| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178799566G>A | CA256527 | TTN | c.835C>T (p.Arg279Trp) n.1045C>T c.880C>T (p.Arg294Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178799566G= | CA1310627559 | TTN | c.835C= (p.Arg279=) n.1045C= c.880C= (p.Arg294=) | dbSNP |
| 2 | g.178799566G>C | CA349523193 | TTN | c.835C>G (p.Arg279Gly) n.1045C>G c.880C>G (p.Arg294Gly) | dbSNP gnomAD v4 |