Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.99307860G>A | CA127875 | ADH1B | c.1108C>T (p.Arg370Cys) c.988C>T (p.Arg330Cys) n.3203C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99307860G>C | CA357495911 | ADH1B | c.1108C>G (p.Arg370Gly) c.988C>G (p.Arg330Gly) n.3203C>G | dbSNP |
4 | g.99307860G= | CA1479942189 | ADH1B | c.1108C= (p.Arg370=) c.988C= (p.Arg330=) n.3203C= | dbSNP |