Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.122506817C>T | CA340683 | HTRA1 | c.904C>T (p.Arg302Ter) c.586C>T (p.Arg196Ter) c.127C>T (p.Arg43Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506817C>A | CA471666942 | HTRA1 | c.904C>A (p.Arg302=) c.586C>A (p.Arg196=) c.127C>A (p.Arg43=) | dbSNP gnomAD v4 |
10 | g.122506817C= | CA1941477240 | HTRA1 | c.904C= (p.Arg302=) c.586C= (p.Arg196=) c.127C= (p.Arg43=) | dbSNP |