| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301634G>A | CA2839516 | WFS1 | c.1875G>A (p.Trp625Ter) c.1816G>A c.1839G>A (p.Trp613Ter) c.1590G>A (p.Trp530Ter) c.1498G>A (n.1498G>A) n.2024G>A c.1848G>A (p.Trp616Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301634G>T | CA356176937 | WFS1 | c.1875G>T (p.Trp625Cys) c.1816G>T c.1839G>T (p.Trp613Cys) c.1590G>T (p.Trp530Cys) c.1498G>T (n.1498G>T) n.2024G>T c.1848G>T (p.Trp616Cys) | dbSNP gnomAD v4 COSMIC |
| 4 | g.6301634G= | CA1435771541 | WFS1 | c.1875G= (p.Trp625=) c.1816G= c.1839G= (p.Trp613=) c.1590G= (p.Trp530=) c.1498G= (n.1498G=) n.2024G= c.1848G= (p.Trp616=) | dbSNP |