| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178777248C>A | CA2005277 | TTN | c.4715G>T (p.Arg1572Leu) c.4577G>T (p.Arg1526Leu) n.323C>A c.4763G>T (p.Arg1588Leu) c.4622G>T (p.Arg1541Leu) c.4760G>T (p.Arg1587Leu) c.4718G>T (p.Arg1573Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178777248C>T | CA283441 | TTN | c.4715G>A (p.Arg1572Gln) c.4577G>A (p.Arg1526Gln) n.323C>T c.4763G>A (p.Arg1588Gln) c.4622G>A (p.Arg1541Gln) c.4760G>A (p.Arg1587Gln) c.4718G>A (p.Arg1573Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |