Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.667922T>CCA2795056PDE6Bc.2419T>C (p.Trp807Arg)
c.1582T>C (p.Trp528Arg)
c.261T>C
c.432+1308T>C (n.432+1308T>C)
c.2638T>C (p.Trp880Arg)
c.2571+1308T>C (n.2571+1308T>C)
c.1624T>C (p.Trp542Arg)
c.1348T>C (p.Trp450Arg)
c.1264T>C (p.Trp422Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.667922T>ACA256723PDE6Bc.2419T>A (p.Trp807Arg)
c.1582T>A (p.Trp528Arg)
c.261T>A
c.432+1308T>A (n.432+1308T>A)
c.2638T>A (p.Trp880Arg)
c.2571+1308T>A (n.2571+1308T>A)
c.1624T>A (p.Trp542Arg)
c.1348T>A (p.Trp450Arg)
c.1264T>A (p.Trp422Arg)
ClinVar dbSNP

Number of alleles fetched