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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
21
g.43417679G>A
CA199551
SIK1
c.1840C>T (p.Gln614Ter)
c.1693C>T (p.Gln565Ter)
ClinVar
dbSNP
21
g.43417679G>C
CA410607186
SIK1
c.1840C>G (p.Gln614Glu)
c.1693C>G (p.Gln565Glu)
dbSNP
gnomAD v4
Number of alleles fetched
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