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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.240868991dup
CA658821243
AGXT
c.126dup (p.Leu43AlafsTer?)
n.146dup
n.405+1247dup
ClinVar
dbSNP
gnomAD v3
gnomAD v4
2
g.240868991del
CA275817
AGXT
c.126del (p.Leu43CysfsTer3)
n.146del
n.405+1247del
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
COSMIC
Number of alleles fetched
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