| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.132905885_132905907del | CA005156 | TSC1 | c.1677_1699del (p.Ser560ArgfsTer19) c.1680_1702del (p.Ser561ArgfsTer19) c.1293_1315del (p.Ser432ArgfsTer19) c.1317_1339del (p.Ser440ArgfsTer19) c.1524_1546del (p.Ser509ArgfsTer19) c.*1450_*1472del (n.*1450_*1472del) c.1527_1549del (p.Ser510ArgfsTer19) c.198_220del (p.Ser67ArgfsTer19) c.417_439del (p.Ser140ArgfsTer19) c.*1447_*1469del (n.*1447_*1469del) n.2055_2077del n.635_657del n.2531_2553del n.645_667del c.*919_*941del (n.*919_*941del) n.2556_2578del n.744_766del c.1314_1336del (p.Ser439ArgfsTer19) | ClinVar dbSNP |
| 9 | g.132905885_132905907dup | CA262182 | TSC1 | c.1677_1699dup (p.Gly567AlafsTer?) c.1680_1702dup (p.Gly568AlafsTer?) c.1293_1315dup (p.Gly439AlafsTer?) c.1317_1339dup (p.Gly447AlafsTer?) c.1524_1546dup (p.Gly516AlafsTer?) c.*1450_*1472dup (n.*1450_*1472dup) c.1527_1549dup (p.Gly517AlafsTer?) c.198_220dup (p.Gly74AlafsTer?) c.417_439dup (p.Gly147AlafsTer?) c.*1447_*1469dup (n.*1447_*1469dup) n.2055_2077dup n.635_657dup n.2531_2553dup n.645_667dup c.*919_*941dup (n.*919_*941dup) n.2556_2578dup n.744_766dup c.1314_1336dup (p.Gly446AlafsTer?) | ClinVar dbSNP |