| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.55154157C>A | CA407440581 | TNNI3 | c.422G>T (p.Arg141Leu) c.455G>T (p.Arg152Leu) n.421G>T n.430G>T c.347G>T (p.Arg116Leu) n.250G>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.55154157C>T | CA021635 | TNNI3 | c.422G>A (p.Arg141Gln) c.455G>A (p.Arg152Gln) n.421G>A n.430G>A c.347G>A (p.Arg116Gln) n.250G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.55154157C= | CA2343273784 | TNNI3 | c.422G= (p.Arg141=) c.455G= (p.Arg152=) n.421G= n.430G= c.347G= (p.Arg116=) n.250G= | dbSNP |