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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
17
g.63941940G>C
CA400616190
SCN4A
c.4342C>G (p.Arg1448Gly)
ClinVar
dbSNP
17
g.63941940G>A
CA117835
SCN4A
c.4342C>T (p.Arg1448Cys)
ClinVar
dbSNP
gnomAD v4
17
g.63941940G>T
CA350903
SCN4A
c.4342C>A (p.Arg1448Ser)
ClinVar
dbSNP
Number of alleles fetched
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