Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.6288948delCA2669825509WFS1c.316-39del (n.316-39del)
c.306-39del
c.67-39del (n.67-39del)
c.115-39del (n.115-39del)
c.190-39del (n.190-39del)
n.462del
c.325-39del (n.325-39del)
gnomAD v4
4g.6288947G>CCA2838853WFS1c.316-40G>C (n.316-40G>C)
c.306-40G>C
c.67-40G>C (n.67-40G>C)
c.115-40G>C (n.115-40G>C)
c.190-40G>C (n.190-40G>C)
n.461G>C
c.325-40G>C (n.325-40G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6288947G=CA1435766481WFS1c.316-40G= (n.316-40G=)
c.306-40G=
c.67-40G= (n.67-40G=)
c.115-40G= (n.115-40G=)
c.190-40G= (n.190-40G=)
n.461G=
c.325-40G= (n.325-40G=)
4g.6288948G>ACA2669825512WFS1c.316-39G>A (n.316-39G>A)
c.306-39G>A
c.67-39G>A (n.67-39G>A)
c.115-39G>A (n.115-39G>A)
c.190-39G>A (n.190-39G>A)
n.462G>A
c.325-39G>A (n.325-39G>A)
gnomAD v4
4g.6288949T>GCA2669825513WFS1c.316-38T>G (n.316-38T>G)
c.306-38T>G
c.67-38T>G (n.67-38T>G)
c.115-38T>G (n.115-38T>G)
c.190-38T>G (n.190-38T>G)
n.463T>G
c.325-38T>G (n.325-38T>G)
gnomAD v4
4g.6288950C>ACA91794303WFS1c.316-37C>A (n.316-37C>A)
c.306-37C>A
c.67-37C>A (n.67-37C>A)
c.115-37C>A (n.115-37C>A)
c.190-37C>A (n.190-37C>A)
n.464C>A
c.325-37C>A (n.325-37C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6288950C=CA1435766482WFS1c.316-37C= (n.316-37C=)
c.306-37C=
c.67-37C= (n.67-37C=)
c.115-37C= (n.115-37C=)
c.190-37C= (n.190-37C=)
n.464C=
c.325-37C= (n.325-37C=)
4g.6288950C>GCA549422602WFS1c.316-37C>G (n.316-37C>G)
c.306-37C>G
c.67-37C>G (n.67-37C>G)
c.115-37C>G (n.115-37C>G)
c.190-37C>G (n.190-37C>G)
n.464C>G
c.325-37C>G (n.325-37C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6288950C>TCA2838854WFS1c.316-37C>T (n.316-37C>T)
c.306-37C>T
c.67-37C>T (n.67-37C>T)
c.115-37C>T (n.115-37C>T)
c.190-37C>T (n.190-37C>T)
n.464C>T
c.325-37C>T (n.325-37C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6288951G>ACA2838855WFS1c.316-36G>A (n.316-36G>A)
c.306-36G>A
c.67-36G>A (n.67-36G>A)
c.115-36G>A (n.115-36G>A)
c.190-36G>A (n.190-36G>A)
n.465G>A
c.325-36G>A (n.325-36G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6288951G=CA1435766486WFS1c.316-36G= (n.316-36G=)
c.306-36G=
c.67-36G= (n.67-36G=)
c.115-36G= (n.115-36G=)
c.190-36G= (n.190-36G=)
n.465G=
c.325-36G= (n.325-36G=)
4g.6288952G>CCA549422605WFS1c.316-35G>C (n.316-35G>C)
c.306-35G>C
c.67-35G>C (n.67-35G>C)
c.115-35G>C (n.115-35G>C)
c.190-35G>C (n.190-35G>C)
n.466G>C
c.325-35G>C (n.325-35G>C)
dbSNP gnomAD v2 gnomAD v4
4g.6288952G=CA1435766487WFS1c.316-35G= (n.316-35G=)
c.306-35G=
c.67-35G= (n.67-35G=)
c.115-35G= (n.115-35G=)
c.190-35G= (n.190-35G=)
n.466G=
c.325-35G= (n.325-35G=)
4g.6288952G>TCA2669825514WFS1c.316-35G>T (n.316-35G>T)
c.306-35G>T
c.67-35G>T (n.67-35G>T)
c.115-35G>T (n.115-35G>T)
c.190-35G>T (n.190-35G>T)
n.466G>T
c.325-35G>T (n.325-35G>T)
gnomAD v4
4g.6288954G>ACA2669825515WFS1c.316-33G>A (n.316-33G>A)
c.306-33G>A
c.67-33G>A (n.67-33G>A)
c.115-33G>A (n.115-33G>A)
c.190-33G>A (n.190-33G>A)
n.468G>A
c.325-33G>A (n.325-33G>A)
gnomAD v4
4g.6288954G>CCA2838856WFS1c.316-33G>C (n.316-33G>C)
c.306-33G>C
c.67-33G>C (n.67-33G>C)
c.115-33G>C (n.115-33G>C)
c.190-33G>C (n.190-33G>C)
n.468G>C
c.325-33G>C (n.325-33G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6288954G=CA1435766489WFS1c.316-33G= (n.316-33G=)
c.306-33G=
c.67-33G= (n.67-33G=)
c.115-33G= (n.115-33G=)
c.190-33G= (n.190-33G=)
n.468G=
c.325-33G= (n.325-33G=)
4g.6288954G>TCA2669825516WFS1c.316-33G>T (n.316-33G>T)
c.306-33G>T
c.67-33G>T (n.67-33G>T)
c.115-33G>T (n.115-33G>T)
c.190-33G>T (n.190-33G>T)
n.468G>T
c.325-33G>T (n.325-33G>T)
gnomAD v4
4g.6288955A=CA1435766491WFS1c.316-32A= (n.316-32A=)
c.306-32A=
c.67-32A= (n.67-32A=)
c.115-32A= (n.115-32A=)
c.190-32A= (n.190-32A=)
n.469A=
c.325-32A= (n.325-32A=)
4g.6288955A>CCA549422606WFS1c.316-32A>C (n.316-32A>C)
c.306-32A>C
c.67-32A>C (n.67-32A>C)
c.115-32A>C (n.115-32A>C)
c.190-32A>C (n.190-32A>C)
n.469A>C
c.325-32A>C (n.325-32A>C)
dbSNP gnomAD v2 gnomAD v4
4g.6288955A>GCA2669825517WFS1c.316-32A>G (n.316-32A>G)
c.306-32A>G
c.67-32A>G (n.67-32A>G)
c.115-32A>G (n.115-32A>G)
c.190-32A>G (n.190-32A>G)
n.469A>G
c.325-32A>G (n.325-32A>G)
gnomAD v4
4g.6288956A>GCA2669825518WFS1c.316-31A>G (n.316-31A>G)
c.306-31A>G
c.67-31A>G (n.67-31A>G)
c.115-31A>G (n.115-31A>G)
c.190-31A>G (n.190-31A>G)
n.470A>G
c.325-31A>G (n.325-31A>G)
gnomAD v4
4g.6288958C>GCA2578035718WFS1c.316-29C>G (n.316-29C>G)
c.306-29C>G
c.67-29C>G (n.67-29C>G)
c.115-29C>G (n.115-29C>G)
c.190-29C>G (n.190-29C>G)
n.472C>G
c.325-29C>G (n.325-29C>G)
gnomAD v4
4g.6288958C>TCA2669825519WFS1c.316-29C>T (n.316-29C>T)
c.306-29C>T
c.67-29C>T (n.67-29C>T)
c.115-29C>T (n.115-29C>T)
c.190-29C>T (n.190-29C>T)
n.472C>T
c.325-29C>T (n.325-29C>T)
dbSNP gnomAD v4
4g.6288959T>CCA2838857WFS1c.316-28T>C (n.316-28T>C)
c.306-28T>C
c.67-28T>C (n.67-28T>C)
c.115-28T>C (n.115-28T>C)
c.190-28T>C (n.190-28T>C)
n.473T>C
c.325-28T>C (n.325-28T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6288959T=CA1435766492WFS1c.316-28T= (n.316-28T=)
c.306-28T=
c.67-28T= (n.67-28T=)
c.115-28T= (n.115-28T=)
c.190-28T= (n.190-28T=)
n.473T=
c.325-28T= (n.325-28T=)
4g.6288960G>TCA2669825520WFS1c.316-27G>T (n.316-27G>T)
c.306-27G>T
c.67-27G>T (n.67-27G>T)
c.115-27G>T (n.115-27G>T)
c.190-27G>T (n.190-27G>T)
n.474G>T
c.325-27G>T (n.325-27G>T)
gnomAD v4
4g.6288963G>ACA549422607WFS1c.316-24G>A (n.316-24G>A)
c.306-24G>A
c.67-24G>A (n.67-24G>A)
c.115-24G>A (n.115-24G>A)
c.190-24G>A (n.190-24G>A)
n.477G>A
c.325-24G>A (n.325-24G>A)
dbSNP gnomAD v2
4g.6288963G=CA1435766493WFS1c.316-24G= (n.316-24G=)
c.306-24G=
c.67-24G= (n.67-24G=)
c.115-24G= (n.115-24G=)
c.190-24G= (n.190-24G=)
n.477G=
c.325-24G= (n.325-24G=)
4g.6288963G>TCA2838858WFS1c.316-24G>T (n.316-24G>T)
c.306-24G>T
c.67-24G>T (n.67-24G>T)
c.115-24G>T (n.115-24G>T)
c.190-24G>T (n.190-24G>T)
n.477G>T
c.325-24G>T (n.325-24G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6288964G>CCA2838859WFS1c.316-23G>C (n.316-23G>C)
c.306-23G>C
c.67-23G>C (n.67-23G>C)
c.115-23G>C (n.115-23G>C)
c.190-23G>C (n.190-23G>C)
n.478G>C
c.325-23G>C (n.325-23G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6288964G=CA1435766498WFS1c.316-23G= (n.316-23G=)
c.306-23G=
c.67-23G= (n.67-23G=)
c.115-23G= (n.115-23G=)
c.190-23G= (n.190-23G=)
n.478G=
c.325-23G= (n.325-23G=)
4g.6288964G>TCA2669825521WFS1c.316-23G>T (n.316-23G>T)
c.306-23G>T
c.67-23G>T (n.67-23G>T)
c.115-23G>T (n.115-23G>T)
c.190-23G>T (n.190-23G>T)
n.478G>T
c.325-23G>T (n.325-23G>T)
gnomAD v4
4g.6288965C>ACA2669825522WFS1c.316-22C>A (n.316-22C>A)
c.306-22C>A
c.67-22C>A (n.67-22C>A)
c.115-22C>A (n.115-22C>A)
c.190-22C>A (n.190-22C>A)
n.479C>A
c.325-22C>A (n.325-22C>A)
gnomAD v4
4g.6288965C=CA1435766500WFS1c.316-22C= (n.316-22C=)
c.306-22C=
c.67-22C= (n.67-22C=)
c.115-22C= (n.115-22C=)
c.190-22C= (n.190-22C=)
n.479C=
c.325-22C= (n.325-22C=)
4g.6288965C>TCA1058887544WFS1c.316-22C>T (n.316-22C>T)
c.306-22C>T
c.67-22C>T (n.67-22C>T)
c.115-22C>T (n.115-22C>T)
c.190-22C>T (n.190-22C>T)
n.479C>T
c.325-22C>T (n.325-22C>T)
dbSNP gnomAD v3 gnomAD v4
4g.6288966T>CCA2669825523WFS1c.316-21T>C (n.316-21T>C)
c.306-21T>C
c.67-21T>C (n.67-21T>C)
c.115-21T>C (n.115-21T>C)
c.190-21T>C (n.190-21T>C)
n.480T>C
c.325-21T>C (n.325-21T>C)
gnomAD v4
4g.6288967G>TCA2669825524WFS1c.316-20G>T (n.316-20G>T)
c.306-20G>T
c.67-20G>T (n.67-20G>T)
c.115-20G>T (n.115-20G>T)
c.190-20G>T (n.190-20G>T)
n.481G>T
c.325-20G>T (n.325-20G>T)
gnomAD v4
4g.6288969C>ACA2669825525WFS1c.316-18C>A (n.316-18C>A)
c.306-18C>A
c.67-18C>A (n.67-18C>A)
c.115-18C>A (n.115-18C>A)
c.190-18C>A (n.190-18C>A)
n.483C>A
c.325-18C>A (n.325-18C>A)
gnomAD v4
4g.6288969C=CA1435766501WFS1c.316-18C= (n.316-18C=)
c.306-18C=
c.67-18C= (n.67-18C=)
c.115-18C= (n.115-18C=)
c.190-18C= (n.190-18C=)
n.483C=
c.325-18C= (n.325-18C=)
4g.6288969C>TCA549422609WFS1c.316-18C>T (n.316-18C>T)
c.306-18C>T
c.67-18C>T (n.67-18C>T)
c.115-18C>T (n.115-18C>T)
c.190-18C>T (n.190-18C>T)
n.483C>T
c.325-18C>T (n.325-18C>T)
dbSNP gnomAD v2 gnomAD v4
4g.6288970T>ACA2669825526WFS1c.316-17T>A (n.316-17T>A)
c.306-17T>A
c.67-17T>A (n.67-17T>A)
c.115-17T>A (n.115-17T>A)
c.190-17T>A (n.190-17T>A)
n.484T>A
c.325-17T>A (n.325-17T>A)
gnomAD v4
4g.6288970T>CCA2669825527WFS1c.316-17T>C (n.316-17T>C)
c.306-17T>C
c.67-17T>C (n.67-17T>C)
c.115-17T>C (n.115-17T>C)
c.190-17T>C (n.190-17T>C)
n.484T>C
c.325-17T>C (n.325-17T>C)
gnomAD v4
4g.6288970T>GCA2578035721WFS1c.316-17T>G (n.316-17T>G)
c.306-17T>G
c.67-17T>G (n.67-17T>G)
c.115-17T>G (n.115-17T>G)
c.190-17T>G (n.190-17T>G)
n.484T>G
c.325-17T>G (n.325-17T>G)
4g.6288972G>ACA1058887546WFS1c.316-15G>A (n.316-15G>A)
c.306-15G>A
c.67-15G>A (n.67-15G>A)
c.115-15G>A (n.115-15G>A)
c.190-15G>A (n.190-15G>A)
n.486G>A
c.325-15G>A (n.325-15G>A)
dbSNP gnomAD v3 gnomAD v4
4g.6288972G>CCA91794304WFS1c.316-15G>C (n.316-15G>C)
c.306-15G>C
c.67-15G>C (n.67-15G>C)
c.115-15G>C (n.115-15G>C)
c.190-15G>C (n.190-15G>C)
n.486G>C
c.325-15G>C (n.325-15G>C)
dbSNP gnomAD v4
4g.6288972G=CA1435766504WFS1c.316-15G= (n.316-15G=)
c.306-15G=
c.67-15G= (n.67-15G=)
c.115-15G= (n.115-15G=)
c.190-15G= (n.190-15G=)
n.486G=
c.325-15G= (n.325-15G=)
4g.6288973delCA2669825528WFS1c.316-14del (n.316-14del)
c.306-14del
c.67-14del (n.67-14del)
c.115-14del (n.115-14del)
c.190-14del (n.190-14del)
n.487del
c.325-14del (n.325-14del)
gnomAD v4
4g.6288973T>CCA16604624WFS1c.316-14T>C (n.316-14T>C)
c.306-14T>C
c.67-14T>C (n.67-14T>C)
c.115-14T>C (n.115-14T>C)
c.190-14T>C (n.190-14T>C)
n.487T>C
c.325-14T>C (n.325-14T>C)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6288973T>GCA2838860WFS1c.316-14T>G (n.316-14T>G)
c.306-14T>G
c.67-14T>G (n.67-14T>G)
c.115-14T>G (n.115-14T>G)
c.190-14T>G (n.190-14T>G)
n.487T>G
c.325-14T>G (n.325-14T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6288973T=CA1435766507WFS1c.316-14T= (n.316-14T=)
c.306-14T=
c.67-14T= (n.67-14T=)
c.115-14T= (n.115-14T=)
c.190-14T= (n.190-14T=)
n.487T=
c.325-14T= (n.325-14T=)
4g.6288974G>ACA2669825529WFS1c.316-13G>A (n.316-13G>A)
c.306-13G>A
c.67-13G>A (n.67-13G>A)
c.115-13G>A (n.115-13G>A)
c.190-13G>A (n.190-13G>A)
n.488G>A
c.325-13G>A (n.325-13G>A)
gnomAD v4
4g.6288975T>ACA1435766514WFS1c.316-12T>A (n.316-12T>A)
c.306-12T>A
c.67-12T>A (n.67-12T>A)
c.115-12T>A (n.115-12T>A)
c.190-12T>A (n.190-12T>A)
n.489T>A
c.325-12T>A (n.325-12T>A)
dbSNP
4g.6288975T=CA1435766513WFS1c.316-12T= (n.316-12T=)
c.306-12T=
c.67-12T= (n.67-12T=)
c.115-12T= (n.115-12T=)
c.190-12T= (n.190-12T=)
n.489T=
c.325-12T= (n.325-12T=)
4g.6288978G>ACA549422610WFS1c.316-9G>A (n.316-9G>A)
c.306-9G>A
c.67-9G>A (n.67-9G>A)
c.115-9G>A (n.115-9G>A)
c.190-9G>A (n.190-9G>A)
n.492G>A
c.325-9G>A (n.325-9G>A)
dbSNP gnomAD v2 COSMIC
4g.6288978G>CCA2580071755WFS1c.316-9G>C (n.316-9G>C)
c.306-9G>C
c.67-9G>C (n.67-9G>C)
c.115-9G>C (n.115-9G>C)
c.190-9G>C (n.190-9G>C)
n.492G>C
c.325-9G>C (n.325-9G>C)
ClinVar gnomAD v4
4g.6288978G=CA1435766515WFS1c.316-9G= (n.316-9G=)
c.306-9G=
c.67-9G= (n.67-9G=)
c.115-9G= (n.115-9G=)
c.190-9G= (n.190-9G=)
n.492G=
c.325-9G= (n.325-9G=)
4g.6288978G>TCA2669825530WFS1c.316-9G>T (n.316-9G>T)
c.306-9G>T
c.67-9G>T (n.67-9G>T)
c.115-9G>T (n.115-9G>T)
c.190-9G>T (n.190-9G>T)
n.492G>T
c.325-9G>T (n.325-9G>T)
gnomAD v4
4g.6288979G>TCA2669825531WFS1c.316-8G>T (n.316-8G>T)
c.306-8G>T
c.67-8G>T (n.67-8G>T)
c.115-8G>T (n.115-8G>T)
c.190-8G>T (n.190-8G>T)
n.493G>T
c.325-8G>T (n.325-8G>T)
gnomAD v4
4g.6288980C>ACA2838861WFS1c.316-7C>A (n.316-7C>A)
c.306-7C>A
c.67-7C>A (n.67-7C>A)
c.115-7C>A (n.115-7C>A)
c.190-7C>A (n.190-7C>A)
n.494C>A
c.325-7C>A (n.325-7C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6288980C=CA1435766520WFS1c.316-7C= (n.316-7C=)
c.306-7C=
c.67-7C= (n.67-7C=)
c.115-7C= (n.115-7C=)
c.190-7C= (n.190-7C=)
n.494C=
c.325-7C= (n.325-7C=)
4g.6288980C>GCA2838862WFS1c.316-7C>G (n.316-7C>G)
c.306-7C>G
c.67-7C>G (n.67-7C>G)
c.115-7C>G (n.115-7C>G)
c.190-7C>G (n.190-7C>G)
n.494C>G
c.325-7C>G (n.325-7C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6288982T>GCA2838863WFS1c.316-5T>G (n.316-5T>G)
c.306-5T>G
c.67-5T>G (n.67-5T>G)
c.115-5T>G (n.115-5T>G)
c.190-5T>G (n.190-5T>G)
n.496T>G
c.325-5T>G (n.325-5T>G)
dbSNP ExAC gnomAD v4
4g.6288982T=CA1435766523WFS1c.316-5T= (n.316-5T=)
c.306-5T=
c.67-5T= (n.67-5T=)
c.115-5T= (n.115-5T=)
c.190-5T= (n.190-5T=)
n.496T=
c.325-5T= (n.325-5T=)
4g.6288983G>ACA797125763WFS1c.316-4G>A (n.316-4G>A)
c.306-4G>A
c.67-4G>A (n.67-4G>A)
c.115-4G>A (n.115-4G>A)
c.190-4G>A (n.190-4G>A)
n.497G>A
c.325-4G>A (n.325-4G>A)
dbSNP gnomAD v4
4g.6288983G=CA1435766527WFS1c.316-4G= (n.316-4G=)
c.306-4G=
c.67-4G= (n.67-4G=)
c.115-4G= (n.115-4G=)
c.190-4G= (n.190-4G=)
n.497G=
c.325-4G= (n.325-4G=)
4g.6288983G>TCA2669825532WFS1c.316-4G>T (n.316-4G>T)
c.306-4G>T
c.67-4G>T (n.67-4G>T)
c.115-4G>T (n.115-4G>T)
c.190-4G>T (n.190-4G>T)
n.497G>T
c.325-4G>T (n.325-4G>T)
gnomAD v4
4g.6288984C=CA1435766528WFS1c.316-3C= (n.316-3C=)
c.306-3C=
c.67-3C= (n.67-3C=)
c.115-3C= (n.115-3C=)
c.190-3C= (n.190-3C=)
n.498C=
c.325-3C= (n.325-3C=)
4g.6288984C>TCA1435766529WFS1c.316-3C>T (n.316-3C>T)
c.306-3C>T
c.67-3C>T (n.67-3C>T)
c.115-3C>T (n.115-3C>T)
c.190-3C>T (n.190-3C>T)
n.498C>T
c.325-3C>T (n.325-3C>T)
dbSNP gnomAD v4
4g.6288985A>CCA356171196WFS1c.316-2A>C (n.316-2A>C)
c.306-2A>C
c.67-2A>C (n.67-2A>C)
c.115-2A>C (n.115-2A>C)
c.190-2A>C (n.190-2A>C)
n.499A>C
c.325-2A>C (n.325-2A>C)
4g.6288985A>GCA356171198WFS1c.316-2A>G (n.316-2A>G)
c.306-2A>G
c.67-2A>G (n.67-2A>G)
c.115-2A>G (n.115-2A>G)
c.190-2A>G (n.190-2A>G)
n.499A>G
c.325-2A>G (n.325-2A>G)
ClinVar gnomAD v4
4g.6288985A>TCA356171199WFS1c.316-2A>T (n.316-2A>T)
c.306-2A>T
c.67-2A>T (n.67-2A>T)
c.115-2A>T (n.115-2A>T)
c.190-2A>T (n.190-2A>T)
n.499A>T
c.325-2A>T (n.325-2A>T)
4g.6288986G>ACA356171200WFS1c.316-1G>A (n.316-1G>A)
c.306-1G>A
c.67-1G>A (n.67-1G>A)
c.115-1G>A (n.115-1G>A)
c.190-1G>A (n.190-1G>A)
n.500G>A
c.325-1G>A (n.325-1G>A)
gnomAD v4
4g.6288986G>CCA356171203WFS1c.316-1G>C (n.316-1G>C)
c.306-1G>C
c.67-1G>C (n.67-1G>C)
c.115-1G>C (n.115-1G>C)
c.190-1G>C (n.190-1G>C)
n.500G>C
c.325-1G>C (n.325-1G>C)
4g.6288986G>TCA356171202WFS1c.316-1G>T (n.316-1G>T)
c.306-1G>T
c.67-1G>T (n.67-1G>T)
c.115-1G>T (n.115-1G>T)
c.190-1G>T (n.190-1G>T)
n.500G>T
c.325-1G>T (n.325-1G>T)
4g.6288987G>ACA356171205WFS1c.316G>A (p.Val106Met)
c.306G>A
c.67G>A (p.Val23Met)
c.115G>A (p.Val39Met)
c.190G>A (p.Val64Met)
n.501G>A
c.325G>A (p.Val109Met)
dbSNP gnomAD v2
4g.6288987G>CCA356171207WFS1c.316G>C (p.Val106Leu)
c.306G>C
c.67G>C (p.Val23Leu)
c.115G>C (p.Val39Leu)
c.190G>C (p.Val64Leu)
n.501G>C
c.325G>C (p.Val109Leu)
4g.6288987G=CA1435766532WFS1c.316G= (p.Val106=)
c.306G=
c.67G= (p.Val23=)
c.115G= (p.Val39=)
c.190G= (p.Val64=)
n.501G=
c.325G= (p.Val109=)
4g.6288987G>TCA356171209WFS1c.316G>T (p.Val106Leu)
c.306G>T
c.67G>T (p.Val23Leu)
c.115G>T (p.Val39Leu)
c.190G>T (p.Val64Leu)
n.501G>T
c.325G>T (p.Val109Leu)
gnomAD v4
4g.6288988T>ACA356171211WFS1c.317T>A (p.Val106Glu)
c.307T>A
c.68T>A (p.Val23Glu)
c.116T>A (p.Val39Glu)
c.191T>A (p.Val64Glu)
n.502T>A
c.326T>A (p.Val109Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6288988T>CCA356171213WFS1c.317T>C (p.Val106Ala)
c.307T>C
c.68T>C (p.Val23Ala)
c.116T>C (p.Val39Ala)
c.191T>C (p.Val64Ala)
n.502T>C
c.326T>C (p.Val109Ala)
4g.6288988T>GCA356171214WFS1c.317T>G (p.Val106Gly)
c.307T>G
c.68T>G (p.Val23Gly)
c.116T>G (p.Val39Gly)
c.191T>G (p.Val64Gly)
n.502T>G
c.326T>G (p.Val109Gly)
4g.6288988T=CA1435766537WFS1c.317T= (p.Val106=)
c.307T=
c.68T= (p.Val23=)
c.116T= (p.Val39=)
c.191T= (p.Val64=)
n.502T=
c.326T= (p.Val109=)
4g.6288989G>ACA2838864WFS1c.318G>A (p.Val106=)
c.308G>A
c.69G>A (p.Val23=)
c.117G>A (p.Val39=)
c.192G>A (p.Val64=)
n.503G>A
c.327G>A (p.Val109=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6288989G>CCA438210747WFS1c.318G>C (p.Val106=)
c.308G>C
c.69G>C (p.Val23=)
c.117G>C (p.Val39=)
c.192G>C (p.Val64=)
n.503G>C
c.327G>C (p.Val109=)
4g.6288989G=CA1435766542WFS1c.318G= (p.Val106=)
c.308G=
c.69G= (p.Val23=)
c.117G= (p.Val39=)
c.192G= (p.Val64=)
n.503G=
c.327G= (p.Val109=)
4g.6288989G>TCA438210748WFS1c.318G>T (p.Val106=)
c.308G>T
c.69G>T (p.Val23=)
c.117G>T (p.Val39=)
c.192G>T (p.Val64=)
n.503G>T
c.327G>T (p.Val109=)
4g.6288992dupCA91794305WFS1c.321dup (p.Lys108GlufsTer12)
c.311dup
c.72dup (p.Lys25GlufsTer12)
c.120dup (p.Lys41GlufsTer12)
c.195dup (p.Lys66GlufsTer12)
n.506dup
c.330dup (p.Lys111GlufsTer12)
dbSNP
4g.6288990G>ACA356171218WFS1c.319G>A (p.Gly107Arg)
c.309G>A
c.70G>A (p.Gly24Arg)
c.118G>A (p.Gly40Arg)
c.193G>A (p.Gly65Arg)
n.504G>A
c.328G>A (p.Gly110Arg)
4g.6288990G>CCA356171219WFS1c.319G>C (p.Gly107Arg)
c.309G>C
c.70G>C (p.Gly24Arg)
c.118G>C (p.Gly40Arg)
c.193G>C (p.Gly65Arg)
n.504G>C
c.328G>C (p.Gly110Arg)
4g.6288990G=CA1435766545WFS1c.319G= (p.Gly107=)
c.309G=
c.70G= (p.Gly24=)
c.118G= (p.Gly40=)
c.193G= (p.Gly65=)
n.504G=
c.328G= (p.Gly110=)
4g.6288990G>TCA356171221WFS1c.319G>T (p.Gly107Trp)
c.309G>T
c.70G>T (p.Gly24Trp)
c.118G>T (p.Gly40Trp)
c.193G>T (p.Gly65Trp)
n.504G>T
c.328G>T (p.Gly110Trp)
dbSNP gnomAD v2 gnomAD v4
4g.6288991G>ACA91794306WFS1c.320G>A (p.Gly107Glu)
c.310G>A
c.71G>A (p.Gly24Glu)
c.119G>A (p.Gly40Glu)
c.194G>A (p.Gly65Glu)
n.505G>A
c.329G>A (p.Gly110Glu)
ClinVar dbSNP gnomAD v4
4g.6288991G>CCA356171224WFS1c.320G>C (p.Gly107Ala)
c.310G>C
c.71G>C (p.Gly24Ala)
c.119G>C (p.Gly40Ala)
c.194G>C (p.Gly65Ala)
n.505G>C
c.329G>C (p.Gly110Ala)
4g.6288991G=CA1435766551WFS1c.320G= (p.Gly107=)
c.310G=
c.71G= (p.Gly24=)
c.119G= (p.Gly40=)
c.194G= (p.Gly65=)
n.505G=
c.329G= (p.Gly110=)
4g.6288991G>TCA356171226WFS1c.320G>T (p.Gly107Val)
c.310G>T
c.71G>T (p.Gly24Val)
c.119G>T (p.Gly40Val)
c.194G>T (p.Gly65Val)
n.505G>T
c.329G>T (p.Gly110Val)
4g.6288992G>ACA438210749WFS1c.321G>A (p.Gly107=)
c.311G>A
c.72G>A (p.Gly24=)
c.120G>A (p.Gly40=)
c.195G>A (p.Gly65=)
n.506G>A
c.330G>A (p.Gly110=)
dbSNP
4g.6288992G>CCA438210750WFS1c.321G>C (p.Gly107=)
c.311G>C
c.72G>C (p.Gly24=)
c.120G>C (p.Gly40=)
c.195G>C (p.Gly65=)
n.506G>C
c.330G>C (p.Gly110=)
4g.6288992G=CA1435766560WFS1c.321G= (p.Gly107=)
c.311G=
c.72G= (p.Gly24=)
c.120G= (p.Gly40=)
c.195G= (p.Gly65=)
n.506G=
c.330G= (p.Gly110=)
4g.6288992G>TCA438210751WFS1c.321G>T (p.Gly107=)
c.311G>T
c.72G>T (p.Gly24=)
c.120G>T (p.Gly40=)
c.195G>T (p.Gly65=)
n.506G>T
c.330G>T (p.Gly110=)
4g.6288993A=CA1435766564WFS1c.322A= (p.Lys108=)
c.312A=
c.73A= (p.Lys25=)
c.121A= (p.Lys41=)
c.196A= (p.Lys66=)
n.507A=
c.331A= (p.Lys111=)
4g.6288993A>CCA356171232WFS1c.322A>C (p.Lys108Gln)
c.312A>C
c.73A>C (p.Lys25Gln)
c.121A>C (p.Lys41Gln)
c.196A>C (p.Lys66Gln)
n.507A>C
c.331A>C (p.Lys111Gln)
4g.6288993A>GCA356171228WFS1c.322A>G (p.Lys108Glu)
c.312A>G
c.73A>G (p.Lys25Glu)
c.121A>G (p.Lys41Glu)
c.196A>G (p.Lys66Glu)
n.507A>G
c.331A>G (p.Lys111Glu)
dbSNP gnomAD v3 gnomAD v4
4g.6288993A>TCA356171230WFS1c.322A>T (p.Lys108Ter)
c.312A>T
c.73A>T (p.Lys25Ter)
c.121A>T (p.Lys41Ter)
c.196A>T (p.Lys66Ter)
n.507A>T
c.331A>T (p.Lys111Ter)
4g.6288994A=CA1435766566WFS1c.323A= (p.Lys108=)
c.313A=
c.74A= (p.Lys25=)
c.122A= (p.Lys41=)
c.197A= (p.Lys66=)
n.508A=
c.332A= (p.Lys111=)
4g.6288994A>CCA356171234WFS1c.323A>C (p.Lys108Thr)
c.313A>C
c.74A>C (p.Lys25Thr)
c.122A>C (p.Lys41Thr)
c.197A>C (p.Lys66Thr)
n.508A>C
c.332A>C (p.Lys111Thr)
4g.6288994A>GCA91794307WFS1c.323A>G (p.Lys108Arg)
c.313A>G
c.74A>G (p.Lys25Arg)
c.122A>G (p.Lys41Arg)
c.197A>G (p.Lys66Arg)
n.508A>G
c.332A>G (p.Lys111Arg)
dbSNP gnomAD v4
4g.6288994A>TCA356171237WFS1c.323A>T (p.Lys108Met)
c.313A>T
c.74A>T (p.Lys25Met)
c.122A>T (p.Lys41Met)
c.197A>T (p.Lys66Met)
n.508A>T
c.332A>T (p.Lys111Met)
4g.6288995G>ACA438210752WFS1c.324G>A (p.Lys108=)
c.314G>A
c.75G>A (p.Lys25=)
c.123G>A (p.Lys41=)
c.198G>A (p.Lys66=)
n.509G>A
c.333G>A (p.Lys111=)
dbSNP gnomAD v2 gnomAD v4
4g.6288995G>CCA356171239WFS1c.324G>C (p.Lys108Asn)
c.314G>C
c.75G>C (p.Lys25Asn)
c.123G>C (p.Lys41Asn)
c.198G>C (p.Lys66Asn)
n.509G>C
c.333G>C (p.Lys111Asn)
4g.6288995G=CA1435766569WFS1c.324G= (p.Lys108=)
c.314G=
c.75G= (p.Lys25=)
c.123G= (p.Lys41=)
c.198G= (p.Lys66=)
n.509G=
c.333G= (p.Lys111=)
4g.6288995G>TCA356171241WFS1c.324G>T (p.Lys108Asn)
c.314G>T
c.75G>T (p.Lys25Asn)
c.123G>T (p.Lys41Asn)
c.198G>T (p.Lys66Asn)
n.509G>T
c.333G>T (p.Lys111Asn)
gnomAD v4 COSMIC
4g.6288996C>ACA356171243WFS1c.325C>A (p.His109Asn)
c.315C>A
c.76C>A (p.His26Asn)
c.124C>A (p.His42Asn)
c.199C>A (p.His67Asn)
n.510C>A
c.334C>A (p.His112Asn)
dbSNP gnomAD v2 gnomAD v4
4g.6288996C=CA1435766573WFS1c.325C= (p.His109=)
c.315C=
c.76C= (p.His26=)
c.124C= (p.His42=)
c.199C= (p.His67=)
n.510C=
c.334C= (p.His112=)
4g.6288996C>GCA356171245WFS1c.325C>G (p.His109Asp)
c.315C>G
c.76C>G (p.His26Asp)
c.124C>G (p.His42Asp)
c.199C>G (p.His67Asp)
n.510C>G
c.334C>G (p.His112Asp)
4g.6288996C>TCA179631WFS1c.325C>T (p.His109Tyr)
c.315C>T
c.76C>T (p.His26Tyr)
c.124C>T (p.His42Tyr)
c.199C>T (p.His67Tyr)
n.510C>T
c.334C>T (p.His112Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6288997_6288998dupCA2669825533WFS1c.326_327dup (p.Tyr110ThrfsTer?)
c.316_317dup
c.77_78dup (p.Tyr27ThrfsTer?)
c.125_126dup (p.Tyr43ThrfsTer?)
c.200_201dup (p.Tyr68ThrfsTer?)
n.511_512dup
c.335_336dup (p.Tyr113ThrfsTer?)
gnomAD v4
4g.6288997A=CA1435766576WFS1c.326A= (p.His109=)
c.316A=
c.77A= (p.His26=)
c.125A= (p.His42=)
c.200A= (p.His67=)
n.511A=
c.335A= (p.His112=)
4g.6288997A>CCA356171247WFS1c.326A>C (p.His109Pro)
c.316A>C
c.77A>C (p.His26Pro)
c.125A>C (p.His42Pro)
c.200A>C (p.His67Pro)
n.511A>C
c.335A>C (p.His112Pro)
4g.6288997A>GCA2838865WFS1c.326A>G (p.His109Arg)
c.316A>G
c.77A>G (p.His26Arg)
c.125A>G (p.His42Arg)
c.200A>G (p.His67Arg)
n.511A>G
c.335A>G (p.His112Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6288997A>TCA356171249WFS1c.326A>T (p.His109Leu)
c.316A>T
c.77A>T (p.His26Leu)
c.125A>T (p.His42Leu)
c.200A>T (p.His67Leu)
n.511A>T
c.335A>T (p.His112Leu)
4g.6288998C>ACA356171251WFS1c.327C>A (p.His109Gln)
c.317C>A
c.78C>A (p.His26Gln)
c.126C>A (p.His42Gln)
c.201C>A (p.His67Gln)
n.512C>A
c.336C>A (p.His112Gln)
4g.6288998C>GCA356171252WFS1c.327C>G (p.His109Gln)
c.317C>G
c.78C>G (p.His26Gln)
c.126C>G (p.His42Gln)
c.201C>G (p.His67Gln)
n.512C>G
c.336C>G (p.His112Gln)
4g.6288998C>TCA438210753WFS1c.327C>T (p.His109=)
c.317C>T
c.78C>T (p.His26=)
c.126C>T (p.His42=)
c.201C>T (p.His67=)
n.512C>T
c.336C>T (p.His112=)
ClinVar
4g.6288999T>ACA356171254WFS1c.328T>A (p.Tyr110Asn)
c.318T>A
c.79T>A (p.Tyr27Asn)
c.127T>A (p.Tyr43Asn)
c.202T>A (p.Tyr68Asn)
n.513T>A
c.337T>A (p.Tyr113Asn)
4g.6288999T>CCA356171258WFS1c.328T>C (p.Tyr110His)
c.318T>C
c.79T>C (p.Tyr27His)
c.127T>C (p.Tyr43His)
c.202T>C (p.Tyr68His)
n.513T>C
c.337T>C (p.Tyr113His)
4g.6288999T>GCA356171256WFS1c.328T>G (p.Tyr110Asp)
c.318T>G
c.79T>G (p.Tyr27Asp)
c.127T>G (p.Tyr43Asp)
c.202T>G (p.Tyr68Asp)
n.513T>G
c.337T>G (p.Tyr113Asp)
4g.6289000A>CCA356171259WFS1c.329A>C (p.Tyr110Ser)
c.319A>C
c.80A>C (p.Tyr27Ser)
c.128A>C (p.Tyr43Ser)
c.203A>C (p.Tyr68Ser)
n.514A>C
c.338A>C (p.Tyr113Ser)
4g.6289000A>GCA356171261WFS1c.329A>G (p.Tyr110Cys)
c.319A>G
c.80A>G (p.Tyr27Cys)
c.128A>G (p.Tyr43Cys)
c.203A>G (p.Tyr68Cys)
n.514A>G
c.338A>G (p.Tyr113Cys)
4g.6289000A>TCA356171263WFS1c.329A>T (p.Tyr110Phe)
c.319A>T
c.80A>T (p.Tyr27Phe)
c.128A>T (p.Tyr43Phe)
c.203A>T (p.Tyr68Phe)
n.514A>T
c.338A>T (p.Tyr113Phe)
4g.6289001C>ACA356171265WFS1c.330C>A (p.Tyr110Ter)
c.320C>A
c.81C>A (p.Tyr27Ter)
c.129C>A (p.Tyr43Ter)
c.204C>A (p.Tyr68Ter)
n.515C>A
c.339C>A (p.Tyr113Ter)
ClinVar dbSNP
4g.6289001C=CA1435766581WFS1c.330C= (p.Tyr110=)
c.320C=
c.81C= (p.Tyr27=)
c.129C= (p.Tyr43=)
c.204C= (p.Tyr68=)
n.515C=
c.339C= (p.Tyr113=)
4g.6289001C>GCA356171267WFS1c.330C>G (p.Tyr110Ter)
c.320C>G
c.81C>G (p.Tyr27Ter)
c.129C>G (p.Tyr43Ter)
c.204C>G (p.Tyr68Ter)
n.515C>G
c.339C>G (p.Tyr113Ter)
4g.6289001C>TCA438210754WFS1c.330C>T (p.Tyr110=)
c.320C>T
c.81C>T (p.Tyr27=)
c.129C>T (p.Tyr43=)
c.204C>T (p.Tyr68=)
n.515C>T
c.339C>T (p.Tyr113=)
4g.6289002C>ACA356171269WFS1c.331C>A (p.Leu111Met)
c.321C>A
c.82C>A (p.Leu28Met)
c.130C>A (p.Leu44Met)
c.205C>A (p.Leu69Met)
n.516C>A
c.340C>A (p.Leu114Met)
4g.6289002C=CA1435766588WFS1c.331C= (p.Leu111=)
c.321C=
c.82C= (p.Leu28=)
c.130C= (p.Leu44=)
c.205C= (p.Leu69=)
n.516C=
c.340C= (p.Leu114=)
4g.6289002C>GCA356171271WFS1c.331C>G (p.Leu111Val)
c.321C>G
c.82C>G (p.Leu28Val)
c.130C>G (p.Leu44Val)
c.205C>G (p.Leu69Val)
n.516C>G
c.340C>G (p.Leu114Val)
4g.6289002C>TCA438210755WFS1c.331C>T (p.Leu111=)
c.321C>T
c.82C>T (p.Leu28=)
c.130C>T (p.Leu44=)
c.205C>T (p.Leu69=)
n.516C>T
c.340C>T (p.Leu114=)
dbSNP gnomAD v2 gnomAD v4
4g.6289003T>ACA356171273WFS1c.332T>A (p.Leu111Gln)
c.322T>A
c.83T>A (p.Leu28Gln)
c.131T>A (p.Leu44Gln)
c.206T>A (p.Leu69Gln)
n.517T>A
c.341T>A (p.Leu114Gln)
4g.6289003T>CCA356171274WFS1c.332T>C (p.Leu111Pro)
c.322T>C
c.83T>C (p.Leu28Pro)
c.131T>C (p.Leu44Pro)
c.206T>C (p.Leu69Pro)
n.517T>C
c.341T>C (p.Leu114Pro)
gnomAD v4
4g.6289003T>GCA356171276WFS1c.332T>G (p.Leu111Arg)
c.322T>G
c.83T>G (p.Leu28Arg)
c.131T>G (p.Leu44Arg)
c.206T>G (p.Leu69Arg)
n.517T>G
c.341T>G (p.Leu114Arg)
4g.6289003dupCA2669825534WFS1c.332dup (p.Gln112AlafsTer8)
c.322dup
c.83dup (p.Gln29AlafsTer8)
c.131dup (p.Gln45AlafsTer8)
c.206dup (p.Gln70AlafsTer8)
n.517dup
c.341dup (p.Gln115AlafsTer8)
gnomAD v4
4g.6289004G>ACA2838866WFS1c.333G>A (p.Leu111=)
c.323G>A
c.84G>A (p.Leu28=)
c.132G>A (p.Leu44=)
c.207G>A (p.Leu69=)
n.518G>A
c.342G>A (p.Leu114=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6289004G>CCA438210756WFS1c.333G>C (p.Leu111=)
c.323G>C
c.84G>C (p.Leu28=)
c.132G>C (p.Leu44=)
c.207G>C (p.Leu69=)
n.518G>C
c.342G>C (p.Leu114=)
4g.6289004G=CA1435766591WFS1c.333G= (p.Leu111=)
c.323G=
c.84G= (p.Leu28=)
c.132G= (p.Leu44=)
c.207G= (p.Leu69=)
n.518G=
c.342G= (p.Leu114=)
4g.6289004G>TCA438210757WFS1c.333G>T (p.Leu111=)
c.323G>T
c.84G>T (p.Leu28=)
c.132G>T (p.Leu44=)
c.207G>T (p.Leu69=)
n.518G>T
c.342G>T (p.Leu114=)
gnomAD v4
4g.6289005C>ACA356171283WFS1c.334C>A (p.Gln112Lys)
c.324C>A
c.85C>A (p.Gln29Lys)
c.133C>A (p.Gln45Lys)
c.208C>A (p.Gln70Lys)
n.519C>A
c.343C>A (p.Gln115Lys)
gnomAD v4
4g.6289005C=CA1435766594WFS1c.334C= (p.Gln112=)
c.324C=
c.85C= (p.Gln29=)
c.133C= (p.Gln45=)
c.208C= (p.Gln70=)
n.519C=
c.343C= (p.Gln115=)
4g.6289005C>GCA356171281WFS1c.334C>G (p.Gln112Glu)
c.324C>G
c.85C>G (p.Gln29Glu)
c.133C>G (p.Gln45Glu)
c.208C>G (p.Gln70Glu)
n.519C>G
c.343C>G (p.Gln115Glu)
4g.6289005C>TCA356171279WFS1c.334C>T (p.Gln112Ter)
c.324C>T
c.85C>T (p.Gln29Ter)
c.133C>T (p.Gln45Ter)
c.208C>T (p.Gln70Ter)
n.519C>T
c.343C>T (p.Gln115Ter)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6289006A>CCA356171285WFS1c.335A>C (p.Gln112Pro)
c.325A>C
c.86A>C (p.Gln29Pro)
c.134A>C (p.Gln45Pro)
c.209A>C (p.Gln70Pro)
n.520A>C
c.344A>C (p.Gln115Pro)
4g.6289006A>GCA356171288WFS1c.335A>G (p.Gln112Arg)
c.325A>G
c.86A>G (p.Gln29Arg)
c.134A>G (p.Gln45Arg)
c.209A>G (p.Gln70Arg)
n.520A>G
c.344A>G (p.Gln115Arg)
4g.6289006A>TCA356171290WFS1c.335A>T (p.Gln112Leu)
c.325A>T
c.86A>T (p.Gln29Leu)
c.134A>T (p.Gln45Leu)
c.209A>T (p.Gln70Leu)
n.520A>T
c.344A>T (p.Gln115Leu)
4g.6289007G>ACA438210758WFS1c.336G>A (p.Gln112=)
c.326G>A
c.87G>A (p.Gln29=)
c.135G>A (p.Gln45=)
c.210G>A (p.Gln70=)
n.521G>A
c.345G>A (p.Gln115=)
ClinVar gnomAD v4
4g.6289007G>CCA356171292WFS1c.336G>C (p.Gln112His)
c.326G>C
c.87G>C (p.Gln29His)
c.135G>C (p.Gln45His)
c.210G>C (p.Gln70His)
n.521G>C
c.345G>C (p.Gln115His)
4g.6289007G>TCA356171294WFS1c.336G>T (p.Gln112His)
c.326G>T
c.87G>T (p.Gln29His)
c.135G>T (p.Gln45His)
c.210G>T (p.Gln70His)
n.521G>T
c.345G>T (p.Gln115His)
4g.6289008T>ACA356171296WFS1c.337T>A (p.Leu113Met)
c.327T>A
c.88T>A (p.Leu30Met)
c.136T>A (p.Leu46Met)
c.211T>A (p.Leu71Met)
n.522T>A
c.346T>A (p.Leu116Met)
4g.6289008T>CCA438210759WFS1c.337T>C (p.Leu113=)
c.327T>C
c.88T>C (p.Leu30=)
c.136T>C (p.Leu46=)
c.211T>C (p.Leu71=)
n.522T>C
c.346T>C (p.Leu116=)
ClinVar
4g.6289008T>GCA356171297WFS1c.337T>G (p.Leu113Val)
c.327T>G
c.88T>G (p.Leu30Val)
c.136T>G (p.Leu46Val)
c.211T>G (p.Leu71Val)
n.522T>G
c.346T>G (p.Leu116Val)
4g.6289009T>ACA356171300WFS1c.338T>A (p.Leu113Ter)
c.328T>A
c.89T>A (p.Leu30Ter)
c.137T>A (p.Leu46Ter)
c.212T>A (p.Leu71Ter)
n.523T>A
c.347T>A (p.Leu116Ter)
4g.6289009T>CCA356171302WFS1c.338T>C (p.Leu113Ser)
c.328T>C
c.89T>C (p.Leu30Ser)
c.137T>C (p.Leu46Ser)
c.212T>C (p.Leu71Ser)
n.523T>C
c.347T>C (p.Leu116Ser)
4g.6289009T>GCA356171304WFS1c.338T>G (p.Leu113Trp)
c.328T>G
c.89T>G (p.Leu30Trp)
c.137T>G (p.Leu46Trp)
c.212T>G (p.Leu71Trp)
n.523T>G
c.347T>G (p.Leu116Trp)
4g.6289010G>ACA438210760WFS1c.339G>A (p.Leu113=)
c.329G>A
c.90G>A (p.Leu30=)
c.138G>A (p.Leu46=)
c.213G>A (p.Leu71=)
n.524G>A
c.348G>A (p.Leu116=)
4g.6289010G>CCA356171306WFS1c.339G>C (p.Leu113Phe)
c.329G>C
c.90G>C (p.Leu30Phe)
c.138G>C (p.Leu46Phe)
c.213G>C (p.Leu71Phe)
n.524G>C
c.348G>C (p.Leu116Phe)
4g.6289010G=CA1435766596WFS1c.339G= (p.Leu113=)
c.329G=
c.90G= (p.Leu30=)
c.138G= (p.Leu46=)
c.213G= (p.Leu71=)
n.524G=
c.348G= (p.Leu116=)
4g.6289010G>TCA91794308WFS1c.339G>T (p.Leu113Phe)
c.329G>T
c.90G>T (p.Leu30Phe)
c.138G>T (p.Leu46Phe)
c.213G>T (p.Leu71Phe)
n.524G>T
c.348G>T (p.Leu116Phe)
dbSNP
4g.6289011G>ACA356171309WFS1c.340G>A (p.Ala114Thr)
c.330G>A
c.91G>A (p.Ala31Thr)
c.139G>A (p.Ala47Thr)
c.214G>A (p.Ala72Thr)
n.525G>A
c.349G>A (p.Ala117Thr)
4g.6289011G>CCA356171313WFS1c.340G>C (p.Ala114Pro)
c.330G>C
c.91G>C (p.Ala31Pro)
c.139G>C (p.Ala47Pro)
c.214G>C (p.Ala72Pro)
n.525G>C
c.349G>C (p.Ala117Pro)
4g.6289011G>TCA356171311WFS1c.340G>T (p.Ala114Ser)
c.330G>T
c.91G>T (p.Ala31Ser)
c.139G>T (p.Ala47Ser)
c.214G>T (p.Ala72Ser)
n.525G>T
c.349G>T (p.Ala117Ser)
gnomAD v4
4g.6289012C>ACA356171315WFS1c.341C>A (p.Ala114Asp)
c.331C>A
c.92C>A (p.Ala31Asp)
c.140C>A (p.Ala47Asp)
c.215C>A (p.Ala72Asp)
n.526C>A
c.350C>A (p.Ala117Asp)
dbSNP gnomAD v2
4g.6289012C=CA1435766600WFS1c.341C= (p.Ala114=)
c.331C=
c.92C= (p.Ala31=)
c.140C= (p.Ala47=)
c.215C= (p.Ala72=)
n.526C=
c.350C= (p.Ala117=)
4g.6289012C>GCA356171319WFS1c.341C>G (p.Ala114Gly)
c.331C>G
c.92C>G (p.Ala31Gly)
c.140C>G (p.Ala47Gly)
c.215C>G (p.Ala72Gly)
n.526C>G
c.350C>G (p.Ala117Gly)
dbSNP gnomAD v2
4g.6289012C>TCA356171317WFS1c.341C>T (p.Ala114Val)
c.331C>T
c.92C>T (p.Ala31Val)
c.140C>T (p.Ala47Val)
c.215C>T (p.Ala72Val)
n.526C>T
c.350C>T (p.Ala117Val)
gnomAD v4
4g.6289013C>ACA438210761WFS1c.342C>A (p.Ala114=)
c.332C>A
c.93C>A (p.Ala31=)
c.141C>A (p.Ala47=)
c.216C>A (p.Ala72=)
n.527C>A
c.351C>A (p.Ala117=)
4g.6289013C=CA1435766604WFS1c.342C= (p.Ala114=)
c.332C=
c.93C= (p.Ala31=)
c.141C= (p.Ala47=)
c.216C= (p.Ala72=)
n.527C=
c.351C= (p.Ala117=)
4g.6289013C>GCA438210762WFS1c.342C>G (p.Ala114=)
c.332C>G
c.93C>G (p.Ala31=)
c.141C>G (p.Ala47=)
c.216C>G (p.Ala72=)
n.527C>G
c.351C>G (p.Ala117=)
4g.6289013C>TCA2838867WFS1c.342C>T (p.Ala114=)
c.332C>T
c.93C>T (p.Ala31=)
c.141C>T (p.Ala47=)
c.216C>T (p.Ala72=)
n.527C>T
c.351C>T (p.Ala117=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6289014G>ACA2838868WFS1c.343G>A (p.Gly115Ser)
c.333G>A
c.94G>A (p.Gly32Ser)
c.142G>A (p.Gly48Ser)
c.217G>A (p.Gly73Ser)
n.528G>A
c.352G>A (p.Gly118Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6289014G>CCA356171322WFS1c.343G>C (p.Gly115Arg)
c.333G>C
c.94G>C (p.Gly32Arg)
c.142G>C (p.Gly48Arg)
c.217G>C (p.Gly73Arg)
n.528G>C
c.352G>C (p.Gly118Arg)
ClinVar dbSNP
4g.6289014G=CA1435766609WFS1c.343G= (p.Gly115=)
c.333G=
c.94G= (p.Gly32=)
c.142G= (p.Gly48=)
c.217G= (p.Gly73=)
n.528G=
c.352G= (p.Gly118=)
4g.6289014G>TCA356171325WFS1c.343G>T (p.Gly115Cys)
c.333G>T
c.94G>T (p.Gly32Cys)
c.142G>T (p.Gly48Cys)
c.217G>T (p.Gly73Cys)
n.528G>T
c.352G>T (p.Gly118Cys)
dbSNP gnomAD v3 gnomAD v4
4g.6289015G>ACA356171327WFS1c.344G>A (p.Gly115Asp)
c.334G>A
c.95G>A (p.Gly32Asp)
c.143G>A (p.Gly48Asp)
c.218G>A (p.Gly73Asp)
n.529G>A
c.353G>A (p.Gly118Asp)
gnomAD v4
4g.6289015G>CCA356171329WFS1c.344G>C (p.Gly115Ala)
c.334G>C
c.95G>C (p.Gly32Ala)
c.143G>C (p.Gly48Ala)
c.218G>C (p.Gly73Ala)
n.529G>C
c.353G>C (p.Gly118Ala)
4g.6289015G>TCA356171330WFS1c.344G>T (p.Gly115Val)
c.334G>T
c.95G>T (p.Gly32Val)
c.143G>T (p.Gly48Val)
c.218G>T (p.Gly73Val)
n.529G>T
c.353G>T (p.Gly118Val)
4g.6289016C>ACA438210764WFS1c.345C>A (p.Gly115=)
c.335C>A
c.96C>A (p.Gly32=)
c.144C>A (p.Gly48=)
c.219C>A (p.Gly73=)
n.530C>A
c.354C>A (p.Gly118=)
4g.6289016C=CA1435766612WFS1c.345C= (p.Gly115=)
c.335C=
c.96C= (p.Gly32=)
c.144C= (p.Gly48=)
c.219C= (p.Gly73=)
n.530C=
c.354C= (p.Gly118=)
4g.6289016C>GCA438210765WFS1c.345C>G (p.Gly115=)
c.335C>G
c.96C>G (p.Gly32=)
c.144C>G (p.Gly48=)
c.219C>G (p.Gly73=)
n.530C>G
c.354C>G (p.Gly118=)
4g.6289016C>TCA2838869WFS1c.345C>T (p.Gly115=)
c.335C>T
c.96C>T (p.Gly32=)
c.144C>T (p.Gly48=)
c.219C>T (p.Gly73=)
n.530C>T
c.354C>T (p.Gly118=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6289017G>ACA356171334WFS1c.346G>A (p.Asp116Asn)
c.336G>A
c.97G>A (p.Asp33Asn)
c.145G>A (p.Asp49Asn)
c.220G>A (p.Asp74Asn)
n.531G>A
c.355G>A (p.Asp119Asn)
dbSNP gnomAD v4
4g.6289017G>CCA356171336WFS1c.346G>C (p.Asp116His)
c.336G>C
c.97G>C (p.Asp33His)
c.145G>C (p.Asp49His)
c.220G>C (p.Asp74His)
n.531G>C
c.355G>C (p.Asp119His)
4g.6289017G=CA1435766614WFS1c.346G= (p.Asp116=)
c.336G=
c.97G= (p.Asp33=)
c.145G= (p.Asp49=)
c.220G= (p.Asp74=)
n.531G=
c.355G= (p.Asp119=)
4g.6289017G>TCA356171337WFS1c.346G>T (p.Asp116Tyr)
c.336G>T
c.97G>T (p.Asp33Tyr)
c.145G>T (p.Asp49Tyr)
c.220G>T (p.Asp74Tyr)
n.531G>T
c.355G>T (p.Asp119Tyr)
gnomAD v4
4g.6289018A>CCA356171340WFS1c.347A>C (p.Asp116Ala)
c.337A>C
c.98A>C (p.Asp33Ala)
c.146A>C (p.Asp49Ala)
c.221A>C (p.Asp74Ala)
n.532A>C
c.356A>C (p.Asp119Ala)
4g.6289018A>GCA356171342WFS1c.347A>G (p.Asp116Gly)
c.337A>G
c.98A>G (p.Asp33Gly)
c.146A>G (p.Asp49Gly)
c.221A>G (p.Asp74Gly)
n.532A>G
c.356A>G (p.Asp119Gly)
4g.6289018A>TCA356171344WFS1c.347A>T (p.Asp116Val)
c.337A>T
c.98A>T (p.Asp33Val)
c.146A>T (p.Asp49Val)
c.221A>T (p.Asp74Val)
n.532A>T
c.356A>T (p.Asp119Val)
4g.6289019C>ACA356171346WFS1c.348C>A (p.Asp116Glu)
c.338C>A
c.99C>A (p.Asp33Glu)
c.147C>A (p.Asp49Glu)
c.222C>A (p.Asp74Glu)
n.533C>A
c.357C>A (p.Asp119Glu)
4g.6289019C=CA1435766616WFS1c.348C= (p.Asp116=)
c.338C=
c.99C= (p.Asp33=)
c.147C= (p.Asp49=)
c.222C= (p.Asp74=)
n.533C=
c.357C= (p.Asp119=)
4g.6289019C>GCA356171348WFS1c.348C>G (p.Asp116Glu)
c.338C>G
c.99C>G (p.Asp33Glu)
c.147C>G (p.Asp49Glu)
c.222C>G (p.Asp74Glu)
n.533C>G
c.357C>G (p.Asp119Glu)
4g.6289019C>TCA438210766WFS1c.348C>T (p.Asp116=)
c.338C>T
c.99C>T (p.Asp33=)
c.147C>T (p.Asp49=)
c.222C>T (p.Asp74=)
n.533C>T
c.357C>T (p.Asp119=)
dbSNP gnomAD v2 gnomAD v4
4g.6289020A=CA1435766621WFS1c.349A= (p.Thr117=)
c.339A=
c.100A= (p.Thr34=)
c.148A= (p.Thr50=)
c.223A= (p.Thr75=)
n.534A=
c.358A= (p.Thr120=)
4g.6289020A>CCA356171353WFS1c.349A>C (p.Thr117Pro)
c.339A>C
c.100A>C (p.Thr34Pro)
c.148A>C (p.Thr50Pro)
c.223A>C (p.Thr75Pro)
n.534A>C
c.358A>C (p.Thr120Pro)
4g.6289020A>GCA2838870WFS1c.349A>G (p.Thr117Ala)
c.339A>G
c.100A>G (p.Thr34Ala)
c.148A>G (p.Thr50Ala)
c.223A>G (p.Thr75Ala)
n.534A>G
c.358A>G (p.Thr120Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6289020A>TCA356171351WFS1c.349A>T (p.Thr117Ser)
c.339A>T
c.100A>T (p.Thr34Ser)
c.148A>T (p.Thr50Ser)
c.223A>T (p.Thr75Ser)
n.534A>T
c.358A>T (p.Thr120Ser)
4g.6289021delCA2669825535WFS1c.350del (p.Thr117ArgfsTer26)
c.340del
c.101del (p.Thr34ArgfsTer26)
c.149del (p.Thr50ArgfsTer26)
c.224del (p.Thr75ArgfsTer26)
n.535del
c.359del (p.Thr120ArgfsTer26)
gnomAD v4
4g.6289021C>ACA356171356WFS1c.350C>A (p.Thr117Lys)
c.340C>A
c.101C>A (p.Thr34Lys)
c.149C>A (p.Thr50Lys)
c.224C>A (p.Thr75Lys)
n.535C>A
c.359C>A (p.Thr120Lys)
4g.6289021C=CA1435766628WFS1c.350C= (p.Thr117=)
c.340C=
c.101C= (p.Thr34=)
c.149C= (p.Thr50=)
c.224C= (p.Thr75=)
n.535C=
c.359C= (p.Thr120=)
4g.6289021C>GCA2838871WFS1c.350C>G (p.Thr117Arg)
c.340C>G
c.101C>G (p.Thr34Arg)
c.149C>G (p.Thr50Arg)
c.224C>G (p.Thr75Arg)
n.535C>G
c.359C>G (p.Thr120Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6289021C>TCA282586WFS1c.350C>T (p.Thr117Met)
c.340C>T
c.101C>T (p.Thr34Met)
c.149C>T (p.Thr50Met)
c.224C>T (p.Thr75Met)
n.535C>T
c.359C>T (p.Thr120Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6289022G>ACA91794309WFS1c.351G>A (p.Thr117=)
c.341G>A
c.102G>A (p.Thr34=)
c.150G>A (p.Thr50=)
c.225G>A (p.Thr75=)
n.536G>A
c.360G>A (p.Thr120=)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6289022G>CCA438210767WFS1c.351G>C (p.Thr117=)
c.341G>C
c.102G>C (p.Thr34=)
c.150G>C (p.Thr50=)
c.225G>C (p.Thr75=)
n.536G>C
c.360G>C (p.Thr120=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6289022G=CA1435766635WFS1c.351G= (p.Thr117=)
c.341G=
c.102G= (p.Thr34=)
c.150G= (p.Thr50=)
c.225G= (p.Thr75=)
n.536G=
c.360G= (p.Thr120=)
4g.6289022G>TCA2838872WFS1c.351G>T (p.Thr117=)
c.341G>T
c.102G>T (p.Thr34=)
c.150G>T (p.Thr50=)
c.225G>T (p.Thr75=)
n.536G>T
c.360G>T (p.Thr120=)
dbSNP ExAC gnomAD v4
4g.6289023G>ACA356171363WFS1c.352G>A (p.Asp118Asn)
c.342G>A
c.103G>A (p.Asp35Asn)
c.151G>A (p.Asp51Asn)
c.226G>A (p.Asp76Asn)
n.537G>A
c.361G>A (p.Asp121Asn)
dbSNP gnomAD v2 gnomAD v4
4g.6289023G>CCA356171365WFS1c.352G>C (p.Asp118His)
c.342G>C
c.103G>C (p.Asp35His)
c.151G>C (p.Asp51His)
c.226G>C (p.Asp76His)
n.537G>C
c.361G>C (p.Asp121His)
gnomAD v4
4g.6289023G=CA1435766639WFS1c.352G= (p.Asp118=)
c.342G=
c.103G= (p.Asp35=)
c.151G= (p.Asp51=)
c.226G= (p.Asp76=)
n.537G=
c.361G= (p.Asp121=)
4g.6289023G>TCA356171367WFS1c.352G>T (p.Asp118Tyr)
c.342G>T
c.103G>T (p.Asp35Tyr)
c.151G>T (p.Asp51Tyr)
c.226G>T (p.Asp76Tyr)
n.537G>T
c.361G>T (p.Asp121Tyr)
gnomAD v4
4g.6289024A=CA1435766643WFS1c.353A= (p.Asp118=)
c.343A=
c.104A= (p.Asp35=)
c.152A= (p.Asp51=)
c.227A= (p.Asp76=)
n.538A=
c.362A= (p.Asp121=)
4g.6289024A>CCA295785WFS1c.353A>C (p.Asp118Ala)
c.343A>C
c.104A>C (p.Asp35Ala)
c.152A>C (p.Asp51Ala)
c.227A>C (p.Asp76Ala)
n.538A>C
c.362A>C (p.Asp121Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6289024A>GCA356171369WFS1c.353A>G (p.Asp118Gly)
c.343A>G
c.104A>G (p.Asp35Gly)
c.152A>G (p.Asp51Gly)
c.227A>G (p.Asp76Gly)
n.538A>G
c.362A>G (p.Asp121Gly)
dbSNP gnomAD v2 gnomAD v4
4g.6289024A>TCA356171371WFS1c.353A>T (p.Asp118Val)
c.343A>T
c.104A>T (p.Asp35Val)
c.152A>T (p.Asp51Val)
c.227A>T (p.Asp76Val)
n.538A>T
c.362A>T (p.Asp121Val)
4g.6289025T>ACA356171373WFS1c.354T>A (p.Asp118Glu)
c.344T>A
c.105T>A (p.Asp35Glu)
c.153T>A (p.Asp51Glu)
c.228T>A (p.Asp76Glu)
n.539T>A
c.363T>A (p.Asp121Glu)
ClinVar dbSNP gnomAD v4
4g.6289025T>CCA438210768WFS1c.354T>C (p.Asp118=)
c.344T>C
c.105T>C (p.Asp35=)
c.153T>C (p.Asp51=)
c.228T>C (p.Asp76=)
n.539T>C
c.363T>C (p.Asp121=)
gnomAD v4
4g.6289025T>GCA356171375WFS1c.354T>G (p.Asp118Glu)
c.344T>G
c.105T>G (p.Asp35Glu)
c.153T>G (p.Asp51Glu)
c.228T>G (p.Asp76Glu)
n.539T>G
c.363T>G (p.Asp121Glu)
4g.6289025T=CA1435766646WFS1c.354T= (p.Asp118=)
c.344T=
c.105T= (p.Asp35=)
c.153T= (p.Asp51=)
c.228T= (p.Asp76=)
n.539T=
c.363T= (p.Asp121=)
4g.6289026G>ACA356171377WFS1c.355G>A (p.Glu119Lys)
c.345G>A
c.106G>A (p.Glu36Lys)
c.154G>A (p.Glu52Lys)
c.229G>A (p.Glu77Lys)
n.540G>A
c.364G>A (p.Glu122Lys)
4g.6289026G>CCA356171378WFS1c.355G>C (p.Glu119Gln)
c.345G>C
c.106G>C (p.Glu36Gln)
c.154G>C (p.Glu52Gln)
c.229G>C (p.Glu77Gln)
n.540G>C
c.364G>C (p.Glu122Gln)
4g.6289026G>TCA356171381WFS1c.355G>T (p.Glu119Ter)
c.345G>T
c.106G>T (p.Glu36Ter)
c.154G>T (p.Glu52Ter)
c.229G>T (p.Glu77Ter)
n.540G>T
c.364G>T (p.Glu122Ter)
4g.6289027A=CA1435766647WFS1c.356A= (p.Glu119=)
c.346A=
c.107A= (p.Glu36=)
c.155A= (p.Glu52=)
c.230A= (p.Glu77=)
n.541A=
c.365A= (p.Glu122=)
4g.6289027A>CCA2838873WFS1c.356A>C (p.Glu119Ala)
c.346A>C
c.107A>C (p.Glu36Ala)
c.155A>C (p.Glu52Ala)
c.230A>C (p.Glu77Ala)
n.541A>C
c.365A>C (p.Glu122Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6289027A>GCA356171384WFS1c.356A>G (p.Glu119Gly)
c.346A>G
c.107A>G (p.Glu36Gly)
c.155A>G (p.Glu52Gly)
c.230A>G (p.Glu77Gly)
n.541A>G
c.365A>G (p.Glu122Gly)
gnomAD v4
4g.6289027A>TCA356171385WFS1c.356A>T (p.Glu119Val)
c.346A>T
c.107A>T (p.Glu36Val)
c.155A>T (p.Glu52Val)
c.230A>T (p.Glu77Val)
n.541A>T
c.365A>T (p.Glu122Val)
4g.6289028A>CCA356171387WFS1c.357A>C (p.Glu119Asp)
c.347A>C
c.108A>C (p.Glu36Asp)
c.156A>C (p.Glu52Asp)
c.231A>C (p.Glu77Asp)
n.542A>C
c.366A>C (p.Glu122Asp)
4g.6289028A>GCA438210769WFS1c.357A>G (p.Glu119=)
c.347A>G
c.108A>G (p.Glu36=)
c.156A>G (p.Glu52=)
c.231A>G (p.Glu77=)
n.542A>G
c.366A>G (p.Glu122=)
gnomAD v4
4g.6289028A>TCA356171389WFS1c.357A>T (p.Glu119Asp)
c.347A>T
c.108A>T (p.Glu36Asp)
c.156A>T (p.Glu52Asp)
c.231A>T (p.Glu77Asp)
n.542A>T
c.366A>T (p.Glu122Asp)
4g.6289029G>ACA356171391WFS1c.358G>A (p.Glu120Lys)
c.348G>A
c.109G>A (p.Glu37Lys)
c.157G>A (p.Glu53Lys)
c.232G>A (p.Glu78Lys)
n.543G>A
c.367G>A (p.Glu123Lys)
ClinVar dbSNP
4g.6289029G>CCA356171392WFS1c.358G>C (p.Glu120Gln)
c.348G>C
c.109G>C (p.Glu37Gln)
c.157G>C (p.Glu53Gln)
c.232G>C (p.Glu78Gln)
n.543G>C
c.367G>C (p.Glu123Gln)
4g.6289029G=CA1435766653WFS1c.358G= (p.Glu120=)
c.348G=
c.109G= (p.Glu37=)
c.157G= (p.Glu53=)
c.232G= (p.Glu78=)
n.543G=
c.367G= (p.Glu123=)
4g.6289029G>TCA356171394WFS1c.358G>T (p.Glu120Ter)
c.348G>T
c.109G>T (p.Glu37Ter)
c.157G>T (p.Glu53Ter)
c.232G>T (p.Glu78Ter)
n.543G>T
c.367G>T (p.Glu123Ter)
4g.6289030A>CCA356171401WFS1c.359A>C (p.Glu120Ala)
c.349A>C
c.110A>C (p.Glu37Ala)
c.158A>C (p.Glu53Ala)
c.233A>C (p.Glu78Ala)
n.544A>C
c.368A>C (p.Glu123Ala)
4g.6289030A>GCA356171399WFS1c.359A>G (p.Glu120Gly)
c.349A>G
c.110A>G (p.Glu37Gly)
c.158A>G (p.Glu53Gly)
c.233A>G (p.Glu78Gly)
n.544A>G
c.368A>G (p.Glu123Gly)
4g.6289030A>TCA356171397WFS1c.359A>T (p.Glu120Val)
c.349A>T
c.110A>T (p.Glu37Val)
c.158A>T (p.Glu53Val)
c.233A>T (p.Glu78Val)
n.544A>T
c.368A>T (p.Glu123Val)
4g.6289031A>CCA356171403WFS1c.360A>C (p.Glu120Asp)
c.350A>C
c.111A>C (p.Glu37Asp)
c.159A>C (p.Glu53Asp)
c.234A>C (p.Glu78Asp)
n.545A>C
c.369A>C (p.Glu123Asp)
4g.6289031A>GCA438210771WFS1c.360A>G (p.Glu120=)
c.350A>G
c.111A>G (p.Glu37=)
c.159A>G (p.Glu53=)
c.234A>G (p.Glu78=)
n.545A>G
c.369A>G (p.Glu123=)
4g.6289031A>TCA356171404WFS1c.360A>T (p.Glu120Asp)
c.350A>T
c.111A>T (p.Glu37Asp)
c.159A>T (p.Glu53Asp)
c.234A>T (p.Glu78Asp)
n.545A>T
c.369A>T (p.Glu123Asp)
4g.6289032C>ACA356171406WFS1c.361C>A (p.Leu121Ile)
c.351C>A
c.112C>A (p.Leu38Ile)
c.160C>A (p.Leu54Ile)
c.235C>A (p.Leu79Ile)
n.546C>A
c.370C>A (p.Leu124Ile)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.6289032C=CA1435766660WFS1c.361C= (p.Leu121=)
c.351C=
c.112C= (p.Leu38=)
c.160C= (p.Leu54=)
c.235C= (p.Leu79=)
n.546C=
c.370C= (p.Leu124=)
4g.6289032C>GCA356171408WFS1c.361C>G (p.Leu121Val)
c.351C>G
c.112C>G (p.Leu38Val)
c.160C>G (p.Leu54Val)
c.235C>G (p.Leu79Val)
n.546C>G
c.370C>G (p.Leu124Val)
dbSNP gnomAD v4
4g.6289032C>TCA356171410WFS1c.361C>T (p.Leu121Phe)
c.351C>T
c.112C>T (p.Leu38Phe)
c.160C>T (p.Leu54Phe)
c.235C>T (p.Leu79Phe)
n.546C>T
c.370C>T (p.Leu124Phe)
ClinVar dbSNP
4g.6289033T>ACA356171412WFS1c.362T>A (p.Leu121His)
c.352T>A
c.113T>A (p.Leu38His)
c.161T>A (p.Leu54His)
c.236T>A (p.Leu79His)
n.547T>A
c.371T>A (p.Leu124His)
4g.6289033T>CCA356171414WFS1c.362T>C (p.Leu121Pro)
c.352T>C
c.113T>C (p.Leu38Pro)
c.161T>C (p.Leu54Pro)
c.236T>C (p.Leu79Pro)
n.547T>C
c.371T>C (p.Leu124Pro)
dbSNP gnomAD v2 gnomAD v4
4g.6289033T>GCA356171416WFS1c.362T>G (p.Leu121Arg)
c.352T>G
c.113T>G (p.Leu38Arg)
c.161T>G (p.Leu54Arg)
c.236T>G (p.Leu79Arg)
n.547T>G
c.371T>G (p.Leu124Arg)
4g.6289033T=CA1435766667WFS1c.362T= (p.Leu121=)
c.352T=
c.113T= (p.Leu38=)
c.161T= (p.Leu54=)
c.236T= (p.Leu79=)
n.547T=
c.371T= (p.Leu124=)
4g.6289034C>ACA438210772WFS1c.363C>A (p.Leu121=)
c.353C>A
c.114C>A (p.Leu38=)
c.162C>A (p.Leu54=)
c.237C>A (p.Leu79=)
n.548C>A
c.372C>A (p.Leu124=)
4g.6289034C=CA1435766672WFS1c.363C= (p.Leu121=)
c.353C=
c.114C= (p.Leu38=)
c.162C= (p.Leu54=)
c.237C= (p.Leu79=)
n.548C=
c.372C= (p.Leu124=)
4g.6289034C>GCA438210773WFS1c.363C>G (p.Leu121=)
c.353C>G
c.114C>G (p.Leu38=)
c.162C>G (p.Leu54=)
c.237C>G (p.Leu79=)
n.548C>G
c.372C>G (p.Leu124=)
4g.6289034C>TCA2838874WFS1c.363C>T (p.Leu121=)
c.353C>T
c.114C>T (p.Leu38=)
c.162C>T (p.Leu54=)
c.237C>T (p.Leu79=)
n.548C>T
c.372C>T (p.Leu124=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6289035A>CCA356171419WFS1c.364A>C (p.Asn122His)
c.354A>C
c.115A>C (p.Asn39His)
c.163A>C (p.Asn55His)
c.238A>C (p.Asn80His)
n.549A>C
c.373A>C (p.Asn125His)
gnomAD v4
4g.6289035A>GCA356171420WFS1c.364A>G (p.Asn122Asp)
c.354A>G
c.115A>G (p.Asn39Asp)
c.163A>G (p.Asn55Asp)
c.238A>G (p.Asn80Asp)
n.549A>G
c.373A>G (p.Asn125Asp)
gnomAD v4
4g.6289035A>TCA356171422WFS1c.364A>T (p.Asn122Tyr)
c.354A>T
c.115A>T (p.Asn39Tyr)
c.163A>T (p.Asn55Tyr)
c.238A>T (p.Asn80Tyr)
n.549A>T
c.373A>T (p.Asn125Tyr)
4g.6289036A>CCA356171426WFS1c.365A>C (p.Asn122Thr)
c.355A>C
c.116A>C (p.Asn39Thr)
c.164A>C (p.Asn55Thr)
c.239A>C (p.Asn80Thr)
n.550A>C
c.374A>C (p.Asn125Thr)
gnomAD v4
4g.6289036A>GCA356171428WFS1c.365A>G (p.Asn122Ser)
c.355A>G
c.116A>G (p.Asn39Ser)
c.164A>G (p.Asn55Ser)
c.239A>G (p.Asn80Ser)
n.550A>G
c.374A>G (p.Asn125Ser)
gnomAD v4
4g.6289036A>TCA356171424WFS1c.365A>T (p.Asn122Ile)
c.355A>T
c.116A>T (p.Asn39Ile)
c.164A>T (p.Asn55Ile)
c.239A>T (p.Asn80Ile)
n.550A>T
c.374A>T (p.Asn125Ile)
4g.6289037C>ACA356171430WFS1c.366C>A (p.Asn122Lys)
c.356C>A
c.117C>A (p.Asn39Lys)
c.165C>A (p.Asn55Lys)
c.240C>A (p.Asn80Lys)
n.551C>A
c.375C>A (p.Asn125Lys)
4g.6289037C>GCA356171432WFS1c.366C>G (p.Asn122Lys)
c.356C>G
c.117C>G (p.Asn39Lys)
c.165C>G (p.Asn55Lys)
c.240C>G (p.Asn80Lys)
n.551C>G
c.375C>G (p.Asn125Lys)
gnomAD v4
4g.6289037C>TCA438210775WFS1c.366C>T (p.Asn122=)
c.356C>T
c.117C>T (p.Asn39=)
c.165C>T (p.Asn55=)
c.240C>T (p.Asn80=)
n.551C>T
c.375C>T (p.Asn125=)
gnomAD v4
4g.6289038A>CCA356171434WFS1c.367A>C (p.Ser123Arg)
c.357A>C
c.118A>C (p.Ser40Arg)
c.166A>C (p.Ser56Arg)
c.241A>C (p.Ser81Arg)
n.552A>C
c.376A>C (p.Ser126Arg)
4g.6289038A>GCA356171436WFS1c.367A>G (p.Ser123Gly)
c.357A>G
c.118A>G (p.Ser40Gly)
c.166A>G (p.Ser56Gly)
c.241A>G (p.Ser81Gly)
n.552A>G
c.376A>G (p.Ser126Gly)
4g.6289038A>TCA356171438WFS1c.367A>T (p.Ser123Cys)
c.357A>T
c.118A>T (p.Ser40Cys)
c.166A>T (p.Ser56Cys)
c.241A>T (p.Ser81Cys)
n.552A>T
c.376A>T (p.Ser126Cys)
4g.6289039G>ACA356171445WFS1c.368G>A (p.Ser123Asn)
c.358G>A
c.119G>A (p.Ser40Asn)
c.167G>A (p.Ser56Asn)
c.242G>A (p.Ser81Asn)
n.553G>A
c.377G>A (p.Ser126Asn)
4g.6289039G>CCA356171441WFS1c.368G>C (p.Ser123Thr)
c.358G>C
c.119G>C (p.Ser40Thr)
c.167G>C (p.Ser56Thr)
c.242G>C (p.Ser81Thr)
n.553G>C
c.377G>C (p.Ser126Thr)
4g.6289039G>TCA356171443WFS1c.368G>T (p.Ser123Ile)
c.358G>T
c.119G>T (p.Ser40Ile)
c.167G>T (p.Ser56Ile)
c.242G>T (p.Ser81Ile)
n.553G>T
c.377G>T (p.Ser126Ile)
4g.6289040C>ACA356171447WFS1c.369C>A (p.Ser123Arg)
c.359C>A
c.120C>A (p.Ser40Arg)
c.168C>A (p.Ser56Arg)
c.243C>A (p.Ser81Arg)
n.554C>A
c.378C>A (p.Ser126Arg)
4g.6289040C>GCA356171449WFS1c.369C>G (p.Ser123Arg)
c.359C>G
c.120C>G (p.Ser40Arg)
c.168C>G (p.Ser56Arg)
c.243C>G (p.Ser81Arg)
n.554C>G
c.378C>G (p.Ser126Arg)
4g.6289040C>TCA438210777WFS1c.369C>T (p.Ser123=)
c.359C>T
c.120C>T (p.Ser40=)
c.168C>T (p.Ser56=)
c.243C>T (p.Ser81=)
n.554C>T
c.378C>T (p.Ser126=)
4g.6289041T>ACA356171451WFS1c.370T>A (p.Cys124Ser)
c.360T>A
c.121T>A (p.Cys41Ser)
c.169T>A (p.Cys57Ser)
c.244T>A (p.Cys82Ser)
n.555T>A
c.379T>A (p.Cys127Ser)
4g.6289041T>CCA356171453WFS1c.370T>C (p.Cys124Arg)
c.360T>C
c.121T>C (p.Cys41Arg)
c.169T>C (p.Cys57Arg)
c.244T>C (p.Cys82Arg)
n.555T>C
c.379T>C (p.Cys127Arg)
4g.6289041T>GCA356171455WFS1c.370T>G (p.Cys124Gly)
c.360T>G
c.121T>G (p.Cys41Gly)
c.169T>G (p.Cys57Gly)
c.244T>G (p.Cys82Gly)
n.555T>G
c.379T>G (p.Cys127Gly)
dbSNP
4g.6289041T=CA1435766681WFS1c.370T= (p.Cys124=)
c.360T=
c.121T= (p.Cys41=)
c.169T= (p.Cys57=)
c.244T= (p.Cys82=)
n.555T=
c.379T= (p.Cys127=)
4g.6289042G>ACA356171461WFS1c.371G>A (p.Cys124Tyr)
c.361G>A
c.122G>A (p.Cys41Tyr)
c.170G>A (p.Cys57Tyr)
c.245G>A (p.Cys82Tyr)
n.556G>A
c.380G>A (p.Cys127Tyr)
gnomAD v4
4g.6289042G>CCA356171457WFS1c.371G>C (p.Cys124Ser)
c.361G>C
c.122G>C (p.Cys41Ser)
c.170G>C (p.Cys57Ser)
c.245G>C (p.Cys82Ser)
n.556G>C
c.380G>C (p.Cys127Ser)
4g.6289042G>TCA356171459WFS1c.371G>T (p.Cys124Phe)
c.361G>T
c.122G>T (p.Cys41Phe)
c.170G>T (p.Cys57Phe)
c.245G>T (p.Cys82Phe)
n.556G>T
c.380G>T (p.Cys127Phe)
4g.6289043C>ACA356171463WFS1c.372C>A (p.Cys124Ter)
c.362C>A
c.123C>A (p.Cys41Ter)
c.171C>A (p.Cys57Ter)
c.246C>A (p.Cys82Ter)
n.557C>A
c.381C>A (p.Cys127Ter)
gnomAD v4
4g.6289043C>GCA356171465WFS1c.372C>G (p.Cys124Trp)
c.362C>G
c.123C>G (p.Cys41Trp)
c.171C>G (p.Cys57Trp)
c.246C>G (p.Cys82Trp)
n.557C>G
c.381C>G (p.Cys127Trp)
4g.6289043C>TCA438210778WFS1c.372C>T (p.Cys124=)
c.362C>T
c.123C>T (p.Cys41=)
c.171C>T (p.Cys57=)
c.246C>T (p.Cys82=)
n.557C>T
c.381C>T (p.Cys127=)
gnomAD v4
4g.6289044A>CCA356171466WFS1c.373A>C (p.Thr125Pro)
c.363A>C
c.124A>C (p.Thr42Pro)
c.172A>C (p.Thr58Pro)
c.247A>C (p.Thr83Pro)
n.558A>C
c.382A>C (p.Thr128Pro)
4g.6289044A>GCA356171468WFS1c.373A>G (p.Thr125Ala)
c.363A>G
c.124A>G (p.Thr42Ala)
c.172A>G (p.Thr58Ala)
c.247A>G (p.Thr83Ala)
n.558A>G
c.382A>G (p.Thr128Ala)
4g.6289044A>TCA356171470WFS1c.373A>T (p.Thr125Ser)
c.363A>T
c.124A>T (p.Thr42Ser)
c.172A>T (p.Thr58Ser)
c.247A>T (p.Thr83Ser)
n.558A>T
c.382A>T (p.Thr128Ser)
4g.6289045C>ACA356171472WFS1c.374C>A (p.Thr125Asn)
c.364C>A
c.125C>A (p.Thr42Asn)
c.173C>A (p.Thr58Asn)
c.248C>A (p.Thr83Asn)
n.559C>A
c.383C>A (p.Thr128Asn)
4g.6289045C=CA1435766684WFS1c.374C= (p.Thr125=)
c.364C=
c.125C= (p.Thr42=)
c.173C= (p.Thr58=)
c.248C= (p.Thr83=)
n.559C=
c.383C= (p.Thr128=)
4g.6289045C>GCA356171474WFS1c.374C>G (p.Thr125Ser)
c.364C>G
c.125C>G (p.Thr42Ser)
c.173C>G (p.Thr58Ser)
c.248C>G (p.Thr83Ser)
n.559C>G
c.383C>G (p.Thr128Ser)
4g.6289045C>TCA356171476WFS1c.374C>T (p.Thr125Ile)
c.364C>T
c.125C>T (p.Thr42Ile)
c.173C>T (p.Thr58Ile)
c.248C>T (p.Thr83Ile)
n.559C>T
c.383C>T (p.Thr128Ile)
dbSNP gnomAD v4
4g.6289046C>ACA2838876WFS1c.375C>A (p.Thr125=)
c.365C>A
c.126C>A (p.Thr42=)
c.174C>A (p.Thr58=)
c.249C>A (p.Thr83=)
n.560C>A
c.384C>A (p.Thr128=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6289046C=CA1435766690WFS1c.375C= (p.Thr125=)
c.365C=
c.126C= (p.Thr42=)
c.174C= (p.Thr58=)
c.249C= (p.Thr83=)
n.560C=
c.384C= (p.Thr128=)
4g.6289046C>GCA438210781WFS1c.375C>G (p.Thr125=)
c.365C>G
c.126C>G (p.Thr42=)
c.174C>G (p.Thr58=)
c.249C>G (p.Thr83=)
n.560C>G
c.384C>G (p.Thr128=)
4g.6289046C>TCA2838875WFS1c.375C>T (p.Thr125=)
c.365C>T
c.126C>T (p.Thr42=)
c.174C>T (p.Thr58=)
c.249C>T (p.Thr83=)
n.560C>T
c.384C>T (p.Thr128=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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

Number of alleles fetched