| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.15637789C>T | CA273065 | DTNBP1 | c.177G>A (p.Trp59Ter) c.126G>A (p.Trp42Ter) c.*175G>A (n.*175G>A) c.*87G>A (n.*87G>A) c.72G>A (p.Trp24Ter) c.-67G>A (n.-67G>A) n.505G>A c.138G>A (p.Trp46Ter) c.87G>A (p.Trp29Ter) n.475G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.15637789C= | CA1612359692 | DTNBP1 | c.177G= (p.Trp59=) c.126G= (p.Trp42=) c.*175G= (n.*175G=) c.*87G= (n.*87G=) c.72G= (p.Trp24=) c.-67G= (n.-67G=) n.505G= c.138G= (p.Trp46=) c.87G= (p.Trp29=) n.475G= | dbSNP |