| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.1753593C>G | CA258042 | CTSD | c.1149G>C (p.Trp383Cys) c.1044G>C (p.Trp348Cys) c.574G>C c.*315G>C (n.*315G>C) c.1266G>C (p.Trp422Cys) c.1071+210G>C (n.1071+210G>C) c.1128G>C (p.Trp376Cys) c.72+210G>C (n.72+210G>C) c.1143G>C (p.Trp381Cys) n.747G>C n.3577G>C c.1131G>C (p.Trp377Cys) c.1140G>C (p.Trp380Cys) n.457G>C c.*1010G>C (n.*1010G>C) c.471+210G>C (n.471+210G>C) c.480G>C (p.Trp160Cys) | ClinVar dbSNP |
| 11 | g.1753593C>A | CA379092527 | CTSD | c.1149G>T (p.Trp383Cys) c.1044G>T (p.Trp348Cys) c.574G>T c.*315G>T (n.*315G>T) c.1266G>T (p.Trp422Cys) c.1071+210G>T (n.1071+210G>T) c.1128G>T (p.Trp376Cys) c.72+210G>T (n.72+210G>T) c.1143G>T (p.Trp381Cys) n.747G>T n.3577G>T c.1131G>T (p.Trp377Cys) c.1140G>T (p.Trp380Cys) n.457G>T c.*1010G>T (n.*1010G>T) c.471+210G>T (n.471+210G>T) c.480G>T (p.Trp160Cys) | dbSNP gnomAD v4 COSMIC |
| 11 | g.1753593C= | CA1947825127 | CTSD | c.1149G= (p.Trp383=) c.1044G= (p.Trp348=) c.574G= c.*315G= (n.*315G=) c.1266G= (p.Trp422=) c.1071+210G= (n.1071+210G=) c.1128G= (p.Trp376=) c.72+210G= (n.72+210G=) c.1143G= (p.Trp381=) n.747G= n.3577G= c.1131G= (p.Trp377=) c.1140G= (p.Trp380=) n.457G= c.*1010G= (n.*1010G=) c.471+210G= (n.471+210G=) c.480G= (p.Trp160=) | dbSNP |