| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.88296166G>A | CA118679 | CTSC | c.856C>T (p.Gln286Ter) n.5169C>T c.*663C>T (n.*663C>T) c.*362C>T (n.*362C>T) c.*533C>T (n.*533C>T) c.817C>T (p.Gln273Ter) c.*507C>T (n.*507C>T) c.758-1658C>T (n.758-1658C>T) c.493C>T (p.Gln165Ter) c.726C>T n.3590C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.88296166G>T | CA382022429 | CTSC | c.856C>A (p.Gln286Lys) n.5169C>A c.*663C>A (n.*663C>A) c.*362C>A (n.*362C>A) c.*533C>A (n.*533C>A) c.817C>A (p.Gln273Lys) c.*507C>A (n.*507C>A) c.758-1658C>A (n.758-1658C>A) c.493C>A (p.Gln165Lys) c.726C>A n.3590C>A | dbSNP gnomAD v4 |
| 11 | g.88296166G= | CA1989483557 | CTSC | c.856C= (p.Gln286=) n.5169C= c.*663C= (n.*663C=) c.*362C= (n.*362C=) c.*533C= (n.*533C=) c.817C= (p.Gln273=) c.*507C= (n.*507C=) c.758-1658C= (n.758-1658C=) c.493C= (p.Gln165=) c.726C= n.3590C= | dbSNP |