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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
18
g.7016494del
CA170649
LAMA1
c.2986del (p.Thr996HisfsTer28)
n.4001del
c.1414del (p.Thr472HisfsTer28)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
18
g.7016494T=
CA3229040341
LAMA1
c.2986A= (p.Thr996=)
n.4001A=
c.1414A= (p.Thr472=)
dbSNP
Number of alleles fetched
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