| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13902111T>C | CA175807 | DNAH5 | c.1672A>G (p.Thr558Ala) c.1627A>G (p.Thr543Ala) n.1879A>G c.1780A>G (p.Thr594Ala) c.685A>G (p.Thr229Ala) c.274A>G (p.Thr92Ala) n.1797A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13902111T= | CA1528490741 | DNAH5 | c.1672A= (p.Thr558=) c.1627A= (p.Thr543=) n.1879A= c.1780A= (p.Thr594=) c.685A= (p.Thr229=) c.274A= (p.Thr92=) n.1797A= | dbSNP |