| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13792128G>A | CA3202844 | DNAH5 | c.8314C>T (p.Arg2772Ter) c.8269C>T (p.Arg2757Ter) n.8521C>T c.8422C>T (p.Arg2808Ter) c.7327C>T (p.Arg2443Ter) c.3511C>T (p.Arg1171Ter) c.3064C>T (p.Arg1022Ter) c.2401C>T (p.Arg801Ter) c.6916C>T (p.Arg2306Ter) n.8439C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13792128G= | CA1528440981 | DNAH5 | c.8314C= (p.Arg2772=) c.8269C= (p.Arg2757=) n.8521C= c.8422C= (p.Arg2808=) c.7327C= (p.Arg2443=) c.3511C= (p.Arg1171=) c.3064C= (p.Arg1022=) c.2401C= (p.Arg801=) c.6916C= (p.Arg2306=) n.8439C= | dbSNP |