| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13708130C>T | CA16611863 | DNAH5 | n.664G>A c.13331G>A (p.Trp4444Ter) c.13286G>A (p.Trp4429Ter) c.13439G>A (p.Trp4480Ter) c.13019G>A (p.Trp4340Ter) c.12344G>A (p.Trp4115Ter) c.8528G>A (p.Trp2843Ter) c.8081G>A (p.Trp2694Ter) c.7418G>A (p.Trp2473Ter) c.11933G>A (p.Trp3978Ter) | ClinVar dbSNP |
| 5 | g.13708130C>A | CA359196292 | DNAH5 | n.664G>T c.13331G>T (p.Trp4444Leu) c.13286G>T (p.Trp4429Leu) c.13439G>T (p.Trp4480Leu) c.13019G>T (p.Trp4340Leu) c.12344G>T (p.Trp4115Leu) c.8528G>T (p.Trp2843Leu) c.8081G>T (p.Trp2694Leu) c.7418G>T (p.Trp2473Leu) c.11933G>T (p.Trp3978Leu) | ClinVar dbSNP |
| 5 | g.13708130C= | CA1528403732 | DNAH5 | n.664G= c.13331G= (p.Trp4444=) c.13286G= (p.Trp4429=) c.13439G= (p.Trp4480=) c.13019G= (p.Trp4340=) c.12344G= (p.Trp4115=) c.8528G= (p.Trp2843=) c.8081G= (p.Trp2694=) c.7418G= (p.Trp2473=) c.11933G= (p.Trp3978=) | dbSNP |