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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.115732900C>A
CA341768922
CASQ2
c.330+1G>T (n.330+1G>T)
c.606+1G>T (n.606+1G>T)
n.27+1G>T
ClinVar
dbSNP
gnomAD v3
gnomAD v4
1
g.115732900C>G
CA301900
CASQ2
c.330+1G>C (n.330+1G>C)
c.606+1G>C (n.606+1G>C)
n.27+1G>C
ClinVar
dbSNP
Number of alleles fetched
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