| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.73453771C>G | CA347291844 | ALMS1 | c.6863C>G (p.Ser2288Ter) c.685+21480C>G n.2213C>G c.4315C>G c.1361C>G (p.Ser454Ter) c.7244C>G (p.Ser2415Ter) c.465C>G c.2075C>G (p.Ser692Ter) c.7118C>G (p.Ser2373Ter) n.1047C>G c.7247C>G (p.Ser2416Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.73453771C>A | CA16611015 | ALMS1 | c.6863C>A (p.Ser2288Ter) c.685+21480C>A n.2213C>A c.4315C>A c.1361C>A (p.Ser454Ter) c.7244C>A (p.Ser2415Ter) c.465C>A c.2075C>A (p.Ser692Ter) c.7118C>A (p.Ser2373Ter) n.1047C>A c.7247C>A (p.Ser2416Ter) | ClinVar dbSNP gnomAD v4 |