| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.55154145C>A | CA407440540 | TNNI3 | c.434G>T (p.Arg145Leu) c.467G>T (p.Arg156Leu) n.433G>T n.442G>T c.359G>T (p.Arg120Leu) n.262G>T | ClinVar dbSNP |
| 19 | g.55154145C>T | CA021673 | TNNI3 | c.434G>A (p.Arg145Gln) c.467G>A (p.Arg156Gln) n.433G>A n.442G>A c.359G>A (p.Arg120Gln) n.262G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |