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.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.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.8113+20G>A
|
rs55747230
|
0.01406
|
NM_001042492.3(NF1):c.168C>T (p.Ser56=)
|
rs17881168
|
0.01374
|
NM_001042492.3(NF1):c.7755C>T (p.Ser2585=)
|
rs17881980
|
0.01075
|
NM_001042492.3(NF1):c.1845+13A>T
|
rs17885739
|
0.01016
|
NM_001042492.3(NF1):c.2022C>T (p.Ser674=)
|
rs2230851
|
0.00908
|
NM_001042492.3(NF1):c.7322-17C>T
|
rs17884859
|
0.00744
|
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.2985G>C (p.Leu995=)
|
rs17881467
|
0.00426
|
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)
|
rs112306990
|
0.00398
|
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.2252-31A>T
|
rs141082540
|
0.00355
|
NM_001042492.3(NF1):c.6148-30T>A
|
rs199874130
|
0.00348
|
NM_001042492.3(NF1):c.340C>T (p.Leu114=)
|
rs7207410
|
0.00309
|
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=)
|
rs17887014
|
0.00305
|
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.846G>A (p.Gln282=)
|
rs138840528
|
0.00149
|
NM_001042492.3(NF1):c.1810T>C (p.Leu604=)
|
rs142712751
|
0.00123
|
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.7595C>T (p.Ala2532Val)
|
rs148154172
|
0.00066
|
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.7461A>G (p.Thr2487=)
|
rs149924365
|
0.00052
|
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=)
|
rs2285895
|
0.00050
|
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.*871A>T
|
rs568276164
|
0.00028
|
NM_001042492.3(NF1):c.369C>G (p.Thr123=)
|
rs146691765
|
0.00024
|
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu)
|
rs148736217
|
0.00015
|
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=)
|
rs201287021
|
0.00014
|
NM_001042492.3(NF1):c.1541A>C (p.Gln514Pro)
|
rs775369084
|
0.00001
|
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(chr17:29507565-29569315)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
|
|
|
NC_000017.11:g.31378926C>T
|
|
|
NM_000267.3(NF1):c.730+32dup
|
rs71142032
|
|
NM_001042492.3(NF1):c.*879del
|
|
|
NM_001042492.3(NF1):c.1186-13del
|
rs763903212
|
|
NM_001042492.3(NF1):c.1392+303_1392+317del
|
rs17884042
|
|
NM_001042492.3(NF1):c.1393-408T>C
|
rs2952995
|
|
NM_001042492.3(NF1):c.1527+1519dup
|
|
|
NM_001042492.3(NF1):c.1528-29dup
|
rs398119783
|
|
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.2002-330A>G
|
rs17887242
|
|
NM_001042492.3(NF1):c.3197+350T>G
|
rs1235639
|
|
NM_001042492.3(NF1):c.3198-4del
|
rs371047262
|
|
NM_001042492.3(NF1):c.3198-4dup
|
rs371047262
|
|
NM_001042492.3(NF1):c.3198-5_3198-4dup
|
rs371047262
|
|
NM_001042492.3(NF1):c.3974+37_3974+38insG
|
rs1555615580
|
|
NM_001042492.3(NF1):c.3974+601del
|
rs60376313
|
|
NM_001042492.3(NF1):c.5813-43A>G
|
|
|
NM_001042492.3(NF1):c.5813-625_5813-618del
|
rs17882240
|
|
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.61-4del
|
rs551568608
|
|
NM_001042492.3(NF1):c.61-4dup
|
rs551568608
|
|
NM_001042492.3(NF1):c.61-7573dup
|
rs71142023
|
|
NM_001042492.3(NF1):c.6147+8C>G
|
rs182709912
|
|
NM_001042492.3(NF1):c.6148-17dup
|
rs33925668
|
|
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.6148-30_6148-28del
|
|
|
NM_001042492.3(NF1):c.655-35A>C
|
|
|
NM_001042492.3(NF1):c.6922-14_6922-13del
|
rs146785663
|
|
NM_001042492.3(NF1):c.7062+215dup
|
rs1051607259
|
|
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[5]
|
rs149197458
|
|
NM_001042492.3(NF1):c.7190-33TTGT[7]
|
rs149197458
|
|
NM_001042492.3(NF1):c.730+2T>G
|
rs200962248
|
|
NM_001042492.3(NF1):c.7616-288G>T
|
rs17879350
|
|
NM_001042492.3(NF1):c.7971-8del
|
rs564545012
|
|
NM_001042492.3(NF1):c.8378-239T>C
|
rs17879319
|
|
NM_001042492.3(NF1):c.888+101C>T
|
|
|
NM_001042492.3(NF1):c.889-182dup
|
rs35966725
|
|