Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.116120326T>CCA127224COL10A1,NT5DC1c.529+2381T>C (n.529+2381T>C)
c.1790A>G (p.Tyr597Cys)
c.27+2381T>C
ClinVar dbSNP
6g.116120326T>ACA365386849COL10A1,NT5DC1c.529+2381T>A (n.529+2381T>A)
c.1790A>T (p.Tyr597Phe)
c.27+2381T>A
ClinVar dbSNP

Number of alleles fetched