| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13793710G>A | CA3202915 | DNAH5 | c.8029C>T (p.Arg2677Ter) c.7984C>T (p.Arg2662Ter) n.8236C>T c.8137C>T (p.Arg2713Ter) c.7042C>T (p.Arg2348Ter) c.3226C>T (p.Arg1076Ter) c.2779C>T (p.Arg927Ter) c.2116C>T (p.Arg706Ter) c.6631C>T (p.Arg2211Ter) n.8154C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13793710G= | CA1528441725 | DNAH5 | c.8029C= (p.Arg2677=) c.7984C= (p.Arg2662=) n.8236C= c.8137C= (p.Arg2713=) c.7042C= (p.Arg2348=) c.3226C= (p.Arg1076=) c.2779C= (p.Arg927=) c.2116C= (p.Arg706=) c.6631C= (p.Arg2211=) n.8154C= | dbSNP |