| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13777309G>C | CA359211144 | DNAH5 | c.8998C>G (p.Arg3000Gly) c.8953C>G (p.Arg2985Gly) n.9074C>G c.9106C>G (p.Arg3036Gly) c.8011C>G (p.Arg2671Gly) c.4195C>G (p.Arg1399Gly) c.3748C>G (p.Arg1250Gly) c.3085C>G (p.Arg1029Gly) c.7600C>G (p.Arg2534Gly) n.8992C>G | dbSNP gnomAD v4 |
| 5 | g.13777309G>A | CA334769 | DNAH5 | c.8998C>T (p.Arg3000Ter) c.8953C>T (p.Arg2985Ter) n.9074C>T c.9106C>T (p.Arg3036Ter) c.8011C>T (p.Arg2671Ter) c.4195C>T (p.Arg1399Ter) c.3748C>T (p.Arg1250Ter) c.3085C>T (p.Arg1029Ter) c.7600C>T (p.Arg2534Ter) n.8992C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |