Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21748602C>G | CA4181638 | DNAH11 | c.8533C>G (p.Arg2845Gly) c.8554C>G (p.Arg2852Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748602C>T | CA340592 | DNAH11 | c.8533C>T (p.Arg2845Ter) c.8554C>T (p.Arg2852Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748602C>A | CA16612080 | DNAH11 | c.8533C>A (p.Arg2845=) c.8554C>A (p.Arg2852=) | ClinVar dbSNP gnomAD v4 |