| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301162G>A | CA136332 | WFS1 | c.1403G>A (p.Arg468His) c.1344G>A c.1367G>A (p.Arg456His) c.1118G>A (p.Arg373His) c.1026G>A (p.Ala342=) n.1552G>A c.1376G>A (p.Arg459His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301162G>T | CA356174769 | WFS1 | c.1403G>T (p.Arg468Leu) c.1344G>T c.1367G>T (p.Arg456Leu) c.1118G>T (p.Arg373Leu) c.1026G>T (p.Ala342=) n.1552G>T c.1376G>T (p.Arg459Leu) | ClinVar dbSNP |
| 4 | g.6301162G= | CA1435772796 | WFS1 | c.1403G= (p.Arg468=) c.1344G= c.1367G= (p.Arg456=) c.1118G= (p.Arg373=) c.1026G= (p.Ala342=) n.1552G= c.1376G= (p.Arg459=) | dbSNP |