| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.12353028T>C | CA401952757 | AFG3L2 | c.*891A>G (n.*891A>G) c.1157A>G (p.Asn386Ser) c.1220A>G (p.Asn407Ser) c.*672A>G (n.*672A>G) c.1295A>G (p.Asn432Ser) n.1113A>G | ClinVar dbSNP |
| 18 | g.12353028T>G | CA340428 | AFG3L2 | c.*891A>C (n.*891A>C) c.1157A>C (p.Asn386Thr) c.1220A>C (p.Asn407Thr) c.*672A>C (n.*672A>C) c.1295A>C (p.Asn432Thr) n.1113A>C | ClinVar dbSNP |