Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.55154086C>A | CA16608300 | TNNI3 | c.493G>T (p.Glu165Ter) c.526G>T (p.Glu176Ter) n.492G>T c.418G>T (p.Glu140Ter) n.321G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.55154086C>G | CA407440338 | TNNI3 | c.493G>C (p.Glu165Gln) c.526G>C (p.Glu176Gln) n.492G>C c.418G>C (p.Glu140Gln) n.321G>C | ClinVar dbSNP |