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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
17
g.63968310A>C
CA400637779
SCN4A
c.749T>G (p.Leu250Arg)
ClinVar
dbSNP
17
g.63968310A>G
CA16607433
SCN4A
c.749T>C (p.Leu250Pro)
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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