Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.24503369C>A | CA136127798 | ALDH5A1 | c.545C>A (p.Pro182Gln) c.308C>A (p.Pro103Gln) c.463C>A c.466C>A n.1305C>A c.461C>A (p.Pro154Gln) | dbSNP |
6 | g.24503369C>T | CA151747 | ALDH5A1 | c.545C>T (p.Pro182Leu) c.308C>T (p.Pro103Leu) c.463C>T c.466C>T n.1305C>T c.461C>T (p.Pro154Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |