Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.68438228G>ACA902299RPE65c.1087C>T (p.Pro363Ser)
c.811C>T (p.Pro271Ser)
ClinVar dbSNP ExAC gnomAD v4 COSMIC
1g.68438228G>TCA256730RPE65c.1087C>A (p.Pro363Thr)
c.811C>A (p.Pro271Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched