| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13891020G>A | CA16611879 | DNAH5 | c.2533C>T (p.Gln845Ter) c.2488C>T (p.Gln830Ter) n.2740C>T c.2641C>T (p.Gln881Ter) c.1546C>T (p.Gln516Ter) c.1135C>T (p.Gln379Ter) n.2658C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13891020G= | CA1528486403 | DNAH5 | c.2533C= (p.Gln845=) c.2488C= (p.Gln830=) n.2740C= c.2641C= (p.Gln881=) c.1546C= (p.Gln516=) c.1135C= (p.Gln379=) n.2658C= | dbSNP |