| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.99347033C>A | CA258125 | ADH1B,ADH1C | c.232G>T (p.Gly78Ter) c.18+5625G>T (n.18+5625G>T) n.301G>T c.112G>T (p.Gly38Ter) c.130G>T (p.Gly44Ter) n.602G>T n.303G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99347033C>T | CA357494721 | ADH1B,ADH1C | c.232G>A (p.Gly78Arg) c.18+5625G>A (n.18+5625G>A) n.301G>A c.112G>A (p.Gly38Arg) c.130G>A (p.Gly44Arg) n.602G>A n.303G>A | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99347033C= | CA3020481 | ADH1B,ADH1C | c.232G= (p.Gly78=) c.18+5625G= (n.18+5625G=) n.301G= c.112G= (p.Gly38=) c.130G= (p.Gly44=) n.602G= n.303G= | dbSNP |