| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13844931A>G | CA3203769 | DNAH5 | c.5177T>C (p.Leu1726Pro) c.5132T>C (p.Leu1711Pro) n.5384T>C c.5285T>C (p.Leu1762Pro) c.4190T>C (p.Leu1397Pro) c.374T>C (p.Leu125Pro) c.22-3027T>C (n.22-3027T>C) c.3779T>C (p.Leu1260Pro) n.5302T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13844931A= | CA1528465049 | DNAH5 | c.5177T= (p.Leu1726=) c.5132T= (p.Leu1711=) n.5384T= c.5285T= (p.Leu1762=) c.4190T= (p.Leu1397=) c.374T= (p.Leu125=) c.22-3027T= (n.22-3027T=) c.3779T= (p.Leu1260=) n.5302T= | dbSNP |