| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.55009187T>A | CA323962 | ALAS2 | c.1757A>T (p.Tyr586Phe) c.1646A>T (p.Tyr549Phe) c.1718A>T (p.Tyr573Phe) n.885A>T c.1829A>T (p.Tyr610Phe) c.896A>T (p.Tyr299Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.55009187T>G | CA413290055 | ALAS2 | c.1757A>C (p.Tyr586Ser) c.1646A>C (p.Tyr549Ser) c.1718A>C (p.Tyr573Ser) n.885A>C c.1829A>C (p.Tyr610Ser) c.896A>C (p.Tyr299Ser) | dbSNP gnomAD v3 gnomAD v4 |