| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13701427T>A | CA359193743 | DNAH5 | n.681A>T c.13348A>T (p.Ile4450Phe) c.13303A>T (p.Ile4435Phe) c.13456A>T (p.Ile4486Phe) c.13036A>T (p.Ile4346Phe) c.12361A>T (p.Ile4121Phe) c.8545A>T (p.Ile2849Phe) c.8098A>T (p.Ile2700Phe) c.7435A>T (p.Ile2479Phe) c.11950A>T (p.Ile3984Phe) | dbSNP |
| 5 | g.13701427T>C | CA175769 | DNAH5 | n.681A>G c.13348A>G (p.Ile4450Val) c.13303A>G (p.Ile4435Val) c.13456A>G (p.Ile4486Val) c.13036A>G (p.Ile4346Val) c.12361A>G (p.Ile4121Val) c.8545A>G (p.Ile2849Val) c.8098A>G (p.Ile2700Val) c.7435A>G (p.Ile2479Val) c.11950A>G (p.Ile3984Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |