Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.55154077C>T | CA407440316 | TNNI3 | c.502G>A (p.Asp168Asn) c.535G>A (p.Asp179Asn) n.501G>A c.427G>A (p.Asp143Asn) n.330G>A | ClinVar dbSNP gnomAD v4 |
19 | g.55154077C>G | CA407440315 | TNNI3 | c.502G>C (p.Asp168His) c.535G>C (p.Asp179His) n.501G>C c.427G>C (p.Asp143His) n.330G>C | ClinVar dbSNP |