Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.6291331G>ACA356172109WFS1c.595G>A (p.Glu199Lys)
c.585G>A
c.346G>A (p.Glu116Lys)
c.394G>A (p.Glu132Lys)
c.192G>A
n.780G>A
c.604G>A (p.Glu202Lys)
4g.6291331G>CCA2838946WFS1c.595G>C (p.Glu199Gln)
c.585G>C
c.346G>C (p.Glu116Gln)
c.394G>C (p.Glu132Gln)
c.192G>C
n.780G>C
c.604G>C (p.Glu202Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6291331G=CA1435768629WFS1c.595G= (p.Glu199=)
c.585G=
c.346G= (p.Glu116=)
c.394G= (p.Glu132=)
c.192G=
n.780G=
c.604G= (p.Glu202=)
4g.6291331G>TCA356172110WFS1c.595G>T (p.Glu199Ter)
c.585G>T
c.346G>T (p.Glu116Ter)
c.394G>T (p.Glu132Ter)
c.192G>T
n.780G>T
c.604G>T (p.Glu202Ter)
4g.6291332A>CCA356172111WFS1c.596A>C (p.Glu199Ala)
c.586A>C
c.347A>C (p.Glu116Ala)
c.395A>C (p.Glu132Ala)
c.193A>C
n.781A>C
c.605A>C (p.Glu202Ala)
4g.6291332A>GCA356172113WFS1c.596A>G (p.Glu199Gly)
c.586A>G
c.347A>G (p.Glu116Gly)
c.395A>G (p.Glu132Gly)
c.193A>G
n.781A>G
c.605A>G (p.Glu202Gly)
ClinVar
4g.6291332A>TCA356172112WFS1c.596A>T (p.Glu199Val)
c.586A>T
c.347A>T (p.Glu116Val)
c.395A>T (p.Glu132Val)
c.193A>T
n.781A>T
c.605A>T (p.Glu202Val)
4g.6291333G>ACA438211002WFS1c.597G>A (p.Glu199=)
c.587G>A
c.348G>A (p.Glu116=)
c.396G>A (p.Glu132=)
c.194G>A
n.782G>A
c.606G>A (p.Glu202=)
4g.6291333G>CCA356172114WFS1c.597G>C (p.Glu199Asp)
c.587G>C
c.348G>C (p.Glu116Asp)
c.396G>C (p.Glu132Asp)
c.194G>C
n.782G>C
c.606G>C (p.Glu202Asp)
4g.6291333G>TCA356172115WFS1c.597G>T (p.Glu199Asp)
c.587G>T
c.348G>T (p.Glu116Asp)
c.396G>T (p.Glu132Asp)
c.194G>T
n.782G>T
c.606G>T (p.Glu202Asp)
4g.6291334C>ACA356172116WFS1c.598C>A (p.Leu200Met)
c.588C>A
c.349C>A (p.Leu117Met)
c.397C>A (p.Leu133Met)
c.195C>A
n.783C>A
c.607C>A (p.Leu203Met)
4g.6291334C>GCA356172117WFS1c.598C>G (p.Leu200Val)
c.588C>G
c.349C>G (p.Leu117Val)
c.397C>G (p.Leu133Val)
c.195C>G
n.783C>G
c.607C>G (p.Leu203Val)
4g.6291334C>TCA438211003WFS1c.598C>T (p.Leu200=)
c.588C>T
c.349C>T (p.Leu117=)
c.397C>T (p.Leu133=)
c.195C>T
n.783C>T
c.607C>T (p.Leu203=)
4g.6291335delCA2578035748WFS1c.599del (p.Leu200ArgfsTer?)
c.589del
c.350del (p.Leu117ArgfsTer?)
c.398del (p.Leu133ArgfsTer?)
c.196del
n.784del
c.608del (p.Leu203ArgfsTer?)
ClinVar gnomAD v4
4g.6291335T>ACA356172118WFS1c.599T>A (p.Leu200Gln)
c.589T>A
c.350T>A (p.Leu117Gln)
c.398T>A (p.Leu133Gln)
c.196T>A
n.784T>A
c.608T>A (p.Leu203Gln)
4g.6291335T>CCA356172119WFS1c.599T>C (p.Leu200Pro)
c.589T>C
c.350T>C (p.Leu117Pro)
c.398T>C (p.Leu133Pro)
c.196T>C
n.784T>C
c.608T>C (p.Leu203Pro)
ClinVar gnomAD v4
4g.6291335T>GCA356172120WFS1c.599T>G (p.Leu200Arg)
c.589T>G
c.350T>G (p.Leu117Arg)
c.398T>G (p.Leu133Arg)
c.196T>G
n.784T>G
c.608T>G (p.Leu203Arg)
4g.6291336G>ACA438211006WFS1c.600G>A (p.Leu200=)
c.590G>A
c.351G>A (p.Leu117=)
c.399G>A (p.Leu133=)
c.197G>A
n.785G>A
c.609G>A (p.Leu203=)
gnomAD v4
4g.6291336G>CCA438211004WFS1c.600G>C (p.Leu200=)
c.590G>C
c.351G>C (p.Leu117=)
c.399G>C (p.Leu133=)
c.197G>C
n.785G>C
c.609G>C (p.Leu203=)
4g.6291336G>TCA438211005WFS1c.600G>T (p.Leu200=)
c.590G>T
c.351G>T (p.Leu117=)
c.399G>T (p.Leu133=)
c.197G>T
n.785G>T
c.609G>T (p.Leu203=)
4g.6291337C>ACA2838947WFS1c.601C>A (p.Leu201Met)
c.591C>A
c.352C>A (p.Leu118Met)
c.400C>A (p.Leu134Met)
c.198C>A
n.786C>A
c.610C>A (p.Leu204Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6291337C=CA1435768630WFS1c.601C= (p.Leu201=)
c.591C=
c.352C= (p.Leu118=)
c.400C= (p.Leu134=)
c.198C=
n.786C=
c.610C= (p.Leu204=)
4g.6291337C>GCA356172121WFS1c.601C>G (p.Leu201Val)
c.591C>G
c.352C>G (p.Leu118Val)
c.400C>G (p.Leu134Val)
c.198C>G
n.786C>G
c.610C>G (p.Leu204Val)
4g.6291337C>TCA438211007WFS1c.601C>T (p.Leu201=)
c.591C>T
c.352C>T (p.Leu118=)
c.400C>T (p.Leu134=)
c.198C>T
n.786C>T
c.610C>T (p.Leu204=)
4g.6291338T>ACA356172122WFS1c.602T>A (p.Leu201Gln)
c.592T>A
c.353T>A (p.Leu118Gln)
c.401T>A (p.Leu134Gln)
c.199T>A
n.787T>A
c.611T>A (p.Leu204Gln)
4g.6291338T>CCA356172123WFS1c.602T>C (p.Leu201Pro)
c.592T>C
c.353T>C (p.Leu118Pro)
c.401T>C (p.Leu134Pro)
c.199T>C
n.787T>C
c.611T>C (p.Leu204Pro)
4g.6291338T>GCA356172124WFS1c.602T>G (p.Leu201Arg)
c.592T>G
c.353T>G (p.Leu118Arg)
c.401T>G (p.Leu134Arg)
c.199T>G
n.787T>G
c.611T>G (p.Leu204Arg)
4g.6291339G>ACA438211008WFS1c.603G>A (p.Leu201=)
c.593G>A
c.354G>A (p.Leu118=)
c.402G>A (p.Leu134=)
c.200G>A
n.788G>A
c.612G>A (p.Leu204=)
COSMIC
4g.6291339G>CCA438211009WFS1c.603G>C (p.Leu201=)
c.593G>C
c.354G>C (p.Leu118=)
c.402G>C (p.Leu134=)
c.200G>C
n.788G>C
c.612G>C (p.Leu204=)
gnomAD v4
4g.6291339G>TCA438211010WFS1c.603G>T (p.Leu201=)
c.593G>T
c.354G>T (p.Leu118=)
c.402G>T (p.Leu134=)
c.200G>T
n.788G>T
c.612G>T (p.Leu204=)
4g.6291340G>ACA2838948WFS1c.604G>A (p.Glu202Lys)
c.594G>A
c.355G>A (p.Glu119Lys)
c.403G>A (p.Glu135Lys)
c.201G>A
n.789G>A
c.613G>A (p.Glu205Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6291340G>CCA356172125WFS1c.604G>C (p.Glu202Gln)
c.594G>C
c.355G>C (p.Glu119Gln)
c.403G>C (p.Glu135Gln)
c.201G>C
n.789G>C
c.613G>C (p.Glu205Gln)
ClinVar
4g.6291340G=CA1435768631WFS1c.604G= (p.Glu202=)
c.594G=
c.355G= (p.Glu119=)
c.403G= (p.Glu135=)
c.201G=
n.789G=
c.613G= (p.Glu205=)
4g.6291340G>TCA356172126WFS1c.604G>T (p.Glu202Ter)
c.594G>T
c.355G>T (p.Glu119Ter)
c.403G>T (p.Glu135Ter)
c.201G>T
n.789G>T
c.613G>T (p.Glu205Ter)
4g.6291341A=CA1435768632WFS1c.605A= (p.Glu202=)
c.595A=
c.356A= (p.Glu119=)
c.404A= (p.Glu135=)
c.202A=
n.790A=
c.614A= (p.Glu205=)
4g.6291341A>CCA356172128WFS1c.605A>C (p.Glu202Ala)
c.595A>C
c.356A>C (p.Glu119Ala)
c.404A>C (p.Glu135Ala)
c.202A>C
n.790A>C
c.614A>C (p.Glu205Ala)
4g.6291341A>GCA16618051WFS1c.605A>G (p.Glu202Gly)
c.595A>G
c.356A>G (p.Glu119Gly)
c.404A>G (p.Glu135Gly)
c.202A>G
n.790A>G
c.614A>G (p.Glu205Gly)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6291341A>TCA356172127WFS1c.605A>T (p.Glu202Val)
c.595A>T
c.356A>T (p.Glu119Val)
c.404A>T (p.Glu135Val)
c.202A>T
n.790A>T
c.614A>T (p.Glu205Val)
4g.6291342G>ACA438211011WFS1c.606G>A (p.Glu202=)
c.596G>A
c.357G>A (p.Glu119=)
c.405G>A (p.Glu135=)
c.203G>A
n.791G>A
c.615G>A (p.Glu205=)
dbSNP
4g.6291342G>CCA356172129WFS1c.606G>C (p.Glu202Asp)
c.596G>C
c.357G>C (p.Glu119Asp)
c.405G>C (p.Glu135Asp)
c.203G>C
n.791G>C
c.615G>C (p.Glu205Asp)
4g.6291342G>TCA356172130WFS1c.606G>T (p.Glu202Asp)
c.596G>T
c.357G>T (p.Glu119Asp)
c.405G>T (p.Glu135Asp)
c.203G>T
n.791G>T
c.615G>T (p.Glu205Asp)
4g.6291343A>CCA356172131WFS1c.607A>C (p.Asn203His)
c.597A>C
c.358A>C (p.Asn120His)
c.406A>C (p.Asn136His)
c.204A>C
n.792A>C
c.616A>C (p.Asn206His)
4g.6291343A>GCA356172132WFS1c.607A>G (p.Asn203Asp)
c.597A>G
c.358A>G (p.Asn120Asp)
c.406A>G (p.Asn136Asp)
c.204A>G
n.792A>G
c.616A>G (p.Asn206Asp)
gnomAD v4
4g.6291343A>TCA356172133WFS1c.607A>T (p.Asn203Tyr)
c.597A>T
c.358A>T (p.Asn120Tyr)
c.406A>T (p.Asn136Tyr)
c.204A>T
n.792A>T
c.616A>T (p.Asn206Tyr)
4g.6291344A=CA1435768633WFS1c.608A= (p.Asn203=)
c.598A=
c.359A= (p.Asn120=)
c.407A= (p.Asn136=)
c.205A=
n.793A=
c.617A= (p.Asn206=)
4g.6291344A>CCA356172134WFS1c.608A>C (p.Asn203Thr)
c.598A>C
c.359A>C (p.Asn120Thr)
c.407A>C (p.Asn136Thr)
c.205A>C
n.793A>C
c.617A>C (p.Asn206Thr)
4g.6291344A>GCA91794580WFS1c.608A>G (p.Asn203Ser)
c.598A>G
c.359A>G (p.Asn120Ser)
c.407A>G (p.Asn136Ser)
c.205A>G
n.793A>G
c.617A>G (p.Asn206Ser)
dbSNP
4g.6291344A>TCA356172135WFS1c.608A>T (p.Asn203Ile)
c.598A>T
c.359A>T (p.Asn120Ile)
c.407A>T (p.Asn136Ile)
c.205A>T
n.793A>T
c.617A>T (p.Asn206Ile)
4g.6291345T>ACA356172136WFS1c.609T>A (p.Asn203Lys)
c.599T>A
c.360T>A (p.Asn120Lys)
c.408T>A (p.Asn136Lys)
c.206T>A
n.794T>A
c.618T>A (p.Asn206Lys)
gnomAD v4
4g.6291345T>CCA2838949WFS1c.609T>C (p.Asn203=)
c.599T>C
c.360T>C (p.Asn120=)
c.408T>C (p.Asn136=)
c.206T>C
n.794T>C
c.618T>C (p.Asn206=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6291345T>GCA356172137WFS1c.609T>G (p.Asn203Lys)
c.599T>G
c.360T>G (p.Asn120Lys)
c.408T>G (p.Asn136Lys)
c.206T>G
n.794T>G
c.618T>G (p.Asn206Lys)
4g.6291345T=CA1435768634WFS1c.609T= (p.Asn203=)
c.599T=
c.360T= (p.Asn120=)
c.408T= (p.Asn136=)
c.206T=
n.794T=
c.618T= (p.Asn206=)
4g.6291346G>ACA356172140WFS1c.610G>A (p.Val204Ile)
c.600G>A
c.361G>A (p.Val121Ile)
c.409G>A (p.Val137Ile)
c.207G>A
n.795G>A
c.619G>A (p.Val207Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6291346G>CCA356172139WFS1c.610G>C (p.Val204Leu)
c.600G>C
c.361G>C (p.Val121Leu)
c.409G>C (p.Val137Leu)
c.207G>C
n.795G>C
c.619G>C (p.Val207Leu)
4g.6291346G=CA1435768635WFS1c.610G= (p.Val204=)
c.600G=
c.361G= (p.Val121=)
c.409G= (p.Val137=)
c.207G=
n.795G=
c.619G= (p.Val207=)
4g.6291346G>TCA356172138WFS1c.610G>T (p.Val204Phe)
c.600G>T
c.361G>T (p.Val121Phe)
c.409G>T (p.Val137Phe)
c.207G>T
n.795G>T
c.619G>T (p.Val207Phe)
4g.6291347T>ACA356172141WFS1c.611T>A (p.Val204Asp)
c.601T>A
c.362T>A (p.Val121Asp)
c.410T>A (p.Val137Asp)
c.208T>A
n.796T>A
c.620T>A (p.Val207Asp)
4g.6291347T>CCA356172142WFS1c.611T>C (p.Val204Ala)
c.601T>C
c.362T>C (p.Val121Ala)
c.410T>C (p.Val137Ala)
c.208T>C
n.796T>C
c.620T>C (p.Val207Ala)
4g.6291347T>GCA356172143WFS1c.611T>G (p.Val204Gly)
c.601T>G
c.362T>G (p.Val121Gly)
c.410T>G (p.Val137Gly)
c.208T>G
n.796T>G
c.620T>G (p.Val207Gly)
4g.6291348C>ACA438211012WFS1c.612C>A (p.Val204=)
c.602C>A
c.363C>A (p.Val121=)
c.411C>A (p.Val137=)
c.209C>A
n.797C>A
c.621C>A (p.Val207=)
4g.6291348C=CA1435768636WFS1c.612C= (p.Val204=)
c.602C=
c.363C= (p.Val121=)
c.411C= (p.Val137=)
c.209C=
n.797C=
c.621C= (p.Val207=)
4g.6291348C>GCA438211013WFS1c.612C>G (p.Val204=)
c.602C>G
c.363C>G (p.Val121=)
c.411C>G (p.Val137=)
c.209C>G
n.797C>G
c.621C>G (p.Val207=)
4g.6291348C>TCA2838950WFS1c.612C>T (p.Val204=)
c.602C>T
c.363C>T (p.Val121=)
c.411C>T (p.Val137=)
c.209C>T
n.797C>T
c.621C>T (p.Val207=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6291349G>ACA2838951WFS1c.613G>A (p.Gly205Ser)
c.603G>A
c.364G>A (p.Gly122Ser)
c.412G>A (p.Gly138Ser)
c.210G>A
n.798G>A
c.622G>A (p.Gly208Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6291349G>CCA356172144WFS1c.613G>C (p.Gly205Arg)
c.603G>C
c.364G>C (p.Gly122Arg)
c.412G>C (p.Gly138Arg)
c.210G>C
n.798G>C
c.622G>C (p.Gly208Arg)
4g.6291349G=CA1435768637WFS1c.613G= (p.Gly205=)
c.603G=
c.364G= (p.Gly122=)
c.412G= (p.Gly138=)
c.210G=
n.798G=
c.622G= (p.Gly208=)
4g.6291349G>TCA356172145WFS1c.613G>T (p.Gly205Cys)
c.603G>T
c.364G>T (p.Gly122Cys)
c.412G>T (p.Gly138Cys)
c.210G>T
n.798G>T
c.622G>T (p.Gly208Cys)
gnomAD v4
4g.6291350G>ACA356172146WFS1c.614G>A (p.Gly205Asp)
c.604G>A
c.365G>A (p.Gly122Asp)
c.413G>A (p.Gly138Asp)
c.211G>A
n.799G>A
c.623G>A (p.Gly208Asp)
dbSNP gnomAD v4
4g.6291350G>CCA356172147WFS1c.614G>C (p.Gly205Ala)
c.604G>C
c.365G>C (p.Gly122Ala)
c.413G>C (p.Gly138Ala)
c.211G>C
n.799G>C
c.623G>C (p.Gly208Ala)
4g.6291350G=CA1435768638WFS1c.614G= (p.Gly205=)
c.604G=
c.365G= (p.Gly122=)
c.413G= (p.Gly138=)
c.211G=
n.799G=
c.623G= (p.Gly208=)
4g.6291350G>TCA356172148WFS1c.614G>T (p.Gly205Val)
c.604G>T
c.365G>T (p.Gly122Val)
c.413G>T (p.Gly138Val)
c.211G>T
n.799G>T
c.623G>T (p.Gly208Val)
dbSNP gnomAD v4
4g.6291351C>ACA438211015WFS1c.615C>A (p.Gly205=)
c.605C>A
c.366C>A (p.Gly122=)
c.414C>A (p.Gly138=)
c.212C>A
n.800C>A
c.624C>A (p.Gly208=)
4g.6291351C=CA1435768639WFS1c.615C= (p.Gly205=)
c.605C=
c.366C= (p.Gly122=)
c.414C= (p.Gly138=)
c.212C=
n.800C=
c.624C= (p.Gly208=)
4g.6291351C>GCA438211014WFS1c.615C>G (p.Gly205=)
c.605C>G
c.366C>G (p.Gly122=)
c.414C>G (p.Gly138=)
c.212C>G
n.800C>G
c.624C>G (p.Gly208=)
ClinVar dbSNP
4g.6291351C>TCA91794581WFS1c.615C>T (p.Gly205=)
c.605C>T
c.366C>T (p.Gly122=)
c.414C>T (p.Gly138=)
c.212C>T
n.800C>T
c.624C>T (p.Gly208=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.6291352C>ACA356172149WFS1c.616C>A (p.Gln206Lys)
c.606C>A
c.367C>A (p.Gln123Lys)
c.415C>A (p.Gln139Lys)
c.213C>A
n.801C>A
c.625C>A (p.Gln209Lys)
4g.6291352C>GCA356172150WFS1c.616C>G (p.Gln206Glu)
c.606C>G
c.367C>G (p.Gln123Glu)
c.415C>G (p.Gln139Glu)
c.213C>G
n.801C>G
c.625C>G (p.Gln209Glu)
4g.6291352C>TCA356172151WFS1c.616C>T (p.Gln206Ter)
c.606C>T
c.367C>T (p.Gln123Ter)
c.415C>T (p.Gln139Ter)
c.213C>T
n.801C>T
c.625C>T (p.Gln209Ter)
4g.6291353A>CCA356172152WFS1c.617A>C (p.Gln206Pro)
c.607A>C
c.368A>C (p.Gln123Pro)
c.416A>C (p.Gln139Pro)
c.214A>C
n.802A>C
c.626A>C (p.Gln209Pro)
4g.6291353A>GCA356172154WFS1c.617A>G (p.Gln206Arg)
c.607A>G
c.368A>G (p.Gln123Arg)
c.416A>G (p.Gln139Arg)
c.214A>G
n.802A>G
c.626A>G (p.Gln209Arg)
4g.6291353A>TCA356172153WFS1c.617A>T (p.Gln206Leu)
c.607A>T
c.368A>T (p.Gln123Leu)
c.416A>T (p.Gln139Leu)
c.214A>T
n.802A>T
c.626A>T (p.Gln209Leu)
4g.6291354G>ACA438211016WFS1c.618G>A (p.Gln206=)
c.608G>A
c.369G>A (p.Gln123=)
c.417G>A (p.Gln139=)
c.215G>A
n.803G>A
c.627G>A (p.Gln209=)
dbSNP
4g.6291354G>CCA356172155WFS1c.618G>C (p.Gln206His)
c.608G>C
c.369G>C (p.Gln123His)
c.417G>C (p.Gln139His)
c.215G>C
n.803G>C
c.627G>C (p.Gln209His)
dbSNP gnomAD v4
4g.6291354G=CA1435768640WFS1c.618G= (p.Gln206=)
c.608G=
c.369G= (p.Gln123=)
c.417G= (p.Gln139=)
c.215G=
n.803G=
c.627G= (p.Gln209=)
4g.6291354G>TCA356172156WFS1c.618G>T (p.Gln206His)
c.608G>T
c.369G>T (p.Gln123His)
c.417G>T (p.Gln139His)
c.215G>T
n.803G>T
c.627G>T (p.Gln209His)
4g.6291355G>ACA356172157WFS1c.619G>A (p.Val207Ile)
c.608+1G>A
c.370G>A (p.Val124Ile)
c.418G>A (p.Val140Ile)
c.216G>A
n.804G>A
c.628G>A (p.Val210Ile)
4g.6291355G>CCA356172158WFS1c.619G>C (p.Val207Leu)
c.608+1G>C
c.370G>C (p.Val124Leu)
c.418G>C (p.Val140Leu)
c.216G>C
n.804G>C
c.628G>C (p.Val210Leu)
4g.6291355G=CA1435768641WFS1c.619G= (p.Val207=)
c.608+1G=
c.370G= (p.Val124=)
c.418G= (p.Val140=)
c.216G=
n.804G=
c.628G= (p.Val210=)
4g.6291355G>TCA356172159WFS1c.619G>T (p.Val207Phe)
c.608+1G>T
c.370G>T (p.Val124Phe)
c.418G>T (p.Val140Phe)
c.216G>T
n.804G>T
c.628G>T (p.Val210Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6291356T>ACA356172160WFS1c.620T>A (p.Val207Asp)
c.608+2T>A
c.371T>A (p.Val124Asp)
c.419T>A (p.Val140Asp)
c.217T>A
n.805T>A
c.629T>A (p.Val210Asp)
4g.6291356T>CCA356172161WFS1c.620T>C (p.Val207Ala)
c.608+2T>C
c.371T>C (p.Val124Ala)
c.419T>C (p.Val140Ala)
c.217T>C
n.805T>C
c.629T>C (p.Val210Ala)
4g.6291356T>GCA356172162WFS1c.620T>G (p.Val207Gly)
c.608+2T>G
c.371T>G (p.Val124Gly)
c.419T>G (p.Val140Gly)
c.217T>G
n.805T>G
c.629T>G (p.Val210Gly)
4g.6291356_6291357delCA645515481WFS1c.620_621del (p.Val207GlufsTer?)
c.608+2_608+3del
c.371_372del (p.Val124GlufsTer?)
c.419_420del (p.Val140GlufsTer?)
c.217_218del
n.805_806del
c.629_630del (p.Val210GlufsTer?)
COSMIC
4g.6291357C>ACA438211018WFS1c.621C>A (p.Val207=)
c.608+3C>A
c.372C>A (p.Val124=)
c.420C>A (p.Val140=)
c.218C>A
n.806C>A
c.630C>A (p.Val210=)
4g.6291357C=CA1435768642WFS1c.621C= (p.Val207=)
c.608+3C=
c.372C= (p.Val124=)
c.420C= (p.Val140=)
c.218C=
n.806C=
c.630C= (p.Val210=)
4g.6291357C>GCA438211019WFS1c.621C>G (p.Val207=)
c.608+3C>G
c.372C>G (p.Val124=)
c.420C>G (p.Val140=)
c.218C>G
n.806C>G
c.630C>G (p.Val210=)
dbSNP
4g.6291357C>TCA438211020WFS1c.621C>T (p.Val207=)
c.608+3C>T
c.372C>T (p.Val124=)
c.420C>T (p.Val140=)
c.218C>T
n.806C>T
c.630C>T (p.Val210=)
4g.6291358A>CCA356172163WFS1c.622A>C (p.Asn208His)
c.608+4A>C
c.373A>C (p.Asn125His)
c.421A>C (p.Asn141His)
c.219A>C
n.807A>C
c.631A>C (p.Asn211His)
4g.6291358A>GCA356172164WFS1c.622A>G (p.Asn208Asp)
c.608+4A>G
c.373A>G (p.Asn125Asp)
c.421A>G (p.Asn141Asp)
c.219A>G
n.807A>G
c.631A>G (p.Asn211Asp)
COSMIC
4g.6291358A>TCA356172165WFS1c.622A>T (p.Asn208Tyr)
c.608+4A>T
c.373A>T (p.Asn125Tyr)
c.421A>T (p.Asn141Tyr)
c.219A>T
n.807A>T
c.631A>T (p.Asn211Tyr)
4g.6291359A=CA1435768643WFS1c.623A= (p.Asn208=)
c.608+5A=
c.374A= (p.Asn125=)
c.422A= (p.Asn141=)
c.220A=
n.808A=
c.632A= (p.Asn211=)
4g.6291359A>CCA2838952WFS1c.623A>C (p.Asn208Thr)
c.608+5A>C
c.374A>C (p.Asn125Thr)
c.422A>C (p.Asn141Thr)
c.220A>C
n.808A>C
c.632A>C (p.Asn211Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6291359A>GCA356172167WFS1c.623A>G (p.Asn208Ser)
c.608+5A>G
c.374A>G (p.Asn125Ser)
c.422A>G (p.Asn141Ser)
c.220A>G
n.808A>G
c.632A>G (p.Asn211Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6291359A>TCA356172166WFS1c.623A>T (p.Asn208Ile)
c.608+5A>T
c.374A>T (p.Asn125Ile)
c.422A>T (p.Asn141Ile)
c.220A>T
n.808A>T
c.632A>T (p.Asn211Ile)
4g.6291360C>ACA356172169WFS1c.624C>A (p.Asn208Lys)
c.608+6C>A
c.375C>A (p.Asn125Lys)
c.423C>A (p.Asn141Lys)
c.221C>A
n.809C>A
c.633C>A (p.Asn211Lys)
4g.6291360C=CA1435768644WFS1c.624C= (p.Asn208=)
c.608+6C=
c.375C= (p.Asn125=)
c.423C= (p.Asn141=)
c.221C=
n.809C=
c.633C= (p.Asn211=)
4g.6291360C>GCA356172168WFS1c.624C>G (p.Asn208Lys)
c.608+6C>G
c.375C>G (p.Asn125Lys)
c.423C>G (p.Asn141Lys)
c.221C>G
n.809C>G
c.633C>G (p.Asn211Lys)
4g.6291360C>TCA2838953WFS1c.624C>T (p.Asn208=)
c.608+6C>T
c.375C>T (p.Asn125=)
c.423C>T (p.Asn141=)
c.221C>T
n.809C>T
c.633C>T (p.Asn211=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6291361G>ACA2838954WFS1c.625G>A (p.Glu209Lys)
c.608+7G>A
c.376G>A (p.Glu126Lys)
c.424G>A (p.Glu142Lys)
c.222G>A
n.810G>A
c.634G>A (p.Glu212Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6291361G>CCA356172170WFS1c.625G>C (p.Glu209Gln)
c.608+7G>C
c.376G>C (p.Glu126Gln)
c.424G>C (p.Glu142Gln)
c.222G>C
n.810G>C
c.634G>C (p.Glu212Gln)
4g.6291361G=CA1435768645WFS1c.625G= (p.Glu209=)
c.608+7G=
c.376G= (p.Glu126=)
c.424G= (p.Glu142=)
c.222G=
n.810G=
c.634G= (p.Glu212=)
4g.6291361G>TCA356172171WFS1c.625G>T (p.Glu209Ter)
c.608+7G>T
c.376G>T (p.Glu126Ter)
c.424G>T (p.Glu142Ter)
c.222G>T
n.810G>T
c.634G>T (p.Glu212Ter)
gnomAD v4
4g.6291362A>CCA356172172WFS1c.626A>C (p.Glu209Ala)
c.608+8A>C
c.377A>C (p.Glu126Ala)
c.425A>C (p.Glu142Ala)
c.223A>C
n.811A>C
c.635A>C (p.Glu212Ala)
4g.6291362A>GCA356172173WFS1c.626A>G (p.Glu209Gly)
c.608+8A>G
c.377A>G (p.Glu126Gly)
c.425A>G (p.Glu142Gly)
c.223A>G
n.811A>G
c.635A>G (p.Glu212Gly)
4g.6291362A>TCA356172174WFS1c.626A>T (p.Glu209Val)
c.608+8A>T
c.377A>T (p.Glu126Val)
c.425A>T (p.Glu142Val)
c.223A>T
n.811A>T
c.635A>T (p.Glu212Val)
4g.6291363G>ACA438211021WFS1c.627G>A (p.Glu209=)
c.608+9G>A
c.378G>A (p.Glu126=)
c.426G>A (p.Glu142=)
c.224G>A
n.812G>A
c.636G>A (p.Glu212=)
gnomAD v4
4g.6291363G>CCA356172175WFS1c.627G>C (p.Glu209Asp)
c.608+9G>C
c.378G>C (p.Glu126Asp)
c.426G>C (p.Glu142Asp)
c.224G>C
n.812G>C
c.636G>C (p.Glu212Asp)
4g.6291363G>TCA356172176WFS1c.627G>T (p.Glu209Asp)
c.608+9G>T
c.378G>T (p.Glu126Asp)
c.426G>T (p.Glu142Asp)
c.224G>T
n.812G>T
c.636G>T (p.Glu212Asp)
4g.6291364C>ACA356172177WFS1c.628C>A (p.His210Asn)
c.608+10C>A
c.379C>A (p.His127Asn)
c.427C>A (p.His143Asn)
c.225C>A
n.813C>A
c.637C>A (p.His213Asn)
4g.6291364C=CA1435768646WFS1c.628C= (p.His210=)
c.608+10C=
c.379C= (p.His127=)
c.427C= (p.His143=)
c.225C=
n.813C=
c.637C= (p.His213=)
4g.6291364C>GCA356172178WFS1c.628C>G (p.His210Asp)
c.608+10C>G
c.379C>G (p.His127Asp)
c.427C>G (p.His143Asp)
c.225C>G
n.813C>G
c.637C>G (p.His213Asp)
4g.6291364C>TCA356172179WFS1c.628C>T (p.His210Tyr)
c.608+10C>T
c.379C>T (p.His127Tyr)
c.427C>T (p.His143Tyr)
c.225C>T
n.813C>T
c.637C>T (p.His213Tyr)
dbSNP
4g.6291365A>CCA356172182WFS1c.629A>C (p.His210Pro)
c.608+11A>C
c.380A>C (p.His127Pro)
c.428A>C (p.His143Pro)
c.226A>C
n.814A>C
c.638A>C (p.His213Pro)
4g.6291365A>GCA356172180WFS1c.629A>G (p.His210Arg)
c.608+11A>G
c.380A>G (p.His127Arg)
c.428A>G (p.His143Arg)
c.226A>G
n.814A>G
c.638A>G (p.His213Arg)
4g.6291365A>TCA356172181WFS1c.629A>T (p.His210Leu)
c.608+11A>T
c.380A>T (p.His127Leu)
c.428A>T (p.His143Leu)
c.226A>T
n.814A>T
c.638A>T (p.His213Leu)
4g.6291365dupCA2669825957WFS1c.629dup (p.His210GlnfsTer?)
c.608+11dup
c.380dup (p.His127GlnfsTer?)
c.428dup (p.His143GlnfsTer?)
c.226dup
n.814dup
c.638dup (p.His213GlnfsTer?)
gnomAD v4
4g.6291366C>ACA356172183WFS1c.630C>A (p.His210Gln)
c.608+12C>A
c.381C>A (p.His127Gln)
c.429C>A (p.His143Gln)
c.227C>A
n.815C>A
c.639C>A (p.His213Gln)
4g.6291366C=CA1435768647WFS1c.630C= (p.His210=)
c.608+12C=
c.381C= (p.His127=)
c.429C= (p.His143=)
c.227C=
n.815C=
c.639C= (p.His213=)
4g.6291366C>GCA356172184WFS1c.630C>G (p.His210Gln)
c.608+12C>G
c.381C>G (p.His127Gln)
c.429C>G (p.His143Gln)
c.227C>G
n.815C>G
c.639C>G (p.His213Gln)
4g.6291366C>TCA2838955WFS1c.630C>T (p.His210=)
c.608+12C>T
c.381C>T (p.His127=)
c.429C>T (p.His143=)
c.227C>T
n.815C>T
c.639C>T (p.His213=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6291367G>ACA320894WFS1c.631G>A (p.Asp211Asn)
c.608+13G>A
c.631G>A (p.Gly211Ser)
c.382G>A (p.Asp128Asn)
c.430G>A (p.Asp144Asn)
c.228G>A
n.816G>A
c.640G>A (p.Asp214Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6291367G>CCA356172185WFS1c.631G>C (p.Asp211His)
c.608+13G>C
c.631G>C (p.Gly211Arg)
c.382G>C (p.Asp128His)
c.430G>C (p.Asp144His)
c.228G>C
n.816G>C
c.640G>C (p.Asp214His)
gnomAD v4
4g.6291367G=CA1435768648WFS1c.631G= (p.Asp211=)
c.608+13G=
c.631G= (p.Gly211=)
c.382G= (p.Asp128=)
c.430G= (p.Asp144=)
c.228G=
n.816G=
c.640G= (p.Asp214=)
4g.6291367G>TCA356172186WFS1c.631G>T (p.Asp211Tyr)
c.608+13G>T
c.631G>T (p.Gly211Cys)
c.382G>T (p.Asp128Tyr)
c.430G>T (p.Asp144Tyr)
c.228G>T
n.816G>T
c.640G>T (p.Asp214Tyr)
4g.6291368delCA2586973596WFS1c.631+1del
c.608+14del
c.632del (p.Gly211ValfsTer?)
c.382+1del
c.430+1del
c.228+1del
n.816+1del
c.640+1del
4g.6291368G>ACA356172187WFS1c.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
4g.6291368G>CCA356172188WFS1c.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)
4g.6291368G=CA1435768649WFS1c.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=)
4g.6291368G>TCA356172189WFS1c.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)
4g.6291369T>ACA356172190WFS1c.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)
4g.6291369T>CCA356172191WFS1c.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
4g.6291369T>GCA91794582WFS1c.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
4g.6291369T=CA1435768650WFS1c.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=)
4g.6291370G>ACA2838956WFS1c.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
4g.6291370G=CA1435768651WFS1c.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=)
4g.6291371C=CA1435768652WFS1c.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=)
4g.6291371C>GCA2838958WFS1c.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
4g.6291371C>TCA2838957WFS1c.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
4g.6291372G>ACA323223WFS1c.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
4g.6291372G=CA1435768653WFS1c.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=)
4g.6291372G>TCA2669825970WFS1c.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
4g.6291374G>ACA91794583WFS1c.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
4g.6291374G=CA1435768654WFS1c.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=)
4g.6291375G>CCA2838959WFS1c.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
4g.6291375G=CA1435768655WFS1c.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=)
4g.6291375G>TCA2669825971WFS1c.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
4g.6291378T>ACA2669825975WFS1c.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
4g.6291378T>CCA2838960WFS1c.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
4g.6291378T=CA1435768656WFS1c.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=)
4g.6291379C=CA1435768657WFS1c.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=)
4g.6291379C>TCA2838961WFS1c.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
4g.6291380A>CCA2669825980WFS1c.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
4g.6291380_6291396dupCA797127878WFS1c.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
4g.6291380_6291397delinsACCCTGGGCACCAGCCTTCA1435768658WFS1c.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)
4g.6291381C=CA1435768659WFS1c.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=)
4g.6291381C>TCA549707976WFS1c.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
4g.6291389_6291405dupCA2669825981WFS1c.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
4g.6291389_6291405delCA797127881WFS1c.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
4g.6291382C>ACA2669825982WFS1c.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
4g.6291382C=CA1435768661WFS1c.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=)
4g.6291382C>TCA1435768660WFS1c.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
4g.6291382_6291383insACCA2838962WFS1c.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
4g.6291383C>ACA2578035749WFS1c.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)
4g.6291383C>TCA2669825983WFS1c.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
4g.6291384T=CA1435768662WFS1c.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=)
4g.6291384_6291385insCCA2838963WFS1c.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
4g.6291385G>ACA438211024WFS1c.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
4g.6291385G>CCA2578035750WFS1c.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)
4g.6291385G=CA1435768663WFS1c.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=)
4g.6291385_6291386insCACCACGGTGCGAGGAACA2838964WFS1c.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
4g.6291386G>CCA1435768665WFS1c.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
4g.6291386G=CA1435768664WFS1c.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=)
4g.6291386_6291387insCCCA2760283877WFS1c.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)
4g.6291387G>ACA549707977WFS1c.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
4g.6291387G>CCA2760283878WFS1c.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)
4g.6291387G=CA1435768666WFS1c.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=)
4g.6291387G>TCA2669825984WFS1c.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
4g.6291387_6291388insACATTCTCCAACACCCAACCAAACACACCCAACACA2760283881WFS1c.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)
4g.6291388C>ACA2509578412WFS1c.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)
4g.6291388C=CA1435768667WFS1c.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=)
4g.6291388C>TCA549707978WFS1c.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
4g.6291389A=CA1435768668WFS1c.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=)
4g.6291389A>GCA2838965WFS1c.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
4g.6291389_6291406delinsACCAGCCTTCCCTGGGCGCA1435768669WFS1c.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)
4g.6291390C>ACA2561026765WFS1c.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
4g.6291390C=CA1435768670WFS1c.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=)
4g.6291390C>GCA2669825985WFS1c.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
4g.6291390C>TCA2838967WFS1c.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
4g.6291401_6291417dupCA2669825986WFS1c.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
4g.6291401_6291417delCA2838966WFS1c.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
4g.6291391C>ACA2669825987WFS1c.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
4g.6291391C=CA1435768671WFS1c.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=)
4g.6291391C>GCA2669825988WFS1c.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
4g.6291391C>TCA2838968WFS1c.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
4g.6291392A=CA1435768672WFS1c.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=)
4g.6291392A>GCA91794584WFS1c.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
4g.6291393G>TCA2669825989WFS1c.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
4g.6291394C>ACA91794585WFS1c.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
4g.6291394C=CA1435768673WFS1c.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=)
4g.6291394C>GCA2760283887WFS1c.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)
4g.6291395C>ACA2578035751WFS1c.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)
4g.6291395C>TCA2669825990WFS1c.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
4g.6291397T>ACA1435768674WFS1c.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
4g.6291397T>CCA2838969WFS1c.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
4g.6291397T=CA1435768675WFS1c.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=)
4g.6291398C>ACA2669825991WFS1c.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
4g.6291398C=CA1435768676WFS1c.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=)
4g.6291398C>GCA2838970WFS1c.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
4g.6291398C>TCA549707979WFS1c.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
4g.6291399C=CA1435768677WFS1c.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=)
4g.6291399C>TCA1435768678WFS1c.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
4g.6291400C>ACA2669825992WFS1c.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
4g.6291400C=CA1435768679WFS1c.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=)
4g.6291400C>GCA549707980WFS1c.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
4g.6291401T>GCA2669825993WFS1c.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
4g.6291402G=CA1435768680WFS1c.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=)
4g.6291402G>TCA549707981WFS1c.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
4g.6291403G>ACA2669825994WFS1c.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
4g.6291403G>CCA2669825995WFS1c.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
4g.6291405C>ACA2669825996WFS1c.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
4g.6291405C=CA1435768681WFS1c.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=)
4g.6291405C>GCA549707982WFS1c.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
4g.6291405C>TCA2838971WFS1c.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
4g.6291406G>ACA2838972WFS1c.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
4g.6291406G=CA1435768682WFS1c.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=)
4g.6291406G>TCA2669825998WFS1c.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
4g.6291411_6291428delCA2669825997WFS1c.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
4g.6291407C>ACA2669825999WFS1c.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
4g.6291408C>TCA2669826000WFS1c.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
4g.6291409A>GCA2669826001WFS1c.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
4g.6291410G>TCA2669826002WFS1c.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
4g.6291411C>ACA1058888805WFS1c.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
4g.6291411C=CA1435768683WFS1c.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=)
4g.6291411C>TCA2669826004WFS1c.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
4g.6291419_6291438delCA2669826003WFS1c.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
4g.6291414T>ACA549707983WFS1c.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
4g.6291414T=CA1435768684WFS1c.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=)
4g.6291415C>ACA2669826005WFS1c.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
4g.6291415C=CA1435768685WFS1c.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=)
4g.6291415C>TCA91794586WFS1c.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
4g.6291416C=CA1435768686WFS1c.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=)
4g.6291416C>GCA2838973WFS1c.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
4g.6291417C>ACA2578035752WFS1c.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
4g.6291417C=CA1435768687WFS1c.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=)
4g.6291417C>TCA797127934WFS1c.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
4g.6291418A=CA1435768688WFS1c.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=)
4g.6291418A>GCA2838974WFS1c.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
4g.6291419C=CA1435768689WFS1c.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=)
4g.6291419C>GCA549707984WFS1c.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
4g.6291419C>TCA2838975WFS1c.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
4g.6291420A>GCA2669826006WFS1c.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
4g.6291421G>TCA2669826007WFS1c.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
4g.6291423A>GCA2669826008WFS1c.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
4g.6291424G>ACA549707985WFS1c.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
4g.6291424G=CA1435768690WFS1c.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=)
4g.6291424G>TCA1435768691WFS1c.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
4g.6291426C>ACA2669826009WFS1c.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
4g.6291426C>TCA2669826010WFS1c.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
4g.6291427A>GCA2669826011WFS1c.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
4g.6291427_6291447delinsAGGACCTTCCCATAGGGGCTGCA1435768692WFS1c.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)
4g.6291428G>TCA2669826012WFS1c.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
4g.6291438_6291457delCA549707986WFS1c.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
4g.6291429G>ACA2578035753WFS1c.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)
4g.6291429G>TCA2669826013WFS1c.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
4g.6291431C>ACA2669826014WFS1c.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
4g.6291431C>GCA2669826016WFS1c.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
4g.6291431C>TCA2669826015WFS1c.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

Number of alleles fetched