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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
14
g.74493248del
CA342110
NPC2
c.27del (p.Leu10SerfsTer25)
c.147+783del
ClinVar
dbSNP
14
g.74493248C=
CA2147069941
NPC2
c.27G= (p.Leu9=)
c.147+783G=
dbSNP
dbSNP
Number of alleles fetched
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