Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.68444671dupCA23575009RPE65c.361dup (p.Ser121PhefsTer10)
c.85dup (p.Ser29PhefsTer10)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.68444671delCA523301836RPE65c.361del (p.Ser121LeufsTer6)
c.85del (p.Ser29LeufsTer6)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched