| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301739G>A | CA253188 | WFS1 | c.1980G>A (p.Trp660Ter) c.1921G>A c.1944G>A (p.Trp648Ter) c.1695G>A (p.Trp565Ter) c.1603G>A (n.1603G>A) n.2129G>A c.1953G>A (p.Trp651Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301739G>C | CA2839554 | WFS1 | c.1980G>C (p.Trp660Cys) c.1921G>C c.1944G>C (p.Trp648Cys) c.1695G>C (p.Trp565Cys) c.1603G>C (n.1603G>C) n.2129G>C c.1953G>C (p.Trp651Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |