Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21842641C>T | CA16612083 | DNAH11 | c.10789C>T (p.Gln3597Ter) c.10810C>T (p.Gln3604Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.21842641C>G | CA366956835 | DNAH11 | c.10789C>G (p.Gln3597Glu) c.10810C>G (p.Gln3604Glu) | dbSNP gnomAD v4 |
7 | g.21842641C= | CA1693683937 | DNAH11 | c.10789C= (p.Gln3597=) c.10810C= (p.Gln3604=) | dbSNP |