Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.6288948del | CA2669825509 | WFS1 | c.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 |
4 | g.6288947G>C | CA2838853 | WFS1 | c.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 |
4 | g.6288947G= | CA1435766481 | WFS1 | c.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=) | |
4 | g.6288948G>A | CA2669825512 | WFS1 | c.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 |
4 | g.6288949T>G | CA2669825513 | WFS1 | c.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 |
4 | g.6288950C>A | CA91794303 | WFS1 | c.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 |
4 | g.6288950C= | CA1435766482 | WFS1 | c.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=) | |
4 | g.6288950C>G | CA549422602 | WFS1 | c.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 |
4 | g.6288950C>T | CA2838854 | WFS1 | c.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 |
4 | g.6288951G>A | CA2838855 | WFS1 | c.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 |
4 | g.6288951G= | CA1435766486 | WFS1 | c.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=) | |
4 | g.6288952G>C | CA549422605 | WFS1 | c.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 |
4 | g.6288952G= | CA1435766487 | WFS1 | c.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=) | |
4 | g.6288952G>T | CA2669825514 | WFS1 | c.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 |
4 | g.6288954G>A | CA2669825515 | WFS1 | c.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 |
4 | g.6288954G>C | CA2838856 | WFS1 | c.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 |
4 | g.6288954G= | CA1435766489 | WFS1 | c.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=) | |
4 | g.6288954G>T | CA2669825516 | WFS1 | c.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 |
4 | g.6288955A= | CA1435766491 | WFS1 | c.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=) | |
4 | g.6288955A>C | CA549422606 | WFS1 | c.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 |
4 | g.6288955A>G | CA2669825517 | WFS1 | c.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 |
4 | g.6288956A>G | CA2669825518 | WFS1 | c.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 |
4 | g.6288958C>G | CA2578035718 | WFS1 | c.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 |
4 | g.6288958C>T | CA2669825519 | WFS1 | c.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 |
4 | g.6288959T>C | CA2838857 | WFS1 | c.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 |
4 | g.6288959T= | CA1435766492 | WFS1 | c.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=) | |
4 | g.6288960G>T | CA2669825520 | WFS1 | c.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 |
4 | g.6288963G>A | CA549422607 | WFS1 | c.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 |
4 | g.6288963G= | CA1435766493 | WFS1 | c.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=) | |
4 | g.6288963G>T | CA2838858 | WFS1 | c.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 |
4 | g.6288964G>C | CA2838859 | WFS1 | c.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 |
4 | g.6288964G= | CA1435766498 | WFS1 | c.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=) | |
4 | g.6288964G>T | CA2669825521 | WFS1 | c.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 |
4 | g.6288965C>A | CA2669825522 | WFS1 | c.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 |
4 | g.6288965C= | CA1435766500 | WFS1 | c.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=) | |
4 | g.6288965C>T | CA1058887544 | WFS1 | c.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 |
4 | g.6288966T>C | CA2669825523 | WFS1 | c.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 |
4 | g.6288967G>T | CA2669825524 | WFS1 | c.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 |
4 | g.6288969C>A | CA2669825525 | WFS1 | c.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 |
4 | g.6288969C= | CA1435766501 | WFS1 | c.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=) | |
4 | g.6288969C>T | CA549422609 | WFS1 | c.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 |
4 | g.6288970T>A | CA2669825526 | WFS1 | c.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 |
4 | g.6288970T>C | CA2669825527 | WFS1 | c.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 |
4 | g.6288970T>G | CA2578035721 | WFS1 | c.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) | |
4 | g.6288972G>A | CA1058887546 | WFS1 | c.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 |
4 | g.6288972G>C | CA91794304 | WFS1 | c.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 |
4 | g.6288972G= | CA1435766504 | WFS1 | c.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=) | |
4 | g.6288973del | CA2669825528 | WFS1 | c.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 |
4 | g.6288973T>C | CA16604624 | WFS1 | c.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 |
4 | g.6288973T>G | CA2838860 | WFS1 | c.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 |
4 | g.6288973T= | CA1435766507 | WFS1 | c.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=) | |
4 | g.6288974G>A | CA2669825529 | WFS1 | c.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 |
4 | g.6288975T>A | CA1435766514 | WFS1 | c.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 |
4 | g.6288975T= | CA1435766513 | WFS1 | c.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=) | |
4 | g.6288978G>A | CA549422610 | WFS1 | c.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 |
4 | g.6288978G>C | CA2580071755 | WFS1 | c.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 |
4 | g.6288978G= | CA1435766515 | WFS1 | c.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=) | |
4 | g.6288978G>T | CA2669825530 | WFS1 | c.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 |
4 | g.6288979G>T | CA2669825531 | WFS1 | c.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 |
4 | g.6288980C>A | CA2838861 | WFS1 | c.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 |
4 | g.6288980C= | CA1435766520 | WFS1 | c.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=) | |
4 | g.6288980C>G | CA2838862 | WFS1 | c.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 |
4 | g.6288982T>G | CA2838863 | WFS1 | c.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 |
4 | g.6288982T= | CA1435766523 | WFS1 | c.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=) | |
4 | g.6288983G>A | CA797125763 | WFS1 | c.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 |
4 | g.6288983G= | CA1435766527 | WFS1 | c.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=) | |
4 | g.6288983G>T | CA2669825532 | WFS1 | c.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 |
4 | g.6288984C= | CA1435766528 | WFS1 | c.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=) | |
4 | g.6288984C>T | CA1435766529 | WFS1 | c.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 |
4 | g.6288985A>C | CA356171196 | WFS1 | c.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) | |
4 | g.6288985A>G | CA356171198 | WFS1 | c.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 |
4 | g.6288985A>T | CA356171199 | WFS1 | c.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) | |
4 | g.6288986G>A | CA356171200 | WFS1 | c.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 |
4 | g.6288986G>C | CA356171203 | WFS1 | c.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) | |
4 | g.6288986G>T | CA356171202 | WFS1 | c.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) | |
4 | g.6288987G>A | CA356171205 | WFS1 | c.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 |
4 | g.6288987G>C | CA356171207 | WFS1 | c.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) | |
4 | g.6288987G= | CA1435766532 | WFS1 | c.316G= (p.Val106=) c.306G= c.67G= (p.Val23=) c.115G= (p.Val39=) c.190G= (p.Val64=) n.501G= c.325G= (p.Val109=) | |
4 | g.6288987G>T | CA356171209 | WFS1 | c.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 |
4 | g.6288988T>A | CA356171211 | WFS1 | c.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 |
4 | g.6288988T>C | CA356171213 | WFS1 | c.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) | |
4 | g.6288988T>G | CA356171214 | WFS1 | c.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) | |
4 | g.6288988T= | CA1435766537 | WFS1 | c.317T= (p.Val106=) c.307T= c.68T= (p.Val23=) c.116T= (p.Val39=) c.191T= (p.Val64=) n.502T= c.326T= (p.Val109=) | |
4 | g.6288989G>A | CA2838864 | WFS1 | c.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 |
4 | g.6288989G>C | CA438210747 | WFS1 | c.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=) | |
4 | g.6288989G= | CA1435766542 | WFS1 | c.318G= (p.Val106=) c.308G= c.69G= (p.Val23=) c.117G= (p.Val39=) c.192G= (p.Val64=) n.503G= c.327G= (p.Val109=) | |
4 | g.6288989G>T | CA438210748 | WFS1 | c.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=) | |
4 | g.6288992dup | CA91794305 | WFS1 | c.321dup (p.Lys108GlufsTer12) c.311dup c.72dup (p.Lys25GlufsTer12) c.120dup (p.Lys41GlufsTer12) c.195dup (p.Lys66GlufsTer12) n.506dup c.330dup (p.Lys111GlufsTer12) | dbSNP |
4 | g.6288990G>A | CA356171218 | WFS1 | c.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) | |
4 | g.6288990G>C | CA356171219 | WFS1 | c.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) | |
4 | g.6288990G= | CA1435766545 | WFS1 | c.319G= (p.Gly107=) c.309G= c.70G= (p.Gly24=) c.118G= (p.Gly40=) c.193G= (p.Gly65=) n.504G= c.328G= (p.Gly110=) | |
4 | g.6288990G>T | CA356171221 | WFS1 | c.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 |
4 | g.6288991G>A | CA91794306 | WFS1 | c.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 |
4 | g.6288991G>C | CA356171224 | WFS1 | c.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) | |
4 | g.6288991G= | CA1435766551 | WFS1 | c.320G= (p.Gly107=) c.310G= c.71G= (p.Gly24=) c.119G= (p.Gly40=) c.194G= (p.Gly65=) n.505G= c.329G= (p.Gly110=) | |
4 | g.6288991G>T | CA356171226 | WFS1 | c.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) | |
4 | g.6288992G>A | CA438210749 | WFS1 | c.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 |
4 | g.6288992G>C | CA438210750 | WFS1 | c.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=) | |
4 | g.6288992G= | CA1435766560 | WFS1 | c.321G= (p.Gly107=) c.311G= c.72G= (p.Gly24=) c.120G= (p.Gly40=) c.195G= (p.Gly65=) n.506G= c.330G= (p.Gly110=) | |
4 | g.6288992G>T | CA438210751 | WFS1 | c.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=) | |
4 | g.6288993A= | CA1435766564 | WFS1 | c.322A= (p.Lys108=) c.312A= c.73A= (p.Lys25=) c.121A= (p.Lys41=) c.196A= (p.Lys66=) n.507A= c.331A= (p.Lys111=) | |
4 | g.6288993A>C | CA356171232 | WFS1 | c.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) | |
4 | g.6288993A>G | CA356171228 | WFS1 | c.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 |
4 | g.6288993A>T | CA356171230 | WFS1 | c.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) | |
4 | g.6288994A= | CA1435766566 | WFS1 | c.323A= (p.Lys108=) c.313A= c.74A= (p.Lys25=) c.122A= (p.Lys41=) c.197A= (p.Lys66=) n.508A= c.332A= (p.Lys111=) | |
4 | g.6288994A>C | CA356171234 | WFS1 | c.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) | |
4 | g.6288994A>G | CA91794307 | WFS1 | c.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 |
4 | g.6288994A>T | CA356171237 | WFS1 | c.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) | |
4 | g.6288995G>A | CA438210752 | WFS1 | c.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 |
4 | g.6288995G>C | CA356171239 | WFS1 | c.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) | |
4 | g.6288995G= | CA1435766569 | WFS1 | c.324G= (p.Lys108=) c.314G= c.75G= (p.Lys25=) c.123G= (p.Lys41=) c.198G= (p.Lys66=) n.509G= c.333G= (p.Lys111=) | |
4 | g.6288995G>T | CA356171241 | WFS1 | c.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 |
4 | g.6288996C>A | CA356171243 | WFS1 | c.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 |
4 | g.6288996C= | CA1435766573 | WFS1 | c.325C= (p.His109=) c.315C= c.76C= (p.His26=) c.124C= (p.His42=) c.199C= (p.His67=) n.510C= c.334C= (p.His112=) | |
4 | g.6288996C>G | CA356171245 | WFS1 | c.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) | |
4 | g.6288996C>T | CA179631 | WFS1 | c.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 |
4 | g.6288997_6288998dup | CA2669825533 | WFS1 | c.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 |
4 | g.6288997A= | CA1435766576 | WFS1 | c.326A= (p.His109=) c.316A= c.77A= (p.His26=) c.125A= (p.His42=) c.200A= (p.His67=) n.511A= c.335A= (p.His112=) | |
4 | g.6288997A>C | CA356171247 | WFS1 | c.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) | |
4 | g.6288997A>G | CA2838865 | WFS1 | c.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 |
4 | g.6288997A>T | CA356171249 | WFS1 | c.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) | |
4 | g.6288998C>A | CA356171251 | WFS1 | c.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) | |
4 | g.6288998C>G | CA356171252 | WFS1 | c.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) | |
4 | g.6288998C>T | CA438210753 | WFS1 | c.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 |
4 | g.6288999T>A | CA356171254 | WFS1 | c.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) | |
4 | g.6288999T>C | CA356171258 | WFS1 | c.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) | |
4 | g.6288999T>G | CA356171256 | WFS1 | c.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) | |
4 | g.6289000A>C | CA356171259 | WFS1 | c.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) | |
4 | g.6289000A>G | CA356171261 | WFS1 | c.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) | |
4 | g.6289000A>T | CA356171263 | WFS1 | c.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) | |
4 | g.6289001C>A | CA356171265 | WFS1 | c.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 |
4 | g.6289001C= | CA1435766581 | WFS1 | c.330C= (p.Tyr110=) c.320C= c.81C= (p.Tyr27=) c.129C= (p.Tyr43=) c.204C= (p.Tyr68=) n.515C= c.339C= (p.Tyr113=) | |
4 | g.6289001C>G | CA356171267 | WFS1 | c.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) | |
4 | g.6289001C>T | CA438210754 | WFS1 | c.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=) | |
4 | g.6289002C>A | CA356171269 | WFS1 | c.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) | |
4 | g.6289002C= | CA1435766588 | WFS1 | c.331C= (p.Leu111=) c.321C= c.82C= (p.Leu28=) c.130C= (p.Leu44=) c.205C= (p.Leu69=) n.516C= c.340C= (p.Leu114=) | |
4 | g.6289002C>G | CA356171271 | WFS1 | c.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) | |
4 | g.6289002C>T | CA438210755 | WFS1 | c.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 |
4 | g.6289003T>A | CA356171273 | WFS1 | c.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) | |
4 | g.6289003T>C | CA356171274 | WFS1 | c.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 |
4 | g.6289003T>G | CA356171276 | WFS1 | c.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) | |
4 | g.6289003dup | CA2669825534 | WFS1 | c.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 |
4 | g.6289004G>A | CA2838866 | WFS1 | c.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 |
4 | g.6289004G>C | CA438210756 | WFS1 | c.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=) | |
4 | g.6289004G= | CA1435766591 | WFS1 | c.333G= (p.Leu111=) c.323G= c.84G= (p.Leu28=) c.132G= (p.Leu44=) c.207G= (p.Leu69=) n.518G= c.342G= (p.Leu114=) | |
4 | g.6289004G>T | CA438210757 | WFS1 | c.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 |
4 | g.6289005C>A | CA356171283 | WFS1 | c.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 |
4 | g.6289005C= | CA1435766594 | WFS1 | c.334C= (p.Gln112=) c.324C= c.85C= (p.Gln29=) c.133C= (p.Gln45=) c.208C= (p.Gln70=) n.519C= c.343C= (p.Gln115=) | |
4 | g.6289005C>G | CA356171281 | WFS1 | c.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) | |
4 | g.6289005C>T | CA356171279 | WFS1 | c.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 |
4 | g.6289006A>C | CA356171285 | WFS1 | c.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) | |
4 | g.6289006A>G | CA356171288 | WFS1 | c.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) | |
4 | g.6289006A>T | CA356171290 | WFS1 | c.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) | |
4 | g.6289007G>A | CA438210758 | WFS1 | c.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 |
4 | g.6289007G>C | CA356171292 | WFS1 | c.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) | |
4 | g.6289007G>T | CA356171294 | WFS1 | c.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) | |
4 | g.6289008T>A | CA356171296 | WFS1 | c.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) | |
4 | g.6289008T>C | CA438210759 | WFS1 | c.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 |
4 | g.6289008T>G | CA356171297 | WFS1 | c.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) | |
4 | g.6289009T>A | CA356171300 | WFS1 | c.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) | |
4 | g.6289009T>C | CA356171302 | WFS1 | c.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) | |
4 | g.6289009T>G | CA356171304 | WFS1 | c.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) | |
4 | g.6289010G>A | CA438210760 | WFS1 | c.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=) | |
4 | g.6289010G>C | CA356171306 | WFS1 | c.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) | |
4 | g.6289010G= | CA1435766596 | WFS1 | c.339G= (p.Leu113=) c.329G= c.90G= (p.Leu30=) c.138G= (p.Leu46=) c.213G= (p.Leu71=) n.524G= c.348G= (p.Leu116=) | |
4 | g.6289010G>T | CA91794308 | WFS1 | c.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 |
4 | g.6289011G>A | CA356171309 | WFS1 | c.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) | |
4 | g.6289011G>C | CA356171313 | WFS1 | c.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) | |
4 | g.6289011G>T | CA356171311 | WFS1 | c.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 |
4 | g.6289012C>A | CA356171315 | WFS1 | c.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 |
4 | g.6289012C= | CA1435766600 | WFS1 | c.341C= (p.Ala114=) c.331C= c.92C= (p.Ala31=) c.140C= (p.Ala47=) c.215C= (p.Ala72=) n.526C= c.350C= (p.Ala117=) | |
4 | g.6289012C>G | CA356171319 | WFS1 | c.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 |
4 | g.6289012C>T | CA356171317 | WFS1 | c.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 |
4 | g.6289013C>A | CA438210761 | WFS1 | c.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=) | |
4 | g.6289013C= | CA1435766604 | WFS1 | c.342C= (p.Ala114=) c.332C= c.93C= (p.Ala31=) c.141C= (p.Ala47=) c.216C= (p.Ala72=) n.527C= c.351C= (p.Ala117=) | |
4 | g.6289013C>G | CA438210762 | WFS1 | c.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=) | |
4 | g.6289013C>T | CA2838867 | WFS1 | c.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 |
4 | g.6289014G>A | CA2838868 | WFS1 | c.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 |
4 | g.6289014G>C | CA356171322 | WFS1 | c.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 |
4 | g.6289014G= | CA1435766609 | WFS1 | c.343G= (p.Gly115=) c.333G= c.94G= (p.Gly32=) c.142G= (p.Gly48=) c.217G= (p.Gly73=) n.528G= c.352G= (p.Gly118=) | |
4 | g.6289014G>T | CA356171325 | WFS1 | c.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 |
4 | g.6289015G>A | CA356171327 | WFS1 | c.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 |
4 | g.6289015G>C | CA356171329 | WFS1 | c.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) | |
4 | g.6289015G>T | CA356171330 | WFS1 | c.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) | |
4 | g.6289016C>A | CA438210764 | WFS1 | c.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=) | |
4 | g.6289016C= | CA1435766612 | WFS1 | c.345C= (p.Gly115=) c.335C= c.96C= (p.Gly32=) c.144C= (p.Gly48=) c.219C= (p.Gly73=) n.530C= c.354C= (p.Gly118=) | |
4 | g.6289016C>G | CA438210765 | WFS1 | c.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=) | |
4 | g.6289016C>T | CA2838869 | WFS1 | c.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 |
4 | g.6289017G>A | CA356171334 | WFS1 | c.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 |
4 | g.6289017G>C | CA356171336 | WFS1 | c.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) | |
4 | g.6289017G= | CA1435766614 | WFS1 | c.346G= (p.Asp116=) c.336G= c.97G= (p.Asp33=) c.145G= (p.Asp49=) c.220G= (p.Asp74=) n.531G= c.355G= (p.Asp119=) | |
4 | g.6289017G>T | CA356171337 | WFS1 | c.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 |
4 | g.6289018A>C | CA356171340 | WFS1 | c.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) | |
4 | g.6289018A>G | CA356171342 | WFS1 | c.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) | |
4 | g.6289018A>T | CA356171344 | WFS1 | c.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) | |
4 | g.6289019C>A | CA356171346 | WFS1 | c.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) | |
4 | g.6289019C= | CA1435766616 | WFS1 | c.348C= (p.Asp116=) c.338C= c.99C= (p.Asp33=) c.147C= (p.Asp49=) c.222C= (p.Asp74=) n.533C= c.357C= (p.Asp119=) | |
4 | g.6289019C>G | CA356171348 | WFS1 | c.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) | |
4 | g.6289019C>T | CA438210766 | WFS1 | c.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 |
4 | g.6289020A= | CA1435766621 | WFS1 | c.349A= (p.Thr117=) c.339A= c.100A= (p.Thr34=) c.148A= (p.Thr50=) c.223A= (p.Thr75=) n.534A= c.358A= (p.Thr120=) | |
4 | g.6289020A>C | CA356171353 | WFS1 | c.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) | |
4 | g.6289020A>G | CA2838870 | WFS1 | c.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 |
4 | g.6289020A>T | CA356171351 | WFS1 | c.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) | |
4 | g.6289021del | CA2669825535 | WFS1 | c.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 |
4 | g.6289021C>A | CA356171356 | WFS1 | c.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) | |
4 | g.6289021C= | CA1435766628 | WFS1 | c.350C= (p.Thr117=) c.340C= c.101C= (p.Thr34=) c.149C= (p.Thr50=) c.224C= (p.Thr75=) n.535C= c.359C= (p.Thr120=) | |
4 | g.6289021C>G | CA2838871 | WFS1 | c.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 |
4 | g.6289021C>T | CA282586 | WFS1 | c.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 |
4 | g.6289022G>A | CA91794309 | WFS1 | c.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 |
4 | g.6289022G>C | CA438210767 | WFS1 | c.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 |
4 | g.6289022G= | CA1435766635 | WFS1 | c.351G= (p.Thr117=) c.341G= c.102G= (p.Thr34=) c.150G= (p.Thr50=) c.225G= (p.Thr75=) n.536G= c.360G= (p.Thr120=) | |
4 | g.6289022G>T | CA2838872 | WFS1 | c.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 |
4 | g.6289023G>A | CA356171363 | WFS1 | c.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 |
4 | g.6289023G>C | CA356171365 | WFS1 | c.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 |
4 | g.6289023G= | CA1435766639 | WFS1 | c.352G= (p.Asp118=) c.342G= c.103G= (p.Asp35=) c.151G= (p.Asp51=) c.226G= (p.Asp76=) n.537G= c.361G= (p.Asp121=) | |
4 | g.6289023G>T | CA356171367 | WFS1 | c.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 |
4 | g.6289024A= | CA1435766643 | WFS1 | c.353A= (p.Asp118=) c.343A= c.104A= (p.Asp35=) c.152A= (p.Asp51=) c.227A= (p.Asp76=) n.538A= c.362A= (p.Asp121=) | |
4 | g.6289024A>C | CA295785 | WFS1 | c.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 |
4 | g.6289024A>G | CA356171369 | WFS1 | c.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 |
4 | g.6289024A>T | CA356171371 | WFS1 | c.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) | |
4 | g.6289025T>A | CA356171373 | WFS1 | c.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 |
4 | g.6289025T>C | CA438210768 | WFS1 | c.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 |
4 | g.6289025T>G | CA356171375 | WFS1 | c.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) | |
4 | g.6289025T= | CA1435766646 | WFS1 | c.354T= (p.Asp118=) c.344T= c.105T= (p.Asp35=) c.153T= (p.Asp51=) c.228T= (p.Asp76=) n.539T= c.363T= (p.Asp121=) | |
4 | g.6289026G>A | CA356171377 | WFS1 | c.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) | |
4 | g.6289026G>C | CA356171378 | WFS1 | c.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) | |
4 | g.6289026G>T | CA356171381 | WFS1 | c.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) | |
4 | g.6289027A= | CA1435766647 | WFS1 | c.356A= (p.Glu119=) c.346A= c.107A= (p.Glu36=) c.155A= (p.Glu52=) c.230A= (p.Glu77=) n.541A= c.365A= (p.Glu122=) | |
4 | g.6289027A>C | CA2838873 | WFS1 | c.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 |
4 | g.6289027A>G | CA356171384 | WFS1 | c.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 |
4 | g.6289027A>T | CA356171385 | WFS1 | c.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) | |
4 | g.6289028A>C | CA356171387 | WFS1 | c.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) | |
4 | g.6289028A>G | CA438210769 | WFS1 | c.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 |
4 | g.6289028A>T | CA356171389 | WFS1 | c.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) | |
4 | g.6289029G>A | CA356171391 | WFS1 | c.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 |
4 | g.6289029G>C | CA356171392 | WFS1 | c.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) | |
4 | g.6289029G= | CA1435766653 | WFS1 | c.358G= (p.Glu120=) c.348G= c.109G= (p.Glu37=) c.157G= (p.Glu53=) c.232G= (p.Glu78=) n.543G= c.367G= (p.Glu123=) | |
4 | g.6289029G>T | CA356171394 | WFS1 | c.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) | |
4 | g.6289030A>C | CA356171401 | WFS1 | c.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) | |
4 | g.6289030A>G | CA356171399 | WFS1 | c.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) | |
4 | g.6289030A>T | CA356171397 | WFS1 | c.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) | |
4 | g.6289031A>C | CA356171403 | WFS1 | c.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) | |
4 | g.6289031A>G | CA438210771 | WFS1 | c.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=) | |
4 | g.6289031A>T | CA356171404 | WFS1 | c.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) | |
4 | g.6289032C>A | CA356171406 | WFS1 | c.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 |
4 | g.6289032C= | CA1435766660 | WFS1 | c.361C= (p.Leu121=) c.351C= c.112C= (p.Leu38=) c.160C= (p.Leu54=) c.235C= (p.Leu79=) n.546C= c.370C= (p.Leu124=) | |
4 | g.6289032C>G | CA356171408 | WFS1 | c.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 |
4 | g.6289032C>T | CA356171410 | WFS1 | c.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 |
4 | g.6289033T>A | CA356171412 | WFS1 | c.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) | |
4 | g.6289033T>C | CA356171414 | WFS1 | c.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 |
4 | g.6289033T>G | CA356171416 | WFS1 | c.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) | |
4 | g.6289033T= | CA1435766667 | WFS1 | c.362T= (p.Leu121=) c.352T= c.113T= (p.Leu38=) c.161T= (p.Leu54=) c.236T= (p.Leu79=) n.547T= c.371T= (p.Leu124=) | |
4 | g.6289034C>A | CA438210772 | WFS1 | c.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=) | |
4 | g.6289034C= | CA1435766672 | WFS1 | c.363C= (p.Leu121=) c.353C= c.114C= (p.Leu38=) c.162C= (p.Leu54=) c.237C= (p.Leu79=) n.548C= c.372C= (p.Leu124=) | |
4 | g.6289034C>G | CA438210773 | WFS1 | c.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=) | |
4 | g.6289034C>T | CA2838874 | WFS1 | c.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 |
4 | g.6289035A>C | CA356171419 | WFS1 | c.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 |
4 | g.6289035A>G | CA356171420 | WFS1 | c.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 |
4 | g.6289035A>T | CA356171422 | WFS1 | c.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) | |
4 | g.6289036A>C | CA356171426 | WFS1 | c.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 |
4 | g.6289036A>G | CA356171428 | WFS1 | c.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 |
4 | g.6289036A>T | CA356171424 | WFS1 | c.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) | |
4 | g.6289037C>A | CA356171430 | WFS1 | c.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) | |
4 | g.6289037C>G | CA356171432 | WFS1 | c.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 |
4 | g.6289037C>T | CA438210775 | WFS1 | c.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 |
4 | g.6289038A>C | CA356171434 | WFS1 | c.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) | |
4 | g.6289038A>G | CA356171436 | WFS1 | c.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) | |
4 | g.6289038A>T | CA356171438 | WFS1 | c.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) | |
4 | g.6289039G>A | CA356171445 | WFS1 | c.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) | |
4 | g.6289039G>C | CA356171441 | WFS1 | c.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) | |
4 | g.6289039G>T | CA356171443 | WFS1 | c.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) | |
4 | g.6289040C>A | CA356171447 | WFS1 | c.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) | |
4 | g.6289040C>G | CA356171449 | WFS1 | c.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) | |
4 | g.6289040C>T | CA438210777 | WFS1 | c.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=) | |
4 | g.6289041T>A | CA356171451 | WFS1 | c.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) | |
4 | g.6289041T>C | CA356171453 | WFS1 | c.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) | |
4 | g.6289041T>G | CA356171455 | WFS1 | c.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 |
4 | g.6289041T= | CA1435766681 | WFS1 | c.370T= (p.Cys124=) c.360T= c.121T= (p.Cys41=) c.169T= (p.Cys57=) c.244T= (p.Cys82=) n.555T= c.379T= (p.Cys127=) | |
4 | g.6289042G>A | CA356171461 | WFS1 | c.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 |
4 | g.6289042G>C | CA356171457 | WFS1 | c.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) | |
4 | g.6289042G>T | CA356171459 | WFS1 | c.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) | |
4 | g.6289043C>A | CA356171463 | WFS1 | c.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 |
4 | g.6289043C>G | CA356171465 | WFS1 | c.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) | |
4 | g.6289043C>T | CA438210778 | WFS1 | c.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 |
4 | g.6289044A>C | CA356171466 | WFS1 | c.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) | |
4 | g.6289044A>G | CA356171468 | WFS1 | c.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) | |
4 | g.6289044A>T | CA356171470 | WFS1 | c.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) | |
4 | g.6289045C>A | CA356171472 | WFS1 | c.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) | |
4 | g.6289045C= | CA1435766684 | WFS1 | c.374C= (p.Thr125=) c.364C= c.125C= (p.Thr42=) c.173C= (p.Thr58=) c.248C= (p.Thr83=) n.559C= c.383C= (p.Thr128=) | |
4 | g.6289045C>G | CA356171474 | WFS1 | c.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) | |
4 | g.6289045C>T | CA356171476 | WFS1 | c.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 |
4 | g.6289046C>A | CA2838876 | WFS1 | c.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 |
4 | g.6289046C= | CA1435766690 | WFS1 | c.375C= (p.Thr125=) c.365C= c.126C= (p.Thr42=) c.174C= (p.Thr58=) c.249C= (p.Thr83=) n.560C= c.384C= (p.Thr128=) | |
4 | g.6289046C>G | CA438210781 | WFS1 | c.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=) | |
4 | g.6289046C>T | CA2838875 | WFS1 | c.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 |
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 |