| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13894820dup | CA261197 | DNAH5 | c.2261dup (p.Met754IlefsTer5) c.2216dup (p.Met739IlefsTer5) n.2468dup c.2369dup (p.Met790IlefsTer5) c.1274dup (p.Met425IlefsTer5) c.863dup (p.Met288IlefsTer5) n.2386dup | ClinVar dbSNP gnomAD v4 |
| 5 | g.13894820A= | CA3123573815 | DNAH5 | c.2261T= (p.Met754=) c.2216T= (p.Met739=) n.2468T= c.2369T= (p.Met790=) c.1274T= (p.Met425=) c.863T= (p.Met288=) n.2386T= | dbSNP |