Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21773907A>T | CA16043740 | DNAH11 | c.9244A>T (p.Lys3082Ter) c.9265A>T (p.Lys3089Ter) | ClinVar dbSNP |
7 | g.21773907A>C | CA366936643 | DNAH11 | c.9244A>C (p.Lys3082Gln) c.9265A>C (p.Lys3089Gln) | dbSNP gnomAD v4 |