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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
16
g.57964482C>T
CA8083959
CNGB1
c.217+5G>A (n.217+5G>A)
n.275+5G>A
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
16
g.57964482C>G
CA270081
CNGB1
c.217+5G>C (n.217+5G>C)
n.275+5G>C
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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