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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.47836335G>C
CA270027
CRX
c.193G>C (p.Asp65His)
c.100+1792G>C (n.100+1792G>C)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
19
g.47836335G=
CA2339607382
CRX
c.193G= (p.Asp65=)
c.100+1792G= (n.100+1792G=)
dbSNP
Number of alleles fetched
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