| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.55724429T>C | CA119206 | RDH5 | c.841T>C (p.Tyr281His) c.592-109T>C c.550T>C (p.Tyr184His) c.572T>C c.*2723T>C (n.*2723T>C) n.791T>C n.900T>C | ClinVar dbSNP |
| 12 | g.55724429T>G | CA237595248 | RDH5 | c.841T>G (p.Tyr281Asp) c.592-109T>G c.550T>G (p.Tyr184Asp) c.572T>G c.*2723T>G (n.*2723T>G) n.791T>G n.900T>G | dbSNP |