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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
17
g.63944804C>A
CA8709137
SCN4A
c.3781G>T (p.Glu1261Ter)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
17
g.63944804C>T
CA400617508
SCN4A
c.3781G>A (p.Glu1261Lys)
dbSNP
gnomAD v4
17
g.63944804C=
CA2270162719
SCN4A
c.3781G= (p.Glu1261=)
dbSNP
Number of alleles fetched
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