| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13788898C>T | CA16611868 | DNAH5 | c.8465G>A (p.Trp2822Ter) c.8420G>A (p.Trp2807Ter) n.8672G>A c.8573G>A (p.Trp2858Ter) c.7478G>A (p.Trp2493Ter) c.3662G>A (p.Trp1221Ter) c.3215G>A (p.Trp1072Ter) c.2552G>A (p.Trp851Ter) c.7067G>A (p.Trp2356Ter) n.8590G>A | ClinVar dbSNP |
| 5 | g.13788898C= | CA1528439498 | DNAH5 | c.8465G= (p.Trp2822=) c.8420G= (p.Trp2807=) n.8672G= c.8573G= (p.Trp2858=) c.7478G= (p.Trp2493=) c.3662G= (p.Trp1221=) c.3215G= (p.Trp1072=) c.2552G= (p.Trp851=) c.7067G= (p.Trp2356=) n.8590G= | dbSNP |