| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13701289G>T | CA443250516 | DNAH5 | n.819C>A c.13486C>A (p.Arg4496=) c.13441C>A (p.Arg4481=) c.13594C>A (p.Arg4532=) c.13174C>A (p.Arg4392=) c.12499C>A (p.Arg4167=) c.8683C>A (p.Arg2895=) c.8236C>A (p.Arg2746=) c.7573C>A (p.Arg2525=) c.12088C>A (p.Arg4030=) | ClinVar dbSNP COSMIC |
| 5 | g.13701289G>A | CA3201351 | DNAH5 | n.819C>T c.13486C>T (p.Arg4496Ter) c.13441C>T (p.Arg4481Ter) c.13594C>T (p.Arg4532Ter) c.13174C>T (p.Arg4392Ter) c.12499C>T (p.Arg4167Ter) c.8683C>T (p.Arg2895Ter) c.8236C>T (p.Arg2746Ter) c.7573C>T (p.Arg2525Ter) c.12088C>T (p.Arg4030Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |