| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6291961C>T | CA253192 | WFS1 | c.676C>T (p.Gln226Ter) c.653C>T c.427C>T (p.Gln143Ter) c.475C>T (p.Gln159Ter) c.273C>T n.861C>T c.685C>T (p.Gln229Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291961C= | CA1435768970 | WFS1 | c.676C= (p.Gln226=) c.653C= c.427C= (p.Gln143=) c.475C= (p.Gln159=) c.273C= n.861C= c.685C= (p.Gln229=) | dbSNP |