Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.55154035C>A | CA407440203 | TNNI3 | c.544G>T (p.Glu182Ter) c.577G>T (p.Glu193Ter) n.543G>T c.469G>T (p.Glu157Ter) n.372G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.55154035C>T | CA021848 | TNNI3 | c.544G>A (p.Glu182Lys) c.577G>A (p.Glu193Lys) n.543G>A c.469G>A (p.Glu157Lys) n.372G>A | ClinVar dbSNP gnomAD v4 |