| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6302122A>T | CA179675 | WFS1 | c.2363A>T (p.Glu788Val) c.2304A>T c.2327A>T (p.Glu776Val) c.2078A>T (p.Glu693Val) c.1986A>T (n.1986A>T) n.2512A>T c.2336A>T (p.Glu779Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302122A= | CA1435772358 | WFS1 | c.2363A= (p.Glu788=) c.2304A= c.2327A= (p.Glu776=) c.2078A= (p.Glu693=) c.1986A= (n.1986A=) n.2512A= c.2336A= (p.Glu779=) | dbSNP |