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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
3
g.38613766A>G
CA019728
SCN5A
c.680T>C (p.Leu227Pro)
c.703+209T>C (n.703+209T>C)
c.551T>C (p.Leu184Pro)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
3
g.38613766A=
CA1358589364
SCN5A
c.680T= (p.Leu227=)
c.703+209T= (n.703+209T=)
c.551T= (p.Leu184=)
dbSNP
Number of alleles fetched
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