NM_001042492.3(NF1):c.7189+37C>G
|
rs7405740
|
0.88082
|
NM_001042492.3(NF1):c.*2829T>C
|
rs1048317
|
0.65846
|
NM_001042492.3(NF1):c.5268+23T>C
|
rs9894648
|
0.65316
|
NM_001042492.3(NF1):c.702G>A (p.Leu234=)
|
rs1801052
|
0.56607
|
NM_001042492.3(NF1):c.288+41G>A
|
rs2952976
|
0.56461
|
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.5609+19T>A
|
rs2285894
|
0.49901
|
NM_001042492.3(NF1):c.7458-29G>A
|
rs964288
|
0.49344
|
NM_001042492.3(NF1):c.*2265C>G
|
rs1800845
|
0.49084
|
NM_001042492.3(NF1):c.*2201G>A
|
rs7406983
|
0.46089
|
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.6642+45T>A
|
rs17883614
|
0.12771
|
NM_001042492.3(NF1):c.4431-46G>C
|
rs17881285
|
0.05624
|
NM_001042492.3(NF1):c.2544G>A (p.Gly848=)
|
rs17883704
|
0.02535
|
NM_001042492.3(NF1):c.*2089G>A
|
rs17881973
|
0.02271
|
NM_001042492.3(NF1):c.4882T>C (p.Leu1628=)
|
rs10512435
|
0.02270
|
NM_001042492.3(NF1):c.7971-19G>T
|
rs17887156
|
0.01950
|
NM_001042492.3(NF1):c.2851-16T>C
|
rs17880825
|
0.01543
|
NM_001042492.3(NF1):c.4929G>A (p.Val1643=)
|
rs17880521
|
0.01527
|
NM_001042492.3(NF1):c.*873A>T
|
rs3058624
|
0.01500
|
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.*871del
|
rs759306393
|
0.01272
|
NM_001042492.3(NF1):c.7755C>T (p.Ser2585=)
|
rs17881980
|
0.01075
|
NM_001042492.3(NF1):c.4578-39A>G
|
rs8072417
|
0.01018
|
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.4835+36T>C
|
rs16972128
|
0.00844
|
NM_001042492.3(NF1):c.*498T>G
|
rs9900729
|
0.00833
|
NM_001042492.3(NF1):c.7322-17C>T
|
rs17884859
|
0.00744
|
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.2252-31A>T
|
rs141082540
|
0.00355
|
NM_001042492.3(NF1):c.4577+12C>T
|
rs17878332
|
0.00352
|
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.5035A>G (p.Ile1679Val)
|
rs147327414
|
0.00195
|
NM_001042492.3(NF1):c.*126G>A
|
rs184715593
|
0.00185
|
NM_001042492.3(NF1):c.8161-45A>C
|
rs17879551
|
0.00176
|
NM_001042492.3(NF1):c.*582T>G
|
rs532984264
|
0.00169
|
NM_001042492.3(NF1):c.*1481A>G
|
rs150702919
|
0.00160
|
NM_001042492.3(NF1):c.846G>A (p.Gln282=)
|
rs138840528
|
0.00149
|
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.*29A>G
|
rs139147882
|
0.00096
|
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.*3189G>A
|
rs548353495
|
0.00071
|
NM_001042492.3(NF1):c.*875T>A
|
rs886052806
|
0.00070
|
NM_001042492.3(NF1):c.*971T>A
|
rs147515257
|
0.00069
|
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val)
|
rs148154172
|
0.00066
|
NM_001042492.3(NF1):c.*2566C>T
|
rs545937364
|
0.00053
|
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=)
|
rs2285895
|
0.00050
|
NM_001042492.3(NF1):c.731-6A>C
|
rs369366499
|
0.00037
|
NM_001042492.3(NF1):c.*1164G>A
|
rs140110377
|
0.00034
|
NM_001042492.3(NF1):c.*3091A>C
|
rs570154156
|
0.00032
|
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.8041A>G (p.Ile2681Val)
|
rs146315101
|
0.00031
|
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.*2247T>C
|
rs745818146
|
0.00021
|
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=)
|
rs142636150
|
0.00020
|
NM_001042492.3(NF1):c.*1208C>T
|
rs556230487
|
0.00019
|
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.*3266G>A
|
rs548117626
|
0.00018
|
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.7368A>G (p.Lys2456=)
|
rs201287021
|
0.00014
|
NM_001042492.3(NF1):c.*3227A>G
|
rs1050612282
|
0.00013
|
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=)
|
rs371581213
|
0.00013
|
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=)
|
rs140994965
|
0.00012
|
NM_001042492.3(NF1):c.1005T>C (p.Asn335=)
|
rs777369021
|
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.*160A>T
|
rs17882413
|
0.00009
|
NM_001042492.3(NF1):c.*3248G>A
|
rs527971565
|
0.00009
|
NM_001042492.3(NF1):c.4724+11A>G
|
rs368649260
|
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.*541G>A
|
rs563100361
|
0.00008
|
NM_001042492.3(NF1):c.6171A>T (p.Ile2057=)
|
rs140733963
|
0.00008
|
NM_001042492.3(NF1):c.1392+5G>T
|
rs199999754
|
0.00007
|
NM_001042492.3(NF1):c.1392+6A>T
|
rs200798969
|
0.00007
|
NM_001042492.3(NF1):c.3727C>T (p.Leu1243=)
|
rs750993436
|
0.00007
|
NM_001042492.3(NF1):c.*101T>C
|
rs962788938
|
0.00006
|
NM_001042492.3(NF1):c.6033A>G (p.Leu2011=)
|
rs147995863
|
0.00006
|
NM_001042492.3(NF1):c.7870-8C>A
|
rs372441422
|
0.00006
|
NM_001042492.3(NF1):c.1166A>G (p.His389Arg)
|
rs149739570
|
0.00005
|
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser)
|
rs138227618
|
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.*1202A>C
|
rs886052807
|
0.00004
|
NM_001042492.3(NF1):c.*2071G>A
|
rs886052811
|
0.00004
|
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)
|
rs143836226
|
0.00004
|
NM_001042492.3(NF1):c.61-9T>C
|
rs780956522
|
0.00004
|
NM_001042492.3(NF1):c.6600A>C (p.Thr2200=)
|
rs747576584
|
0.00004
|
NM_001042492.3(NF1):c.6643-13T>C
|
rs764601493
|
0.00004
|
NM_001042492.3(NF1):c.*2073T>C
|
rs139460673
|
0.00003
|
NM_001042492.3(NF1):c.*4T>C
|
rs201044568
|
0.00003
|
NM_001042492.3(NF1):c.*506T>A
|
rs886052804
|
0.00003
|
NM_001042492.3(NF1):c.1308G>A (p.Ser436=)
|
rs765425127
|
0.00003
|
NM_001042492.3(NF1):c.3315-8T>C
|
rs764783865
|
0.00003
|
NM_001042492.3(NF1):c.864G>C (p.Val288=)
|
rs201181517
|
0.00003
|
NM_001042492.3(NF1):c.*194A>C
|
rs1445645953
|
0.00002
|
NM_001042492.3(NF1):c.*2540T>G
|
rs896039933
|
0.00002
|
NM_001042492.3(NF1):c.2023G>A (p.Gly675Arg)
|
rs779546178
|
0.00002
|
NM_001042492.3(NF1):c.6378C>T (p.Val2126=)
|
rs760941036
|
0.00002
|
NM_001042492.3(NF1):c.7457+8G>T
|
rs376147282
|
0.00002
|
NM_001042492.3(NF1):c.*1150C>T
|
rs577642473
|
0.00001
|
NM_001042492.3(NF1):c.*1187C>A
|
rs1184430338
|
0.00001
|
NM_001042492.3(NF1):c.*124C>T
|
rs535911128
|
0.00001
|
NM_001042492.3(NF1):c.*887C>G
|
rs2070712503
|
0.00001
|
NM_001042492.3(NF1):c.1444A>G (p.Thr482Ala)
|
rs770201871
|
0.00001
|
NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg)
|
rs140653372
|
0.00001
|
NM_001042492.3(NF1):c.205-13T>A
|
rs886052797
|
0.00001
|
NM_001042492.3(NF1):c.2378A>C (p.Asn793Thr)
|
rs772543826
|
0.00001
|
NM_001042492.3(NF1):c.2794A>G (p.Met932Val)
|
rs886052800
|
0.00001
|
NM_001042492.3(NF1):c.3039G>A (p.Thr1013=)
|
rs876660168
|
0.00001
|
NM_001042492.3(NF1):c.3303G>A (p.Gln1101=)
|
rs876659944
|
0.00001
|
NM_001042492.3(NF1):c.354C>T (p.Cys118=)
|
rs768777585
|
0.00001
|
NM_001042492.3(NF1):c.3891A>G (p.Leu1297=)
|
rs753036396
|
0.00001
|
NM_001042492.3(NF1):c.3906T>G (p.Asp1302Glu)
|
rs549058591
|
0.00001
|
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp)
|
rs773378630
|
0.00001
|
NM_001042492.3(NF1):c.5280T>C (p.Thr1760=)
|
rs779104728
|
0.00001
|
NM_001042492.3(NF1):c.6006+4T>C
|
rs754909198
|
0.00001
|
NM_001042492.3(NF1):c.6189A>G (p.Leu2063=)
|
rs1060503911
|
0.00001
|
NM_001042492.3(NF1):c.681T>C (p.Tyr227=)
|
rs745804540
|
0.00001
|
NM_001042492.3(NF1):c.6927G>A (p.Ser2309=)
|
rs763028083
|
0.00001
|
NM_001042492.3(NF1):c.7110C>T (p.His2370=)
|
rs201881479
|
0.00001
|
NM_001042492.3(NF1):c.730+16dup
|
rs373999174
|
0.00001
|
NM_001042492.3(NF1):c.7305C>T (p.Ser2435=)
|
rs369754180
|
0.00001
|
NM_001042492.3(NF1):c.7525C>T (p.Pro2509Ser)
|
rs886052803
|
0.00001
|
NM_001042492.3(NF1):c.7616-15A>C
|
rs952554990
|
0.00001
|
NM_001042492.3(NF1):c.*125del
|
rs397754615
|
|
NM_001042492.3(NF1):c.*1425C>T
|
rs886052808
|
|
NM_001042492.3(NF1):c.*1446T>C
|
rs886052809
|
|
NM_001042492.3(NF1):c.*1479A>C
|
rs866235175
|
|
NM_001042492.3(NF1):c.*1987C>T
|
rs886052810
|
|
NM_001042492.3(NF1):c.*2010A>G
|
rs2070728204
|
|
NM_001042492.3(NF1):c.*2132T>C
|
rs551806545
|
|
NM_001042492.3(NF1):c.*2215_*2219del
|
rs201032889
|
|
NM_001042492.3(NF1):c.*2638_*2646delinsTTATG
|
rs886052813
|
|
NM_001042492.3(NF1):c.*2777C>A
|
rs185015732
|
|
NM_001042492.3(NF1):c.*2777C>T
|
rs185015732
|
|
NM_001042492.3(NF1):c.*2884T>A
|
rs886052814
|
|
NM_001042492.3(NF1):c.*3174A>C
|
rs886052815
|
|
NM_001042492.3(NF1):c.*3514G>A
|
rs574282086
|
|
NM_001042492.3(NF1):c.*3514G>C
|
rs574282086
|
|
NM_001042492.3(NF1):c.*3514G>T
|
rs574282086
|
|
NM_001042492.3(NF1):c.*385C>T
|
rs1597883440
|
|
NM_001042492.3(NF1):c.*584G>C
|
rs190144445
|
|
NM_001042492.3(NF1):c.*584G>T
|
rs190144445
|
|
NM_001042492.3(NF1):c.*585G>A
|
rs372804411
|
|
NM_001042492.3(NF1):c.*585G>T
|
rs372804411
|
|
NM_001042492.3(NF1):c.*859AT[7]
|
rs369548314
|
|
NM_001042492.3(NF1):c.*859AT[9]
|
rs369548314
|
|
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro)
|
rs137854563
|
|
NM_001042492.3(NF1):c.1649T>C (p.Leu550Pro)
|
rs886052798
|
|
NM_001042492.3(NF1):c.1846-8T>A
|
rs886052799
|
|
NM_001042492.3(NF1):c.1866T>C (p.Cys622=)
|
rs753245823
|
|
NM_001042492.3(NF1):c.1873del (p.Leu625fs)
|
|
|
NM_001042492.3(NF1):c.2226C>G (p.Ala742=)
|
rs1060503912
|
|
NM_001042492.3(NF1):c.2409+15T>C
|
rs2067039946
|
|
NM_001042492.3(NF1):c.270G>A (p.Leu90=)
|
rs2065717955
|
|
NM_001042492.3(NF1):c.3213A>G (p.Ala1071=)
|
rs786202077
|
|
NM_001042492.3(NF1):c.3975-12A>G
|
rs750100751
|
|
NM_001042492.3(NF1):c.4530A>G (p.Leu1510=)
|
rs876660089
|
|
NM_001042492.3(NF1):c.5496A>G (p.Glu1832=)
|
rs1555533613
|
|
NM_001042492.3(NF1):c.5517C>A (p.Ile1839=)
|
rs865839207
|
|
NM_001042492.3(NF1):c.6007-5A>G
|
rs267606604
|
|
NM_001042492.3(NF1):c.61-4del
|
rs551568608
|
|
NM_001042492.3(NF1):c.6147+8C>G
|
rs182709912
|
|
NM_001042492.3(NF1):c.624G>A (p.Ala208=)
|
rs370184932
|
|
NM_001042492.3(NF1):c.6263T>C (p.Leu2088Pro)
|
rs137854561
|
|
NM_001042492.3(NF1):c.6555G>A (p.Arg2185=)
|
rs786203189
|
|
NM_001042492.3(NF1):c.6630G>A (p.Leu2210=)
|
rs886052801
|
|
NM_001042492.3(NF1):c.7007C>A (p.Ala2336Glu)
|
rs886052802
|
|
NM_001042492.3(NF1):c.7189+3A>C
|
rs267606610
|
|
NM_001042492.3(NF1):c.7246C>T (p.Leu2416=)
|
rs786201310
|
|
NM_001042492.3(NF1):c.7767G>C (p.Gln2589His)
|
rs587782168
|
|
NM_001042492.3(NF1):c.8105dup (p.Tyr2702Ter)
|
rs267606601
|
|
NM_001042492.3(NF1):c.8161-8C>T
|
rs1425972521
|
|