NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter)
|
rs778405030
|
0.00001
|
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)
|
rs137854557
|
0.00001
|
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs)
|
rs267606600
|
0.00001
|
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)
|
rs768638173
|
0.00001
|
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr)
|
rs199474728
|
0.00001
|
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)
|
rs137854556
|
0.00001
|
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)
|
rs760703505
|
0.00001
|
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)
|
rs797045139
|
0.00001
|
NM_001042492.3(NF1):c.5509G>A (p.Asp1837Asn)
|
rs771597781
|
0.00001
|
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)
|
rs397514641
|
0.00001
|
NM_001042492.3(NF1):c.6704+1G>T
|
rs1060500376
|
0.00001
|
NM_001042492.3(NF1):c.6855C>G (p.Tyr2285Ter)
|
rs772295894
|
0.00001
|
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs)
|
rs1555610903
|
|
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro)
|
rs137854563
|
|
NM_001042492.3(NF1):c.1237T>C (p.Ser413Pro)
|
rs1555611093
|
|
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter)
|
rs764079291
|
|
NM_001042492.3(NF1):c.1392+1G>A
|
rs267604791
|
|
NM_001042492.3(NF1):c.1527+5G>A
|
rs1060500352
|
|
NM_001042492.3(NF1):c.1540C>T (p.Gln514Ter)
|
rs1316926587
|
|
NM_001042492.3(NF1):c.1541del (p.Gln514fs)
|
rs1555612815
|
|
NM_001042492.3(NF1):c.1607C>A (p.Ser536Ter)
|
rs1555612859
|
|
NM_001042492.3(NF1):c.1642-1G>A
|
rs1555613185
|
|
NM_001042492.3(NF1):c.1642-8A>G
|
rs267606602
|
|
NM_001042492.3(NF1):c.1658A>G (p.His553Arg)
|
rs1064794274
|
|
NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn)
|
rs1555613206
|
|
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg)
|
rs199474760
|
|
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)
|
rs786202782
|
|
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)
|
rs199474738
|
|
NM_001042492.3(NF1):c.2002-1G>A
|
rs1555613743
|
|
NM_001042492.3(NF1):c.2033dup (p.Ile679fs)
|
rs587781807
|
|
NM_001042492.3(NF1):c.204+1G>A
|
rs886039548
|
|
NM_001042492.3(NF1):c.205-1G>C
|
rs1555605362
|
|
NM_001042492.3(NF1):c.2252-2A>C
|
rs1131691105
|
|
NM_001042492.3(NF1):c.2325+1G>A
|
rs1555613933
|
|
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg)
|
rs199474746
|
|
NM_001042492.3(NF1):c.2356C>T (p.Gln786Ter)
|
rs1555613999
|
|
NM_001042492.3(NF1):c.2409+1G>C
|
rs1555614022
|
|
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)
|
rs886041347
|
|
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe)
|
rs199474729
|
|
NM_001042492.3(NF1):c.246_247del (p.Gln83fs)
|
rs771115661
|
|
NM_001042492.3(NF1):c.2533T>C (p.Cys845Arg)
|
rs1060500254
|
|
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)
|
rs199474747
|
|
NM_001042492.3(NF1):c.2786T>C (p.Leu929Pro)
|
rs1555614338
|
|
NM_001042492.3(NF1):c.2850+1G>A
|
rs1131691122
|
|
NM_001042492.3(NF1):c.2887C>T (p.Gln963Ter)
|
rs876660444
|
|
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)
|
rs267606606
|
|
NM_001042492.3(NF1):c.3046T>C (p.Cys1016Arg)
|
rs878853880
|
|
NM_001042492.3(NF1):c.3197+1G>A
|
rs1555614653
|
|
NM_001042492.3(NF1):c.3198-2A>G
|
rs1131691089
|
|
NM_001042492.3(NF1):c.3447G>A (p.Met1149Ile)
|
rs1064794277
|
|
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs)
|
rs1321848637
|
|
NM_001042492.3(NF1):c.3525_3526del (p.Arg1176fs)
|
rs1131691092
|
|
NM_001042492.3(NF1):c.3686del (p.Asn1229fs)
|
rs1555615103
|
|
NM_001042492.3(NF1):c.3822_3823del (p.Phe1275fs)
|
rs1555615472
|
|
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)
|
rs199474742
|
|
NM_001042492.3(NF1):c.3827G>C (p.Arg1276Pro)
|
rs137854556
|
|
NM_001042492.3(NF1):c.3911del (p.Leu1304fs)
|
rs1555615549
|
|
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)
|
rs376576925
|
|
NM_001042492.3(NF1):c.4076del (p.Pro1359fs)
|
rs1135402852
|
|
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter)
|
rs137854560
|
|
NM_001042492.3(NF1):c.4306G>T (p.Glu1436Ter)
|
rs876660428
|
|
NM_001042492.3(NF1):c.4333-2A>G
|
rs1555618634
|
|
NM_001042492.3(NF1):c.4340A>C (p.Gln1447Pro)
|
rs786204157
|
|
NM_001042492.3(NF1):c.4352A>C (p.Asn1451Thr)
|
rs199474754
|
|
NM_001042492.3(NF1):c.4586A>G (p.Lys1529Arg)
|
rs1555619001
|
|
NM_001042492.3(NF1):c.4635C>G (p.Tyr1545Ter)
|
rs754023358
|
|
NM_001042492.3(NF1):c.4677G>A (p.Trp1559Ter)
|
rs137854555
|
|
NM_001042492.3(NF1):c.4783del (p.Gln1595fs)
|
rs1555619404
|
|
NM_001042492.3(NF1):c.4835+1G>A
|
rs1085307819
|
|
NM_001042492.3(NF1):c.484C>T (p.Gln162Ter)
|
rs1555607073
|
|
NM_001042492.3(NF1):c.496_497del (p.Val166fs)
|
rs1135402788
|
|
NM_001042492.3(NF1):c.4977_4980del (p.Lys1661fs)
|
rs1085307459
|
|
NM_001042492.3(NF1):c.499_502del (p.Cys167fs)
|
rs786201874
|
|
NM_001042492.3(NF1):c.5269-2A>G
|
rs1555533548
|
|
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter)
|
rs876657714
|
|
NM_001042492.3(NF1):c.5492G>A (p.Trp1831Ter)
|
rs1135402872
|
|
NM_001042492.3(NF1):c.5548_5549del (p.Val1850fs)
|
rs1555533636
|
|
NM_001042492.3(NF1):c.55G>T (p.Glu19Ter)
|
rs786203307
|
|
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln)
|
rs786202112
|
|
NM_001042492.3(NF1):c.5676dup (p.Leu1893fs)
|
rs1475358670
|
|
NM_001042492.3(NF1):c.5812+2T>C
|
rs1555533887
|
|
NM_001042492.3(NF1):c.586+1G>A
|
rs1555607126
|
|
NM_001042492.3(NF1):c.6007-2A>G
|
rs1555534595
|
|
NM_001042492.3(NF1):c.6007-5A>G
|
rs267606604
|
|
NM_001042492.3(NF1):c.6147+1G>A
|
rs1060500296
|
|
NM_001042492.3(NF1):c.6642+1G>T
|
rs1060500345
|
|
NM_001042492.3(NF1):c.667T>C (p.Trp223Arg)
|
rs1555608740
|
|
NM_001042492.3(NF1):c.6704+2T>G
|
rs1555534928
|
|
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter)
|
rs876658541
|
|
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)
|
rs772295894
|
|
NM_001042492.3(NF1):c.6921+1G>T
|
rs1060500355
|
|
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])
|
rs864622639
|
|
NM_001042492.3(NF1):c.7330dup (p.Thr2444fs)
|
rs1064794278
|
|
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)
|
rs866445127
|
|
NM_001042492.3(NF1):c.7701dup (p.Lys2568fs)
|
rs1060500295
|
|
NM_001042492.3(NF1):c.7760C>G (p.Ser2587Ter)
|
rs1131691090
|
|
NM_001042492.3(NF1):c.7906C>T (p.Gln2636Ter)
|
rs567988442
|
|
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)
|
rs786201367
|
|
NM_001042492.3(NF1):c.888+1G>A
|
rs1135402799
|
|
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter)
|
rs786203950
|
|
NM_001042492.3(NF1):c.943C>T (p.Gln315Ter)
|
rs766011053
|
|
NM_001042492.3(NF1):c.980T>C (p.Leu327Pro)
|
rs201624827
|
|
NM_001042492.3(NF1):c.983_984del (p.Leu327_Cys328insTer)
|
rs1555610893
|
|
NM_001042492.3(NF1):c.989C>T (p.Ala330Val)
|
rs1555610898
|
|