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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
6
g.79493636G>A
CA204615
LCA5
c.835C>T (p.Gln279Ter)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
6
g.79493636G>C
CA364645243
LCA5
c.835C>G (p.Gln279Glu)
dbSNP
6
g.79493636G=
CA1640630136
LCA5
c.835C= (p.Gln279=)
dbSNP
Number of alleles fetched
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