Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.6291169del | CA2578035743 | WFS1 | c.461-28del (n.461-28del) c.451-28del c.212-28del (n.212-28del) c.260-28del (n.260-28del) c.335-28del (n.335-28del) c.58-28del n.646-28del c.470-28del (n.470-28del) | |
4 | g.6291170G>A | CA549707972 | WFS1 | c.461-27G>A (n.461-27G>A) c.451-27G>A c.212-27G>A (n.212-27G>A) c.260-27G>A (n.260-27G>A) c.335-27G>A (n.335-27G>A) c.58-27G>A n.646-27G>A c.470-27G>A (n.470-27G>A) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6291170G= | CA1435768550 | WFS1 | c.461-27G= (n.461-27G=) c.451-27G= c.212-27G= (n.212-27G=) c.260-27G= (n.260-27G=) c.335-27G= (n.335-27G=) c.58-27G= n.646-27G= c.470-27G= (n.470-27G=) | |
4 | g.6291170G>T | CA2669825828 | WFS1 | c.461-27G>T (n.461-27G>T) c.451-27G>T c.212-27G>T (n.212-27G>T) c.260-27G>T (n.260-27G>T) c.335-27G>T (n.335-27G>T) c.58-27G>T n.646-27G>T c.470-27G>T (n.470-27G>T) | gnomAD v4 |
4 | g.6291171G>A | CA1058888625 | WFS1 | c.461-26G>A (n.461-26G>A) c.451-26G>A c.212-26G>A (n.212-26G>A) c.260-26G>A (n.260-26G>A) c.335-26G>A (n.335-26G>A) c.58-26G>A n.646-26G>A c.470-26G>A (n.470-26G>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6291171G= | CA1435768551 | WFS1 | c.461-26G= (n.461-26G=) c.451-26G= c.212-26G= (n.212-26G=) c.260-26G= (n.260-26G=) c.335-26G= (n.335-26G=) c.58-26G= n.646-26G= c.470-26G= (n.470-26G=) | |
4 | g.6291172C>A | CA2669825829 | WFS1 | c.461-25C>A (n.461-25C>A) c.451-25C>A c.212-25C>A (n.212-25C>A) c.260-25C>A (n.260-25C>A) c.335-25C>A (n.335-25C>A) c.58-25C>A n.646-25C>A c.470-25C>A (n.470-25C>A) | gnomAD v4 |
4 | g.6291172C>T | CA2669825830 | WFS1 | c.461-25C>T (n.461-25C>T) c.451-25C>T c.212-25C>T (n.212-25C>T) c.260-25C>T (n.260-25C>T) c.335-25C>T (n.335-25C>T) c.58-25C>T n.646-25C>T c.470-25C>T (n.470-25C>T) | gnomAD v4 |
4 | g.6291173C>G | CA2669825831 | WFS1 | c.461-24C>G (n.461-24C>G) c.451-24C>G c.212-24C>G (n.212-24C>G) c.260-24C>G (n.260-24C>G) c.335-24C>G (n.335-24C>G) c.58-24C>G n.646-24C>G c.470-24C>G (n.470-24C>G) | gnomAD v4 |
4 | g.6291176del | CA2669825832 | WFS1 | c.461-21del (n.461-21del) c.451-21del c.212-21del (n.212-21del) c.260-21del (n.260-21del) c.335-21del (n.335-21del) c.58-21del n.646-21del c.470-21del (n.470-21del) | gnomAD v4 |
4 | g.6291176T>C | CA2669825833 | WFS1 | c.461-21T>C (n.461-21T>C) c.451-21T>C c.212-21T>C (n.212-21T>C) c.260-21T>C (n.260-21T>C) c.335-21T>C (n.335-21T>C) c.58-21T>C n.646-21T>C c.470-21T>C (n.470-21T>C) | gnomAD v4 |
4 | g.6291177G>T | CA2669825834 | WFS1 | c.461-20G>T (n.461-20G>T) c.451-20G>T c.212-20G>T (n.212-20G>T) c.260-20G>T (n.260-20G>T) c.335-20G>T (n.335-20G>T) c.58-20G>T n.646-20G>T c.470-20G>T (n.470-20G>T) | gnomAD v4 |
4 | g.6291178A= | CA1435768552 | WFS1 | c.461-19A= (n.461-19A=) c.451-19A= c.212-19A= (n.212-19A=) c.260-19A= (n.260-19A=) c.335-19A= (n.335-19A=) c.58-19A= n.646-19A= c.470-19A= (n.470-19A=) | |
4 | g.6291178A>G | CA1435768553 | WFS1 | c.461-19A>G (n.461-19A>G) c.451-19A>G c.212-19A>G (n.212-19A>G) c.260-19A>G (n.260-19A>G) c.335-19A>G (n.335-19A>G) c.58-19A>G n.646-19A>G c.470-19A>G (n.470-19A>G) | dbSNP |
4 | g.6291178A>T | CA549707973 | WFS1 | c.461-19A>T (n.461-19A>T) c.451-19A>T c.212-19A>T (n.212-19A>T) c.260-19A>T (n.260-19A>T) c.335-19A>T (n.335-19A>T) c.58-19A>T n.646-19A>T c.470-19A>T (n.470-19A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291179C>G | CA2669825835 | WFS1 | c.461-18C>G (n.461-18C>G) c.451-18C>G c.212-18C>G (n.212-18C>G) c.260-18C>G (n.260-18C>G) c.335-18C>G (n.335-18C>G) c.58-18C>G n.646-18C>G c.470-18C>G (n.470-18C>G) | ClinVar gnomAD v4 |
4 | g.6291180C>G | CA2669825836 | WFS1 | c.461-17C>G (n.461-17C>G) c.451-17C>G c.212-17C>G (n.212-17C>G) c.260-17C>G (n.260-17C>G) c.335-17C>G (n.335-17C>G) c.58-17C>G n.646-17C>G c.470-17C>G (n.470-17C>G) | gnomAD v4 |
4 | g.6291181A>G | CA2669825837 | WFS1 | c.461-16A>G (n.461-16A>G) c.451-16A>G c.212-16A>G (n.212-16A>G) c.260-16A>G (n.260-16A>G) c.335-16A>G (n.335-16A>G) c.58-16A>G n.646-16A>G c.470-16A>G (n.470-16A>G) | gnomAD v4 |
4 | g.6291181_6291182insT | CA2669825838 | WFS1 | c.461-16_461-15insT (n.461-16_461-15insT) c.451-16_451-15insT c.212-16_212-15insT (n.212-16_212-15insT) c.260-16_260-15insT (n.260-16_260-15insT) c.335-16_335-15insT (n.335-16_335-15insT) c.58-16_58-15insT n.646-16_646-15insT c.470-16_470-15insT (n.470-16_470-15insT) | gnomAD v4 |
4 | g.6291182C>A | CA2581403687 | WFS1 | c.461-15C>A (n.461-15C>A) c.451-15C>A c.212-15C>A (n.212-15C>A) c.260-15C>A (n.260-15C>A) c.335-15C>A (n.335-15C>A) c.58-15C>A n.646-15C>A c.470-15C>A (n.470-15C>A) | gnomAD v4 |
4 | g.6291182C= | CA1435768554 | WFS1 | c.461-15C= (n.461-15C=) c.451-15C= c.212-15C= (n.212-15C=) c.260-15C= (n.260-15C=) c.335-15C= (n.335-15C=) c.58-15C= n.646-15C= c.470-15C= (n.470-15C=) | |
4 | g.6291182C>G | CA2581403686 | WFS1 | c.461-15C>G (n.461-15C>G) c.451-15C>G c.212-15C>G (n.212-15C>G) c.260-15C>G (n.260-15C>G) c.335-15C>G (n.335-15C>G) c.58-15C>G n.646-15C>G c.470-15C>G (n.470-15C>G) | |
4 | g.6291182C>T | CA136358 | WFS1 | c.461-15C>T (n.461-15C>T) c.451-15C>T c.212-15C>T (n.212-15C>T) c.260-15C>T (n.260-15C>T) c.335-15C>T (n.335-15C>T) c.58-15C>T n.646-15C>T c.470-15C>T (n.470-15C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291184T>C | CA1058888632 | WFS1 | c.461-13T>C (n.461-13T>C) c.451-13T>C c.212-13T>C (n.212-13T>C) c.260-13T>C (n.260-13T>C) c.335-13T>C (n.335-13T>C) c.58-13T>C n.646-13T>C c.470-13T>C (n.470-13T>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6291184T= | CA1435768555 | WFS1 | c.461-13T= (n.461-13T=) c.451-13T= c.212-13T= (n.212-13T=) c.260-13T= (n.260-13T=) c.335-13T= (n.335-13T=) c.58-13T= n.646-13T= c.470-13T= (n.470-13T=) | |
4 | g.6291185C>A | CA797127442 | WFS1 | c.461-12C>A (n.461-12C>A) c.451-12C>A c.212-12C>A (n.212-12C>A) c.260-12C>A (n.260-12C>A) c.335-12C>A (n.335-12C>A) c.58-12C>A n.646-12C>A c.470-12C>A (n.470-12C>A) | dbSNP gnomAD v4 |
4 | g.6291185C= | CA1435768556 | WFS1 | c.461-12C= (n.461-12C=) c.451-12C= c.212-12C= (n.212-12C=) c.260-12C= (n.260-12C=) c.335-12C= (n.335-12C=) c.58-12C= n.646-12C= c.470-12C= (n.470-12C=) | |
4 | g.6291185C>G | CA1435768557 | WFS1 | c.461-12C>G (n.461-12C>G) c.451-12C>G c.212-12C>G (n.212-12C>G) c.260-12C>G (n.260-12C>G) c.335-12C>G (n.335-12C>G) c.58-12C>G n.646-12C>G c.470-12C>G (n.470-12C>G) | dbSNP |
4 | g.6291185C>T | CA91794570 | WFS1 | c.461-12C>T (n.461-12C>T) c.451-12C>T c.212-12C>T (n.212-12C>T) c.260-12C>T (n.260-12C>T) c.335-12C>T (n.335-12C>T) c.58-12C>T n.646-12C>T c.470-12C>T (n.470-12C>T) | dbSNP gnomAD v4 |
4 | g.6291186C>G | CA2669825839 | WFS1 | c.461-11C>G (n.461-11C>G) c.451-11C>G c.212-11C>G (n.212-11C>G) c.260-11C>G (n.260-11C>G) c.335-11C>G (n.335-11C>G) c.58-11C>G n.646-11C>G c.470-11C>G (n.470-11C>G) | gnomAD v4 |
4 | g.6291186C>T | CA2578035745 | WFS1 | c.461-11C>T (n.461-11C>T) c.451-11C>T c.212-11C>T (n.212-11C>T) c.260-11C>T (n.260-11C>T) c.335-11C>T (n.335-11C>T) c.58-11C>T n.646-11C>T c.470-11C>T (n.470-11C>T) | |
4 | g.6291187T>C | CA1435768559 | WFS1 | c.461-10T>C (n.461-10T>C) c.451-10T>C c.212-10T>C (n.212-10T>C) c.260-10T>C (n.260-10T>C) c.335-10T>C (n.335-10T>C) c.58-10T>C n.646-10T>C c.470-10T>C (n.470-10T>C) | dbSNP |
4 | g.6291187T= | CA1435768558 | WFS1 | c.461-10T= (n.461-10T=) c.451-10T= c.212-10T= (n.212-10T=) c.260-10T= (n.260-10T=) c.335-10T= (n.335-10T=) c.58-10T= n.646-10T= c.470-10T= (n.470-10T=) | |
4 | g.6291188A= | CA1435768560 | WFS1 | c.461-9A= (n.461-9A=) c.451-9A= c.212-9A= (n.212-9A=) c.260-9A= (n.260-9A=) c.335-9A= (n.335-9A=) c.58-9A= n.646-9A= c.470-9A= (n.470-9A=) | |
4 | g.6291188A>C | CA2580581746 | WFS1 | c.461-9A>C (n.461-9A>C) c.451-9A>C c.212-9A>C (n.212-9A>C) c.260-9A>C (n.260-9A>C) c.335-9A>C (n.335-9A>C) c.58-9A>C n.646-9A>C c.470-9A>C (n.470-9A>C) | |
4 | g.6291188A>G | CA116905 | WFS1 | c.461-9A>G (n.461-9A>G) c.451-9A>G c.212-9A>G (n.212-9A>G) c.260-9A>G (n.260-9A>G) c.335-9A>G (n.335-9A>G) c.58-9A>G n.646-9A>G c.470-9A>G (n.470-9A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291188A>T | CA2580581747 | WFS1 | c.461-9A>T (n.461-9A>T) c.451-9A>T c.212-9A>T (n.212-9A>T) c.260-9A>T (n.260-9A>T) c.335-9A>T (n.335-9A>T) c.58-9A>T n.646-9A>T c.470-9A>T (n.470-9A>T) | gnomAD v4 |
4 | g.6291190C>A | CA2669825840 | WFS1 | c.461-7C>A (n.461-7C>A) c.451-7C>A c.212-7C>A (n.212-7C>A) c.260-7C>A (n.260-7C>A) c.335-7C>A (n.335-7C>A) c.58-7C>A n.646-7C>A c.470-7C>A (n.470-7C>A) | gnomAD v4 |
4 | g.6291190C>T | CA2573138317 | WFS1 | c.461-7C>T (n.461-7C>T) c.451-7C>T c.212-7C>T (n.212-7C>T) c.260-7C>T (n.260-7C>T) c.335-7C>T (n.335-7C>T) c.58-7C>T n.646-7C>T c.470-7C>T (n.470-7C>T) | ClinVar dbSNP gnomAD v4 |
4 | g.6291191C>A | CA2580071766 | WFS1 | c.461-6C>A (n.461-6C>A) c.451-6C>A c.212-6C>A (n.212-6C>A) c.260-6C>A (n.260-6C>A) c.335-6C>A (n.335-6C>A) c.58-6C>A n.646-6C>A c.470-6C>A (n.470-6C>A) | ClinVar |
4 | g.6291191C>T | CA2669825841 | WFS1 | c.461-6C>T (n.461-6C>T) c.451-6C>T c.212-6C>T (n.212-6C>T) c.260-6C>T (n.260-6C>T) c.335-6C>T (n.335-6C>T) c.58-6C>T n.646-6C>T c.470-6C>T (n.470-6C>T) | gnomAD v4 |
4 | g.6291192C= | CA1435768561 | WFS1 | c.461-5C= (n.461-5C=) c.451-5C= c.212-5C= (n.212-5C=) c.260-5C= (n.260-5C=) c.335-5C= (n.335-5C=) c.58-5C= n.646-5C= c.470-5C= (n.470-5C=) | |
4 | g.6291192C>T | CA549707974 | WFS1 | c.461-5C>T (n.461-5C>T) c.451-5C>T c.212-5C>T (n.212-5C>T) c.260-5C>T (n.260-5C>T) c.335-5C>T (n.335-5C>T) c.58-5C>T n.646-5C>T c.470-5C>T (n.470-5C>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6291193T>C | CA2669825842 | WFS1 | c.461-4T>C (n.461-4T>C) c.451-4T>C c.212-4T>C (n.212-4T>C) c.260-4T>C (n.260-4T>C) c.335-4T>C (n.335-4T>C) c.58-4T>C n.646-4T>C c.470-4T>C (n.470-4T>C) | gnomAD v4 |
4 | g.6291194C>A | CA2669825843 | WFS1 | c.461-3C>A (n.461-3C>A) c.451-3C>A c.212-3C>A (n.212-3C>A) c.260-3C>A (n.260-3C>A) c.335-3C>A (n.335-3C>A) c.58-3C>A n.646-3C>A c.470-3C>A (n.470-3C>A) | gnomAD v4 |
4 | g.6291194C= | CA1435768562 | WFS1 | c.461-3C= (n.461-3C=) c.451-3C= c.212-3C= (n.212-3C=) c.260-3C= (n.260-3C=) c.335-3C= (n.335-3C=) c.58-3C= n.646-3C= c.470-3C= (n.470-3C=) | |
4 | g.6291194C>G | CA2838909 | WFS1 | c.461-3C>G (n.461-3C>G) c.451-3C>G c.212-3C>G (n.212-3C>G) c.260-3C>G (n.260-3C>G) c.335-3C>G (n.335-3C>G) c.58-3C>G n.646-3C>G c.470-3C>G (n.470-3C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6291194C>T | CA1435768563 | WFS1 | c.461-3C>T (n.461-3C>T) c.451-3C>T c.212-3C>T (n.212-3C>T) c.260-3C>T (n.260-3C>T) c.335-3C>T (n.335-3C>T) c.58-3C>T n.646-3C>T c.470-3C>T (n.470-3C>T) | dbSNP |
4 | g.6291195A>C | CA356171825 | WFS1 | c.461-2A>C (n.461-2A>C) c.451-2A>C c.212-2A>C (n.212-2A>C) c.260-2A>C (n.260-2A>C) c.335-2A>C (n.335-2A>C) c.58-2A>C n.646-2A>C c.470-2A>C (n.470-2A>C) | gnomAD v4 |
4 | g.6291195A>G | CA356171824 | WFS1 | c.461-2A>G (n.461-2A>G) c.451-2A>G c.212-2A>G (n.212-2A>G) c.260-2A>G (n.260-2A>G) c.335-2A>G (n.335-2A>G) c.58-2A>G n.646-2A>G c.470-2A>G (n.470-2A>G) | |
4 | g.6291195A>T | CA356171823 | WFS1 | c.461-2A>T (n.461-2A>T) c.451-2A>T c.212-2A>T (n.212-2A>T) c.260-2A>T (n.260-2A>T) c.335-2A>T (n.335-2A>T) c.58-2A>T n.646-2A>T c.470-2A>T (n.470-2A>T) | |
4 | g.6291196G>A | CA356171826 | WFS1 | c.461-1G>A (n.461-1G>A) c.451-1G>A c.212-1G>A (n.212-1G>A) c.260-1G>A (n.260-1G>A) c.335-1G>A (n.335-1G>A) c.58-1G>A n.646-1G>A c.470-1G>A (n.470-1G>A) | |
4 | g.6291196G>C | CA356171827 | WFS1 | c.461-1G>C (n.461-1G>C) c.451-1G>C c.212-1G>C (n.212-1G>C) c.260-1G>C (n.260-1G>C) c.335-1G>C (n.335-1G>C) c.58-1G>C n.646-1G>C c.470-1G>C (n.470-1G>C) | |
4 | g.6291196G= | CA1435768564 | WFS1 | c.461-1G= (n.461-1G=) c.451-1G= c.212-1G= (n.212-1G=) c.260-1G= (n.260-1G=) c.335-1G= (n.335-1G=) c.58-1G= n.646-1G= c.470-1G= (n.470-1G=) | |
4 | g.6291196G>T | CA356171828 | WFS1 | c.461-1G>T (n.461-1G>T) c.451-1G>T c.212-1G>T (n.212-1G>T) c.260-1G>T (n.260-1G>T) c.335-1G>T (n.335-1G>T) c.58-1G>T n.646-1G>T c.470-1G>T (n.470-1G>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6291197G>A | CA356171829 | WFS1 | c.461G>A (p.Gly154Asp) c.451G>A c.212G>A (p.Gly71Asp) c.260G>A (p.Gly87Asp) c.335G>A (p.Gly112Asp) c.58G>A n.646G>A c.470G>A (p.Gly157Asp) | |
4 | g.6291197G>C | CA91794571 | WFS1 | c.461G>C (p.Gly154Ala) c.451G>C c.212G>C (p.Gly71Ala) c.260G>C (p.Gly87Ala) c.335G>C (p.Gly112Ala) c.58G>C n.646G>C c.470G>C (p.Gly157Ala) | dbSNP |
4 | g.6291197G= | CA1435768565 | WFS1 | c.461G= (p.Gly154=) c.451G= c.212G= (p.Gly71=) c.260G= (p.Gly87=) c.335G= (p.Gly112=) c.58G= n.646G= c.470G= (p.Gly157=) | |
4 | g.6291197G>T | CA356171830 | WFS1 | c.461G>T (p.Gly154Val) c.451G>T c.212G>T (p.Gly71Val) c.260G>T (p.Gly87Val) c.335G>T (p.Gly112Val) c.58G>T n.646G>T c.470G>T (p.Gly157Val) | gnomAD v4 |
4 | g.6291198C>A | CA438210926 | WFS1 | c.462C>A (p.Gly154=) c.452C>A c.213C>A (p.Gly71=) c.261C>A (p.Gly87=) c.336C>A (p.Gly112=) c.59C>A n.647C>A c.471C>A (p.Gly157=) | |
4 | g.6291198C>G | CA438210927 | WFS1 | c.462C>G (p.Gly154=) c.452C>G c.213C>G (p.Gly71=) c.261C>G (p.Gly87=) c.336C>G (p.Gly112=) c.59C>G n.647C>G c.471C>G (p.Gly157=) | |
4 | g.6291198C>T | CA438210928 | WFS1 | c.462C>T (p.Gly154=) c.452C>T c.213C>T (p.Gly71=) c.261C>T (p.Gly87=) c.336C>T (p.Gly112=) c.59C>T n.647C>T c.471C>T (p.Gly157=) | |
4 | g.6291199A>C | CA356171831 | WFS1 | c.463A>C (p.Ile155Leu) c.453A>C c.214A>C (p.Ile72Leu) c.262A>C (p.Ile88Leu) c.337A>C (p.Ile113Leu) c.60A>C n.648A>C c.472A>C (p.Ile158Leu) | |
4 | g.6291199A>G | CA356171832 | WFS1 | c.463A>G (p.Ile155Val) c.453A>G c.214A>G (p.Ile72Val) c.262A>G (p.Ile88Val) c.337A>G (p.Ile113Val) c.60A>G n.648A>G c.472A>G (p.Ile158Val) | ClinVar dbSNP gnomAD v4 |
4 | g.6291199A>T | CA356171833 | WFS1 | c.463A>T (p.Ile155Phe) c.453A>T c.214A>T (p.Ile72Phe) c.262A>T (p.Ile88Phe) c.337A>T (p.Ile113Phe) c.60A>T n.648A>T c.472A>T (p.Ile158Phe) | |
4 | g.6291200T>A | CA356171834 | WFS1 | c.464T>A (p.Ile155Asn) c.454T>A c.215T>A (p.Ile72Asn) c.263T>A (p.Ile88Asn) c.338T>A (p.Ile113Asn) c.61T>A n.649T>A c.473T>A (p.Ile158Asn) | |
4 | g.6291200T>C | CA356171835 | WFS1 | c.464T>C (p.Ile155Thr) c.454T>C c.215T>C (p.Ile72Thr) c.263T>C (p.Ile88Thr) c.338T>C (p.Ile113Thr) c.61T>C n.649T>C c.473T>C (p.Ile158Thr) | |
4 | g.6291200T>G | CA356171836 | WFS1 | c.464T>G (p.Ile155Ser) c.454T>G c.215T>G (p.Ile72Ser) c.263T>G (p.Ile88Ser) c.338T>G (p.Ile113Ser) c.61T>G n.649T>G c.473T>G (p.Ile158Ser) | |
4 | g.6291201C>A | CA438210929 | WFS1 | c.465C>A (p.Ile155=) c.455C>A c.216C>A (p.Ile72=) c.264C>A (p.Ile88=) c.339C>A (p.Ile113=) c.62C>A n.650C>A c.474C>A (p.Ile158=) | |
4 | g.6291201C>G | CA356171837 | WFS1 | c.465C>G (p.Ile155Met) c.455C>G c.216C>G (p.Ile72Met) c.264C>G (p.Ile88Met) c.339C>G (p.Ile113Met) c.62C>G n.650C>G c.474C>G (p.Ile158Met) | |
4 | g.6291201C>T | CA438210930 | WFS1 | c.465C>T (p.Ile155=) c.455C>T c.216C>T (p.Ile72=) c.264C>T (p.Ile88=) c.339C>T (p.Ile113=) c.62C>T n.650C>T c.474C>T (p.Ile158=) | |
4 | g.6291202A>C | CA356171839 | WFS1 | c.466A>C (p.Thr156Pro) c.456A>C c.217A>C (p.Thr73Pro) c.265A>C (p.Thr89Pro) c.340A>C (p.Thr114Pro) c.63A>C n.651A>C c.475A>C (p.Thr159Pro) | |
4 | g.6291202A>G | CA356171840 | WFS1 | c.466A>G (p.Thr156Ala) c.456A>G c.217A>G (p.Thr73Ala) c.265A>G (p.Thr89Ala) c.340A>G (p.Thr114Ala) c.63A>G n.651A>G c.475A>G (p.Thr159Ala) | gnomAD v4 |
4 | g.6291202A>T | CA356171838 | WFS1 | c.466A>T (p.Thr156Ser) c.456A>T c.217A>T (p.Thr73Ser) c.265A>T (p.Thr89Ser) c.340A>T (p.Thr114Ser) c.63A>T n.651A>T c.475A>T (p.Thr159Ser) | |
4 | g.6291203C>A | CA356171842 | WFS1 | c.467C>A (p.Thr156Lys) c.457C>A c.218C>A (p.Thr73Lys) c.266C>A (p.Thr89Lys) c.341C>A (p.Thr114Lys) c.64C>A n.652C>A c.476C>A (p.Thr159Lys) | |
4 | g.6291203C= | CA1435768566 | WFS1 | c.467C= (p.Thr156=) c.457C= c.218C= (p.Thr73=) c.266C= (p.Thr89=) c.341C= (p.Thr114=) c.64C= n.652C= c.476C= (p.Thr159=) | |
4 | g.6291203C>G | CA356171841 | WFS1 | c.467C>G (p.Thr156Arg) c.457C>G c.218C>G (p.Thr73Arg) c.266C>G (p.Thr89Arg) c.341C>G (p.Thr114Arg) c.64C>G n.652C>G c.476C>G (p.Thr159Arg) | |
4 | g.6291203C>T | CA2838910 | WFS1 | c.467C>T (p.Thr156Met) c.457C>T c.218C>T (p.Thr73Met) c.266C>T (p.Thr89Met) c.341C>T (p.Thr114Met) c.64C>T n.652C>T c.476C>T (p.Thr159Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291204G>A | CA2838912 | WFS1 | c.468G>A (p.Thr156=) c.458G>A c.219G>A (p.Thr73=) c.267G>A (p.Thr89=) c.342G>A (p.Thr114=) c.65G>A n.653G>A c.477G>A (p.Thr159=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291204G>C | CA438210931 | WFS1 | c.468G>C (p.Thr156=) c.458G>C c.219G>C (p.Thr73=) c.267G>C (p.Thr89=) c.342G>C (p.Thr114=) c.65G>C n.653G>C c.477G>C (p.Thr159=) | |
4 | g.6291204G= | CA1435768567 | WFS1 | c.468G= (p.Thr156=) c.458G= c.219G= (p.Thr73=) c.267G= (p.Thr89=) c.342G= (p.Thr114=) c.65G= n.653G= c.477G= (p.Thr159=) | |
4 | g.6291204G>T | CA2838911 | WFS1 | c.468G>T (p.Thr156=) c.458G>T c.219G>T (p.Thr73=) c.267G>T (p.Thr89=) c.342G>T (p.Thr114=) c.65G>T n.653G>T c.477G>T (p.Thr159=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291205T>A | CA356171843 | WFS1 | c.469T>A (p.Ser157Thr) c.459T>A c.220T>A (p.Ser74Thr) c.268T>A (p.Ser90Thr) c.343T>A (p.Ser115Thr) c.66T>A n.654T>A c.478T>A (p.Ser160Thr) | |
4 | g.6291205T>C | CA356171844 | WFS1 | c.469T>C (p.Ser157Pro) c.459T>C c.220T>C (p.Ser74Pro) c.268T>C (p.Ser90Pro) c.343T>C (p.Ser115Pro) c.66T>C n.654T>C c.478T>C (p.Ser160Pro) | |
4 | g.6291205T>G | CA356171845 | WFS1 | c.469T>G (p.Ser157Ala) c.459T>G c.220T>G (p.Ser74Ala) c.268T>G (p.Ser90Ala) c.343T>G (p.Ser115Ala) c.66T>G n.654T>G c.478T>G (p.Ser160Ala) | |
4 | g.6291206C>A | CA356171846 | WFS1 | c.470C>A (p.Ser157Tyr) c.460C>A c.221C>A (p.Ser74Tyr) c.269C>A (p.Ser90Tyr) c.344C>A (p.Ser115Tyr) c.67C>A n.655C>A c.479C>A (p.Ser160Tyr) | |
4 | g.6291206C>G | CA356171847 | WFS1 | c.470C>G (p.Ser157Cys) c.460C>G c.221C>G (p.Ser74Cys) c.269C>G (p.Ser90Cys) c.344C>G (p.Ser115Cys) c.67C>G n.655C>G c.479C>G (p.Ser160Cys) | |
4 | g.6291206C>T | CA356171848 | WFS1 | c.470C>T (p.Ser157Phe) c.460C>T c.221C>T (p.Ser74Phe) c.269C>T (p.Ser90Phe) c.344C>T (p.Ser115Phe) c.67C>T n.655C>T c.479C>T (p.Ser160Phe) | |
4 | g.6291207C>A | CA438210932 | WFS1 | c.471C>A (p.Ser157=) c.461C>A c.222C>A (p.Ser74=) c.270C>A (p.Ser90=) c.345C>A (p.Ser115=) c.68C>A n.656C>A c.480C>A (p.Ser160=) | |
4 | g.6291207C= | CA1435768568 | WFS1 | c.471C= (p.Ser157=) c.461C= c.222C= (p.Ser74=) c.270C= (p.Ser90=) c.345C= (p.Ser115=) c.68C= n.656C= c.480C= (p.Ser160=) | |
4 | g.6291207C>G | CA2838914 | WFS1 | c.471C>G (p.Ser157=) c.461C>G c.222C>G (p.Ser74=) c.270C>G (p.Ser90=) c.345C>G (p.Ser115=) c.68C>G n.656C>G c.480C>G (p.Ser160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291207C>T | CA2838913 | WFS1 | c.471C>T (p.Ser157=) c.461C>T c.222C>T (p.Ser74=) c.270C>T (p.Ser90=) c.345C>T (p.Ser115=) c.68C>T n.656C>T c.480C>T (p.Ser160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6291208G>A | CA2838915 | WFS1 | c.472G>A (p.Glu158Lys) c.462G>A c.223G>A (p.Glu75Lys) c.271G>A (p.Glu91Lys) c.346G>A (p.Glu116Lys) c.69G>A n.657G>A c.481G>A (p.Glu161Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291208G>C | CA356171849 | WFS1 | c.472G>C (p.Glu158Gln) c.462G>C c.223G>C (p.Glu75Gln) c.271G>C (p.Glu91Gln) c.346G>C (p.Glu116Gln) c.69G>C n.657G>C c.481G>C (p.Glu161Gln) | |
4 | g.6291208G= | CA1435768569 | WFS1 | c.472G= (p.Glu158=) c.462G= c.223G= (p.Glu75=) c.271G= (p.Glu91=) c.346G= (p.Glu116=) c.69G= n.657G= c.481G= (p.Glu161=) | |
4 | g.6291208G>T | CA356171850 | WFS1 | c.472G>T (p.Glu158Ter) c.462G>T c.223G>T (p.Glu75Ter) c.271G>T (p.Glu91Ter) c.346G>T (p.Glu116Ter) c.69G>T n.657G>T c.481G>T (p.Glu161Ter) | |
4 | g.6291209A>C | CA356171851 | WFS1 | c.473A>C (p.Glu158Ala) c.463A>C c.224A>C (p.Glu75Ala) c.272A>C (p.Glu91Ala) c.347A>C (p.Glu116Ala) c.70A>C n.658A>C c.482A>C (p.Glu161Ala) | |
4 | g.6291209A>G | CA356171852 | WFS1 | c.473A>G (p.Glu158Gly) c.463A>G c.224A>G (p.Glu75Gly) c.272A>G (p.Glu91Gly) c.347A>G (p.Glu116Gly) c.70A>G n.658A>G c.482A>G (p.Glu161Gly) | |
4 | g.6291209A>T | CA356171853 | WFS1 | c.473A>T (p.Glu158Val) c.463A>T c.224A>T (p.Glu75Val) c.272A>T (p.Glu91Val) c.347A>T (p.Glu116Val) c.70A>T n.658A>T c.482A>T (p.Glu161Val) | |
4 | g.6291210G>A | CA2838916 | WFS1 | c.474G>A (p.Glu158=) c.464G>A c.225G>A (p.Glu75=) c.273G>A (p.Glu91=) c.348G>A (p.Glu116=) c.71G>A n.659G>A c.483G>A (p.Glu161=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291210G>C | CA356171854 | WFS1 | c.474G>C (p.Glu158Asp) c.464G>C c.225G>C (p.Glu75Asp) c.273G>C (p.Glu91Asp) c.348G>C (p.Glu116Asp) c.71G>C n.659G>C c.483G>C (p.Glu161Asp) | |
4 | g.6291210G= | CA1435768570 | WFS1 | c.474G= (p.Glu158=) c.464G= c.225G= (p.Glu75=) c.273G= (p.Glu91=) c.348G= (p.Glu116=) c.71G= n.659G= c.483G= (p.Glu161=) | |
4 | g.6291210G>T | CA356171855 | WFS1 | c.474G>T (p.Glu158Asp) c.464G>T c.225G>T (p.Glu75Asp) c.273G>T (p.Glu91Asp) c.348G>T (p.Glu116Asp) c.71G>T n.659G>T c.483G>T (p.Glu161Asp) | gnomAD v4 COSMIC |
4 | g.6291211A>C | CA356171856 | WFS1 | c.475A>C (p.Asn159His) c.465A>C c.226A>C (p.Asn76His) c.274A>C (p.Asn92His) c.349A>C (p.Asn117His) c.72A>C n.660A>C c.484A>C (p.Asn162His) | |
4 | g.6291211A>G | CA356171857 | WFS1 | c.475A>G (p.Asn159Asp) c.465A>G c.226A>G (p.Asn76Asp) c.274A>G (p.Asn92Asp) c.349A>G (p.Asn117Asp) c.72A>G n.660A>G c.484A>G (p.Asn162Asp) | |
4 | g.6291211A>T | CA356171858 | WFS1 | c.475A>T (p.Asn159Tyr) c.465A>T c.226A>T (p.Asn76Tyr) c.274A>T (p.Asn92Tyr) c.349A>T (p.Asn117Tyr) c.72A>T n.660A>T c.484A>T (p.Asn162Tyr) | |
4 | g.6291212A= | CA1435768571 | WFS1 | c.476A= (p.Asn159=) c.466A= c.227A= (p.Asn76=) c.275A= (p.Asn92=) c.350A= (p.Asn117=) c.73A= n.661A= c.485A= (p.Asn162=) | |
4 | g.6291212A>C | CA356171859 | WFS1 | c.476A>C (p.Asn159Thr) c.466A>C c.227A>C (p.Asn76Thr) c.275A>C (p.Asn92Thr) c.350A>C (p.Asn117Thr) c.73A>C n.661A>C c.485A>C (p.Asn162Thr) | |
4 | g.6291212A>G | CA2838917 | WFS1 | c.476A>G (p.Asn159Ser) c.466A>G c.227A>G (p.Asn76Ser) c.275A>G (p.Asn92Ser) c.350A>G (p.Asn117Ser) c.73A>G n.661A>G c.485A>G (p.Asn162Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6291212A>T | CA356171860 | WFS1 | c.476A>T (p.Asn159Ile) c.466A>T c.227A>T (p.Asn76Ile) c.275A>T (p.Asn92Ile) c.350A>T (p.Asn117Ile) c.73A>T n.661A>T c.485A>T (p.Asn162Ile) | |
4 | g.6291213C>A | CA356171861 | WFS1 | c.477C>A (p.Asn159Lys) c.467C>A c.228C>A (p.Asn76Lys) c.276C>A (p.Asn92Lys) c.351C>A (p.Asn117Lys) c.74C>A n.662C>A c.486C>A (p.Asn162Lys) | |
4 | g.6291213C= | CA1435768572 | WFS1 | c.477C= (p.Asn159=) c.467C= c.228C= (p.Asn76=) c.276C= (p.Asn92=) c.351C= (p.Asn117=) c.74C= n.662C= c.486C= (p.Asn162=) | |
4 | g.6291213C>G | CA356171862 | WFS1 | c.477C>G (p.Asn159Lys) c.467C>G c.228C>G (p.Asn76Lys) c.276C>G (p.Asn92Lys) c.351C>G (p.Asn117Lys) c.74C>G n.662C>G c.486C>G (p.Asn162Lys) | |
4 | g.6291213C>T | CA2838918 | WFS1 | c.477C>T (p.Asn159=) c.467C>T c.228C>T (p.Asn76=) c.276C>T (p.Asn92=) c.351C>T (p.Asn117=) c.74C>T n.662C>T c.486C>T (p.Asn162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6291214G>A | CA356171863 | WFS1 | c.478G>A (p.Glu160Lys) c.468G>A c.229G>A (p.Glu77Lys) c.277G>A (p.Glu93Lys) c.352G>A (p.Glu118Lys) c.75G>A n.663G>A c.487G>A (p.Glu163Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291214G>C | CA356171864 | WFS1 | c.478G>C (p.Glu160Gln) c.468G>C c.229G>C (p.Glu77Gln) c.277G>C (p.Glu93Gln) c.352G>C (p.Glu118Gln) c.75G>C n.663G>C c.487G>C (p.Glu163Gln) | |
4 | g.6291214G= | CA1435768573 | WFS1 | c.478G= (p.Glu160=) c.468G= c.229G= (p.Glu77=) c.277G= (p.Glu93=) c.352G= (p.Glu118=) c.75G= n.663G= c.487G= (p.Glu163=) | |
4 | g.6291214G>T | CA356171865 | WFS1 | c.478G>T (p.Glu160Ter) c.468G>T c.229G>T (p.Glu77Ter) c.277G>T (p.Glu93Ter) c.352G>T (p.Glu118Ter) c.75G>T n.663G>T c.487G>T (p.Glu163Ter) | gnomAD v4 |
4 | g.6291215A>C | CA356171866 | WFS1 | c.479A>C (p.Glu160Ala) c.469A>C c.230A>C (p.Glu77Ala) c.278A>C (p.Glu93Ala) c.353A>C (p.Glu118Ala) c.76A>C n.664A>C c.488A>C (p.Glu163Ala) | |
4 | g.6291215A>G | CA356171867 | WFS1 | c.479A>G (p.Glu160Gly) c.469A>G c.230A>G (p.Glu77Gly) c.278A>G (p.Glu93Gly) c.353A>G (p.Glu118Gly) c.76A>G n.664A>G c.488A>G (p.Glu163Gly) | gnomAD v4 |
4 | g.6291215A>T | CA356171868 | WFS1 | c.479A>T (p.Glu160Val) c.469A>T c.230A>T (p.Glu77Val) c.278A>T (p.Glu93Val) c.353A>T (p.Glu118Val) c.76A>T n.664A>T c.488A>T (p.Glu163Val) | dbSNP |
4 | g.6291216A= | CA1435768574 | WFS1 | c.480A= (p.Glu160=) c.470A= c.231A= (p.Glu77=) c.279A= (p.Glu93=) c.354A= (p.Glu118=) c.77A= n.665A= c.489A= (p.Glu163=) | |
4 | g.6291216A>C | CA356171869 | WFS1 | c.480A>C (p.Glu160Asp) c.470A>C c.231A>C (p.Glu77Asp) c.279A>C (p.Glu93Asp) c.354A>C (p.Glu118Asp) c.77A>C n.665A>C c.489A>C (p.Glu163Asp) | |
4 | g.6291216A>G | CA438210933 | WFS1 | c.480A>G (p.Glu160=) c.470A>G c.231A>G (p.Glu77=) c.279A>G (p.Glu93=) c.354A>G (p.Glu118=) c.77A>G n.665A>G c.489A>G (p.Glu163=) | dbSNP |
4 | g.6291216A>T | CA356171870 | WFS1 | c.480A>T (p.Glu160Asp) c.470A>T c.231A>T (p.Glu77Asp) c.279A>T (p.Glu93Asp) c.354A>T (p.Glu118Asp) c.77A>T n.665A>T c.489A>T (p.Glu163Asp) | |
4 | g.6291217C>A | CA438210934 | WFS1 | c.481C>A (p.Arg161=) c.471C>A c.232C>A (p.Arg78=) c.280C>A (p.Arg94=) c.355C>A (p.Arg119=) c.78C>A n.666C>A c.490C>A (p.Arg164=) | |
4 | g.6291217C= | CA1435768575 | WFS1 | c.481C= (p.Arg161=) c.471C= c.232C= (p.Arg78=) c.280C= (p.Arg94=) c.355C= (p.Arg119=) c.78C= n.666C= c.490C= (p.Arg164=) | |
4 | g.6291217C>G | CA356171871 | WFS1 | c.481C>G (p.Arg161Gly) c.471C>G c.232C>G (p.Arg78Gly) c.280C>G (p.Arg94Gly) c.355C>G (p.Arg119Gly) c.78C>G n.666C>G c.490C>G (p.Arg164Gly) | gnomAD v4 |
4 | g.6291217C>T | CA2838919 | WFS1 | c.481C>T (p.Arg161Trp) c.471C>T c.232C>T (p.Arg78Trp) c.280C>T (p.Arg94Trp) c.355C>T (p.Arg119Trp) c.78C>T n.666C>T c.490C>T (p.Arg164Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6291218G>A | CA295568 | WFS1 | c.482G>A (p.Arg161Gln) c.472G>A c.233G>A (p.Arg78Gln) c.281G>A (p.Arg94Gln) c.356G>A (p.Arg119Gln) c.79G>A n.667G>A c.491G>A (p.Arg164Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291218G>C | CA356171872 | WFS1 | c.482G>C (p.Arg161Pro) c.472G>C c.233G>C (p.Arg78Pro) c.281G>C (p.Arg94Pro) c.356G>C (p.Arg119Pro) c.79G>C n.667G>C c.491G>C (p.Arg164Pro) | gnomAD v4 |
4 | g.6291218G= | CA1435768576 | WFS1 | c.482G= (p.Arg161=) c.472G= c.233G= (p.Arg78=) c.281G= (p.Arg94=) c.356G= (p.Arg119=) c.79G= n.667G= c.491G= (p.Arg164=) | |
4 | g.6291218G>T | CA356171873 | WFS1 | c.482G>T (p.Arg161Leu) c.472G>T c.233G>T (p.Arg78Leu) c.281G>T (p.Arg94Leu) c.356G>T (p.Arg119Leu) c.79G>T n.667G>T c.491G>T (p.Arg164Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291219G>A | CA438210935 | WFS1 | c.483G>A (p.Arg161=) c.473G>A c.234G>A (p.Arg78=) c.282G>A (p.Arg94=) c.357G>A (p.Arg119=) c.80G>A n.668G>A c.492G>A (p.Arg164=) | |
4 | g.6291219G>C | CA438210937 | WFS1 | c.483G>C (p.Arg161=) c.473G>C c.234G>C (p.Arg78=) c.282G>C (p.Arg94=) c.357G>C (p.Arg119=) c.80G>C n.668G>C c.492G>C (p.Arg164=) | |
4 | g.6291219G>T | CA438210936 | WFS1 | c.483G>T (p.Arg161=) c.473G>T c.234G>T (p.Arg78=) c.282G>T (p.Arg94=) c.357G>T (p.Arg119=) c.80G>T n.668G>T c.492G>T (p.Arg164=) | ClinVar |
4 | g.6291220G>A | CA356171876 | WFS1 | c.484G>A (p.Glu162Lys) c.474G>A c.235G>A (p.Glu79Lys) c.283G>A (p.Glu95Lys) c.358G>A (p.Glu120Lys) c.81G>A n.669G>A c.493G>A (p.Glu165Lys) | |
4 | g.6291220G>C | CA356171875 | WFS1 | c.484G>C (p.Glu162Gln) c.474G>C c.235G>C (p.Glu79Gln) c.283G>C (p.Glu95Gln) c.358G>C (p.Glu120Gln) c.81G>C n.669G>C c.493G>C (p.Glu165Gln) | |
4 | g.6291220G>T | CA356171874 | WFS1 | c.484G>T (p.Glu162Ter) c.474G>T c.235G>T (p.Glu79Ter) c.283G>T (p.Glu95Ter) c.358G>T (p.Glu120Ter) c.81G>T n.669G>T c.493G>T (p.Glu165Ter) | |
4 | g.6291221A>C | CA356171877 | WFS1 | c.485A>C (p.Glu162Ala) c.475A>C c.236A>C (p.Glu79Ala) c.284A>C (p.Glu95Ala) c.359A>C (p.Glu120Ala) c.82A>C n.670A>C c.494A>C (p.Glu165Ala) | |
4 | g.6291221A>G | CA356171878 | WFS1 | c.485A>G (p.Glu162Gly) c.475A>G c.236A>G (p.Glu79Gly) c.284A>G (p.Glu95Gly) c.359A>G (p.Glu120Gly) c.82A>G n.670A>G c.494A>G (p.Glu165Gly) | |
4 | g.6291221A>T | CA356171879 | WFS1 | c.485A>T (p.Glu162Val) c.475A>T c.236A>T (p.Glu79Val) c.284A>T (p.Glu95Val) c.359A>T (p.Glu120Val) c.82A>T n.670A>T c.494A>T (p.Glu165Val) | |
4 | g.6291222G>A | CA438210938 | WFS1 | c.486G>A (p.Glu162=) c.476G>A c.237G>A (p.Glu79=) c.285G>A (p.Glu95=) c.360G>A (p.Glu120=) c.83G>A n.671G>A c.495G>A (p.Glu165=) | gnomAD v4 |
4 | g.6291222G>C | CA356171880 | WFS1 | c.486G>C (p.Glu162Asp) c.476G>C c.237G>C (p.Glu79Asp) c.285G>C (p.Glu95Asp) c.360G>C (p.Glu120Asp) c.83G>C n.671G>C c.495G>C (p.Glu165Asp) | |
4 | g.6291222G>T | CA356171881 | WFS1 | c.486G>T (p.Glu162Asp) c.476G>T c.237G>T (p.Glu79Asp) c.285G>T (p.Glu95Asp) c.360G>T (p.Glu120Asp) c.83G>T n.671G>T c.495G>T (p.Glu165Asp) | |
4 | g.6291223del | CA2669825844 | WFS1 | c.487del (p.Val163Ter) c.477del c.238del (p.Val80Ter) c.286del (p.Val96Ter) c.361del (p.Val121Ter) c.84del n.672del c.496del (p.Val166Ter) | gnomAD v4 |
4 | g.6291223G>A | CA356171882 | WFS1 | c.487G>A (p.Val163Met) c.477G>A c.238G>A (p.Val80Met) c.286G>A (p.Val96Met) c.361G>A (p.Val121Met) c.84G>A n.672G>A c.496G>A (p.Val166Met) | |
4 | g.6291223G>C | CA356171883 | WFS1 | c.487G>C (p.Val163Leu) c.477G>C c.238G>C (p.Val80Leu) c.286G>C (p.Val96Leu) c.361G>C (p.Val121Leu) c.84G>C n.672G>C c.496G>C (p.Val166Leu) | |
4 | g.6291223G>T | CA356171884 | WFS1 | c.487G>T (p.Val163Leu) c.477G>T c.238G>T (p.Val80Leu) c.286G>T (p.Val96Leu) c.361G>T (p.Val121Leu) c.84G>T n.672G>T c.496G>T (p.Val166Leu) | |
4 | g.6291224T>A | CA356171885 | WFS1 | c.488T>A (p.Val163Glu) c.478T>A c.239T>A (p.Val80Glu) c.287T>A (p.Val96Glu) c.362T>A (p.Val121Glu) c.85T>A n.673T>A c.497T>A (p.Val166Glu) | |
4 | g.6291224T>C | CA356171886 | WFS1 | c.488T>C (p.Val163Ala) c.478T>C c.239T>C (p.Val80Ala) c.287T>C (p.Val96Ala) c.362T>C (p.Val121Ala) c.85T>C n.673T>C c.497T>C (p.Val166Ala) | |
4 | g.6291224T>G | CA356171887 | WFS1 | c.488T>G (p.Val163Gly) c.478T>G c.239T>G (p.Val80Gly) c.287T>G (p.Val96Gly) c.362T>G (p.Val121Gly) c.85T>G n.673T>G c.497T>G (p.Val166Gly) | gnomAD v3 gnomAD v4 |
4 | g.6291225G>A | CA438210939 | WFS1 | c.489G>A (p.Val163=) c.479G>A c.240G>A (p.Val80=) c.288G>A (p.Val96=) c.363G>A (p.Val121=) c.86G>A n.674G>A c.498G>A (p.Val166=) | |
4 | g.6291225G>C | CA438210940 | WFS1 | c.489G>C (p.Val163=) c.479G>C c.240G>C (p.Val80=) c.288G>C (p.Val96=) c.363G>C (p.Val121=) c.86G>C n.674G>C c.498G>C (p.Val166=) | |
4 | g.6291225G>T | CA438210941 | WFS1 | c.489G>T (p.Val163=) c.479G>T c.240G>T (p.Val80=) c.288G>T (p.Val96=) c.363G>T (p.Val121=) c.86G>T n.674G>T c.498G>T (p.Val166=) | |
4 | g.6291226A>C | CA438210942 | WFS1 | c.490A>C (p.Arg164=) c.480A>C c.241A>C (p.Arg81=) c.289A>C (p.Arg97=) c.364A>C (p.Arg122=) c.87A>C n.675A>C c.499A>C (p.Arg167=) | |
4 | g.6291226A>G | CA356171888 | WFS1 | c.490A>G (p.Arg164Gly) c.480A>G c.241A>G (p.Arg81Gly) c.289A>G (p.Arg97Gly) c.364A>G (p.Arg122Gly) c.87A>G n.675A>G c.499A>G (p.Arg167Gly) | |
4 | g.6291226A>T | CA356171889 | WFS1 | c.490A>T (p.Arg164Trp) c.480A>T c.241A>T (p.Arg81Trp) c.289A>T (p.Arg97Trp) c.364A>T (p.Arg122Trp) c.87A>T n.675A>T c.499A>T (p.Arg167Trp) | |
4 | g.6291227G>A | CA356171892 | WFS1 | c.491G>A (p.Arg164Lys) c.481G>A c.242G>A (p.Arg81Lys) c.290G>A (p.Arg97Lys) c.365G>A (p.Arg122Lys) c.88G>A n.676G>A c.500G>A (p.Arg167Lys) | dbSNP gnomAD v2 |
4 | g.6291227G>C | CA356171891 | WFS1 | c.491G>C (p.Arg164Thr) c.481G>C c.242G>C (p.Arg81Thr) c.290G>C (p.Arg97Thr) c.365G>C (p.Arg122Thr) c.88G>C n.676G>C c.500G>C (p.Arg167Thr) | |
4 | g.6291227G= | CA1435768577 | WFS1 | c.491G= (p.Arg164=) c.481G= c.242G= (p.Arg81=) c.290G= (p.Arg97=) c.365G= (p.Arg122=) c.88G= n.676G= c.500G= (p.Arg167=) | |
4 | g.6291227G>T | CA356171890 | WFS1 | c.491G>T (p.Arg164Met) c.481G>T c.242G>T (p.Arg81Met) c.290G>T (p.Arg97Met) c.365G>T (p.Arg122Met) c.88G>T n.676G>T c.500G>T (p.Arg167Met) | |
4 | g.6291228G>A | CA438210943 | WFS1 | c.492G>A (p.Arg164=) c.482G>A c.243G>A (p.Arg81=) c.291G>A (p.Arg97=) c.366G>A (p.Arg122=) c.89G>A n.677G>A c.501G>A (p.Arg167=) | |
4 | g.6291228G>C | CA356171893 | WFS1 | c.492G>C (p.Arg164Ser) c.482G>C c.243G>C (p.Arg81Ser) c.291G>C (p.Arg97Ser) c.366G>C (p.Arg122Ser) c.89G>C n.677G>C c.501G>C (p.Arg167Ser) | |
4 | g.6291228G>T | CA356171894 | WFS1 | c.492G>T (p.Arg164Ser) c.482G>T c.243G>T (p.Arg81Ser) c.291G>T (p.Arg97Ser) c.366G>T (p.Arg122Ser) c.89G>T n.677G>T c.501G>T (p.Arg167Ser) | |
4 | g.6291229C>A | CA356171895 | WFS1 | c.493C>A (p.Gln165Lys) c.483C>A c.244C>A (p.Gln82Lys) c.292C>A (p.Gln98Lys) c.367C>A (p.Gln123Lys) c.90C>A n.678C>A c.502C>A (p.Gln168Lys) | |
4 | g.6291229C>G | CA356171897 | WFS1 | c.493C>G (p.Gln165Glu) c.483C>G c.244C>G (p.Gln82Glu) c.292C>G (p.Gln98Glu) c.367C>G (p.Gln123Glu) c.90C>G n.678C>G c.502C>G (p.Gln168Glu) | |
4 | g.6291229C>T | CA356171896 | WFS1 | c.493C>T (p.Gln165Ter) c.483C>T c.244C>T (p.Gln82Ter) c.292C>T (p.Gln98Ter) c.367C>T (p.Gln123Ter) c.90C>T n.678C>T c.502C>T (p.Gln168Ter) | gnomAD v4 |
4 | g.6291230A>C | CA356171898 | WFS1 | c.494A>C (p.Gln165Pro) c.484A>C c.245A>C (p.Gln82Pro) c.293A>C (p.Gln98Pro) c.368A>C (p.Gln123Pro) c.91A>C n.679A>C c.503A>C (p.Gln168Pro) | |
4 | g.6291230A>G | CA356171899 | WFS1 | c.494A>G (p.Gln165Arg) c.484A>G c.245A>G (p.Gln82Arg) c.293A>G (p.Gln98Arg) c.368A>G (p.Gln123Arg) c.91A>G n.679A>G c.503A>G (p.Gln168Arg) | |
4 | g.6291230A>T | CA356171900 | WFS1 | c.494A>T (p.Gln165Leu) c.484A>T c.245A>T (p.Gln82Leu) c.293A>T (p.Gln98Leu) c.368A>T (p.Gln123Leu) c.91A>T n.679A>T c.503A>T (p.Gln168Leu) | |
4 | g.6291231G>A | CA2838920 | WFS1 | c.495G>A (p.Gln165=) c.485G>A c.246G>A (p.Gln82=) c.294G>A (p.Gln98=) c.369G>A (p.Gln123=) c.92G>A n.680G>A c.504G>A (p.Gln168=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6291231G>C | CA356171901 | WFS1 | c.495G>C (p.Gln165His) c.485G>C c.246G>C (p.Gln82His) c.294G>C (p.Gln98His) c.369G>C (p.Gln123His) c.92G>C n.680G>C c.504G>C (p.Gln168His) | gnomAD v4 |
4 | g.6291231G= | CA1435768578 | WFS1 | c.495G= (p.Gln165=) c.485G= c.246G= (p.Gln82=) c.294G= (p.Gln98=) c.369G= (p.Gln123=) c.92G= n.680G= c.504G= (p.Gln168=) | |
4 | g.6291231G>T | CA356171902 | WFS1 | c.495G>T (p.Gln165His) c.485G>T c.246G>T (p.Gln82His) c.294G>T (p.Gln98His) c.369G>T (p.Gln123His) c.92G>T n.680G>T c.504G>T (p.Gln168His) | |
4 | g.6291232C>A | CA356171903 | WFS1 | c.496C>A (p.Leu166Ile) c.486C>A c.247C>A (p.Leu83Ile) c.295C>A (p.Leu99Ile) c.370C>A (p.Leu124Ile) c.93C>A n.681C>A c.505C>A (p.Leu169Ile) | |
4 | g.6291232C>G | CA356171904 | WFS1 | c.496C>G (p.Leu166Val) c.486C>G c.247C>G (p.Leu83Val) c.295C>G (p.Leu99Val) c.370C>G (p.Leu124Val) c.93C>G n.681C>G c.505C>G (p.Leu169Val) | |
4 | g.6291232C>T | CA356171905 | WFS1 | c.496C>T (p.Leu166Phe) c.486C>T c.247C>T (p.Leu83Phe) c.295C>T (p.Leu99Phe) c.370C>T (p.Leu124Phe) c.93C>T n.681C>T c.505C>T (p.Leu169Phe) | |
4 | g.6291233T>A | CA356171906 | WFS1 | c.497T>A (p.Leu166His) c.487T>A c.248T>A (p.Leu83His) c.296T>A (p.Leu99His) c.371T>A (p.Leu124His) c.94T>A n.682T>A c.506T>A (p.Leu169His) | |
4 | g.6291233T>C | CA356171907 | WFS1 | c.497T>C (p.Leu166Pro) c.487T>C c.248T>C (p.Leu83Pro) c.296T>C (p.Leu99Pro) c.371T>C (p.Leu124Pro) c.94T>C n.682T>C c.506T>C (p.Leu169Pro) | dbSNP |
4 | g.6291233T>G | CA356171908 | WFS1 | c.497T>G (p.Leu166Arg) c.487T>G c.248T>G (p.Leu83Arg) c.296T>G (p.Leu99Arg) c.371T>G (p.Leu124Arg) c.94T>G n.682T>G c.506T>G (p.Leu169Arg) | |
4 | g.6291233T= | CA1435768579 | WFS1 | c.497T= (p.Leu166=) c.487T= c.248T= (p.Leu83=) c.296T= (p.Leu99=) c.371T= (p.Leu124=) c.94T= n.682T= c.506T= (p.Leu169=) | |
4 | g.6291234C>A | CA438210945 | WFS1 | c.498C>A (p.Leu166=) c.488C>A c.249C>A (p.Leu83=) c.297C>A (p.Leu99=) c.372C>A (p.Leu124=) c.95C>A n.683C>A c.507C>A (p.Leu169=) | |
4 | g.6291234C= | CA1435768580 | WFS1 | c.498C= (p.Leu166=) c.488C= c.249C= (p.Leu83=) c.297C= (p.Leu99=) c.372C= (p.Leu124=) c.95C= n.683C= c.507C= (p.Leu169=) | |
4 | g.6291234C>G | CA2838921 | WFS1 | c.498C>G (p.Leu166=) c.488C>G c.249C>G (p.Leu83=) c.297C>G (p.Leu99=) c.372C>G (p.Leu124=) c.95C>G n.683C>G c.507C>G (p.Leu169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291234C>T | CA438210944 | WFS1 | c.498C>T (p.Leu166=) c.488C>T c.249C>T (p.Leu83=) c.297C>T (p.Leu99=) c.372C>T (p.Leu124=) c.95C>T n.683C>T c.507C>T (p.Leu169=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6291238_6291240del | CA2586973593 | WFS1 | c.502_504del (p.Ser168del) c.492_494del c.253_255del (p.Ser85del) c.301_303del (p.Ser101del) c.376_378del (p.Ser126del) c.99_101del n.687_689del c.511_513del (p.Ser171del) | |
4 | g.6291235T>A | CA356171909 | WFS1 | c.499T>A (p.Ser167Thr) c.489T>A c.250T>A (p.Ser84Thr) c.298T>A (p.Ser100Thr) c.373T>A (p.Ser125Thr) c.96T>A n.684T>A c.508T>A (p.Ser170Thr) | |
4 | g.6291235T>C | CA356171911 | WFS1 | c.499T>C (p.Ser167Pro) c.489T>C c.250T>C (p.Ser84Pro) c.298T>C (p.Ser100Pro) c.373T>C (p.Ser125Pro) c.96T>C n.684T>C c.508T>C (p.Ser170Pro) | |
4 | g.6291235T>G | CA356171910 | WFS1 | c.499T>G (p.Ser167Ala) c.489T>G c.250T>G (p.Ser84Ala) c.298T>G (p.Ser100Ala) c.373T>G (p.Ser125Ala) c.96T>G n.684T>G c.508T>G (p.Ser170Ala) | |
4 | g.6291236C>A | CA356171912 | WFS1 | c.500C>A (p.Ser167Tyr) c.490C>A c.251C>A (p.Ser84Tyr) c.299C>A (p.Ser100Tyr) c.374C>A (p.Ser125Tyr) c.97C>A n.685C>A c.509C>A (p.Ser170Tyr) | |
4 | g.6291236C>G | CA356171913 | WFS1 | c.500C>G (p.Ser167Cys) c.490C>G c.251C>G (p.Ser84Cys) c.299C>G (p.Ser100Cys) c.374C>G (p.Ser125Cys) c.97C>G n.685C>G c.509C>G (p.Ser170Cys) | |
4 | g.6291236C>T | CA356171914 | WFS1 | c.500C>T (p.Ser167Phe) c.490C>T c.251C>T (p.Ser84Phe) c.299C>T (p.Ser100Phe) c.374C>T (p.Ser125Phe) c.97C>T n.685C>T c.509C>T (p.Ser170Phe) | gnomAD v4 |
4 | g.6291237C>A | CA438210946 | WFS1 | c.501C>A (p.Ser167=) c.491C>A c.252C>A (p.Ser84=) c.300C>A (p.Ser100=) c.375C>A (p.Ser125=) c.98C>A n.686C>A c.510C>A (p.Ser170=) | |
4 | g.6291237C= | CA1435768581 | WFS1 | c.501C= (p.Ser167=) c.491C= c.252C= (p.Ser84=) c.300C= (p.Ser100=) c.375C= (p.Ser125=) c.98C= n.686C= c.510C= (p.Ser170=) | |
4 | g.6291237C>G | CA438210947 | WFS1 | c.501C>G (p.Ser167=) c.491C>G c.252C>G (p.Ser84=) c.300C>G (p.Ser100=) c.375C>G (p.Ser125=) c.98C>G n.686C>G c.510C>G (p.Ser170=) | |
4 | g.6291237C>T | CA438210948 | WFS1 | c.501C>T (p.Ser167=) c.491C>T c.252C>T (p.Ser84=) c.300C>T (p.Ser100=) c.375C>T (p.Ser125=) c.98C>T n.686C>T c.510C>T (p.Ser170=) | dbSNP gnomAD v2 |
4 | g.6291238T>A | CA356171915 | WFS1 | c.502T>A (p.Ser168Thr) c.492T>A c.253T>A (p.Ser85Thr) c.301T>A (p.Ser101Thr) c.376T>A (p.Ser126Thr) c.99T>A n.687T>A c.511T>A (p.Ser171Thr) | |
4 | g.6291238T>C | CA356171916 | WFS1 | c.502T>C (p.Ser168Pro) c.492T>C c.253T>C (p.Ser85Pro) c.301T>C (p.Ser101Pro) c.376T>C (p.Ser126Pro) c.99T>C n.687T>C c.511T>C (p.Ser171Pro) | |
4 | g.6291238T>G | CA356171917 | WFS1 | c.502T>G (p.Ser168Ala) c.492T>G c.253T>G (p.Ser85Ala) c.301T>G (p.Ser101Ala) c.376T>G (p.Ser126Ala) c.99T>G n.687T>G c.511T>G (p.Ser171Ala) | |
4 | g.6291238_6291239delinsTC | CA1435768582 | WFS1 | c.502_503delinsTC (p.Ser168=) c.492_493delinsTC c.253_254delinsTC (p.Ser85=) c.301_302delinsTC (p.Ser101=) c.376_377delinsTC (p.Ser126=) c.99_100delinsTC n.687_688delinsTC c.511_512delinsTC (p.Ser171=) | |
4 | g.6291239C>A | CA356171918 | WFS1 | c.503C>A (p.Ser168Tyr) c.493C>A c.254C>A (p.Ser85Tyr) c.302C>A (p.Ser101Tyr) c.377C>A (p.Ser126Tyr) c.100C>A n.688C>A c.512C>A (p.Ser171Tyr) | ClinVar |
4 | g.6291239C>G | CA356171919 | WFS1 | c.503C>G (p.Ser168Cys) c.493C>G c.254C>G (p.Ser85Cys) c.302C>G (p.Ser101Cys) c.377C>G (p.Ser126Cys) c.100C>G n.688C>G c.512C>G (p.Ser171Cys) | |
4 | g.6291239C>T | CA356171920 | WFS1 | c.503C>T (p.Ser168Phe) c.493C>T c.254C>T (p.Ser85Phe) c.302C>T (p.Ser101Phe) c.377C>T (p.Ser126Phe) c.100C>T n.688C>T c.512C>T (p.Ser171Phe) | |
4 | g.6291240del | CA549707975 | WFS1 | c.504del (p.Glu169ArgfsTer?) c.494del c.255del (p.Glu86ArgfsTer?) c.303del (p.Glu102ArgfsTer?) c.378del (p.Glu127ArgfsTer?) c.101del n.689del c.513del (p.Glu172ArgfsTer?) | dbSNP gnomAD v2 |
4 | g.6291240C>A | CA438210949 | WFS1 | c.504C>A (p.Ser168=) c.494C>A c.255C>A (p.Ser85=) c.303C>A (p.Ser101=) c.378C>A (p.Ser126=) c.101C>A n.689C>A c.513C>A (p.Ser171=) | |
4 | g.6291240C= | CA1435768583 | WFS1 | c.504C= (p.Ser168=) c.494C= c.255C= (p.Ser85=) c.303C= (p.Ser101=) c.378C= (p.Ser126=) c.101C= n.689C= c.513C= (p.Ser171=) | |
4 | g.6291240C>G | CA438210950 | WFS1 | c.504C>G (p.Ser168=) c.494C>G c.255C>G (p.Ser85=) c.303C>G (p.Ser101=) c.378C>G (p.Ser126=) c.101C>G n.689C>G c.513C>G (p.Ser171=) | |
4 | g.6291240C>T | CA2838922 | WFS1 | c.504C>T (p.Ser168=) c.494C>T c.255C>T (p.Ser85=) c.303C>T (p.Ser101=) c.378C>T (p.Ser126=) c.101C>T n.689C>T c.513C>T (p.Ser171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291241G>A | CA321089 | WFS1 | c.505G>A (p.Glu169Lys) c.495G>A c.256G>A (p.Glu86Lys) c.304G>A (p.Glu102Lys) c.379G>A (p.Glu127Lys) c.102G>A n.690G>A c.514G>A (p.Glu172Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291241G>C | CA356171922 | WFS1 | c.505G>C (p.Glu169Gln) c.495G>C c.256G>C (p.Glu86Gln) c.304G>C (p.Glu102Gln) c.379G>C (p.Glu127Gln) c.102G>C n.690G>C c.514G>C (p.Glu172Gln) | |
4 | g.6291241G= | CA1435768584 | WFS1 | c.505G= (p.Glu169=) c.495G= c.256G= (p.Glu86=) c.304G= (p.Glu102=) c.379G= (p.Glu127=) c.102G= n.690G= c.514G= (p.Glu172=) | |
4 | g.6291241G>T | CA356171921 | WFS1 | c.505G>T (p.Glu169Ter) c.495G>T c.256G>T (p.Glu86Ter) c.304G>T (p.Glu102Ter) c.379G>T (p.Glu127Ter) c.102G>T n.690G>T c.514G>T (p.Glu172Ter) | gnomAD v4 |
4 | g.6291242A>C | CA356171925 | WFS1 | c.506A>C (p.Glu169Ala) c.496A>C c.257A>C (p.Glu86Ala) c.305A>C (p.Glu102Ala) c.380A>C (p.Glu127Ala) c.103A>C n.691A>C c.515A>C (p.Glu172Ala) | |
4 | g.6291242A>G | CA356171923 | WFS1 | c.506A>G (p.Glu169Gly) c.496A>G c.257A>G (p.Glu86Gly) c.305A>G (p.Glu102Gly) c.380A>G (p.Glu127Gly) c.103A>G n.691A>G c.515A>G (p.Glu172Gly) | |
4 | g.6291242A>T | CA356171924 | WFS1 | c.506A>T (p.Glu169Val) c.496A>T c.257A>T (p.Glu86Val) c.305A>T (p.Glu102Val) c.380A>T (p.Glu127Val) c.103A>T n.691A>T c.515A>T (p.Glu172Val) | |
4 | g.6291243G>A | CA438210951 | WFS1 | c.507G>A (p.Glu169=) c.497G>A c.258G>A (p.Glu86=) c.306G>A (p.Glu102=) c.381G>A (p.Glu127=) c.104G>A n.692G>A c.516G>A (p.Glu172=) | gnomAD v4 |
4 | g.6291243G>C | CA356171926 | WFS1 | c.507G>C (p.Glu169Asp) c.497G>C c.258G>C (p.Glu86Asp) c.306G>C (p.Glu102Asp) c.381G>C (p.Glu127Asp) c.104G>C n.692G>C c.516G>C (p.Glu172Asp) | |
4 | g.6291243G>T | CA356171927 | WFS1 | c.507G>T (p.Glu169Asp) c.497G>T c.258G>T (p.Glu86Asp) c.306G>T (p.Glu102Asp) c.381G>T (p.Glu127Asp) c.104G>T n.692G>T c.516G>T (p.Glu172Asp) | |
4 | g.6291244A>C | CA356171928 | WFS1 | c.508A>C (p.Thr170Pro) c.498A>C c.259A>C (p.Thr87Pro) c.307A>C (p.Thr103Pro) c.382A>C (p.Thr128Pro) c.105A>C n.693A>C c.517A>C (p.Thr173Pro) | |
4 | g.6291244A>G | CA356171929 | WFS1 | c.508A>G (p.Thr170Ala) c.498A>G c.259A>G (p.Thr87Ala) c.307A>G (p.Thr103Ala) c.382A>G (p.Thr128Ala) c.105A>G n.693A>G c.517A>G (p.Thr173Ala) | |
4 | g.6291244A>T | CA356171930 | WFS1 | c.508A>T (p.Thr170Ser) c.498A>T c.259A>T (p.Thr87Ser) c.307A>T (p.Thr103Ser) c.382A>T (p.Thr128Ser) c.105A>T n.693A>T c.517A>T (p.Thr173Ser) | |
4 | g.6291245C>A | CA356171931 | WFS1 | c.509C>A (p.Thr170Asn) c.499C>A c.260C>A (p.Thr87Asn) c.308C>A (p.Thr103Asn) c.383C>A (p.Thr128Asn) c.106C>A n.694C>A c.518C>A (p.Thr173Asn) | |
4 | g.6291245C= | CA1435768585 | WFS1 | c.509C= (p.Thr170=) c.499C= c.260C= (p.Thr87=) c.308C= (p.Thr103=) c.383C= (p.Thr128=) c.106C= n.694C= c.518C= (p.Thr173=) | |
4 | g.6291245C>G | CA91794572 | WFS1 | c.509C>G (p.Thr170Ser) c.499C>G c.260C>G (p.Thr87Ser) c.308C>G (p.Thr103Ser) c.383C>G (p.Thr128Ser) c.106C>G n.694C>G c.518C>G (p.Thr173Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291245C>T | CA356171932 | WFS1 | c.509C>T (p.Thr170Ile) c.499C>T c.260C>T (p.Thr87Ile) c.308C>T (p.Thr103Ile) c.383C>T (p.Thr128Ile) c.106C>T n.694C>T c.518C>T (p.Thr173Ile) | |
4 | g.6291246C>A | CA438210952 | WFS1 | c.510C>A (p.Thr170=) c.500C>A c.261C>A (p.Thr87=) c.309C>A (p.Thr103=) c.384C>A (p.Thr128=) c.107C>A n.695C>A c.519C>A (p.Thr173=) | gnomAD v4 |
4 | g.6291246C= | CA1435768586 | WFS1 | c.510C= (p.Thr170=) c.500C= c.261C= (p.Thr87=) c.309C= (p.Thr103=) c.384C= (p.Thr128=) c.107C= n.695C= c.519C= (p.Thr173=) | |
4 | g.6291246C>G | CA321835 | WFS1 | c.510C>G (p.Thr170=) c.500C>G c.261C>G (p.Thr87=) c.309C>G (p.Thr103=) c.384C>G (p.Thr128=) c.107C>G n.695C>G c.519C>G (p.Thr173=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291246C>T | CA2838923 | WFS1 | c.510C>T (p.Thr170=) c.500C>T c.261C>T (p.Thr87=) c.309C>T (p.Thr103=) c.384C>T (p.Thr128=) c.107C>T n.695C>T c.519C>T (p.Thr173=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291247G>A | CA2838924 | WFS1 | c.511G>A (p.Asp171Asn) c.501G>A c.262G>A (p.Asp88Asn) c.310G>A (p.Asp104Asn) c.385G>A (p.Asp129Asn) c.108G>A n.696G>A c.520G>A (p.Asp174Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291247G>C | CA2838925 | WFS1 | c.511G>C (p.Asp171His) c.501G>C c.262G>C (p.Asp88His) c.310G>C (p.Asp104His) c.385G>C (p.Asp129His) c.108G>C n.696G>C c.520G>C (p.Asp174His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6291247G= | CA1435768587 | WFS1 | c.511G= (p.Asp171=) c.501G= c.262G= (p.Asp88=) c.310G= (p.Asp104=) c.385G= (p.Asp129=) c.108G= n.696G= c.520G= (p.Asp174=) | |
4 | g.6291247G>T | CA356171933 | WFS1 | c.511G>T (p.Asp171Tyr) c.501G>T c.262G>T (p.Asp88Tyr) c.310G>T (p.Asp104Tyr) c.385G>T (p.Asp129Tyr) c.108G>T n.696G>T c.520G>T (p.Asp174Tyr) | |
4 | g.6291248A>C | CA356171934 | WFS1 | c.512A>C (p.Asp171Ala) c.502A>C c.263A>C (p.Asp88Ala) c.311A>C (p.Asp104Ala) c.386A>C (p.Asp129Ala) c.109A>C n.697A>C c.521A>C (p.Asp174Ala) | |
4 | g.6291248A>G | CA356171935 | WFS1 | c.512A>G (p.Asp171Gly) c.502A>G c.263A>G (p.Asp88Gly) c.311A>G (p.Asp104Gly) c.386A>G (p.Asp129Gly) c.109A>G n.697A>G c.521A>G (p.Asp174Gly) | |
4 | g.6291248A>T | CA356171936 | WFS1 | c.512A>T (p.Asp171Val) c.502A>T c.263A>T (p.Asp88Val) c.311A>T (p.Asp104Val) c.386A>T (p.Asp129Val) c.109A>T n.697A>T c.521A>T (p.Asp174Val) | |
4 | g.6291249C>A | CA356171937 | WFS1 | c.513C>A (p.Asp171Glu) c.503C>A c.264C>A (p.Asp88Glu) c.312C>A (p.Asp104Glu) c.387C>A (p.Asp129Glu) c.110C>A n.698C>A c.522C>A (p.Asp174Glu) | |
4 | g.6291249C>G | CA356171938 | WFS1 | c.513C>G (p.Asp171Glu) c.503C>G c.264C>G (p.Asp88Glu) c.312C>G (p.Asp104Glu) c.387C>G (p.Asp129Glu) c.110C>G n.698C>G c.522C>G (p.Asp174Glu) | |
4 | g.6291249C>T | CA438210953 | WFS1 | c.513C>T (p.Asp171=) c.503C>T c.264C>T (p.Asp88=) c.312C>T (p.Asp104=) c.387C>T (p.Asp129=) c.110C>T n.698C>T c.522C>T (p.Asp174=) | gnomAD v4 |
4 | g.6291250C>A | CA356171940 | WFS1 | c.514C>A (p.Leu172Met) c.504C>A c.265C>A (p.Leu89Met) c.313C>A (p.Leu105Met) c.388C>A (p.Leu130Met) c.111C>A n.699C>A c.523C>A (p.Leu175Met) | |
4 | g.6291250C= | CA1435768588 | WFS1 | c.514C= (p.Leu172=) c.504C= c.265C= (p.Leu89=) c.313C= (p.Leu105=) c.388C= (p.Leu130=) c.111C= n.699C= c.523C= (p.Leu175=) | |
4 | g.6291250C>G | CA356171939 | WFS1 | c.514C>G (p.Leu172Val) c.504C>G c.265C>G (p.Leu89Val) c.313C>G (p.Leu105Val) c.388C>G (p.Leu130Val) c.111C>G n.699C>G c.523C>G (p.Leu175Val) | |
4 | g.6291250C>T | CA2838926 | WFS1 | c.514C>T (p.Leu172=) c.504C>T c.265C>T (p.Leu89=) c.313C>T (p.Leu105=) c.388C>T (p.Leu130=) c.111C>T n.699C>T c.523C>T (p.Leu175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291251T>A | CA356171941 | WFS1 | c.515T>A (p.Leu172Gln) c.505T>A c.266T>A (p.Leu89Gln) c.314T>A (p.Leu105Gln) c.389T>A (p.Leu130Gln) c.112T>A n.700T>A c.524T>A (p.Leu175Gln) | gnomAD v4 |
4 | g.6291251T>C | CA356171942 | WFS1 | c.515T>C (p.Leu172Pro) c.505T>C c.266T>C (p.Leu89Pro) c.314T>C (p.Leu105Pro) c.389T>C (p.Leu130Pro) c.112T>C n.700T>C c.524T>C (p.Leu175Pro) | |
4 | g.6291251T>G | CA356171943 | WFS1 | c.515T>G (p.Leu172Arg) c.505T>G c.266T>G (p.Leu89Arg) c.314T>G (p.Leu105Arg) c.389T>G (p.Leu130Arg) c.112T>G n.700T>G c.524T>G (p.Leu175Arg) | |
4 | g.6291252G>A | CA438210954 | WFS1 | c.516G>A (p.Leu172=) c.506G>A c.267G>A (p.Leu89=) c.315G>A (p.Leu105=) c.390G>A (p.Leu130=) c.113G>A n.701G>A c.525G>A (p.Leu175=) | |
4 | g.6291252G>C | CA438210955 | WFS1 | c.516G>C (p.Leu172=) c.506G>C c.267G>C (p.Leu89=) c.315G>C (p.Leu105=) c.390G>C (p.Leu130=) c.113G>C n.701G>C c.525G>C (p.Leu175=) | |
4 | g.6291252G>T | CA438210956 | WFS1 | c.516G>T (p.Leu172=) c.506G>T c.267G>T (p.Leu89=) c.315G>T (p.Leu105=) c.390G>T (p.Leu130=) c.113G>T n.701G>T c.525G>T (p.Leu175=) | |
4 | g.6291253G>A | CA356171944 | WFS1 | c.517G>A (p.Glu173Lys) c.507G>A c.268G>A (p.Glu90Lys) c.316G>A (p.Glu106Lys) c.391G>A (p.Glu131Lys) c.114G>A n.702G>A c.526G>A (p.Glu176Lys) | |
4 | g.6291253G>C | CA356171945 | WFS1 | c.517G>C (p.Glu173Gln) c.507G>C c.268G>C (p.Glu90Gln) c.316G>C (p.Glu106Gln) c.391G>C (p.Glu131Gln) c.114G>C n.702G>C c.526G>C (p.Glu176Gln) | ClinVar |
4 | g.6291253G>T | CA356171946 | WFS1 | c.517G>T (p.Glu173Ter) c.507G>T c.268G>T (p.Glu90Ter) c.316G>T (p.Glu106Ter) c.391G>T (p.Glu131Ter) c.114G>T n.702G>T c.526G>T (p.Glu176Ter) | |
4 | g.6291254A>C | CA356171948 | WFS1 | c.518A>C (p.Glu173Ala) c.508A>C c.269A>C (p.Glu90Ala) c.317A>C (p.Glu106Ala) c.392A>C (p.Glu131Ala) c.115A>C n.703A>C c.527A>C (p.Glu176Ala) | |
4 | g.6291254A>G | CA356171949 | WFS1 | c.518A>G (p.Glu173Gly) c.508A>G c.269A>G (p.Glu90Gly) c.317A>G (p.Glu106Gly) c.392A>G (p.Glu131Gly) c.115A>G n.703A>G c.527A>G (p.Glu176Gly) | gnomAD v4 |
4 | g.6291254A>T | CA356171947 | WFS1 | c.518A>T (p.Glu173Val) c.508A>T c.269A>T (p.Glu90Val) c.317A>T (p.Glu106Val) c.392A>T (p.Glu131Val) c.115A>T n.703A>T c.527A>T (p.Glu176Val) | |
4 | g.6291255G>A | CA438210957 | WFS1 | c.519G>A (p.Glu173=) c.509G>A c.270G>A (p.Glu90=) c.318G>A (p.Glu106=) c.393G>A (p.Glu131=) c.116G>A n.704G>A c.528G>A (p.Glu176=) | gnomAD v4 |
4 | g.6291255G>C | CA356171950 | WFS1 | c.519G>C (p.Glu173Asp) c.509G>C c.270G>C (p.Glu90Asp) c.318G>C (p.Glu106Asp) c.393G>C (p.Glu131Asp) c.116G>C n.704G>C c.528G>C (p.Glu176Asp) | |
4 | g.6291255G>T | CA356171951 | WFS1 | c.519G>T (p.Glu173Asp) c.509G>T c.270G>T (p.Glu90Asp) c.318G>T (p.Glu106Asp) c.393G>T (p.Glu131Asp) c.116G>T n.704G>T c.528G>T (p.Glu176Asp) | COSMIC |
4 | g.6291256A= | CA1435768589 | WFS1 | c.520A= (p.Arg174=) c.510A= c.271A= (p.Arg91=) c.319A= (p.Arg107=) c.394A= (p.Arg132=) c.117A= n.705A= c.529A= (p.Arg177=) | |
4 | g.6291256A>C | CA438210958 | WFS1 | c.520A>C (p.Arg174=) c.510A>C c.271A>C (p.Arg91=) c.319A>C (p.Arg107=) c.394A>C (p.Arg132=) c.117A>C n.705A>C c.529A>C (p.Arg177=) | |
4 | g.6291256A>G | CA356171952 | WFS1 | c.520A>G (p.Arg174Gly) c.510A>G c.271A>G (p.Arg91Gly) c.319A>G (p.Arg107Gly) c.394A>G (p.Arg132Gly) c.117A>G n.705A>G c.529A>G (p.Arg177Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291256A>T | CA356171953 | WFS1 | c.520A>T (p.Arg174Trp) c.510A>T c.271A>T (p.Arg91Trp) c.319A>T (p.Arg107Trp) c.394A>T (p.Arg132Trp) c.117A>T n.705A>T c.529A>T (p.Arg177Trp) | |
4 | g.6291257G>A | CA356171954 | WFS1 | c.521G>A (p.Arg174Lys) c.511G>A c.272G>A (p.Arg91Lys) c.320G>A (p.Arg107Lys) c.395G>A (p.Arg132Lys) c.118G>A n.706G>A c.530G>A (p.Arg177Lys) | |
4 | g.6291257G>C | CA356171955 | WFS1 | c.521G>C (p.Arg174Thr) c.511G>C c.272G>C (p.Arg91Thr) c.320G>C (p.Arg107Thr) c.395G>C (p.Arg132Thr) c.118G>C n.706G>C c.530G>C (p.Arg177Thr) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6291257G= | CA1435768590 | WFS1 | c.521G= (p.Arg174=) c.511G= c.272G= (p.Arg91=) c.320G= (p.Arg107=) c.395G= (p.Arg132=) c.118G= n.706G= c.530G= (p.Arg177=) | |
4 | g.6291257G>T | CA356171956 | WFS1 | c.521G>T (p.Arg174Met) c.511G>T c.272G>T (p.Arg91Met) c.320G>T (p.Arg107Met) c.395G>T (p.Arg132Met) c.118G>T n.706G>T c.530G>T (p.Arg177Met) | |
4 | g.6291258G>A | CA438210959 | WFS1 | c.522G>A (p.Arg174=) c.512G>A c.273G>A (p.Arg91=) c.321G>A (p.Arg107=) c.396G>A (p.Arg132=) c.119G>A n.707G>A c.531G>A (p.Arg177=) | gnomAD v4 |
4 | g.6291258G>C | CA356171957 | WFS1 | c.522G>C (p.Arg174Ser) c.512G>C c.273G>C (p.Arg91Ser) c.321G>C (p.Arg107Ser) c.396G>C (p.Arg132Ser) c.119G>C n.707G>C c.531G>C (p.Arg177Ser) | |
4 | g.6291258G>T | CA356171958 | WFS1 | c.522G>T (p.Arg174Ser) c.512G>T c.273G>T (p.Arg91Ser) c.321G>T (p.Arg107Ser) c.396G>T (p.Arg132Ser) c.119G>T n.707G>T c.531G>T (p.Arg177Ser) | |
4 | g.6291259G>A | CA356171959 | WFS1 | c.523G>A (p.Ala175Thr) c.513G>A c.274G>A (p.Ala92Thr) c.322G>A (p.Ala108Thr) c.397G>A (p.Ala133Thr) c.120G>A n.708G>A c.532G>A (p.Ala178Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
4 | g.6291259G>C | CA356171960 | WFS1 | c.523G>C (p.Ala175Pro) c.513G>C c.274G>C (p.Ala92Pro) c.322G>C (p.Ala108Pro) c.397G>C (p.Ala133Pro) c.120G>C n.708G>C c.532G>C (p.Ala178Pro) | |
4 | g.6291259G= | CA1435768591 | WFS1 | c.523G= (p.Ala175=) c.513G= c.274G= (p.Ala92=) c.322G= (p.Ala108=) c.397G= (p.Ala133=) c.120G= n.708G= c.532G= (p.Ala178=) | |
4 | g.6291259G>T | CA356171961 | WFS1 | c.523G>T (p.Ala175Ser) c.513G>T c.274G>T (p.Ala92Ser) c.322G>T (p.Ala108Ser) c.397G>T (p.Ala133Ser) c.120G>T n.708G>T c.532G>T (p.Ala178Ser) | gnomAD v4 |
4 | g.6291260C>A | CA356171962 | WFS1 | c.524C>A (p.Ala175Asp) c.514C>A c.275C>A (p.Ala92Asp) c.323C>A (p.Ala108Asp) c.398C>A (p.Ala133Asp) c.121C>A n.709C>A c.533C>A (p.Ala178Asp) | |
4 | g.6291260C>G | CA356171963 | WFS1 | c.524C>G (p.Ala175Gly) c.514C>G c.275C>G (p.Ala92Gly) c.323C>G (p.Ala108Gly) c.398C>G (p.Ala133Gly) c.121C>G n.709C>G c.533C>G (p.Ala178Gly) | |
4 | g.6291260C>T | CA356171964 | WFS1 | c.524C>T (p.Ala175Val) c.514C>T c.275C>T (p.Ala92Val) c.323C>T (p.Ala108Val) c.398C>T (p.Ala133Val) c.121C>T n.709C>T c.533C>T (p.Ala178Val) | gnomAD v4 |
4 | g.6291261C>A | CA438210960 | WFS1 | c.525C>A (p.Ala175=) c.515C>A c.276C>A (p.Ala92=) c.324C>A (p.Ala108=) c.399C>A (p.Ala133=) c.122C>A n.710C>A c.534C>A (p.Ala178=) | |
4 | g.6291261C= | CA1435768592 | WFS1 | c.525C= (p.Ala175=) c.515C= c.276C= (p.Ala92=) c.324C= (p.Ala108=) c.399C= (p.Ala133=) c.122C= n.710C= c.534C= (p.Ala178=) | |
4 | g.6291261C>G | CA438210961 | WFS1 | c.525C>G (p.Ala175=) c.515C>G c.276C>G (p.Ala92=) c.324C>G (p.Ala108=) c.399C>G (p.Ala133=) c.122C>G n.710C>G c.534C>G (p.Ala178=) | |
4 | g.6291261C>T | CA2838927 | WFS1 | c.525C>T (p.Ala175=) c.515C>T c.276C>T (p.Ala92=) c.324C>T (p.Ala108=) c.399C>T (p.Ala133=) c.122C>T n.710C>T c.534C>T (p.Ala178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6291262G>A | CA2838928 | WFS1 | c.526G>A (p.Val176Met) c.516G>A c.277G>A (p.Val93Met) c.325G>A (p.Val109Met) c.400G>A (p.Val134Met) c.123G>A n.711G>A c.535G>A (p.Val179Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6291262G>C | CA356171965 | WFS1 | c.526G>C (p.Val176Leu) c.516G>C c.277G>C (p.Val93Leu) c.325G>C (p.Val109Leu) c.400G>C (p.Val134Leu) c.123G>C n.711G>C c.535G>C (p.Val179Leu) | |
4 | g.6291262G= | CA1435768593 | WFS1 | c.526G= (p.Val176=) c.516G= c.277G= (p.Val93=) c.325G= (p.Val109=) c.400G= (p.Val134=) c.123G= n.711G= c.535G= (p.Val179=) | |
4 | g.6291262G>T | CA356171966 | WFS1 | c.526G>T (p.Val176Leu) c.516G>T c.277G>T (p.Val93Leu) c.325G>T (p.Val109Leu) c.400G>T (p.Val134Leu) c.123G>T n.711G>T c.535G>T (p.Val179Leu) | gnomAD v4 |
4 | g.6291263del | CA2669825845 | WFS1 | c.527del (p.Val176GlyfsTer?) c.517del c.278del (p.Val93GlyfsTer?) c.326del (p.Val109GlyfsTer?) c.401del (p.Val134GlyfsTer?) c.124del n.712del c.536del (p.Val179GlyfsTer?) | gnomAD v4 |
4 | g.6291263T>A | CA91794573 | WFS1 | c.527T>A (p.Val176Glu) c.517T>A c.278T>A (p.Val93Glu) c.326T>A (p.Val109Glu) c.401T>A (p.Val134Glu) c.124T>A n.712T>A c.536T>A (p.Val179Glu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6291263T>C | CA2838929 | WFS1 | c.527T>C (p.Val176Ala) c.517T>C c.278T>C (p.Val93Ala) c.326T>C (p.Val109Ala) c.401T>C (p.Val134Ala) c.124T>C n.712T>C c.536T>C (p.Val179Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291263T>G | CA356171967 | WFS1 | c.527T>G (p.Val176Gly) c.517T>G c.278T>G (p.Val93Gly) c.326T>G (p.Val109Gly) c.401T>G (p.Val134Gly) c.124T>G n.712T>G c.536T>G (p.Val179Gly) | |
4 | g.6291263T= | CA1435768594 | WFS1 | c.527T= (p.Val176=) c.517T= c.278T= (p.Val93=) c.326T= (p.Val109=) c.401T= (p.Val134=) c.124T= n.712T= c.536T= (p.Val179=) | |
4 | g.6291264G>A | CA438210962 | WFS1 | c.528G>A (p.Val176=) c.518G>A c.279G>A (p.Val93=) c.327G>A (p.Val109=) c.402G>A (p.Val134=) c.125G>A n.713G>A c.537G>A (p.Val179=) | |
4 | g.6291264G>C | CA438210963 | WFS1 | c.528G>C (p.Val176=) c.518G>C c.279G>C (p.Val93=) c.327G>C (p.Val109=) c.402G>C (p.Val134=) c.125G>C n.713G>C c.537G>C (p.Val179=) | |
4 | g.6291264G>T | CA438210964 | WFS1 | c.528G>T (p.Val176=) c.518G>T c.279G>T (p.Val93=) c.327G>T (p.Val109=) c.402G>T (p.Val134=) c.125G>T n.713G>T c.537G>T (p.Val179=) | gnomAD v4 |
4 | g.6291264_6291267dup | CA2580616070 | WFS1 | c.528_531dup (p.Lys178AlafsTer?) c.518_521dup c.279_282dup (p.Lys95AlafsTer?) c.327_330dup (p.Lys111AlafsTer?) c.402_405dup (p.Lys136AlafsTer?) c.125_128dup n.713_716dup c.537_540dup (p.Lys181AlafsTer?) | ClinVar dbSNP |
4 | g.6291265C>A | CA2838930 | WFS1 | c.529C>A (p.Arg177Ser) c.519C>A c.280C>A (p.Arg94Ser) c.328C>A (p.Arg110Ser) c.403C>A (p.Arg135Ser) c.126C>A n.714C>A c.538C>A (p.Arg180Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6291265C= | CA1435768595 | WFS1 | c.529C= (p.Arg177=) c.519C= c.280C= (p.Arg94=) c.328C= (p.Arg110=) c.403C= (p.Arg135=) c.126C= n.714C= c.538C= (p.Arg180=) | |
4 | g.6291265C>G | CA356171968 | WFS1 | c.529C>G (p.Arg177Gly) c.519C>G c.280C>G (p.Arg94Gly) c.328C>G (p.Arg110Gly) c.403C>G (p.Arg135Gly) c.126C>G n.714C>G c.538C>G (p.Arg180Gly) | |
4 | g.6291265C>T | CA91794574 | WFS1 | c.529C>T (p.Arg177Cys) c.519C>T c.280C>T (p.Arg94Cys) c.328C>T (p.Arg110Cys) c.403C>T (p.Arg135Cys) c.126C>T n.714C>T c.538C>T (p.Arg180Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
4 | g.6291266G>A | CA2838931 | WFS1 | c.530G>A (p.Arg177His) c.520G>A c.281G>A (p.Arg94His) c.329G>A (p.Arg110His) c.404G>A (p.Arg135His) c.127G>A n.715G>A c.539G>A (p.Arg180His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6291266G>C | CA356171969 | WFS1 | c.530G>C (p.Arg177Pro) c.520G>C c.281G>C (p.Arg94Pro) c.329G>C (p.Arg110Pro) c.404G>C (p.Arg135Pro) c.127G>C n.715G>C c.539G>C (p.Arg180Pro) | |
4 | g.6291266G= | CA1435768596 | WFS1 | c.530G= (p.Arg177=) c.520G= c.281G= (p.Arg94=) c.329G= (p.Arg110=) c.404G= (p.Arg135=) c.127G= n.715G= c.539G= (p.Arg180=) | |
4 | g.6291266G>T | CA356171970 | WFS1 | c.530G>T (p.Arg177Leu) c.520G>T c.281G>T (p.Arg94Leu) c.329G>T (p.Arg110Leu) c.404G>T (p.Arg135Leu) c.127G>T n.715G>T c.539G>T (p.Arg180Leu) | gnomAD v4 |
4 | g.6291267C>A | CA438210965 | WFS1 | c.531C>A (p.Arg177=) c.521C>A c.282C>A (p.Arg94=) c.330C>A (p.Arg110=) c.405C>A (p.Arg135=) c.128C>A n.716C>A c.540C>A (p.Arg180=) | |
4 | g.6291267C>G | CA438210966 | WFS1 | c.531C>G (p.Arg177=) c.521C>G c.282C>G (p.Arg94=) c.330C>G (p.Arg110=) c.405C>G (p.Arg135=) c.128C>G n.716C>G c.540C>G (p.Arg180=) | |
4 | g.6291267C>T | CA438210967 | WFS1 | c.531C>T (p.Arg177=) c.521C>T c.282C>T (p.Arg94=) c.330C>T (p.Arg110=) c.405C>T (p.Arg135=) c.128C>T n.716C>T c.540C>T (p.Arg180=) | |
4 | g.6291268A>C | CA356171973 | WFS1 | c.532A>C (p.Lys178Gln) c.522A>C c.283A>C (p.Lys95Gln) c.331A>C (p.Lys111Gln) c.406A>C (p.Lys136Gln) c.129A>C n.717A>C c.541A>C (p.Lys181Gln) | |
4 | g.6291268A>G | CA356171972 | WFS1 | c.532A>G (p.Lys178Glu) c.522A>G c.283A>G (p.Lys95Glu) c.331A>G (p.Lys111Glu) c.406A>G (p.Lys136Glu) c.129A>G n.717A>G c.541A>G (p.Lys181Glu) | |
4 | g.6291268A>T | CA356171971 | WFS1 | c.532A>T (p.Lys178Ter) c.522A>T c.283A>T (p.Lys95Ter) c.331A>T (p.Lys111Ter) c.406A>T (p.Lys136Ter) c.129A>T n.717A>T c.541A>T (p.Lys181Ter) | |
4 | g.6291268_6291273del | CA2586973594 | WFS1 | c.532_537del (p.Lys178_Ala179del) c.522_527del c.283_288del (p.Lys95_Ala96del) c.331_336del (p.Lys111_Ala112del) c.406_411del (p.Lys136_Ala137del) c.129_134del n.717_722del c.541_546del (p.Lys181_Ala182del) | |
4 | g.6291269A>C | CA356171974 | WFS1 | c.533A>C (p.Lys178Thr) c.523A>C c.284A>C (p.Lys95Thr) c.332A>C (p.Lys111Thr) c.407A>C (p.Lys136Thr) c.130A>C n.718A>C c.542A>C (p.Lys181Thr) | |
4 | g.6291269A>G | CA356171975 | WFS1 | c.533A>G (p.Lys178Arg) c.523A>G c.284A>G (p.Lys95Arg) c.332A>G (p.Lys111Arg) c.407A>G (p.Lys136Arg) c.130A>G n.718A>G c.542A>G (p.Lys181Arg) | |
4 | g.6291269A>T | CA356171976 | WFS1 | c.533A>T (p.Lys178Met) c.523A>T c.284A>T (p.Lys95Met) c.332A>T (p.Lys111Met) c.407A>T (p.Lys136Met) c.130A>T n.718A>T c.542A>T (p.Lys181Met) | |
4 | g.6291269_6291274del | CA2586973595 | WFS1 | c.533_538del (p.Lys178_Ala180delinsThr) c.523_528del c.284_289del (p.Lys95_Ala97delinsThr) c.332_337del (p.Lys111_Ala113delinsThr) c.407_412del (p.Lys136_Ala138delinsThr) c.130_135del n.718_723del c.542_547del (p.Lys181_Ala183delinsThr) |