Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.53645895G>A | CA210648 | RPGRIP1L | c.2413C>T (p.Arg805Ter) n.2837C>T c.2425C>T (p.Arg809Ter) c.658C>T (p.Arg220Ter) n.2457C>T n.2468C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.53645895G= | CA2223254498 | RPGRIP1L | c.2413C= (p.Arg805=) n.2837C= c.2425C= (p.Arg809=) c.658C= (p.Arg220=) n.2457C= n.2468C= | dbSNP |