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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.855613C>T
CA281050
ELANE
c.416C>T (p.Pro139Leu)
ClinVar
dbSNP
gnomAD v4
19
g.855613C>G
CA402917946
ELANE
c.416C>G (p.Pro139Arg)
ClinVar
dbSNP
19
g.855613C=
CA2317361367
ELANE
c.416C= (p.Pro139=)
dbSNP
Number of alleles fetched
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