| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.55009242T>C | CA121088 | ALAS2 | c.1702A>G (p.Ser568Gly) c.1591A>G (p.Ser531Gly) c.1663A>G (p.Ser555Gly) n.830A>G c.1774A>G (p.Ser592Gly) c.841A>G (p.Ser281Gly) | ClinVar dbSNP |
| X | g.55009242T= | CA2430388716 | ALAS2 | c.1702A= (p.Ser568=) c.1591A= (p.Ser531=) c.1663A= (p.Ser555=) n.830A= c.1774A= (p.Ser592=) c.841A= (p.Ser281=) | dbSNP |