| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.150796799T>C | CA119606 | CTSK | c.990A>G (p.Ter330Trp) c.1167A>G (p.Ter389Trp) n.4059A>G c.*284A>G (n.*284A>G) c.867A>G (p.Ter289Trp) c.884A>G (p.Asp295Gly) c.1002A>G (p.Ter334Trp) n.2816A>G n.842A>G c.1032A>G (p.Ter344Trp) c.*882A>G (n.*882A>G) c.1026A>G (p.Ter342Trp) n.2237A>G n.1845A>G n.3952A>G n.3621A>G n.701A>G c.771A>G (p.Ter257Trp) | ClinVar dbSNP COSMIC |
| 1 | g.150796799T= | CA1140886773 | CTSK | c.990A= (p.Ter330=) c.1167A= (p.Ter389=) n.4059A= c.*284A= (n.*284A=) c.867A= (p.Ter289=) c.884A= (p.Asp295=) c.1002A= (p.Ter334=) n.2816A= n.842A= c.1032A= (p.Ter344=) c.*882A= (n.*882A=) c.1026A= (p.Ter342=) n.2237A= n.1845A= n.3952A= n.3621A= n.701A= c.771A= (p.Ter257=) | dbSNP |