Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.95643044C>A | CA211805285 | ALDH18A1 | c.251G>T (p.Arg84Leu) n.443G>T c.-30-5608G>T (n.-30-5608G>T) c.-78-9395G>T (n.-78-9395G>T) | dbSNP gnomAD v4 |
10 | g.95643044C>T | CA126195 | ALDH18A1 | c.251G>A (p.Arg84Gln) n.443G>A c.-30-5608G>A (n.-30-5608G>A) c.-78-9395G>A (n.-78-9395G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |