Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.6289047G>ACA2838877WFS1c.376G>A (p.Ala126Thr)
c.366G>A
c.127G>A (p.Ala43Thr)
c.175G>A (p.Ala59Thr)
c.250G>A (p.Ala84Thr)
n.561G>A
c.385G>A (p.Ala129Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6289047G>CCA356171480WFS1c.376G>C (p.Ala126Pro)
c.366G>C
c.127G>C (p.Ala43Pro)
c.175G>C (p.Ala59Pro)
c.250G>C (p.Ala84Pro)
n.561G>C
c.385G>C (p.Ala129Pro)
4g.6289047G=CA1435766699WFS1c.376G= (p.Ala126=)
c.366G=
c.127G= (p.Ala43=)
c.175G= (p.Ala59=)
c.250G= (p.Ala84=)
n.561G=
c.385G= (p.Ala129=)
4g.6289047G>TCA356171482WFS1c.376G>T (p.Ala126Ser)
c.366G>T
c.127G>T (p.Ala43Ser)
c.175G>T (p.Ala59Ser)
c.250G>T (p.Ala84Ser)
n.561G>T
c.385G>T (p.Ala129Ser)
gnomAD v4
4g.6289048C>ACA356171484WFS1c.377C>A (p.Ala126Asp)
c.367C>A
c.128C>A (p.Ala43Asp)
c.176C>A (p.Ala59Asp)
c.251C>A (p.Ala84Asp)
n.562C>A
c.386C>A (p.Ala129Asp)
4g.6289048C>GCA356171488WFS1c.377C>G (p.Ala126Gly)
c.367C>G
c.128C>G (p.Ala43Gly)
c.176C>G (p.Ala59Gly)
c.251C>G (p.Ala84Gly)
n.562C>G
c.386C>G (p.Ala129Gly)
4g.6289048C>TCA356171486WFS1c.377C>T (p.Ala126Val)
c.367C>T
c.128C>T (p.Ala43Val)
c.176C>T (p.Ala59Val)
c.251C>T (p.Ala84Val)
n.562C>T
c.386C>T (p.Ala129Val)
gnomAD v4
4g.6289049T>ACA438210784WFS1c.378T>A (p.Ala126=)
c.368T>A
c.129T>A (p.Ala43=)
c.177T>A (p.Ala59=)
c.252T>A (p.Ala84=)
n.563T>A
c.387T>A (p.Ala129=)
4g.6289049T>CCA438210788WFS1c.378T>C (p.Ala126=)
c.368T>C
c.129T>C (p.Ala43=)
c.177T>C (p.Ala59=)
c.252T>C (p.Ala84=)
n.563T>C
c.387T>C (p.Ala129=)
4g.6289049T>GCA438210786WFS1c.378T>G (p.Ala126=)
c.368T>G
c.129T>G (p.Ala43=)
c.177T>G (p.Ala59=)
c.252T>G (p.Ala84=)
n.563T>G
c.387T>G (p.Ala129=)
4g.6289050G>ACA356171490WFS1c.379G>A (p.Val127Met)
c.369G>A
c.130G>A (p.Val44Met)
c.178G>A (p.Val60Met)
c.253G>A (p.Val85Met)
n.564G>A
c.388G>A (p.Val130Met)
dbSNP gnomAD v4
4g.6289050G>CCA356171492WFS1c.379G>C (p.Val127Leu)
c.369G>C
c.130G>C (p.Val44Leu)
c.178G>C (p.Val60Leu)
c.253G>C (p.Val85Leu)
n.564G>C
c.388G>C (p.Val130Leu)
4g.6289050G=CA1435766709WFS1c.379G= (p.Val127=)
c.369G=
c.130G= (p.Val44=)
c.178G= (p.Val60=)
c.253G= (p.Val85=)
n.564G=
c.388G= (p.Val130=)
4g.6289050G>TCA356171494WFS1c.379G>T (p.Val127Leu)
c.369G>T
c.130G>T (p.Val44Leu)
c.178G>T (p.Val60Leu)
c.253G>T (p.Val85Leu)
n.564G>T
c.388G>T (p.Val130Leu)
4g.6289051T>ACA356171496WFS1c.380T>A (p.Val127Glu)
c.370T>A
c.131T>A (p.Val44Glu)
c.179T>A (p.Val60Glu)
c.254T>A (p.Val85Glu)
n.565T>A
c.389T>A (p.Val130Glu)
4g.6289051T>CCA356171498WFS1c.380T>C (p.Val127Ala)
c.370T>C
c.131T>C (p.Val44Ala)
c.179T>C (p.Val60Ala)
c.254T>C (p.Val85Ala)
n.565T>C
c.389T>C (p.Val130Ala)
4g.6289051T>GCA356171500WFS1c.380T>G (p.Val127Gly)
c.370T>G
c.131T>G (p.Val44Gly)
c.179T>G (p.Val60Gly)
c.254T>G (p.Val85Gly)
n.565T>G
c.389T>G (p.Val130Gly)
4g.6289052G>ACA438210790WFS1c.381G>A (p.Val127=)
c.371G>A
c.132G>A (p.Val44=)
c.180G>A (p.Val60=)
c.255G>A (p.Val85=)
n.566G>A
c.390G>A (p.Val130=)
gnomAD v4
4g.6289052G>CCA438210792WFS1c.381G>C (p.Val127=)
c.371G>C
c.132G>C (p.Val44=)
c.180G>C (p.Val60=)
c.255G>C (p.Val85=)
n.566G>C
c.390G>C (p.Val130=)
gnomAD v4
4g.6289052G>TCA438210793WFS1c.381G>T (p.Val127=)
c.371G>T
c.132G>T (p.Val44=)
c.180G>T (p.Val60=)
c.255G>T (p.Val85=)
n.566G>T
c.390G>T (p.Val130=)
4g.6289053G>ACA356171505WFS1c.382G>A (p.Asp128Asn)
c.372G>A
c.133G>A (p.Asp45Asn)
c.181G>A (p.Asp61Asn)
c.256G>A (p.Asp86Asn)
n.567G>A
c.391G>A (p.Asp131Asn)
dbSNP gnomAD v2
4g.6289053G>CCA356171502WFS1c.382G>C (p.Asp128His)
c.372G>C
c.133G>C (p.Asp45His)
c.181G>C (p.Asp61His)
c.256G>C (p.Asp86His)
n.567G>C
c.391G>C (p.Asp131His)
4g.6289053G=CA1435766711WFS1c.382G= (p.Asp128=)
c.372G=
c.133G= (p.Asp45=)
c.181G= (p.Asp61=)
c.256G= (p.Asp86=)
n.567G=
c.391G= (p.Asp131=)
4g.6289053G>TCA2838878WFS1c.382G>T (p.Asp128Tyr)
c.372G>T
c.133G>T (p.Asp45Tyr)
c.181G>T (p.Asp61Tyr)
c.256G>T (p.Asp86Tyr)
n.567G>T
c.391G>T (p.Asp131Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6289054A>CCA356171507WFS1c.383A>C (p.Asp128Ala)
c.373A>C
c.134A>C (p.Asp45Ala)
c.182A>C (p.Asp61Ala)
c.257A>C (p.Asp86Ala)
n.568A>C
c.392A>C (p.Asp131Ala)
4g.6289054A>GCA356171510WFS1c.383A>G (p.Asp128Gly)
c.373A>G
c.134A>G (p.Asp45Gly)
c.182A>G (p.Asp61Gly)
c.257A>G (p.Asp86Gly)
n.568A>G
c.392A>G (p.Asp131Gly)
4g.6289054A>TCA356171512WFS1c.383A>T (p.Asp128Val)
c.373A>T
c.134A>T (p.Asp45Val)
c.182A>T (p.Asp61Val)
c.257A>T (p.Asp86Val)
n.568A>T
c.392A>T (p.Asp131Val)
4g.6289055C>ACA356171514WFS1c.384C>A (p.Asp128Glu)
c.374C>A
c.135C>A (p.Asp45Glu)
c.183C>A (p.Asp61Glu)
c.258C>A (p.Asp86Glu)
n.569C>A
c.393C>A (p.Asp131Glu)
4g.6289055C>GCA356171516WFS1c.384C>G (p.Asp128Glu)
c.374C>G
c.135C>G (p.Asp45Glu)
c.183C>G (p.Asp61Glu)
c.258C>G (p.Asp86Glu)
n.569C>G
c.393C>G (p.Asp131Glu)
4g.6289055C>TCA438210796WFS1c.384C>T (p.Asp128=)
c.374C>T
c.135C>T (p.Asp45=)
c.183C>T (p.Asp61=)
c.258C>T (p.Asp86=)
n.569C>T
c.393C>T (p.Asp131=)
4g.6289056T>ACA356171518WFS1c.385T>A (p.Trp129Arg)
c.375T>A
c.136T>A (p.Trp46Arg)
c.184T>A (p.Trp62Arg)
c.259T>A (p.Trp87Arg)
n.570T>A
c.394T>A (p.Trp132Arg)
4g.6289056T>CCA356171522WFS1c.385T>C (p.Trp129Arg)
c.375T>C
c.136T>C (p.Trp46Arg)
c.184T>C (p.Trp62Arg)
c.259T>C (p.Trp87Arg)
n.570T>C
c.394T>C (p.Trp132Arg)
4g.6289056T>GCA356171520WFS1c.385T>G (p.Trp129Gly)
c.375T>G
c.136T>G (p.Trp46Gly)
c.184T>G (p.Trp62Gly)
c.259T>G (p.Trp87Gly)
n.570T>G
c.394T>G (p.Trp132Gly)
4g.6289057G>ACA356171524WFS1c.386G>A (p.Trp129Ter)
c.376G>A
c.137G>A (p.Trp46Ter)
c.185G>A (p.Trp62Ter)
c.260G>A (p.Trp87Ter)
n.571G>A
c.395G>A (p.Trp132Ter)
gnomAD v4
4g.6289057G>CCA356171526WFS1c.386G>C (p.Trp129Ser)
c.376G>C
c.137G>C (p.Trp46Ser)
c.185G>C (p.Trp62Ser)
c.260G>C (p.Trp87Ser)
n.571G>C
c.395G>C (p.Trp132Ser)
4g.6289057G>TCA356171528WFS1c.386G>T (p.Trp129Leu)
c.376G>T
c.137G>T (p.Trp46Leu)
c.185G>T (p.Trp62Leu)
c.260G>T (p.Trp87Leu)
n.571G>T
c.395G>T (p.Trp132Leu)
4g.6289057_6289069delCA2580071761WFS1c.386_398del (p.Trp129SerfsTer10)
c.376_388del
c.137_149del (p.Trp46SerfsTer10)
c.185_197del (p.Trp62SerfsTer10)
c.260_272del (p.Trp87SerfsTer10)
n.571_583del
c.395_407del (p.Trp132SerfsTer10)
ClinVar
4g.6289058G>ACA2838879WFS1c.387G>A (p.Trp129Ter)
c.377G>A
c.138G>A (p.Trp46Ter)
c.186G>A (p.Trp62Ter)
c.261G>A (p.Trp87Ter)
n.572G>A
c.396G>A (p.Trp132Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6289058G>CCA356171531WFS1c.387G>C (p.Trp129Cys)
c.377G>C
c.138G>C (p.Trp46Cys)
c.186G>C (p.Trp62Cys)
c.261G>C (p.Trp87Cys)
n.572G>C
c.396G>C (p.Trp132Cys)
4g.6289058G=CA1435766715WFS1c.387G= (p.Trp129=)
c.377G=
c.138G= (p.Trp46=)
c.186G= (p.Trp62=)
c.261G= (p.Trp87=)
n.572G=
c.396G= (p.Trp132=)
4g.6289058G>TCA356171533WFS1c.387G>T (p.Trp129Cys)
c.377G>T
c.138G>T (p.Trp46Cys)
c.186G>T (p.Trp62Cys)
c.261G>T (p.Trp87Cys)
n.572G>T
c.396G>T (p.Trp132Cys)
4g.6289059C>ACA356171535WFS1c.388C>A (p.Leu130Met)
c.378C>A
c.139C>A (p.Leu47Met)
c.187C>A (p.Leu63Met)
c.262C>A (p.Leu88Met)
n.573C>A
c.397C>A (p.Leu133Met)
dbSNP gnomAD v2 gnomAD v4
4g.6289059C=CA1435766721WFS1c.388C= (p.Leu130=)
c.378C=
c.139C= (p.Leu47=)
c.187C= (p.Leu63=)
c.262C= (p.Leu88=)
n.573C=
c.397C= (p.Leu133=)
4g.6289059C>GCA356171537WFS1c.388C>G (p.Leu130Val)
c.378C>G
c.139C>G (p.Leu47Val)
c.187C>G (p.Leu63Val)
c.262C>G (p.Leu88Val)
n.573C>G
c.397C>G (p.Leu133Val)
4g.6289059C>TCA438210803WFS1c.388C>T (p.Leu130=)
c.378C>T
c.139C>T (p.Leu47=)
c.187C>T (p.Leu63=)
c.262C>T (p.Leu88=)
n.573C>T
c.397C>T (p.Leu133=)
gnomAD v4
4g.6289060T>ACA356171539WFS1c.389T>A (p.Leu130Gln)
c.379T>A
c.140T>A (p.Leu47Gln)
c.188T>A (p.Leu63Gln)
c.263T>A (p.Leu88Gln)
n.574T>A
c.398T>A (p.Leu133Gln)
4g.6289060T>CCA356171541WFS1c.389T>C (p.Leu130Pro)
c.379T>C
c.140T>C (p.Leu47Pro)
c.188T>C (p.Leu63Pro)
c.263T>C (p.Leu88Pro)
n.574T>C
c.398T>C (p.Leu133Pro)
gnomAD v4
4g.6289060T>GCA356171543WFS1c.389T>G (p.Leu130Arg)
c.379T>G
c.140T>G (p.Leu47Arg)
c.188T>G (p.Leu63Arg)
c.263T>G (p.Leu88Arg)
n.574T>G
c.398T>G (p.Leu133Arg)
4g.6289061G>ACA438210805WFS1c.390G>A (p.Leu130=)
c.380G>A
c.141G>A (p.Leu47=)
c.189G>A (p.Leu63=)
c.264G>A (p.Leu88=)
n.575G>A
c.399G>A (p.Leu133=)
dbSNP gnomAD v2 gnomAD v4
4g.6289061G>CCA438210806WFS1c.390G>C (p.Leu130=)
c.380G>C
c.141G>C (p.Leu47=)
c.189G>C (p.Leu63=)
c.264G>C (p.Leu88=)
n.575G>C
c.399G>C (p.Leu133=)
4g.6289061G=CA1435766723WFS1c.390G= (p.Leu130=)
c.380G=
c.141G= (p.Leu47=)
c.189G= (p.Leu63=)
c.264G= (p.Leu88=)
n.575G=
c.399G= (p.Leu133=)
4g.6289061G>TCA438210807WFS1c.390G>T (p.Leu130=)
c.380G>T
c.141G>T (p.Leu47=)
c.189G>T (p.Leu63=)
c.264G>T (p.Leu88=)
n.575G>T
c.399G>T (p.Leu133=)
4g.6289062G>ACA356171546WFS1c.391G>A (p.Val131Ile)
c.381G>A
c.142G>A (p.Val48Ile)
c.190G>A (p.Val64Ile)
c.265G>A (p.Val89Ile)
n.576G>A
c.400G>A (p.Val134Ile)
gnomAD v2 gnomAD v4
4g.6289062G>CCA356171548WFS1c.391G>C (p.Val131Leu)
c.381G>C
c.142G>C (p.Val48Leu)
c.190G>C (p.Val64Leu)
c.265G>C (p.Val89Leu)
n.576G>C
c.400G>C (p.Val134Leu)
4g.6289062G>TCA356171545WFS1c.391G>T (p.Val131Phe)
c.381G>T
c.142G>T (p.Val48Phe)
c.190G>T (p.Val64Phe)
c.265G>T (p.Val89Phe)
n.576G>T
c.400G>T (p.Val134Phe)
4g.6289062_6289063delinsGTCA1435766727WFS1c.391_392delinsGT (p.Val131=)
c.381_382delinsGT
c.142_143delinsGT (p.Val48=)
c.190_191delinsGT (p.Val64=)
c.265_266delinsGT (p.Val89=)
n.576_577delinsGT
c.400_401delinsGT (p.Val134=)
4g.6289063delCA549422956WFS1c.392del (p.Val131AlafsTer12)
c.382del
c.143del (p.Val48AlafsTer12)
c.191del (p.Val64AlafsTer12)
c.266del (p.Val89AlafsTer12)
n.577del
c.401del (p.Val134AlafsTer12)
dbSNP gnomAD v2 gnomAD v4
4g.6289063T>ACA356171551WFS1c.392T>A (p.Val131Asp)
c.382T>A
c.143T>A (p.Val48Asp)
c.191T>A (p.Val64Asp)
c.266T>A (p.Val89Asp)
n.577T>A
c.401T>A (p.Val134Asp)
4g.6289063T>CCA356171550WFS1c.392T>C (p.Val131Ala)
c.382T>C
c.143T>C (p.Val48Ala)
c.191T>C (p.Val64Ala)
c.266T>C (p.Val89Ala)
n.577T>C
c.401T>C (p.Val134Ala)
4g.6289063T>GCA2838880WFS1c.392T>G (p.Val131Gly)
c.382T>G
c.143T>G (p.Val48Gly)
c.191T>G (p.Val64Gly)
c.266T>G (p.Val89Gly)
n.577T>G
c.401T>G (p.Val134Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6289063T=CA1435766733WFS1c.392T= (p.Val131=)
c.382T=
c.143T= (p.Val48=)
c.191T= (p.Val64=)
c.266T= (p.Val89=)
n.577T=
c.401T= (p.Val134=)
4g.6289064C>ACA438210810WFS1c.393C>A (p.Val131=)
c.383C>A
c.144C>A (p.Val48=)
c.192C>A (p.Val64=)
c.267C>A (p.Val89=)
n.578C>A
c.402C>A (p.Val134=)
gnomAD v4
4g.6289064C=CA1435766737WFS1c.393C= (p.Val131=)
c.383C=
c.144C= (p.Val48=)
c.192C= (p.Val64=)
c.267C= (p.Val89=)
n.578C=
c.402C= (p.Val134=)
4g.6289064C>GCA438210808WFS1c.393C>G (p.Val131=)
c.383C>G
c.144C>G (p.Val48=)
c.192C>G (p.Val64=)
c.267C>G (p.Val89=)
n.578C>G
c.402C>G (p.Val134=)
4g.6289064C>TCA2838881WFS1c.393C>T (p.Val131=)
c.383C>T
c.144C>T (p.Val48=)
c.192C>T (p.Val64=)
c.267C>T (p.Val89=)
n.578C>T
c.402C>T (p.Val134=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6289065C>ACA356171555WFS1c.394C>A (p.Leu132Ile)
c.384C>A
c.145C>A (p.Leu49Ile)
c.193C>A (p.Leu65Ile)
c.268C>A (p.Leu90Ile)
n.579C>A
c.403C>A (p.Leu135Ile)
gnomAD v4
4g.6289065C=CA1435766739WFS1c.394C= (p.Leu132=)
c.384C=
c.145C= (p.Leu49=)
c.193C= (p.Leu65=)
c.268C= (p.Leu90=)
n.579C=
c.403C= (p.Leu135=)
4g.6289065C>GCA91794310WFS1c.394C>G (p.Leu132Val)
c.384C>G
c.145C>G (p.Leu49Val)
c.193C>G (p.Leu65Val)
c.268C>G (p.Leu90Val)
n.579C>G
c.403C>G (p.Leu135Val)
dbSNP gnomAD v4
4g.6289065C>TCA356171558WFS1c.394C>T (p.Leu132Phe)
c.384C>T
c.145C>T (p.Leu49Phe)
c.193C>T (p.Leu65Phe)
c.268C>T (p.Leu90Phe)
n.579C>T
c.403C>T (p.Leu135Phe)
4g.6289066T>ACA356171559WFS1c.395T>A (p.Leu132His)
c.385T>A
c.146T>A (p.Leu49His)
c.194T>A (p.Leu65His)
c.269T>A (p.Leu90His)
n.580T>A
c.404T>A (p.Leu135His)
4g.6289066T>CCA356171561WFS1c.395T>C (p.Leu132Pro)
c.385T>C
c.146T>C (p.Leu49Pro)
c.194T>C (p.Leu65Pro)
c.269T>C (p.Leu90Pro)
n.580T>C
c.404T>C (p.Leu135Pro)
gnomAD v3 gnomAD v4
4g.6289066T>GCA2838882WFS1c.395T>G (p.Leu132Arg)
c.385T>G
c.146T>G (p.Leu49Arg)
c.194T>G (p.Leu65Arg)
c.269T>G (p.Leu90Arg)
n.580T>G
c.404T>G (p.Leu135Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6289066T=CA1435766743WFS1c.395T= (p.Leu132=)
c.385T=
c.146T= (p.Leu49=)
c.194T= (p.Leu65=)
c.269T= (p.Leu90=)
n.580T=
c.404T= (p.Leu135=)
4g.6289067C>ACA438210812WFS1c.396C>A (p.Leu132=)
c.386C>A
c.147C>A (p.Leu49=)
c.195C>A (p.Leu65=)
c.270C>A (p.Leu90=)
n.581C>A
c.405C>A (p.Leu135=)
gnomAD v4
4g.6289067C=CA1435766749WFS1c.396C= (p.Leu132=)
c.386C=
c.147C= (p.Leu49=)
c.195C= (p.Leu65=)
c.270C= (p.Leu90=)
n.581C=
c.405C= (p.Leu135=)
4g.6289067C>GCA438210813WFS1c.396C>G (p.Leu132=)
c.386C>G
c.147C>G (p.Leu49=)
c.195C>G (p.Leu65=)
c.270C>G (p.Leu90=)
n.581C>G
c.405C>G (p.Leu135=)
ClinVar dbSNP gnomAD v4
4g.6289067C>TCA2838883WFS1c.396C>T (p.Leu132=)
c.386C>T
c.147C>T (p.Leu49=)
c.195C>T (p.Leu65=)
c.270C>T (p.Leu90=)
n.581C>T
c.405C>T (p.Leu135=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6289068G>ACA91794311WFS1c.397G>A (p.Ala133Thr)
c.387G>A
c.148G>A (p.Ala50Thr)
c.196G>A (p.Ala66Thr)
c.271G>A (p.Ala91Thr)
n.582G>A
c.406G>A (p.Ala136Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6289068G>CCA356171565WFS1c.397G>C (p.Ala133Pro)
c.387G>C
c.148G>C (p.Ala50Pro)
c.196G>C (p.Ala66Pro)
c.271G>C (p.Ala91Pro)
n.582G>C
c.406G>C (p.Ala136Pro)
4g.6289068G=CA1435766753WFS1c.397G= (p.Ala133=)
c.387G=
c.148G= (p.Ala50=)
c.196G= (p.Ala66=)
c.271G= (p.Ala91=)
n.582G=
c.406G= (p.Ala136=)
4g.6289068G>TCA356171566WFS1c.397G>T (p.Ala133Ser)
c.387G>T
c.148G>T (p.Ala50Ser)
c.196G>T (p.Ala66Ser)
c.271G>T (p.Ala91Ser)
n.582G>T
c.406G>T (p.Ala136Ser)
4g.6289069C>ACA356171568WFS1c.398C>A (p.Ala133Asp)
c.388C>A
c.149C>A (p.Ala50Asp)
c.197C>A (p.Ala66Asp)
c.272C>A (p.Ala91Asp)
n.583C>A
c.407C>A (p.Ala136Asp)
4g.6289069C>GCA356171571WFS1c.398C>G (p.Ala133Gly)
c.388C>G
c.149C>G (p.Ala50Gly)
c.197C>G (p.Ala66Gly)
c.272C>G (p.Ala91Gly)
n.583C>G
c.407C>G (p.Ala136Gly)
4g.6289069C>TCA356171573WFS1c.398C>T (p.Ala133Val)
c.388C>T
c.149C>T (p.Ala50Val)
c.197C>T (p.Ala66Val)
c.272C>T (p.Ala91Val)
n.583C>T
c.407C>T (p.Ala136Val)
gnomAD v4
4g.6289070C>ACA438210814WFS1c.399C>A (p.Ala133=)
c.389C>A
c.150C>A (p.Ala50=)
c.198C>A (p.Ala66=)
c.273C>A (p.Ala91=)
n.584C>A
c.408C>A (p.Ala136=)
4g.6289070C=CA1435766761WFS1c.399C= (p.Ala133=)
c.389C=
c.150C= (p.Ala50=)
c.198C= (p.Ala66=)
c.273C= (p.Ala91=)
n.584C=
c.408C= (p.Ala136=)
4g.6289070C>GCA438210815WFS1c.399C>G (p.Ala133=)
c.389C>G
c.150C>G (p.Ala50=)
c.198C>G (p.Ala66=)
c.273C>G (p.Ala91=)
n.584C>G
c.408C>G (p.Ala136=)
4g.6289070C>TCA2838884WFS1c.399C>T (p.Ala133=)
c.389C>T
c.150C>T (p.Ala50=)
c.198C>T (p.Ala66=)
c.273C>T (p.Ala91=)
n.584C>T
c.408C>T (p.Ala136=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6289071G>ACA323087WFS1c.400G>A (p.Ala134Thr)
c.390G>A
c.151G>A (p.Ala51Thr)
c.199G>A (p.Ala67Thr)
c.274G>A (p.Ala92Thr)
n.585G>A
c.409G>A (p.Ala137Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6289071G>CCA356171577WFS1c.400G>C (p.Ala134Pro)
c.390G>C
c.151G>C (p.Ala51Pro)
c.199G>C (p.Ala67Pro)
c.274G>C (p.Ala92Pro)
n.585G>C
c.409G>C (p.Ala137Pro)
4g.6289071G=CA1435766770WFS1c.400G= (p.Ala134=)
c.390G=
c.151G= (p.Ala51=)
c.199G= (p.Ala67=)
c.274G= (p.Ala92=)
n.585G=
c.409G= (p.Ala137=)
4g.6289071G>TCA356171579WFS1c.400G>T (p.Ala134Ser)
c.390G>T
c.151G>T (p.Ala51Ser)
c.199G>T (p.Ala67Ser)
c.274G>T (p.Ala92Ser)
n.585G>T
c.409G>T (p.Ala137Ser)
4g.6289072C>ACA356171581WFS1c.401C>A (p.Ala134Glu)
c.391C>A
c.152C>A (p.Ala51Glu)
c.200C>A (p.Ala67Glu)
c.275C>A (p.Ala92Glu)
n.586C>A
c.410C>A (p.Ala137Glu)
4g.6289072C=CA1435766782WFS1c.401C= (p.Ala134=)
c.391C=
c.152C= (p.Ala51=)
c.200C= (p.Ala67=)
c.275C= (p.Ala92=)
n.586C=
c.410C= (p.Ala137=)
4g.6289072C>GCA356171583WFS1c.401C>G (p.Ala134Gly)
c.391C>G
c.152C>G (p.Ala51Gly)
c.200C>G (p.Ala67Gly)
c.275C>G (p.Ala92Gly)
n.586C>G
c.410C>G (p.Ala137Gly)
4g.6289072C>TCA2838885WFS1c.401C>T (p.Ala134Val)
c.391C>T
c.152C>T (p.Ala51Val)
c.200C>T (p.Ala67Val)
c.275C>T (p.Ala92Val)
n.586C>T
c.410C>T (p.Ala137Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.6289073G>ACA282588WFS1c.402G>A (p.Ala134=)
c.392G>A
c.153G>A (p.Ala51=)
c.201G>A (p.Ala67=)
c.276G>A (p.Ala92=)
n.587G>A
c.411G>A (p.Ala137=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6289073G>CCA438210819WFS1c.402G>C (p.Ala134=)
c.392G>C
c.153G>C (p.Ala51=)
c.201G>C (p.Ala67=)
c.276G>C (p.Ala92=)
n.587G>C
c.411G>C (p.Ala137=)
4g.6289073G=CA1435766790WFS1c.402G= (p.Ala134=)
c.392G=
c.153G= (p.Ala51=)
c.201G= (p.Ala67=)
c.276G= (p.Ala92=)
n.587G=
c.411G= (p.Ala137=)
4g.6289073G>TCA438210820WFS1c.402G>T (p.Ala134=)
c.392G>T
c.153G>T (p.Ala51=)
c.201G>T (p.Ala67=)
c.276G>T (p.Ala92=)
n.587G>T
c.411G>T (p.Ala137=)
gnomAD v4
4g.6289074A>CCA356171587WFS1c.403A>C (p.Lys135Gln)
c.393A>C
c.154A>C (p.Lys52Gln)
c.202A>C (p.Lys68Gln)
c.277A>C (p.Lys93Gln)
n.588A>C
c.412A>C (p.Lys138Gln)
4g.6289074A>GCA356171589WFS1c.403A>G (p.Lys135Glu)
c.393A>G
c.154A>G (p.Lys52Glu)
c.202A>G (p.Lys68Glu)
c.277A>G (p.Lys93Glu)
n.588A>G
c.412A>G (p.Lys138Glu)
4g.6289074A>TCA356171590WFS1c.403A>T (p.Lys135Ter)
c.393A>T
c.154A>T (p.Lys52Ter)
c.202A>T (p.Lys68Ter)
c.277A>T (p.Lys93Ter)
n.588A>T
c.412A>T (p.Lys138Ter)
4g.6289075A=CA1435766798WFS1c.404A= (p.Lys135=)
c.394A=
c.155A= (p.Lys52=)
c.203A= (p.Lys68=)
c.278A= (p.Lys93=)
c.1A=
n.589A=
c.413A= (p.Lys138=)
4g.6289075A>CCA356171592WFS1c.404A>C (p.Lys135Thr)
c.394A>C
c.155A>C (p.Lys52Thr)
c.203A>C (p.Lys68Thr)
c.278A>C (p.Lys93Thr)
c.1A>C
n.589A>C
c.413A>C (p.Lys138Thr)
4g.6289075A>GCA356171594WFS1c.404A>G (p.Lys135Arg)
c.394A>G
c.155A>G (p.Lys52Arg)
c.203A>G (p.Lys68Arg)
c.278A>G (p.Lys93Arg)
c.1A>G
n.589A>G
c.413A>G (p.Lys138Arg)
4g.6289075A>TCA91794312WFS1c.404A>T (p.Lys135Met)
c.394A>T
c.155A>T (p.Lys52Met)
c.203A>T (p.Lys68Met)
c.278A>T (p.Lys93Met)
c.1A>T
n.589A>T
c.413A>T (p.Lys138Met)
dbSNP gnomAD v4
4g.6289076G>ACA438210825WFS1c.405G>A (p.Lys135=)
c.395G>A
c.156G>A (p.Lys52=)
c.204G>A (p.Lys68=)
c.279G>A (p.Lys93=)
c.2G>A
n.590G>A
c.414G>A (p.Lys138=)
4g.6289076G>CCA356171597WFS1c.405G>C (p.Lys135Asn)
c.395G>C
c.156G>C (p.Lys52Asn)
c.204G>C (p.Lys68Asn)
c.279G>C (p.Lys93Asn)
c.2G>C
n.590G>C
c.414G>C (p.Lys138Asn)
4g.6289076G=CA1435766805WFS1c.405G= (p.Lys135=)
c.395G=
c.156G= (p.Lys52=)
c.204G= (p.Lys68=)
c.279G= (p.Lys93=)
c.2G=
n.590G=
c.414G= (p.Lys138=)
4g.6289076G>TCA356171599WFS1c.405G>T (p.Lys135Asn)
c.395G>T
c.156G>T (p.Lys52Asn)
c.204G>T (p.Lys68Asn)
c.279G>T (p.Lys93Asn)
c.2G>T
n.590G>T
c.414G>T (p.Lys138Asn)
dbSNP gnomAD v2
4g.6289077C>ACA356171601WFS1c.406C>A (p.Gln136Lys)
c.396C>A
c.157C>A (p.Gln53Lys)
c.205C>A (p.Gln69Lys)
c.280C>A (p.Gln94Lys)
c.3C>A
n.591C>A
c.415C>A (p.Gln139Lys)
4g.6289077C>GCA356171604WFS1c.406C>G (p.Gln136Glu)
c.396C>G
c.157C>G (p.Gln53Glu)
c.205C>G (p.Gln69Glu)
c.280C>G (p.Gln94Glu)
c.3C>G
n.591C>G
c.415C>G (p.Gln139Glu)
4g.6289077C>TCA356171606WFS1c.406C>T (p.Gln136Ter)
c.396C>T
c.157C>T (p.Gln53Ter)
c.205C>T (p.Gln69Ter)
c.280C>T (p.Gln94Ter)
c.3C>T
n.591C>T
c.415C>T (p.Gln139Ter)
4g.6289078A=CA1435766808WFS1c.407A= (p.Gln136=)
c.397A=
c.158A= (p.Gln53=)
c.206A= (p.Gln69=)
c.281A= (p.Gln94=)
c.4A=
n.592A=
c.416A= (p.Gln139=)
4g.6289078A>CCA356171608WFS1c.407A>C (p.Gln136Pro)
c.397A>C
c.158A>C (p.Gln53Pro)
c.206A>C (p.Gln69Pro)
c.281A>C (p.Gln94Pro)
c.4A>C
n.592A>C
c.416A>C (p.Gln139Pro)
4g.6289078A>GCA356171610WFS1c.407A>G (p.Gln136Arg)
c.397A>G
c.158A>G (p.Gln53Arg)
c.206A>G (p.Gln69Arg)
c.281A>G (p.Gln94Arg)
c.4A>G
n.592A>G
c.416A>G (p.Gln139Arg)
4g.6289078A>TCA356171611WFS1c.407A>T (p.Gln136Leu)
c.397A>T
c.158A>T (p.Gln53Leu)
c.206A>T (p.Gln69Leu)
c.281A>T (p.Gln94Leu)
c.4A>T
n.592A>T
c.416A>T (p.Gln139Leu)
4g.6289079G>ACA438210833WFS1c.408G>A (p.Gln136=)
c.398G>A
c.159G>A (p.Gln53=)
c.207G>A (p.Gln69=)
c.282G>A (p.Gln94=)
c.5G>A
n.593G>A
c.417G>A (p.Gln139=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6289079G>CCA356171617WFS1c.408G>C (p.Gln136His)
c.398G>C
c.159G>C (p.Gln53His)
c.207G>C (p.Gln69His)
c.282G>C (p.Gln94His)
c.5G>C
n.593G>C
c.417G>C (p.Gln139His)
4g.6289079G=CA1435766818WFS1c.408G= (p.Gln136=)
c.398G=
c.159G= (p.Gln53=)
c.207G= (p.Gln69=)
c.282G= (p.Gln94=)
c.5G=
n.593G=
c.417G= (p.Gln139=)
4g.6289079G>TCA356171618WFS1c.408G>T (p.Gln136His)
c.398G>T
c.159G>T (p.Gln53His)
c.207G>T (p.Gln69His)
c.282G>T (p.Gln94His)
c.5G>T
n.593G>T
c.417G>T (p.Gln139His)
4g.6289080_6289095dupCA253196WFS1c.409_424dup (p.Val142GlyfsTer?)
c.399_414dup
c.409_424dup (p.Val142GlyfsTer35)
c.160_175dup (p.Val59GlyfsTer?)
c.208_223dup (p.Val75GlyfsTer?)
c.283_298dup (p.Val100GlyfsTer?)
c.6_21dup
n.594_609dup
c.418_433dup (p.Val145GlyfsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6289080G>ACA356171621WFS1c.409G>A (p.Gly137Ser)
c.399G>A
c.160G>A (p.Gly54Ser)
c.208G>A (p.Gly70Ser)
c.283G>A (p.Gly95Ser)
c.6G>A
n.594G>A
c.418G>A (p.Gly140Ser)
4g.6289080G>CCA356171623WFS1c.409G>C (p.Gly137Arg)
c.399G>C
c.160G>C (p.Gly54Arg)
c.208G>C (p.Gly70Arg)
c.283G>C (p.Gly95Arg)
c.6G>C
n.594G>C
c.418G>C (p.Gly140Arg)
4g.6289080G>TCA356171624WFS1c.409G>T (p.Gly137Cys)
c.399G>T
c.160G>T (p.Gly54Cys)
c.208G>T (p.Gly70Cys)
c.283G>T (p.Gly95Cys)
c.6G>T
n.594G>T
c.418G>T (p.Gly140Cys)
4g.6289081G>ACA356171631WFS1c.410G>A (p.Gly137Asp)
c.400G>A
c.161G>A (p.Gly54Asp)
c.209G>A (p.Gly70Asp)
c.284G>A (p.Gly95Asp)
c.7G>A
n.595G>A
c.419G>A (p.Gly140Asp)
4g.6289081G>CCA356171627WFS1c.410G>C (p.Gly137Ala)
c.400G>C
c.161G>C (p.Gly54Ala)
c.209G>C (p.Gly70Ala)
c.284G>C (p.Gly95Ala)
c.7G>C
n.595G>C
c.419G>C (p.Gly140Ala)
4g.6289081G>TCA356171629WFS1c.410G>T (p.Gly137Val)
c.400G>T
c.161G>T (p.Gly54Val)
c.209G>T (p.Gly70Val)
c.284G>T (p.Gly95Val)
c.7G>T
n.595G>T
c.419G>T (p.Gly140Val)
4g.6289081_6289082delinsGCCA1435766822WFS1c.410_411delinsGC (p.Gly137=)
c.400_401delinsGC
c.161_162delinsGC (p.Gly54=)
c.209_210delinsGC (p.Gly70=)
c.284_285delinsGC (p.Gly95=)
c.7_8delinsGC
n.595_596delinsGC
c.419_420delinsGC (p.Gly140=)
4g.6289082C>ACA438210836WFS1c.411C>A (p.Gly137=)
c.401C>A
c.162C>A (p.Gly54=)
c.210C>A (p.Gly70=)
c.285C>A (p.Gly95=)
c.8C>A
n.596C>A
c.420C>A (p.Gly140=)
gnomAD v4
4g.6289082C>GCA438210837WFS1c.411C>G (p.Gly137=)
c.401C>G
c.162C>G (p.Gly54=)
c.210C>G (p.Gly70=)
c.285C>G (p.Gly95=)
c.8C>G
n.596C>G
c.420C>G (p.Gly140=)
4g.6289082C>TCA438210838WFS1c.411C>T (p.Gly137=)
c.401C>T
c.162C>T (p.Gly54=)
c.210C>T (p.Gly70=)
c.285C>T (p.Gly95=)
c.8C>T
n.596C>T
c.420C>T (p.Gly140=)
4g.6289083delCA1435766824WFS1c.412del (p.Arg138ValfsTer5)
c.402del
c.163del (p.Arg55ValfsTer5)
c.211del (p.Arg71ValfsTer5)
c.286del (p.Arg96ValfsTer5)
c.9del
n.597del
c.421del (p.Arg141ValfsTer5)
dbSNP
4g.6289083C>ACA356171633WFS1c.412C>A (p.Arg138Ser)
c.402C>A
c.163C>A (p.Arg55Ser)
c.211C>A (p.Arg71Ser)
c.286C>A (p.Arg96Ser)
c.9C>A
n.597C>A
c.421C>A (p.Arg141Ser)
4g.6289083C=CA1435766828WFS1c.412C= (p.Arg138=)
c.402C=
c.163C= (p.Arg55=)
c.211C= (p.Arg71=)
c.286C= (p.Arg96=)
c.9C=
n.597C=
c.421C= (p.Arg141=)
4g.6289083C>GCA356171635WFS1c.412C>G (p.Arg138Gly)
c.402C>G
c.163C>G (p.Arg55Gly)
c.211C>G (p.Arg71Gly)
c.286C>G (p.Arg96Gly)
c.9C>G
n.597C>G
c.421C>G (p.Arg141Gly)
dbSNP gnomAD v2 gnomAD v4
4g.6289083C>TCA2838886WFS1c.412C>T (p.Arg138Cys)
c.402C>T
c.163C>T (p.Arg55Cys)
c.211C>T (p.Arg71Cys)
c.286C>T (p.Arg96Cys)
c.9C>T
n.597C>T
c.421C>T (p.Arg141Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6289084G>ACA2838887WFS1c.413G>A (p.Arg138His)
c.403G>A
c.164G>A (p.Arg55His)
c.212G>A (p.Arg71His)
c.287G>A (p.Arg96His)
c.10G>A
n.598G>A
c.422G>A (p.Arg141His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6289084G>CCA356171638WFS1c.413G>C (p.Arg138Pro)
c.403G>C
c.164G>C (p.Arg55Pro)
c.212G>C (p.Arg71Pro)
c.287G>C (p.Arg96Pro)
c.10G>C
n.598G>C
c.422G>C (p.Arg141Pro)
4g.6289084G=CA1435766831WFS1c.413G= (p.Arg138=)
c.403G=
c.164G= (p.Arg55=)
c.212G= (p.Arg71=)
c.287G= (p.Arg96=)
c.10G=
n.598G=
c.422G= (p.Arg141=)
4g.6289084G>TCA356171640WFS1c.413G>T (p.Arg138Leu)
c.403G>T
c.164G>T (p.Arg55Leu)
c.212G>T (p.Arg71Leu)
c.287G>T (p.Arg96Leu)
c.10G>T
n.598G>T
c.422G>T (p.Arg141Leu)
gnomAD v4 COSMIC
4g.6289085T>ACA438210840WFS1c.414T>A (p.Arg138=)
c.404T>A
c.165T>A (p.Arg55=)
c.213T>A (p.Arg71=)
c.288T>A (p.Arg96=)
c.11T>A
n.599T>A
c.423T>A (p.Arg141=)
4g.6289085T>CCA438210841WFS1c.414T>C (p.Arg138=)
c.404T>C
c.165T>C (p.Arg55=)
c.213T>C (p.Arg71=)
c.288T>C (p.Arg96=)
c.11T>C
n.599T>C
c.423T>C (p.Arg141=)
4g.6289085T>GCA438210842WFS1c.414T>G (p.Arg138=)
c.404T>G
c.165T>G (p.Arg55=)
c.213T>G (p.Arg71=)
c.288T>G (p.Arg96=)
c.11T>G
n.599T>G
c.423T>G (p.Arg141=)
4g.6289086C>ACA356171642WFS1c.415C>A (p.Arg139Ser)
c.405C>A
c.166C>A (p.Arg56Ser)
c.214C>A (p.Arg72Ser)
c.289C>A (p.Arg97Ser)
c.12C>A
n.600C>A
c.424C>A (p.Arg142Ser)
4g.6289086C=CA1435766837WFS1c.415C= (p.Arg139=)
c.405C=
c.166C= (p.Arg56=)
c.214C= (p.Arg72=)
c.289C= (p.Arg97=)
c.12C=
n.600C=
c.424C= (p.Arg142=)
4g.6289086C>GCA356171644WFS1c.415C>G (p.Arg139Gly)
c.405C>G
c.166C>G (p.Arg56Gly)
c.214C>G (p.Arg72Gly)
c.289C>G (p.Arg97Gly)
c.12C>G
n.600C>G
c.424C>G (p.Arg142Gly)
4g.6289086C>TCA356171646WFS1c.415C>T (p.Arg139Cys)
c.405C>T
c.166C>T (p.Arg56Cys)
c.214C>T (p.Arg72Cys)
c.289C>T (p.Arg97Cys)
c.12C>T
n.600C>T
c.424C>T (p.Arg142Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6289087G>ACA2838888WFS1c.416G>A (p.Arg139His)
c.406G>A
c.167G>A (p.Arg56His)
c.215G>A (p.Arg72His)
c.290G>A (p.Arg97His)
c.13G>A
n.601G>A
c.425G>A (p.Arg142His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6289087G>CCA356171649WFS1c.416G>C (p.Arg139Pro)
c.406G>C
c.167G>C (p.Arg56Pro)
c.215G>C (p.Arg72Pro)
c.290G>C (p.Arg97Pro)
c.13G>C
n.601G>C
c.425G>C (p.Arg142Pro)
4g.6289087G=CA1435766838WFS1c.416G= (p.Arg139=)
c.406G=
c.167G= (p.Arg56=)
c.215G= (p.Arg72=)
c.290G= (p.Arg97=)
c.13G=
n.601G=
c.425G= (p.Arg142=)
4g.6289087G>TCA356171651WFS1c.416G>T (p.Arg139Leu)
c.406G>T
c.167G>T (p.Arg56Leu)
c.215G>T (p.Arg72Leu)
c.290G>T (p.Arg97Leu)
c.13G>T
n.601G>T
c.425G>T (p.Arg142Leu)
gnomAD v4
4g.6289088C>ACA438210844WFS1c.417C>A (p.Arg139=)
c.407C>A
c.168C>A (p.Arg56=)
c.216C>A (p.Arg72=)
c.291C>A (p.Arg97=)
c.14C>A
n.602C>A
c.426C>A (p.Arg142=)
4g.6289088C=CA1435766845WFS1c.417C= (p.Arg139=)
c.407C=
c.168C= (p.Arg56=)
c.216C= (p.Arg72=)
c.291C= (p.Arg97=)
c.14C=
n.602C=
c.426C= (p.Arg142=)
4g.6289088C>GCA2838889WFS1c.417C>G (p.Arg139=)
c.407C>G
c.168C>G (p.Arg56=)
c.216C>G (p.Arg72=)
c.291C>G (p.Arg97=)
c.14C>G
n.602C>G
c.426C>G (p.Arg142=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6289088C>TCA2838890WFS1c.417C>T (p.Arg139=)
c.407C>T
c.168C>T (p.Arg56=)
c.216C>T (p.Arg72=)
c.291C>T (p.Arg97=)
c.14C>T
n.602C>T
c.426C>T (p.Arg142=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6289089G>ACA91794313WFS1c.418G>A (p.Glu140Lys)
c.408G>A
c.169G>A (p.Glu57Lys)
c.217G>A (p.Glu73Lys)
c.292G>A (p.Glu98Lys)
c.15G>A
n.603G>A
c.427G>A (p.Glu143Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6289089G>CCA356171658WFS1c.418G>C (p.Glu140Gln)
c.408G>C
c.169G>C (p.Glu57Gln)
c.217G>C (p.Glu73Gln)
c.292G>C (p.Glu98Gln)
c.15G>C
n.603G>C
c.427G>C (p.Glu143Gln)
4g.6289089G=CA1435766858WFS1c.418G= (p.Glu140=)
c.408G=
c.169G= (p.Glu57=)
c.217G= (p.Glu73=)
c.292G= (p.Glu98=)
c.15G=
n.603G=
c.427G= (p.Glu143=)
4g.6289089G>TCA356171656WFS1c.418G>T (p.Glu140Ter)
c.408G>T
c.169G>T (p.Glu57Ter)
c.217G>T (p.Glu73Ter)
c.292G>T (p.Glu98Ter)
c.15G>T
n.603G>T
c.427G>T (p.Glu143Ter)
4g.6289090A=CA1435766861WFS1c.419A= (p.Glu140=)
c.409A=
c.170A= (p.Glu57=)
c.218A= (p.Glu73=)
c.293A= (p.Glu98=)
c.16A=
n.604A=
c.428A= (p.Glu143=)
4g.6289090A>CCA356171660WFS1c.419A>C (p.Glu140Ala)
c.409A>C
c.170A>C (p.Glu57Ala)
c.218A>C (p.Glu73Ala)
c.293A>C (p.Glu98Ala)
c.16A>C
n.604A>C
c.428A>C (p.Glu143Ala)
4g.6289090A>GCA356171662WFS1c.419A>G (p.Glu140Gly)
c.409A>G
c.170A>G (p.Glu57Gly)
c.218A>G (p.Glu73Gly)
c.293A>G (p.Glu98Gly)
c.16A>G
n.604A>G
c.428A>G (p.Glu143Gly)
4g.6289090A>TCA356171664WFS1c.419A>T (p.Glu140Val)
c.409A>T
c.170A>T (p.Glu57Val)
c.218A>T (p.Glu73Val)
c.293A>T (p.Glu98Val)
c.16A>T
n.604A>T
c.428A>T (p.Glu143Val)
dbSNP
4g.6289091G>ACA438210845WFS1c.420G>A (p.Glu140=)
c.410G>A
c.171G>A (p.Glu57=)
c.219G>A (p.Glu73=)
c.294G>A (p.Glu98=)
c.17G>A
n.605G>A
c.429G>A (p.Glu143=)
4g.6289091G>CCA356171665WFS1c.420G>C (p.Glu140Asp)
c.410G>C
c.171G>C (p.Glu57Asp)
c.219G>C (p.Glu73Asp)
c.294G>C (p.Glu98Asp)
c.17G>C
n.605G>C
c.429G>C (p.Glu143Asp)
4g.6289091G>TCA356171666WFS1c.420G>T (p.Glu140Asp)
c.410G>T
c.171G>T (p.Glu57Asp)
c.219G>T (p.Glu73Asp)
c.294G>T (p.Glu98Asp)
c.17G>T
n.605G>T
c.429G>T (p.Glu143Asp)
4g.6289092G>ACA356171673WFS1c.421G>A (p.Ala141Thr)
c.411G>A
c.172G>A (p.Ala58Thr)
c.220G>A (p.Ala74Thr)
c.295G>A (p.Ala99Thr)
c.18G>A
n.606G>A
c.430G>A (p.Ala144Thr)
4g.6289092G>CCA356171671WFS1c.421G>C (p.Ala141Pro)
c.411G>C
c.172G>C (p.Ala58Pro)
c.220G>C (p.Ala74Pro)
c.295G>C (p.Ala99Pro)
c.18G>C
n.606G>C
c.430G>C (p.Ala144Pro)
4g.6289092G>TCA356171669WFS1c.421G>T (p.Ala141Ser)
c.411G>T
c.172G>T (p.Ala58Ser)
c.220G>T (p.Ala74Ser)
c.295G>T (p.Ala99Ser)
c.18G>T
n.606G>T
c.430G>T (p.Ala144Ser)
gnomAD v4
4g.6289093C>ACA356171675WFS1c.422C>A (p.Ala141Asp)
c.412C>A
c.173C>A (p.Ala58Asp)
c.221C>A (p.Ala74Asp)
c.296C>A (p.Ala99Asp)
c.19C>A
n.607C>A
c.431C>A (p.Ala144Asp)
gnomAD v4
4g.6289093C>GCA356171677WFS1c.422C>G (p.Ala141Gly)
c.412C>G
c.173C>G (p.Ala58Gly)
c.221C>G (p.Ala74Gly)
c.296C>G (p.Ala99Gly)
c.19C>G
n.607C>G
c.431C>G (p.Ala144Gly)
4g.6289093C>TCA356171678WFS1c.422C>T (p.Ala141Val)
c.412C>T
c.173C>T (p.Ala58Val)
c.221C>T (p.Ala74Val)
c.296C>T (p.Ala99Val)
c.19C>T
n.607C>T
c.431C>T (p.Ala144Val)
4g.6289094T>ACA438210847WFS1c.423T>A (p.Ala141=)
c.413T>A
c.174T>A (p.Ala58=)
c.222T>A (p.Ala74=)
c.297T>A (p.Ala99=)
c.20T>A
n.608T>A
c.432T>A (p.Ala144=)
4g.6289094T>CCA438210848WFS1c.423T>C (p.Ala141=)
c.413T>C
c.174T>C (p.Ala58=)
c.222T>C (p.Ala74=)
c.297T>C (p.Ala99=)
c.20T>C
n.608T>C
c.432T>C (p.Ala144=)
gnomAD v4
4g.6289094T>GCA438210849WFS1c.423T>G (p.Ala141=)
c.413T>G
c.174T>G (p.Ala58=)
c.222T>G (p.Ala74=)
c.297T>G (p.Ala99=)
c.20T>G
n.608T>G
c.432T>G (p.Ala144=)
4g.6289095delCA2760285118WFS1c.424del (p.Val142Ter)
c.414del
c.175del (p.Val59Ter)
c.223del (p.Val75Ter)
c.298del (p.Val100Ter)
c.21del
n.609del
c.433del (p.Val145Ter)
4g.6289095G>ACA356171680WFS1c.424G>A (p.Val142Met)
c.414G>A
c.175G>A (p.Val59Met)
c.223G>A (p.Val75Met)
c.298G>A (p.Val100Met)
c.21G>A
n.609G>A
c.433G>A (p.Val145Met)
dbSNP gnomAD v2 gnomAD v4
4g.6289095G>CCA91794314WFS1c.424G>C (p.Val142Leu)
c.414G>C
c.175G>C (p.Val59Leu)
c.223G>C (p.Val75Leu)
c.298G>C (p.Val100Leu)
c.21G>C
n.609G>C
c.433G>C (p.Val145Leu)
dbSNP gnomAD v4
4g.6289095G=CA1435766864WFS1c.424G= (p.Val142=)
c.414G=
c.175G= (p.Val59=)
c.223G= (p.Val75=)
c.298G= (p.Val100=)
c.21G=
n.609G=
c.433G= (p.Val145=)
4g.6289095G>TCA2838891WFS1c.424G>T (p.Val142Leu)
c.414G>T
c.175G>T (p.Val59Leu)
c.223G>T (p.Val75Leu)
c.298G>T (p.Val100Leu)
c.21G>T
n.609G>T
c.433G>T (p.Val145Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6289096T>ACA356171684WFS1c.425T>A (p.Val142Glu)
c.415T>A
c.176T>A (p.Val59Glu)
c.224T>A (p.Val75Glu)
c.299T>A (p.Val100Glu)
c.22T>A
n.610T>A
c.434T>A (p.Val145Glu)
gnomAD v4
4g.6289096T>CCA356171688WFS1c.425T>C (p.Val142Ala)
c.415T>C
c.176T>C (p.Val59Ala)
c.224T>C (p.Val75Ala)
c.299T>C (p.Val100Ala)
c.22T>C
n.610T>C
c.434T>C (p.Val145Ala)
dbSNP
4g.6289096T>GCA356171686WFS1c.425T>G (p.Val142Gly)
c.415T>G
c.176T>G (p.Val59Gly)
c.224T>G (p.Val75Gly)
c.299T>G (p.Val100Gly)
c.22T>G
n.610T>G
c.434T>G (p.Val145Gly)
4g.6289096T=CA1435766868WFS1c.425T= (p.Val142=)
c.415T=
c.176T= (p.Val59=)
c.224T= (p.Val75=)
c.299T= (p.Val100=)
c.22T=
n.610T=
c.434T= (p.Val145=)
4g.6289097G>ACA438210851WFS1c.426G>A (p.Val142=)
c.416G>A
c.177G>A (p.Val59=)
c.225G>A (p.Val75=)
c.300G>A (p.Val100=)
c.23G>A
n.611G>A
c.435G>A (p.Val145=)
gnomAD v4
4g.6289097G>CCA438210852WFS1c.426G>C (p.Val142=)
c.416G>C
c.177G>C (p.Val59=)
c.225G>C (p.Val75=)
c.300G>C (p.Val100=)
c.23G>C
n.611G>C
c.435G>C (p.Val145=)
4g.6289097G>TCA438210853WFS1c.426G>T (p.Val142=)
c.416G>T
c.177G>T (p.Val59=)
c.225G>T (p.Val75=)
c.300G>T (p.Val100=)
c.23G>T
n.611G>T
c.435G>T (p.Val145=)
gnomAD v4
4g.6289098A>CCA356171690WFS1c.427A>C (p.Lys143Gln)
c.417A>C
c.178A>C (p.Lys60Gln)
c.226A>C (p.Lys76Gln)
c.301A>C (p.Lys101Gln)
c.24A>C
n.612A>C
c.436A>C (p.Lys146Gln)
gnomAD v4
4g.6289098A>GCA356171692WFS1c.427A>G (p.Lys143Glu)
c.417A>G
c.178A>G (p.Lys60Glu)
c.226A>G (p.Lys76Glu)
c.301A>G (p.Lys101Glu)
c.24A>G
n.612A>G
c.436A>G (p.Lys146Glu)
ClinVar gnomAD v4
4g.6289098A>TCA356171694WFS1c.427A>T (p.Lys143Ter)
c.417A>T
c.178A>T (p.Lys60Ter)
c.226A>T (p.Lys76Ter)
c.301A>T (p.Lys101Ter)
c.24A>T
n.612A>T
c.436A>T (p.Lys146Ter)
4g.6289099A>CCA356171697WFS1c.428A>C (p.Lys143Thr)
c.418A>C
c.179A>C (p.Lys60Thr)
c.227A>C (p.Lys76Thr)
c.302A>C (p.Lys101Thr)
c.25A>C
n.613A>C
c.437A>C (p.Lys146Thr)
4g.6289099A>GCA356171699WFS1c.428A>G (p.Lys143Arg)
c.418A>G
c.179A>G (p.Lys60Arg)
c.227A>G (p.Lys76Arg)
c.302A>G (p.Lys101Arg)
c.25A>G
n.613A>G
c.437A>G (p.Lys146Arg)
gnomAD v4
4g.6289099A>TCA356171700WFS1c.428A>T (p.Lys143Met)
c.418A>T
c.179A>T (p.Lys60Met)
c.227A>T (p.Lys76Met)
c.302A>T (p.Lys101Met)
c.25A>T
n.613A>T
c.437A>T (p.Lys146Met)
4g.6289100G>ACA438210856WFS1c.429G>A (p.Lys143=)
c.419G>A
c.180G>A (p.Lys60=)
c.228G>A (p.Lys76=)
c.303G>A (p.Lys101=)
c.26G>A
n.614G>A
c.438G>A (p.Lys146=)
gnomAD v4
4g.6289100G>CCA356171703WFS1c.429G>C (p.Lys143Asn)
c.419G>C
c.180G>C (p.Lys60Asn)
c.228G>C (p.Lys76Asn)
c.303G>C (p.Lys101Asn)
c.26G>C
n.614G>C
c.438G>C (p.Lys146Asn)
4g.6289100G>TCA356171705WFS1c.429G>T (p.Lys143Asn)
c.419G>T
c.180G>T (p.Lys60Asn)
c.228G>T (p.Lys76Asn)
c.303G>T (p.Lys101Asn)
c.26G>T
n.614G>T
c.438G>T (p.Lys146Asn)
4g.6289101C>ACA356171707WFS1c.430C>A (p.Leu144Met)
c.420C>A
c.181C>A (p.Leu61Met)
c.229C>A (p.Leu77Met)
c.304C>A (p.Leu102Met)
c.27C>A
n.615C>A
c.439C>A (p.Leu147Met)
gnomAD v4
4g.6289101C>GCA356171709WFS1c.430C>G (p.Leu144Val)
c.420C>G
c.181C>G (p.Leu61Val)
c.229C>G (p.Leu77Val)
c.304C>G (p.Leu102Val)
c.27C>G
n.615C>G
c.439C>G (p.Leu147Val)
gnomAD v4
4g.6289101C>TCA438210857WFS1c.430C>T (p.Leu144=)
c.420C>T
c.181C>T (p.Leu61=)
c.229C>T (p.Leu77=)
c.304C>T (p.Leu102=)
c.27C>T
n.615C>T
c.439C>T (p.Leu147=)
gnomAD v4
4g.6289102T>ACA356171715WFS1c.431T>A (p.Leu144Gln)
c.421T>A
c.182T>A (p.Leu61Gln)
c.230T>A (p.Leu77Gln)
c.305T>A (p.Leu102Gln)
c.28T>A
n.616T>A
c.440T>A (p.Leu147Gln)
4g.6289102T>CCA356171713WFS1c.431T>C (p.Leu144Pro)
c.421T>C
c.182T>C (p.Leu61Pro)
c.230T>C (p.Leu77Pro)
c.305T>C (p.Leu102Pro)
c.28T>C
n.616T>C
c.440T>C (p.Leu147Pro)
4g.6289102T>GCA356171711WFS1c.431T>G (p.Leu144Arg)
c.421T>G
c.182T>G (p.Leu61Arg)
c.230T>G (p.Leu77Arg)
c.305T>G (p.Leu102Arg)
c.28T>G
n.616T>G
c.440T>G (p.Leu147Arg)
4g.6289103G>ACA91794315WFS1c.432G>A (p.Leu144=)
c.422G>A
c.183G>A (p.Leu61=)
c.231G>A (p.Leu77=)
c.306G>A (p.Leu102=)
c.29G>A
n.617G>A
c.441G>A (p.Leu147=)
dbSNP gnomAD v4
4g.6289103G>CCA438210858WFS1c.432G>C (p.Leu144=)
c.422G>C
c.183G>C (p.Leu61=)
c.231G>C (p.Leu77=)
c.306G>C (p.Leu102=)
c.29G>C
n.617G>C
c.441G>C (p.Leu147=)
4g.6289103G=CA1435766872WFS1c.432G= (p.Leu144=)
c.422G=
c.183G= (p.Leu61=)
c.231G= (p.Leu77=)
c.306G= (p.Leu102=)
c.29G=
n.617G=
c.441G= (p.Leu147=)
4g.6289103G>TCA438210859WFS1c.432G>T (p.Leu144=)
c.422G>T
c.183G>T (p.Leu61=)
c.231G>T (p.Leu77=)
c.306G>T (p.Leu102=)
c.29G>T
n.617G>T
c.441G>T (p.Leu147=)
gnomAD v4
4g.6289104C>ACA356171718WFS1c.433C>A (p.Leu145Ile)
c.423C>A
c.184C>A (p.Leu62Ile)
c.232C>A (p.Leu78Ile)
c.307C>A (p.Leu103Ile)
c.30C>A
n.618C>A
c.442C>A (p.Leu148Ile)
gnomAD v4
4g.6289104C=CA1435766878WFS1c.433C= (p.Leu145=)
c.423C=
c.184C= (p.Leu62=)
c.232C= (p.Leu78=)
c.307C= (p.Leu103=)
c.30C=
n.618C=
c.442C= (p.Leu148=)
4g.6289104C>GCA356171720WFS1c.433C>G (p.Leu145Val)
c.423C>G
c.184C>G (p.Leu62Val)
c.232C>G (p.Leu78Val)
c.307C>G (p.Leu103Val)
c.30C>G
n.618C>G
c.442C>G (p.Leu148Val)
4g.6289104C>TCA356171721WFS1c.433C>T (p.Leu145Phe)
c.423C>T
c.184C>T (p.Leu62Phe)
c.232C>T (p.Leu78Phe)
c.307C>T (p.Leu103Phe)
c.30C>T
n.618C>T
c.442C>T (p.Leu148Phe)
dbSNP gnomAD v2
4g.6289105T>ACA356171724WFS1c.434T>A (p.Leu145His)
c.424T>A
c.185T>A (p.Leu62His)
c.233T>A (p.Leu78His)
c.308T>A (p.Leu103His)
c.31T>A
n.619T>A
c.443T>A (p.Leu148His)
4g.6289105T>CCA356171726WFS1c.434T>C (p.Leu145Pro)
c.424T>C
c.185T>C (p.Leu62Pro)
c.233T>C (p.Leu78Pro)
c.308T>C (p.Leu103Pro)
c.31T>C
n.619T>C
c.443T>C (p.Leu148Pro)
4g.6289105T>GCA356171728WFS1c.434T>G (p.Leu145Arg)
c.424T>G
c.185T>G (p.Leu62Arg)
c.233T>G (p.Leu78Arg)
c.308T>G (p.Leu103Arg)
c.31T>G
n.619T>G
c.443T>G (p.Leu148Arg)
4g.6289106T>ACA438210863WFS1c.435T>A (p.Leu145=)
c.425T>A
c.186T>A (p.Leu62=)
c.234T>A (p.Leu78=)
c.309T>A (p.Leu103=)
c.32T>A
n.620T>A
c.444T>A (p.Leu148=)
4g.6289106T>CCA438210864WFS1c.435T>C (p.Leu145=)
c.425T>C
c.186T>C (p.Leu62=)
c.234T>C (p.Leu78=)
c.309T>C (p.Leu103=)
c.32T>C
n.620T>C
c.444T>C (p.Leu148=)
4g.6289106T>GCA438210865WFS1c.435T>G (p.Leu145=)
c.425T>G
c.186T>G (p.Leu62=)
c.234T>G (p.Leu78=)
c.309T>G (p.Leu103=)
c.32T>G
n.620T>G
c.444T>G (p.Leu148=)
4g.6289107C>ACA356171730WFS1c.436C>A (p.Arg146Ser)
c.426C>A
c.187C>A (p.Arg63Ser)
c.235C>A (p.Arg79Ser)
c.310C>A (p.Arg104Ser)
c.33C>A
n.621C>A
c.445C>A (p.Arg149Ser)
gnomAD v4
4g.6289107C=CA1435766890WFS1c.436C= (p.Arg146=)
c.426C=
c.187C= (p.Arg63=)
c.235C= (p.Arg79=)
c.310C= (p.Arg104=)
c.33C=
n.621C=
c.445C= (p.Arg149=)
4g.6289107C>GCA356171732WFS1c.436C>G (p.Arg146Gly)
c.426C>G
c.187C>G (p.Arg63Gly)
c.235C>G (p.Arg79Gly)
c.310C>G (p.Arg104Gly)
c.33C>G
n.621C>G
c.445C>G (p.Arg149Gly)
gnomAD v4
4g.6289107C>TCA356171734WFS1c.436C>T (p.Arg146Cys)
c.426C>T
c.187C>T (p.Arg63Cys)
c.235C>T (p.Arg79Cys)
c.310C>T (p.Arg104Cys)
c.33C>T
n.621C>T
c.445C>T (p.Arg149Cys)
ClinVar dbSNP gnomAD v4 COSMIC
4g.6289108G>ACA2838892WFS1c.437G>A (p.Arg146His)
c.427G>A
c.188G>A (p.Arg63His)
c.236G>A (p.Arg79His)
c.311G>A (p.Arg104His)
c.34G>A
n.622G>A
c.446G>A (p.Arg149His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6289108G>CCA356171737WFS1c.437G>C (p.Arg146Pro)
c.427G>C
c.188G>C (p.Arg63Pro)
c.236G>C (p.Arg79Pro)
c.311G>C (p.Arg104Pro)
c.34G>C
n.622G>C
c.446G>C (p.Arg149Pro)
4g.6289108G=CA1435766894WFS1c.437G= (p.Arg146=)
c.427G=
c.188G= (p.Arg63=)
c.236G= (p.Arg79=)
c.311G= (p.Arg104=)
c.34G=
n.622G=
c.446G= (p.Arg149=)
4g.6289108G>TCA91794316WFS1c.437G>T (p.Arg146Leu)
c.427G>T
c.188G>T (p.Arg63Leu)
c.236G>T (p.Arg79Leu)
c.311G>T (p.Arg104Leu)
c.34G>T
n.622G>T
c.446G>T (p.Arg149Leu)
dbSNP gnomAD v4
4g.6289108_6289109delinsGCCA1435766899WFS1c.437_438delinsGC (p.Arg146=)
c.427_428delinsGC
c.188_189delinsGC (p.Arg63=)
c.236_237delinsGC (p.Arg79=)
c.311_312delinsGC (p.Arg104=)
c.34_35delinsGC
n.622_623delinsGC
c.446_447delinsGC (p.Arg149=)
4g.6289109C>ACA438210867WFS1c.438C>A (p.Arg146=)
c.428C>A
c.189C>A (p.Arg63=)
c.237C>A (p.Arg79=)
c.312C>A (p.Arg104=)
c.35C>A
n.623C>A
c.447C>A (p.Arg149=)
4g.6289109C>GCA438210868WFS1c.438C>G (p.Arg146=)
c.428C>G
c.189C>G (p.Arg63=)
c.237C>G (p.Arg79=)
c.312C>G (p.Arg104=)
c.35C>G
n.623C>G
c.447C>G (p.Arg149=)
gnomAD v4
4g.6289109C>TCA438210869WFS1c.438C>T (p.Arg146=)
c.428C>T
c.189C>T (p.Arg63=)
c.237C>T (p.Arg79=)
c.312C>T (p.Arg104=)
c.35C>T
n.623C>T
c.447C>T (p.Arg149=)
gnomAD v4
4g.6289110delCA913189921WFS1c.439del (p.Arg147GlyfsTer17)
c.429del
c.439del (p.Arg147GlyfsTer14)
c.190del (p.Arg64GlyfsTer17)
c.238del (p.Arg80GlyfsTer17)
c.313del (p.Arg105GlyfsTer17)
c.36del
n.624del
c.448del (p.Arg150GlyfsTer17)
ClinVar dbSNP gnomAD v4
4g.6289110C>ACA438210870WFS1c.439C>A (p.Arg147=)
c.429C>A
c.190C>A (p.Arg64=)
c.238C>A (p.Arg80=)
c.313C>A (p.Arg105=)
c.36C>A
n.624C>A
c.448C>A (p.Arg150=)
gnomAD v4
4g.6289110C=CA1435766908WFS1c.439C= (p.Arg147=)
c.429C=
c.190C= (p.Arg64=)
c.238C= (p.Arg80=)
c.313C= (p.Arg105=)
c.36C=
n.624C=
c.448C= (p.Arg150=)
4g.6289110C>GCA356171740WFS1c.439C>G (p.Arg147Gly)
c.429C>G
c.190C>G (p.Arg64Gly)
c.238C>G (p.Arg80Gly)
c.313C>G (p.Arg105Gly)
c.36C>G
n.624C>G
c.448C>G (p.Arg150Gly)
4g.6289110C>TCA2838893WFS1c.439C>T (p.Arg147Trp)
c.429C>T
c.190C>T (p.Arg64Trp)
c.238C>T (p.Arg80Trp)
c.313C>T (p.Arg105Trp)
c.36C>T
n.624C>T
c.448C>T (p.Arg150Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6289111G>ACA91794317WFS1c.440G>A (p.Arg147Gln)
c.430G>A
c.191G>A (p.Arg64Gln)
c.239G>A (p.Arg80Gln)
c.314G>A (p.Arg105Gln)
c.37G>A
n.625G>A
c.449G>A (p.Arg150Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6289111G>CCA356171743WFS1c.440G>C (p.Arg147Pro)
c.430G>C
c.191G>C (p.Arg64Pro)
c.239G>C (p.Arg80Pro)
c.314G>C (p.Arg105Pro)
c.37G>C
n.625G>C
c.449G>C (p.Arg150Pro)
dbSNP gnomAD v4
4g.6289111G=CA1435766910WFS1c.440G= (p.Arg147=)
c.430G=
c.191G= (p.Arg64=)
c.239G= (p.Arg80=)
c.314G= (p.Arg105=)
c.37G=
n.625G=
c.449G= (p.Arg150=)
4g.6289111G>TCA356171745WFS1c.440G>T (p.Arg147Leu)
c.430G>T
c.191G>T (p.Arg64Leu)
c.239G>T (p.Arg80Leu)
c.314G>T (p.Arg105Leu)
c.37G>T
n.625G>T
c.449G>T (p.Arg150Leu)
gnomAD v4
4g.6289112G>ACA438210872WFS1c.441G>A (p.Arg147=)
c.431G>A
c.192G>A (p.Arg64=)
c.240G>A (p.Arg80=)
c.315G>A (p.Arg105=)
c.38G>A
n.626G>A
c.450G>A (p.Arg150=)
dbSNP gnomAD v2 gnomAD v4
4g.6289112G>CCA91794318WFS1c.441G>C (p.Arg147=)
c.431G>C
c.192G>C (p.Arg64=)
c.240G>C (p.Arg80=)
c.315G>C (p.Arg105=)
c.38G>C
n.626G>C
c.450G>C (p.Arg150=)
dbSNP
4g.6289112G=CA1435766913WFS1c.441G= (p.Arg147=)
c.431G=
c.192G= (p.Arg64=)
c.240G= (p.Arg80=)
c.315G= (p.Arg105=)
c.38G=
n.626G=
c.450G= (p.Arg150=)
4g.6289112G>TCA438210873WFS1c.441G>T (p.Arg147=)
c.431G>T
c.192G>T (p.Arg64=)
c.240G>T (p.Arg80=)
c.315G>T (p.Arg105=)
c.38G>T
n.626G>T
c.450G>T (p.Arg150=)
4g.6289113T>ACA356171747WFS1c.442T>A (p.Cys148Ser)
c.432T>A
c.193T>A (p.Cys65Ser)
c.241T>A (p.Cys81Ser)
c.316T>A (p.Cys106Ser)
c.39T>A
n.627T>A
c.451T>A (p.Cys151Ser)
4g.6289113T>CCA356171749WFS1c.442T>C (p.Cys148Arg)
c.432T>C
c.193T>C (p.Cys65Arg)
c.241T>C (p.Cys81Arg)
c.316T>C (p.Cys106Arg)
c.39T>C
n.627T>C
c.451T>C (p.Cys151Arg)
4g.6289113T>GCA356171751WFS1c.442T>G (p.Cys148Gly)
c.432T>G
c.193T>G (p.Cys65Gly)
c.241T>G (p.Cys81Gly)
c.316T>G (p.Cys106Gly)
c.39T>G
n.627T>G
c.451T>G (p.Cys151Gly)
dbSNP
4g.6289113T=CA1435766919WFS1c.442T= (p.Cys148=)
c.432T=
c.193T= (p.Cys65=)
c.241T= (p.Cys81=)
c.316T= (p.Cys106=)
c.39T=
n.627T=
c.451T= (p.Cys151=)
4g.6289114G>ACA356171753WFS1c.443G>A (p.Cys148Tyr)
c.433G>A
c.194G>A (p.Cys65Tyr)
c.242G>A (p.Cys81Tyr)
c.317G>A (p.Cys106Tyr)
c.40G>A
n.628G>A
c.452G>A (p.Cys151Tyr)
dbSNP gnomAD v2 gnomAD v4
4g.6289114G>CCA356171755WFS1c.443G>C (p.Cys148Ser)
c.433G>C
c.194G>C (p.Cys65Ser)
c.242G>C (p.Cys81Ser)
c.317G>C (p.Cys106Ser)
c.40G>C
n.628G>C
c.452G>C (p.Cys151Ser)
dbSNP gnomAD v3 gnomAD v4
4g.6289114G=CA1435766921WFS1c.443G= (p.Cys148=)
c.433G=
c.194G= (p.Cys65=)
c.242G= (p.Cys81=)
c.317G= (p.Cys106=)
c.40G=
n.628G=
c.452G= (p.Cys151=)
4g.6289114G>TCA356171757WFS1c.443G>T (p.Cys148Phe)
c.433G>T
c.194G>T (p.Cys65Phe)
c.242G>T (p.Cys81Phe)
c.317G>T (p.Cys106Phe)
c.40G>T
n.628G>T
c.452G>T (p.Cys151Phe)
gnomAD v4
4g.6289115C>ACA356171760WFS1c.444C>A (p.Cys148Ter)
c.434C>A
c.195C>A (p.Cys65Ter)
c.243C>A (p.Cys81Ter)
c.318C>A (p.Cys106Ter)
c.41C>A
n.629C>A
c.453C>A (p.Cys151Ter)
gnomAD v4
4g.6289115C=CA1435766927WFS1c.444C= (p.Cys148=)
c.434C=
c.195C= (p.Cys65=)
c.243C= (p.Cys81=)
c.318C= (p.Cys106=)
c.41C=
n.629C=
c.453C= (p.Cys151=)
4g.6289115C>GCA356171762WFS1c.444C>G (p.Cys148Trp)
c.434C>G
c.195C>G (p.Cys65Trp)
c.243C>G (p.Cys81Trp)
c.318C>G (p.Cys106Trp)
c.41C>G
n.629C>G
c.453C>G (p.Cys151Trp)
4g.6289115C>TCA91794319WFS1c.444C>T (p.Cys148=)
c.434C>T
c.195C>T (p.Cys65=)
c.243C>T (p.Cys81=)
c.318C>T (p.Cys106=)
c.41C>T
n.629C>T
c.453C>T (p.Cys151=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6289116T>ACA356171763WFS1c.445T>A (p.Leu149Met)
c.435T>A
c.196T>A (p.Leu66Met)
c.244T>A (p.Leu82Met)
c.319T>A (p.Leu107Met)
c.42T>A
n.630T>A
c.454T>A (p.Leu152Met)
4g.6289116T>CCA438210874WFS1c.445T>C (p.Leu149=)
c.435T>C
c.196T>C (p.Leu66=)
c.244T>C (p.Leu82=)
c.319T>C (p.Leu107=)
c.42T>C
n.630T>C
c.454T>C (p.Leu152=)
ClinVar dbSNP gnomAD v4
4g.6289116T>GCA356171765WFS1c.445T>G (p.Leu149Val)
c.435T>G
c.196T>G (p.Leu66Val)
c.244T>G (p.Leu82Val)
c.319T>G (p.Leu107Val)
c.42T>G
n.630T>G
c.454T>G (p.Leu152Val)
gnomAD v4
4g.6289116T=CA1435766932WFS1c.445T= (p.Leu149=)
c.435T=
c.196T= (p.Leu66=)
c.244T= (p.Leu82=)
c.319T= (p.Leu107=)
c.42T=
n.630T=
c.454T= (p.Leu152=)
4g.6289117T>ACA356171768WFS1c.446T>A (p.Leu149Ter)
c.436T>A
c.197T>A (p.Leu66Ter)
c.245T>A (p.Leu82Ter)
c.320T>A (p.Leu107Ter)
c.43T>A
n.631T>A
c.455T>A (p.Leu152Ter)
4g.6289117T>CCA356171771WFS1c.446T>C (p.Leu149Ser)
c.436T>C
c.197T>C (p.Leu66Ser)
c.245T>C (p.Leu82Ser)
c.320T>C (p.Leu107Ser)
c.43T>C
n.631T>C
c.455T>C (p.Leu152Ser)
4g.6289117T>GCA356171769WFS1c.446T>G (p.Leu149Trp)
c.436T>G
c.197T>G (p.Leu66Trp)
c.245T>G (p.Leu82Trp)
c.320T>G (p.Leu107Trp)
c.43T>G
n.631T>G
c.455T>G (p.Leu152Trp)
4g.6289118G>ACA438210876WFS1c.447G>A (p.Leu149=)
c.437G>A
c.198G>A (p.Leu66=)
c.246G>A (p.Leu82=)
c.321G>A (p.Leu107=)
c.44G>A
n.632G>A
c.456G>A (p.Leu152=)
4g.6289118G>CCA356171773WFS1c.447G>C (p.Leu149Phe)
c.437G>C
c.198G>C (p.Leu66Phe)
c.246G>C (p.Leu82Phe)
c.321G>C (p.Leu107Phe)
c.44G>C
n.632G>C
c.456G>C (p.Leu152Phe)
4g.6289118G>TCA356171775WFS1c.447G>T (p.Leu149Phe)
c.437G>T
c.198G>T (p.Leu66Phe)
c.246G>T (p.Leu82Phe)
c.321G>T (p.Leu107Phe)
c.44G>T
n.632G>T
c.456G>T (p.Leu152Phe)
gnomAD v4
4g.6289119G>ACA356171777WFS1c.448G>A (p.Ala150Thr)
c.438G>A
c.199G>A (p.Ala67Thr)
c.247G>A (p.Ala83Thr)
c.322G>A (p.Ala108Thr)
c.45G>A
n.633G>A
c.457G>A (p.Ala153Thr)
gnomAD v4
4g.6289119G>CCA356171781WFS1c.448G>C (p.Ala150Pro)
c.438G>C
c.199G>C (p.Ala67Pro)
c.247G>C (p.Ala83Pro)
c.322G>C (p.Ala108Pro)
c.45G>C
n.633G>C
c.457G>C (p.Ala153Pro)
4g.6289119G>TCA356171779WFS1c.448G>T (p.Ala150Ser)
c.438G>T
c.199G>T (p.Ala67Ser)
c.247G>T (p.Ala83Ser)
c.322G>T (p.Ala108Ser)
c.45G>T
n.633G>T
c.457G>T (p.Ala153Ser)
gnomAD v4
4g.6289120C>ACA356171784WFS1c.449C>A (p.Ala150Glu)
c.439C>A
c.200C>A (p.Ala67Glu)
c.248C>A (p.Ala83Glu)
c.323C>A (p.Ala108Glu)
c.46C>A
n.634C>A
c.458C>A (p.Ala153Glu)
dbSNP gnomAD v4
4g.6289120C=CA1435766937WFS1c.449C= (p.Ala150=)
c.439C=
c.200C= (p.Ala67=)
c.248C= (p.Ala83=)
c.323C= (p.Ala108=)
c.46C=
n.634C=
c.458C= (p.Ala153=)
4g.6289120C>GCA356171786WFS1c.449C>G (p.Ala150Gly)
c.439C>G
c.200C>G (p.Ala67Gly)
c.248C>G (p.Ala83Gly)
c.323C>G (p.Ala108Gly)
c.46C>G
n.634C>G
c.458C>G (p.Ala153Gly)
4g.6289120C>TCA182610WFS1c.449C>T (p.Ala150Val)
c.439C>T
c.200C>T (p.Ala67Val)
c.248C>T (p.Ala83Val)
c.323C>T (p.Ala108Val)
c.46C>T
n.634C>T
c.458C>T (p.Ala153Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6289121G>ACA2838894WFS1c.450G>A (p.Ala150=)
c.440G>A
c.201G>A (p.Ala67=)
c.249G>A (p.Ala83=)
c.324G>A (p.Ala108=)
c.47G>A
n.635G>A
c.459G>A (p.Ala153=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6289121G>CCA438210879WFS1c.450G>C (p.Ala150=)
c.440G>C
c.201G>C (p.Ala67=)
c.249G>C (p.Ala83=)
c.324G>C (p.Ala108=)
c.47G>C
n.635G>C
c.459G>C (p.Ala153=)
gnomAD v4
4g.6289121G=CA1435766944WFS1c.450G= (p.Ala150=)
c.440G=
c.201G= (p.Ala67=)
c.249G= (p.Ala83=)
c.324G= (p.Ala108=)
c.47G=
n.635G=
c.459G= (p.Ala153=)
4g.6289121G>TCA438210880WFS1c.450G>T (p.Ala150=)
c.440G>T
c.201G>T (p.Ala67=)
c.249G>T (p.Ala83=)
c.324G>T (p.Ala108=)
c.47G>T
n.635G>T
c.459G>T (p.Ala153=)
gnomAD v4
4g.6289122G>ACA356171792WFS1c.451G>A (p.Asp151Asn)
c.441G>A
c.202G>A (p.Asp68Asn)
c.250G>A (p.Asp84Asn)
c.325G>A (p.Asp109Asn)
c.48G>A
n.636G>A
c.460G>A (p.Asp154Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6289122G>CCA356171790WFS1c.451G>C (p.Asp151His)
c.441G>C
c.202G>C (p.Asp68His)
c.250G>C (p.Asp84His)
c.325G>C (p.Asp109His)
c.48G>C
n.636G>C
c.460G>C (p.Asp154His)
4g.6289122G=CA1435766948WFS1c.451G= (p.Asp151=)
c.441G=
c.202G= (p.Asp68=)
c.250G= (p.Asp84=)
c.325G= (p.Asp109=)
c.48G=
n.636G=
c.460G= (p.Asp154=)
4g.6289122G>TCA356171794WFS1c.451G>T (p.Asp151Tyr)
c.441G>T
c.202G>T (p.Asp68Tyr)
c.250G>T (p.Asp84Tyr)
c.325G>T (p.Asp109Tyr)
c.48G>T
n.636G>T
c.460G>T (p.Asp154Tyr)
gnomAD v4
4g.6289123A>CCA356171796WFS1c.452A>C (p.Asp151Ala)
c.442A>C
c.203A>C (p.Asp68Ala)
c.251A>C (p.Asp84Ala)
c.326A>C (p.Asp109Ala)
c.49A>C
n.637A>C
c.461A>C (p.Asp154Ala)
4g.6289123A>GCA356171798WFS1c.452A>G (p.Asp151Gly)
c.442A>G
c.203A>G (p.Asp68Gly)
c.251A>G (p.Asp84Gly)
c.326A>G (p.Asp109Gly)
c.49A>G
n.637A>G
c.461A>G (p.Asp154Gly)
gnomAD v4
4g.6289123A>TCA356171797WFS1c.452A>T (p.Asp151Val)
c.442A>T
c.203A>T (p.Asp68Val)
c.251A>T (p.Asp84Val)
c.326A>T (p.Asp109Val)
c.49A>T
n.637A>T
c.461A>T (p.Asp154Val)
gnomAD v4
4g.6289124C>ACA356171799WFS1c.453C>A (p.Asp151Glu)
c.443C>A
c.204C>A (p.Asp68Glu)
c.252C>A (p.Asp84Glu)
c.327C>A (p.Asp109Glu)
c.50C>A
n.638C>A
c.462C>A (p.Asp154Glu)
gnomAD v4
4g.6289124C=CA1435766954WFS1c.453C= (p.Asp151=)
c.443C=
c.204C= (p.Asp68=)
c.252C= (p.Asp84=)
c.327C= (p.Asp109=)
c.50C=
n.638C=
c.462C= (p.Asp154=)
4g.6289124C>GCA356171800WFS1c.453C>G (p.Asp151Glu)
c.443C>G
c.204C>G (p.Asp68Glu)
c.252C>G (p.Asp84Glu)
c.327C>G (p.Asp109Glu)
c.50C>G
n.638C>G
c.462C>G (p.Asp154Glu)
4g.6289124C>TCA438210882WFS1c.453C>T (p.Asp151=)
c.443C>T
c.204C>T (p.Asp68=)
c.252C>T (p.Asp84=)
c.327C>T (p.Asp109=)
c.50C>T
n.638C>T
c.462C>T (p.Asp154=)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6289124_6289131delCA2586973592WFS1c.453_460del (p.Asp151GlufsTer?)
c.443_450del
c.453_460del (p.Asp151GlufsTer18)
c.204_211del (p.Asp68GlufsTer?)
c.252_259del (p.Asp84GlufsTer?)
c.327_334del (p.Asp109GlufsTer?)
c.50_57del
n.638_645del
c.462_469del (p.Asp154GlufsTer?)
4g.6289125A=CA1435766959WFS1c.454A= (p.Arg152=)
c.444A=
c.205A= (p.Arg69=)
c.253A= (p.Arg85=)
c.328A= (p.Arg110=)
c.51A=
n.639A=
c.463A= (p.Arg155=)
4g.6289125A>CCA438210883WFS1c.454A>C (p.Arg152=)
c.444A>C
c.205A>C (p.Arg69=)
c.253A>C (p.Arg85=)
c.328A>C (p.Arg110=)
c.51A>C
n.639A>C
c.463A>C (p.Arg155=)
4g.6289125A>GCA2838895WFS1c.454A>G (p.Arg152Gly)
c.444A>G
c.205A>G (p.Arg69Gly)
c.253A>G (p.Arg85Gly)
c.328A>G (p.Arg110Gly)
c.51A>G
n.639A>G
c.463A>G (p.Arg155Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6289125A>TCA356171801WFS1c.454A>T (p.Arg152Ter)
c.444A>T
c.205A>T (p.Arg69Ter)
c.253A>T (p.Arg85Ter)
c.328A>T (p.Arg110Ter)
c.51A>T
n.639A>T
c.463A>T (p.Arg155Ter)
4g.6289126G>ACA356171802WFS1c.455G>A (p.Arg152Lys)
c.445G>A
c.206G>A (p.Arg69Lys)
c.254G>A (p.Arg85Lys)
c.329G>A (p.Arg110Lys)
c.52G>A
n.640G>A
c.464G>A (p.Arg155Lys)
gnomAD v4 COSMIC
4g.6289126G>CCA356171803WFS1c.455G>C (p.Arg152Thr)
c.445G>C
c.206G>C (p.Arg69Thr)
c.254G>C (p.Arg85Thr)
c.329G>C (p.Arg110Thr)
c.52G>C
n.640G>C
c.464G>C (p.Arg155Thr)
4g.6289126G>TCA356171804WFS1c.455G>T (p.Arg152Ile)
c.445G>T
c.206G>T (p.Arg69Ile)
c.254G>T (p.Arg85Ile)
c.329G>T (p.Arg110Ile)
c.52G>T
n.640G>T
c.464G>T (p.Arg155Ile)
gnomAD v4
4g.6289127A=CA1435766964WFS1c.456A= (p.Arg152=)
c.446A=
c.207A= (p.Arg69=)
c.255A= (p.Arg85=)
c.330A= (p.Arg110=)
c.53A=
n.641A=
c.465A= (p.Arg155=)
4g.6289127A>CCA356171805WFS1c.456A>C (p.Arg152Ser)
c.446A>C
c.207A>C (p.Arg69Ser)
c.255A>C (p.Arg85Ser)
c.330A>C (p.Arg110Ser)
c.53A>C
n.641A>C
c.465A>C (p.Arg155Ser)
4g.6289127A>GCA438210885WFS1c.456A>G (p.Arg152=)
c.446A>G
c.207A>G (p.Arg69=)
c.255A>G (p.Arg85=)
c.330A>G (p.Arg110=)
c.53A>G
n.641A>G
c.465A>G (p.Arg155=)
ClinVar dbSNP
4g.6289127A>TCA356171806WFS1c.456A>T (p.Arg152Ser)
c.446A>T
c.207A>T (p.Arg69Ser)
c.255A>T (p.Arg85Ser)
c.330A>T (p.Arg110Ser)
c.53A>T
n.641A>T
c.465A>T (p.Arg155Ser)
ClinVar dbSNP gnomAD v4
4g.6289128A=CA1435766968WFS1c.457A= (p.Arg153=)
c.447A=
c.208A= (p.Arg70=)
c.256A= (p.Arg86=)
c.331A= (p.Arg111=)
c.54A=
n.642A=
c.466A= (p.Arg156=)
4g.6289128A>CCA438210886WFS1c.457A>C (p.Arg153=)
c.447A>C
c.208A>C (p.Arg70=)
c.256A>C (p.Arg86=)
c.331A>C (p.Arg111=)
c.54A>C
n.642A>C
c.466A>C (p.Arg156=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6289128A>GCA356171807WFS1c.457A>G (p.Arg153Gly)
c.447A>G
c.208A>G (p.Arg70Gly)
c.256A>G (p.Arg86Gly)
c.331A>G (p.Arg111Gly)
c.54A>G
n.642A>G
c.466A>G (p.Arg156Gly)
4g.6289128A>TCA356171808WFS1c.457A>T (p.Arg153Ter)
c.447A>T
c.208A>T (p.Arg70Ter)
c.256A>T (p.Arg86Ter)
c.331A>T (p.Arg111Ter)
c.54A>T
n.642A>T
c.466A>T (p.Arg156Ter)
gnomAD v4
4g.6289129G>ACA356171811WFS1c.458G>A (p.Arg153Lys)
c.448G>A
c.209G>A (p.Arg70Lys)
c.257G>A (p.Arg86Lys)
c.332G>A (p.Arg111Lys)
c.55G>A
n.643G>A
c.467G>A (p.Arg156Lys)
4g.6289129G>CCA356171810WFS1c.458G>C (p.Arg153Thr)
c.448G>C
c.209G>C (p.Arg70Thr)
c.257G>C (p.Arg86Thr)
c.332G>C (p.Arg111Thr)
c.55G>C
n.643G>C
c.467G>C (p.Arg156Thr)
4g.6289129G=CA1435766973WFS1c.458G= (p.Arg153=)
c.448G=
c.209G= (p.Arg70=)
c.257G= (p.Arg86=)
c.332G= (p.Arg111=)
c.55G=
n.643G=
c.467G= (p.Arg156=)
4g.6289129G>TCA356171809WFS1c.458G>T (p.Arg153Ile)
c.448G>T
c.209G>T (p.Arg70Ile)
c.257G>T (p.Arg86Ile)
c.332G>T (p.Arg111Ile)
c.55G>T
n.643G>T
c.467G>T (p.Arg156Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6289130A>CCA356171812WFS1c.459A>C (p.Arg153Ser)
c.449A>C
c.210A>C (p.Arg70Ser)
c.258A>C (p.Arg86Ser)
c.333A>C (p.Arg111Ser)
c.56A>C
n.644A>C
c.468A>C (p.Arg156Ser)
4g.6289130A>GCA438210888WFS1c.459A>G (p.Arg153=)
c.449A>G
c.210A>G (p.Arg70=)
c.258A>G (p.Arg86=)
c.333A>G (p.Arg111=)
c.56A>G
n.644A>G
c.468A>G (p.Arg156=)
gnomAD v4
4g.6289130A>TCA356171813WFS1c.459A>T (p.Arg153Ser)
c.449A>T
c.210A>T (p.Arg70Ser)
c.258A>T (p.Arg86Ser)
c.333A>T (p.Arg111Ser)
c.56A>T
n.644A>T
c.468A>T (p.Arg156Ser)
4g.6289131G>ACA356171814WFS1c.460G>A (p.Gly154Ser)
c.450G>A
c.211G>A (p.Gly71Ser)
c.259G>A (p.Gly87Ser)
c.334G>A (p.Gly112Ser)
c.57G>A
n.645G>A
c.469G>A (p.Gly157Ser)
gnomAD v4
4g.6289131G>CCA356171815WFS1c.460G>C (p.Gly154Arg)
c.450G>C
c.211G>C (p.Gly71Arg)
c.259G>C (p.Gly87Arg)
c.334G>C (p.Gly112Arg)
c.57G>C
n.645G>C
c.469G>C (p.Gly157Arg)
4g.6289131G>TCA356171816WFS1c.460G>T (p.Gly154Cys)
c.450G>T
c.211G>T (p.Gly71Cys)
c.259G>T (p.Gly87Cys)
c.334G>T (p.Gly112Cys)
c.57G>T
n.645G>T
c.469G>T (p.Gly157Cys)
4g.6289132G>ACA356171817WFS1c.460+1G>A (n.460+1G>A)
c.450+1G>A
c.461G>A (p.Gly154Asp)
c.211+1G>A (n.211+1G>A)
c.259+1G>A (n.259+1G>A)
c.334+1G>A (n.334+1G>A)
c.57+1G>A
n.645+1G>A
c.469+1G>A (n.469+1G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6289132G>CCA356171818WFS1c.460+1G>C (n.460+1G>C)
c.450+1G>C
c.461G>C (p.Gly154Ala)
c.211+1G>C (n.211+1G>C)
c.259+1G>C (n.259+1G>C)
c.334+1G>C (n.334+1G>C)
c.57+1G>C
n.645+1G>C
c.469+1G>C (n.469+1G>C)
ClinVar gnomAD v4
4g.6289132G=CA1435766979WFS1c.460+1G= (n.460+1G=)
c.450+1G=
c.461G= (p.Gly154=)
c.211+1G= (n.211+1G=)
c.259+1G= (n.259+1G=)
c.334+1G= (n.334+1G=)
c.57+1G=
n.645+1G=
c.469+1G= (n.469+1G=)
4g.6289132G>TCA356171819WFS1c.460+1G>T (n.460+1G>T)
c.450+1G>T
c.461G>T (p.Gly154Val)
c.211+1G>T (n.211+1G>T)
c.259+1G>T (n.259+1G>T)
c.334+1G>T (n.334+1G>T)
c.57+1G>T
n.645+1G>T
c.469+1G>T (n.469+1G>T)
dbSNP gnomAD v4
4g.6289133T>ACA356171820WFS1c.460+2T>A (n.460+2T>A)
c.450+2T>A
c.462T>A (p.Gly154=)
c.211+2T>A (n.211+2T>A)
c.259+2T>A (n.259+2T>A)
c.334+2T>A (n.334+2T>A)
c.57+2T>A
n.645+2T>A
c.469+2T>A (n.469+2T>A)
4g.6289133T>CCA356171821WFS1c.460+2T>C (n.460+2T>C)
c.450+2T>C
c.462T>C (p.Gly154=)
c.211+2T>C (n.211+2T>C)
c.259+2T>C (n.259+2T>C)
c.334+2T>C (n.334+2T>C)
c.57+2T>C
n.645+2T>C
c.469+2T>C (n.469+2T>C)
4g.6289133T>GCA356171822WFS1c.460+2T>G (n.460+2T>G)
c.450+2T>G
c.462T>G (p.Gly154=)
c.211+2T>G (n.211+2T>G)
c.259+2T>G (n.259+2T>G)
c.334+2T>G (n.334+2T>G)
c.57+2T>G
n.645+2T>G
c.469+2T>G (n.469+2T>G)
4g.6289134G>ACA2669825536WFS1c.460+3G>A (n.460+3G>A)
c.450+3G>A
c.463G>A (p.Gly155Arg)
c.211+3G>A (n.211+3G>A)
c.259+3G>A (n.259+3G>A)
c.334+3G>A (n.334+3G>A)
c.57+3G>A
n.645+3G>A
c.469+3G>A (n.469+3G>A)
gnomAD v4
4g.6289134G>TCA2669825537WFS1c.460+3G>T (n.460+3G>T)
c.450+3G>T
c.463G>T (p.Gly155Trp)
c.211+3G>T (n.211+3G>T)
c.259+3G>T (n.259+3G>T)
c.334+3G>T (n.334+3G>T)
c.57+3G>T
n.645+3G>T
c.469+3G>T (n.469+3G>T)
gnomAD v4
4g.6289135G>ACA2838896WFS1c.460+4G>A (n.460+4G>A)
c.450+4G>A
c.464G>A (p.Gly155Glu)
c.211+4G>A (n.211+4G>A)
c.259+4G>A (n.259+4G>A)
c.334+4G>A (n.334+4G>A)
c.57+4G>A
n.645+4G>A
c.469+4G>A (n.469+4G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6289135G=CA1435766981WFS1c.460+4G= (n.460+4G=)
c.450+4G=
c.464G= (p.Gly155=)
c.211+4G= (n.211+4G=)
c.259+4G= (n.259+4G=)
c.334+4G= (n.334+4G=)
c.57+4G=
n.645+4G=
c.469+4G= (n.469+4G=)
4g.6289135G>TCA2669825538WFS1c.460+4G>T (n.460+4G>T)
c.450+4G>T
c.464G>T (p.Gly155Val)
c.211+4G>T (n.211+4G>T)
c.259+4G>T (n.259+4G>T)
c.334+4G>T (n.334+4G>T)
c.57+4G>T
n.645+4G>T
c.469+4G>T (n.469+4G>T)
gnomAD v4
4g.6289136G>ACA2580071764WFS1c.460+5G>A (n.460+5G>A)
c.450+5G>A
c.465G>A (p.Gly155=)
c.211+5G>A (n.211+5G>A)
c.259+5G>A (n.259+5G>A)
c.334+5G>A (n.334+5G>A)
c.57+5G>A
n.645+5G>A
c.469+5G>A (n.469+5G>A)
ClinVar gnomAD v4
4g.6289136G>TCA2669825539WFS1c.460+5G>T (n.460+5G>T)
c.450+5G>T
c.465G>T (p.Gly155=)
c.211+5G>T (n.211+5G>T)
c.259+5G>T (n.259+5G>T)
c.334+5G>T (n.334+5G>T)
c.57+5G>T
n.645+5G>T
c.469+5G>T (n.469+5G>T)
gnomAD v4
4g.6289137T>CCA1435766985WFS1c.460+6T>C (n.460+6T>C)
c.450+6T>C
c.466T>C (p.Ser156Pro)
c.211+6T>C (n.211+6T>C)
c.259+6T>C (n.259+6T>C)
c.334+6T>C (n.334+6T>C)
c.57+6T>C
n.645+6T>C
c.469+6T>C (n.469+6T>C)
dbSNP
4g.6289137T>GCA1435766986WFS1c.460+6T>G (n.460+6T>G)
c.450+6T>G
c.466T>G (p.Ser156Ala)
c.211+6T>G (n.211+6T>G)
c.259+6T>G (n.259+6T>G)
c.334+6T>G (n.334+6T>G)
c.57+6T>G
n.645+6T>G
c.469+6T>G (n.469+6T>G)
dbSNP
4g.6289137T=CA1435766984WFS1c.460+6T= (n.460+6T=)
c.450+6T=
c.466T= (p.Ser156=)
c.211+6T= (n.211+6T=)
c.259+6T= (n.259+6T=)
c.334+6T= (n.334+6T=)
c.57+6T=
n.645+6T=
c.469+6T= (n.469+6T=)
4g.6289138C>ACA797126149WFS1c.460+7C>A (n.460+7C>A)
c.450+7C>A
c.467C>A (p.Ser156Tyr)
c.211+7C>A (n.211+7C>A)
c.259+7C>A (n.259+7C>A)
c.334+7C>A (n.334+7C>A)
c.57+7C>A
n.645+7C>A
c.469+7C>A (n.469+7C>A)
dbSNP gnomAD v4
4g.6289138C=CA1435766987WFS1c.460+7C= (n.460+7C=)
c.450+7C=
c.467C= (p.Ser156=)
c.211+7C= (n.211+7C=)
c.259+7C= (n.259+7C=)
c.334+7C= (n.334+7C=)
c.57+7C=
n.645+7C=
c.469+7C= (n.469+7C=)
4g.6289138C>TCA2669825540WFS1c.460+7C>T (n.460+7C>T)
c.450+7C>T
c.467C>T (p.Ser156Phe)
c.211+7C>T (n.211+7C>T)
c.259+7C>T (n.259+7C>T)
c.334+7C>T (n.334+7C>T)
c.57+7C>T
n.645+7C>T
c.469+7C>T (n.469+7C>T)
gnomAD v4
4g.6289139T>ACA2669825541WFS1c.460+8T>A (n.460+8T>A)
c.450+8T>A
c.468T>A (p.Ser156=)
c.211+8T>A (n.211+8T>A)
c.259+8T>A (n.259+8T>A)
c.334+8T>A (n.334+8T>A)
c.57+8T>A
n.645+8T>A
c.469+8T>A (n.469+8T>A)
gnomAD v4
4g.6289140G>ACA2669825542WFS1c.460+9G>A (n.460+9G>A)
c.450+9G>A
c.469G>A (p.Val157Met)
c.211+9G>A (n.211+9G>A)
c.259+9G>A (n.259+9G>A)
c.334+9G>A (n.334+9G>A)
c.57+9G>A
n.645+9G>A
c.469+9G>A (n.469+9G>A)
ClinVar gnomAD v4
4g.6289140G>TCA2669825543WFS1c.460+9G>T (n.460+9G>T)
c.450+9G>T
c.469G>T (p.Val157Leu)
c.211+9G>T (n.211+9G>T)
c.259+9G>T (n.259+9G>T)
c.334+9G>T (n.334+9G>T)
c.57+9G>T
n.645+9G>T
c.469+9G>T (n.469+9G>T)
gnomAD v4
4g.6289141T>CCA2669825544WFS1c.460+10T>C (n.460+10T>C)
c.450+10T>C
c.470T>C (p.Val157Ala)
c.211+10T>C (n.211+10T>C)
c.259+10T>C (n.259+10T>C)
c.334+10T>C (n.334+10T>C)
c.57+10T>C
n.645+10T>C
c.469+10T>C (n.469+10T>C)
gnomAD v4
4g.6289141T>GCA797126151WFS1c.460+10T>G (n.460+10T>G)
c.450+10T>G
c.470T>G (p.Val157Gly)
c.211+10T>G (n.211+10T>G)
c.259+10T>G (n.259+10T>G)
c.334+10T>G (n.334+10T>G)
c.57+10T>G
n.645+10T>G
c.469+10T>G (n.469+10T>G)
dbSNP gnomAD v4
4g.6289141T=CA1435766990WFS1c.460+10T= (n.460+10T=)
c.450+10T=
c.470T= (p.Val157=)
c.211+10T= (n.211+10T=)
c.259+10T= (n.259+10T=)
c.334+10T= (n.334+10T=)
c.57+10T=
n.645+10T=
c.469+10T= (n.469+10T=)
4g.6289142G>ACA2838897WFS1c.460+11G>A (n.460+11G>A)
c.450+11G>A
c.471G>A (p.Val157=)
c.211+11G>A (n.211+11G>A)
c.259+11G>A (n.259+11G>A)
c.334+11G>A (n.334+11G>A)
c.57+11G>A
n.645+11G>A
c.469+11G>A (n.469+11G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6289142G>CCA549422973WFS1c.460+11G>C (n.460+11G>C)
c.450+11G>C
c.471G>C (p.Val157=)
c.211+11G>C (n.211+11G>C)
c.259+11G>C (n.259+11G>C)
c.334+11G>C (n.334+11G>C)
c.57+11G>C
n.645+11G>C
c.469+11G>C (n.469+11G>C)
dbSNP gnomAD v2 gnomAD v4
4g.6289142G=CA1435766993WFS1c.460+11G= (n.460+11G=)
c.450+11G=
c.471G= (p.Val157=)
c.211+11G= (n.211+11G=)
c.259+11G= (n.259+11G=)
c.334+11G= (n.334+11G=)
c.57+11G=
n.645+11G=
c.469+11G= (n.469+11G=)
4g.6289142G>TCA2669825545WFS1c.460+11G>T (n.460+11G>T)
c.450+11G>T
c.471G>T (p.Val157=)
c.211+11G>T (n.211+11G>T)
c.259+11G>T (n.259+11G>T)
c.334+11G>T (n.334+11G>T)
c.57+11G>T
n.645+11G>T
c.469+11G>T (n.469+11G>T)
gnomAD v4
4g.6289143T>CCA2669825546WFS1c.460+12T>C (n.460+12T>C)
c.450+12T>C
c.472T>C (p.Ter158Arg)
c.211+12T>C (n.211+12T>C)
c.259+12T>C (n.259+12T>C)
c.334+12T>C (n.334+12T>C)
c.57+12T>C
n.645+12T>C
c.469+12T>C (n.469+12T>C)
gnomAD v4
4g.6289144G>ACA2838898WFS1c.460+13G>A (n.460+13G>A)
c.450+13G>A
c.473G>A (p.Ter158=)
c.211+13G>A (n.211+13G>A)
c.259+13G>A (n.259+13G>A)
c.334+13G>A (n.334+13G>A)
c.57+13G>A
n.645+13G>A
c.469+13G>A (n.469+13G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6289144G=CA1435766997WFS1c.460+13G= (n.460+13G=)
c.450+13G=
c.473G= (p.Ter158=)
c.211+13G= (n.211+13G=)
c.259+13G= (n.259+13G=)
c.334+13G= (n.334+13G=)
c.57+13G=
n.645+13G=
c.469+13G= (n.469+13G=)
4g.6289144G>TCA2669825547WFS1c.460+13G>T (n.460+13G>T)
c.450+13G>T
c.473G>T (p.Ter158Leu)
c.211+13G>T (n.211+13G>T)
c.259+13G>T (n.259+13G>T)
c.334+13G>T (n.334+13G>T)
c.57+13G>T
n.645+13G>T
c.469+13G>T (n.469+13G>T)
dbSNP gnomAD v4
4g.6289145delCA2580071765WFS1c.460+14del (n.460+14del)
c.450+14del
c.474del (p.Ter158TrpextTer3)
c.211+14del (n.211+14del)
c.259+14del (n.259+14del)
c.334+14del (n.334+14del)
c.57+14del
n.645+14del
c.469+14del (n.469+14del)
ClinVar
4g.6289145A>GCA2669825548WFS1c.460+14A>G (n.460+14A>G)
c.450+14A>G
c.474A>G (p.Ter158Trp)
c.211+14A>G (n.211+14A>G)
c.259+14A>G (n.259+14A>G)
c.334+14A>G (n.334+14A>G)
c.57+14A>G
n.645+14A>G
c.469+14A>G (n.469+14A>G)
gnomAD v4
4g.6289145A>TCA2669825549WFS1c.460+14A>T (n.460+14A>T)
c.450+14A>T
c.474A>T (p.Ter158Cys)
c.211+14A>T (n.211+14A>T)
c.259+14A>T (n.259+14A>T)
c.334+14A>T (n.334+14A>T)
c.57+14A>T
n.645+14A>T
c.469+14A>T (n.469+14A>T)
gnomAD v4
4g.6289146G>ACA549422974WFS1c.460+15G>A (n.460+15G>A)
c.450+15G>A
c.*1G>A (n.*1G>A)
c.211+15G>A (n.211+15G>A)
c.259+15G>A (n.259+15G>A)
c.334+15G>A (n.334+15G>A)
c.57+15G>A
n.645+15G>A
c.469+15G>A (n.469+15G>A)
dbSNP gnomAD v2 gnomAD v4
4g.6289146G=CA1435767000WFS1c.460+15G= (n.460+15G=)
c.450+15G=
c.*1G= (n.*1G=)
c.211+15G= (n.211+15G=)
c.259+15G= (n.259+15G=)
c.334+15G= (n.334+15G=)
c.57+15G=
n.645+15G=
c.469+15G= (n.469+15G=)
4g.6289146G>TCA2669825550WFS1c.460+15G>T (n.460+15G>T)
c.450+15G>T
c.*1G>T (n.*1G>T)
c.211+15G>T (n.211+15G>T)
c.259+15G>T (n.259+15G>T)
c.334+15G>T (n.334+15G>T)
c.57+15G>T
n.645+15G>T
c.469+15G>T (n.469+15G>T)
gnomAD v4
4g.6289147G>ACA2669825551WFS1c.460+16G>A (n.460+16G>A)
c.450+16G>A
c.*2G>A (n.*2G>A)
c.211+16G>A (n.211+16G>A)
c.259+16G>A (n.259+16G>A)
c.334+16G>A (n.334+16G>A)
c.57+16G>A
n.645+16G>A
c.469+16G>A (n.469+16G>A)
gnomAD v4
4g.6289147G=CA1435767003WFS1c.460+16G= (n.460+16G=)
c.450+16G=
c.*2G= (n.*2G=)
c.211+16G= (n.211+16G=)
c.259+16G= (n.259+16G=)
c.334+16G= (n.334+16G=)
c.57+16G=
n.645+16G=
c.469+16G= (n.469+16G=)
4g.6289147G>TCA91794320WFS1c.460+16G>T (n.460+16G>T)
c.450+16G>T
c.*2G>T (n.*2G>T)
c.211+16G>T (n.211+16G>T)
c.259+16G>T (n.259+16G>T)
c.334+16G>T (n.334+16G>T)
c.57+16G>T
n.645+16G>T
c.469+16G>T (n.469+16G>T)
dbSNP gnomAD v4

Number of alleles fetched