| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13901476G>A | CA253866 | DNAH5 | c.1828C>T (p.Gln610Ter) c.1783C>T (p.Gln595Ter) n.2035C>T c.1936C>T (p.Gln646Ter) c.841C>T (p.Gln281Ter) c.430C>T (p.Gln144Ter) n.1953C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13901476G>C | CA113944454 | DNAH5 | c.1828C>G (p.Gln610Glu) c.1783C>G (p.Gln595Glu) n.2035C>G c.1936C>G (p.Gln646Glu) c.841C>G (p.Gln281Glu) c.430C>G (p.Gln144Glu) n.1953C>G | ClinVar dbSNP gnomAD v4 |