Table 1.
Novel variants detected in Chinese neurofibromatosis 1 (NF1) patients.
| Novel Variants | |||
|---|---|---|---|
| de Novo | Inherited | ||
| Null Variants | Other Variants | Null Variants | Other Variants |
| c.98_104delAAGTCAG p.K33fs*9 | c.758_760delTGG p.V253del | c.1373delC p.P458fs*15 | c.281T > C p.L94P |
| c.964delA p.I322fs*54 | c.2521A > C p.T841P | c.1920dupC p.S641fs*8 | c.1394G > A p.S465N |
| c.1527 + 1C > T | c.2850G > A p.Q950Q | c.2326-2A > C | c.3875A > G p.Y1292C |
| c.3113 + 1dupG | c.4984A > T p.N1662Y | ||
| c.4770_4777delAAGTATTT p.L1590fs | c.4180A > C p.N1394H | ||
| c.4950_4978dup p.N1660fs*27 | c.5081T > C p.L1694P | ||
| c.5206-1G > T | c.5269-8C > G | ||