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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
3
g.8745542T>C
CA351663147
CAV3
c.131T>C (p.Val44Ala)
n.155+11552T>C
ClinVar
dbSNP
gnomAD v2
gnomAD v4
3
g.8745542T>A
CA215190
CAV3
c.131T>A (p.Val44Glu)
n.155+11552T>A
ClinVar
dbSNP
Number of alleles fetched
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