| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178774305C>T | CA236104 | TTN | c.6959G>A (p.Arg2320His) c.6821G>A (p.Arg2274His) c.7007G>A (p.Arg2336His) c.6866G>A (p.Arg2289His) c.7004G>A (p.Arg2335His) c.6962G>A (p.Arg2321His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178774305C= | CA1310616753 | TTN | c.6959G= (p.Arg2320=) c.6821G= (p.Arg2274=) c.7007G= (p.Arg2336=) c.6866G= (p.Arg2289=) c.7004G= (p.Arg2335=) c.6962G= (p.Arg2321=) | dbSNP |