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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
8
g.1771142G>T
CA4599194
CLN8
c.88G>T (p.Ala30Ser)
ClinVar
dbSNP
ExAC
gnomAD
8
g.1771142G>A
CA4599195
CLN8
c.88G>A (p.Ala30Thr)
ClinVar
dbSNP
ExAC
gnomAD
8
g.1771142G>C
CA252420
CLN8
c.88G>C (p.Ala30Pro)
ClinVar
dbSNP
Number of alleles fetched
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