| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13753290del | CA339772 | DNAH5 | c.10815del (p.Pro3606HisfsTer23) c.10770del (p.Pro3591HisfsTer23) c.10923del (p.Pro3642HisfsTer23) c.9828del (p.Pro3277HisfsTer23) c.6012del (p.Pro2005HisfsTer23) c.5565del (p.Pro1856HisfsTer23) c.4902del (p.Pro1635HisfsTer23) c.9417del (p.Pro3140HisfsTer23) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13753290A= | CA1528423455 | DNAH5 | c.10815T= (p.Asp3605=) c.10770T= (p.Asp3590=) c.10923T= (p.Asp3641=) c.9828T= (p.Asp3276=) c.6012T= (p.Asp2004=) c.5565T= (p.Asp1855=) c.4902T= (p.Asp1634=) c.9417T= (p.Asp3139=) | dbSNP dbSNP |