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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
5
g.151259878A>G
CA180087
GM2A
c.205A>G (p.Met69Val)
c.80A>G
c.250A>G (p.Met84Val)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
5
g.151259878A>T
CA361805981
GM2A
c.205A>T (p.Met69Leu)
c.80A>T
c.250A>T (p.Met84Leu)
dbSNP
gnomAD v2
gnomAD v4
Number of alleles fetched
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