| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13762777C>G | CA3202307 | DNAH5 | c.10226G>C (p.Trp3409Ser) c.10181G>C (p.Trp3394Ser) n.734G>C c.10334G>C (p.Trp3445Ser) c.9239G>C (p.Trp3080Ser) c.5423G>C (p.Trp1808Ser) c.4976G>C (p.Trp1659Ser) c.4313G>C (p.Trp1438Ser) c.8828G>C (p.Trp2943Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13762777C= | CA1528427630 | DNAH5 | c.10226G= (p.Trp3409=) c.10181G= (p.Trp3394=) n.734G= c.10334G= (p.Trp3445=) c.9239G= (p.Trp3080=) c.5423G= (p.Trp1808=) c.4976G= (p.Trp1659=) c.4313G= (p.Trp1438=) c.8828G= (p.Trp2943=) | dbSNP |