NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)
|
rs137854557
|
0.00001
|
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)
|
rs760703505
|
0.00001
|
NM_000267.3(NF1):c.6756+2_6763del
|
rs1597845213
|
|
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter)
|
rs876657715
|
|
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs)
|
rs1555610903
|
|
NM_001042492.3(NF1):c.1198C>T (p.Gln400Ter)
|
rs1597682751
|
|
NM_001042492.3(NF1):c.1603C>T (p.Gln535Ter)
|
rs1567843917
|
|
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)
|
rs199474738
|
|
NM_001042492.3(NF1):c.1992dup (p.Ser665fs)
|
rs1597710824
|
|
NM_001042492.3(NF1):c.2002-1G>C
|
rs1555613743
|
|
NM_001042492.3(NF1):c.2019C>A (p.Cys673Ter)
|
rs146624509
|
|
NM_001042492.3(NF1):c.2033dup (p.Ile679fs)
|
rs587781807
|
|
NM_001042492.3(NF1):c.2044C>T (p.Gln682Ter)
|
rs1597712392
|
|
NM_001042492.3(NF1):c.205-1G>T
|
rs1555605362
|
|
NM_001042492.3(NF1):c.289C>T (p.Gln97Ter)
|
rs1597635615
|
|
NM_001042492.3(NF1):c.2947del (p.His982_Leu983insTer)
|
rs1597716380
|
|
NM_001042492.3(NF1):c.3113+1G>A
|
rs267606599
|
|
NM_001042492.3(NF1):c.3187_3188insTA (p.Cys1063fs)
|
rs1597717684
|
|
NM_001042492.3(NF1):c.3712G>T (p.Glu1238Ter)
|
rs1060500346
|
|
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)
|
rs376576925
|
|
NM_001042492.3(NF1):c.4183_4186del (p.Gln1395fs)
|
rs2151461771
|
|
NM_001042492.3(NF1):c.4236_4237del (p.Arg1412fs)
|
rs2151461956
|
|
NM_001042492.3(NF1):c.4756_4772del (p.Ala1586fs)
|
rs1597753208
|
|
NM_001042492.3(NF1):c.499_502del (p.Cys167fs)
|
rs786201874
|
|
NM_001042492.3(NF1):c.503C>G (p.Ser168Ter)
|
rs1131691994
|
|
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer)
|
rs1597829906
|
|
NM_001042492.3(NF1):c.5046delinsGGTTAC (p.Cys1682fs)
|
rs1597829913
|
|
NM_001042492.3(NF1):c.5130del (p.Cys1711fs)
|
rs1597830078
|
|
NM_001042492.3(NF1):c.5199dup (p.Glu1734fs)
|
rs1597830232
|
|
NM_001042492.3(NF1):c.5392C>T (p.Gln1798Ter)
|
rs1597832043
|
|
NM_001042492.3(NF1):c.5697T>A (p.Cys1899Ter)
|
rs1597834760
|
|
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter)
|
rs137854552
|
|
NM_001042492.3(NF1):c.5980_5983del (p.Ala1994fs)
|
rs1597840291
|
|
NM_001042492.3(NF1):c.6225G>A (p.Trp2075Ter)
|
rs1555534677
|
|
NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs)
|
rs1597843186
|
|
NM_001042492.3(NF1):c.643del (p.Ser215fs)
|
rs1597658192
|
|
NM_001042492.3(NF1):c.654+1G>A
|
rs1060500245
|
|
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter)
|
rs876658541
|
|
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])
|
rs864622639
|
|
NM_001042492.3(NF1):c.731-2A>C
|
rs1555608924
|
|
NM_001042492.3(NF1):c.786_787insTT (p.Lys263fs)
|
rs1597659879
|
|
NM_001042492.3(NF1):c.7898del (p.Glu2633fs)
|
rs1597866854
|
|
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)
|
rs786201367
|
|