| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13735167G>A | CA16611798 | DNAH5 | c.11725C>T (p.Arg3909Ter) c.11680C>T (p.Arg3894Ter) c.11833C>T (p.Arg3945Ter) c.10738C>T (p.Arg3580Ter) c.6922C>T (p.Arg2308Ter) c.6475C>T (p.Arg2159Ter) c.5812C>T (p.Arg1938Ter) c.10327C>T (p.Arg3443Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.13735167G= | CA1528414815 | DNAH5 | c.11725C= (p.Arg3909=) c.11680C= (p.Arg3894=) c.11833C= (p.Arg3945=) c.10738C= (p.Arg3580=) c.6922C= (p.Arg2308=) c.6475C= (p.Arg2159=) c.5812C= (p.Arg1938=) c.10327C= (p.Arg3443=) | dbSNP |