| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178802273C>T | CA256511 | TTN | c.160G>A (p.Val54Met) n.370G>A c.205G>A (p.Val69Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178802273C= | CA1310628768 | TTN | c.160G= (p.Val54=) n.370G= c.205G= (p.Val69=) | dbSNP |
| 2 | g.178802273C>A | CA349531149 | TTN | c.160G>T (p.Val54Leu) n.370G>T c.205G>T (p.Val69Leu) | dbSNP gnomAD v4 |