| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68027885G>C | CA475513301 | ALDH3B1 | c.1353G>C (p.Leu451=) c.1002G>C (p.Leu334=) n.4487G>C c.606-168G>C (n.606-168G>C) c.1242G>C (p.Leu414=) c.*761G>C (n.*761G>C) c.765G>C (p.Leu255=) n.272+1399C>G n.437+1399C>G | dbSNP |
| 11 | g.68027885G>A | CA6146225 | ALDH3B1 | c.1353G>A (p.Leu451=) c.1002G>A (p.Leu334=) n.4487G>A c.606-168G>A (n.606-168G>A) c.1242G>A (p.Leu414=) c.*761G>A (n.*761G>A) c.765G>A (p.Leu255=) n.272+1399C>T n.437+1399C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |