| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36219968del | CA10606772 | CLTA,GNE | c.1779del (p.Cys594ValfsTer?) c.1509del (p.Cys504ValfsTer?) c.1686del (p.Cys563ValfsTer?) c.1464del (p.Cys489ValfsTer?) c.485+15789del (n.485+15789del) c.1356del (p.Cys453ValfsTer?) c.1671del (p.Cys558ValfsTer?) c.1626del (p.Cys543ValfsTer?) c.1533del (p.Cys512ValfsTer?) | ClinVar dbSNP |
| 9 | g.36219968G= | CA3165609039 | CLTA,GNE | c.1779C= (p.Phe593=) c.1509C= (p.Phe503=) c.1686C= (p.Phe562=) c.1464C= (p.Phe488=) c.485+15789G= (n.485+15789G=) c.1356C= (p.Phe452=) c.1671C= (p.Phe557=) c.1626C= (p.Phe542=) c.1533C= (p.Phe511=) | dbSNP dbSNP |