Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.6289047G>A | CA2838877 | WFS1 | c.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 |
4 | g.6289047G>C | CA356171480 | WFS1 | c.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) | |
4 | g.6289047G= | CA1435766699 | WFS1 | c.376G= (p.Ala126=) c.366G= c.127G= (p.Ala43=) c.175G= (p.Ala59=) c.250G= (p.Ala84=) n.561G= c.385G= (p.Ala129=) | |
4 | g.6289047G>T | CA356171482 | WFS1 | c.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 |
4 | g.6289048C>A | CA356171484 | WFS1 | c.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) | |
4 | g.6289048C>G | CA356171488 | WFS1 | c.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) | |
4 | g.6289048C>T | CA356171486 | WFS1 | c.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 |
4 | g.6289049T>A | CA438210784 | WFS1 | c.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=) | |
4 | g.6289049T>C | CA438210788 | WFS1 | c.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=) | |
4 | g.6289049T>G | CA438210786 | WFS1 | c.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=) | |
4 | g.6289050G>A | CA356171490 | WFS1 | c.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 |
4 | g.6289050G>C | CA356171492 | WFS1 | c.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) | |
4 | g.6289050G= | CA1435766709 | WFS1 | c.379G= (p.Val127=) c.369G= c.130G= (p.Val44=) c.178G= (p.Val60=) c.253G= (p.Val85=) n.564G= c.388G= (p.Val130=) | |
4 | g.6289050G>T | CA356171494 | WFS1 | c.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) | |
4 | g.6289051T>A | CA356171496 | WFS1 | c.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) | |
4 | g.6289051T>C | CA356171498 | WFS1 | c.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) | |
4 | g.6289051T>G | CA356171500 | WFS1 | c.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) | |
4 | g.6289052G>A | CA438210790 | WFS1 | c.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 |
4 | g.6289052G>C | CA438210792 | WFS1 | c.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 |
4 | g.6289052G>T | CA438210793 | WFS1 | c.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=) | |
4 | g.6289053G>A | CA356171505 | WFS1 | c.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 |
4 | g.6289053G>C | CA356171502 | WFS1 | c.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) | |
4 | g.6289053G= | CA1435766711 | WFS1 | c.382G= (p.Asp128=) c.372G= c.133G= (p.Asp45=) c.181G= (p.Asp61=) c.256G= (p.Asp86=) n.567G= c.391G= (p.Asp131=) | |
4 | g.6289053G>T | CA2838878 | WFS1 | c.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 |
4 | g.6289054A>C | CA356171507 | WFS1 | c.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) | |
4 | g.6289054A>G | CA356171510 | WFS1 | c.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) | |
4 | g.6289054A>T | CA356171512 | WFS1 | c.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) | |
4 | g.6289055C>A | CA356171514 | WFS1 | c.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) | |
4 | g.6289055C>G | CA356171516 | WFS1 | c.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) | |
4 | g.6289055C>T | CA438210796 | WFS1 | c.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=) | |
4 | g.6289056T>A | CA356171518 | WFS1 | c.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) | |
4 | g.6289056T>C | CA356171522 | WFS1 | c.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) | |
4 | g.6289056T>G | CA356171520 | WFS1 | c.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) | |
4 | g.6289057G>A | CA356171524 | WFS1 | c.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 |
4 | g.6289057G>C | CA356171526 | WFS1 | c.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) | |
4 | g.6289057G>T | CA356171528 | WFS1 | c.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) | |
4 | g.6289057_6289069del | CA2580071761 | WFS1 | c.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 |
4 | g.6289058G>A | CA2838879 | WFS1 | c.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 |
4 | g.6289058G>C | CA356171531 | WFS1 | c.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) | |
4 | g.6289058G= | CA1435766715 | WFS1 | c.387G= (p.Trp129=) c.377G= c.138G= (p.Trp46=) c.186G= (p.Trp62=) c.261G= (p.Trp87=) n.572G= c.396G= (p.Trp132=) | |
4 | g.6289058G>T | CA356171533 | WFS1 | c.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) | |
4 | g.6289059C>A | CA356171535 | WFS1 | c.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 |
4 | g.6289059C= | CA1435766721 | WFS1 | c.388C= (p.Leu130=) c.378C= c.139C= (p.Leu47=) c.187C= (p.Leu63=) c.262C= (p.Leu88=) n.573C= c.397C= (p.Leu133=) | |
4 | g.6289059C>G | CA356171537 | WFS1 | c.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) | |
4 | g.6289059C>T | CA438210803 | WFS1 | c.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 |
4 | g.6289060T>A | CA356171539 | WFS1 | c.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) | |
4 | g.6289060T>C | CA356171541 | WFS1 | c.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 |
4 | g.6289060T>G | CA356171543 | WFS1 | c.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) | |
4 | g.6289061G>A | CA438210805 | WFS1 | c.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 |
4 | g.6289061G>C | CA438210806 | WFS1 | c.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=) | |
4 | g.6289061G= | CA1435766723 | WFS1 | c.390G= (p.Leu130=) c.380G= c.141G= (p.Leu47=) c.189G= (p.Leu63=) c.264G= (p.Leu88=) n.575G= c.399G= (p.Leu133=) | |
4 | g.6289061G>T | CA438210807 | WFS1 | c.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=) | |
4 | g.6289062G>A | CA356171546 | WFS1 | c.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 |
4 | g.6289062G>C | CA356171548 | WFS1 | c.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) | |
4 | g.6289062G>T | CA356171545 | WFS1 | c.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) | |
4 | g.6289062_6289063delinsGT | CA1435766727 | WFS1 | c.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=) | |
4 | g.6289063del | CA549422956 | WFS1 | c.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 |
4 | g.6289063T>A | CA356171551 | WFS1 | c.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) | |
4 | g.6289063T>C | CA356171550 | WFS1 | c.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) | |
4 | g.6289063T>G | CA2838880 | WFS1 | c.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 |
4 | g.6289063T= | CA1435766733 | WFS1 | c.392T= (p.Val131=) c.382T= c.143T= (p.Val48=) c.191T= (p.Val64=) c.266T= (p.Val89=) n.577T= c.401T= (p.Val134=) | |
4 | g.6289064C>A | CA438210810 | WFS1 | c.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 |
4 | g.6289064C= | CA1435766737 | WFS1 | c.393C= (p.Val131=) c.383C= c.144C= (p.Val48=) c.192C= (p.Val64=) c.267C= (p.Val89=) n.578C= c.402C= (p.Val134=) | |
4 | g.6289064C>G | CA438210808 | WFS1 | c.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=) | |
4 | g.6289064C>T | CA2838881 | WFS1 | c.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 |
4 | g.6289065C>A | CA356171555 | WFS1 | c.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 |
4 | g.6289065C= | CA1435766739 | WFS1 | c.394C= (p.Leu132=) c.384C= c.145C= (p.Leu49=) c.193C= (p.Leu65=) c.268C= (p.Leu90=) n.579C= c.403C= (p.Leu135=) | |
4 | g.6289065C>G | CA91794310 | WFS1 | c.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 |
4 | g.6289065C>T | CA356171558 | WFS1 | c.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) | |
4 | g.6289066T>A | CA356171559 | WFS1 | c.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) | |
4 | g.6289066T>C | CA356171561 | WFS1 | c.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 |
4 | g.6289066T>G | CA2838882 | WFS1 | c.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 |
4 | g.6289066T= | CA1435766743 | WFS1 | c.395T= (p.Leu132=) c.385T= c.146T= (p.Leu49=) c.194T= (p.Leu65=) c.269T= (p.Leu90=) n.580T= c.404T= (p.Leu135=) | |
4 | g.6289067C>A | CA438210812 | WFS1 | c.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 |
4 | g.6289067C= | CA1435766749 | WFS1 | c.396C= (p.Leu132=) c.386C= c.147C= (p.Leu49=) c.195C= (p.Leu65=) c.270C= (p.Leu90=) n.581C= c.405C= (p.Leu135=) | |
4 | g.6289067C>G | CA438210813 | WFS1 | c.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 |
4 | g.6289067C>T | CA2838883 | WFS1 | c.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 |
4 | g.6289068G>A | CA91794311 | WFS1 | c.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 |
4 | g.6289068G>C | CA356171565 | WFS1 | c.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) | |
4 | g.6289068G= | CA1435766753 | WFS1 | c.397G= (p.Ala133=) c.387G= c.148G= (p.Ala50=) c.196G= (p.Ala66=) c.271G= (p.Ala91=) n.582G= c.406G= (p.Ala136=) | |
4 | g.6289068G>T | CA356171566 | WFS1 | c.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) | |
4 | g.6289069C>A | CA356171568 | WFS1 | c.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) | |
4 | g.6289069C>G | CA356171571 | WFS1 | c.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) | |
4 | g.6289069C>T | CA356171573 | WFS1 | c.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 |
4 | g.6289070C>A | CA438210814 | WFS1 | c.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=) | |
4 | g.6289070C= | CA1435766761 | WFS1 | c.399C= (p.Ala133=) c.389C= c.150C= (p.Ala50=) c.198C= (p.Ala66=) c.273C= (p.Ala91=) n.584C= c.408C= (p.Ala136=) | |
4 | g.6289070C>G | CA438210815 | WFS1 | c.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=) | |
4 | g.6289070C>T | CA2838884 | WFS1 | c.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 |
4 | g.6289071G>A | CA323087 | WFS1 | c.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 |
4 | g.6289071G>C | CA356171577 | WFS1 | c.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) | |
4 | g.6289071G= | CA1435766770 | WFS1 | c.400G= (p.Ala134=) c.390G= c.151G= (p.Ala51=) c.199G= (p.Ala67=) c.274G= (p.Ala92=) n.585G= c.409G= (p.Ala137=) | |
4 | g.6289071G>T | CA356171579 | WFS1 | c.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) | |
4 | g.6289072C>A | CA356171581 | WFS1 | c.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) | |
4 | g.6289072C= | CA1435766782 | WFS1 | c.401C= (p.Ala134=) c.391C= c.152C= (p.Ala51=) c.200C= (p.Ala67=) c.275C= (p.Ala92=) n.586C= c.410C= (p.Ala137=) | |
4 | g.6289072C>G | CA356171583 | WFS1 | c.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) | |
4 | g.6289072C>T | CA2838885 | WFS1 | c.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 |
4 | g.6289073G>A | CA282588 | WFS1 | c.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 |
4 | g.6289073G>C | CA438210819 | WFS1 | c.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=) | |
4 | g.6289073G= | CA1435766790 | WFS1 | c.402G= (p.Ala134=) c.392G= c.153G= (p.Ala51=) c.201G= (p.Ala67=) c.276G= (p.Ala92=) n.587G= c.411G= (p.Ala137=) | |
4 | g.6289073G>T | CA438210820 | WFS1 | c.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 |
4 | g.6289074A>C | CA356171587 | WFS1 | c.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) | |
4 | g.6289074A>G | CA356171589 | WFS1 | c.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) | |
4 | g.6289074A>T | CA356171590 | WFS1 | c.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) | |
4 | g.6289075A= | CA1435766798 | WFS1 | c.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=) | |
4 | g.6289075A>C | CA356171592 | WFS1 | c.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) | |
4 | g.6289075A>G | CA356171594 | WFS1 | c.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) | |
4 | g.6289075A>T | CA91794312 | WFS1 | c.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 |
4 | g.6289076G>A | CA438210825 | WFS1 | c.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=) | |
4 | g.6289076G>C | CA356171597 | WFS1 | c.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) | |
4 | g.6289076G= | CA1435766805 | WFS1 | c.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=) | |
4 | g.6289076G>T | CA356171599 | WFS1 | c.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 |
4 | g.6289077C>A | CA356171601 | WFS1 | c.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) | |
4 | g.6289077C>G | CA356171604 | WFS1 | c.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) | |
4 | g.6289077C>T | CA356171606 | WFS1 | c.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) | |
4 | g.6289078A= | CA1435766808 | WFS1 | c.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=) | |
4 | g.6289078A>C | CA356171608 | WFS1 | c.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) | |
4 | g.6289078A>G | CA356171610 | WFS1 | c.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) | |
4 | g.6289078A>T | CA356171611 | WFS1 | c.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) | |
4 | g.6289079G>A | CA438210833 | WFS1 | c.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 |
4 | g.6289079G>C | CA356171617 | WFS1 | c.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) | |
4 | g.6289079G= | CA1435766818 | WFS1 | c.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=) | |
4 | g.6289079G>T | CA356171618 | WFS1 | c.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) | |
4 | g.6289080_6289095dup | CA253196 | WFS1 | c.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 |
4 | g.6289080G>A | CA356171621 | WFS1 | c.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) | |
4 | g.6289080G>C | CA356171623 | WFS1 | c.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) | |
4 | g.6289080G>T | CA356171624 | WFS1 | c.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) | |
4 | g.6289081G>A | CA356171631 | WFS1 | c.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) | |
4 | g.6289081G>C | CA356171627 | WFS1 | c.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) | |
4 | g.6289081G>T | CA356171629 | WFS1 | c.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) | |
4 | g.6289081_6289082delinsGC | CA1435766822 | WFS1 | c.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=) | |
4 | g.6289082C>A | CA438210836 | WFS1 | c.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 |
4 | g.6289082C>G | CA438210837 | WFS1 | c.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=) | |
4 | g.6289082C>T | CA438210838 | WFS1 | c.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=) | |
4 | g.6289083del | CA1435766824 | WFS1 | c.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 |
4 | g.6289083C>A | CA356171633 | WFS1 | c.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) | |
4 | g.6289083C= | CA1435766828 | WFS1 | c.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=) | |
4 | g.6289083C>G | CA356171635 | WFS1 | c.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 |
4 | g.6289083C>T | CA2838886 | WFS1 | c.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 |
4 | g.6289084G>A | CA2838887 | WFS1 | c.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 |
4 | g.6289084G>C | CA356171638 | WFS1 | c.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) | |
4 | g.6289084G= | CA1435766831 | WFS1 | c.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=) | |
4 | g.6289084G>T | CA356171640 | WFS1 | c.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 |
4 | g.6289085T>A | CA438210840 | WFS1 | c.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=) | |
4 | g.6289085T>C | CA438210841 | WFS1 | c.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=) | |
4 | g.6289085T>G | CA438210842 | WFS1 | c.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=) | |
4 | g.6289086C>A | CA356171642 | WFS1 | c.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) | |
4 | g.6289086C= | CA1435766837 | WFS1 | c.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=) | |
4 | g.6289086C>G | CA356171644 | WFS1 | c.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) | |
4 | g.6289086C>T | CA356171646 | WFS1 | c.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 |
4 | g.6289087G>A | CA2838888 | WFS1 | c.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 |
4 | g.6289087G>C | CA356171649 | WFS1 | c.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) | |
4 | g.6289087G= | CA1435766838 | WFS1 | c.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=) | |
4 | g.6289087G>T | CA356171651 | WFS1 | c.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 |
4 | g.6289088C>A | CA438210844 | WFS1 | c.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=) | |
4 | g.6289088C= | CA1435766845 | WFS1 | c.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=) | |
4 | g.6289088C>G | CA2838889 | WFS1 | c.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 |
4 | g.6289088C>T | CA2838890 | WFS1 | c.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 |
4 | g.6289089G>A | CA91794313 | WFS1 | c.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 |
4 | g.6289089G>C | CA356171658 | WFS1 | c.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) | |
4 | g.6289089G= | CA1435766858 | WFS1 | c.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=) | |
4 | g.6289089G>T | CA356171656 | WFS1 | c.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) | |
4 | g.6289090A= | CA1435766861 | WFS1 | c.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=) | |
4 | g.6289090A>C | CA356171660 | WFS1 | c.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) | |
4 | g.6289090A>G | CA356171662 | WFS1 | c.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) | |
4 | g.6289090A>T | CA356171664 | WFS1 | c.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 |
4 | g.6289091G>A | CA438210845 | WFS1 | c.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=) | |
4 | g.6289091G>C | CA356171665 | WFS1 | c.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) | |
4 | g.6289091G>T | CA356171666 | WFS1 | c.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) | |
4 | g.6289092G>A | CA356171673 | WFS1 | c.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) | |
4 | g.6289092G>C | CA356171671 | WFS1 | c.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) | |
4 | g.6289092G>T | CA356171669 | WFS1 | c.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 |
4 | g.6289093C>A | CA356171675 | WFS1 | c.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 |
4 | g.6289093C>G | CA356171677 | WFS1 | c.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) | |
4 | g.6289093C>T | CA356171678 | WFS1 | c.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) | |
4 | g.6289094T>A | CA438210847 | WFS1 | c.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=) | |
4 | g.6289094T>C | CA438210848 | WFS1 | c.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 |
4 | g.6289094T>G | CA438210849 | WFS1 | c.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=) | |
4 | g.6289095del | CA2760285118 | WFS1 | c.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) | |
4 | g.6289095G>A | CA356171680 | WFS1 | c.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 |
4 | g.6289095G>C | CA91794314 | WFS1 | c.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 |
4 | g.6289095G= | CA1435766864 | WFS1 | c.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=) | |
4 | g.6289095G>T | CA2838891 | WFS1 | c.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 |
4 | g.6289096T>A | CA356171684 | WFS1 | c.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 |
4 | g.6289096T>C | CA356171688 | WFS1 | c.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 |
4 | g.6289096T>G | CA356171686 | WFS1 | c.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) | |
4 | g.6289096T= | CA1435766868 | WFS1 | c.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=) | |
4 | g.6289097G>A | CA438210851 | WFS1 | c.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 |
4 | g.6289097G>C | CA438210852 | WFS1 | c.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=) | |
4 | g.6289097G>T | CA438210853 | WFS1 | c.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 |
4 | g.6289098A>C | CA356171690 | WFS1 | c.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 |
4 | g.6289098A>G | CA356171692 | WFS1 | c.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 |
4 | g.6289098A>T | CA356171694 | WFS1 | c.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) | |
4 | g.6289099A>C | CA356171697 | WFS1 | c.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) | |
4 | g.6289099A>G | CA356171699 | WFS1 | c.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 |
4 | g.6289099A>T | CA356171700 | WFS1 | c.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) | |
4 | g.6289100G>A | CA438210856 | WFS1 | c.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 |
4 | g.6289100G>C | CA356171703 | WFS1 | c.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) | |
4 | g.6289100G>T | CA356171705 | WFS1 | c.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) | |
4 | g.6289101C>A | CA356171707 | WFS1 | c.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 |
4 | g.6289101C>G | CA356171709 | WFS1 | c.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 |
4 | g.6289101C>T | CA438210857 | WFS1 | c.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 |
4 | g.6289102T>A | CA356171715 | WFS1 | c.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) | |
4 | g.6289102T>C | CA356171713 | WFS1 | c.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) | |
4 | g.6289102T>G | CA356171711 | WFS1 | c.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) | |
4 | g.6289103G>A | CA91794315 | WFS1 | c.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 |
4 | g.6289103G>C | CA438210858 | WFS1 | c.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=) | |
4 | g.6289103G= | CA1435766872 | WFS1 | c.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=) | |
4 | g.6289103G>T | CA438210859 | WFS1 | c.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 |
4 | g.6289104C>A | CA356171718 | WFS1 | c.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 |
4 | g.6289104C= | CA1435766878 | WFS1 | c.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=) | |
4 | g.6289104C>G | CA356171720 | WFS1 | c.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) | |
4 | g.6289104C>T | CA356171721 | WFS1 | c.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 |
4 | g.6289105T>A | CA356171724 | WFS1 | c.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) | |
4 | g.6289105T>C | CA356171726 | WFS1 | c.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) | |
4 | g.6289105T>G | CA356171728 | WFS1 | c.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) | |
4 | g.6289106T>A | CA438210863 | WFS1 | c.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=) | |
4 | g.6289106T>C | CA438210864 | WFS1 | c.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=) | |
4 | g.6289106T>G | CA438210865 | WFS1 | c.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=) | |
4 | g.6289107C>A | CA356171730 | WFS1 | c.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 |
4 | g.6289107C= | CA1435766890 | WFS1 | c.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=) | |
4 | g.6289107C>G | CA356171732 | WFS1 | c.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 |
4 | g.6289107C>T | CA356171734 | WFS1 | c.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 |
4 | g.6289108G>A | CA2838892 | WFS1 | c.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 |
4 | g.6289108G>C | CA356171737 | WFS1 | c.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) | |
4 | g.6289108G= | CA1435766894 | WFS1 | c.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=) | |
4 | g.6289108G>T | CA91794316 | WFS1 | c.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 |
4 | g.6289108_6289109delinsGC | CA1435766899 | WFS1 | c.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=) | |
4 | g.6289109C>A | CA438210867 | WFS1 | c.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=) | |
4 | g.6289109C>G | CA438210868 | WFS1 | c.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 |
4 | g.6289109C>T | CA438210869 | WFS1 | c.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 |
4 | g.6289110del | CA913189921 | WFS1 | c.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 |
4 | g.6289110C>A | CA438210870 | WFS1 | c.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 |
4 | g.6289110C= | CA1435766908 | WFS1 | c.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=) | |
4 | g.6289110C>G | CA356171740 | WFS1 | c.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) | |
4 | g.6289110C>T | CA2838893 | WFS1 | c.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 |
4 | g.6289111G>A | CA91794317 | WFS1 | c.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 |
4 | g.6289111G>C | CA356171743 | WFS1 | c.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 |
4 | g.6289111G= | CA1435766910 | WFS1 | c.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=) | |
4 | g.6289111G>T | CA356171745 | WFS1 | c.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 |
4 | g.6289112G>A | CA438210872 | WFS1 | c.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 |
4 | g.6289112G>C | CA91794318 | WFS1 | c.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 |
4 | g.6289112G= | CA1435766913 | WFS1 | c.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=) | |
4 | g.6289112G>T | CA438210873 | WFS1 | c.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=) | |
4 | g.6289113T>A | CA356171747 | WFS1 | c.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) | |
4 | g.6289113T>C | CA356171749 | WFS1 | c.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) | |
4 | g.6289113T>G | CA356171751 | WFS1 | c.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 |
4 | g.6289113T= | CA1435766919 | WFS1 | c.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=) | |
4 | g.6289114G>A | CA356171753 | WFS1 | c.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 |
4 | g.6289114G>C | CA356171755 | WFS1 | c.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 |
4 | g.6289114G= | CA1435766921 | WFS1 | c.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=) | |
4 | g.6289114G>T | CA356171757 | WFS1 | c.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 |
4 | g.6289115C>A | CA356171760 | WFS1 | c.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 |
4 | g.6289115C= | CA1435766927 | WFS1 | c.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=) | |
4 | g.6289115C>G | CA356171762 | WFS1 | c.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) | |
4 | g.6289115C>T | CA91794319 | WFS1 | c.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 |
4 | g.6289116T>A | CA356171763 | WFS1 | c.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) | |
4 | g.6289116T>C | CA438210874 | WFS1 | c.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 |
4 | g.6289116T>G | CA356171765 | WFS1 | c.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 |
4 | g.6289116T= | CA1435766932 | WFS1 | c.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=) | |
4 | g.6289117T>A | CA356171768 | WFS1 | c.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) | |
4 | g.6289117T>C | CA356171771 | WFS1 | c.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) | |
4 | g.6289117T>G | CA356171769 | WFS1 | c.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) | |
4 | g.6289118G>A | CA438210876 | WFS1 | c.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=) | |
4 | g.6289118G>C | CA356171773 | WFS1 | c.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) | |
4 | g.6289118G>T | CA356171775 | WFS1 | c.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 |
4 | g.6289119G>A | CA356171777 | WFS1 | c.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 |
4 | g.6289119G>C | CA356171781 | WFS1 | c.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) | |
4 | g.6289119G>T | CA356171779 | WFS1 | c.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 |
4 | g.6289120C>A | CA356171784 | WFS1 | c.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 |
4 | g.6289120C= | CA1435766937 | WFS1 | c.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=) | |
4 | g.6289120C>G | CA356171786 | WFS1 | c.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) | |
4 | g.6289120C>T | CA182610 | WFS1 | c.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 |
4 | g.6289121G>A | CA2838894 | WFS1 | c.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 |
4 | g.6289121G>C | CA438210879 | WFS1 | c.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 |
4 | g.6289121G= | CA1435766944 | WFS1 | c.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=) | |
4 | g.6289121G>T | CA438210880 | WFS1 | c.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 |
4 | g.6289122G>A | CA356171792 | WFS1 | c.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 |
4 | g.6289122G>C | CA356171790 | WFS1 | c.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) | |
4 | g.6289122G= | CA1435766948 | WFS1 | c.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=) | |
4 | g.6289122G>T | CA356171794 | WFS1 | c.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 |
4 | g.6289123A>C | CA356171796 | WFS1 | c.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) | |
4 | g.6289123A>G | CA356171798 | WFS1 | c.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 |
4 | g.6289123A>T | CA356171797 | WFS1 | c.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 |
4 | g.6289124C>A | CA356171799 | WFS1 | c.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 |
4 | g.6289124C= | CA1435766954 | WFS1 | c.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=) | |
4 | g.6289124C>G | CA356171800 | WFS1 | c.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) | |
4 | g.6289124C>T | CA438210882 | WFS1 | c.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 |
4 | g.6289124_6289131del | CA2586973592 | WFS1 | c.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?) | |
4 | g.6289125A= | CA1435766959 | WFS1 | c.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=) | |
4 | g.6289125A>C | CA438210883 | WFS1 | c.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=) | |
4 | g.6289125A>G | CA2838895 | WFS1 | c.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 |
4 | g.6289125A>T | CA356171801 | WFS1 | c.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) | |
4 | g.6289126G>A | CA356171802 | WFS1 | c.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 |
4 | g.6289126G>C | CA356171803 | WFS1 | c.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) | |
4 | g.6289126G>T | CA356171804 | WFS1 | c.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 |
4 | g.6289127A= | CA1435766964 | WFS1 | c.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=) | |
4 | g.6289127A>C | CA356171805 | WFS1 | c.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) | |
4 | g.6289127A>G | CA438210885 | WFS1 | c.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 |
4 | g.6289127A>T | CA356171806 | WFS1 | c.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 |
4 | g.6289128A= | CA1435766968 | WFS1 | c.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=) | |
4 | g.6289128A>C | CA438210886 | WFS1 | c.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 |
4 | g.6289128A>G | CA356171807 | WFS1 | c.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) | |
4 | g.6289128A>T | CA356171808 | WFS1 | c.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 |
4 | g.6289129G>A | CA356171811 | WFS1 | c.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) | |
4 | g.6289129G>C | CA356171810 | WFS1 | c.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) | |
4 | g.6289129G= | CA1435766973 | WFS1 | c.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=) | |
4 | g.6289129G>T | CA356171809 | WFS1 | c.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 |
4 | g.6289130A>C | CA356171812 | WFS1 | c.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) | |
4 | g.6289130A>G | CA438210888 | WFS1 | c.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 |
4 | g.6289130A>T | CA356171813 | WFS1 | c.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) | |
4 | g.6289131G>A | CA356171814 | WFS1 | c.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 |
4 | g.6289131G>C | CA356171815 | WFS1 | c.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) | |
4 | g.6289131G>T | CA356171816 | WFS1 | c.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) | |
4 | g.6289132G>A | CA356171817 | WFS1 | c.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 |
4 | g.6289132G>C | CA356171818 | WFS1 | c.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 |
4 | g.6289132G= | CA1435766979 | WFS1 | c.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=) | |
4 | g.6289132G>T | CA356171819 | WFS1 | c.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 |
4 | g.6289133T>A | CA356171820 | WFS1 | c.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) | |
4 | g.6289133T>C | CA356171821 | WFS1 | c.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) | |
4 | g.6289133T>G | CA356171822 | WFS1 | c.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) | |
4 | g.6289134G>A | CA2669825536 | WFS1 | c.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 |
4 | g.6289134G>T | CA2669825537 | WFS1 | c.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 |
4 | g.6289135G>A | CA2838896 | WFS1 | c.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 |
4 | g.6289135G= | CA1435766981 | WFS1 | c.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=) | |
4 | g.6289135G>T | CA2669825538 | WFS1 | c.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 |
4 | g.6289136G>A | CA2580071764 | WFS1 | c.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 |
4 | g.6289136G>T | CA2669825539 | WFS1 | c.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 |
4 | g.6289137T>C | CA1435766985 | WFS1 | c.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 |
4 | g.6289137T>G | CA1435766986 | WFS1 | c.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 |
4 | g.6289137T= | CA1435766984 | WFS1 | c.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=) | |
4 | g.6289138C>A | CA797126149 | WFS1 | c.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 |
4 | g.6289138C= | CA1435766987 | WFS1 | c.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=) | |
4 | g.6289138C>T | CA2669825540 | WFS1 | c.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 |
4 | g.6289139T>A | CA2669825541 | WFS1 | c.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 |
4 | g.6289140G>A | CA2669825542 | WFS1 | c.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 |
4 | g.6289140G>T | CA2669825543 | WFS1 | c.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 |
4 | g.6289141T>C | CA2669825544 | WFS1 | c.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 |
4 | g.6289141T>G | CA797126151 | WFS1 | c.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 |
4 | g.6289141T= | CA1435766990 | WFS1 | c.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=) | |
4 | g.6289142G>A | CA2838897 | WFS1 | c.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 |
4 | g.6289142G>C | CA549422973 | WFS1 | c.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 |
4 | g.6289142G= | CA1435766993 | WFS1 | c.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=) | |
4 | g.6289142G>T | CA2669825545 | WFS1 | c.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 |
4 | g.6289143T>C | CA2669825546 | WFS1 | c.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 |
4 | g.6289144G>A | CA2838898 | WFS1 | c.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 |
4 | g.6289144G= | CA1435766997 | WFS1 | c.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=) | |
4 | g.6289144G>T | CA2669825547 | WFS1 | c.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 |
4 | g.6289145del | CA2580071765 | WFS1 | c.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 |
4 | g.6289145A>G | CA2669825548 | WFS1 | c.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 |
4 | g.6289145A>T | CA2669825549 | WFS1 | c.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 |
4 | g.6289146G>A | CA549422974 | WFS1 | c.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 |
4 | g.6289146G= | CA1435767000 | WFS1 | c.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=) | |
4 | g.6289146G>T | CA2669825550 | WFS1 | c.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 |
4 | g.6289147G>A | CA2669825551 | WFS1 | c.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 |
4 | g.6289147G= | CA1435767003 | WFS1 | c.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=) | |
4 | g.6289147G>T | CA91794320 | WFS1 | c.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 |