| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.90755015C>T | CA3340972 | ADGRV1 | c.11410C>T (p.Arg3804Ter) c.541C>T (p.Arg181Ter) c.265+78806C>T (n.265+78806C>T) n.4554C>T n.1829C>T c.4107C>T n.11423C>T c.11407C>T (p.Arg3803Ter) c.11329C>T (p.Arg3777Ter) c.8713C>T (p.Arg2905Ter) c.11431C>T (p.Arg3811Ter) c.11428C>T (p.Arg3810Ter) c.11350C>T (p.Arg3784Ter) c.11335C>T (p.Arg3779Ter) c.4549C>T (p.Arg1517Ter) c.4528C>T (p.Arg1510Ter) n.11426C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90755015C= | CA1562886171 | ADGRV1 | c.11410C= (p.Arg3804=) c.541C= (p.Arg181=) c.265+78806C= (n.265+78806C=) n.4554C= n.1829C= c.4107C= n.11423C= c.11407C= (p.Arg3803=) c.11329C= (p.Arg3777=) c.8713C= (p.Arg2905=) c.11431C= (p.Arg3811=) c.11428C= (p.Arg3810=) c.11350C= (p.Arg3784=) c.11335C= (p.Arg3779=) c.4549C= (p.Arg1517=) c.4528C= (p.Arg1510=) n.11426C= | dbSNP |