbSNP gnomAD v4 |
4 | g.6291380_6291397delinsACCCTGGGCACCAGCCTT | CA1435768658 | WFS1 | c.631+13_631+30delinsACCCTGGGCACCAGCCTT (n.631+13_631+30delinsACCCTGGGCACCAGCCTT) c.608+26_608+43delinsACCCTGGGCACCAGCCTT c.644_661delinsACCCTGGGCACCAGCCTT (p.His215=) c.382+13_382+30delinsACCCTGGGCACCAGCCTT (n.382+13_382+30delinsACCCTGGGCACCAGCCTT) c.430+13_430+30delinsACCCTGGGCACCAGCCTT (n.430+13_430+30delinsACCCTGGGCACCAGCCTT) c.228+13_228+30delinsACCCTGGGCACCAGCCTT n.816+13_816+30delinsACCCTGGGCACCAGCCTT c.640+13_640+30delinsACCCTGGGCACCAGCCTT (n.640+13_640+30delinsACCCTGGGCACCAGCCTT) | |
4 | g.6291381C= | CA1435768659 | WFS1 | c.631+14C= (n.631+14C=) c.608+27C= c.645C= (p.His215=) c.382+14C= (n.382+14C=) c.430+14C= (n.430+14C=) c.228+14C= n.816+14C= c.640+14C= (n.640+14C=) | |
4 | g.6291381C>T | CA549707976 | WFS1 | c.631+14C>T (n.631+14C>T) c.608+27C>T c.645C>T (p.His215=) c.382+14C>T (n.382+14C>T) c.430+14C>T (n.430+14C>T) c.228+14C>T n.816+14C>T c.640+14C>T (n.640+14C>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6291389_6291405dup | CA2669825981 | WFS1 | c.631+22_631+38dup (n.631+22_631+38dup) c.608+35_608+51dup c.653_669dup (p.Ala224ThrfsTer?) c.382+22_382+38dup (n.382+22_382+38dup) c.430+22_430+38dup (n.430+22_430+38dup) c.228+22_228+38dup n.816+22_816+38dup c.640+22_640+38dup (n.640+22_640+38dup) | gnomAD v4 |
4 | g.6291389_6291405del | CA797127881 | WFS1 | c.631+22_631+38del (n.631+22_631+38del) c.608+35_608+51del c.653_669del (p.His218ArgfsTer?) c.382+22_382+38del (n.382+22_382+38del) c.430+22_430+38del (n.430+22_430+38del) c.228+22_228+38del n.816+22_816+38del c.640+22_640+38del (n.640+22_640+38del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6291382C>A | CA2669825982 | WFS1 | c.631+15C>A (n.631+15C>A) c.608+28C>A c.646C>A (p.Pro216Thr) c.382+15C>A (n.382+15C>A) c.430+15C>A (n.430+15C>A) c.228+15C>A n.816+15C>A c.640+15C>A (n.640+15C>A) | gnomAD v4 |
4 | g.6291382C= | CA1435768661 | WFS1 | c.631+15C= (n.631+15C=) c.608+28C= c.646C= (p.Pro216=) c.382+15C= (n.382+15C=) c.430+15C= (n.430+15C=) c.228+15C= n.816+15C= c.640+15C= (n.640+15C=) | |
4 | g.6291382C>T | CA1435768660 | WFS1 | c.631+15C>T (n.631+15C>T) c.608+28C>T c.646C>T (p.Pro216Ser) c.382+15C>T (n.382+15C>T) c.430+15C>T (n.430+15C>T) c.228+15C>T n.816+15C>T c.640+15C>T (n.640+15C>T) | dbSNP |
4 | g.6291382_6291383insAC | CA2838962 | WFS1 | c.631+15_631+16insAC (n.631+15_631+16insAC) c.608+28_608+29insAC c.646_647insAC (p.Pro216HisfsTer?) c.382+15_382+16insAC (n.382+15_382+16insAC) c.430+15_430+16insAC (n.430+15_430+16insAC) c.228+15_228+16insAC n.816+15_816+16insAC c.640+15_640+16insAC (n.640+15_640+16insAC) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6291383C>A | CA2578035749 | WFS1 | c.631+16C>A (n.631+16C>A) c.608+29C>A c.647C>A (p.Pro216His) c.382+16C>A (n.382+16C>A) c.430+16C>A (n.430+16C>A) c.228+16C>A n.816+16C>A c.640+16C>A (n.640+16C>A) | |
4 | g.6291383C>T | CA2669825983 | WFS1 | c.631+16C>T (n.631+16C>T) c.608+29C>T c.647C>T (p.Pro216Leu) c.382+16C>T (n.382+16C>T) c.430+16C>T (n.430+16C>T) c.228+16C>T n.816+16C>T c.640+16C>T (n.640+16C>T) | gnomAD v4 |
4 | g.6291384T= | CA1435768662 | WFS1 | c.631+17T= (n.631+17T=) c.608+30T= c.648T= (p.Pro216=) c.382+17T= (n.382+17T=) c.430+17T= (n.430+17T=) c.228+17T= n.816+17T= c.640+17T= (n.640+17T=) | |
4 | g.6291384_6291385insC | CA2838963 | WFS1 | c.631+17_631+18insC (n.631+17_631+18insC) c.608+30_608+31insC c.648_649insC (p.Gly217ArgfsTer?) c.382+17_382+18insC (n.382+17_382+18insC) c.430+17_430+18insC (n.430+17_430+18insC) c.228+17_228+18insC n.816+17_816+18insC c.640+17_640+18insC (n.640+17_640+18insC) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6291385G>A | CA438211024 | WFS1 | c.631+18G>A (n.631+18G>A) c.608+31G>A c.649G>A (p.Gly217Arg) c.382+18G>A (n.382+18G>A) c.430+18G>A (n.430+18G>A) c.228+18G>A n.816+18G>A c.640+18G>A (n.640+18G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291385G>C | CA2578035750 | WFS1 | c.631+18G>C (n.631+18G>C) c.608+31G>C c.649G>C (p.Gly217Arg) c.382+18G>C (n.382+18G>C) c.430+18G>C (n.430+18G>C) c.228+18G>C n.816+18G>C c.640+18G>C (n.640+18G>C) | |
4 | g.6291385G= | CA1435768663 | WFS1 | c.631+18G= (n.631+18G=) c.608+31G= c.649G= (p.Gly217=) c.382+18G= (n.382+18G=) c.430+18G= (n.430+18G=) c.228+18G= n.816+18G= c.640+18G= (n.640+18G=) | |
4 | g.6291385_6291386insCACCACGGTGCGAGGAA | CA2838964 | WFS1 | c.631+18_631+19insCACCACGGTGCGAGGAA (n.631+18_631+19insCACCACGGTGCGAGGAA) c.608+31_608+32insCACCACGGTGCGAGGAA c.649_650insCACCACGGTGCGAGGAA (p.Gly217AlafsTer?) c.382+18_382+19insCACCACGGTGCGAGGAA (n.382+18_382+19insCACCACGGTGCGAGGAA) c.430+18_430+19insCACCACGGTGCGAGGAA (n.430+18_430+19insCACCACGGTGCGAGGAA) c.228+18_228+19insCACCACGGTGCGAGGAA n.816+18_816+19insCACCACGGTGCGAGGAA c.640+18_640+19insCACCACGGTGCGAGGAA (n.640+18_640+19insCACCACGGTGCGAGGAA) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6291386G>C | CA1435768665 | WFS1 | c.631+19G>C (n.631+19G>C) c.608+32G>C c.650G>C (p.Gly217Ala) c.382+19G>C (n.382+19G>C) c.430+19G>C (n.430+19G>C) c.228+19G>C n.816+19G>C c.640+19G>C (n.640+19G>C) | dbSNP gnomAD v4 |
4 | g.6291386G= | CA1435768664 | WFS1 | c.631+19G= (n.631+19G=) c.608+32G= c.650G= (p.Gly217=) c.382+19G= (n.382+19G=) c.430+19G= (n.430+19G=) c.228+19G= n.816+19G= c.640+19G= (n.640+19G=) | |
4 | g.6291386_6291387insCC | CA2760283877 | WFS1 | c.631+19_631+20insCC (n.631+19_631+20insCC) c.608+32_608+33insCC c.650_651insCC (p.His218ArgfsTer?) c.382+19_382+20insCC (n.382+19_382+20insCC) c.430+19_430+20insCC (n.430+19_430+20insCC) c.228+19_228+20insCC n.816+19_816+20insCC c.640+19_640+20insCC (n.640+19_640+20insCC) | |
4 | g.6291387G>A | CA549707977 | WFS1 | c.631+20G>A (n.631+20G>A) c.608+33G>A c.651G>A (p.Gly217=) c.382+20G>A (n.382+20G>A) c.430+20G>A (n.430+20G>A) c.228+20G>A n.816+20G>A c.640+20G>A (n.640+20G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291387G>C | CA2760283878 | WFS1 | c.631+20G>C (n.631+20G>C) c.608+33G>C c.651G>C (p.Gly217=) c.382+20G>C (n.382+20G>C) c.430+20G>C (n.430+20G>C) c.228+20G>C n.816+20G>C c.640+20G>C (n.640+20G>C) | |
4 | g.6291387G= | CA1435768666 | WFS1 | c.631+20G= (n.631+20G=) c.608+33G= c.651G= (p.Gly217=) c.382+20G= (n.382+20G=) c.430+20G= (n.430+20G=) c.228+20G= n.816+20G= c.640+20G= (n.640+20G=) | |
4 | g.6291387G>T | CA2669825984 | WFS1 | c.631+20G>T (n.631+20G>T) c.608+33G>T c.651G>T (p.Gly217=) c.382+20G>T (n.382+20G>T) c.430+20G>T (n.430+20G>T) c.228+20G>T n.816+20G>T c.640+20G>T (n.640+20G>T) | gnomAD v4 |
4 | g.6291387_6291388insACATTCTCCAACACCCAACCAAACACACCCAACA | CA2760283881 | WFS1 | c.631+20_631+21insACATTCTCCAACACCCAACCAAACACACCCAACA (n.631+20_631+21insACATTCTCCAACACCCAACCAAACACACCCAACA) c.608+33_608+34insACATTCTCCAACACCCAACCAAACACACCCAACA c.651_652insACATTCTCCAACACCCAACCAAACACACCCAACA (p.His218ThrfsTer?) c.382+20_382+21insACATTCTCCAACACCCAACCAAACACACCCAACA (n.382+20_382+21insACATTCTCCAACACCCAACCAAACACACCCAACA) c.430+20_430+21insACATTCTCCAACACCCAACCAAACACACCCAACA (n.430+20_430+21insACATTCTCCAACACCCAACCAAACACACCCAACA) c.228+20_228+21insACATTCTCCAACACCCAACCAAACACACCCAACA n.816+20_816+21insACATTCTCCAACACCCAACCAAACACACCCAACA c.640+20_640+21insACATTCTCCAACACCCAACCAAACACACCCAACA (n.640+20_640+21insACATTCTCCAACACCCAACCAAACACACCCAACA) | |
4 | g.6291388C>A | CA2509578412 | WFS1 | c.631+21C>A (n.631+21C>A) c.608+34C>A c.652C>A (p.His218Asn) c.382+21C>A (n.382+21C>A) c.430+21C>A (n.430+21C>A) c.228+21C>A n.816+21C>A c.640+21C>A (n.640+21C>A) | |
4 | g.6291388C= | CA1435768667 | WFS1 | c.631+21C= (n.631+21C=) c.608+34C= c.652C= (p.His218=) c.382+21C= (n.382+21C=) c.430+21C= (n.430+21C=) c.228+21C= n.816+21C= c.640+21C= (n.640+21C=) | |
4 | g.6291388C>T | CA549707978 | WFS1 | c.631+21C>T (n.631+21C>T) c.608+34C>T c.652C>T (p.His218Tyr) c.382+21C>T (n.382+21C>T) c.430+21C>T (n.430+21C>T) c.228+21C>T n.816+21C>T c.640+21C>T (n.640+21C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291389A= | CA1435768668 | WFS1 | c.631+22A= (n.631+22A=) c.608+35A= c.653A= (p.His218=) c.382+22A= (n.382+22A=) c.430+22A= (n.430+22A=) c.228+22A= n.816+22A= c.640+22A= (n.640+22A=) | |
4 | g.6291389A>G | CA2838965 | WFS1 | c.631+22A>G (n.631+22A>G) c.608+35A>G c.653A>G (p.His218Arg) c.382+22A>G (n.382+22A>G) c.430+22A>G (n.430+22A>G) c.228+22A>G n.816+22A>G c.640+22A>G (n.640+22A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291389_6291406delinsACCAGCCTTCCCTGGGCG | CA1435768669 | WFS1 | c.631+22_631+39delinsACCAGCCTTCCCTGGGCG (n.631+22_631+39delinsACCAGCCTTCCCTGGGCG) c.608+35_608+52delinsACCAGCCTTCCCTGGGCG c.653_670delinsACCAGCCTTCCCTGGGCG (p.His218=) c.382+22_382+39delinsACCAGCCTTCCCTGGGCG (n.382+22_382+39delinsACCAGCCTTCCCTGGGCG) c.430+22_430+39delinsACCAGCCTTCCCTGGGCG (n.430+22_430+39delinsACCAGCCTTCCCTGGGCG) c.228+22_228+39delinsACCAGCCTTCCCTGGGCG n.816+22_816+39delinsACCAGCCTTCCCTGGGCG c.640+22_640+39delinsACCAGCCTTCCCTGGGCG (n.640+22_640+39delinsACCAGCCTTCCCTGGGCG) | |
4 | g.6291390C>A | CA2561026765 | WFS1 | c.631+23C>A (n.631+23C>A) c.608+36C>A c.654C>A (p.His218Gln) c.382+23C>A (n.382+23C>A) c.430+23C>A (n.430+23C>A) c.228+23C>A n.816+23C>A c.640+23C>A (n.640+23C>A) | gnomAD v4 |
4 | g.6291390C= | CA1435768670 | WFS1 | c.631+23C= (n.631+23C=) c.608+36C= c.654C= (p.His218=) c.382+23C= (n.382+23C=) c.430+23C= (n.430+23C=) c.228+23C= n.816+23C= c.640+23C= (n.640+23C=) | |
4 | g.6291390C>G | CA2669825985 | WFS1 | c.631+23C>G (n.631+23C>G) c.608+36C>G c.654C>G (p.His218Gln) c.382+23C>G (n.382+23C>G) c.430+23C>G (n.430+23C>G) c.228+23C>G n.816+23C>G c.640+23C>G (n.640+23C>G) | gnomAD v4 |
4 | g.6291390C>T | CA2838967 | WFS1 | c.631+23C>T (n.631+23C>T) c.608+36C>T c.654C>T (p.His218=) c.382+23C>T (n.382+23C>T) c.430+23C>T (n.430+23C>T) c.228+23C>T n.816+23C>T c.640+23C>T (n.640+23C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6291401_6291417dup | CA2669825986 | WFS1 | c.631+34_631+50dup (n.631+34_631+50dup) c.608+47_608+63dup c.665_681dup (p.Thr228TrpfsTer?) c.382+34_382+50dup (n.382+34_382+50dup) c.430+34_430+50dup (n.430+34_430+50dup) c.228+34_228+50dup n.816+34_816+50dup c.640+34_640+50dup (n.640+34_640+50dup) | gnomAD v4 |
4 | g.6291401_6291417del | CA2838966 | WFS1 | c.631+34_631+50del (n.631+34_631+50del) c.608+47_608+63del c.665_681del (p.Leu222HisfsTer?) c.382+34_382+50del (n.382+34_382+50del) c.430+34_430+50del (n.430+34_430+50del) c.228+34_228+50del n.816+34_816+50del c.640+34_640+50del (n.640+34_640+50del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291391C>A | CA2669825987 | WFS1 | c.631+24C>A (n.631+24C>A) c.608+37C>A c.655C>A (p.Gln219Lys) c.382+24C>A (n.382+24C>A) c.430+24C>A (n.430+24C>A) c.228+24C>A n.816+24C>A c.640+24C>A (n.640+24C>A) | gnomAD v4 |
4 | g.6291391C= | CA1435768671 | WFS1 | c.631+24C= (n.631+24C=) c.608+37C= c.655C= (p.Gln219=) c.382+24C= (n.382+24C=) c.430+24C= (n.430+24C=) c.228+24C= n.816+24C= c.640+24C= (n.640+24C=) | |
4 | g.6291391C>G | CA2669825988 | WFS1 | c.631+24C>G (n.631+24C>G) c.608+37C>G c.655C>G (p.Gln219Glu) c.382+24C>G (n.382+24C>G) c.430+24C>G (n.430+24C>G) c.228+24C>G n.816+24C>G c.640+24C>G (n.640+24C>G) | gnomAD v4 |
4 | g.6291391C>T | CA2838968 | WFS1 | c.631+24C>T (n.631+24C>T) c.608+37C>T c.655C>T (p.Gln219Ter) c.382+24C>T (n.382+24C>T) c.430+24C>T (n.430+24C>T) c.228+24C>T n.816+24C>T c.640+24C>T (n.640+24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291392A= | CA1435768672 | WFS1 | c.631+25A= (n.631+25A=) c.608+38A= c.656A= (p.Gln219=) c.382+25A= (n.382+25A=) c.430+25A= (n.430+25A=) c.228+25A= n.816+25A= c.640+25A= (n.640+25A=) | |
4 | g.6291392A>G | CA91794584 | WFS1 | c.631+25A>G (n.631+25A>G) c.608+38A>G c.656A>G (p.Gln219Arg) c.382+25A>G (n.382+25A>G) c.430+25A>G (n.430+25A>G) c.228+25A>G n.816+25A>G c.640+25A>G (n.640+25A>G) | dbSNP |
4 | g.6291393G>T | CA2669825989 | WFS1 | c.631+26G>T (n.631+26G>T) c.608+39G>T c.657G>T (p.Gln219His) c.382+26G>T (n.382+26G>T) c.430+26G>T (n.430+26G>T) c.228+26G>T n.816+26G>T c.640+26G>T (n.640+26G>T) | gnomAD v4 |
4 | g.6291394C>A | CA91794585 | WFS1 | c.631+27C>A (n.631+27C>A) c.608+40C>A c.658C>A (p.Pro220Thr) c.382+27C>A (n.382+27C>A) c.430+27C>A (n.430+27C>A) c.228+27C>A n.816+27C>A c.640+27C>A (n.640+27C>A) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6291394C= | CA1435768673 | WFS1 | c.631+27C= (n.631+27C=) c.608+40C= c.658C= (p.Pro220=) c.382+27C= (n.382+27C=) c.430+27C= (n.430+27C=) c.228+27C= n.816+27C= c.640+27C= (n.640+27C=) | |
4 | g.6291394C>G | CA2760283887 | WFS1 | c.631+27C>G (n.631+27C>G) c.608+40C>G c.658C>G (p.Pro220Ala) c.382+27C>G (n.382+27C>G) c.430+27C>G (n.430+27C>G) c.228+27C>G n.816+27C>G c.640+27C>G (n.640+27C>G) | |
4 | g.6291395C>A | CA2578035751 | WFS1 | c.631+28C>A (n.631+28C>A) c.608+41C>A c.659C>A (p.Pro220His) c.382+28C>A (n.382+28C>A) c.430+28C>A (n.430+28C>A) c.228+28C>A n.816+28C>A c.640+28C>A (n.640+28C>A) | |
4 | g.6291395C>T | CA2669825990 | WFS1 | c.631+28C>T (n.631+28C>T) c.608+41C>T c.659C>T (p.Pro220Leu) c.382+28C>T (n.382+28C>T) c.430+28C>T (n.430+28C>T) c.228+28C>T n.816+28C>T c.640+28C>T (n.640+28C>T) | gnomAD v4 |
4 | g.6291397T>A | CA1435768674 | WFS1 | c.631+30T>A (n.631+30T>A) c.608+43T>A c.661T>A (p.Ser221Thr) c.382+30T>A (n.382+30T>A) c.430+30T>A (n.430+30T>A) c.228+30T>A n.816+30T>A c.640+30T>A (n.640+30T>A) | dbSNP |
4 | g.6291397T>C | CA2838969 | WFS1 | c.631+30T>C (n.631+30T>C) c.608+43T>C c.661T>C (p.Ser221Pro) c.382+30T>C (n.382+30T>C) c.430+30T>C (n.430+30T>C) c.228+30T>C n.816+30T>C c.640+30T>C (n.640+30T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6291397T= | CA1435768675 | WFS1 | c.631+30T= (n.631+30T=) c.608+43T= c.661T= (p.Ser221=) c.382+30T= (n.382+30T=) c.430+30T= (n.430+30T=) c.228+30T= n.816+30T= c.640+30T= (n.640+30T=) | |
4 | g.6291398C>A | CA2669825991 | WFS1 | c.631+31C>A (n.631+31C>A) c.608+44C>A c.662C>A (p.Ser221Tyr) c.382+31C>A (n.382+31C>A) c.430+31C>A (n.430+31C>A) c.228+31C>A n.816+31C>A c.640+31C>A (n.640+31C>A) | gnomAD v4 |
4 | g.6291398C= | CA1435768676 | WFS1 | c.631+31C= (n.631+31C=) c.608+44C= c.662C= (p.Ser221=) c.382+31C= (n.382+31C=) c.430+31C= (n.430+31C=) c.228+31C= n.816+31C= c.640+31C= (n.640+31C=) | |
4 | g.6291398C>G | CA2838970 | WFS1 | c.631+31C>G (n.631+31C>G) c.608+44C>G c.662C>G (p.Ser221Cys) c.382+31C>G (n.382+31C>G) c.430+31C>G (n.430+31C>G) c.228+31C>G n.816+31C>G c.640+31C>G (n.640+31C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6291398C>T | CA549707979 | WFS1 | c.631+31C>T (n.631+31C>T) c.608+44C>T c.662C>T (p.Ser221Phe) c.382+31C>T (n.382+31C>T) c.430+31C>T (n.430+31C>T) c.228+31C>T n.816+31C>T c.640+31C>T (n.640+31C>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6291399C= | CA1435768677 | WFS1 | c.631+32C= (n.631+32C=) c.608+45C= c.663C= (p.Ser221=) c.382+32C= (n.382+32C=) c.430+32C= (n.430+32C=) c.228+32C= n.816+32C= c.640+32C= (n.640+32C=) | |
4 | g.6291399C>T | CA1435768678 | WFS1 | c.631+32C>T (n.631+32C>T) c.608+45C>T c.663C>T (p.Ser221=) c.382+32C>T (n.382+32C>T) c.430+32C>T (n.430+32C>T) c.228+32C>T n.816+32C>T c.640+32C>T (n.640+32C>T) | dbSNP |
4 | g.6291400C>A | CA2669825992 | WFS1 | c.631+33C>A (n.631+33C>A) c.608+46C>A c.664C>A (p.Leu222Met) c.382+33C>A (n.382+33C>A) c.430+33C>A (n.430+33C>A) c.228+33C>A n.816+33C>A c.640+33C>A (n.640+33C>A) | gnomAD v4 |
4 | g.6291400C= | CA1435768679 | WFS1 | c.631+33C= (n.631+33C=) c.608+46C= c.664C= (p.Leu222=) c.382+33C= (n.382+33C=) c.430+33C= (n.430+33C=) c.228+33C= n.816+33C= c.640+33C= (n.640+33C=) | |
4 | g.6291400C>G | CA549707980 | WFS1 | c.631+33C>G (n.631+33C>G) c.608+46C>G c.664C>G (p.Leu222Val) c.382+33C>G (n.382+33C>G) c.430+33C>G (n.430+33C>G) c.228+33C>G n.816+33C>G c.640+33C>G (n.640+33C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291401T>G | CA2669825993 | WFS1 | c.631+34T>G (n.631+34T>G) c.608+47T>G c.665T>G (p.Leu222Arg) c.382+34T>G (n.382+34T>G) c.430+34T>G (n.430+34T>G) c.228+34T>G n.816+34T>G c.640+34T>G (n.640+34T>G) | gnomAD v4 |
4 | g.6291402G= | CA1435768680 | WFS1 | c.631+35G= (n.631+35G=) c.608+48G= c.666G= (p.Leu222=) c.382+35G= (n.382+35G=) c.430+35G= (n.430+35G=) c.228+35G= n.816+35G= c.640+35G= (n.640+35G=) | |
4 | g.6291402G>T | CA549707981 | WFS1 | c.631+35G>T (n.631+35G>T) c.608+48G>T c.666G>T (p.Leu222=) c.382+35G>T (n.382+35G>T) c.430+35G>T (n.430+35G>T) c.228+35G>T n.816+35G>T c.640+35G>T (n.640+35G>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6291403G>A | CA2669825994 | WFS1 | c.631+36G>A (n.631+36G>A) c.608+49G>A c.667G>A (p.Gly223Ser) c.382+36G>A (n.382+36G>A) c.430+36G>A (n.430+36G>A) c.228+36G>A n.816+36G>A c.640+36G>A (n.640+36G>A) | gnomAD v4 |
4 | g.6291403G>C | CA2669825995 | WFS1 | c.631+36G>C (n.631+36G>C) c.608+49G>C c.667G>C (p.Gly223Arg) c.382+36G>C (n.382+36G>C) c.430+36G>C (n.430+36G>C) c.228+36G>C n.816+36G>C c.640+36G>C (n.640+36G>C) | gnomAD v4 |
4 | g.6291405C>A | CA2669825996 | WFS1 | c.631+38C>A (n.631+38C>A) c.608+51C>A c.669C>A (p.Gly223=) c.382+38C>A (n.382+38C>A) c.430+38C>A (n.430+38C>A) c.228+38C>A n.816+38C>A c.640+38C>A (n.640+38C>A) | gnomAD v4 |
4 | g.6291405C= | CA1435768681 | WFS1 | c.631+38C= (n.631+38C=) c.608+51C= c.669C= (p.Gly223=) c.382+38C= (n.382+38C=) c.430+38C= (n.430+38C=) c.228+38C= n.816+38C= c.640+38C= (n.640+38C=) | |
4 | g.6291405C>G | CA549707982 | WFS1 | c.631+38C>G (n.631+38C>G) c.608+51C>G c.669C>G (p.Gly223=) c.382+38C>G (n.382+38C>G) c.430+38C>G (n.430+38C>G) c.228+38C>G n.816+38C>G c.640+38C>G (n.640+38C>G) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6291405C>T | CA2838971 | WFS1 | c.631+38C>T (n.631+38C>T) c.608+51C>T c.669C>T (p.Gly223=) c.382+38C>T (n.382+38C>T) c.430+38C>T (n.430+38C>T) c.228+38C>T n.816+38C>T c.640+38C>T (n.640+38C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6291406G>A | CA2838972 | WFS1 | c.631+39G>A (n.631+39G>A) c.608+52G>A c.670G>A (p.Ala224Thr) c.382+39G>A (n.382+39G>A) c.430+39G>A (n.430+39G>A) c.228+39G>A n.816+39G>A c.640+39G>A (n.640+39G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291406G= | CA1435768682 | WFS1 | c.631+39G= (n.631+39G=) c.608+52G= c.670G= (p.Ala224=) c.382+39G= (n.382+39G=) c.430+39G= (n.430+39G=) c.228+39G= n.816+39G= c.640+39G= (n.640+39G=) | |
4 | g.6291406G>T | CA2669825998 | WFS1 | c.631+39G>T (n.631+39G>T) c.608+52G>T c.670G>T (p.Ala224Ser) c.382+39G>T (n.382+39G>T) c.430+39G>T (n.430+39G>T) c.228+39G>T n.816+39G>T c.640+39G>T (n.640+39G>T) | gnomAD v4 |
4 | g.6291411_6291428del | CA2669825997 | WFS1 | c.631+44_631+61del (n.631+44_631+61del) c.608+57_608+74del c.675_692del (p.Ser225_Ala230del) c.382+44_382+61del (n.382+44_382+61del) c.430+44_430+61del (n.430+44_430+61del) c.228+44_228+61del n.816+44_816+61del c.640+44_640+61del (n.640+44_640+61del) | gnomAD v4 |
4 | g.6291407C>A | CA2669825999 | WFS1 | c.631+40C>A (n.631+40C>A) c.608+53C>A c.671C>A (p.Ala224Asp) c.382+40C>A (n.382+40C>A) c.430+40C>A (n.430+40C>A) c.228+40C>A n.816+40C>A c.640+40C>A (n.640+40C>A) | gnomAD v4 |
4 | g.6291408C>T | CA2669826000 | WFS1 | c.631+41C>T (n.631+41C>T) c.608+54C>T c.672C>T (p.Ala224=) c.382+41C>T (n.382+41C>T) c.430+41C>T (n.430+41C>T) c.228+41C>T n.816+41C>T c.640+41C>T (n.640+41C>T) | gnomAD v4 |
4 | g.6291409A>G | CA2669826001 | WFS1 | c.631+42A>G (n.631+42A>G) c.608+55A>G c.673A>G (p.Ser225Gly) c.382+42A>G (n.382+42A>G) c.430+42A>G (n.430+42A>G) c.228+42A>G n.816+42A>G c.640+42A>G (n.640+42A>G) | gnomAD v4 |
4 | g.6291410G>T | CA2669826002 | WFS1 | c.631+43G>T (n.631+43G>T) c.608+56G>T c.674G>T (p.Ser225Ile) c.382+43G>T (n.382+43G>T) c.430+43G>T (n.430+43G>T) c.228+43G>T n.816+43G>T c.640+43G>T (n.640+43G>T) | gnomAD v4 |
4 | g.6291411C>A | CA1058888805 | WFS1 | c.631+44C>A (n.631+44C>A) c.608+57C>A c.675C>A (p.Ser225Arg) c.382+44C>A (n.382+44C>A) c.430+44C>A (n.430+44C>A) c.228+44C>A n.816+44C>A c.640+44C>A (n.640+44C>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6291411C= | CA1435768683 | WFS1 | c.631+44C= (n.631+44C=) c.608+57C= c.675C= (p.Ser225=) c.382+44C= (n.382+44C=) c.430+44C= (n.430+44C=) c.228+44C= n.816+44C= c.640+44C= (n.640+44C=) | |
4 | g.6291411C>T | CA2669826004 | WFS1 | c.631+44C>T (n.631+44C>T) c.608+57C>T c.675C>T (p.Ser225=) c.382+44C>T (n.382+44C>T) c.430+44C>T (n.430+44C>T) c.228+44C>T n.816+44C>T c.640+44C>T (n.640+44C>T) | gnomAD v4 |
4 | g.6291419_6291438del | CA2669826003 | WFS1 | c.631+52_631+71del (n.631+52_631+71del) c.608+65_608+84del c.683_702del (p.Thr228IlefsTer?) c.382+52_382+71del (n.382+52_382+71del) c.430+52_430+71del (n.430+52_430+71del) c.228+52_228+71del n.816+52_816+71del c.640+52_640+71del (n.640+52_640+71del) | gnomAD v4 |
4 | g.6291414T>A | CA549707983 | WFS1 | c.631+47T>A (n.631+47T>A) c.608+60T>A c.678T>A (p.Leu226=) c.382+47T>A (n.382+47T>A) c.430+47T>A (n.430+47T>A) c.228+47T>A n.816+47T>A c.640+47T>A (n.640+47T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291414T= | CA1435768684 | WFS1 | c.631+47T= (n.631+47T=) c.608+60T= c.678T= (p.Leu226=) c.382+47T= (n.382+47T=) c.430+47T= (n.430+47T=) c.228+47T= n.816+47T= c.640+47T= (n.640+47T=) | |
4 | g.6291415C>A | CA2669826005 | WFS1 | c.631+48C>A (n.631+48C>A) c.608+61C>A c.679C>A (p.Pro227Thr) c.382+48C>A (n.382+48C>A) c.430+48C>A (n.430+48C>A) c.228+48C>A n.816+48C>A c.640+48C>A (n.640+48C>A) | gnomAD v4 |
4 | g.6291415C= | CA1435768685 | WFS1 | c.631+48C= (n.631+48C=) c.608+61C= c.679C= (p.Pro227=) c.382+48C= (n.382+48C=) c.430+48C= (n.430+48C=) c.228+48C= n.816+48C= c.640+48C= (n.640+48C=) | |
4 | g.6291415C>T | CA91794586 | WFS1 | c.631+48C>T (n.631+48C>T) c.608+61C>T c.679C>T (p.Pro227Ser) c.382+48C>T (n.382+48C>T) c.430+48C>T (n.430+48C>T) c.228+48C>T n.816+48C>T c.640+48C>T (n.640+48C>T) | dbSNP gnomAD v4 |
4 | g.6291416C= | CA1435768686 | WFS1 | c.631+49C= (n.631+49C=) c.608+62C= c.680C= (p.Pro227=) c.382+49C= (n.382+49C=) c.430+49C= (n.430+49C=) c.228+49C= n.816+49C= c.640+49C= (n.640+49C=) | |
4 | g.6291416C>G | CA2838973 | WFS1 | c.631+49C>G (n.631+49C>G) c.608+62C>G c.680C>G (p.Pro227Arg) c.382+49C>G (n.382+49C>G) c.430+49C>G (n.430+49C>G) c.228+49C>G n.816+49C>G c.640+49C>G (n.640+49C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291417C>A | CA2578035752 | WFS1 | c.631+50C>A (n.631+50C>A) c.608+63C>A c.681C>A (p.Pro227=) c.382+50C>A (n.382+50C>A) c.430+50C>A (n.430+50C>A) c.228+50C>A n.816+50C>A c.640+50C>A (n.640+50C>A) | gnomAD v4 |
4 | g.6291417C= | CA1435768687 | WFS1 | c.631+50C= (n.631+50C=) c.608+63C= c.681C= (p.Pro227=) c.382+50C= (n.382+50C=) c.430+50C= (n.430+50C=) c.228+50C= n.816+50C= c.640+50C= (n.640+50C=) | |
4 | g.6291417C>T | CA797127934 | WFS1 | c.631+50C>T (n.631+50C>T) c.608+63C>T c.681C>T (p.Pro227=) c.382+50C>T (n.382+50C>T) c.430+50C>T (n.430+50C>T) c.228+50C>T n.816+50C>T c.640+50C>T (n.640+50C>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6291418A= | CA1435768688 | WFS1 | c.631+51A= (n.631+51A=) c.608+64A= c.682A= (p.Thr228=) c.382+51A= (n.382+51A=) c.430+51A= (n.430+51A=) c.228+51A= n.816+51A= c.640+51A= (n.640+51A=) | |
4 | g.6291418A>G | CA2838974 | WFS1 | c.631+51A>G (n.631+51A>G) c.608+64A>G c.682A>G (p.Thr228Ala) c.382+51A>G (n.382+51A>G) c.430+51A>G (n.430+51A>G) c.228+51A>G n.816+51A>G c.640+51A>G (n.640+51A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291419C= | CA1435768689 | WFS1 | c.631+52C= (n.631+52C=) c.608+65C= c.683C= (p.Thr228=) c.382+52C= (n.382+52C=) c.430+52C= (n.430+52C=) c.228+52C= n.816+52C= c.640+52C= (n.640+52C=) | |
4 | g.6291419C>G | CA549707984 | WFS1 | c.631+52C>G (n.631+52C>G) c.608+65C>G c.683C>G (p.Thr228Arg) c.382+52C>G (n.382+52C>G) c.430+52C>G (n.430+52C>G) c.228+52C>G n.816+52C>G c.640+52C>G (n.640+52C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291419C>T | CA2838975 | WFS1 | c.631+52C>T (n.631+52C>T) c.608+65C>T c.683C>T (p.Thr228Ile) c.382+52C>T (n.382+52C>T) c.430+52C>T (n.430+52C>T) c.228+52C>T n.816+52C>T c.640+52C>T (n.640+52C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6291420A>G | CA2669826006 | WFS1 | c.631+53A>G (n.631+53A>G) c.608+66A>G c.684A>G (p.Thr228=) c.382+53A>G (n.382+53A>G) c.430+53A>G (n.430+53A>G) c.228+53A>G n.816+53A>G c.640+53A>G (n.640+53A>G) | gnomAD v4 |
4 | g.6291421G>T | CA2669826007 | WFS1 | c.631+54G>T (n.631+54G>T) c.608+67G>T c.685G>T (p.Gly229Ter) c.382+54G>T (n.382+54G>T) c.430+54G>T (n.430+54G>T) c.228+54G>T n.816+54G>T c.640+54G>T (n.640+54G>T) | gnomAD v4 |
4 | g.6291423A>G | CA2669826008 | WFS1 | c.631+56A>G (n.631+56A>G) c.608+69A>G c.687A>G (p.Gly229=) c.382+56A>G (n.382+56A>G) c.430+56A>G (n.430+56A>G) c.228+56A>G n.816+56A>G c.640+56A>G (n.640+56A>G) | dbSNP gnomAD v4 |
4 | g.6291424G>A | CA549707985 | WFS1 | c.631+57G>A (n.631+57G>A) c.608+70G>A c.688G>A (p.Ala230Thr) c.382+57G>A (n.382+57G>A) c.430+57G>A (n.430+57G>A) c.228+57G>A n.816+57G>A c.640+57G>A (n.640+57G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291424G= | CA1435768690 | WFS1 | c.631+57G= (n.631+57G=) c.608+70G= c.688G= (p.Ala230=) c.382+57G= (n.382+57G=) c.430+57G= (n.430+57G=) c.228+57G= n.816+57G= c.640+57G= (n.640+57G=) | |
4 | g.6291424G>T | CA1435768691 | WFS1 | c.631+57G>T (n.631+57G>T) c.608+70G>T c.688G>T (p.Ala230Ser) c.382+57G>T (n.382+57G>T) c.430+57G>T (n.430+57G>T) c.228+57G>T n.816+57G>T c.640+57G>T (n.640+57G>T) | dbSNP gnomAD v4 |
4 | g.6291426C>A | CA2669826009 | WFS1 | c.631+59C>A (n.631+59C>A) c.608+72C>A c.690C>A (p.Ala230=) c.382+59C>A (n.382+59C>A) c.430+59C>A (n.430+59C>A) c.228+59C>A n.816+59C>A c.640+59C>A (n.640+59C>A) | gnomAD v4 |
4 | g.6291426C>T | CA2669826010 | WFS1 | c.631+59C>T (n.631+59C>T) c.608+72C>T c.690C>T (p.Ala230=) c.382+59C>T (n.382+59C>T) c.430+59C>T (n.430+59C>T) c.228+59C>T n.816+59C>T c.640+59C>T (n.640+59C>T) | gnomAD v4 |
4 | g.6291427A>G | CA2669826011 | WFS1 | c.631+60A>G (n.631+60A>G) c.608+73A>G c.691A>G (p.Arg231Gly) c.382+60A>G (n.382+60A>G) c.430+60A>G (n.430+60A>G) c.228+60A>G n.816+60A>G c.640+60A>G (n.640+60A>G) | gnomAD v4 |
4 | g.6291427_6291447delinsAGGACCTTCCCATAGGGGCTG | CA1435768692 | WFS1 | c.631+60_631+80delinsAGGACCTTCCCATAGGGGCTG (n.631+60_631+80delinsAGGACCTTCCCATAGGGGCTG) c.608+73_608+93delinsAGGACCTTCCCATAGGGGCTG c.691_*6delinsAGGACCTTCCCATAGGGGCTG (n.[c.691_*6delinsAGGACCTTCCCATAGGGGCTG;Arg231=]) c.382+60_382+80delinsAGGACCTTCCCATAGGGGCTG (n.382+60_382+80delinsAGGACCTTCCCATAGGGGCTG) c.430+60_430+80delinsAGGACCTTCCCATAGGGGCTG (n.430+60_430+80delinsAGGACCTTCCCATAGGGGCTG) c.228+60_228+80delinsAGGACCTTCCCATAGGGGCTG n.816+60_816+80delinsAGGACCTTCCCATAGGGGCTG c.640+60_640+80delinsAGGACCTTCCCATAGGGGCTG (n.640+60_640+80delinsAGGACCTTCCCATAGGGGCTG) | |
4 | g.6291428G>T | CA2669826012 | WFS1 | c.631+61G>T (n.631+61G>T) c.608+74G>T c.692G>T (p.Arg231Met) c.382+61G>T (n.382+61G>T) c.430+61G>T (n.430+61G>T) c.228+61G>T n.816+61G>T c.640+61G>T (n.640+61G>T) | gnomAD v4 |
4 | g.6291438_6291457del | CA549707986 | WFS1 | c.631+71_631+90del (n.631+71_631+90del) c.608+84_608+103del c.702_*16del (n.[c.702_*16del;Ter235GlnextTer?]) c.382+71_382+90del (n.382+71_382+90del) c.430+71_430+90del (n.430+71_430+90del) c.228+71_228+90del n.816+71_816+90del c.640+71_640+90del (n.640+71_640+90del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291429G>A | CA2578035753 | WFS1 | c.631+62G>A (n.631+62G>A) c.608+75G>A c.693G>A (p.Arg231=) c.382+62G>A (n.382+62G>A) c.430+62G>A (n.430+62G>A) c.228+62G>A n.816+62G>A c.640+62G>A (n.640+62G>A) | |
4 | g.6291429G>T | CA2669826013 | WFS1 | c.631+62G>T (n.631+62G>T) c.608+75G>T c.693G>T (p.Arg231Ser) c.382+62G>T (n.382+62G>T) c.430+62G>T (n.430+62G>T) c.228+62G>T n.816+62G>T c.640+62G>T (n.640+62G>T) | gnomAD v4 |
4 | g.6291431C>A | CA2669826014 | WFS1 | c.631+64C>A (n.631+64C>A) c.608+77C>A c.695C>A (p.Thr232Asn) c.382+64C>A (n.382+64C>A) c.430+64C>A (n.430+64C>A) c.228+64C>A n.816+64C>A c.640+64C>A (n.640+64C>A) | gnomAD v4 |
4 | g.6291431C>G | CA2669826016 | WFS1 | c.631+64C>G (n.631+64C>G) c.608+77C>G c.695C>G (p.Thr232Ser) c.382+64C>G (n.382+64C>G) c.430+64C>G (n.430+64C>G) c.228+64C>G n.816+64C>G c.640+64C>G (n.640+64C>G) | gnomAD v4 |
4 | g.6291431C>T | CA2669826015 | WFS1 | c.631+64C>T (n.631+64C>T) c.608+77C>T c.695C>T (p.Thr232Ile) c.382+64C>T (n.382+64C>T) c.430+64C>T (n.430+64C>T) c.228+64C>T n.816+64C>T c.640+64C>T (n.640+64C>T) | gnomAD v4 |