NM_001042492.3(NF1):c.6007-179A>C
|
rs10853138
|
0.89083
|
NM_001042492.3(NF1):c.7189+37C>G
|
rs7405740
|
0.88082
|
NM_001042492.3(NF1):c.61-300C>T
|
rs2269856
|
0.70514
|
NM_001042492.3(NF1):c.5268+23T>C
|
rs9894648
|
0.65316
|
NM_001042492.3(NF1):c.1393-130A>T
|
rs2905875
|
0.65251
|
NM_001042492.3(NF1):c.1260+1847A>C
|
rs1013946
|
0.57226
|
NM_001042492.3(NF1):c.702G>A (p.Leu234=)
|
rs1801052
|
0.56607
|
NM_001042492.3(NF1):c.1260+1859C>T
|
rs1013947
|
0.56493
|
NM_001042492.3(NF1):c.61-123G>A
|
rs2269855
|
0.56475
|
NM_001042492.3(NF1):c.288+41G>A
|
rs2952976
|
0.56461
|
NM_001042492.3(NF1):c.888+118G>T
|
rs2952999
|
0.56131
|
NM_001042492.3(NF1):c.888+108C>T
|
rs2953000
|
0.54585
|
NM_001042492.3(NF1):c.480-90C>T
|
rs2905807
|
0.54458
|
NM_001042492.3(NF1):c.1722-321G>A
|
rs2905883
|
0.53475
|
NM_001042492.3(NF1):c.1641+39T>C
|
rs2905880
|
0.52895
|
NM_001042492.3(NF1):c.1393-32T>C
|
rs2905876
|
0.52881
|
NM_001042492.3(NF1):c.6148-28T>A
|
rs7406039
|
0.52859
|
NM_001042492.3(NF1):c.1392+482A>G
|
rs2285812
|
0.52654
|
NM_001042492.3(NF1):c.6148-29T>A
|
rs7406038
|
0.51122
|
NM_001042492.3(NF1):c.5609+117G>A
|
rs3815154
|
0.49906
|
NM_001042492.3(NF1):c.5609+19T>A
|
rs2285894
|
0.49901
|
NM_001042492.3(NF1):c.7458-29G>A
|
rs964288
|
0.49344
|
NM_001042492.3(NF1):c.7190-167T>A
|
rs2525569
|
0.49108
|
NM_001042492.3(NF1):c.3197+139T>C
|
rs2071009
|
0.47230
|
NM_001042492.3(NF1):c.3315-130G>C
|
rs2072131
|
0.47015
|
NM_001042492.3(NF1):c.7970+166C>T
|
rs7350943
|
0.46803
|
NM_001042492.3(NF1):c.4110+1111G>A
|
rs7220483
|
0.45809
|
NM_001042492.3(NF1):c.5813-516G>T
|
rs10445402
|
0.44862
|
NM_001042492.3(NF1):c.4836-307A>G
|
rs2525564
|
0.44736
|
NM_001042492.3(NF1):c.2034G>A (p.Pro678=)
|
rs2285892
|
0.42930
|
NM_001042492.3(NF1):c.3496+33C>A
|
rs2066736
|
0.40732
|
NM_001042492.3(NF1):c.3974+46_3974+47insG
|
rs56874702
|
0.24652
|
NM_001042492.3(NF1):c.7971-348A>G
|
rs3815156
|
0.16470
|
NM_001042492.3(NF1):c.6642+45T>A
|
rs17883614
|
0.12771
|
NM_001042492.3(NF1):c.4835+193T>C
|
rs7221954
|
0.11827
|
NM_001042492.3(NF1):c.888+263C>T
|
rs17885309
|
0.08502
|
NM_001042492.3(NF1):c.60+9020G>A
|
rs9899063
|
0.06359
|
NM_001042492.3(NF1):c.479+208C>T
|
rs7208054
|
0.05951
|
NM_001042492.3(NF1):c.1527+1126G>T
|
rs9914217
|
0.05914
|
NM_001042492.3(NF1):c.4431-46G>C
|
rs17881285
|
0.05624
|
NM_001042492.3(NF1):c.3197+287G>A
|
rs17884401
|
0.05474
|
NM_001042492.3(NF1):c.6148-29_6148-28insA
|
rs66638017
|
0.03789
|
NM_001042492.3(NF1):c.3975-199A>G
|
rs17878249
|
0.03532
|
NM_001042492.3(NF1):c.1642-158A>G
|
rs17883230
|
0.03087
|
NM_001042492.3(NF1):c.5813-1991C>T
|
rs573869460
|
0.02962
|
NM_001042492.3(NF1):c.1260+59G>A
|
rs17885375
|
0.02927
|
NM_001042492.3(NF1):c.5813-1075G>A
|
rs17883655
|
0.02773
|
NM_001042492.3(NF1):c.1393-339A>G
|
rs17883002
|
0.02616
|
NM_001042492.3(NF1):c.2544G>A (p.Gly848=)
|
rs17883704
|
0.02535
|
NM_001042492.3(NF1):c.889-192G>T
|
rs548990878
|
0.02500
|
NM_001042492.3(NF1):c.4882T>C (p.Leu1628=)
|
rs10512435
|
0.02270
|
NM_001042492.3(NF1):c.8377+164_8377+167dup
|
rs139384924
|
0.02254
|
NM_001042492.3(NF1):c.4111-1705C>T
|
rs112855251
|
0.02066
|
NM_001042492.3(NF1):c.8378-215T>A
|
rs17879205
|
0.02058
|
NM_001042492.3(NF1):c.2001+198G>A
|
rs17880276
|
0.02035
|
NM_001042492.3(NF1):c.7063-327dup
|
rs150011423
|
0.01973
|
NM_001042492.3(NF1):c.7971-19G>T
|
rs17887156
|
0.01950
|
NM_001042492.3(NF1):c.5813-702A>C
|
rs17885110
|
0.01946
|
NM_001042492.3(NF1):c.2851-16T>C
|
rs17880825
|
0.01543
|
NM_001042492.3(NF1):c.1527+1314T>A
|
rs57254992
|
0.01529
|
NM_001042492.3(NF1):c.4929G>A (p.Val1643=)
|
rs17880521
|
0.01527
|
NM_001042492.3(NF1):c.5268+157A>T
|
rs17882251
|
0.01446
|
NM_001042492.3(NF1):c.7971-194A>G
|
rs17887204
|
0.01425
|
NM_001042492.3(NF1):c.8113+20G>A
|
rs55747230
|
0.01406
|
NM_001042492.3(NF1):c.168C>T (p.Ser56=)
|
rs17881168
|
0.01374
|
NM_001042492.3(NF1):c.730+114T>C
|
rs17883893
|
0.01233
|
NM_001042492.3(NF1):c.1062+187C>T
|
rs9895444
|
0.01154
|
NM_001042492.3(NF1):c.3974+38T>G
|
rs9894862
|
0.01144
|
NM_001042492.3(NF1):c.1260+1344G>A
|
rs17881436
|
0.01080
|
NM_001042492.3(NF1):c.7755C>T (p.Ser2585=)
|
rs17881980
|
0.01075
|
NM_001042492.3(NF1):c.3974+568G>A
|
rs150162613
|
0.01024
|
NM_001042492.3(NF1):c.7190-314T>C
|
rs116598422
|
0.01017
|
NM_001042492.3(NF1):c.1845+13A>T
|
rs17885739
|
0.01016
|
NM_001042492.3(NF1):c.3974+331T>C
|
rs75182112
|
0.01013
|
NM_001042492.3(NF1):c.6921+117A>G
|
rs17881963
|
0.00981
|
NM_001042492.3(NF1):c.586+251A>G
|
rs17883876
|
0.00977
|
NM_001042492.3(NF1):c.6007-286A>G
|
rs17886203
|
0.00975
|
NM_001042492.3(NF1):c.1642-659T>C
|
rs112782539
|
0.00923
|
NM_001042492.3(NF1):c.61-243T>G
|
rs17879769
|
0.00923
|
NM_001042492.3(NF1):c.4174-287G>A
|
rs111911700
|
0.00917
|
NM_001042492.3(NF1):c.4174-264T>C
|
rs113857757
|
0.00916
|
NM_001042492.3(NF1):c.2022C>T (p.Ser674=)
|
rs2230851
|
0.00908
|
NM_001042492.3(NF1):c.3197+505C>T
|
rs17883940
|
0.00881
|
NM_001042492.3(NF1):c.1846-178A>C
|
rs17880727
|
0.00849
|
NM_001042492.3(NF1):c.731-114A>G
|
rs17879717
|
0.00848
|
NM_001042492.3(NF1):c.1846-527C>A
|
rs17883744
|
0.00847
|
NM_001042492.3(NF1):c.2251+203G>T
|
rs17884438
|
0.00847
|
NM_001042492.3(NF1):c.4835+36T>C
|
rs16972128
|
0.00844
|
NM_001042492.3(NF1):c.*498T>G
|
rs9900729
|
0.00833
|
NM_001042492.3(NF1):c.5812+110T>G
|
rs9899132
|
0.00825
|
NM_001042492.3(NF1):c.1063-205G>A
|
rs9893929
|
0.00823
|
NM_001042492.3(NF1):c.3974+528C>A
|
rs17883138
|
0.00815
|
NM_001042492.3(NF1):c.730+80A>G
|
rs116438514
|
0.00798
|
NM_001042492.3(NF1):c.1641+297C>T
|
rs17886102
|
0.00747
|
NM_001042492.3(NF1):c.2991-97T>C
|
rs17886161
|
0.00746
|
NM_001042492.3(NF1):c.7322-17C>T
|
rs17884859
|
0.00744
|
NM_001042492.3(NF1):c.60+217C>T
|
rs17878824
|
0.00737
|
NM_001042492.3(NF1):c.3496+19T>C
|
rs9890283
|
0.00673
|
NM_001042492.3(NF1):c.6393C>T (p.His2131=)
|
rs17881788
|
0.00655
|
NM_001042492.3(NF1):c.3114-122C>T
|
rs143114688
|
0.00508
|
NM_001042492.3(NF1):c.731-301T>A
|
rs115844987
|
0.00508
|
NM_001042492.3(NF1):c.3198-3C>T
|
rs777759972
|
0.00502
|
NM_001042492.3(NF1):c.3198-289A>G
|
rs139288440
|
0.00498
|
NM_001042492.3(NF1):c.5269-265T>C
|
rs143925431
|
0.00494
|
NM_001042492.3(NF1):c.7615+271C>T
|
rs149020953
|
0.00494
|
NM_001042492.3(NF1):c.7063-254G>A
|
rs17879356
|
0.00493
|
NM_001042492.3(NF1):c.731-169A>G
|
rs115245511
|
0.00485
|
NM_001042492.3(NF1):c.3975-286T>C
|
rs17881113
|
0.00481
|
NM_001042492.3(NF1):c.4577+188A>G
|
rs17881906
|
0.00480
|
NM_001042492.3(NF1):c.6148-28_6148-27insTA
|
rs553817239
|
0.00477
|
NM_001042492.3(NF1):c.8161-255G>T
|
rs114218147
|
0.00460
|
NM_001042492.3(NF1):c.5813-728C>T
|
rs146532029
|
0.00458
|
NM_001042492.3(NF1):c.1642-666T>A
|
rs148703973
|
0.00444
|
NM_001042492.3(NF1):c.2985G>C (p.Leu995=)
|
rs17881467
|
0.00426
|
NM_001042492.3(NF1):c.7738+46G>A
|
rs199641099
|
0.00422
|
NM_001042492.3(NF1):c.5269-331G>A
|
rs17879457
|
0.00419
|
NM_001042492.3(NF1):c.4430+72C>T
|
rs112394672
|
0.00418
|
NM_001042492.3(NF1):c.4110+681_4110+693del
|
rs17883128
|
0.00414
|
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)
|
rs112306990
|
0.00398
|
NM_001042492.3(NF1):c.1393-441C>A
|
rs17883479
|
0.00397
|
NM_001042492.3(NF1):c.1527+241A>G
|
rs17880463
|
0.00396
|
NM_001042492.3(NF1):c.289-2005_289-2004del
|
rs17878965
|
0.00396
|
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=)
|
rs2066733
|
0.00392
|
NM_001042492.3(NF1):c.3198-4T>C
|
rs587782218
|
0.00387
|
NM_001042492.3(NF1):c.5812+438G>A
|
rs17886526
|
0.00385
|
NM_001042492.3(NF1):c.587-272G>C
|
rs17885753
|
0.00385
|
NM_001042492.3(NF1):c.60+8870T>C
|
rs17880155
|
0.00384
|
NM_001042492.3(NF1):c.6006+148C>T
|
rs112043107
|
0.00374
|
NM_001042492.3(NF1):c.289-1886A>G
|
rs138085037
|
0.00371
|
NM_001042492.3(NF1):c.1527+1465G>T
|
rs143943885
|
0.00362
|
NM_001042492.3(NF1):c.1063-122T>G
|
rs147289813
|
0.00361
|
NM_001042492.3(NF1):c.2252-31A>T
|
rs141082540
|
0.00355
|
NM_001042492.3(NF1):c.1063-131G>A
|
rs143918374
|
0.00354
|
NM_001042492.3(NF1):c.4577+12C>T
|
rs17878332
|
0.00352
|
NM_001042492.3(NF1):c.6148-30T>A
|
rs199874130
|
0.00348
|
NM_001042492.3(NF1):c.289-2042T>C
|
rs555366289
|
0.00341
|
NM_001042492.3(NF1):c.1393-260T>C
|
rs143696914
|
0.00338
|
NM_001042492.3(NF1):c.1527+238C>T
|
rs116149910
|
0.00336
|
NM_001042492.3(NF1):c.61-7155A>G
|
rs180735605
|
0.00316
|
NM_001042492.3(NF1):c.340C>T (p.Leu114=)
|
rs7207410
|
0.00309
|
NM_001042492.3(NF1):c.1393-162T>G
|
rs138351811
|
0.00306
|
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=)
|
rs17887014
|
0.00305
|
NM_001042492.3(NF1):c.586+273A>G
|
rs138239023
|
0.00296
|
NM_001042492.3(NF1):c.6427+32A>G
|
rs17880702
|
0.00291
|
NM_001042492.3(NF1):c.1260+1334T>C
|
rs189252413
|
0.00283
|
NM_001042492.3(NF1):c.1528-343C>T
|
rs576781190
|
0.00272
|
NM_001042492.3(NF1):c.655-29T>C
|
rs182325576
|
0.00240
|
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=)
|
rs17886566
|
0.00238
|
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe)
|
rs145891889
|
0.00220
|
NM_001042492.3(NF1):c.3974+40T>G
|
rs760137326
|
0.00204
|
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val)
|
rs147327414
|
0.00195
|
NM_001042492.3(NF1):c.888+647C>G
|
rs185500742
|
0.00193
|
NM_001042492.3(NF1):c.2553C>T (p.Cys851=)
|
rs2230852
|
0.00190
|
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu)
|
rs2230850
|
0.00189
|
NM_001042492.3(NF1):c.*126G>A
|
rs184715593
|
0.00185
|
NM_001042492.3(NF1):c.*582T>G
|
rs532984264
|
0.00169
|
NM_001042492.3(NF1):c.8113+49C>T
|
rs114915525
|
0.00160
|
NM_001042492.3(NF1):c.846G>A (p.Gln282=)
|
rs138840528
|
0.00149
|
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=)
|
rs55865524
|
0.00127
|
NM_001042492.3(NF1):c.1846-12A>T
|
rs188510882
|
0.00124
|
NM_001042492.3(NF1):c.4577+11C>G
|
rs190614908
|
0.00124
|
NM_001042492.3(NF1):c.1810T>C (p.Leu604=)
|
rs142712751
|
0.00123
|
NM_001042492.3(NF1):c.*1899A>G
|
rs547663480
|
0.00100
|
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=)
|
rs138186428
|
0.00089
|
NM_001042492.3(NF1):c.8114-70A>T
|
rs192112633
|
0.00088
|
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=)
|
rs147955381
|
0.00083
|
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=)
|
rs150015024
|
0.00079
|
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val)
|
rs148154172
|
0.00066
|
NM_001042492.3(NF1):c.6921+40A>G
|
rs188244160
|
0.00065
|
NM_001042492.3(NF1):c.7410T>C (p.Asn2470=)
|
rs17881903
|
0.00059
|
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu)
|
rs17881753
|
0.00058
|
NM_001042492.3(NF1):c.6379A>G (p.Ile2127Val)
|
rs200022550
|
0.00053
|
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=)
|
rs149924365
|
0.00052
|
NM_001042492.3(NF1):c.3871-31A>G
|
rs2301808
|
0.00051
|
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=)
|
rs2285895
|
0.00050
|
NM_001042492.3(NF1):c.888+664T>G
|
rs139513375
|
0.00049
|
NM_001042492.3(NF1):c.731-6A>C
|
rs369366499
|
0.00037
|
NM_001042492.3(NF1):c.7062+201_7062+202insA
|
rs2069802472
|
0.00036
|
NM_001042492.3(NF1):c.1933A>G (p.Met645Val)
|
rs146051850
|
0.00032
|
NM_001042492.3(NF1):c.4851A>G (p.Gln1617=)
|
rs150309802
|
0.00032
|
NM_001042492.3(NF1):c.1137C>T (p.Cys379=)
|
rs139648455
|
0.00031
|
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val)
|
rs146315101
|
0.00031
|
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu)
|
rs143502927
|
0.00029
|
NM_001042492.3(NF1):c.7322-16A>G
|
rs369168102
|
0.00029
|
NM_001042492.3(NF1):c.*871A>T
|
rs568276164
|
0.00028
|
NM_001042492.3(NF1):c.5883G>A (p.Lys1961=)
|
rs144808600
|
0.00026
|
NM_001042492.3(NF1):c.7554C>G (p.Ala2518=)
|
rs141897690
|
0.00026
|
NM_001042492.3(NF1):c.369C>G (p.Thr123=)
|
rs146691765
|
0.00024
|
NM_001042492.3(NF1):c.7998C>T (p.Asn2666=)
|
rs747307832
|
0.00024
|
NM_001042492.3(NF1):c.1062+113A>G
|
rs868553650
|
0.00021
|
NM_001042492.3(NF1):c.5269-9A>G
|
rs544515671
|
0.00021
|
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=)
|
rs142636150
|
0.00020
|
NM_001042492.3(NF1):c.1032A>G (p.Leu344=)
|
rs199832006
|
0.00019
|
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=)
|
rs144091165
|
0.00019
|
NM_001042492.3(NF1):c.3672G>A (p.Ala1224=)
|
rs151293900
|
0.00018
|
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val)
|
rs201712827
|
0.00017
|
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser)
|
rs199966218
|
0.00015
|
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)
|
rs201047812
|
0.00015
|
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu)
|
rs148736217
|
0.00015
|
NM_001042492.3(NF1):c.2133C>T (p.Arg711=)
|
rs148085908
|
0.00014
|
NM_001042492.3(NF1):c.3871-15C>T
|
rs200104394
|
0.00014
|
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=)
|
rs201287021
|
0.00014
|
NM_001042492.3(NF1):c.1599C>G (p.Val533=)
|
rs369458366
|
0.00013
|
NM_001042492.3(NF1):c.2002-9G>T
|
rs376197466
|
0.00013
|
NM_001042492.3(NF1):c.2032C>G (p.Pro678Ala)
|
rs758691069
|
0.00013
|
NM_001042492.3(NF1):c.2838C>T (p.Asp946=)
|
rs147188807
|
0.00013
|
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=)
|
rs371581213
|
0.00013
|
NM_001042492.3(NF1):c.2191C>T (p.Leu731Phe)
|
rs185204667
|
0.00012
|
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=)
|
rs140994965
|
0.00012
|
NM_001042492.3(NF1):c.5322G>A (p.Gly1774=)
|
rs201584313
|
0.00012
|
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys)
|
rs377662483
|
0.00011
|
NM_001042492.3(NF1):c.2178G>C (p.Val726=)
|
rs369590240
|
0.00010
|
NM_001042492.3(NF1):c.2252-34T>C
|
rs200937398
|
0.00010
|
NM_001042492.3(NF1):c.2541T>C (p.Leu847=)
|
rs147433258
|
0.00010
|
NM_001042492.3(NF1):c.2325+16C>G
|
rs371709563
|
0.00009
|
NM_001042492.3(NF1):c.4724+11A>G
|
rs368649260
|
0.00009
|
NM_001042492.3(NF1):c.4836-3T>C
|
rs372460369
|
0.00009
|
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)
|
rs368654378
|
0.00009
|
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=)
|
rs141077224
|
0.00009
|
NM_001042492.3(NF1):c.7322-14C>T
|
rs377244887
|
0.00009
|
NM_001042492.3(NF1):c.2238T>C (p.Asn746=)
|
rs768161162
|
0.00008
|
NM_001042492.3(NF1):c.5497C>T (p.Leu1833=)
|
rs372932380
|
0.00008
|
NM_001042492.3(NF1):c.6171A>T (p.Ile2057=)
|
rs140733963
|
0.00008
|
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe)
|
rs201824349
|
0.00008
|
NM_001042492.3(NF1):c.8377+1659C>T
|
rs572658615
|
0.00008
|
NM_001042492.3(NF1):c.1528-10T>C
|
rs376174484
|
0.00007
|
NM_001042492.3(NF1):c.3636C>A (p.Val1212=)
|
rs145126193
|
0.00007
|
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile)
|
rs376655102
|
0.00007
|
NM_001042492.3(NF1):c.*1A>C
|
rs876658388
|
0.00006
|
NM_001042492.3(NF1):c.3217A>G (p.Met1073Val)
|
rs199474740
|
0.00006
|
NM_001042492.3(NF1):c.393A>C (p.Ala131=)
|
rs761086521
|
0.00006
|
NM_001042492.3(NF1):c.4526G>A (p.Arg1509His)
|
rs546073780
|
0.00006
|
NM_001042492.3(NF1):c.5961G>A (p.Gln1987=)
|
rs757536610
|
0.00006
|
NM_001042492.3(NF1):c.6033A>G (p.Leu2011=)
|
rs147995863
|
0.00006
|
NM_001042492.3(NF1):c.6375G>A (p.Leu2125=)
|
rs773467465
|
0.00006
|
NM_001042492.3(NF1):c.7006G>A (p.Ala2336Thr)
|
rs587781428
|
0.00006
|
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile)
|
rs149055633
|
0.00006
|
NM_001042492.3(NF1):c.7870-8C>A
|
rs372441422
|
0.00006
|
NM_001042492.3(NF1):c.8395G>A (p.Val2799Ile)
|
rs377393842
|
0.00006
|
NM_001042492.3(NF1):c.1166A>G (p.His389Arg)
|
rs149739570
|
0.00005
|
NM_001042492.3(NF1):c.1588G>A (p.Val530Ile)
|
rs145191978
|
0.00005
|
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser)
|
rs370789267
|
0.00005
|
NM_001042492.3(NF1):c.2188A>T (p.Asn730Tyr)
|
rs758893131
|
0.00005
|
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser)
|
rs138227618
|
0.00005
|
NM_001042492.3(NF1):c.4263G>A (p.Pro1421=)
|
rs201648604
|
0.00005
|
NM_001042492.3(NF1):c.61-16301G>A
|
rs1251741983
|
0.00005
|
NM_001042492.3(NF1):c.6315C>T (p.His2105=)
|
rs145732909
|
0.00005
|
NM_001042492.3(NF1):c.6528T>C (p.Ile2176=)
|
rs147522129
|
0.00005
|
NM_001042492.3(NF1):c.181A>G (p.Ile61Val)
|
rs754295034
|
0.00004
|
NM_001042492.3(NF1):c.231A>T (p.Lys77Asn)
|
rs373563053
|
0.00004
|
NM_001042492.3(NF1):c.2991-4A>G
|
rs754414489
|
0.00004
|
NM_001042492.3(NF1):c.3114-4A>G
|
rs201550230
|
0.00004
|
NM_001042492.3(NF1):c.3371G>A (p.Ser1124Asn)
|
rs374472758
|
0.00004
|
NM_001042492.3(NF1):c.3484A>G (p.Met1162Val)
|
rs773968270
|
0.00004
|
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)
|
rs143836226
|
0.00004
|
NM_001042492.3(NF1):c.3947A>G (p.His1316Arg)
|
rs751023085
|
0.00004
|
NM_001042492.3(NF1):c.4111-4G>A
|
rs764877783
|
0.00004
|
NM_001042492.3(NF1):c.4445T>C (p.Ile1482Thr)
|
rs746994734
|
0.00004
|
NM_001042492.3(NF1):c.5255A>G (p.Lys1752Arg)
|
rs864622373
|
0.00004
|
NM_001042492.3(NF1):c.5257G>A (p.Val1753Ile)
|
rs148540952
|
0.00004
|
NM_001042492.3(NF1):c.5793T>C (p.Ile1931=)
|
rs779114598
|
0.00004
|
NM_001042492.3(NF1):c.5925T>C (p.Leu1975=)
|
rs375776474
|
0.00004
|
NM_001042492.3(NF1):c.6360T>C (p.Ala2120=)
|
rs371578074
|
0.00004
|
NM_001042492.3(NF1):c.6428-3C>T
|
rs374014162
|
0.00004
|
NM_001042492.3(NF1):c.6628T>C (p.Leu2210=)
|
rs138265293
|
0.00004
|
NM_001042492.3(NF1):c.6643-13T>C
|
rs764601493
|
0.00004
|
NM_001042492.3(NF1):c.6664A>G (p.Thr2222Ala)
|
rs745945481
|
0.00004
|
NM_001042492.3(NF1):c.7046G>A (p.Arg2349His)
|
rs864622065
|
0.00004
|
NM_001042492.3(NF1):c.7739-12A>G
|
rs778057828
|
0.00004
|
NM_001042492.3(NF1):c.7881A>G (p.Val2627=)
|
rs756880349
|
0.00004
|
NM_001042492.3(NF1):c.8490C>A (p.Phe2830Leu)
|
rs760550772
|
0.00004
|
NM_001042492.3(NF1):c.898C>T (p.Leu300=)
|
rs786201926
|
0.00004
|
NM_001042492.3(NF1):c.*4T>C
|
rs201044568
|
0.00003
|
NM_001042492.3(NF1):c.1182T>C (p.Phe394=)
|
rs786202581
|
0.00003
|
NM_001042492.3(NF1):c.1296G>A (p.Val432=)
|
rs371599283
|
0.00003
|
NM_001042492.3(NF1):c.129A>C (p.Leu43=)
|
rs759576680
|
0.00003
|
NM_001042492.3(NF1):c.1308G>A (p.Ser436=)
|
rs765425127
|
0.00003
|
NM_001042492.3(NF1):c.134A>G (p.Asn45Ser)
|
rs753189381
|
0.00003
|
NM_001042492.3(NF1):c.1548C>G (p.Pro516=)
|
rs768883989
|
0.00003
|
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser)
|
rs779727341
|
0.00003
|
NM_001042492.3(NF1):c.1975C>T (p.Arg659Trp)
|
rs757512142
|
0.00003
|
NM_001042492.3(NF1):c.2570A>G (p.Asn857Ser)
|
rs1060500299
|
0.00003
|
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser)
|
rs200302954
|
0.00003
|
NM_001042492.3(NF1):c.2747A>G (p.Asn916Ser)
|
rs765043916
|
0.00003
|
NM_001042492.3(NF1):c.2821A>G (p.Ile941Val)
|
rs876659888
|
0.00003
|
NM_001042492.3(NF1):c.3315-8T>C
|
rs764783865
|
0.00003
|
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser)
|
rs146641724
|
0.00003
|
NM_001042492.3(NF1):c.4362C>T (p.Leu1454=)
|
rs864622298
|
0.00003
|
NM_001042492.3(NF1):c.456A>G (p.Ala152=)
|
rs377481833
|
0.00003
|
NM_001042492.3(NF1):c.4835+5G>C
|
rs786201306
|
0.00003
|
NM_001042492.3(NF1):c.4942A>G (p.Thr1648Ala)
|
rs770558820
|
0.00003
|
NM_001042492.3(NF1):c.587-11G>T
|
rs1471659235
|
0.00003
|
NM_001042492.3(NF1):c.5910A>G (p.Arg1970=)
|
rs777021090
|
0.00003
|
NM_001042492.3(NF1):c.6642+4T>C
|
rs587781687
|
0.00003
|
NM_001042492.3(NF1):c.6643-19A>G
|
rs544476647
|
0.00003
|
NM_001042492.3(NF1):c.67A>G (p.Ile23Val)
|
rs542824372
|
0.00003
|
NM_001042492.3(NF1):c.696A>G (p.Thr232=)
|
rs368691517
|
0.00003
|
NM_001042492.3(NF1):c.7003A>G (p.Thr2335Ala)
|
rs370209920
|
0.00003
|
NM_001042492.3(NF1):c.7458-7C>T
|
rs758106590
|
0.00003
|
NM_001042492.3(NF1):c.7758A>C (p.Ser2586=)
|
rs876658564
|
0.00003
|
NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln)
|
rs560262404
|
0.00003
|
NM_001042492.3(NF1):c.8216T>C (p.Ile2739Thr)
|
rs752541243
|
0.00003
|
NM_001042492.3(NF1):c.8394C>T (p.Asn2798=)
|
rs376136174
|
0.00003
|
NM_001042492.3(NF1):c.8479G>T (p.Ala2827Ser)
|
rs199878086
|
0.00003
|
NM_001042492.3(NF1):c.861C>T (p.Asp287=)
|
rs749949219
|
0.00003
|
NM_001042492.3(NF1):c.105T>C (p.Ser35=)
|
rs370026303
|
0.00002
|
NM_001042492.3(NF1):c.1213A>G (p.Thr405Ala)
|
rs587782233
|
0.00002
|
NM_001042492.3(NF1):c.145T>A (p.Tyr49Asn)
|
rs764367878
|
0.00002
|
NM_001042492.3(NF1):c.1593A>G (p.Gln531=)
|
rs773712266
|
0.00002
|
NM_001042492.3(NF1):c.171C>T (p.Gly57=)
|
rs876658709
|
0.00002
|
NM_001042492.3(NF1):c.1901T>C (p.Ile634Thr)
|
rs527563505
|
0.00002
|
NM_001042492.3(NF1):c.1917T>C (p.Asn639=)
|
rs876659976
|
0.00002
|
NM_001042492.3(NF1):c.1955G>A (p.Arg652His)
|
rs587778549
|
0.00002
|
NM_001042492.3(NF1):c.2023G>A (p.Gly675Arg)
|
rs779546178
|
0.00002
|
NM_001042492.3(NF1):c.2224G>T (p.Ala742Ser)
|
rs587781896
|
0.00002
|
NM_001042492.3(NF1):c.2282C>T (p.Ala761Val)
|
rs746850653
|
0.00002
|
NM_001042492.3(NF1):c.2294G>A (p.Arg765His)
|
rs199474777
|
0.00002
|
NM_001042492.3(NF1):c.2547A>C (p.Gly849=)
|
rs748303121
|
0.00002
|
NM_001042492.3(NF1):c.2617C>T (p.Arg873Cys)
|
rs199474739
|
0.00002
|
NM_001042492.3(NF1):c.3063A>C (p.Val1021=)
|
rs768611775
|
0.00002
|
NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val)
|
rs902739109
|
0.00002
|
NM_001042492.3(NF1):c.367A>G (p.Thr123Ala)
|
rs587781757
|
0.00002
|
NM_001042492.3(NF1):c.3765A>G (p.Gln1255=)
|
rs766896025
|
0.00002
|
NM_001042492.3(NF1):c.3970A>G (p.Thr1324Ala)
|
rs189522993
|
0.00002
|
NM_001042492.3(NF1):c.4285A>G (p.Lys1429Glu)
|
rs758915600
|
0.00002
|
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)
|
rs137854550
|
0.00002
|
NM_001042492.3(NF1):c.4357G>A (p.Val1453Ile)
|
rs199474755
|
0.00002
|
NM_001042492.3(NF1):c.4657C>G (p.Pro1553Ala)
|
rs1033427343
|
0.00002
|
NM_001042492.3(NF1):c.4665A>C (p.Ala1555=)
|
rs786201457
|
0.00002
|
NM_001042492.3(NF1):c.4668T>C (p.Asp1556=)
|
rs763874870
|
0.00002
|
NM_001042492.3(NF1):c.4958G>A (p.Arg1653His)
|
rs763413441
|
0.00002
|
NM_001042492.3(NF1):c.512A>G (p.Asn171Ser)
|
rs767500770
|
0.00002
|
NM_001042492.3(NF1):c.5225A>G (p.Asn1742Ser)
|
rs745407845
|
0.00002
|
NM_001042492.3(NF1):c.5289A>G (p.Gln1763=)
|
rs199703296
|
0.00002
|
NM_001042492.3(NF1):c.529A>G (p.Ile177Val)
|
rs766213678
|
0.00002
|
NM_001042492.3(NF1):c.5423C>T (p.Thr1808Met)
|
rs760649828
|
0.00002
|
NM_001042492.3(NF1):c.5426C>T (p.Pro1809Leu)
|
rs587782220
|
0.00002
|
NM_001042492.3(NF1):c.5470A>G (p.Ile1824Val)
|
rs370858405
|
0.00002
|
NM_001042492.3(NF1):c.5574A>G (p.Ala1858=)
|
rs760561904
|
0.00002
|
NM_001042492.3(NF1):c.6264G>A (p.Leu2088=)
|
rs762751192
|
0.00002
|
NM_001042492.3(NF1):c.6624T>C (p.Ala2208=)
|
rs746061888
|
0.00002
|
NM_001042492.3(NF1):c.6819+11C>T
|
rs201213225
|
0.00002
|
NM_001042492.3(NF1):c.6851C>T (p.Thr2284Ile)
|
rs747881072
|
0.00002
|
NM_001042492.3(NF1):c.7055A>G (p.Asn2352Ser)
|
rs763082717
|
0.00002
|
NM_001042492.3(NF1):c.7457+8G>T
|
rs376147282
|
0.00002
|
NM_001042492.3(NF1):c.7484C>T (p.Ser2495Phe)
|
rs757245615
|
0.00002
|
NM_001042492.3(NF1):c.7838C>T (p.Pro2613Leu)
|
rs750972729
|
0.00002
|
NM_001042492.3(NF1):c.8073T>G (p.His2691Gln)
|
rs375468032
|
0.00002
|
NM_001042492.3(NF1):c.8139G>A (p.Arg2713=)
|
rs139527415
|
0.00002
|
NM_001042492.3(NF1):c.8385C>T (p.Asp2795=)
|
rs144635489
|
0.00002
|
NM_001042492.3(NF1):c.8456G>A (p.Ser2819Asn)
|
rs934837854
|
0.00002
|
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr)
|
rs200572531
|
0.00002
|
NM_001042492.3(NF1):c.8494C>T (p.Arg2832Cys)
|
rs587782893
|
0.00002
|
NM_001042492.3(NF1):c.1082G>C (p.Ser361Thr)
|
rs876660103
|
0.00001
|
NM_001042492.3(NF1):c.1138C>T (p.Leu380Phe)
|
rs1426127948
|
0.00001
|
NM_001042492.3(NF1):c.1170C>T (p.Asn390=)
|
rs769004910
|
0.00001
|
NM_001042492.3(NF1):c.1176A>G (p.Gln392=)
|
rs566220983
|
0.00001
|
NM_001042492.3(NF1):c.1260+1G>A
|
rs267606603
|
0.00001
|
NM_001042492.3(NF1):c.1264G>A (p.Ala422Thr)
|
rs786202145
|
0.00001
|
NM_001042492.3(NF1):c.1290T>C (p.Asp430=)
|
rs766688203
|
0.00001
|
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter)
|
rs778405030
|
0.00001
|
NM_001042492.3(NF1):c.1337C>T (p.Thr446Ile)
|
rs1389152072
|
0.00001
|
NM_001042492.3(NF1):c.1392G>A (p.Pro464=)
|
rs201604273
|
0.00001
|
NM_001042492.3(NF1):c.1444A>G (p.Thr482Ala)
|
rs770201871
|
0.00001
|
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)
|
rs137854557
|
0.00001
|
NM_001042492.3(NF1):c.1472A>G (p.Tyr491Cys)
|
rs199474757
|
0.00001
|
NM_001042492.3(NF1):c.1479C>G (p.Leu493=)
|
rs139653388
|
0.00001
|
NM_001042492.3(NF1):c.1541A>C (p.Gln514Pro)
|
rs775369084
|
0.00001
|
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs)
|
rs267606600
|
0.00001
|
NM_001042492.3(NF1):c.1549G>A (p.Glu517Lys)
|
rs587778548
|
0.00001
|
NM_001042492.3(NF1):c.1553C>T (p.Thr518Ile)
|
rs587782696
|
0.00001
|
NM_001042492.3(NF1):c.1642-12T>A
|
rs2066926774
|
0.00001
|
NM_001042492.3(NF1):c.1662G>T (p.Gln554His)
|
rs147594815
|
0.00001
|
NM_001042492.3(NF1):c.1721+1G>A
|
rs1131691096
|
0.00001
|
NM_001042492.3(NF1):c.1769T>C (p.Met590Thr)
|
rs761559887
|
0.00001
|
NM_001042492.3(NF1):c.1870T>C (p.Phe624Leu)
|
rs765060733
|
0.00001
|
NM_001042492.3(NF1):c.1875C>T (p.Leu625=)
|
rs974172157
|
0.00001
|
NM_001042492.3(NF1):c.1891G>A (p.Gly631Arg)
|
rs757424379
|
0.00001
|
NM_001042492.3(NF1):c.1900A>G (p.Ile634Val)
|
rs745906742
|
0.00001
|
NM_001042492.3(NF1):c.1921A>G (p.Ser641Gly)
|
rs769154907
|
0.00001
|
NM_001042492.3(NF1):c.1936G>T (p.Asp646Tyr)
|
rs142079728
|
0.00001
|
NM_001042492.3(NF1):c.1972C>T (p.Leu658Phe)
|
rs763901597
|
0.00001
|
NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg)
|
rs140653372
|
0.00001
|
NM_001042492.3(NF1):c.1991A>G (p.Asn664Ser)
|
rs756145065
|
0.00001
|
NM_001042492.3(NF1):c.1999A>G (p.Met667Val)
|
rs749833271
|
0.00001
|
NM_001042492.3(NF1):c.200A>G (p.Asn67Ser)
|
rs375038808
|
0.00001
|
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)
|
rs768638173
|
0.00001
|
NM_001042492.3(NF1):c.2054C>G (p.Thr685Ser)
|
rs876658190
|
0.00001
|
NM_001042492.3(NF1):c.2061A>G (p.Leu687=)
|
rs143671377
|
0.00001
|
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln)
|
rs1350468182
|
0.00001
|
NM_001042492.3(NF1):c.2189A>C (p.Asn730Thr)
|
rs778033578
|
0.00001
|
NM_001042492.3(NF1):c.2248A>G (p.Thr750Ala)
|
rs748064845
|
0.00001
|
NM_001042492.3(NF1):c.2257G>A (p.Ala753Thr)
|
rs758325102
|
0.00001
|
NM_001042492.3(NF1):c.2345C>G (p.Ala782Gly)
|
rs1203924788
|
0.00001
|
NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg)
|
rs199474730
|
0.00001
|
NM_001042492.3(NF1):c.2355A>G (p.Glu785=)
|
rs876658622
|
0.00001
|
NM_001042492.3(NF1):c.2378A>C (p.Asn793Thr)
|
rs772543826
|
0.00001
|
NM_001042492.3(NF1):c.2434A>C (p.Ile812Leu)
|
rs587781899
|
0.00001
|
NM_001042492.3(NF1):c.2476A>C (p.Ile826Leu)
|
rs767069721
|
0.00001
|
NM_001042492.3(NF1):c.2490C>T (p.Asp830=)
|
rs786201629
|
0.00001
|
NM_001042492.3(NF1):c.2510G>A (p.Trp837Ter)
|
rs1348129244
|
0.00001
|
NM_001042492.3(NF1):c.2517C>T (p.Asn839=)
|
rs876659543
|
0.00001
|
NM_001042492.3(NF1):c.2564G>C (p.Arg855Thr)
|
rs786203716
|
0.00001
|
NM_001042492.3(NF1):c.2573C>G (p.Ser858Cys)
|
rs369493270
|
0.00001
|
NM_001042492.3(NF1):c.2576G>C (p.Gly859Ala)
|
rs876659829
|
0.00001
|
NM_001042492.3(NF1):c.2581G>C (p.Ala861Pro)
|
rs768425956
|
0.00001
|
NM_001042492.3(NF1):c.2618G>A (p.Arg873His)
|
rs949092641
|
0.00001
|
NM_001042492.3(NF1):c.2619T>C (p.Arg873=)
|
rs766212733
|
0.00001
|
NM_001042492.3(NF1):c.2629A>G (p.Met877Val)
|
rs764950557
|
0.00001
|
NM_001042492.3(NF1):c.2633T>C (p.Ile878Thr)
|
rs372049168
|
0.00001
|
NM_001042492.3(NF1):c.2640G>A (p.Val880=)
|
rs786202443
|
0.00001
|
NM_001042492.3(NF1):c.2658C>T (p.Asn886=)
|
rs781549970
|
0.00001
|
NM_001042492.3(NF1):c.2659G>A (p.Ala887Thr)
|
rs1251621684
|
0.00001
|
NM_001042492.3(NF1):c.2666C>G (p.Thr889Arg)
|
rs369912079
|
0.00001
|
NM_001042492.3(NF1):c.2740C>T (p.Arg914Trp)
|
rs765848298
|
0.00001
|
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr)
|
rs199474728
|
0.00001
|
NM_001042492.3(NF1):c.2794A>G (p.Met932Val)
|
rs886052800
|
0.00001
|
NM_001042492.3(NF1):c.2825G>A (p.Ser942Asn)
|
rs1555614350
|
0.00001
|
NM_001042492.3(NF1):c.288G>T (p.Gly96=)
|
rs1430988476
|
0.00001
|
NM_001042492.3(NF1):c.289-12T>C
|
rs1486449114
|
0.00001
|
NM_001042492.3(NF1):c.2902A>G (p.Met968Val)
|
rs587781499
|
0.00001
|
NM_001042492.3(NF1):c.2971A>G (p.Met991Val)
|
rs1268543864
|
0.00001
|
NM_001042492.3(NF1):c.2991-6A>G
|
rs1191095886
|
0.00001
|
NM_001042492.3(NF1):c.2998C>T (p.Arg1000Cys)
|
rs367684252
|
0.00001
|
NM_001042492.3(NF1):c.3013A>G (p.Met1005Val)
|
rs1555614502
|
0.00001
|
NM_001042492.3(NF1):c.3038C>T (p.Thr1013Met)
|
rs786203132
|
0.00001
|
NM_001042492.3(NF1):c.3045G>A (p.Leu1015=)
|
rs926335233
|
0.00001
|
NM_001042492.3(NF1):c.304A>G (p.Met102Val)
|
rs756370324
|
0.00001
|
NM_001042492.3(NF1):c.3079G>A (p.Asp1027Asn)
|
rs774066804
|
0.00001
|
NM_001042492.3(NF1):c.3103A>G (p.Met1035Val)
|
rs771694969
|
0.00001
|
NM_001042492.3(NF1):c.3111T>C (p.Phe1037=)
|
rs200240170
|
0.00001
|
NM_001042492.3(NF1):c.3166G>A (p.Ala1056Thr)
|
rs776907522
|
0.00001
|
NM_001042492.3(NF1):c.3197+3A>G
|
rs1359512152
|
0.00001
|
NM_001042492.3(NF1):c.3285G>A (p.Leu1095=)
|
rs774759676
|
0.00001
|
NM_001042492.3(NF1):c.3303G>A (p.Gln1101=)
|
rs876659944
|
0.00001
|
NM_001042492.3(NF1):c.3352A>G (p.Ser1118Gly)
|
rs201645318
|
0.00001
|
NM_001042492.3(NF1):c.3390G>A (p.Arg1130=)
|
rs999720392
|
0.00001
|
NM_001042492.3(NF1):c.3394C>T (p.Arg1132Cys)
|
rs587781725
|
0.00001
|
NM_001042492.3(NF1):c.3395G>A (p.Arg1132His)
|
rs778920556
|
0.00001
|
NM_001042492.3(NF1):c.3469G>A (p.Val1157Ile)
|
rs375845704
|
0.00001
|
NM_001042492.3(NF1):c.3485T>G (p.Met1162Arg)
|
rs200732832
|
0.00001
|
NM_001042492.3(NF1):c.3490T>G (p.Ser1164Ala)
|
rs750303863
|
0.00001
|
NM_001042492.3(NF1):c.354C>T (p.Cys118=)
|
rs768777585
|
0.00001
|
NM_001042492.3(NF1):c.3586C>T (p.Leu1196Phe)
|
rs1555615039
|
0.00001
|
NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp)
|
rs199474732
|
0.00001
|
NM_001042492.3(NF1):c.3694C>T (p.Pro1232Ser)
|
rs1482085668
|
0.00001
|
NM_001042492.3(NF1):c.3709-2A>G
|
rs1597722374
|
0.00001
|
NM_001042492.3(NF1):c.3709-8G>C
|
rs767650263
|
0.00001
|
NM_001042492.3(NF1):c.3722G>A (p.Arg1241Gln)
|
rs543387071
|
0.00001
|
NM_001042492.3(NF1):c.3748C>T (p.Arg1250Trp)
|
rs1452005208
|
0.00001
|
NM_001042492.3(NF1):c.3749G>A (p.Arg1250Gln)
|
rs199474765
|
0.00001
|
NM_001042492.3(NF1):c.374G>A (p.Arg125His)
|
rs149003051
|
0.00001
|
NM_001042492.3(NF1):c.3811A>G (p.Met1271Val)
|
rs746583007
|
0.00001
|
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)
|
rs137854556
|
0.00001
|
NM_001042492.3(NF1):c.3843C>T (p.Ala1281=)
|
rs150426576
|
0.00001
|
NM_001042492.3(NF1):c.3871-4G>C
|
rs558421445
|
0.00001
|
NM_001042492.3(NF1):c.3906T>G (p.Asp1302Glu)
|
rs549058591
|
0.00001
|
NM_001042492.3(NF1):c.3911T>C (p.Leu1304Ser)
|
rs761512189
|
0.00001
|
NM_001042492.3(NF1):c.3916C>A (p.Arg1306=)
|
rs376576925
|
0.00001
|
NM_001042492.3(NF1):c.3989A>C (p.Glu1330Ala)
|
rs1256727206
|
0.00001
|
NM_001042492.3(NF1):c.4010G>T (p.Arg1337Leu)
|
rs1060500379
|
0.00001
|
NM_001042492.3(NF1):c.4046C>A (p.Ala1349Asp)
|
rs1229215269
|
0.00001
|
NM_001042492.3(NF1):c.404G>A (p.Arg135Gln)
|
rs1060500244
|
0.00001
|
NM_001042492.3(NF1):c.4055G>C (p.Ser1352Thr)
|
rs876660908
|
0.00001
|
NM_001042492.3(NF1):c.4098C>G (p.His1366Gln)
|
rs1555617377
|
0.00001
|
NM_001042492.3(NF1):c.4110+15dup
|
rs763846160
|
0.00001
|
NM_001042492.3(NF1):c.4110+3A>G
|
rs774669878
|
0.00001
|
NM_001042492.3(NF1):c.4120C>T (p.His1374Tyr)
|
rs764123241
|
0.00001
|
NM_001042492.3(NF1):c.4201A>T (p.Ser1401Cys)
|
rs1060500310
|
0.00001
|
NM_001042492.3(NF1):c.4206C>T (p.Ile1402=)
|
rs864622406
|
0.00001
|
NM_001042492.3(NF1):c.4230C>T (p.Phe1410=)
|
rs750213850
|
0.00001
|
NM_001042492.3(NF1):c.4252A>G (p.Ile1418Val)
|
rs369345045
|
0.00001
|
NM_001042492.3(NF1):c.4290G>A (p.Lys1430=)
|
rs373086572
|
0.00001
|
NM_001042492.3(NF1):c.4352A>G (p.Asn1451Ser)
|
rs199474754
|
0.00001
|
NM_001042492.3(NF1):c.4373A>G (p.Glu1458Gly)
|
rs878853894
|
0.00001
|
NM_001042492.3(NF1):c.4378C>G (p.His1460Asp)
|
rs377295676
|
0.00001
|
NM_001042492.3(NF1):c.4382T>C (p.Met1461Thr)
|
rs754639587
|
0.00001
|
NM_001042492.3(NF1):c.4384C>T (p.Arg1462Trp)
|
rs876658127
|
0.00001
|
NM_001042492.3(NF1):c.4385G>A (p.Arg1462Gln)
|
rs370852681
|
0.00001
|
NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn)
|
rs876660093
|
0.00001
|
NM_001042492.3(NF1):c.4421C>T (p.Ala1474Val)
|
rs587781553
|
0.00001
|
NM_001042492.3(NF1):c.4446A>G (p.Ile1482Met)
|
rs876658776
|
0.00001
|
NM_001042492.3(NF1):c.4508A>G (p.Asn1503Ser)
|
rs587781445
|
0.00001
|
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)
|
rs760703505
|
0.00001
|
NM_001042492.3(NF1):c.4682G>A (p.Ser1561Asn)
|
rs751414513
|
0.00001
|
NM_001042492.3(NF1):c.4724+3A>G
|
rs781147524
|
0.00001
|
NM_001042492.3(NF1):c.4725-13A>G
|
rs759742216
|
0.00001
|
NM_001042492.3(NF1):c.4736A>G (p.His1579Arg)
|
rs1275751975
|
0.00001
|
NM_001042492.3(NF1):c.475A>G (p.Thr159Ala)
|
rs371192107
|
0.00001
|
NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met)
|
rs185660700
|
0.00001
|
NM_001042492.3(NF1):c.479+4A>G
|
rs1567818032
|
0.00001
|
NM_001042492.3(NF1):c.4793C>A (p.Thr1598Asn)
|
rs753453385
|
0.00001
|
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val)
|
rs199474766
|
0.00001
|
NM_001042492.3(NF1):c.4835+3A>G
|
rs1417732851
|
0.00001
|
NM_001042492.3(NF1):c.4859G>A (p.Gly1620Asp)
|
rs587782213
|
0.00001
|
NM_001042492.3(NF1):c.4870A>G (p.Ile1624Val)
|
rs1555533280
|
0.00001
|
NM_001042492.3(NF1):c.4887G>A (p.Leu1629=)
|
rs368638966
|
0.00001
|
NM_001042492.3(NF1):c.4944C>T (p.Thr1648=)
|
rs759291615
|
0.00001
|
NM_001042492.3(NF1):c.4945G>A (p.Gly1649Arg)
|
rs770124316
|
0.00001
|
NM_001042492.3(NF1):c.5019C>T (p.Asn1673=)
|
rs767699634
|
0.00001
|
NM_001042492.3(NF1):c.5087T>C (p.Leu1696Pro)
|
rs745489489
|
0.00001
|
NM_001042492.3(NF1):c.5116C>T (p.Leu1706Phe)
|
rs769087878
|
0.00001
|
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp)
|
rs773378630
|
0.00001
|
NM_001042492.3(NF1):c.5167C>G (p.Gln1723Glu)
|
rs766727694
|
0.00001
|
NM_001042492.3(NF1):c.5229T>C (p.Ala1743=)
|
rs876657546
|
0.00001
|
NM_001042492.3(NF1):c.5270T>C (p.Val1757Ala)
|
rs1021835871
|
0.00001
|
NM_001042492.3(NF1):c.5280T>C (p.Thr1760=)
|
rs779104728
|
0.00001
|
NM_001042492.3(NF1):c.5293A>G (p.Thr1765Ala)
|
rs747584987
|
0.00001
|
NM_001042492.3(NF1):c.5344A>G (p.Ile1782Val)
|
rs1160436761
|
0.00001
|
NM_001042492.3(NF1):c.5351A>T (p.Tyr1784Phe)
|
rs1060500280
|
0.00001
|
NM_001042492.3(NF1):c.5358G>A (p.Ser1786=)
|
rs373313111
|
0.00001
|
NM_001042492.3(NF1):c.5407A>G (p.Ile1803Val)
|
rs559910904
|
0.00001
|
NM_001042492.3(NF1):c.5436C>T (p.Phe1812=)
|
rs864622640
|
0.00001
|
NM_001042492.3(NF1):c.5458A>C (p.Ile1820Leu)
|
rs786202459
|
0.00001
|
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)
|
rs797045139
|
0.00001
|
NM_001042492.3(NF1):c.5578C>G (p.Leu1860Val)
|
rs746689492
|
0.00001
|
NM_001042492.3(NF1):c.5610-12G>A
|
rs749499960
|
0.00001
|
NM_001042492.3(NF1):c.5745G>T (p.Leu1915=)
|
rs1234091349
|
0.00001
|
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)
|
rs397514641
|
0.00001
|
NM_001042492.3(NF1):c.575G>A (p.Arg192Gln)
|
rs587781670
|
0.00001
|
NM_001042492.3(NF1):c.5768C>T (p.Thr1923Met)
|
rs786203824
|
0.00001
|
NM_001042492.3(NF1):c.5769G>A (p.Thr1923=)
|
rs780145472
|
0.00001
|
NM_001042492.3(NF1):c.5812+332A>G
|
rs863224491
|
0.00001
|
NM_001042492.3(NF1):c.5820A>G (p.Glu1940=)
|
rs1387817581
|
0.00001
|
NM_001042492.3(NF1):c.584A>G (p.Lys195Arg)
|
rs587778552
|
0.00001
|
NM_001042492.3(NF1):c.5951A>G (p.Asn1984Ser)
|
rs764291252
|
0.00001
|
NM_001042492.3(NF1):c.5958A>G (p.Lys1986=)
|
rs1216926117
|
0.00001
|
NM_001042492.3(NF1):c.6006G>A (p.Gln2002=)
|
rs1555534432
|
0.00001
|
NM_001042492.3(NF1):c.6148G>T (p.Val2050Phe)
|
rs1300330804
|
0.00001
|
NM_001042492.3(NF1):c.6345G>A (p.Pro2115=)
|
rs779475182
|
0.00001
|
NM_001042492.3(NF1):c.6449G>C (p.Arg2150Thr)
|
rs2069704009
|
0.00001
|
NM_001042492.3(NF1):c.6546C>T (p.Tyr2182=)
|
rs876659768
|
0.00001
|
NM_001042492.3(NF1):c.655-3T>C
|
rs746584147
|
0.00001
|
NM_001042492.3(NF1):c.6585G>A (p.Glu2195=)
|
rs202151774
|
0.00001
|
NM_001042492.3(NF1):c.6665C>T (p.Thr2222Met)
|
rs369803831
|
0.00001
|
NM_001042492.3(NF1):c.6674G>A (p.Trp2225Ter)
|
rs1193716348
|
0.00001
|
NM_001042492.3(NF1):c.6704+1G>T
|
rs1060500376
|
0.00001
|
NM_001042492.3(NF1):c.6704+3A>G
|
rs375560135
|
0.00001
|
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln)
|
rs786202030
|
0.00001
|
NM_001042492.3(NF1):c.6779C>T (p.Ser2260Phe)
|
rs876658775
|
0.00001
|
NM_001042492.3(NF1):c.6790A>T (p.Ile2264Leu)
|
rs761213794
|
0.00001
|
NM_001042492.3(NF1):c.6806G>A (p.Arg2269His)
|
rs562367786
|
0.00001
|
NM_001042492.3(NF1):c.680A>T (p.Tyr227Phe)
|
rs1555608742
|
0.00001
|
NM_001042492.3(NF1):c.6819+4C>T
|
rs755135948
|
0.00001
|
NM_001042492.3(NF1):c.681T>C (p.Tyr227=)
|
rs745804540
|
0.00001
|
NM_001042492.3(NF1):c.6834C>T (p.Cys2278=)
|
rs149603406
|
0.00001
|
NM_001042492.3(NF1):c.6855C>G (p.Tyr2285Ter)
|
rs772295894
|
0.00001
|
NM_001042492.3(NF1):c.6879T>C (p.Ala2293=)
|
rs761125983
|
0.00001
|
NM_001042492.3(NF1):c.6922-13T>C
|
rs199901687
|
0.00001
|
NM_001042492.3(NF1):c.7005C>T (p.Thr2335=)
|
rs2040793
|
0.00001
|
NM_001042492.3(NF1):c.7045C>T (p.Arg2349Cys)
|
rs56013763
|
0.00001
|
NM_001042492.3(NF1):c.7080T>A (p.Phe2360Leu)
|
rs2069866250
|
0.00001
|
NM_001042492.3(NF1):c.7087A>G (p.Ile2363Val)
|
rs137966859
|
0.00001
|
NM_001042492.3(NF1):c.7091G>A (p.Arg2364Gln)
|
rs1555535407
|
0.00001
|
NM_001042492.3(NF1):c.7135G>A (p.Gly2379Arg)
|
rs775476318
|
0.00001
|
NM_001042492.3(NF1):c.7211C>T (p.Ala2404Val)
|
rs771706364
|
0.00001
|
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val)
|
rs565708398
|
0.00001
|
NM_001042492.3(NF1):c.7241A>G (p.His2414Arg)
|
rs876659855
|
0.00001
|
NM_001042492.3(NF1):c.7253C>T (p.Thr2418Ile)
|
rs764022114
|
0.00001
|
NM_001042492.3(NF1):c.7280A>G (p.Asp2427Gly)
|
rs1359563939
|
0.00001
|
NM_001042492.3(NF1):c.7298C>T (p.Thr2433Ile)
|
rs755749772
|
0.00001
|
NM_001042492.3(NF1):c.730+16dup
|
rs373999174
|
0.00001
|
NM_001042492.3(NF1):c.7306G>A (p.Val2436Met)
|
rs876659856
|
0.00001
|
NM_001042492.3(NF1):c.7322-13G>A
|
rs753596831
|
0.00001
|
NM_001042492.3(NF1):c.7323T>G (p.Ala2441=)
|
rs765750009
|
0.00001
|
NM_001042492.3(NF1):c.7332A>G (p.Thr2444=)
|
rs759005886
|
0.00001
|
NM_001042492.3(NF1):c.7349G>A (p.Arg2450Gln)
|
rs533110479
|
0.00001
|
NM_001042492.3(NF1):c.7370A>G (p.His2457Arg)
|
rs863224664
|
0.00001
|
NM_001042492.3(NF1):c.7394A>G (p.Asp2465Gly)
|
rs143474365
|
0.00001
|
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val)
|
rs748027595
|
0.00001
|
NM_001042492.3(NF1):c.7402A>G (p.Met2468Val)
|
rs151211377
|
0.00001
|
NM_001042492.3(NF1):c.7432A>G (p.Ile2478Val)
|
rs759307070
|
0.00001
|
NM_001042492.3(NF1):c.7439A>G (p.His2480Arg)
|
rs371151718
|
0.00001
|
NM_001042492.3(NF1):c.7449T>C (p.Pro2483=)
|
rs878853916
|
0.00001
|
NM_001042492.3(NF1):c.7487C>G (p.Ser2496Cys)
|
rs371773406
|
0.00001
|
NM_001042492.3(NF1):c.7525C>T (p.Pro2509Ser)
|
rs886052803
|
0.00001
|
NM_001042492.3(NF1):c.7585C>T (p.Pro2529Ser)
|
rs1555536370
|
0.00001
|
NM_001042492.3(NF1):c.7600A>G (p.Thr2534Ala)
|
rs779737221
|
0.00001
|
NM_001042492.3(NF1):c.7623G>A (p.Arg2541=)
|
rs876660737
|
0.00001
|
NM_001042492.3(NF1):c.7643T>G (p.Ile2548Arg)
|
rs864622266
|
0.00001
|
NM_001042492.3(NF1):c.7645T>C (p.Ser2549Pro)
|
rs767458044
|
0.00001
|
NM_001042492.3(NF1):c.7700C>T (p.Pro2567Leu)
|
rs754511534
|
0.00001
|
NM_001042492.3(NF1):c.7742C>G (p.Thr2581Ser)
|
rs757632129
|
0.00001
|
NM_001042492.3(NF1):c.7757C>T (p.Ser2586Leu)
|
rs769876049
|
0.00001
|
NM_001042492.3(NF1):c.7781G>A (p.Arg2594His)
|
rs774781617
|
0.00001
|
NM_001042492.3(NF1):c.7810C>G (p.Leu2604Val)
|
rs776602307
|
0.00001
|
NM_001042492.3(NF1):c.7825G>A (p.Val2609Ile)
|
rs786203848
|
0.00001
|
NM_001042492.3(NF1):c.7841A>G (p.Lys2614Arg)
|
rs587781502
|
0.00001
|
NM_001042492.3(NF1):c.7850C>T (p.Ala2617Val)
|
rs375990655
|
0.00001
|
NM_001042492.3(NF1):c.7889C>G (p.Thr2630Ser)
|
rs1283946778
|
0.00001
|
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala)
|
rs199474793
|
0.00001
|
NM_001042492.3(NF1):c.7943T>G (p.Val2648Gly)
|
rs1487025591
|
0.00001
|
NM_001042492.3(NF1):c.7971-7C>A
|
rs754359027
|
0.00001
|
NM_001042492.3(NF1):c.7981T>C (p.Leu2661=)
|
rs777848844
|
0.00001
|
NM_001042492.3(NF1):c.8150C>T (p.Pro2717Leu)
|
rs778799019
|
0.00001
|
NM_001042492.3(NF1):c.8298G>A (p.Leu2766=)
|
rs768947696
|
0.00001
|
NM_001042492.3(NF1):c.8378-4C>T
|
rs587782700
|
0.00001
|
NM_001042492.3(NF1):c.8386A>C (p.Lys2796Gln)
|
rs1383658117
|
0.00001
|
NM_001042492.3(NF1):c.83A>C (p.Gln28Pro)
|
rs587782686
|
0.00001
|
NM_001042492.3(NF1):c.8451C>T (p.Ser2817=)
|
rs547090599
|
0.00001
|
NM_001042492.3(NF1):c.8500A>G (p.Ser2834Gly)
|
rs764858484
|
0.00001
|
NM_001042492.3(NF1):c.8515G>A (p.Val2839Met)
|
rs368149035
|
0.00001
|
NM_001042492.3(NF1):c.888+5G>A
|
rs556444929
|
0.00001
|
NM_001042492.3(NF1):c.911G>A (p.Arg304Gln)
|
rs76015786
|
0.00001
|
GRCh37/hg19 17q11.2(chr17:29422328-29422387)x1
|
|
|
GRCh37/hg19 17q11.2(chr17:29441880-29498224)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29479196-29562294)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29483858-29498224)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29490394-29509683)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29507565-29569315)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29508170-29534686)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29516113-29534686)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29516113-29562294)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29516113-29564145)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29521787-29534686)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29521787-29536323)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29521833-29531143)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29523306-29532659)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29523306-29532904)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29523306-29534686)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29523306-29541844)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29573263-29589360)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29573263-29589502)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29573369-29589502)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29574712-29589502)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29584195-29589381)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29584882-29589381)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29654138-29700112)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29654876-29700112)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29655304-29699649)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29661340-29699860)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29679275-29679432)x1
|
|
|
GRCh37/hg19 17q11.2(chr17:29686894-29711411)x3
|
|
|
NC_000017.11:g.31378926C>T
|
|
|
NC_000017.11:g.31379024G>A
|
|
|
NM_000267.3(NF1):c.206_207delGA
|
rs1060500321
|
|
NM_000267.3(NF1):c.5206delG
|
rs1555533549
|
|
NM_000267.3(NF1):c.6085del
|
|
|
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter)
|
rs876657715
|
|
NM_000267.3(NF1):c.730+32dup
|
rs71142032
|
|
NM_001042492.3(NF1):c.*1delinsTCG
|
|
|
NM_001042492.3(NF1):c.*3514G>A
|
rs574282086
|
|
NM_001042492.3(NF1):c.*585G>T
|
rs372804411
|
|
NM_001042492.3(NF1):c.*879del
|
|
|
NM_001042492.3(NF1):c.1008G>A (p.Trp336Ter)
|
rs2143873786
|
|
NM_001042492.3(NF1):c.1010A>T (p.Glu337Val)
|
rs199474736
|
|
NM_001042492.3(NF1):c.1013A>G (p.Asp338Gly)
|
rs199474773
|
|
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs)
|
rs1555610903
|
|
NM_001042492.3(NF1):c.1020dup (p.Val341fs)
|
rs1555610905
|
|
NM_001042492.3(NF1):c.1021_1022del (p.Val341fs)
|
rs2066509100
|
|
NM_001042492.3(NF1):c.1023dup (p.Ile342fs)
|
rs2143874110
|
|
NM_001042492.3(NF1):c.1024A>G (p.Ile342Val)
|
rs2066509214
|
|
NM_001042492.3(NF1):c.1032A>T (p.Leu344=)
|
rs199832006
|
|
NM_001042492.3(NF1):c.1039C>T (p.Gln347Ter)
|
rs1555610910
|
|
NM_001042492.3(NF1):c.1050G>C (p.Val350=)
|
rs1597681164
|
|
NM_001042492.3(NF1):c.1052T>C (p.Val351Ala)
|
rs878853861
|
|
NM_001042492.3(NF1):c.1061A>G (p.Lys354Arg)
|
rs1135402801
|
|
NM_001042492.3(NF1):c.1062+1G>A
|
rs1597681200
|
|
NM_001042492.3(NF1):c.1062+2T>C
|
rs2066510391
|
|
NM_001042492.3(NF1):c.1062+3A>G
|
rs1057521098
|
|
NM_001042492.3(NF1):c.1062G>A (p.Lys354=)
|
rs1131691118
|
|
NM_001042492.3(NF1):c.1062G>C (p.Lys354Asn)
|
rs1131691118
|
|
NM_001042492.3(NF1):c.1063-1G>A
|
rs1555610955
|
|
NM_001042492.3(NF1):c.1063-1G>C
|
rs1555610955
|
|
NM_001042492.3(NF1):c.1063-2A>C
|
|
|
NM_001042492.3(NF1):c.1063-2A>G
|
rs1060500358
|
|
NM_001042492.3(NF1):c.1069C>T (p.Leu357Phe)
|
rs1567835662
|
|
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro)
|
rs137854563
|
|
NM_001042492.3(NF1):c.1070T>G (p.Leu357Arg)
|
rs137854563
|
|
NM_001042492.3(NF1):c.1079dup (p.Ser361fs)
|
rs2143878590
|
|
NM_001042492.3(NF1):c.1081A>G (p.Ser361Gly)
|
|
|
NM_001042492.3(NF1):c.1085A>G (p.Lys362Arg)
|
rs1555610976
|
|
NM_001042492.3(NF1):c.1091del (p.Phe364fs)
|
rs2066519253
|
|
NM_001042492.3(NF1):c.1094C>G (p.Ser365Ter)
|
rs864622107
|
|
NM_001042492.3(NF1):c.1105C>T (p.Gln369Ter)
|
|
|
NM_001042492.3(NF1):c.1108C>T (p.Pro370Ser)
|
rs878853862
|
|
NM_001042492.3(NF1):c.1117G>A (p.Val373Met)
|
|
|
NM_001042492.3(NF1):c.1135T>C (p.Cys379Arg)
|
rs1060500281
|
|
NM_001042492.3(NF1):c.1139T>G (p.Leu380Arg)
|
rs1555611004
|
|
NM_001042492.3(NF1):c.1174C>T (p.Gln392Ter)
|
rs1597682137
|
|
NM_001042492.3(NF1):c.1177C>G (p.His393Asp)
|
rs199474768
|
|
NM_001042492.3(NF1):c.1178A>T (p.His393Leu)
|
rs199474769
|
|
NM_001042492.3(NF1):c.1182dup (p.Lys395Ter)
|
rs1597682159
|
|
NM_001042492.3(NF1):c.1185+1G>A
|
rs864622161
|
|
NM_001042492.3(NF1):c.1185+5G>T
|
|
|
NM_001042492.3(NF1):c.1186-13del
|
rs763903212
|
|
NM_001042492.3(NF1):c.1186-1G>C
|
rs876660782
|
|
NM_001042492.3(NF1):c.1186-2A>G
|
rs1373365576
|
|
NM_001042492.3(NF1):c.1186-8T>C
|
rs921012432
|
|
NM_001042492.3(NF1):c.1198C>T (p.Gln400Ter)
|
rs1597682751
|
|
NM_001042492.3(NF1):c.121G>T (p.Glu41Ter)
|
rs1567814497
|
|
NM_001042492.3(NF1):c.1225G>A (p.Val409Met)
|
rs2143886228
|
|
NM_001042492.3(NF1):c.1226T>A (p.Val409Glu)
|
rs876660378
|
|
NM_001042492.3(NF1):c.1229T>C (p.Leu410Pro)
|
|
|
NM_001042492.3(NF1):c.1235A>G (p.Asn412Ser)
|
rs1567836090
|
|
NM_001042492.3(NF1):c.1237T>A (p.Ser413Thr)
|
rs1555611093
|
|
NM_001042492.3(NF1):c.1238C>G (p.Ser413Ter)
|
rs1241533665
|
|
NM_001042492.3(NF1):c.1243dup (p.His415fs)
|
rs1085307728
|
|
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter)
|
rs764079291
|
|
NM_001042492.3(NF1):c.1254C>T (p.Ile418=)
|
|
|
NM_001042492.3(NF1):c.1260+1604A>G
|
rs1131691067
|
|
NM_001042492.3(NF1):c.1260+1G>C
|
rs267606603
|
|
NM_001042492.3(NF1):c.1260+2T>G
|
rs1555611110
|
|
NM_001042492.3(NF1):c.1260+4A>G
|
rs2066529521
|
|
NM_001042492.3(NF1):c.1261-1G>T
|
rs2066618707
|
|
NM_001042492.3(NF1):c.1261-2A>G
|
rs2066618684
|
|
NM_001042492.3(NF1):c.1261-325del
|
rs879834365
|
|
NM_001042492.3(NF1):c.1278G>A (p.Trp426Ter)
|
rs1131691085
|
|
NM_001042492.3(NF1):c.128T>C (p.Leu43Pro)
|
rs1555604899
|
|
NM_001042492.3(NF1):c.1299T>G (p.Tyr433Ter)
|
rs876660099
|
|
NM_001042492.3(NF1):c.1310T>C (p.Val437Ala)
|
rs876658642
|
|
NM_001042492.3(NF1):c.1316T>C (p.Leu439Pro)
|
rs2143914353
|
|
NM_001042492.3(NF1):c.1331G>A (p.Gly444Asp)
|
rs1555611582
|
|
NM_001042492.3(NF1):c.1339C>T (p.Leu447Phe)
|
|
|
NM_001042492.3(NF1):c.1342C>T (p.His448Tyr)
|
rs1131691257
|
|
NM_001042492.3(NF1):c.1348G>A (p.Ala450Thr)
|
rs2143914842
|
|
NM_001042492.3(NF1):c.1351G>A (p.Val451Met)
|
|
|
NM_001042492.3(NF1):c.1352T>G (p.Val451Gly)
|
rs747466938
|
|
NM_001042492.3(NF1):c.1362_1364del (p.Cys454_Gly455delinsTer)
|
rs2143915068
|
|
NM_001042492.3(NF1):c.1370A>T (p.His457Leu)
|
rs786202763
|
|
NM_001042492.3(NF1):c.1371C>A (p.His457Gln)
|
rs1318894606
|
|
NM_001042492.3(NF1):c.1373del (p.Pro458fs)
|
rs2143915236
|
|
NM_001042492.3(NF1):c.1381C>A (p.Arg461=)
|
rs878853865
|
|
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter)
|
rs878853865
|
|
NM_001042492.3(NF1):c.1392+1G>T
|
rs267604791
|
|
NM_001042492.3(NF1):c.1392+303_1392+317del
|
rs17884042
|
|
NM_001042492.3(NF1):c.1392+5_1392+6delinsTT
|
rs587782851
|
|
NM_001042492.3(NF1):c.1392+634_1392+635del
|
rs59430631
|
|
NM_001042492.3(NF1):c.1393-1G>A
|
rs1131691131
|
|
NM_001042492.3(NF1):c.1393-1G>T
|
rs1131691131
|
|
NM_001042492.3(NF1):c.1393-20T>C
|
rs1057523234
|
|
NM_001042492.3(NF1):c.1393-213del
|
rs58513322
|
|
NM_001042492.3(NF1):c.1393-2A>G
|
rs1555612266
|
|
NM_001042492.3(NF1):c.1393-2dup
|
rs1394021280
|
|
NM_001042492.3(NF1):c.1393-408T>C
|
rs2952995
|
|
NM_001042492.3(NF1):c.1393-592A>G
|
rs2066773116
|
|
NM_001042492.3(NF1):c.1399dup (p.Thr467fs)
|
rs778963145
|
|
NM_001042492.3(NF1):c.1400del (p.Thr467fs)
|
rs1135402808
|
|
NM_001042492.3(NF1):c.1407A>G (p.Lys469=)
|
rs2143958833
|
|
NM_001042492.3(NF1):c.1415dup (p.Thr473fs)
|
|
|
NM_001042492.3(NF1):c.1429T>C (p.Phe477Leu)
|
rs1555612276
|
|
NM_001042492.3(NF1):c.1432A>G (p.Lys478Glu)
|
|
|
NM_001042492.3(NF1):c.1438A>T (p.Lys480Ter)
|
rs2143959211
|
|
NM_001042492.3(NF1):c.1440del (p.Lys480fs)
|
rs2066786100
|
|
NM_001042492.3(NF1):c.1442del (p.Pro481fs)
|
|
|
NM_001042492.3(NF1):c.1448A>T (p.Asp483Val)
|
|
|
NM_001042492.3(NF1):c.1450C>T (p.Leu484=)
|
rs876657544
|
|
NM_001042492.3(NF1):c.1453G>T (p.Glu485Ter)
|
rs1131691610
|
|
NM_001042492.3(NF1):c.1467T>A (p.Tyr489Ter)
|
rs1567841799
|
|
NM_001042492.3(NF1):c.1467T>G (p.Tyr489Ter)
|
|
|
NM_001042492.3(NF1):c.1467dup (p.Lys490Ter)
|
|
|
NM_001042492.3(NF1):c.146A>G (p.Tyr49Cys)
|
rs2143626634
|
|
NM_001042492.3(NF1):c.1477C>T (p.Leu493Phe)
|
rs1135402812
|
|
NM_001042492.3(NF1):c.147del (p.Lys48_Tyr49insTer)
|
rs1597626031
|
|
NM_001042492.3(NF1):c.1491_1499del (p.Lys498_Ile500del)
|
rs2143960093
|
|
NM_001042492.3(NF1):c.1498_1500del (p.Ile500del)
|
rs2143960261
|
|
NM_001042492.3(NF1):c.1505_1527+1del
|
|
|
NM_001042492.3(NF1):c.1506dup (p.Asp503fs)
|
|
|
NM_001042492.3(NF1):c.1527+1159C>T
|
rs878853868
|
|
NM_001042492.3(NF1):c.1527+1519dup
|
|
|
NM_001042492.3(NF1):c.1527+1G>A
|
rs1060500331
|
|
NM_001042492.3(NF1):c.1527+1G>T
|
rs1060500331
|
|
NM_001042492.3(NF1):c.1527+2T>G
|
rs1064796700
|
|
NM_001042492.3(NF1):c.1527+2dup
|
rs1597698533
|
|
NM_001042492.3(NF1):c.1527+4_1527+7del
|
rs1555612294
|
|
NM_001042492.3(NF1):c.1527+5G>A
|
rs1060500352
|
|
NM_001042492.3(NF1):c.1527+5G>T
|
rs1060500352
|
|
NM_001042492.3(NF1):c.1528-29dup
|
rs398119783
|
|
NM_001042492.3(NF1):c.1528-971G>A
|
|
|
NM_001042492.3(NF1):c.1536A>C (p.Arg512Ser)
|
|
|
NM_001042492.3(NF1):c.153T>C (p.Phe51=)
|
rs1057523892
|
|
NM_001042492.3(NF1):c.1540C>T (p.Gln514Ter)
|
rs1316926587
|
|
NM_001042492.3(NF1):c.1541del (p.Gln514fs)
|
rs1555612815
|
|
NM_001042492.3(NF1):c.1545G>T (p.Gly515=)
|
rs876658203
|
|
NM_001042492.3(NF1):c.1556A>C (p.Gln519Pro)
|
rs199474770
|
|
NM_001042492.3(NF1):c.1560C>T (p.Gly520=)
|
rs112168406
|
|
NM_001042492.3(NF1):c.1572del (p.Glu524fs)
|
rs1085307461
|
|
NM_001042492.3(NF1):c.1582G>A (p.Gly528Arg)
|
rs2143986428
|
|
NM_001042492.3(NF1):c.1586T>C (p.Leu529Pro)
|
|
|
NM_001042492.3(NF1):c.1591C>T (p.Gln531Ter)
|
rs1057518134
|
|
NM_001042492.3(NF1):c.1594C>T (p.Leu532=)
|
rs2143986669
|
|
NM_001042492.3(NF1):c.1595T>C (p.Leu532Pro)
|
rs199474737
|
|
NM_001042492.3(NF1):c.1601del (p.Pro534fs)
|
rs2143986751
|
|
NM_001042492.3(NF1):c.1602_1603del (p.Gln535fs)
|
rs2143986796
|
|
NM_001042492.3(NF1):c.1603C>T (p.Gln535Ter)
|
rs1567843917
|
|
NM_001042492.3(NF1):c.1605G>A (p.Gln535=)
|
rs1567843919
|
|
NM_001042492.3(NF1):c.1608dup (p.His537fs)
|
rs1597703530
|
|
NM_001042492.3(NF1):c.1633G>C (p.Ala545Pro)
|
rs1567843945
|
|
NM_001042492.3(NF1):c.1636A>G (p.Met546Val)
|
rs2066877456
|
|
NM_001042492.3(NF1):c.1641+1G>A
|
rs1555612866
|
|
NM_001042492.3(NF1):c.1641+7G>C
|
rs1060503887
|
|
NM_001042492.3(NF1):c.1642-12dup
|
rs2144003305
|
|
NM_001042492.3(NF1):c.1642-1G>T
|
rs1555613185
|
|
NM_001042492.3(NF1):c.1642-3C>G
|
rs1597706610
|
|
NM_001042492.3(NF1):c.1642-3C>T
|
rs1597706610
|
|
NM_001042492.3(NF1):c.1642-449A>G
|
rs863224655
|
|
NM_001042492.3(NF1):c.1642G>T (p.Ala548Ser)
|
rs2066927450
|
|
NM_001042492.3(NF1):c.1646T>C (p.Leu549Pro)
|
rs199474758
|
|
NM_001042492.3(NF1):c.164T>C (p.Ile55Thr)
|
rs2065657050
|
|
NM_001042492.3(NF1):c.1650G>C (p.Leu550=)
|
rs1555613190
|
|
NM_001042492.3(NF1):c.1658A>G (p.His553Arg)
|
rs1064794274
|
|
NM_001042492.3(NF1):c.1660C>T (p.Gln554Ter)
|
rs953440640
|
|
NM_001042492.3(NF1):c.1661A>G (p.Gln554Arg)
|
rs863224656
|
|
NM_001042492.3(NF1):c.1667A>G (p.Asp556Gly)
|
rs2144004099
|
|
NM_001042492.3(NF1):c.1672del (p.Ile558fs)
|
rs1567845057
|
|
NM_001042492.3(NF1):c.1673T>C (p.Ile558Thr)
|
rs2144004218
|
|
NM_001042492.3(NF1):c.1682_1688dup (p.Asp564fs)
|
rs2144004346
|
|
NM_001042492.3(NF1):c.1711del (p.Trp571fs)
|
rs1597706737
|
|
NM_001042492.3(NF1):c.1717A>G (p.Ile573Val)
|
rs1597706766
|
|
NM_001042492.3(NF1):c.1719T>G (p.Ile573Met)
|
rs2144004922
|
|
NM_001042492.3(NF1):c.1721+1G>C
|
rs1131691096
|
|
NM_001042492.3(NF1):c.1721+3A>G
|
rs1057518904
|
|
NM_001042492.3(NF1):c.1721+542A>G
|
rs2066942173
|
|
NM_001042492.3(NF1):c.1721+678dup
|
rs59458028
|
|
NM_001042492.3(NF1):c.1721+6T>G
|
rs2144005065
|
|
NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn)
|
rs1555613206
|
|
NM_001042492.3(NF1):c.1721G>T (p.Ser574Ile)
|
rs1555613206
|
|
NM_001042492.3(NF1):c.1722-1G>A
|
rs1567845818
|
|
NM_001042492.3(NF1):c.1722-24A>G
|
rs1567845793
|
|
NM_001042492.3(NF1):c.1722-24_1722-12del
|
rs2144014907
|
|
NM_001042492.3(NF1):c.1722-2A>G
|
rs763983337
|
|
NM_001042492.3(NF1):c.1726C>T (p.Gln576Ter)
|
rs1060500278
|
|
NM_001042492.3(NF1):c.1728A>G (p.Gln576=)
|
rs1057523206
|
|
NM_001042492.3(NF1):c.1733T>G (p.Leu578Arg)
|
rs199474774
|
|
NM_001042492.3(NF1):c.1734T>C (p.Leu578=)
|
rs876658128
|
|
NM_001042492.3(NF1):c.1742T>C (p.Ile581Thr)
|
rs199474759
|
|
NM_001042492.3(NF1):c.1742del (p.Ile581fs)
|
rs2144015861
|
|
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg)
|
rs199474760
|
|
NM_001042492.3(NF1):c.1751A>G (p.Lys584Arg)
|
|
|
NM_001042492.3(NF1):c.1754T>G (p.Leu585Ter)
|
rs775670722
|
|
NM_001042492.3(NF1):c.1754del (p.Lys584_Leu585insTer)
|
|
|
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)
|
rs786202782
|
|
NM_001042492.3(NF1):c.1765C>T (p.Gln589Ter)
|
rs1282299543
|
|
NM_001042492.3(NF1):c.176CTA[1] (p.Thr60del)
|
rs2143627187
|
|
NM_001042492.3(NF1):c.1771C>G (p.Leu591Val)
|
rs767247726
|
|
NM_001042492.3(NF1):c.1780A>G (p.Thr594Ala)
|
rs1555613419
|
|
NM_001042492.3(NF1):c.1785_1786del (p.Glu595fs)
|
rs1567845900
|
|
NM_001042492.3(NF1):c.1796G>A (p.Trp599Ter)
|
rs1131691130
|
|
NM_001042492.3(NF1):c.1797G>A (p.Trp599Ter)
|
rs1567845906
|
|
NM_001042492.3(NF1):c.179C>G (p.Thr60Ser)
|
rs1007047958
|
|
NM_001042492.3(NF1):c.1801_1803del (p.Arg601del)
|
rs1555613421
|
|
NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln)
|
rs1060500288
|
|
NM_001042492.3(NF1):c.1805A>T (p.Glu602Val)
|
rs1597708772
|
|
NM_001042492.3(NF1):c.1805_1807del (p.Glu602_Ile603delinsVal)
|
|
|
NM_001042492.3(NF1):c.1810T>G (p.Leu604Val)
|
rs142712751
|
|
NM_001042492.3(NF1):c.1814T>C (p.Ile605Thr)
|
rs386833409
|
|
NM_001042492.3(NF1):c.1833del (p.Asn614fs)
|
|
|
NM_001042492.3(NF1):c.1845+14C>T
|
rs1057523395
|
|
NM_001042492.3(NF1):c.1845+17_1845+18del
|
rs765979407
|
|
NM_001042492.3(NF1):c.1845+1G>A
|
rs1567845945
|
|
NM_001042492.3(NF1):c.1845+1G>T
|
|
|
NM_001042492.3(NF1):c.1845+2T>G
|
|
|
NM_001042492.3(NF1):c.1845+45G>A
|
rs116688303
|
|
NM_001042492.3(NF1):c.1845+4del
|
|
|
NM_001042492.3(NF1):c.1845G>A (p.Lys615=)
|
rs1131691080
|
|
NM_001042492.3(NF1):c.1845G>T (p.Lys615Asn)
|
rs1131691080
|
|
NM_001042492.3(NF1):c.1846-13dup
|
rs757751570
|
|
NM_001042492.3(NF1):c.1846-22TTAT[2]
|
rs754412829
|
|
NM_001042492.3(NF1):c.1855A>G (p.Arg619Gly)
|
rs587781821
|
|
NM_001042492.3(NF1):c.185T>A (p.Leu62Ter)
|
|
|
NM_001042492.3(NF1):c.1863del (p.Cys622fs)
|
rs1131691777
|
|
NM_001042492.3(NF1):c.1866T>A (p.Cys622Ter)
|
rs753245823
|
|
NM_001042492.3(NF1):c.1866T>C (p.Cys622=)
|
rs753245823
|
|
NM_001042492.3(NF1):c.1873C>T (p.Leu625Phe)
|
|
|
NM_001042492.3(NF1):c.1882del (p.Tyr628fs)
|
|
|
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)
|
rs199474738
|
|
NM_001042492.3(NF1):c.1895G>A (p.Cys632Tyr)
|
rs1567846698
|
|
NM_001042492.3(NF1):c.1910G>C (p.Ser637Thr)
|
rs749745247
|
|
NM_001042492.3(NF1):c.1919C>A (p.Thr640Asn)
|
|
|
NM_001042492.3(NF1):c.1919C>G (p.Thr640Ser)
|
rs1555613573
|
|
NM_001042492.3(NF1):c.1929dup (p.Ser644fs)
|
rs2066991676
|
|
NM_001042492.3(NF1):c.1931C>G (p.Ser644Cys)
|
rs1174202288
|
|
NM_001042492.3(NF1):c.1939C>T (p.His647Tyr)
|
rs776251084
|
|
NM_001042492.3(NF1):c.1940A>G (p.His647Arg)
|
rs1170252879
|
|
NM_001042492.3(NF1):c.1973_1974del (p.Leu658fs)
|
rs1064796843
|
|
NM_001042492.3(NF1):c.1998T>C (p.Ser666=)
|
rs1567846823
|
|
NM_001042492.3(NF1):c.2002-116AC[21]
|
rs59547221
|
|
NM_001042492.3(NF1):c.2002-116AC[22]
|
rs59547221
|
|
NM_001042492.3(NF1):c.2002-116AC[23]
|
rs59547221
|
|
NM_001042492.3(NF1):c.2002-116AC[24]
|
rs59547221
|
|
NM_001042492.3(NF1):c.2002-116AC[25]
|
rs59547221
|
|
NM_001042492.3(NF1):c.2002-116AC[26]
|
rs59547221
|
|
NM_001042492.3(NF1):c.2002-1G>A
|
rs1555613743
|
|
NM_001042492.3(NF1):c.2002-2_2002-1del
|
rs2151425505
|
|
NM_001042492.3(NF1):c.2002-330A>G
|
rs17887242
|
|
NM_001042492.3(NF1):c.2002-4_2002-3del
|
rs786203664
|
|
NM_001042492.3(NF1):c.200del (p.Asn67fs)
|
rs1555604942
|
|
NM_001042492.3(NF1):c.2015G>T (p.Gly672Val)
|
rs371817372
|
|
NM_001042492.3(NF1):c.2023G>C (p.Gly675Arg)
|
rs779546178
|
|
NM_001042492.3(NF1):c.2027C>T (p.Thr676Ile)
|
rs1294581001
|
|
NM_001042492.3(NF1):c.2032_2034delinsGCA (p.Pro678Ala)
|
rs1597712318
|
|
NM_001042492.3(NF1):c.2033_2034delinsA (p.Pro678fs)
|
rs2151425601
|
|
NM_001042492.3(NF1):c.2033del (p.Pro678fs)
|
rs587781807
|
|
NM_001042492.3(NF1):c.2033dup (p.Ile679fs)
|
rs587781807
|
|
NM_001042492.3(NF1):c.2034delinsCA (p.Ile679fs)
|
rs1064796331
|
|
NM_001042492.3(NF1):c.204+1G>A
|
rs886039548
|
|
NM_001042492.3(NF1):c.204+1G>T
|
rs886039548
|
|
NM_001042492.3(NF1):c.204+2T>G
|
rs1597626161
|
|
NM_001042492.3(NF1):c.204+5G>C
|
rs1131691499
|
|
NM_001042492.3(NF1):c.205-1G>C
|
rs1555605362
|
|
NM_001042492.3(NF1):c.205-2A>G
|
rs1597629679
|
|
NM_001042492.3(NF1):c.2050C>G (p.Gln684Glu)
|
rs2067016517
|
|
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro)
|
rs1131691132
|
|
NM_001042492.3(NF1):c.2072T>G (p.Leu691Arg)
|
rs1131691132
|
|
NM_001042492.3(NF1):c.2077A>C (p.Met693Leu)
|
rs1555613794
|
|
NM_001042492.3(NF1):c.2077A>G (p.Met693Val)
|
rs1555613794
|
|
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro)
|
rs199474761
|
|
NM_001042492.3(NF1):c.2084T>G (p.Leu695Arg)
|
rs199474761
|
|
NM_001042492.3(NF1):c.2085G>A (p.Leu695=)
|
rs1060503889
|
|
NM_001042492.3(NF1):c.2113_2121dup (p.Met707_Ser708insValAlaMet)
|
|
|
NM_001042492.3(NF1):c.2116G>C (p.Ala706Pro)
|
|
|
NM_001042492.3(NF1):c.2123C>T (p.Ser708Phe)
|
rs1567847493
|
|
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg)
|
rs1131691095
|
|
NM_001042492.3(NF1):c.2127T>A (p.Cys709Ter)
|
rs2067018146
|
|
NM_001042492.3(NF1):c.2131C>T (p.Arg711Cys)
|
rs1400902839
|
|
NM_001042492.3(NF1):c.2135A>G (p.His712Arg)
|
rs199474727
|
|
NM_001042492.3(NF1):c.2135_2136dup (p.Leu713fs)
|
rs1555613810
|
|
NM_001042492.3(NF1):c.2142T>A (p.Cys714Ter)
|
rs141382637
|
|
NM_001042492.3(NF1):c.2142T>C (p.Cys714=)
|
rs141382637
|
|
NM_001042492.3(NF1):c.2149del (p.Ala717fs)
|
rs1567847540
|
|
NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp)
|
rs759679443
|
|
NM_001042492.3(NF1):c.2158del (p.Arg720fs)
|
rs1597712619
|
|
NM_001042492.3(NF1):c.2160G>T (p.Arg720=)
|
rs765339408
|
|
NM_001042492.3(NF1):c.2163T>A (p.Cys721Ter)
|
rs1555613816
|
|
NM_001042492.3(NF1):c.2177T>C (p.Val726Ala)
|
rs2151425984
|
|
NM_001042492.3(NF1):c.2207del (p.Asn736fs)
|
rs1597712699
|
|
NM_001042492.3(NF1):c.2219del (p.Glu740fs)
|
rs2151426094
|
|
NM_001042492.3(NF1):c.221C>A (p.Ala74Asp)
|
rs199474726
|
|
NM_001042492.3(NF1):c.2239A>G (p.Met747Val)
|
rs1471232737
|
|
NM_001042492.3(NF1):c.2244G>A (p.Met748Ile)
|
rs786202478
|
|
NM_001042492.3(NF1):c.2250A>G (p.Thr750=)
|
rs876659061
|
|
NM_001042492.3(NF1):c.2251+2T>C
|
|
|
NM_001042492.3(NF1):c.2251G>A (p.Gly751Arg)
|
rs1567847681
|
|
NM_001042492.3(NF1):c.2251G>C (p.Gly751Arg)
|
rs1567847681
|
|
NM_001042492.3(NF1):c.2268del (p.Arg758fs)
|
rs2151426865
|
|
NM_001042492.3(NF1):c.2271_2272del (p.Arg758fs)
|
rs2067030828
|
|
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro)
|
rs199474762
|
|
NM_001042492.3(NF1):c.2293del (p.Arg765fs)
|
rs1597713360
|
|
NM_001042492.3(NF1):c.2294G>T (p.Arg765Leu)
|
rs199474777
|
|
NM_001042492.3(NF1):c.2321C>T (p.Thr774Ile)
|
rs917302286
|
|
NM_001042492.3(NF1):c.2324A>G (p.Glu775Gly)
|
|
|
NM_001042492.3(NF1):c.2325+1G>A
|
rs1555613933
|
|
NM_001042492.3(NF1):c.2325+2T>C
|
rs1567847972
|
|
NM_001042492.3(NF1):c.2325+3A>G
|
rs1057517848
|
|
NM_001042492.3(NF1):c.2325G>C (p.Glu775Asp)
|
rs1555613932
|
|
NM_001042492.3(NF1):c.2326-1G>T
|
rs1567848100
|
|
NM_001042492.3(NF1):c.2326-2A>C
|
rs1555613975
|
|
NM_001042492.3(NF1):c.2326-3T>G
|
rs876658946
|
|
NM_001042492.3(NF1):c.2326G>A (p.Ala776Thr)
|
rs199474771
|
|
NM_001042492.3(NF1):c.2328T>G (p.Ala776=)
|
rs1555613978
|
|
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg)
|
rs876658853
|
|
NM_001042492.3(NF1):c.2329T>C (p.Trp777Arg)
|
rs876658853
|
|
NM_001042492.3(NF1):c.2330G>C (p.Trp777Ser)
|
rs199474745
|
|
NM_001042492.3(NF1):c.2331_2365del (p.Trp777_Lys789delinsTer)
|
rs2067037428
|
|
NM_001042492.3(NF1):c.2338A>C (p.Thr780Pro)
|
rs1205746953
|
|
NM_001042492.3(NF1):c.2339C>A (p.Thr780Lys)
|
rs199474746
|
|
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg)
|
rs199474746
|
|
NM_001042492.3(NF1):c.233del (p.Asn78fs)
|
rs1438566555
|
|
NM_001042492.3(NF1):c.2342A>C (p.His781Pro)
|
rs199474763
|
|
NM_001042492.3(NF1):c.2344G>A (p.Ala782Thr)
|
rs1352143970
|
|
NM_001042492.3(NF1):c.234T>A (p.Asn78Lys)
|
rs876658354
|
|
NM_001042492.3(NF1):c.2352G>C (p.Trp784Cys)
|
rs199474778
|
|
NM_001042492.3(NF1):c.2358A>G (p.Gln786=)
|
rs762346437
|
|
NM_001042492.3(NF1):c.236T>A (p.Leu79Ter)
|
rs1597629765
|
|
NM_001042492.3(NF1):c.2374C>T (p.Leu792Phe)
|
rs1555614005
|
|
NM_001042492.3(NF1):c.237A>G (p.Leu79=)
|
rs752208826
|
|
NM_001042492.3(NF1):c.2389del (p.Ala797fs)
|
rs1555614016
|
|
NM_001042492.3(NF1):c.2390C>T (p.Ala797Val)
|
rs1181350360
|
|
NM_001042492.3(NF1):c.239A>T (p.Tyr80Phe)
|
rs4795581
|
|
NM_001042492.3(NF1):c.2409+1G>A
|
rs1555614022
|
|
NM_001042492.3(NF1):c.2409+1G>T
|
rs1555614022
|
|
NM_001042492.3(NF1):c.2409+2T>G
|
rs876660826
|
|
NM_001042492.3(NF1):c.2410-12T>C
|
rs876657932
|
|
NM_001042492.3(NF1):c.2410-12T>G
|
rs876657932
|
|
NM_001042492.3(NF1):c.2410-13A>T
|
rs1567848711
|
|
NM_001042492.3(NF1):c.2410-16A>G
|
rs1567848704
|
|
NM_001042492.3(NF1):c.2410-1G>C
|
rs1057518792
|
|
NM_001042492.3(NF1):c.2410-9T>G
|
|
|
NM_001042492.3(NF1):c.2410G>C (p.Ala804Pro)
|
rs761109477
|
|
NM_001042492.3(NF1):c.2413G>A (p.Ala805Thr)
|
rs2067064287
|
|
NM_001042492.3(NF1):c.2416G>A (p.Glu806Lys)
|
|
|
NM_001042492.3(NF1):c.241C>A (p.Leu81Ile)
|
rs587782772
|
|
NM_001042492.3(NF1):c.2440A>T (p.Lys814Ter)
|
rs1555614184
|
|
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)
|
rs886041347
|
|
NM_001042492.3(NF1):c.244_247del (p.Ser82_Gln83insTer)
|
rs771115661
|
|
NM_001042492.3(NF1):c.2452del (p.Ser818fs)
|
rs2067065066
|
|
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe)
|
rs199474729
|
|
NM_001042492.3(NF1):c.2462G>T (p.Ser821Ile)
|
rs1303972238
|
|
NM_001042492.3(NF1):c.2468G>T (p.Gly823Val)
|
rs1060500267
|
|
NM_001042492.3(NF1):c.246_248delinsG (p.Gln83fs)
|
rs2143646085
|
|
NM_001042492.3(NF1):c.247C>T (p.Gln83Ter)
|
rs746824139
|
|
NM_001042492.3(NF1):c.2483del (p.Leu828fs)
|
rs1131691069
|
|
NM_001042492.3(NF1):c.2486C>T (p.Ser829Phe)
|
rs1567848794
|
|
NM_001042492.3(NF1):c.248A>C (p.Gln83Pro)
|
rs1060500360
|
|
NM_001042492.3(NF1):c.249del (p.Gln83fs)
|
|
|
NM_001042492.3(NF1):c.2503C>T (p.Gln835Ter)
|
rs1555614207
|
|
NM_001042492.3(NF1):c.2511G>A (p.Trp837Ter)
|
rs1555614211
|
|
NM_001042492.3(NF1):c.2514C>T (p.Ile838=)
|
rs863224352
|
|
NM_001042492.3(NF1):c.2518A>G (p.Met840Val)
|
rs779931789
|
|
NM_001042492.3(NF1):c.2523_2524insAAG (p.Thr841_Gly842insLys)
|
rs1555614222
|
|
NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe)
|
rs199474785
|
|
NM_001042492.3(NF1):c.2531T>C (p.Leu844Pro)
|
rs137854566
|
|
NM_001042492.3(NF1):c.2537C>A (p.Ala846Asp)
|
rs1555614229
|
|
NM_001042492.3(NF1):c.2539C>T (p.Leu847Phe)
|
rs753552408
|
|
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)
|
rs199474747
|
|
NM_001042492.3(NF1):c.2543G>A (p.Gly848Glu)
|
rs199474748
|
|
NM_001042492.3(NF1):c.2545G>T (p.Gly849Ter)
|
rs1064794275
|
|
NM_001042492.3(NF1):c.2546del (p.Gly849fs)
|
rs1567848878
|
|
NM_001042492.3(NF1):c.2547dup (p.Val850fs)
|
|
|
NM_001042492.3(NF1):c.2548G>A (p.Val850Met)
|
rs2151429112
|
|
NM_001042492.3(NF1):c.2557C>T (p.Gln853Ter)
|
rs2151429126
|
|
NM_001042492.3(NF1):c.2560C>T (p.Gln854Ter)
|
rs1555614261
|
|
NM_001042492.3(NF1):c.2567G>C (p.Ser856Thr)
|
rs2151429147
|
|
NM_001042492.3(NF1):c.2588A>G (p.Tyr863Cys)
|
rs1344682851
|
|
NM_001042492.3(NF1):c.2617C>G (p.Arg873Gly)
|
rs199474739
|
|
NM_001042492.3(NF1):c.2619dup (p.Lys874Ter)
|
rs1555614284
|
|
NM_001042492.3(NF1):c.2652G>A (p.Glu884=)
|
rs757843283
|
|
NM_001042492.3(NF1):c.2657A>G (p.Asn886Ser)
|
|
|
NM_001042492.3(NF1):c.2665A>G (p.Thr889Ala)
|
rs1314766383
|
|
NM_001042492.3(NF1):c.2665dup (p.Thr889fs)
|
rs886041348
|
|
NM_001042492.3(NF1):c.2674A>T (p.Ser892Cys)
|
rs746324091
|
|
NM_001042492.3(NF1):c.2674del (p.Ser892fs)
|
rs1555614296
|
|
NM_001042492.3(NF1):c.2681T>C (p.Phe894Ser)
|
rs1282493551
|
|
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro)
|
rs199474786
|
|
NM_001042492.3(NF1):c.2693TGT[1] (p.Leu899del)
|
rs1064796946
|
|
NM_001042492.3(NF1):c.269T>G (p.Leu90Arg)
|
rs1555605393
|
|
NM_001042492.3(NF1):c.2709G>A (p.Val903=)
|
rs771820789
|
|
NM_001042492.3(NF1):c.270G>C (p.Leu90=)
|
rs2065717955
|
|
NM_001042492.3(NF1):c.2722A>G (p.Lys908Glu)
|
|
|
NM_001042492.3(NF1):c.2759T>C (p.Leu920Pro)
|
rs199474775
|
|
NM_001042492.3(NF1):c.2767C>A (p.Leu923Ile)
|
rs1567849138
|
|
NM_001042492.3(NF1):c.277T>C (p.Cys93Arg)
|
rs1555605398
|
|
NM_001042492.3(NF1):c.2786T>C (p.Leu929Pro)
|
rs1555614338
|
|
NM_001042492.3(NF1):c.2791_2800del (p.Pro931fs)
|
rs1064795730
|
|
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro)
|
rs1555614342
|
|
NM_001042492.3(NF1):c.2810T>G (p.Leu937Trp)
|
rs1567849184
|
|
NM_001042492.3(NF1):c.2815_2816insG (p.Asn939fs)
|
rs2151429753
|
|
NM_001042492.3(NF1):c.281T>C (p.Leu94Pro)
|
rs1597629884
|
|
NM_001042492.3(NF1):c.281T>G (p.Leu94Arg)
|
rs1597629884
|
|
NM_001042492.3(NF1):c.2835del (p.Phe945fs)
|
rs1567849208
|
|
NM_001042492.3(NF1):c.2835dup (p.Asp946Ter)
|
rs1567849208
|
|
NM_001042492.3(NF1):c.2842C>T (p.Gln948Ter)
|
rs1567849237
|
|
NM_001042492.3(NF1):c.2848C>T (p.Gln950Ter)
|
rs1060500357
|
|
NM_001042492.3(NF1):c.2850+1G>T
|
rs1131691122
|
|
NM_001042492.3(NF1):c.2850G>A (p.Gln950=)
|
rs863224446
|
|
NM_001042492.3(NF1):c.2869A>G (p.Asn957Asp)
|
|
|
NM_001042492.3(NF1):c.2875C>T (p.Gln959Ter)
|
rs2151430537
|
|
NM_001042492.3(NF1):c.288+1G>T
|
rs1567816131
|
|
NM_001042492.3(NF1):c.288+4A>G
|
rs781459468
|
|
NM_001042492.3(NF1):c.288+5G>A
|
rs1555605409
|
|
NM_001042492.3(NF1):c.2887C>T (p.Gln963Ter)
|
rs876660444
|
|
NM_001042492.3(NF1):c.2889A>G (p.Gln963=)
|
rs1567849526
|
|
NM_001042492.3(NF1):c.288G>A (p.Gly96=)
|
rs1430988476
|
|
NM_001042492.3(NF1):c.289-1G>A
|
|
|
NM_001042492.3(NF1):c.2890del (p.Thr964fs)
|
rs1555614437
|
|
NM_001042492.3(NF1):c.2892dup (p.Ile965fs)
|
rs2067083389
|
|
NM_001042492.3(NF1):c.2894T>A (p.Ile965Lys)
|
rs1555614438
|
|
NM_001042492.3(NF1):c.289C>T (p.Gln97Ter)
|
rs1597635615
|
|
NM_001042492.3(NF1):c.2903T>G (p.Met968Arg)
|
rs199474749
|
|
NM_001042492.3(NF1):c.2910C>G (p.Asn970Lys)
|
|
|
NM_001042492.3(NF1):c.291A>G (p.Gln97=)
|
rs1555606044
|
|
NM_001042492.3(NF1):c.2921A>G (p.Asn974Ser)
|
rs557875547
|
|
NM_001042492.3(NF1):c.2953C>T (p.Gln985Ter)
|
rs1555614455
|
|
NM_001042492.3(NF1):c.2964dup (p.Glu989Ter)
|
rs2067084803
|
|
NM_001042492.3(NF1):c.2970_2971del (p.Met991fs)
|
rs1597716432
|
|
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)
|
rs267606606
|
|
NM_001042492.3(NF1):c.2975T>A (p.Met992Lys)
|
rs1567849596
|
|
NM_001042492.3(NF1):c.2975T>G (p.Met992Arg)
|
rs1567849596
|
|
NM_001042492.3(NF1):c.2978T>G (p.Leu993Ter)
|
rs1555614460
|
|
NM_001042492.3(NF1):c.2980A>T (p.Asn994Tyr)
|
rs2067085170
|
|
NM_001042492.3(NF1):c.2984T>C (p.Leu995Pro)
|
rs1597716466
|
|
NM_001042492.3(NF1):c.2989A>G (p.Arg997Gly)
|
rs2067085335
|
|
NM_001042492.3(NF1):c.2990+1G>A
|
rs1135402836
|
|
NM_001042492.3(NF1):c.2990+1G>C
|
rs1135402836
|
|
NM_001042492.3(NF1):c.2990+1G>T
|
rs1135402836
|
|
NM_001042492.3(NF1):c.2990+5G>A
|
rs1555614464
|
|
NM_001042492.3(NF1):c.2991-11T>G
|
|
|
NM_001042492.3(NF1):c.2991-1G>A
|
rs1060500273
|
|
NM_001042492.3(NF1):c.2991-1G>C
|
rs1060500273
|
|
NM_001042492.3(NF1):c.2991-2A>C
|
rs1555614495
|
|
NM_001042492.3(NF1):c.2991-2A>G
|
rs1555614495
|
|
NM_001042492.3(NF1):c.2991G>T (p.Arg997Ser)
|
rs755501749
|
|
NM_001042492.3(NF1):c.2992T>A (p.Tyr998Asn)
|
|
|
NM_001042492.3(NF1):c.2994T>A (p.Tyr998Ter)
|
|
|
NM_001042492.3(NF1):c.2998C>G (p.Arg1000Gly)
|
|
|
NM_001042492.3(NF1):c.2999G>C (p.Arg1000Pro)
|
rs753082620
|
|
NM_001042492.3(NF1):c.3002T>A (p.Val1001Glu)
|
rs1131691844
|
|
NM_001042492.3(NF1):c.3007_3008delinsTA (p.Gly1003Ter)
|
rs1597716834
|
|
NM_001042492.3(NF1):c.3025A>G (p.Ile1009Val)
|
rs1597716866
|
|
NM_001042492.3(NF1):c.3028C>T (p.Gln1010Ter)
|
rs2151431557
|
|
NM_001042492.3(NF1):c.3037del (p.Thr1013fs)
|
rs1135402838
|
|
NM_001042492.3(NF1):c.3047G>A (p.Cys1016Tyr)
|
rs2067091492
|
|
NM_001042492.3(NF1):c.3058G>T (p.Glu1020Ter)
|
rs2067091885
|
|
NM_001042492.3(NF1):c.3061G>C (p.Val1021Leu)
|
rs1597716939
|
|
NM_001042492.3(NF1):c.3078A>C (p.Arg1026Ser)
|
rs1597716965
|
|
NM_001042492.3(NF1):c.3081T>C (p.Asp1027=)
|
rs1555614532
|
|
NM_001042492.3(NF1):c.3086T>G (p.Leu1029Arg)
|
rs2067092609
|
|
NM_001042492.3(NF1):c.3088_3089dup (p.Phe1031fs)
|
rs2067092561
|
|
NM_001042492.3(NF1):c.3089C>T (p.Ser1030Leu)
|
|
|
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys)
|
rs137854553
|
|
NM_001042492.3(NF1):c.3104T>C (p.Met1035Thr)
|
rs137854553
|
|
NM_001042492.3(NF1):c.3106A>G (p.Lys1036Glu)
|
rs1567849891
|
|
NM_001042492.3(NF1):c.3106A>T (p.Lys1036Ter)
|
rs1567849891
|
|
NM_001042492.3(NF1):c.3113+1G>A
|
rs267606599
|
|
NM_001042492.3(NF1):c.3113+1G>C
|
rs267606599
|
|
NM_001042492.3(NF1):c.3113+2T>C
|
rs876658997
|
|
NM_001042492.3(NF1):c.3113+4A>C
|
|
|
NM_001042492.3(NF1):c.3113+5G>C
|
rs1555614549
|
|
NM_001042492.3(NF1):c.3114-11C>G
|
rs2151432318
|
|
NM_001042492.3(NF1):c.3114-2A>G
|
rs1428885377
|
|
NM_001042492.3(NF1):c.311T>G (p.Leu104Ter)
|
rs1057521097
|
|
NM_001042492.3(NF1):c.3137C>G (p.Thr1046Arg)
|
rs2151432404
|
|
NM_001042492.3(NF1):c.3150G>A (p.Met1050Ile)
|
rs1555614639
|
|
NM_001042492.3(NF1):c.3151G>A (p.Gly1051Arg)
|
|
|
NM_001042492.3(NF1):c.3163C>G (p.Gln1055Glu)
|
rs866069972
|
|
NM_001042492.3(NF1):c.3169G>A (p.Ala1057Thr)
|
rs1367746167
|
|
NM_001042492.3(NF1):c.3175G>A (p.Asp1059Asn)
|
rs765164994
|
|
NM_001042492.3(NF1):c.3180T>G (p.Asp1060Glu)
|
rs1555614646
|
|
NM_001042492.3(NF1):c.3187T>C (p.Cys1063Arg)
|
rs776079267
|
|
NM_001042492.3(NF1):c.3191T>G (p.Leu1064Arg)
|
|
|
NM_001042492.3(NF1):c.3197+1G>A
|
rs1555614653
|
|
NM_001042492.3(NF1):c.3197+350T>G
|
rs1235639
|
|
NM_001042492.3(NF1):c.3197+3A>T
|
rs1359512152
|
|
NM_001042492.3(NF1):c.3197+9dup
|
rs755212937
|
|
NM_001042492.3(NF1):c.3197G>A (p.Arg1066Lys)
|
rs1555614652
|
|
NM_001042492.3(NF1):c.3198-11_3198-4del
|
rs371047262
|
|
NM_001042492.3(NF1):c.3198-314G>A
|
rs2067116490
|
|
NM_001042492.3(NF1):c.3198-3_3199del
|
rs771679821
|
|
NM_001042492.3(NF1):c.3198-4del
|
rs371047262
|
|
NM_001042492.3(NF1):c.3198-4dup
|
rs371047262
|
|
NM_001042492.3(NF1):c.3198-5T>G
|
rs587782639
|
|
NM_001042492.3(NF1):c.3198-5_3198-4del
|
rs371047262
|
|
NM_001042492.3(NF1):c.3198-5_3198-4dup
|
rs371047262
|
|
NM_001042492.3(NF1):c.3198-6_3198-4del
|
rs371047262
|
|
NM_001042492.3(NF1):c.3198-6_3198-4dup
|
rs371047262
|
|
NM_001042492.3(NF1):c.3198-7_3198-4dup
|
rs371047262
|
|
NM_001042492.3(NF1):c.319del (p.Thr107fs)
|
rs1131691116
|
|
NM_001042492.3(NF1):c.3200A>T (p.Asp1067Val)
|
rs746785904
|
|
NM_001042492.3(NF1):c.320C>T (p.Thr107Met)
|
rs1567817857
|
|
NM_001042492.3(NF1):c.3212C>T (p.Ala1071Val)
|
rs2151433685
|
|
NM_001042492.3(NF1):c.3216C>G (p.Ser1072Arg)
|
rs1567850647
|
|
NM_001042492.3(NF1):c.3222_3223del (p.Glu1074fs)
|
rs2067122558
|
|
NM_001042492.3(NF1):c.3239T>C (p.Leu1080Pro)
|
rs1555614833
|
|
NM_001042492.3(NF1):c.3250C>G (p.Pro1084Ala)
|
rs1555614848
|
|
NM_001042492.3(NF1):c.3251C>G (p.Pro1084Arg)
|
rs1164081667
|
|
NM_001042492.3(NF1):c.3254T>G (p.Leu1085Arg)
|
rs1555614849
|
|
NM_001042492.3(NF1):c.3256C>T (p.Gln1086Ter)
|
rs2067123355
|
|
NM_001042492.3(NF1):c.3261dup (p.Glu1088Ter)
|
rs1555614851
|
|
NM_001042492.3(NF1):c.3264A>C (p.Glu1088Asp)
|
|
|
NM_001042492.3(NF1):c.3279G>A (p.Val1093=)
|
rs769134583
|
|
NM_001042492.3(NF1):c.3295A>G (p.Lys1099Glu)
|
|
|
NM_001042492.3(NF1):c.3296A>C (p.Lys1099Thr)
|
rs2151433877
|
|
NM_001042492.3(NF1):c.3301_3302del (p.Gln1101fs)
|
rs1555614866
|
|
NM_001042492.3(NF1):c.3302A>C (p.Gln1101Pro)
|
|
|
NM_001042492.3(NF1):c.3311T>G (p.Leu1104Arg)
|
|
|
NM_001042492.3(NF1):c.3314+157del
|
rs17881842
|
|
NM_001042492.3(NF1):c.3315-10_3335del
|
rs2151434411
|
|
NM_001042492.3(NF1):c.3317A>G (p.Tyr1106Cys)
|
rs1567850987
|
|
NM_001042492.3(NF1):c.3347_3350del (p.Asp1116fs)
|
rs2067134697
|
|
NM_001042492.3(NF1):c.3349T>G (p.Cys1117Gly)
|
|
|
NM_001042492.3(NF1):c.3375G>A (p.Ala1125=)
|
rs112589561
|
|
NM_001042492.3(NF1):c.3376C>T (p.Gln1126Ter)
|
rs1555614947
|
|
NM_001042492.3(NF1):c.3383G>A (p.Gly1128Asp)
|
rs1060500325
|
|
NM_001042492.3(NF1):c.338del (p.Leu113fs)
|
rs1597635740
|
|
NM_001042492.3(NF1):c.339del (p.Leu113fs)
|
rs1597635745
|
|
NM_001042492.3(NF1):c.3407G>A (p.Arg1136Gln)
|
rs868407539
|
|
NM_001042492.3(NF1):c.3428A>G (p.His1143Arg)
|
rs1555614965
|
|
NM_001042492.3(NF1):c.3437T>A (p.Val1146Asp)
|
rs2067137147
|
|
NM_001042492.3(NF1):c.3440T>C (p.Leu1147Pro)
|
rs199474779
|
|
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val)
|
rs1187097568
|
|
NM_001042492.3(NF1):c.3447G>A (p.Met1149Ile)
|
rs1064794277
|
|
NM_001042492.3(NF1):c.3447G>C (p.Met1149Ile)
|
rs1064794277
|
|
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile)
|
rs1064794277
|
|
NM_001042492.3(NF1):c.3449C>G (p.Ser1150Ter)
|
rs1555614972
|
|
NM_001042492.3(NF1):c.3449C>T (p.Ser1150Leu)
|
rs1555614972
|
|
NM_001042492.3(NF1):c.3455T>C (p.Leu1152Ser)
|
|
|
NM_001042492.3(NF1):c.3456dup (p.Leu1153fs)
|
rs1430634618
|
|
NM_001042492.3(NF1):c.3457C>T (p.Leu1153Phe)
|
rs2151434781
|
|
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs)
|
rs1321848637
|
|
NM_001042492.3(NF1):c.3461A>T (p.Asn1154Ile)
|
rs371544233
|
|
NM_001042492.3(NF1):c.3463G>A (p.Ala1155Thr)
|
|
|
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser)
|
rs199474764
|
|
NM_001042492.3(NF1):c.3470T>C (p.Val1157Ala)
|
rs2151434814
|
|
NM_001042492.3(NF1):c.3495A>G (p.Ile1165Met)
|
rs876660814
|
|
NM_001042492.3(NF1):c.3496+1G>A
|
rs2067138719
|
|
NM_001042492.3(NF1):c.3496+1G>C
|
rs2067138719
|
|
NM_001042492.3(NF1):c.3496+5G>A
|
rs786202564
|
|
NM_001042492.3(NF1):c.3497-12T>A
|
rs753605564
|
|
NM_001042492.3(NF1):c.3497G>A (p.Gly1166Asp)
|
rs199474787
|
|
NM_001042492.3(NF1):c.350T>G (p.Ile117Ser)
|
rs199474731
|
|
NM_001042492.3(NF1):c.3515A>G (p.Asp1172Gly)
|
rs1555615017
|
|
NM_001042492.3(NF1):c.3520C>T (p.Gln1174Ter)
|
rs868450405
|
|
NM_001042492.3(NF1):c.3525_3526del (p.Arg1176fs)
|
rs1131691092
|
|
NM_001042492.3(NF1):c.3538A>G (p.Met1180Val)
|
rs786203658
|
|
NM_001042492.3(NF1):c.3544G>C (p.Val1182Leu)
|
rs1555615027
|
|
NM_001042492.3(NF1):c.3544G>T (p.Val1182Phe)
|
rs1555615027
|
|
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala)
|
rs2067142076
|
|
NM_001042492.3(NF1):c.3545T>G (p.Val1182Gly)
|
|
|
NM_001042492.3(NF1):c.3557_3561del (p.Ile1186fs)
|
rs2151435421
|
|
NM_001042492.3(NF1):c.3563A>C (p.Gln1188Pro)
|
rs758419553
|
|
NM_001042492.3(NF1):c.3568G>A (p.Gly1190Ser)
|
rs1597719982
|
|
NM_001042492.3(NF1):c.356A>G (p.His119Arg)
|
rs150080742
|
|
NM_001042492.3(NF1):c.3571A>T (p.Thr1191Ser)
|
rs1555615033
|
|
NM_001042492.3(NF1):c.3578T>G (p.Phe1193Cys)
|
rs199474780
|
|
NM_001042492.3(NF1):c.3582C>G (p.Asp1194Glu)
|
rs1555615036
|
|
NM_001042492.3(NF1):c.3586C>G (p.Leu1196Val)
|
rs1555615039
|
|
NM_001042492.3(NF1):c.3587T>G (p.Leu1196Arg)
|
rs199474741
|
|
NM_001042492.3(NF1):c.3595A>G (p.Thr1199Ala)
|
rs1453504440
|
|
NM_001042492.3(NF1):c.3596C>T (p.Thr1199Ile)
|
rs1555615047
|
|
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly)
|
rs199474732
|
|
NM_001042492.3(NF1):c.3611G>A (p.Arg1204Gln)
|
rs1057521848
|
|
NM_001042492.3(NF1):c.3611G>T (p.Arg1204Leu)
|
rs1057521848
|
|
NM_001042492.3(NF1):c.3623T>C (p.Leu1208Ser)
|
rs1060500374
|
|
NM_001042492.3(NF1):c.3625G>C (p.Val1209Leu)
|
rs1458579232
|
|
NM_001042492.3(NF1):c.3639_3641del (p.Met1215del)
|
rs1060500276
|
|
NM_001042492.3(NF1):c.3641T>A (p.Met1214Lys)
|
rs1567851416
|
|
NM_001042492.3(NF1):c.3644T>A (p.Met1215Lys)
|
|
|
NM_001042492.3(NF1):c.3646G>T (p.Gly1216Cys)
|
rs1567851424
|
|
NM_001042492.3(NF1):c.3652C>T (p.Gln1218Ter)
|
|
|
NM_001042492.3(NF1):c.3653A>C (p.Gln1218Pro)
|
rs876659541
|
|
NM_001042492.3(NF1):c.3662T>G (p.Leu1221Arg)
|
rs1597720167
|
|
NM_001042492.3(NF1):c.3665del (p.Pro1222fs)
|
rs867391752
|
|
NM_001042492.3(NF1):c.3671C>T (p.Ala1224Val)
|
rs1060500340
|
|
NM_001042492.3(NF1):c.3673A>G (p.Met1225Val)
|
rs770837892
|
|
NM_001042492.3(NF1):c.3677dup (p.Leu1227fs)
|
rs1567851501
|
|
NM_001042492.3(NF1):c.3690G>A (p.Val1230=)
|
rs183296277
|
|
NM_001042492.3(NF1):c.3693del (p.Pro1232fs)
|
|
|
NM_001042492.3(NF1):c.3703C>T (p.Gln1235Ter)
|
rs1555615109
|
|
NM_001042492.3(NF1):c.3706T>C (p.Trp1236Arg)
|
rs1555615111
|
|
NM_001042492.3(NF1):c.3708+2T>C
|
|
|
NM_001042492.3(NF1):c.3708+5G>A
|
rs1597720280
|
|
NM_001042492.3(NF1):c.3708G>A (p.Trp1236Ter)
|
rs2067145586
|
|
NM_001042492.3(NF1):c.3709-984C>T
|
|
|
NM_001042492.3(NF1):c.3712G>A (p.Glu1238Lys)
|
|
|
NM_001042492.3(NF1):c.3713A>C (p.Glu1238Ala)
|
rs2151437710
|
|
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter)
|
rs137854562
|
|
NM_001042492.3(NF1):c.3728T>C (p.Leu1243Pro)
|
rs137854564
|
|
NM_001042492.3(NF1):c.372_373insTT (p.Arg125fs)
|
rs1555606080
|
|
NM_001042492.3(NF1):c.3734C>G (p.Thr1245Ser)
|
rs1363534157
|
|
NM_001042492.3(NF1):c.3737dup (p.Phe1247fs)
|
rs1555615445
|
|
NM_001042492.3(NF1):c.3739_3742del (p.Phe1247fs)
|
rs1064794276
|
|
NM_001042492.3(NF1):c.3749G>C (p.Arg1250Pro)
|
rs199474765
|
|
NM_001042492.3(NF1):c.374G>C (p.Arg125Pro)
|
|
|
NM_001042492.3(NF1):c.3755delinsAG (p.Leu1252Ter)
|
|
|
NM_001042492.3(NF1):c.3756A>G (p.Leu1252=)
|
rs1298630862
|
|
NM_001042492.3(NF1):c.3763C>T (p.Gln1255Ter)
|
rs1060500308
|
|
NM_001042492.3(NF1):c.3765A>T (p.Gln1255His)
|
rs766896025
|
|
NM_001042492.3(NF1):c.3772T>C (p.Trp1258Arg)
|
rs1597722508
|
|
NM_001042492.3(NF1):c.3773G>T (p.Trp1258Leu)
|
rs1555615458
|
|
NM_001042492.3(NF1):c.3790G>A (p.Glu1264Lys)
|
rs863224660
|
|
NM_001042492.3(NF1):c.3808T>C (p.Ser1270Pro)
|
rs1597722567
|
|
NM_001042492.3(NF1):c.3810_3820del (p.Met1271fs)
|
rs2067188114
|
|
NM_001042492.3(NF1):c.3812T>C (p.Met1271Thr)
|
rs876659801
|
|
NM_001042492.3(NF1):c.3814C>A (p.Gln1272Lys)
|
rs2067188361
|
|
NM_001042492.3(NF1):c.3814C>T (p.Gln1272Ter)
|
rs2067188361
|
|
NM_001042492.3(NF1):c.3820_3823del (p.Leu1274fs)
|
|
|
NM_001042492.3(NF1):c.3822_3823del (p.Phe1275fs)
|
rs1555615472
|
|
NM_001042492.3(NF1):c.3824del (p.Phe1275fs)
|
|
|
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly)
|
rs199474742
|
|
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.3831C>T (p.Gly1277=)
|
rs1597722611
|
|
NM_001042492.3(NF1):c.3834C>G (p.Asn1278Lys)
|
rs1135402850
|
|
NM_001042492.3(NF1):c.3841G>A (p.Ala1281Thr)
|
rs2151438011
|
|
NM_001042492.3(NF1):c.3842C>G (p.Ala1281Gly)
|
rs1060500341
|
|
NM_001042492.3(NF1):c.3850del (p.Lys1283_Ile1284insTer)
|
|
|
NM_001042492.3(NF1):c.3851del (p.Ile1284fs)
|
|
|
NM_001042492.3(NF1):c.3855G>C (p.Met1285Ile)
|
rs2067189497
|
|
NM_001042492.3(NF1):c.3866T>G (p.Phe1289Cys)
|
rs2151438065
|
|
NM_001042492.3(NF1):c.3867C>G (p.Phe1289Leu)
|
rs138186428
|
|
NM_001042492.3(NF1):c.3870+1G>A
|
rs1131691075
|
|
NM_001042492.3(NF1):c.3870+1G>C
|
rs1131691075
|
|
NM_001042492.3(NF1):c.3875A>G (p.Tyr1292Cys)
|
rs1060500243
|
|
NM_001042492.3(NF1):c.3877G>A (p.Gly1293Ser)
|
|
|
NM_001042492.3(NF1):c.387G>A (p.Gln129=)
|
rs1390215440
|
|
NM_001042492.3(NF1):c.387G>C (p.Gln129His)
|
rs1390215440
|
|
NM_001042492.3(NF1):c.3888T>G (p.Tyr1296Ter)
|
rs2151438526
|
|
NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter)
|
rs2067193761
|
|
NM_001042492.3(NF1):c.3911T>A (p.Leu1304Ter)
|
rs761512189
|
|
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)
|
rs376576925
|
|
NM_001042492.3(NF1):c.392C>T (p.Ala131Val)
|
rs1567817930
|
|
NM_001042492.3(NF1):c.3942G>A (p.Trp1314Ter)
|
rs2067194816
|
|
NM_001042492.3(NF1):c.3973A>G (p.Arg1325Gly)
|
rs2151438704
|
|
NM_001042492.3(NF1):c.3974+1G>A
|
rs1567852849
|
|
NM_001042492.3(NF1):c.3974+1G>C
|
rs1567852849
|
|
NM_001042492.3(NF1):c.3974+260T>G
|
rs1567853044
|
|
NM_001042492.3(NF1):c.3974+34_3974+35dup
|
|
|
NM_001042492.3(NF1):c.3974+37_3974+38insG
|
rs1555615580
|
|
NM_001042492.3(NF1):c.3974+601del
|
rs60376313
|
|
NM_001042492.3(NF1):c.3975-2A>G
|
rs864622431
|
|
NM_001042492.3(NF1):c.3975G>T (p.Arg1325Ser)
|
rs1597734999
|
|
NM_001042492.3(NF1):c.3998A>G (p.Glu1333Gly)
|
rs200618072
|
|
NM_001042492.3(NF1):c.4000G>A (p.Glu1334Lys)
|
rs878853892
|
|
NM_001042492.3(NF1):c.4000G>T (p.Glu1334Ter)
|
rs878853892
|
|
NM_001042492.3(NF1):c.4010G>A (p.Arg1337Gln)
|
rs1060500379
|
|
NM_001042492.3(NF1):c.4016T>C (p.Leu1339Pro)
|
rs1567858306
|
|
NM_001042492.3(NF1):c.4016T>G (p.Leu1339Arg)
|
rs1567858306
|
|
NM_001042492.3(NF1):c.4018C>T (p.Leu1340Phe)
|
rs876658268
|
|
NM_001042492.3(NF1):c.4021C>T (p.Gln1341Ter)
|
rs137854559
|
|
NM_001042492.3(NF1):c.4028C>G (p.Thr1343Ser)
|
rs2151451433
|
|
NM_001042492.3(NF1):c.4045G>A (p.Ala1349Thr)
|
rs1555617332
|
|
NM_001042492.3(NF1):c.4048A>G (p.Ile1350Val)
|
rs1567858357
|
|
NM_001042492.3(NF1):c.4051A>T (p.Ile1351Phe)
|
|
|
NM_001042492.3(NF1):c.4058C>T (p.Ser1353Phe)
|
rs1555617346
|
|
NM_001042492.3(NF1):c.4062C>T (p.Ser1354=)
|
rs1597735169
|
|
NM_001042492.3(NF1):c.4072C>T (p.Pro1358Ser)
|
rs1555617359
|
|
NM_001042492.3(NF1):c.4076del (p.Pro1359fs)
|
rs1135402852
|
|
NM_001042492.3(NF1):c.4076dup (p.Gln1360fs)
|
rs1135402852
|
|
NM_001042492.3(NF1):c.4078C>T (p.Gln1360Ter)
|
rs1555617368
|
|
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter)
|
rs137854560
|
|
NM_001042492.3(NF1):c.4095C>T (p.Cys1365=)
|
rs1060503922
|
|
NM_001042492.3(NF1):c.4103T>C (p.Leu1368Ser)
|
rs1597735265
|
|
NM_001042492.3(NF1):c.4109del (p.Gln1370fs)
|
rs2151451681
|
|
NM_001042492.3(NF1):c.4110+1G>A
|
rs1555617383
|
|
NM_001042492.3(NF1):c.4110+1G>C
|
rs1555617383
|
|
NM_001042492.3(NF1):c.4110+1G>T
|
rs1555617383
|
|
NM_001042492.3(NF1):c.4110+3A>C
|
rs774669878
|
|
NM_001042492.3(NF1):c.4110+4T>A
|
rs587781700
|
|
NM_001042492.3(NF1):c.412G>C (p.Ala138Pro)
|
rs1597635936
|
|
NM_001042492.3(NF1):c.415T>C (p.Ser139Pro)
|
rs1555606096
|
|
NM_001042492.3(NF1):c.415T>G (p.Ser139Ala)
|
rs1555606096
|
|
NM_001042492.3(NF1):c.4174-8_4174-6del
|
rs751729752
|
|
NM_001042492.3(NF1):c.4200C>T (p.Asn1400=)
|
rs2151461842
|
|
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly)
|
rs587781755
|
|
NM_001042492.3(NF1):c.4227G>A (p.Met1409Ile)
|
rs786201895
|
|
NM_001042492.3(NF1):c.422_437del (p.Val141fs)
|
rs1555606098
|
|
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe)
|
rs199474789
|
|
NM_001042492.3(NF1):c.4234A>G (p.Arg1412Gly)
|
rs1555618515
|
|
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser)
|
rs137854554
|
|
NM_001042492.3(NF1):c.4241T>G (p.Ile1414Ser)
|
rs2151461968
|
|
NM_001042492.3(NF1):c.4243A>C (p.Asn1415His)
|
rs1555618518
|
|
NM_001042492.3(NF1):c.4247C>A (p.Pro1416His)
|
rs1555618521
|
|
NM_001042492.3(NF1):c.4247C>T (p.Pro1416Leu)
|
rs1555618521
|
|
NM_001042492.3(NF1):c.4260_4261del (p.Pro1421fs)
|
rs1555618536
|
|
NM_001042492.3(NF1):c.4262C>G (p.Pro1421Arg)
|
rs753997885
|
|
NM_001042492.3(NF1):c.4264T>C (p.Tyr1422His)
|
rs17884349
|
|
NM_001042492.3(NF1):c.426_437del (p.Leu142_Ser146delinsPhe)
|
rs2143673002
|
|
NM_001042492.3(NF1):c.4271C>A (p.Ala1424Glu)
|
rs2067623060
|
|
NM_001042492.3(NF1):c.427T>A (p.Phe143Ile)
|
|
|
NM_001042492.3(NF1):c.4290_4291delinsCT (p.Lys1430_Pro1431delinsAsnSer)
|
rs1567862024
|
|
NM_001042492.3(NF1):c.4298C>T (p.Pro1433Leu)
|
|
|
NM_001042492.3(NF1):c.4299dup (p.Arg1434Ter)
|
|
|
NM_001042492.3(NF1):c.4306G>T (p.Glu1436Ter)
|
rs876660428
|
|
NM_001042492.3(NF1):c.4315T>A (p.Leu1439Met)
|
rs1555618562
|
|
NM_001042492.3(NF1):c.4316T>C (p.Leu1439Ser)
|
rs1567862071
|
|
NM_001042492.3(NF1):c.4318A>C (p.Lys1440Gln)
|
rs199474790
|
|
NM_001042492.3(NF1):c.4319A>G (p.Lys1440Arg)
|
rs199474788
|
|
NM_001042492.3(NF1):c.4325T>G (p.Met1442Arg)
|
rs1131691097
|
|
NM_001042492.3(NF1):c.4328C>T (p.Ser1443Leu)
|
rs1555618566
|
|
NM_001042492.3(NF1):c.4330A>C (p.Lys1444Gln)
|
rs137854550
|
|
NM_001042492.3(NF1):c.4331A>G (p.Lys1444Arg)
|
rs199474781
|
|
NM_001042492.3(NF1):c.4332+1G>T
|
rs1555618572
|
|
NM_001042492.3(NF1):c.4332+22_4332+25del
|
rs768273651
|
|
NM_001042492.3(NF1):c.4332+2T>C
|
rs786204207
|
|
NM_001042492.3(NF1):c.4332+2T>G
|
|
|
NM_001042492.3(NF1):c.4332G>A (p.Lys1444=)
|
rs199474750
|
|
NM_001042492.3(NF1):c.4332G>T (p.Lys1444Asn)
|
rs199474750
|
|
NM_001042492.3(NF1):c.4333-230A>G
|
|
|
NM_001042492.3(NF1):c.4333-2A>G
|
rs1555618634
|
|
NM_001042492.3(NF1):c.4333-2del
|
rs886041630
|
|
NM_001042492.3(NF1):c.4337T>C (p.Leu1446Pro)
|
rs199474733
|
|
NM_001042492.3(NF1):c.4338del (p.Gln1447fs)
|
rs2067635690
|
|
NM_001042492.3(NF1):c.4339C>G (p.Gln1447Glu)
|
rs1135402857
|
|
NM_001042492.3(NF1):c.4341G>C (p.Gln1447His)
|
rs876660206
|
|
NM_001042492.3(NF1):c.4348G>T (p.Ala1450Ser)
|
|
|
NM_001042492.3(NF1):c.434T>C (p.Leu145Pro)
|
rs199474734
|
|
NM_001042492.3(NF1):c.4352A>C (p.Asn1451Thr)
|
rs199474754
|
|
NM_001042492.3(NF1):c.4352A>T (p.Asn1451Ile)
|
rs199474754
|
|
NM_001042492.3(NF1):c.4355A>G (p.His1452Arg)
|
rs1567862291
|
|
NM_001042492.3(NF1):c.4357G>C (p.Val1453Leu)
|
rs199474755
|
|
NM_001042492.3(NF1):c.4360C>G (p.Leu1454Val)
|
rs1408832954
|
|
NM_001042492.3(NF1):c.4360C>T (p.Leu1454Phe)
|
rs1408832954
|
|
NM_001042492.3(NF1):c.4369A>C (p.Lys1457Gln)
|
rs878853893
|
|
NM_001042492.3(NF1):c.4369A>G (p.Lys1457Glu)
|
rs878853893
|
|
NM_001042492.3(NF1):c.4369_4371del (p.Lys1457del)
|
rs1555618653
|
|
NM_001042492.3(NF1):c.4371del (p.Glu1458fs)
|
|
|
NM_001042492.3(NF1):c.4372G>T (p.Glu1458Ter)
|
rs1135402858
|
|
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del)
|
rs267606607
|
|
NM_001042492.3(NF1):c.4373A>T (p.Glu1458Val)
|
|
|
NM_001042492.3(NF1):c.4378C>T (p.His1460Tyr)
|
rs377295676
|
|
NM_001042492.3(NF1):c.4380dup (p.Met1461fs)
|
rs886041435
|
|
NM_001042492.3(NF1):c.4382T>A (p.Met1461Lys)
|
rs754639587
|
|
NM_001042492.3(NF1):c.4382T>G (p.Met1461Arg)
|
rs754639587
|
|
NM_001042492.3(NF1):c.4383G>A (p.Met1461Ile)
|
rs1555618677
|
|
NM_001042492.3(NF1):c.4405A>T (p.Lys1469Ter)
|
rs1567862353
|
|
NM_001042492.3(NF1):c.4406_4418del (p.Lys1469fs)
|
rs1567862349
|
|
NM_001042492.3(NF1):c.4412A>G (p.Asn1471Ser)
|
rs876658250
|
|
NM_001042492.3(NF1):c.4430+1G>A
|
rs773151680
|
|
NM_001042492.3(NF1):c.4430+2T>G
|
rs1555618693
|
|
NM_001042492.3(NF1):c.4430G>C (p.Arg1477Thr)
|
rs1060500293
|
|
NM_001042492.3(NF1):c.4436dup (p.Leu1480fs)
|
rs1555618803
|
|
NM_001042492.3(NF1):c.4444dup (p.Ile1482fs)
|
rs2151464529
|
|
NM_001042492.3(NF1):c.4451C>T (p.Ser1484Phe)
|
rs199474772
|
|
NM_001042492.3(NF1):c.4462A>G (p.Thr1488Ala)
|
rs876660162
|
|
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly)
|
rs199474743
|
|
NM_001042492.3(NF1):c.446A>G (p.Asn149Ser)
|
rs2143673370
|
|
NM_001042492.3(NF1):c.4481A>T (p.His1494Leu)
|
rs769417700
|
|
NM_001042492.3(NF1):c.4490C>A (p.Ser1497Tyr)
|
|
|
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His)
|
rs1555618837
|
|
NM_001042492.3(NF1):c.4520T>C (p.Leu1507Ser)
|
rs1135402863
|
|
NM_001042492.3(NF1):c.4532T>C (p.Leu1511Pro)
|
rs1135402864
|
|
NM_001042492.3(NF1):c.4535G>A (p.Trp1512Ter)
|
rs1267947462
|
|
NM_001042492.3(NF1):c.4536G>A (p.Trp1512Ter)
|
rs878853897
|
|
NM_001042492.3(NF1):c.4536G>C (p.Trp1512Cys)
|
rs878853897
|
|
NM_001042492.3(NF1):c.4544A>G (p.Gln1515Arg)
|
rs1135402865
|
|
NM_001042492.3(NF1):c.454G>A (p.Ala152Thr)
|
rs2065795636
|
|
NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu)
|
rs1567863004
|
|
NM_001042492.3(NF1):c.4557del (p.Gln1520fs)
|
|
|
NM_001042492.3(NF1):c.4567dup (p.Ser1523fs)
|
rs2067665969
|
|
NM_001042492.3(NF1):c.456A>C (p.Ala152=)
|
rs377481833
|
|
NM_001042492.3(NF1):c.4571_4572delinsAA (p.Ser1524Lys)
|
rs1555618860
|
|
NM_001042492.3(NF1):c.4577+1G>A
|
rs1279529138
|
|
NM_001042492.3(NF1):c.4577+2dup
|
rs2067666266
|
|
NM_001042492.3(NF1):c.4578-11_4578-10del
|
|
|
NM_001042492.3(NF1):c.4578-19A>G
|
rs1555618994
|
|
NM_001042492.3(NF1):c.4578-1G>C
|
rs1555618999
|
|
NM_001042492.3(NF1):c.4578-31_4578-30insAGGGAAA
|
|
|
NM_001042492.3(NF1):c.458T>A (p.Val153Asp)
|
rs2143673698
|
|
NM_001042492.3(NF1):c.4597A>T (p.Arg1533Ter)
|
rs1064796633
|
|
NM_001042492.3(NF1):c.4599A>G (p.Arg1533=)
|
rs1597748710
|
|
NM_001042492.3(NF1):c.4604_4606del (p.Pro1535_Phe1536delinsLeu)
|
|
|
NM_001042492.3(NF1):c.4608del (p.Phe1536fs)
|
rs2151466252
|
|
NM_001042492.3(NF1):c.460T>C (p.Phe154Leu)
|
|
|
NM_001042492.3(NF1):c.4618G>A (p.Ala1540Thr)
|
rs2151466274
|
|
NM_001042492.3(NF1):c.4619C>A (p.Ala1540Glu)
|
rs2151466279
|
|
NM_001042492.3(NF1):c.4622C>T (p.Thr1541Ile)
|
rs2151466288
|
|
NM_001042492.3(NF1):c.4624C>G (p.Leu1542Val)
|
rs1555619011
|
|
NM_001042492.3(NF1):c.4626T>C (p.Leu1542=)
|
rs1555619012
|
|
NM_001042492.3(NF1):c.4627C>T (p.Leu1543Phe)
|
rs2151466305
|
|
NM_001042492.3(NF1):c.4631C>A (p.Ala1544Glu)
|
rs1555619015
|
|
NM_001042492.3(NF1):c.4635C>G (p.Tyr1545Ter)
|
rs754023358
|
|
NM_001042492.3(NF1):c.463A>T (p.Ser155Cys)
|
rs1272106481
|
|
NM_001042492.3(NF1):c.4640del (p.Gly1547fs)
|
rs2067690686
|
|
NM_001042492.3(NF1):c.4647A>G (p.Pro1549=)
|
rs1305841472
|
|
NM_001042492.3(NF1):c.4669dup (p.Thr1557fs)
|
rs1555619033
|
|
NM_001042492.3(NF1):c.466C>T (p.Arg156Cys)
|
rs755890242
|
|
NM_001042492.3(NF1):c.4672C>T (p.His1558Tyr)
|
rs1468638747
|
|
NM_001042492.3(NF1):c.4676G>A (p.Trp1559Ter)
|
rs2067691658
|
|
NM_001042492.3(NF1):c.4677G>A (p.Trp1559Ter)
|
rs137854555
|
|
NM_001042492.3(NF1):c.467G>T (p.Arg156Leu)
|
rs754096545
|
|
NM_001042492.3(NF1):c.4684del (p.Asn1563fs)
|
rs1555619041
|
|
NM_001042492.3(NF1):c.4700C>A (p.Ser1567Ter)
|
rs1555619051
|
|
NM_001042492.3(NF1):c.4700C>G (p.Ser1567Ter)
|
rs1555619051
|
|
NM_001042492.3(NF1):c.470T>A (p.Ile157Asn)
|
rs199474744
|
|
NM_001042492.3(NF1):c.4721C>T (p.Thr1574Ile)
|
rs1567863650
|
|
NM_001042492.3(NF1):c.4724+1102A>C
|
|
|
NM_001042492.3(NF1):c.4724G>C (p.Arg1575Thr)
|
rs2151466553
|
|
NM_001042492.3(NF1):c.4725-1G>A
|
rs1555619391
|
|
NM_001042492.3(NF1):c.4768T>G (p.Leu1590Val)
|
rs1567865010
|
|
NM_001042492.3(NF1):c.476C>T (p.Thr159Ile)
|
|
|
NM_001042492.3(NF1):c.4772G>A (p.Ser1591Asn)
|
rs1597753246
|
|
NM_001042492.3(NF1):c.4779C>A (p.Phe1593Leu)
|
rs2151470179
|
|
NM_001042492.3(NF1):c.4787C>G (p.Ala1596Gly)
|
rs1567865042
|
|
NM_001042492.3(NF1):c.478A>G (p.Arg160Gly)
|
rs1555606128
|
|
NM_001042492.3(NF1):c.479+1G>A
|
rs1555606137
|
|
NM_001042492.3(NF1):c.479+1G>T
|
rs1555606137
|
|
NM_001042492.3(NF1):c.479+5G>A
|
rs1567818033
|
|
NM_001042492.3(NF1):c.479+6T>C
|
rs1567818036
|
|
NM_001042492.3(NF1):c.4791dup (p.Thr1598fs)
|
rs1253123816
|
|
NM_001042492.3(NF1):c.4796C>A (p.Ser1599Tyr)
|
rs1555619407
|
|
NM_001042492.3(NF1):c.4798A>T (p.Lys1600Ter)
|
rs1567865056
|
|
NM_001042492.3(NF1):c.479G>C (p.Arg160Thr)
|
rs199474752
|
|
NM_001042492.3(NF1):c.480-2A>G
|
rs1567820688
|
|
NM_001042492.3(NF1):c.4804G>A (p.Gly1602Arg)
|
rs878853898
|
|
NM_001042492.3(NF1):c.480G>A (p.Arg160=)
|
rs1555607071
|
|
NM_001042492.3(NF1):c.4812_4814delinsA (p.Ile1605fs)
|
|
|
NM_001042492.3(NF1):c.4819TAT[1] (p.Tyr1608del)
|
|
|
NM_001042492.3(NF1):c.4819del (p.Tyr1607fs)
|
rs876658492
|
|
NM_001042492.3(NF1):c.4824T>A (p.Tyr1608Ter)
|
rs1567865089
|
|
NM_001042492.3(NF1):c.482T>C (p.Leu161Ser)
|
|
|
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp)
|
rs1060500316
|
|
NM_001042492.3(NF1):c.4832G>A (p.Arg1611Gln)
|
rs876659197
|
|
NM_001042492.3(NF1):c.4834A>G (p.Arg1612Gly)
|
rs755137259
|
|
NM_001042492.3(NF1):c.4835+1G>T
|
rs1085307819
|
|
NM_001042492.3(NF1):c.4835G>C (p.Arg1612Thr)
|
rs1555619423
|
|
NM_001042492.3(NF1):c.4836-11382_4836-11381del
|
|
|
NM_001042492.3(NF1):c.4836-11A>G
|
rs1437937029
|
|
NM_001042492.3(NF1):c.4836-1G>A
|
rs1057518326
|
|
NM_001042492.3(NF1):c.4836-2A>C
|
rs1555533265
|
|
NM_001042492.3(NF1):c.4836-2A>T
|
rs1555533265
|
|
NM_001042492.3(NF1):c.4836-5C>T
|
rs1340222766
|
|
NM_001042492.3(NF1):c.4836-6C>T
|
rs1311255132
|
|
NM_001042492.3(NF1):c.4847G>A (p.Gly1616Asp)
|
rs1597829516
|
|
NM_001042492.3(NF1):c.484C>T (p.Gln162Ter)
|
rs1555607073
|
|
NM_001042492.3(NF1):c.4868T>C (p.Leu1623Pro)
|
rs2151537585
|
|
NM_001042492.3(NF1):c.4877A>C (p.His1626Pro)
|
|
|
NM_001042492.3(NF1):c.487G>T (p.Glu163Ter)
|
rs2065903080
|
|
NM_001042492.3(NF1):c.4880T>A (p.Val1627Asp)
|
rs1567611231
|
|
NM_001042492.3(NF1):c.4892T>C (p.Leu1631Ser)
|
rs1555533292
|
|
NM_001042492.3(NF1):c.491T>G (p.Leu164Ter)
|
|
|
NM_001042492.3(NF1):c.4924G>A (p.Val1642Ile)
|
rs2151537778
|
|
NM_001042492.3(NF1):c.4933C>G (p.Leu1645Val)
|
rs2069328058
|
|
NM_001042492.3(NF1):c.4934T>G (p.Leu1645Arg)
|
rs1555533305
|
|
NM_001042492.3(NF1):c.4940A>C (p.His1647Pro)
|
rs1555533307
|
|
NM_001042492.3(NF1):c.4947del (p.Pro1650fs)
|
rs2151537841
|
|
NM_001042492.3(NF1):c.494C>G (p.Thr165Ser)
|
rs876660009
|
|
NM_001042492.3(NF1):c.496_497del (p.Val166fs)
|
rs1135402788
|
|
NM_001042492.3(NF1):c.4973_4974del (p.Phe1658fs)
|
rs2069329470
|
|
NM_001042492.3(NF1):c.4977_4980del (p.Lys1661fs)
|
rs1085307459
|
|
NM_001042492.3(NF1):c.4980dup (p.Lys1661Ter)
|
rs2069329774
|
|
NM_001042492.3(NF1):c.4986G>A (p.Trp1662Ter)
|
rs2151538007
|
|
NM_001042492.3(NF1):c.4998del (p.Pro1667fs)
|
rs1135402867
|
|
NM_001042492.3(NF1):c.499_502del (p.Cys167fs)
|
rs786201874
|
|
NM_001042492.3(NF1):c.5013C>G (p.Tyr1671Ter)
|
rs1060500255
|
|
NM_001042492.3(NF1):c.5018A>G (p.Asn1673Ser)
|
rs1201910133
|
|
NM_001042492.3(NF1):c.5033A>C (p.Tyr1678Ser)
|
rs1555533347
|
|
NM_001042492.3(NF1):c.5033A>G (p.Tyr1678Cys)
|
rs1555533347
|
|
NM_001042492.3(NF1):c.5037C>G (p.Ile1679Met)
|
rs1555533349
|
|
NM_001042492.3(NF1):c.5037_5040del (p.Tyr1680fs)
|
|
|
NM_001042492.3(NF1):c.5039A>G (p.Tyr1680Cys)
|
rs758361270
|
|
NM_001042492.3(NF1):c.503C>A (p.Ser168Ter)
|
|
|
NM_001042492.3(NF1):c.503C>G (p.Ser168Ter)
|
rs1131691994
|
|
NM_001042492.3(NF1):c.5044T>C (p.Cys1682Arg)
|
rs1597829901
|
|
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer)
|
rs1597829906
|
|
NM_001042492.3(NF1):c.5067C>A (p.Tyr1689Ter)
|
rs756708811
|
|
NM_001042492.3(NF1):c.5068A>C (p.Thr1690Pro)
|
rs2069332520
|
|
NM_001042492.3(NF1):c.5072A>G (p.Lys1691Arg)
|
rs863224661
|
|
NM_001042492.3(NF1):c.5075A>G (p.Tyr1692Cys)
|
|
|
NM_001042492.3(NF1):c.5078A>G (p.His1693Arg)
|
rs2151538392
|
|
NM_001042492.3(NF1):c.5096G>T (p.Gly1699Val)
|
rs2069333669
|
|
NM_001042492.3(NF1):c.5107A>G (p.Ser1703Gly)
|
rs1555533374
|
|
NM_001042492.3(NF1):c.5132G>C (p.Cys1711Ser)
|
rs1567611549
|
|
NM_001042492.3(NF1):c.514G>A (p.Val172Ile)
|
rs1555607083
|
|
NM_001042492.3(NF1):c.5157del (p.Ile1719fs)
|
rs1555533382
|
|
NM_001042492.3(NF1):c.5169A>G (p.Gln1723=)
|
rs864622372
|
|
NM_001042492.3(NF1):c.5170C>T (p.Gln1724Ter)
|
|
|
NM_001042492.3(NF1):c.5176C>T (p.Leu1726=)
|
|
|
NM_001042492.3(NF1):c.5180C>G (p.Pro1727Arg)
|
rs2069336255
|
|
NM_001042492.3(NF1):c.5188A>C (p.Thr1730Pro)
|
|
|
NM_001042492.3(NF1):c.5193_5194insAATGCCACCTTG (p.Leu1731_Ala1732insAsnAlaThrLeu)
|
rs2151538831
|
|
NM_001042492.3(NF1):c.5203G>T (p.Glu1735Ter)
|
rs2151538896
|
|
NM_001042492.3(NF1):c.520G>A (p.Val174Ile)
|
rs1555607084
|
|
NM_001042492.3(NF1):c.5215G>C (p.Val1739Leu)
|
rs876659956
|
|
NM_001042492.3(NF1):c.5238A>G (p.Leu1746=)
|
rs779689556
|
|
NM_001042492.3(NF1):c.5245A>G (p.Lys1749Glu)
|
rs2069338050
|
|
NM_001042492.3(NF1):c.5247dup (p.Asp1750fs)
|
rs1555533409
|
|
NM_001042492.3(NF1):c.5253C>G (p.Thr1751=)
|
|
|
NM_001042492.3(NF1):c.5253dup (p.Lys1752fs)
|
|
|
NM_001042492.3(NF1):c.5260T>C (p.Ser1754Pro)
|
|
|
NM_001042492.3(NF1):c.5268+1G>A
|
|
|
NM_001042492.3(NF1):c.5268+1G>T
|
rs2069338793
|
|
NM_001042492.3(NF1):c.5268+3_5268+6del
|
|
|
NM_001042492.3(NF1):c.5269-14C>G
|
rs753463683
|
|
NM_001042492.3(NF1):c.5269-1G>A
|
rs876660141
|
|
NM_001042492.3(NF1):c.5269-1G>C
|
rs876660141
|
|
NM_001042492.3(NF1):c.5269-2A>G
|
rs1555533548
|
|
NM_001042492.3(NF1):c.5269G>T (p.Val1757Phe)
|
|
|
NM_001042492.3(NF1):c.527A>G (p.Asp176Gly)
|
rs1567820732
|
|
NM_001042492.3(NF1):c.5287C>T (p.Gln1763Ter)
|
rs2069375606
|
|
NM_001042492.3(NF1):c.5297C>G (p.Ser1766Ter)
|
rs1555533555
|
|
NM_001042492.3(NF1):c.5299G>A (p.Ala1767Thr)
|
rs529905904
|
|
NM_001042492.3(NF1):c.5303A>G (p.Glu1768Gly)
|
rs2151540883
|
|
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter)
|
rs876657714
|
|
NM_001042492.3(NF1):c.5306G>A (p.Arg1769Gln)
|
rs1555533559
|
|
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu)
|
rs1131691103
|
|
NM_001042492.3(NF1):c.5314G>C (p.Val1772Leu)
|
rs1567612377
|
|
NM_001042492.3(NF1):c.5320_5324dup (p.Ser1776fs)
|
rs1555533562
|
|
NM_001042492.3(NF1):c.5335del (p.Phe1778_Leu1779insTer)
|
|
|
NM_001042492.3(NF1):c.5336T>G (p.Leu1779Arg)
|
rs2151541015
|
|
NM_001042492.3(NF1):c.5353G>T (p.Ala1785Ser)
|
rs199474782
|
|
NM_001042492.3(NF1):c.5356del (p.Ser1786fs)
|
|
|
NM_001042492.3(NF1):c.5377C>A (p.Leu1793Ile)
|
rs761676110
|
|
NM_001042492.3(NF1):c.5380G>A (p.Val1794Ile)
|
rs1555533574
|
|
NM_001042492.3(NF1):c.5397C>T (p.Phe1799=)
|
rs878853901
|
|
NM_001042492.3(NF1):c.539dup (p.Leu180fs)
|
|
|
NM_001042492.3(NF1):c.5419G>T (p.Gly1807Cys)
|
|
|
NM_001042492.3(NF1):c.541C>T (p.Gln181Ter)
|
rs753529924
|
|
NM_001042492.3(NF1):c.5431_5449del (p.Thr1811fs)
|
rs1567612488
|
|
NM_001042492.3(NF1):c.543_545dup (p.Tyr182Ter)
|
|
|
NM_001042492.3(NF1):c.5442C>G (p.His1814Gln)
|
rs991848606
|
|
NM_001042492.3(NF1):c.544_550del (p.Tyr182fs)
|
rs2143707713
|
|
NM_001042492.3(NF1):c.5469dup (p.Ile1824fs)
|
rs267606605
|
|
NM_001042492.3(NF1):c.5482C>T (p.Arg1828Trp)
|
rs1555533609
|
|
NM_001042492.3(NF1):c.5488C>G (p.Arg1830Gly)
|
rs797045139
|
|
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His)
|
rs771529172
|
|
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu)
|
rs771529172
|
|
NM_001042492.3(NF1):c.5493G>A (p.Trp1831Ter)
|
rs2069382585
|
|
NM_001042492.3(NF1):c.5498T>C (p.Leu1833Pro)
|
rs2151541565
|
|
NM_001042492.3(NF1):c.549C>A (p.Ile183=)
|
|
|
NM_001042492.3(NF1):c.5503C>T (p.Gln1835Ter)
|
rs786202177
|
|
NM_001042492.3(NF1):c.5503_5530dup (p.Lys1844fs)
|
rs2151541577
|
|
NM_001042492.3(NF1):c.5515A>G (p.Ile1839Val)
|
rs2151541625
|
|
NM_001042492.3(NF1):c.5516del (p.Ile1839fs)
|
rs1597832304
|
|
NM_001042492.3(NF1):c.5521C>T (p.Gln1841Ter)
|
rs786203570
|
|
NM_001042492.3(NF1):c.5523A>T (p.Gln1841His)
|
rs151046636
|
|
NM_001042492.3(NF1):c.5529dup (p.Lys1844fs)
|
rs1555533628
|
|
NM_001042492.3(NF1):c.5533A>T (p.Ile1845Phe)
|
rs1567612641
|
|
NM_001042492.3(NF1):c.5534T>G (p.Ile1845Ser)
|
rs1060500339
|
|
NM_001042492.3(NF1):c.5541_5547del (p.Lys1848fs)
|
rs1064796631
|
|
NM_001042492.3(NF1):c.5545G>A (p.Asp1849Asn)
|
rs2151541722
|
|
NM_001042492.3(NF1):c.5546A>T (p.Asp1849Val)
|
rs1170679293
|
|
NM_001042492.3(NF1):c.5548G>T (p.Val1850Phe)
|
rs1597832397
|
|
NM_001042492.3(NF1):c.5551C>T (p.Pro1851Ser)
|
rs267604793
|
|
NM_001042492.3(NF1):c.5552C>A (p.Pro1851His)
|
|
|
NM_001042492.3(NF1):c.5552C>G (p.Pro1851Arg)
|
rs1555533638
|
|
NM_001042492.3(NF1):c.5552C>T (p.Pro1851Leu)
|
rs1555533638
|
|
NM_001042492.3(NF1):c.5561T>A (p.Leu1854Gln)
|
rs878853903
|
|
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr)
|
rs1567820765
|
|
NM_001042492.3(NF1):c.5577dup (p.Leu1860fs)
|
rs2151541844
|
|
NM_001042492.3(NF1):c.5588G>A (p.Gly1863Asp)
|
rs1597832460
|
|
NM_001042492.3(NF1):c.5591G>C (p.Ser1864Thr)
|
rs1567612716
|
|
NM_001042492.3(NF1):c.5606T>G (p.Leu1869Ter)
|
rs1597832482
|
|
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln)
|
rs786202112
|
|
NM_001042492.3(NF1):c.5610-1G>C
|
rs1567613569
|
|
NM_001042492.3(NF1):c.5610-3T>G
|
|
|
NM_001042492.3(NF1):c.5625TCT[1] (p.Leu1877del)
|
rs1131691081
|
|
NM_001042492.3(NF1):c.563C>A (p.Ala188Glu)
|
rs1060500309
|
|
NM_001042492.3(NF1):c.5652T>A (p.Phe1884Leu)
|
rs1567613616
|
|
NM_001042492.3(NF1):c.5657T>A (p.Leu1886Ter)
|
rs1555533853
|
|
NM_001042492.3(NF1):c.5676A>C (p.Leu1892Phe)
|
rs876658130
|
|
NM_001042492.3(NF1):c.5681A>G (p.Glu1894Gly)
|
|
|
NM_001042492.3(NF1):c.5690del (p.Gly1897fs)
|
rs2151544622
|
|
NM_001042492.3(NF1):c.569T>A (p.Leu190Ter)
|
|
|
NM_001042492.3(NF1):c.569T>G (p.Leu190Ter)
|
rs1555607112
|
|
NM_001042492.3(NF1):c.5705C>T (p.Ala1902Val)
|
rs1465309384
|
|
NM_001042492.3(NF1):c.570A>T (p.Leu190Phe)
|
rs2143708067
|
|
NM_001042492.3(NF1):c.5711A>C (p.Asn1904Thr)
|
rs864622647
|
|
NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys)
|
rs751904277
|
|
NM_001042492.3(NF1):c.5730dup (p.Ile1911fs)
|
rs876660212
|
|
NM_001042492.3(NF1):c.5743C>G (p.Leu1915Val)
|
|
|
NM_001042492.3(NF1):c.5744T>C (p.Leu1915Pro)
|
rs1555533875
|
|
NM_001042492.3(NF1):c.5755G>A (p.Glu1919Lys)
|
rs1227869359
|
|
NM_001042492.3(NF1):c.5768C>A (p.Thr1923Lys)
|
rs786203824
|
|
NM_001042492.3(NF1):c.5785G>C (p.Glu1929Gln)
|
|
|
NM_001042492.3(NF1):c.5785G>T (p.Glu1929Ter)
|
rs2069454068
|
|
NM_001042492.3(NF1):c.5787G>C (p.Glu1929Asp)
|
rs786202591
|
|
NM_001042492.3(NF1):c.5787G>T (p.Glu1929Asp)
|
rs786202591
|
|
NM_001042492.3(NF1):c.5788T>C (p.Cys1930Arg)
|
rs2069454402
|
|
NM_001042492.3(NF1):c.5789_5790del (p.Cys1930fs)
|
rs2069454362
|
|
NM_001042492.3(NF1):c.5806_5812+1del
|
rs2069454695
|
|
NM_001042492.3(NF1):c.5806_5812del (p.Lys1936fs)
|
rs1597834959
|
|
NM_001042492.3(NF1):c.5812+333T>C
|
|
|
NM_001042492.3(NF1):c.5812+463del
|
rs17886450
|
|
NM_001042492.3(NF1):c.5812+4A>G
|
|
|
NM_001042492.3(NF1):c.5812+6T>G
|
rs1555533893
|
|
NM_001042492.3(NF1):c.5813-1126G>A
|
rs147661391
|
|
NM_001042492.3(NF1):c.5813-14G>A
|
rs779945790
|
|
NM_001042492.3(NF1):c.5813-1G>A
|
rs1057518974
|
|
NM_001042492.3(NF1):c.5813-43A>G
|
|
|
NM_001042492.3(NF1):c.5813-529del
|
rs199925524
|
|
NM_001042492.3(NF1):c.5813-529dup
|
rs199925524
|
|
NM_001042492.3(NF1):c.5813-5dup
|
rs775451791
|
|
NM_001042492.3(NF1):c.5813-625_5813-618del
|
rs17882240
|
|
NM_001042492.3(NF1):c.5816T>G (p.Ile1939Ser)
|
rs1304057833
|
|
NM_001042492.3(NF1):c.581T>G (p.Leu194Arg)
|
rs199474753
|
|
NM_001042492.3(NF1):c.5822T>A (p.Leu1941Ter)
|
rs1555534375
|
|
NM_001042492.3(NF1):c.5830del (p.Leu1944fs)
|
rs1555534378
|
|
NM_001042492.3(NF1):c.5839G>T (p.Glu1947Ter)
|
rs587782088
|
|
NM_001042492.3(NF1):c.5842T>G (p.Tyr1948Asp)
|
rs1057520575
|
|
NM_001042492.3(NF1):c.5854T>C (p.Trp1952Arg)
|
rs199474791
|
|
NM_001042492.3(NF1):c.5855G>A (p.Trp1952Ter)
|
rs1567615766
|
|
NM_001042492.3(NF1):c.5856G>A (p.Trp1952Ter)
|
rs1555534393
|
|
NM_001042492.3(NF1):c.5858T>C (p.Leu1953Pro)
|
rs199474792
|
|
NM_001042492.3(NF1):c.586+10_586+15del
|
rs1555607130
|
|
NM_001042492.3(NF1):c.586+1G>A
|
rs1555607126
|
|
NM_001042492.3(NF1):c.586+5G>C
|
rs1060500284
|
|
NM_001042492.3(NF1):c.586G>C (p.Glu196Gln)
|
rs876659079
|
|
NM_001042492.3(NF1):c.586delinsTTAA (p.Glu196delinsLeuLys)
|
rs1555607123
|
|
NM_001042492.3(NF1):c.587-12T>C
|
|
|
NM_001042492.3(NF1):c.587-2A>G
|
rs1057518360
|
|
NM_001042492.3(NF1):c.587-2A>T
|
rs1057518360
|
|
NM_001042492.3(NF1):c.587-304C>T
|
rs17880488
|
|
NM_001042492.3(NF1):c.587-3C>A
|
rs375188075
|
|
NM_001042492.3(NF1):c.5880C>A (p.Cys1960Ter)
|
rs1462287670
|
|
NM_001042492.3(NF1):c.5901del (p.Lys1967fs)
|
rs1597840123
|
|
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter)
|
rs137854552
|
|
NM_001042492.3(NF1):c.5919T>C (p.Ala1973=)
|
rs876659706
|
|
NM_001042492.3(NF1):c.5924T>C (p.Leu1975Pro)
|
rs1555534411
|
|
NM_001042492.3(NF1):c.5931G>A (p.Lys1977=)
|
rs786201672
|
|
NM_001042492.3(NF1):c.5933T>C (p.Leu1978Pro)
|
rs2069606635
|
|
NM_001042492.3(NF1):c.5938del (p.Thr1980fs)
|
rs1567615852
|
|
NM_001042492.3(NF1):c.5953G>A (p.Glu1985Lys)
|
rs1567615890
|
|
NM_001042492.3(NF1):c.5959C>T (p.Gln1987Ter)
|
rs876659070
|
|
NM_001042492.3(NF1):c.5961G>C (p.Gln1987His)
|
rs757536610
|
|
NM_001042492.3(NF1):c.5967C>G (p.Tyr1989Ter)
|
rs1567615902
|
|
NM_001042492.3(NF1):c.5985_5986del (p.Lys1995fs)
|
|
|
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter)
|
rs876660696
|
|
NM_001042492.3(NF1):c.5995A>T (p.Ser1999Cys)
|
rs753703741
|
|
NM_001042492.3(NF1):c.60+29485G>A
|
|
|
NM_001042492.3(NF1):c.6001G>A (p.Gly2001Arg)
|
rs199474751
|
|
NM_001042492.3(NF1):c.6002G>A (p.Gly2001Glu)
|
rs878853905
|
|
NM_001042492.3(NF1):c.6004C>T (p.Gln2002Ter)
|
rs1567615941
|
|
NM_001042492.3(NF1):c.6006+1G>A
|
rs1555534433
|
|
NM_001042492.3(NF1):c.6006+249_6006+250insCA
|
rs1257891070
|
|
NM_001042492.3(NF1):c.6006+270_6006+271insATAGGATTATATGTAGGATTATATTTATAATATAAATATATATTT
|
rs1555534486
|
|
NM_001042492.3(NF1):c.6006+2T>G
|
rs1258498548
|
|
NM_001042492.3(NF1):c.6006G>T (p.Gln2002His)
|
rs1555534432
|
|
NM_001042492.3(NF1):c.6006_6006+1delinsAA
|
rs1064796077
|
|
NM_001042492.3(NF1):c.6007-1G>C
|
rs1555534596
|
|
NM_001042492.3(NF1):c.6007-1G>T
|
rs1555534596
|
|
NM_001042492.3(NF1):c.6007-47_6007-43del
|
rs17882094
|
|
NM_001042492.3(NF1):c.6007-5A>G
|
rs267606604
|
|
NM_001042492.3(NF1):c.6016C>G (p.Leu2006Val)
|
rs2151553176
|
|
NM_001042492.3(NF1):c.6023A>G (p.Asp2008Gly)
|
rs2069668717
|
|
NM_001042492.3(NF1):c.6024T>C (p.Asp2008=)
|
rs2069668775
|
|
NM_001042492.3(NF1):c.6029T>A (p.Val2010Glu)
|
rs2151553215
|
|
NM_001042492.3(NF1):c.6031C>G (p.Leu2011Val)
|
rs1567616649
|
|
NM_001042492.3(NF1):c.6034G>A (p.Asp2012Asn)
|
rs199474783
|
|
NM_001042492.3(NF1):c.6037A>G (p.Ser2013Gly)
|
rs876658710
|
|
NM_001042492.3(NF1):c.6041del (p.Phe2014fs)
|
rs2151553250
|
|
NM_001042492.3(NF1):c.6043A>G (p.Ile2015Val)
|
rs2151553260
|
|
NM_001042492.3(NF1):c.6049A>C (p.Thr2017Pro)
|
|
|
NM_001042492.3(NF1):c.6052A>G (p.Ser2018Gly)
|
rs2151553286
|
|
NM_001042492.3(NF1):c.6058A>G (p.Thr2020Ala)
|
rs1597842258
|
|
NM_001042492.3(NF1):c.6060_6147+57del
|
rs2151553312
|
|
NM_001042492.3(NF1):c.6061G>C (p.Gly2021Arg)
|
rs2151553314
|
|
NM_001042492.3(NF1):c.6062del (p.Gly2021fs)
|
rs1057518475
|
|
NM_001042492.3(NF1):c.6088dup (p.Val2030fs)
|
rs1555534609
|
|
NM_001042492.3(NF1):c.61-2A>G
|
rs1131691100
|
|
NM_001042492.3(NF1):c.61-4del
|
rs551568608
|
|
NM_001042492.3(NF1):c.61-4dup
|
rs551568608
|
|
NM_001042492.3(NF1):c.61-7486G>T
|
rs1597617010
|
|
NM_001042492.3(NF1):c.61-7573dup
|
rs71142023
|
|
NM_001042492.3(NF1):c.6109G>A (p.Ala2037Thr)
|
rs1555534612
|
|
NM_001042492.3(NF1):c.610del (p.Ala203_Leu204insTer)
|
|
|
NM_001042492.3(NF1):c.6147+1G>A
|
rs1060500296
|
|
NM_001042492.3(NF1):c.6147+2T>C
|
rs1555534621
|
|
NM_001042492.3(NF1):c.6147+8C>G
|
rs182709912
|
|
NM_001042492.3(NF1):c.6147G>A (p.Lys2049=)
|
|
|
NM_001042492.3(NF1):c.6148-17dup
|
rs33925668
|
|
NM_001042492.3(NF1):c.6148-19_6148-17dup
|
rs33925668
|
|
NM_001042492.3(NF1):c.6148-1G>A
|
rs1555534661
|
|
NM_001042492.3(NF1):c.6148-27A>T
|
|
|
NM_001042492.3(NF1):c.6148-28del
|
rs398100472
|
|
NM_001042492.3(NF1):c.6148-28dup
|
rs398100472
|
|
NM_001042492.3(NF1):c.6148-29_6148-28del
|
rs398100472
|
|
NM_001042492.3(NF1):c.6148-30_6148-28del
|
|
|
NM_001042492.3(NF1):c.6148-3C>G
|
rs1597842697
|
|
NM_001042492.3(NF1):c.614A>G (p.Lys205Arg)
|
rs1555608659
|
|
NM_001042492.3(NF1):c.6190T>A (p.Ser2064Thr)
|
|
|
NM_001042492.3(NF1):c.6225G>A (p.Trp2075Ter)
|
rs1555534677
|
|
NM_001042492.3(NF1):c.6228T>C (p.Asp2076=)
|
rs1555534682
|
|
NM_001042492.3(NF1):c.6283G>A (p.Asp2095Asn)
|
rs1254820959
|
|
NM_001042492.3(NF1):c.6295C>T (p.His2099Tyr)
|
rs1060500382
|
|
NM_001042492.3(NF1):c.6299T>G (p.Leu2100Arg)
|
rs1555534708
|
|
NM_001042492.3(NF1):c.62T>C (p.Leu21Pro)
|
rs1567814403
|
|
NM_001042492.3(NF1):c.6303del (p.Tyr2102fs)
|
rs1597842936
|
|
NM_001042492.3(NF1):c.6310T>C (p.Phe2104Leu)
|
rs876660000
|
|
NM_001042492.3(NF1):c.6314A>C (p.His2105Pro)
|
rs1555534726
|
|
NM_001042492.3(NF1):c.6320_6345dup (p.Leu2116_Ser2117insLeuSerTer)
|
|
|
NM_001042492.3(NF1):c.633A>G (p.Ala211=)
|
rs876660800
|
|
NM_001042492.3(NF1):c.6350_6353del (p.Ser2117fs)
|
rs1064795492
|
|
NM_001042492.3(NF1):c.6352dup (p.Leu2118fs)
|
rs2151554927
|
|
NM_001042492.3(NF1):c.6374T>C (p.Leu2125Pro)
|
rs1597843129
|
|
NM_001042492.3(NF1):c.6388del (p.Ile2130fs)
|
rs1597843169
|
|
NM_001042492.3(NF1):c.6397_6398del (p.Leu2133fs)
|
rs1567617129
|
|
NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs)
|
rs1597843186
|
|
NM_001042492.3(NF1):c.6425G>A (p.Ser2142Asn)
|
rs876658896
|
|
NM_001042492.3(NF1):c.6425del (p.Ser2142fs)
|
rs2069691466
|
|
NM_001042492.3(NF1):c.6427+1G>T
|
|
|
NM_001042492.3(NF1):c.6427+2T>C
|
rs1567617158
|
|
NM_001042492.3(NF1):c.6427+5G>A
|
rs1060500311
|
|
NM_001042492.3(NF1):c.6427+8C>A
|
rs864622598
|
|
NM_001042492.3(NF1):c.6428-11T>G
|
rs2151555896
|
|
NM_001042492.3(NF1):c.6428-2A>G
|
rs1060500312
|
|
NM_001042492.3(NF1):c.6428-3C>A
|
rs374014162
|
|
NM_001042492.3(NF1):c.6428-3C>G
|
rs374014162
|
|
NM_001042492.3(NF1):c.6430G>T (p.Glu2144Ter)
|
rs1567617371
|
|
NM_001042492.3(NF1):c.6439C>T (p.Gln2147Ter)
|
rs1555534859
|
|
NM_001042492.3(NF1):c.6449_6460del (p.Arg2150_Leu2153del)
|
rs1555534860
|
|
NM_001042492.3(NF1):c.6462dup (p.Glu2155fs)
|
rs1135402888
|
|
NM_001042492.3(NF1):c.6473T>A (p.Leu2158Ter)
|
rs2151556088
|
|
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro)
|
rs199474756
|
|
NM_001042492.3(NF1):c.647T>G (p.Leu216Arg)
|
rs199474756
|
|
NM_001042492.3(NF1):c.6527T>C (p.Ile2176Thr)
|
rs2069705362
|
|
NM_001042492.3(NF1):c.6535C>T (p.Arg2179Cys)
|
rs878853908
|
|
NM_001042492.3(NF1):c.654+1G>A
|
rs1060500245
|
|
NM_001042492.3(NF1):c.655-35A>C
|
|
|
NM_001042492.3(NF1):c.655-9T>C
|
rs2143777099
|
|
NM_001042492.3(NF1):c.6555G>A (p.Arg2185=)
|
rs786203189
|
|
NM_001042492.3(NF1):c.6556_6557del (p.Ser2186fs)
|
rs2069706454
|
|
NM_001042492.3(NF1):c.6571T>C (p.Ser2191Pro)
|
rs754630324
|
|
NM_001042492.3(NF1):c.6583_6586del (p.Glu2195fs)
|
rs1131691084
|
|
NM_001042492.3(NF1):c.6585_6586del (p.Glu2195fs)
|
rs1131691084
|
|
NM_001042492.3(NF1):c.6596T>A (p.Leu2199Ter)
|
rs1597843979
|
|
NM_001042492.3(NF1):c.65C>T (p.Pro22Leu)
|
rs2065654347
|
|
NM_001042492.3(NF1):c.660_665del (p.Asn222_Trp223del)
|
rs1064796137
|
|
NM_001042492.3(NF1):c.6621A>C (p.Glu2207Asp)
|
rs111405163
|
|
NM_001042492.3(NF1):c.6623C>G (p.Ala2208Gly)
|
rs1555534886
|
|
NM_001042492.3(NF1):c.6625T>G (p.Leu2209Val)
|
rs2151556602
|
|
NM_001042492.3(NF1):c.662G>A (p.Trp221Ter)
|
rs1131691126
|
|
NM_001042492.3(NF1):c.6637A>G (p.Met2213Val)
|
rs864622330
|
|
NM_001042492.3(NF1):c.663del (p.Phe220_Trp221insTer)
|
rs1555608736
|
|
NM_001042492.3(NF1):c.6642+11C>G
|
rs375446476
|
|
NM_001042492.3(NF1):c.6642+18A>G
|
rs1555534893
|
|
NM_001042492.3(NF1):c.6642+1G>A
|
rs1060500345
|
|
NM_001042492.3(NF1):c.6642G>C (p.Glu2214Asp)
|
rs876660207
|
|
NM_001042492.3(NF1):c.6643-1_6643delinsTT
|
rs2151557372
|
|
NM_001042492.3(NF1):c.6647G>T (p.Cys2216Phe)
|
rs1567617669
|
|
NM_001042492.3(NF1):c.6658_6659del (p.Ile2220fs)
|
rs2151557411
|
|
NM_001042492.3(NF1):c.6661C>G (p.Pro2221Ala)
|
rs199474776
|
|
NM_001042492.3(NF1):c.6669C>A (p.Cys2223Ter)
|
rs1555534918
|
|
NM_001042492.3(NF1):c.6675G>A (p.Trp2225Ter)
|
rs2069717916
|
|
NM_001042492.3(NF1):c.667T>C (p.Trp223Arg)
|
rs1555608740
|
|
NM_001042492.3(NF1):c.6682C>T (p.Gln2228Ter)
|
rs2069718249
|
|
NM_001042492.3(NF1):c.6684G>A (p.Gln2228=)
|
rs1597844644
|
|
NM_001042492.3(NF1):c.668G>A (p.Trp223Ter)
|
rs1567826110
|
|
NM_001042492.3(NF1):c.669G>A (p.Trp223Ter)
|
rs1057517967
|
|
NM_001042492.3(NF1):c.6704+1G>A
|
rs1060500376
|
|
NM_001042492.3(NF1):c.6704+1del
|
rs1597844692
|
|
NM_001042492.3(NF1):c.6705-17G>A
|
rs1064795966
|
|
NM_001042492.3(NF1):c.6713_6715del (p.Phe2238_Gln2239delinsTer)
|
rs1555534948
|
|
NM_001042492.3(NF1):c.6715C>T (p.Gln2239Ter)
|
rs1131691093
|
|
NM_001042492.3(NF1):c.6728C>G (p.Ser2243Cys)
|
rs2151558088
|
|
NM_001042492.3(NF1):c.6733C>T (p.Gln2245Ter)
|
rs1597845013
|
|
NM_001042492.3(NF1):c.6751_6754del (p.Val2251fs)
|
rs1567617877
|
|
NM_001042492.3(NF1):c.6763A>T (p.Ile2255Phe)
|
|
|
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter)
|
rs876658541
|
|
NM_001042492.3(NF1):c.6777G>A (p.Val2259=)
|
rs1281405147
|
|
NM_001042492.3(NF1):c.6781C>T (p.His2261Tyr)
|
rs750869272
|
|
NM_001042492.3(NF1):c.6782A>G (p.His2261Arg)
|
rs201336602
|
|
NM_001042492.3(NF1):c.6784G>T (p.Gly2262Trp)
|
rs1392981001
|
|
NM_001042492.3(NF1):c.6790A>G (p.Ile2264Val)
|
rs761213794
|
|
NM_001042492.3(NF1):c.6794del (p.Lys2265fs)
|
rs1597845155
|
|
NM_001042492.3(NF1):c.6796C>T (p.Gln2266Ter)
|
rs1555534955
|
|
NM_001042492.3(NF1):c.6798del (p.Gln2266_Ile2267insTer)
|
rs2069727438
|
|
NM_001042492.3(NF1):c.67del (p.Pro22_Ile23insTer)
|
rs1597625799
|
|
NM_001042492.3(NF1):c.6819+1G>A
|
rs1555534964
|
|
NM_001042492.3(NF1):c.6819+2T>A
|
rs1135402894
|
|
NM_001042492.3(NF1):c.6819+2T>C
|
rs1135402894
|
|
NM_001042492.3(NF1):c.681T>G (p.Tyr227Ter)
|
rs745804540
|
|
NM_001042492.3(NF1):c.6820-3A>G
|
|
|
NM_001042492.3(NF1):c.6820-6T>C
|
rs1597845896
|
|
NM_001042492.3(NF1):c.6832del (p.Cys2278fs)
|
rs2069742717
|
|
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs)
|
rs1555535032
|
|
NM_001042492.3(NF1):c.6854ACA[1] (p.Asn2286del)
|
|
|
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)
|
rs772295894
|
|
NM_001042492.3(NF1):c.6856A>C (p.Asn2286His)
|
|
|
NM_001042492.3(NF1):c.6864A>G (p.Gln2288=)
|
rs1064794756
|
|
NM_001042492.3(NF1):c.6865G>C (p.Val2289Leu)
|
rs943381724
|
|
NM_001042492.3(NF1):c.686A>G (p.Asp229Gly)
|
rs1060500285
|
|
NM_001042492.3(NF1):c.6871A>C (p.Ile2291Leu)
|
rs876659722
|
|
NM_001042492.3(NF1):c.688G>T (p.Glu230Ter)
|
rs2066138676
|
|
NM_001042492.3(NF1):c.6898A>G (p.Lys2300Glu)
|
|
|
NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter)
|
rs1057518807
|
|
NM_001042492.3(NF1):c.6912_6916del (p.Leu2304_Leu2305insTer)
|
rs878853025
|
|
NM_001042492.3(NF1):c.6920A>G (p.Lys2307Arg)
|
rs765418194
|
|
NM_001042492.3(NF1):c.6921+1G>A
|
rs1060500355
|
|
NM_001042492.3(NF1):c.6921+1G>T
|
rs1060500355
|
|
NM_001042492.3(NF1):c.6921+2T>C
|
rs1555535053
|
|
NM_001042492.3(NF1):c.6921+3A>G
|
rs1085307885
|
|
NM_001042492.3(NF1):c.6921+4A>G
|
rs752841251
|
|
NM_001042492.3(NF1):c.6921+6T>G
|
rs368541645
|
|
NM_001042492.3(NF1):c.6921G>T (p.Lys2307Asn)
|
rs1057523533
|
|
NM_001042492.3(NF1):c.6922-13T>A
|
rs199901687
|
|
NM_001042492.3(NF1):c.6922-14_6922-13del
|
rs146785663
|
|
NM_001042492.3(NF1):c.6929del (p.Pro2310fs)
|
rs2151561461
|
|
NM_001042492.3(NF1):c.6932_6933del (p.Leu2311fs)
|
rs2151561476
|
|
NM_001042492.3(NF1):c.6935A>C (p.His2312Pro)
|
rs2151561492
|
|
NM_001042492.3(NF1):c.6953_6955dup (p.Val2318_Ala2319insVal)
|
|
|
NM_001042492.3(NF1):c.695C>T (p.Thr232Ile)
|
rs769719064
|
|
NM_001042492.3(NF1):c.6968T>C (p.Leu2323Pro)
|
rs1131691267
|
|
NM_001042492.3(NF1):c.6970C>T (p.Gln2324Ter)
|
rs1131691073
|
|
NM_001042492.3(NF1):c.6979G>A (p.Glu2327Lys)
|
rs2151561691
|
|
NM_001042492.3(NF1):c.6986A>G (p.Asn2329Ser)
|
rs1597848079
|
|
NM_001042492.3(NF1):c.7012C>T (p.Leu2338Phe)
|
rs1597848149
|
|
NM_001042492.3(NF1):c.7015G>T (p.Glu2339Ter)
|
rs1060500359
|
|
NM_001042492.3(NF1):c.7025T>G (p.Leu2342Arg)
|
rs2151561874
|
|
NM_001042492.3(NF1):c.7027C>T (p.His2343Tyr)
|
rs781578248
|
|
NM_001042492.3(NF1):c.702G>T (p.Leu234=)
|
rs1801052
|
|
NM_001042492.3(NF1):c.7034T>G (p.Leu2345Ter)
|
rs1555535195
|
|
NM_001042492.3(NF1):c.7037A>T (p.Asp2346Val)
|
rs2151561935
|
|
NM_001042492.3(NF1):c.7037_7040del (p.Asp2346fs)
|
rs1597848201
|
|
NM_001042492.3(NF1):c.7040G>C (p.Ser2347Thr)
|
rs1567619102
|
|
NM_001042492.3(NF1):c.7048A>C (p.Ile2350Leu)
|
rs1381254564
|
|
NM_001042492.3(NF1):c.704A>G (p.Tyr235Cys)
|
|
|
NM_001042492.3(NF1):c.7062+214_7062+215dup
|
rs1051607259
|
|
NM_001042492.3(NF1):c.7062+215dup
|
rs1051607259
|
|
NM_001042492.3(NF1):c.7062G>A (p.Lys2354=)
|
rs184142864
|
|
NM_001042492.3(NF1):c.7063-1G>A
|
rs1131691114
|
|
NM_001042492.3(NF1):c.7063-1G>T
|
rs1131691114
|
|
NM_001042492.3(NF1):c.7063-2A>G
|
rs1597851255
|
|
NM_001042492.3(NF1):c.7063-2del
|
rs2151564936
|
|
NM_001042492.3(NF1):c.7063-4A>G
|
rs749805168
|
|
NM_001042492.3(NF1):c.7063-7_7063-6delinsC
|
rs864622725
|
|
NM_001042492.3(NF1):c.7069G>A (p.Glu2357Lys)
|
rs199474784
|
|
NM_001042492.3(NF1):c.706C>T (p.Gln236Ter)
|
|
|
NM_001042492.3(NF1):c.7072G>A (p.Glu2358Lys)
|
rs2069865899
|
|
NM_001042492.3(NF1):c.7074A>T (p.Glu2358Asp)
|
|
|
NM_001042492.3(NF1):c.7078T>G (p.Phe2360Val)
|
rs2069866148
|
|
NM_001042492.3(NF1):c.707A>G (p.Gln236Arg)
|
rs1321998864
|
|
NM_001042492.3(NF1):c.7081A>G (p.Met2361Val)
|
rs1022562410
|
|
NM_001042492.3(NF1):c.7090C>T (p.Arg2364Trp)
|
rs1567620403
|
|
NM_001042492.3(NF1):c.7113C>A (p.Cys2371Ter)
|
rs2069867490
|
|
NM_001042492.3(NF1):c.7120A>T (p.Met2374Leu)
|
|
|
NM_001042492.3(NF1):c.713C>T (p.Pro238Leu)
|
rs1567826152
|
|
NM_001042492.3(NF1):c.7152dup (p.Asn2385Ter)
|
rs1555535434
|
|
NM_001042492.3(NF1):c.7153A>G (p.Asn2385Asp)
|
rs1597851405
|
|
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])
|
rs864622639
|
|
NM_001042492.3(NF1):c.7161C>G (p.Asn2387Lys)
|
rs1555535444
|
|
NM_001042492.3(NF1):c.7162T>G (p.Phe2388Val)
|
|
|
NM_001042492.3(NF1):c.7175G>A (p.Gly2392Glu)
|
rs2151565294
|
|
NM_001042492.3(NF1):c.7181T>C (p.Leu2394Pro)
|
rs1135402899
|
|
NM_001042492.3(NF1):c.7184del (p.Leu2394_Leu2395insTer)
|
rs2069870374
|
|
NM_001042492.3(NF1):c.7188del (p.Tyr2398fs)
|
rs777872719
|
|
NM_001042492.3(NF1):c.7189+140_7189+142del
|
rs145221709
|
|
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg)
|
rs1135402900
|
|
NM_001042492.3(NF1):c.7190-10_7190-3delinsCTTTTGG
|
rs2151572443
|
|
NM_001042492.3(NF1):c.7190-1G>C
|
|
|
NM_001042492.3(NF1):c.7190-260T>G
|
rs2525568
|
|
NM_001042492.3(NF1):c.7190-33TTGT[3]
|
rs149197458
|
|
NM_001042492.3(NF1):c.7190-33TTGT[4]
|
rs149197458
|
|
NM_001042492.3(NF1):c.7190-33TTGT[5]
|
rs149197458
|
|
NM_001042492.3(NF1):c.7190-33TTGT[7]
|
rs149197458
|
|
NM_001042492.3(NF1):c.7190-5del
|
rs769290414
|
|
NM_001042492.3(NF1):c.7193A>G (p.Tyr2398Cys)
|
rs1567623401
|
|
NM_001042492.3(NF1):c.7201C>T (p.Pro2401Ser)
|
rs1597858372
|
|
NM_001042492.3(NF1):c.7226C>T (p.Thr2409Ile)
|
rs1597858415
|
|
NM_001042492.3(NF1):c.723_731del (p.Asp241_Ala243del)
|
rs1567826158
|
|
NM_001042492.3(NF1):c.7246CTA[1] (p.Leu2417del)
|
rs1555536023
|
|
NM_001042492.3(NF1):c.724dup (p.Met242fs)
|
rs1555608763
|
|
NM_001042492.3(NF1):c.7255_7256del (p.Leu2419fs)
|
rs1597858459
|
|
NM_001042492.3(NF1):c.7256T>G (p.Leu2419Arg)
|
rs2070075780
|
|
NM_001042492.3(NF1):c.7256_7257del (p.Leu2419fs)
|
rs1555536027
|
|
NM_001042492.3(NF1):c.7266del (p.Lys2422fs)
|
rs2151572751
|
|
NM_001042492.3(NF1):c.7269_7270del (p.His2423fs)
|
rs878853913
|
|
NM_001042492.3(NF1):c.7271_7272del (p.Arg2424fs)
|
rs2070076529
|
|
NM_001042492.3(NF1):c.7274del (p.Asn2425fs)
|
rs1555536030
|
|
NM_001042492.3(NF1):c.7284del (p.Lys2428fs)
|
rs2070077334
|
|
NM_001042492.3(NF1):c.730+1G>A
|
rs1060500274
|
|
NM_001042492.3(NF1):c.730+2T>G
|
rs200962248
|
|
NM_001042492.3(NF1):c.730+31_730+32del
|
rs71142032
|
|
NM_001042492.3(NF1):c.730+32del
|
rs71142032
|
|
NM_001042492.3(NF1):c.730+3A>T
|
rs762029774
|
|
NM_001042492.3(NF1):c.7303_7304del (p.Ser2435fs)
|
rs1597858594
|
|
NM_001042492.3(NF1):c.730G>A (p.Glu244Lys)
|
rs1567826188
|
|
NM_001042492.3(NF1):c.731-169_731-168insAA
|
rs17879935
|
|
NM_001042492.3(NF1):c.731-1G>A
|
rs1555608928
|
|
NM_001042492.3(NF1):c.731-2A>G
|
rs1555608924
|
|
NM_001042492.3(NF1):c.7314C>G (p.Tyr2438Ter)
|
rs1060500385
|
|
NM_001042492.3(NF1):c.7317AGC[1] (p.Ala2441del)
|
rs1085307506
|
|
NM_001042492.3(NF1):c.7321+13A>G
|
rs1057523308
|
|
NM_001042492.3(NF1):c.7321+19_7321+22del
|
rs528866152
|
|
NM_001042492.3(NF1):c.7321+3A>T
|
rs1597858650
|
|
NM_001042492.3(NF1):c.7322-266del
|
rs551501535
|
|
NM_001042492.3(NF1):c.7322-2_7347del
|
|
|
NM_001042492.3(NF1):c.7330_7331insAA (p.Thr2444fs)
|
rs1064794278
|
|
NM_001042492.3(NF1):c.7330dup (p.Thr2444fs)
|
rs1064794278
|
|
NM_001042492.3(NF1):c.7334T>G (p.Val2445Gly)
|
rs1567623931
|
|
NM_001042492.3(NF1):c.7336T>G (p.Ser2446Ala)
|
rs2151574285
|
|
NM_001042492.3(NF1):c.7340AAG[1] (p.Glu2448del)
|
rs587781961
|
|
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter)
|
rs786202457
|
|
NM_001042492.3(NF1):c.734G>T (p.Cys245Phe)
|
rs587781869
|
|
NM_001042492.3(NF1):c.7355G>A (p.Arg2452His)
|
rs1555536122
|
|
NM_001042492.3(NF1):c.7358G>T (p.Cys2453Phe)
|
|
|
NM_001042492.3(NF1):c.7368del (p.Lys2456fs)
|
|
|
NM_001042492.3(NF1):c.7373G>A (p.Arg2458Lys)
|
rs1555536130
|
|
NM_001042492.3(NF1):c.7381CTT[2] (p.Leu2463del)
|
rs786203184
|
|
NM_001042492.3(NF1):c.7387C>G (p.Leu2463Val)
|
rs2070105859
|
|
NM_001042492.3(NF1):c.7415C>G (p.Pro2472Arg)
|
rs786202184
|
|
NM_001042492.3(NF1):c.7426T>C (p.Tyr2476His)
|
rs864622745
|
|
NM_001042492.3(NF1):c.7428del (p.Ile2478fs)
|
|
|
NM_001042492.3(NF1):c.7437T>C (p.His2479=)
|
rs1355368926
|
|
NM_001042492.3(NF1):c.7442G>T (p.Gly2481Val)
|
rs786202540
|
|
NM_001042492.3(NF1):c.7447C>T (p.Pro2483Ser)
|
rs1291550449
|
|
NM_001042492.3(NF1):c.7453dup (p.Tyr2485fs)
|
rs2070108811
|
|
NM_001042492.3(NF1):c.7457+21A>G
|
rs17881641
|
|
NM_001042492.3(NF1):c.7457+5G>A
|
rs1555536171
|
|
NM_001042492.3(NF1):c.7458-1G>A
|
rs1597862012
|
|
NM_001042492.3(NF1):c.7458-1G>C
|
rs1597862012
|
|
NM_001042492.3(NF1):c.7458-3C>G
|
rs1158267419
|
|
NM_001042492.3(NF1):c.7458G>T (p.Arg2486Ser)
|
rs2070166426
|
|
NM_001042492.3(NF1):c.7465A>T (p.Lys2489Ter)
|
rs1555536338
|
|
NM_001042492.3(NF1):c.7466A>G (p.Lys2489Arg)
|
rs864622249
|
|
NM_001042492.3(NF1):c.746T>C (p.Leu249Pro)
|
rs1567826623
|
|
NM_001042492.3(NF1):c.7496G>A (p.Gly2499Asp)
|
rs375176282
|
|
NM_001042492.3(NF1):c.7505_7508dup (p.Tyr2503Ter)
|
rs1597862086
|
|
NM_001042492.3(NF1):c.7523A>T (p.Tyr2508Phe)
|
rs762169098
|
|
NM_001042492.3(NF1):c.7524T>G (p.Tyr2508Ter)
|
rs2151577136
|
|
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)
|
rs866445127
|
|
NM_001042492.3(NF1):c.7577dup (p.Met2526fs)
|
rs1555536367
|
|
NM_001042492.3(NF1):c.7591C>T (p.Gln2531Ter)
|
rs1555536372
|
|
NM_001042492.3(NF1):c.7594G>A (p.Ala2532Thr)
|
rs1555536373
|
|
NM_001042492.3(NF1):c.7599C>T (p.Asn2533=)
|
rs1597862269
|
|
NM_001042492.3(NF1):c.7602dup (p.Lys2535Ter)
|
rs2070172428
|
|
NM_001042492.3(NF1):c.7614del (p.Gly2539fs)
|
rs2070173038
|
|
NM_001042492.3(NF1):c.7615+1G>A
|
rs1555536380
|
|
NM_001042492.3(NF1):c.7615+1G>T
|
rs1555536380
|
|
NM_001042492.3(NF1):c.7615+6T>C
|
|
|
NM_001042492.3(NF1):c.7616-288G>T
|
rs17879350
|
|
NM_001042492.3(NF1):c.7637A>C (p.His2546Pro)
|
|
|
NM_001042492.3(NF1):c.7643T>A (p.Ile2548Lys)
|
rs864622266
|
|
NM_001042492.3(NF1):c.7647del (p.Asp2550fs)
|
rs1597865773
|
|
NM_001042492.3(NF1):c.7660C>T (p.Pro2554Ser)
|
|
|
NM_001042492.3(NF1):c.7666dup (p.Arg2556fs)
|
rs2151581134
|
|
NM_001042492.3(NF1):c.7682C>G (p.Ser2561Ter)
|
rs2070274228
|
|
NM_001042492.3(NF1):c.7690A>C (p.Thr2564Pro)
|
rs2151581238
|
|
NM_001042492.3(NF1):c.7693A>G (p.Thr2565Ala)
|
rs786202548
|
|
NM_001042492.3(NF1):c.7701dup (p.Lys2568fs)
|
rs1060500295
|
|
NM_001042492.3(NF1):c.7712G>A (p.Arg2571Lys)
|
rs1597865842
|
|
NM_001042492.3(NF1):c.7728T>C (p.Asp2576=)
|
rs876658892
|
|
NM_001042492.3(NF1):c.7738+1G>A
|
|
|
NM_001042492.3(NF1):c.7747_7748del (p.Arg2583fs)
|
rs1135402907
|
|
NM_001042492.3(NF1):c.7747_7748dup (p.Ile2584fs)
|
rs1135402907
|
|
NM_001042492.3(NF1):c.7749del (p.Ile2584fs)
|
rs2151582195
|
|
NM_001042492.3(NF1):c.7762C>T (p.Gln2588Ter)
|
rs1555536687
|
|
NM_001042492.3(NF1):c.7772del (p.Pro2591fs)
|
rs1064795136
|
|
NM_001042492.3(NF1):c.7778del (p.Leu2593fs)
|
rs1567626919
|
|
NM_001042492.3(NF1):c.7784_7785del (p.Lys2595fs)
|
rs1597866414
|
|
NM_001042492.3(NF1):c.7807G>C (p.Val2603Leu)
|
rs766135206
|
|
NM_001042492.3(NF1):c.7822dup (p.Glu2608fs)
|
|
|
NM_001042492.3(NF1):c.7824A>T (p.Glu2608Asp)
|
rs1567626984
|
|
NM_001042492.3(NF1):c.7825G>C (p.Val2609Leu)
|
rs786203848
|
|
NM_001042492.3(NF1):c.7842G>T (p.Lys2614Asn)
|
rs1555536710
|
|
NM_001042492.3(NF1):c.784C>T (p.Arg262Cys)
|
rs754343223
|
|
NM_001042492.3(NF1):c.7864G>A (p.Val2622Ile)
|
rs1471144465
|
|
NM_001042492.3(NF1):c.7867C>G (p.Leu2623Val)
|
rs1555536721
|
|
NM_001042492.3(NF1):c.7869+1G>A
|
rs1329683225
|
|
NM_001042492.3(NF1):c.7869+5G>A
|
rs1555536725
|
|
NM_001042492.3(NF1):c.7869+5G>C
|
rs1555536725
|
|
NM_001042492.3(NF1):c.7870-13dup
|
rs369360556
|
|
NM_001042492.3(NF1):c.7888A>G (p.Thr2630Ala)
|
rs1567627155
|
|
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)
|
rs786201367
|
|
NM_001042492.3(NF1):c.7913T>G (p.Ile2638Ser)
|
rs2151583287
|
|
NM_001042492.3(NF1):c.7947_7948del (p.Phe2650fs)
|
rs2070298589
|
|
NM_001042492.3(NF1):c.7949_7950del (p.Phe2650fs)
|
rs2070298779
|
|
NM_001042492.3(NF1):c.7950T>C (p.Phe2650=)
|
rs1597866963
|
|
NM_001042492.3(NF1):c.7950del (p.Val2653fs)
|
rs2070298779
|
|
NM_001042492.3(NF1):c.7955A>G (p.Lys2652Arg)
|
rs1597866986
|
|
NM_001042492.3(NF1):c.7960_7963del (p.Phe2654fs)
|
|
|
NM_001042492.3(NF1):c.7962T>G (p.Phe2654Leu)
|
rs1597867008
|
|
NM_001042492.3(NF1):c.7963C>A (p.Pro2655Thr)
|
rs587781791
|
|
NM_001042492.3(NF1):c.7963C>T (p.Pro2655Ser)
|
rs587781791
|
|
NM_001042492.3(NF1):c.7964del (p.Pro2655fs)
|
rs1567627268
|
|
NM_001042492.3(NF1):c.7966G>A (p.Val2656Ile)
|
|
|
NM_001042492.3(NF1):c.7970+1G>A
|
rs1555536773
|
|
NM_001042492.3(NF1):c.7970+4_7970+7del
|
rs1064794279
|
|
NM_001042492.3(NF1):c.7970+5G>A
|
rs1567627286
|
|
NM_001042492.3(NF1):c.7970+5G>T
|
rs1567627286
|
|
NM_001042492.3(NF1):c.7970+7A>G
|
rs1597867052
|
|
NM_001042492.3(NF1):c.7971-7C>T
|
rs754359027
|
|
NM_001042492.3(NF1):c.7971-8del
|
rs564545012
|
|
NM_001042492.3(NF1):c.7971-8dup
|
rs564545012
|
|
NM_001042492.3(NF1):c.797T>G (p.Val266Gly)
|
rs2143785789
|
|
NM_001042492.3(NF1):c.7986C>T (p.Asp2662=)
|
rs876658550
|
|
NM_001042492.3(NF1):c.79C>T (p.Gln27Ter)
|
rs1060500363
|
|
NM_001042492.3(NF1):c.801G>A (p.Trp267Ter)
|
rs1064794273
|
|
NM_001042492.3(NF1):c.8059_8060del (p.Ser2687fs)
|
rs1060500387
|
|
NM_001042492.3(NF1):c.8095C>T (p.Gln2699Ter)
|
rs786203443
|
|
NM_001042492.3(NF1):c.809A>C (p.Gln270Pro)
|
|
|
NM_001042492.3(NF1):c.8104T>C (p.Tyr2702His)
|
|
|
NM_001042492.3(NF1):c.8107C>A (p.Leu2703Met)
|
rs955074155
|
|
NM_001042492.3(NF1):c.8113+22del
|
rs563852879
|
|
NM_001042492.3(NF1):c.8114-3C>G
|
|
|
NM_001042492.3(NF1):c.8138G>A (p.Arg2713Gln)
|
rs1170836879
|
|
NM_001042492.3(NF1):c.8139_8143del (p.Phe2714fs)
|
|
|
NM_001042492.3(NF1):c.8162A>G (p.Gln2721Arg)
|
rs876657933
|
|
NM_001042492.3(NF1):c.8183C>T (p.Ala2728Val)
|
rs760973918
|
|
NM_001042492.3(NF1):c.818del (p.Leu273fs)
|
rs2143786053
|
|
NM_001042492.3(NF1):c.821T>A (p.Leu274His)
|
rs2066157974
|
|
NM_001042492.3(NF1):c.821T>G (p.Leu274Arg)
|
rs2066157974
|
|
NM_001042492.3(NF1):c.8222C>T (p.Thr2741Met)
|
rs144178015
|
|
NM_001042492.3(NF1):c.8323A>T (p.Asn2775Tyr)
|
rs1555537252
|
|
NM_001042492.3(NF1):c.8357C>T (p.Ala2786Val)
|
rs2070377037
|
|
NM_001042492.3(NF1):c.8367G>A (p.Gln2789=)
|
rs786201780
|
|
NM_001042492.3(NF1):c.8376A>C (p.Pro2792=)
|
rs1028961967
|
|
NM_001042492.3(NF1):c.8378-239T>C
|
rs17879319
|
|
NM_001042492.3(NF1):c.8382C>T (p.Ile2794=)
|
rs1060503890
|
|
NM_001042492.3(NF1):c.8408C>T (p.Pro2803Leu)
|
rs2151601322
|
|
NM_001042492.3(NF1):c.8412C>T (p.Thr2804=)
|
rs1555538531
|
|
NM_001042492.3(NF1):c.843_844delinsTT (p.Gln282Ter)
|
rs2143786391
|
|
NM_001042492.3(NF1):c.844C>T (p.Gln282Ter)
|
rs753054046
|
|
NM_001042492.3(NF1):c.8452G>A (p.Ala2818Thr)
|
rs771006452
|
|
NM_001042492.3(NF1):c.8469G>A (p.Lys2823=)
|
rs1203883572
|
|
NM_001042492.3(NF1):c.8477G>C (p.Ser2826Thr)
|
rs1057523477
|
|
NM_001042492.3(NF1):c.8497A>C (p.Asn2833His)
|
rs786202863
|
|
NM_001042492.3(NF1):c.872A>C (p.Glu291Ala)
|
rs876660171
|
|
NM_001042492.3(NF1):c.888+101C>T
|
|
|
NM_001042492.3(NF1):c.888+2T>G
|
rs2066160116
|
|
NM_001042492.3(NF1):c.888+634dup
|
rs58707782
|
|
NM_001042492.3(NF1):c.888+789A>G
|
rs1597660974
|
|
NM_001042492.3(NF1):c.889-11_889-6delinsAAATT
|
rs2143871690
|
|
NM_001042492.3(NF1):c.889-182dup
|
rs35966725
|
|
NM_001042492.3(NF1):c.889-21C>A
|
rs753797445
|
|
NM_001042492.3(NF1):c.889-284dup
|
rs368497246
|
|
NM_001042492.3(NF1):c.889-2A>G
|
rs878853922
|
|
NM_001042492.3(NF1):c.889-948T>C
|
|
|
NM_001042492.3(NF1):c.88A>C (p.Thr30Pro)
|
rs1555604881
|
|
NM_001042492.3(NF1):c.88A>G (p.Thr30Ala)
|
|
|
NM_001042492.3(NF1):c.895T>C (p.Phe299Leu)
|
rs2143872037
|
|
NM_001042492.3(NF1):c.899T>C (p.Leu300Pro)
|
rs2066505649
|
|
NM_001042492.3(NF1):c.901G>A (p.Asp301Asn)
|
rs2066505718
|
|
NM_001042492.3(NF1):c.902A>T (p.Asp301Val)
|
|
|
NM_001042492.3(NF1):c.907_908del (p.Leu303fs)
|
|
|
NM_001042492.3(NF1):c.908T>C (p.Leu303Pro)
|
|
|
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter)
|
rs786203950
|
|
NM_001042492.3(NF1):c.913A>G (p.Lys305Glu)
|
rs1567835041
|
|
NM_001042492.3(NF1):c.91_92del (p.His31fs)
|
rs1567814432
|
|
NM_001042492.3(NF1):c.923C>G (p.Ala308Gly)
|
rs876660836
|
|
NM_001042492.3(NF1):c.926del (p.Gly309fs)
|
rs1597680816
|
|
NM_001042492.3(NF1):c.92A>G (p.His31Arg)
|
rs199474725
|
|
NM_001042492.3(NF1):c.943C>T (p.Gln315Ter)
|
rs766011053
|
|
NM_001042492.3(NF1):c.950_953dup (p.Glu318fs)
|
rs1555610879
|
|
NM_001042492.3(NF1):c.952_953del (p.Glu318fs)
|
rs2066507116
|
|
NM_001042492.3(NF1):c.955A>G (p.Ser319Gly)
|
|
|
NM_001042492.3(NF1):c.958G>C (p.Ala320Pro)
|
rs2066507272
|
|
NM_001042492.3(NF1):c.958_959delinsTT (p.Ala320Phe)
|
|
|
NM_001042492.3(NF1):c.965T>C (p.Ile322Thr)
|
rs1417994243
|
|
NM_001042492.3(NF1):c.970T>C (p.Cys324Arg)
|
rs199474735
|
|
NM_001042492.3(NF1):c.972T>A (p.Cys324Ter)
|
rs1597680938
|
|
NM_001042492.3(NF1):c.975C>T (p.Val325=)
|
rs747954452
|
|
NM_001042492.3(NF1):c.978dup (p.Leu327fs)
|
rs2066507887
|
|
NM_001042492.3(NF1):c.980T>C (p.Leu327Pro)
|
rs201624827
|
|
NM_001042492.3(NF1):c.983G>A (p.Cys328Tyr)
|
rs2143873368
|
|
NM_001042492.3(NF1):c.983_984del (p.Leu327_Cys328insTer)
|
rs1555610893
|
|
NM_001042492.3(NF1):c.988G>A (p.Ala330Thr)
|
rs199474767
|
|
NM_001042492.3(NF1):c.988G>C (p.Ala330Pro)
|
rs199474767
|
|
NM_001042492.3(NF1):c.989C>T (p.Ala330Val)
|
rs1555610898
|
|
NM_001042492.3(NF1):c.999C>T (p.Tyr333=)
|
rs1466912192
|
|
NM_001042492.3(NF1):c.999del (p.Thr332_Tyr333insTer)
|
rs2143873634
|
|