Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.53645895G>ACA210648RPGRIP1Lc.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
16g.53645895G=CA2223254498RPGRIP1Lc.2413C= (p.Arg805=)
n.2837C=
c.2425C= (p.Arg809=)
c.658C= (p.Arg220=)
n.2457C=
n.2468C=
dbSNP

Number of alleles fetched