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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
5
g.173232888G>A
CA248607
NKX2-5
c.656C>T (p.Ala219Val)
c.*609C>T (n.*609C>T)
c.*455C>T (n.*455C>T)
ClinVar
dbSNP
gnomAD v3
gnomAD v4
5
g.173232888G=
CA1601615860
NKX2-5
c.656C= (p.Ala219=)
c.*609C= (n.*609C=)
c.*455C= (n.*455C=)
dbSNP
Number of alleles fetched
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