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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
5
g.170788634T>C
CA3556464
GABRP
c.19T>C (p.Leu7=)
c.-100T>C (n.-100T>C)
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
5
g.170788634T>G
CA362112685
GABRP
c.19T>G (p.Leu7Val)
c.-100T>G (n.-100T>G)
dbSNP
Number of alleles fetched
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