| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.21710596C>T | CA4180969 | DNAH11 | c.6727C>T (p.Arg2243Ter) c.6748C>T (p.Arg2250Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21710596C>A | CA453965458 | DNAH11 | c.6727C>A (p.Arg2243=) c.6748C>A (p.Arg2250=) | dbSNP |
| 7 | g.21710596C>G | CA366940148 | DNAH11 | c.6727C>G (p.Arg2243Gly) c.6748C>G (p.Arg2250Gly) | ClinVar dbSNP gnomAD v4 |
| 7 | g.21710596C= | CA1693636438 | DNAH11 | c.6727C= (p.Arg2243=) c.6748C= (p.Arg2250=) | dbSNP |