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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
6
g.116120326T>C
CA127224
COL10A1,NT5DC1
c.529+2381T>C (n.529+2381T>C)
c.1790A>G (p.Tyr597Cys)
c.27+2381T>C
ClinVar
dbSNP
6
g.116120326T>A
CA365386849
COL10A1,NT5DC1
c.529+2381T>A (n.529+2381T>A)
c.1790A>T (p.Tyr597Phe)
c.27+2381T>A
ClinVar
dbSNP
Number of alleles fetched
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