| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.55021215C>A | CA121092 | ALAS2 | c.259G>T (p.Asp87Tyr) c.148G>T (p.Asp50Tyr) c.305-711G>T (n.305-711G>T) c.475G>T (p.Asp159Tyr) c.364G>T (p.Asp122Tyr) c.436G>T (p.Asp146Tyr) c.330G>T n.356-711G>T n.219G>T n.415G>T c.547G>T (p.Asp183Tyr) c.-223-711G>T (n.-223-711G>T) | ClinVar dbSNP |
| X | g.55021215C>T | CA121093 | ALAS2 | c.259G>A (p.Asp87Asn) c.148G>A (p.Asp50Asn) c.305-711G>A (n.305-711G>A) c.475G>A (p.Asp159Asn) c.364G>A (p.Asp122Asn) c.436G>A (p.Asp146Asn) c.330G>A n.356-711G>A n.219G>A n.415G>A c.547G>A (p.Asp183Asn) c.-223-711G>A (n.-223-711G>A) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |