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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
14
g.74484579A>G
CA340793
NPC2
c.199T>C (p.Ser67Pro)
c.158+1750T>C (n.158+1750T>C)
c.264T>C
ClinVar
dbSNP
14
g.74484579A=
CA2147066285
NPC2
c.199T= (p.Ser67=)
c.158+1750T= (n.158+1750T=)
c.264T=
dbSNP
Number of alleles fetched
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