| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.55009268C>G | CA321307 | ALAS2 | c.1676G>C (p.Arg559Pro) c.1565G>C (p.Arg522Pro) c.1637G>C (p.Arg546Pro) n.804G>C c.1748G>C (p.Arg583Pro) c.815G>C (p.Arg272Pro) | ClinVar dbSNP |
| X | g.55009268C>T | CA324623 | ALAS2 | c.1676G>A (p.Arg559His) c.1565G>A (p.Arg522His) c.1637G>A (p.Arg546His) n.804G>A c.1748G>A (p.Arg583His) c.815G>A (p.Arg272His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.55009268C= | CA2430388731 | ALAS2 | c.1676G= (p.Arg559=) c.1565G= (p.Arg522=) c.1637G= (p.Arg546=) n.804G= c.1748G= (p.Arg583=) c.815G= (p.Arg272=) | dbSNP |