| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.168431367T>G | CA3548999 | WWC1 | c.2203T>G (p.Ser735Ala) c.2087T>G n.4T>G c.181T>G (p.Ser61Ala) n.286T>G c.1532T>G c.4T>G (p.Ser2Ala) c.2386T>G (p.Ser796Ala) c.1921T>G (p.Ser641Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.168431367T= | CA1599448289 | WWC1 | c.2203T= (p.Ser735=) c.2087T= n.4T= c.181T= (p.Ser61=) n.286T= c.1532T= c.4T= (p.Ser2=) c.2386T= (p.Ser796=) c.1921T= (p.Ser641=) | dbSNP dbSNP |