| 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 |
| 2 | g.178777248C= | CA1310617951 | TTN | c.4715G= (p.Arg1572=) c.4577G= (p.Arg1526=) n.323C= c.4763G= (p.Arg1588=) c.4622G= (p.Arg1541=) c.4760G= (p.Arg1587=) c.4718G= (p.Arg1573=) | dbSNP |
| 2 | g.178777248C>G | CA349462373 | TTN | c.4715G>C (p.Arg1572Pro) c.4577G>C (p.Arg1526Pro) n.323C>G c.4763G>C (p.Arg1588Pro) c.4622G>C (p.Arg1541Pro) c.4760G>C (p.Arg1587Pro) c.4718G>C (p.Arg1573Pro) | dbSNP gnomAD v4 |