| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13752252del | CA3202099 | DNAH5 | c.10910del (p.Leu3637ArgfsTer20) c.10865del (p.Leu3622ArgfsTer20) c.11018del (p.Leu3673ArgfsTer20) c.9923del (p.Leu3308ArgfsTer20) c.6107del (p.Leu2036ArgfsTer20) c.5660del (p.Leu1887ArgfsTer20) c.4997del (p.Leu1666ArgfsTer20) c.9512del (p.Leu3171ArgfsTer20) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13752252A= | CA1528422961 | DNAH5 | c.10910T= (p.Leu3637=) c.10865T= (p.Leu3622=) c.11018T= (p.Leu3673=) c.9923T= (p.Leu3308=) c.6107T= (p.Leu2036=) c.5660T= (p.Leu1887=) c.4997T= (p.Leu1666=) c.9512T= (p.Leu3171=) | dbSNP dbSNP |