Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.57897913C>ACA254576CNGB1c.2978G>T (p.Gly993Val)
c.2960G>T (p.Gly987Val)
c.24G>T
n.635G>T
c.1829G>T (p.Gly610Val)
ClinVar dbSNP gnomAD v4
16g.57897913C>TCA221643CNGB1c.2978G>A (p.Gly993Glu)
c.2960G>A (p.Gly987Glu)
c.24G>A
n.635G>A
c.1829G>A (p.Gly610Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched