| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.165683019C>T | CA1221183 | ALDH9A1 | c.419G>A (p.Cys140Tyr) n.529G>A n.374G>A c.137G>A (p.Cys46Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.165683019C>G | CA118536 | ALDH9A1 | c.419G>C (p.Cys140Ser) n.529G>C n.374G>C c.137G>C (p.Cys46Ser) | ClinVar dbSNP |
| 1 | g.165683019C>A | CA343424229 | ALDH9A1 | c.419G>T (p.Cys140Phe) n.529G>T n.374G>T c.137G>T (p.Cys46Phe) | dbSNP |