| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178785999C>T | CA2005874 | TTN | c.2219G>A (p.Arg740His) c.2081G>A (p.Arg694His) c.2267G>A (p.Arg756His) c.2126G>A (p.Arg709His) c.2264G>A (p.Arg755His) c.2222G>A (p.Arg741His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178785999C>A | CA122607 | TTN | c.2219G>T (p.Arg740Leu) c.2081G>T (p.Arg694Leu) c.2267G>T (p.Arg756Leu) c.2126G>T (p.Arg709Leu) c.2264G>T (p.Arg755Leu) c.2222G>T (p.Arg741Leu) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178785999C= | CA1310621679 | TTN | c.2219G= (p.Arg740=) c.2081G= (p.Arg694=) c.2267G= (p.Arg756=) c.2126G= (p.Arg709=) c.2264G= (p.Arg755=) c.2222G= (p.Arg741=) | dbSNP |