| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.151615542G>A | CA170714 | CCDC170 | c.1810G>A (p.Val604Ile) c.1828G>A (p.Val610Ile) c.1627G>A (p.Val543Ile) n.129+1179C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.151615542G= | CA1630834598 | CCDC170 | c.1810G= (p.Val604=) c.1828G= (p.Val610=) c.1627G= (p.Val543=) n.129+1179C= | dbSNP |