| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.132905882_132905883insAG | CA16618769 | TSC1 | c.1693_1694insTC (p.Pro565LeufsTer?) c.1696_1697insTC (p.Pro566LeufsTer?) c.1309_1310insTC (p.Pro437LeufsTer?) c.1333_1334insTC (p.Pro445LeufsTer?) c.1540_1541insTC (p.Pro514LeufsTer?) c.*1466_*1467insTC (n.*1466_*1467insTC) c.1543_1544insTC (p.Pro515LeufsTer?) c.214_215insTC (p.Pro72LeufsTer?) c.433_434insTC (p.Pro145LeufsTer?) c.*1463_*1464insTC (n.*1463_*1464insTC) n.2071_2072insTC n.651_652insTC n.2547_2548insTC n.661_662insTC c.*935_*936insTC (n.*935_*936insTC) n.2572_2573insTC n.760_761insTC c.1330_1331insTC (p.Pro444LeufsTer?) | ClinVar dbSNP |
| 9 | g.132905882G= | CA3165921479 | TSC1 | c.1693C= (p.Pro565=) c.1696C= (p.Pro566=) c.1309C= (p.Pro437=) c.1333C= (p.Pro445=) c.1540C= (p.Pro514=) c.*1466C= (n.*1466C=) c.1543C= (p.Pro515=) c.214C= (p.Pro72=) c.433C= (p.Pro145=) c.*1463C= (n.*1463C=) n.2071C= n.651C= n.2547C= n.661C= c.*935C= (n.*935C=) n.2572C= n.760C= c.1330C= (p.Pro444=) | dbSNP dbSNP |