| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31328175_31335275del | CA277559 | NF1 | c.1797+336_2194+244del c.5591+336_5988+244del c.173+336_570+244del c.-236+1923_162+244del n.2254+336_2651+244del c.5639+336_6036+244del c.5609+336_6006+244del c.5546+336_5943+244del c.4544+336_4941+244del c.5745+336_6142+244del n.926+336_1323+244del c.5600+336_5997+244del c.5576+336_5973+244del c.5636+336_6033+244del | ClinVar |
| 17 | g.31331248_31335275del | CA277562 | NF1 | c.2000+750_2194+244del c.5794+750_5988+244del c.376+750_570+244del c.-33+750_162+244del n.2457+750_2651+244del c.5842+750_6036+244del c.5812+750_6006+244del c.5749+750_5943+244del c.4747+750_4941+244del c.170+750_431+244del c.5948+750_6142+244del n.1129+750_1323+244del c.5803+750_5997+244del c.5779+750_5973+244del c.5839+750_6033+244del | ClinVar |
| 17 | g.31333090_31336734delinsCTA | CA277560 | NF1 | c.5795-1748_6229delinsCTA c.377-1748_811delinsCTA c.-32-1748_403delinsCTA n.2458-1748_2892delinsCTA c.5843-1748_6277delinsCTA c.5813-1748_6247delinsCTA c.5750-1748_6184delinsCTA c.4748-1748_5182delinsCTA c.171-1574_672delinsCTA c.5949-1748_6383delinsCTA c.5804-1748_6238delinsCTA c.5780-1748_6214delinsCTA c.5840-1748_6274delinsCTA | ClinVar |
| 17 | g.31333752_31335275del | CA277586 | NF1 | c.2001-1086_2194+244del c.5795-1086_5988+244del c.377-1086_570+244del c.-32-1086_162+244del n.2458-1086_2651+244del c.5843-1086_6036+244del c.5813-1086_6006+244del c.5750-1086_5943+244del c.4748-1086_4941+244del c.171-912_431+244del c.5949-1086_6142+244del n.1130-1086_1323+244del c.5804-1086_5997+244del c.5780-1086_5973+244del c.5840-1086_6033+244del | ClinVar |
| 17 | g.31334376_31335274delinsGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAGCTCTTCATCTGGTTCAAAATTGTAAATGTCTAGTGCATGTCTCAGAGCCAGAGAAAAGCTAGTTATTTGCACAGTCTCCTTCAAGGCATAAT | CA2255619347 | NF1 | c.2001-462_2194+243delinsGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAGCTCTTCATCTGGTTCAAAATTGTAAATGTCTAGTGCATGTCTCAGAGCCAGAGAAAAGCTAGTTATTTGCACAGTCTCCTTCAAGGCATAAT c.5795-462_5988+243delinsGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAGCTCTTCATCTGGTTCAAAATTGTAAATGTCTAGTGCATGTCTCAGAGCCAGAGAAAAGCTAGTTATTTGCACAGTCTCCTTCAAGGCATAAT c.377-462_570+243delinsGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAGCTCTTCATCTGGTTCAAAATTGTAAATGTCTAGTGCATGTCTCAGAGCCAGAGAAAAGCTAGTTATTTGCACAGTCTCCTTCAAGGCATAAT c.-32-462_162+243delinsGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAGCTCTTCATCTGGTTCAAAATTGTAAATGTCTAGTGCATGTCTCAGAGCCAGAGAAAAGCTAGTTATTTGCACAGTCTCCTTCAAGGCATAAT n.2458-462_2651+243delinsGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAGCTCTTCATCTGGTTCAAAATTGTAAATGTCTAGTGCATGTCTCAGAGCCAGAGAAAAGCTAGTTATTTGCACAGTCTCCTTCAAGGCATAAT c.5843-462_6036+243delinsGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAGCTCTTCATCTGGTTCAAAATTGTAAATGTCTAGTGCATGTCTCAGAGCCAGAGAAAAGCTAGTTATTTGCACAGTCTCCTTCAAGGCATAAT c.5813-462_6006+243delinsGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAGCTCTTCATCTGGTTCAAAATTGTAAATGTCTAGTGCATGTCTCAGAGCCAGAGAAAAGCTAGTTATTTGCACAGTCTCCTTCAAGGCATAAT c.5750-462_5943+243delinsGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAGCTCTTCATCTGGTTCAAAATTGTAAATGTCTAGTGCATGTCTCAGAGCCAGAGAAAAGCTAGTTATTTGCACAGTCTCCTTCAAGGCATAAT c.4748-462_4941+243delinsGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAGCTCTTCATCTGGTTCAAAATTGTAAATGTCTAGTGCATGTCTCAGAGCCAGAGAAAAGCTAGTTATTTGCACAGTCTCCTTCAAGGCATAAT c.171-288_431+243delinsGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAGCTCTTCATCTGGTTCAAAATTGTAAATGTCTAGTGCATGTCTCAGAGCCAGAGAAAAGCTAGTTATTTGCACAGTCTCCTTCAAGGCATAAT c.5949-462_6142+243delinsGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAGCTCTTCATCTGGTTCAAAATTGTAAATGTCTAGTGCATGTCTCAGAGCCAGAGAAAAGCTAGTTATTTGCACAGTCTCCTTCAAGGCATAAT n.1130-462_1323+243delinsGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAGCTCTTCATCTGGTTCAAAATTGTAAATGTCTAGTGCATGTCTCAGAGCCAGAGAAAAGCTAGTTATTTGCACAGTCTCCTTCAAGGCATAAT c.5804-462_5997+243delinsGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAGCTCTTCATCTGGTTCAAAATTGTAAATGTCTAGTGCATGTCTCAGAGCCAGAGAAAAGCTAGTTATTTGCACAGTCTCCTTCAAGGCATAAT c.5780-462_5973+243delinsGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAGCTCTTCATCTGGTTCAAAATTGTAAATGTCTAGTGCATGTCTCAGAGCCAGAGAAAAGCTAGTTATTTGCACAGTCTCCTTCAAGGCATAAT c.5840-462_6033+243delinsGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAGCTCTTCATCTGGTTCAAAATTGTAAATGTCTAGTGCATGTCTCAGAGCCAGAGAAAAGCTAGTTATTTGCACAGTCTCCTTCAAGGCATAAT | |
| 17 | g.31334378_31335275del | CA277536 | NF1 | c.2001-460_2194+244del c.5795-460_5988+244del c.377-460_570+244del c.-32-460_162+244del n.2458-460_2651+244del c.5843-460_6036+244del c.5813-460_6006+244del c.5750-460_5943+244del c.4748-460_4941+244del c.171-286_431+244del c.5949-460_6142+244del n.1130-460_1323+244del c.5804-460_5997+244del c.5780-460_5973+244del c.5840-460_6033+244del | ClinVar dbSNP |
| 17 | g.31334464_31336157del | CA277543 | NF1 | c.2001-374_2195-176del c.5795-374_5989-176del c.377-374_571-176del c.-32-374_163-176del n.2458-374_2652-176del c.5843-374_6037-176del c.5813-374_6007-176del c.5750-374_5944-176del c.4748-374_4942-176del c.171-200_432-176del c.5949-374_6143-176del n.1130-374_1324-176del c.5804-374_5998-176del c.5780-374_5974-176del c.5840-374_6034-176del | ClinVar |
| 17 | g.31334733_31334737delinsAATAG | CA2255619493 | NF1 | c.2001-105_2001-101delinsAATAG (n.2001-105_2001-101delinsAATAG) c.5795-105_5795-101delinsAATAG (n.5795-105_5795-101delinsAATAG) c.377-105_377-101delinsAATAG (n.377-105_377-101delinsAATAG) c.-32-105_-32-101delinsAATAG (n.-32-105_-32-101delinsAATAG) n.2458-105_2458-101delinsAATAG c.5843-105_5843-101delinsAATAG (n.5843-105_5843-101delinsAATAG) c.5813-105_5813-101delinsAATAG (n.5813-105_5813-101delinsAATAG) c.5750-105_5750-101delinsAATAG (n.5750-105_5750-101delinsAATAG) c.4748-105_4748-101delinsAATAG (n.4748-105_4748-101delinsAATAG) c.237+3_237+7delinsAATAG c.5949-105_5949-101delinsAATAG (n.5949-105_5949-101delinsAATAG) n.1130-105_1130-101delinsAATAG c.5804-105_5804-101delinsAATAG (n.5804-105_5804-101delinsAATAG) c.5780-105_5780-101delinsAATAG (n.5780-105_5780-101delinsAATAG) c.5840-105_5840-101delinsAATAG (n.5840-105_5840-101delinsAATAG) | |
| 17 | g.31334734_31334737del | CA728009102 | NF1 | c.2001-104_2001-101del (n.2001-104_2001-101del) c.5795-104_5795-101del (n.5795-104_5795-101del) c.377-104_377-101del (n.377-104_377-101del) c.-32-104_-32-101del (n.-32-104_-32-101del) n.2458-104_2458-101del c.5843-104_5843-101del (n.5843-104_5843-101del) c.5813-104_5813-101del (n.5813-104_5813-101del) c.5750-104_5750-101del (n.5750-104_5750-101del) c.4748-104_4748-101del (n.4748-104_4748-101del) c.237+4_237+7del c.5949-104_5949-101del (n.5949-104_5949-101del) n.1130-104_1130-101del c.5804-104_5804-101del (n.5804-104_5804-101del) c.5780-104_5780-101del (n.5780-104_5780-101del) c.5840-104_5840-101del (n.5840-104_5840-101del) | dbSNP |
| 17 | g.31334736_31334738del | CA2637085679 | NF1 | c.2001-102_2001-100del (n.2001-102_2001-100del) c.5795-102_5795-100del (n.5795-102_5795-100del) c.377-102_377-100del (n.377-102_377-100del) c.-32-102_-32-100del (n.-32-102_-32-100del) n.2458-102_2458-100del c.5843-102_5843-100del (n.5843-102_5843-100del) c.5813-102_5813-100del (n.5813-102_5813-100del) c.5750-102_5750-100del (n.5750-102_5750-100del) c.4748-102_4748-100del (n.4748-102_4748-100del) c.237+6_237+8del c.5949-102_5949-100del (n.5949-102_5949-100del) n.1130-102_1130-100del c.5804-102_5804-100del (n.5804-102_5804-100del) c.5780-102_5780-100del (n.5780-102_5780-100del) c.5840-102_5840-100del (n.5840-102_5840-100del) | gnomAD v4 |
| 17 | g.31334737G>A | CA2637085682 | NF1 | c.2001-101G>A (n.2001-101G>A) c.5795-101G>A (n.5795-101G>A) c.377-101G>A (n.377-101G>A) c.-32-101G>A (n.-32-101G>A) n.2458-101G>A c.5843-101G>A (n.5843-101G>A) c.5813-101G>A (n.5813-101G>A) c.5750-101G>A (n.5750-101G>A) c.4748-101G>A (n.4748-101G>A) c.237+7G>A c.5949-101G>A (n.5949-101G>A) n.1130-101G>A c.5804-101G>A (n.5804-101G>A) c.5780-101G>A (n.5780-101G>A) c.5840-101G>A (n.5840-101G>A) | gnomAD v4 |
| 17 | g.31334739C>A | CA2637085683 | NF1 | c.2001-99C>A (n.2001-99C>A) c.5795-99C>A (n.5795-99C>A) c.377-99C>A (n.377-99C>A) c.-32-99C>A (n.-32-99C>A) n.2458-99C>A c.5843-99C>A (n.5843-99C>A) c.5813-99C>A (n.5813-99C>A) c.5750-99C>A (n.5750-99C>A) c.4748-99C>A (n.4748-99C>A) c.237+9C>A c.5949-99C>A (n.5949-99C>A) n.1130-99C>A c.5804-99C>A (n.5804-99C>A) c.5780-99C>A (n.5780-99C>A) c.5840-99C>A (n.5840-99C>A) | gnomAD v4 |
| 17 | g.31334740T>G | CA2637085684 | NF1 | c.2001-98T>G (n.2001-98T>G) c.5795-98T>G (n.5795-98T>G) c.377-98T>G (n.377-98T>G) c.-32-98T>G (n.-32-98T>G) n.2458-98T>G c.5843-98T>G (n.5843-98T>G) c.5813-98T>G (n.5813-98T>G) c.5750-98T>G (n.5750-98T>G) c.4748-98T>G (n.4748-98T>G) c.237+10T>G c.5949-98T>G (n.5949-98T>G) n.1130-98T>G c.5804-98T>G (n.5804-98T>G) c.5780-98T>G (n.5780-98T>G) c.5840-98T>G (n.5840-98T>G) | gnomAD v4 |
| 17 | g.31334742del | CA2576223567 | NF1 | c.2001-96del (n.2001-96del) c.5795-96del (n.5795-96del) c.377-96del (n.377-96del) c.-32-96del (n.-32-96del) n.2458-96del c.5843-96del (n.5843-96del) c.5813-96del (n.5813-96del) c.5750-96del (n.5750-96del) c.4748-96del (n.4748-96del) c.237+12del c.5949-96del (n.5949-96del) n.1130-96del c.5804-96del (n.5804-96del) c.5780-96del (n.5780-96del) c.5840-96del (n.5840-96del) | |
| 17 | g.31334741_31334742del | CA2576223568 | NF1 | c.2001-97_2001-96del (n.2001-97_2001-96del) c.5795-97_5795-96del (n.5795-97_5795-96del) c.377-97_377-96del (n.377-97_377-96del) c.-32-97_-32-96del (n.-32-97_-32-96del) n.2458-97_2458-96del c.5843-97_5843-96del (n.5843-97_5843-96del) c.5813-97_5813-96del (n.5813-97_5813-96del) c.5750-97_5750-96del (n.5750-97_5750-96del) c.4748-97_4748-96del (n.4748-97_4748-96del) c.237+11_237+12del c.5949-97_5949-96del (n.5949-97_5949-96del) n.1130-97_1130-96del c.5804-97_5804-96del (n.5804-97_5804-96del) c.5780-97_5780-96del (n.5780-97_5780-96del) c.5840-97_5840-96del (n.5840-97_5840-96del) | gnomAD v4 |
| 17 | g.31334741T>G | CA8487245 | NF1 | c.2001-97T>G (n.2001-97T>G) c.5795-97T>G (n.5795-97T>G) c.377-97T>G (n.377-97T>G) c.-32-97T>G (n.-32-97T>G) n.2458-97T>G c.5843-97T>G (n.5843-97T>G) c.5813-97T>G (n.5813-97T>G) c.5750-97T>G (n.5750-97T>G) c.4748-97T>G (n.4748-97T>G) c.237+11T>G c.5949-97T>G (n.5949-97T>G) n.1130-97T>G c.5804-97T>G (n.5804-97T>G) c.5780-97T>G (n.5780-97T>G) c.5840-97T>G (n.5840-97T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.31334741T= | CA2255619494 | NF1 | c.2001-97T= (n.2001-97T=) c.5795-97T= (n.5795-97T=) c.377-97T= (n.377-97T=) c.-32-97T= (n.-32-97T=) n.2458-97T= c.5843-97T= (n.5843-97T=) c.5813-97T= (n.5813-97T=) c.5750-97T= (n.5750-97T=) c.4748-97T= (n.4748-97T=) c.237+11T= c.5949-97T= (n.5949-97T=) n.1130-97T= c.5804-97T= (n.5804-97T=) c.5780-97T= (n.5780-97T=) c.5840-97T= (n.5840-97T=) | |
| 17 | g.31334742T>C | CA2576223570 | NF1 | c.2001-96T>C (n.2001-96T>C) c.5795-96T>C (n.5795-96T>C) c.377-96T>C (n.377-96T>C) c.-32-96T>C (n.-32-96T>C) n.2458-96T>C c.5843-96T>C (n.5843-96T>C) c.5813-96T>C (n.5813-96T>C) c.5750-96T>C (n.5750-96T>C) c.4748-96T>C (n.4748-96T>C) c.237+12T>C c.5949-96T>C (n.5949-96T>C) n.1130-96T>C c.5804-96T>C (n.5804-96T>C) c.5780-96T>C (n.5780-96T>C) c.5840-96T>C (n.5840-96T>C) | |
| 17 | g.31334743A>G | CA2637085685 | NF1 | c.2001-95A>G (n.2001-95A>G) c.5795-95A>G (n.5795-95A>G) c.377-95A>G (n.377-95A>G) c.-32-95A>G (n.-32-95A>G) n.2458-95A>G c.5843-95A>G (n.5843-95A>G) c.5813-95A>G (n.5813-95A>G) c.5750-95A>G (n.5750-95A>G) c.4748-95A>G (n.4748-95A>G) c.237+13A>G c.5949-95A>G (n.5949-95A>G) n.1130-95A>G c.5804-95A>G (n.5804-95A>G) c.5780-95A>G (n.5780-95A>G) c.5840-95A>G (n.5840-95A>G) | gnomAD v4 |
| 17 | g.31334744C= | CA2255619495 | NF1 | c.2001-94C= (n.2001-94C=) c.5795-94C= (n.5795-94C=) c.377-94C= (n.377-94C=) c.-32-94C= (n.-32-94C=) n.2458-94C= c.5843-94C= (n.5843-94C=) c.5813-94C= (n.5813-94C=) c.5750-94C= (n.5750-94C=) c.4748-94C= (n.4748-94C=) c.237+14C= c.5949-94C= (n.5949-94C=) n.1130-94C= c.5804-94C= (n.5804-94C=) c.5780-94C= (n.5780-94C=) c.5840-94C= (n.5840-94C=) | |
| 17 | g.31334744C>T | CA8487246 | NF1 | c.2001-94C>T (n.2001-94C>T) c.5795-94C>T (n.5795-94C>T) c.377-94C>T (n.377-94C>T) c.-32-94C>T (n.-32-94C>T) n.2458-94C>T c.5843-94C>T (n.5843-94C>T) c.5813-94C>T (n.5813-94C>T) c.5750-94C>T (n.5750-94C>T) c.4748-94C>T (n.4748-94C>T) c.237+14C>T c.5949-94C>T (n.5949-94C>T) n.1130-94C>T c.5804-94C>T (n.5804-94C>T) c.5780-94C>T (n.5780-94C>T) c.5840-94C>T (n.5840-94C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.31334745C>A | CA625471455 | NF1 | c.2001-93C>A (n.2001-93C>A) c.5795-93C>A (n.5795-93C>A) c.377-93C>A (n.377-93C>A) c.-32-93C>A (n.-32-93C>A) n.2458-93C>A c.5843-93C>A (n.5843-93C>A) c.5813-93C>A (n.5813-93C>A) c.5750-93C>A (n.5750-93C>A) c.4748-93C>A (n.4748-93C>A) c.237+15C>A c.5949-93C>A (n.5949-93C>A) n.1130-93C>A c.5804-93C>A (n.5804-93C>A) c.5780-93C>A (n.5780-93C>A) c.5840-93C>A (n.5840-93C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.31334745C= | CA2255619496 | NF1 | c.2001-93C= (n.2001-93C=) c.5795-93C= (n.5795-93C=) c.377-93C= (n.377-93C=) c.-32-93C= (n.-32-93C=) n.2458-93C= c.5843-93C= (n.5843-93C=) c.5813-93C= (n.5813-93C=) c.5750-93C= (n.5750-93C=) c.4748-93C= (n.4748-93C=) c.237+15C= c.5949-93C= (n.5949-93C=) n.1130-93C= c.5804-93C= (n.5804-93C=) c.5780-93C= (n.5780-93C=) c.5840-93C= (n.5840-93C=) | |
| 17 | g.31334745C>T | CA8487247 | NF1 | c.2001-93C>T (n.2001-93C>T) c.5795-93C>T (n.5795-93C>T) c.377-93C>T (n.377-93C>T) c.-32-93C>T (n.-32-93C>T) n.2458-93C>T c.5843-93C>T (n.5843-93C>T) c.5813-93C>T (n.5813-93C>T) c.5750-93C>T (n.5750-93C>T) c.4748-93C>T (n.4748-93C>T) c.237+15C>T c.5949-93C>T (n.5949-93C>T) n.1130-93C>T c.5804-93C>T (n.5804-93C>T) c.5780-93C>T (n.5780-93C>T) c.5840-93C>T (n.5840-93C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.31334746T>A | CA2637085686 | NF1 | c.2001-92T>A (n.2001-92T>A) c.5795-92T>A (n.5795-92T>A) c.377-92T>A (n.377-92T>A) c.-32-92T>A (n.-32-92T>A) n.2458-92T>A c.5843-92T>A (n.5843-92T>A) c.5813-92T>A (n.5813-92T>A) c.5750-92T>A (n.5750-92T>A) c.4748-92T>A (n.4748-92T>A) c.237+16T>A c.5949-92T>A (n.5949-92T>A) n.1130-92T>A c.5804-92T>A (n.5804-92T>A) c.5780-92T>A (n.5780-92T>A) c.5840-92T>A (n.5840-92T>A) | gnomAD v4 |
| 17 | g.31334746T>C | CA2637085687 | NF1 | c.2001-92T>C (n.2001-92T>C) c.5795-92T>C (n.5795-92T>C) c.377-92T>C (n.377-92T>C) c.-32-92T>C (n.-32-92T>C) n.2458-92T>C c.5843-92T>C (n.5843-92T>C) c.5813-92T>C (n.5813-92T>C) c.5750-92T>C (n.5750-92T>C) c.4748-92T>C (n.4748-92T>C) c.237+16T>C c.5949-92T>C (n.5949-92T>C) n.1130-92T>C c.5804-92T>C (n.5804-92T>C) c.5780-92T>C (n.5780-92T>C) c.5840-92T>C (n.5840-92T>C) | gnomAD v4 |
| 17 | g.31334746T>G | CA728009115 | NF1 | c.2001-92T>G (n.2001-92T>G) c.5795-92T>G (n.5795-92T>G) c.377-92T>G (n.377-92T>G) c.-32-92T>G (n.-32-92T>G) n.2458-92T>G c.5843-92T>G (n.5843-92T>G) c.5813-92T>G (n.5813-92T>G) c.5750-92T>G (n.5750-92T>G) c.4748-92T>G (n.4748-92T>G) c.237+16T>G c.5949-92T>G (n.5949-92T>G) n.1130-92T>G c.5804-92T>G (n.5804-92T>G) c.5780-92T>G (n.5780-92T>G) c.5840-92T>G (n.5840-92T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.31334746T= | CA2255619497 | NF1 | c.2001-92T= (n.2001-92T=) c.5795-92T= (n.5795-92T=) c.377-92T= (n.377-92T=) c.-32-92T= (n.-32-92T=) n.2458-92T= c.5843-92T= (n.5843-92T=) c.5813-92T= (n.5813-92T=) c.5750-92T= (n.5750-92T=) c.4748-92T= (n.4748-92T=) c.237+16T= c.5949-92T= (n.5949-92T=) n.1130-92T= c.5804-92T= (n.5804-92T=) c.5780-92T= (n.5780-92T=) c.5840-92T= (n.5840-92T=) | |
| 17 | g.31334749del | CA2576223572 | NF1 | c.2001-89del (n.2001-89del) c.5795-89del (n.5795-89del) c.377-89del (n.377-89del) c.-32-89del (n.-32-89del) n.2458-89del c.5843-89del (n.5843-89del) c.5813-89del (n.5813-89del) c.5750-89del (n.5750-89del) c.4748-89del (n.4748-89del) c.237+19del c.5949-89del (n.5949-89del) n.1130-89del c.5804-89del (n.5804-89del) c.5780-89del (n.5780-89del) c.5840-89del (n.5840-89del) | gnomAD v4 |
| 17 | g.31334747T>A | CA625471457 | NF1 | c.2001-91T>A (n.2001-91T>A) c.5795-91T>A (n.5795-91T>A) c.377-91T>A (n.377-91T>A) c.-32-91T>A (n.-32-91T>A) n.2458-91T>A c.5843-91T>A (n.5843-91T>A) c.5813-91T>A (n.5813-91T>A) c.5750-91T>A (n.5750-91T>A) c.4748-91T>A (n.4748-91T>A) c.237+17T>A c.5949-91T>A (n.5949-91T>A) n.1130-91T>A c.5804-91T>A (n.5804-91T>A) c.5780-91T>A (n.5780-91T>A) c.5840-91T>A (n.5840-91T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.31334747T= | CA2255619498 | NF1 | c.2001-91T= (n.2001-91T=) c.5795-91T= (n.5795-91T=) c.377-91T= (n.377-91T=) c.-32-91T= (n.-32-91T=) n.2458-91T= c.5843-91T= (n.5843-91T=) c.5813-91T= (n.5813-91T=) c.5750-91T= (n.5750-91T=) c.4748-91T= (n.4748-91T=) c.237+17T= c.5949-91T= (n.5949-91T=) n.1130-91T= c.5804-91T= (n.5804-91T=) c.5780-91T= (n.5780-91T=) c.5840-91T= (n.5840-91T=) | |
| 17 | g.31334750A>G | CA2637085688 | NF1 | c.2001-88A>G (n.2001-88A>G) c.5795-88A>G (n.5795-88A>G) c.377-88A>G (n.377-88A>G) c.-32-88A>G (n.-32-88A>G) n.2458-88A>G c.5843-88A>G (n.5843-88A>G) c.5813-88A>G (n.5813-88A>G) c.5750-88A>G (n.5750-88A>G) c.4748-88A>G (n.4748-88A>G) c.237+20A>G c.5949-88A>G (n.5949-88A>G) n.1130-88A>G c.5804-88A>G (n.5804-88A>G) c.5780-88A>G (n.5780-88A>G) c.5840-88A>G (n.5840-88A>G) | gnomAD v4 |
| 17 | g.31334750A>T | CA2576223574 | NF1 | c.2001-88A>T (n.2001-88A>T) c.5795-88A>T (n.5795-88A>T) c.377-88A>T (n.377-88A>T) c.-32-88A>T (n.-32-88A>T) n.2458-88A>T c.5843-88A>T (n.5843-88A>T) c.5813-88A>T (n.5813-88A>T) c.5750-88A>T (n.5750-88A>T) c.4748-88A>T (n.4748-88A>T) c.237+20A>T c.5949-88A>T (n.5949-88A>T) n.1130-88A>T c.5804-88A>T (n.5804-88A>T) c.5780-88A>T (n.5780-88A>T) c.5840-88A>T (n.5840-88A>T) | gnomAD v4 |
| 17 | g.31334751C>A | CA2576223575 | NF1 | c.2001-87C>A (n.2001-87C>A) c.5795-87C>A (n.5795-87C>A) c.377-87C>A (n.377-87C>A) c.-32-87C>A (n.-32-87C>A) n.2458-87C>A c.5843-87C>A (n.5843-87C>A) c.5813-87C>A (n.5813-87C>A) c.5750-87C>A (n.5750-87C>A) c.4748-87C>A (n.4748-87C>A) c.237+21C>A c.5949-87C>A (n.5949-87C>A) n.1130-87C>A c.5804-87C>A (n.5804-87C>A) c.5780-87C>A (n.5780-87C>A) c.5840-87C>A (n.5840-87C>A) | gnomAD v4 |
| 17 | g.31334752C>A | CA2637085689 | NF1 | c.2001-86C>A (n.2001-86C>A) c.5795-86C>A (n.5795-86C>A) c.377-86C>A (n.377-86C>A) c.-32-86C>A (n.-32-86C>A) n.2458-86C>A c.5843-86C>A (n.5843-86C>A) c.5813-86C>A (n.5813-86C>A) c.5750-86C>A (n.5750-86C>A) c.4748-86C>A (n.4748-86C>A) c.237+22C>A c.5949-86C>A (n.5949-86C>A) n.1130-86C>A c.5804-86C>A (n.5804-86C>A) c.5780-86C>A (n.5780-86C>A) c.5840-86C>A (n.5840-86C>A) | gnomAD v4 |
| 17 | g.31334753A= | CA2255619499 | NF1 | c.2001-85A= (n.2001-85A=) c.5795-85A= (n.5795-85A=) c.377-85A= (n.377-85A=) c.-32-85A= (n.-32-85A=) n.2458-85A= c.5843-85A= (n.5843-85A=) c.5813-85A= (n.5813-85A=) c.5750-85A= (n.5750-85A=) c.4748-85A= (n.4748-85A=) c.237+23A= c.5949-85A= (n.5949-85A=) n.1130-85A= c.5804-85A= (n.5804-85A=) c.5780-85A= (n.5780-85A=) c.5840-85A= (n.5840-85A=) | |
| 17 | g.31334753A>G | CA289384233 | NF1 | c.2001-85A>G (n.2001-85A>G) c.5795-85A>G (n.5795-85A>G) c.377-85A>G (n.377-85A>G) c.-32-85A>G (n.-32-85A>G) n.2458-85A>G c.5843-85A>G (n.5843-85A>G) c.5813-85A>G (n.5813-85A>G) c.5750-85A>G (n.5750-85A>G) c.4748-85A>G (n.4748-85A>G) c.237+23A>G c.5949-85A>G (n.5949-85A>G) n.1130-85A>G c.5804-85A>G (n.5804-85A>G) c.5780-85A>G (n.5780-85A>G) c.5840-85A>G (n.5840-85A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.31334753_31334754delinsAT | CA2255619500 | NF1 | c.2001-85_2001-84delinsAT (n.2001-85_2001-84delinsAT) c.5795-85_5795-84delinsAT (n.5795-85_5795-84delinsAT) c.377-85_377-84delinsAT (n.377-85_377-84delinsAT) c.-32-85_-32-84delinsAT (n.-32-85_-32-84delinsAT) n.2458-85_2458-84delinsAT c.5843-85_5843-84delinsAT (n.5843-85_5843-84delinsAT) c.5813-85_5813-84delinsAT (n.5813-85_5813-84delinsAT) c.5750-85_5750-84delinsAT (n.5750-85_5750-84delinsAT) c.4748-85_4748-84delinsAT (n.4748-85_4748-84delinsAT) c.237+23_237+24delinsAT c.5949-85_5949-84delinsAT (n.5949-85_5949-84delinsAT) n.1130-85_1130-84delinsAT c.5804-85_5804-84delinsAT (n.5804-85_5804-84delinsAT) c.5780-85_5780-84delinsAT (n.5780-85_5780-84delinsAT) c.5840-85_5840-84delinsAT (n.5840-85_5840-84delinsAT) | |
| 17 | g.31334754T>C | CA8487249 | NF1 | c.2001-84T>C (n.2001-84T>C) c.5795-84T>C (n.5795-84T>C) c.377-84T>C (n.377-84T>C) c.-32-84T>C (n.-32-84T>C) n.2458-84T>C c.5843-84T>C (n.5843-84T>C) c.5813-84T>C (n.5813-84T>C) c.5750-84T>C (n.5750-84T>C) c.4748-84T>C (n.4748-84T>C) c.237+24T>C c.5949-84T>C (n.5949-84T>C) n.1130-84T>C c.5804-84T>C (n.5804-84T>C) c.5780-84T>C (n.5780-84T>C) c.5840-84T>C (n.5840-84T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.31334754T= | CA2255619501 | NF1 | c.2001-84T= (n.2001-84T=) c.5795-84T= (n.5795-84T=) c.377-84T= (n.377-84T=) c.-32-84T= (n.-32-84T=) n.2458-84T= c.5843-84T= (n.5843-84T=) c.5813-84T= (n.5813-84T=) c.5750-84T= (n.5750-84T=) c.4748-84T= (n.4748-84T=) c.237+24T= c.5949-84T= (n.5949-84T=) n.1130-84T= c.5804-84T= (n.5804-84T=) c.5780-84T= (n.5780-84T=) c.5840-84T= (n.5840-84T=) | |
| 17 | g.31334759dup | CA625780811 | NF1 | c.2001-79dup (n.2001-79dup) c.5795-79dup (n.5795-79dup) c.377-79dup (n.377-79dup) c.-32-79dup (n.-32-79dup) n.2458-79dup c.5843-79dup (n.5843-79dup) c.5813-79dup (n.5813-79dup) c.5750-79dup (n.5750-79dup) c.4748-79dup (n.4748-79dup) c.237+29dup c.5949-79dup (n.5949-79dup) n.1130-79dup c.5804-79dup (n.5804-79dup) c.5780-79dup (n.5780-79dup) c.5840-79dup (n.5840-79dup) | gnomAD v2 gnomAD v4 |
| 17 | g.31334759del | CA8487248 | NF1 | c.2001-79del (n.2001-79del) c.5795-79del (n.5795-79del) c.377-79del (n.377-79del) c.-32-79del (n.-32-79del) n.2458-79del c.5843-79del (n.5843-79del) c.5813-79del (n.5813-79del) c.5750-79del (n.5750-79del) c.4748-79del (n.4748-79del) c.237+29del c.5949-79del (n.5949-79del) n.1130-79del c.5804-79del (n.5804-79del) c.5780-79del (n.5780-79del) c.5840-79del (n.5840-79del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.31334755T>C | CA625780812 | NF1 | c.2001-83T>C (n.2001-83T>C) c.5795-83T>C (n.5795-83T>C) c.377-83T>C (n.377-83T>C) c.-32-83T>C (n.-32-83T>C) n.2458-83T>C c.5843-83T>C (n.5843-83T>C) c.5813-83T>C (n.5813-83T>C) c.5750-83T>C (n.5750-83T>C) c.4748-83T>C (n.4748-83T>C) c.237+25T>C c.5949-83T>C (n.5949-83T>C) n.1130-83T>C c.5804-83T>C (n.5804-83T>C) c.5780-83T>C (n.5780-83T>C) c.5840-83T>C (n.5840-83T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.31334755T>G | CA625780813 | NF1 | c.2001-83T>G (n.2001-83T>G) c.5795-83T>G (n.5795-83T>G) c.377-83T>G (n.377-83T>G) c.-32-83T>G (n.-32-83T>G) n.2458-83T>G c.5843-83T>G (n.5843-83T>G) c.5813-83T>G (n.5813-83T>G) c.5750-83T>G (n.5750-83T>G) c.4748-83T>G (n.4748-83T>G) c.237+25T>G c.5949-83T>G (n.5949-83T>G) n.1130-83T>G c.5804-83T>G (n.5804-83T>G) c.5780-83T>G (n.5780-83T>G) c.5840-83T>G (n.5840-83T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.31334755T= | CA2255619502 | NF1 | c.2001-83T= (n.2001-83T=) c.5795-83T= (n.5795-83T=) c.377-83T= (n.377-83T=) c.-32-83T= (n.-32-83T=) n.2458-83T= c.5843-83T= (n.5843-83T=) c.5813-83T= (n.5813-83T=) c.5750-83T= (n.5750-83T=) c.4748-83T= (n.4748-83T=) c.237+25T= c.5949-83T= (n.5949-83T=) n.1130-83T= c.5804-83T= (n.5804-83T=) c.5780-83T= (n.5780-83T=) c.5840-83T= (n.5840-83T=) | |
| 17 | g.31334757T>C | CA289384249 | NF1 | c.2001-81T>C (n.2001-81T>C) c.5795-81T>C (n.5795-81T>C) c.377-81T>C (n.377-81T>C) c.-32-81T>C (n.-32-81T>C) n.2458-81T>C c.5843-81T>C (n.5843-81T>C) c.5813-81T>C (n.5813-81T>C) c.5750-81T>C (n.5750-81T>C) c.4748-81T>C (n.4748-81T>C) c.237+27T>C c.5949-81T>C (n.5949-81T>C) n.1130-81T>C c.5804-81T>C (n.5804-81T>C) c.5780-81T>C (n.5780-81T>C) c.5840-81T>C (n.5840-81T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.31334757T= | CA2255619503 | NF1 | c.2001-81T= (n.2001-81T=) c.5795-81T= (n.5795-81T=) c.377-81T= (n.377-81T=) c.-32-81T= (n.-32-81T=) n.2458-81T= c.5843-81T= (n.5843-81T=) c.5813-81T= (n.5813-81T=) c.5750-81T= (n.5750-81T=) c.4748-81T= (n.4748-81T=) c.237+27T= c.5949-81T= (n.5949-81T=) n.1130-81T= c.5804-81T= (n.5804-81T=) c.5780-81T= (n.5780-81T=) c.5840-81T= (n.5840-81T=) | |
| 17 | g.31334759T>A | CA2255619506 | NF1 | c.2001-79T>A (n.2001-79T>A) c.5795-79T>A (n.5795-79T>A) c.377-79T>A (n.377-79T>A) c.-32-79T>A (n.-32-79T>A) n.2458-79T>A c.5843-79T>A (n.5843-79T>A) c.5813-79T>A (n.5813-79T>A) c.5750-79T>A (n.5750-79T>A) c.4748-79T>A (n.4748-79T>A) c.237+29T>A c.5949-79T>A (n.5949-79T>A) n.1130-79T>A c.5804-79T>A (n.5804-79T>A) c.5780-79T>A (n.5780-79T>A) c.5840-79T>A (n.5840-79T>A) | dbSNP |
| 17 | g.31334759T>C | CA8487250 | NF1 | c.2001-79T>C (n.2001-79T>C) c.5795-79T>C (n.5795-79T>C) c.377-79T>C (n.377-79T>C) c.-32-79T>C (n.-32-79T>C) n.2458-79T>C c.5843-79T>C (n.5843-79T>C) c.5813-79T>C (n.5813-79T>C) c.5750-79T>C (n.5750-79T>C) c.4748-79T>C (n.4748-79T>C) c.237+29T>C c.5949-79T>C (n.5949-79T>C) n.1130-79T>C c.5804-79T>C (n.5804-79T>C) c.5780-79T>C (n.5780-79T>C) c.5840-79T>C (n.5840-79T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.31334759T= | CA2255619505 | NF1 | c.2001-79T= (n.2001-79T=) c.5795-79T= (n.5795-79T=) c.377-79T= (n.377-79T=) c.-32-79T= (n.-32-79T=) n.2458-79T= c.5843-79T= (n.5843-79T=) c.5813-79T= (n.5813-79T=) c.5750-79T= (n.5750-79T=) c.4748-79T= (n.4748-79T=) c.237+29T= c.5949-79T= (n.5949-79T=) n.1130-79T= c.5804-79T= (n.5804-79T=) c.5780-79T= (n.5780-79T=) c.5840-79T= (n.5840-79T=) |