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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.63406361T>C
CA248677
ALG6
c.391T>C (p.Tyr131His)
c.*120T>C (n.*120T>C)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
1
g.63406361T=
CA1140568658
ALG6
c.391T= (p.Tyr131=)
c.*120T= (n.*120T=)
dbSNP
Number of alleles fetched
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