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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
10
g.102066708C>T
CA259889
HPS6
c.1234C>T (p.Gln412Ter)
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
10
g.102066708C=
CA1932503776
HPS6
c.1234C= (p.Gln412=)
dbSNP
Number of alleles fetched
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