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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.855574C>A
CA303944686
ELANE
c.377C>A (p.Ser126Ter)
dbSNP
gnomAD v3
gnomAD v4
19
g.855574C>T
CA281055
ELANE
c.377C>T (p.Ser126Leu)
ClinVar
dbSNP
gnomAD v4
19
g.855574C>G
CA402917752
ELANE
c.377C>G (p.Ser126Trp)
ClinVar
dbSNP
Number of alleles fetched
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