| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.18877498G>A | CA116567 | ALDH4A1 | c.1055C>T (p.Ser352Leu) c.2107C>T c.875C>T (p.Ser292Leu) c.867C>T (p.Leu289=) n.924C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.18877498G>C | CA647092 | ALDH4A1 | c.1055C>G (p.Ser352Trp) c.2107C>G c.875C>G (p.Ser292Trp) c.867C>G (p.Leu289=) n.924C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |