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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
8
g.1771100C>T
CA459142835
CLN8
c.46C>T (p.Leu16=)
ClinVar
dbSNP
8
g.1771100C>A
CA264170
CLN8
c.46C>A (p.Leu16Met)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
8
g.1771100C>G
CA369952773
CLN8
c.46C>G (p.Leu16Val)
dbSNP
gnomAD v2
gnomAD v4
Number of alleles fetched
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