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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
6
g.12292539G>T
CA3638658
EDN1
c.233+30G>T (n.233+30G>T)
c.230+30G>T (n.230+30G>T)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
6
g.12292539G>C
CA134217382
EDN1
c.233+30G>C (n.233+30G>C)
c.230+30G>C (n.230+30G>C)
dbSNP
Number of alleles fetched
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