Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.1757343A>T | CA258041 | CTSD | c.685T>A (p.Phe229Ile) c.580T>A (p.Phe194Ile) c.110T>A c.664T>A (p.Phe222Ile) c.679T>A (p.Phe227Ile) n.283T>A n.3113T>A n.1080T>A c.*546T>A (n.*546T>A) c.85T>A (p.Phe29Ile) c.640T>A (p.Phe214Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1757343A= | CA1947827573 | CTSD | c.685T= (p.Phe229=) c.580T= (p.Phe194=) c.110T= c.664T= (p.Phe222=) c.679T= (p.Phe227=) n.283T= n.3113T= n.1080T= c.*546T= (n.*546T=) c.85T= (p.Phe29=) c.640T= (p.Phe214=) | dbSNP |