| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.52357632G>A | CA2433729 | DNAH1 | c.3877G>A (p.Asp1293Asn) n.4138G>A n.7026G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52357632G>C | CA353122190 | DNAH1 | c.3877G>C (p.Asp1293His) n.4138G>C n.7026G>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.52357632G= | CA1364819173 | DNAH1 | c.3877G= (p.Asp1293=) n.4138G= n.7026G= | dbSNP |