| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301627G>A | CA136340 | WFS1 | c.1868G>A (p.Arg623His) c.1809G>A c.1832G>A (p.Arg611His) c.1583G>A (p.Arg528His) c.1491G>A (n.1491G>A) n.2017G>A c.1841G>A (p.Arg614His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301627G>C | CA356176922 | WFS1 | c.1868G>C (p.Arg623Pro) c.1809G>C c.1832G>C (p.Arg611Pro) c.1583G>C (p.Arg528Pro) c.1491G>C (n.1491G>C) n.2017G>C c.1841G>C (p.Arg614Pro) | dbSNP gnomAD v3 gnomAD v4 |