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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.32889110C>A
CA199559
HPCA
c.212C>A (p.Thr71Asn)
n.54+2595C>A
n.126+2991C>A
n.271C>A
ClinVar
dbSNP
gnomAD v4
1
g.32889110C>T
CA745872
HPCA
c.212C>T (p.Thr71Ile)
n.54+2595C>T
n.126+2991C>T
n.271C>T
dbSNP
ExAC
gnomAD v2
gnomAD v4
Number of alleles fetched
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