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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
20
g.23048087G>T
CA408405561
THBD
c.1418C>A (p.Ala473Asp)
dbSNP
gnomAD v2
gnomAD v4
20
g.23048087G>A
CA9787562
THBD
c.1418C>T (p.Ala473Val)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
20
g.23048087G=
CA2355680894
THBD
c.1418C= (p.Ala473=)
dbSNP
Number of alleles fetched
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