| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301405G>A | CA324604 | WFS1 | c.1646G>A (p.Cys549Tyr) c.1587G>A c.1610G>A (p.Cys537Tyr) c.1361G>A (p.Cys454Tyr) c.1269G>A (p.Val423=) n.1795G>A c.1619G>A (p.Cys540Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301405G>T | CA356176253 | WFS1 | c.1646G>T (p.Cys549Phe) c.1587G>T c.1610G>T (p.Cys537Phe) c.1361G>T (p.Cys454Phe) c.1269G>T (p.Val423=) n.1795G>T c.1619G>T (p.Cys540Phe) | dbSNP gnomAD v4 |
| 4 | g.6301405G= | CA1435773474 | WFS1 | c.1646G= (p.Cys549=) c.1587G= c.1610G= (p.Cys537=) c.1361G= (p.Cys454=) c.1269G= (p.Val423=) n.1795G= c.1619G= (p.Cys540=) | dbSNP |