Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.80166946G>A | CA5576175 | ANXA11 | c.688C>T (p.Arg230Cys) c.589C>T (p.Arg197Cys) n.246C>T c.988C>T (p.Arg330Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.80166946G>C | CA5576176 | ANXA11 | c.688C>G (p.Arg230Gly) c.589C>G (p.Arg197Gly) n.246C>G c.988C>G (p.Arg330Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |