ClinVar Miner

List of variants in gene NF1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2110
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HGVS dbSNP gnomAD frequency
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

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