| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13758881G>A | CA3202257 | DNAH5 | c.10384C>T (p.Gln3462Ter) c.10339C>T (p.Gln3447Ter) c.10492C>T (p.Gln3498Ter) c.9397C>T (p.Gln3133Ter) c.5581C>T (p.Gln1861Ter) c.5134C>T (p.Gln1712Ter) c.4471C>T (p.Gln1491Ter) c.8986C>T (p.Gln2996Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13758881G= | CA1528425952 | DNAH5 | c.10384C= (p.Gln3462=) c.10339C= (p.Gln3447=) c.10492C= (p.Gln3498=) c.9397C= (p.Gln3133=) c.5581C= (p.Gln1861=) c.5134C= (p.Gln1712=) c.4471C= (p.Gln1491=) c.8986C= (p.Gln2996=) | dbSNP |