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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.853345G>C
CA402916128
ELANE
c.308G>C (p.Arg103Pro)
ClinVar
dbSNP
19
g.853345G>A
CA9025998
ELANE
c.308G>A (p.Arg103His)
dbSNP
ExAC
gnomAD v2
gnomAD v4
19
g.853345G>T
CA16620913
ELANE
c.308G>T (p.Arg103Leu)
ClinVar
dbSNP
Showing alleles 1 - 3 from query results
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