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.6148-28T>A
|
rs7406039
|
0.52859
|
NM_001042492.3(NF1):c.6148-29T>A
|
rs7406038
|
0.51122
|
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.*873A>T
|
rs3058624
|
0.01966
|
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.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
|
0.01312
|
NM_001042492.3(NF1):c.3974+38T>G
|
rs9894862
|
0.01144
|
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.3496+19T>C
|
rs9890283
|
0.00673
|
NM_001042492.3(NF1):c.6393C>T (p.His2131=)
|
rs17881788
|
0.00655
|
NM_001042492.3(NF1):c.3198-3C>T
|
rs777759972
|
0.00502
|
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.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.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.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.7062+210_7062+211insC
|
rs1555535216
|
0.00177
|
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.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.*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.*875T>A
|
rs886052806
|
0.00080
|
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.*971T>A
|
rs147515257
|
0.00069
|
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val)
|
rs148154172
|
0.00066
|
NM_001042492.3(NF1):c.3198-3dup
|
rs1555614816
|
0.00063
|
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.6147+11T>C
|
rs201275748
|
0.00058
|
NM_001042492.3(NF1):c.*2566C>T
|
rs545937364
|
0.00053
|
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.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.2850+17T>C
|
rs1410636379
|
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.1137C>T (p.Cys379=)
|
rs139648455
|
0.00031
|
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val)
|
rs146315101
|
0.00031
|
NM_001042492.3(NF1):c.6922-16A>G
|
rs202158964
|
0.00030
|
NM_001042492.3(NF1):c.1976G>A (p.Arg659Gln)
|
rs151138158
|
0.00029
|
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.61-19T>C
|
rs185325140
|
0.00025
|
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.*2247T>C
|
rs745818146
|
0.00021
|
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.*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.3672G>A (p.Ala1224=)
|
rs151293900
|
0.00018
|
NM_001042492.3(NF1):c.654+28A>G
|
rs372419907
|
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.3708+19C>T
|
rs371590712
|
0.00014
|
NM_001042492.3(NF1):c.3871-15C>T
|
rs200104394
|
0.00014
|
NM_001042492.3(NF1):c.655-37A>C
|
rs375655707
|
0.00014
|
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.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.3974+141T>C
|
rs779226804
|
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.1005T>C (p.Asn335=)
|
rs777369021
|
0.00011
|
NM_001042492.3(NF1):c.3621A>G (p.Arg1207=)
|
rs141390152
|
0.00011
|
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys)
|
rs377662483
|
0.00011
|
NM_001042492.3(NF1):c.960T>A (p.Ala320=)
|
rs376447070
|
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.*160A>T
|
rs17882413
|
0.00009
|
NM_001042492.3(NF1):c.*3248G>A
|
rs527971565
|
0.00009
|
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.*541G>A
|
rs563100361
|
0.00008
|
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.1392+5G>T
|
rs199999754
|
0.00007
|
NM_001042492.3(NF1):c.1392+6A>T
|
rs200798969
|
0.00007
|
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.3727C>T (p.Leu1243=)
|
rs750993436
|
0.00007
|
NM_001042492.3(NF1):c.4803T>C (p.Ala1601=)
|
rs148662566
|
0.00007
|
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile)
|
rs376655102
|
0.00007
|
NM_001042492.3(NF1):c.*101T>C
|
rs962788938
|
0.00006
|
NM_001042492.3(NF1):c.*1A>C
|
rs876658388
|
0.00006
|
NM_001042492.3(NF1):c.1186-19T>A
|
rs772566923
|
0.00006
|
NM_001042492.3(NF1):c.1528-14T>C
|
rs368116557
|
0.00006
|
NM_001042492.3(NF1):c.3217A>G (p.Met1073Val)
|
rs199474740
|
0.00006
|
NM_001042492.3(NF1):c.3496+13G>T
|
rs755160223
|
0.00006
|
NM_001042492.3(NF1):c.3686A>G (p.Asn1229Ser)
|
rs140523180
|
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.7063-15G>A
|
rs375376967
|
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.2326-13G>C
|
rs770203564
|
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.479+20T>A
|
rs771415669
|
0.00005
|
NM_001042492.3(NF1):c.5523A>G (p.Gln1841=)
|
rs151046636
|
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.7245A>G (p.Thr2415=)
|
rs539553128
|
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.*506T>A
|
rs886052804
|
0.00004
|
NM_001042492.3(NF1):c.1062+67T>C
|
rs757368493
|
0.00004
|
NM_001042492.3(NF1):c.1806A>G (p.Glu602=)
|
rs370454753
|
0.00004
|
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.2592C>T (p.Ser864=)
|
rs761499485
|
0.00004
|
NM_001042492.3(NF1):c.2851-15T>G
|
rs371120423
|
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.3342G>A (p.Leu1114=)
|
rs1172575807
|
0.00004
|
NM_001042492.3(NF1):c.3358G>C (p.Val1120Leu)
|
rs200594167
|
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.3690G>T (p.Val1230=)
|
rs183296277
|
0.00004
|
NM_001042492.3(NF1):c.3708+11A>C
|
rs373751277
|
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.4445T>C (p.Ile1482Thr)
|
rs746994734
|
0.00004
|
NM_001042492.3(NF1):c.4724+12C>T
|
rs747166610
|
0.00004
|
NM_001042492.3(NF1):c.4767G>A (p.Thr1589=)
|
rs376659579
|
0.00004
|
NM_001042492.3(NF1):c.4835+13A>G
|
rs1034258238
|
0.00004
|
NM_001042492.3(NF1):c.4835+14T>C
|
rs758851307
|
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.5609+11T>A
|
rs759092552
|
0.00004
|
NM_001042492.3(NF1):c.5664C>T (p.Ile1888=)
|
rs373685150
|
0.00004
|
NM_001042492.3(NF1):c.5793T>C (p.Ile1931=)
|
rs779114598
|
0.00004
|
NM_001042492.3(NF1):c.5812+8A>G
|
rs372075322
|
0.00004
|
NM_001042492.3(NF1):c.5925T>C (p.Leu1975=)
|
rs375776474
|
0.00004
|
NM_001042492.3(NF1):c.61-9T>C
|
rs780956522
|
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.6600A>C (p.Thr2200=)
|
rs747576584
|
0.00004
|
NM_001042492.3(NF1):c.6628T>C (p.Leu2210=)
|
rs138265293
|
0.00004
|
NM_001042492.3(NF1):c.6642+13A>C
|
rs771917283
|
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.6750T>C (p.Val2250=)
|
rs762075320
|
0.00004
|
NM_001042492.3(NF1):c.7046G>A (p.Arg2349His)
|
rs864622065
|
0.00004
|
NM_001042492.3(NF1):c.7528A>G (p.Thr2510Ala)
|
rs145794301
|
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.889-17A>G
|
rs371265998
|
0.00004
|
NM_001042492.3(NF1):c.898C>T (p.Leu300=)
|
rs786201926
|
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.100G>A (p.Val34Ile)
|
rs772995929
|
0.00003
|
NM_001042492.3(NF1):c.1182T>C (p.Phe394=)
|
rs786202581
|
0.00003
|
NM_001042492.3(NF1):c.1185+10T>C
|
rs759048037
|
0.00003
|
NM_001042492.3(NF1):c.1261-16C>T
|
rs911130524
|
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.178A>G (p.Thr60Ala)
|
rs546729596
|
0.00003
|
NM_001042492.3(NF1):c.1884C>T (p.Tyr628=)
|
rs555635097
|
0.00003
|
NM_001042492.3(NF1):c.1975C>T (p.Arg659Trp)
|
rs757512142
|
0.00003
|
NM_001042492.3(NF1):c.2181A>G (p.Ser727=)
|
rs1203116843
|
0.00003
|
NM_001042492.3(NF1):c.2409+17G>C
|
rs373870002
|
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.2856A>C (p.Leu952Phe)
|
rs750488772
|
0.00003
|
NM_001042492.3(NF1):c.2916A>C (p.Leu972=)
|
rs1210119104
|
0.00003
|
NM_001042492.3(NF1):c.2999G>A (p.Arg1000His)
|
rs753082620
|
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.3871-14G>A
|
rs371895592
|
0.00003
|
NM_001042492.3(NF1):c.4185G>T (p.Gln1395His)
|
rs775206746
|
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.4878T>C (p.His1626=)
|
rs374589653
|
0.00003
|
NM_001042492.3(NF1):c.4942A>G (p.Thr1648Ala)
|
rs770558820
|
0.00003
|
NM_001042492.3(NF1):c.5269-18G>A
|
rs371616556
|
0.00003
|
NM_001042492.3(NF1):c.5424G>A (p.Thr1808=)
|
rs765841113
|
0.00003
|
NM_001042492.3(NF1):c.5553T>C (p.Pro1851=)
|
rs974310759
|
0.00003
|
NM_001042492.3(NF1):c.5649C>T (p.Thr1883=)
|
rs139696493
|
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.6082G>A (p.Ala2028Thr)
|
rs767869530
|
0.00003
|
NM_001042492.3(NF1):c.6148-13T>A
|
rs1411146465
|
0.00003
|
NM_001042492.3(NF1):c.624G>T (p.Ala208=)
|
rs370184932
|
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.6696A>C (p.Leu2232=)
|
rs1265616273
|
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.7185A>G (p.Leu2395=)
|
rs1172296616
|
0.00003
|
NM_001042492.3(NF1):c.7189+7A>G
|
rs767151173
|
0.00003
|
NM_001042492.3(NF1):c.7457+17T>C
|
rs142843549
|
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.8223G>C (p.Thr2741=)
|
rs777755159
|
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.8484C>T (p.Gly2828=)
|
rs143289497
|
0.00003
|
NM_001042492.3(NF1):c.861C>T (p.Asp287=)
|
rs749949219
|
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.105T>C (p.Ser35=)
|
rs370026303
|
0.00002
|
NM_001042492.3(NF1):c.1063-14T>C
|
rs538708444
|
0.00002
|
NM_001042492.3(NF1):c.1134C>T (p.Asp378=)
|
rs781367679
|
0.00002
|
NM_001042492.3(NF1):c.1213A>G (p.Thr405Ala)
|
rs587782233
|
0.00002
|
NM_001042492.3(NF1):c.1223A>G (p.Tyr408Cys)
|
rs876660344
|
0.00002
|
NM_001042492.3(NF1):c.1247G>A (p.Arg416Gln)
|
rs1343309278
|
0.00002
|
NM_001042492.3(NF1):c.1392+14C>T
|
rs1185092258
|
0.00002
|
NM_001042492.3(NF1):c.145T>A (p.Tyr49Asn)
|
rs764367878
|
0.00002
|
NM_001042492.3(NF1):c.1527+17G>A
|
rs751609545
|
0.00002
|
NM_001042492.3(NF1):c.1593A>G (p.Gln531=)
|
rs773712266
|
0.00002
|
NM_001042492.3(NF1):c.1620G>T (p.Glu540Asp)
|
rs766748586
|
0.00002
|
NM_001042492.3(NF1):c.1701A>G (p.Val567=)
|
rs786203819
|
0.00002
|
NM_001042492.3(NF1):c.171C>T (p.Gly57=)
|
rs876658709
|
0.00002
|
NM_001042492.3(NF1):c.1721+13T>G
|
rs777025327
|
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.212T>C (p.Phe71Ser)
|
rs752396270
|
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.2458G>A (p.Val820Met)
|
rs761408020
|
0.00002
|
NM_001042492.3(NF1):c.2547A>C (p.Gly849=)
|
rs748303121
|
0.00002
|
NM_001042492.3(NF1):c.2556C>T (p.Leu852=)
|
rs771308677
|
0.00002
|
NM_001042492.3(NF1):c.2617C>T (p.Arg873Cys)
|
rs199474739
|
0.00002
|
NM_001042492.3(NF1):c.264T>C (p.Asp88=)
|
rs1359209770
|
0.00002
|
NM_001042492.3(NF1):c.2819C>G (p.Thr940Ser)
|
rs368995630
|
0.00002
|
NM_001042492.3(NF1):c.2843A>G (p.Gln948Arg)
|
rs746384536
|
0.00002
|
NM_001042492.3(NF1):c.3063A>C (p.Val1021=)
|
rs768611775
|
0.00002
|
NM_001042492.3(NF1):c.3114-16C>T
|
rs555538591
|
0.00002
|
NM_001042492.3(NF1):c.3197+14G>T
|
rs764474296
|
0.00002
|
NM_001042492.3(NF1):c.3345T>C (p.Asn1115=)
|
rs1443772199
|
0.00002
|
NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val)
|
rs902739109
|
0.00002
|
NM_001042492.3(NF1):c.3441T>C (p.Leu1147=)
|
rs747330799
|
0.00002
|
NM_001042492.3(NF1):c.3497-18T>A
|
rs766124844
|
0.00002
|
NM_001042492.3(NF1):c.3678T>C (p.Ala1226=)
|
rs776473273
|
0.00002
|
NM_001042492.3(NF1):c.367A>G (p.Thr123Ala)
|
rs587781757
|
0.00002
|
NM_001042492.3(NF1):c.3684C>T (p.Ala1228=)
|
rs200276071
|
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.3974+18A>G
|
rs182168562
|
0.00002
|
NM_001042492.3(NF1):c.4009C>T (p.Arg1337Trp)
|
rs146306756
|
0.00002
|
NM_001042492.3(NF1):c.4110+4T>C
|
rs587781700
|
0.00002
|
NM_001042492.3(NF1):c.4262C>T (p.Pro1421Leu)
|
rs753997885
|
0.00002
|
NM_001042492.3(NF1):c.4285A>G (p.Lys1429Glu)
|
rs758915600
|
0.00002
|
NM_001042492.3(NF1):c.4286A>G (p.Lys1429Arg)
|
rs778056258
|
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.4426C>T (p.Arg1476Cys)
|
rs771420960
|
0.00002
|
NM_001042492.3(NF1):c.4434T>C (p.Phe1478=)
|
rs1310523976
|
0.00002
|
NM_001042492.3(NF1):c.4632A>G (p.Ala1544=)
|
rs781741727
|
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.479+7G>A
|
rs778398666
|
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.5263A>G (p.Ile1755Val)
|
rs370181275
|
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.5381T>C (p.Val1794Ala)
|
rs142867979
|
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.5676A>G (p.Leu1892=)
|
rs876658130
|
0.00002
|
NM_001042492.3(NF1):c.5680G>C (p.Glu1894Gln)
|
rs774893767
|
0.00002
|
NM_001042492.3(NF1):c.587-20A>T
|
rs776533188
|
0.00002
|
NM_001042492.3(NF1):c.5955A>G (p.Glu1985=)
|
rs369043956
|
0.00002
|
NM_001042492.3(NF1):c.6060A>G (p.Thr2020=)
|
rs761889172
|
0.00002
|
NM_001042492.3(NF1):c.623C>T (p.Ala208Val)
|
rs758624540
|
0.00002
|
NM_001042492.3(NF1):c.6264G>A (p.Leu2088=)
|
rs762751192
|
0.00002
|
NM_001042492.3(NF1):c.628T>C (p.Leu210=)
|
rs757812365
|
0.00002
|
NM_001042492.3(NF1):c.6378C>T (p.Val2126=)
|
rs760941036
|
0.00002
|
NM_001042492.3(NF1):c.6427+10A>G
|
rs763852229
|
0.00002
|
NM_001042492.3(NF1):c.6456T>C (p.Ser2152=)
|
rs776897972
|
0.00002
|
NM_001042492.3(NF1):c.6547C>A (p.Arg2183=)
|
rs760177417
|
0.00002
|
NM_001042492.3(NF1):c.6624T>C (p.Ala2208=)
|
rs746061888
|
0.00002
|
NM_001042492.3(NF1):c.6678G>A (p.Leu2226=)
|
rs959023829
|
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.7063-6T>C
|
rs780593077
|
0.00002
|
NM_001042492.3(NF1):c.7170G>A (p.Leu2390=)
|
rs751081026
|
0.00002
|
NM_001042492.3(NF1):c.7189+8A>G
|
rs750100211
|
0.00002
|
NM_001042492.3(NF1):c.7275T>C (p.Asn2425=)
|
rs1060503904
|
0.00002
|
NM_001042492.3(NF1):c.730+10C>T
|
rs750468471
|
0.00002
|
NM_001042492.3(NF1):c.7457+20T>A
|
rs778619964
|
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.7523A>G (p.Tyr2508Cys)
|
rs762169098
|
0.00002
|
NM_001042492.3(NF1):c.7615+7T>C
|
rs779078444
|
0.00002
|
NM_001042492.3(NF1):c.7838C>T (p.Pro2613Leu)
|
rs750972729
|
0.00002
|
NM_001042492.3(NF1):c.7851G>T (p.Ala2617=)
|
rs751273275
|
0.00002
|
NM_001042492.3(NF1):c.7869+6G>A
|
rs864622318
|
0.00002
|
NM_001042492.3(NF1):c.8073T>G (p.His2691Gln)
|
rs375468032
|
0.00002
|
NM_001042492.3(NF1):c.8113+11G>A
|
rs760053840
|
0.00002
|
NM_001042492.3(NF1):c.8139G>A (p.Arg2713=)
|
rs139527415
|
0.00002
|
NM_001042492.3(NF1):c.8160+9A>C
|
rs997202389
|
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.889-20G>A
|
rs765690267
|
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.1004A>G (p.Asn335Ser)
|
rs758212945
|
0.00001
|
NM_001042492.3(NF1):c.1019C>G (p.Ser340Cys)
|
rs771089333
|
0.00001
|
NM_001042492.3(NF1):c.1048G>A (p.Val350Met)
|
rs1185636269
|
0.00001
|
NM_001042492.3(NF1):c.1062+6A>G
|
rs1060500291
|
0.00001
|
NM_001042492.3(NF1):c.1062+7T>C
|
rs979521240
|
0.00001
|
NM_001042492.3(NF1):c.1063-16G>T
|
rs200652866
|
0.00001
|
NM_001042492.3(NF1):c.1082G>C (p.Ser361Thr)
|
rs876660103
|
0.00001
|
NM_001042492.3(NF1):c.1089A>G (p.Pro363=)
|
rs757508086
|
0.00001
|
NM_001042492.3(NF1):c.1100G>A (p.Gly367Asp)
|
rs1361040414
|
0.00001
|
NM_001042492.3(NF1):c.1130T>C (p.Ile377Thr)
|
rs878853863
|
0.00001
|
NM_001042492.3(NF1):c.1138C>T (p.Leu380Phe)
|
rs1426127948
|
0.00001
|
NM_001042492.3(NF1):c.1153C>T (p.Arg385Cys)
|
rs1322986962
|
0.00001
|
NM_001042492.3(NF1):c.1156A>G (p.Ile386Val)
|
rs779930387
|
0.00001
|
NM_001042492.3(NF1):c.1170C>T (p.Asn390=)
|
rs769004910
|
0.00001
|
NM_001042492.3(NF1):c.1173C>T (p.Asn391=)
|
rs367986994
|
0.00001
|
NM_001042492.3(NF1):c.1176A>G (p.Gln392=)
|
rs566220983
|
0.00001
|
NM_001042492.3(NF1):c.1185+7G>A
|
rs1322791959
|
0.00001
|
NM_001042492.3(NF1):c.1185+8C>G
|
rs1041153819
|
0.00001
|
NM_001042492.3(NF1):c.1186-12C>G
|
rs1473811436
|
0.00001
|
NM_001042492.3(NF1):c.1186-4A>G
|
rs769295150
|
0.00001
|
NM_001042492.3(NF1):c.1212T>A (p.Ser404=)
|
rs1757298995
|
0.00001
|
NM_001042492.3(NF1):c.1215A>G (p.Thr405=)
|
rs1405569320
|
0.00001
|
NM_001042492.3(NF1):c.1219C>T (p.His407Tyr)
|
rs1156614886
|
0.00001
|
NM_001042492.3(NF1):c.1241T>G (p.Leu414Arg)
|
rs1334926587
|
0.00001
|
NM_001042492.3(NF1):c.1243C>T (p.His415Tyr)
|
rs1415155749
|
0.00001
|
NM_001042492.3(NF1):c.1248A>T (p.Arg416=)
|
rs1403345664
|
0.00001
|
NM_001042492.3(NF1):c.1260+1G>A
|
rs267606603
|
0.00001
|
NM_001042492.3(NF1):c.1261-1G>A
|
rs2066618707
|
0.00001
|
NM_001042492.3(NF1):c.1263C>T (p.Ser421=)
|
rs767410768
|
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.1293T>A (p.Ala431=)
|
rs2066619379
|
0.00001
|
NM_001042492.3(NF1):c.1307C>A (p.Ser436Ter)
|
rs755190083
|
0.00001
|
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter)
|
rs778405030
|
0.00001
|
NM_001042492.3(NF1):c.1319G>A (p.Arg440Gln)
|
rs1466678870
|
0.00001
|
NM_001042492.3(NF1):c.132C>A (p.Ile44=)
|
rs765778199
|
0.00001
|
NM_001042492.3(NF1):c.1337C>T (p.Thr446Ile)
|
rs1389152072
|
0.00001
|
NM_001042492.3(NF1):c.1356A>G (p.Gln452=)
|
rs1324833228
|
0.00001
|
NM_001042492.3(NF1):c.1357G>A (p.Gly453Ser)
|
rs1273060925
|
0.00001
|
NM_001042492.3(NF1):c.1369C>T (p.His457Tyr)
|
rs757560526
|
0.00001
|
NM_001042492.3(NF1):c.1371C>T (p.His457=)
|
rs1318894606
|
0.00001
|
NM_001042492.3(NF1):c.1392+13dup
|
rs2066623179
|
0.00001
|
NM_001042492.3(NF1):c.1392+16A>G
|
rs760591025
|
0.00001
|
NM_001042492.3(NF1):c.1392+7T>C
|
rs773017698
|
0.00001
|
NM_001042492.3(NF1):c.1392G>A (p.Pro464=)
|
rs201604273
|
0.00001
|
NM_001042492.3(NF1):c.1393-16T>C
|
rs776335573
|
0.00001
|
NM_001042492.3(NF1):c.1410A>C (p.Glu470Asp)
|
rs786203090
|
0.00001
|
NM_001042492.3(NF1):c.1413A>G (p.Lys471=)
|
rs1309932338
|
0.00001
|
NM_001042492.3(NF1):c.1444A>G (p.Thr482Ala)
|
rs770201871
|
0.00001
|
NM_001042492.3(NF1):c.144A>G (p.Lys48=)
|
rs763375105
|
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.1506A>G (p.Ala502=)
|
rs1597698488
|
0.00001
|
NM_001042492.3(NF1):c.1527+7A>T
|
rs1555612295
|
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.1545G>A (p.Gly515=)
|
rs876658203
|
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.1573T>A (p.Leu525Ile)
|
rs2066875204
|
0.00001
|
NM_001042492.3(NF1):c.1587C>T (p.Leu529=)
|
rs786203041
|
0.00001
|
NM_001042492.3(NF1):c.1624G>T (p.Ala542Ser)
|
rs1242297747
|
0.00001
|
NM_001042492.3(NF1):c.1627C>T (p.Gln543Ter)
|
rs894292181
|
0.00001
|
NM_001042492.3(NF1):c.1641+3A>G
|
rs754159326
|
0.00001
|
NM_001042492.3(NF1):c.1642-12T>A
|
rs2066926774
|
0.00001
|
NM_001042492.3(NF1):c.1642-15T>G
|
rs375675505
|
0.00001
|
NM_001042492.3(NF1):c.1662G>T (p.Gln554His)
|
rs147594815
|
0.00001
|
NM_001042492.3(NF1):c.1680G>A (p.Leu560=)
|
rs773225166
|
0.00001
|
NM_001042492.3(NF1):c.1721+1G>A
|
rs1131691096
|
0.00001
|
NM_001042492.3(NF1):c.1721+3dup
|
rs1329765790
|
0.00001
|
NM_001042492.3(NF1):c.1722-5T>C
|
rs1458980212
|
0.00001
|
NM_001042492.3(NF1):c.1736T>G (p.Phe579Cys)
|
rs1398363349
|
0.00001
|
NM_001042492.3(NF1):c.1756A>C (p.Thr586Pro)
|
rs876659242
|
0.00001
|
NM_001042492.3(NF1):c.1769T>C (p.Met590Thr)
|
rs761559887
|
0.00001
|
NM_001042492.3(NF1):c.1801C>T (p.Arg601Trp)
|
rs587782592
|
0.00001
|
NM_001042492.3(NF1):c.1846-16A>G
|
rs373859084
|
0.00001
|
NM_001042492.3(NF1):c.1849G>A (p.Ala617Thr)
|
rs1131691135
|
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.1904C>T (p.Pro635Leu)
|
rs1597710514
|
0.00001
|
NM_001042492.3(NF1):c.1907C>G (p.Ser636Cys)
|
rs780412565
|
0.00001
|
NM_001042492.3(NF1):c.1921A>G (p.Ser641Gly)
|
rs769154907
|
0.00001
|
NM_001042492.3(NF1):c.1926A>G (p.Gln642=)
|
rs774806150
|
0.00001
|
NM_001042492.3(NF1):c.1936G>T (p.Asp646Tyr)
|
rs142079728
|
0.00001
|
NM_001042492.3(NF1):c.1944A>G (p.Glu648=)
|
rs1465016257
|
0.00001
|
NM_001042492.3(NF1):c.1956T>G (p.Arg652=)
|
rs1429522155
|
0.00001
|
NM_001042492.3(NF1):c.1972C>T (p.Leu658Phe)
|
rs763901597
|
0.00001
|
NM_001042492.3(NF1):c.1974C>A (p.Leu658=)
|
rs751318331
|
0.00001
|
NM_001042492.3(NF1):c.1974C>T (p.Leu658=)
|
rs751318331
|
0.00001
|
NM_001042492.3(NF1):c.1985A>G (p.Lys662Arg)
|
rs578141234
|
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.1995C>T (p.Ser665=)
|
rs1352726800
|
0.00001
|
NM_001042492.3(NF1):c.1999A>G (p.Met667Val)
|
rs749833271
|
0.00001
|
NM_001042492.3(NF1):c.2001+9C>G
|
rs755501652
|
0.00001
|
NM_001042492.3(NF1):c.2002-14C>T
|
rs928979051
|
0.00001
|
NM_001042492.3(NF1):c.2002-19T>G
|
rs774181772
|
0.00001
|
NM_001042492.3(NF1):c.2002-8A>T
|
rs1318674321
|
0.00001
|
NM_001042492.3(NF1):c.200A>G (p.Asn67Ser)
|
rs375038808
|
0.00001
|
NM_001042492.3(NF1):c.2010A>G (p.Ala670=)
|
rs786202440
|
0.00001
|
NM_001042492.3(NF1):c.2019C>T (p.Cys673=)
|
rs146624509
|
0.00001
|
NM_001042492.3(NF1):c.2031C>T (p.Pro677=)
|
rs753177596
|
0.00001
|
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)
|
rs768638173
|
0.00001
|
NM_001042492.3(NF1):c.2045A>C (p.Gln682Pro)
|
rs1304889984
|
0.00001
|
NM_001042492.3(NF1):c.205-13T>A
|
rs886052797
|
0.00001
|
NM_001042492.3(NF1):c.205-20C>T
|
rs1203386469
|
0.00001
|
NM_001042492.3(NF1):c.205-6T>A
|
rs1243948503
|
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.2065G>A (p.Val689Met)
|
rs771784652
|
0.00001
|
NM_001042492.3(NF1):c.2097C>T (p.Asp699=)
|
rs547905840
|
0.00001
|
NM_001042492.3(NF1):c.2118C>T (p.Ala706=)
|
rs1156646242
|
0.00001
|
NM_001042492.3(NF1):c.2132G>A (p.Arg711His)
|
rs1479669686
|
0.00001
|
NM_001042492.3(NF1):c.2156T>C (p.Ile719Thr)
|
rs754025938
|
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.2211A>G (p.Thr737=)
|
rs1178560430
|
0.00001
|
NM_001042492.3(NF1):c.2248A>G (p.Thr750Ala)
|
rs748064845
|
0.00001
|
NM_001042492.3(NF1):c.2251+12T>C
|
rs1177575840
|
0.00001
|
NM_001042492.3(NF1):c.2251+15T>G
|
rs2067021817
|
0.00001
|
NM_001042492.3(NF1):c.2251+17G>T
|
rs760501109
|
0.00001
|
NM_001042492.3(NF1):c.2251+5A>G
|
rs786201934
|
0.00001
|
NM_001042492.3(NF1):c.2251+9G>T
|
rs772014402
|
0.00001
|
NM_001042492.3(NF1):c.2252-12G>A
|
rs747671446
|
0.00001
|
NM_001042492.3(NF1):c.2252-16del
|
rs1199960719
|
0.00001
|
NM_001042492.3(NF1):c.2252-18G>T
|
rs754583248
|
0.00001
|
NM_001042492.3(NF1):c.2257G>A (p.Ala753Thr)
|
rs758325102
|
0.00001
|
NM_001042492.3(NF1):c.2293C>T (p.Arg765Cys)
|
rs1383770460
|
0.00001
|
NM_001042492.3(NF1):c.2296A>G (p.Ile766Val)
|
rs1303924124
|
0.00001
|
NM_001042492.3(NF1):c.2301G>A (p.Glu767=)
|
rs746127097
|
0.00001
|
NM_001042492.3(NF1):c.2326-10T>G
|
rs1555613971
|
0.00001
|
NM_001042492.3(NF1):c.2326-12C>T
|
rs1028639542
|
0.00001
|
NM_001042492.3(NF1):c.2326-9T>A
|
rs181838967
|
0.00001
|
NM_001042492.3(NF1):c.2342A>T (p.His781Leu)
|
rs199474763
|
0.00001
|
NM_001042492.3(NF1):c.2345C>G (p.Ala782Gly)
|
rs1203924788
|
0.00001
|
NM_001042492.3(NF1):c.234T>C (p.Asn78=)
|
rs876658354
|
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.235T>C (p.Leu79=)
|
rs764855221
|
0.00001
|
NM_001042492.3(NF1):c.2361A>G (p.Ala787=)
|
rs371589922
|
0.00001
|
NM_001042492.3(NF1):c.2364A>G (p.Thr788=)
|
rs1240233000
|
0.00001
|
NM_001042492.3(NF1):c.2378A>C (p.Asn793Thr)
|
rs772543826
|
0.00001
|
NM_001042492.3(NF1):c.2381A>C (p.Tyr794Ser)
|
rs773624220
|
0.00001
|
NM_001042492.3(NF1):c.2409+2T>C
|
rs876660826
|
0.00001
|
NM_001042492.3(NF1):c.2409+5G>A
|
rs763688567
|
0.00001
|
NM_001042492.3(NF1):c.2410-18C>T
|
rs533210843
|
0.00001
|
NM_001042492.3(NF1):c.2410-8G>A
|
rs1060500270
|
0.00001
|
NM_001042492.3(NF1):c.2434A>C (p.Ile812Leu)
|
rs587781899
|
0.00001
|
NM_001042492.3(NF1):c.2447G>A (p.Arg816Gln)
|
rs762709897
|
0.00001
|
NM_001042492.3(NF1):c.2451G>A (p.Met817Ile)
|
rs1300226301
|
0.00001
|
NM_001042492.3(NF1):c.2454C>G (p.Ser818=)
|
rs763634947
|
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.2496C>T (p.Asp832=)
|
rs1227092939
|
0.00001
|
NM_001042492.3(NF1):c.2502A>G (p.Leu834=)
|
rs953405312
|
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.2550G>T (p.Val850=)
|
rs772148227
|
0.00001
|
NM_001042492.3(NF1):c.2564G>C (p.Arg855Thr)
|
rs786203716
|
0.00001
|
NM_001042492.3(NF1):c.256A>G (p.Ile86Val)
|
rs757057811
|
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.2577C>T (p.Gly859=)
|
rs746208651
|
0.00001
|
NM_001042492.3(NF1):c.2581G>C (p.Ala861Pro)
|
rs768425956
|
0.00001
|
NM_001042492.3(NF1):c.2597C>T (p.Pro866Leu)
|
rs767159555
|
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.2622G>A (p.Lys874=)
|
rs77917884
|
0.00001
|
NM_001042492.3(NF1):c.2624G>T (p.Gly875Val)
|
rs1060500361
|
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.2643G>A (p.Met881Ile)
|
rs376666221
|
0.00001
|
NM_001042492.3(NF1):c.2649A>C (p.Ser883=)
|
rs2067070240
|
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.2689C>T (p.Arg897Trp)
|
rs775949348
|
0.00001
|
NM_001042492.3(NF1):c.2690G>A (p.Arg897Gln)
|
rs863224658
|
0.00001
|
NM_001042492.3(NF1):c.2712T>C (p.Cys904=)
|
rs372963561
|
0.00001
|
NM_001042492.3(NF1):c.2736A>G (p.Gln912=)
|
rs760097413
|
0.00001
|
NM_001042492.3(NF1):c.2740C>T (p.Arg914Trp)
|
rs765848298
|
0.00001
|
NM_001042492.3(NF1):c.2741G>A (p.Arg914Gln)
|
rs776447057
|
0.00001
|
NM_001042492.3(NF1):c.2749G>A (p.Val917Ile)
|
rs752455591
|
0.00001
|
NM_001042492.3(NF1):c.2765G>A (p.Gly922Asp)
|
rs1378141985
|
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.2803A>C (p.Asn935His)
|
rs786201823
|
0.00001
|
NM_001042492.3(NF1):c.2809T>G (p.Leu937Val)
|
rs1567849181
|
0.00001
|
NM_001042492.3(NF1):c.2825G>A (p.Ser942Asn)
|
rs1555614350
|
0.00001
|
NM_001042492.3(NF1):c.2850+10T>G
|
rs771916458
|
0.00001
|
NM_001042492.3(NF1):c.2850+11C>A
|
rs1426490458
|
0.00001
|
NM_001042492.3(NF1):c.2850+5A>T
|
rs864622633
|
0.00001
|
NM_001042492.3(NF1):c.2850G>C (p.Gln950His)
|
rs863224446
|
0.00001
|
NM_001042492.3(NF1):c.2851-11T>C
|
rs1332945782
|
0.00001
|
NM_001042492.3(NF1):c.2866A>G (p.Thr956Ala)
|
rs2067082802
|
0.00001
|
NM_001042492.3(NF1):c.288+12G>A
|
rs1321140955
|
0.00001
|
NM_001042492.3(NF1):c.2880T>C (p.Phe960=)
|
rs1377177645
|
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.289-20T>C
|
rs763991276
|
0.00001
|
NM_001042492.3(NF1):c.289-3T>C
|
rs1461646186
|
0.00001
|
NM_001042492.3(NF1):c.289-4T>G
|
rs1258767746
|
0.00001
|
NM_001042492.3(NF1):c.289-7A>G
|
rs751506868
|
0.00001
|
NM_001042492.3(NF1):c.2902A>G (p.Met968Val)
|
rs587781499
|
0.00001
|
NM_001042492.3(NF1):c.2927C>T (p.Thr976Ile)
|
rs755404523
|
0.00001
|
NM_001042492.3(NF1):c.294A>G (p.Pro98=)
|
rs1445884708
|
0.00001
|
NM_001042492.3(NF1):c.2963T>C (p.Ile988Thr)
|
rs746670929
|
0.00001
|
NM_001042492.3(NF1):c.2968A>C (p.Thr990Pro)
|
rs876658299
|
0.00001
|
NM_001042492.3(NF1):c.2971A>G (p.Met991Val)
|
rs1268543864
|
0.00001
|
NM_001042492.3(NF1):c.297G>A (p.Lys99=)
|
rs876658428
|
0.00001
|
NM_001042492.3(NF1):c.2991-12A>G
|
rs760838737
|
0.00001
|
NM_001042492.3(NF1):c.2991-6A>G
|
rs1191095886
|
0.00001
|
NM_001042492.3(NF1):c.2991-8C>G
|
rs2067089793
|
0.00001
|
NM_001042492.3(NF1):c.2991G>A (p.Arg997=)
|
rs755501749
|
0.00001
|
NM_001042492.3(NF1):c.2995G>A (p.Val999Ile)
|
rs2067090218
|
0.00001
|
NM_001042492.3(NF1):c.2998C>T (p.Arg1000Cys)
|
rs367684252
|
0.00001
|
NM_001042492.3(NF1):c.3000T>C (p.Arg1000=)
|
rs764332485
|
0.00001
|
NM_001042492.3(NF1):c.3009G>T (p.Gly1003=)
|
rs780895334
|
0.00001
|
NM_001042492.3(NF1):c.3011A>G (p.Asn1004Ser)
|
rs1475800240
|
0.00001
|
NM_001042492.3(NF1):c.3013A>G (p.Met1005Val)
|
rs1555614502
|
0.00001
|
NM_001042492.3(NF1):c.3024A>G (p.Ala1008=)
|
rs779490777
|
0.00001
|
NM_001042492.3(NF1):c.3030A>C (p.Gln1010His)
|
rs1405071456
|
0.00001
|
NM_001042492.3(NF1):c.3038C>T (p.Thr1013Met)
|
rs786203132
|
0.00001
|
NM_001042492.3(NF1):c.3039G>A (p.Thr1013=)
|
rs876660168
|
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.3062T>G (p.Val1021Gly)
|
rs1355411201
|
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.3113+9T>C
|
rs1181782378
|
0.00001
|
NM_001042492.3(NF1):c.3114-15T>C
|
rs748777693
|
0.00001
|
NM_001042492.3(NF1):c.3124G>A (p.Val1042Ile)
|
rs1446427729
|
0.00001
|
NM_001042492.3(NF1):c.3166G>A (p.Ala1056Thr)
|
rs776907522
|
0.00001
|
NM_001042492.3(NF1):c.3197+17C>T
|
rs751894967
|
0.00001
|
NM_001042492.3(NF1):c.3197+3A>G
|
rs1359512152
|
0.00001
|
NM_001042492.3(NF1):c.3198-4_3198-3dup
|
rs1555614809
|
0.00001
|
NM_001042492.3(NF1):c.3198-5T>C
|
rs587782639
|
0.00001
|
NM_001042492.3(NF1):c.3198-5_3198-3dup
|
rs1227046003
|
0.00001
|
NM_001042492.3(NF1):c.3198-9T>A
|
rs1316749264
|
0.00001
|
NM_001042492.3(NF1):c.3242C>G (p.Ala1081Gly)
|
rs769941435
|
0.00001
|
NM_001042492.3(NF1):c.3246T>C (p.Gly1082=)
|
rs876660670
|
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.3315-5C>T
|
rs1266211447
|
0.00001
|
NM_001042492.3(NF1):c.3330T>A (p.Phe1110Leu)
|
rs1256152851
|
0.00001
|
NM_001042492.3(NF1):c.3352A>G (p.Ser1118Gly)
|
rs201645318
|
0.00001
|
NM_001042492.3(NF1):c.3359T>C (p.Val1120Ala)
|
rs751571517
|
0.00001
|
NM_001042492.3(NF1):c.3362A>G (p.Glu1121Gly)
|
rs757222815
|
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.3454T>C (p.Leu1152=)
|
rs771258163
|
0.00001
|
NM_001042492.3(NF1):c.3461A>G (p.Asn1154Ser)
|
rs371544233
|
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.348A>T (p.Glu116Asp)
|
rs1231174547
|
0.00001
|
NM_001042492.3(NF1):c.3490T>G (p.Ser1164Ala)
|
rs750303863
|
0.00001
|
NM_001042492.3(NF1):c.3496+17G>A
|
rs1249632527
|
0.00001
|
NM_001042492.3(NF1):c.3496+8C>T
|
rs754087844
|
0.00001
|
NM_001042492.3(NF1):c.3497-6C>T
|
rs2067140852
|
0.00001
|
NM_001042492.3(NF1):c.3527G>T (p.Arg1176Ile)
|
rs1227027709
|
0.00001
|
NM_001042492.3(NF1):c.3544G>A (p.Val1182Ile)
|
rs1555615027
|
0.00001
|
NM_001042492.3(NF1):c.354C>T (p.Cys118=)
|
rs768777585
|
0.00001
|
NM_001042492.3(NF1):c.3564A>G (p.Gln1188=)
|
rs777859444
|
0.00001
|
NM_001042492.3(NF1):c.3586C>T (p.Leu1196Phe)
|
rs1555615039
|
0.00001
|
NM_001042492.3(NF1):c.3590C>G (p.Ala1197Gly)
|
rs370820478
|
0.00001
|
NM_001042492.3(NF1):c.3601T>C (p.Leu1201=)
|
rs1422595428
|
0.00001
|
NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp)
|
rs199474732
|
0.00001
|
NM_001042492.3(NF1):c.3619A>C (p.Arg1207=)
|
rs202208560
|
0.00001
|
NM_001042492.3(NF1):c.3631C>T (p.Leu1211=)
|
rs876658125
|
0.00001
|
NM_001042492.3(NF1):c.366C>T (p.His122=)
|
rs138952888
|
0.00001
|
NM_001042492.3(NF1):c.3694C>T (p.Pro1232Ser)
|
rs1482085668
|
0.00001
|
NM_001042492.3(NF1):c.3708+10T>C
|
rs757762958
|
0.00001
|
NM_001042492.3(NF1):c.3708+20G>A
|
rs756565212
|
0.00001
|
NM_001042492.3(NF1):c.3709-16T>C
|
rs527320617
|
0.00001
|
NM_001042492.3(NF1):c.3709-2A>G
|
rs1597722374
|
0.00001
|
NM_001042492.3(NF1):c.3709-7T>C
|
rs1196733035
|
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.3730G>A (p.Val1244Ile)
|
rs2067186026
|
0.00001
|
NM_001042492.3(NF1):c.3732T>A (p.Val1244=)
|
rs756653022
|
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.3778A>G (p.Met1260Val)
|
rs1264981144
|
0.00001
|
NM_001042492.3(NF1):c.3811A>G (p.Met1271Val)
|
rs746583007
|
0.00001
|
NM_001042492.3(NF1):c.3822C>T (p.Leu1274=)
|
rs1489818104
|
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.3845G>A (p.Ser1282Asn)
|
rs1328592308
|
0.00001
|
NM_001042492.3(NF1):c.386A>G (p.Gln129Arg)
|
rs1060500250
|
0.00001
|
NM_001042492.3(NF1):c.3871-11C>T
|
rs184910144
|
0.00001
|
NM_001042492.3(NF1):c.3871-17T>C
|
rs772406340
|
0.00001
|
NM_001042492.3(NF1):c.3871-18A>G
|
rs748424913
|
0.00001
|
NM_001042492.3(NF1):c.3871-20C>A
|
rs778536665
|
0.00001
|
NM_001042492.3(NF1):c.3871-4G>C
|
rs558421445
|
0.00001
|
NM_001042492.3(NF1):c.3891A>G (p.Leu1297=)
|
rs753036396
|
0.00001
|
NM_001042492.3(NF1):c.3900C>T (p.Leu1300=)
|
rs1597722945
|
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.3940T>C (p.Trp1314Arg)
|
rs576687606
|
0.00001
|
NM_001042492.3(NF1):c.3945A>G (p.Gln1315=)
|
rs1365148212
|
0.00001
|
NM_001042492.3(NF1):c.3948T>A (p.His1316Gln)
|
rs1418340346
|
0.00001
|
NM_001042492.3(NF1):c.3962T>C (p.Val1321Ala)
|
rs1060500337
|
0.00001
|
NM_001042492.3(NF1):c.3974+19T>C
|
rs372690119
|
0.00001
|
NM_001042492.3(NF1):c.3974+9T>A
|
rs368586596
|
0.00001
|
NM_001042492.3(NF1):c.3975-4G>A
|
rs760207624
|
0.00001
|
NM_001042492.3(NF1):c.3976T>A (p.Leu1326Ile)
|
rs765957571
|
0.00001
|
NM_001042492.3(NF1):c.3987A>G (p.Ser1329=)
|
rs753270018
|
0.00001
|
NM_001042492.3(NF1):c.3988G>C (p.Glu1330Gln)
|
rs1483311407
|
0.00001
|
NM_001042492.3(NF1):c.3989A>C (p.Glu1330Ala)
|
rs1256727206
|
0.00001
|
NM_001042492.3(NF1):c.4017C>T (p.Leu1339=)
|
rs778993658
|
0.00001
|
NM_001042492.3(NF1):c.4024A>G (p.Met1342Val)
|
rs1597735093
|
0.00001
|
NM_001042492.3(NF1):c.4032A>G (p.Glu1344=)
|
rs1555617330
|
0.00001
|
NM_001042492.3(NF1):c.403C>T (p.Arg135Trp)
|
rs775191883
|
0.00001
|
NM_001042492.3(NF1):c.4044T>C (p.His1348=)
|
rs1315375188
|
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.4065A>G (p.Ser1355=)
|
rs777669937
|
0.00001
|
NM_001042492.3(NF1):c.4071C>T (p.Phe1357=)
|
rs747272290
|
0.00001
|
NM_001042492.3(NF1):c.4097A>T (p.His1366Leu)
|
rs769042915
|
0.00001
|
NM_001042492.3(NF1):c.4098C>G (p.His1366Gln)
|
rs1555617377
|
0.00001
|
NM_001042492.3(NF1):c.410C>G (p.Ser137Cys)
|
rs1597635932
|
0.00001
|
NM_001042492.3(NF1):c.4110+14T>C
|
rs1019229165
|
0.00001
|
NM_001042492.3(NF1):c.4110+15dup
|
rs763846160
|
0.00001
|
NM_001042492.3(NF1):c.4110+19_4110+20del
|
rs1386021083
|
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.414C>G (p.Ala138=)
|
rs1597635949
|
0.00001
|
NM_001042492.3(NF1):c.417T>C (p.Ser139=)
|
rs762434870
|
0.00001
|
NM_001042492.3(NF1):c.4187G>A (p.Arg1396His)
|
rs368685980
|
0.00001
|
NM_001042492.3(NF1):c.4190T>A (p.Phe1397Tyr)
|
rs768223279
|
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.4212A>G (p.Ala1404=)
|
rs376825167
|
0.00001
|
NM_001042492.3(NF1):c.4213G>A (p.Val1405Ile)
|
rs1256219174
|
0.00001
|
NM_001042492.3(NF1):c.4220G>A (p.Ser1407Asn)
|
rs2067621332
|
0.00001
|
NM_001042492.3(NF1):c.4225A>G (p.Met1409Val)
|
rs1060500369
|
0.00001
|
NM_001042492.3(NF1):c.4230C>T (p.Phe1410=)
|
rs750213850
|
0.00001
|
NM_001042492.3(NF1):c.4244A>G (p.Asn1415Ser)
|
rs1406169018
|
0.00001
|
NM_001042492.3(NF1):c.4252A>G (p.Ile1418Val)
|
rs369345045
|
0.00001
|
NM_001042492.3(NF1):c.4262C>A (p.Pro1421Gln)
|
rs753997885
|
0.00001
|
NM_001042492.3(NF1):c.4272A>T (p.Ala1424=)
|
rs753182376
|
0.00001
|
NM_001042492.3(NF1):c.4290G>A (p.Lys1430=)
|
rs373086572
|
0.00001
|
NM_001042492.3(NF1):c.4296A>G (p.Pro1432=)
|
rs864622492
|
0.00001
|
NM_001042492.3(NF1):c.4306G>A (p.Glu1436Lys)
|
rs876660428
|
0.00001
|
NM_001042492.3(NF1):c.4332+18T>C
|
rs1482009295
|
0.00001
|
NM_001042492.3(NF1):c.4333-10T>C
|
rs1254791952
|
0.00001
|
NM_001042492.3(NF1):c.4333-14G>C
|
rs2067634788
|
0.00001
|
NM_001042492.3(NF1):c.4333-18C>A
|
rs1467425728
|
0.00001
|
NM_001042492.3(NF1):c.4333-4G>A
|
rs372709098
|
0.00001
|
NM_001042492.3(NF1):c.4346T>C (p.Ile1449Thr)
|
rs1410459904
|
0.00001
|
NM_001042492.3(NF1):c.4352A>G (p.Asn1451Ser)
|
rs199474754
|
0.00001
|
NM_001042492.3(NF1):c.4368A>T (p.Thr1456=)
|
rs876659577
|
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.4417G>A (p.Asp1473Asn)
|
rs587781790
|
0.00001
|
NM_001042492.3(NF1):c.4421C>T (p.Ala1474Val)
|
rs587781553
|
0.00001
|
NM_001042492.3(NF1):c.4431-13T>G
|
rs778635411
|
0.00001
|
NM_001042492.3(NF1):c.4431-17A>T
|
rs754657048
|
0.00001
|
NM_001042492.3(NF1):c.4446A>G (p.Ile1482Met)
|
rs876658776
|
0.00001
|
NM_001042492.3(NF1):c.4460C>T (p.Pro1487Leu)
|
rs2067663223
|
0.00001
|
NM_001042492.3(NF1):c.4489T>C (p.Ser1497Pro)
|
rs763266925
|
0.00001
|
NM_001042492.3(NF1):c.4495A>G (p.Ile1499Val)
|
rs764654925
|
0.00001
|
NM_001042492.3(NF1):c.4503C>T (p.Asp1501=)
|
rs577394398
|
0.00001
|
NM_001042492.3(NF1):c.4504G>A (p.Gly1502Ser)
|
rs876659607
|
0.00001
|
NM_001042492.3(NF1):c.4508A>G (p.Asn1503Ser)
|
rs587781445
|
0.00001
|
NM_001042492.3(NF1):c.451A>C (p.Asn151His)
|
rs769391944
|
0.00001
|
NM_001042492.3(NF1):c.4523A>T (p.His1508Leu)
|
rs1254695587
|
0.00001
|
NM_001042492.3(NF1):c.452A>G (p.Asn151Ser)
|
rs1567817981
|
0.00001
|
NM_001042492.3(NF1):c.4577+3A>G
|
rs1060500246
|
0.00001
|
NM_001042492.3(NF1):c.4578-5T>C
|
rs772759508
|
0.00001
|
NM_001042492.3(NF1):c.4578G>A (p.Arg1526=)
|
rs1356757316
|
0.00001
|
NM_001042492.3(NF1):c.4593T>C (p.Val1531=)
|
rs773315342
|
0.00001
|
NM_001042492.3(NF1):c.4594G>A (p.Gly1532Arg)
|
rs2067689658
|
0.00001
|
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)
|
rs760703505
|
0.00001
|
NM_001042492.3(NF1):c.4601G>A (p.Arg1534Gln)
|
rs867955218
|
0.00001
|
NM_001042492.3(NF1):c.462T>C (p.Phe154=)
|
rs750268216
|
0.00001
|
NM_001042492.3(NF1):c.4635C>T (p.Tyr1545=)
|
rs754023358
|
0.00001
|
NM_001042492.3(NF1):c.4655A>G (p.Lys1552Arg)
|
rs1172780277
|
0.00001
|
NM_001042492.3(NF1):c.4671A>G (p.Thr1557=)
|
rs876658990
|
0.00001
|
NM_001042492.3(NF1):c.467G>A (p.Arg156His)
|
rs754096545
|
0.00001
|
NM_001042492.3(NF1):c.4682G>A (p.Ser1561Asn)
|
rs751414513
|
0.00001
|
NM_001042492.3(NF1):c.468C>T (p.Arg156=)
|
rs779074793
|
0.00001
|
NM_001042492.3(NF1):c.4690C>T (p.Leu1564Phe)
|
rs1427435078
|
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.4737T>C (p.His1579=)
|
rs1233883371
|
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+14T>A
|
rs747431601
|
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.4830A>G (p.Ala1610=)
|
rs552732964
|
0.00001
|
NM_001042492.3(NF1):c.4835+10A>G
|
rs1248224239
|
0.00001
|
NM_001042492.3(NF1):c.4835+11C>T
|
rs2067767894
|
0.00001
|
NM_001042492.3(NF1):c.4835+17T>G
|
rs1257470053
|
0.00001
|
NM_001042492.3(NF1):c.4835+3A>G
|
rs1417732851
|
0.00001
|
NM_001042492.3(NF1):c.4836G>A (p.Arg1612=)
|
rs1555533268
|
0.00001
|
NM_001042492.3(NF1):c.4859G>A (p.Gly1620Asp)
|
rs587782213
|
0.00001
|
NM_001042492.3(NF1):c.4860T>C (p.Gly1620=)
|
rs864622747
|
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.4891T>C (p.Leu1631=)
|
rs1455791933
|
0.00001
|
NM_001042492.3(NF1):c.4896G>A (p.Lys1632=)
|
rs1266231117
|
0.00001
|
NM_001042492.3(NF1):c.4899A>G (p.Pro1633=)
|
rs876658422
|
0.00001
|
NM_001042492.3(NF1):c.4901A>G (p.Tyr1634Cys)
|
rs1597829621
|
0.00001
|
NM_001042492.3(NF1):c.4914A>G (p.Pro1638=)
|
rs186482097
|
0.00001
|
NM_001042492.3(NF1):c.4920A>C (p.Glu1640Asp)
|
rs1443684477
|
0.00001
|
NM_001042492.3(NF1):c.4939C>T (p.His1647Tyr)
|
rs2069328243
|
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.4957C>T (p.Arg1653Cys)
|
rs876659922
|
0.00001
|
NM_001042492.3(NF1):c.5004C>G (p.Gly1668=)
|
rs751603479
|
0.00001
|
NM_001042492.3(NF1):c.5007T>C (p.Phe1669=)
|
rs761807609
|
0.00001
|
NM_001042492.3(NF1):c.5019C>T (p.Asn1673=)
|
rs767699634
|
0.00001
|
NM_001042492.3(NF1):c.5025C>T (p.Ser1675=)
|
rs17878418
|
0.00001
|
NM_001042492.3(NF1):c.5026G>A (p.Ala1676Thr)
|
rs756450772
|
0.00001
|
NM_001042492.3(NF1):c.5028A>G (p.Ala1676=)
|
rs778817599
|
0.00001
|
NM_001042492.3(NF1):c.5067C>T (p.Tyr1689=)
|
rs756708811
|
0.00001
|
NM_001042492.3(NF1):c.5079T>G (p.His1693Gln)
|
rs1555533365
|
0.00001
|
NM_001042492.3(NF1):c.5087T>C (p.Leu1696Pro)
|
rs745489489
|
0.00001
|
NM_001042492.3(NF1):c.5098C>T (p.Leu1700Phe)
|
rs775786295
|
0.00001
|
NM_001042492.3(NF1):c.5115G>C (p.Arg1705Ser)
|
rs749669269
|
0.00001
|
NM_001042492.3(NF1):c.5116C>T (p.Leu1706Phe)
|
rs769087878
|
0.00001
|
NM_001042492.3(NF1):c.5125A>G (p.Ile1709Val)
|
rs774720054
|
0.00001
|
NM_001042492.3(NF1):c.5126T>C (p.Ile1709Thr)
|
rs876660316
|
0.00001
|
NM_001042492.3(NF1):c.5145G>A (p.Leu1715=)
|
rs762436173
|
0.00001
|
NM_001042492.3(NF1):c.5146G>C (p.Ala1716Pro)
|
rs767469374
|
0.00001
|
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp)
|
rs773378630
|
0.00001
|
NM_001042492.3(NF1):c.5161C>T (p.His1721Tyr)
|
rs760936909
|
0.00001
|
NM_001042492.3(NF1):c.5167C>G (p.Gln1723Glu)
|
rs766727694
|
0.00001
|
NM_001042492.3(NF1):c.5183C>T (p.Ala1728Val)
|
rs1555533395
|
0.00001
|
NM_001042492.3(NF1):c.5209C>T (p.Leu1737=)
|
rs1341372934
|
0.00001
|
NM_001042492.3(NF1):c.5229T>C (p.Ala1743=)
|
rs876657546
|
0.00001
|
NM_001042492.3(NF1):c.525T>C (p.His175=)
|
rs750358089
|
0.00001
|
NM_001042492.3(NF1):c.5268+7T>C
|
rs772663607
|
0.00001
|
NM_001042492.3(NF1):c.5268+9C>T
|
rs956188716
|
0.00001
|
NM_001042492.3(NF1):c.5269-14C>T
|
rs753463683
|
0.00001
|
NM_001042492.3(NF1):c.5269-19C>T
|
rs755620051
|
0.00001
|
NM_001042492.3(NF1):c.5270T>C (p.Val1757Ala)
|
rs1021835871
|
0.00001
|
NM_001042492.3(NF1):c.5271T>C (p.Val1757=)
|
rs1399095966
|
0.00001
|
NM_001042492.3(NF1):c.5280T>C (p.Thr1760=)
|
rs779104728
|
0.00001
|
NM_001042492.3(NF1):c.5286C>T (p.Val1762=)
|
rs748566277
|
0.00001
|
NM_001042492.3(NF1):c.5290G>A (p.Val1764Ile)
|
rs778427434
|
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.5357C>T (p.Ser1786Leu)
|
rs1555533569
|
0.00001
|
NM_001042492.3(NF1):c.5358G>A (p.Ser1786=)
|
rs373313111
|
0.00001
|
NM_001042492.3(NF1):c.5391C>T (p.Asn1797=)
|
rs1449178444
|
0.00001
|
NM_001042492.3(NF1):c.5407A>G (p.Ile1803Val)
|
rs559910904
|
0.00001
|
NM_001042492.3(NF1):c.541C>G (p.Gln181Glu)
|
rs753529924
|
0.00001
|
NM_001042492.3(NF1):c.5436C>T (p.Phe1812=)
|
rs864622640
|
0.00001
|
NM_001042492.3(NF1):c.5455G>A (p.Ala1819Thr)
|
rs368998534
|
0.00001
|
NM_001042492.3(NF1):c.5458A>C (p.Ile1820Leu)
|
rs786202459
|
0.00001
|
NM_001042492.3(NF1):c.5468C>G (p.Ser1823Cys)
|
rs1597832156
|
0.00001
|
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)
|
rs797045139
|
0.00001
|
NM_001042492.3(NF1):c.5490C>T (p.Arg1830=)
|
rs1245095693
|
0.00001
|
NM_001042492.3(NF1):c.5502A>G (p.Ser1834=)
|
rs747487014
|
0.00001
|
NM_001042492.3(NF1):c.5508C>T (p.Pro1836=)
|
rs786202557
|
0.00001
|
NM_001042492.3(NF1):c.5509G>A (p.Asp1837Asn)
|
rs771597781
|
0.00001
|
NM_001042492.3(NF1):c.550A>C (p.Asn184His)
|
rs1555607101
|
0.00001
|
NM_001042492.3(NF1):c.551A>G (p.Asn184Ser)
|
rs876659849
|
0.00001
|
NM_001042492.3(NF1):c.5520C>A (p.Pro1840=)
|
rs786201638
|
0.00001
|
NM_001042492.3(NF1):c.5536C>T (p.Arg1846Trp)
|
rs769843989
|
0.00001
|
NM_001042492.3(NF1):c.5547T>C (p.Asp1849=)
|
rs1555533634
|
0.00001
|
NM_001042492.3(NF1):c.5571C>T (p.Ile1857=)
|
rs771837192
|
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.5610-4C>G
|
rs1419030713
|
0.00001
|
NM_001042492.3(NF1):c.5610-7C>T
|
rs553657123
|
0.00001
|
NM_001042492.3(NF1):c.5665G>A (p.Glu1889Lys)
|
rs764782945
|
0.00001
|
NM_001042492.3(NF1):c.5715C>T (p.Thr1905=)
|
rs1060503892
|
0.00001
|
NM_001042492.3(NF1):c.5731A>G (p.Ile1911Val)
|
rs146523293
|
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.5753A>G (p.Asn1918Ser)
|
rs534249104
|
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.5772A>G (p.Leu1924=)
|
rs1337615274
|
0.00001
|
NM_001042492.3(NF1):c.5812+332A>G
|
rs863224491
|
0.00001
|
NM_001042492.3(NF1):c.5812+9T>C
|
rs1324552702
|
0.00001
|
NM_001042492.3(NF1):c.5813-9T>G
|
rs778521387
|
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.587-3C>T
|
rs375188075
|
0.00001
|
NM_001042492.3(NF1):c.5873G>T (p.Arg1958Leu)
|
rs1296862549
|
0.00001
|
NM_001042492.3(NF1):c.5941A>G (p.Met1981Val)
|
rs762935987
|
0.00001
|
NM_001042492.3(NF1):c.5947A>G (p.Ile1983Val)
|
rs876658484
|
0.00001
|
NM_001042492.3(NF1):c.594A>T (p.Ala198=)
|
rs138411879
|
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.6006+17A>G
|
rs748186225
|
0.00001
|
NM_001042492.3(NF1):c.6006+18A>G
|
rs757836518
|
0.00001
|
NM_001042492.3(NF1):c.6006+4T>C
|
rs754909198
|
0.00001
|
NM_001042492.3(NF1):c.6006G>A (p.Gln2002=)
|
rs1555534432
|
0.00001
|
NM_001042492.3(NF1):c.6007-6A>G
|
rs775960363
|
0.00001
|
NM_001042492.3(NF1):c.6012A>G (p.Thr2004=)
|
rs1232336416
|
0.00001
|
NM_001042492.3(NF1):c.607G>T (p.Ala203Ser)
|
rs904361724
|
0.00001
|
NM_001042492.3(NF1):c.6111T>C (p.Ala2037=)
|
rs876658898
|
0.00001
|
NM_001042492.3(NF1):c.6117T>C (p.Ala2039=)
|
rs2069671176
|
0.00001
|
NM_001042492.3(NF1):c.6148G>T (p.Val2050Phe)
|
rs1300330804
|
0.00001
|
NM_001042492.3(NF1):c.6189A>G (p.Leu2063=)
|
rs1060503911
|
0.00001
|
NM_001042492.3(NF1):c.6192T>C (p.Ser2064=)
|
rs765094377
|
0.00001
|
NM_001042492.3(NF1):c.619G>A (p.Val207Ile)
|
rs752959118
|
0.00001
|
NM_001042492.3(NF1):c.6262C>G (p.Leu2088Val)
|
rs752569823
|
0.00001
|
NM_001042492.3(NF1):c.6297T>C (p.His2099=)
|
rs751517473
|
0.00001
|
NM_001042492.3(NF1):c.6316G>A (p.Val2106Ile)
|
rs755791578
|
0.00001
|
NM_001042492.3(NF1):c.631G>A (p.Ala211Thr)
|
rs781519491
|
0.00001
|
NM_001042492.3(NF1):c.6322A>T (p.Thr2108Ser)
|
rs1024333224
|
0.00001
|
NM_001042492.3(NF1):c.6328T>C (p.Leu2110=)
|
rs780230966
|
0.00001
|
NM_001042492.3(NF1):c.6334G>A (p.Ala2112Thr)
|
rs749672954
|
0.00001
|
NM_001042492.3(NF1):c.6345G>A (p.Pro2115=)
|
rs779475182
|
0.00001
|
NM_001042492.3(NF1):c.6377T>C (p.Val2126Ala)
|
rs1597843145
|
0.00001
|
NM_001042492.3(NF1):c.6420T>C (p.His2140=)
|
rs762803346
|
0.00001
|
NM_001042492.3(NF1):c.6438G>A (p.Lys2146=)
|
rs1172220920
|
0.00001
|
NM_001042492.3(NF1):c.6442G>A (p.Val2148Ile)
|
rs770993581
|
0.00001
|
NM_001042492.3(NF1):c.6449G>C (p.Arg2150Thr)
|
rs2069704009
|
0.00001
|
NM_001042492.3(NF1):c.645C>T (p.Ser215=)
|
rs746163138
|
0.00001
|
NM_001042492.3(NF1):c.6468C>G (p.Phe2156Leu)
|
rs768464936
|
0.00001
|
NM_001042492.3(NF1):c.6470C>T (p.Ser2157Leu)
|
rs774161532
|
0.00001
|
NM_001042492.3(NF1):c.6480A>G (p.Lys2160=)
|
rs1060503918
|
0.00001
|
NM_001042492.3(NF1):c.6488T>G (p.Leu2163Trp)
|
rs1353492847
|
0.00001
|
NM_001042492.3(NF1):c.6546C>T (p.Tyr2182=)
|
rs876659768
|
0.00001
|
NM_001042492.3(NF1):c.6549G>A (p.Arg2183=)
|
rs1028183407
|
0.00001
|
NM_001042492.3(NF1):c.655-3T>C
|
rs746584147
|
0.00001
|
NM_001042492.3(NF1):c.6552C>T (p.Asp2184=)
|
rs376808264
|
0.00001
|
NM_001042492.3(NF1):c.6558A>C (p.Ser2186=)
|
rs753509749
|
0.00001
|
NM_001042492.3(NF1):c.6561C>T (p.Phe2187=)
|
rs2069706640
|
0.00001
|
NM_001042492.3(NF1):c.6585G>A (p.Glu2195=)
|
rs202151774
|
0.00001
|
NM_001042492.3(NF1):c.6642+42T>C
|
rs760581466
|
0.00001
|
NM_001042492.3(NF1):c.6643-8T>A
|
rs752079977
|
0.00001
|
NM_001042492.3(NF1):c.6646T>A (p.Cys2216Ser)
|
rs757736155
|
0.00001
|
NM_001042492.3(NF1):c.6665C>T (p.Thr2222Met)
|
rs369803831
|
0.00001
|
NM_001042492.3(NF1):c.6666G>A (p.Thr2222=)
|
rs780247942
|
0.00001
|
NM_001042492.3(NF1):c.6667T>C (p.Cys2223Arg)
|
rs1192120725
|
0.00001
|
NM_001042492.3(NF1):c.6671A>G (p.Lys2224Arg)
|
rs749567006
|
0.00001
|
NM_001042492.3(NF1):c.6672G>A (p.Lys2224=)
|
rs771835288
|
0.00001
|
NM_001042492.3(NF1):c.6674G>A (p.Trp2225Ter)
|
rs1193716348
|
0.00001
|
NM_001042492.3(NF1):c.6704+19A>G
|
rs761477107
|
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.6705-2A>G
|
rs2069724442
|
0.00001
|
NM_001042492.3(NF1):c.6729C>G (p.Ser2243=)
|
rs1337738132
|
0.00001
|
NM_001042492.3(NF1):c.6748G>A (p.Val2250Ile)
|
rs1208488322
|
0.00001
|
NM_001042492.3(NF1):c.6761G>A (p.Cys2254Tyr)
|
rs1361250850
|
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.6783T>C (p.His2261=)
|
rs1311531049
|
0.00001
|
NM_001042492.3(NF1):c.6785G>A (p.Gly2262Glu)
|
rs997781719
|
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.6819+6T>C
|
rs1407700643
|
0.00001
|
NM_001042492.3(NF1):c.6819+7G>C
|
rs200532525
|
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.6837A>C (p.Leu2279Phe)
|
rs144287929
|
0.00001
|
NM_001042492.3(NF1):c.6839A>G (p.Lys2280Arg)
|
rs773858629
|
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.6891A>G (p.Ala2297=)
|
rs776626153
|
0.00001
|
NM_001042492.3(NF1):c.6921+19A>G
|
rs1204201396
|
0.00001
|
NM_001042492.3(NF1):c.6921+5T>C
|
rs370402788
|
0.00001
|
NM_001042492.3(NF1):c.6921+6T>C
|
rs368541645
|
0.00001
|
NM_001042492.3(NF1):c.6922-13T>C
|
rs199901687
|
0.00001
|
NM_001042492.3(NF1):c.6922-6T>G
|
rs892776409
|
0.00001
|
NM_001042492.3(NF1):c.6922-8T>C
|
rs191255643
|
0.00001
|
NM_001042492.3(NF1):c.6922-9C>G
|
rs760085677
|
0.00001
|
NM_001042492.3(NF1):c.6927G>A (p.Ser2309=)
|
rs763028083
|
0.00001
|
NM_001042492.3(NF1):c.6936C>G (p.His2312Gln)
|
rs1567618937
|
0.00001
|
NM_001042492.3(NF1):c.6945C>G (p.Leu2315=)
|
rs751893971
|
0.00001
|
NM_001042492.3(NF1):c.6958G>A (p.Val2320Met)
|
rs766323701
|
0.00001
|
NM_001042492.3(NF1):c.7005C>T (p.Thr2335=)
|
rs2040793
|
0.00001
|
NM_001042492.3(NF1):c.7009C>T (p.Leu2337Phe)
|
rs367734104
|
0.00001
|
NM_001042492.3(NF1):c.7014T>C (p.Leu2338=)
|
rs1309666510
|
0.00001
|
NM_001042492.3(NF1):c.7020A>G (p.Gln2340=)
|
rs777399429
|
0.00001
|
NM_001042492.3(NF1):c.7023C>T (p.Asn2341=)
|
rs1208205873
|
0.00001
|
NM_001042492.3(NF1):c.7032T>C (p.Thr2344=)
|
rs1201730858
|
0.00001
|
NM_001042492.3(NF1):c.7039A>G (p.Ser2347Gly)
|
rs1060500318
|
0.00001
|
NM_001042492.3(NF1):c.703T>C (p.Tyr235His)
|
rs864622465
|
0.00001
|
NM_001042492.3(NF1):c.7044C>T (p.Leu2348=)
|
rs1350755921
|
0.00001
|
NM_001042492.3(NF1):c.7045C>T (p.Arg2349Cys)
|
rs56013763
|
0.00001
|
NM_001042492.3(NF1):c.7062+8A>G
|
rs864622468
|
0.00001
|
NM_001042492.3(NF1):c.7071G>A (p.Glu2357=)
|
rs1368077280
|
0.00001
|
NM_001042492.3(NF1):c.7074A>G (p.Glu2358=)
|
rs1388098913
|
0.00001
|
NM_001042492.3(NF1):c.7080T>A (p.Phe2360Leu)
|
rs2069866250
|
0.00001
|
NM_001042492.3(NF1):c.7086A>C (p.Ala2362=)
|
rs1241296625
|
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.7092G>A (p.Arg2364=)
|
rs762081710
|
0.00001
|
NM_001042492.3(NF1):c.7110C>T (p.His2370=)
|
rs201881479
|
0.00001
|
NM_001042492.3(NF1):c.7135G>A (p.Gly2379Arg)
|
rs775476318
|
0.00001
|
NM_001042492.3(NF1):c.7142A>G (p.Asn2381Ser)
|
rs878853912
|
0.00001
|
NM_001042492.3(NF1):c.7148A>G (p.Asn2383Ser)
|
rs146296921
|
0.00001
|
NM_001042492.3(NF1):c.7149C>T (p.Asn2383=)
|
rs2069868799
|
0.00001
|
NM_001042492.3(NF1):c.7190-4G>A
|
rs1414521347
|
0.00001
|
NM_001042492.3(NF1):c.7190-7T>G
|
rs779081215
|
0.00001
|
NM_001042492.3(NF1):c.7191G>A (p.Gly2397=)
|
rs773474652
|
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.7298C>T (p.Thr2433Ile)
|
rs755749772
|
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.7306G>A (p.Val2436Met)
|
rs876659856
|
0.00001
|
NM_001042492.3(NF1):c.731-15A>G
|
rs768576285
|
0.00001
|
NM_001042492.3(NF1):c.731-5T>C
|
rs1597659721
|
0.00001
|
NM_001042492.3(NF1):c.7314C>T (p.Tyr2438=)
|
rs1060500385
|
0.00001
|
NM_001042492.3(NF1):c.7321+9A>G
|
rs779562583
|
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.7326A>G (p.Leu2442=)
|
rs753224880
|
0.00001
|
NM_001042492.3(NF1):c.732A>C (p.Glu244Asp)
|
rs1567826603
|
0.00001
|
NM_001042492.3(NF1):c.7332A>G (p.Thr2444=)
|
rs759005886
|
0.00001
|
NM_001042492.3(NF1):c.7335G>A (p.Val2445=)
|
rs1333741084
|
0.00001
|
NM_001042492.3(NF1):c.7341A>C (p.Glu2447Asp)
|
rs878853915
|
0.00001
|
NM_001042492.3(NF1):c.7349G>A (p.Arg2450Gln)
|
rs533110479
|
0.00001
|
NM_001042492.3(NF1):c.7359C>T (p.Cys2453=)
|
rs1555536126
|
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.7397T>C (p.Ile2466Thr)
|
rs771915484
|
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.7454A>G (p.Tyr2485Cys)
|
rs1022605462
|
0.00001
|
NM_001042492.3(NF1):c.7456A>G (p.Arg2486Gly)
|
rs752162999
|
0.00001
|
NM_001042492.3(NF1):c.7457+16C>T
|
rs571308300
|
0.00001
|
NM_001042492.3(NF1):c.7458-20C>G
|
rs1281985112
|
0.00001
|
NM_001042492.3(NF1):c.7479A>G (p.Pro2493=)
|
rs144957306
|
0.00001
|
NM_001042492.3(NF1):c.747A>G (p.Leu249=)
|
rs761964963
|
0.00001
|
NM_001042492.3(NF1):c.7487C>G (p.Ser2496Cys)
|
rs371773406
|
0.00001
|
NM_001042492.3(NF1):c.7496G>C (p.Gly2499Ala)
|
rs375176282
|
0.00001
|
NM_001042492.3(NF1):c.7496G>T (p.Gly2499Val)
|
rs375176282
|
0.00001
|
NM_001042492.3(NF1):c.7503A>G (p.Glu2501=)
|
rs1466552910
|
0.00001
|
NM_001042492.3(NF1):c.7513G>A (p.Ala2505Thr)
|
rs786202955
|
0.00001
|
NM_001042492.3(NF1):c.7515A>C (p.Ala2505=)
|
rs768857964
|
0.00001
|
NM_001042492.3(NF1):c.7525C>T (p.Pro2509Ser)
|
rs886052803
|
0.00001
|
NM_001042492.3(NF1):c.7533C>T (p.Val2511=)
|
rs760733171
|
0.00001
|
NM_001042492.3(NF1):c.7534G>A (p.Gly2512Ser)
|
rs766496842
|
0.00001
|
NM_001042492.3(NF1):c.7536C>T (p.Gly2512=)
|
rs786203187
|
0.00001
|
NM_001042492.3(NF1):c.7552G>A (p.Ala2518Thr)
|
rs1567625163
|
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.7615+19T>C
|
rs773687866
|
0.00001
|
NM_001042492.3(NF1):c.7616-10T>C
|
rs2070272477
|
0.00001
|
NM_001042492.3(NF1):c.7616-15A>C
|
rs952554990
|
0.00001
|
NM_001042492.3(NF1):c.7616-4A>G
|
rs761675429
|
0.00001
|
NM_001042492.3(NF1):c.7623G>A (p.Arg2541=)
|
rs876660737
|
0.00001
|
NM_001042492.3(NF1):c.7626A>G (p.Lys2542=)
|
rs1369187055
|
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.7647A>G (p.Ser2549=)
|
rs750342324
|
0.00001
|
NM_001042492.3(NF1):c.7668G>C (p.Arg2556Ser)
|
rs876659035
|
0.00001
|
NM_001042492.3(NF1):c.7675A>G (p.Met2559Val)
|
rs779373258
|
0.00001
|
NM_001042492.3(NF1):c.7700C>T (p.Pro2567Leu)
|
rs754511534
|
0.00001
|
NM_001042492.3(NF1):c.7729T>C (p.Tyr2577His)
|
rs778143477
|
0.00001
|
NM_001042492.3(NF1):c.7738+15A>G
|
rs769825571
|
0.00001
|
NM_001042492.3(NF1):c.7738+17T>C
|
rs1226267135
|
0.00001
|
NM_001042492.3(NF1):c.7739-5T>C
|
rs1156443249
|
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.7780C>T (p.Arg2594Cys)
|
rs372787215
|
0.00001
|
NM_001042492.3(NF1):c.7781G>A (p.Arg2594His)
|
rs774781617
|
0.00001
|
NM_001042492.3(NF1):c.7793T>C (p.Val2598Ala)
|
rs760531845
|
0.00001
|
NM_001042492.3(NF1):c.7810C>G (p.Leu2604Val)
|
rs776602307
|
0.00001
|
NM_001042492.3(NF1):c.781A>G (p.Lys261Glu)
|
rs2066156804
|
0.00001
|
NM_001042492.3(NF1):c.7822G>C (p.Glu2608Gln)
|
rs1597866487
|
0.00001
|
NM_001042492.3(NF1):c.7825G>A (p.Val2609Ile)
|
rs786203848
|
0.00001
|
NM_001042492.3(NF1):c.7837C>T (p.Pro2613Ser)
|
rs138839077
|
0.00001
|
NM_001042492.3(NF1):c.7839G>A (p.Pro2613=)
|
rs752218441
|
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.7869+9T>C
|
rs940367528
|
0.00001
|
NM_001042492.3(NF1):c.7870-13_7870-12del
|
rs1491006440
|
0.00001
|
NM_001042492.3(NF1):c.7870-19C>T
|
rs542314717
|
0.00001
|
NM_001042492.3(NF1):c.7870-4G>T
|
rs1400960047
|
0.00001
|
NM_001042492.3(NF1):c.7872T>A (p.Ala2624=)
|
rs1399938334
|
0.00001
|
NM_001042492.3(NF1):c.7875A>G (p.Thr2625=)
|
rs763646216
|
0.00001
|
NM_001042492.3(NF1):c.7876C>G (p.Leu2626Val)
|
rs1555536748
|
0.00001
|
NM_001042492.3(NF1):c.7887T>C (p.Tyr2629=)
|
rs767860040
|
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.7897G>A (p.Glu2633Lys)
|
rs750754640
|
0.00001
|
NM_001042492.3(NF1):c.78A>T (p.Gly26=)
|
rs748018099
|
0.00001
|
NM_001042492.3(NF1):c.7901T>C (p.Phe2634Ser)
|
rs756567782
|
0.00001
|
NM_001042492.3(NF1):c.7931C>G (p.Ala2644Gly)
|
rs766494934
|
0.00001
|
NM_001042492.3(NF1):c.7943T>G (p.Val2648Gly)
|
rs1487025591
|
0.00001
|
NM_001042492.3(NF1):c.7951C>T (p.Pro2651Ser)
|
rs367858662
|
0.00001
|
NM_001042492.3(NF1):c.7962T>C (p.Phe2654=)
|
rs1597867008
|
0.00001
|
NM_001042492.3(NF1):c.7970+16T>G
|
rs967311672
|
0.00001
|
NM_001042492.3(NF1):c.7971-7C>A
|
rs754359027
|
0.00001
|
NM_001042492.3(NF1):c.7971-8T>C
|
rs766889741
|
0.00001
|
NM_001042492.3(NF1):c.7980G>A (p.Leu2660=)
|
rs758573977
|
0.00001
|
NM_001042492.3(NF1):c.7981T>C (p.Leu2661=)
|
rs777848844
|
0.00001
|
NM_001042492.3(NF1):c.8012T>C (p.Leu2671Ser)
|
rs1207124870
|
0.00001
|
NM_001042492.3(NF1):c.8013G>A (p.Leu2671=)
|
rs769548773
|
0.00001
|
NM_001042492.3(NF1):c.8080T>C (p.Ser2694Pro)
|
rs876658554
|
0.00001
|
NM_001042492.3(NF1):c.8091A>G (p.Gln2697=)
|
rs760433938
|
0.00001
|
NM_001042492.3(NF1):c.8092T>C (p.Tyr2698His)
|
rs1405312220
|
0.00001
|
NM_001042492.3(NF1):c.8097A>G (p.Gln2699=)
|
rs1286475305
|
0.00001
|
NM_001042492.3(NF1):c.8106C>T (p.Tyr2702=)
|
rs754271057
|
0.00001
|
NM_001042492.3(NF1):c.8113+13A>G
|
rs1007172637
|
0.00001
|
NM_001042492.3(NF1):c.8114-11A>G
|
rs1316433767
|
0.00001
|
NM_001042492.3(NF1):c.8114-18A>G
|
rs775834346
|
0.00001
|
NM_001042492.3(NF1):c.8114-20T>A
|
rs1224591407
|
0.00001
|
NM_001042492.3(NF1):c.8114-7G>A
|
rs763549780
|
0.00001
|
NM_001042492.3(NF1):c.8114-9T>C
|
rs1597868711
|
0.00001
|
NM_001042492.3(NF1):c.8150C>T (p.Pro2717Leu)
|
rs778799019
|
0.00001
|
NM_001042492.3(NF1):c.8160+12T>C
|
rs777080866
|
0.00001
|
NM_001042492.3(NF1):c.8160+13A>G
|
rs2070341050
|
0.00001
|
NM_001042492.3(NF1):c.8161-16C>T
|
rs1262893944
|
0.00001
|
NM_001042492.3(NF1):c.8182G>A (p.Ala2728Thr)
|
rs750603086
|
0.00001
|
NM_001042492.3(NF1):c.8192T>C (p.Ile2731Thr)
|
rs1567628605
|
0.00001
|
NM_001042492.3(NF1):c.8237T>C (p.Ile2746Thr)
|
rs756800001
|
0.00001
|
NM_001042492.3(NF1):c.8238T>G (p.Ile2746Met)
|
rs779789452
|
0.00001
|
NM_001042492.3(NF1):c.824T>C (p.Ile275Thr)
|
rs1406698961
|
0.00001
|
NM_001042492.3(NF1):c.8289T>G (p.Pro2763=)
|
rs1335800376
|
0.00001
|
NM_001042492.3(NF1):c.8296C>G (p.Leu2766Val)
|
rs749647961
|
0.00001
|
NM_001042492.3(NF1):c.8298G>A (p.Leu2766=)
|
rs768947696
|
0.00001
|
NM_001042492.3(NF1):c.8324A>G (p.Asn2775Ser)
|
rs772090874
|
0.00001
|
NM_001042492.3(NF1):c.8377+11G>A
|
rs754068299
|
0.00001
|
NM_001042492.3(NF1):c.8377+20A>G
|
rs201289884
|
0.00001
|
NM_001042492.3(NF1):c.8377+4A>G
|
rs1224454019
|
0.00001
|
NM_001042492.3(NF1):c.8378-12C>G
|
rs1293358316
|
0.00001
|
NM_001042492.3(NF1):c.8378-4C>T
|
rs587782700
|
0.00001
|
NM_001042492.3(NF1):c.8378-6C>T
|
rs761763159
|
0.00001
|
NM_001042492.3(NF1):c.8378G>C (p.Gly2793Ala)
|
rs1275285522
|
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.8423G>C (p.Cys2808Ser)
|
rs148473245
|
0.00001
|
NM_001042492.3(NF1):c.843C>A (p.Ile281=)
|
rs146094856
|
0.00001
|
NM_001042492.3(NF1):c.8446G>A (p.Gly2816Arg)
|
rs778233452
|
0.00001
|
NM_001042492.3(NF1):c.844C>A (p.Gln282Lys)
|
rs753054046
|
0.00001
|
NM_001042492.3(NF1):c.8451C>T (p.Ser2817=)
|
rs547090599
|
0.00001
|
NM_001042492.3(NF1):c.845A>G (p.Gln282Arg)
|
rs779034900
|
0.00001
|
NM_001042492.3(NF1):c.8463G>A (p.Val2821=)
|
rs746049685
|
0.00001
|
NM_001042492.3(NF1):c.8478C>T (p.Ser2826=)
|
rs770148738
|
0.00001
|
NM_001042492.3(NF1):c.848A>T (p.Asp283Val)
|
rs878853921
|
0.00001
|
NM_001042492.3(NF1):c.8495G>A (p.Arg2832His)
|
rs587781523
|
0.00001
|
NM_001042492.3(NF1):c.8497A>G (p.Asn2833Asp)
|
rs786202863
|
0.00001
|
NM_001042492.3(NF1):c.8500A>G (p.Ser2834Gly)
|
rs764858484
|
0.00001
|
NM_001042492.3(NF1):c.8514C>T (p.Ile2838=)
|
rs1567634589
|
0.00001
|
NM_001042492.3(NF1):c.8515G>A (p.Val2839Met)
|
rs368149035
|
0.00001
|
NM_001042492.3(NF1):c.853T>G (p.Ser285Ala)
|
rs1555608981
|
0.00001
|
NM_001042492.3(NF1):c.862G>A (p.Val288Met)
|
rs755670651
|
0.00001
|
NM_001042492.3(NF1):c.873A>C (p.Glu291Asp)
|
rs754915138
|
0.00001
|
NM_001042492.3(NF1):c.876C>T (p.Asn292=)
|
rs786202811
|
0.00001
|
NM_001042492.3(NF1):c.888+10G>A
|
rs773474511
|
0.00001
|
NM_001042492.3(NF1):c.888+5G>A
|
rs556444929
|
0.00001
|
NM_001042492.3(NF1):c.888+8G>A
|
rs772234682
|
0.00001
|
NM_001042492.3(NF1):c.888+9G>C
|
rs1274043045
|
0.00001
|
NM_001042492.3(NF1):c.889-11G>A
|
rs1361582007
|
0.00001
|
NM_001042492.3(NF1):c.889-6del
|
rs864622362
|
0.00001
|
NM_001042492.3(NF1):c.909A>G (p.Leu303=)
|
rs876659803
|
0.00001
|
NM_001042492.3(NF1):c.911G>A (p.Arg304Gln)
|
rs76015786
|
0.00001
|
NM_001042492.3(NF1):c.91C>T (p.His31Tyr)
|
rs786202864
|
0.00001
|
NM_001042492.3(NF1):c.948G>A (p.Leu316=)
|
rs876658782
|
0.00001
|
NM_001042492.3(NF1):c.964A>G (p.Ile322Val)
|
rs755007999
|
0.00001
|
NM_001042492.3(NF1):c.969C>T (p.Ala323=)
|
rs786201462
|
0.00001
|
NM_001042492.3(NF1):c.970T>G (p.Cys324Gly)
|
rs199474735
|
0.00001
|
NC_000017.10:g.(?_29386946)_(29560072_?)del
|
|
|
NC_000017.10:g.(?_29420318)_29701183del
|
|
|
NC_000017.10:g.(?_29422048)_(29422407_?)del
|
|
|
NC_000017.10:g.(?_29422048)_(29490404_?)dup
|
|
|
NC_000017.10:g.(?_29422048)_(29497025_?)dup
|
|
|
NC_000017.10:g.(?_29422048)_(29510472_?)dup
|
|
|
NC_000017.10:g.(?_29422048)_(29527428_?)del
|
|
|
NC_000017.10:g.(?_29422048)_(29592367_?)dup
|
|
|
NC_000017.10:g.(?_29422055)_(29422407_?)del
|
|
|
NC_000017.10:g.(?_29422055)_(29497035_?)del
|
|
|
NC_000017.10:g.(?_29422055)_(29533409_?)del
|
|
|
NC_000017.10:g.(?_29422055)_(29533409_?)dup
|
|
|
NC_000017.10:g.(?_29422055)_(29541613_?)del
|
|
|
NC_000017.10:g.(?_29422055)_(29552288_?)dup
|
|
|
NC_000017.10:g.(?_29422308)_(29497035_?)del
|
|
|
NC_000017.10:g.(?_29422314)_(29548957_?)del
|
|
|
NC_000017.10:g.(?_29422322)_(29497021_?)dup
|
|
|
NC_000017.10:g.(?_29422322)_(29592363_?)dup
|
|
|
NC_000017.10:g.(?_29431418)_(29580296_?)dup
|
|
|
NC_000017.10:g.(?_29475515)_(29490414_?)dup
|
|
|
NC_000017.10:g.(?_29475515)_(29542762_?)dup
|
|
|
NC_000017.10:g.(?_29475515)_(29592377_?)dup
|
|
|
NC_000017.10:g.(?_29482981)_(29483164_?)del
|
|
|
NC_000017.10:g.(?_29482981)_(29486131_?)del
|
|
|
NC_000017.10:g.(?_29482991)_(29497025_?)del
|
|
|
NC_000017.10:g.(?_29482991)_(29534143_?)dup
|
|
|
NC_000017.10:g.(?_29482991)_(29548957_?)dup
|
|
|
NC_000017.10:g.(?_29482991)_(29577082_?)del
|
|
|
NC_000017.10:g.(?_29482991)_(29592377_?)del
|
|
|
NC_000017.10:g.(?_29486008)_(29486131_?)del
|
|
|
NC_000017.10:g.(?_29486008)_(29592377_?)del
|
|
|
NC_000017.10:g.(?_29486018)_(29488136_?)dup
|
|
|
NC_000017.10:g.(?_29486022)_(29533395_?)del
|
|
|
NC_000017.10:g.(?_29487248)_(29497025_?)del
|
|
|
NC_000017.10:g.(?_29490184)_(29592377_?)del
|
|
|
NC_000017.10:g.(?_29490194)_(29490404_?)del
|
|
|
NC_000017.10:g.(?_29490198)_(29497021_?)del
|
|
|
NC_000017.10:g.(?_29490395)_(29491750_?)del
|
|
|
NC_000017.10:g.(?_29508420)_(29592377_?)del
|
|
|
NC_000017.10:g.(?_29508426)_(29508813_?)del
|
|
|
NC_000017.10:g.(?_29508426)_(29510472_?)dup
|
|
|
NC_000017.10:g.(?_29508430)_(29592367_?)del
|
|
|
NC_000017.10:g.(?_29508434)_(29509689_?)del
|
|
|
NC_000017.10:g.(?_29508652)_(29510182_?)del
|
|
|
NC_000017.10:g.(?_29527420)_(29527633_?)del
|
|
|
NC_000017.10:g.(?_29527428)_(29530107_?)del
|
|
|
NC_000017.10:g.(?_29527428)_(29534143_?)del
|
|
|
NC_000017.10:g.(?_29527428)_(29592367_?)del
|
|
|
NC_000017.10:g.(?_29527466)_(29530584_?)del
|
|
|
NC_000017.10:g.(?_29528409)_(29533409_?)del
|
|
|
NC_000017.10:g.(?_29528423)_(29528509_?)del
|
|
|
NC_000017.10:g.(?_29528523)_(29563921_?)del
|
|
|
NC_000017.10:g.(?_29533238)_(29533409_?)del
|
|
|
NC_000017.10:g.(?_29539914)_(29542278_?)del
|
|
|
NC_000017.10:g.(?_29540877)_(29542762_?)dup
|
|
|
NC_000017.10:g.(?_29540877)_(29563299_?)dup
|
|
|
NC_000017.10:g.(?_29541449)_(29557963_?)dup
|
|
|
NC_000017.10:g.(?_29541567)_(29580544_?)del
|
|
|
NC_000017.10:g.(?_29546003)_(29576157_?)del
|
|
|
NC_000017.10:g.(?_29546013)_(29546146_?)del
|
|
|
NC_000017.10:g.(?_29546017)_(29585526_?)dup
|
|
|
NC_000017.10:g.(?_29547895)_(29556446_?)del
|
|
|
NC_000017.10:g.(?_29548419)_(29557002_?)del
|
|
|
NC_000017.10:g.(?_29548858)_(29549489_?)del
|
|
|
NC_000017.10:g.(?_29549489)_(29552278_?)del
|
|
|
NC_000017.10:g.(?_29552093)_(29557963_?)del
|
|
|
NC_000017.10:g.(?_29552255)_(29555825_?)del
|
|
|
NC_000017.10:g.(?_29553439)_(29557002_?)dup
|
|
|
NC_000017.10:g.(?_29556023)_(29563059_?)dup
|
|
|
NC_000017.10:g.(?_29556370)_(29563755_?)del
|
|
|
NC_000017.10:g.(?_29556977)_(29561861_?)del
|
|
|
NC_000017.10:g.(?_29557258)_(29563059_?)del
|
|
|
NC_000017.10:g.(?_29557300)_(29559486_?)del
|
|
|
NC_000017.10:g.(?_29558432)_(29559785_?)del
|
|
|
NC_000017.10:g.(?_29559071)_(29563059_?)del
|
|
|
NC_000017.10:g.(?_29562619)_(29563299_?)del
|
|
|
NC_000017.10:g.(?_29562619)_(29563299_?)dup
|
|
|
NC_000017.10:g.(?_29572504)_(29576069_?)del
|
|
|
NC_000017.10:g.(?_29575982)_(29587553_?)del
|
|
|
NC_000017.10:g.(?_29575992)_(29576147_?)dup
|
|
|
NC_000017.10:g.(?_29575992)_(29577082_?)del
|
|
|
NC_000017.10:g.(?_29575992)_(29587543_?)del
|
|
|
NC_000017.10:g.(?_29575992)_(29592367_?)dup
|
|
|
NC_000017.10:g.(?_29585342)_(29588895_?)del
|
|
|
NC_000017.10:g.(?_29585352)_(29585530_?)del
|
|
|
NC_000017.10:g.(?_29585352)_(29588885_?)dup
|
|
|
NC_000017.10:g.(?_29585352)_(29592367_?)del
|
|
|
NC_000017.10:g.(?_29585399)_(29597250_?)del
|
|
|
NC_000017.10:g.(?_29587367)_(29592377_?)dup
|
|
|
NC_000017.10:g.(?_29588715)_(29592367_?)del
|
|
|
NC_000017.10:g.(?_29592237)_(29592367_?)del
|
|
|
NC_000017.10:g.(?_29652818)_(29664918_?)dup
|
|
|
NC_000017.10:g.(?_29652818)_(29670173_?)del
|
|
|
NC_000017.10:g.(?_29652818)_(29679452_?)dup
|
|
|
NC_000017.10:g.(?_29652828)_(29657526_?)dup
|
|
|
NC_000017.10:g.(?_29652828)_(29677346_?)del
|
|
|
NC_000017.10:g.(?_29652828)_(29684397_?)del
|
|
|
NC_000017.10:g.(?_29652828)_(29687731_?)del
|
|
|
NC_000017.10:g.(?_29652828)_(29701173_?)del
|
|
|
NC_000017.10:g.(?_29653962)_(29657319_?)del
|
|
|
NC_000017.10:g.(?_29654497)_(29670173_?)del
|
|
|
NC_000017.10:g.(?_29654511)_(29667669_?)del
|
|
|
NC_000017.10:g.(?_29654575)_(29667842_?)del
|
|
|
NC_000017.10:g.(?_29661577)_(29662069_?)del
|
|
|
NC_000017.10:g.(?_29661577)_(29663942_?)del
|
|
|
NC_000017.10:g.(?_29661577)_(29701173_?)dup
|
|
|
NC_000017.10:g.(?_29661836)_(29665177_?)del
|
|
|
NC_000017.10:g.(?_29662314)_(29663699_?)del
|
|
|
NC_000017.10:g.(?_29663331)_(29670173_?)del
|
|
|
NC_000017.10:g.(?_29663341)_(29665833_?)del
|
|
|
NC_000017.10:g.(?_29663341)_(29665833_?)dup
|
|
|
NC_000017.10:g.(?_29663341)_(29679442_?)del
|
|
|
NC_000017.10:g.(?_29663378)_(29663849_?)del
|
|
|
NC_000017.10:g.(?_29664827)_(29701173_?)dup
|
|
|
NC_000017.10:g.(?_29667503)_(29701173_?)del
|
|
|
NC_000017.10:g.(?_29670017)_(29670163_?)del
|
|
|
NC_000017.10:g.(?_29676118)_(29687741_?)del
|
|
|
NC_000017.10:g.(?_29676126)_(29677346_?)del
|
|
|
NC_000017.10:g.(?_29676126)_(29679442_?)del
|
|
|
NC_000017.10:g.(?_29676126)_(29701173_?)dup
|
|
|
NC_000017.10:g.(?_29677181)_(29687741_?)del
|
|
|
NC_000017.10:g.(?_29677191)_(29677346_?)del
|
|
|
NC_000017.10:g.(?_29679265)_(29701173_?)dup
|
|
|
NC_000017.10:g.(?_29679265)_(29701183_?)dup
|
|
|
NC_000017.10:g.(?_29679379)_(29680920_?)del
|
|
|
NC_000017.10:g.(?_29685177)_(29686053_?)del
|
|
|
NC_000017.10:g.(?_29685478)_(29701173_?)del
|
|
|
NC_000017.10:g.(?_29687485)_(29701173_?)del
|
|
|
NC_000017.10:g.(?_29687495)_(29701173_?)dup
|
|
|
NC_000017.10:g.(?_29701011)_(29701173_?)dup
|
|
|
NC_000017.10:g.(?_29701011)_(29701193_?)dup
|
|
|
NC_000017.10:g.(?_29701021)_(29701183_?)dup
|
|
|
NC_000017.10:g.(?_29701025)_(29701178_?)dup
|
|
|
NC_000017.10:g.(?_29701031)_(29704695_?)dup
|
|
|
NC_000017.11:g.(31082496_31133240)dup
|
|
|
NC_000017.11:g.(31324267_31327162)del
|
|
|
NC_000017.11:g.(?_31095030)_(31095379_?)del
|
|
|
NC_000017.11:g.(?_31095030)_(31104404_?)dup
|
|
|
NC_000017.11:g.(?_31095030)_(31170007_?)del
|
|
|
NC_000017.11:g.(?_31095290)_(31095389_?)del
|
|
|
NC_000017.11:g.(?_31095290)_(31183409_?)del
|
|
|
NC_000017.11:g.(?_31095300)_(31265349_?)dup
|
|
|
NC_000017.11:g.(?_31155973)_(31156136_?)del
|
|
|
NC_000017.11:g.(?_31155973)_(31265349_?)dup
|
|
|
NC_000017.11:g.(?_31159000)_(31182675_?)dup
|
|
|
NC_000017.11:g.(?_31160230)_(31163386_?)del
|
|
|
NC_000017.11:g.(?_31163186)_(31163376_?)del
|
|
|
NC_000017.11:g.(?_31163186)_(31169997_?)del
|
|
|
NC_000017.11:g.(?_31169881)_(31183454_?)del
|
|
|
NC_000017.11:g.(?_31169881)_(31236031_?)dup
|
|
|
NC_000017.11:g.(?_31169881)_(31249129_?)dup
|
|
|
NC_000017.11:g.(?_31181402)_(31182685_?)del
|
|
|
NC_000017.11:g.(?_31181402)_(31253278_?)del
|
|
|
NC_000017.11:g.(?_31181408)_(31183454_?)del
|
|
|
NC_000017.11:g.(?_31200402)_(31206391_?)del
|
|
|
NC_000017.11:g.(?_31200402)_(31265359_?)del
|
|
|
NC_000017.11:g.(?_31200412)_(31206381_?)del
|
|
|
NC_000017.11:g.(?_31200412)_(31265349_?)del
|
|
|
NC_000017.11:g.(?_31200416)_(31206377_?)del
|
|
|
NC_000017.11:g.(?_31200422)_(31265339_?)del
|
|
|
NC_000017.11:g.(?_31218985)_(31222471_?)del
|
|
|
NC_000017.11:g.(?_31225075)_(31236281_?)del
|
|
|
NC_000017.11:g.(?_31229825)_(31265349_?)del
|
|
|
NC_000017.11:g.(?_31232063)_(31236281_?)del
|
|
|
NC_000017.11:g.(?_31232063)_(31249129_?)del
|
|
|
NC_000017.11:g.(?_31248964)_(31265359_?)del
|
|
|
NC_000017.11:g.(?_31248974)_(31265349_?)del
|
|
|
NC_000017.11:g.(?_31325814)_(31338145_?)del
|
|
|
NC_000017.11:g.(?_31327479)_(31327859_?)del
|
|
|
NC_000017.11:g.(?_31327499)_(31327839_?)del
|
|
|
NC_000017.11:g.(?_31334828)_(31335041_?)del
|
|
|
NC_000017.11:g.(?_31334832)_(31335037_?)del
|
|
|
NC_000017.11:g.(?_31336313)_(31340665_?)del
|
|
|
NC_000017.11:g.(?_31336323)_(31340655_?)del
|
|
|
NC_000017.11:g.(?_31342999)_(31360713_?)del
|
|
|
NC_000017.11:g.(?_31342999)_(31374165_?)del
|
|
|
NC_000017.11:g.(?_31343009)_(31343135_?)del
|
|
|
NC_000017.11:g.(?_31352247)_(31352424_?)del
|
|
|
NC_000017.11:g.(?_31374003)_(31374155_?)del
|
|
|
NC_000017.11:g.(?_31374003)_(31374155_?)dup
|
|
|
NC_000017.11:g.31201048_31201049insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGAACCTGCTTTTT
|
|
|
NC_000017.11:g.31214584GT[3]
|
|
|
NC_000017.11:g.31221839_31221853A[6]TTCAGGCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAATTCAGGCTC[1]
|
|
|
NC_000017.11:g.31225094GCAG[1]
|
rs2144025582
|
|
NC_000017.11:g.31229025del
|
rs2151428776
|
|
NC_000017.11:g.31230842del
|
|
|
NC_000017.11:g.31232715_31232716insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGCGCTGGGCGTGGGCACACGCTGGAGCATCCAGTGGGGGCTGTGGTACAGGCGTGAGCCACCGCGCCCGGCCGATACTTCACATTATTT
|
|
|
NC_000017.11:g.31233003_31233008dup
|
|
|
NC_000017.11:g.[31162374_31182520del;31182521_31250996inv;31250997_31266506del]
|
|
|
NF1, 1-BP DEL, 4071C
|
|
|
NG_009018.1(NF1):g.[134769_136954del2186;136931_139830del2900]
|
|
|
NG_009018.1:g.246621_246622insN[320]
|
|
|
NM_000267.3(NF1):c.1260+220_7553-1095del
|
|
|
NM_000267.3(NF1):c.129_130ins568 (p.?)
|
|
|
NM_000267.3(NF1):c.1393-1905_2251+85dup
|
|
|
NM_000267.3(NF1):c.1393-3329_3975-6377del
|
|
|
NM_000267.3(NF1):c.1393_1394delAG
|
rs1597698310
|
|
NM_000267.3(NF1):c.1527+443_3709-761dup
|
|
|
NM_000267.3(NF1):c.1641+156_3975-2222del
|
|
|
NM_000267.3(NF1):c.1845+537_4661+331del
|
|
|
NM_000267.3(NF1):c.1846-613_4773-1009delinsTTAGGTTTAT
|
|
|
NM_000267.3(NF1):c.204+155_2990+53del
|
|
|
NM_000267.3(NF1):c.206_207delGA
|
rs1060500321
|
|
NM_000267.3(NF1):c.2252delG
|
rs1597713259
|
|
NM_000267.3(NF1):c.3015_3315-230del
|
|
|
NM_000267.3(NF1):c.3047_3048insSVAelement
|
rs2067091515
|
|
NM_000267.3(NF1):c.3496+57_4772+2639dup
|
|
|
NM_000267.3(NF1):c.3497delG
|
rs1567851231
|
|
NM_000267.3(NF1):c.3708+598_4772+16224del
|
|
|
NM_000267.3(NF1):c.3709-266_7259-397delinsCAG
|
|
|
NM_000267.3(NF1):c.4111delG
|
|
|
NM_000267.3(NF1):c.4368-391_4515-122delins105
|
|
|
NM_000267.3(NF1):c.4368-?_5943+?del
|
|
|
NM_000267.3(NF1):c.4515-343_8314+3380del
|
|
|
NM_000267.3(NF1):c.4516del
|
rs2067689357
|
|
NM_000267.3(NF1):c.4661+1660_4773-8837del
|
|
|
NM_000267.3(NF1):c.4662-1076_4772+1300delins260
|
|
|
NM_000267.3(NF1):c.4773-2116_7127-1817delinsAGTTACC
|
|
|
NM_000267.3(NF1):c.4773-23713_7907+14del
|
|
|
NM_000267.3(NF1):c.480-134_8315-6206del
|
|
|
NM_000267.3(NF1):c.480delG
|
rs1597643722
|
|
NM_000267.3(NF1):c.4941_7127-2901del
|
|
|
NM_000267.3(NF1):c.5206delG
|
rs1555533549
|
|
NM_000267.3(NF1):c.5749+189_6999+1035del
|
|
|
NM_000267.3(NF1):c.5749+6_6858+633delins130
|
|
|
NM_000267.3(NF1):c.586+1209_1845+35del
|
|
|
NM_000267.3(NF1):c.587-282_8315-3687del
|
|
|
NM_000267.3(NF1):c.5943+265_7000-999delins15
|
|
|
NM_000267.3(NF1):c.5943+448_7127-414del
|
|
|
NM_000267.3(NF1):c.5944-?_6858+?del
|
|
|
NM_000267.3(NF1):c.60+24136_587-5022del
|
|
|
NM_000267.3(NF1):c.60+3120_3975-326del
|
|
|
NM_000267.3(NF1):c.6085del
|
|
|
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter)
|
rs876657715
|
|
NM_000267.3(NF1):c.7128delG
|
rs1597858338
|
|
NM_000267.3(NF1):c.730+32dup
|
rs71142032
|
|
NM_000267.3(NF1):c.731-302_8314+3681del
|
|
|
NM_000267.3(NF1):c.7395-?_*3522+?dup
|
|
|
NM_000267.3(NF1):c.7884_8315-5528del
|
|
|
NM_000267.3(NF1):c.888+3798_5750-2053del
|
|
|
NM_000267.3(NF1):c.888+5515_1261-1635del
|
|
|
NM_000267.3(NF1):c.888+8334_1721+34delinsTC
|
|
|
NM_000267.3(NF1):c.889-1633_7395-667del
|
|
|
NM_000267.3(NF1):c.889-8107_1261-278del
|
|
|
NM_000267.3(NF1):c.889-8381_6757-5del
|
|
|
NM_000267.3:c.(3708_+1_3709-1)_(3974+1_3975-1)del
|
|
|
NM_000267.3:c.(?_-383)_(60+1_61-1)del
|
|
|
NM_000267.3:c.1491_4110+4407del
|
|
|
NM_000267.3:c.3975-1046_4110+902deins333
|
|
|
NM_000267.3:c.3975-364_4515-510indel810
|
|
|
NM_000267.3:c.5547-961+5943+244del
|
|
|
NM_000267.3:c.7566_8314+3321_delinsCGCCACGGC
|
|
|
NM_001042492.2(NF1):c.[6708delT;6710C>G]
|
|
|
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.1000A>C (p.Ile334Leu)
|
|
|
NM_001042492.3(NF1):c.1002C>A (p.Ile334=)
|
|
|
NM_001042492.3(NF1):c.1002C>G (p.Ile334Met)
|
rs2143873647
|
|
NM_001042492.3(NF1):c.1002del (p.Asn335fs)
|
rs2143873673
|
|
NM_001042492.3(NF1):c.1003_1006del (p.Asn335fs)
|
rs2143873710
|
|
NM_001042492.3(NF1):c.1007G>A (p.Trp336Ter)
|
rs2066508712
|
|
NM_001042492.3(NF1):c.1008G>A (p.Trp336Ter)
|
rs2143873786
|
|
NM_001042492.3(NF1):c.1009G>A (p.Glu337Lys)
|
|
|
NM_001042492.3(NF1):c.1012G>A (p.Asp338Asn)
|
|
|
NM_001042492.3(NF1):c.1013A>G (p.Asp338Gly)
|
rs199474773
|
|
NM_001042492.3(NF1):c.1014T>C (p.Asp338=)
|
rs2066508867
|
|
NM_001042492.3(NF1):c.1014del (p.Asp338fs)
|
|
|
NM_001042492.3(NF1):c.1015A>G (p.Asn339Asp)
|
|
|
NM_001042492.3(NF1):c.1017C>T (p.Asn339=)
|
rs2143873940
|
|
NM_001042492.3(NF1):c.1017_1061dup (p.Asn339_Leu353dup)
|
rs2143873915
|
|
NM_001042492.3(NF1):c.1018T>G (p.Ser340Ala)
|
rs1567835228
|
|
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs)
|
rs1555610903
|
|
NM_001042492.3(NF1):c.1019_1020insGA (p.Val341fs)
|
|
|
NM_001042492.3(NF1):c.101T>C (p.Val34Ala)
|
rs1217358160
|
|
NM_001042492.3(NF1):c.101T>G (p.Val34Gly)
|
|
|
NM_001042492.3(NF1):c.1020_1021insAT (p.Val341fs)
|
|
|
NM_001042492.3(NF1):c.1020dup (p.Val341fs)
|
rs1555610905
|
|
NM_001042492.3(NF1):c.1021G>A (p.Val341Ile)
|
rs1555610907
|
|
NM_001042492.3(NF1):c.1021_1022del (p.Val341fs)
|
rs2066509100
|
|
NM_001042492.3(NF1):c.1021_1038del (p.Val341_Val346del)
|
rs2143874028
|
|
NM_001042492.3(NF1):c.1022_1023insGA (p.Ile342fs)
|
rs2143874087
|
|
NM_001042492.3(NF1):c.1023C>T (p.Val341=)
|
rs776720136
|
|
NM_001042492.3(NF1):c.1023_1024del (p.Ile342fs)
|
rs2143874127
|
|
NM_001042492.3(NF1):c.1023_1024insGACA (p.Ile342fs)
|
rs2143874147
|
|
NM_001042492.3(NF1):c.1024A>G (p.Ile342Val)
|
rs2066509214
|
|
NM_001042492.3(NF1):c.1025T>G (p.Ile342Ser)
|
|
|
NM_001042492.3(NF1):c.1028_1031del (p.Phe343fs)
|
|
|
NM_001042492.3(NF1):c.1028del (p.Phe343fs)
|
|
|
NM_001042492.3(NF1):c.1029C>A (p.Phe343Leu)
|
rs745914493
|
|
NM_001042492.3(NF1):c.1029C>G (p.Phe343Leu)
|
|
|
NM_001042492.3(NF1):c.1029C>T (p.Phe343=)
|
|
|
NM_001042492.3(NF1):c.102C>A (p.Val34=)
|
rs760823948
|
|
NM_001042492.3(NF1):c.102C>T (p.Val34=)
|
rs760823948
|
|
NM_001042492.3(NF1):c.1030C>T (p.Leu344=)
|
rs2143874237
|
|
NM_001042492.3(NF1):c.1030del (p.Leu344fs)
|
rs2143874232
|
|
NM_001042492.3(NF1):c.1031T>C (p.Leu344Pro)
|
|
|
NM_001042492.3(NF1):c.1032A>T (p.Leu344=)
|
rs199832006
|
|
NM_001042492.3(NF1):c.1033C>T (p.Leu345Phe)
|
|
|
NM_001042492.3(NF1):c.1034_1035insGTTTTCCTACT (p.Val346fs)
|
rs2066509240
|
|
NM_001042492.3(NF1):c.1035T>C (p.Leu345=)
|
rs2143874306
|
|
NM_001042492.3(NF1):c.1036G>A (p.Val346Ile)
|
|
|
NM_001042492.3(NF1):c.1036del (p.Val346fs)
|
rs2066509487
|
|
NM_001042492.3(NF1):c.1036dup (p.Val346fs)
|
|
|
NM_001042492.3(NF1):c.1037T>C (p.Val346Ala)
|
rs1597681117
|
|
NM_001042492.3(NF1):c.1038del (p.Gln347fs)
|
rs2143874352
|
|
NM_001042492.3(NF1):c.1039C>G (p.Gln347Glu)
|
rs1555610910
|
|
NM_001042492.3(NF1):c.1039C>T (p.Gln347Ter)
|
rs1555610910
|
|
NM_001042492.3(NF1):c.103A>T (p.Ser35Cys)
|
rs2143625843
|
|
NM_001042492.3(NF1):c.1041_1045del (p.Gln347fs)
|
rs1135402800
|
|
NM_001042492.3(NF1):c.1041del (p.Gln347fs)
|
|
|
NM_001042492.3(NF1):c.1042T>C (p.Ser348Pro)
|
rs864622064
|
|
NM_001042492.3(NF1):c.1045A>G (p.Met349Val)
|
rs776050648
|
|
NM_001042492.3(NF1):c.1048G>C (p.Val350Leu)
|
|
|
NM_001042492.3(NF1):c.104G>A (p.Ser35Asn)
|
rs1060500282
|
|
NM_001042492.3(NF1):c.1050G>A (p.Val350=)
|
|
|
NM_001042492.3(NF1):c.1051G>A (p.Val351Ile)
|
rs1597681173
|
|
NM_001042492.3(NF1):c.1052T>A (p.Val351Asp)
|
rs878853861
|
|
NM_001042492.3(NF1):c.1052T>C (p.Val351Ala)
|
rs878853861
|
|
NM_001042492.3(NF1):c.1054del (p.Asp352fs)
|
rs2143874573
|
|
NM_001042492.3(NF1):c.1056T>C (p.Asp352=)
|
rs2143874593
|
|
NM_001042492.3(NF1):c.1057C>G (p.Leu353Val)
|
rs2066510027
|
|
NM_001042492.3(NF1):c.1057C>T (p.Leu353Phe)
|
|
|
NM_001042492.3(NF1):c.1057_1062del (p.Leu353_Lys354del)
|
|
|
NM_001042492.3(NF1):c.1058T>C (p.Leu353Pro)
|
rs2066510063
|
|
NM_001042492.3(NF1):c.1058T>G (p.Leu353Arg)
|
|
|
NM_001042492.3(NF1):c.1059T>G (p.Leu353=)
|
|
|
NM_001042492.3(NF1):c.1059del (p.Lys354fs)
|
rs863224488
|
|
NM_001042492.3(NF1):c.1060A>T (p.Lys354Ter)
|
|
|
NM_001042492.3(NF1):c.1060_1061del (p.Lys354fs)
|
|
|
NM_001042492.3(NF1):c.1061A>C (p.Lys354Thr)
|
rs1135402801
|
|
NM_001042492.3(NF1):c.1061A>G (p.Lys354Arg)
|
rs1135402801
|
|
NM_001042492.3(NF1):c.1061_1062+12del
|
|
|
NM_001042492.3(NF1):c.1061_1062dup (p.Asn355fs)
|
|
|
NM_001042492.3(NF1):c.1062+10T>C
|
rs1198681277
|
|
NM_001042492.3(NF1):c.1062+14T>G
|
|
|
NM_001042492.3(NF1):c.1062+15C>G
|
|
|
NM_001042492.3(NF1):c.1062+19C>A
|
|
|
NM_001042492.3(NF1):c.1062+1G>A
|
rs1597681200
|
|
NM_001042492.3(NF1):c.1062+1G>T
|
rs1597681200
|
|
NM_001042492.3(NF1):c.1062+1del
|
|
|
NM_001042492.3(NF1):c.1062+2T>A
|
|
|
NM_001042492.3(NF1):c.1062+2T>C
|
rs2066510391
|
|
NM_001042492.3(NF1):c.1062+2T>G
|
rs2066510391
|
|
NM_001042492.3(NF1):c.1062+2del
|
rs2066510443
|
|
NM_001042492.3(NF1):c.1062+2dup
|
rs2066510417
|
|
NM_001042492.3(NF1):c.1062+3A>C
|
rs1057521098
|
|
NM_001042492.3(NF1):c.1062+3A>G
|
rs1057521098
|
|
NM_001042492.3(NF1):c.1062+3A>T
|
|
|
NM_001042492.3(NF1):c.1062+4A>G
|
rs1243650794
|
|
NM_001042492.3(NF1):c.1062+5C>T
|
rs1555610916
|
|
NM_001042492.3(NF1):c.1062+6A>C
|
rs1060500291
|
|
NM_001042492.3(NF1):c.1062+6A>T
|
|
|
NM_001042492.3(NF1):c.1062+8_1062+13del
|
rs2143874865
|
|
NM_001042492.3(NF1):c.1062+9del
|
|
|
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.1062G>T (p.Lys354Asn)
|
rs1131691118
|
|
NM_001042492.3(NF1):c.1062_1062+2dup
|
|
|
NM_001042492.3(NF1):c.1062_1062+6del
|
rs2066510244
|
|
NM_001042492.3(NF1):c.1063-10G>A
|
rs2143878286
|
|
NM_001042492.3(NF1):c.1063-10G>T
|
rs2143878286
|
|
NM_001042492.3(NF1):c.1063-12G>C
|
|
|
NM_001042492.3(NF1):c.1063-13G>A
|
rs1131691066
|
|
NM_001042492.3(NF1):c.1063-14T>A
|
rs538708444
|
|
NM_001042492.3(NF1):c.1063-15T>C
|
rs1293182487
|
|
NM_001042492.3(NF1):c.1063-16G>A
|
rs200652866
|
|
NM_001042492.3(NF1):c.1063-16G>C
|
|
|
NM_001042492.3(NF1):c.1063-17T>C
|
|
|
NM_001042492.3(NF1):c.1063-18C>T
|
|
|
NM_001042492.3(NF1):c.1063-1G>A
|
rs1555610955
|
|
NM_001042492.3(NF1):c.1063-1G>C
|
rs1555610955
|
|
NM_001042492.3(NF1):c.1063-1G>T
|
rs1555610955
|
|
NM_001042492.3(NF1):c.1063-1del
|
|
|
NM_001042492.3(NF1):c.1063-2A>C
|
|
|
NM_001042492.3(NF1):c.1063-2A>G
|
rs1060500358
|
|
NM_001042492.3(NF1):c.1063-3T>G
|
rs758206740
|
|
NM_001042492.3(NF1):c.1063-3_1063del
|
|
|
NM_001042492.3(NF1):c.1063-4A>G
|
|
|
NM_001042492.3(NF1):c.1066del (p.Leu356fs)
|
rs1597681864
|
|
NM_001042492.3(NF1):c.1067del (p.Leu356fs)
|
rs2143878420
|
|
NM_001042492.3(NF1):c.1068G>A (p.Leu356=)
|
rs1259636575
|
|
NM_001042492.3(NF1):c.1069C>A (p.Leu357Ile)
|
rs1567835662
|
|
NM_001042492.3(NF1):c.1069C>G (p.Leu357Val)
|
rs1567835662
|
|
NM_001042492.3(NF1):c.1069C>T (p.Leu357Phe)
|
rs1567835662
|
|
NM_001042492.3(NF1):c.106A>C (p.Thr36Pro)
|
|
|
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.1071T>G (p.Leu357=)
|
rs2143878503
|
|
NM_001042492.3(NF1):c.1073T>A (p.Phe358Tyr)
|
rs2066518753
|
|
NM_001042492.3(NF1):c.1073T>C (p.Phe358Ser)
|
rs2066518753
|
|
NM_001042492.3(NF1):c.1073_1074insA (p.Phe358fs)
|
rs1555610971
|
|
NM_001042492.3(NF1):c.1074del (p.Phe358fs)
|
|
|
NM_001042492.3(NF1):c.1075_1096del (p.Asn359fs)
|
|
|
NM_001042492.3(NF1):c.1076A>G (p.Asn359Ser)
|
|
|
NM_001042492.3(NF1):c.1076A>T (p.Asn359Ile)
|
rs2143878548
|
|
NM_001042492.3(NF1):c.1077T>A (p.Asn359Lys)
|
rs2066518822
|
|
NM_001042492.3(NF1):c.1077del (p.Pro360fs)
|
rs1555610972
|
|
NM_001042492.3(NF1):c.1078C>A (p.Pro360Thr)
|
rs1597681902
|
|
NM_001042492.3(NF1):c.1078C>T (p.Pro360Ser)
|
rs1597681902
|
|
NM_001042492.3(NF1):c.107C>T (p.Thr36Ile)
|
rs199966218
|
|
NM_001042492.3(NF1):c.1080A>G (p.Pro360=)
|
rs777642846
|
|
NM_001042492.3(NF1):c.1080_1081del (p.Pro360_Ser361insTer)
|
|
|
NM_001042492.3(NF1):c.1081A>G (p.Ser361Gly)
|
|
|
NM_001042492.3(NF1):c.1081del (p.Ser361fs)
|
|
|
NM_001042492.3(NF1):c.1082del (p.Ser361fs)
|
|
|
NM_001042492.3(NF1):c.1084A>G (p.Lys362Glu)
|
rs2066519027
|
|
NM_001042492.3(NF1):c.1084A>T (p.Lys362Ter)
|
|
|
NM_001042492.3(NF1):c.1086G>A (p.Lys362=)
|
rs1597681929
|
|
NM_001042492.3(NF1):c.1089A>C (p.Pro363=)
|
|
|
NM_001042492.3(NF1):c.108T>A (p.Thr36=)
|
|
|
NM_001042492.3(NF1):c.108T>C (p.Thr36=)
|
rs876660776
|
|
NM_001042492.3(NF1):c.108_111dup (p.His38Ter)
|
rs2065655815
|
|
NM_001042492.3(NF1):c.1092C>T (p.Phe364=)
|
rs2143878725
|
|
NM_001042492.3(NF1):c.1093T>C (p.Ser365Pro)
|
rs2143878749
|
|
NM_001042492.3(NF1):c.1094C>A (p.Ser365Ter)
|
rs864622107
|
|
NM_001042492.3(NF1):c.1094C>G (p.Ser365Ter)
|
rs864622107
|
|
NM_001042492.3(NF1):c.1094C>T (p.Ser365Leu)
|
|
|
NM_001042492.3(NF1):c.1095A>T (p.Ser365=)
|
rs150814769
|
|
NM_001042492.3(NF1):c.1095_1096del (p.Gly367fs)
|
rs1597681960
|
|
NM_001042492.3(NF1):c.1096A>G (p.Arg366Gly)
|
|
|
NM_001042492.3(NF1):c.1096_1102del (p.Arg366fs)
|
|
|
NM_001042492.3(NF1):c.1096dup (p.Arg366fs)
|
rs2143878810
|
|
NM_001042492.3(NF1):c.1097dup (p.Gly367fs)
|
rs2066519416
|
|
NM_001042492.3(NF1):c.1098A>G (p.Arg366=)
|
rs1597681964
|
|
NM_001042492.3(NF1):c.1099_1115dup (p.Asp372fs)
|
rs2143878832
|
|
NM_001042492.3(NF1):c.109G>A (p.Glu37Lys)
|
rs2143625963
|
|
NM_001042492.3(NF1):c.109G>T (p.Glu37Ter)
|
rs2143625963
|
|
NM_001042492.3(NF1):c.109del (p.Glu37fs)
|
|
|
NM_001042492.3(NF1):c.1101C>G (p.Gly367=)
|
rs2066519556
|
|
NM_001042492.3(NF1):c.1101del (p.Ser368fs)
|
rs2143878939
|
|
NM_001042492.3(NF1):c.1101dup (p.Ser368fs)
|
|
|
NM_001042492.3(NF1):c.1102A>T (p.Ser368Cys)
|
|
|
NM_001042492.3(NF1):c.1102del (p.Ser368fs)
|
rs2143878968
|
|
NM_001042492.3(NF1):c.1103G>A (p.Ser368Asn)
|
rs1597681975
|
|
NM_001042492.3(NF1):c.1103del (p.Ser368fs)
|
|
|
NM_001042492.3(NF1):c.1103dup (p.Ser368fs)
|
rs2066519656
|
|
NM_001042492.3(NF1):c.1104_1107del (p.Gln369fs)
|
rs1555610984
|
|
NM_001042492.3(NF1):c.1105C>T (p.Gln369Ter)
|
|
|
NM_001042492.3(NF1):c.1107G>A (p.Gln369=)
|
rs1193249274
|
|
NM_001042492.3(NF1):c.1108C>T (p.Pro370Ser)
|
rs878853862
|
|
NM_001042492.3(NF1):c.1109dup (p.Ala371fs)
|
|
|
NM_001042492.3(NF1):c.1110del (p.Ala371fs)
|
rs2066519817
|
|
NM_001042492.3(NF1):c.1112C>T (p.Ala371Val)
|
rs1597681991
|
|
NM_001042492.3(NF1):c.1113A>C (p.Ala371=)
|
rs786201652
|
|
NM_001042492.3(NF1):c.1113A>G (p.Ala371=)
|
rs786201652
|
|
NM_001042492.3(NF1):c.1115A>T (p.Asp372Val)
|
rs2066519935
|
|
NM_001042492.3(NF1):c.1116del (p.Asp372fs)
|
rs2143879304
|
|
NM_001042492.3(NF1):c.1117G>A (p.Val373Met)
|
|
|
NM_001042492.3(NF1):c.1118T>C (p.Val373Ala)
|
rs1597682016
|
|
NM_001042492.3(NF1):c.111G>A (p.Glu37=)
|
rs1555604893
|
|
NM_001042492.3(NF1):c.1120G>A (p.Asp374Asn)
|
rs876658666
|
|
NM_001042492.3(NF1):c.1121_1122del (p.Asp374fs)
|
rs1597682030
|
|
NM_001042492.3(NF1):c.1122T>C (p.Asp374=)
|
rs2143879438
|
|
NM_001042492.3(NF1):c.1123C>G (p.Leu375Val)
|
|
|
NM_001042492.3(NF1):c.1123_1124del (p.Leu375fs)
|
|
|
NM_001042492.3(NF1):c.1124T>A (p.Leu375Gln)
|
|
|
NM_001042492.3(NF1):c.1126del (p.Leu375_Met376insTer)
|
|
|
NM_001042492.3(NF1):c.1127T>C (p.Met376Thr)
|
|
|
NM_001042492.3(NF1):c.1128G>A (p.Met376Ile)
|
rs2143879572
|
|
NM_001042492.3(NF1):c.1129A>G (p.Ile377Val)
|
rs2143879598
|
|
NM_001042492.3(NF1):c.1129A>T (p.Ile377Phe)
|
rs2143879598
|
|
NM_001042492.3(NF1):c.1129_1136del (p.Ile377fs)
|
rs2066520145
|
|
NM_001042492.3(NF1):c.1130_1133del (p.Ile377fs)
|
rs2143879547
|
|
NM_001042492.3(NF1):c.1131T>C (p.Ile377=)
|
rs1555610993
|
|
NM_001042492.3(NF1):c.1131del (p.Ile377fs)
|
|
|
NM_001042492.3(NF1):c.1131dup (p.Asp378Ter)
|
|
|
NM_001042492.3(NF1):c.1132del (p.Asp378fs)
|
rs2143879675
|
|
NM_001042492.3(NF1):c.1133_1134insATGA (p.Asp378delinsGluTer)
|
rs2143879651
|
|
NM_001042492.3(NF1):c.1133_1136del (p.Asp378fs)
|
rs2143879667
|
|
NM_001042492.3(NF1):c.1134C>G (p.Asp378Glu)
|
rs781367679
|
|
NM_001042492.3(NF1):c.1135T>C (p.Cys379Arg)
|
rs1060500281
|
|
NM_001042492.3(NF1):c.1138C>G (p.Leu380Val)
|
|
|
NM_001042492.3(NF1):c.1139T>A (p.Leu380His)
|
rs1555611004
|
|
NM_001042492.3(NF1):c.1139T>C (p.Leu380Pro)
|
rs1555611004
|
|
NM_001042492.3(NF1):c.1139T>G (p.Leu380Arg)
|
rs1555611004
|
|
NM_001042492.3(NF1):c.1140T>A (p.Leu380=)
|
|
|
NM_001042492.3(NF1):c.1140del (p.Val381fs)
|
|
|
NM_001042492.3(NF1):c.1141G>T (p.Val381Phe)
|
rs876660276
|
|
NM_001042492.3(NF1):c.1143_1144del (p.Ser382fs)
|
rs1135402802
|
|
NM_001042492.3(NF1):c.1144T>C (p.Ser382Pro)
|
rs2066520625
|
|
NM_001042492.3(NF1):c.1144del (p.Ser382fs)
|
rs1135402802
|
|
NM_001042492.3(NF1):c.1145C>T (p.Ser382Phe)
|
rs1555611016
|
|
NM_001042492.3(NF1):c.1145_1146del (p.Ser382fs)
|
|
|
NM_001042492.3(NF1):c.1146T>G (p.Ser382=)
|
rs2143879905
|
|
NM_001042492.3(NF1):c.1147T>A (p.Cys383Ser)
|
|
|
NM_001042492.3(NF1):c.1148G>T (p.Cys383Phe)
|
rs1597682085
|
|
NM_001042492.3(NF1):c.1149C>T (p.Cys383=)
|
rs2143879948
|
|
NM_001042492.3(NF1):c.1149del (p.Arg385fs)
|
|
|
NM_001042492.3(NF1):c.114CAA[1] (p.Asn39del)
|
|
|
NM_001042492.3(NF1):c.1152del (p.Arg385fs)
|
rs1135402803
|
|
NM_001042492.3(NF1):c.1152dup (p.Arg385fs)
|
|
|
NM_001042492.3(NF1):c.1153C>A (p.Arg385Ser)
|
|
|
NM_001042492.3(NF1):c.1153del (p.Arg385fs)
|
rs2066520848
|
|
NM_001042492.3(NF1):c.1154G>A (p.Arg385His)
|
rs1350329837
|
|
NM_001042492.3(NF1):c.1155T>C (p.Arg385=)
|
rs2143880061
|
|
NM_001042492.3(NF1):c.1156dup (p.Ile386fs)
|
|
|
NM_001042492.3(NF1):c.1157T>C (p.Ile386Thr)
|
rs2143880084
|
|
NM_001042492.3(NF1):c.1157_1178dup (p.Phe394fs)
|
|
|
NM_001042492.3(NF1):c.1160G>A (p.Ser387Asn)
|
rs1555611025
|
|
NM_001042492.3(NF1):c.1161C>T (p.Ser387=)
|
|
|
NM_001042492.3(NF1):c.1162C>T (p.Pro388Ser)
|
rs2143880229
|
|
NM_001042492.3(NF1):c.1163del (p.Pro388fs)
|
|
|
NM_001042492.3(NF1):c.1166dup (p.His389fs)
|
|
|
NM_001042492.3(NF1):c.1167C>T (p.His389=)
|
|
|
NM_001042492.3(NF1):c.116A>G (p.Asn39Ser)
|
rs1567814494
|
|
NM_001042492.3(NF1):c.116A>T (p.Asn39Ile)
|
rs1567814494
|
|
NM_001042492.3(NF1):c.116del (p.Asn39fs)
|
|
|
NM_001042492.3(NF1):c.1170C>G (p.Asn390Lys)
|
|
|
NM_001042492.3(NF1):c.1172A>G (p.Asn391Ser)
|
|
|
NM_001042492.3(NF1):c.1174C>T (p.Gln392Ter)
|
rs1597682137
|
|
NM_001042492.3(NF1):c.1175A>G (p.Gln392Arg)
|
|
|
NM_001042492.3(NF1):c.1175_1179del (p.Gln392fs)
|
|
|
NM_001042492.3(NF1):c.1177C>T (p.His393Tyr)
|
rs199474768
|
|
NM_001042492.3(NF1):c.1178A>G (p.His393Arg)
|
rs199474769
|
|
NM_001042492.3(NF1):c.1179C>A (p.His393Gln)
|
|
|
NM_001042492.3(NF1):c.1179C>G (p.His393Gln)
|
|
|
NM_001042492.3(NF1):c.1179C>T (p.His393=)
|
|
|
NM_001042492.3(NF1):c.1179del (p.Phe394fs)
|
rs2143880536
|
|
NM_001042492.3(NF1):c.117C>T (p.Asn39=)
|
rs1555604894
|
|
NM_001042492.3(NF1):c.1181_1182del (p.His393_Phe394insTer)
|
|
|
NM_001042492.3(NF1):c.1181_1182dup (p.Lys395fs)
|
rs1597682159
|
|
NM_001042492.3(NF1):c.1182T>A (p.Phe394Leu)
|
|
|
NM_001042492.3(NF1):c.1182T>G (p.Phe394Leu)
|
rs786202581
|
|
NM_001042492.3(NF1):c.1182del (p.Phe394fs)
|
|
|
NM_001042492.3(NF1):c.1182dup (p.Lys395Ter)
|
rs1597682159
|
|
NM_001042492.3(NF1):c.1183A>C (p.Lys395Gln)
|
rs770767889
|
|
NM_001042492.3(NF1):c.1183A>G (p.Lys395Glu)
|
rs770767889
|
|
NM_001042492.3(NF1):c.1183_1185+2del
|
rs1555611039
|
|
NM_001042492.3(NF1):c.1184A>C (p.Lys395Thr)
|
|
|
NM_001042492.3(NF1):c.1184del (p.Lys395fs)
|
|
|
NM_001042492.3(NF1):c.1185+10T>G
|
rs759048037
|
|
NM_001042492.3(NF1):c.1185+12G>A
|
|
|
NM_001042492.3(NF1):c.1185+13G>A
|
|
|
NM_001042492.3(NF1):c.1185+13G>T
|
|
|
NM_001042492.3(NF1):c.1185+16T>G
|
rs533490337
|
|
NM_001042492.3(NF1):c.1185+17T>C
|
|
|
NM_001042492.3(NF1):c.1185+1G>A
|
rs864622161
|
|
NM_001042492.3(NF1):c.1185+1G>C
|
|
|
NM_001042492.3(NF1):c.1185+1G>T
|
rs864622161
|
|
NM_001042492.3(NF1):c.1185+1_1185+5del
|
rs2143880646
|
|
NM_001042492.3(NF1):c.1185+20T>G
|
rs2066522265
|
|
NM_001042492.3(NF1):c.1185+2T>A
|
|
|
NM_001042492.3(NF1):c.1185+2T>C
|
rs1555611043
|
|
NM_001042492.3(NF1):c.1185+2T>G
|
rs1555611043
|
|
NM_001042492.3(NF1):c.1185+2dup
|
|
|
NM_001042492.3(NF1):c.1185+5G>A
|
rs1597682182
|
|
NM_001042492.3(NF1):c.1185+5G>C
|
rs1597682182
|
|
NM_001042492.3(NF1):c.1185+6A>G
|
|
|
NM_001042492.3(NF1):c.1185+6A>T
|
|
|
NM_001042492.3(NF1):c.1185+7G>C
|
rs1322791959
|
|
NM_001042492.3(NF1):c.1185+7G>T
|
rs1322791959
|
|
NM_001042492.3(NF1):c.1185+9A>T
|
rs776421322
|
|
NM_001042492.3(NF1):c.1185G>A (p.Lys395=)
|
rs1567835847
|
|
NM_001042492.3(NF1):c.1185G>T (p.Lys395Asn)
|
|
|
NM_001042492.3(NF1):c.1186-13T>C
|
|
|
NM_001042492.3(NF1):c.1186-13del
|
rs763903212
|
|
NM_001042492.3(NF1):c.1186-15T>C
|
|
|
NM_001042492.3(NF1):c.1186-16T>C
|
rs2143885173
|
|
NM_001042492.3(NF1):c.1186-18T>C
|
|
|
NM_001042492.3(NF1):c.1186-1G>A
|
rs876660782
|
|
NM_001042492.3(NF1):c.1186-1G>C
|
rs876660782
|
|
NM_001042492.3(NF1):c.1186-1G>T
|
rs876660782
|
|
NM_001042492.3(NF1):c.1186-20T>G
|
|
|
NM_001042492.3(NF1):c.1186-2A>G
|
rs1373365576
|
|
NM_001042492.3(NF1):c.1186-3T>C
|
rs2066527385
|
|
NM_001042492.3(NF1):c.1186-6C>A
|
|
|
NM_001042492.3(NF1):c.1186-6C>T
|
rs200684215
|
|
NM_001042492.3(NF1):c.1186-7T>C
|
rs1597682676
|
|
NM_001042492.3(NF1):c.1186-7del
|
|
|
NM_001042492.3(NF1):c.1186-8T>C
|
rs921012432
|
|
NM_001042492.3(NF1):c.1186A>C (p.Ile396Leu)
|
rs1413735911
|
|
NM_001042492.3(NF1):c.1187T>A (p.Ile396Asn)
|
rs2143885518
|
|
NM_001042492.3(NF1):c.1187T>G (p.Ile396Ser)
|
|
|
NM_001042492.3(NF1):c.1188C>T (p.Ile396=)
|
rs775109720
|
|
NM_001042492.3(NF1):c.1188_1189del (p.Ile396fs)
|
rs1597682729
|
|
NM_001042492.3(NF1):c.1190G>A (p.Cys397Tyr)
|
|
|
NM_001042492.3(NF1):c.1190G>T (p.Cys397Phe)
|
rs786201937
|
|
NM_001042492.3(NF1):c.1190del (p.Cys397fs)
|
rs2143885612
|
|
NM_001042492.3(NF1):c.1191C>T (p.Cys397=)
|
rs2143885629
|
|
NM_001042492.3(NF1):c.1192C>T (p.Leu398=)
|
|
|
NM_001042492.3(NF1):c.1192del (p.Leu398fs)
|
rs2066527734
|
|
NM_001042492.3(NF1):c.1196C>T (p.Ala399Val)
|
|
|
NM_001042492.3(NF1):c.1197T>C (p.Ala399=)
|
rs1597682745
|
|
NM_001042492.3(NF1):c.1198C>G (p.Gln400Glu)
|
|
|
NM_001042492.3(NF1):c.1198C>T (p.Gln400Ter)
|
rs1597682751
|
|
NM_001042492.3(NF1):c.1199A>G (p.Gln400Arg)
|
rs2143885791
|
|
NM_001042492.3(NF1):c.119A>G (p.Lys40Arg)
|
|
|
NM_001042492.3(NF1):c.1200G>C (p.Gln400His)
|
rs2066527837
|
|
NM_001042492.3(NF1):c.1204T>G (p.Ser402Ala)
|
rs2143885887
|
|
NM_001042492.3(NF1):c.1205C>A (p.Ser402Ter)
|
|
|
NM_001042492.3(NF1):c.1207C>A (p.Pro403Thr)
|
rs2066527867
|
|
NM_001042492.3(NF1):c.1207C>T (p.Pro403Ser)
|
rs2066527867
|
|
NM_001042492.3(NF1):c.1208C>T (p.Pro403Leu)
|
|
|
NM_001042492.3(NF1):c.120G>C (p.Lys40Asn)
|
rs2065656004
|
|
NM_001042492.3(NF1):c.1211del (p.Ser404fs)
|
|
|
NM_001042492.3(NF1):c.1212T>G (p.Ser404=)
|
|
|
NM_001042492.3(NF1):c.1212_1213insCGAA (p.Thr405fs)
|
rs2143886056
|
|
NM_001042492.3(NF1):c.1212dup (p.Thr405fs)
|
|
|
NM_001042492.3(NF1):c.1213A>T (p.Thr405Ser)
|
|
|
NM_001042492.3(NF1):c.1214C>T (p.Thr405Ile)
|
rs1555611082
|
|
NM_001042492.3(NF1):c.1215A>C (p.Thr405=)
|
|
|
NM_001042492.3(NF1):c.1215A>T (p.Thr405=)
|
rs1405569320
|
|
NM_001042492.3(NF1):c.1215_1221dup (p.Tyr408fs)
|
|
|
NM_001042492.3(NF1):c.1216T>C (p.Phe406Leu)
|
|
|
NM_001042492.3(NF1):c.1218del (p.His407fs)
|
rs1131691106
|
|
NM_001042492.3(NF1):c.121G>T (p.Glu41Ter)
|
rs1567814497
|
|
NM_001042492.3(NF1):c.1221C>G (p.His407Gln)
|
|
|
NM_001042492.3(NF1):c.1221C>T (p.His407=)
|
rs1439320467
|
|
NM_001042492.3(NF1):c.1222T>C (p.Tyr408His)
|
|
|
NM_001042492.3(NF1):c.1222T>G (p.Tyr408Asp)
|
rs2066528210
|
|
NM_001042492.3(NF1):c.1222dup (p.Tyr408fs)
|
|
|
NM_001042492.3(NF1):c.1224T>A (p.Tyr408Ter)
|
rs1555611089
|
|
NM_001042492.3(NF1):c.1224T>C (p.Tyr408=)
|
rs1555611089
|
|
NM_001042492.3(NF1):c.1224T>G (p.Tyr408Ter)
|
rs1555611089
|
|
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.1227G>A (p.Val409=)
|
rs2143886274
|
|
NM_001042492.3(NF1):c.1228C>T (p.Leu410=)
|
rs2143886319
|
|
NM_001042492.3(NF1):c.1229T>G (p.Leu410Arg)
|
rs1376759287
|
|
NM_001042492.3(NF1):c.122A>C (p.Glu41Ala)
|
rs786203038
|
|
NM_001042492.3(NF1):c.122A>T (p.Glu41Val)
|
rs786203038
|
|
NM_001042492.3(NF1):c.1230G>A (p.Leu410=)
|
rs1168457824
|
|
NM_001042492.3(NF1):c.1230G>T (p.Leu410=)
|
|
|
NM_001042492.3(NF1):c.1231G>A (p.Val411Ile)
|
rs199703072
|
|
NM_001042492.3(NF1):c.1231G>C (p.Val411Leu)
|
|
|
NM_001042492.3(NF1):c.1232T>A (p.Val411Glu)
|
|
|
NM_001042492.3(NF1):c.1233A>G (p.Val411=)
|
rs2143886403
|
|
NM_001042492.3(NF1):c.1234A>T (p.Asn412Tyr)
|
rs2143886448
|
|
NM_001042492.3(NF1):c.1235A>G (p.Asn412Ser)
|
rs1567836090
|
|
NM_001042492.3(NF1):c.1235del (p.Asn412fs)
|
rs2143886422
|
|
NM_001042492.3(NF1):c.1235dup (p.Asn412fs)
|
|
|
NM_001042492.3(NF1):c.1237T>C (p.Ser413Pro)
|
rs1555611093
|
|
NM_001042492.3(NF1):c.1237del (p.Ser413fs)
|
rs2143886507
|
|
NM_001042492.3(NF1):c.1238C>A (p.Ser413Ter)
|
rs1241533665
|
|
NM_001042492.3(NF1):c.1238C>G (p.Ser413Ter)
|
rs1241533665
|
|
NM_001042492.3(NF1):c.1238C>T (p.Ser413Leu)
|
|
|
NM_001042492.3(NF1):c.1239A>G (p.Ser413=)
|
|
|
NM_001042492.3(NF1):c.123del (p.Glu41fs)
|
|
|
NM_001042492.3(NF1):c.123dup (p.Cys42fs)
|
|
|
NM_001042492.3(NF1):c.1241T>C (p.Leu414Pro)
|
|
|
NM_001042492.3(NF1):c.1242C>T (p.Leu414=)
|
|
|
NM_001042492.3(NF1):c.1243del (p.His415fs)
|
|
|
NM_001042492.3(NF1):c.1243dup (p.His415fs)
|
rs1085307728
|
|
NM_001042492.3(NF1):c.1244A>G (p.His415Arg)
|
rs1555611097
|
|
NM_001042492.3(NF1):c.1245del (p.Arg416fs)
|
rs1555611098
|
|
NM_001042492.3(NF1):c.1246C>G (p.Arg416Gly)
|
|
|
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter)
|
rs764079291
|
|
NM_001042492.3(NF1):c.1246del (p.Arg416fs)
|
rs2143886751
|
|
NM_001042492.3(NF1):c.1247G>C (p.Arg416Pro)
|
|
|
NM_001042492.3(NF1):c.1250_1251insTT (p.Ile418fs)
|
rs2143886864
|
|
NM_001042492.3(NF1):c.1250dup (p.Ile418fs)
|
|
|
NM_001042492.3(NF1):c.1251C>T (p.Ile417=)
|
rs1555611103
|
|
NM_001042492.3(NF1):c.1251_1260+25del
|
rs2066528976
|
|
NM_001042492.3(NF1):c.1252A>G (p.Ile418Val)
|
rs1597682898
|
|
NM_001042492.3(NF1):c.1253del (p.Ile418fs)
|
rs2143886904
|
|
NM_001042492.3(NF1):c.1254del (p.Thr419fs)
|
rs761430357
|
|
NM_001042492.3(NF1):c.1255del (p.Thr419fs)
|
rs1555611105
|
|
NM_001042492.3(NF1):c.1257C>A (p.Thr419=)
|
rs774269651
|
|
NM_001042492.3(NF1):c.1257C>G (p.Thr419=)
|
rs774269651
|
|
NM_001042492.3(NF1):c.1257del (p.Asn420fs)
|
rs2143887003
|
|
NM_001042492.3(NF1):c.1258A>C (p.Asn420His)
|
rs2066529281
|
|
NM_001042492.3(NF1):c.1259A>G (p.Asn420Ser)
|
rs1555611107
|
|
NM_001042492.3(NF1):c.125G>A (p.Cys42Tyr)
|
rs2143626240
|
|
NM_001042492.3(NF1):c.125_126dup (p.Leu43fs)
|
rs1555604897
|
|
NM_001042492.3(NF1):c.1260+10A>C
|
rs2143887262
|
|
NM_001042492.3(NF1):c.1260+13G>A
|
rs1314400102
|
|
NM_001042492.3(NF1):c.1260+13G>C
|
|
|
NM_001042492.3(NF1):c.1260+14G>A
|
|
|
NM_001042492.3(NF1):c.1260+14G>T
|
rs2066529819
|
|
NM_001042492.3(NF1):c.1260+15T>C
|
|
|
NM_001042492.3(NF1):c.1260+1604A>G
|
rs1131691067
|
|
NM_001042492.3(NF1):c.1260+16A>G
|
rs2066529931
|
|
NM_001042492.3(NF1):c.1260+16A>T
|
|
|
NM_001042492.3(NF1):c.1260+17T>C
|
|
|
NM_001042492.3(NF1):c.1260+18T>C
|
|
|
NM_001042492.3(NF1):c.1260+19G>A
|
rs373341575
|
|
NM_001042492.3(NF1):c.1260+19G>C
|
rs373341575
|
|
NM_001042492.3(NF1):c.1260+1G>C
|
rs267606603
|
|
NM_001042492.3(NF1):c.1260+1G>T
|
rs267606603
|
|
NM_001042492.3(NF1):c.1260+1_1260+2del
|
|
|
NM_001042492.3(NF1):c.1260+1del
|
rs2143887087
|
|
NM_001042492.3(NF1):c.1260+20C>G
|
|
|
NM_001042492.3(NF1):c.1260+2T>C
|
rs1555611110
|
|
NM_001042492.3(NF1):c.1260+2T>G
|
rs1555611110
|
|
NM_001042492.3(NF1):c.1260+2_1260+3insTT
|
rs1597682922
|
|
NM_001042492.3(NF1):c.1260+2dup
|
rs1597682922
|
|
NM_001042492.3(NF1):c.1260+3A>C
|
rs2066529461
|
|
NM_001042492.3(NF1):c.1260+4A>G
|
rs2066529521
|
|
NM_001042492.3(NF1):c.1260+4A>T
|
rs2066529521
|
|
NM_001042492.3(NF1):c.1260+4_1260+18del
|
|
|
NM_001042492.3(NF1):c.1260+5G>A
|
rs1060500253
|
|
NM_001042492.3(NF1):c.1260+5G>C
|
rs1060500253
|
|
NM_001042492.3(NF1):c.1260+5G>T
|
rs1060500253
|
|
NM_001042492.3(NF1):c.1260+6T>A
|
|
|
NM_001042492.3(NF1):c.1260+6T>C
|
rs1555611111
|
|
NM_001042492.3(NF1):c.1260+6T>G
|
rs1555611111
|
|
NM_001042492.3(NF1):c.1260+7C>T
|
|
|
NM_001042492.3(NF1):c.1260+9A>C
|
|
|
NM_001042492.3(NF1):c.1260+9A>G
|
rs1060503908
|
|
NM_001042492.3(NF1):c.1260T>C (p.Asn420=)
|
rs2143887054
|
|
NM_001042492.3(NF1):c.1261-12_1261-9del
|
|
|
NM_001042492.3(NF1):c.1261-12del
|
rs2143913235
|
|
NM_001042492.3(NF1):c.1261-13T>A
|
rs1597688674
|
|
NM_001042492.3(NF1):c.1261-13T>C
|
rs1597688674
|
|
NM_001042492.3(NF1):c.1261-165_1302del
|
|
|
NM_001042492.3(NF1):c.1261-16del
|
|
|
NM_001042492.3(NF1):c.1261-17T>G
|
|
|
NM_001042492.3(NF1):c.1261-18G>A
|
rs2143913110
|
|
NM_001042492.3(NF1):c.1261-19G>A
|
rs1597688663
|
|
NM_001042492.3(NF1):c.1261-1G>C
|
|
|
NM_001042492.3(NF1):c.1261-1G>T
|
rs2066618707
|
|
NM_001042492.3(NF1):c.1261-20T>A
|
rs2143913090
|
|
NM_001042492.3(NF1):c.1261-20T>C
|
|
|
NM_001042492.3(NF1):c.1261-21T>G
|
rs1597688656
|
|
NM_001042492.3(NF1):c.1261-2A>G
|
rs2066618684
|
|
NM_001042492.3(NF1):c.1261-2A>T
|
rs2066618684
|
|
NM_001042492.3(NF1):c.1261-3T>A
|
rs761761583
|
|
NM_001042492.3(NF1):c.1261-4C>G
|
rs587781820
|
|
NM_001042492.3(NF1):c.1261-4C>T
|
|
|
NM_001042492.3(NF1):c.1261-5T>C
|
rs1597688687
|
|
NM_001042492.3(NF1):c.1261-7T>C
|
rs1597688681
|
|
NM_001042492.3(NF1):c.1261-7del
|
|
|
NM_001042492.3(NF1):c.1261T>A (p.Ser421Thr)
|
rs878853864
|
|
NM_001042492.3(NF1):c.1261T>G (p.Ser421Ala)
|
rs878853864
|
|
NM_001042492.3(NF1):c.1261_1268delinsCCC (p.Ser421fs)
|
rs2066618784
|
|
NM_001042492.3(NF1):c.1262C>T (p.Ser421Phe)
|
|
|
NM_001042492.3(NF1):c.1263C>A (p.Ser421=)
|
rs767410768
|
|
NM_001042492.3(NF1):c.1264G>T (p.Ala422Ser)
|
rs786202145
|
|
NM_001042492.3(NF1):c.1265C>T (p.Ala422Val)
|
rs2143913535
|
|
NM_001042492.3(NF1):c.1266A>G (p.Ala422=)
|
rs1555611565
|
|
NM_001042492.3(NF1):c.1267T>C (p.Leu423=)
|
rs773108080
|
|
NM_001042492.3(NF1):c.126T>A (p.Cys42Ter)
|
|
|
NM_001042492.3(NF1):c.1270G>A (p.Asp424Asn)
|
rs2066619067
|
|
NM_001042492.3(NF1):c.1274G>A (p.Trp425Ter)
|
|
|
NM_001042492.3(NF1):c.1274G>C (p.Trp425Ser)
|
rs1597688734
|
|
NM_001042492.3(NF1):c.1275G>A (p.Trp425Ter)
|
rs2066619128
|
|
NM_001042492.3(NF1):c.1275del (p.Trp425fs)
|
|
|
NM_001042492.3(NF1):c.1277G>A (p.Trp426Ter)
|
|
|
NM_001042492.3(NF1):c.1278G>A (p.Trp426Ter)
|
rs1131691085
|
|
NM_001042492.3(NF1):c.127C>T (p.Leu43=)
|
rs1060503913
|
|
NM_001042492.3(NF1):c.127_129del (p.Leu43del)
|
|
|
NM_001042492.3(NF1):c.1280C>T (p.Pro427Leu)
|
rs1597688746
|
|
NM_001042492.3(NF1):c.1280_1292del (p.Pro427fs)
|
rs1135402804
|
|
NM_001042492.3(NF1):c.1286T>C (p.Ile429Thr)
|
rs2143913858
|
|
NM_001042492.3(NF1):c.1289A>T (p.Asp430Val)
|
|
|
NM_001042492.3(NF1):c.128T>A (p.Leu43Gln)
|
rs1555604899
|
|
NM_001042492.3(NF1):c.128T>C (p.Leu43Pro)
|
rs1555604899
|
|
NM_001042492.3(NF1):c.128T>G (p.Leu43Arg)
|
|
|
NM_001042492.3(NF1):c.1290dup (p.Ala431fs)
|
|
|
NM_001042492.3(NF1):c.1291G>A (p.Ala431Thr)
|
rs2066619337
|
|
NM_001042492.3(NF1):c.1291G>T (p.Ala431Ser)
|
|
|
NM_001042492.3(NF1):c.1291dup (p.Ala431fs)
|
rs2143913948
|
|
NM_001042492.3(NF1):c.1292C>T (p.Ala431Val)
|
|
|
NM_001042492.3(NF1):c.1295T>C (p.Val432Ala)
|
rs866238485
|
|
NM_001042492.3(NF1):c.1296_1297dup (p.Tyr433fs)
|
rs2066619428
|
|
NM_001042492.3(NF1):c.1296delinsATA (p.Cys434fs)
|
rs1772820423
|
|
NM_001042492.3(NF1):c.1298_1302del (p.Tyr433fs)
|
|
|
NM_001042492.3(NF1):c.1299T>A (p.Tyr433Ter)
|
rs876660099
|
|
NM_001042492.3(NF1):c.1299T>G (p.Tyr433Ter)
|
rs876660099
|
|
NM_001042492.3(NF1):c.1299_1314dup (p.Leu439_Arg440insSerLeuGlyTer)
|
|
|
NM_001042492.3(NF1):c.129A>G (p.Leu43=)
|
rs759576680
|
|
NM_001042492.3(NF1):c.129_130insGGGAATACATTATTATGTAAACTTAATTTTAAAAGACAGGAGAAAATCTGTTTTCTGCTGACCAAAGAAGTGACTTATTGATACAAAAGGAACACTAAAGTACAAAAATACCCACTGTCAATAATATGATACAGAGTTAGCAAACCATATACATGATCTCCATGTGGTTATGAATGTAATAGTTGTAAGTGGGTGAGTATTAATACACATTATTTTACGGTTGCAAGTTCACTAGGATCAATTAATCTAATGCAATGGTCAACAATATGACTTCATATGTTAATTGCCTGGGTTTACTATGGGATGATACTGCCAGAAAAGGCTTATGAGACAAGAAAATTACTTCGTGGGATAGCATTTGGTAACTTCCACTGAGAAGTAGAAATTATCTGATTTGTTAGCAAAGAAGGCTAGTGACAACGTACCTCCTGTCGGGCTGGTGCTGCATGTGGCCAGTCTCCTCTGGACAATCCTGTAACATGGGCTGGAGTTCTTCCTGTGGGGAGGGAGTCAGAGTGGCAGTGGACTGATGGCTATAGGACACGGCAGCTGGAGAAGAAGCTGTCTA (p.Ile44delinsGlyAsnThrLeuLeuCysLysLeuAsnPheLysArgGlnGluLysIleCysPheLeuLeuThrLysGluValThrTyrTer)
|
rs2143626219
|
|
NM_001042492.3(NF1):c.129_131del (p.Ile44del)
|
rs1597625973
|
|
NM_001042492.3(NF1):c.1304A>G (p.His435Arg)
|
rs1555611571
|
|
NM_001042492.3(NF1):c.1305C>A (p.His435Gln)
|
|
|
NM_001042492.3(NF1):c.1305C>T (p.His435=)
|
rs786201720
|
|
NM_001042492.3(NF1):c.1307C>G (p.Ser436Trp)
|
|
|
NM_001042492.3(NF1):c.1307C>T (p.Ser436Leu)
|
rs755190083
|
|
NM_001042492.3(NF1):c.1308G>T (p.Ser436=)
|
rs765425127
|
|
NM_001042492.3(NF1):c.1309G>T (p.Val437Phe)
|
rs1555611574
|
|
NM_001042492.3(NF1):c.1309del (p.Val437fs)
|
|
|
NM_001042492.3(NF1):c.130A>G (p.Ile44Val)
|
rs1597625982
|
|
NM_001042492.3(NF1):c.1310T>A (p.Val437Asp)
|
rs876658642
|
|
NM_001042492.3(NF1):c.1310T>C (p.Val437Ala)
|
rs876658642
|
|
NM_001042492.3(NF1):c.1310T>G (p.Val437Gly)
|
|
|
NM_001042492.3(NF1):c.1310_1313del (p.Val437fs)
|
|
|
NM_001042492.3(NF1):c.1312G>T (p.Glu438Ter)
|
|
|
NM_001042492.3(NF1):c.1316T>C (p.Leu439Pro)
|
rs2143914353
|
|
NM_001042492.3(NF1):c.1317T>G (p.Leu439=)
|
|
|
NM_001042492.3(NF1):c.131T>A (p.Ile44Asn)
|
|
|
NM_001042492.3(NF1):c.1321A>G (p.Asn441Asp)
|
rs2066620307
|
|
NM_001042492.3(NF1):c.1324A>G (p.Met442Val)
|
rs2066620431
|
|
NM_001042492.3(NF1):c.1324_1325del (p.Met442fs)
|
rs1135402805
|
|
NM_001042492.3(NF1):c.1324dup (p.Met442fs)
|
|
|
NM_001042492.3(NF1):c.1325del (p.Met442fs)
|
|
|
NM_001042492.3(NF1):c.1326G>A (p.Met442Ile)
|
|
|
NM_001042492.3(NF1):c.1328T>C (p.Phe443Ser)
|
rs1555611581
|
|
NM_001042492.3(NF1):c.1329T>C (p.Phe443=)
|
rs1597688853
|
|
NM_001042492.3(NF1):c.1329_1330insAAAA (p.Gly444fs)
|
|
|
NM_001042492.3(NF1):c.1329del (p.Phe443fs)
|
|
|
NM_001042492.3(NF1):c.1329dup (p.Gly444fs)
|
|
|
NM_001042492.3(NF1):c.132C>G (p.Ile44Met)
|
|
|
NM_001042492.3(NF1):c.132_135del (p.Asn45fs)
|
|
|
NM_001042492.3(NF1):c.132dup (p.Asn45fs)
|
|
|
NM_001042492.3(NF1):c.1330G>A (p.Gly444Ser)
|
|
|
NM_001042492.3(NF1):c.1330G>C (p.Gly444Arg)
|
rs1162173842
|
|
NM_001042492.3(NF1):c.1331G>A (p.Gly444Asp)
|
rs1555611582
|
|
NM_001042492.3(NF1):c.1331G>C (p.Gly444Ala)
|
|
|
NM_001042492.3(NF1):c.1331del (p.Gly444fs)
|
rs1567838293
|
|
NM_001042492.3(NF1):c.1332T>C (p.Gly444=)
|
rs1597688871
|
|
NM_001042492.3(NF1):c.1332T>G (p.Gly444=)
|
|
|
NM_001042492.3(NF1):c.1333_1334insTTTATGTTTGGTG (p.Glu445delinsValTyrValTrpTer)
|
|
|
NM_001042492.3(NF1):c.1335A>G (p.Glu445=)
|
rs1597688882
|
|
NM_001042492.3(NF1):c.1336A>G (p.Thr446Ala)
|
|
|
NM_001042492.3(NF1):c.1338A>C (p.Thr446=)
|
|
|
NM_001042492.3(NF1):c.1338del (p.Leu447fs)
|
|
|
NM_001042492.3(NF1):c.1339C>G (p.Leu447Val)
|
rs2066620866
|
|
NM_001042492.3(NF1):c.1339del (p.Leu447fs)
|
rs2143914685
|
|
NM_001042492.3(NF1):c.1340T>C (p.Leu447Pro)
|
rs1597688896
|
|
NM_001042492.3(NF1):c.1341T>A (p.Leu447=)
|
rs2066620984
|
|
NM_001042492.3(NF1):c.1341_1342del (p.Leu447_His448insTer)
|
rs2143914721
|
|
NM_001042492.3(NF1):c.1342C>A (p.His448Asn)
|
|
|
NM_001042492.3(NF1):c.1343A>G (p.His448Arg)
|
|
|
NM_001042492.3(NF1):c.1343dup (p.His448fs)
|
rs1555611584
|
|
NM_001042492.3(NF1):c.1344dup (p.Lys449Ter)
|
rs1567838311
|
|
NM_001042492.3(NF1):c.1345_1346insGA (p.Lys449fs)
|
rs2143914781
|
|
NM_001042492.3(NF1):c.1346_1347del (p.Lys449fs)
|
rs2066621144
|
|
NM_001042492.3(NF1):c.1346_1347dup (p.Ala450fs)
|
rs2066621144
|
|
NM_001042492.3(NF1):c.1347A>C (p.Lys449Asn)
|
rs2143914827
|
|
NM_001042492.3(NF1):c.1347del (p.Ala450fs)
|
|
|
NM_001042492.3(NF1):c.1348G>A (p.Ala450Thr)
|
rs2143914842
|
|
NM_001042492.3(NF1):c.1348_1349dup (p.Val451fs)
|
rs2066621213
|
|
NM_001042492.3(NF1):c.134A>C (p.Asn45Thr)
|
|
|
NM_001042492.3(NF1):c.1352T>C (p.Val451Ala)
|
rs747466938
|
|
NM_001042492.3(NF1):c.1352T>G (p.Val451Gly)
|
rs747466938
|
|
NM_001042492.3(NF1):c.1354C>T (p.Gln452Ter)
|
rs1555611590
|
|
NM_001042492.3(NF1):c.1355A>T (p.Gln452Leu)
|
rs2066621372
|
|
NM_001042492.3(NF1):c.1356A>C (p.Gln452His)
|
rs1324833228
|
|
NM_001042492.3(NF1):c.1356dup (p.Gly453fs)
|
rs2143914954
|
|
NM_001042492.3(NF1):c.1358G>A (p.Gly453Asp)
|
rs876660915
|
|
NM_001042492.3(NF1):c.1358G>T (p.Gly453Val)
|
rs876660915
|
|
NM_001042492.3(NF1):c.1358del (p.Gly453fs)
|
rs2143914991
|
|
NM_001042492.3(NF1):c.1359T>C (p.Gly453=)
|
rs1555611595
|
|
NM_001042492.3(NF1):c.135T>C (p.Asn45=)
|
rs2143626404
|
|
NM_001042492.3(NF1):c.1361G>A (p.Cys454Tyr)
|
rs983914251
|
|
NM_001042492.3(NF1):c.1362T>A (p.Cys454Ter)
|
rs2066621671
|
|
NM_001042492.3(NF1):c.1362_1364del (p.Cys454_Gly455delinsTer)
|
rs2143915068
|
|
NM_001042492.3(NF1):c.1363_1364delinsAA (p.Gly455Lys)
|
|
|
NM_001042492.3(NF1):c.1364G>A (p.Gly455Glu)
|
|
|
NM_001042492.3(NF1):c.1364G>T (p.Gly455Val)
|
|
|
NM_001042492.3(NF1):c.1367C>T (p.Ala456Val)
|
rs1597688962
|
|
NM_001042492.3(NF1):c.1368A>T (p.Ala456=)
|
|
|
NM_001042492.3(NF1):c.1369C>G (p.His457Asp)
|
|
|
NM_001042492.3(NF1):c.1370A>T (p.His457Leu)
|
rs786202763
|
|
NM_001042492.3(NF1):c.1370_1372del (p.His457del)
|
rs1567838357
|
|
NM_001042492.3(NF1):c.1371C>A (p.His457Gln)
|
rs1318894606
|
|
NM_001042492.3(NF1):c.1371C>G (p.His457Gln)
|
|
|
NM_001042492.3(NF1):c.1372C>G (p.Pro458Ala)
|
rs1597688990
|
|
NM_001042492.3(NF1):c.1372_1373delinsG (p.Pro458fs)
|
rs2066622088
|
|
NM_001042492.3(NF1):c.1373C>A (p.Pro458Gln)
|
rs781555047
|
|
NM_001042492.3(NF1):c.1373C>T (p.Pro458Leu)
|
rs781555047
|
|
NM_001042492.3(NF1):c.1373del (p.Pro458fs)
|
rs2143915236
|
|
NM_001042492.3(NF1):c.1374A>G (p.Pro458=)
|
rs1555611601
|
|
NM_001042492.3(NF1):c.1374dup (p.Ala459fs)
|
rs1135402806
|
|
NM_001042492.3(NF1):c.1376C>A (p.Ala459Glu)
|
rs1131691070
|
|
NM_001042492.3(NF1):c.1376C>T (p.Ala459Val)
|
rs1131691070
|
|
NM_001042492.3(NF1):c.1378A>G (p.Ile460Val)
|
|
|
NM_001042492.3(NF1):c.1379T>C (p.Ile460Thr)
|
rs147417054
|
|
NM_001042492.3(NF1):c.1380A>G (p.Ile460Met)
|
|
|
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.1382G>A (p.Arg461Gln)
|
rs1555611606
|
|
NM_001042492.3(NF1):c.1384A>G (p.Met462Val)
|
|
|
NM_001042492.3(NF1):c.1384del (p.Met462fs)
|
|
|
NM_001042492.3(NF1):c.1387G>A (p.Ala463Thr)
|
|
|
NM_001042492.3(NF1):c.1387G>C (p.Ala463Pro)
|
rs1555611607
|
|
NM_001042492.3(NF1):c.1388C>T (p.Ala463Val)
|
|
|
NM_001042492.3(NF1):c.1389A>G (p.Ala463=)
|
rs1131923
|
|
NM_001042492.3(NF1):c.1390C>T (p.Pro464Ser)
|
|
|
NM_001042492.3(NF1):c.1391C>A (p.Pro464Gln)
|
rs1269425503
|
|
NM_001042492.3(NF1):c.1391C>T (p.Pro464Leu)
|
rs1269425503
|
|
NM_001042492.3(NF1):c.1392+10A>G
|
rs1060503886
|
|
NM_001042492.3(NF1):c.1392+12C>A
|
|
|
NM_001042492.3(NF1):c.1392+15G>A
|
rs1367351928
|
|
NM_001042492.3(NF1):c.1392+15G>C
|
|
|
NM_001042492.3(NF1):c.1392+17A>G
|
rs1164343067
|
|
NM_001042492.3(NF1):c.1392+18T>A
|
|
|
NM_001042492.3(NF1):c.1392+18T>G
|
|
|
NM_001042492.3(NF1):c.1392+1G>A
|
rs267604791
|
|
NM_001042492.3(NF1):c.1392+1G>C
|
rs267604791
|
|
NM_001042492.3(NF1):c.1392+1del
|
rs1060500347
|
|
NM_001042492.3(NF1):c.1392+20T>C
|
|
|
NM_001042492.3(NF1):c.1392+2T>C
|
rs1555611610
|
|
NM_001042492.3(NF1):c.1392+2_1392+8del
|
|
|
NM_001042492.3(NF1):c.1392+2del
|
rs1597689068
|
|
NM_001042492.3(NF1):c.1392+3A>G
|
|
|
NM_001042492.3(NF1):c.1392+4A>G
|
rs1555611611
|
|
NM_001042492.3(NF1):c.1392+5G>A
|
rs199999754
|
|
NM_001042492.3(NF1):c.1392+5_1392+6delinsTT
|
rs587782851
|
|
NM_001042492.3(NF1):c.1392+754T>C
|
|
|
NM_001042492.3(NF1):c.1392+8A>G
|
|
|
NM_001042492.3(NF1):c.1392G>T (p.Pro464=)
|
rs201604273
|
|
NM_001042492.3(NF1):c.1393-12T>C
|
rs1396610590
|
|
NM_001042492.3(NF1):c.1393-1555C>G
|
|
|
NM_001042492.3(NF1):c.1393-17T>C
|
rs2143958306
|
|
NM_001042492.3(NF1):c.1393-1G>A
|
rs1131691131
|
|
NM_001042492.3(NF1):c.1393-1G>C
|
rs1131691131
|
|
NM_001042492.3(NF1):c.1393-1G>T
|
rs1131691131
|
|
NM_001042492.3(NF1):c.1393-20T>C
|
rs1057523234
|
|
NM_001042492.3(NF1):c.1393-2488_1642-648delinsAATAG
|
|
|
NM_001042492.3(NF1):c.1393-2652_1528-892del
|
|
|
NM_001042492.3(NF1):c.1393-2A>G
|
rs1555612266
|
|
NM_001042492.3(NF1):c.1393-2A>T
|
rs1555612266
|
|
NM_001042492.3(NF1):c.1393-2dup
|
rs1394021280
|
|
NM_001042492.3(NF1):c.1393-3_1393-2del
|
rs2066785062
|
|
NM_001042492.3(NF1):c.1393-3dup
|
rs2143958470
|
|
NM_001042492.3(NF1):c.1393-592A>G
|
rs2066773116
|
|
NM_001042492.3(NF1):c.1393-597A>G
|
|
|
NM_001042492.3(NF1):c.1393-5_1398del
|
rs2143958483
|
|
NM_001042492.3(NF1):c.1393-7_1393-2del
|
|
|
NM_001042492.3(NF1):c.1393-9T>C
|
rs1314978150
|
|
NM_001042492.3(NF1):c.1393-9T>G
|
|
|
NM_001042492.3(NF1):c.1393-9del
|
rs2143958360
|
|
NM_001042492.3(NF1):c.1393A>G (p.Ser465Gly)
|
|
|
NM_001042492.3(NF1):c.1394G>A (p.Ser465Asn)
|
|
|
NM_001042492.3(NF1):c.1394del (p.Ser465fs)
|
rs2066785267
|
|
NM_001042492.3(NF1):c.1396C>G (p.Leu466Val)
|
rs2143958637
|
|
NM_001042492.3(NF1):c.1396C>T (p.Leu466Phe)
|
|
|
NM_001042492.3(NF1):c.1398dup (p.Thr467fs)
|
|
|
NM_001042492.3(NF1):c.1399A>C (p.Thr467Pro)
|
|
|
NM_001042492.3(NF1):c.1399_1400insAA (p.Thr467fs)
|
rs778963145
|
|
NM_001042492.3(NF1):c.1399dup (p.Thr467fs)
|
rs778963145
|
|
NM_001042492.3(NF1):c.139T>C (p.Ser47Pro)
|
rs2143626487
|
|
NM_001042492.3(NF1):c.1400C>T (p.Thr467Ile)
|
rs1567841729
|
|
NM_001042492.3(NF1):c.1400_1415del (p.Thr467fs)
|
rs1555612270
|
|
NM_001042492.3(NF1):c.1400del (p.Thr467fs)
|
rs1135402808
|
|
NM_001042492.3(NF1):c.1401A>G (p.Thr467=)
|
rs2143958740
|
|
NM_001042492.3(NF1):c.1404del (p.Phe468fs)
|
|
|
NM_001042492.3(NF1):c.1405A>G (p.Lys469Glu)
|
rs1555612271
|
|
NM_001042492.3(NF1):c.1406A>G (p.Lys469Arg)
|
rs2066785596
|
|
NM_001042492.3(NF1):c.1407A>C (p.Lys469Asn)
|
|
|
NM_001042492.3(NF1):c.1407A>G (p.Lys469=)
|
rs2143958833
|
|
NM_001042492.3(NF1):c.1408G>T (p.Glu470Ter)
|
rs1597698330
|
|
NM_001042492.3(NF1):c.1409A>G (p.Glu470Gly)
|
|
|
NM_001042492.3(NF1):c.140C>T (p.Ser47Phe)
|
|
|
NM_001042492.3(NF1):c.1413_1414delinsT (p.Lys471fs)
|
rs1555612273
|
|
NM_001042492.3(NF1):c.1413del (p.Lys471_Val472insTer)
|
rs746149047
|
|
NM_001042492.3(NF1):c.1414_1440dup (p.Val472_Lys480dup)
|
rs1597698326
|
|
NM_001042492.3(NF1):c.1414del (p.Lys471_Val472insTer)
|
rs2066785835
|
|
NM_001042492.3(NF1):c.1415dup (p.Thr473fs)
|
|
|
NM_001042492.3(NF1):c.1416A>G (p.Val472=)
|
|
|
NM_001042492.3(NF1):c.1417_1418insG (p.Thr473fs)
|
|
|
NM_001042492.3(NF1):c.1418C>T (p.Thr473Ile)
|
rs2143958993
|
|
NM_001042492.3(NF1):c.141C>A (p.Ser47=)
|
|
|
NM_001042492.3(NF1):c.141C>T (p.Ser47=)
|
rs1597626009
|
|
NM_001042492.3(NF1):c.1421G>A (p.Ser474Asn)
|
rs2066785879
|
|
NM_001042492.3(NF1):c.1421G>C (p.Ser474Thr)
|
rs2066785879
|
|
NM_001042492.3(NF1):c.1422C>T (p.Ser474=)
|
rs1597698349
|
|
NM_001042492.3(NF1):c.1422_1423dup (p.Leu475fs)
|
|
|
NM_001042492.3(NF1):c.1423C>G (p.Leu475Val)
|
|
|
NM_001042492.3(NF1):c.1423dup (p.Leu475fs)
|
rs1555612274
|
|
NM_001042492.3(NF1):c.1425del (p.Lys476fs)
|
|
|
NM_001042492.3(NF1):c.1426A>G (p.Lys476Glu)
|
rs2066785949
|
|
NM_001042492.3(NF1):c.1426_1430del (p.Leu475_Lys476insTer)
|
|
|
NM_001042492.3(NF1):c.1429T>C (p.Phe477Leu)
|
rs1555612276
|
|
NM_001042492.3(NF1):c.1431T>A (p.Phe477Leu)
|
rs1555612278
|
|
NM_001042492.3(NF1):c.1431T>C (p.Phe477=)
|
rs1555612278
|
|
NM_001042492.3(NF1):c.1432A>G (p.Lys478Glu)
|
|
|
NM_001042492.3(NF1):c.1439_1442del (p.Lys480fs)
|
rs2143959220
|
|
NM_001042492.3(NF1):c.143A>C (p.Lys48Thr)
|
rs1555604902
|
|
NM_001042492.3(NF1):c.1440del (p.Lys480fs)
|
rs2066786100
|
|
NM_001042492.3(NF1):c.1442del (p.Pro481fs)
|
|
|
NM_001042492.3(NF1):c.1445C>T (p.Thr482Ile)
|
rs1004943800
|
|
NM_001042492.3(NF1):c.1446A>G (p.Thr482=)
|
|
|
NM_001042492.3(NF1):c.1447del (p.Asp483fs)
|
|
|
NM_001042492.3(NF1):c.1449C>A (p.Asp483Glu)
|
|
|
NM_001042492.3(NF1):c.1449C>T (p.Asp483=)
|
rs2143959355
|
|
NM_001042492.3(NF1):c.144del (p.Lys48fs)
|
|
|
NM_001042492.3(NF1):c.1450C>T (p.Leu484=)
|
rs876657544
|
|
NM_001042492.3(NF1):c.1450del (p.Leu484fs)
|
rs2143959373
|
|
NM_001042492.3(NF1):c.1452G>A (p.Leu484=)
|
rs2143959403
|
|
NM_001042492.3(NF1):c.1453G>T (p.Glu485Ter)
|
rs1131691610
|
|
NM_001042492.3(NF1):c.1455_1456del (p.Glu485fs)
|
rs2143959428
|
|
NM_001042492.3(NF1):c.1456A>T (p.Thr486Ser)
|
rs1060500305
|
|
NM_001042492.3(NF1):c.1457C>T (p.Thr486Ile)
|
rs1019393337
|
|
NM_001042492.3(NF1):c.1457del (p.Thr486fs)
|
|
|
NM_001042492.3(NF1):c.1458A>C (p.Thr486=)
|
rs878853866
|
|
NM_001042492.3(NF1):c.1458A>G (p.Thr486=)
|
rs878853866
|
|
NM_001042492.3(NF1):c.1460G>A (p.Arg487Lys)
|
rs1135402809
|
|
NM_001042492.3(NF1):c.1462del (p.Ser488fs)
|
rs1135402810
|
|
NM_001042492.3(NF1):c.1463G>A (p.Ser488Asn)
|
rs2066786622
|
|
NM_001042492.3(NF1):c.1465T>C (p.Tyr489His)
|
rs2066786672
|
|
NM_001042492.3(NF1):c.1465T>G (p.Tyr489Asp)
|
rs2066786672
|
|
NM_001042492.3(NF1):c.1465_1466insGGAGACAAGAAGAGA (p.Tyr489delinsTrpArgGlnGluGluAsn)
|
|
|
NM_001042492.3(NF1):c.1465dup (p.Tyr489fs)
|
rs2143959602
|
|
NM_001042492.3(NF1):c.1466A>C (p.Tyr489Ser)
|
|
|
NM_001042492.3(NF1):c.1467T>C (p.Tyr489=)
|
rs1567841799
|
|
NM_001042492.3(NF1):c.1467T>G (p.Tyr489Ter)
|
|
|
NM_001042492.3(NF1):c.1467_1468dup (p.Lys490fs)
|
|
|
NM_001042492.3(NF1):c.1467del (p.Ser488_Tyr489insTer)
|
|
|
NM_001042492.3(NF1):c.1467dup (p.Lys490Ter)
|
|
|
NM_001042492.3(NF1):c.1468A>G (p.Lys490Glu)
|
rs1181298067
|
|
NM_001042492.3(NF1):c.1468A>T (p.Lys490Ter)
|
|
|
NM_001042492.3(NF1):c.1469A>G (p.Lys490Arg)
|
rs1060500260
|
|
NM_001042492.3(NF1):c.1469A>T (p.Lys490Met)
|
|
|
NM_001042492.3(NF1):c.1469_1470insTTAT (p.Lys490fs)
|
rs1060500307
|
|
NM_001042492.3(NF1):c.1469_1472del (p.Lys490fs)
|
rs1135402811
|
|
NM_001042492.3(NF1):c.1469del (p.Lys490fs)
|
|
|
NM_001042492.3(NF1):c.146A>T (p.Tyr49Phe)
|
|
|
NM_001042492.3(NF1):c.146del (p.Tyr49fs)
|
|
|
NM_001042492.3(NF1):c.1471T>A (p.Tyr491Asn)
|
rs2143959726
|
|
NM_001042492.3(NF1):c.1473T>A (p.Tyr491Ter)
|
|
|
NM_001042492.3(NF1):c.1477C>G (p.Leu493Val)
|
rs1135402812
|
|
NM_001042492.3(NF1):c.1477_1481del (p.Leu493fs)
|
rs2066787009
|
|
NM_001042492.3(NF1):c.1477_1525dup (p.Cys509fs)
|
rs2143959812
|
|
NM_001042492.3(NF1):c.147C>A (p.Tyr49Ter)
|
|
|
NM_001042492.3(NF1):c.147C>G (p.Tyr49Ter)
|
rs1597626026
|
|
NM_001042492.3(NF1):c.147C>T (p.Tyr49=)
|
rs1597626026
|
|
NM_001042492.3(NF1):c.1480T>A (p.Leu494Met)
|
rs878853867
|
|
NM_001042492.3(NF1):c.1481T>A (p.Leu494Ter)
|
rs2143959905
|
|
NM_001042492.3(NF1):c.1481T>C (p.Leu494Ser)
|
|
|
NM_001042492.3(NF1):c.1481del (p.Leu494fs)
|
|
|
NM_001042492.3(NF1):c.1482G>A (p.Leu494=)
|
|
|
NM_001042492.3(NF1):c.1482G>T (p.Leu494Phe)
|
|
|
NM_001042492.3(NF1):c.1482_1499del (p.Leu494_Ile500delinsPhe)
|
rs2143959924
|
|
NM_001042492.3(NF1):c.1485C>T (p.Ser495=)
|
|
|
NM_001042492.3(NF1):c.1485_1488dup (p.Val497fs)
|
|
|
NM_001042492.3(NF1):c.1486A>T (p.Met496Leu)
|
|
|
NM_001042492.3(NF1):c.1486_1487insC (p.Met496fs)
|
|
|
NM_001042492.3(NF1):c.148A>T (p.Lys50Ter)
|
|
|
NM_001042492.3(NF1):c.1490del (p.Val497fs)
|
rs1555612286
|
|
NM_001042492.3(NF1):c.1491G>A (p.Val497=)
|
|
|
NM_001042492.3(NF1):c.1491G>T (p.Val497=)
|
|
|
NM_001042492.3(NF1):c.1493A>G (p.Lys498Arg)
|
|
|
NM_001042492.3(NF1):c.1494del (p.Lys498fs)
|
rs2143960130
|
|
NM_001042492.3(NF1):c.1495C>T (p.Leu499=)
|
rs764095472
|
|
NM_001042492.3(NF1):c.1495del (p.Lys498_Leu499insTer)
|
|
|
NM_001042492.3(NF1):c.1496T>C (p.Leu499Pro)
|
rs1555612288
|
|
NM_001042492.3(NF1):c.1496T>G (p.Leu499Arg)
|
rs1555612288
|
|
NM_001042492.3(NF1):c.1496_1501del (p.Leu499_Ile500del)
|
|
|
NM_001042492.3(NF1):c.1496dup (p.Ile500fs)
|
|
|
NM_001042492.3(NF1):c.1497A>G (p.Leu499=)
|
|
|
NM_001042492.3(NF1):c.1498_1499del (p.Ile500fs)
|
rs2143960248
|
|
NM_001042492.3(NF1):c.1498dup (p.Ile500fs)
|
|
|
NM_001042492.3(NF1):c.1499T>A (p.Ile500Asn)
|
rs2066787362
|
|
NM_001042492.3(NF1):c.149A>G (p.Lys50Arg)
|
rs1555604907
|
|
NM_001042492.3(NF1):c.1500_1501del (p.His501fs)
|
rs2143960301
|
|
NM_001042492.3(NF1):c.1500dup (p.His501fs)
|
|
|
NM_001042492.3(NF1):c.1502_1503insGGAAATTCA (p.Ile500_His501insGlnGluIle)
|
|
|
NM_001042492.3(NF1):c.1504G>C (p.Ala502Pro)
|
|
|
NM_001042492.3(NF1):c.1506A>C (p.Ala502=)
|
rs1597698488
|
|
NM_001042492.3(NF1):c.1509T>C (p.Asp503=)
|
rs1597698493
|
|
NM_001042492.3(NF1):c.150G>A (p.Lys50=)
|
rs1597626037
|
|
NM_001042492.3(NF1):c.150G>C (p.Lys50Asn)
|
rs1597626037
|
|
NM_001042492.3(NF1):c.1510C>A (p.Pro504Thr)
|
rs1597698495
|
|
NM_001042492.3(NF1):c.1510C>G (p.Pro504Ala)
|
|
|
NM_001042492.3(NF1):c.1510_1524del (p.Pro504_Leu508del)
|
rs2143960475
|
|
NM_001042492.3(NF1):c.1511del (p.Pro504fs)
|
rs2143960519
|
|
NM_001042492.3(NF1):c.1512A>G (p.Pro504=)
|
rs2143960524
|
|
NM_001042492.3(NF1):c.1513A>G (p.Lys505Glu)
|
rs2066787606
|
|
NM_001042492.3(NF1):c.1514del (p.Lys505fs)
|
rs1555612289
|
|
NM_001042492.3(NF1):c.1514dup (p.Leu506fs)
|
rs1555612289
|
|
NM_001042492.3(NF1):c.1517T>G (p.Leu506Arg)
|
|
|
NM_001042492.3(NF1):c.1517dup (p.Leu508fs)
|
|
|
NM_001042492.3(NF1):c.1518C>T (p.Leu506=)
|
rs1597698504
|
|
NM_001042492.3(NF1):c.1518dup (p.Leu508fs)
|
rs2143960631
|
|
NM_001042492.3(NF1):c.1519T>C (p.Leu507=)
|
rs876659815
|
|
NM_001042492.3(NF1):c.1522C>T (p.Leu508Phe)
|
rs1597698512
|
|
NM_001042492.3(NF1):c.1522del (p.Leu508fs)
|
rs1952238027
|
|
NM_001042492.3(NF1):c.1523T>C (p.Leu508Pro)
|
rs137854558
|
|
NM_001042492.3(NF1):c.1524_1525dup (p.Cys509fs)
|
|
|
NM_001042492.3(NF1):c.1525del (p.Cys509fs)
|
rs1135402813
|
|
NM_001042492.3(NF1):c.1525dup (p.Cys509fs)
|
rs1135402813
|
|
NM_001042492.3(NF1):c.1526G>A (p.Cys509Tyr)
|
rs1597698521
|
|
NM_001042492.3(NF1):c.1526_1527+2del
|
rs2143960778
|
|
NM_001042492.3(NF1):c.1527+1159C>G
|
rs878853868
|
|
NM_001042492.3(NF1):c.1527+1159C>T
|
rs878853868
|
|
NM_001042492.3(NF1):c.1527+1187C>G
|
|
|
NM_001042492.3(NF1):c.1527+11T>A
|
|
|
NM_001042492.3(NF1):c.1527+11T>C
|
|
|
NM_001042492.3(NF1):c.1527+14T>A
|
rs1178535900
|
|
NM_001042492.3(NF1):c.1527+14T>C
|
|
|
NM_001042492.3(NF1):c.1527+14del
|
rs772159080
|
|
NM_001042492.3(NF1):c.1527+14dup
|
rs772159080
|
|
NM_001042492.3(NF1):c.1527+1509_1641+1137del
|
|
|
NM_001042492.3(NF1):c.1527+1G>A
|
rs1060500331
|
|
NM_001042492.3(NF1):c.1527+1G>C
|
rs1060500331
|
|
NM_001042492.3(NF1):c.1527+1G>T
|
rs1060500331
|
|
NM_001042492.3(NF1):c.1527+1_1527+2insAG
|
|
|
NM_001042492.3(NF1):c.1527+1del
|
rs2143960866
|
|
NM_001042492.3(NF1):c.1527+20A>C
|
|
|
NM_001042492.3(NF1):c.1527+2T>C
|
rs1064796700
|
|
NM_001042492.3(NF1):c.1527+2T>G
|
rs1064796700
|
|
NM_001042492.3(NF1):c.1527+2_1527+3dup
|
|
|
NM_001042492.3(NF1):c.1527+2dup
|
rs1597698533
|
|
NM_001042492.3(NF1):c.1527+3A>C
|
rs2066788106
|
|
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>C
|
rs1060500352
|
|
NM_001042492.3(NF1):c.1527+5G>T
|
rs1060500352
|
|
NM_001042492.3(NF1):c.1527+660_1527+688del
|
|
|
NM_001042492.3(NF1):c.1527+7A>G
|
rs1555612295
|
|
NM_001042492.3(NF1):c.1527T>C (p.Cys509=)
|
|
|
NM_001042492.3(NF1):c.1528-10T>G
|
rs376174484
|
|
NM_001042492.3(NF1):c.1528-12T>A
|
rs2143985261
|
|
NM_001042492.3(NF1):c.1528-12T>C
|
|
|
NM_001042492.3(NF1):c.1528-14T>G
|
|
|
NM_001042492.3(NF1):c.1528-15T>C
|
rs2143985194
|
|
NM_001042492.3(NF1):c.1528-16C>A
|
|
|
NM_001042492.3(NF1):c.1528-16C>T
|
|
|
NM_001042492.3(NF1):c.1528-17C>A
|
|
|
NM_001042492.3(NF1):c.1528-1G>T
|
rs876660595
|
|
NM_001042492.3(NF1):c.1528-1_1529del
|
|
|
NM_001042492.3(NF1):c.1528-2A>C
|
rs1368005133
|
|
NM_001042492.3(NF1):c.1528-2A>G
|
rs1368005133
|
|
NM_001042492.3(NF1):c.1528-3C>T
|
rs1060500294
|
|
NM_001042492.3(NF1):c.1528-7C>G
|
rs1459198374
|
|
NM_001042492.3(NF1):c.1528-7C>T
|
|
|
NM_001042492.3(NF1):c.1528-7del
|
rs2143985356
|
|
NM_001042492.3(NF1):c.1528-8C>G
|
rs1434245278
|
|
NM_001042492.3(NF1):c.1528-8C>T
|
rs1434245278
|
|
NM_001042492.3(NF1):c.1528-960_1761del
|
|
|
NM_001042492.3(NF1):c.1528-9T>C
|
rs1060503916
|
|
NM_001042492.3(NF1):c.1528-9T>G
|
|
|
NM_001042492.3(NF1):c.1528-9del
|
|
|
NM_001042492.3(NF1):c.1528-9dup
|
rs776722942
|
|
NM_001042492.3(NF1):c.1528A>G (p.Asn510Asp)
|
|
|
NM_001042492.3(NF1):c.1529A>C (p.Asn510Thr)
|
rs876660091
|
|
NM_001042492.3(NF1):c.1529A>G (p.Asn510Ser)
|
rs876660091
|
|
NM_001042492.3(NF1):c.1530T>C (p.Asn510=)
|
rs1275899558
|
|
NM_001042492.3(NF1):c.1530dup (p.Pro511fs)
|
|
|
NM_001042492.3(NF1):c.1536A>G (p.Arg512=)
|
|
|
NM_001042492.3(NF1):c.1539del (p.Lys513fs)
|
|
|
NM_001042492.3(NF1):c.1539dup (p.Gln514fs)
|
|
|
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.1540del (p.Gln514fs)
|
|
|
NM_001042492.3(NF1):c.1541A>G (p.Gln514Arg)
|
rs775369084
|
|
NM_001042492.3(NF1):c.1541del (p.Gln514fs)
|
rs1555612815
|
|
NM_001042492.3(NF1):c.1542G>A (p.Gln514=)
|
|
|
NM_001042492.3(NF1):c.1543G>A (p.Gly515Arg)
|
|
|
NM_001042492.3(NF1):c.1543G>C (p.Gly515Arg)
|
|
|
NM_001042492.3(NF1):c.1544G>A (p.Gly515Glu)
|
rs2143985792
|
|
NM_001042492.3(NF1):c.1545G>C (p.Gly515=)
|
rs876658203
|
|
NM_001042492.3(NF1):c.1545G>T (p.Gly515=)
|
rs876658203
|
|
NM_001042492.3(NF1):c.1545del (p.Glu517fs)
|
|
|
NM_001042492.3(NF1):c.1546C>T (p.Pro516Ser)
|
|
|
NM_001042492.3(NF1):c.1547C>G (p.Pro516Arg)
|
|
|
NM_001042492.3(NF1):c.1547C>T (p.Pro516Leu)
|
|
|
NM_001042492.3(NF1):c.1548C>T (p.Pro516=)
|
rs768883989
|
|
NM_001042492.3(NF1):c.1548del (p.Glu517fs)
|
|
|
NM_001042492.3(NF1):c.1549G>T (p.Glu517Ter)
|
rs587778548
|
|
NM_001042492.3(NF1):c.154dup (p.Ser52fs)
|
|
|
NM_001042492.3(NF1):c.1552del (p.Thr518fs)
|
|
|
NM_001042492.3(NF1):c.1554C>A (p.Thr518=)
|
rs876660849
|
|
NM_001042492.3(NF1):c.1554C>T (p.Thr518=)
|
rs876660849
|
|
NM_001042492.3(NF1):c.1555C>T (p.Gln519Ter)
|
rs2066874419
|
|
NM_001042492.3(NF1):c.1555del (p.Gln519fs)
|
rs2066874267
|
|
NM_001042492.3(NF1):c.1557A>G (p.Gln519=)
|
|
|
NM_001042492.3(NF1):c.1559G>A (p.Gly520Asp)
|
|
|
NM_001042492.3(NF1):c.1560C>T (p.Gly520=)
|
rs112168406
|
|
NM_001042492.3(NF1):c.1561del (p.Ser521fs)
|
rs1135402814
|
|
NM_001042492.3(NF1):c.1562_1563del (p.Ser521fs)
|
rs2143986114
|
|
NM_001042492.3(NF1):c.1563T>C (p.Ser521=)
|
|
|
NM_001042492.3(NF1):c.1564dup (p.Thr522fs)
|
rs2066874810
|
|
NM_001042492.3(NF1):c.1568C>A (p.Ala523Glu)
|
rs2143986218
|
|
NM_001042492.3(NF1):c.1569A>G (p.Ala523=)
|
rs1555612830
|
|
NM_001042492.3(NF1):c.1570G>A (p.Glu524Lys)
|
|
|
NM_001042492.3(NF1):c.1570G>T (p.Glu524Ter)
|
rs1135402815
|
|
NM_001042492.3(NF1):c.1571A>G (p.Glu524Gly)
|
|
|
NM_001042492.3(NF1):c.1574T>A (p.Leu525Ter)
|
|
|
NM_001042492.3(NF1):c.1574T>G (p.Leu525Ter)
|
|
|
NM_001042492.3(NF1):c.1575A>G (p.Leu525=)
|
|
|
NM_001042492.3(NF1):c.1576_1579del (p.Ile526fs)
|
|
|
NM_001042492.3(NF1):c.1578T>A (p.Ile526=)
|
rs1597703458
|
|
NM_001042492.3(NF1):c.1578_1582del (p.Ile526fs)
|
|
|
NM_001042492.3(NF1):c.1579A>T (p.Thr527Ser)
|
rs1567843874
|
|
NM_001042492.3(NF1):c.1579dup (p.Thr527fs)
|
|
|
NM_001042492.3(NF1):c.1581A>C (p.Thr527=)
|
rs1060503907
|
|
NM_001042492.3(NF1):c.1581A>G (p.Thr527=)
|
rs1060503907
|
|
NM_001042492.3(NF1):c.1581_1587dup (p.Val530fs)
|
|
|
NM_001042492.3(NF1):c.1582G>A (p.Gly528Arg)
|
rs2143986428
|
|
NM_001042492.3(NF1):c.1582G>T (p.Gly528Trp)
|
rs2143986428
|
|
NM_001042492.3(NF1):c.1584G>T (p.Gly528=)
|
rs2143986476
|
|
NM_001042492.3(NF1):c.1585C>T (p.Leu529Phe)
|
rs1135402816
|
|
NM_001042492.3(NF1):c.1586T>A (p.Leu529His)
|
|
|
NM_001042492.3(NF1):c.1586T>C (p.Leu529Pro)
|
|
|
NM_001042492.3(NF1):c.1586T>G (p.Leu529Arg)
|
|
|
NM_001042492.3(NF1):c.1587C>G (p.Leu529=)
|
rs786203041
|
|
NM_001042492.3(NF1):c.158T>A (p.Leu53Ter)
|
|
|
NM_001042492.3(NF1):c.1590C>A (p.Val530=)
|
|
|
NM_001042492.3(NF1):c.1590C>T (p.Val530=)
|
rs2143986587
|
|
NM_001042492.3(NF1):c.1591C>T (p.Gln531Ter)
|
rs1057518134
|
|
NM_001042492.3(NF1):c.1593A>C (p.Gln531His)
|
rs773712266
|
|
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.1595T>G (p.Leu532Arg)
|
rs199474737
|
|
NM_001042492.3(NF1):c.1597del (p.Val533fs)
|
rs2143986707
|
|
NM_001042492.3(NF1):c.1598T>A (p.Val533Asp)
|
|
|
NM_001042492.3(NF1):c.1598T>G (p.Val533Gly)
|
rs1555612857
|
|
NM_001042492.3(NF1):c.1599C>T (p.Val533=)
|
rs369458366
|
|
NM_001042492.3(NF1):c.1600C>T (p.Pro534Ser)
|
rs1555612858
|
|
NM_001042492.3(NF1):c.1601C>G (p.Pro534Arg)
|
|
|
NM_001042492.3(NF1):c.1601del (p.Pro534fs)
|
rs2143986751
|
|
NM_001042492.3(NF1):c.1602T>C (p.Pro534=)
|
rs1205604823
|
|
NM_001042492.3(NF1):c.1603C>T (p.Gln535Ter)
|
rs1567843917
|
|
NM_001042492.3(NF1):c.1603del (p.Gln535fs)
|
|
|
NM_001042492.3(NF1):c.1605G>A (p.Gln535=)
|
rs1567843919
|
|
NM_001042492.3(NF1):c.1606_1607del (p.Ser536fs)
|
rs2066876397
|
|
NM_001042492.3(NF1):c.1607C>A (p.Ser536Ter)
|
rs1555612859
|
|
NM_001042492.3(NF1):c.1607C>G (p.Ser536Ter)
|
rs1555612859
|
|
NM_001042492.3(NF1):c.1607C>T (p.Ser536Leu)
|
rs1555612859
|
|
NM_001042492.3(NF1):c.1609C>T (p.His537Tyr)
|
rs786203860
|
|
NM_001042492.3(NF1):c.160G>A (p.Val54Ile)
|
rs1060500330
|
|
NM_001042492.3(NF1):c.160G>T (p.Val54Phe)
|
rs1060500330
|
|
NM_001042492.3(NF1):c.160del (p.Val54fs)
|
rs2143626844
|
|
NM_001042492.3(NF1):c.1611C>T (p.His537=)
|
rs1597703539
|
|
NM_001042492.3(NF1):c.1611_1612del (p.Met538fs)
|
rs2066876556
|
|
NM_001042492.3(NF1):c.1613del (p.Met538fs)
|
rs1135402817
|
|
NM_001042492.3(NF1):c.1613dup (p.Met538fs)
|
|
|
NM_001042492.3(NF1):c.1615C>G (p.Pro539Ala)
|
rs1060500366
|
|
NM_001042492.3(NF1):c.1618G>T (p.Glu540Ter)
|
rs1567843930
|
|
NM_001042492.3(NF1):c.1619del (p.Glu540fs)
|
rs1567843934
|
|
NM_001042492.3(NF1):c.161T>A (p.Val54Asp)
|
|
|
NM_001042492.3(NF1):c.1620G>A (p.Glu540=)
|
rs766748586
|
|
NM_001042492.3(NF1):c.1623T>A (p.Ile541=)
|
rs1597703569
|
|
NM_001042492.3(NF1):c.1624_1625insT (p.Ala542fs)
|
rs2143987192
|
|
NM_001042492.3(NF1):c.1626T>C (p.Ala542=)
|
rs2143987218
|
|
NM_001042492.3(NF1):c.1627C>G (p.Gln543Glu)
|
|
|
NM_001042492.3(NF1):c.1628A>G (p.Gln543Arg)
|
|
|
NM_001042492.3(NF1):c.1629G>C (p.Gln543His)
|
rs2143987265
|
|
NM_001042492.3(NF1):c.162T>C (p.Val54=)
|
rs876660899
|
|
NM_001042492.3(NF1):c.162del (p.Val54_Ile55insTer)
|
rs2065656979
|
|
NM_001042492.3(NF1):c.1630G>A (p.Glu544Lys)
|
|
|
NM_001042492.3(NF1):c.1631A>C (p.Glu544Ala)
|
|
|
NM_001042492.3(NF1):c.1632A>G (p.Glu544=)
|
rs1597703585
|
|
NM_001042492.3(NF1):c.1632del (p.Ala545fs)
|
|
|
NM_001042492.3(NF1):c.1633G>C (p.Ala545Pro)
|
rs1567843945
|
|
NM_001042492.3(NF1):c.1633G>T (p.Ala545Ser)
|
|
|
NM_001042492.3(NF1):c.1633_1634delinsAA (p.Ala545Lys)
|
rs2143987303
|
|
NM_001042492.3(NF1):c.1634C>A (p.Ala545Glu)
|
|
|
NM_001042492.3(NF1):c.1634C>T (p.Ala545Val)
|
|
|
NM_001042492.3(NF1):c.1634del (p.Ala545fs)
|
|
|
NM_001042492.3(NF1):c.1636A>G (p.Met546Val)
|
rs2066877456
|
|
NM_001042492.3(NF1):c.1639G>T (p.Glu547Ter)
|
rs2066877587
|
|
NM_001042492.3(NF1):c.1639dup (p.Glu547fs)
|
rs2066877516
|
|
NM_001042492.3(NF1):c.1640_1641+1del
|
rs2143987443
|
|
NM_001042492.3(NF1):c.1641+11A>C
|
|
|
NM_001042492.3(NF1):c.1641+11A>G
|
|
|
NM_001042492.3(NF1):c.1641+12A>G
|
|
|
NM_001042492.3(NF1):c.1641+19C>T
|
rs2066878542
|
|
NM_001042492.3(NF1):c.1641+1G>A
|
rs1555612866
|
|
NM_001042492.3(NF1):c.1641+1G>C
|
rs1555612866
|
|
NM_001042492.3(NF1):c.1641+1G>T
|
|
|
NM_001042492.3(NF1):c.1641+20C>A
|
|
|
NM_001042492.3(NF1):c.1641+20C>T
|
rs2143987833
|
|
NM_001042492.3(NF1):c.1641+20del
|
|
|
NM_001042492.3(NF1):c.1641+2T>C
|
rs1555612867
|
|
NM_001042492.3(NF1):c.1641+2_1641+3del
|
|
|
NM_001042492.3(NF1):c.1641+2del
|
rs1135402818
|
|
NM_001042492.3(NF1):c.1641+4A>C
|
rs1597703610
|
|
NM_001042492.3(NF1):c.1641+5G>C
|
rs2066878047
|
|
NM_001042492.3(NF1):c.1641+7G>A
|
rs1060503887
|
|
NM_001042492.3(NF1):c.1641+7G>C
|
rs1060503887
|
|
NM_001042492.3(NF1):c.1641+8G>A
|
|
|
NM_001042492.3(NF1):c.1641+8G>C
|
rs758022528
|
|
NM_001042492.3(NF1):c.1641+9A>G
|
|
|
NM_001042492.3(NF1):c.1641G>A (p.Glu547=)
|
|
|
NM_001042492.3(NF1):c.1642-10A>G
|
rs1597706578
|
|
NM_001042492.3(NF1):c.1642-11A>T
|
|
|
NM_001042492.3(NF1):c.1642-12T>C
|
rs2066926774
|
|
NM_001042492.3(NF1):c.1642-12T>G
|
|
|
NM_001042492.3(NF1):c.1642-1359A>T
|
|
|
NM_001042492.3(NF1):c.1642-13_1642-12del
|
|
|
NM_001042492.3(NF1):c.1642-15T>C
|
|
|
NM_001042492.3(NF1):c.1642-15_1642-14insAAA
|
|
|
NM_001042492.3(NF1):c.1642-16T>A
|
|
|
NM_001042492.3(NF1):c.1642-18C>A
|
|
|
NM_001042492.3(NF1):c.1642-18C>G
|
|
|
NM_001042492.3(NF1):c.1642-1G>A
|
rs1555613185
|
|
NM_001042492.3(NF1):c.1642-20C>G
|
rs1446556987
|
|
NM_001042492.3(NF1):c.1642-20C>T
|
|
|
NM_001042492.3(NF1):c.1642-2A>G
|
rs1597706620
|
|
NM_001042492.3(NF1):c.1642-2A>T
|
rs1597706620
|
|
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.1642-4T>C
|
rs786202197
|
|
NM_001042492.3(NF1):c.1642-5T>A
|
|
|
NM_001042492.3(NF1):c.1642-6dup
|
rs2144003412
|
|
NM_001042492.3(NF1):c.1642-7A>G
|
rs1597706592
|
|
NM_001042492.3(NF1):c.1642-8A>G
|
rs267606602
|
|
NM_001042492.3(NF1):c.1642-9A>G
|
rs1597706581
|
|
NM_001042492.3(NF1):c.1642G>C (p.Ala548Pro)
|
|
|
NM_001042492.3(NF1):c.1642G>T (p.Ala548Ser)
|
rs2066927450
|
|
NM_001042492.3(NF1):c.1643C>T (p.Ala548Val)
|
rs1567844997
|
|
NM_001042492.3(NF1):c.1644T>C (p.Ala548=)
|
|
|
NM_001042492.3(NF1):c.1645C>T (p.Leu549=)
|
|
|
NM_001042492.3(NF1):c.1646T>C (p.Leu549Pro)
|
rs199474758
|
|
NM_001042492.3(NF1):c.1646T>G (p.Leu549Arg)
|
|
|
NM_001042492.3(NF1):c.1646del (p.Leu549fs)
|
rs2066927581
|
|
NM_001042492.3(NF1):c.1647G>A (p.Leu549=)
|
rs774627695
|
|
NM_001042492.3(NF1):c.1647G>T (p.Leu549=)
|
rs774627695
|
|
NM_001042492.3(NF1):c.1649T>C (p.Leu550Pro)
|
rs886052798
|
|
NM_001042492.3(NF1):c.164T>A (p.Ile55Lys)
|
rs2065657050
|
|
NM_001042492.3(NF1):c.164dup (p.Ser56fs)
|
|
|
NM_001042492.3(NF1):c.1650G>A (p.Leu550=)
|
rs1555613190
|
|
NM_001042492.3(NF1):c.1650G>C (p.Leu550=)
|
rs1555613190
|
|
NM_001042492.3(NF1):c.1652T>C (p.Val551Ala)
|
rs113867817
|
|
NM_001042492.3(NF1):c.1652T>G (p.Val551Gly)
|
|
|
NM_001042492.3(NF1):c.1652TTC[1] (p.Leu552del)
|
rs2144003808
|
|
NM_001042492.3(NF1):c.1653T>A (p.Val551=)
|
rs1060503902
|
|
NM_001042492.3(NF1):c.1653del (p.Leu552fs)
|
|
|
NM_001042492.3(NF1):c.1653dup (p.Leu552fs)
|
|
|
NM_001042492.3(NF1):c.1654_1663del (p.Val551_Leu552insTer)
|
|
|
NM_001042492.3(NF1):c.1655T>A (p.Leu552His)
|
|
|
NM_001042492.3(NF1):c.1655T>C (p.Leu552Pro)
|
rs1555613193
|
|
NM_001042492.3(NF1):c.1655T>G (p.Leu552Arg)
|
rs1555613193
|
|
NM_001042492.3(NF1):c.1656_1657insA (p.His553fs)
|
rs2144003884
|
|
NM_001042492.3(NF1):c.1657C>G (p.His553Asp)
|
|
|
NM_001042492.3(NF1):c.1657C>T (p.His553Tyr)
|
|
|
NM_001042492.3(NF1):c.1658A>C (p.His553Pro)
|
rs1064794274
|
|
NM_001042492.3(NF1):c.1658A>G (p.His553Arg)
|
rs1064794274
|
|
NM_001042492.3(NF1):c.1659T>C (p.His553=)
|
rs2144003928
|
|
NM_001042492.3(NF1):c.1660C>T (p.Gln554Ter)
|
rs953440640
|
|
NM_001042492.3(NF1):c.1660del (p.Gln554fs)
|
rs2144003956
|
|
NM_001042492.3(NF1):c.1661A>G (p.Gln554Arg)
|
rs863224656
|
|
NM_001042492.3(NF1):c.1661_1662del (p.Gln554fs)
|
rs2144003986
|
|
NM_001042492.3(NF1):c.1663T>G (p.Leu555Val)
|
|
|
NM_001042492.3(NF1):c.1663_1666del (p.Leu555fs)
|
rs2066928095
|
|
NM_001042492.3(NF1):c.1664T>G (p.Leu555Ter)
|
rs2144004029
|
|
NM_001042492.3(NF1):c.1665del (p.Asp556fs)
|
|
|
NM_001042492.3(NF1):c.1665dup (p.Asp556fs)
|
|
|
NM_001042492.3(NF1):c.1667A>G (p.Asp556Gly)
|
rs2144004099
|
|
NM_001042492.3(NF1):c.1667_1670del (p.Asp556fs)
|
rs1135402819
|
|
NM_001042492.3(NF1):c.1668T>C (p.Asp556=)
|
rs1597706678
|
|
NM_001042492.3(NF1):c.1668T>G (p.Asp556Glu)
|
|
|
NM_001042492.3(NF1):c.1669A>G (p.Ser557Gly)
|
|
|
NM_001042492.3(NF1):c.166A>G (p.Ser56Gly)
|
rs751891720
|
|
NM_001042492.3(NF1):c.1670G>A (p.Ser557Asn)
|
rs1567845046
|
|
NM_001042492.3(NF1):c.1671C>T (p.Ser557=)
|
rs1440915203
|
|
NM_001042492.3(NF1):c.1671_1683del (p.Ser557fs)
|
rs2144004136
|
|
NM_001042492.3(NF1):c.1671del (p.Ser557fs)
|
rs2066928367
|
|
NM_001042492.3(NF1):c.1672A>G (p.Ile558Val)
|
rs2066928417
|
|
NM_001042492.3(NF1):c.1673T>C (p.Ile558Thr)
|
rs2144004218
|
|
NM_001042492.3(NF1):c.1674T>C (p.Ile558=)
|
rs2144004226
|
|
NM_001042492.3(NF1):c.1675G>A (p.Asp559Asn)
|
rs2144004244
|
|
NM_001042492.3(NF1):c.1675G>T (p.Asp559Tyr)
|
|
|
NM_001042492.3(NF1):c.1677T>A (p.Asp559Glu)
|
rs1209447028
|
|
NM_001042492.3(NF1):c.1677T>C (p.Asp559=)
|
rs1209447028
|
|
NM_001042492.3(NF1):c.1677T>G (p.Asp559Glu)
|
|
|
NM_001042492.3(NF1):c.1679T>A (p.Leu560Ter)
|
|
|
NM_001042492.3(NF1):c.1679del (p.Leu560fs)
|
|
|
NM_001042492.3(NF1):c.1679dup (p.Leu560fs)
|
|
|
NM_001042492.3(NF1):c.1680del (p.Leu560fs)
|
rs1567845069
|
|
NM_001042492.3(NF1):c.1682G>A (p.Trp561Ter)
|
rs2144004331
|
|
NM_001042492.3(NF1):c.1683G>A (p.Trp561Ter)
|
rs1135402820
|
|
NM_001042492.3(NF1):c.1687C>T (p.Pro563Ser)
|
rs2066928705
|
|
NM_001042492.3(NF1):c.1689T>C (p.Pro563=)
|
rs1445925500
|
|
NM_001042492.3(NF1):c.1690G>A (p.Asp564Asn)
|
rs2144004484
|
|
NM_001042492.3(NF1):c.1690G>T (p.Asp564Tyr)
|
rs2144004484
|
|
NM_001042492.3(NF1):c.1691_1692del (p.Asp564fs)
|
rs2066928784
|
|
NM_001042492.3(NF1):c.1691_1692insC (p.Ala565fs)
|
rs2144004523
|
|
NM_001042492.3(NF1):c.1692T>G (p.Asp564Glu)
|
rs1597706718
|
|
NM_001042492.3(NF1):c.1693G>A (p.Ala565Thr)
|
|
|
NM_001042492.3(NF1):c.1693dup (p.Ala565fs)
|
|
|
NM_001042492.3(NF1):c.1695T>C (p.Ala565=)
|
|
|
NM_001042492.3(NF1):c.1696C>G (p.Pro566Ala)
|
rs2066928875
|
|
NM_001042492.3(NF1):c.1697C>T (p.Pro566Leu)
|
|
|
NM_001042492.3(NF1):c.1698T>C (p.Pro566=)
|
rs2144004618
|
|
NM_001042492.3(NF1):c.1699G>A (p.Val567Ile)
|
rs1555613200
|
|
NM_001042492.3(NF1):c.169G>T (p.Gly57Cys)
|
rs779727341
|
|
NM_001042492.3(NF1):c.1700T>C (p.Val567Ala)
|
rs2144004648
|
|
NM_001042492.3(NF1):c.1702_1703dup (p.Thr569fs)
|
rs2144004677
|
|
NM_001042492.3(NF1):c.1703A>G (p.Glu568Gly)
|
rs1597706730
|
|
NM_001042492.3(NF1):c.1705A>G (p.Thr569Ala)
|
|
|
NM_001042492.3(NF1):c.1707A>C (p.Thr569=)
|
|
|
NM_001042492.3(NF1):c.1707A>G (p.Thr569=)
|
rs1060503898
|
|
NM_001042492.3(NF1):c.1707del (p.Trp571fs)
|
rs2144004751
|
|
NM_001042492.3(NF1):c.170G>A (p.Gly57Asp)
|
rs1555604925
|
|
NM_001042492.3(NF1):c.170G>T (p.Gly57Val)
|
|
|
NM_001042492.3(NF1):c.1710T>C (p.Phe570=)
|
rs1462741584
|
|
NM_001042492.3(NF1):c.1711T>A (p.Trp571Arg)
|
rs2144004785
|
|
NM_001042492.3(NF1):c.1711del (p.Trp571fs)
|
rs1597706737
|
|
NM_001042492.3(NF1):c.1712G>A (p.Trp571Ter)
|
rs761199437
|
|
NM_001042492.3(NF1):c.1713G>A (p.Trp571Ter)
|
rs863224489
|
|
NM_001042492.3(NF1):c.1714G>T (p.Glu572Ter)
|
|
|
NM_001042492.3(NF1):c.1714_1721+5del
|
rs1135402821
|
|
NM_001042492.3(NF1):c.1714del (p.Glu572fs)
|
rs876660135
|
|
NM_001042492.3(NF1):c.1714dup (p.Glu572fs)
|
rs876660135
|
|
NM_001042492.3(NF1):c.1716G>T (p.Glu572Asp)
|
rs2066929357
|
|
NM_001042492.3(NF1):c.1717A>C (p.Ile573Leu)
|
rs1597706766
|
|
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.1719del (p.Ser574fs)
|
|
|
NM_001042492.3(NF1):c.171C>A (p.Gly57=)
|
rs876658709
|
|
NM_001042492.3(NF1):c.1720A>C (p.Ser574Arg)
|
rs2066929440
|
|
NM_001042492.3(NF1):c.1720A>G (p.Ser574Gly)
|
|
|
NM_001042492.3(NF1):c.1721+12T>A
|
|
|
NM_001042492.3(NF1):c.1721+12T>G
|
|
|
NM_001042492.3(NF1):c.1721+13T>C
|
|
|
NM_001042492.3(NF1):c.1721+15A>G
|
|
|
NM_001042492.3(NF1):c.1721+16T>A
|
|
|
NM_001042492.3(NF1):c.1721+17T>A
|
|
|
NM_001042492.3(NF1):c.1721+19_1721+21del
|
rs762735676
|
|
NM_001042492.3(NF1):c.1721+1G>C
|
rs1131691096
|
|
NM_001042492.3(NF1):c.1721+1G>T
|
rs1131691096
|
|
NM_001042492.3(NF1):c.1721+21del
|
|
|
NM_001042492.3(NF1):c.1721+21dup
|
rs762735676
|
|
NM_001042492.3(NF1):c.1721+2T>A
|
rs1567845116
|
|
NM_001042492.3(NF1):c.1721+2T>C
|
|
|
NM_001042492.3(NF1):c.1721+2T>G
|
rs1567845116
|
|
NM_001042492.3(NF1):c.1721+3A>C
|
rs1057518904
|
|
NM_001042492.3(NF1):c.1721+3A>G
|
rs1057518904
|
|
NM_001042492.3(NF1):c.1721+4T>A
|
rs766836356
|
|
NM_001042492.3(NF1):c.1721+542A>G
|
rs2066942173
|
|
NM_001042492.3(NF1):c.1721+5A>G
|
rs876658961
|
|
NM_001042492.3(NF1):c.1721+61_1721+63del
|
|
|
NM_001042492.3(NF1):c.1721+6T>C
|
rs2144005065
|
|
NM_001042492.3(NF1):c.1721+7G>A
|
rs2144005086
|
|
NM_001042492.3(NF1):c.1721+8T>G
|
rs2144005104
|
|
NM_001042492.3(NF1):c.1721+9A>G
|
|
|
NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn)
|
rs1555613206
|
|
NM_001042492.3(NF1):c.1721G>C (p.Ser574Thr)
|
|
|
NM_001042492.3(NF1):c.1721G>T (p.Ser574Ile)
|
rs1555613206
|
|
NM_001042492.3(NF1):c.1721_1721+37dup
|
|
|
NM_001042492.3(NF1):c.1722-10G>A
|
rs2144015327
|
|
NM_001042492.3(NF1):c.1722-11T>A
|
rs2066961306
|
|
NM_001042492.3(NF1):c.1722-11T>G
|
rs2066961306
|
|
NM_001042492.3(NF1):c.1722-12_1722-11del
|
rs2144015258
|
|
NM_001042492.3(NF1):c.1722-13T>C
|
rs1954017367
|
|
NM_001042492.3(NF1):c.1722-13dup
|
|
|
NM_001042492.3(NF1):c.1722-14_1722-5del
|
rs2144015153
|
|
NM_001042492.3(NF1):c.1722-16C>G
|
|
|
NM_001042492.3(NF1):c.1722-16C>T
|
rs759896772
|
|
NM_001042492.3(NF1):c.1722-17A>G
|
|
|
NM_001042492.3(NF1):c.1722-19G>A
|
|
|
NM_001042492.3(NF1):c.1722-19G>T
|
|
|
NM_001042492.3(NF1):c.1722-1G>A
|
rs1567845818
|
|
NM_001042492.3(NF1):c.1722-1G>C
|
|
|
NM_001042492.3(NF1):c.1722-1G>T
|
|
|
NM_001042492.3(NF1):c.1722-20_1722-17del
|
rs1597708558
|
|
NM_001042492.3(NF1):c.1722-26T>C
|
rs1597708542
|
|
NM_001042492.3(NF1):c.1722-2A>C
|
rs763983337
|
|
NM_001042492.3(NF1):c.1722-2A>G
|
rs763983337
|
|
NM_001042492.3(NF1):c.1722-2A>T
|
rs763983337
|
|
NM_001042492.3(NF1):c.1722-2del
|
|
|
NM_001042492.3(NF1):c.1722-3C>A
|
rs770211384
|
|
NM_001042492.3(NF1):c.1722-3C>G
|
|
|
NM_001042492.3(NF1):c.1722-3C>T
|
|
|
NM_001042492.3(NF1):c.1722-5_1765dup
|
|
|
NM_001042492.3(NF1):c.1722-6C>G
|
rs878853869
|
|
NM_001042492.3(NF1):c.1722-6C>T
|
rs878853869
|
|
NM_001042492.3(NF1):c.1722-7A>G
|
|
|
NM_001042492.3(NF1):c.1722-8T>G
|
|
|
NM_001042492.3(NF1):c.1722-8_1722-3delinsAAAA
|
rs1597708581
|
|
NM_001042492.3(NF1):c.1722-9T>G
|
rs1567845805
|
|
NM_001042492.3(NF1):c.1722C>G (p.Ser574Arg)
|
rs2144015494
|
|
NM_001042492.3(NF1):c.1724C>G (p.Ser575Ter)
|
rs915463951
|
|
NM_001042492.3(NF1):c.1726C>T (p.Gln576Ter)
|
rs1060500278
|
|
NM_001042492.3(NF1):c.1726_1727insTTTT (p.Gln576fs)
|
rs2144015567
|
|
NM_001042492.3(NF1):c.1727A>G (p.Gln576Arg)
|
|
|
NM_001042492.3(NF1):c.1728A>G (p.Gln576=)
|
rs1057523206
|
|
NM_001042492.3(NF1):c.1728_1729del (p.Gln576fs)
|
rs2066961890
|
|
NM_001042492.3(NF1):c.1729_1734del (p.Met577_Leu578del)
|
|
|
NM_001042492.3(NF1):c.1729del (p.Met577fs)
|
|
|
NM_001042492.3(NF1):c.172C>T (p.Leu58Phe)
|
rs2065657352
|
|
NM_001042492.3(NF1):c.172del (p.Leu58fs)
|
rs2143627085
|
|
NM_001042492.3(NF1):c.1730T>G (p.Met577Arg)
|
|
|
NM_001042492.3(NF1):c.1731G>A (p.Met577Ile)
|
|
|
NM_001042492.3(NF1):c.1732_1737del (p.Leu578_Phe579del)
|
|
|
NM_001042492.3(NF1):c.1733T>C (p.Leu578Pro)
|
rs199474774
|
|
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.1735T>C (p.Phe579Leu)
|
rs2066962078
|
|
NM_001042492.3(NF1):c.1738_1739insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTACAAATGCTTTTTT (p.Tyr580fs)
|
|
|
NM_001042492.3(NF1):c.1738del (p.Tyr580fs)
|
rs786204255
|
|
NM_001042492.3(NF1):c.1738dup (p.Tyr580fs)
|
rs786204255
|
|
NM_001042492.3(NF1):c.173T>C (p.Leu58Pro)
|
rs1597626094
|
|
NM_001042492.3(NF1):c.173T>G (p.Leu58Arg)
|
rs1597626094
|
|
NM_001042492.3(NF1):c.1740C>A (p.Tyr580Ter)
|
|
|
NM_001042492.3(NF1):c.1740C>G (p.Tyr580Ter)
|
rs786202554
|
|
NM_001042492.3(NF1):c.1741A>C (p.Ile581Leu)
|
|
|
NM_001042492.3(NF1):c.1741A>G (p.Ile581Val)
|
rs2066962216
|
|
NM_001042492.3(NF1):c.1742T>G (p.Ile581Ser)
|
|
|
NM_001042492.3(NF1):c.1742del (p.Ile581fs)
|
rs2144015861
|
|
NM_001042492.3(NF1):c.1743C>G (p.Ile581Met)
|
|
|
NM_001042492.3(NF1):c.1744T>C (p.Cys582Arg)
|
rs1597708661
|
|
NM_001042492.3(NF1):c.1744T>G (p.Cys582Gly)
|
rs1597708661
|
|
NM_001042492.3(NF1):c.1745G>C (p.Cys582Ser)
|
rs2066962321
|
|
NM_001042492.3(NF1):c.1745G>T (p.Cys582Phe)
|
rs2066962321
|
|
NM_001042492.3(NF1):c.1746C>A (p.Cys582Ter)
|
rs2066962353
|
|
NM_001042492.3(NF1):c.1746C>G (p.Cys582Trp)
|
rs2066962353
|
|
NM_001042492.3(NF1):c.1747A>G (p.Lys583Glu)
|
|
|
NM_001042492.3(NF1):c.1747A>T (p.Lys583Ter)
|
rs2144015942
|
|
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg)
|
rs199474760
|
|
NM_001042492.3(NF1):c.1748del (p.Lys583fs)
|
rs2144015956
|
|
NM_001042492.3(NF1):c.1749G>A (p.Lys583=)
|
rs1597708670
|
|
NM_001042492.3(NF1):c.174C>T (p.Leu58=)
|
rs2065657421
|
|
NM_001042492.3(NF1):c.1751A>T (p.Lys584Ile)
|
rs1567845855
|
|
NM_001042492.3(NF1):c.1752A>G (p.Lys584=)
|
|
|
NM_001042492.3(NF1):c.1752_1759del (p.Leu585fs)
|
|
|
NM_001042492.3(NF1):c.1753_1759del (p.Leu585fs)
|
rs2066962518
|
|
NM_001042492.3(NF1):c.1754T>G (p.Leu585Ter)
|
rs775670722
|
|
NM_001042492.3(NF1):c.1754_1782del (p.Lys584_Leu585insTer)
|
|
|
NM_001042492.3(NF1):c.1754dup (p.Leu585fs)
|
|
|
NM_001042492.3(NF1):c.1755A>C (p.Leu585Phe)
|
|
|
NM_001042492.3(NF1):c.1755A>G (p.Leu585=)
|
rs1597708685
|
|
NM_001042492.3(NF1):c.1756A>G (p.Thr586Ala)
|
rs876659242
|
|
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)
|
rs786202782
|
|
NM_001042492.3(NF1):c.1756del (p.Thr586fs)
|
rs2144016093
|
|
NM_001042492.3(NF1):c.1757del (p.Thr586fs)
|
|
|
NM_001042492.3(NF1):c.1758del (p.Ser587fs)
|
|
|
NM_001042492.3(NF1):c.1759A>C (p.Ser587Arg)
|
rs1597708695
|
|
NM_001042492.3(NF1):c.1759A>G (p.Ser587Gly)
|
rs1597708695
|
|
NM_001042492.3(NF1):c.1759_1760insTAGTT (p.Ser587fs)
|
rs2066962730
|
|
NM_001042492.3(NF1):c.175A>C (p.Thr59Pro)
|
|
|
NM_001042492.3(NF1):c.175A>G (p.Thr59Ala)
|
rs1567814586
|
|
NM_001042492.3(NF1):c.175A>T (p.Thr59Ser)
|
rs1567814586
|
|
NM_001042492.3(NF1):c.1761T>C (p.Ser587=)
|
|
|
NM_001042492.3(NF1):c.1761del (p.His588fs)
|
|
|
NM_001042492.3(NF1):c.1762C>A (p.His588Asn)
|
rs2066962798
|
|
NM_001042492.3(NF1):c.1762C>T (p.His588Tyr)
|
|
|
NM_001042492.3(NF1):c.1764T>C (p.His588=)
|
rs1229784876
|
|
NM_001042492.3(NF1):c.1765C>A (p.Gln589Lys)
|
rs1282299543
|
|
NM_001042492.3(NF1):c.1765C>T (p.Gln589Ter)
|
rs1282299543
|
|
NM_001042492.3(NF1):c.1767A>C (p.Gln589His)
|
|
|
NM_001042492.3(NF1):c.1767A>G (p.Gln589=)
|
rs2144016279
|
|
NM_001042492.3(NF1):c.1767A>T (p.Gln589His)
|
|
|
NM_001042492.3(NF1):c.1768del (p.Met590fs)
|
|
|
NM_001042492.3(NF1):c.176CTA[1] (p.Thr60del)
|
rs2143627187
|
|
NM_001042492.3(NF1):c.1770G>C (p.Met590Ile)
|
rs2144016315
|
|
NM_001042492.3(NF1):c.1771C>G (p.Leu591Val)
|
rs767247726
|
|
NM_001042492.3(NF1):c.1774dup (p.Ser592fs)
|
|
|
NM_001042492.3(NF1):c.1775G>A (p.Ser592Asn)
|
rs760256377
|
|
NM_001042492.3(NF1):c.1777_1778insATAA (p.Ser593fs)
|
rs2144016379
|
|
NM_001042492.3(NF1):c.1778G>A (p.Ser593Asn)
|
rs2066963100
|
|
NM_001042492.3(NF1):c.1779del (p.Ser593fs)
|
|
|
NM_001042492.3(NF1):c.1780A>G (p.Thr594Ala)
|
rs1555613419
|
|
NM_001042492.3(NF1):c.1782A>T (p.Thr594=)
|
|
|
NM_001042492.3(NF1):c.1783G>T (p.Glu595Ter)
|
rs1597708728
|
|
NM_001042492.3(NF1):c.1783_1784del (p.Glu595fs)
|
rs786204059
|
|
NM_001042492.3(NF1):c.1786del (p.Ile596fs)
|
|
|
NM_001042492.3(NF1):c.1788T>G (p.Ile596Met)
|
rs2066963288
|
|
NM_001042492.3(NF1):c.1789C>T (p.Leu597Phe)
|
rs2066963329
|
|
NM_001042492.3(NF1):c.1791C>G (p.Leu597=)
|
rs1597708736
|
|
NM_001042492.3(NF1):c.1791C>T (p.Leu597=)
|
|
|
NM_001042492.3(NF1):c.1792A>T (p.Lys598Ter)
|
rs2144016542
|
|
NM_001042492.3(NF1):c.1793A>C (p.Lys598Thr)
|
rs2066963397
|
|
NM_001042492.3(NF1):c.1793A>G (p.Lys598Arg)
|
rs2066963397
|
|
NM_001042492.3(NF1):c.1795T>C (p.Trp599Arg)
|
|
|
NM_001042492.3(NF1):c.1795T>G (p.Trp599Gly)
|
|
|
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.179_180dup (p.Ile61fs)
|
|
|
NM_001042492.3(NF1):c.1800G>A (p.Leu600=)
|
|
|
NM_001042492.3(NF1):c.1801C>A (p.Arg601=)
|
rs587782592
|
|
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.1802G>C (p.Arg601Pro)
|
|
|
NM_001042492.3(NF1):c.1804G>C (p.Glu602Gln)
|
rs1060500322
|
|
NM_001042492.3(NF1):c.1804dup (p.Glu602fs)
|
rs1597708762
|
|
NM_001042492.3(NF1):c.1805A>T (p.Glu602Val)
|
rs1597708772
|
|
NM_001042492.3(NF1):c.1806A>T (p.Glu602Asp)
|
rs370454753
|
|
NM_001042492.3(NF1):c.1807_1811del (p.Ile603fs)
|
rs2144016788
|
|
NM_001042492.3(NF1):c.1808T>A (p.Ile603Lys)
|
rs2144016800
|
|
NM_001042492.3(NF1):c.1808T>C (p.Ile603Thr)
|
|
|
NM_001042492.3(NF1):c.1809_1810del (p.Leu604fs)
|
rs2144016775
|
|
NM_001042492.3(NF1):c.180T>C (p.Thr60=)
|
rs1597626116
|
|
NM_001042492.3(NF1):c.180T>G (p.Thr60=)
|
|
|
NM_001042492.3(NF1):c.1811T>A (p.Leu604Ter)
|
rs1555613427
|
|
NM_001042492.3(NF1):c.1812G>A (p.Leu604=)
|
rs2066963883
|
|
NM_001042492.3(NF1):c.1812G>T (p.Leu604Phe)
|
rs2066963883
|
|
NM_001042492.3(NF1):c.1813A>G (p.Ile605Val)
|
rs2144016888
|
|
NM_001042492.3(NF1):c.1815del (p.Cys606fs)
|
rs1567845935
|
|
NM_001042492.3(NF1):c.1817G>T (p.Cys606Phe)
|
|
|
NM_001042492.3(NF1):c.1818C>A (p.Cys606Ter)
|
rs1567845937
|
|
NM_001042492.3(NF1):c.1818C>T (p.Cys606=)
|
rs1567845937
|
|
NM_001042492.3(NF1):c.1819A>G (p.Arg607Gly)
|
|
|
NM_001042492.3(NF1):c.181dup (p.Ile61fs)
|
rs1555604935
|
|
NM_001042492.3(NF1):c.1824T>C (p.Asn608=)
|
|
|
NM_001042492.3(NF1):c.1825A>C (p.Lys609Gln)
|
|
|
NM_001042492.3(NF1):c.1826A>G (p.Lys609Arg)
|
rs1597708810
|
|
NM_001042492.3(NF1):c.1829T>A (p.Phe610Tyr)
|
rs2144017133
|
|
NM_001042492.3(NF1):c.1830_1833del (p.Leu612fs)
|
rs2066964073
|
|
NM_001042492.3(NF1):c.1831C>T (p.Leu611Phe)
|
|
|
NM_001042492.3(NF1):c.1831CTT[1] (p.Leu612del)
|
rs2066964109
|
|
NM_001042492.3(NF1):c.1833T>A (p.Leu611=)
|
|
|
NM_001042492.3(NF1):c.1833del (p.Asn614fs)
|
|
|
NM_001042492.3(NF1):c.1835_1836insAAAAATAAGGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA (p.Asn614fs)
|
rs2144017227
|
|
NM_001042492.3(NF1):c.1836_1837insSVAelement
|
rs2066964219
|
|
NM_001042492.3(NF1):c.1837A>G (p.Lys613Glu)
|
|
|
NM_001042492.3(NF1):c.1839_1844del (p.Asn614_Lys615del)
|
rs1597708816
|
|
NM_001042492.3(NF1):c.1841A>G (p.Asn614Ser)
|
|
|
NM_001042492.3(NF1):c.1842T>C (p.Asn614=)
|
|
|
NM_001042492.3(NF1):c.1845+11T>C
|
|
|
NM_001042492.3(NF1):c.1845+12G>A
|
rs2144017551
|
|
NM_001042492.3(NF1):c.1845+12G>T
|
rs2144017551
|
|
NM_001042492.3(NF1):c.1845+15A>G
|
rs2144017600
|
|
NM_001042492.3(NF1):c.1845+15A>T
|
|
|
NM_001042492.3(NF1):c.1845+17_1845+18del
|
rs765979407
|
|
NM_001042492.3(NF1):c.1845+18T>A
|
|
|
NM_001042492.3(NF1):c.1845+18T>C
|
rs62070681
|
|
NM_001042492.3(NF1):c.1845+1G>A
|
rs1567845945
|
|
NM_001042492.3(NF1):c.1845+1G>T
|
|
|
NM_001042492.3(NF1):c.1845+1_1845+5del
|
rs1135402822
|
|
NM_001042492.3(NF1):c.1845+2T>A
|
rs1555613430
|
|
NM_001042492.3(NF1):c.1845+2T>C
|
rs1555613430
|
|
NM_001042492.3(NF1):c.1845+2T>G
|
|
|
NM_001042492.3(NF1):c.1845+2_1845+3insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATAAGGT
|
|
|
NM_001042492.3(NF1):c.1845+2_1845+3insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATAAGGT
|
|
|
NM_001042492.3(NF1):c.1845+2del
|
|
|
NM_001042492.3(NF1):c.1845+3A>C
|
rs2066964401
|
|
NM_001042492.3(NF1):c.1845+3A>T
|
|
|
NM_001042492.3(NF1):c.1845+3_1845+4insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAGGTA
|
|
|
NM_001042492.3(NF1):c.1845+9A>G
|
rs2144017504
|
|
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.1846-10T>G
|
rs1597710285
|
|
NM_001042492.3(NF1):c.1846-12A>G
|
|
|
NM_001042492.3(NF1):c.1846-13T>A
|
|
|
NM_001042492.3(NF1):c.1846-13dup
|
rs757751570
|
|
NM_001042492.3(NF1):c.1846-14T>G
|
|
|
NM_001042492.3(NF1):c.1846-15T>C
|
|
|
NM_001042492.3(NF1):c.1846-18T>A
|
|
|
NM_001042492.3(NF1):c.1846-19T>C
|
|
|
NM_001042492.3(NF1):c.1846-1G>T
|
rs1264981771
|
|
NM_001042492.3(NF1):c.1846-20A>G
|
rs2144025337
|
|
NM_001042492.3(NF1):c.1846-22TTAT[2]
|
rs754412829
|
|
NM_001042492.3(NF1):c.1846-2A>G
|
rs1567846609
|
|
NM_001042492.3(NF1):c.1846-3T>A
|
rs1555613541
|
|
NM_001042492.3(NF1):c.1846-3T>C
|
rs1555613541
|
|
NM_001042492.3(NF1):c.1846-496_2410-645delinsTAGC
|
|
|
NM_001042492.3(NF1):c.1846-4C>T
|
|
|
NM_001042492.3(NF1):c.1846-5T>C
|
rs1567846600
|
|
NM_001042492.3(NF1):c.1846-5dup
|
rs779012139
|
|
NM_001042492.3(NF1):c.1846-8T>A
|
rs886052799
|
|
NM_001042492.3(NF1):c.1846-8_1846-5del
|
|
|
NM_001042492.3(NF1):c.1846C>G (p.Gln616Glu)
|
rs1555613543
|
|
NM_001042492.3(NF1):c.1846C>T (p.Gln616Ter)
|
rs1555613543
|
|
NM_001042492.3(NF1):c.1849_1850delinsTA (p.Ala617Ter)
|
rs2066989409
|
|
NM_001042492.3(NF1):c.1850C>A (p.Ala617Glu)
|
rs1461412558
|
|
NM_001042492.3(NF1):c.1852G>A (p.Asp618Asn)
|
|
|
NM_001042492.3(NF1):c.1853A>G (p.Asp618Gly)
|
|
|
NM_001042492.3(NF1):c.1854T>G (p.Asp618Glu)
|
rs1184750227
|
|
NM_001042492.3(NF1):c.1854_1857del (p.Asp618fs)
|
rs2066989481
|
|
NM_001042492.3(NF1):c.1854del (p.Asp618fs)
|
rs1597710342
|
|
NM_001042492.3(NF1):c.1855A>G (p.Arg619Gly)
|
rs587781821
|
|
NM_001042492.3(NF1):c.1857_1863del (p.Arg619fs)
|
rs1567846634
|
|
NM_001042492.3(NF1):c.1859_1861del (p.Ser620_Ser621delinsThr)
|
rs2066989737
|
|
NM_001042492.3(NF1):c.185del (p.Ile61_Leu62insTer)
|
rs2065657742
|
|
NM_001042492.3(NF1):c.1861del (p.Ser621fs)
|
rs1597710358
|
|
NM_001042492.3(NF1):c.1862C>T (p.Ser621Phe)
|
rs760346063
|
|
NM_001042492.3(NF1):c.1865G>A (p.Cys622Tyr)
|
rs535869486
|
|
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.1867C>T (p.His623Tyr)
|
rs759555122
|
|
NM_001042492.3(NF1):c.1868A>G (p.His623Arg)
|
rs1555613555
|
|
NM_001042492.3(NF1):c.1868del (p.His623fs)
|
rs2066990036
|
|
NM_001042492.3(NF1):c.1869C>A (p.His623Gln)
|
|
|
NM_001042492.3(NF1):c.1869C>G (p.His623Gln)
|
rs1555613556
|
|
NM_001042492.3(NF1):c.1869C>T (p.His623=)
|
rs1555613556
|
|
NM_001042492.3(NF1):c.1871T>C (p.Phe624Ser)
|
rs1597710397
|
|
NM_001042492.3(NF1):c.1872del (p.Leu625fs)
|
|
|
NM_001042492.3(NF1):c.1872dup (p.Leu625fs)
|
rs2144026030
|
|
NM_001042492.3(NF1):c.1873C>A (p.Leu625Ile)
|
rs2066990176
|
|
NM_001042492.3(NF1):c.1874_1875del (p.Leu625fs)
|
rs2144026061
|
|
NM_001042492.3(NF1):c.1876del (p.Leu626fs)
|
rs1597710409
|
|
NM_001042492.3(NF1):c.1877T>C (p.Leu626Pro)
|
rs752591958
|
|
NM_001042492.3(NF1):c.1879T>A (p.Phe627Ile)
|
rs2066990341
|
|
NM_001042492.3(NF1):c.1879_1894del (p.Phe627fs)
|
|
|
NM_001042492.3(NF1):c.187_188del (p.Lys63fs)
|
|
|
NM_001042492.3(NF1):c.1882del (p.Tyr628fs)
|
|
|
NM_001042492.3(NF1):c.1882dup (p.Tyr628fs)
|
rs1555613558
|
|
NM_001042492.3(NF1):c.1883_1885delinsCC (p.Tyr628fs)
|
rs1135402823
|
|
NM_001042492.3(NF1):c.1883del (p.Tyr628fs)
|
|
|
NM_001042492.3(NF1):c.1884C>A (p.Tyr628Ter)
|
rs555635097
|
|
NM_001042492.3(NF1):c.1884del (p.Phe627_Tyr628insTer)
|
rs2066990429
|
|
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)
|
rs199474738
|
|
NM_001042492.3(NF1):c.1885G>C (p.Gly629Arg)
|
rs199474738
|
|
NM_001042492.3(NF1):c.1886G>C (p.Gly629Ala)
|
|
|
NM_001042492.3(NF1):c.1886G>T (p.Gly629Val)
|
rs1597710440
|
|
NM_001042492.3(NF1):c.1887G>A (p.Gly629=)
|
rs1555613561
|
|
NM_001042492.3(NF1):c.1888G>A (p.Val630Ile)
|
rs751795238
|
|
NM_001042492.3(NF1):c.1888G>T (p.Val630Leu)
|
rs751795238
|
|
NM_001042492.3(NF1):c.1888del (p.Gly629_Val630insTer)
|
rs1567846670
|
|
NM_001042492.3(NF1):c.1888dup (p.Val630fs)
|
rs1567846670
|
|
NM_001042492.3(NF1):c.1889T>A (p.Val630Glu)
|
rs1135402824
|
|
NM_001042492.3(NF1):c.188del (p.Lys63fs)
|
rs1555604939
|
|
NM_001042492.3(NF1):c.1890A>G (p.Val630=)
|
rs2144026306
|
|
NM_001042492.3(NF1):c.1890del (p.Gly631fs)
|
|
|
NM_001042492.3(NF1):c.1892G>A (p.Gly631Glu)
|
rs876660272
|
|
NM_001042492.3(NF1):c.1892G>C (p.Gly631Ala)
|
rs876660272
|
|
NM_001042492.3(NF1):c.1892G>T (p.Gly631Val)
|
rs876660272
|
|
NM_001042492.3(NF1):c.1893A>C (p.Gly631=)
|
rs1597710471
|
|
NM_001042492.3(NF1):c.1893A>T (p.Gly631=)
|
rs1597710471
|
|
NM_001042492.3(NF1):c.1895G>A (p.Cys632Tyr)
|
rs1567846698
|
|
NM_001042492.3(NF1):c.1895del (p.Cys632fs)
|
rs1597710497
|
|
NM_001042492.3(NF1):c.1895dup (p.Cys632fs)
|
rs2066990906
|
|
NM_001042492.3(NF1):c.1896_1912del (p.Cys632fs)
|
rs2066990838
|
|
NM_001042492.3(NF1):c.1896dup (p.Asp633Ter)
|
rs2066990975
|
|
NM_001042492.3(NF1):c.1898A>C (p.Asp633Ala)
|
|
|
NM_001042492.3(NF1):c.189G>C (p.Lys63Asn)
|
rs2143627434
|
|
NM_001042492.3(NF1):c.189G>T (p.Lys63Asn)
|
|
|
NM_001042492.3(NF1):c.1900dup (p.Ile634fs)
|
|
|
NM_001042492.3(NF1):c.1902T>A (p.Ile634=)
|
rs1555613566
|
|
NM_001042492.3(NF1):c.1903C>T (p.Pro635Ser)
|
|
|
NM_001042492.3(NF1):c.1905T>C (p.Pro635=)
|
|
|
NM_001042492.3(NF1):c.1906T>C (p.Ser636Pro)
|
rs2066991161
|
|
NM_001042492.3(NF1):c.1907C>A (p.Ser636Tyr)
|
rs780412565
|
|
NM_001042492.3(NF1):c.1907C>T (p.Ser636Phe)
|
rs780412565
|
|
NM_001042492.3(NF1):c.1908T>C (p.Ser636=)
|
rs2144026596
|
|
NM_001042492.3(NF1):c.1908del (p.Ser637fs)
|
rs2144026600
|
|
NM_001042492.3(NF1):c.1909A>C (p.Ser637Arg)
|
|
|
NM_001042492.3(NF1):c.1909A>G (p.Ser637Gly)
|
|
|
NM_001042492.3(NF1):c.1910G>C (p.Ser637Thr)
|
rs749745247
|
|
NM_001042492.3(NF1):c.1911T>C (p.Ser637=)
|
|
|
NM_001042492.3(NF1):c.1912G>T (p.Gly638Ter)
|
rs1555613567
|
|
NM_001042492.3(NF1):c.1913G>T (p.Gly638Val)
|
|
|
NM_001042492.3(NF1):c.1915A>C (p.Asn639His)
|
|
|
NM_001042492.3(NF1):c.1915A>T (p.Asn639Tyr)
|
rs2144026692
|
|
NM_001042492.3(NF1):c.1916A>G (p.Asn639Ser)
|
rs1060500275
|
|
NM_001042492.3(NF1):c.1918A>G (p.Thr640Ala)
|
rs2144026733
|
|
NM_001042492.3(NF1):c.1918dup (p.Thr640fs)
|
rs1135402825
|
|
NM_001042492.3(NF1):c.1919C>G (p.Thr640Ser)
|
rs1555613573
|
|
NM_001042492.3(NF1):c.1919C>T (p.Thr640Ile)
|
rs1555613573
|
|
NM_001042492.3(NF1):c.1920C>G (p.Thr640=)
|
rs1555613574
|
|
NM_001042492.3(NF1):c.1920C>T (p.Thr640=)
|
rs1555613574
|
|
NM_001042492.3(NF1):c.1920del (p.Ser641fs)
|
rs2144026762
|
|
NM_001042492.3(NF1):c.1921A>T (p.Ser641Cys)
|
rs769154907
|
|
NM_001042492.3(NF1):c.1922G>A (p.Ser641Asn)
|
|
|
NM_001042492.3(NF1):c.1924C>T (p.Gln642Ter)
|
rs2066991605
|
|
NM_001042492.3(NF1):c.1927A>G (p.Met643Val)
|
|
|
NM_001042492.3(NF1):c.1929G>A (p.Met643Ile)
|
rs2144026901
|
|
NM_001042492.3(NF1):c.1929_1948del (p.Met643fs)
|
|
|
NM_001042492.3(NF1):c.192T>C (p.Asn64=)
|
|
|
NM_001042492.3(NF1):c.192_193insTAA (p.Val65Ter)
|
rs2143627506
|
|
NM_001042492.3(NF1):c.1930T>G (p.Ser644Ala)
|
|
|
NM_001042492.3(NF1):c.1930_1935del (p.Ser644_Met645del)
|
rs1373021403
|
|
NM_001042492.3(NF1):c.1931C>G (p.Ser644Cys)
|
rs1174202288
|
|
NM_001042492.3(NF1):c.1931_1934del (p.Ser644fs)
|
rs2066991740
|
|
NM_001042492.3(NF1):c.1932C>T (p.Ser644=)
|
|
|
NM_001042492.3(NF1):c.1934T>C (p.Met645Thr)
|
|
|
NM_001042492.3(NF1):c.1934del (p.Met645fs)
|
|
|
NM_001042492.3(NF1):c.1934dup (p.Met645fs)
|
|
|
NM_001042492.3(NF1):c.1935G>A (p.Met645Ile)
|
rs1597710605
|
|
NM_001042492.3(NF1):c.1936G>C (p.Asp646His)
|
rs142079728
|
|
NM_001042492.3(NF1):c.1936dup (p.Asp646fs)
|
|
|
NM_001042492.3(NF1):c.1938T>C (p.Asp646=)
|
rs876658620
|
|
NM_001042492.3(NF1):c.1939C>A (p.His647Asn)
|
|
|
NM_001042492.3(NF1):c.1939C>T (p.His647Tyr)
|
rs776251084
|
|
NM_001042492.3(NF1):c.1940A>C (p.His647Pro)
|
rs1170252879
|
|
NM_001042492.3(NF1):c.1940A>G (p.His647Arg)
|
rs1170252879
|
|
NM_001042492.3(NF1):c.1941T>A (p.His647Gln)
|
rs1397958327
|
|
NM_001042492.3(NF1):c.1941T>C (p.His647=)
|
rs1397958327
|
|
NM_001042492.3(NF1):c.1941T>G (p.His647Gln)
|
rs1397958327
|
|
NM_001042492.3(NF1):c.1942G>T (p.Glu648Ter)
|
rs2066992127
|
|
NM_001042492.3(NF1):c.1944_1954dup (p.Arg652fs)
|
|
|
NM_001042492.3(NF1):c.1945G>T (p.Glu649Ter)
|
rs2144027139
|
|
NM_001042492.3(NF1):c.1946_1950dup (p.Leu651fs)
|
rs2066992207
|
|
NM_001042492.3(NF1):c.1947A>G (p.Glu649=)
|
|
|
NM_001042492.3(NF1):c.1947del (p.Glu649fs)
|
|
|
NM_001042492.3(NF1):c.1948T>C (p.Leu650=)
|
rs1597710638
|
|
NM_001042492.3(NF1):c.1949T>A (p.Leu650Ter)
|
rs1135402826
|
|
NM_001042492.3(NF1):c.1949T>G (p.Leu650Ter)
|
rs1135402826
|
|
NM_001042492.3(NF1):c.1949_1967dup (p.Ser657fs)
|
|
|
NM_001042492.3(NF1):c.1950A>G (p.Leu650=)
|
rs1597710650
|
|
NM_001042492.3(NF1):c.1950del (p.Leu650fs)
|
rs1597710658
|
|
NM_001042492.3(NF1):c.1950dup (p.Leu651fs)
|
|
|
NM_001042492.3(NF1):c.1951C>T (p.Leu651=)
|
rs1555613590
|
|
NM_001042492.3(NF1):c.1953A>G (p.Leu651=)
|
rs1298717179
|
|
NM_001042492.3(NF1):c.1953_1969del (p.Arg652fs)
|
|
|
NM_001042492.3(NF1):c.1954_1955insTT (p.Arg652fs)
|
|
|
NM_001042492.3(NF1):c.1954del (p.Arg652fs)
|
rs1597710675
|
|
NM_001042492.3(NF1):c.1955G>C (p.Arg652Pro)
|
rs587778549
|
|
NM_001042492.3(NF1):c.1955G>T (p.Arg652Leu)
|
rs587778549
|
|
NM_001042492.3(NF1):c.1955_1956del (p.Arg652fs)
|
rs2066992658
|
|
NM_001042492.3(NF1):c.1955del (p.Arg652fs)
|
rs1597710690
|
|
NM_001042492.3(NF1):c.1957A>G (p.Thr653Ala)
|
rs1597710712
|
|
NM_001042492.3(NF1):c.1958C>G (p.Thr653Ser)
|
|
|
NM_001042492.3(NF1):c.195_196insGGGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAATGTT (p.Asn66delinsGlyGlyGlyAlaLysMetAlaGluTer)
|
|
|
NM_001042492.3(NF1):c.1960C>A (p.Pro654Thr)
|
rs765281937
|
|
NM_001042492.3(NF1):c.1960C>G (p.Pro654Ala)
|
rs765281937
|
|
NM_001042492.3(NF1):c.1960C>T (p.Pro654Ser)
|
rs765281937
|
|
NM_001042492.3(NF1):c.1960_1962del (p.Pro654del)
|
rs2144027388
|
|
NM_001042492.3(NF1):c.1962T>C (p.Pro654=)
|
rs1555613595
|
|
NM_001042492.3(NF1):c.1962T>G (p.Pro654=)
|
rs1555613595
|
|
NM_001042492.3(NF1):c.1962dup (p.Gly655fs)
|
|
|
NM_001042492.3(NF1):c.1963G>C (p.Gly655Arg)
|
rs2066993000
|
|
NM_001042492.3(NF1):c.1963_1973dup (p.Arg659fs)
|
|
|
NM_001042492.3(NF1):c.1964G>A (p.Gly655Glu)
|
|
|
NM_001042492.3(NF1):c.1964dup (p.Ala656fs)
|
|
|
NM_001042492.3(NF1):c.1965A>G (p.Gly655=)
|
rs2144027490
|
|
NM_001042492.3(NF1):c.1966G>A (p.Ala656Thr)
|
rs1555613598
|
|
NM_001042492.3(NF1):c.1967C>A (p.Ala656Asp)
|
rs775414476
|
|
NM_001042492.3(NF1):c.1967C>T (p.Ala656Val)
|
rs775414476
|
|
NM_001042492.3(NF1):c.1968C>T (p.Ala656=)
|
rs2144027539
|
|
NM_001042492.3(NF1):c.1969T>G (p.Ser657Ala)
|
rs1471484159
|
|
NM_001042492.3(NF1):c.196A>G (p.Asn66Asp)
|
|
|
NM_001042492.3(NF1):c.196_204+1del
|
|
|
NM_001042492.3(NF1):c.1970C>G (p.Ser657Cys)
|
|
|
NM_001042492.3(NF1):c.1973_1974del (p.Leu658fs)
|
rs1064796843
|
|
NM_001042492.3(NF1):c.1977G>A (p.Arg659=)
|
rs1597710788
|
|
NM_001042492.3(NF1):c.197_198insAGAATGTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAA (p.Asn66delinsLysGluCysTer)
|
rs2143627564
|
|
NM_001042492.3(NF1):c.197_198insATAA (p.Asn66delinsLysTer)
|
|
|
NM_001042492.3(NF1):c.1980G>A (p.Lys660=)
|
|
|
NM_001042492.3(NF1):c.1981G>A (p.Gly661Arg)
|
rs2066993430
|
|
NM_001042492.3(NF1):c.1982del (p.Gly661fs)
|
rs2144027729
|
|
NM_001042492.3(NF1):c.1983A>G (p.Gly661=)
|
|
|
NM_001042492.3(NF1):c.1984A>G (p.Lys662Glu)
|
rs1597710793
|
|
NM_001042492.3(NF1):c.1984A>T (p.Lys662Ter)
|
rs1597710793
|
|
NM_001042492.3(NF1):c.1985_1986del (p.Lys662fs)
|
rs2066993468
|
|
NM_001042492.3(NF1):c.1985_1991del (p.Lys662fs)
|
|
|
NM_001042492.3(NF1):c.1986A>G (p.Lys662=)
|
rs2144027825
|
|
NM_001042492.3(NF1):c.1986del (p.Asn664fs)
|
rs2066993468
|
|
NM_001042492.3(NF1):c.1986dup (p.Gly663fs)
|
rs2066993468
|
|
NM_001042492.3(NF1):c.1988G>A (p.Gly663Glu)
|
rs2066993661
|
|
NM_001042492.3(NF1):c.1988_2410-218delinsTGTC
|
|
|
NM_001042492.3(NF1):c.1989G>A (p.Gly663=)
|
|
|
NM_001042492.3(NF1):c.1989G>T (p.Gly663=)
|
|
|
NM_001042492.3(NF1):c.1989del (p.Asn664fs)
|
rs1202226733
|
|
NM_001042492.3(NF1):c.198_200del (p.Asn67del)
|
|
|
NM_001042492.3(NF1):c.198dup (p.Asn67fs)
|
rs2143627611
|
|
NM_001042492.3(NF1):c.1992C>T (p.Asn664=)
|
rs2144027926
|
|
NM_001042492.3(NF1):c.1995del (p.Ser666fs)
|
rs2066993840
|
|
NM_001042492.3(NF1):c.1996T>C (p.Ser666Pro)
|
rs876659281
|
|
NM_001042492.3(NF1):c.1996T>G (p.Ser666Ala)
|
rs876659281
|
|
NM_001042492.3(NF1):c.1996del (p.Ser666fs)
|
|
|
NM_001042492.3(NF1):c.1997C>T (p.Ser666Phe)
|
rs2066993930
|
|
NM_001042492.3(NF1):c.1998T>C (p.Ser666=)
|
rs1567846823
|
|
NM_001042492.3(NF1):c.2000T>C (p.Met667Thr)
|
|
|
NM_001042492.3(NF1):c.2001+10T>C
|
rs2144028200
|
|
NM_001042492.3(NF1):c.2001+11T>C
|
rs2144028217
|
|
NM_001042492.3(NF1):c.2001+11_2001+13del
|
rs750468034
|
|
NM_001042492.3(NF1):c.2001+12C>T
|
rs2144028237
|
|
NM_001042492.3(NF1):c.2001+13T>C
|
rs2144028253
|
|
NM_001042492.3(NF1):c.2001+16A>G
|
|
|
NM_001042492.3(NF1):c.2001+17C>T
|
|
|
NM_001042492.3(NF1):c.2001+18T>C
|
rs779458748
|
|
NM_001042492.3(NF1):c.2001+1G>A
|
rs2066994053
|
|
NM_001042492.3(NF1):c.2001+22dup
|
|
|
NM_001042492.3(NF1):c.2001+3C>G
|
rs876659863
|
|
NM_001042492.3(NF1):c.2001+3C>T
|
|
|
NM_001042492.3(NF1):c.2001+4A>G
|
|
|
NM_001042492.3(NF1):c.2001+5G>T
|
rs2144028091
|
|
NM_001042492.3(NF1):c.2001+6C>T
|
|
|
NM_001042492.3(NF1):c.2001+7T>C
|
rs878853870
|
|
NM_001042492.3(NF1):c.2001+7T>G
|
rs878853870
|
|
NM_001042492.3(NF1):c.2001+8T>C
|
|
|
NM_001042492.3(NF1):c.2001+8T>G
|
rs2144028166
|
|
NM_001042492.3(NF1):c.2001G>A (p.Met667Ile)
|
rs1597710853
|
|
NM_001042492.3(NF1):c.2002-10T>A
|
|
|
NM_001042492.3(NF1):c.2002-12C>G
|
|
|
NM_001042492.3(NF1):c.2002-13C>A
|
rs2067014254
|
|
NM_001042492.3(NF1):c.2002-14C>G
|
|
|
NM_001042492.3(NF1):c.2002-15A>C
|
rs2151425460
|
|
NM_001042492.3(NF1):c.2002-16C>T
|
rs2151425455
|
|
NM_001042492.3(NF1):c.2002-1G>A
|
rs1555613743
|
|
NM_001042492.3(NF1):c.2002-2A>G
|
rs1555613741
|
|
NM_001042492.3(NF1):c.2002-2_2002-1del
|
rs2151425505
|
|
NM_001042492.3(NF1):c.2002-3C>G
|
|
|
NM_001042492.3(NF1):c.2002-4T>C
|
|
|
NM_001042492.3(NF1):c.2002-4T>G
|
|
|
NM_001042492.3(NF1):c.2002-4_2002-3del
|
rs786203664
|
|
NM_001042492.3(NF1):c.2002-4_2010del
|
rs878853871
|
|
NM_001042492.3(NF1):c.2002-5C>G
|
rs1165625614
|
|
NM_001042492.3(NF1):c.2002-5C>T
|
rs1165625614
|
|
NM_001042492.3(NF1):c.2002-6T>C
|
rs2151425490
|
|
NM_001042492.3(NF1):c.2002-7_2002-3del
|
|
|
NM_001042492.3(NF1):c.2002-8A>G
|
rs1318674321
|
|
NM_001042492.3(NF1):c.2002-9G>A
|
|
|
NM_001042492.3(NF1):c.2002G>A (p.Asp668Asn)
|
rs1445299269
|
|
NM_001042492.3(NF1):c.2002G>T (p.Asp668Tyr)
|
rs1445299269
|
|
NM_001042492.3(NF1):c.2006G>A (p.Ser669Asn)
|
rs1288056326
|
|
NM_001042492.3(NF1):c.2007T>C (p.Ser669=)
|
rs750622783
|
|
NM_001042492.3(NF1):c.2009C>T (p.Ala670Val)
|
|
|
NM_001042492.3(NF1):c.2009_2016dup (p.Cys673fs)
|
rs2151425528
|
|
NM_001042492.3(NF1):c.2010del (p.Ala671fs)
|
rs1597712251
|
|
NM_001042492.3(NF1):c.2010dup (p.Ala671fs)
|
rs2151425531
|
|
NM_001042492.3(NF1):c.2011G>A (p.Ala671Thr)
|
|
|
NM_001042492.3(NF1):c.2011G>T (p.Ala671Ser)
|
rs2151425535
|
|
NM_001042492.3(NF1):c.2012C>G (p.Ala671Gly)
|
rs760900648
|
|
NM_001042492.3(NF1):c.2013A>G (p.Ala671=)
|
rs786203349
|
|
NM_001042492.3(NF1):c.2014G>A (p.Gly672Arg)
|
rs786202632
|
|
NM_001042492.3(NF1):c.2015G>A (p.Gly672Glu)
|
|
|
NM_001042492.3(NF1):c.2015G>T (p.Gly672Val)
|
rs371817372
|
|
NM_001042492.3(NF1):c.2015_2024dup (p.Thr676fs)
|
|
|
NM_001042492.3(NF1):c.2016A>G (p.Gly672=)
|
|
|
NM_001042492.3(NF1):c.2018G>A (p.Cys673Tyr)
|
rs878853872
|
|
NM_001042492.3(NF1):c.2020A>G (p.Ser674Gly)
|
rs1555613753
|
|
NM_001042492.3(NF1):c.2021G>T (p.Ser674Ile)
|
|
|
NM_001042492.3(NF1):c.2022C>G (p.Ser674Arg)
|
rs2230851
|
|
NM_001042492.3(NF1):c.2023G>C (p.Gly675Arg)
|
rs779546178
|
|
NM_001042492.3(NF1):c.2023G>T (p.Gly675Ter)
|
|
|
NM_001042492.3(NF1):c.2024dup (p.Thr676fs)
|
|
|
NM_001042492.3(NF1):c.2025A>G (p.Gly675=)
|
|
|
NM_001042492.3(NF1):c.2026A>C (p.Thr676Pro)
|
rs2067015355
|
|
NM_001042492.3(NF1):c.2026del (p.Thr676fs)
|
|
|
NM_001042492.3(NF1):c.2027C>A (p.Thr676Asn)
|
|
|
NM_001042492.3(NF1):c.2027C>T (p.Thr676Ile)
|
rs1294581001
|
|
NM_001042492.3(NF1):c.2027_2034del (p.Thr676fs)
|
|
|
NM_001042492.3(NF1):c.2028C>A (p.Thr676=)
|
rs878853873
|
|
NM_001042492.3(NF1):c.2028C>G (p.Thr676=)
|
rs878853873
|
|
NM_001042492.3(NF1):c.2028C>T (p.Thr676=)
|
|
|
NM_001042492.3(NF1):c.2029C>T (p.Pro677Ser)
|
|
|
NM_001042492.3(NF1):c.202A>G (p.Met68Val)
|
|
|
NM_001042492.3(NF1):c.2030C>T (p.Pro677Leu)
|
|
|
NM_001042492.3(NF1):c.2031C>G (p.Pro677=)
|
rs753177596
|
|
NM_001042492.3(NF1):c.2032C>A (p.Pro678Thr)
|
rs758691069
|
|
NM_001042492.3(NF1):c.2032C>T (p.Pro678Ser)
|
rs758691069
|
|
NM_001042492.3(NF1):c.2032_2033insT (p.Pro678fs)
|
|
|
NM_001042492.3(NF1):c.2033_2034delinsTA (p.Pro678Leu)
|
rs1597712334
|
|
NM_001042492.3(NF1):c.2033_2034insA (p.Ile679fs)
|
|
|
NM_001042492.3(NF1):c.2033del (p.Pro678fs)
|
rs587781807
|
|
NM_001042492.3(NF1):c.2033dup (p.Ile679fs)
|
rs587781807
|
|
NM_001042492.3(NF1):c.2034G>T (p.Pro678=)
|
rs2285892
|
|
NM_001042492.3(NF1):c.2034_2035delinsAG (p.Ile679Val)
|
rs2067015935
|
|
NM_001042492.3(NF1):c.2034_2035insC (p.Ile679fs)
|
rs2151425611
|
|
NM_001042492.3(NF1):c.2034del (p.Ile679fs)
|
rs1567847384
|
|
NM_001042492.3(NF1):c.2034delinsCA (p.Ile679fs)
|
rs1064796331
|
|
NM_001042492.3(NF1):c.2035A>G (p.Ile679Val)
|
|
|
NM_001042492.3(NF1):c.2035dup (p.Ile679fs)
|
rs1555613773
|
|
NM_001042492.3(NF1):c.2036_2043dup (p.Gln682fs)
|
rs2151425597
|
|
NM_001042492.3(NF1):c.2038T>C (p.Cys680Arg)
|
rs1555613775
|
|
NM_001042492.3(NF1):c.2038del (p.Cys680fs)
|
|
|
NM_001042492.3(NF1):c.2038dup (p.Cys680fs)
|
|
|
NM_001042492.3(NF1):c.203T>C (p.Met68Thr)
|
rs779063198
|
|
NM_001042492.3(NF1):c.203_204del (p.Met68fs)
|
|
|
NM_001042492.3(NF1):c.204+1G>A
|
rs886039548
|
|
NM_001042492.3(NF1):c.204+1G>C
|
rs886039548
|
|
NM_001042492.3(NF1):c.204+1G>T
|
rs886039548
|
|
NM_001042492.3(NF1):c.204+2T>A
|
|
|
NM_001042492.3(NF1):c.204+2T>G
|
rs1597626161
|
|
NM_001042492.3(NF1):c.204+3G>C
|
|
|
NM_001042492.3(NF1):c.204+3_204+6del
|
rs1567814632
|
|
NM_001042492.3(NF1):c.204+4A>G
|
rs1555604946
|
|
NM_001042492.3(NF1):c.204+4del
|
rs1597626163
|
|
NM_001042492.3(NF1):c.204+6T>G
|
rs1555604948
|
|
NM_001042492.3(NF1):c.204+7A>G
|
rs748105842
|
|
NM_001042492.3(NF1):c.204+9T>C
|
rs771989896
|
|
NM_001042492.3(NF1):c.2041del (p.Arg681fs)
|
rs1567847398
|
|
NM_001042492.3(NF1):c.2042G>A (p.Arg681Gln)
|
rs786201768
|
|
NM_001042492.3(NF1):c.2042G>T (p.Arg681Leu)
|
rs786201768
|
|
NM_001042492.3(NF1):c.2043_2047dup (p.Ala683fs)
|
|
|
NM_001042492.3(NF1):c.2044C>A (p.Gln682Lys)
|
|
|
NM_001042492.3(NF1):c.2044C>T (p.Gln682Ter)
|
rs1597712392
|
|
NM_001042492.3(NF1):c.2045_2049dup (p.Gln684fs)
|
rs1597712398
|
|
NM_001042492.3(NF1):c.2046A>G (p.Gln682=)
|
rs2067016407
|
|
NM_001042492.3(NF1):c.2047G>A (p.Ala683Thr)
|
rs2151425636
|
|
NM_001042492.3(NF1):c.2048C>T (p.Ala683Val)
|
rs1284070052
|
|
NM_001042492.3(NF1):c.2049_2083del (p.Gln684fs)
|
rs2067016480
|
|
NM_001042492.3(NF1):c.204G>A (p.Met68Ile)
|
rs1441153485
|
|
NM_001042492.3(NF1):c.205-11T>C
|
|
|
NM_001042492.3(NF1):c.205-11_205-6delinsGGAAAA
|
rs2065715987
|
|
NM_001042492.3(NF1):c.205-14A>G
|
|
|
NM_001042492.3(NF1):c.205-16A>G
|
rs2143645089
|
|
NM_001042492.3(NF1):c.205-18_205-15dup
|
|
|
NM_001042492.3(NF1):c.205-19T>A
|
rs1597629649
|
|
NM_001042492.3(NF1):c.205-19T>C
|
rs1597629649
|
|
NM_001042492.3(NF1):c.205-1G>A
|
rs1555605362
|
|
NM_001042492.3(NF1):c.205-1G>C
|
rs1555605362
|
|
NM_001042492.3(NF1):c.205-2A>C
|
rs1597629679
|
|
NM_001042492.3(NF1):c.205-2A>G
|
rs1597629679
|
|
NM_001042492.3(NF1):c.205-3T>C
|
|
|
NM_001042492.3(NF1):c.205-7C>T
|
rs1597629659
|
|
NM_001042492.3(NF1):c.205-8del
|
rs2143645174
|
|
NM_001042492.3(NF1):c.205-9T>C
|
|
|
NM_001042492.3(NF1):c.2050C>G (p.Gln684Glu)
|
rs2067016517
|
|
NM_001042492.3(NF1):c.2050C>T (p.Gln684Ter)
|
rs2067016517
|
|
NM_001042492.3(NF1):c.2051A>C (p.Gln684Pro)
|
rs201076784
|
|
NM_001042492.3(NF1):c.2051A>G (p.Gln684Arg)
|
|
|
NM_001042492.3(NF1):c.2052G>A (p.Gln684=)
|
rs2151425654
|
|
NM_001042492.3(NF1):c.2053_2054del (p.Thr685fs)
|
|
|
NM_001042492.3(NF1):c.2054C>A (p.Thr685Asn)
|
rs876658190
|
|
NM_001042492.3(NF1):c.2058del (p.Lys686fs)
|
|
|
NM_001042492.3(NF1):c.2059C>G (p.Leu687Val)
|
rs1597712422
|
|
NM_001042492.3(NF1):c.2059C>T (p.Leu687=)
|
rs1597712422
|
|
NM_001042492.3(NF1):c.205A>G (p.Arg69Gly)
|
|
|
NM_001042492.3(NF1):c.2061A>C (p.Leu687=)
|
rs143671377
|
|
NM_001042492.3(NF1):c.2062G>C (p.Glu688Gln)
|
rs1555613784
|
|
NM_001042492.3(NF1):c.2062G>T (p.Glu688Ter)
|
rs1555613784
|
|
NM_001042492.3(NF1):c.2064A>G (p.Glu688=)
|
|
|
NM_001042492.3(NF1):c.2064A>T (p.Glu688Asp)
|
rs1354039315
|
|
NM_001042492.3(NF1):c.2064del (p.Val689fs)
|
rs1555613786
|
|
NM_001042492.3(NF1):c.2064dup (p.Val689fs)
|
rs1555613786
|
|
NM_001042492.3(NF1):c.2066del (p.Val689fs)
|
|
|
NM_001042492.3(NF1):c.2068G>A (p.Ala690Thr)
|
|
|
NM_001042492.3(NF1):c.2068G>T (p.Ala690Ser)
|
|
|
NM_001042492.3(NF1):c.2069C>T (p.Ala690Val)
|
rs2067016932
|
|
NM_001042492.3(NF1):c.206G>T (p.Arg69Ile)
|
rs1216707810
|
|
NM_001042492.3(NF1):c.2070C>T (p.Ala690=)
|
rs2151425696
|
|
NM_001042492.3(NF1):c.2070_2099del (p.Leu691_Thr700del)
|
|
|
NM_001042492.3(NF1):c.2071del (p.Leu691fs)
|
rs1060500364
|
|
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.2072delinsGGGC (p.Leu691delinsArgAla)
|
rs2067017033
|
|
NM_001042492.3(NF1):c.2073G>A (p.Leu691=)
|
rs756988894
|
|
NM_001042492.3(NF1):c.2073G>C (p.Leu691=)
|
rs756988894
|
|
NM_001042492.3(NF1):c.2073G>T (p.Leu691=)
|
|
|
NM_001042492.3(NF1):c.2075_2080dup (p.Tyr692_Met693dup)
|
rs2067017065
|
|
NM_001042492.3(NF1):c.2075_2081del (p.Tyr692fs)
|
|
|
NM_001042492.3(NF1):c.2076C>G (p.Tyr692Ter)
|
|
|
NM_001042492.3(NF1):c.2076del (p.Leu691_Tyr692insTer)
|
|
|
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.2077_2078del (p.Met693fs)
|
rs1555613795
|
|
NM_001042492.3(NF1):c.2078T>C (p.Met693Thr)
|
rs2067017258
|
|
NM_001042492.3(NF1):c.2080T>C (p.Phe694Leu)
|
rs1597712476
|
|
NM_001042492.3(NF1):c.2082del (p.Leu695fs)
|
rs2151425736
|
|
NM_001042492.3(NF1):c.2082dup (p.Leu695fs)
|
rs2151425736
|
|
NM_001042492.3(NF1):c.2083C>T (p.Leu695=)
|
rs2151425744
|
|
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro)
|
rs199474761
|
|
NM_001042492.3(NF1):c.2085G>A (p.Leu695=)
|
rs1060503889
|
|
NM_001042492.3(NF1):c.2085G>T (p.Leu695=)
|
|
|
NM_001042492.3(NF1):c.2086_2088del (p.Trp696del)
|
rs2067017409
|
|
NM_001042492.3(NF1):c.2087G>A (p.Trp696Ter)
|
rs2151425754
|
|
NM_001042492.3(NF1):c.2088G>A (p.Trp696Ter)
|
rs1131691099
|
|
NM_001042492.3(NF1):c.2089A>G (p.Asn697Asp)
|
rs2151425757
|
|
NM_001042492.3(NF1):c.2090del (p.Asn697fs)
|
|
|
NM_001042492.3(NF1):c.2092C>A (p.Pro698Thr)
|
|
|
NM_001042492.3(NF1):c.2092C>G (p.Pro698Ala)
|
rs1182909595
|
|
NM_001042492.3(NF1):c.2093del (p.Pro698fs)
|
|
|
NM_001042492.3(NF1):c.2094T>C (p.Pro698=)
|
rs1555613798
|
|
NM_001042492.3(NF1):c.2095G>C (p.Asp699His)
|
|
|
NM_001042492.3(NF1):c.2095dup (p.Asp699fs)
|
|
|
NM_001042492.3(NF1):c.2098A>G (p.Thr700Ala)
|
rs1555613801
|
|
NM_001042492.3(NF1):c.2098dup (p.Thr700fs)
|
|
|
NM_001042492.3(NF1):c.2099C>G (p.Thr700Ser)
|
rs1446159048
|
|
NM_001042492.3(NF1):c.2099C>T (p.Thr700Ile)
|
|
|
NM_001042492.3(NF1):c.2099del (p.Thr700fs)
|
|
|
NM_001042492.3(NF1):c.2101G>A (p.Glu701Lys)
|
rs1597712510
|
|
NM_001042492.3(NF1):c.2101G>T (p.Glu701Ter)
|
|
|
NM_001042492.3(NF1):c.2103A>G (p.Glu701=)
|
rs2151425793
|
|
NM_001042492.3(NF1):c.2103A>T (p.Glu701Asp)
|
|
|
NM_001042492.3(NF1):c.2103del (p.Ala702fs)
|
|
|
NM_001042492.3(NF1):c.2105C>T (p.Ala702Val)
|
rs2067017751
|
|
NM_001042492.3(NF1):c.2106_2107insCA (p.Val703fs)
|
|
|
NM_001042492.3(NF1):c.2108_2112dup (p.Val705fs)
|
|
|
NM_001042492.3(NF1):c.210A>T (p.Ile70=)
|
rs2143645399
|
|
NM_001042492.3(NF1):c.210_211del (p.Phe71fs)
|
|
|
NM_001042492.3(NF1):c.2111del (p.Leu704fs)
|
rs2151425802
|
|
NM_001042492.3(NF1):c.2112G>A (p.Leu704=)
|
|
|
NM_001042492.3(NF1):c.2115T>C (p.Val705=)
|
|
|
NM_001042492.3(NF1):c.2115del (p.Ala706fs)
|
|
|
NM_001042492.3(NF1):c.2116G>A (p.Ala706Thr)
|
rs876658232
|
|
NM_001042492.3(NF1):c.2116dup (p.Ala706fs)
|
rs2151425815
|
|
NM_001042492.3(NF1):c.2117C>T (p.Ala706Val)
|
rs2151425819
|
|
NM_001042492.3(NF1):c.2119A>G (p.Met707Val)
|
rs2151425829
|
|
NM_001042492.3(NF1):c.2120T>C (p.Met707Thr)
|
|
|
NM_001042492.3(NF1):c.2122del (p.Ser708fs)
|
rs1597712535
|
|
NM_001042492.3(NF1):c.2123_2128del (p.Ser708_Cys709del)
|
rs2151425842
|
|
NM_001042492.3(NF1):c.2124C>G (p.Ser708=)
|
|
|
NM_001042492.3(NF1):c.2124C>T (p.Ser708=)
|
rs1406726344
|
|
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg)
|
rs1131691095
|
|
NM_001042492.3(NF1):c.2126G>A (p.Cys709Tyr)
|
rs864622547
|
|
NM_001042492.3(NF1):c.2126_2135delinsCC (p.Cys709fs)
|
|
|
NM_001042492.3(NF1):c.2127T>A (p.Cys709Ter)
|
rs2067018146
|
|
NM_001042492.3(NF1):c.2129del (p.Phe710fs)
|
rs2151425856
|
|
NM_001042492.3(NF1):c.2130C>T (p.Phe710=)
|
rs1555613806
|
|
NM_001042492.3(NF1):c.2131C>T (p.Arg711Cys)
|
rs1400902839
|
|
NM_001042492.3(NF1):c.2131del (p.Arg711fs)
|
rs2067018223
|
|
NM_001042492.3(NF1):c.2131dup (p.Arg711fs)
|
|
|
NM_001042492.3(NF1):c.2132G>C (p.Arg711Pro)
|
rs1479669686
|
|
NM_001042492.3(NF1):c.2132_2134del (p.Arg711del)
|
rs2151425862
|
|
NM_001042492.3(NF1):c.2132del (p.Arg711fs)
|
|
|
NM_001042492.3(NF1):c.2135A>G (p.His712Arg)
|
rs199474727
|
|
NM_001042492.3(NF1):c.2136C>A (p.His712Gln)
|
|
|
NM_001042492.3(NF1):c.2136C>T (p.His712=)
|
rs1597712580
|
|
NM_001042492.3(NF1):c.2137C>T (p.Leu713Phe)
|
|
|
NM_001042492.3(NF1):c.2137_2145del (p.Leu713_Glu715del)
|
|
|
NM_001042492.3(NF1):c.2139_2140del (p.Leu713_Cys714insTer)
|
|
|
NM_001042492.3(NF1):c.2140T>A (p.Cys714Ser)
|
rs2067018640
|
|
NM_001042492.3(NF1):c.2141G>T (p.Cys714Phe)
|
|
|
NM_001042492.3(NF1):c.2142T>C (p.Cys714=)
|
rs141382637
|
|
NM_001042492.3(NF1):c.2143G>T (p.Glu715Ter)
|
|
|
NM_001042492.3(NF1):c.2145G>A (p.Glu715=)
|
rs2067018804
|
|
NM_001042492.3(NF1):c.2148_2151dup (p.Asp718fs)
|
|
|
NM_001042492.3(NF1):c.2148_2159delinsTGAAGTGTCT (p.Glu716fs)
|
rs1567847538
|
|
NM_001042492.3(NF1):c.2148del (p.Ala717fs)
|
rs2151425907
|
|
NM_001042492.3(NF1):c.2152del (p.Asp718fs)
|
|
|
NM_001042492.3(NF1):c.2155A>G (p.Ile719Val)
|
|
|
NM_001042492.3(NF1):c.2155del (p.Ile719fs)
|
|
|
NM_001042492.3(NF1):c.2155dup (p.Ile719fs)
|
|
|
NM_001042492.3(NF1):c.2158C>A (p.Arg720=)
|
rs759679443
|
|
NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp)
|
rs759679443
|
|
NM_001042492.3(NF1):c.2158del (p.Arg720fs)
|
rs1597712619
|
|
NM_001042492.3(NF1):c.2158dup (p.Arg720fs)
|
rs1597712619
|
|
NM_001042492.3(NF1):c.2159G>T (p.Arg720Leu)
|
rs1350468182
|
|
NM_001042492.3(NF1):c.215G>A (p.Gly72Glu)
|
|
|
NM_001042492.3(NF1):c.2160G>A (p.Arg720=)
|
rs765339408
|
|
NM_001042492.3(NF1):c.2160G>T (p.Arg720=)
|
rs765339408
|
|
NM_001042492.3(NF1):c.2160del (p.Cys721fs)
|
|
|
NM_001042492.3(NF1):c.2161T>A (p.Cys721Ser)
|
rs1597712637
|
|
NM_001042492.3(NF1):c.2161T>C (p.Cys721Arg)
|
rs1597712637
|
|
NM_001042492.3(NF1):c.2161_2165dup (p.Asp724fs)
|
|
|
NM_001042492.3(NF1):c.2162G>A (p.Cys721Tyr)
|
|
|
NM_001042492.3(NF1):c.2162G>T (p.Cys721Phe)
|
rs2067019239
|
|
NM_001042492.3(NF1):c.2163T>A (p.Cys721Ter)
|
rs1555613816
|
|
NM_001042492.3(NF1):c.2165G>A (p.Gly722Glu)
|
rs2151425948
|
|
NM_001042492.3(NF1):c.2166G>A (p.Gly722=)
|
|
|
NM_001042492.3(NF1):c.2167G>A (p.Val723Met)
|
rs2151425958
|
|
NM_001042492.3(NF1):c.2167del (p.Val723fs)
|
rs1567847571
|
|
NM_001042492.3(NF1):c.2167dup (p.Val723fs)
|
rs1567847571
|
|
NM_001042492.3(NF1):c.2169G>A (p.Val723=)
|
rs2151425959
|
|
NM_001042492.3(NF1):c.2170_2191del (p.Asp724fs)
|
|
|
NM_001042492.3(NF1):c.2172dup (p.Glu725Ter)
|
|
|
NM_001042492.3(NF1):c.2173G>T (p.Glu725Ter)
|
|
|
NM_001042492.3(NF1):c.2174_2177dup (p.His729fs)
|
rs2151425977
|
|
NM_001042492.3(NF1):c.2175A>C (p.Glu725Asp)
|
|
|
NM_001042492.3(NF1):c.2175A>G (p.Glu725=)
|
rs1555613817
|
|
NM_001042492.3(NF1):c.2176G>T (p.Val726Leu)
|
rs2067019399
|
|
NM_001042492.3(NF1):c.2178G>T (p.Val726=)
|
|
|
NM_001042492.3(NF1):c.2178del (p.Ser727fs)
|
rs786202954
|
|
NM_001042492.3(NF1):c.2180C>G (p.Ser727Ter)
|
rs2151425993
|
|
NM_001042492.3(NF1):c.2180C>T (p.Ser727Leu)
|
rs2151425993
|
|
NM_001042492.3(NF1):c.2180dup (p.Val728fs)
|
|
|
NM_001042492.3(NF1):c.2183_2184insC (p.His729fs)
|
|
|
NM_001042492.3(NF1):c.2184G>A (p.Val728=)
|
|
|
NM_001042492.3(NF1):c.2184G>C (p.Val728=)
|
|
|
NM_001042492.3(NF1):c.2184G>T (p.Val728=)
|
rs2151426004
|
|
NM_001042492.3(NF1):c.2185del (p.His729fs)
|
|
|
NM_001042492.3(NF1):c.2186A>T (p.His729Leu)
|
|
|
NM_001042492.3(NF1):c.2187dup (p.Asn730Ter)
|
rs1555613821
|
|
NM_001042492.3(NF1):c.2188A>C (p.Asn730His)
|
rs758893131
|
|
NM_001042492.3(NF1):c.2188_2191dup (p.Leu731fs)
|
|
|
NM_001042492.3(NF1):c.2189_2193del (p.Asn730fs)
|
|
|
NM_001042492.3(NF1):c.2189del (p.Asn730fs)
|
rs2151426016
|
|
NM_001042492.3(NF1):c.2189dup (p.Asn730fs)
|
|
|
NM_001042492.3(NF1):c.2190C>A (p.Asn730Lys)
|
rs1176754107
|
|
NM_001042492.3(NF1):c.2190C>T (p.Asn730=)
|
rs1176754107
|
|
NM_001042492.3(NF1):c.2191dup (p.Leu731fs)
|
rs2151426027
|
|
NM_001042492.3(NF1):c.2193C>A (p.Leu731=)
|
rs2151426038
|
|
NM_001042492.3(NF1):c.2193C>G (p.Leu731=)
|
rs2151426038
|
|
NM_001042492.3(NF1):c.2193C>T (p.Leu731=)
|
rs2151426038
|
|
NM_001042492.3(NF1):c.2195T>A (p.Leu732Ter)
|
|
|
NM_001042492.3(NF1):c.2196G>T (p.Leu732Phe)
|
rs2067019832
|
|
NM_001042492.3(NF1):c.2198C>A (p.Pro733His)
|
|
|
NM_001042492.3(NF1):c.2198C>T (p.Pro733Leu)
|
|
|
NM_001042492.3(NF1):c.2199C>A (p.Pro733=)
|
rs1555613826
|
|
NM_001042492.3(NF1):c.2199C>T (p.Pro733=)
|
rs1555613826
|
|
NM_001042492.3(NF1):c.2199del (p.Asn734fs)
|
rs2067019858
|
|
NM_001042492.3(NF1):c.219A>T (p.Glu73Asp)
|
rs1567816022
|
|
NM_001042492.3(NF1):c.2200_2201insGTTA (p.Asn734delinsSerTer)
|
|
|
NM_001042492.3(NF1):c.2202C>T (p.Asn734=)
|
rs2067019953
|
|
NM_001042492.3(NF1):c.2203T>C (p.Tyr735His)
|
rs1555613827
|
|
NM_001042492.3(NF1):c.2203_2204insTT (p.Tyr735fs)
|
|
|
NM_001042492.3(NF1):c.2203dup (p.Tyr735fs)
|
|
|
NM_001042492.3(NF1):c.2205T>A (p.Tyr735Ter)
|
|
|
NM_001042492.3(NF1):c.2205_2206dup (p.Asn736fs)
|
|
|
NM_001042492.3(NF1):c.2205dup (p.Asn736Ter)
|
|
|
NM_001042492.3(NF1):c.2206A>C (p.Asn736His)
|
rs1567847621
|
|
NM_001042492.3(NF1):c.2207A>G (p.Asn736Ser)
|
|
|
NM_001042492.3(NF1):c.2208C>T (p.Asn736=)
|
rs1597712710
|
|
NM_001042492.3(NF1):c.2209del (p.Thr737fs)
|
rs2067020259
|
|
NM_001042492.3(NF1):c.220G>C (p.Ala74Pro)
|
|
|
NM_001042492.3(NF1):c.220G>T (p.Ala74Ser)
|
rs2065716371
|
|
NM_001042492.3(NF1):c.2210C>G (p.Thr737Arg)
|
|
|
NM_001042492.3(NF1):c.2210C>T (p.Thr737Ile)
|
|
|
NM_001042492.3(NF1):c.2210_2211del (p.Thr737fs)
|
rs1555613831
|
|
NM_001042492.3(NF1):c.2211A>T (p.Thr737=)
|
rs1178560430
|
|
NM_001042492.3(NF1):c.2212T>C (p.Phe738Leu)
|
rs2151426076
|
|
NM_001042492.3(NF1):c.2213T>G (p.Phe738Cys)
|
|
|
NM_001042492.3(NF1):c.2214C>T (p.Phe738=)
|
|
|
NM_001042492.3(NF1):c.2215A>G (p.Met739Val)
|
|
|
NM_001042492.3(NF1):c.2218G>T (p.Glu740Ter)
|
rs1135402827
|
|
NM_001042492.3(NF1):c.2219A>C (p.Glu740Ala)
|
|
|
NM_001042492.3(NF1):c.221C>T (p.Ala74Val)
|
rs199474726
|
|
NM_001042492.3(NF1):c.221_222dup (p.Ala75fs)
|
rs1597629724
|
|
NM_001042492.3(NF1):c.2220G>A (p.Glu740=)
|
rs2067020397
|
|
NM_001042492.3(NF1):c.2220G>C (p.Glu740Asp)
|
|
|
NM_001042492.3(NF1):c.2220G>T (p.Glu740Asp)
|
rs2067020397
|
|
NM_001042492.3(NF1):c.2220del (p.Glu740fs)
|
|
|
NM_001042492.3(NF1):c.2221T>A (p.Phe741Ile)
|
rs533819802
|
|
NM_001042492.3(NF1):c.2226C>G (p.Ala742=)
|
rs1060503912
|
|
NM_001042492.3(NF1):c.2227del (p.Ser743fs)
|
rs2151426113
|
|
NM_001042492.3(NF1):c.2229del (p.Val744fs)
|
rs2151426120
|
|
NM_001042492.3(NF1):c.2229dup (p.Val744fs)
|
rs2067020544
|
|
NM_001042492.3(NF1):c.2230G>A (p.Val744Ile)
|
rs786201833
|
|
NM_001042492.3(NF1):c.2230G>C (p.Val744Leu)
|
rs786201833
|
|
NM_001042492.3(NF1):c.2232C>G (p.Val744=)
|
rs748865537
|
|
NM_001042492.3(NF1):c.2232C>T (p.Val744=)
|
rs748865537
|
|
NM_001042492.3(NF1):c.2233A>G (p.Ser745Gly)
|
rs786201865
|
|
NM_001042492.3(NF1):c.2235C>T (p.Ser745=)
|
rs1060503901
|
|
NM_001042492.3(NF1):c.2236A>G (p.Asn746Asp)
|
rs2151426135
|
|
NM_001042492.3(NF1):c.2237A>G (p.Asn746Ser)
|
rs1176567641
|
|
NM_001042492.3(NF1):c.2239A>G (p.Met747Val)
|
rs1471232737
|
|
NM_001042492.3(NF1):c.2239dup (p.Met747fs)
|
|
|
NM_001042492.3(NF1):c.223G>A (p.Ala75Thr)
|
rs1597629733
|
|
NM_001042492.3(NF1):c.2240T>C (p.Met747Thr)
|
rs2151426144
|
|
NM_001042492.3(NF1):c.2240T>G (p.Met747Arg)
|
rs2151426144
|
|
NM_001042492.3(NF1):c.2242A>C (p.Met748Leu)
|
|
|
NM_001042492.3(NF1):c.2244G>A (p.Met748Ile)
|
rs786202478
|
|
NM_001042492.3(NF1):c.2244dup (p.Ser749fs)
|
rs1597712758
|
|
NM_001042492.3(NF1):c.2246C>G (p.Ser749Ter)
|
rs778344080
|
|
NM_001042492.3(NF1):c.2247A>G (p.Ser749=)
|
|
|
NM_001042492.3(NF1):c.2248A>T (p.Thr750Ser)
|
|
|
NM_001042492.3(NF1):c.2248del (p.Thr750fs)
|
rs2151426166
|
|
NM_001042492.3(NF1):c.2248dup (p.Thr750fs)
|
rs2151426166
|
|
NM_001042492.3(NF1):c.2249C>T (p.Thr750Ile)
|
|
|
NM_001042492.3(NF1):c.2249_2251+4dup
|
rs2067021029
|
|
NM_001042492.3(NF1):c.224C>G (p.Ala75Gly)
|
rs2065716538
|
|
NM_001042492.3(NF1):c.2250A>G (p.Thr750=)
|
rs876659061
|
|
NM_001042492.3(NF1):c.2251+10A>C
|
rs1431934984
|
|
NM_001042492.3(NF1):c.2251+11A>G
|
|
|
NM_001042492.3(NF1):c.2251+13A>G
|
rs2151426206
|
|
NM_001042492.3(NF1):c.2251+13del
|
rs2151426208
|
|
NM_001042492.3(NF1):c.2251+14G>A
|
|
|
NM_001042492.3(NF1):c.2251+15T>A
|
rs2067021817
|
|
NM_001042492.3(NF1):c.2251+15T>C
|
|
|
NM_001042492.3(NF1):c.2251+16G>T
|
|
|
NM_001042492.3(NF1):c.2251+17dup
|
|
|
NM_001042492.3(NF1):c.2251+1G>A
|
rs1555613843
|
|
NM_001042492.3(NF1):c.2251+1G>C
|
rs1555613843
|
|
NM_001042492.3(NF1):c.2251+1G>T
|
rs1555613843
|
|
NM_001042492.3(NF1):c.2251+1del
|
rs2151426173
|
|
NM_001042492.3(NF1):c.2251+25del
|
|
|
NM_001042492.3(NF1):c.2251+25dup
|
rs768340418
|
|
NM_001042492.3(NF1):c.2251+2T>A
|
|
|
NM_001042492.3(NF1):c.2251+2T>G
|
rs864622142
|
|
NM_001042492.3(NF1):c.2251+3A>G
|
|
|
NM_001042492.3(NF1):c.2251+4A>T
|
rs2067021300
|
|
NM_001042492.3(NF1):c.2251+5A>T
|
rs786201934
|
|
NM_001042492.3(NF1):c.2251+6T>A
|
rs2067021412
|
|
NM_001042492.3(NF1):c.2251+8T>G
|
rs2151426190
|
|
NM_001042492.3(NF1):c.2251+8del
|
|
|
NM_001042492.3(NF1):c.2251+9G>A
|
rs772014402
|
|
NM_001042492.3(NF1):c.2251+9G>C
|
rs772014402
|
|
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.2252-10A>G
|
rs2067030183
|
|
NM_001042492.3(NF1):c.2252-11T>C
|
rs2151426803
|
|
NM_001042492.3(NF1):c.2252-12G>C
|
rs747671446
|
|
NM_001042492.3(NF1):c.2252-12G>T
|
|
|
NM_001042492.3(NF1):c.2252-13T>A
|
rs778325867
|
|
NM_001042492.3(NF1):c.2252-14_2252-6del
|
|
|
NM_001042492.3(NF1):c.2252-15G>A
|
rs1225348649
|
|
NM_001042492.3(NF1):c.2252-15G>C
|
|
|
NM_001042492.3(NF1):c.2252-18G>C
|
rs754583248
|
|
NM_001042492.3(NF1):c.2252-1G>A
|
rs587781577
|
|
NM_001042492.3(NF1):c.2252-1G>C
|
rs587781577
|
|
NM_001042492.3(NF1):c.2252-1G>T
|
rs587781577
|
|
NM_001042492.3(NF1):c.2252-2A>C
|
rs1131691105
|
|
NM_001042492.3(NF1):c.2252-2A>G
|
rs1131691105
|
|
NM_001042492.3(NF1):c.2252-2A>T
|
|
|
NM_001042492.3(NF1):c.2252-33_2252-8del
|
rs1597713206
|
|
NM_001042492.3(NF1):c.2252-3T>G
|
rs1057518842
|
|
NM_001042492.3(NF1):c.2252-6G>A
|
|
|
NM_001042492.3(NF1):c.2252-6G>C
|
|
|
NM_001042492.3(NF1):c.2252-70_2326-39dup
|
rs1555613896
|
|
NM_001042492.3(NF1):c.2252-9T>G
|
rs1555613907
|
|
NM_001042492.3(NF1):c.2254A>G (p.Arg752Gly)
|
rs2067030463
|
|
NM_001042492.3(NF1):c.2255G>A (p.Arg752Lys)
|
rs2151426839
|
|
NM_001042492.3(NF1):c.2256A>G (p.Arg752=)
|
rs2067030522
|
|
NM_001042492.3(NF1):c.2256A>T (p.Arg752Ser)
|
rs2067030522
|
|
NM_001042492.3(NF1):c.2256_2257del (p.Arg752fs)
|
rs2067030499
|
|
NM_001042492.3(NF1):c.2258C>T (p.Ala753Val)
|
|
|
NM_001042492.3(NF1):c.2259dup (p.Ala754fs)
|
|
|
NM_001042492.3(NF1):c.2260G>A (p.Ala754Thr)
|
rs1597713272
|
|
NM_001042492.3(NF1):c.2261C>G (p.Ala754Gly)
|
rs1555613912
|
|
NM_001042492.3(NF1):c.2266C>G (p.Gln756Glu)
|
rs1567847905
|
|
NM_001042492.3(NF1):c.2266C>T (p.Gln756Ter)
|
rs1567847905
|
|
NM_001042492.3(NF1):c.2267A>C (p.Gln756Pro)
|
|
|
NM_001042492.3(NF1):c.2267A>G (p.Gln756Arg)
|
rs1222770265
|
|
NM_001042492.3(NF1):c.2268del (p.Arg758fs)
|
rs2151426865
|
|
NM_001042492.3(NF1):c.2269A>G (p.Lys757Glu)
|
|
|
NM_001042492.3(NF1):c.2269A>T (p.Lys757Ter)
|
rs1270674587
|
|
NM_001042492.3(NF1):c.226G>T (p.Glu76Ter)
|
|
|
NM_001042492.3(NF1):c.2271A>G (p.Lys757=)
|
rs1555613916
|
|
NM_001042492.3(NF1):c.2271A>T (p.Lys757Asn)
|
rs1555613916
|
|
NM_001042492.3(NF1):c.2271_2272del (p.Arg758fs)
|
rs2067030828
|
|
NM_001042492.3(NF1):c.2271_2298dup (p.Glu767delinsLysSerAspGlyThrAlaGluAlaHisTer)
|
|
|
NM_001042492.3(NF1):c.2272A>T (p.Arg758Ter)
|
rs777759192
|
|
NM_001042492.3(NF1):c.2273G>C (p.Arg758Thr)
|
rs2067030950
|
|
NM_001042492.3(NF1):c.2274A>T (p.Arg758Ser)
|
rs1597713310
|
|
NM_001042492.3(NF1):c.2274_2275del (p.Arg758fs)
|
rs2151426874
|
|
NM_001042492.3(NF1):c.2275G>A (p.Val759Met)
|
|
|
NM_001042492.3(NF1):c.2275G>T (p.Val759Leu)
|
rs978948341
|
|
NM_001042492.3(NF1):c.2276T>C (p.Val759Ala)
|
rs2067031096
|
|
NM_001042492.3(NF1):c.2276T>G (p.Val759Gly)
|
|
|
NM_001042492.3(NF1):c.2276_2277del (p.Val759fs)
|
rs2151426879
|
|
NM_001042492.3(NF1):c.2276_2280del (p.Val759fs)
|
rs2067031065
|
|
NM_001042492.3(NF1):c.2276del (p.Val759fs)
|
rs2067031123
|
|
NM_001042492.3(NF1):c.2281G>A (p.Ala761Thr)
|
rs786202504
|
|
NM_001042492.3(NF1):c.2281G>C (p.Ala761Pro)
|
rs786202504
|
|
NM_001042492.3(NF1):c.2281del (p.Ala761fs)
|
|
|
NM_001042492.3(NF1):c.2284C>T (p.Leu762=)
|
rs370762336
|
|
NM_001042492.3(NF1):c.2284_2296del (p.Leu763fs)
|
|
|
NM_001042492.3(NF1):c.2286G>A (p.Leu762=)
|
rs876660624
|
|
NM_001042492.3(NF1):c.2287C>G (p.Leu763Val)
|
rs1597713340
|
|
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro)
|
rs199474762
|
|
NM_001042492.3(NF1):c.2288T>G (p.Leu763Arg)
|
rs199474762
|
|
NM_001042492.3(NF1):c.228A>G (p.Glu76=)
|
rs2143645674
|
|
NM_001042492.3(NF1):c.2290A>T (p.Arg764Trp)
|
rs2151426915
|
|
NM_001042492.3(NF1):c.2291G>A (p.Arg764Lys)
|
rs1170184937
|
|
NM_001042492.3(NF1):c.2293C>G (p.Arg765Gly)
|
rs1383770460
|
|
NM_001042492.3(NF1):c.2293del (p.Arg765fs)
|
rs1597713360
|
|
NM_001042492.3(NF1):c.2293dup (p.Arg765fs)
|
|
|
NM_001042492.3(NF1):c.2294G>C (p.Arg765Pro)
|
|
|
NM_001042492.3(NF1):c.2294G>T (p.Arg765Leu)
|
rs199474777
|
|
NM_001042492.3(NF1):c.2294_2295del (p.Arg765fs)
|
rs2067031470
|
|
NM_001042492.3(NF1):c.2294_2295delinsTT (p.Arg765Leu)
|
|
|
NM_001042492.3(NF1):c.2294del (p.Arg765fs)
|
rs2151426934
|
|
NM_001042492.3(NF1):c.2295_2298dup (p.Glu767delinsHisTer)
|
rs2151426942
|
|
NM_001042492.3(NF1):c.2297T>A (p.Ile766Asn)
|
|
|
NM_001042492.3(NF1):c.2297T>C (p.Ile766Thr)
|
|
|
NM_001042492.3(NF1):c.2297T>G (p.Ile766Ser)
|
rs863224657
|
|
NM_001042492.3(NF1):c.2298_2304del (p.Glu767fs)
|
rs786204154
|
|
NM_001042492.3(NF1):c.2301G>T (p.Glu767Asp)
|
rs746127097
|
|
NM_001042492.3(NF1):c.2303A>T (p.His768Leu)
|
rs2067031890
|
|
NM_001042492.3(NF1):c.2304T>C (p.His768=)
|
rs1597713390
|
|
NM_001042492.3(NF1):c.2305C>T (p.Pro769Ser)
|
rs2067031963
|
|
NM_001042492.3(NF1):c.2309_2315dup (p.Asn773fs)
|
rs1555613926
|
|
NM_001042492.3(NF1):c.230A>C (p.Lys77Thr)
|
rs2065716657
|
|
NM_001042492.3(NF1):c.230_233del (p.Lys77fs)
|
|
|
NM_001042492.3(NF1):c.230_239del (p.Lys77fs)
|
|
|
NM_001042492.3(NF1):c.2310T>C (p.Thr770=)
|
rs2151426973
|
|
NM_001042492.3(NF1):c.2310_2319del (p.Ala771fs)
|
rs2151426968
|
|
NM_001042492.3(NF1):c.2312C>T (p.Ala771Val)
|
rs1555613928
|
|
NM_001042492.3(NF1):c.2314G>T (p.Gly772Ter)
|
rs2151426983
|
|
NM_001042492.3(NF1):c.2316A>G (p.Gly772=)
|
rs2151426988
|
|
NM_001042492.3(NF1):c.2318del (p.Asn773fs)
|
|
|
NM_001042492.3(NF1):c.2318dup (p.Asn773fs)
|
rs2151426990
|
|
NM_001042492.3(NF1):c.2319dup (p.Thr774fs)
|
rs2067032198
|
|
NM_001042492.3(NF1):c.231A>G (p.Lys77=)
|
rs373563053
|
|
NM_001042492.3(NF1):c.231_235del (p.Lys77fs)
|
|
|
NM_001042492.3(NF1):c.2320A>G (p.Thr774Ala)
|
rs2151427000
|
|
NM_001042492.3(NF1):c.2320A>T (p.Thr774Ser)
|
rs2151427000
|
|
NM_001042492.3(NF1):c.2321C>T (p.Thr774Ile)
|
rs917302286
|
|
NM_001042492.3(NF1):c.2322T>C (p.Thr774=)
|
rs770111990
|
|
NM_001042492.3(NF1):c.2322_2323del (p.Glu775fs)
|
rs1567847962
|
|
NM_001042492.3(NF1):c.2322del (p.Glu775fs)
|
rs2151427010
|
|
NM_001042492.3(NF1):c.2322dup (p.Glu775Ter)
|
|
|
NM_001042492.3(NF1):c.2324A>C (p.Glu775Ala)
|
rs2067032355
|
|
NM_001042492.3(NF1):c.2325+10T>C
|
rs2151427043
|
|
NM_001042492.3(NF1):c.2325+12G>A
|
|
|
NM_001042492.3(NF1):c.2325+14A>G
|
rs1327151855
|
|
NM_001042492.3(NF1):c.2325+16C>T
|
rs371709563
|
|
NM_001042492.3(NF1):c.2325+17A>G
|
|
|
NM_001042492.3(NF1):c.2325+1G>A
|
rs1555613933
|
|
NM_001042492.3(NF1):c.2325+1G>C
|
|
|
NM_001042492.3(NF1):c.2325+1G>T
|
rs1555613933
|
|
NM_001042492.3(NF1):c.2325+20A>G
|
|
|
NM_001042492.3(NF1):c.2325+2T>C
|
rs1567847972
|
|
NM_001042492.3(NF1):c.2325+3A>G
|
rs1057517848
|
|
NM_001042492.3(NF1):c.2325+3A>T
|
|
|
NM_001042492.3(NF1):c.2325+3_2325+4dup
|
|
|
NM_001042492.3(NF1):c.2325+4T>C
|
rs1555613934
|
|
NM_001042492.3(NF1):c.2325+6C>A
|
rs1567847979
|
|
NM_001042492.3(NF1):c.2325+6C>T
|
rs1567847979
|
|
NM_001042492.3(NF1):c.2325+7C>G
|
|
|
NM_001042492.3(NF1):c.2325+7C>T
|
rs1555613937
|
|
NM_001042492.3(NF1):c.2325+8C>T
|
|
|
NM_001042492.3(NF1):c.2325G>A (p.Glu775=)
|
rs1555613932
|
|
NM_001042492.3(NF1):c.2325G>C (p.Glu775Asp)
|
rs1555613932
|
|
NM_001042492.3(NF1):c.2325G>T (p.Glu775Asp)
|
rs1555613932
|
|
NM_001042492.3(NF1):c.2326-11C>A
|
rs2151427406
|
|
NM_001042492.3(NF1):c.2326-11C>G
|
|
|
NM_001042492.3(NF1):c.2326-11C>T
|
|
|
NM_001042492.3(NF1):c.2326-13G>A
|
rs770203564
|
|
NM_001042492.3(NF1):c.2326-14T>C
|
rs2151427395
|
|
NM_001042492.3(NF1):c.2326-15T>A
|
rs1334545529
|
|
NM_001042492.3(NF1):c.2326-15T>C
|
|
|
NM_001042492.3(NF1):c.2326-16A>T
|
|
|
NM_001042492.3(NF1):c.2326-19A>G
|
|
|
NM_001042492.3(NF1):c.2326-1G>A
|
rs1567848100
|
|
NM_001042492.3(NF1):c.2326-1G>C
|
rs1567848100
|
|
NM_001042492.3(NF1):c.2326-1G>T
|
rs1567848100
|
|
NM_001042492.3(NF1):c.2326-2A>C
|
rs1555613975
|
|
NM_001042492.3(NF1):c.2326-2A>G
|
rs1555613975
|
|
NM_001042492.3(NF1):c.2326-2A>T
|
|
|
NM_001042492.3(NF1):c.2326-3T>G
|
rs876658946
|
|
NM_001042492.3(NF1):c.2326-4_2326-1del
|
rs2067037065
|
|
NM_001042492.3(NF1):c.2326-6T>G
|
rs1597713670
|
|
NM_001042492.3(NF1):c.2326-6_2338del
|
|
|
NM_001042492.3(NF1):c.2326-7A>G
|
rs2151427420
|
|
NM_001042492.3(NF1):c.2326-8C>T
|
rs878853874
|
|
NM_001042492.3(NF1):c.2326G>A (p.Ala776Thr)
|
rs199474771
|
|
NM_001042492.3(NF1):c.2326G>T (p.Ala776Ser)
|
rs199474771
|
|
NM_001042492.3(NF1):c.2327C>A (p.Ala776Asp)
|
rs2067037211
|
|
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.2329T>G (p.Trp777Gly)
|
rs876658853
|
|
NM_001042492.3(NF1):c.232_234del (p.Asn78del)
|
rs1555605367
|
|
NM_001042492.3(NF1):c.232_235del (p.Asn78fs)
|
rs2143645748
|
|
NM_001042492.3(NF1):c.2330G>A (p.Trp777Ter)
|
rs199474745
|
|
NM_001042492.3(NF1):c.2330G>C (p.Trp777Ser)
|
rs199474745
|
|
NM_001042492.3(NF1):c.2330G>T (p.Trp777Leu)
|
|
|
NM_001042492.3(NF1):c.2331G>A (p.Trp777Ter)
|
rs1555613983
|
|
NM_001042492.3(NF1):c.2332G>T (p.Glu778Ter)
|
rs749404479
|
|
NM_001042492.3(NF1):c.2334A>G (p.Glu778=)
|
|
|
NM_001042492.3(NF1):c.2335_2336insC (p.Asp779fs)
|
|
|
NM_001042492.3(NF1):c.2335_2338del (p.Asp779fs)
|
|
|
NM_001042492.3(NF1):c.2336dup (p.Asp779fs)
|
|
|
NM_001042492.3(NF1):c.2337T>G (p.Asp779Glu)
|
rs1555613989
|
|
NM_001042492.3(NF1):c.2338A>G (p.Thr780Ala)
|
rs1205746953
|
|
NM_001042492.3(NF1):c.2338_2343del (p.Thr780_His781del)
|
rs1135402828
|
|
NM_001042492.3(NF1):c.2338dup (p.Thr780fs)
|
rs1567848129
|
|
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.2339del (p.Thr780fs)
|
rs2067037681
|
|
NM_001042492.3(NF1):c.233A>G (p.Asn78Ser)
|
rs561555410
|
|
NM_001042492.3(NF1):c.233del (p.Asn78fs)
|
rs1438566555
|
|
NM_001042492.3(NF1):c.233dup (p.Asn78fs)
|
|
|
NM_001042492.3(NF1):c.2341C>T (p.His781Tyr)
|
rs1443362216
|
|
NM_001042492.3(NF1):c.2342A>C (p.His781Pro)
|
rs199474763
|
|
NM_001042492.3(NF1):c.2342A>G (p.His781Arg)
|
rs199474763
|
|
NM_001042492.3(NF1):c.2343T>C (p.His781=)
|
|
|
NM_001042492.3(NF1):c.2343del (p.His781fs)
|
rs2151427468
|
|
NM_001042492.3(NF1):c.2344G>A (p.Ala782Thr)
|
rs1352143970
|
|
NM_001042492.3(NF1):c.2344G>T (p.Ala782Ser)
|
rs1352143970
|
|
NM_001042492.3(NF1):c.2344dup (p.Ala782fs)
|
rs2151427470
|
|
NM_001042492.3(NF1):c.2345C>A (p.Ala782Glu)
|
|
|
NM_001042492.3(NF1):c.2346A>G (p.Ala782=)
|
rs1201234374
|
|
NM_001042492.3(NF1):c.2347A>G (p.Lys783Glu)
|
|
|
NM_001042492.3(NF1):c.2349del (p.Lys783fs)
|
rs1135402829
|
|
NM_001042492.3(NF1):c.234T>A (p.Asn78Lys)
|
rs876658354
|
|
NM_001042492.3(NF1):c.2350T>A (p.Trp784Arg)
|
rs199474730
|
|
NM_001042492.3(NF1):c.2350T>G (p.Trp784Gly)
|
|
|
NM_001042492.3(NF1):c.2350_2378dup (p.Asn793_Tyr794insGlyAsnLysGlnGlnSerTer)
|
rs2067037965
|
|
NM_001042492.3(NF1):c.2351G>A (p.Trp784Ter)
|
|
|
NM_001042492.3(NF1):c.2351G>C (p.Trp784Ser)
|
rs2067038047
|
|
NM_001042492.3(NF1):c.2352G>A (p.Trp784Ter)
|
rs199474778
|
|
NM_001042492.3(NF1):c.2352G>C (p.Trp784Cys)
|
rs199474778
|
|
NM_001042492.3(NF1):c.2353G>A (p.Glu785Lys)
|
rs1597713756
|
|
NM_001042492.3(NF1):c.2353G>T (p.Glu785Ter)
|
rs1597713756
|
|
NM_001042492.3(NF1):c.2353del (p.Glu785fs)
|
|
|
NM_001042492.3(NF1):c.2353dup (p.Glu785fs)
|
rs2067038120
|
|
NM_001042492.3(NF1):c.2355A>C (p.Glu785Asp)
|
|
|
NM_001042492.3(NF1):c.2356C>A (p.Gln786Lys)
|
rs1555613999
|
|
NM_001042492.3(NF1):c.2356C>G (p.Gln786Glu)
|
|
|
NM_001042492.3(NF1):c.2356C>T (p.Gln786Ter)
|
rs1555613999
|
|
NM_001042492.3(NF1):c.2358A>G (p.Gln786=)
|
rs762346437
|
|
NM_001042492.3(NF1):c.2359G>A (p.Ala787Thr)
|
rs2067038399
|
|
NM_001042492.3(NF1):c.235T>G (p.Leu79Val)
|
rs764855221
|
|
NM_001042492.3(NF1):c.2360C>A (p.Ala787Glu)
|
|
|
NM_001042492.3(NF1):c.2366del (p.Lys789fs)
|
|
|
NM_001042492.3(NF1):c.2367G>A (p.Lys789=)
|
rs2151427523
|
|
NM_001042492.3(NF1):c.2369_2370dup (p.Ile791Ter)
|
rs2067038509
|
|
NM_001042492.3(NF1):c.236T>G (p.Leu79Ter)
|
rs1597629765
|
|
NM_001042492.3(NF1):c.236del (p.Leu79fs)
|
rs749577520
|
|
NM_001042492.3(NF1):c.236dup (p.Leu79fs)
|
|
|
NM_001042492.3(NF1):c.2371A>G (p.Ile791Val)
|
rs2067038542
|
|
NM_001042492.3(NF1):c.2373C>A (p.Ile791=)
|
rs1033227891
|
|
NM_001042492.3(NF1):c.2373C>T (p.Ile791=)
|
rs1033227891
|
|
NM_001042492.3(NF1):c.2374C>T (p.Leu792Phe)
|
rs1555614005
|
|
NM_001042492.3(NF1):c.2374del (p.Asn793fs)
|
rs2151427546
|
|
NM_001042492.3(NF1):c.2375T>A (p.Leu792His)
|
rs1597713777
|
|
NM_001042492.3(NF1):c.2375T>C (p.Leu792Pro)
|
rs1597713777
|
|
NM_001042492.3(NF1):c.2376T>C (p.Leu792=)
|
|
|
NM_001042492.3(NF1):c.2376del (p.Asn793fs)
|
|
|
NM_001042492.3(NF1):c.2377A>G (p.Asn793Asp)
|
rs2067038668
|
|
NM_001042492.3(NF1):c.2379C>T (p.Asn793=)
|
rs1555614006
|
|
NM_001042492.3(NF1):c.237A>G (p.Leu79=)
|
rs752208826
|
|
NM_001042492.3(NF1):c.237A>T (p.Leu79Phe)
|
rs752208826
|
|
NM_001042492.3(NF1):c.237del (p.Leu79fs)
|
rs2143645855
|
|
NM_001042492.3(NF1):c.2380T>A (p.Tyr794Asn)
|
|
|
NM_001042492.3(NF1):c.2380del (p.Tyr794fs)
|
rs1567848178
|
|
NM_001042492.3(NF1):c.2382T>A (p.Tyr794Ter)
|
rs2151427564
|
|
NM_001042492.3(NF1):c.2382T>C (p.Tyr794=)
|
rs2151427564
|
|
NM_001042492.3(NF1):c.2382T>G (p.Tyr794Ter)
|
|
|
NM_001042492.3(NF1):c.2383C>A (p.Pro795Thr)
|
|
|
NM_001042492.3(NF1):c.2384C>T (p.Pro795Leu)
|
|
|
NM_001042492.3(NF1):c.2385A>G (p.Pro795=)
|
rs1555614009
|
|
NM_001042492.3(NF1):c.2386A>G (p.Lys796Glu)
|
|
|
NM_001042492.3(NF1):c.2388del (p.Ala797fs)
|
rs1555614011
|
|
NM_001042492.3(NF1):c.238del (p.Tyr80fs)
|
rs2065717116
|
|
NM_001042492.3(NF1):c.238dup (p.Tyr80fs)
|
|
|
NM_001042492.3(NF1):c.2390C>T (p.Ala797Val)
|
rs1181350360
|
|
NM_001042492.3(NF1):c.2391C>G (p.Ala797=)
|
|
|
NM_001042492.3(NF1):c.2392A>C (p.Lys798Gln)
|
rs1135402830
|
|
NM_001042492.3(NF1):c.2393A>C (p.Lys798Thr)
|
rs745498566
|
|
NM_001042492.3(NF1):c.2393A>G (p.Lys798Arg)
|
|
|
NM_001042492.3(NF1):c.2394A>G (p.Lys798=)
|
rs1597713814
|
|
NM_001042492.3(NF1):c.2395A>G (p.Met799Val)
|
rs1060500317
|
|
NM_001042492.3(NF1):c.2395A>T (p.Met799Leu)
|
rs1060500317
|
|
NM_001042492.3(NF1):c.2396T>C (p.Met799Thr)
|
rs2067039365
|
|
NM_001042492.3(NF1):c.2396_2409+4del
|
rs2067039276
|
|
NM_001042492.3(NF1):c.2398G>T (p.Glu800Ter)
|
rs2151427599
|
|
NM_001042492.3(NF1):c.2398del (p.Glu800fs)
|
rs2067039387
|
|
NM_001042492.3(NF1):c.239A>C (p.Tyr80Ser)
|
rs4795581
|
|
NM_001042492.3(NF1):c.239A>G (p.Tyr80Cys)
|
rs4795581
|
|
NM_001042492.3(NF1):c.239_240del (p.Tyr80fs)
|
|
|
NM_001042492.3(NF1):c.239_242del (p.Tyr80fs)
|
rs2143645885
|
|
NM_001042492.3(NF1):c.2400A>G (p.Glu800=)
|
rs2151427602
|
|
NM_001042492.3(NF1):c.2405G>A (p.Gly802Asp)
|
rs752404130
|
|
NM_001042492.3(NF1):c.2405del (p.Gly802fs)
|
rs2151427620
|
|
NM_001042492.3(NF1):c.2406C>T (p.Gly802=)
|
rs2151427624
|
|
NM_001042492.3(NF1):c.2407C>T (p.Gln803Ter)
|
rs1567848213
|
|
NM_001042492.3(NF1):c.2407del (p.Gln803fs)
|
|
|
NM_001042492.3(NF1):c.2408A>C (p.Gln803Pro)
|
|
|
NM_001042492.3(NF1):c.2409+11A>G
|
|
|
NM_001042492.3(NF1):c.2409+15T>C
|
rs2067039946
|
|
NM_001042492.3(NF1):c.2409+17G>A
|
|
|
NM_001042492.3(NF1):c.2409+18A>G
|
|
|
NM_001042492.3(NF1):c.2409+18A>T
|
rs186897285
|
|
NM_001042492.3(NF1):c.2409+19C>T
|
rs2151427715
|
|
NM_001042492.3(NF1):c.2409+1G>A
|
rs1555614022
|
|
NM_001042492.3(NF1):c.2409+1G>C
|
rs1555614022
|
|
NM_001042492.3(NF1):c.2409+1G>T
|
rs1555614022
|
|
NM_001042492.3(NF1):c.2409+1_2409+2insA
|
|
|
NM_001042492.3(NF1):c.2409+1dup
|
rs2151427637
|
|
NM_001042492.3(NF1):c.2409+23del
|
|
|
NM_001042492.3(NF1):c.2409+2T>A
|
rs876660826
|
|
NM_001042492.3(NF1):c.2409+2T>G
|
rs876660826
|
|
NM_001042492.3(NF1):c.2409+2del
|
rs878853875
|
|
NM_001042492.3(NF1):c.2409+2dup
|
|
|
NM_001042492.3(NF1):c.2409+3A>G
|
|
|
NM_001042492.3(NF1):c.2409+4A>G
|
rs536864173
|
|
NM_001042492.3(NF1):c.2409+4del
|
|
|
NM_001042492.3(NF1):c.2409+5G>C
|
rs763688567
|
|
NM_001042492.3(NF1):c.2409+7C>G
|
|
|
NM_001042492.3(NF1):c.2409+8T>G
|
rs2151427664
|
|
NM_001042492.3(NF1):c.2409+9G>C
|
|
|
NM_001042492.3(NF1):c.2409G>A (p.Gln803=)
|
|
|
NM_001042492.3(NF1):c.2409_2409+4delinsC
|
rs2151427639
|
|
NM_001042492.3(NF1):c.240T>A (p.Tyr80Ter)
|
rs2143645944
|
|
NM_001042492.3(NF1):c.240del (p.Leu81fs)
|
|
|
NM_001042492.3(NF1):c.2410-110_2850+65delinsAAAA
|
rs1555614169
|
|
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>G
|
rs1567848711
|
|
NM_001042492.3(NF1):c.2410-13A>T
|
rs1567848711
|
|
NM_001042492.3(NF1):c.2410-14A>G
|
rs773710071
|
|
NM_001042492.3(NF1):c.2410-15A>G
|
rs1597715031
|
|
NM_001042492.3(NF1):c.2410-16A>G
|
rs1567848704
|
|
NM_001042492.3(NF1):c.2410-18C>G
|
rs533210843
|
|
NM_001042492.3(NF1):c.2410-1G>A
|
rs1057518792
|
|
NM_001042492.3(NF1):c.2410-1G>C
|
rs1057518792
|
|
NM_001042492.3(NF1):c.2410-1G>T
|
|
|
NM_001042492.3(NF1):c.2410-20C>T
|
|
|
NM_001042492.3(NF1):c.2410-2A>C
|
rs2151428764
|
|
NM_001042492.3(NF1):c.2410-2A>G
|
rs2151428764
|
|
NM_001042492.3(NF1):c.2410-3T>C
|
|
|
NM_001042492.3(NF1):c.2410-3T>G
|
rs1450743199
|
|
NM_001042492.3(NF1):c.2410-4T>G
|
rs2151428759
|
|
NM_001042492.3(NF1):c.2410-5T>A
|
rs2151428754
|
|
NM_001042492.3(NF1):c.2410-5T>C
|
|
|
NM_001042492.3(NF1):c.2410-7T>C
|
|
|
NM_001042492.3(NF1):c.2410-8G>C
|
rs1060500270
|
|
NM_001042492.3(NF1):c.2410-9T>A
|
rs1597715061
|
|
NM_001042492.3(NF1):c.2410-9T>G
|
|
|
NM_001042492.3(NF1):c.2410G>C (p.Ala804Pro)
|
rs761109477
|
|
NM_001042492.3(NF1):c.2411C>T (p.Ala804Val)
|
|
|
NM_001042492.3(NF1):c.2411del (p.Ala804fs)
|
rs1555614180
|
|
NM_001042492.3(NF1):c.2412T>A (p.Ala804=)
|
|
|
NM_001042492.3(NF1):c.2412T>C (p.Ala804=)
|
rs2151428788
|
|
NM_001042492.3(NF1):c.2412del (p.Ala805fs)
|
|
|
NM_001042492.3(NF1):c.2414C>T (p.Ala805Val)
|
|
|
NM_001042492.3(NF1):c.2414_2427del (p.Ala805fs)
|
|
|
NM_001042492.3(NF1):c.2415T>C (p.Ala805=)
|
|
|
NM_001042492.3(NF1):c.2415T>G (p.Ala805=)
|
rs1555614182
|
|
NM_001042492.3(NF1):c.2419del (p.Ser807fs)
|
rs2067064355
|
|
NM_001042492.3(NF1):c.241C>A (p.Leu81Ile)
|
rs587782772
|
|
NM_001042492.3(NF1):c.2421C>G (p.Ser807Arg)
|
|
|
NM_001042492.3(NF1):c.2421C>T (p.Ser807=)
|
rs771345891
|
|
NM_001042492.3(NF1):c.2422C>T (p.Leu808Phe)
|
rs2067064463
|
|
NM_001042492.3(NF1):c.2424del (p.His809fs)
|
rs1567848731
|
|
NM_001042492.3(NF1):c.2426A>C (p.His809Pro)
|
rs2151428826
|
|
NM_001042492.3(NF1):c.2427C>T (p.His809=)
|
|
|
NM_001042492.3(NF1):c.2428A>G (p.Lys810Glu)
|
rs2151428832
|
|
NM_001042492.3(NF1):c.2429dup (p.Thr811fs)
|
rs2151428834
|
|
NM_001042492.3(NF1):c.242T>C (p.Leu81Pro)
|
rs2143646000
|
|
NM_001042492.3(NF1):c.2432C>T (p.Thr811Ile)
|
|
|
NM_001042492.3(NF1):c.2433C>G (p.Thr811=)
|
|
|
NM_001042492.3(NF1):c.2433dup (p.Ile812fs)
|
|
|
NM_001042492.3(NF1):c.2434A>G (p.Ile812Val)
|
rs587781899
|
|
NM_001042492.3(NF1):c.2434del (p.Ile812fs)
|
rs1567848739
|
|
NM_001042492.3(NF1):c.2435T>C (p.Ile812Thr)
|
|
|
NM_001042492.3(NF1):c.2436T>C (p.Ile812=)
|
|
|
NM_001042492.3(NF1):c.2437G>A (p.Val813Ile)
|
rs878853876
|
|
NM_001042492.3(NF1):c.2439_2440insG (p.Lys814fs)
|
rs2067064699
|
|
NM_001042492.3(NF1):c.243C>G (p.Leu81=)
|
|
|
NM_001042492.3(NF1):c.243C>T (p.Leu81=)
|
rs1597629805
|
|
NM_001042492.3(NF1):c.243_254delinsTGAGAGAGA (p.Ser82_Ile85delinsGluArgAsp)
|
rs1597629809
|
|
NM_001042492.3(NF1):c.2440A>G (p.Lys814Glu)
|
rs1555614184
|
|
NM_001042492.3(NF1):c.2440A>T (p.Lys814Ter)
|
rs1555614184
|
|
NM_001042492.3(NF1):c.2441A>C (p.Lys814Thr)
|
rs1555614185
|
|
NM_001042492.3(NF1):c.2441A>T (p.Lys814Met)
|
rs1555614185
|
|
NM_001042492.3(NF1):c.2441del (p.Lys814fs)
|
|
|
NM_001042492.3(NF1):c.2441dup (p.Arg815fs)
|
|
|
NM_001042492.3(NF1):c.2443A>C (p.Arg815=)
|
|
|
NM_001042492.3(NF1):c.2443del (p.Arg815fs)
|
rs2151428869
|
|
NM_001042492.3(NF1):c.2444G>A (p.Arg815Lys)
|
rs1597715123
|
|
NM_001042492.3(NF1):c.2445G>A (p.Arg815=)
|
rs1555614186
|
|
NM_001042492.3(NF1):c.2445G>C (p.Arg815Ser)
|
|
|
NM_001042492.3(NF1):c.2446C>G (p.Arg816Gly)
|
|
|
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)
|
rs886041347
|
|
NM_001042492.3(NF1):c.2447G>C (p.Arg816Pro)
|
rs762709897
|
|
NM_001042492.3(NF1):c.2447del (p.Arg816fs)
|
rs2067064931
|
|
NM_001042492.3(NF1):c.2448A>C (p.Arg816=)
|
rs2151428883
|
|
NM_001042492.3(NF1):c.2449A>G (p.Met817Val)
|
rs2151428887
|
|
NM_001042492.3(NF1):c.2449dup (p.Met817fs)
|
rs1567848755
|
|
NM_001042492.3(NF1):c.244T>C (p.Ser82Pro)
|
rs1597629813
|
|
NM_001042492.3(NF1):c.244_247del (p.Ser82_Gln83insTer)
|
rs771115661
|
|
NM_001042492.3(NF1):c.244del (p.Ser82fs)
|
rs2143646047
|
|
NM_001042492.3(NF1):c.2450T>C (p.Met817Thr)
|
rs1597715147
|
|
NM_001042492.3(NF1):c.2450del (p.Met817fs)
|
rs2151428892
|
|
NM_001042492.3(NF1):c.2450dup (p.Met817fs)
|
rs2151428891
|
|
NM_001042492.3(NF1):c.2453_2454insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTNNNNNNNNNNAAAAAAAAAAAAGAGGCGAATGTC (p.His819fs)
|
rs2151428861
|
|
NM_001042492.3(NF1):c.2455del (p.His819fs)
|
rs1567848761
|
|
NM_001042492.3(NF1):c.2457T>C (p.His819=)
|
rs976466916
|
|
NM_001042492.3(NF1):c.2458del (p.His819_Val820insTer)
|
rs1597715179
|
|
NM_001042492.3(NF1):c.245C>A (p.Ser82Tyr)
|
rs199474729
|
|
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe)
|
rs199474729
|
|
NM_001042492.3(NF1):c.2460G>A (p.Val820=)
|
rs1216764866
|
|
NM_001042492.3(NF1):c.2462G>A (p.Ser821Asn)
|
rs1303972238
|
|
NM_001042492.3(NF1):c.2464G>A (p.Gly822Arg)
|
rs2067065463
|
|
NM_001042492.3(NF1):c.2464G>T (p.Gly822Ter)
|
rs2067065463
|
|
NM_001042492.3(NF1):c.2465del (p.Gly822fs)
|
|
|
NM_001042492.3(NF1):c.2466A>C (p.Gly822=)
|
rs1555614200
|
|
NM_001042492.3(NF1):c.2467G>T (p.Gly823Ter)
|
|
|
NM_001042492.3(NF1):c.2468G>A (p.Gly823Glu)
|
rs1060500267
|
|
NM_001042492.3(NF1):c.2468G>T (p.Gly823Val)
|
rs1060500267
|
|
NM_001042492.3(NF1):c.246T>G (p.Ser82=)
|
|
|
NM_001042492.3(NF1):c.246_247del (p.Gln83fs)
|
rs771115661
|
|
NM_001042492.3(NF1):c.2470G>A (p.Gly824Arg)
|
rs2067065609
|
|
NM_001042492.3(NF1):c.2471G>A (p.Gly824Glu)
|
rs2067065647
|
|
NM_001042492.3(NF1):c.2471G>T (p.Gly824Val)
|
rs2067065647
|
|
NM_001042492.3(NF1):c.2472A>T (p.Gly824=)
|
rs2151428931
|
|
NM_001042492.3(NF1):c.2474C>G (p.Ser825Cys)
|
rs1060500314
|
|
NM_001042492.3(NF1):c.2475C>T (p.Ser825=)
|
rs1597715206
|
|
NM_001042492.3(NF1):c.2476A>G (p.Ile826Val)
|
rs767069721
|
|
NM_001042492.3(NF1):c.2477T>C (p.Ile826Thr)
|
|
|
NM_001042492.3(NF1):c.2479G>A (p.Asp827Asn)
|
rs1597715215
|
|
NM_001042492.3(NF1):c.247C>A (p.Gln83Lys)
|
|
|
NM_001042492.3(NF1):c.247C>T (p.Gln83Ter)
|
rs746824139
|
|
NM_001042492.3(NF1):c.2481_2491del (p.Leu828fs)
|
rs2067065846
|
|
NM_001042492.3(NF1):c.2483T>A (p.Leu828Ter)
|
|
|
NM_001042492.3(NF1):c.2483del (p.Leu828fs)
|
rs1131691069
|
|
NM_001042492.3(NF1):c.2485T>G (p.Ser829Ala)
|
rs1555614202
|
|
NM_001042492.3(NF1):c.2485_2494del (p.Ser829fs)
|
rs2067065917
|
|
NM_001042492.3(NF1):c.2486C>G (p.Ser829Cys)
|
|
|
NM_001042492.3(NF1):c.2486C>T (p.Ser829Phe)
|
rs1567848794
|
|
NM_001042492.3(NF1):c.2487dup (p.Asp830Ter)
|
rs2151428963
|
|
NM_001042492.3(NF1):c.2488G>C (p.Asp830His)
|
rs2151428966
|
|
NM_001042492.3(NF1):c.248A>C (p.Gln83Pro)
|
rs1060500360
|
|
NM_001042492.3(NF1):c.248A>G (p.Gln83Arg)
|
rs1060500360
|
|
NM_001042492.3(NF1):c.2490C>A (p.Asp830Glu)
|
|
|
NM_001042492.3(NF1):c.2491A>G (p.Thr831Ala)
|
rs1555614204
|
|
NM_001042492.3(NF1):c.2492C>T (p.Thr831Ile)
|
|
|
NM_001042492.3(NF1):c.2492_2493del (p.Thr831fs)
|
|
|
NM_001042492.3(NF1):c.2493A>G (p.Thr831=)
|
|
|
NM_001042492.3(NF1):c.2495A>G (p.Asp832Gly)
|
rs1060500283
|
|
NM_001042492.3(NF1):c.2498C>T (p.Ser833Phe)
|
rs2067066207
|
|
NM_001042492.3(NF1):c.2499C>A (p.Ser833=)
|
rs2067066249
|
|
NM_001042492.3(NF1):c.2499C>G (p.Ser833=)
|
|
|
NM_001042492.3(NF1):c.2499C>T (p.Ser833=)
|
rs2067066249
|
|
NM_001042492.3(NF1):c.249G>C (p.Gln83His)
|
|
|
NM_001042492.3(NF1):c.2500C>G (p.Leu834Val)
|
|
|
NM_001042492.3(NF1):c.2500C>T (p.Leu834=)
|
rs1597715242
|
|
NM_001042492.3(NF1):c.2500del (p.Leu834fs)
|
|
|
NM_001042492.3(NF1):c.2503C>T (p.Gln835Ter)
|
rs1555614207
|
|
NM_001042492.3(NF1):c.2506G>T (p.Glu836Ter)
|
rs2067066435
|
|
NM_001042492.3(NF1):c.2506del (p.Glu836fs)
|
|
|
NM_001042492.3(NF1):c.2508A>G (p.Glu836=)
|
rs1555614208
|
|
NM_001042492.3(NF1):c.2509T>C (p.Trp837Arg)
|
rs587781747
|
|
NM_001042492.3(NF1):c.2509T>G (p.Trp837Gly)
|
rs587781747
|
|
NM_001042492.3(NF1):c.2511G>A (p.Trp837Ter)
|
rs1555614211
|
|
NM_001042492.3(NF1):c.2512A>G (p.Ile838Val)
|
rs1555614212
|
|
NM_001042492.3(NF1):c.2512A>T (p.Ile838Phe)
|
rs1555614212
|
|
NM_001042492.3(NF1):c.2513T>C (p.Ile838Thr)
|
rs1484277979
|
|
NM_001042492.3(NF1):c.2514C>G (p.Ile838Met)
|
rs863224352
|
|
NM_001042492.3(NF1):c.2514C>T (p.Ile838=)
|
rs863224352
|
|
NM_001042492.3(NF1):c.2516A>T (p.Asn839Ile)
|
rs1567848834
|
|
NM_001042492.3(NF1):c.2517del (p.Asn839fs)
|
|
|
NM_001042492.3(NF1):c.2518A>C (p.Met840Leu)
|
rs779931789
|
|
NM_001042492.3(NF1):c.2518A>G (p.Met840Val)
|
rs779931789
|
|
NM_001042492.3(NF1):c.2518_2519dup (p.Met840fs)
|
|
|
NM_001042492.3(NF1):c.2518_2530del (p.Met840fs)
|
|
|
NM_001042492.3(NF1):c.2520G>A (p.Met840Ile)
|
|
|
NM_001042492.3(NF1):c.2521A>C (p.Thr841Pro)
|
rs2067066952
|
|
NM_001042492.3(NF1):c.2521A>G (p.Thr841Ala)
|
|
|
NM_001042492.3(NF1):c.2521_2524dup (p.Gly842fs)
|
rs2067066922
|
|
NM_001042492.3(NF1):c.2523T>G (p.Thr841=)
|
rs1597715281
|
|
NM_001042492.3(NF1):c.2524G>A (p.Gly842Ser)
|
|
|
NM_001042492.3(NF1):c.2524_2531delinsAGCTTCCA (p.Gly842_Leu844delinsSerPheHis)
|
rs1597715286
|
|
NM_001042492.3(NF1):c.2525G>A (p.Gly842Asp)
|
rs1597715290
|
|
NM_001042492.3(NF1):c.2525G>C (p.Gly842Ala)
|
|
|
NM_001042492.3(NF1):c.2525G>T (p.Gly842Val)
|
|
|
NM_001042492.3(NF1):c.2525del (p.Gly842fs)
|
rs1597715284
|
|
NM_001042492.3(NF1):c.2525dup (p.Phe843fs)
|
rs1597715284
|
|
NM_001042492.3(NF1):c.2526C>T (p.Gly842=)
|
|
|
NM_001042492.3(NF1):c.2527T>G (p.Phe843Val)
|
rs2151429055
|
|
NM_001042492.3(NF1):c.2529C>T (p.Phe843=)
|
|
|
NM_001042492.3(NF1):c.252G>T (p.Leu84Phe)
|
rs1597629835
|
|
NM_001042492.3(NF1):c.252del (p.Ile85fs)
|
rs2143646186
|
|
NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe)
|
rs199474785
|
|
NM_001042492.3(NF1):c.2531T>A (p.Leu844His)
|
rs137854566
|
|
NM_001042492.3(NF1):c.2531T>C (p.Leu844Pro)
|
rs137854566
|
|
NM_001042492.3(NF1):c.2531T>G (p.Leu844Arg)
|
rs137854566
|
|
NM_001042492.3(NF1):c.2532T>C (p.Leu844=)
|
rs2151429065
|
|
NM_001042492.3(NF1):c.2532T>G (p.Leu844=)
|
|
|
NM_001042492.3(NF1):c.2533T>C (p.Cys845Arg)
|
rs1060500254
|
|
NM_001042492.3(NF1):c.2534G>A (p.Cys845Tyr)
|
rs1060500367
|
|
NM_001042492.3(NF1):c.2534G>T (p.Cys845Phe)
|
rs1060500367
|
|
NM_001042492.3(NF1):c.2535T>G (p.Cys845Trp)
|
rs2151429076
|
|
NM_001042492.3(NF1):c.2535_2541del (p.Cys845fs)
|
|
|
NM_001042492.3(NF1):c.2536G>A (p.Ala846Thr)
|
rs1555614226
|
|
NM_001042492.3(NF1):c.2536G>C (p.Ala846Pro)
|
rs1555614226
|
|
NM_001042492.3(NF1):c.2537C>A (p.Ala846Asp)
|
rs1555614229
|
|
NM_001042492.3(NF1):c.2539C>G (p.Leu847Val)
|
rs753552408
|
|
NM_001042492.3(NF1):c.2539C>T (p.Leu847Phe)
|
rs753552408
|
|
NM_001042492.3(NF1):c.2539dup (p.Leu847fs)
|
rs2067067405
|
|
NM_001042492.3(NF1):c.253_261del (p.Ile85_Leu87del)
|
rs2065717507
|
|
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)
|
rs199474747
|
|
NM_001042492.3(NF1):c.2540T>G (p.Leu847Arg)
|
rs199474747
|
|
NM_001042492.3(NF1):c.2542G>A (p.Gly848Arg)
|
rs1060500368
|
|
NM_001042492.3(NF1):c.2542G>C (p.Gly848Arg)
|
rs1060500368
|
|
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.2545_2546dup (p.Val850fs)
|
rs1567848878
|
|
NM_001042492.3(NF1):c.2546del (p.Gly849fs)
|
rs1567848878
|
|
NM_001042492.3(NF1):c.2546dup (p.Val850fs)
|
rs1567848878
|
|
NM_001042492.3(NF1):c.2549T>C (p.Val850Ala)
|
rs1424956205
|
|
NM_001042492.3(NF1):c.2550G>A (p.Val850=)
|
rs772148227
|
|
NM_001042492.3(NF1):c.2552G>T (p.Cys851Phe)
|
rs2067067965
|
|
NM_001042492.3(NF1):c.2552del (p.Cys851fs)
|
rs1555614260
|
|
NM_001042492.3(NF1):c.2553C>A (p.Cys851Ter)
|
rs2230852
|
|
NM_001042492.3(NF1):c.2554C>T (p.Leu852Phe)
|
rs747579293
|
|
NM_001042492.3(NF1):c.2555T>C (p.Leu852Pro)
|
|
|
NM_001042492.3(NF1):c.2555T>G (p.Leu852Arg)
|
rs876659440
|
|
NM_001042492.3(NF1):c.2557C>T (p.Gln853Ter)
|
rs2151429126
|
|
NM_001042492.3(NF1):c.2558A>G (p.Gln853Arg)
|
|
|
NM_001042492.3(NF1):c.2559G>T (p.Gln853His)
|
|
|
NM_001042492.3(NF1):c.255T>C (p.Ile85=)
|
|
|
NM_001042492.3(NF1):c.2560C>T (p.Gln854Ter)
|
rs1555614261
|
|
NM_001042492.3(NF1):c.2560_2570del (p.Gln854fs)
|
|
|
NM_001042492.3(NF1):c.2561A>G (p.Gln854Arg)
|
rs2151429134
|
|
NM_001042492.3(NF1):c.2562G>A (p.Gln854=)
|
|
|
NM_001042492.3(NF1):c.2563A>T (p.Arg855Ter)
|
rs2151429138
|
|
NM_001042492.3(NF1):c.2564G>A (p.Arg855Lys)
|
|
|
NM_001042492.3(NF1):c.2565A>C (p.Arg855Ser)
|
rs2067068283
|
|
NM_001042492.3(NF1):c.2567G>A (p.Ser856Asn)
|
rs2151429147
|
|
NM_001042492.3(NF1):c.2569A>C (p.Asn857His)
|
rs1060500259
|
|
NM_001042492.3(NF1):c.256A>C (p.Ile86Leu)
|
|
|
NM_001042492.3(NF1):c.256del (p.Ile86fs)
|
|
|
NM_001042492.3(NF1):c.2572T>C (p.Ser858Pro)
|
rs587778550
|
|
NM_001042492.3(NF1):c.2572dup (p.Ser858fs)
|
|
|
NM_001042492.3(NF1):c.2573C>T (p.Ser858Phe)
|
|
|
NM_001042492.3(NF1):c.2576G>A (p.Gly859Asp)
|
|
|
NM_001042492.3(NF1):c.2576del (p.Gly859fs)
|
|
|
NM_001042492.3(NF1):c.2577C>A (p.Gly859=)
|
rs746208651
|
|
NM_001042492.3(NF1):c.2578C>G (p.Leu860Val)
|
rs1597715404
|
|
NM_001042492.3(NF1):c.2578C>T (p.Leu860=)
|
rs1597715404
|
|
NM_001042492.3(NF1):c.2579del (p.Leu860fs)
|
|
|
NM_001042492.3(NF1):c.2581G>A (p.Ala861Thr)
|
rs768425956
|
|
NM_001042492.3(NF1):c.2582C>A (p.Ala861Glu)
|
rs1555614266
|
|
NM_001042492.3(NF1):c.2583A>G (p.Ala861=)
|
rs1060503891
|
|
NM_001042492.3(NF1):c.2584A>G (p.Thr862Ala)
|
rs1597715417
|
|
NM_001042492.3(NF1):c.2585C>T (p.Thr862Ile)
|
|
|
NM_001042492.3(NF1):c.2586C>G (p.Thr862=)
|
rs1567848941
|
|
NM_001042492.3(NF1):c.2586C>T (p.Thr862=)
|
rs1567848941
|
|
NM_001042492.3(NF1):c.2588A>G (p.Tyr863Cys)
|
rs1344682851
|
|
NM_001042492.3(NF1):c.2589T>C (p.Tyr863=)
|
rs587782814
|
|
NM_001042492.3(NF1):c.2589_2590dup (p.Ser864fs)
|
|
|
NM_001042492.3(NF1):c.258A>G (p.Ile86Met)
|
rs2143646253
|
|
NM_001042492.3(NF1):c.2594C>T (p.Pro865Leu)
|
rs786203084
|
|
NM_001042492.3(NF1):c.2594del (p.Pro865fs)
|
|
|
NM_001042492.3(NF1):c.2596C>T (p.Pro866Ser)
|
rs1555614272
|
|
NM_001042492.3(NF1):c.2596_2600dup (p.Met867fs)
|
rs2067069052
|
|
NM_001042492.3(NF1):c.2598del (p.Met867fs)
|
|
|
NM_001042492.3(NF1):c.2599A>G (p.Met867Val)
|
rs864622715
|
|
NM_001042492.3(NF1):c.2599_2600del (p.Met867fs)
|
|
|
NM_001042492.3(NF1):c.2599_2600dup (p.Met867fs)
|
|
|
NM_001042492.3(NF1):c.259T>G (p.Leu87Val)
|
|
|
NM_001042492.3(NF1):c.2604dup (p.Pro869fs)
|
rs878853877
|
|
NM_001042492.3(NF1):c.2606C>T (p.Pro869Leu)
|
rs878853878
|
|
NM_001042492.3(NF1):c.2607del (p.Val870fs)
|
|
|
NM_001042492.3(NF1):c.2607dup (p.Val870fs)
|
|
|
NM_001042492.3(NF1):c.2608G>T (p.Val870Phe)
|
|
|
NM_001042492.3(NF1):c.260dup (p.Leu87fs)
|
|
|
NM_001042492.3(NF1):c.2611A>G (p.Ser871Gly)
|
rs2067069318
|
|
NM_001042492.3(NF1):c.2612G>A (p.Ser871Asn)
|
|
|
NM_001042492.3(NF1):c.2613dup (p.Glu872Ter)
|
|
|
NM_001042492.3(NF1):c.2614G>T (p.Glu872Ter)
|
rs2151429255
|
|
NM_001042492.3(NF1):c.2617C>G (p.Arg873Gly)
|
rs199474739
|
|
NM_001042492.3(NF1):c.2618G>C (p.Arg873Pro)
|
rs949092641
|
|
NM_001042492.3(NF1):c.2618G>T (p.Arg873Leu)
|
rs949092641
|
|
NM_001042492.3(NF1):c.2619dup (p.Lys874Ter)
|
rs1555614284
|
|
NM_001042492.3(NF1):c.261G>C (p.Leu87Phe)
|
rs876658691
|
|
NM_001042492.3(NF1):c.2620A>T (p.Lys874Ter)
|
|
|
NM_001042492.3(NF1):c.2622_2629del (p.Lys874fs)
|
rs1567848976
|
|
NM_001042492.3(NF1):c.2623G>A (p.Gly875Ser)
|
rs754734571
|
|
NM_001042492.3(NF1):c.2623G>C (p.Gly875Arg)
|
rs754734571
|
|
NM_001042492.3(NF1):c.2623G>T (p.Gly875Cys)
|
rs754734571
|
|
NM_001042492.3(NF1):c.2623_2624dup (p.Ser876fs)
|
|
|
NM_001042492.3(NF1):c.2624G>A (p.Gly875Asp)
|
|
|
NM_001042492.3(NF1):c.2625T>C (p.Gly875=)
|
|
|
NM_001042492.3(NF1):c.2626del (p.Ser876fs)
|
rs770417659
|
|
NM_001042492.3(NF1):c.2626dup (p.Ser876fs)
|
rs770417659
|
|
NM_001042492.3(NF1):c.262G>C (p.Asp88His)
|
rs2065717750
|
|
NM_001042492.3(NF1):c.262G>T (p.Asp88Tyr)
|
|
|
NM_001042492.3(NF1):c.2630T>A (p.Met877Lys)
|
rs2151429296
|
|
NM_001042492.3(NF1):c.2630T>C (p.Met877Thr)
|
rs2151429296
|
|
NM_001042492.3(NF1):c.2631G>T (p.Met877Ile)
|
rs1597715515
|
|
NM_001042492.3(NF1):c.2633T>G (p.Ile878Ser)
|
|
|
NM_001042492.3(NF1):c.2634T>A (p.Ile878=)
|
rs758576740
|
|
NM_001042492.3(NF1):c.2636C>G (p.Ser879Ter)
|
|
|
NM_001042492.3(NF1):c.2636C>T (p.Ser879Leu)
|
rs2151429314
|
|
NM_001042492.3(NF1):c.2637A>G (p.Ser879=)
|
rs1555614288
|
|
NM_001042492.3(NF1):c.2638G>A (p.Val880Met)
|
rs1156571421
|
|
NM_001042492.3(NF1):c.2638_2650del (p.Val880fs)
|
|
|
NM_001042492.3(NF1):c.2639_2640dup (p.Met881Ter)
|
rs2151429322
|
|
NM_001042492.3(NF1):c.2641A>G (p.Met881Val)
|
rs1060500263
|
|
NM_001042492.3(NF1):c.2642T>C (p.Met881Thr)
|
rs777868654
|
|
NM_001042492.3(NF1):c.2643_2647del (p.Met881fs)
|
|
|
NM_001042492.3(NF1):c.2647T>C (p.Ser883Pro)
|
rs2151429342
|
|
NM_001042492.3(NF1):c.2648C>A (p.Ser883Ter)
|
rs2151429346
|
|
NM_001042492.3(NF1):c.2648C>T (p.Ser883Leu)
|
rs2151429346
|
|
NM_001042492.3(NF1):c.2649A>G (p.Ser883=)
|
rs2067070240
|
|
NM_001042492.3(NF1):c.2650G>T (p.Glu884Ter)
|
|
|
NM_001042492.3(NF1):c.2650_2657del (p.Glu884fs)
|
rs2151429354
|
|
NM_001042492.3(NF1):c.2652G>A (p.Glu884=)
|
rs757843283
|
|
NM_001042492.3(NF1):c.2653G>A (p.Gly885Arg)
|
rs1060500272
|
|
NM_001042492.3(NF1):c.2654G>A (p.Gly885Glu)
|
|
|
NM_001042492.3(NF1):c.2654del (p.Gly885fs)
|
rs2151429364
|
|
NM_001042492.3(NF1):c.2658C>G (p.Asn886Lys)
|
rs781549970
|
|
NM_001042492.3(NF1):c.265A>G (p.Thr89Ala)
|
|
|
NM_001042492.3(NF1):c.2660C>G (p.Ala887Gly)
|
|
|
NM_001042492.3(NF1):c.2660C>T (p.Ala887Val)
|
rs1567849029
|
|
NM_001042492.3(NF1):c.2661A>C (p.Ala887=)
|
rs1555614292
|
|
NM_001042492.3(NF1):c.2661A>G (p.Ala887=)
|
rs1555614292
|
|
NM_001042492.3(NF1):c.2662G>C (p.Asp888His)
|
|
|
NM_001042492.3(NF1):c.2663A>G (p.Asp888Gly)
|
|
|
NM_001042492.3(NF1):c.2665A>G (p.Thr889Ala)
|
rs1314766383
|
|
NM_001042492.3(NF1):c.2665dup (p.Thr889fs)
|
rs886041348
|
|
NM_001042492.3(NF1):c.2666C>A (p.Thr889Lys)
|
|
|
NM_001042492.3(NF1):c.2668C>A (p.Pro890Thr)
|
rs771012891
|
|
NM_001042492.3(NF1):c.2668C>T (p.Pro890Ser)
|
rs771012891
|
|
NM_001042492.3(NF1):c.2668_2677del (p.Pro890fs)
|
rs1555614293
|
|
NM_001042492.3(NF1):c.266C>A (p.Thr89Lys)
|
rs1555605392
|
|
NM_001042492.3(NF1):c.266dup (p.Leu90fs)
|
|
|
NM_001042492.3(NF1):c.2670T>A (p.Pro890=)
|
|
|
NM_001042492.3(NF1):c.2671G>A (p.Val891Ile)
|
rs1060500256
|
|
NM_001042492.3(NF1):c.2671G>C (p.Val891Leu)
|
rs1060500256
|
|
NM_001042492.3(NF1):c.2673_2674insT (p.Ser892Ter)
|
|
|
NM_001042492.3(NF1):c.2674A>C (p.Ser892Arg)
|
|
|
NM_001042492.3(NF1):c.2674A>T (p.Ser892Cys)
|
rs746324091
|
|
NM_001042492.3(NF1):c.2674del (p.Ser892fs)
|
rs1555614296
|
|
NM_001042492.3(NF1):c.2675_2686del (p.Ser892_Asp896delinsAsn)
|
|
|
NM_001042492.3(NF1):c.2677A>C (p.Lys893Gln)
|
rs2151429419
|
|
NM_001042492.3(NF1):c.2678A>G (p.Lys893Arg)
|
rs1597715604
|
|
NM_001042492.3(NF1):c.2679A>G (p.Lys893=)
|
|
|
NM_001042492.3(NF1):c.2679del (p.Lys893fs)
|
rs2067071059
|
|
NM_001042492.3(NF1):c.267A>C (p.Thr89=)
|
rs1597629858
|
|
NM_001042492.3(NF1):c.267A>T (p.Thr89=)
|
|
|
NM_001042492.3(NF1):c.2681T>C (p.Phe894Ser)
|
rs1282493551
|
|
NM_001042492.3(NF1):c.2682del (p.Phe894fs)
|
|
|
NM_001042492.3(NF1):c.2683A>G (p.Met895Val)
|
rs876659129
|
|
NM_001042492.3(NF1):c.2684T>G (p.Met895Arg)
|
rs1555614301
|
|
NM_001042492.3(NF1):c.2685G>A (p.Met895Ile)
|
rs770295902
|
|
NM_001042492.3(NF1):c.2685G>T (p.Met895Ile)
|
|
|
NM_001042492.3(NF1):c.2685_2686delinsTA (p.Met895_Asp896delinsIleAsn)
|
rs2151429433
|
|
NM_001042492.3(NF1):c.2686G>T (p.Asp896Tyr)
|
rs1189816828
|
|
NM_001042492.3(NF1):c.268C>A (p.Leu90Met)
|
|
|
NM_001042492.3(NF1):c.2690G>C (p.Arg897Pro)
|
rs863224658
|
|
NM_001042492.3(NF1):c.2693T>A (p.Leu898Gln)
|
rs199474786
|
|
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro)
|
rs199474786
|
|
NM_001042492.3(NF1):c.2693T>G (p.Leu898Arg)
|
rs199474786
|
|
NM_001042492.3(NF1):c.2694G>A (p.Leu898=)
|
rs1060503923
|
|
NM_001042492.3(NF1):c.2694G>C (p.Leu898=)
|
rs1060503923
|
|
NM_001042492.3(NF1):c.2695_2738dup (p.Ile913_Arg914insCysProTer)
|
rs1597715646
|
|
NM_001042492.3(NF1):c.2696del (p.Leu899fs)
|
|
|
NM_001042492.3(NF1):c.2699C>T (p.Ser900Phe)
|
|
|
NM_001042492.3(NF1):c.269T>A (p.Leu90Gln)
|
rs1555605393
|
|
NM_001042492.3(NF1):c.269T>C (p.Leu90Pro)
|
rs1555605393
|
|
NM_001042492.3(NF1):c.269T>G (p.Leu90Arg)
|
rs1555605393
|
|
NM_001042492.3(NF1):c.2700C>A (p.Ser900=)
|
|
|
NM_001042492.3(NF1):c.2700C>T (p.Ser900=)
|
|
|
NM_001042492.3(NF1):c.2700dup (p.Met902fs)
|
rs2151429472
|
|
NM_001042492.3(NF1):c.2702T>G (p.Leu901Ter)
|
rs1597715649
|
|
NM_001042492.3(NF1):c.2702del (p.Ser900_Leu901insTer)
|
|
|
NM_001042492.3(NF1):c.2703A>G (p.Leu901=)
|
rs2151429478
|
|
NM_001042492.3(NF1):c.2704dup (p.Met902fs)
|
|
|
NM_001042492.3(NF1):c.2705T>G (p.Met902Arg)
|
rs1353007349
|
|
NM_001042492.3(NF1):c.2705del (p.Met902fs)
|
rs2067071786
|
|
NM_001042492.3(NF1):c.2706G>A (p.Met902Ile)
|
rs2067071823
|
|
NM_001042492.3(NF1):c.2709G>A (p.Val903=)
|
rs771820789
|
|
NM_001042492.3(NF1):c.2709G>T (p.Val903=)
|
rs771820789
|
|
NM_001042492.3(NF1):c.270G>A (p.Leu90=)
|
rs2065717955
|
|
NM_001042492.3(NF1):c.270G>C (p.Leu90=)
|
rs2065717955
|
|
NM_001042492.3(NF1):c.270_272dup (p.Glu91dup)
|
rs2065717991
|
|
NM_001042492.3(NF1):c.2710T>A (p.Cys904Ser)
|
rs2151429494
|
|
NM_001042492.3(NF1):c.2710dup (p.Cys904fs)
|
rs1555614310
|
|
NM_001042492.3(NF1):c.2711G>C (p.Cys904Ser)
|
rs2151429496
|
|
NM_001042492.3(NF1):c.2716C>T (p.His906Tyr)
|
|
|
NM_001042492.3(NF1):c.2716_2770dup (p.Glu924delinsAlaTer)
|
|
|
NM_001042492.3(NF1):c.2718T>A (p.His906Gln)
|
rs2067072074
|
|
NM_001042492.3(NF1):c.2718T>C (p.His906=)
|
|
|
NM_001042492.3(NF1):c.271G>T (p.Glu91Ter)
|
|
|
NM_001042492.3(NF1):c.2721G>A (p.Glu907=)
|
rs2151429514
|
|
NM_001042492.3(NF1):c.2721del (p.Val909fs)
|
rs2151429516
|
|
NM_001042492.3(NF1):c.2722A>G (p.Lys908Glu)
|
|
|
NM_001042492.3(NF1):c.2724A>G (p.Lys908=)
|
rs2151429525
|
|
NM_001042492.3(NF1):c.2724del (p.Val909fs)
|
rs2067072110
|
|
NM_001042492.3(NF1):c.2724dup (p.Val909fs)
|
rs2067072110
|
|
NM_001042492.3(NF1):c.2725G>A (p.Val909Met)
|
|
|
NM_001042492.3(NF1):c.2725G>T (p.Val909Leu)
|
rs1567849105
|
|
NM_001042492.3(NF1):c.2726_2727insTAGGACTACAAATACGGACCAATGTTAAGGATCTGGTTGGTCTAGAATTGAGTCCTGCTC (p.Val909_Gly910insArgThrThrAsnThrAspGlnCysTer)
|
rs2151429528
|
|
NM_001042492.3(NF1):c.2727G>A (p.Val909=)
|
rs2151429530
|
|
NM_001042492.3(NF1):c.2728G>C (p.Gly910Arg)
|
|
|
NM_001042492.3(NF1):c.2728_2729del (p.Gly910fs)
|
rs1555614313
|
|
NM_001042492.3(NF1):c.2729G>T (p.Gly910Val)
|
|
|
NM_001042492.3(NF1):c.2729del (p.Gly910fs)
|
rs1555614313
|
|
NM_001042492.3(NF1):c.2729dup (p.Leu911fs)
|
rs1555614313
|
|
NM_001042492.3(NF1):c.2730A>G (p.Gly910=)
|
|
|
NM_001042492.3(NF1):c.2734C>T (p.Gln912Ter)
|
rs1597715673
|
|
NM_001042492.3(NF1):c.2737A>G (p.Ile913Val)
|
|
|
NM_001042492.3(NF1):c.2737_2747del (p.Ile913fs)
|
|
|
NM_001042492.3(NF1):c.2739A>G (p.Ile913Met)
|
rs2151429561
|
|
NM_001042492.3(NF1):c.2739dup (p.Arg914fs)
|
rs1555614319
|
|
NM_001042492.3(NF1):c.2740C>A (p.Arg914=)
|
rs765848298
|
|
NM_001042492.3(NF1):c.2742G>A (p.Arg914=)
|
rs1555614324
|
|
NM_001042492.3(NF1):c.2742G>C (p.Arg914=)
|
|
|
NM_001042492.3(NF1):c.2742del (p.Thr915fs)
|
|
|
NM_001042492.3(NF1):c.2745C>A (p.Thr915=)
|
rs759465116
|
|
NM_001042492.3(NF1):c.2745C>T (p.Thr915=)
|
|
|
NM_001042492.3(NF1):c.2745del (p.Asn916fs)
|
|
|
NM_001042492.3(NF1):c.2746A>G (p.Asn916Asp)
|
rs2067072617
|
|
NM_001042492.3(NF1):c.2747A>T (p.Asn916Ile)
|
rs765043916
|
|
NM_001042492.3(NF1):c.2747del (p.Asn916fs)
|
|
|
NM_001042492.3(NF1):c.2748dup (p.Val917fs)
|
rs2067072694
|
|
NM_001042492.3(NF1):c.274A>G (p.Lys92Glu)
|
rs1555605396
|
|
NM_001042492.3(NF1):c.274A>T (p.Lys92Ter)
|
|
|
NM_001042492.3(NF1):c.2752A>C (p.Lys918Gln)
|
|
|
NM_001042492.3(NF1):c.2752A>G (p.Lys918Glu)
|
|
|
NM_001042492.3(NF1):c.2752A>T (p.Lys918Ter)
|
|
|
NM_001042492.3(NF1):c.2753A>G (p.Lys918Arg)
|
|
|
NM_001042492.3(NF1):c.2754G>A (p.Lys918=)
|
rs1555614330
|
|
NM_001042492.3(NF1):c.2755G>T (p.Asp919Tyr)
|
rs1597715708
|
|
NM_001042492.3(NF1):c.2756del (p.Asp919fs)
|
rs2151429593
|
|
NM_001042492.3(NF1):c.2757T>A (p.Asp919Glu)
|
rs1131691110
|
|
NM_001042492.3(NF1):c.2758C>G (p.Leu920Val)
|
rs2151429594
|
|
NM_001042492.3(NF1):c.2759T>A (p.Leu920Gln)
|
rs199474775
|
|
NM_001042492.3(NF1):c.2759T>C (p.Leu920Pro)
|
rs199474775
|
|
NM_001042492.3(NF1):c.275A>G (p.Lys92Arg)
|
rs2065718099
|
|
NM_001042492.3(NF1):c.2760G>T (p.Leu920=)
|
rs1555614336
|
|
NM_001042492.3(NF1):c.2761G>A (p.Val921Met)
|
rs567023433
|
|
NM_001042492.3(NF1):c.2761G>T (p.Val921Leu)
|
|
|
NM_001042492.3(NF1):c.2762del (p.Val921fs)
|
|
|
NM_001042492.3(NF1):c.2763G>A (p.Val921=)
|
rs1597715725
|
|
NM_001042492.3(NF1):c.2764G>A (p.Gly922Ser)
|
rs1135402831
|
|
NM_001042492.3(NF1):c.2765G>C (p.Gly922Ala)
|
|
|
NM_001042492.3(NF1):c.2765del (p.Gly922fs)
|
rs2067073056
|
|
NM_001042492.3(NF1):c.2766T>G (p.Gly922=)
|
|
|
NM_001042492.3(NF1):c.2767C>G (p.Leu923Val)
|
|
|
NM_001042492.3(NF1):c.2769A>G (p.Leu923=)
|
rs1450651152
|
|
NM_001042492.3(NF1):c.2769A>T (p.Leu923=)
|
|
|
NM_001042492.3(NF1):c.276A>G (p.Lys92=)
|
rs1060503900
|
|
NM_001042492.3(NF1):c.276A>T (p.Lys92Asn)
|
rs1060503900
|
|
NM_001042492.3(NF1):c.276del (p.Lys92fs)
|
|
|
NM_001042492.3(NF1):c.276dup (p.Cys93fs)
|
|
|
NM_001042492.3(NF1):c.2772A>C (p.Glu924Asp)
|
rs2151429630
|
|
NM_001042492.3(NF1):c.2772A>G (p.Glu924=)
|
|
|
NM_001042492.3(NF1):c.2772del (p.Glu924fs)
|
|
|
NM_001042492.3(NF1):c.2773T>C (p.Leu925=)
|
rs2151429634
|
|
NM_001042492.3(NF1):c.2773_2774dup (p.Leu925fs)
|
|
|
NM_001042492.3(NF1):c.2774T>A (p.Leu925Ter)
|
rs2067073241
|
|
NM_001042492.3(NF1):c.2774del (p.Glu924_Leu925insTer)
|
|
|
NM_001042492.3(NF1):c.2776_2777del (p.Pro927fs)
|
|
|
NM_001042492.3(NF1):c.277T>C (p.Cys93Arg)
|
rs1555605398
|
|
NM_001042492.3(NF1):c.277dup (p.Cys93fs)
|
|
|
NM_001042492.3(NF1):c.2781T>A (p.Pro927=)
|
rs1555614337
|
|
NM_001042492.3(NF1):c.2781T>G (p.Pro927=)
|
rs1555614337
|
|
NM_001042492.3(NF1):c.2782G>A (p.Ala928Thr)
|
rs1277935019
|
|
NM_001042492.3(NF1):c.2783C>T (p.Ala928Val)
|
rs2067073386
|
|
NM_001042492.3(NF1):c.2784T>C (p.Ala928=)
|
rs2151429665
|
|
NM_001042492.3(NF1):c.2786T>C (p.Leu929Pro)
|
rs1555614338
|
|
NM_001042492.3(NF1):c.2786T>G (p.Leu929Arg)
|
rs1555614338
|
|
NM_001042492.3(NF1):c.2790T>G (p.Tyr930Ter)
|
rs1135402832
|
|
NM_001042492.3(NF1):c.2791C>G (p.Pro931Ala)
|
rs764290369
|
|
NM_001042492.3(NF1):c.2794A>C (p.Met932Leu)
|
rs886052800
|
|
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro)
|
rs1555614342
|
|
NM_001042492.3(NF1):c.2799A>G (p.Leu933=)
|
rs1597715783
|
|
NM_001042492.3(NF1):c.279T>A (p.Cys93Ter)
|
rs1597629882
|
|
NM_001042492.3(NF1):c.279T>C (p.Cys93=)
|
rs1597629882
|
|
NM_001042492.3(NF1):c.279T>G (p.Cys93Trp)
|
rs1597629882
|
|
NM_001042492.3(NF1):c.2800_2801insGT (p.Phe934fs)
|
rs2067073865
|
|
NM_001042492.3(NF1):c.2802del (p.Phe934fs)
|
rs1555614343
|
|
NM_001042492.3(NF1):c.2802dup (p.Asn935Ter)
|
rs1555614343
|
|
NM_001042492.3(NF1):c.2803_2804dup (p.Asn935fs)
|
|
|
NM_001042492.3(NF1):c.2805C>T (p.Asn935=)
|
rs1060503894
|
|
NM_001042492.3(NF1):c.2806A>G (p.Lys936Glu)
|
rs1555614345
|
|
NM_001042492.3(NF1):c.2807_2810del (p.Lys936fs)
|
|
|
NM_001042492.3(NF1):c.2809T>C (p.Leu937=)
|
|
|
NM_001042492.3(NF1):c.2810T>A (p.Leu937Ter)
|
rs1567849184
|
|
NM_001042492.3(NF1):c.2810T>G (p.Leu937Trp)
|
rs1567849184
|
|
NM_001042492.3(NF1):c.2810del (p.Lys936_Leu937insTer)
|
rs2067074098
|
|
NM_001042492.3(NF1):c.2811G>A (p.Leu937=)
|
|
|
NM_001042492.3(NF1):c.2811GAA[1] (p.Lys938del)
|
rs2151429739
|
|
NM_001042492.3(NF1):c.2812A>G (p.Lys938Glu)
|
rs2067074174
|
|
NM_001042492.3(NF1):c.2812_2813insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACCTAGGGAGGCAGAGGCAGGAGCATCTAGAGAACACGAGAACCAGACCATCATANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAACAAATTGA (p.Lys938delinsArgAlaGlyArgGlyGlySerArgLeuTer)
|
rs2151429717
|
|
NM_001042492.3(NF1):c.2816del (p.Asn939fs)
|
rs2151429750
|
|
NM_001042492.3(NF1):c.2817T>A (p.Asn939Lys)
|
rs2151429754
|
|
NM_001042492.3(NF1):c.2817T>C (p.Asn939=)
|
rs2151429754
|
|
NM_001042492.3(NF1):c.2818A>G (p.Thr940Ala)
|
rs1443857560
|
|
NM_001042492.3(NF1):c.281T>G (p.Leu94Arg)
|
rs1597629884
|
|
NM_001042492.3(NF1):c.2820C>G (p.Thr940=)
|
|
|
NM_001042492.3(NF1):c.2820C>T (p.Thr940=)
|
rs1597715827
|
|
NM_001042492.3(NF1):c.2821A>T (p.Ile941Phe)
|
|
|
NM_001042492.3(NF1):c.2822T>C (p.Ile941Thr)
|
rs2067074387
|
|
NM_001042492.3(NF1):c.2823del (p.Ser942fs)
|
rs2067074423
|
|
NM_001042492.3(NF1):c.2824A>C (p.Ser942Arg)
|
rs2151429775
|
|
NM_001042492.3(NF1):c.2824del (p.Ser942fs)
|
rs2067074457
|
|
NM_001042492.3(NF1):c.2825G>C (p.Ser942Thr)
|
rs1555614350
|
|
NM_001042492.3(NF1):c.2825_2847del (p.Ser942fs)
|
|
|
NM_001042492.3(NF1):c.2826C>G (p.Ser942Arg)
|
rs2151429785
|
|
NM_001042492.3(NF1):c.2826C>T (p.Ser942=)
|
|
|
NM_001042492.3(NF1):c.2827A>G (p.Lys943Glu)
|
rs1567849199
|
|
NM_001042492.3(NF1):c.2827A>T (p.Lys943Ter)
|
rs1567849199
|
|
NM_001042492.3(NF1):c.2827_2828del (p.Lys943fs)
|
|
|
NM_001042492.3(NF1):c.2829G>A (p.Lys943=)
|
rs1555614351
|
|
NM_001042492.3(NF1):c.282del (p.Ala95fs)
|
rs1555605404
|
|
NM_001042492.3(NF1):c.2831T>A (p.Phe944Tyr)
|
|
|
NM_001042492.3(NF1):c.2831_2832insAAAA (p.Phe944fs)
|
rs2151429795
|
|
NM_001042492.3(NF1):c.2834_2835del (p.Phe944_Phe945insTer)
|
rs1567849208
|
|
NM_001042492.3(NF1):c.2835del (p.Phe945fs)
|
rs1567849208
|
|
NM_001042492.3(NF1):c.2835dup (p.Asp946Ter)
|
rs1567849208
|
|
NM_001042492.3(NF1):c.2836G>C (p.Asp946His)
|
|
|
NM_001042492.3(NF1):c.2837A>G (p.Asp946Gly)
|
rs2067074650
|
|
NM_001042492.3(NF1):c.2839T>A (p.Ser947Thr)
|
rs1567849219
|
|
NM_001042492.3(NF1):c.2839del (p.Ser947fs)
|
|
|
NM_001042492.3(NF1):c.2839dup (p.Ser947fs)
|
|
|
NM_001042492.3(NF1):c.2840C>G (p.Ser947Cys)
|
rs878853879
|
|
NM_001042492.3(NF1):c.2841C>G (p.Ser947=)
|
rs1555614355
|
|
NM_001042492.3(NF1):c.2841C>T (p.Ser947=)
|
rs1555614355
|
|
NM_001042492.3(NF1):c.2842C>T (p.Gln948Ter)
|
rs1567849237
|
|
NM_001042492.3(NF1):c.2842del (p.Gln948fs)
|
rs1555614354
|
|
NM_001042492.3(NF1):c.2842dup (p.Gln948fs)
|
rs1555614354
|
|
NM_001042492.3(NF1):c.2843A>T (p.Gln948Leu)
|
|
|
NM_001042492.3(NF1):c.2844A>G (p.Gln948=)
|
|
|
NM_001042492.3(NF1):c.2846G>A (p.Gly949Glu)
|
|
|
NM_001042492.3(NF1):c.2846del (p.Gly949fs)
|
|
|
NM_001042492.3(NF1):c.2846dup (p.Gln950fs)
|
rs1555614358
|
|
NM_001042492.3(NF1):c.2847A>G (p.Gly949=)
|
rs1555614361
|
|
NM_001042492.3(NF1):c.2847A>T (p.Gly949=)
|
|
|
NM_001042492.3(NF1):c.2847_2850+1del
|
rs2151429826
|
|
NM_001042492.3(NF1):c.2848C>T (p.Gln950Ter)
|
rs1060500357
|
|
NM_001042492.3(NF1):c.2848del (p.Gln950fs)
|
rs1135402833
|
|
NM_001042492.3(NF1):c.284C>A (p.Ala95Asp)
|
|
|
NM_001042492.3(NF1):c.284C>G (p.Ala95Gly)
|
rs1567816119
|
|
NM_001042492.3(NF1):c.284C>T (p.Ala95Val)
|
rs1567816119
|
|
NM_001042492.3(NF1):c.284dup (p.Gly96fs)
|
rs2143646665
|
|
NM_001042492.3(NF1):c.2850+10TC[3]
|
rs2151429886
|
|
NM_001042492.3(NF1):c.2850+12T>G
|
|
|
NM_001042492.3(NF1):c.2850+13C>G
|
|
|
NM_001042492.3(NF1):c.2850+13C>T
|
rs777295195
|
|
NM_001042492.3(NF1):c.2850+15T>A
|
rs2151429901
|
|
NM_001042492.3(NF1):c.2850+15dup
|
|
|
NM_001042492.3(NF1):c.2850+16A>G
|
|
|
NM_001042492.3(NF1):c.2850+16_2850+17del
|
|
|
NM_001042492.3(NF1):c.2850+1G>A
|
rs1131691122
|
|
NM_001042492.3(NF1):c.2850+1G>C
|
|
|
NM_001042492.3(NF1):c.2850+1G>T
|
rs1131691122
|
|
NM_001042492.3(NF1):c.2850+2T>C
|
rs1597715880
|
|
NM_001042492.3(NF1):c.2850+2T>G
|
rs1597715880
|
|
NM_001042492.3(NF1):c.2850+5A>G
|
rs864622633
|
|
NM_001042492.3(NF1):c.2850+6G>A
|
rs756650807
|
|
NM_001042492.3(NF1):c.2850+6G>C
|
|
|
NM_001042492.3(NF1):c.2850+7T>A
|
|
|
NM_001042492.3(NF1):c.2850+7T>C
|
rs2151429871
|
|
NM_001042492.3(NF1):c.2850+7T>G
|
|
|
NM_001042492.3(NF1):c.2850+8G>A
|
rs780608020
|
|
NM_001042492.3(NF1):c.2850+9T>A
|
|
|
NM_001042492.3(NF1):c.2850+9T>C
|
rs749655343
|
|
NM_001042492.3(NF1):c.2850G>A (p.Gln950=)
|
rs863224446
|
|
NM_001042492.3(NF1):c.2850G>T (p.Gln950His)
|
|
|
NM_001042492.3(NF1):c.2851-10C>A
|
rs1555614412
|
|
NM_001042492.3(NF1):c.2851-10C>G
|
rs1555614412
|
|
NM_001042492.3(NF1):c.2851-10C>T
|
rs1555614412
|
|
NM_001042492.3(NF1):c.2851-13G>T
|
rs767526492
|
|
NM_001042492.3(NF1):c.2851-14T>A
|
|
|
NM_001042492.3(NF1):c.2851-151_2990+121dup
|
rs1555614386
|
|
NM_001042492.3(NF1):c.2851-15T>C
|
|
|
NM_001042492.3(NF1):c.2851-17A>G
|
|
|
NM_001042492.3(NF1):c.2851-17A>T
|
|
|
NM_001042492.3(NF1):c.2851-18T>G
|
rs1397797552
|
|
NM_001042492.3(NF1):c.2851-19G>A
|
rs763885879
|
|
NM_001042492.3(NF1):c.2851-19G>C
|
|
|
NM_001042492.3(NF1):c.2851-1G>A
|
rs1597716274
|
|
NM_001042492.3(NF1):c.2851-1G>C
|
rs1597716274
|
|
NM_001042492.3(NF1):c.2851-1_2857del
|
|
|
NM_001042492.3(NF1):c.2851-20T>C
|
|
|
NM_001042492.3(NF1):c.2851-20T>G
|
|
|
NM_001042492.3(NF1):c.2851-21_2851-17del
|
rs758020046
|
|
NM_001042492.3(NF1):c.2851-23_2851-7del
|
rs2067081767
|
|
NM_001042492.3(NF1):c.2851-2A>G
|
|
|
NM_001042492.3(NF1):c.2851-2A>T
|
rs2151430455
|
|
NM_001042492.3(NF1):c.2851-3del
|
rs876660379
|
|
NM_001042492.3(NF1):c.2851-4T>G
|
|
|
NM_001042492.3(NF1):c.2851-6C>G
|
|
|
NM_001042492.3(NF1):c.2851-6C>T
|
rs2151430447
|
|
NM_001042492.3(NF1):c.2851-6_2851-3del
|
rs1597716256
|
|
NM_001042492.3(NF1):c.2851-7T>C
|
rs2151430446
|
|
NM_001042492.3(NF1):c.2851G>A (p.Val951Ile)
|
rs1597716277
|
|
NM_001042492.3(NF1):c.2851G>T (p.Val951Phe)
|
rs1597716277
|
|
NM_001042492.3(NF1):c.2852T>C (p.Val951Ala)
|
|
|
NM_001042492.3(NF1):c.2855T>G (p.Leu952Ter)
|
rs2067082634
|
|
NM_001042492.3(NF1):c.2855_2856insG (p.Leu953fs)
|
rs2067082667
|
|
NM_001042492.3(NF1):c.2856A>G (p.Leu952=)
|
rs750488772
|
|
NM_001042492.3(NF1):c.2856del (p.Leu952fs)
|
rs2151430476
|
|
NM_001042492.3(NF1):c.2857T>C (p.Leu953=)
|
rs2151430478
|
|
NM_001042492.3(NF1):c.2858T>A (p.Leu953Ter)
|
rs2151430481
|
|
NM_001042492.3(NF1):c.2862T>A (p.Thr954=)
|
|
|
NM_001042492.3(NF1):c.2862_2867del (p.Asp955_Thr956del)
|
|
|
NM_001042492.3(NF1):c.2862dup (p.Asp955Ter)
|
|
|
NM_001042492.3(NF1):c.2865T>C (p.Asp955=)
|
|
|
NM_001042492.3(NF1):c.2866dup (p.Thr956fs)
|
rs1555614418
|
|
NM_001042492.3(NF1):c.2867C>G (p.Thr956Ser)
|
rs1323973848
|
|
NM_001042492.3(NF1):c.2867C>T (p.Thr956Ile)
|
rs1323973848
|
|
NM_001042492.3(NF1):c.2868C>T (p.Thr956=)
|
rs1597716290
|
|
NM_001042492.3(NF1):c.2868_2873del (p.Asn957_Thr958del)
|
rs2151430498
|
|
NM_001042492.3(NF1):c.2870A>G (p.Asn957Ser)
|
|
|
NM_001042492.3(NF1):c.2870A>T (p.Asn957Ile)
|
rs1135402834
|
|
NM_001042492.3(NF1):c.2870_2871delinsTC (p.Asn957Ile)
|
rs2151430516
|
|
NM_001042492.3(NF1):c.2870del (p.Asn957fs)
|
rs1555614423
|
|
NM_001042492.3(NF1):c.2871T>C (p.Asn957=)
|
rs2151430517
|
|
NM_001042492.3(NF1):c.2872dup (p.Thr958fs)
|
|
|
NM_001042492.3(NF1):c.2873_2877delinsTGG (p.Thr958fs)
|
rs1555614426
|
|
NM_001042492.3(NF1):c.2875C>T (p.Gln959Ter)
|
rs2151430537
|
|
NM_001042492.3(NF1):c.2876_2877insG (p.Phe960fs)
|
rs1555614429
|
|
NM_001042492.3(NF1):c.2877A>G (p.Gln959=)
|
rs1567849511
|
|
NM_001042492.3(NF1):c.288+10T>A
|
rs1364620059
|
|
NM_001042492.3(NF1):c.288+10T>C
|
|
|
NM_001042492.3(NF1):c.288+10T>G
|
rs1364620059
|
|
NM_001042492.3(NF1):c.288+1137C>T
|
|
|
NM_001042492.3(NF1):c.288+11T>A
|
|
|
NM_001042492.3(NF1):c.288+15C>T
|
|
|
NM_001042492.3(NF1):c.288+17T>A
|
|
|
NM_001042492.3(NF1):c.288+18A>G
|
|
|
NM_001042492.3(NF1):c.288+19A>C
|
|
|
NM_001042492.3(NF1):c.288+1G>A
|
rs1567816131
|
|
NM_001042492.3(NF1):c.288+1G>C
|
rs1567816131
|
|
NM_001042492.3(NF1):c.288+1G>T
|
rs1567816131
|
|
NM_001042492.3(NF1):c.288+1del
|
rs1057519370
|
|
NM_001042492.3(NF1):c.288+20G>A
|
|
|
NM_001042492.3(NF1):c.288+2T>A
|
rs1555605406
|
|
NM_001042492.3(NF1):c.288+2T>C
|
rs1555605406
|
|
NM_001042492.3(NF1):c.288+2T>G
|
|
|
NM_001042492.3(NF1):c.288+2dup
|
|
|
NM_001042492.3(NF1):c.288+3A>C
|
rs2065718699
|
|
NM_001042492.3(NF1):c.288+3A>T
|
rs2065718699
|
|
NM_001042492.3(NF1):c.288+4A>G
|
rs781459468
|
|
NM_001042492.3(NF1):c.288+4A>T
|
rs781459468
|
|
NM_001042492.3(NF1):c.288+594A>G
|
|
|
NM_001042492.3(NF1):c.288+5G>A
|
rs1555605409
|
|
NM_001042492.3(NF1):c.288+5G>C
|
rs1555605409
|
|
NM_001042492.3(NF1):c.288+5G>T
|
rs1555605409
|
|
NM_001042492.3(NF1):c.288+9A>G
|
rs1567816141
|
|
NM_001042492.3(NF1):c.2882T>A (p.Val961Glu)
|
|
|
NM_001042492.3(NF1):c.2882T>C (p.Val961Ala)
|
|
|
NM_001042492.3(NF1):c.2883A>G (p.Val961=)
|
rs2151430557
|
|
NM_001042492.3(NF1):c.2883del (p.Glu962fs)
|
rs2067083151
|
|
NM_001042492.3(NF1):c.2884G>T (p.Glu962Ter)
|
|
|
NM_001042492.3(NF1):c.2886_2897del (p.Glu962_Ala966delinsAsp)
|
rs1135402835
|
|
NM_001042492.3(NF1):c.2887C>G (p.Gln963Glu)
|
|
|
NM_001042492.3(NF1):c.2887C>T (p.Gln963Ter)
|
rs876660444
|
|
NM_001042492.3(NF1):c.2888A>C (p.Gln963Pro)
|
|
|
NM_001042492.3(NF1):c.288G>A (p.Gly96=)
|
rs1430988476
|
|
NM_001042492.3(NF1):c.288_288+2del
|
rs2143646778
|
|
NM_001042492.3(NF1):c.289-15T>C
|
|
|
NM_001042492.3(NF1):c.289-18T>C
|
|
|
NM_001042492.3(NF1):c.289-18T>G
|
rs2065791450
|
|
NM_001042492.3(NF1):c.289-19G>A
|
|
|
NM_001042492.3(NF1):c.289-1G>A
|
|
|
NM_001042492.3(NF1):c.289-22A>C
|
rs2143669668
|
|
NM_001042492.3(NF1):c.289-2A>G
|
rs2143670119
|
|
NM_001042492.3(NF1):c.289-4T>A
|
rs1258767746
|
|
NM_001042492.3(NF1):c.289-6T>C
|
rs757074803
|
|
NM_001042492.3(NF1):c.289-6T>G
|
rs757074803
|
|
NM_001042492.3(NF1):c.289-8T>A
|
rs2143669988
|
|
NM_001042492.3(NF1):c.289-9C>T
|
rs2143669962
|
|
NM_001042492.3(NF1):c.2890A>C (p.Thr964Pro)
|
|
|
NM_001042492.3(NF1):c.2890del (p.Thr964fs)
|
rs1555614437
|
|
NM_001042492.3(NF1):c.2891_2892delinsAG (p.Thr964Lys)
|
rs2067083355
|
|
NM_001042492.3(NF1):c.2892C>A (p.Thr964=)
|
rs2151430591
|
|
NM_001042492.3(NF1):c.2892C>G (p.Thr964=)
|
rs2151430591
|
|
NM_001042492.3(NF1):c.2894T>A (p.Ile965Lys)
|
rs1555614438
|
|
NM_001042492.3(NF1):c.2894T>G (p.Ile965Arg)
|
rs1555614438
|
|
NM_001042492.3(NF1):c.2894_2900del (p.Ile965fs)
|
rs2067083472
|
|
NM_001042492.3(NF1):c.2895A>C (p.Ile965=)
|
rs1597716325
|
|
NM_001042492.3(NF1):c.2895del (p.Ile965fs)
|
|
|
NM_001042492.3(NF1):c.2896G>A (p.Ala966Thr)
|
rs876658849
|
|
NM_001042492.3(NF1):c.2896G>T (p.Ala966Ser)
|
|
|
NM_001042492.3(NF1):c.2897C>A (p.Ala966Asp)
|
|
|
NM_001042492.3(NF1):c.2897C>G (p.Ala966Gly)
|
rs1567849533
|
|
NM_001042492.3(NF1):c.2899A>G (p.Ile967Val)
|
rs876660279
|
|
NM_001042492.3(NF1):c.2899dup (p.Ile967fs)
|
rs2151430620
|
|
NM_001042492.3(NF1):c.289C>T (p.Gln97Ter)
|
rs1597635615
|
|
NM_001042492.3(NF1):c.2900T>C (p.Ile967Thr)
|
rs1289091384
|
|
NM_001042492.3(NF1):c.2900dup (p.Met968fs)
|
rs2067083695
|
|
NM_001042492.3(NF1):c.2901A>G (p.Ile967Met)
|
rs2151430624
|
|
NM_001042492.3(NF1):c.2903T>A (p.Met968Lys)
|
rs199474749
|
|
NM_001042492.3(NF1):c.2903T>G (p.Met968Arg)
|
rs199474749
|
|
NM_001042492.3(NF1):c.2904G>A (p.Met968Ile)
|
rs1597716342
|
|
NM_001042492.3(NF1):c.2906del (p.Lys969fs)
|
|
|
NM_001042492.3(NF1):c.2908A>T (p.Asn970Tyr)
|
|
|
NM_001042492.3(NF1):c.2909A>G (p.Asn970Ser)
|
|
|
NM_001042492.3(NF1):c.2911T>C (p.Leu971=)
|
|
|
NM_001042492.3(NF1):c.2913G>A (p.Leu971=)
|
|
|
NM_001042492.3(NF1):c.2913dup (p.Leu972fs)
|
rs2151430647
|
|
NM_001042492.3(NF1):c.2914C>A (p.Leu972Ile)
|
rs2067083880
|
|
NM_001042492.3(NF1):c.2914C>T (p.Leu972=)
|
rs2067083880
|
|
NM_001042492.3(NF1):c.2915T>A (p.Leu972Gln)
|
rs1597716348
|
|
NM_001042492.3(NF1):c.2915T>C (p.Leu972Pro)
|
rs1597716348
|
|
NM_001042492.3(NF1):c.2917G>A (p.Asp973Asn)
|
rs2151430652
|
|
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.2921dup (p.Asn974fs)
|
rs2151430666
|
|
NM_001042492.3(NF1):c.2923C>A (p.His975Asn)
|
rs2151430673
|
|
NM_001042492.3(NF1):c.2923C>T (p.His975Tyr)
|
|
|
NM_001042492.3(NF1):c.2924A>G (p.His975Arg)
|
|
|
NM_001042492.3(NF1):c.2925T>C (p.His975=)
|
|
|
NM_001042492.3(NF1):c.2927C>G (p.Thr976Ser)
|
rs755404523
|
|
NM_001042492.3(NF1):c.2928T>C (p.Thr976=)
|
rs1555614446
|
|
NM_001042492.3(NF1):c.2929G>A (p.Glu977Lys)
|
|
|
NM_001042492.3(NF1):c.2929G>T (p.Glu977Ter)
|
rs2151430686
|
|
NM_001042492.3(NF1):c.292C>A (p.Pro98Thr)
|
|
|
NM_001042492.3(NF1):c.2931A>G (p.Glu977=)
|
rs1555614447
|
|
NM_001042492.3(NF1):c.2932G>A (p.Gly978Ser)
|
rs1597716367
|
|
NM_001042492.3(NF1):c.2932G>T (p.Gly978Cys)
|
rs1597716367
|
|
NM_001042492.3(NF1):c.2933G>C (p.Gly978Ala)
|
|
|
NM_001042492.3(NF1):c.2935A>G (p.Ser979Gly)
|
rs2067084249
|
|
NM_001042492.3(NF1):c.2935del (p.Ser979fs)
|
rs2151430702
|
|
NM_001042492.3(NF1):c.2936G>A (p.Ser979Asn)
|
rs2151430704
|
|
NM_001042492.3(NF1):c.2937C>T (p.Ser979=)
|
rs2151430707
|
|
NM_001042492.3(NF1):c.2939C>T (p.Ser980Phe)
|
rs2067084275
|
|
NM_001042492.3(NF1):c.293C>A (p.Pro98Gln)
|
rs780979519
|
|
NM_001042492.3(NF1):c.293C>G (p.Pro98Arg)
|
|
|
NM_001042492.3(NF1):c.293C>T (p.Pro98Leu)
|
|
|
NM_001042492.3(NF1):c.2940T>G (p.Ser980=)
|
|
|
NM_001042492.3(NF1):c.2940del (p.Glu981fs)
|
rs2067084312
|
|
NM_001042492.3(NF1):c.2942A>G (p.Glu981Gly)
|
rs2067084366
|
|
NM_001042492.3(NF1):c.2944del (p.His982fs)
|
rs2151430726
|
|
NM_001042492.3(NF1):c.2946T>C (p.His982=)
|
|
|
NM_001042492.3(NF1):c.2947_2948del (p.Leu983fs)
|
rs1597716378
|
|
NM_001042492.3(NF1):c.2948del (p.Leu983fs)
|
rs2067084444
|
|
NM_001042492.3(NF1):c.2949A>G (p.Leu983=)
|
rs1555614452
|
|
NM_001042492.3(NF1):c.2951G>A (p.Gly984Glu)
|
|
|
NM_001042492.3(NF1):c.2953C>T (p.Gln985Ter)
|
rs1555614455
|
|
NM_001042492.3(NF1):c.2954A>T (p.Gln985Leu)
|
rs1567849565
|
|
NM_001042492.3(NF1):c.2955A>G (p.Gln985=)
|
|
|
NM_001042492.3(NF1):c.2956_2967del (p.Ala986_Glu989del)
|
|
|
NM_001042492.3(NF1):c.2957C>T (p.Ala986Val)
|
rs876659417
|
|
NM_001042492.3(NF1):c.2957del (p.Ala986fs)
|
rs2151430768
|
|
NM_001042492.3(NF1):c.295A>C (p.Lys99Gln)
|
|
|
NM_001042492.3(NF1):c.295A>G (p.Lys99Glu)
|
|
|
NM_001042492.3(NF1):c.295A>T (p.Lys99Ter)
|
rs2065791967
|
|
NM_001042492.3(NF1):c.2960G>A (p.Ser987Asn)
|
rs1060500329
|
|
NM_001042492.3(NF1):c.2962A>G (p.Ile988Val)
|
rs587781936
|
|
NM_001042492.3(NF1):c.2964del (p.Ile988fs)
|
rs2067084803
|
|
NM_001042492.3(NF1):c.2966A>T (p.Glu989Val)
|
|
|
NM_001042492.3(NF1):c.2967A>G (p.Glu989=)
|
|
|
NM_001042492.3(NF1):c.2969_2970dup (p.Met991fs)
|
rs1555614458
|
|
NM_001042492.3(NF1):c.296A>G (p.Lys99Arg)
|
|
|
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.2972T>C (p.Met991Thr)
|
rs1060500298
|
|
NM_001042492.3(NF1):c.2972T>G (p.Met991Arg)
|
rs1060500298
|
|
NM_001042492.3(NF1):c.2975T>A (p.Met992Lys)
|
rs1567849596
|
|
NM_001042492.3(NF1):c.2977T>C (p.Leu993=)
|
rs1597716461
|
|
NM_001042492.3(NF1):c.2978T>A (p.Leu993Ter)
|
rs1555614460
|
|
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.2981A>G (p.Asn994Ser)
|
rs2067085209
|
|
NM_001042492.3(NF1):c.2981del (p.Asn994fs)
|
|
|
NM_001042492.3(NF1):c.2984T>C (p.Leu995Pro)
|
rs1597716466
|
|
NM_001042492.3(NF1):c.2984T>G (p.Leu995Arg)
|
rs1597716466
|
|
NM_001042492.3(NF1):c.2985G>A (p.Leu995=)
|
rs17881467
|
|
NM_001042492.3(NF1):c.2986G>T (p.Val996Phe)
|
rs2151430840
|
|
NM_001042492.3(NF1):c.2986_2987del (p.Val996fs)
|
rs2151430843
|
|
NM_001042492.3(NF1):c.2987T>A (p.Val996Asp)
|
|
|
NM_001042492.3(NF1):c.2989A>G (p.Arg997Gly)
|
rs2067085335
|
|
NM_001042492.3(NF1):c.2989A>T (p.Arg997Trp)
|
rs2067085335
|
|
NM_001042492.3(NF1):c.298G>A (p.Asp100Asn)
|
|
|
NM_001042492.3(NF1):c.298del (p.Asp100fs)
|
rs1567817841
|
|
NM_001042492.3(NF1):c.2990+12A>G
|
rs543543885
|
|
NM_001042492.3(NF1):c.2990+13C>G
|
|
|
NM_001042492.3(NF1):c.2990+13C>T
|
|
|
NM_001042492.3(NF1):c.2990+19T>C
|
|
|
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+1del
|
|
|
NM_001042492.3(NF1):c.2990+2T>C
|
rs2151430861
|
|
NM_001042492.3(NF1):c.2990+3A>T
|
rs1597716487
|
|
NM_001042492.3(NF1):c.2990+3_2990+13del
|
|
|
NM_001042492.3(NF1):c.2990+4_2990+7dup
|
|
|
NM_001042492.3(NF1):c.2990+5G>A
|
rs1555614464
|
|
NM_001042492.3(NF1):c.2990+7A>C
|
rs1555614465
|
|
NM_001042492.3(NF1):c.2990+7A>G
|
rs1555614465
|
|
NM_001042492.3(NF1):c.2990+7A>T
|
rs1555614465
|
|
NM_001042492.3(NF1):c.2990+9T>C
|
|
|
NM_001042492.3(NF1):c.2990G>A (p.Arg997Lys)
|
rs1555614462
|
|
NM_001042492.3(NF1):c.2990G>C (p.Arg997Thr)
|
rs1555614462
|
|
NM_001042492.3(NF1):c.2990G>T (p.Arg997Met)
|
rs1555614462
|
|
NM_001042492.3(NF1):c.2991-10G>A
|
|
|
NM_001042492.3(NF1):c.2991-10G>T
|
|
|
NM_001042492.3(NF1):c.2991-11T>G
|
|
|
NM_001042492.3(NF1):c.2991-11del
|
rs1597716765
|
|
NM_001042492.3(NF1):c.2991-12A>C
|
rs760838737
|
|
NM_001042492.3(NF1):c.2991-12A>T
|
|
|
NM_001042492.3(NF1):c.2991-14C>G
|
|
|
NM_001042492.3(NF1):c.2991-14C>T
|
rs2067089474
|
|
NM_001042492.3(NF1):c.2991-18G>C
|
rs2067089429
|
|
NM_001042492.3(NF1):c.2991-18G>T
|
|
|
NM_001042492.3(NF1):c.2991-19T>C
|
|
|
NM_001042492.3(NF1):c.2991-1G>A
|
rs1060500273
|
|
NM_001042492.3(NF1):c.2991-1G>C
|
rs1060500273
|
|
NM_001042492.3(NF1):c.2991-1G>T
|
rs1060500273
|
|
NM_001042492.3(NF1):c.2991-20T>A
|
|
|
NM_001042492.3(NF1):c.2991-20T>C
|
rs374614629
|
|
NM_001042492.3(NF1):c.2991-2A>C
|
rs1555614495
|
|
NM_001042492.3(NF1):c.2991-2A>G
|
rs1555614495
|
|
NM_001042492.3(NF1):c.2991-2A>T
|
rs1555614495
|
|
NM_001042492.3(NF1):c.2991-3T>G
|
rs1597716778
|
|
NM_001042492.3(NF1):c.2991-7T>C
|
|
|
NM_001042492.3(NF1):c.2991-8C>T
|
rs2067089793
|
|
NM_001042492.3(NF1):c.2991-8_2996del
|
|
|
NM_001042492.3(NF1):c.2991-8_3000del
|
rs2067089729
|
|
NM_001042492.3(NF1):c.2991G>C (p.Arg997Ser)
|
rs755501749
|
|
NM_001042492.3(NF1):c.2991G>T (p.Arg997Ser)
|
rs755501749
|
|
NM_001042492.3(NF1):c.2992T>A (p.Tyr998Asn)
|
|
|
NM_001042492.3(NF1):c.2992T>G (p.Tyr998Asp)
|
|
|
NM_001042492.3(NF1):c.2993A>C (p.Tyr998Ser)
|
rs1555614496
|
|
NM_001042492.3(NF1):c.2993A>G (p.Tyr998Cys)
|
rs1555614496
|
|
NM_001042492.3(NF1):c.2993A>T (p.Tyr998Phe)
|
|
|
NM_001042492.3(NF1):c.2993dup (p.Tyr998Ter)
|
rs2151431474
|
|
NM_001042492.3(NF1):c.2994T>A (p.Tyr998Ter)
|
|
|
NM_001042492.3(NF1):c.2994T>C (p.Tyr998=)
|
rs1188437940
|
|
NM_001042492.3(NF1):c.2994T>G (p.Tyr998Ter)
|
|
|
NM_001042492.3(NF1):c.2998C>A (p.Arg1000Ser)
|
|
|
NM_001042492.3(NF1):c.2998_2999del (p.Arg1000fs)
|
rs1597716817
|
|
NM_001042492.3(NF1):c.2999G>C (p.Arg1000Pro)
|
rs753082620
|
|
NM_001042492.3(NF1):c.2999G>T (p.Arg1000Leu)
|
rs753082620
|
|
NM_001042492.3(NF1):c.3003G>A (p.Val1001=)
|
rs2151431493
|
|
NM_001042492.3(NF1):c.3003G>T (p.Val1001=)
|
|
|
NM_001042492.3(NF1):c.3004C>G (p.Leu1002Val)
|
rs2151431496
|
|
NM_001042492.3(NF1):c.3005T>C (p.Leu1002Pro)
|
|
|
NM_001042492.3(NF1):c.3006T>C (p.Leu1002=)
|
rs2151431504
|
|
NM_001042492.3(NF1):c.3006dup (p.Gly1003fs)
|
rs2151431501
|
|
NM_001042492.3(NF1):c.3007_3020del (p.Gly1003fs)
|
rs2067090473
|
|
NM_001042492.3(NF1):c.3008G>A (p.Gly1003Glu)
|
rs2151431510
|
|
NM_001042492.3(NF1):c.3009G>A (p.Gly1003=)
|
rs780895334
|
|
NM_001042492.3(NF1):c.3009_3018del (p.Asn1004fs)
|
rs2067090561
|
|
NM_001042492.3(NF1):c.3014T>C (p.Met1005Thr)
|
rs1555614504
|
|
NM_001042492.3(NF1):c.3016G>A (p.Val1006Ile)
|
rs1060500383
|
|
NM_001042492.3(NF1):c.3016del (p.Val1006fs)
|
|
|
NM_001042492.3(NF1):c.3017T>C (p.Val1006Ala)
|
rs755636107
|
|
NM_001042492.3(NF1):c.3018C>T (p.Val1006=)
|
|
|
NM_001042492.3(NF1):c.3019C>T (p.His1007Tyr)
|
|
|
NM_001042492.3(NF1):c.3019del (p.His1007fs)
|
|
|
NM_001042492.3(NF1):c.3025A>G (p.Ile1009Val)
|
rs1597716866
|
|
NM_001042492.3(NF1):c.3027T>G (p.Ile1009Met)
|
rs2151431556
|
|
NM_001042492.3(NF1):c.3027del (p.Gln1010fs)
|
rs1135402837
|
|
NM_001042492.3(NF1):c.3028C>A (p.Gln1010Lys)
|
|
|
NM_001042492.3(NF1):c.3028C>T (p.Gln1010Ter)
|
rs2151431557
|
|
NM_001042492.3(NF1):c.302C>A (p.Thr101Lys)
|
|
|
NM_001042492.3(NF1):c.302C>T (p.Thr101Ile)
|
|
|
NM_001042492.3(NF1):c.3030A>G (p.Gln1010=)
|
rs1405071456
|
|
NM_001042492.3(NF1):c.3032_3033del (p.Ile1011fs)
|
rs2151431569
|
|
NM_001042492.3(NF1):c.3033A>G (p.Ile1011Met)
|
rs2151431575
|
|
NM_001042492.3(NF1):c.3034A>T (p.Lys1012Ter)
|
rs2067091045
|
|
NM_001042492.3(NF1):c.3037A>C (p.Thr1013Pro)
|
rs1597716888
|
|
NM_001042492.3(NF1):c.3037del (p.Thr1013fs)
|
rs1135402838
|
|
NM_001042492.3(NF1):c.3038C>G (p.Thr1013Arg)
|
rs786203132
|
|
NM_001042492.3(NF1):c.303A>G (p.Thr101=)
|
rs1597635650
|
|
NM_001042492.3(NF1):c.3040A>G (p.Lys1014Glu)
|
rs1135402839
|
|
NM_001042492.3(NF1):c.3040A>T (p.Lys1014Ter)
|
rs1135402839
|
|
NM_001042492.3(NF1):c.3042del (p.Lys1014fs)
|
|
|
NM_001042492.3(NF1):c.3043del (p.Leu1015fs)
|
rs1555614514
|
|
NM_001042492.3(NF1):c.3044T>C (p.Leu1015Pro)
|
rs1131691112
|
|
NM_001042492.3(NF1):c.3044T>G (p.Leu1015Arg)
|
rs1131691112
|
|
NM_001042492.3(NF1):c.3045G>C (p.Leu1015=)
|
rs926335233
|
|
NM_001042492.3(NF1):c.3046T>C (p.Cys1016Arg)
|
rs878853880
|
|
NM_001042492.3(NF1):c.3046dup (p.Cys1016fs)
|
rs2151431612
|
|
NM_001042492.3(NF1):c.3047G>A (p.Cys1016Tyr)
|
rs2067091492
|
|
NM_001042492.3(NF1):c.3047G>T (p.Cys1016Phe)
|
rs2067091492
|
|
NM_001042492.3(NF1):c.3047_3048del (p.Cys1016fs)
|
rs1597716910
|
|
NM_001042492.3(NF1):c.3047_3048insGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTACCTCCACGGTCTCCCTCTGATGCCGAGCCANNNNNNNNNNAGAAACACCCAAGAATGATCAATAAAAAAAAAATAAATTAATTAAAAAAAAAAAAAAAAAAAAAAAAAACGAAACTGTG (p.Cys1016delinsTrpLeuSerLeuSerLeuSerLeuSerLeuSerLeuSerLeuProLeuProLeuProLeuProLeuProLeuProProArgSerProSerAspAlaGluProXaaXaaXaaXaaLysHisProArgMetIleAsnLysLysLysIleAsnTer)
|
|
|
NM_001042492.3(NF1):c.3048T>A (p.Cys1016Ter)
|
rs1135402840
|
|
NM_001042492.3(NF1):c.3048T>G (p.Cys1016Trp)
|
rs1135402840
|
|
NM_001042492.3(NF1):c.3049C>T (p.Gln1017Ter)
|
rs2067091604
|
|
NM_001042492.3(NF1):c.304del (p.Thr101_Met102insTer)
|
|
|
NM_001042492.3(NF1):c.3050A>G (p.Gln1017Arg)
|
|
|
NM_001042492.3(NF1):c.3051A>C (p.Gln1017His)
|
rs201891488
|
|
NM_001042492.3(NF1):c.3051A>G (p.Gln1017=)
|
rs201891488
|
|
NM_001042492.3(NF1):c.3051del (p.Gln1017fs)
|
rs2067091646
|
|
NM_001042492.3(NF1):c.3053T>A (p.Leu1018Ter)
|
rs1597716924
|
|
NM_001042492.3(NF1):c.3053T>G (p.Leu1018Ter)
|
|
|
NM_001042492.3(NF1):c.3054A>C (p.Leu1018Phe)
|
rs1237938582
|
|
NM_001042492.3(NF1):c.3054del (p.Val1019fs)
|
|
|
NM_001042492.3(NF1):c.3055G>A (p.Val1019Ile)
|
rs1567849826
|
|
NM_001042492.3(NF1):c.3056T>C (p.Val1019Ala)
|
rs1555614520
|
|
NM_001042492.3(NF1):c.3058G>T (p.Glu1020Ter)
|
rs2067091885
|
|
NM_001042492.3(NF1):c.3058_3085dup (p.Leu1029delinsArgSerAsnAspGlyLysGluArgTer)
|
|
|
NM_001042492.3(NF1):c.3058del (p.Glu1020fs)
|
rs2067091912
|
|
NM_001042492.3(NF1):c.3059A>C (p.Glu1020Ala)
|
|
|
NM_001042492.3(NF1):c.3060del (p.Glu1020_Val1021insTer)
|
rs1555614521
|
|
NM_001042492.3(NF1):c.3063A>T (p.Val1021=)
|
|
|
NM_001042492.3(NF1):c.3063_3065del (p.Met1023del)
|
rs2151431646
|
|
NM_001042492.3(NF1):c.3063_3067dup (p.Met1023delinsLysTer)
|
rs2067092112
|
|
NM_001042492.3(NF1):c.3064A>G (p.Met1022Val)
|
rs2067092180
|
|
NM_001042492.3(NF1):c.3064del (p.Val1021_Met1022insTer)
|
rs878853881
|
|
NM_001042492.3(NF1):c.3065T>A (p.Met1022Lys)
|
|
|
NM_001042492.3(NF1):c.3065_3073dup (p.Met1022_Ala1024dup)
|
rs1567849843
|
|
NM_001042492.3(NF1):c.3068dup (p.Met1023fs)
|
|
|
NM_001042492.3(NF1):c.3069G>A (p.Met1023Ile)
|
rs2151431668
|
|
NM_001042492.3(NF1):c.306G>A (p.Met102Ile)
|
rs2143670540
|
|
NM_001042492.3(NF1):c.3071C>T (p.Ala1024Val)
|
rs1555614525
|
|
NM_001042492.3(NF1):c.3072A>C (p.Ala1024=)
|
rs2151431674
|
|
NM_001042492.3(NF1):c.3073A>G (p.Arg1025Gly)
|
|
|
NM_001042492.3(NF1):c.3073del (p.Arg1025fs)
|
rs2151431675
|
|
NM_001042492.3(NF1):c.3074G>A (p.Arg1025Lys)
|
rs876659876
|
|
NM_001042492.3(NF1):c.3075del (p.Arg1026fs)
|
rs1555614526
|
|
NM_001042492.3(NF1):c.3076A>T (p.Arg1026Ter)
|
rs1555614529
|
|
NM_001042492.3(NF1):c.3078A>C (p.Arg1026Ser)
|
rs1597716965
|
|
NM_001042492.3(NF1):c.307A>T (p.Arg103Ter)
|
|
|
NM_001042492.3(NF1):c.3080A>G (p.Asp1027Gly)
|
rs2151431688
|
|
NM_001042492.3(NF1):c.3081T>C (p.Asp1027=)
|
rs1555614532
|
|
NM_001042492.3(NF1):c.3081_3083dup (p.Asp1028_Leu1029insAsp)
|
|
|
NM_001042492.3(NF1):c.3082_3083delinsTT (p.Asp1028Phe)
|
|
|
NM_001042492.3(NF1):c.3082_3086del (p.Asp1028fs)
|
rs2151431696
|
|
NM_001042492.3(NF1):c.3082_3088del (p.Asp1028fs)
|
|
|
NM_001042492.3(NF1):c.3083A>G (p.Asp1028Gly)
|
|
|
NM_001042492.3(NF1):c.3084C>T (p.Asp1028=)
|
rs1235103530
|
|
NM_001042492.3(NF1):c.3085C>T (p.Leu1029Phe)
|
rs1597716976
|
|
NM_001042492.3(NF1):c.3086T>C (p.Leu1029Pro)
|
rs2067092609
|
|
NM_001042492.3(NF1):c.3088_3089del (p.Ser1030fs)
|
rs2067092561
|
|
NM_001042492.3(NF1):c.3088_3089dup (p.Phe1031fs)
|
rs2067092561
|
|
NM_001042492.3(NF1):c.3089C>A (p.Ser1030Ter)
|
|
|
NM_001042492.3(NF1):c.3089C>G (p.Ser1030Ter)
|
rs1567849864
|
|
NM_001042492.3(NF1):c.3089C>T (p.Ser1030Leu)
|
|
|
NM_001042492.3(NF1):c.3090A>G (p.Ser1030=)
|
|
|
NM_001042492.3(NF1):c.3093T>C (p.Phe1031=)
|
rs2067092711
|
|
NM_001042492.3(NF1):c.3094del (p.Cys1032fs)
|
rs1555614535
|
|
NM_001042492.3(NF1):c.3094dup (p.Cys1032fs)
|
rs1555614535
|
|
NM_001042492.3(NF1):c.3095G>C (p.Cys1032Ser)
|
rs2151431724
|
|
NM_001042492.3(NF1):c.3096C>A (p.Cys1032Ter)
|
rs747965344
|
|
NM_001042492.3(NF1):c.3096C>T (p.Cys1032=)
|
|
|
NM_001042492.3(NF1):c.3097C>G (p.Gln1033Glu)
|
|
|
NM_001042492.3(NF1):c.3097C>T (p.Gln1033Ter)
|
rs1131691104
|
|
NM_001042492.3(NF1):c.3097del (p.Gln1033fs)
|
|
|
NM_001042492.3(NF1):c.3098_3113del (p.Gln1033fs)
|
|
|
NM_001042492.3(NF1):c.3099A>G (p.Gln1033=)
|
rs2067092832
|
|
NM_001042492.3(NF1):c.309A>G (p.Arg103=)
|
|
|
NM_001042492.3(NF1):c.309A>T (p.Arg103Ser)
|
rs1225112706
|
|
NM_001042492.3(NF1):c.3102G>A (p.Glu1034=)
|
rs1555614536
|
|
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.3104T>G (p.Met1035Arg)
|
rs137854553
|
|
NM_001042492.3(NF1):c.3104del (p.Met1035fs)
|
rs2151431751
|
|
NM_001042492.3(NF1):c.3105G>A (p.Met1035Ile)
|
|
|
NM_001042492.3(NF1):c.3106A>C (p.Lys1036Gln)
|
|
|
NM_001042492.3(NF1):c.3106A>T (p.Lys1036Ter)
|
rs1567849891
|
|
NM_001042492.3(NF1):c.3107A>C (p.Lys1036Thr)
|
rs1555614540
|
|
NM_001042492.3(NF1):c.3107A>G (p.Lys1036Arg)
|
rs1555614540
|
|
NM_001042492.3(NF1):c.3108A>G (p.Lys1036=)
|
|
|
NM_001042492.3(NF1):c.3108del (p.Lys1036fs)
|
|
|
NM_001042492.3(NF1):c.310T>C (p.Leu104=)
|
|
|
NM_001042492.3(NF1):c.3111del (p.Phe1037fs)
|
rs1131691127
|
|
NM_001042492.3(NF1):c.3111dup (p.Arg1038Ter)
|
rs1131691127
|
|
NM_001042492.3(NF1):c.3112A>G (p.Arg1038Gly)
|
rs1597717017
|
|
NM_001042492.3(NF1):c.3112A>T (p.Arg1038Trp)
|
rs1597717017
|
|
NM_001042492.3(NF1):c.3113+11A>G
|
rs1412794676
|
|
NM_001042492.3(NF1):c.3113+12A>G
|
rs1473649252
|
|
NM_001042492.3(NF1):c.3113+14A>G
|
|
|
NM_001042492.3(NF1):c.3113+15G>C
|
|
|
NM_001042492.3(NF1):c.3113+17G>A
|
|
|
NM_001042492.3(NF1):c.3113+18C>T
|
|
|
NM_001042492.3(NF1):c.3113+19A>C
|
rs2067093540
|
|
NM_001042492.3(NF1):c.3113+1G>A
|
rs267606599
|
|
NM_001042492.3(NF1):c.3113+1G>C
|
rs267606599
|
|
NM_001042492.3(NF1):c.3113+1G>T
|
rs267606599
|
|
NM_001042492.3(NF1):c.3113+20A>G
|
rs766592735
|
|
NM_001042492.3(NF1):c.3113+2T>A
|
rs876658997
|
|
NM_001042492.3(NF1):c.3113+2T>C
|
rs876658997
|
|
NM_001042492.3(NF1):c.3113+2T>G
|
rs876658997
|
|
NM_001042492.3(NF1):c.3113+2_3113+4del
|
rs2151431779
|
|
NM_001042492.3(NF1):c.3113+2del
|
|
|
NM_001042492.3(NF1):c.3113+2dup
|
|
|
NM_001042492.3(NF1):c.3113+5G>A
|
rs1555614549
|
|
NM_001042492.3(NF1):c.3113+5G>C
|
rs1555614549
|
|
NM_001042492.3(NF1):c.3113+5G>T
|
|
|
NM_001042492.3(NF1):c.3113+8C>A
|
|
|
NM_001042492.3(NF1):c.3113+8C>G
|
|
|
NM_001042492.3(NF1):c.3113G>A (p.Arg1038Lys)
|
|
|
NM_001042492.3(NF1):c.3113G>C (p.Arg1038Thr)
|
rs1060500313
|
|
NM_001042492.3(NF1):c.3113G>T (p.Arg1038Met)
|
rs1060500313
|
|
NM_001042492.3(NF1):c.3114-10C>T
|
rs2151432319
|
|
NM_001042492.3(NF1):c.3114-11C>G
|
rs2151432318
|
|
NM_001042492.3(NF1):c.3114-13C>T
|
|
|
NM_001042492.3(NF1):c.3114-14C>G
|
|
|
NM_001042492.3(NF1):c.3114-14C>T
|
|
|
NM_001042492.3(NF1):c.3114-16C>G
|
|
|
NM_001042492.3(NF1):c.3114-1G>A
|
rs1555614611
|
|
NM_001042492.3(NF1):c.3114-1G>C
|
rs1555614611
|
|
NM_001042492.3(NF1):c.3114-1G>T
|
|
|
NM_001042492.3(NF1):c.3114-2A>G
|
rs1428885377
|
|
NM_001042492.3(NF1):c.3114-3T>C
|
rs773097190
|
|
NM_001042492.3(NF1):c.3114-3T>G
|
rs773097190
|
|
NM_001042492.3(NF1):c.3114-4A>C
|
rs201550230
|
|
NM_001042492.3(NF1):c.3114-4A>T
|
rs201550230
|
|
NM_001042492.3(NF1):c.3114-6C>T
|
|
|
NM_001042492.3(NF1):c.3114-7T>G
|
rs754931967
|
|
NM_001042492.3(NF1):c.3114-8T>G
|
rs1597717471
|
|
NM_001042492.3(NF1):c.3114-9A>G
|
|
|
NM_001042492.3(NF1):c.3114-9A>T
|
|
|
NM_001042492.3(NF1):c.3114G>C (p.Arg1038Ser)
|
rs1555614616
|
|
NM_001042492.3(NF1):c.3117_3128dup (p.Val1042_Glu1043insAspLysMetVal)
|
|
|
NM_001042492.3(NF1):c.3118A>G (p.Lys1040Glu)
|
rs1555614619
|
|
NM_001042492.3(NF1):c.3119A>C (p.Lys1040Thr)
|
|
|
NM_001042492.3(NF1):c.3119A>G (p.Lys1040Arg)
|
rs2067101256
|
|
NM_001042492.3(NF1):c.311T>G (p.Leu104Ter)
|
rs1057521097
|
|
NM_001042492.3(NF1):c.311_312del (p.Arg103_Leu104insTer)
|
rs1555606053
|
|
NM_001042492.3(NF1):c.3120G>A (p.Lys1040=)
|
|
|
NM_001042492.3(NF1):c.3121A>C (p.Met1041Leu)
|
|
|
NM_001042492.3(NF1):c.3121A>G (p.Met1041Val)
|
|
|
NM_001042492.3(NF1):c.3122T>A (p.Met1041Lys)
|
rs2151432359
|
|
NM_001042492.3(NF1):c.3122dup (p.Met1041fs)
|
rs2151432363
|
|
NM_001042492.3(NF1):c.3124del (p.Met1041_Val1042insTer)
|
rs1555614624
|
|
NM_001042492.3(NF1):c.3126A>G (p.Val1042=)
|
rs2151432376
|
|
NM_001042492.3(NF1):c.3129A>C (p.Glu1043Asp)
|
rs1597717530
|
|
NM_001042492.3(NF1):c.3129A>G (p.Glu1043=)
|
rs1597717530
|
|
NM_001042492.3(NF1):c.312del (p.Asp105fs)
|
|
|
NM_001042492.3(NF1):c.3130T>C (p.Tyr1044His)
|
|
|
NM_001042492.3(NF1):c.3130_3131insC (p.Tyr1044fs)
|
|
|
NM_001042492.3(NF1):c.3131A>G (p.Tyr1044Cys)
|
rs747274278
|
|
NM_001042492.3(NF1):c.3131dup (p.Tyr1044Ter)
|
|
|
NM_001042492.3(NF1):c.3132C>A (p.Tyr1044Ter)
|
rs779047683
|
|
NM_001042492.3(NF1):c.3133C>T (p.Leu1045=)
|
rs1555614626
|
|
NM_001042492.3(NF1):c.3133del (p.Tyr1044_Leu1045insTer)
|
|
|
NM_001042492.3(NF1):c.3134T>C (p.Leu1045Pro)
|
rs1567850142
|
|
NM_001042492.3(NF1):c.3137C>G (p.Thr1046Arg)
|
rs2151432404
|
|
NM_001042492.3(NF1):c.3138A>G (p.Thr1046=)
|
rs2151432405
|
|
NM_001042492.3(NF1):c.3138_3141del (p.Asp1047fs)
|
|
|
NM_001042492.3(NF1):c.3139_3140del (p.Asp1047fs)
|
rs863224490
|
|
NM_001042492.3(NF1):c.3140A>G (p.Asp1047Gly)
|
rs1555614631
|
|
NM_001042492.3(NF1):c.3140A>T (p.Asp1047Val)
|
rs1555614631
|
|
NM_001042492.3(NF1):c.3140_3142dup (p.Asp1047_Trp1048insTyr)
|
rs2067101647
|
|
NM_001042492.3(NF1):c.3141del (p.Trp1048fs)
|
rs2151432416
|
|
NM_001042492.3(NF1):c.3142T>C (p.Trp1048Arg)
|
rs1555614634
|
|
NM_001042492.3(NF1):c.3142T>G (p.Trp1048Gly)
|
rs1555614634
|
|
NM_001042492.3(NF1):c.3143G>A (p.Trp1048Ter)
|
rs2151432418
|
|
NM_001042492.3(NF1):c.3144G>A (p.Trp1048Ter)
|
rs1555614635
|
|
NM_001042492.3(NF1):c.3145G>A (p.Val1049Ile)
|
rs1060500343
|
|
NM_001042492.3(NF1):c.3145G>T (p.Val1049Phe)
|
|
|
NM_001042492.3(NF1):c.3145del (p.Val1049fs)
|
|
|
NM_001042492.3(NF1):c.3148A>G (p.Met1050Val)
|
rs2067101757
|
|
NM_001042492.3(NF1):c.3149T>A (p.Met1050Lys)
|
rs1597717585
|
|
NM_001042492.3(NF1):c.3149T>C (p.Met1050Thr)
|
|
|
NM_001042492.3(NF1):c.3150G>A (p.Met1050Ile)
|
rs1555614639
|
|
NM_001042492.3(NF1):c.3151G>C (p.Gly1051Arg)
|
|
|
NM_001042492.3(NF1):c.3151G>T (p.Gly1051Ter)
|
rs2067101855
|
|
NM_001042492.3(NF1):c.3151_3152del (p.Gly1051fs)
|
|
|
NM_001042492.3(NF1):c.3152del (p.Gly1051fs)
|
rs2151432442
|
|
NM_001042492.3(NF1):c.3154A>G (p.Thr1052Ala)
|
rs1597717598
|
|
NM_001042492.3(NF1):c.3155C>T (p.Thr1052Ile)
|
rs2067101916
|
|
NM_001042492.3(NF1):c.3156A>C (p.Thr1052=)
|
|
|
NM_001042492.3(NF1):c.3156A>G (p.Thr1052=)
|
rs1597717604
|
|
NM_001042492.3(NF1):c.3158C>A (p.Ser1053Ter)
|
rs1597717610
|
|
NM_001042492.3(NF1):c.3158C>G (p.Ser1053Ter)
|
rs1597717610
|
|
NM_001042492.3(NF1):c.3161_3165del (p.Asn1054fs)
|
rs1555614642
|
|
NM_001042492.3(NF1):c.3162C>G (p.Asn1054Lys)
|
|
|
NM_001042492.3(NF1):c.3162C>T (p.Asn1054=)
|
rs2151432466
|
|
NM_001042492.3(NF1):c.3163C>G (p.Gln1055Glu)
|
rs866069972
|
|
NM_001042492.3(NF1):c.3163C>T (p.Gln1055Ter)
|
rs866069972
|
|
NM_001042492.3(NF1):c.3163_3164insTCCAAACC (p.Gln1055fs)
|
|
|
NM_001042492.3(NF1):c.3165A>G (p.Gln1055=)
|
|
|
NM_001042492.3(NF1):c.3167C>T (p.Ala1056Val)
|
rs759655189
|
|
NM_001042492.3(NF1):c.3168A>G (p.Ala1056=)
|
rs2067102179
|
|
NM_001042492.3(NF1):c.3169G>A (p.Ala1057Thr)
|
rs1367746167
|
|
NM_001042492.3(NF1):c.3169G>T (p.Ala1057Ser)
|
rs1367746167
|
|
NM_001042492.3(NF1):c.316G>T (p.Glu106Ter)
|
|
|
NM_001042492.3(NF1):c.316del (p.Glu106fs)
|
rs2143670786
|
|
NM_001042492.3(NF1):c.3170C>A (p.Ala1057Glu)
|
rs2151432494
|
|
NM_001042492.3(NF1):c.3171A>G (p.Ala1057=)
|
rs2067102269
|
|
NM_001042492.3(NF1):c.3172G>A (p.Asp1058Asn)
|
rs1597717634
|
|
NM_001042492.3(NF1):c.3173A>G (p.Asp1058Gly)
|
rs1387858614
|
|
NM_001042492.3(NF1):c.3173_3174delinsCA (p.Asp1058Ala)
|
rs2067102400
|
|
NM_001042492.3(NF1):c.3176A>G (p.Asp1059Gly)
|
rs1597717658
|
|
NM_001042492.3(NF1):c.3176A>T (p.Asp1059Val)
|
rs1597717658
|
|
NM_001042492.3(NF1):c.3177T>G (p.Asp1059Glu)
|
|
|
NM_001042492.3(NF1):c.3179A>G (p.Asp1060Gly)
|
rs1597717664
|
|
NM_001042492.3(NF1):c.3179A>T (p.Asp1060Val)
|
rs1597717664
|
|
NM_001042492.3(NF1):c.317A>C (p.Glu106Ala)
|
|
|
NM_001042492.3(NF1):c.3180T>C (p.Asp1060=)
|
rs1555614646
|
|
NM_001042492.3(NF1):c.3180T>G (p.Asp1060Glu)
|
rs1555614646
|
|
NM_001042492.3(NF1):c.3182T>C (p.Val1061Ala)
|
|
|
NM_001042492.3(NF1):c.3183A>G (p.Val1061=)
|
rs2151432519
|
|
NM_001042492.3(NF1):c.3184A>G (p.Lys1062Glu)
|
rs2151432521
|
|
NM_001042492.3(NF1):c.3185A>G (p.Lys1062Arg)
|
|
|
NM_001042492.3(NF1):c.3185A>T (p.Lys1062Ile)
|
rs1314168961
|
|
NM_001042492.3(NF1):c.3186A>G (p.Lys1062=)
|
rs2151432524
|
|
NM_001042492.3(NF1):c.3186del (p.Lys1062fs)
|
rs1597717672
|
|
NM_001042492.3(NF1):c.3186dup (p.Cys1063fs)
|
rs1597717672
|
|
NM_001042492.3(NF1):c.3187T>C (p.Cys1063Arg)
|
rs776079267
|
|
NM_001042492.3(NF1):c.3188G>C (p.Cys1063Ser)
|
|
|
NM_001042492.3(NF1):c.3189T>A (p.Cys1063Ter)
|
rs1135402841
|
|
NM_001042492.3(NF1):c.318A>G (p.Glu106=)
|
rs2143670842
|
|
NM_001042492.3(NF1):c.3190C>T (p.Leu1064Phe)
|
rs2067102829
|
|
NM_001042492.3(NF1):c.3191T>C (p.Leu1064Pro)
|
|
|
NM_001042492.3(NF1):c.3192T>C (p.Leu1064=)
|
rs1555614649
|
|
NM_001042492.3(NF1):c.3192del (p.Thr1065fs)
|
|
|
NM_001042492.3(NF1):c.3194C>A (p.Thr1065Lys)
|
rs2067102897
|
|
NM_001042492.3(NF1):c.3195A>C (p.Thr1065=)
|
rs1555614650
|
|
NM_001042492.3(NF1):c.3195A>G (p.Thr1065=)
|
rs1555614650
|
|
NM_001042492.3(NF1):c.3196A>G (p.Arg1066Gly)
|
rs2067102998
|
|
NM_001042492.3(NF1):c.3196del (p.Arg1066fs)
|
rs2067102964
|
|
NM_001042492.3(NF1):c.3197+12A>G
|
|
|
NM_001042492.3(NF1):c.3197+16C>A
|
|
|
NM_001042492.3(NF1):c.3197+18T>G
|
|
|
NM_001042492.3(NF1):c.3197+19T>G
|
rs2151432590
|
|
NM_001042492.3(NF1):c.3197+1G>A
|
rs1555614653
|
|
NM_001042492.3(NF1):c.3197+1G>T
|
rs1555614653
|
|
NM_001042492.3(NF1):c.3197+20C>A
|
|
|
NM_001042492.3(NF1):c.3197+20C>T
|
|
|
NM_001042492.3(NF1):c.3197+2T>C
|
|
|
NM_001042492.3(NF1):c.3197+2T>G
|
rs2151432549
|
|
NM_001042492.3(NF1):c.3197+2del
|
rs1597717694
|
|
NM_001042492.3(NF1):c.3197+3A>T
|
rs1359512152
|
|
NM_001042492.3(NF1):c.3197+491_3384del
|
|
|
NM_001042492.3(NF1):c.3197+7_3197+9del
|
rs755212937
|
|
NM_001042492.3(NF1):c.3197+9A>G
|
|
|
NM_001042492.3(NF1):c.3197+9_3197+10insT
|
|
|
NM_001042492.3(NF1):c.3197+9del
|
rs755212937
|
|
NM_001042492.3(NF1):c.3197+9dup
|
rs755212937
|
|
NM_001042492.3(NF1):c.3197G>A (p.Arg1066Lys)
|
rs1555614652
|
|
NM_001042492.3(NF1):c.3197G>C (p.Arg1066Thr)
|
rs1555614652
|
|
NM_001042492.3(NF1):c.3197G>T (p.Arg1066Ile)
|
rs1555614652
|
|
NM_001042492.3(NF1):c.3198-10_3198-4del
|
rs371047262
|
|
NM_001042492.3(NF1):c.3198-11_3198-4del
|
rs371047262
|
|
NM_001042492.3(NF1):c.3198-1G>A
|
|
|
NM_001042492.3(NF1):c.3198-1G>C
|
|
|
NM_001042492.3(NF1):c.3198-1G>T
|
rs1223905930
|
|
NM_001042492.3(NF1):c.3198-2A>C
|
|
|
NM_001042492.3(NF1):c.3198-2A>G
|
rs1131691089
|
|
NM_001042492.3(NF1):c.3198-2A>T
|
rs1131691089
|
|
NM_001042492.3(NF1):c.3198-312_3198-297del
|
|
|
NM_001042492.3(NF1):c.3198-314G>A
|
rs2067116490
|
|
NM_001042492.3(NF1):c.3198-314G>T
|
|
|
NM_001042492.3(NF1):c.3198-3C>A
|
rs777759972
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insAT
|
rs745559136
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insGT
|
rs745559136
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insTC
|
rs864622717
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insTCT
|
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insTGT
|
rs745559136
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insTGTTT
|
rs1597718644
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insTTC
|
rs864622717
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insTTCTT
|
rs2151433594
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insTTGT
|
rs745559136
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insTTTC
|
rs864622717
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insTTTTTC
|
rs864622717
|
|
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.3198-5_3198-4insC
|
rs1555614804
|
|
NM_001042492.3(NF1):c.3198-5_3198-4insG
|
|
|
NM_001042492.3(NF1):c.3198-6T>C
|
rs1312294373
|
|
NM_001042492.3(NF1):c.3198-6_3198-1del
|
rs1597718651
|
|
NM_001042492.3(NF1):c.3198-6_3198-3dup
|
rs1597718647
|
|
NM_001042492.3(NF1):c.3198-7T>G
|
rs2067120590
|
|
NM_001042492.3(NF1):c.3198-7_3198-4del
|
rs371047262
|
|
NM_001042492.3(NF1):c.3198-7_3198-6insG
|
|
|
NM_001042492.3(NF1):c.3198-8T>G
|
rs2067120553
|
|
NM_001042492.3(NF1):c.3198-8_3198-4del
|
rs371047262
|
|
NM_001042492.3(NF1):c.3198-9T>G
|
rs1316749264
|
|
NM_001042492.3(NF1):c.3198A>G (p.Arg1066=)
|
rs864622469
|
|
NM_001042492.3(NF1):c.3198A>T (p.Arg1066Ser)
|
rs864622469
|
|
NM_001042492.3(NF1):c.3199G>A (p.Asp1067Asn)
|
|
|
NM_001042492.3(NF1):c.3199G>T (p.Asp1067Tyr)
|
rs1597718721
|
|
NM_001042492.3(NF1):c.319A>G (p.Thr107Ala)
|
rs2065792343
|
|
NM_001042492.3(NF1):c.3200A>G (p.Asp1067Gly)
|
rs746785904
|
|
NM_001042492.3(NF1):c.3200_3201insATTTT (p.Asp1067fs)
|
|
|
NM_001042492.3(NF1):c.3202_3203dup (p.Leu1068fs)
|
|
|
NM_001042492.3(NF1):c.3203T>G (p.Leu1068Trp)
|
|
|
NM_001042492.3(NF1):c.3203del (p.Leu1068fs)
|
rs2151433657
|
|
NM_001042492.3(NF1):c.3204G>A (p.Leu1068=)
|
rs1258842007
|
|
NM_001042492.3(NF1):c.3204G>C (p.Leu1068Phe)
|
rs1258842007
|
|
NM_001042492.3(NF1):c.3204G>T (p.Leu1068Phe)
|
rs1258842007
|
|
NM_001042492.3(NF1):c.3205G>A (p.Asp1069Asn)
|
|
|
NM_001042492.3(NF1):c.3205del (p.Asp1069fs)
|
|
|
NM_001042492.3(NF1):c.3206_3207dup (p.Gln1070fs)
|
|
|
NM_001042492.3(NF1):c.3207_3208delinsTT (p.Gln1070Ter)
|
rs2067122084
|
|
NM_001042492.3(NF1):c.3208C>G (p.Gln1070Glu)
|
|
|
NM_001042492.3(NF1):c.3208C>T (p.Gln1070Ter)
|
rs786202023
|
|
NM_001042492.3(NF1):c.3209A>G (p.Gln1070Arg)
|
rs2151433679
|
|
NM_001042492.3(NF1):c.320C>T (p.Thr107Met)
|
rs1567817857
|
|
NM_001042492.3(NF1):c.320del (p.Thr107fs)
|
|
|
NM_001042492.3(NF1):c.3210_3212dup (p.Ala1071_Ser1072insAla)
|
|
|
NM_001042492.3(NF1):c.3211G>A (p.Ala1071Thr)
|
|
|
NM_001042492.3(NF1):c.3211G>C (p.Ala1071Pro)
|
rs2067122183
|
|
NM_001042492.3(NF1):c.3212C>T (p.Ala1071Val)
|
rs2151433685
|
|
NM_001042492.3(NF1):c.3212del (p.Ala1071fs)
|
rs1597718735
|
|
NM_001042492.3(NF1):c.3213A>G (p.Ala1071=)
|
rs786202077
|
|
NM_001042492.3(NF1):c.3214dup (p.Ser1072fs)
|
rs1555614825
|
|
NM_001042492.3(NF1):c.3215G>A (p.Ser1072Asn)
|
rs1597718741
|
|
NM_001042492.3(NF1):c.3215_3216del (p.Ser1072fs)
|
rs2067122345
|
|
NM_001042492.3(NF1):c.3216C>G (p.Ser1072Arg)
|
rs1567850647
|
|
NM_001042492.3(NF1):c.3217A>T (p.Met1073Leu)
|
|
|
NM_001042492.3(NF1):c.3218T>C (p.Met1073Thr)
|
rs1555614827
|
|
NM_001042492.3(NF1):c.321G>A (p.Thr107=)
|
rs786201731
|
|
NM_001042492.3(NF1):c.321G>T (p.Thr107=)
|
|
|
NM_001042492.3(NF1):c.3220G>T (p.Glu1074Ter)
|
rs781567020
|
|
NM_001042492.3(NF1):c.3220del (p.Glu1074fs)
|
|
|
NM_001042492.3(NF1):c.3222A>G (p.Glu1074=)
|
rs2151433705
|
|
NM_001042492.3(NF1):c.3223G>T (p.Ala1075Ser)
|
rs1597718763
|
|
NM_001042492.3(NF1):c.3225A>G (p.Ala1075=)
|
rs746022492
|
|
NM_001042492.3(NF1):c.3225dup (p.Val1076fs)
|
|
|
NM_001042492.3(NF1):c.3226G>A (p.Val1076Ile)
|
|
|
NM_001042492.3(NF1):c.3226_3236del (p.Val1076fs)
|
|
|
NM_001042492.3(NF1):c.3230_3255del (p.Val1077fs)
|
|
|
NM_001042492.3(NF1):c.3231T>A (p.Val1077=)
|
rs2151433723
|
|
NM_001042492.3(NF1):c.3232dup (p.Ser1078fs)
|
rs2151433720
|
|
NM_001042492.3(NF1):c.3233C>A (p.Ser1078Ter)
|
|
|
NM_001042492.3(NF1):c.3233C>G (p.Ser1078Ter)
|
rs2067122696
|
|
NM_001042492.3(NF1):c.3234A>C (p.Ser1078=)
|
rs2151433727
|
|
NM_001042492.3(NF1):c.3234A>T (p.Ser1078=)
|
rs2151433727
|
|
NM_001042492.3(NF1):c.3235C>T (p.Leu1079Phe)
|
|
|
NM_001042492.3(NF1):c.3236T>C (p.Leu1079Pro)
|
rs2151433731
|
|
NM_001042492.3(NF1):c.3238C>G (p.Leu1080Val)
|
rs1555614832
|
|
NM_001042492.3(NF1):c.3238C>T (p.Leu1080=)
|
rs1555614832
|
|
NM_001042492.3(NF1):c.3239T>C (p.Leu1080Pro)
|
rs1555614833
|
|
NM_001042492.3(NF1):c.323T>C (p.Met108Thr)
|
rs780233935
|
|
NM_001042492.3(NF1):c.3241G>A (p.Ala1081Thr)
|
rs1555614834
|
|
NM_001042492.3(NF1):c.3243T>A (p.Ala1081=)
|
rs1567850679
|
|
NM_001042492.3(NF1):c.3243del (p.Gly1082fs)
|
rs2067122982
|
|
NM_001042492.3(NF1):c.3244G>C (p.Gly1082Arg)
|
rs2067123009
|
|
NM_001042492.3(NF1):c.3245G>A (p.Gly1082Asp)
|
|
|
NM_001042492.3(NF1):c.3245G>C (p.Gly1082Ala)
|
rs1555614839
|
|
NM_001042492.3(NF1):c.3245_3247del (p.Gly1082_Leu1083delinsVal)
|
rs1597718783
|
|
NM_001042492.3(NF1):c.3246T>A (p.Gly1082=)
|
rs876660670
|
|
NM_001042492.3(NF1):c.3249C>T (p.Leu1083=)
|
|
|
NM_001042492.3(NF1):c.324dup (p.Leu109fs)
|
|
|
NM_001042492.3(NF1):c.3250C>A (p.Pro1084Thr)
|
rs1555614848
|
|
NM_001042492.3(NF1):c.3250C>G (p.Pro1084Ala)
|
rs1555614848
|
|
NM_001042492.3(NF1):c.3250C>T (p.Pro1084Ser)
|
rs1555614848
|
|
NM_001042492.3(NF1):c.3250_3251dup (p.Gln1086fs)
|
rs1555614845
|
|
NM_001042492.3(NF1):c.3250_3254del (p.Pro1084fs)
|
|
|
NM_001042492.3(NF1):c.3251C>G (p.Pro1084Arg)
|
rs1164081667
|
|
NM_001042492.3(NF1):c.3251C>T (p.Pro1084Leu)
|
rs1164081667
|
|
NM_001042492.3(NF1):c.3252T>C (p.Pro1084=)
|
rs2151433765
|
|
NM_001042492.3(NF1):c.3253C>G (p.Leu1085Val)
|
rs145323424
|
|
NM_001042492.3(NF1):c.3254T>C (p.Leu1085Pro)
|
|
|
NM_001042492.3(NF1):c.3255G>A (p.Leu1085=)
|
|
|
NM_001042492.3(NF1):c.3256C>A (p.Gln1086Lys)
|
|
|
NM_001042492.3(NF1):c.3256C>T (p.Gln1086Ter)
|
rs2067123355
|
|
NM_001042492.3(NF1):c.3257A>G (p.Gln1086Arg)
|
|
|
NM_001042492.3(NF1):c.3257del (p.Gln1086fs)
|
|
|
NM_001042492.3(NF1):c.3258G>A (p.Gln1086=)
|
rs876660736
|
|
NM_001042492.3(NF1):c.325C>T (p.Leu109=)
|
|
|
NM_001042492.3(NF1):c.3260_3263dup (p.Glu1088delinsAspTer)
|
|
|
NM_001042492.3(NF1):c.3262G>T (p.Glu1088Ter)
|
rs2151433803
|
|
NM_001042492.3(NF1):c.3262_3263del (p.Glu1088fs)
|
rs2067123493
|
|
NM_001042492.3(NF1):c.3264A>G (p.Glu1088=)
|
|
|
NM_001042492.3(NF1):c.3265G>A (p.Glu1089Lys)
|
rs9907627
|
|
NM_001042492.3(NF1):c.3266A>G (p.Glu1089Gly)
|
|
|
NM_001042492.3(NF1):c.3267A>G (p.Glu1089=)
|
rs1156280518
|
|
NM_001042492.3(NF1):c.3268G>A (p.Gly1090Arg)
|
rs2151433819
|
|
NM_001042492.3(NF1):c.3270A>T (p.Gly1090=)
|
|
|
NM_001042492.3(NF1):c.3270_3271insC (p.Asp1091fs)
|
rs2067123721
|
|
NM_001042492.3(NF1):c.3271G>A (p.Asp1091Asn)
|
rs2151433824
|
|
NM_001042492.3(NF1):c.3272A>G (p.Asp1091Gly)
|
|
|
NM_001042492.3(NF1):c.3272A>T (p.Asp1091Val)
|
|
|
NM_001042492.3(NF1):c.3273T>C (p.Asp1091=)
|
rs1131691124
|
|
NM_001042492.3(NF1):c.3274G>A (p.Gly1092Ser)
|
rs1457169236
|
|
NM_001042492.3(NF1):c.3274G>C (p.Gly1092Arg)
|
rs1457169236
|
|
NM_001042492.3(NF1):c.3275G>A (p.Gly1092Asp)
|
rs1597718838
|
|
NM_001042492.3(NF1):c.3275G>C (p.Gly1092Ala)
|
|
|
NM_001042492.3(NF1):c.3275del (p.Gly1092fs)
|
|
|
NM_001042492.3(NF1):c.3276T>C (p.Gly1092=)
|
rs763555840
|
|
NM_001042492.3(NF1):c.3276T>G (p.Gly1092=)
|
rs763555840
|
|
NM_001042492.3(NF1):c.3276del (p.Val1093fs)
|
rs2067123964
|
|
NM_001042492.3(NF1):c.3277G>A (p.Val1093Met)
|
rs1555614858
|
|
NM_001042492.3(NF1):c.3278T>A (p.Val1093Glu)
|
rs2067124037
|
|
NM_001042492.3(NF1):c.3278T>C (p.Val1093Ala)
|
rs2067124037
|
|
NM_001042492.3(NF1):c.3279G>A (p.Val1093=)
|
rs769134583
|
|
NM_001042492.3(NF1):c.327G>A (p.Leu109=)
|
rs2143671003
|
|
NM_001042492.3(NF1):c.327G>T (p.Leu109=)
|
rs2143671003
|
|
NM_001042492.3(NF1):c.3280G>T (p.Glu1094Ter)
|
|
|
NM_001042492.3(NF1):c.3283T>C (p.Leu1095=)
|
rs1597718850
|
|
NM_001042492.3(NF1):c.3284T>A (p.Leu1095Ter)
|
|
|
NM_001042492.3(NF1):c.3287T>C (p.Met1096Thr)
|
rs863224659
|
|
NM_001042492.3(NF1):c.3287_3295del (p.Met1096_Ala1098del)
|
|
|
NM_001042492.3(NF1):c.3288_3294dup (p.Lys1099fs)
|
rs1555614862
|
|
NM_001042492.3(NF1):c.3289G>A (p.Glu1097Lys)
|
rs1555614865
|
|
NM_001042492.3(NF1):c.328del (p.Val110fs)
|
rs1567817865
|
|
NM_001042492.3(NF1):c.3290A>G (p.Glu1097Gly)
|
|
|
NM_001042492.3(NF1):c.3292G>A (p.Ala1098Thr)
|
|
|
NM_001042492.3(NF1):c.3293C>T (p.Ala1098Val)
|
|
|
NM_001042492.3(NF1):c.3295A>G (p.Lys1099Glu)
|
|
|
NM_001042492.3(NF1):c.3297A>G (p.Lys1099=)
|
|
|
NM_001042492.3(NF1):c.3297del (p.Lys1099fs)
|
rs2151433875
|
|
NM_001042492.3(NF1):c.3299C>A (p.Ser1100Ter)
|
rs2067124341
|
|
NM_001042492.3(NF1):c.3299C>G (p.Ser1100Ter)
|
rs2067124341
|
|
NM_001042492.3(NF1):c.3299C>T (p.Ser1100Leu)
|
rs2067124341
|
|
NM_001042492.3(NF1):c.3299dup (p.Gln1101fs)
|
|
|
NM_001042492.3(NF1):c.3300A>G (p.Ser1100=)
|
rs1060503915
|
|
NM_001042492.3(NF1):c.3301C>T (p.Gln1101Ter)
|
rs2151433888
|
|
NM_001042492.3(NF1):c.3301_3302del (p.Gln1101fs)
|
rs1555614866
|
|
NM_001042492.3(NF1):c.3302A>T (p.Gln1101Leu)
|
rs2151433891
|
|
NM_001042492.3(NF1):c.3304T>G (p.Leu1102Val)
|
|
|
NM_001042492.3(NF1):c.3305T>G (p.Leu1102Ter)
|
rs2067124493
|
|
NM_001042492.3(NF1):c.3309T>C (p.Phe1103=)
|
rs2151433905
|
|
NM_001042492.3(NF1):c.3309_3312del (p.Phe1103fs)
|
rs2151433902
|
|
NM_001042492.3(NF1):c.3310C>G (p.Leu1104Val)
|
rs140957113
|
|
NM_001042492.3(NF1):c.3310C>T (p.Leu1104Phe)
|
|
|
NM_001042492.3(NF1):c.3310_3312del (p.Leu1104del)
|
|
|
NM_001042492.3(NF1):c.3311T>C (p.Leu1104Pro)
|
rs2151433910
|
|
NM_001042492.3(NF1):c.3311T>G (p.Leu1104Arg)
|
|
|
NM_001042492.3(NF1):c.3312_3313insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACAGTTATTTCTT (p.Lys1105delinsPhePhePhePhePhePheXaaXaaXaaXaaThrSerTer)
|
|
|
NM_001042492.3(NF1):c.3312dup (p.Lys1105Ter)
|
|
|
NM_001042492.3(NF1):c.3313A>G (p.Lys1105Glu)
|
rs1555614867
|
|
NM_001042492.3(NF1):c.3313A>T (p.Lys1105Ter)
|
rs1555614867
|
|
NM_001042492.3(NF1):c.3314+10A>C
|
|
|
NM_001042492.3(NF1):c.3314+1G>A
|
rs767805288
|
|
NM_001042492.3(NF1):c.3314+1G>T
|
|
|
NM_001042492.3(NF1):c.3314+2T>A
|
rs863224445
|
|
NM_001042492.3(NF1):c.3314+2T>C
|
|
|
NM_001042492.3(NF1):c.3314+2T>G
|
rs863224445
|
|
NM_001042492.3(NF1):c.3314+8T>G
|
|
|
NM_001042492.3(NF1):c.3314A>G (p.Lys1105Arg)
|
|
|
NM_001042492.3(NF1):c.3315-10T>C
|
rs759279011
|
|
NM_001042492.3(NF1):c.3315-10_3335del
|
rs2151434411
|
|
NM_001042492.3(NF1):c.3315-10dup
|
|
|
NM_001042492.3(NF1):c.3315-11T>G
|
|
|
NM_001042492.3(NF1):c.3315-11_3315-10del
|
rs892809261
|
|
NM_001042492.3(NF1):c.3315-18A>C
|
|
|
NM_001042492.3(NF1):c.3315-18A>G
|
rs2067133614
|
|
NM_001042492.3(NF1):c.3315-19C>T
|
|
|
NM_001042492.3(NF1):c.3315-1G>A
|
rs1567850984
|
|
NM_001042492.3(NF1):c.3315-1G>C
|
rs1567850984
|
|
NM_001042492.3(NF1):c.3315-1G>T
|
|
|
NM_001042492.3(NF1):c.3315-20T>C
|
|
|
NM_001042492.3(NF1):c.3315-20T>G
|
rs558019436
|
|
NM_001042492.3(NF1):c.3315-2A>C
|
rs1555614914
|
|
NM_001042492.3(NF1):c.3315-2A>G
|
rs1555614914
|
|
NM_001042492.3(NF1):c.3315-34_3315-4del
|
rs2151434319
|
|
NM_001042492.3(NF1):c.3315-3C>G
|
rs752318318
|
|
NM_001042492.3(NF1):c.3315-3C>T
|
rs752318318
|
|
NM_001042492.3(NF1):c.3315-4T>C
|
|
|
NM_001042492.3(NF1):c.3315-6T>C
|
rs2151434424
|
|
NM_001042492.3(NF1):c.3315-8T>G
|
rs764783865
|
|
NM_001042492.3(NF1):c.3315A>G (p.Lys1105=)
|
rs1555614915
|
|
NM_001042492.3(NF1):c.3317A>G (p.Tyr1106Cys)
|
rs1567850987
|
|
NM_001042492.3(NF1):c.3317_3325del (p.Tyr1106_Thr1108del)
|
|
|
NM_001042492.3(NF1):c.3318C>A (p.Tyr1106Ter)
|
rs876659289
|
|
NM_001042492.3(NF1):c.3318C>G (p.Tyr1106Ter)
|
rs876659289
|
|
NM_001042492.3(NF1):c.3318C>T (p.Tyr1106=)
|
rs876659289
|
|
NM_001042492.3(NF1):c.3323del (p.Thr1108fs)
|
rs2151434456
|
|
NM_001042492.3(NF1):c.3324_3325del (p.Leu1109fs)
|
rs1555614918
|
|
NM_001042492.3(NF1):c.3324dup (p.Leu1109fs)
|
rs2151434460
|
|
NM_001042492.3(NF1):c.3325T>C (p.Leu1109=)
|
|
|
NM_001042492.3(NF1):c.3326del (p.Leu1109fs)
|
rs2151434465
|
|
NM_001042492.3(NF1):c.3328T>A (p.Phe1110Ile)
|
rs2067134298
|
|
NM_001042492.3(NF1):c.3328T>C (p.Phe1110Leu)
|
rs2067134298
|
|
NM_001042492.3(NF1):c.3328T>G (p.Phe1110Val)
|
rs2067134298
|
|
NM_001042492.3(NF1):c.3329_3332del (p.Leu1109_Phe1110insTer)
|
rs2067134264
|
|
NM_001042492.3(NF1):c.332_333dup (p.Gln112fs)
|
rs1597635722
|
|
NM_001042492.3(NF1):c.332_335del (p.Lys111fs)
|
rs1135402787
|
|
NM_001042492.3(NF1):c.3330T>G (p.Phe1110Leu)
|
|
|
NM_001042492.3(NF1):c.3331del (p.Phe1110_Met1111insTer)
|
rs2067134394
|
|
NM_001042492.3(NF1):c.3332T>C (p.Met1111Thr)
|
rs1555614920
|
|
NM_001042492.3(NF1):c.3332_3333dup (p.Asn1112Ter)
|
|
|
NM_001042492.3(NF1):c.3334A>C (p.Asn1112His)
|
|
|
NM_001042492.3(NF1):c.3334A>G (p.Asn1112Asp)
|
|
|
NM_001042492.3(NF1):c.3335A>G (p.Asn1112Ser)
|
|
|
NM_001042492.3(NF1):c.3336C>A (p.Asn1112Lys)
|
rs1060500262
|
|
NM_001042492.3(NF1):c.3336C>G (p.Asn1112Lys)
|
rs1060500262
|
|
NM_001042492.3(NF1):c.3336C>T (p.Asn1112=)
|
rs1060500262
|
|
NM_001042492.3(NF1):c.3338T>C (p.Leu1113Pro)
|
rs2067134539
|
|
NM_001042492.3(NF1):c.3339T>G (p.Leu1113=)
|
|
|
NM_001042492.3(NF1):c.333A>C (p.Lys111Asn)
|
|
|
NM_001042492.3(NF1):c.333del (p.Lys111fs)
|
rs1597635722
|
|
NM_001042492.3(NF1):c.333dup (p.Gln112fs)
|
rs1597635722
|
|
NM_001042492.3(NF1):c.3340T>C (p.Leu1114=)
|
rs1555614928
|
|
NM_001042492.3(NF1):c.3341T>A (p.Leu1114Ter)
|
|
|
NM_001042492.3(NF1):c.3345_3363del (p.Asn1115fs)
|
|
|
NM_001042492.3(NF1):c.3346G>C (p.Asp1116His)
|
rs1555614932
|
|
NM_001042492.3(NF1):c.3347A>C (p.Asp1116Ala)
|
rs1597719439
|
|
NM_001042492.3(NF1):c.3347_3350del (p.Asp1116fs)
|
rs2067134697
|
|
NM_001042492.3(NF1):c.3347dup (p.Asp1116fs)
|
|
|
NM_001042492.3(NF1):c.3349_3350del (p.Cys1117fs)
|
|
|
NM_001042492.3(NF1):c.3349dup (p.Cys1117fs)
|
|
|
NM_001042492.3(NF1):c.334C>G (p.Gln112Glu)
|
|
|
NM_001042492.3(NF1):c.334C>T (p.Gln112Ter)
|
rs1555606061
|
|
NM_001042492.3(NF1):c.3350G>T (p.Cys1117Phe)
|
|
|
NM_001042492.3(NF1):c.3351C>T (p.Cys1117=)
|
|
|
NM_001042492.3(NF1):c.3351_3355del (p.Cys1117_Glu1119delinsTer)
|
rs2151434514
|
|
NM_001042492.3(NF1):c.3353G>A (p.Ser1118Asn)
|
|
|
NM_001042492.3(NF1):c.3353_3356del (p.Ser1118fs)
|
|
|
NM_001042492.3(NF1):c.3353del (p.Ser1118fs)
|
rs2151434527
|
|
NM_001042492.3(NF1):c.3354T>C (p.Ser1118=)
|
rs2151434529
|
|
NM_001042492.3(NF1):c.3355G>T (p.Glu1119Ter)
|
rs2151434532
|
|
NM_001042492.3(NF1):c.3357del (p.Val1120fs)
|
rs1555614934
|
|
NM_001042492.3(NF1):c.3358G>A (p.Val1120Ile)
|
rs200594167
|
|
NM_001042492.3(NF1):c.3358G>T (p.Val1120Phe)
|
rs200594167
|
|
NM_001042492.3(NF1):c.3359T>A (p.Val1120Asp)
|
|
|
NM_001042492.3(NF1):c.3360T>C (p.Val1120=)
|
|
|
NM_001042492.3(NF1):c.3361G>A (p.Glu1121Lys)
|
rs1567851029
|
|
NM_001042492.3(NF1):c.3361G>T (p.Glu1121Ter)
|
rs1567851029
|
|
NM_001042492.3(NF1):c.3361dup (p.Glu1121fs)
|
rs2151434549
|
|
NM_001042492.3(NF1):c.3362_3365del (p.Glu1121fs)
|
rs2067135200
|
|
NM_001042492.3(NF1):c.3363A>G (p.Glu1121=)
|
rs2151434555
|
|
NM_001042492.3(NF1):c.3363_3365del (p.Glu1121del)
|
rs2067135101
|
|
NM_001042492.3(NF1):c.3365A>G (p.Asp1122Gly)
|
rs1597719461
|
|
NM_001042492.3(NF1):c.3366T>C (p.Asp1122=)
|
rs1597719465
|
|
NM_001042492.3(NF1):c.3366T>G (p.Asp1122Glu)
|
|
|
NM_001042492.3(NF1):c.3367G>T (p.Glu1123Ter)
|
rs1555614940
|
|
NM_001042492.3(NF1):c.3368A>G (p.Glu1123Gly)
|
rs1410465727
|
|
NM_001042492.3(NF1):c.3369A>T (p.Glu1123Asp)
|
rs2151434565
|
|
NM_001042492.3(NF1):c.3370dup (p.Ser1124fs)
|
rs1597719471
|
|
NM_001042492.3(NF1):c.3371G>T (p.Ser1124Ile)
|
rs374472758
|
|
NM_001042492.3(NF1):c.3372T>C (p.Ser1124=)
|
|
|
NM_001042492.3(NF1):c.3374C>G (p.Ala1125Gly)
|
rs902739109
|
|
NM_001042492.3(NF1):c.3375G>A (p.Ala1125=)
|
rs112589561
|
|
NM_001042492.3(NF1):c.3375G>T (p.Ala1125=)
|
rs112589561
|
|
NM_001042492.3(NF1):c.3376C>T (p.Gln1126Ter)
|
rs1555614947
|
|
NM_001042492.3(NF1):c.3376dup (p.Gln1126fs)
|
|
|
NM_001042492.3(NF1):c.3378_3379del (p.Gln1126fs)
|
|
|
NM_001042492.3(NF1):c.3378_3381dup (p.Gly1128fs)
|
rs1597719490
|
|
NM_001042492.3(NF1):c.337T>A (p.Leu113Met)
|
|
|
NM_001042492.3(NF1):c.3380dup (p.Gly1128fs)
|
rs2067135666
|
|
NM_001042492.3(NF1):c.3381_3382del (p.Gly1128fs)
|
rs1597719504
|
|
NM_001042492.3(NF1):c.3381del (p.Gly1128fs)
|
rs2151434592
|
|
NM_001042492.3(NF1):c.3382G>A (p.Gly1128Ser)
|
|
|
NM_001042492.3(NF1):c.3383G>A (p.Gly1128Asp)
|
rs1060500325
|
|
NM_001042492.3(NF1):c.3383G>C (p.Gly1128Ala)
|
rs1060500325
|
|
NM_001042492.3(NF1):c.3383_3384insAACTTTTTG (p.Gly1128_Gly1129insThrPheCys)
|
|
|
NM_001042492.3(NF1):c.3383del (p.Gly1128fs)
|
|
|
NM_001042492.3(NF1):c.3384T>C (p.Gly1128=)
|
|
|
NM_001042492.3(NF1):c.3384del (p.Gly1129fs)
|
rs1567851054
|
|
NM_001042492.3(NF1):c.3387C>T (p.Gly1129=)
|
rs1369392487
|
|
NM_001042492.3(NF1):c.338T>A (p.Leu113Ter)
|
rs2065792758
|
|
NM_001042492.3(NF1):c.338dup (p.Leu113fs)
|
rs1597635740
|
|
NM_001042492.3(NF1):c.3390G>C (p.Arg1130Ser)
|
|
|
NM_001042492.3(NF1):c.3391A>C (p.Lys1131Gln)
|
rs2067135932
|
|
NM_001042492.3(NF1):c.3392_3401del (p.Lys1131fs)
|
rs2067135965
|
|
NM_001042492.3(NF1):c.3394C>G (p.Arg1132Gly)
|
rs587781725
|
|
NM_001042492.3(NF1):c.3394del (p.Arg1132fs)
|
|
|
NM_001042492.3(NF1):c.3395G>T (p.Arg1132Leu)
|
|
|
NM_001042492.3(NF1):c.3395del (p.Arg1132fs)
|
|
|
NM_001042492.3(NF1):c.3396T>C (p.Arg1132=)
|
|
|
NM_001042492.3(NF1):c.3398del (p.Gly1133fs)
|
|
|
NM_001042492.3(NF1):c.339G>C (p.Leu113Phe)
|
|
|
NM_001042492.3(NF1):c.339del (p.Leu113fs)
|
rs1597635745
|
|
NM_001042492.3(NF1):c.339dup (p.Leu114fs)
|
rs2065792798
|
|
NM_001042492.3(NF1):c.3400A>G (p.Met1134Val)
|
rs1597719532
|
|
NM_001042492.3(NF1):c.3402G>A (p.Met1134Ile)
|
rs587782701
|
|
NM_001042492.3(NF1):c.3402_3405dup (p.Arg1136fs)
|
rs1597719535
|
|
NM_001042492.3(NF1):c.3404C>T (p.Ser1135Phe)
|
rs1555614952
|
|
NM_001042492.3(NF1):c.3405T>G (p.Ser1135=)
|
rs2151434652
|
|
NM_001042492.3(NF1):c.3406C>T (p.Arg1136Trp)
|
rs1341314304
|
|
NM_001042492.3(NF1):c.3407G>A (p.Arg1136Gln)
|
rs868407539
|
|
NM_001042492.3(NF1):c.3407G>C (p.Arg1136Pro)
|
rs868407539
|
|
NM_001042492.3(NF1):c.3407G>T (p.Arg1136Leu)
|
|
|
NM_001042492.3(NF1):c.3408dup (p.Arg1137fs)
|
|
|
NM_001042492.3(NF1):c.3411G>C (p.Arg1137Ser)
|
|
|
NM_001042492.3(NF1):c.3411del (p.Arg1137fs)
|
|
|
NM_001042492.3(NF1):c.3412C>T (p.Leu1138=)
|
rs1555614958
|
|
NM_001042492.3(NF1):c.3416C>A (p.Ala1139Glu)
|
rs1555614960
|
|
NM_001042492.3(NF1):c.3417A>C (p.Ala1139=)
|
rs864622524
|
|
NM_001042492.3(NF1):c.3417A>G (p.Ala1139=)
|
rs864622524
|
|
NM_001042492.3(NF1):c.3417A>T (p.Ala1139=)
|
rs864622524
|
|
NM_001042492.3(NF1):c.341T>C (p.Leu114Pro)
|
|
|
NM_001042492.3(NF1):c.3420A>G (p.Ser1140=)
|
rs1555614961
|
|
NM_001042492.3(NF1):c.3420A>T (p.Ser1140=)
|
rs1555614961
|
|
NM_001042492.3(NF1):c.3423G>C (p.Leu1141=)
|
rs748691653
|
|
NM_001042492.3(NF1):c.3423del (p.Arg1142fs)
|
|
|
NM_001042492.3(NF1):c.3424del (p.Arg1142fs)
|
|
|
NM_001042492.3(NF1):c.3425G>A (p.Arg1142Lys)
|
|
|
NM_001042492.3(NF1):c.3426G>A (p.Arg1142=)
|
rs1597719572
|
|
NM_001042492.3(NF1):c.3427C>T (p.His1143Tyr)
|
rs1555614963
|
|
NM_001042492.3(NF1):c.3427_3436del (p.His1143fs)
|
|
|
NM_001042492.3(NF1):c.3428A>G (p.His1143Arg)
|
rs1555614965
|
|
NM_001042492.3(NF1):c.3429C>A (p.His1143Gln)
|
rs2151434709
|
|
NM_001042492.3(NF1):c.3429C>T (p.His1143=)
|
|
|
NM_001042492.3(NF1):c.3429_3432dup (p.Thr1145fs)
|
rs1135402842
|
|
NM_001042492.3(NF1):c.3430T>C (p.Cys1144Arg)
|
rs2067136902
|
|
NM_001042492.3(NF1):c.3430dup (p.Cys1144fs)
|
|
|
NM_001042492.3(NF1):c.3431G>C (p.Cys1144Ser)
|
|
|
NM_001042492.3(NF1):c.3431_3432dup (p.Thr1145fs)
|
rs1555614966
|
|
NM_001042492.3(NF1):c.3432T>A (p.Cys1144Ter)
|
rs2067136971
|
|
NM_001042492.3(NF1):c.3432_3442del (p.Thr1145fs)
|
|
|
NM_001042492.3(NF1):c.3433A>G (p.Thr1145Ala)
|
rs1450606511
|
|
NM_001042492.3(NF1):c.3435G>A (p.Thr1145=)
|
rs772432150
|
|
NM_001042492.3(NF1):c.3435G>C (p.Thr1145=)
|
|
|
NM_001042492.3(NF1):c.3435G>T (p.Thr1145=)
|
rs772432150
|
|
NM_001042492.3(NF1):c.3436G>C (p.Val1146Leu)
|
rs201047812
|
|
NM_001042492.3(NF1):c.3436G>T (p.Val1146Phe)
|
rs201047812
|
|
NM_001042492.3(NF1):c.3437T>A (p.Val1146Asp)
|
rs2067137147
|
|
NM_001042492.3(NF1):c.3438C>T (p.Val1146=)
|
rs876659646
|
|
NM_001042492.3(NF1):c.3439C>A (p.Leu1147Ile)
|
|
|
NM_001042492.3(NF1):c.343C>G (p.Pro115Ala)
|
|
|
NM_001042492.3(NF1):c.3441T>A (p.Leu1147=)
|
|
|
NM_001042492.3(NF1):c.3442G>A (p.Ala1148Thr)
|
|
|
NM_001042492.3(NF1):c.3442G>C (p.Ala1148Pro)
|
rs2067137289
|
|
NM_001042492.3(NF1):c.3442dup (p.Ala1148fs)
|
|
|
NM_001042492.3(NF1):c.3443C>A (p.Ala1148Glu)
|
rs2151434733
|
|
NM_001042492.3(NF1):c.3443del (p.Ala1148fs)
|
rs2067137324
|
|
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val)
|
rs1187097568
|
|
NM_001042492.3(NF1):c.3445A>T (p.Met1149Leu)
|
rs1187097568
|
|
NM_001042492.3(NF1):c.3446T>C (p.Met1149Thr)
|
rs1131691121
|
|
NM_001042492.3(NF1):c.3446T>G (p.Met1149Arg)
|
rs1131691121
|
|
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.3447_3448delinsTG (p.Met1149_Ser1150delinsIleAla)
|
rs2067137517
|
|
NM_001042492.3(NF1):c.3447_3448dup (p.Ser1150fs)
|
rs1597719619
|
|
NM_001042492.3(NF1):c.3448T>C (p.Ser1150Pro)
|
rs2067137547
|
|
NM_001042492.3(NF1):c.3449C>A (p.Ser1150Ter)
|
rs1555614972
|
|
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.3451A>G (p.Asn1151Asp)
|
rs1567851125
|
|
NM_001042492.3(NF1):c.3452_3457del (p.Asn1151_Leu1153delinsIle)
|
rs2067137679
|
|
NM_001042492.3(NF1):c.3452dup (p.Asn1151fs)
|
rs2067137617
|
|
NM_001042492.3(NF1):c.3453C>T (p.Asn1151=)
|
rs2151434768
|
|
NM_001042492.3(NF1):c.3453_3461dup (p.Asn1154_Ala1155insLeuLeuAsn)
|
|
|
NM_001042492.3(NF1):c.3454T>G (p.Leu1152Val)
|
rs771258163
|
|
NM_001042492.3(NF1):c.3455T>G (p.Leu1152Ter)
|
|
|
NM_001042492.3(NF1):c.3455_3458del (p.Leu1152fs)
|
rs2151434766
|
|
NM_001042492.3(NF1):c.3455del (p.Leu1152fs)
|
|
|
NM_001042492.3(NF1):c.3456A>C (p.Leu1152Phe)
|
|
|
NM_001042492.3(NF1):c.3456dup (p.Leu1153fs)
|
rs1430634618
|
|
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs)
|
rs1321848637
|
|
NM_001042492.3(NF1):c.3458T>C (p.Leu1153Pro)
|
|
|
NM_001042492.3(NF1):c.3459C>G (p.Leu1153=)
|
|
|
NM_001042492.3(NF1):c.3459C>T (p.Leu1153=)
|
rs2151434787
|
|
NM_001042492.3(NF1):c.345_349del (p.Glu116fs)
|
|
|
NM_001042492.3(NF1):c.3460A>G (p.Asn1154Asp)
|
rs2067137878
|
|
NM_001042492.3(NF1):c.3461A>C (p.Asn1154Thr)
|
|
|
NM_001042492.3(NF1):c.3461A>T (p.Asn1154Ile)
|
rs371544233
|
|
NM_001042492.3(NF1):c.3461del (p.Asn1154fs)
|
|
|
NM_001042492.3(NF1):c.3461dup (p.Asn1154fs)
|
rs1597719643
|
|
NM_001042492.3(NF1):c.3462T>A (p.Asn1154Lys)
|
rs2067137994
|
|
NM_001042492.3(NF1):c.3463G>A (p.Ala1155Thr)
|
|
|
NM_001042492.3(NF1):c.3464C>A (p.Ala1155Asp)
|
|
|
NM_001042492.3(NF1):c.3464C>G (p.Ala1155Gly)
|
rs1597719654
|
|
NM_001042492.3(NF1):c.3464C>T (p.Ala1155Val)
|
|
|
NM_001042492.3(NF1):c.3466A>C (p.Asn1156His)
|
|
|
NM_001042492.3(NF1):c.3466A>T (p.Asn1156Tyr)
|
|
|
NM_001042492.3(NF1):c.3467A>C (p.Asn1156Thr)
|
rs199474764
|
|
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser)
|
rs199474764
|
|
NM_001042492.3(NF1):c.3468C>A (p.Asn1156Lys)
|
rs147955381
|
|
NM_001042492.3(NF1):c.346G>T (p.Glu116Ter)
|
rs2143671466
|
|
NM_001042492.3(NF1):c.3470T>C (p.Val1157Ala)
|
rs2151434814
|
|
NM_001042492.3(NF1):c.3471_3473del (p.Asp1158del)
|
|
|
NM_001042492.3(NF1):c.3472G>A (p.Asp1158Asn)
|
rs2151434821
|
|
NM_001042492.3(NF1):c.3472G>C (p.Asp1158His)
|
|
|
NM_001042492.3(NF1):c.3473A>G (p.Asp1158Gly)
|
rs2151434824
|
|
NM_001042492.3(NF1):c.3475A>G (p.Ser1159Gly)
|
rs2067138274
|
|
NM_001042492.3(NF1):c.3475_3476del (p.Ser1159fs)
|
rs2151434831
|
|
NM_001042492.3(NF1):c.3475_3476insCTCACCTATGGA (p.Asp1158_Ser1159insThrHisLeuTrp)
|
|
|
NM_001042492.3(NF1):c.3476G>C (p.Ser1159Thr)
|
rs2151434835
|
|
NM_001042492.3(NF1):c.3477del (p.Ser1159fs)
|
rs2151434843
|
|
NM_001042492.3(NF1):c.3477dup (p.Gly1160fs)
|
|
|
NM_001042492.3(NF1):c.3478G>C (p.Gly1160Arg)
|
|
|
NM_001042492.3(NF1):c.3478G>T (p.Gly1160Cys)
|
rs786202815
|
|
NM_001042492.3(NF1):c.3479G>A (p.Gly1160Asp)
|
rs2067138342
|
|
NM_001042492.3(NF1):c.3479G>T (p.Gly1160Val)
|
|
|
NM_001042492.3(NF1):c.3483C>A (p.Leu1161=)
|
rs1597719677
|
|
NM_001042492.3(NF1):c.3483C>T (p.Leu1161=)
|
|
|
NM_001042492.3(NF1):c.3484A>C (p.Met1162Leu)
|
|
|
NM_001042492.3(NF1):c.3484A>T (p.Met1162Leu)
|
rs773968270
|
|
NM_001042492.3(NF1):c.3484dup (p.Met1162fs)
|
rs1555614977
|
|
NM_001042492.3(NF1):c.3486G>T (p.Met1162Ile)
|
|
|
NM_001042492.3(NF1):c.3486del (p.Met1162fs)
|
rs2151434866
|
|
NM_001042492.3(NF1):c.348A>C (p.Glu116Asp)
|
rs1231174547
|
|
NM_001042492.3(NF1):c.3492C>T (p.Ser1164=)
|
rs370206701
|
|
NM_001042492.3(NF1):c.3494T>A (p.Ile1165Lys)
|
rs786204211
|
|
NM_001042492.3(NF1):c.3494T>C (p.Ile1165Thr)
|
rs786204211
|
|
NM_001042492.3(NF1):c.3496+11A>G
|
rs2151434924
|
|
NM_001042492.3(NF1):c.3496+12T>C
|
|
|
NM_001042492.3(NF1):c.3496+13G>A
|
|
|
NM_001042492.3(NF1):c.3496+14A>G
|
rs2151434934
|
|
NM_001042492.3(NF1):c.3496+15A>G
|
|
|
NM_001042492.3(NF1):c.3496+16A>G
|
|
|
NM_001042492.3(NF1):c.3496+17G>C
|
|
|
NM_001042492.3(NF1):c.3496+1G>A
|
rs2067138719
|
|
NM_001042492.3(NF1):c.3496+1G>C
|
rs2067138719
|
|
NM_001042492.3(NF1):c.3496+1G>T
|
|
|
NM_001042492.3(NF1):c.3496+20del
|
|
|
NM_001042492.3(NF1):c.3496+2T>A
|
|
|
NM_001042492.3(NF1):c.3496+2T>C
|
rs766143785
|
|
NM_001042492.3(NF1):c.3496+2T>G
|
|
|
NM_001042492.3(NF1):c.3496+3G>A
|
rs1060500287
|
|
NM_001042492.3(NF1):c.3496+3G>C
|
|
|
NM_001042492.3(NF1):c.3496+3G>T
|
rs1060500287
|
|
NM_001042492.3(NF1):c.3496+4A>G
|
|
|
NM_001042492.3(NF1):c.3496+5G>A
|
rs786202564
|
|
NM_001042492.3(NF1):c.3496+5G>C
|
rs786202564
|
|
NM_001042492.3(NF1):c.3496+5G>T
|
|
|
NM_001042492.3(NF1):c.3496+6A>C
|
rs2151434908
|
|
NM_001042492.3(NF1):c.3496+7T>C
|
rs1060503921
|
|
NM_001042492.3(NF1):c.3496+8C>G
|
|
|
NM_001042492.3(NF1):c.3496+9A>G
|
|
|
NM_001042492.3(NF1):c.3496G>A (p.Gly1166Ser)
|
rs1597719704
|
|
NM_001042492.3(NF1):c.3496G>T (p.Gly1166Cys)
|
rs1597719704
|
|
NM_001042492.3(NF1):c.3497-12T>A
|
rs753605564
|
|
NM_001042492.3(NF1):c.3497-12T>G
|
|
|
NM_001042492.3(NF1):c.3497-16T>A
|
|
|
NM_001042492.3(NF1):c.3497-17C>G
|
|
|
NM_001042492.3(NF1):c.3497-19A>G
|
rs760615401
|
|
NM_001042492.3(NF1):c.3497-19A>T
|
|
|
NM_001042492.3(NF1):c.3497-1G>A
|
rs1555615004
|
|
NM_001042492.3(NF1):c.3497-1G>C
|
|
|
NM_001042492.3(NF1):c.3497-2A>T
|
|
|
NM_001042492.3(NF1):c.3497-3T>C
|
rs2067140936
|
|
NM_001042492.3(NF1):c.3497-4T>G
|
|
|
NM_001042492.3(NF1):c.3497-5A>G
|
rs876660405
|
|
NM_001042492.3(NF1):c.3497-7A>T
|
rs2151435235
|
|
NM_001042492.3(NF1):c.3497-8C>A
|
|
|
NM_001042492.3(NF1):c.3497-8C>G
|
rs1339536459
|
|
NM_001042492.3(NF1):c.3497-8C>T
|
|
|
NM_001042492.3(NF1):c.3497-9C>T
|
rs2151435228
|
|
NM_001042492.3(NF1):c.3497G>T (p.Gly1166Val)
|
|
|
NM_001042492.3(NF1):c.3497_3498delinsAT (p.Gly1166Asp)
|
|
|
NM_001042492.3(NF1):c.3498C>G (p.Gly1166=)
|
|
|
NM_001042492.3(NF1):c.349A>G (p.Ile117Val)
|
rs1597635759
|
|
NM_001042492.3(NF1):c.349del (p.Ile117fs)
|
rs2065792921
|
|
NM_001042492.3(NF1):c.3500T>G (p.Leu1167Ter)
|
rs786204253
|
|
NM_001042492.3(NF1):c.3501A>C (p.Leu1167Phe)
|
rs1555615008
|
|
NM_001042492.3(NF1):c.3502G>C (p.Gly1168Arg)
|
rs878853883
|
|
NM_001042492.3(NF1):c.3503G>A (p.Gly1168Asp)
|
rs2151435263
|
|
NM_001042492.3(NF1):c.3503del (p.Gly1168fs)
|
|
|
NM_001042492.3(NF1):c.3505T>A (p.Tyr1169Asn)
|
|
|
NM_001042492.3(NF1):c.3505T>C (p.Tyr1169His)
|
rs2067141225
|
|
NM_001042492.3(NF1):c.3505dup (p.Tyr1169fs)
|
rs2067141195
|
|
NM_001042492.3(NF1):c.3506A>C (p.Tyr1169Ser)
|
rs1555615014
|
|
NM_001042492.3(NF1):c.3506A>G (p.Tyr1169Cys)
|
rs1555615014
|
|
NM_001042492.3(NF1):c.3509A>T (p.His1170Leu)
|
rs1597719889
|
|
NM_001042492.3(NF1):c.350T>G (p.Ile117Ser)
|
rs199474731
|
|
NM_001042492.3(NF1):c.350dup (p.Cys118fs)
|
rs2143671563
|
|
NM_001042492.3(NF1):c.3512A>G (p.Lys1171Arg)
|
|
|
NM_001042492.3(NF1):c.3513G>A (p.Lys1171=)
|
rs765438014
|
|
NM_001042492.3(NF1):c.3514G>T (p.Asp1172Tyr)
|
|
|
NM_001042492.3(NF1):c.3515A>G (p.Asp1172Gly)
|
rs1555615017
|
|
NM_001042492.3(NF1):c.3516T>A (p.Asp1172Glu)
|
rs2067141430
|
|
NM_001042492.3(NF1):c.3517C>T (p.Leu1173Phe)
|
rs1060500375
|
|
NM_001042492.3(NF1):c.3518T>C (p.Leu1173Pro)
|
rs2151435305
|
|
NM_001042492.3(NF1):c.3519C>T (p.Leu1173=)
|
rs1555615020
|
|
NM_001042492.3(NF1):c.3520C>T (p.Gln1174Ter)
|
rs868450405
|
|
NM_001042492.3(NF1):c.3521A>G (p.Gln1174Arg)
|
rs1135402843
|
|
NM_001042492.3(NF1):c.3522G>T (p.Gln1174His)
|
rs2151435319
|
|
NM_001042492.3(NF1):c.3523A>G (p.Thr1175Ala)
|
rs2067141601
|
|
NM_001042492.3(NF1):c.3525_3526del (p.Arg1176fs)
|
rs1131691092
|
|
NM_001042492.3(NF1):c.3526A>G (p.Arg1176Gly)
|
rs2067141694
|
|
NM_001042492.3(NF1):c.3527G>C (p.Arg1176Thr)
|
|
|
NM_001042492.3(NF1):c.3528A>C (p.Arg1176Ser)
|
|
|
NM_001042492.3(NF1):c.3528_3544del (p.Arg1176fs)
|
rs2151435331
|
|
NM_001042492.3(NF1):c.3530C>T (p.Ala1177Val)
|
rs1597719920
|
|
NM_001042492.3(NF1):c.3531T>C (p.Ala1177=)
|
|
|
NM_001042492.3(NF1):c.3532A>T (p.Thr1178Ser)
|
rs2067141791
|
|
NM_001042492.3(NF1):c.3533C>A (p.Thr1178Lys)
|
rs1555615025
|
|
NM_001042492.3(NF1):c.3533_3538del (p.Thr1178_Phe1179del)
|
|
|
NM_001042492.3(NF1):c.3534A>C (p.Thr1178=)
|
rs876658210
|
|
NM_001042492.3(NF1):c.3534A>G (p.Thr1178=)
|
rs876658210
|
|
NM_001042492.3(NF1):c.3538A>G (p.Met1180Val)
|
rs786203658
|
|
NM_001042492.3(NF1):c.3538A>T (p.Met1180Leu)
|
rs786203658
|
|
NM_001042492.3(NF1):c.3538_3544del (p.Met1180fs)
|
rs2151435366
|
|
NM_001042492.3(NF1):c.3538del (p.Met1180fs)
|
|
|
NM_001042492.3(NF1):c.3539T>G (p.Met1180Arg)
|
rs2067141977
|
|
NM_001042492.3(NF1):c.3540G>A (p.Met1180Ile)
|
|
|
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.3548T>A (p.Leu1183Gln)
|
|
|
NM_001042492.3(NF1):c.3548T>C (p.Leu1183Pro)
|
rs1555615028
|
|
NM_001042492.3(NF1):c.3548T>G (p.Leu1183Arg)
|
rs1555615028
|
|
NM_001042492.3(NF1):c.3549G>A (p.Leu1183=)
|
rs1051842
|
|
NM_001042492.3(NF1):c.3549G>C (p.Leu1183=)
|
rs1051842
|
|
NM_001042492.3(NF1):c.354C>A (p.Cys118Ter)
|
rs768777585
|
|
NM_001042492.3(NF1):c.3550A>C (p.Thr1184Pro)
|
rs2151435398
|
|
NM_001042492.3(NF1):c.3550A>G (p.Thr1184Ala)
|
rs2151435398
|
|
NM_001042492.3(NF1):c.3551C>G (p.Thr1184Arg)
|
rs752850053
|
|
NM_001042492.3(NF1):c.3551del (p.Thr1184fs)
|
rs2151435402
|
|
NM_001042492.3(NF1):c.3553A>G (p.Lys1185Glu)
|
rs2151435410
|
|
NM_001042492.3(NF1):c.3555A>G (p.Lys1185=)
|
|
|
NM_001042492.3(NF1):c.3556A>T (p.Ile1186Phe)
|
|
|
NM_001042492.3(NF1):c.3556del (p.Ile1186fs)
|
rs2151435407
|
|
NM_001042492.3(NF1):c.3556dup (p.Ile1186fs)
|
|
|
NM_001042492.3(NF1):c.3557T>C (p.Ile1186Thr)
|
|
|
NM_001042492.3(NF1):c.3558C>T (p.Ile1186=)
|
|
|
NM_001042492.3(NF1):c.3558_3577del (p.Ile1186_Leu1187insTer)
|
|
|
NM_001042492.3(NF1):c.3559C>G (p.Leu1187Val)
|
|
|
NM_001042492.3(NF1):c.3559C>T (p.Leu1187Phe)
|
rs2067142260
|
|
NM_001042492.3(NF1):c.3559del (p.Leu1187fs)
|
|
|
NM_001042492.3(NF1):c.355C>A (p.His119Asn)
|
rs1555606066
|
|
NM_001042492.3(NF1):c.355C>T (p.His119Tyr)
|
rs1555606066
|
|
NM_001042492.3(NF1):c.3560T>G (p.Leu1187Arg)
|
rs2151435424
|
|
NM_001042492.3(NF1):c.3561del (p.Gln1188fs)
|
|
|
NM_001042492.3(NF1):c.3562C>T (p.Gln1188Ter)
|
rs2067142295
|
|
NM_001042492.3(NF1):c.3562dup (p.Gln1188fs)
|
rs2151435433
|
|
NM_001042492.3(NF1):c.3563A>C (p.Gln1188Pro)
|
rs758419553
|
|
NM_001042492.3(NF1):c.3564A>T (p.Gln1188His)
|
|
|
NM_001042492.3(NF1):c.3564_3585del (p.Gln1188fs)
|
rs2067142341
|
|
NM_001042492.3(NF1):c.3565C>T (p.Gln1189Ter)
|
rs878853884
|
|
NM_001042492.3(NF1):c.3565del (p.Gln1189fs)
|
rs2151435449
|
|
NM_001042492.3(NF1):c.3566A>G (p.Gln1189Arg)
|
rs752039618
|
|
NM_001042492.3(NF1):c.3567A>G (p.Gln1189=)
|
|
|
NM_001042492.3(NF1):c.3567del (p.Gly1190fs)
|
rs1060500271
|
|
NM_001042492.3(NF1):c.3567dup (p.Gly1190fs)
|
|
|
NM_001042492.3(NF1):c.3568G>A (p.Gly1190Ser)
|
rs1597719982
|
|
NM_001042492.3(NF1):c.3569G>A (p.Gly1190Asp)
|
rs1555615032
|
|
NM_001042492.3(NF1):c.356A>G (p.His119Arg)
|
rs150080742
|
|
NM_001042492.3(NF1):c.3571A>G (p.Thr1191Ala)
|
rs1555615033
|
|
NM_001042492.3(NF1):c.3571A>T (p.Thr1191Ser)
|
rs1555615033
|
|
NM_001042492.3(NF1):c.3572C>G (p.Thr1191Arg)
|
rs2151435462
|
|
NM_001042492.3(NF1):c.3572C>T (p.Thr1191Ile)
|
|
|
NM_001042492.3(NF1):c.3572_3573del (p.Thr1191fs)
|
|
|
NM_001042492.3(NF1):c.3573_3574inv (p.Glu1192Ter)
|
|
|
NM_001042492.3(NF1):c.3574G>T (p.Glu1192Ter)
|
rs1442037817
|
|
NM_001042492.3(NF1):c.3577T>A (p.Phe1193Ile)
|
rs2151435475
|
|
NM_001042492.3(NF1):c.3577T>G (p.Phe1193Val)
|
|
|
NM_001042492.3(NF1):c.3578T>A (p.Phe1193Tyr)
|
rs199474780
|
|
NM_001042492.3(NF1):c.3578T>C (p.Phe1193Ser)
|
rs199474780
|
|
NM_001042492.3(NF1):c.3578T>G (p.Phe1193Cys)
|
rs199474780
|
|
NM_001042492.3(NF1):c.3579T>A (p.Phe1193Leu)
|
|
|
NM_001042492.3(NF1):c.3579T>G (p.Phe1193Leu)
|
rs2067142728
|
|
NM_001042492.3(NF1):c.357T>C (p.His119=)
|
|
|
NM_001042492.3(NF1):c.3581A>G (p.Asp1194Gly)
|
|
|
NM_001042492.3(NF1):c.3582C>T (p.Asp1194=)
|
rs1555615036
|
|
NM_001042492.3(NF1):c.3584C>T (p.Thr1195Ile)
|
|
|
NM_001042492.3(NF1):c.3585_3586del (p.Leu1196fs)
|
rs2067142764
|
|
NM_001042492.3(NF1):c.3585del (p.Ala1197fs)
|
|
|
NM_001042492.3(NF1):c.3586C>G (p.Leu1196Val)
|
rs1555615039
|
|
NM_001042492.3(NF1):c.3587T>C (p.Leu1196Pro)
|
|
|
NM_001042492.3(NF1):c.3587T>G (p.Leu1196Arg)
|
rs199474741
|
|
NM_001042492.3(NF1):c.3589G>A (p.Ala1197Thr)
|
rs2151435523
|
|
NM_001042492.3(NF1):c.3589G>C (p.Ala1197Pro)
|
|
|
NM_001042492.3(NF1):c.3590C>T (p.Ala1197Val)
|
rs370820478
|
|
NM_001042492.3(NF1):c.3591A>G (p.Ala1197=)
|
rs2151435527
|
|
NM_001042492.3(NF1):c.3591dup (p.Glu1198fs)
|
rs1135402844
|
|
NM_001042492.3(NF1):c.3592G>C (p.Glu1198Gln)
|
|
|
NM_001042492.3(NF1):c.3592G>T (p.Glu1198Ter)
|
|
|
NM_001042492.3(NF1):c.3593A>G (p.Glu1198Gly)
|
|
|
NM_001042492.3(NF1):c.3594_3595del (p.Glu1198fs)
|
|
|
NM_001042492.3(NF1):c.3595A>C (p.Thr1199Pro)
|
|
|
NM_001042492.3(NF1):c.3595A>G (p.Thr1199Ala)
|
rs1453504440
|
|
NM_001042492.3(NF1):c.3595del (p.Thr1199fs)
|
rs2151435535
|
|
NM_001042492.3(NF1):c.3596C>G (p.Thr1199Arg)
|
rs1555615047
|
|
NM_001042492.3(NF1):c.3596C>T (p.Thr1199Ile)
|
rs1555615047
|
|
NM_001042492.3(NF1):c.3596del (p.Thr1199fs)
|
|
|
NM_001042492.3(NF1):c.3598G>A (p.Val1200Ile)
|
rs1597720021
|
|
NM_001042492.3(NF1):c.3598G>T (p.Val1200Leu)
|
rs1597720021
|
|
NM_001042492.3(NF1):c.3599T>C (p.Val1200Ala)
|
|
|
NM_001042492.3(NF1):c.359T>C (p.Phe120Ser)
|
|
|
NM_001042492.3(NF1):c.3600A>G (p.Val1200=)
|
rs2151435557
|
|
NM_001042492.3(NF1):c.3600A>T (p.Val1200=)
|
|
|
NM_001042492.3(NF1):c.3600_3601delinsG (p.Leu1201fs)
|
|
|
NM_001042492.3(NF1):c.3600_3609del (p.Leu1201fs)
|
rs2151435556
|
|
NM_001042492.3(NF1):c.3602T>A (p.Leu1201Ter)
|
rs2151435564
|
|
NM_001042492.3(NF1):c.3602T>C (p.Leu1201Ser)
|
|
|
NM_001042492.3(NF1):c.3604_3607dup (p.Asp1203delinsGlyTer)
|
rs2151435566
|
|
NM_001042492.3(NF1):c.3604del (p.Ala1202fs)
|
rs1597720036
|
|
NM_001042492.3(NF1):c.3607G>A (p.Asp1203Asn)
|
rs1555615051
|
|
NM_001042492.3(NF1):c.3608A>T (p.Asp1203Val)
|
|
|
NM_001042492.3(NF1):c.360T>C (p.Phe120=)
|
rs1597635781
|
|
NM_001042492.3(NF1):c.360T>G (p.Phe120Leu)
|
|
|
NM_001042492.3(NF1):c.360del (p.Leu121fs)
|
rs2143671676
|
|
NM_001042492.3(NF1):c.3610C>A (p.Arg1204=)
|
rs199474732
|
|
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly)
|
rs199474732
|
|
NM_001042492.3(NF1):c.3610_3622del (p.Arg1204fs)
|
|
|
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.3613T>G (p.Phe1205Val)
|
|
|
NM_001042492.3(NF1):c.3614T>G (p.Phe1205Cys)
|
rs1597720068
|
|
NM_001042492.3(NF1):c.3614_3615dup (p.Glu1206fs)
|
|
|
NM_001042492.3(NF1):c.3614_3626del (p.Phe1205fs)
|
|
|
NM_001042492.3(NF1):c.3615del (p.Phe1205fs)
|
|
|
NM_001042492.3(NF1):c.3616G>T (p.Glu1206Ter)
|
rs2151435605
|
|
NM_001042492.3(NF1):c.3617A>G (p.Glu1206Gly)
|
rs1597720070
|
|
NM_001042492.3(NF1):c.3619del (p.Arg1207fs)
|
|
|
NM_001042492.3(NF1):c.3622T>C (p.Leu1208=)
|
rs2151435620
|
|
NM_001042492.3(NF1):c.3623T>A (p.Leu1208Ter)
|
rs1060500374
|
|
NM_001042492.3(NF1):c.3623T>C (p.Leu1208Ser)
|
rs1060500374
|
|
NM_001042492.3(NF1):c.3623T>G (p.Leu1208Trp)
|
rs1060500374
|
|
NM_001042492.3(NF1):c.3624G>A (p.Leu1208=)
|
rs1597720089
|
|
NM_001042492.3(NF1):c.3625G>C (p.Val1209Leu)
|
rs1458579232
|
|
NM_001042492.3(NF1):c.3625G>T (p.Val1209Leu)
|
rs1458579232
|
|
NM_001042492.3(NF1):c.3625del (p.Val1209fs)
|
|
|
NM_001042492.3(NF1):c.3627G>A (p.Val1209=)
|
|
|
NM_001042492.3(NF1):c.3628G>T (p.Glu1210Ter)
|
rs2151435633
|
|
NM_001042492.3(NF1):c.3630A>G (p.Glu1210=)
|
|
|
NM_001042492.3(NF1):c.3632T>C (p.Leu1211Pro)
|
|
|
NM_001042492.3(NF1):c.3632T>G (p.Leu1211Arg)
|
rs1135402845
|
|
NM_001042492.3(NF1):c.3632_3635dup (p.Thr1213fs)
|
|
|
NM_001042492.3(NF1):c.3634G>A (p.Val1212Ile)
|
rs1597720116
|
|
NM_001042492.3(NF1):c.3635T>A (p.Val1212Asp)
|
|
|
NM_001042492.3(NF1):c.3636C>T (p.Val1212=)
|
rs145126193
|
|
NM_001042492.3(NF1):c.3637A>T (p.Thr1213Ser)
|
|
|
NM_001042492.3(NF1):c.3637dup (p.Thr1213fs)
|
rs2151435655
|
|
NM_001042492.3(NF1):c.3639A>G (p.Thr1213=)
|
rs1555615069
|
|
NM_001042492.3(NF1):c.3639_3640del (p.Met1214fs)
|
rs2151435662
|
|
NM_001042492.3(NF1):c.3639_3641del (p.Met1215del)
|
rs1060500276
|
|
NM_001042492.3(NF1):c.3640del (p.Thr1213_Met1214insTer)
|
rs2151435660
|
|
NM_001042492.3(NF1):c.3641T>G (p.Met1214Arg)
|
rs1567851416
|
|
NM_001042492.3(NF1):c.3641_3645del (p.Met1214fs)
|
rs2151435670
|
|
NM_001042492.3(NF1):c.3641dup (p.Met1214fs)
|
rs2151435668
|
|
NM_001042492.3(NF1):c.3643A>G (p.Met1215Val)
|
rs2067143915
|
|
NM_001042492.3(NF1):c.3644T>A (p.Met1215Lys)
|
|
|
NM_001042492.3(NF1):c.3644T>C (p.Met1215Thr)
|
rs1555615071
|
|
NM_001042492.3(NF1):c.3644T>G (p.Met1215Arg)
|
rs1555615071
|
|
NM_001042492.3(NF1):c.3645_3646insCACC (p.Gly1216fs)
|
|
|
NM_001042492.3(NF1):c.3646G>T (p.Gly1216Cys)
|
rs1567851424
|
|
NM_001042492.3(NF1):c.3646_3647dup (p.Asp1217fs)
|
|
|
NM_001042492.3(NF1):c.3647G>A (p.Gly1216Asp)
|
|
|
NM_001042492.3(NF1):c.3648T>A (p.Gly1216=)
|
rs1060503897
|
|
NM_001042492.3(NF1):c.3649G>A (p.Asp1217Asn)
|
|
|
NM_001042492.3(NF1):c.364C>T (p.His122Tyr)
|
rs587782107
|
|
NM_001042492.3(NF1):c.3650A>G (p.Asp1217Gly)
|
|
|
NM_001042492.3(NF1):c.3650A>T (p.Asp1217Val)
|
|
|
NM_001042492.3(NF1):c.3651T>C (p.Asp1217=)
|
|
|
NM_001042492.3(NF1):c.3651T>G (p.Asp1217Glu)
|
rs1135402846
|
|
NM_001042492.3(NF1):c.3652C>T (p.Gln1218Ter)
|
|
|
NM_001042492.3(NF1):c.3653A>C (p.Gln1218Pro)
|
rs876659541
|
|
NM_001042492.3(NF1):c.3653A>G (p.Gln1218Arg)
|
rs876659541
|
|
NM_001042492.3(NF1):c.3655G>A (p.Gly1219Arg)
|
rs2067144197
|
|
NM_001042492.3(NF1):c.3655G>C (p.Gly1219Arg)
|
rs2067144197
|
|
NM_001042492.3(NF1):c.3656G>A (p.Gly1219Glu)
|
rs878853885
|
|
NM_001042492.3(NF1):c.3656G>T (p.Gly1219Val)
|
rs878853885
|
|
NM_001042492.3(NF1):c.3656_3658del (p.Gly1219del)
|
rs1555615077
|
|
NM_001042492.3(NF1):c.3657dup (p.Glu1220fs)
|
rs1567851445
|
|
NM_001042492.3(NF1):c.3658G>A (p.Glu1220Lys)
|
rs1597720155
|
|
NM_001042492.3(NF1):c.3658G>C (p.Glu1220Gln)
|
rs1597720155
|
|
NM_001042492.3(NF1):c.3658_3659insTTTG (p.Glu1220delinsValTer)
|
rs2067144319
|
|
NM_001042492.3(NF1):c.3659A>C (p.Glu1220Ala)
|
rs2067144350
|
|
NM_001042492.3(NF1):c.3660A>G (p.Glu1220=)
|
rs1597720161
|
|
NM_001042492.3(NF1):c.3660A>T (p.Glu1220Asp)
|
rs1597720161
|
|
NM_001042492.3(NF1):c.3662T>G (p.Leu1221Arg)
|
rs1597720167
|
|
NM_001042492.3(NF1):c.3663C>T (p.Leu1221=)
|
rs771507034
|
|
NM_001042492.3(NF1):c.3664C>G (p.Pro1222Ala)
|
rs1555615088
|
|
NM_001042492.3(NF1):c.3664C>T (p.Pro1222Ser)
|
rs1555615088
|
|
NM_001042492.3(NF1):c.3665C>G (p.Pro1222Arg)
|
|
|
NM_001042492.3(NF1):c.3665C>T (p.Pro1222Leu)
|
|
|
NM_001042492.3(NF1):c.3665del (p.Pro1222fs)
|
rs867391752
|
|
NM_001042492.3(NF1):c.3666T>C (p.Pro1222=)
|
|
|
NM_001042492.3(NF1):c.3667A>G (p.Ile1223Val)
|
rs1567851470
|
|
NM_001042492.3(NF1):c.3668T>G (p.Ile1223Arg)
|
rs1555615091
|
|
NM_001042492.3(NF1):c.366C>G (p.His122Gln)
|
rs138952888
|
|
NM_001042492.3(NF1):c.3671C>G (p.Ala1224Gly)
|
rs1060500340
|
|
NM_001042492.3(NF1):c.3671C>T (p.Ala1224Val)
|
rs1060500340
|
|
NM_001042492.3(NF1):c.3672G>C (p.Ala1224=)
|
|
|
NM_001042492.3(NF1):c.3673A>G (p.Met1225Val)
|
rs770837892
|
|
NM_001042492.3(NF1):c.3674T>C (p.Met1225Thr)
|
|
|
NM_001042492.3(NF1):c.3676del (p.Ala1226fs)
|
|
|
NM_001042492.3(NF1):c.3677C>G (p.Ala1226Gly)
|
|
|
NM_001042492.3(NF1):c.3677del (p.Ala1226fs)
|
|
|
NM_001042492.3(NF1):c.3678T>G (p.Ala1226=)
|
|
|
NM_001042492.3(NF1):c.3678_3683del (p.Leu1227_Ala1228del)
|
rs2151435745
|
|
NM_001042492.3(NF1):c.3679C>G (p.Leu1227Val)
|
rs876660431
|
|
NM_001042492.3(NF1):c.3682del (p.Ala1228fs)
|
|
|
NM_001042492.3(NF1):c.3683C>T (p.Ala1228Val)
|
rs1060500315
|
|
NM_001042492.3(NF1):c.3685A>G (p.Asn1229Asp)
|
rs1555615102
|
|
NM_001042492.3(NF1):c.3685A>T (p.Asn1229Tyr)
|
rs1555615102
|
|
NM_001042492.3(NF1):c.3686A>C (p.Asn1229Thr)
|
rs140523180
|
|
NM_001042492.3(NF1):c.3686del (p.Asn1229fs)
|
rs1555615103
|
|
NM_001042492.3(NF1):c.3687T>C (p.Asn1229=)
|
rs752937870
|
|
NM_001042492.3(NF1):c.3687del (p.Asn1229fs)
|
|
|
NM_001042492.3(NF1):c.368C>A (p.Thr123Asn)
|
rs878853886
|
|
NM_001042492.3(NF1):c.368C>G (p.Thr123Ser)
|
|
|
NM_001042492.3(NF1):c.368C>T (p.Thr123Ile)
|
rs878853886
|
|
NM_001042492.3(NF1):c.3690G>A (p.Val1230=)
|
rs183296277
|
|
NM_001042492.3(NF1):c.3691G>A (p.Val1231Ile)
|
|
|
NM_001042492.3(NF1):c.3692_3708del (p.Val1231fs)
|
rs1135402848
|
|
NM_001042492.3(NF1):c.3695C>T (p.Pro1232Leu)
|
rs2067145287
|
|
NM_001042492.3(NF1):c.3695_3696delinsA (p.Pro1232fs)
|
|
|
NM_001042492.3(NF1):c.3695del (p.Pro1232fs)
|
rs1567851532
|
|
NM_001042492.3(NF1):c.3696T>A (p.Pro1232=)
|
rs1168798963
|
|
NM_001042492.3(NF1):c.3697T>C (p.Cys1233Arg)
|
rs2151435803
|
|
NM_001042492.3(NF1):c.3698G>A (p.Cys1233Tyr)
|
|
|
NM_001042492.3(NF1):c.3698G>C (p.Cys1233Ser)
|
rs2067145365
|
|
NM_001042492.3(NF1):c.3699T>C (p.Cys1233=)
|
rs2067145396
|
|
NM_001042492.3(NF1):c.369C>T (p.Thr123=)
|
rs146691765
|
|
NM_001042492.3(NF1):c.3700dup (p.Ser1234fs)
|
rs2151435809
|
|
NM_001042492.3(NF1):c.3701C>T (p.Ser1234Phe)
|
|
|
NM_001042492.3(NF1):c.3703C>T (p.Gln1235Ter)
|
rs1555615109
|
|
NM_001042492.3(NF1):c.3704_3707del (p.Gln1235fs)
|
rs2151435829
|
|
NM_001042492.3(NF1):c.3706T>C (p.Trp1236Arg)
|
rs1555615111
|
|
NM_001042492.3(NF1):c.3707G>A (p.Trp1236Ter)
|
rs1252674239
|
|
NM_001042492.3(NF1):c.3708+10T>G
|
|
|
NM_001042492.3(NF1):c.3708+12G>A
|
|
|
NM_001042492.3(NF1):c.3708+12G>C
|
|
|
NM_001042492.3(NF1):c.3708+13A>C
|
rs2151435858
|
|
NM_001042492.3(NF1):c.3708+15T>C
|
|
|
NM_001042492.3(NF1):c.3708+16A>G
|
|
|
NM_001042492.3(NF1):c.3708+16A>T
|
rs2151435863
|
|
NM_001042492.3(NF1):c.3708+18G>A
|
rs2151435867
|
|
NM_001042492.3(NF1):c.3708+19C>G
|
|
|
NM_001042492.3(NF1):c.3708+19del
|
|
|
NM_001042492.3(NF1):c.3708+1G>A
|
rs1420779915
|
|
NM_001042492.3(NF1):c.3708+1G>C
|
rs1420779915
|
|
NM_001042492.3(NF1):c.3708+1G>T
|
rs1420779915
|
|
NM_001042492.3(NF1):c.3708+20G>C
|
|
|
NM_001042492.3(NF1):c.3708+2T>C
|
|
|
NM_001042492.3(NF1):c.3708+2dup
|
|
|
NM_001042492.3(NF1):c.3708+3A>G
|
rs1555615114
|
|
NM_001042492.3(NF1):c.3708+3A>T
|
rs1555615114
|
|
NM_001042492.3(NF1):c.3708+3_3708+6del
|
rs2151435840
|
|
NM_001042492.3(NF1):c.3708+4A>G
|
rs2067145705
|
|
NM_001042492.3(NF1):c.3708+5G>A
|
rs1597720280
|
|
NM_001042492.3(NF1):c.3708+5G>C
|
rs1597720280
|
|
NM_001042492.3(NF1):c.3708+7G>A
|
rs1555615115
|
|
NM_001042492.3(NF1):c.3708+8A>G
|
rs1173930586
|
|
NM_001042492.3(NF1):c.3708G>A (p.Trp1236Ter)
|
rs2067145586
|
|
NM_001042492.3(NF1):c.3709-10T>C
|
rs878853887
|
|
NM_001042492.3(NF1):c.3709-14del
|
|
|
NM_001042492.3(NF1):c.3709-15T>C
|
|
|
NM_001042492.3(NF1):c.3709-16T>A
|
|
|
NM_001042492.3(NF1):c.3709-19G>C
|
|
|
NM_001042492.3(NF1):c.3709-1G>A
|
rs1555615431
|
|
NM_001042492.3(NF1):c.3709-20T>C
|
rs2151437644
|
|
NM_001042492.3(NF1):c.3709-20T>G
|
rs2151437644
|
|
NM_001042492.3(NF1):c.3709-2A>C
|
|
|
NM_001042492.3(NF1):c.3709-2A>T
|
rs1597722374
|
|
NM_001042492.3(NF1):c.3709-3C>A
|
rs1555615430
|
|
NM_001042492.3(NF1):c.3709-3C>T
|
rs1555615430
|
|
NM_001042492.3(NF1):c.3709-5C>T
|
rs1390680821
|
|
NM_001042492.3(NF1):c.3709-6T>C
|
|
|
NM_001042492.3(NF1):c.3709-941_3974+2711del
|
|
|
NM_001042492.3(NF1):c.3709-9T>C
|
|
|
NM_001042492.3(NF1):c.3709_3714del (p.Asp1237_Glu1238del)
|
rs2151437703
|
|
NM_001042492.3(NF1):c.370T>A (p.Cys124Ser)
|
rs1555606074
|
|
NM_001042492.3(NF1):c.370_386del (p.Cys124fs)
|
|
|
NM_001042492.3(NF1):c.370del (p.Cys124fs)
|
rs1597635825
|
|
NM_001042492.3(NF1):c.3711T>G (p.Asp1237Glu)
|
rs876659917
|
|
NM_001042492.3(NF1):c.3712G>A (p.Glu1238Lys)
|
|
|
NM_001042492.3(NF1):c.3712G>C (p.Glu1238Gln)
|
rs1060500346
|
|
NM_001042492.3(NF1):c.3712G>T (p.Glu1238Ter)
|
rs1060500346
|
|
NM_001042492.3(NF1):c.3712del (p.Glu1238fs)
|
|
|
NM_001042492.3(NF1):c.3714A>G (p.Glu1238=)
|
rs1597722384
|
|
NM_001042492.3(NF1):c.3716T>G (p.Leu1239Arg)
|
rs1597722390
|
|
NM_001042492.3(NF1):c.3718G>T (p.Ala1240Ser)
|
rs2151437719
|
|
NM_001042492.3(NF1):c.3719C>T (p.Ala1240Val)
|
rs2067185676
|
|
NM_001042492.3(NF1):c.3721C>G (p.Arg1241Gly)
|
rs137854562
|
|
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter)
|
rs137854562
|
|
NM_001042492.3(NF1):c.3722G>C (p.Arg1241Pro)
|
rs543387071
|
|
NM_001042492.3(NF1):c.3725T>C (p.Val1242Ala)
|
|
|
NM_001042492.3(NF1):c.3725T>G (p.Val1242Gly)
|
rs2067185801
|
|
NM_001042492.3(NF1):c.3726T>A (p.Val1242=)
|
rs878853888
|
|
NM_001042492.3(NF1):c.3728T>C (p.Leu1243Pro)
|
rs137854564
|
|
NM_001042492.3(NF1):c.3728T>G (p.Leu1243Arg)
|
rs137854564
|
|
NM_001042492.3(NF1):c.3728_3732del (p.Leu1243fs)
|
rs2151437742
|
|
NM_001042492.3(NF1):c.3729G>A (p.Leu1243=)
|
rs2067185950
|
|
NM_001042492.3(NF1):c.3729G>C (p.Leu1243=)
|
|
|
NM_001042492.3(NF1):c.372T>A (p.Cys124Ter)
|
|
|
NM_001042492.3(NF1):c.372T>C (p.Cys124=)
|
rs1555606078
|
|
NM_001042492.3(NF1):c.3730del (p.Val1244fs)
|
|
|
NM_001042492.3(NF1):c.3732_3742del (p.Thr1245fs)
|
rs1597722429
|
|
NM_001042492.3(NF1):c.3732dup (p.Thr1245fs)
|
rs1135402849
|
|
NM_001042492.3(NF1):c.3733A>C (p.Thr1245Pro)
|
|
|
NM_001042492.3(NF1):c.3733A>G (p.Thr1245Ala)
|
rs786203616
|
|
NM_001042492.3(NF1):c.3733A>T (p.Thr1245Ser)
|
rs786203616
|
|
NM_001042492.3(NF1):c.3733_3740del (p.Val1244_Thr1245insTer)
|
rs2151437747
|
|
NM_001042492.3(NF1):c.3734C>G (p.Thr1245Ser)
|
rs1363534157
|
|
NM_001042492.3(NF1):c.3734_3735delinsTC (p.Thr1245Ile)
|
rs2151437761
|
|
NM_001042492.3(NF1):c.3736C>G (p.Leu1246Val)
|
rs1567852501
|
|
NM_001042492.3(NF1):c.3736C>T (p.Leu1246=)
|
|
|
NM_001042492.3(NF1):c.3736_3737del (p.Leu1246fs)
|
rs2067186293
|
|
NM_001042492.3(NF1):c.3737T>C (p.Leu1246Pro)
|
rs2151437777
|
|
NM_001042492.3(NF1):c.3737dup (p.Phe1247fs)
|
rs1555615445
|
|
NM_001042492.3(NF1):c.3738G>C (p.Leu1246=)
|
|
|
NM_001042492.3(NF1):c.3738del (p.Phe1247fs)
|
rs2151437785
|
|
NM_001042492.3(NF1):c.3739_3742del (p.Phe1247fs)
|
rs1064794276
|
|
NM_001042492.3(NF1):c.373C>A (p.Arg125Ser)
|
rs876659418
|
|
NM_001042492.3(NF1):c.373C>G (p.Arg125Gly)
|
rs876659418
|
|
NM_001042492.3(NF1):c.373C>T (p.Arg125Cys)
|
rs876659418
|
|
NM_001042492.3(NF1):c.373_375del (p.Arg125del)
|
rs2143671923
|
|
NM_001042492.3(NF1):c.3740T>G (p.Phe1247Cys)
|
|
|
NM_001042492.3(NF1):c.3741T>C (p.Phe1247=)
|
|
|
NM_001042492.3(NF1):c.3743A>G (p.Asp1248Gly)
|
rs2067186495
|
|
NM_001042492.3(NF1):c.3743A>T (p.Asp1248Val)
|
|
|
NM_001042492.3(NF1):c.3743del (p.Asp1248fs)
|
|
|
NM_001042492.3(NF1):c.3745T>C (p.Ser1249Pro)
|
|
|
NM_001042492.3(NF1):c.3746C>G (p.Ser1249Cys)
|
|
|
NM_001042492.3(NF1):c.3748C>A (p.Arg1250=)
|
|
|
NM_001042492.3(NF1):c.3748C>G (p.Arg1250Gly)
|
|
|
NM_001042492.3(NF1):c.3749G>T (p.Arg1250Leu)
|
rs199474765
|
|
NM_001042492.3(NF1):c.374G>T (p.Arg125Leu)
|
rs149003051
|
|
NM_001042492.3(NF1):c.3750G>C (p.Arg1250=)
|
|
|
NM_001042492.3(NF1):c.3752A>C (p.His1251Pro)
|
rs1567852526
|
|
NM_001042492.3(NF1):c.3752A>G (p.His1251Arg)
|
rs1567852526
|
|
NM_001042492.3(NF1):c.3753T>A (p.His1251Gln)
|
rs1597722470
|
|
NM_001042492.3(NF1):c.3755T>A (p.Leu1252Ter)
|
rs2067186801
|
|
NM_001042492.3(NF1):c.3755T>G (p.Leu1252Ter)
|
|
|
NM_001042492.3(NF1):c.3755del (p.Leu1252fs)
|
|
|
NM_001042492.3(NF1):c.3756A>G (p.Leu1252=)
|
rs1298630862
|
|
NM_001042492.3(NF1):c.3757C>G (p.Leu1253Val)
|
rs2067186931
|
|
NM_001042492.3(NF1):c.3757C>T (p.Leu1253Phe)
|
rs2067186931
|
|
NM_001042492.3(NF1):c.3758_3761dup (p.Gln1255fs)
|
|
|
NM_001042492.3(NF1):c.3758_3762del (p.Leu1253fs)
|
|
|
NM_001042492.3(NF1):c.3759_3767del (p.Tyr1254_Leu1256del)
|
rs1597722477
|
|
NM_001042492.3(NF1):c.375T>C (p.Arg125=)
|
|
|
NM_001042492.3(NF1):c.375_376del (p.Glu126fs)
|
rs2143672004
|
|
NM_001042492.3(NF1):c.375del (p.Glu126fs)
|
rs2143672014
|
|
NM_001042492.3(NF1):c.3760T>C (p.Tyr1254His)
|
rs2067186968
|
|
NM_001042492.3(NF1):c.3760dup (p.Tyr1254fs)
|
rs2151437833
|
|
NM_001042492.3(NF1):c.3761A>C (p.Tyr1254Ser)
|
|
|
NM_001042492.3(NF1):c.3761A>G (p.Tyr1254Cys)
|
|
|
NM_001042492.3(NF1):c.3762C>T (p.Tyr1254=)
|
rs2151437835
|
|
NM_001042492.3(NF1):c.3763C>G (p.Gln1255Glu)
|
|
|
NM_001042492.3(NF1):c.3763C>T (p.Gln1255Ter)
|
rs1060500308
|
|
NM_001042492.3(NF1):c.3763_3764insTA (p.Gln1255fs)
|
rs2151437838
|
|
NM_001042492.3(NF1):c.3764A>G (p.Gln1255Arg)
|
rs1555615453
|
|
NM_001042492.3(NF1):c.3765A>C (p.Gln1255His)
|
rs766896025
|
|
NM_001042492.3(NF1):c.3765A>T (p.Gln1255His)
|
rs766896025
|
|
NM_001042492.3(NF1):c.3765dup (p.Leu1256fs)
|
|
|
NM_001042492.3(NF1):c.3766C>T (p.Leu1256=)
|
rs876659360
|
|
NM_001042492.3(NF1):c.3767T>G (p.Leu1256Arg)
|
rs1555615457
|
|
NM_001042492.3(NF1):c.3769C>A (p.Leu1257Ile)
|
rs2151437853
|
|
NM_001042492.3(NF1):c.3769C>T (p.Leu1257Phe)
|
|
|
NM_001042492.3(NF1):c.376G>T (p.Glu126Ter)
|
rs2143672030
|
|
NM_001042492.3(NF1):c.3771C>G (p.Leu1257=)
|
rs2067187244
|
|
NM_001042492.3(NF1):c.3771C>T (p.Leu1257=)
|
|
|
NM_001042492.3(NF1):c.3772T>A (p.Trp1258Arg)
|
|
|
NM_001042492.3(NF1):c.3772T>C (p.Trp1258Arg)
|
rs1597722508
|
|
NM_001042492.3(NF1):c.3773G>A (p.Trp1258Ter)
|
rs1555615458
|
|
NM_001042492.3(NF1):c.3774G>A (p.Trp1258Ter)
|
|
|
NM_001042492.3(NF1):c.3774del (p.Leu1257_Trp1258insTer)
|
rs2151437862
|
|
NM_001042492.3(NF1):c.3776A>G (p.Asn1259Ser)
|
rs2151437868
|
|
NM_001042492.3(NF1):c.3777C>T (p.Asn1259=)
|
rs2151437873
|
|
NM_001042492.3(NF1):c.3777_3778del (p.Met1260fs)
|
rs2067187364
|
|
NM_001042492.3(NF1):c.3778_3781del (p.Met1260fs)
|
rs2067187424
|
|
NM_001042492.3(NF1):c.3778del (p.Met1260fs)
|
rs2151437874
|
|
NM_001042492.3(NF1):c.3779T>C (p.Met1260Thr)
|
rs1555615463
|
|
NM_001042492.3(NF1):c.3780_3781dup (p.Phe1261fs)
|
|
|
NM_001042492.3(NF1):c.3784T>G (p.Ser1262Ala)
|
rs2067187603
|
|
NM_001042492.3(NF1):c.3784del (p.Ser1262fs)
|
rs1567852567
|
|
NM_001042492.3(NF1):c.3786T>C (p.Ser1262=)
|
rs786201645
|
|
NM_001042492.3(NF1):c.3786_3787insSVAelement
|
rs2067187668
|
|
NM_001042492.3(NF1):c.3787A>G (p.Lys1263Glu)
|
|
|
NM_001042492.3(NF1):c.3787_3788insT (p.Lys1263fs)
|
rs1555615467
|
|
NM_001042492.3(NF1):c.3789del (p.Glu1264fs)
|
rs2151437896
|
|
NM_001042492.3(NF1):c.378A>C (p.Glu126Asp)
|
rs786201914
|
|
NM_001042492.3(NF1):c.378A>G (p.Glu126=)
|
rs786201914
|
|
NM_001042492.3(NF1):c.378del (p.Gly127fs)
|
|
|
NM_001042492.3(NF1):c.3790G>A (p.Glu1264Lys)
|
rs863224660
|
|
NM_001042492.3(NF1):c.3790G>T (p.Glu1264Ter)
|
rs863224660
|
|
NM_001042492.3(NF1):c.3791A>G (p.Glu1264Gly)
|
rs200603400
|
|
NM_001042492.3(NF1):c.3791_3792del (p.Glu1264fs)
|
rs2151437904
|
|
NM_001042492.3(NF1):c.3791_3792insT (p.Glu1264fs)
|
|
|
NM_001042492.3(NF1):c.3791_3801del (p.Glu1264fs)
|
rs1555615469
|
|
NM_001042492.3(NF1):c.3793G>A (p.Val1265Ile)
|
rs2151437905
|
|
NM_001042492.3(NF1):c.3793G>T (p.Val1265Leu)
|
rs2151437905
|
|
NM_001042492.3(NF1):c.3794_3796del (p.Val1265del)
|
rs2067187885
|
|
NM_001042492.3(NF1):c.3795A>G (p.Val1265=)
|
rs2151437907
|
|
NM_001042492.3(NF1):c.3796G>T (p.Glu1266Ter)
|
rs876660667
|
|
NM_001042492.3(NF1):c.3796_3797del (p.Glu1266fs)
|
rs2151437911
|
|
NM_001042492.3(NF1):c.3797A>T (p.Glu1266Val)
|
|
|
NM_001042492.3(NF1):c.379G>T (p.Gly127Ter)
|
|
|
NM_001042492.3(NF1):c.379_380delinsTT (p.Gly127Leu)
|
rs2143672112
|
|
NM_001042492.3(NF1):c.3800del (p.Leu1267fs)
|
rs2151437918
|
|
NM_001042492.3(NF1):c.3800dup (p.Leu1267fs)
|
|
|
NM_001042492.3(NF1):c.3801G>A (p.Leu1267=)
|
rs786201366
|
|
NM_001042492.3(NF1):c.3801G>T (p.Leu1267Phe)
|
rs786201366
|
|
NM_001042492.3(NF1):c.3802G>T (p.Ala1268Ser)
|
rs758051144
|
|
NM_001042492.3(NF1):c.3802_3803insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAGTAGAATTGG (p.Leu1267_Ala1268insGlyProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluValGluLeu)
|
rs2151437897
|
|
NM_001042492.3(NF1):c.3803C>G (p.Ala1268Gly)
|
rs2067188136
|
|
NM_001042492.3(NF1):c.3803C>T (p.Ala1268Val)
|
rs2067188136
|
|
NM_001042492.3(NF1):c.3804A>T (p.Ala1268=)
|
rs547293714
|
|
NM_001042492.3(NF1):c.3805G>A (p.Asp1269Asn)
|
|
|
NM_001042492.3(NF1):c.3806A>G (p.Asp1269Gly)
|
rs2151437934
|
|
NM_001042492.3(NF1):c.3807C>T (p.Asp1269=)
|
|
|
NM_001042492.3(NF1):c.3808T>A (p.Ser1270Thr)
|
rs1597722567
|
|
NM_001042492.3(NF1):c.3809C>A (p.Ser1270Tyr)
|
|
|
NM_001042492.3(NF1):c.3809C>T (p.Ser1270Phe)
|
|
|
NM_001042492.3(NF1):c.3809_3838del (p.Ser1270_Ser1279del)
|
rs2151437941
|
|
NM_001042492.3(NF1):c.380G>A (p.Gly127Glu)
|
|
|
NM_001042492.3(NF1):c.380_381insT (p.Asn128fs)
|
rs2143672139
|
|
NM_001042492.3(NF1):c.3810_3820del (p.Met1271fs)
|
rs2067188114
|
|
NM_001042492.3(NF1):c.3811A>C (p.Met1271Leu)
|
rs746583007
|
|
NM_001042492.3(NF1):c.3812T>C (p.Met1271Thr)
|
rs876659801
|
|
NM_001042492.3(NF1):c.3813G>A (p.Met1271Ile)
|
rs876658565
|
|
NM_001042492.3(NF1):c.3813G>C (p.Met1271Ile)
|
rs876658565
|
|
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.3815A>G (p.Gln1272Arg)
|
rs1597722580
|
|
NM_001042492.3(NF1):c.3815A>T (p.Gln1272Leu)
|
rs1597722580
|
|
NM_001042492.3(NF1):c.3816G>A (p.Gln1272=)
|
|
|
NM_001042492.3(NF1):c.3816G>C (p.Gln1272His)
|
|
|
NM_001042492.3(NF1):c.3817A>C (p.Thr1273Pro)
|
|
|
NM_001042492.3(NF1):c.3817A>G (p.Thr1273Ala)
|
|
|
NM_001042492.3(NF1):c.3818C>A (p.Thr1273Asn)
|
|
|
NM_001042492.3(NF1):c.3818C>G (p.Thr1273Ser)
|
|
|
NM_001042492.3(NF1):c.3818C>T (p.Thr1273Ile)
|
|
|
NM_001042492.3(NF1):c.3818_3819delinsGA (p.Thr1273Arg)
|
rs2067188491
|
|
NM_001042492.3(NF1):c.3818del (p.Thr1273fs)
|
rs2067188459
|
|
NM_001042492.3(NF1):c.3820C>T (p.Leu1274Phe)
|
rs2067188550
|
|
NM_001042492.3(NF1):c.3821dup (p.Phe1275fs)
|
rs786203614
|
|
NM_001042492.3(NF1):c.3822_3823del (p.Phe1275fs)
|
rs1555615472
|
|
NM_001042492.3(NF1):c.3822_3823insG (p.Phe1275fs)
|
rs2151437977
|
|
NM_001042492.3(NF1):c.3823T>G (p.Phe1275Val)
|
|
|
NM_001042492.3(NF1):c.3826C>A (p.Arg1276=)
|
rs199474742
|
|
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.3826_3827delinsGA (p.Arg1276Glu)
|
|
|
NM_001042492.3(NF1):c.3826del (p.Arg1276fs)
|
rs2067188667
|
|
NM_001042492.3(NF1):c.3827G>C (p.Arg1276Pro)
|
rs137854556
|
|
NM_001042492.3(NF1):c.3827G>T (p.Arg1276Leu)
|
rs137854556
|
|
NM_001042492.3(NF1):c.3830G>A (p.Gly1277Asp)
|
|
|
NM_001042492.3(NF1):c.3830G>T (p.Gly1277Val)
|
rs1555615480
|
|
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=)
|
rs1597722611
|
|
NM_001042492.3(NF1):c.3831_3844del (p.Gly1277_Asn1278insTer)
|
|
|
NM_001042492.3(NF1):c.3832A>T (p.Asn1278Tyr)
|
rs1306874240
|
|
NM_001042492.3(NF1):c.3833A>G (p.Asn1278Ser)
|
rs2067188951
|
|
NM_001042492.3(NF1):c.3833A>T (p.Asn1278Ile)
|
rs2067188951
|
|
NM_001042492.3(NF1):c.3833del (p.Asn1278fs)
|
|
|
NM_001042492.3(NF1):c.3834C>A (p.Asn1278Lys)
|
|
|
NM_001042492.3(NF1):c.3834C>G (p.Asn1278Lys)
|
rs1135402850
|
|
NM_001042492.3(NF1):c.3834del (p.Asn1278fs)
|
|
|
NM_001042492.3(NF1):c.3836G>A (p.Ser1279Asn)
|
rs1170788683
|
|
NM_001042492.3(NF1):c.383A>G (p.Asn128Ser)
|
|
|
NM_001042492.3(NF1):c.3841G>A (p.Ala1281Thr)
|
rs2151438011
|
|
NM_001042492.3(NF1):c.3841G>C (p.Ala1281Pro)
|
rs2151438011
|
|
NM_001042492.3(NF1):c.3841_3842del (p.Ala1281fs)
|
|
|
NM_001042492.3(NF1):c.3842C>A (p.Ala1281Asp)
|
|
|
NM_001042492.3(NF1):c.3842C>G (p.Ala1281Gly)
|
rs1060500341
|
|
NM_001042492.3(NF1):c.3844A>C (p.Ser1282Arg)
|
rs2151438016
|
|
NM_001042492.3(NF1):c.3844A>G (p.Ser1282Gly)
|
|
|
NM_001042492.3(NF1):c.3844del (p.Ser1282fs)
|
|
|
NM_001042492.3(NF1):c.3846T>G (p.Ser1282Arg)
|
rs2067189266
|
|
NM_001042492.3(NF1):c.3847A>G (p.Lys1283Glu)
|
|
|
NM_001042492.3(NF1):c.3849A>G (p.Lys1283=)
|
rs1597722644
|
|
NM_001042492.3(NF1):c.3849A>T (p.Lys1283Asn)
|
rs1597722644
|
|
NM_001042492.3(NF1):c.3849AAT[1] (p.Ile1284del)
|
|
|
NM_001042492.3(NF1):c.384C>T (p.Asn128=)
|
rs1597635852
|
|
NM_001042492.3(NF1):c.3850A>G (p.Ile1284Val)
|
rs775206529
|
|
NM_001042492.3(NF1):c.3851T>G (p.Ile1284Arg)
|
|
|
NM_001042492.3(NF1):c.3852A>G (p.Ile1284Met)
|
rs1597722650
|
|
NM_001042492.3(NF1):c.3853A>C (p.Met1285Leu)
|
rs2151438030
|
|
NM_001042492.3(NF1):c.3853A>G (p.Met1285Val)
|
|
|
NM_001042492.3(NF1):c.3853A>T (p.Met1285Leu)
|
rs2151438030
|
|
NM_001042492.3(NF1):c.3853del (p.Ile1284_Met1285insTer)
|
rs2067189436
|
|
NM_001042492.3(NF1):c.3854T>C (p.Met1285Thr)
|
|
|
NM_001042492.3(NF1):c.3854T>G (p.Met1285Arg)
|
rs2067189465
|
|
NM_001042492.3(NF1):c.3855G>T (p.Met1285Ile)
|
rs2067189497
|
|
NM_001042492.3(NF1):c.3856A>C (p.Thr1286Pro)
|
|
|
NM_001042492.3(NF1):c.3857C>T (p.Thr1286Ile)
|
rs1060500306
|
|
NM_001042492.3(NF1):c.3859T>C (p.Phe1287Leu)
|
rs1434858786
|
|
NM_001042492.3(NF1):c.3859T>G (p.Phe1287Val)
|
rs1434858786
|
|
NM_001042492.3(NF1):c.385C>G (p.Gln129Glu)
|
|
|
NM_001042492.3(NF1):c.385C>T (p.Gln129Ter)
|
rs2143672195
|
|
NM_001042492.3(NF1):c.385del (p.Gln129fs)
|
|
|
NM_001042492.3(NF1):c.3861C>A (p.Phe1287Leu)
|
rs749107019
|
|
NM_001042492.3(NF1):c.3861C>T (p.Phe1287=)
|
rs749107019
|
|
NM_001042492.3(NF1):c.3863G>A (p.Cys1288Tyr)
|
rs1597722661
|
|
NM_001042492.3(NF1):c.3863G>T (p.Cys1288Phe)
|
|
|
NM_001042492.3(NF1):c.3864T>A (p.Cys1288Ter)
|
rs1555615495
|
|
NM_001042492.3(NF1):c.3864T>C (p.Cys1288=)
|
rs1555615495
|
|
NM_001042492.3(NF1):c.3866dup (p.Lys1290fs)
|
rs2067189705
|
|
NM_001042492.3(NF1):c.3869del (p.Lys1290fs)
|
rs2067189853
|
|
NM_001042492.3(NF1):c.386A>T (p.Gln129Leu)
|
rs1060500250
|
|
NM_001042492.3(NF1):c.3870+10del
|
|
|
NM_001042492.3(NF1):c.3870+11T>C
|
rs2151438106
|
|
NM_001042492.3(NF1):c.3870+14A>G
|
rs2151438115
|
|
NM_001042492.3(NF1):c.3870+16T>C
|
rs2151438124
|
|
NM_001042492.3(NF1):c.3870+1G>A
|
rs1131691075
|
|
NM_001042492.3(NF1):c.3870+1G>C
|
rs1131691075
|
|
NM_001042492.3(NF1):c.3870+1G>T
|
rs1131691075
|
|
NM_001042492.3(NF1):c.3870+1del
|
rs2151438079
|
|
NM_001042492.3(NF1):c.3870+20T>C
|
|
|
NM_001042492.3(NF1):c.3870+24_3870+33del
|
|
|
NM_001042492.3(NF1):c.3870+2T>A
|
|
|
NM_001042492.3(NF1):c.3870+4T>C
|
rs1555615499
|
|
NM_001042492.3(NF1):c.3870+5G>A
|
|
|
NM_001042492.3(NF1):c.3870+6dup
|
|
|
NM_001042492.3(NF1):c.3870+7A>G
|
rs774649948
|
|
NM_001042492.3(NF1):c.3870+9C>A
|
|
|
NM_001042492.3(NF1):c.3870G>A (p.Lys1290=)
|
|
|
NM_001042492.3(NF1):c.3870G>C (p.Lys1290Asn)
|
rs1555615497
|
|
NM_001042492.3(NF1):c.3870_3871insTAG (p.Val1291Ter)
|
rs2151438075
|
|
NM_001042492.3(NF1):c.3871-10A>G
|
rs1597722878
|
|
NM_001042492.3(NF1):c.3871-12G>A
|
|
|
NM_001042492.3(NF1):c.3871-12G>C
|
|
|
NM_001042492.3(NF1):c.3871-13T>A
|
rs1597722866
|
|
NM_001042492.3(NF1):c.3871-14G>C
|
|
|
NM_001042492.3(NF1):c.3871-14G>T
|
|
|
NM_001042492.3(NF1):c.3871-15C>A
|
|
|
NM_001042492.3(NF1):c.3871-17T>A
|
|
|
NM_001042492.3(NF1):c.3871-18_3871-17del
|
|
|
NM_001042492.3(NF1):c.3871-1G>A
|
rs1567852753
|
|
NM_001042492.3(NF1):c.3871-1G>C
|
|
|
NM_001042492.3(NF1):c.3871-1G>T
|
|
|
NM_001042492.3(NF1):c.3871-20C>G
|
|
|
NM_001042492.3(NF1):c.3871-20C>T
|
rs778536665
|
|
NM_001042492.3(NF1):c.3871-2A>G
|
rs1131691077
|
|
NM_001042492.3(NF1):c.3871-31_3871-8del
|
|
|
NM_001042492.3(NF1):c.3871-4G>A
|
rs558421445
|
|
NM_001042492.3(NF1):c.3871-4G>T
|
|
|
NM_001042492.3(NF1):c.3871-5T>G
|
rs1597722882
|
|
NM_001042492.3(NF1):c.3871-6C>T
|
|
|
NM_001042492.3(NF1):c.3871-8T>A
|
|
|
NM_001042492.3(NF1):c.3872T>C (p.Val1291Ala)
|
|
|
NM_001042492.3(NF1):c.3873A>G (p.Val1291=)
|
rs1250496630
|
|
NM_001042492.3(NF1):c.3873_3875dup (p.Tyr1292Ter)
|
rs2067193335
|
|
NM_001042492.3(NF1):c.3875A>G (p.Tyr1292Cys)
|
rs1060500243
|
|
NM_001042492.3(NF1):c.3876T>C (p.Tyr1292=)
|
rs2067193414
|
|
NM_001042492.3(NF1):c.3876T>G (p.Tyr1292Ter)
|
rs2067193414
|
|
NM_001042492.3(NF1):c.3877G>A (p.Gly1293Ser)
|
|
|
NM_001042492.3(NF1):c.3878G>A (p.Gly1293Asp)
|
rs2067193448
|
|
NM_001042492.3(NF1):c.3878G>T (p.Gly1293Val)
|
|
|
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.3880G>A (p.Ala1294Thr)
|
rs2067193484
|
|
NM_001042492.3(NF1):c.3881C>T (p.Ala1294Val)
|
rs878853889
|
|
NM_001042492.3(NF1):c.3882T>C (p.Ala1294=)
|
|
|
NM_001042492.3(NF1):c.3884C>T (p.Thr1295Ile)
|
rs2151438517
|
|
NM_001042492.3(NF1):c.3884_3887del (p.Thr1295fs)
|
rs2067193558
|
|
NM_001042492.3(NF1):c.3885C>T (p.Thr1295=)
|
rs773942090
|
|
NM_001042492.3(NF1):c.3887A>G (p.Tyr1296Cys)
|
|
|
NM_001042492.3(NF1):c.3887_3888dup (p.Leu1297fs)
|
rs2151438524
|
|
NM_001042492.3(NF1):c.3888T>A (p.Tyr1296Ter)
|
|
|
NM_001042492.3(NF1):c.3888T>C (p.Tyr1296=)
|
|
|
NM_001042492.3(NF1):c.3888T>G (p.Tyr1296Ter)
|
rs2151438526
|
|
NM_001042492.3(NF1):c.3889C>G (p.Leu1297Val)
|
|
|
NM_001042492.3(NF1):c.3890T>A (p.Leu1297Gln)
|
|
|
NM_001042492.3(NF1):c.3890T>C (p.Leu1297Pro)
|
rs1597722927
|
|
NM_001042492.3(NF1):c.3891_3899del (p.Gln1298_Leu1300del)
|
rs2151438534
|
|
NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter)
|
rs2067193761
|
|
NM_001042492.3(NF1):c.3892del (p.Gln1298fs)
|
rs2151438543
|
|
NM_001042492.3(NF1):c.3895A>C (p.Lys1299Gln)
|
rs2067193845
|
|
NM_001042492.3(NF1):c.3896A>C (p.Lys1299Thr)
|
|
|
NM_001042492.3(NF1):c.3897A>T (p.Lys1299Asn)
|
|
|
NM_001042492.3(NF1):c.3897del (p.Lys1299fs)
|
rs878853890
|
|
NM_001042492.3(NF1):c.3897dup (p.Leu1300fs)
|
|
|
NM_001042492.3(NF1):c.389A>G (p.His130Arg)
|
rs876660277
|
|
NM_001042492.3(NF1):c.389A>T (p.His130Leu)
|
rs876660277
|
|
NM_001042492.3(NF1):c.389del (p.His130fs)
|
rs2143672296
|
|
NM_001042492.3(NF1):c.3900C>A (p.Leu1300=)
|
rs1597722945
|
|
NM_001042492.3(NF1):c.3900_3902del (p.Leu1301del)
|
rs2067193878
|
|
NM_001042492.3(NF1):c.3901C>T (p.Leu1301=)
|
rs2151438571
|
|
NM_001042492.3(NF1):c.3902T>C (p.Leu1301Pro)
|
rs2151438576
|
|
NM_001042492.3(NF1):c.3903G>A (p.Leu1301=)
|
rs876660789
|
|
NM_001042492.3(NF1):c.3904G>A (p.Asp1302Asn)
|
rs1597722958
|
|
NM_001042492.3(NF1):c.3905A>G (p.Asp1302Gly)
|
rs2067194038
|
|
NM_001042492.3(NF1):c.3906T>A (p.Asp1302Glu)
|
rs549058591
|
|
NM_001042492.3(NF1):c.3906T>C (p.Asp1302=)
|
rs549058591
|
|
NM_001042492.3(NF1):c.3906del (p.Pro1303fs)
|
|
|
NM_001042492.3(NF1):c.3907C>T (p.Pro1303Ser)
|
|
|
NM_001042492.3(NF1):c.3908del (p.Pro1303fs)
|
|
|
NM_001042492.3(NF1):c.3909T>C (p.Pro1303=)
|
|
|
NM_001042492.3(NF1):c.390T>A (p.His130Gln)
|
rs1597635884
|
|
NM_001042492.3(NF1):c.3911T>G (p.Leu1304Ter)
|
rs761512189
|
|
NM_001042492.3(NF1):c.3911del (p.Leu1304fs)
|
rs1555615549
|
|
NM_001042492.3(NF1):c.3912A>T (p.Leu1304Phe)
|
rs2151438597
|
|
NM_001042492.3(NF1):c.3914T>A (p.Leu1305Ter)
|
rs2151438600
|
|
NM_001042492.3(NF1):c.3915dup (p.Arg1306fs)
|
|
|
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)
|
rs376576925
|
|
NM_001042492.3(NF1):c.3917G>A (p.Arg1306Gln)
|
rs1306237220
|
|
NM_001042492.3(NF1):c.391G>A (p.Ala131Thr)
|
|
|
NM_001042492.3(NF1):c.391del (p.Ala131fs)
|
|
|
NM_001042492.3(NF1):c.3920T>G (p.Ile1307Ser)
|
rs2067194362
|
|
NM_001042492.3(NF1):c.3921T>G (p.Ile1307Met)
|
rs876660805
|
|
NM_001042492.3(NF1):c.3921del (p.Ile1307fs)
|
|
|
NM_001042492.3(NF1):c.3923T>C (p.Val1308Ala)
|
|
|
NM_001042492.3(NF1):c.3924G>A (p.Val1308=)
|
|
|
NM_001042492.3(NF1):c.3924G>T (p.Val1308=)
|
|
|
NM_001042492.3(NF1):c.3925A>G (p.Ile1309Val)
|
rs1350012235
|
|
NM_001042492.3(NF1):c.3926T>A (p.Ile1309Asn)
|
rs1567852796
|
|
NM_001042492.3(NF1):c.3926del (p.Ile1309fs)
|
rs2067194538
|
|
NM_001042492.3(NF1):c.3928A>G (p.Thr1310Ala)
|
|
|
NM_001042492.3(NF1):c.3929C>A (p.Thr1310Lys)
|
rs1555615554
|
|
NM_001042492.3(NF1):c.3929C>T (p.Thr1310Ile)
|
rs1555615554
|
|
NM_001042492.3(NF1):c.392C>T (p.Ala131Val)
|
rs1567817930
|
|
NM_001042492.3(NF1):c.3930A>T (p.Thr1310=)
|
|
|
NM_001042492.3(NF1):c.3932C>A (p.Ser1311Tyr)
|
rs587782894
|
|
NM_001042492.3(NF1):c.3932C>T (p.Ser1311Phe)
|
rs587782894
|
|
NM_001042492.3(NF1):c.3933C>T (p.Ser1311=)
|
|
|
NM_001042492.3(NF1):c.3936del (p.Asp1313fs)
|
|
|
NM_001042492.3(NF1):c.3936dup (p.Asp1313Ter)
|
|
|
NM_001042492.3(NF1):c.3937G>C (p.Asp1313His)
|
|
|
NM_001042492.3(NF1):c.3938_3941del (p.Asp1313fs)
|
rs2151438635
|
|
NM_001042492.3(NF1):c.3939T>C (p.Asp1313=)
|
rs864622325
|
|
NM_001042492.3(NF1):c.393A>T (p.Ala131=)
|
|
|
NM_001042492.3(NF1):c.393_394delinsCC (p.Ala132Pro)
|
rs2065794141
|
|
NM_001042492.3(NF1):c.3940T>A (p.Trp1314Arg)
|
|
|
NM_001042492.3(NF1):c.3940_3941insA (p.Trp1314Ter)
|
|
|
NM_001042492.3(NF1):c.3940del (p.Trp1314fs)
|
rs2151438640
|
|
NM_001042492.3(NF1):c.3940dup (p.Trp1314fs)
|
|
|
NM_001042492.3(NF1):c.3941G>A (p.Trp1314Ter)
|
rs876658235
|
|
NM_001042492.3(NF1):c.3941G>T (p.Trp1314Leu)
|
|
|
NM_001042492.3(NF1):c.3942G>A (p.Trp1314Ter)
|
rs2067194816
|
|
NM_001042492.3(NF1):c.3942del (p.Trp1314fs)
|
|
|
NM_001042492.3(NF1):c.3943C>T (p.Gln1315Ter)
|
rs2067194846
|
|
NM_001042492.3(NF1):c.3944A>C (p.Gln1315Pro)
|
|
|
NM_001042492.3(NF1):c.3945A>C (p.Gln1315His)
|
|
|
NM_001042492.3(NF1):c.3946C>T (p.His1316Tyr)
|
rs1218464470
|
|
NM_001042492.3(NF1):c.3946_3947del (p.His1316fs)
|
|
|
NM_001042492.3(NF1):c.3947A>C (p.His1316Pro)
|
rs751023085
|
|
NM_001042492.3(NF1):c.3947A>T (p.His1316Leu)
|
rs751023085
|
|
NM_001042492.3(NF1):c.3947_3948del (p.His1316fs)
|
|
|
NM_001042492.3(NF1):c.3949G>A (p.Val1317Ile)
|
rs1555615560
|
|
NM_001042492.3(NF1):c.3949G>C (p.Val1317Leu)
|
rs1555615560
|
|
NM_001042492.3(NF1):c.394G>A (p.Ala132Thr)
|
|
|
NM_001042492.3(NF1):c.394G>C (p.Ala132Pro)
|
|
|
NM_001042492.3(NF1):c.394_395del (p.Ala131_Ala132insTer)
|
|
|
NM_001042492.3(NF1):c.394del (p.Ala132fs)
|
|
|
NM_001042492.3(NF1):c.3950T>C (p.Val1317Ala)
|
|
|
NM_001042492.3(NF1):c.3951T>C (p.Val1317=)
|
rs1597723015
|
|
NM_001042492.3(NF1):c.3952A>G (p.Ser1318Gly)
|
|
|
NM_001042492.3(NF1):c.3953G>C (p.Ser1318Thr)
|
|
|
NM_001042492.3(NF1):c.3955T>C (p.Phe1319Leu)
|
|
|
NM_001042492.3(NF1):c.3955T>G (p.Phe1319Val)
|
|
|
NM_001042492.3(NF1):c.3957T>G (p.Phe1319Leu)
|
|
|
NM_001042492.3(NF1):c.3958G>A (p.Glu1320Lys)
|
rs1273280025
|
|
NM_001042492.3(NF1):c.3959A>C (p.Glu1320Ala)
|
rs1555615562
|
|
NM_001042492.3(NF1):c.3959A>G (p.Glu1320Gly)
|
|
|
NM_001042492.3(NF1):c.3960A>G (p.Glu1320=)
|
rs1555615564
|
|
NM_001042492.3(NF1):c.3961G>A (p.Val1321Met)
|
|
|
NM_001042492.3(NF1):c.3961_3964del (p.Val1321fs)
|
|
|
NM_001042492.3(NF1):c.3962T>A (p.Val1321Glu)
|
|
|
NM_001042492.3(NF1):c.3963G>A (p.Val1321=)
|
rs876660566
|
|
NM_001042492.3(NF1):c.3964G>A (p.Asp1322Asn)
|
rs1597723042
|
|
NM_001042492.3(NF1):c.3964G>C (p.Asp1322His)
|
rs1597723042
|
|
NM_001042492.3(NF1):c.3964G>T (p.Asp1322Tyr)
|
|
|
NM_001042492.3(NF1):c.3964del (p.Asp1322fs)
|
rs2067195486
|
|
NM_001042492.3(NF1):c.3965A>C (p.Asp1322Ala)
|
rs1555615565
|
|
NM_001042492.3(NF1):c.3965A>G (p.Asp1322Gly)
|
|
|
NM_001042492.3(NF1):c.3965A>T (p.Asp1322Val)
|
rs1555615565
|
|
NM_001042492.3(NF1):c.3965del (p.Asp1322fs)
|
rs2067195581
|
|
NM_001042492.3(NF1):c.3967C>G (p.Pro1323Ala)
|
rs2067195656
|
|
NM_001042492.3(NF1):c.3967C>T (p.Pro1323Ser)
|
rs2067195656
|
|
NM_001042492.3(NF1):c.3968C>G (p.Pro1323Arg)
|
|
|
NM_001042492.3(NF1):c.3968C>T (p.Pro1323Leu)
|
|
|
NM_001042492.3(NF1):c.3968del (p.Pro1323fs)
|
rs2151438695
|
|
NM_001042492.3(NF1):c.396T>C (p.Ala132=)
|
rs2143672460
|
|
NM_001042492.3(NF1):c.396del (p.Glu133fs)
|
rs2143672476
|
|
NM_001042492.3(NF1):c.3970del (p.Thr1324fs)
|
rs2151438700
|
|
NM_001042492.3(NF1):c.3971C>T (p.Thr1324Ile)
|
rs2067195762
|
|
NM_001042492.3(NF1):c.3972C>T (p.Thr1324=)
|
rs1597723059
|
|
NM_001042492.3(NF1):c.3973A>T (p.Arg1325Trp)
|
|
|
NM_001042492.3(NF1):c.3973del (p.Arg1325fs)
|
|
|
NM_001042492.3(NF1):c.3974+14T>A
|
|
|
NM_001042492.3(NF1):c.3974+14T>C
|
|
|
NM_001042492.3(NF1):c.3974+16A>G
|
|
|
NM_001042492.3(NF1):c.3974+17C>G
|
rs975843462
|
|
NM_001042492.3(NF1):c.3974+1G>A
|
rs1567852849
|
|
NM_001042492.3(NF1):c.3974+1G>C
|
rs1567852849
|
|
NM_001042492.3(NF1):c.3974+1G>T
|
rs1567852849
|
|
NM_001042492.3(NF1):c.3974+20A>G
|
|
|
NM_001042492.3(NF1):c.3974+23A>T
|
rs376217184
|
|
NM_001042492.3(NF1):c.3974+2T>C
|
rs1555615567
|
|
NM_001042492.3(NF1):c.3974+2T>G
|
|
|
NM_001042492.3(NF1):c.3974+37_3974+38insG
|
rs1555615580
|
|
NM_001042492.3(NF1):c.3974+3T>G
|
rs1597723069
|
|
NM_001042492.3(NF1):c.3974+7C>T
|
rs2151438718
|
|
NM_001042492.3(NF1):c.3974+8A>G
|
rs2067195955
|
|
NM_001042492.3(NF1):c.3974G>A (p.Arg1325Lys)
|
rs863224447
|
|
NM_001042492.3(NF1):c.3974G>C (p.Arg1325Thr)
|
rs863224447
|
|
NM_001042492.3(NF1):c.3974G>T (p.Arg1325Met)
|
rs863224447
|
|
NM_001042492.3(NF1):c.3975-11T>G
|
rs1597734976
|
|
NM_001042492.3(NF1):c.3975-11_3978del
|
|
|
NM_001042492.3(NF1):c.3975-12A>C
|
|
|
NM_001042492.3(NF1):c.3975-12A>G
|
rs750100751
|
|
NM_001042492.3(NF1):c.3975-12A>T
|
rs750100751
|
|
NM_001042492.3(NF1):c.3975-14T>C
|
rs1378636164
|
|
NM_001042492.3(NF1):c.3975-15T>G
|
|
|
NM_001042492.3(NF1):c.3975-17T>C
|
|
|
NM_001042492.3(NF1):c.3975-18A>T
|
rs2151451232
|
|
NM_001042492.3(NF1):c.3975-18_3975-16del
|
rs2151451231
|
|
NM_001042492.3(NF1):c.3975-1922_4174-2448delinsTTTACTTAGGT
|
|
|
NM_001042492.3(NF1):c.3975-1G>A
|
rs1060500370
|
|
NM_001042492.3(NF1):c.3975-1G>C
|
|
|
NM_001042492.3(NF1):c.3975-1G>T
|
rs1060500370
|
|
NM_001042492.3(NF1):c.3975-2A>G
|
rs864622431
|
|
NM_001042492.3(NF1):c.3975-2A>T
|
rs864622431
|
|
NM_001042492.3(NF1):c.3975-2_4018dup
|
rs2151451269
|
|
NM_001042492.3(NF1):c.3975-4G>C
|
rs760207624
|
|
NM_001042492.3(NF1):c.3975-4G>T
|
|
|
NM_001042492.3(NF1):c.3975-5dup
|
rs786202231
|
|
NM_001042492.3(NF1):c.3975-6T>C
|
|
|
NM_001042492.3(NF1):c.3975-6_3975-5del
|
rs786202231
|
|
NM_001042492.3(NF1):c.3975-7T>G
|
|
|
NM_001042492.3(NF1):c.3975-9T>A
|
rs2151451257
|
|
NM_001042492.3(NF1):c.3975G>T (p.Arg1325Ser)
|
rs1597734999
|
|
NM_001042492.3(NF1):c.3976T>C (p.Leu1326=)
|
rs765957571
|
|
NM_001042492.3(NF1):c.3977T>A (p.Leu1326Ter)
|
rs2067447633
|
|
NM_001042492.3(NF1):c.3977T>G (p.Leu1326Ter)
|
rs2067447633
|
|
NM_001042492.3(NF1):c.3978A>G (p.Leu1326=)
|
rs876660506
|
|
NM_001042492.3(NF1):c.3978A>T (p.Leu1326Phe)
|
rs876660506
|
|
NM_001042492.3(NF1):c.397G>A (p.Glu133Lys)
|
rs2065794225
|
|
NM_001042492.3(NF1):c.397del (p.Glu133fs)
|
rs878853891
|
|
NM_001042492.3(NF1):c.3980A>G (p.Glu1327Gly)
|
rs2067447715
|
|
NM_001042492.3(NF1):c.3981A>G (p.Glu1327=)
|
|
|
NM_001042492.3(NF1):c.3982C>T (p.Pro1328Ser)
|
rs2151451297
|
|
NM_001042492.3(NF1):c.3983C>T (p.Pro1328Leu)
|
|
|
NM_001042492.3(NF1):c.3984A>G (p.Pro1328=)
|
|
|
NM_001042492.3(NF1):c.3986C>A (p.Ser1329Ter)
|
rs1060500319
|
|
NM_001042492.3(NF1):c.3986C>G (p.Ser1329Ter)
|
rs1060500319
|
|
NM_001042492.3(NF1):c.3986C>T (p.Ser1329Leu)
|
rs1060500319
|
|
NM_001042492.3(NF1):c.3988G>A (p.Glu1330Lys)
|
rs1483311407
|
|
NM_001042492.3(NF1):c.3989A>G (p.Glu1330Gly)
|
rs1256727206
|
|
NM_001042492.3(NF1):c.3990G>A (p.Glu1330=)
|
rs863224353
|
|
NM_001042492.3(NF1):c.3991A>G (p.Ser1331Gly)
|
rs1411796317
|
|
NM_001042492.3(NF1):c.3991_3992del (p.Ser1331fs)
|
|
|
NM_001042492.3(NF1):c.3991del (p.Ser1331fs)
|
rs2151451319
|
|
NM_001042492.3(NF1):c.3992G>A (p.Ser1331Asn)
|
rs1567858266
|
|
NM_001042492.3(NF1):c.3992G>C (p.Ser1331Thr)
|
rs1567858266
|
|
NM_001042492.3(NF1):c.3993C>G (p.Ser1331Arg)
|
rs2067448156
|
|
NM_001042492.3(NF1):c.3994del (p.Glu1333fs)
|
|
|
NM_001042492.3(NF1):c.3996T>A (p.Leu1332=)
|
|
|
NM_001042492.3(NF1):c.3996del (p.Glu1333fs)
|
|
|
NM_001042492.3(NF1):c.3997G>A (p.Glu1333Lys)
|
rs2151451342
|
|
NM_001042492.3(NF1):c.3998A>G (p.Glu1333Gly)
|
rs200618072
|
|
NM_001042492.3(NF1):c.399A>G (p.Glu133=)
|
rs1597635911
|
|
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.4000del (p.Glu1334fs)
|
rs1135402851
|
|
NM_001042492.3(NF1):c.4004A>G (p.Asn1335Ser)
|
rs1555617304
|
|
NM_001042492.3(NF1):c.4004dup (p.Asn1335fs)
|
rs2067448379
|
|
NM_001042492.3(NF1):c.4005C>G (p.Asn1335Lys)
|
rs2067448469
|
|
NM_001042492.3(NF1):c.4005C>T (p.Asn1335=)
|
|
|
NM_001042492.3(NF1):c.4006C>T (p.Gln1336Ter)
|
rs2151451369
|
|
NM_001042492.3(NF1):c.4006del (p.Gln1336fs)
|
|
|
NM_001042492.3(NF1):c.4008G>C (p.Gln1336His)
|
|
|
NM_001042492.3(NF1):c.4008G>T (p.Gln1336His)
|
rs2067448530
|
|
NM_001042492.3(NF1):c.4009C>A (p.Arg1337=)
|
rs146306756
|
|
NM_001042492.3(NF1):c.4010G>A (p.Arg1337Gln)
|
rs1060500379
|
|
NM_001042492.3(NF1):c.4010_4011insTTCG (p.Asn1338fs)
|
|
|
NM_001042492.3(NF1):c.4011G>C (p.Arg1337=)
|
rs2067448681
|
|
NM_001042492.3(NF1):c.4012A>C (p.Asn1338His)
|
rs864622202
|
|
NM_001042492.3(NF1):c.4013del (p.Asn1338fs)
|
|
|
NM_001042492.3(NF1):c.4014C>A (p.Asn1338Lys)
|
|
|
NM_001042492.3(NF1):c.4014CCT[1] (p.Leu1340del)
|
rs863224834
|
|
NM_001042492.3(NF1):c.4015C>T (p.Leu1339Phe)
|
rs876660466
|
|
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.4017C>A (p.Leu1339=)
|
rs778993658
|
|
NM_001042492.3(NF1):c.4018C>T (p.Leu1340Phe)
|
rs876658268
|
|
NM_001042492.3(NF1):c.4018del (p.Leu1340fs)
|
rs2067448975
|
|
NM_001042492.3(NF1):c.4019_4021del (p.Leu1340del)
|
|
|
NM_001042492.3(NF1):c.401_402del (p.Leu134fs)
|
|
|
NM_001042492.3(NF1):c.4020T>C (p.Leu1340=)
|
rs863224354
|
|
NM_001042492.3(NF1):c.4020del (p.Gln1341fs)
|
rs1567858318
|
|
NM_001042492.3(NF1):c.4021C>T (p.Gln1341Ter)
|
rs137854559
|
|
NM_001042492.3(NF1):c.4022A>G (p.Gln1341Arg)
|
rs1555617325
|
|
NM_001042492.3(NF1):c.4022A>T (p.Gln1341Leu)
|
rs1555617325
|
|
NM_001042492.3(NF1):c.4023G>C (p.Gln1341His)
|
|
|
NM_001042492.3(NF1):c.4025T>C (p.Met1342Thr)
|
rs1326621088
|
|
NM_001042492.3(NF1):c.4026G>A (p.Met1342Ile)
|
rs2067449278
|
|
NM_001042492.3(NF1):c.4027A>C (p.Thr1343Pro)
|
rs2151451431
|
|
NM_001042492.3(NF1):c.4029T>C (p.Thr1343=)
|
|
|
NM_001042492.3(NF1):c.4029_4030insTTT (p.Thr1343_Glu1344insPhe)
|
|
|
NM_001042492.3(NF1):c.4030G>T (p.Glu1344Ter)
|
rs1555617328
|
|
NM_001042492.3(NF1):c.4033_4034del (p.Lys1345fs)
|
|
|
NM_001042492.3(NF1):c.4033_4040del (p.Lys1345fs)
|
|
|
NM_001042492.3(NF1):c.4034A>G (p.Lys1345Arg)
|
|
|
NM_001042492.3(NF1):c.4034del (p.Lys1345fs)
|
rs2067449346
|
|
NM_001042492.3(NF1):c.4035G>A (p.Lys1345=)
|
rs2151451447
|
|
NM_001042492.3(NF1):c.4035G>C (p.Lys1345Asn)
|
|
|
NM_001042492.3(NF1):c.4036T>A (p.Phe1346Ile)
|
rs2151451451
|
|
NM_001042492.3(NF1):c.4038C>A (p.Phe1346Leu)
|
rs2067449447
|
|
NM_001042492.3(NF1):c.4038C>T (p.Phe1346=)
|
|
|
NM_001042492.3(NF1):c.4038del (p.Phe1347fs)
|
rs2067449493
|
|
NM_001042492.3(NF1):c.403_405del (p.Arg135del)
|
rs1597635919
|
|
NM_001042492.3(NF1):c.403_407del (p.Arg135fs)
|
rs2143672609
|
|
NM_001042492.3(NF1):c.403del (p.Arg135fs)
|
rs2065794400
|
|
NM_001042492.3(NF1):c.4041C>A (p.Phe1347Leu)
|
|
|
NM_001042492.3(NF1):c.4041C>G (p.Phe1347Leu)
|
|
|
NM_001042492.3(NF1):c.4042del (p.His1348fs)
|
rs2067449536
|
|
NM_001042492.3(NF1):c.4043A>G (p.His1348Arg)
|
rs786201844
|
|
NM_001042492.3(NF1):c.4043A>T (p.His1348Leu)
|
rs786201844
|
|
NM_001042492.3(NF1):c.4044del (p.His1348fs)
|
rs1567858344
|
|
NM_001042492.3(NF1):c.4045G>A (p.Ala1349Thr)
|
rs1555617332
|
|
NM_001042492.3(NF1):c.4045G>T (p.Ala1349Ser)
|
rs1555617332
|
|
NM_001042492.3(NF1):c.4046C>T (p.Ala1349Val)
|
rs1229215269
|
|
NM_001042492.3(NF1):c.4047C>T (p.Ala1349=)
|
rs752621693
|
|
NM_001042492.3(NF1):c.4049T>C (p.Ile1350Thr)
|
|
|
NM_001042492.3(NF1):c.404G>T (p.Arg135Leu)
|
rs1060500244
|
|
NM_001042492.3(NF1):c.4050C>G (p.Ile1350Met)
|
|
|
NM_001042492.3(NF1):c.4050C>T (p.Ile1350=)
|
|
|
NM_001042492.3(NF1):c.4051A>C (p.Ile1351Leu)
|
rs1233135542
|
|
NM_001042492.3(NF1):c.4051A>G (p.Ile1351Val)
|
|
|
NM_001042492.3(NF1):c.4051A>T (p.Ile1351Phe)
|
|
|
NM_001042492.3(NF1):c.4051dup (p.Ile1351fs)
|
rs2067449978
|
|
NM_001042492.3(NF1):c.4052T>A (p.Ile1351Asn)
|
|
|
NM_001042492.3(NF1):c.4054A>T (p.Ser1352Cys)
|
rs1337343400
|
|
NM_001042492.3(NF1):c.4055G>T (p.Ser1352Ile)
|
rs876660908
|
|
NM_001042492.3(NF1):c.4058C>T (p.Ser1353Phe)
|
rs1555617346
|
|
NM_001042492.3(NF1):c.4060T>A (p.Ser1354Thr)
|
|
|
NM_001042492.3(NF1):c.4061C>A (p.Ser1354Tyr)
|
rs1555617348
|
|
NM_001042492.3(NF1):c.4061C>T (p.Ser1354Phe)
|
rs1555617348
|
|
NM_001042492.3(NF1):c.4062C>G (p.Ser1354=)
|
rs1597735169
|
|
NM_001042492.3(NF1):c.4062C>T (p.Ser1354=)
|
rs1597735169
|
|
NM_001042492.3(NF1):c.4062_4078del (p.Ser1355fs)
|
|
|
NM_001042492.3(NF1):c.4062del (p.Ser1355fs)
|
rs1597735166
|
|
NM_001042492.3(NF1):c.4064C>A (p.Ser1355Ter)
|
rs1131691087
|
|
NM_001042492.3(NF1):c.4065del (p.Glu1356fs)
|
rs2067450400
|
|
NM_001042492.3(NF1):c.4067A>C (p.Glu1356Ala)
|
|
|
NM_001042492.3(NF1):c.4068_4069del (p.Glu1356fs)
|
rs1597735186
|
|
NM_001042492.3(NF1):c.4068del (p.Glu1356fs)
|
rs2067450430
|
|
NM_001042492.3(NF1):c.4069T>A (p.Phe1357Ile)
|
rs1207255352
|
|
NM_001042492.3(NF1):c.4069T>C (p.Phe1357Leu)
|
rs1207255352
|
|
NM_001042492.3(NF1):c.4069T>G (p.Phe1357Val)
|
|
|
NM_001042492.3(NF1):c.4070del (p.Phe1357fs)
|
rs1555617354
|
|
NM_001042492.3(NF1):c.4071C>A (p.Phe1357Leu)
|
|
|
NM_001042492.3(NF1):c.4071C>G (p.Phe1357Leu)
|
rs747272290
|
|
NM_001042492.3(NF1):c.4072C>T (p.Pro1358Ser)
|
rs1555617359
|
|
NM_001042492.3(NF1):c.4073C>T (p.Pro1358Leu)
|
rs2067450726
|
|
NM_001042492.3(NF1):c.4074C>G (p.Pro1358=)
|
rs757398594
|
|
NM_001042492.3(NF1):c.4074C>T (p.Pro1358=)
|
|
|
NM_001042492.3(NF1):c.4074_4075delinsAA (p.Pro1359Thr)
|
rs1555617362
|
|
NM_001042492.3(NF1):c.4076_4077insA (p.Gln1360fs)
|
rs1555617364
|
|
NM_001042492.3(NF1):c.4076del (p.Pro1359fs)
|
rs1135402852
|
|
NM_001042492.3(NF1):c.4076dup (p.Gln1360fs)
|
rs1135402852
|
|
NM_001042492.3(NF1):c.4077T>C (p.Pro1359=)
|
rs1555617366
|
|
NM_001042492.3(NF1):c.4078C>T (p.Gln1360Ter)
|
rs1555617368
|
|
NM_001042492.3(NF1):c.4080A>G (p.Gln1360=)
|
|
|
NM_001042492.3(NF1):c.4081C>A (p.Leu1361Ile)
|
|
|
NM_001042492.3(NF1):c.4081C>T (p.Leu1361Phe)
|
|
|
NM_001042492.3(NF1):c.4082T>G (p.Leu1361Arg)
|
|
|
NM_001042492.3(NF1):c.4083del (p.Arg1362fs)
|
|
|
NM_001042492.3(NF1):c.4084C>G (p.Arg1362Gly)
|
|
|
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter)
|
rs137854560
|
|
NM_001042492.3(NF1):c.4085G>A (p.Arg1362Gln)
|
rs540108477
|
|
NM_001042492.3(NF1):c.4085G>T (p.Arg1362Leu)
|
rs540108477
|
|
NM_001042492.3(NF1):c.4088del (p.Ser1363fs)
|
|
|
NM_001042492.3(NF1):c.4090G>A (p.Val1364Met)
|
rs749748720
|
|
NM_001042492.3(NF1):c.4092G>A (p.Val1364=)
|
|
|
NM_001042492.3(NF1):c.4093T>C (p.Cys1365Arg)
|
rs1364158639
|
|
NM_001042492.3(NF1):c.4093_4094del (p.Cys1365fs)
|
|
|
NM_001042492.3(NF1):c.4095C>T (p.Cys1365=)
|
rs1060503922
|
|
NM_001042492.3(NF1):c.4096C>T (p.His1366Tyr)
|
|
|
NM_001042492.3(NF1):c.4097A>G (p.His1366Arg)
|
rs769042915
|
|
NM_001042492.3(NF1):c.4098C>T (p.His1366=)
|
|
|
NM_001042492.3(NF1):c.4099T>C (p.Cys1367Arg)
|
rs2151451647
|
|
NM_001042492.3(NF1):c.4099_4108dup (p.Gln1370fs)
|
rs2067451446
|
|
NM_001042492.3(NF1):c.4100G>A (p.Cys1367Tyr)
|
rs2151451650
|
|
NM_001042492.3(NF1):c.4100del (p.Cys1367fs)
|
|
|
NM_001042492.3(NF1):c.4103T>C (p.Leu1368Ser)
|
rs1597735265
|
|
NM_001042492.3(NF1):c.4103T>G (p.Leu1368Ter)
|
rs1597735265
|
|
NM_001042492.3(NF1):c.4104A>G (p.Leu1368=)
|
rs2151451667
|
|
NM_001042492.3(NF1):c.4105T>C (p.Tyr1369His)
|
|
|
NM_001042492.3(NF1):c.4105_4106dup (p.Gln1370fs)
|
rs2151451661
|
|
NM_001042492.3(NF1):c.4105dup (p.Tyr1369fs)
|
|
|
NM_001042492.3(NF1):c.4107C>A (p.Tyr1369Ter)
|
rs1597735272
|
|
NM_001042492.3(NF1):c.4107C>G (p.Tyr1369Ter)
|
rs1597735272
|
|
NM_001042492.3(NF1):c.4107C>T (p.Tyr1369=)
|
rs1597735272
|
|
NM_001042492.3(NF1):c.4108C>T (p.Gln1370Ter)
|
rs868573462
|
|
NM_001042492.3(NF1):c.4108del (p.Gln1370fs)
|
rs1597735273
|
|
NM_001042492.3(NF1):c.4109A>C (p.Gln1370Pro)
|
rs1135402853
|
|
NM_001042492.3(NF1):c.4109_4110delinsCC (p.Gln1370Pro)
|
rs2151451687
|
|
NM_001042492.3(NF1):c.4109del (p.Gln1370fs)
|
rs2151451681
|
|
NM_001042492.3(NF1):c.410C>T (p.Ser137Phe)
|
rs1597635932
|
|
NM_001042492.3(NF1):c.4110+10C>T
|
rs776277455
|
|
NM_001042492.3(NF1):c.4110+11A>C
|
|
|
NM_001042492.3(NF1):c.4110+11A>T
|
|
|
NM_001042492.3(NF1):c.4110+13T>G
|
|
|
NM_001042492.3(NF1):c.4110+15A>G
|
rs1331795815
|
|
NM_001042492.3(NF1):c.4110+18G>A
|
rs2151451783
|
|
NM_001042492.3(NF1):c.4110+19A>G
|
|
|
NM_001042492.3(NF1):c.4110+19A>T
|
|
|
NM_001042492.3(NF1):c.4110+19del
|
|
|
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+1del
|
rs2151451697
|
|
NM_001042492.3(NF1):c.4110+2T>A
|
|
|
NM_001042492.3(NF1):c.4110+2T>C
|
|
|
NM_001042492.3(NF1):c.4110+3A>C
|
rs774669878
|
|
NM_001042492.3(NF1):c.4110+4T>A
|
rs587781700
|
|
NM_001042492.3(NF1):c.4110+4T>G
|
rs587781700
|
|
NM_001042492.3(NF1):c.4110+5_4110+8del
|
rs2067451835
|
|
NM_001042492.3(NF1):c.4110+6C>T
|
rs2067451891
|
|
NM_001042492.3(NF1):c.4110+7T>G
|
rs2151451721
|
|
NM_001042492.3(NF1):c.4110+8T>C
|
rs2151451725
|
|
NM_001042492.3(NF1):c.4110+945A>G
|
rs2067468999
|
|
NM_001042492.3(NF1):c.4110+9A>T
|
rs1555617387
|
|
NM_001042492.3(NF1):c.4110G>A (p.Gln1370=)
|
rs1135402854
|
|
NM_001042492.3(NF1):c.4110G>C (p.Gln1370His)
|
rs1135402854
|
|
NM_001042492.3(NF1):c.4111-388T>C
|
|
|
NM_001042492.3(NF1):c.4111-388T>G
|
|
|
NM_001042492.3(NF1):c.411T>C (p.Ser137=)
|
|
|
NM_001042492.3(NF1):c.412G>A (p.Ala138Thr)
|
rs1597635936
|
|
NM_001042492.3(NF1):c.412G>C (p.Ala138Pro)
|
rs1597635936
|
|
NM_001042492.3(NF1):c.414C>T (p.Ala138=)
|
rs1597635949
|
|
NM_001042492.3(NF1):c.414del (p.Ser139fs)
|
|
|
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.416C>G (p.Ser139Cys)
|
rs1262333812
|
|
NM_001042492.3(NF1):c.416C>T (p.Ser139Phe)
|
rs1262333812
|
|
NM_001042492.3(NF1):c.416_423del (p.Ser139fs)
|
|
|
NM_001042492.3(NF1):c.4174-10T>C
|
rs1343858579
|
|
NM_001042492.3(NF1):c.4174-11C>G
|
|
|
NM_001042492.3(NF1):c.4174-12C>A
|
|
|
NM_001042492.3(NF1):c.4174-13T>A
|
rs2067619527
|
|
NM_001042492.3(NF1):c.4174-13T>C
|
|
|
NM_001042492.3(NF1):c.4174-14C>A
|
|
|
NM_001042492.3(NF1):c.4174-15A>C
|
rs2151461679
|
|
NM_001042492.3(NF1):c.4174-15A>G
|
|
|
NM_001042492.3(NF1):c.4174-17C>G
|
rs2151461668
|
|
NM_001042492.3(NF1):c.4174-17C>T
|
|
|
NM_001042492.3(NF1):c.4174-17_4174-16insCTTGTTTTTAGGTGGTTAGCCTAAA
|
rs2151461675
|
|
NM_001042492.3(NF1):c.4174-1G>A
|
rs1555618492
|
|
NM_001042492.3(NF1):c.4174-1G>T
|
|
|
NM_001042492.3(NF1):c.4174-2A>C
|
|
|
NM_001042492.3(NF1):c.4174-2A>G
|
rs1555618489
|
|
NM_001042492.3(NF1):c.4174-2del
|
rs2151461734
|
|
NM_001042492.3(NF1):c.4174-5T>C
|
|
|
NM_001042492.3(NF1):c.4174-7T>A
|
|
|
NM_001042492.3(NF1):c.4174-8G>A
|
|
|
NM_001042492.3(NF1):c.4174-8G>T
|
rs747595222
|
|
NM_001042492.3(NF1):c.4174-8_4174-6del
|
rs751729752
|
|
NM_001042492.3(NF1):c.4174-8_4174-7del
|
|
|
NM_001042492.3(NF1):c.4174-9T>C
|
|
|
NM_001042492.3(NF1):c.4175_4176del (p.Val1392fs)
|
|
|
NM_001042492.3(NF1):c.4176G>A (p.Val1392=)
|
|
|
NM_001042492.3(NF1):c.4176G>T (p.Val1392=)
|
|
|
NM_001042492.3(NF1):c.4176_4177insT (p.Val1393fs)
|
rs2067620152
|
|
NM_001042492.3(NF1):c.4177G>A (p.Val1393Ile)
|
|
|
NM_001042492.3(NF1):c.4177G>C (p.Val1393Leu)
|
|
|
NM_001042492.3(NF1):c.4178T>G (p.Val1393Gly)
|
rs769555730
|
|
NM_001042492.3(NF1):c.4179T>A (p.Val1393=)
|
rs2151461759
|
|
NM_001042492.3(NF1):c.417_418del (p.Val141fs)
|
rs2143672833
|
|
NM_001042492.3(NF1):c.417dup (p.Gly140fs)
|
|
|
NM_001042492.3(NF1):c.4181G>A (p.Ser1394Asn)
|
|
|
NM_001042492.3(NF1):c.4183C>G (p.Gln1395Glu)
|
|
|
NM_001042492.3(NF1):c.4183C>T (p.Gln1395Ter)
|
rs1555618494
|
|
NM_001042492.3(NF1):c.4184A>G (p.Gln1395Arg)
|
rs2151461782
|
|
NM_001042492.3(NF1):c.4185G>A (p.Gln1395=)
|
rs775206746
|
|
NM_001042492.3(NF1):c.4185dup (p.Arg1396fs)
|
rs2067620305
|
|
NM_001042492.3(NF1):c.4186C>T (p.Arg1396Cys)
|
rs1555618495
|
|
NM_001042492.3(NF1):c.4187_4193dup (p.Gln1399fs)
|
rs2151461796
|
|
NM_001042492.3(NF1):c.4188T>A (p.Arg1396=)
|
rs1555618496
|
|
NM_001042492.3(NF1):c.4189T>G (p.Phe1397Val)
|
|
|
NM_001042492.3(NF1):c.418G>A (p.Gly140Arg)
|
rs2065794781
|
|
NM_001042492.3(NF1):c.4190del (p.Phe1397fs)
|
|
|
NM_001042492.3(NF1):c.4190dup (p.Gln1399fs)
|
rs2151461802
|
|
NM_001042492.3(NF1):c.4191C>A (p.Phe1397Leu)
|
rs1555618498
|
|
NM_001042492.3(NF1):c.4191C>G (p.Phe1397Leu)
|
|
|
NM_001042492.3(NF1):c.4192C>T (p.Pro1398Ser)
|
|
|
NM_001042492.3(NF1):c.4193C>A (p.Pro1398His)
|
|
|
NM_001042492.3(NF1):c.4193C>T (p.Pro1398Leu)
|
rs864622299
|
|
NM_001042492.3(NF1):c.4193_4203del (p.Pro1398fs)
|
|
|
NM_001042492.3(NF1):c.4193dup (p.Gln1399fs)
|
rs2067620512
|
|
NM_001042492.3(NF1):c.4194T>G (p.Pro1398=)
|
|
|
NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter)
|
rs1131691072
|
|
NM_001042492.3(NF1):c.4197G>C (p.Gln1399His)
|
rs1355988609
|
|
NM_001042492.3(NF1):c.4197G>T (p.Gln1399His)
|
rs1355988609
|
|
NM_001042492.3(NF1):c.4199A>G (p.Asn1400Ser)
|
|
|
NM_001042492.3(NF1):c.419G>A (p.Gly140Glu)
|
|
|
NM_001042492.3(NF1):c.4200C>G (p.Asn1400Lys)
|
|
|
NM_001042492.3(NF1):c.4200C>T (p.Asn1400=)
|
rs2151461842
|
|
NM_001042492.3(NF1):c.4201A>G (p.Ser1401Gly)
|
rs1060500310
|
|
NM_001042492.3(NF1):c.4202G>A (p.Ser1401Asn)
|
rs1060500249
|
|
NM_001042492.3(NF1):c.4202G>C (p.Ser1401Thr)
|
rs1060500249
|
|
NM_001042492.3(NF1):c.4202G>T (p.Ser1401Ile)
|
rs1060500249
|
|
NM_001042492.3(NF1):c.4203C>T (p.Ser1401=)
|
rs991237227
|
|
NM_001042492.3(NF1):c.4204A>T (p.Ile1402Phe)
|
|
|
NM_001042492.3(NF1):c.4206dup (p.Gly1403fs)
|
rs2151461863
|
|
NM_001042492.3(NF1):c.4207G>C (p.Gly1403Arg)
|
rs138227618
|
|
NM_001042492.3(NF1):c.4207G>T (p.Gly1403Cys)
|
|
|
NM_001042492.3(NF1):c.4208G>A (p.Gly1403Asp)
|
|
|
NM_001042492.3(NF1):c.4208_4220del (p.Gly1403fs)
|
rs2151461869
|
|
NM_001042492.3(NF1):c.4208del (p.Gly1403fs)
|
rs2067621019
|
|
NM_001042492.3(NF1):c.4209T>C (p.Gly1403=)
|
rs761772247
|
|
NM_001042492.3(NF1):c.420G>A (p.Gly140=)
|
rs1597635982
|
|
NM_001042492.3(NF1):c.4210dup (p.Ala1404fs)
|
|
|
NM_001042492.3(NF1):c.4211C>A (p.Ala1404Glu)
|
|
|
NM_001042492.3(NF1):c.4211C>T (p.Ala1404Val)
|
rs1060500257
|
|
NM_001042492.3(NF1):c.4211_4213dup (p.Ala1404dup)
|
rs2067621081
|
|
NM_001042492.3(NF1):c.4214T>C (p.Val1405Ala)
|
rs1186560791
|
|
NM_001042492.3(NF1):c.4215del (p.Gly1406fs)
|
rs2151461902
|
|
NM_001042492.3(NF1):c.4216G>T (p.Gly1406Ter)
|
rs2067621208
|
|
NM_001042492.3(NF1):c.4217G>T (p.Gly1406Val)
|
rs1555618505
|
|
NM_001042492.3(NF1):c.4217del (p.Gly1406fs)
|
rs2151461905
|
|
NM_001042492.3(NF1):c.4219A>C (p.Ser1407Arg)
|
|
|
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly)
|
rs587781755
|
|
NM_001042492.3(NF1):c.4219del (p.Ser1407fs)
|
|
|
NM_001042492.3(NF1):c.421G>A (p.Val141Ile)
|
rs2143672914
|
|
NM_001042492.3(NF1):c.421del (p.Val141fs)
|
rs1131691119
|
|
NM_001042492.3(NF1):c.4220del (p.Ser1407fs)
|
|
|
NM_001042492.3(NF1):c.4221T>G (p.Ser1407Arg)
|
rs2067621366
|
|
NM_001042492.3(NF1):c.4223C>A (p.Ala1408Asp)
|
rs2151461922
|
|
NM_001042492.3(NF1):c.4225dup (p.Met1409fs)
|
|
|
NM_001042492.3(NF1):c.4226T>C (p.Met1409Thr)
|
rs1555618508
|
|
NM_001042492.3(NF1):c.4226T>G (p.Met1409Arg)
|
rs1555618508
|
|
NM_001042492.3(NF1):c.4227G>A (p.Met1409Ile)
|
rs786201895
|
|
NM_001042492.3(NF1):c.4227G>C (p.Met1409Ile)
|
rs786201895
|
|
NM_001042492.3(NF1):c.4227G>T (p.Met1409Ile)
|
|
|
NM_001042492.3(NF1):c.4228T>A (p.Phe1410Ile)
|
rs2151461937
|
|
NM_001042492.3(NF1):c.4229del (p.Phe1410fs)
|
rs1555618511
|
|
NM_001042492.3(NF1):c.4230C>A (p.Phe1410Leu)
|
|
|
NM_001042492.3(NF1):c.4230C>G (p.Phe1410Leu)
|
rs750213850
|
|
NM_001042492.3(NF1):c.4231C>G (p.Leu1411Val)
|
rs199474789
|
|
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe)
|
rs199474789
|
|
NM_001042492.3(NF1):c.4231_4233del (p.Leu1411del)
|
|
|
NM_001042492.3(NF1):c.4232T>C (p.Leu1411Pro)
|
rs2067621676
|
|
NM_001042492.3(NF1):c.4232T>G (p.Leu1411Arg)
|
|
|
NM_001042492.3(NF1):c.4234A>C (p.Arg1412=)
|
rs1555618515
|
|
NM_001042492.3(NF1):c.4234A>G (p.Arg1412Gly)
|
rs1555618515
|
|
NM_001042492.3(NF1):c.4235G>A (p.Arg1412Lys)
|
|
|
NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr)
|
rs1555618516
|
|
NM_001042492.3(NF1):c.4235G>T (p.Arg1412Ile)
|
|
|
NM_001042492.3(NF1):c.4235_4236delinsCT (p.Arg1412Thr)
|
|
|
NM_001042492.3(NF1):c.4235_4240del (p.Arg1412_Phe1413del)
|
rs2151461951
|
|
NM_001042492.3(NF1):c.4236A>C (p.Arg1412Ser)
|
rs137854554
|
|
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser)
|
rs137854554
|
|
NM_001042492.3(NF1):c.4237T>C (p.Phe1413Leu)
|
rs1190777334
|
|
NM_001042492.3(NF1):c.4239T>G (p.Phe1413Leu)
|
rs1597744644
|
|
NM_001042492.3(NF1):c.4239del (p.Phe1413fs)
|
rs2067621912
|
|
NM_001042492.3(NF1):c.4240A>G (p.Ile1414Val)
|
rs2151461966
|
|
NM_001042492.3(NF1):c.4242C>T (p.Ile1414=)
|
rs2151461973
|
|
NM_001042492.3(NF1):c.4243A>C (p.Asn1415His)
|
rs1555618518
|
|
NM_001042492.3(NF1):c.4243A>G (p.Asn1415Asp)
|
rs1555618518
|
|
NM_001042492.3(NF1):c.4243A>T (p.Asn1415Tyr)
|
rs1555618518
|
|
NM_001042492.3(NF1):c.4243_4246del (p.Asn1415fs)
|
|
|
NM_001042492.3(NF1):c.4245T>A (p.Asn1415Lys)
|
rs760949880
|
|
NM_001042492.3(NF1):c.4245T>G (p.Asn1415Lys)
|
rs760949880
|
|
NM_001042492.3(NF1):c.4246C>G (p.Pro1416Ala)
|
rs2151461990
|
|
NM_001042492.3(NF1):c.4247C>G (p.Pro1416Arg)
|
rs1555618521
|
|
NM_001042492.3(NF1):c.4247C>T (p.Pro1416Leu)
|
rs1555618521
|
|
NM_001042492.3(NF1):c.4247_4248delinsTC (p.Pro1416Leu)
|
rs2151461995
|
|
NM_001042492.3(NF1):c.4249G>T (p.Ala1417Ser)
|
rs587781941
|
|
NM_001042492.3(NF1):c.4251C>T (p.Ala1417=)
|
rs1555618524
|
|
NM_001042492.3(NF1):c.4252_4253insCAA (p.Ala1417_Ile1418insThr)
|
rs1783538929
|
|
NM_001042492.3(NF1):c.4252del (p.Ile1418fs)
|
rs1783539066
|
|
NM_001042492.3(NF1):c.4254T>A (p.Ile1418=)
|
|
|
NM_001042492.3(NF1):c.4254del (p.Ile1418fs)
|
rs1135402855
|
|
NM_001042492.3(NF1):c.4255G>A (p.Val1419Ile)
|
rs2067622413
|
|
NM_001042492.3(NF1):c.4256T>A (p.Val1419Asp)
|
rs1555618528
|
|
NM_001042492.3(NF1):c.4256T>C (p.Val1419Ala)
|
|
|
NM_001042492.3(NF1):c.4256T>G (p.Val1419Gly)
|
|
|
NM_001042492.3(NF1):c.4257C>T (p.Val1419=)
|
rs886038395
|
|
NM_001042492.3(NF1):c.4258T>C (p.Ser1420Pro)
|
rs1555618533
|
|
NM_001042492.3(NF1):c.4259C>G (p.Ser1420Ter)
|
|
|
NM_001042492.3(NF1):c.4259_4262dup (p.Tyr1422fs)
|
|
|
NM_001042492.3(NF1):c.425_439del (p.Leu142_Ser146del)
|
|
|
NM_001042492.3(NF1):c.425dup (p.Leu142fs)
|
|
|
NM_001042492.3(NF1):c.4261C>G (p.Pro1421Ala)
|
rs1347152182
|
|
NM_001042492.3(NF1):c.4261C>T (p.Pro1421Ser)
|
rs1347152182
|
|
NM_001042492.3(NF1):c.4262C>G (p.Pro1421Arg)
|
rs753997885
|
|
NM_001042492.3(NF1):c.4262del (p.Pro1421fs)
|
rs1567861977
|
|
NM_001042492.3(NF1):c.4263G>T (p.Pro1421=)
|
rs201648604
|
|
NM_001042492.3(NF1):c.4263del (p.Tyr1422fs)
|
rs1555618542
|
|
NM_001042492.3(NF1):c.4264T>A (p.Tyr1422Asn)
|
|
|
NM_001042492.3(NF1):c.4264T>C (p.Tyr1422His)
|
rs17884349
|
|
NM_001042492.3(NF1):c.4264dup (p.Tyr1422fs)
|
|
|
NM_001042492.3(NF1):c.4266T>C (p.Tyr1422=)
|
|
|
NM_001042492.3(NF1):c.4266T>G (p.Tyr1422Ter)
|
rs2151462060
|
|
NM_001042492.3(NF1):c.4267G>A (p.Glu1423Lys)
|
rs2067622976
|
|
NM_001042492.3(NF1):c.426A>G (p.Leu142=)
|
rs2065794926
|
|
NM_001042492.3(NF1):c.4271C>A (p.Ala1424Glu)
|
rs2067623060
|
|
NM_001042492.3(NF1):c.4274G>A (p.Gly1425Glu)
|
rs1555618547
|
|
NM_001042492.3(NF1):c.4275G>A (p.Gly1425=)
|
rs1555618548
|
|
NM_001042492.3(NF1):c.4275_4332+8del
|
|
|
NM_001042492.3(NF1):c.4275del (p.Ile1426fs)
|
|
|
NM_001042492.3(NF1):c.4275dup (p.Ile1426fs)
|
rs2067623178
|
|
NM_001042492.3(NF1):c.4276A>G (p.Ile1426Val)
|
|
|
NM_001042492.3(NF1):c.4277T>C (p.Ile1426Thr)
|
rs1555618549
|
|
NM_001042492.3(NF1):c.427T>C (p.Phe143Leu)
|
rs2065794956
|
|
NM_001042492.3(NF1):c.4280T>G (p.Leu1427Ter)
|
rs1177433867
|
|
NM_001042492.3(NF1):c.4280dup (p.Leu1427fs)
|
rs2151462078
|
|
NM_001042492.3(NF1):c.4282G>T (p.Asp1428Tyr)
|
rs2151462089
|
|
NM_001042492.3(NF1):c.4283A>G (p.Asp1428Gly)
|
|
|
NM_001042492.3(NF1):c.4283_4290del (p.Asp1428fs)
|
|
|
NM_001042492.3(NF1):c.4284T>A (p.Asp1428Glu)
|
|
|
NM_001042492.3(NF1):c.4284T>C (p.Asp1428=)
|
rs1555618550
|
|
NM_001042492.3(NF1):c.4284del (p.Asp1428fs)
|
|
|
NM_001042492.3(NF1):c.4285A>T (p.Lys1429Ter)
|
rs758915600
|
|
NM_001042492.3(NF1):c.4287A>G (p.Lys1429=)
|
|
|
NM_001042492.3(NF1):c.4288A>C (p.Lys1430Gln)
|
rs2151462099
|
|
NM_001042492.3(NF1):c.4289A>G (p.Lys1430Arg)
|
|
|
NM_001042492.3(NF1):c.4290G>C (p.Lys1430Asn)
|
|
|
NM_001042492.3(NF1):c.4290G>T (p.Lys1430Asn)
|
rs373086572
|
|
NM_001042492.3(NF1):c.4290_4291delinsCT (p.Lys1430_Pro1431delinsAsnSer)
|
rs1567862024
|
|
NM_001042492.3(NF1):c.4291C>T (p.Pro1431Ser)
|
|
|
NM_001042492.3(NF1):c.4292C>T (p.Pro1431Leu)
|
rs2067623603
|
|
NM_001042492.3(NF1):c.4292_4293insGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGACTAAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGCC (p.Pro1431_Pro1432insAlaGlyArgSerGlySerArgLeuTer)
|
|
|
NM_001042492.3(NF1):c.4293_4294dup (p.Pro1432fs)
|
rs1555618552
|
|
NM_001042492.3(NF1):c.4294C>T (p.Pro1432Ser)
|
rs1597744750
|
|
NM_001042492.3(NF1):c.4296A>C (p.Pro1432=)
|
rs864622492
|
|
NM_001042492.3(NF1):c.4297C>A (p.Pro1433Thr)
|
|
|
NM_001042492.3(NF1):c.4298C>A (p.Pro1433His)
|
|
|
NM_001042492.3(NF1):c.4298C>G (p.Pro1433Arg)
|
rs1310048288
|
|
NM_001042492.3(NF1):c.4298_4299insA (p.Pro1433_Arg1434insTer)
|
|
|
NM_001042492.3(NF1):c.4298_4305dup (p.Glu1436fs)
|
|
|
NM_001042492.3(NF1):c.4298del (p.Pro1433fs)
|
rs2067623782
|
|
NM_001042492.3(NF1):c.4300A>G (p.Arg1434Gly)
|
rs2067623934
|
|
NM_001042492.3(NF1):c.4300A>T (p.Arg1434Ter)
|
rs2067623934
|
|
NM_001042492.3(NF1):c.4301G>T (p.Arg1434Ile)
|
rs1597744780
|
|
NM_001042492.3(NF1):c.4302A>G (p.Arg1434=)
|
rs1209779641
|
|
NM_001042492.3(NF1):c.4303A>T (p.Ile1435Phe)
|
|
|
NM_001042492.3(NF1):c.4303_4333-241delinsGGA
|
rs2151462146
|
|
NM_001042492.3(NF1):c.4303del (p.Ile1435fs)
|
|
|
NM_001042492.3(NF1):c.4304_4305dup (p.Glu1436fs)
|
|
|
NM_001042492.3(NF1):c.4305C>G (p.Ile1435Met)
|
|
|
NM_001042492.3(NF1):c.4305C>T (p.Ile1435=)
|
rs779865988
|
|
NM_001042492.3(NF1):c.4306G>T (p.Glu1436Ter)
|
rs876660428
|
|
NM_001042492.3(NF1):c.4307A>T (p.Glu1436Val)
|
|
|
NM_001042492.3(NF1):c.4309A>T (p.Arg1437Trp)
|
rs1555618558
|
|
NM_001042492.3(NF1):c.4309dup (p.Arg1437fs)
|
|
|
NM_001042492.3(NF1):c.430dup (p.Ser144fs)
|
|
|
NM_001042492.3(NF1):c.4310G>A (p.Arg1437Lys)
|
rs1567862061
|
|
NM_001042492.3(NF1):c.4311G>A (p.Arg1437=)
|
rs1060503896
|
|
NM_001042492.3(NF1):c.4311G>C (p.Arg1437Ser)
|
|
|
NM_001042492.3(NF1):c.4312G>A (p.Gly1438Ser)
|
rs1555618559
|
|
NM_001042492.3(NF1):c.4312G>T (p.Gly1438Cys)
|
rs1555618559
|
|
NM_001042492.3(NF1):c.4313G>A (p.Gly1438Asp)
|
|
|
NM_001042492.3(NF1):c.4313G>C (p.Gly1438Ala)
|
rs748901190
|
|
NM_001042492.3(NF1):c.4313G>T (p.Gly1438Val)
|
rs748901190
|
|
NM_001042492.3(NF1):c.4313del (p.Gly1438fs)
|
rs2151462156
|
|
NM_001042492.3(NF1):c.4315T>A (p.Leu1439Met)
|
rs1555618562
|
|
NM_001042492.3(NF1):c.4315T>C (p.Leu1439=)
|
|
|
NM_001042492.3(NF1):c.4316T>A (p.Leu1439Ter)
|
rs1567862071
|
|
NM_001042492.3(NF1):c.4316T>C (p.Leu1439Ser)
|
rs1567862071
|
|
NM_001042492.3(NF1):c.4316T>G (p.Leu1439Trp)
|
rs1567862071
|
|
NM_001042492.3(NF1):c.4316dup (p.Leu1439fs)
|
|
|
NM_001042492.3(NF1):c.4318A>G (p.Lys1440Glu)
|
rs199474790
|
|
NM_001042492.3(NF1):c.4319A>G (p.Lys1440Arg)
|
rs199474788
|
|
NM_001042492.3(NF1):c.431C>T (p.Ser144Phe)
|
rs2065795028
|
|
NM_001042492.3(NF1):c.4320G>A (p.Lys1440=)
|
|
|
NM_001042492.3(NF1):c.4321T>A (p.Leu1441Ile)
|
rs786201458
|
|
NM_001042492.3(NF1):c.4321T>C (p.Leu1441=)
|
rs786201458
|
|
NM_001042492.3(NF1):c.4321T>G (p.Leu1441Val)
|
|
|
NM_001042492.3(NF1):c.4321_4322insATT (p.Lys1440_Leu1441insTyr)
|
|
|
NM_001042492.3(NF1):c.4322T>C (p.Leu1441Ser)
|
|
|
NM_001042492.3(NF1):c.4322T>G (p.Leu1441Ter)
|
|
|
NM_001042492.3(NF1):c.4324del (p.Met1442fs)
|
rs1135402856
|
|
NM_001042492.3(NF1):c.4327del (p.Ser1443fs)
|
rs2151462210
|
|
NM_001042492.3(NF1):c.4328C>G (p.Ser1443Ter)
|
rs1555618566
|
|
NM_001042492.3(NF1):c.4328C>T (p.Ser1443Leu)
|
rs1555618566
|
|
NM_001042492.3(NF1):c.4329A>G (p.Ser1443=)
|
|
|
NM_001042492.3(NF1):c.432T>C (p.Ser144=)
|
rs2143673083
|
|
NM_001042492.3(NF1):c.4330A>C (p.Lys1444Gln)
|
rs137854550
|
|
NM_001042492.3(NF1):c.4330A>T (p.Lys1444Ter)
|
rs137854550
|
|
NM_001042492.3(NF1):c.4331A>C (p.Lys1444Thr)
|
|
|
NM_001042492.3(NF1):c.4331A>G (p.Lys1444Arg)
|
rs199474781
|
|
NM_001042492.3(NF1):c.4331A>T (p.Lys1444Met)
|
rs199474781
|
|
NM_001042492.3(NF1):c.4332+12T>C
|
|
|
NM_001042492.3(NF1):c.4332+14A>G
|
rs2151462264
|
|
NM_001042492.3(NF1):c.4332+15T>A
|
rs760471835
|
|
NM_001042492.3(NF1):c.4332+17A>C
|
|
|
NM_001042492.3(NF1):c.4332+1G>A
|
rs1555618572
|
|
NM_001042492.3(NF1):c.4332+1G>C
|
rs1555618572
|
|
NM_001042492.3(NF1):c.4332+1G>T
|
rs1555618572
|
|
NM_001042492.3(NF1):c.4332+1del
|
rs1567862095
|
|
NM_001042492.3(NF1):c.4332+20T>C
|
|
|
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.4332+3G>T
|
|
|
NM_001042492.3(NF1):c.4332+4A>C
|
|
|
NM_001042492.3(NF1):c.4332+8A>G
|
rs773883353
|
|
NM_001042492.3(NF1):c.4332G>A (p.Lys1444=)
|
rs199474750
|
|
NM_001042492.3(NF1):c.4332G>C (p.Lys1444Asn)
|
rs199474750
|
|
NM_001042492.3(NF1):c.4332G>T (p.Lys1444Asn)
|
rs199474750
|
|
NM_001042492.3(NF1):c.4333-13T>C
|
rs2151462906
|
|
NM_001042492.3(NF1):c.4333-14G>A
|
|
|
NM_001042492.3(NF1):c.4333-16_4333-15del
|
|
|
NM_001042492.3(NF1):c.4333-17C>A
|
|
|
NM_001042492.3(NF1):c.4333-17C>G
|
rs1193185429
|
|
NM_001042492.3(NF1):c.4333-19A>T
|
|
|
NM_001042492.3(NF1):c.4333-1G>A
|
rs1418965797
|
|
NM_001042492.3(NF1):c.4333-1G>C
|
rs1418965797
|
|
NM_001042492.3(NF1):c.4333-1G>T
|
rs1418965797
|
|
NM_001042492.3(NF1):c.4333-20A>G
|
rs2151462882
|
|
NM_001042492.3(NF1):c.4333-2A>C
|
rs1555618634
|
|
NM_001042492.3(NF1):c.4333-2A>G
|
rs1555618634
|
|
NM_001042492.3(NF1):c.4333-2del
|
rs886041630
|
|
NM_001042492.3(NF1):c.4333-2dup
|
|
|
NM_001042492.3(NF1):c.4333-3T>C
|
rs1597745535
|
|
NM_001042492.3(NF1):c.4333-4_4333-3del
|
|
|
NM_001042492.3(NF1):c.4333-5T>G
|
rs1455774859
|
|
NM_001042492.3(NF1):c.4333-6G>T
|
rs2151462926
|
|
NM_001042492.3(NF1):c.4333-8T>C
|
rs2151462917
|
|
NM_001042492.3(NF1):c.4333-8T>G
|
|
|
NM_001042492.3(NF1):c.4333-9A>G
|
|
|
NM_001042492.3(NF1):c.4333-9A>T
|
rs2067634979
|
|
NM_001042492.3(NF1):c.4333A>C (p.Ile1445Leu)
|
rs1555618637
|
|
NM_001042492.3(NF1):c.4333A>G (p.Ile1445Val)
|
|
|
NM_001042492.3(NF1):c.4333A>T (p.Ile1445Leu)
|
rs1555618637
|
|
NM_001042492.3(NF1):c.4334T>C (p.Ile1445Thr)
|
|
|
NM_001042492.3(NF1):c.4334T>G (p.Ile1445Arg)
|
rs1597745565
|
|
NM_001042492.3(NF1):c.4334dup (p.Leu1446fs)
|
rs2151462945
|
|
NM_001042492.3(NF1):c.4336C>G (p.Leu1446Val)
|
rs1555618639
|
|
NM_001042492.3(NF1):c.4336C>T (p.Leu1446Phe)
|
rs1555618639
|
|
NM_001042492.3(NF1):c.4337T>C (p.Leu1446Pro)
|
rs199474733
|
|
NM_001042492.3(NF1):c.4337T>G (p.Leu1446Arg)
|
|
|
NM_001042492.3(NF1):c.4338T>G (p.Leu1446=)
|
rs1597745572
|
|
NM_001042492.3(NF1):c.4339C>A (p.Gln1447Lys)
|
rs1135402857
|
|
NM_001042492.3(NF1):c.4339C>G (p.Gln1447Glu)
|
rs1135402857
|
|
NM_001042492.3(NF1):c.4339C>T (p.Gln1447Ter)
|
rs1135402857
|
|
NM_001042492.3(NF1):c.433C>G (p.Leu145Val)
|
rs786203460
|
|
NM_001042492.3(NF1):c.433C>T (p.Leu145Phe)
|
rs786203460
|
|
NM_001042492.3(NF1):c.4340A>C (p.Gln1447Pro)
|
rs786204157
|
|
NM_001042492.3(NF1):c.4340A>G (p.Gln1447Arg)
|
rs786204157
|
|
NM_001042492.3(NF1):c.4340_4341delinsCA (p.Gln1447Pro)
|
rs2067635955
|
|
NM_001042492.3(NF1):c.4341G>C (p.Gln1447His)
|
rs876660206
|
|
NM_001042492.3(NF1):c.4343del (p.Ser1448fs)
|
|
|
NM_001042492.3(NF1):c.4344T>C (p.Ser1448=)
|
rs1555618644
|
|
NM_001042492.3(NF1):c.4344T>G (p.Ser1448Arg)
|
rs1555618644
|
|
NM_001042492.3(NF1):c.4344_4345insCCT (p.Ser1448_Ile1449insPro)
|
rs1597745583
|
|
NM_001042492.3(NF1):c.4348G>A (p.Ala1450Thr)
|
rs2151462979
|
|
NM_001042492.3(NF1):c.4349C>A (p.Ala1450Asp)
|
rs2067636212
|
|
NM_001042492.3(NF1):c.4349C>T (p.Ala1450Val)
|
rs2067636212
|
|
NM_001042492.3(NF1):c.434T>C (p.Leu145Pro)
|
rs199474734
|
|
NM_001042492.3(NF1):c.434T>G (p.Leu145Arg)
|
|
|
NM_001042492.3(NF1):c.434_435del (p.Leu145fs)
|
rs2143673063
|
|
NM_001042492.3(NF1):c.434_435delinsCT (p.Leu145Pro)
|
|
|
NM_001042492.3(NF1):c.4350C>T (p.Ala1450=)
|
rs752055412
|
|
NM_001042492.3(NF1):c.4351A>C (p.Asn1451His)
|
|
|
NM_001042492.3(NF1):c.4351A>G (p.Asn1451Asp)
|
rs1567862283
|
|
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.4353T>A (p.Asn1451Lys)
|
|
|
NM_001042492.3(NF1):c.4353T>G (p.Asn1451Lys)
|
|
|
NM_001042492.3(NF1):c.4355A>G (p.His1452Arg)
|
rs1567862291
|
|
NM_001042492.3(NF1):c.4355del (p.His1452fs)
|
rs2151462997
|
|
NM_001042492.3(NF1):c.4356T>C (p.His1452=)
|
rs1391955681
|
|
NM_001042492.3(NF1):c.4357G>C (p.Val1453Leu)
|
rs199474755
|
|
NM_001042492.3(NF1):c.4357G>T (p.Val1453Phe)
|
rs199474755
|
|
NM_001042492.3(NF1):c.4358T>A (p.Val1453Asp)
|
|
|
NM_001042492.3(NF1):c.4358T>C (p.Val1453Ala)
|
rs1306807858
|
|
NM_001042492.3(NF1):c.4358_4372del (p.Val1453_Lys1457del)
|
|
|
NM_001042492.3(NF1):c.435C>G (p.Leu145=)
|
rs876659818
|
|
NM_001042492.3(NF1):c.435C>T (p.Leu145=)
|
rs876659818
|
|
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.4361T>C (p.Leu1454Pro)
|
rs2067636896
|
|
NM_001042492.3(NF1):c.4365C>T (p.Phe1455=)
|
rs1597745625
|
|
NM_001042492.3(NF1):c.4367del (p.Thr1456fs)
|
rs2067637088
|
|
NM_001042492.3(NF1):c.4368A>G (p.Thr1456=)
|
rs876659577
|
|
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.436A>G (p.Ser146Gly)
|
rs2143673178
|
|
NM_001042492.3(NF1):c.4370A>C (p.Lys1457Thr)
|
|
|
NM_001042492.3(NF1):c.4370A>G (p.Lys1457Arg)
|
rs1555618656
|
|
NM_001042492.3(NF1):c.4370A>T (p.Lys1457Ile)
|
|
|
NM_001042492.3(NF1):c.4370_4374del (p.Lys1457fs)
|
rs2151463037
|
|
NM_001042492.3(NF1):c.4371A>C (p.Lys1457Asn)
|
rs1555618658
|
|
NM_001042492.3(NF1):c.4371A>G (p.Lys1457=)
|
rs1555618658
|
|
NM_001042492.3(NF1):c.4371A>T (p.Lys1457Asn)
|
rs1555618658
|
|
NM_001042492.3(NF1):c.4372G>A (p.Glu1458Lys)
|
rs1135402858
|
|
NM_001042492.3(NF1):c.4372G>C (p.Glu1458Gln)
|
|
|
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.4372_4380del (p.Glu1458_His1460del)
|
|
|
NM_001042492.3(NF1):c.4373_4430+20delinsGCAACTGAGTAAGTGGCAAGAAAATTACCTGCATCAAAGTTGCTTTTCACAAAA
|
rs2151463053
|
|
NM_001042492.3(NF1):c.4374A>C (p.Glu1458Asp)
|
|
|
NM_001042492.3(NF1):c.4374A>G (p.Glu1458=)
|
rs1597745662
|
|
NM_001042492.3(NF1):c.4374A>T (p.Glu1458Asp)
|
|
|
NM_001042492.3(NF1):c.4375G>A (p.Glu1459Lys)
|
|
|
NM_001042492.3(NF1):c.4375G>C (p.Glu1459Gln)
|
rs1597745663
|
|
NM_001042492.3(NF1):c.4375G>T (p.Glu1459Ter)
|
rs1597745663
|
|
NM_001042492.3(NF1):c.4378C>A (p.His1460Asn)
|
rs377295676
|
|
NM_001042492.3(NF1):c.4378C>T (p.His1460Tyr)
|
rs377295676
|
|
NM_001042492.3(NF1):c.4379A>C (p.His1460Pro)
|
|
|
NM_001042492.3(NF1):c.4379A>G (p.His1460Arg)
|
rs748990989
|
|
NM_001042492.3(NF1):c.4379A>T (p.His1460Leu)
|
rs748990989
|
|
NM_001042492.3(NF1):c.4380T>C (p.His1460=)
|
rs2151463079
|
|
NM_001042492.3(NF1):c.4381A>G (p.Met1461Val)
|
rs1555618675
|
|
NM_001042492.3(NF1):c.4381A>T (p.Met1461Leu)
|
rs1555618675
|
|
NM_001042492.3(NF1):c.4381_4382del (p.Met1461fs)
|
|
|
NM_001042492.3(NF1):c.4381_4382dup (p.Met1461fs)
|
rs1135402859
|
|
NM_001042492.3(NF1):c.4381dup (p.Met1461fs)
|
rs1597745689
|
|
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.4385_4400dup (p.Phe1467delinsLeuAlaPheGlnTer)
|
|
|
NM_001042492.3(NF1):c.4387C>A (p.Pro1463Thr)
|
rs1597745703
|
|
NM_001042492.3(NF1):c.4387C>T (p.Pro1463Ser)
|
|
|
NM_001042492.3(NF1):c.4388del (p.Pro1463fs)
|
rs2151463107
|
|
NM_001042492.3(NF1):c.438C>A (p.Ser146Arg)
|
|
|
NM_001042492.3(NF1):c.438C>T (p.Ser146=)
|
rs2143673225
|
|
NM_001042492.3(NF1):c.4390T>C (p.Phe1464Leu)
|
rs2067638875
|
|
NM_001042492.3(NF1):c.4391T>C (p.Phe1464Ser)
|
|
|
NM_001042492.3(NF1):c.4392C>T (p.Phe1464=)
|
rs2067638938
|
|
NM_001042492.3(NF1):c.4394A>G (p.Asn1465Ser)
|
rs786202492
|
|
NM_001042492.3(NF1):c.4396G>T (p.Asp1466Tyr)
|
rs878853895
|
|
NM_001042492.3(NF1):c.4396_4398del (p.Asp1466del)
|
|
|
NM_001042492.3(NF1):c.4397_4423del (p.Asp1466_Ala1474del)
|
rs2151463132
|
|
NM_001042492.3(NF1):c.4398T>G (p.Asp1466Glu)
|
rs2151463134
|
|
NM_001042492.3(NF1):c.439T>C (p.Cys147Arg)
|
rs1555606104
|
|
NM_001042492.3(NF1):c.439_445dup (p.Asn149fs)
|
rs2065795260
|
|
NM_001042492.3(NF1):c.439_468dup (p.Cys147_Arg156dup)
|
rs2143673214
|
|
NM_001042492.3(NF1):c.4400T>C (p.Phe1467Ser)
|
|
|
NM_001042492.3(NF1):c.4401T>C (p.Phe1467=)
|
|
|
NM_001042492.3(NF1):c.4401T>G (p.Phe1467Leu)
|
|
|
NM_001042492.3(NF1):c.4401del (p.Phe1467fs)
|
|
|
NM_001042492.3(NF1):c.4401dup (p.Val1468fs)
|
|
|
NM_001042492.3(NF1):c.4402G>A (p.Val1468Met)
|
rs876660320
|
|
NM_001042492.3(NF1):c.4402del (p.Phe1467_Val1468insTer)
|
rs2151463141
|
|
NM_001042492.3(NF1):c.4403T>G (p.Val1468Gly)
|
rs1135402860
|
|
NM_001042492.3(NF1):c.4404G>A (p.Val1468=)
|
|
|
NM_001042492.3(NF1):c.4404del (p.Ser1470fs)
|
rs1597745728
|
|
NM_001042492.3(NF1):c.4407A>G (p.Lys1469=)
|
|
|
NM_001042492.3(NF1):c.4408dup (p.Ser1470fs)
|
|
|
NM_001042492.3(NF1):c.440_441insA (p.Cys147Ter)
|
|
|
NM_001042492.3(NF1):c.4410del (p.Ser1470fs)
|
rs2151463168
|
|
NM_001042492.3(NF1):c.4411_4416del (p.Asn1471_Phe1472del)
|
rs2151463175
|
|
NM_001042492.3(NF1):c.4412A>C (p.Asn1471Thr)
|
rs876658250
|
|
NM_001042492.3(NF1):c.4412A>G (p.Asn1471Ser)
|
rs876658250
|
|
NM_001042492.3(NF1):c.4414_4415insCACAACT (p.Phe1472fs)
|
|
|
NM_001042492.3(NF1):c.4415T>C (p.Phe1472Ser)
|
|
|
NM_001042492.3(NF1):c.4416T>C (p.Phe1472=)
|
|
|
NM_001042492.3(NF1):c.4419T>C (p.Asp1473=)
|
rs2151463195
|
|
NM_001042492.3(NF1):c.441C>A (p.Cys147Ter)
|
rs1597636022
|
|
NM_001042492.3(NF1):c.4420dup (p.Ala1474fs)
|
rs2151463199
|
|
NM_001042492.3(NF1):c.4421_4424dup (p.Arg1476fs)
|
|
|
NM_001042492.3(NF1):c.4421del (p.Ala1474fs)
|
|
|
NM_001042492.3(NF1):c.4422A>G (p.Ala1474=)
|
|
|
NM_001042492.3(NF1):c.4424C>T (p.Ala1475Val)
|
rs2151463210
|
|
NM_001042492.3(NF1):c.4425A>G (p.Ala1475=)
|
rs1597745756
|
|
NM_001042492.3(NF1):c.4427G>A (p.Arg1476His)
|
rs1555618691
|
|
NM_001042492.3(NF1):c.4427G>T (p.Arg1476Leu)
|
rs1555618691
|
|
NM_001042492.3(NF1):c.4428C>T (p.Arg1476=)
|
rs2067640114
|
|
NM_001042492.3(NF1):c.4429A>G (p.Arg1477Gly)
|
rs2067640173
|
|
NM_001042492.3(NF1):c.4430+10T>C
|
rs1597745779
|
|
NM_001042492.3(NF1):c.4430+13C>A
|
rs2067640527
|
|
NM_001042492.3(NF1):c.4430+14del
|
rs774927748
|
|
NM_001042492.3(NF1):c.4430+19dup
|
rs2151463275
|
|
NM_001042492.3(NF1):c.4430+1G>A
|
rs773151680
|
|
NM_001042492.3(NF1):c.4430+1G>C
|
rs773151680
|
|
NM_001042492.3(NF1):c.4430+1G>T
|
rs773151680
|
|
NM_001042492.3(NF1):c.4430+20C>G
|
rs2151463278
|
|
NM_001042492.3(NF1):c.4430+20_4430+23del
|
rs2151463277
|
|
NM_001042492.3(NF1):c.4430+2T>C
|
rs1555618693
|
|
NM_001042492.3(NF1):c.4430+4A>C
|
|
|
NM_001042492.3(NF1):c.4430+6T>A
|
rs1567862378
|
|
NM_001042492.3(NF1):c.4430+7T>C
|
rs2151463242
|
|
NM_001042492.3(NF1):c.4430+8T>C
|
rs2151463245
|
|
NM_001042492.3(NF1):c.4430+8T>G
|
rs2151463245
|
|
NM_001042492.3(NF1):c.4430G>A (p.Arg1477Lys)
|
rs1060500293
|
|
NM_001042492.3(NF1):c.4430G>C (p.Arg1477Thr)
|
rs1060500293
|
|
NM_001042492.3(NF1):c.4431-10A>G
|
|
|
NM_001042492.3(NF1):c.4431-11C>T
|
rs2151464472
|
|
NM_001042492.3(NF1):c.4431-12G>A
|
|
|
NM_001042492.3(NF1):c.4431-13T>C
|
|
|
NM_001042492.3(NF1):c.4431-13del
|
|
|
NM_001042492.3(NF1):c.4431-13dup
|
|
|
NM_001042492.3(NF1):c.4431-14T>C
|
rs1157589742
|
|
NM_001042492.3(NF1):c.4431-14_4431-13del
|
|
|
NM_001042492.3(NF1):c.4431-16C>G
|
|
|
NM_001042492.3(NF1):c.4431-16C>T
|
rs2151464452
|
|
NM_001042492.3(NF1):c.4431-17A>G
|
|
|
NM_001042492.3(NF1):c.4431-19T>A
|
|
|
NM_001042492.3(NF1):c.4431-19T>C
|
|
|
NM_001042492.3(NF1):c.4431-1G>A
|
rs1597746891
|
|
NM_001042492.3(NF1):c.4431-1G>C
|
|
|
NM_001042492.3(NF1):c.4431-1G>T
|
rs1597746891
|
|
NM_001042492.3(NF1):c.4431-2A>G
|
rs2151464490
|
|
NM_001042492.3(NF1):c.4431-4G>C
|
rs2151464485
|
|
NM_001042492.3(NF1):c.4431-4G>T
|
|
|
NM_001042492.3(NF1):c.4431-6T>C
|
rs2151464480
|
|
NM_001042492.3(NF1):c.4431-8T>C
|
rs1555618801
|
|
NM_001042492.3(NF1):c.4431-9T>G
|
rs1597746884
|
|
NM_001042492.3(NF1):c.4431G>A (p.Arg1477=)
|
rs181462219
|
|
NM_001042492.3(NF1):c.4431G>T (p.Arg1477Ser)
|
rs181462219
|
|
NM_001042492.3(NF1):c.4432T>C (p.Phe1478Leu)
|
|
|
NM_001042492.3(NF1):c.4432_4433insAA (p.Phe1478Ter)
|
rs2151464499
|
|
NM_001042492.3(NF1):c.4433T>A (p.Phe1478Tyr)
|
|
|
NM_001042492.3(NF1):c.4433T>G (p.Phe1478Cys)
|
rs1597746900
|
|
NM_001042492.3(NF1):c.4436T>C (p.Phe1479Ser)
|
rs2067662458
|
|
NM_001042492.3(NF1):c.4436del (p.Phe1479fs)
|
rs1555618803
|
|
NM_001042492.3(NF1):c.4436dup (p.Leu1480fs)
|
rs1555618803
|
|
NM_001042492.3(NF1):c.4437C>A (p.Phe1479Leu)
|
rs757953485
|
|
NM_001042492.3(NF1):c.4438del (p.Asp1481fs)
|
rs1555618806
|
|
NM_001042492.3(NF1):c.4442A>G (p.Asp1481Gly)
|
rs777229737
|
|
NM_001042492.3(NF1):c.4442del (p.Asp1481fs)
|
|
|
NM_001042492.3(NF1):c.4444A>G (p.Ile1482Val)
|
rs1060500362
|
|
NM_001042492.3(NF1):c.4444dup (p.Ile1482fs)
|
rs2151464529
|
|
NM_001042492.3(NF1):c.4445T>A (p.Ile1482Lys)
|
|
|
NM_001042492.3(NF1):c.4445T>G (p.Ile1482Arg)
|
rs746994734
|
|
NM_001042492.3(NF1):c.4447G>A (p.Ala1483Thr)
|
rs1555618808
|
|
NM_001042492.3(NF1):c.4447G>T (p.Ala1483Ser)
|
rs1555618808
|
|
NM_001042492.3(NF1):c.4448C>G (p.Ala1483Gly)
|
rs564989006
|
|
NM_001042492.3(NF1):c.4449A>G (p.Ala1483=)
|
rs1237298231
|
|
NM_001042492.3(NF1):c.4449A>T (p.Ala1483=)
|
rs1237298231
|
|
NM_001042492.3(NF1):c.4450T>A (p.Ser1484Thr)
|
|
|
NM_001042492.3(NF1):c.4450T>C (p.Ser1484Pro)
|
rs2067662922
|
|
NM_001042492.3(NF1):c.4452T>C (p.Ser1484=)
|
rs2151464555
|
|
NM_001042492.3(NF1):c.4452_4456del (p.Asp1485fs)
|
|
|
NM_001042492.3(NF1):c.4453G>T (p.Asp1485Tyr)
|
rs2067662991
|
|
NM_001042492.3(NF1):c.4453dup (p.Asp1485fs)
|
|
|
NM_001042492.3(NF1):c.4454A>G (p.Asp1485Gly)
|
rs1279391103
|
|
NM_001042492.3(NF1):c.4455T>C (p.Asp1485=)
|
rs186556778
|
|
NM_001042492.3(NF1):c.4455T>G (p.Asp1485Glu)
|
|
|
NM_001042492.3(NF1):c.4456T>C (p.Cys1486Arg)
|
|
|
NM_001042492.3(NF1):c.4456del (p.Cys1486fs)
|
rs1567862860
|
|
NM_001042492.3(NF1):c.4457del (p.Cys1486fs)
|
|
|
NM_001042492.3(NF1):c.4459C>T (p.Pro1487Ser)
|
rs1265291141
|
|
NM_001042492.3(NF1):c.445A>G (p.Asn149Asp)
|
rs750974024
|
|
NM_001042492.3(NF1):c.4460del (p.Pro1487fs)
|
rs1135402861
|
|
NM_001042492.3(NF1):c.4462A>C (p.Thr1488Pro)
|
rs876660162
|
|
NM_001042492.3(NF1):c.4462A>G (p.Thr1488Ala)
|
rs876660162
|
|
NM_001042492.3(NF1):c.4463C>A (p.Thr1488Lys)
|
|
|
NM_001042492.3(NF1):c.4463C>T (p.Thr1488Ile)
|
rs1597746958
|
|
NM_001042492.3(NF1):c.4463del (p.Thr1488fs)
|
rs1597746962
|
|
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly)
|
rs199474743
|
|
NM_001042492.3(NF1):c.4466G>A (p.Ser1489Asn)
|
rs2067663434
|
|
NM_001042492.3(NF1):c.4467T>C (p.Ser1489=)
|
rs2151464603
|
|
NM_001042492.3(NF1):c.4469A>G (p.Asp1490Gly)
|
rs2067663471
|
|
NM_001042492.3(NF1):c.446A>C (p.Asn149Thr)
|
rs2143673370
|
|
NM_001042492.3(NF1):c.446A>G (p.Asn149Ser)
|
rs2143673370
|
|
NM_001042492.3(NF1):c.4470T>A (p.Asp1490Glu)
|
rs745678532
|
|
NM_001042492.3(NF1):c.4471G>A (p.Ala1491Thr)
|
rs2067663552
|
|
NM_001042492.3(NF1):c.4472C>T (p.Ala1491Val)
|
rs876658334
|
|
NM_001042492.3(NF1):c.4473A>C (p.Ala1491=)
|
rs2067663618
|
|
NM_001042492.3(NF1):c.4473A>G (p.Ala1491=)
|
rs2067663618
|
|
NM_001042492.3(NF1):c.4475T>C (p.Val1492Ala)
|
rs2067663652
|
|
NM_001042492.3(NF1):c.4476A>C (p.Val1492=)
|
rs1597746972
|
|
NM_001042492.3(NF1):c.4476A>G (p.Val1492=)
|
rs1597746972
|
|
NM_001042492.3(NF1):c.4478A>G (p.Asn1493Ser)
|
rs1597746976
|
|
NM_001042492.3(NF1):c.4478_4485del (p.Asn1493fs)
|
rs2151464627
|
|
NM_001042492.3(NF1):c.4479T>C (p.Asn1493=)
|
rs1060503888
|
|
NM_001042492.3(NF1):c.4481A>G (p.His1494Arg)
|
rs769417700
|
|
NM_001042492.3(NF1):c.4481del (p.His1494fs)
|
rs1597746982
|
|
NM_001042492.3(NF1):c.4482T>C (p.His1494=)
|
rs2151464642
|
|
NM_001042492.3(NF1):c.4482_4483del (p.His1494fs)
|
rs1555618821
|
|
NM_001042492.3(NF1):c.4483A>C (p.Ser1495Arg)
|
|
|
NM_001042492.3(NF1):c.4483_4484insC (p.Ser1495fs)
|
|
|
NM_001042492.3(NF1):c.4483dup (p.Ser1495fs)
|
rs878853896
|
|
NM_001042492.3(NF1):c.4486C>G (p.Leu1496Val)
|
|
|
NM_001042492.3(NF1):c.4486C>T (p.Leu1496Phe)
|
rs1555618823
|
|
NM_001042492.3(NF1):c.4487_4490del (p.Leu1496fs)
|
rs2151464653
|
|
NM_001042492.3(NF1):c.4489_4493del (p.Ser1497fs)
|
|
|
NM_001042492.3(NF1):c.4489del (p.Ser1497fs)
|
rs2067664000
|
|
NM_001042492.3(NF1):c.4489dup (p.Ser1497fs)
|
|
|
NM_001042492.3(NF1):c.448T>G (p.Phe150Val)
|
|
|
NM_001042492.3(NF1):c.4490C>T (p.Ser1497Phe)
|
rs1597746999
|
|
NM_001042492.3(NF1):c.4491C>T (p.Ser1497=)
|
rs1555618826
|
|
NM_001042492.3(NF1):c.4494del (p.Phe1498fs)
|
|
|
NM_001042492.3(NF1):c.4495A>C (p.Ile1499Leu)
|
rs764654925
|
|
NM_001042492.3(NF1):c.4495delinsTG (p.Ile1499fs)
|
rs1597747012
|
|
NM_001042492.3(NF1):c.4497A>T (p.Ile1499=)
|
rs1597747016
|
|
NM_001042492.3(NF1):c.4498A>G (p.Ser1500Gly)
|
rs1135402862
|
|
NM_001042492.3(NF1):c.449del (p.Phe150fs)
|
rs1567817974
|
|
NM_001042492.3(NF1):c.4500T>C (p.Ser1500=)
|
rs775018971
|
|
NM_001042492.3(NF1):c.4500dup (p.Asp1501Ter)
|
|
|
NM_001042492.3(NF1):c.4501G>A (p.Asp1501Asn)
|
rs2067664389
|
|
NM_001042492.3(NF1):c.4502_4503delinsTT (p.Asp1501Val)
|
|
|
NM_001042492.3(NF1):c.4504_4505delinsAA (p.Gly1502Asn)
|
|
|
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His)
|
rs1555618837
|
|
NM_001042492.3(NF1):c.4507A>G (p.Asn1503Asp)
|
|
|
NM_001042492.3(NF1):c.4509T>C (p.Asn1503=)
|
|
|
NM_001042492.3(NF1):c.4509dup (p.Val1504fs)
|
rs2151464701
|
|
NM_001042492.3(NF1):c.450C>A (p.Phe150Leu)
|
rs202142624
|
|
NM_001042492.3(NF1):c.450C>T (p.Phe150=)
|
rs202142624
|
|
NM_001042492.3(NF1):c.450del (p.Phe150fs)
|
|
|
NM_001042492.3(NF1):c.4510G>A (p.Val1504Met)
|
rs1555618839
|
|
NM_001042492.3(NF1):c.4510del (p.Val1504fs)
|
rs2151464705
|
|
NM_001042492.3(NF1):c.4512G>T (p.Val1504=)
|
rs1597747038
|
|
NM_001042492.3(NF1):c.4515del (p.Ala1506fs)
|
rs2151464719
|
|
NM_001042492.3(NF1):c.4516G>C (p.Ala1506Pro)
|
|
|
NM_001042492.3(NF1):c.4516_4517delinsTT (p.Ala1506Phe)
|
rs1567862930
|
|
NM_001042492.3(NF1):c.4518_4544dup (p.Asn1514_Gln1515insHisLeuHisArgLeuLeuTrpAsnAsn)
|
|
|
NM_001042492.3(NF1):c.451A>G (p.Asn151Asp)
|
rs769391944
|
|
NM_001042492.3(NF1):c.4520T>G (p.Leu1507Ter)
|
rs1135402863
|
|
NM_001042492.3(NF1):c.4520del (p.Leu1507fs)
|
rs2151464729
|
|
NM_001042492.3(NF1):c.4521dup (p.His1508fs)
|
rs2067664784
|
|
NM_001042492.3(NF1):c.4522C>G (p.His1508Asp)
|
rs1393895345
|
|
NM_001042492.3(NF1):c.4523A>G (p.His1508Arg)
|
rs1254695587
|
|
NM_001042492.3(NF1):c.4525C>T (p.Arg1509Cys)
|
rs864622348
|
|
NM_001042492.3(NF1):c.4525del (p.Arg1509fs)
|
|
|
NM_001042492.3(NF1):c.4526_4533del (p.Arg1509fs)
|
|
|
NM_001042492.3(NF1):c.4526del (p.Arg1509fs)
|
rs1567862956
|
|
NM_001042492.3(NF1):c.4529T>C (p.Leu1510Pro)
|
rs1597747078
|
|
NM_001042492.3(NF1):c.4529T>G (p.Leu1510Arg)
|
|
|
NM_001042492.3(NF1):c.4529_4543del (p.Leu1510_Asn1514del)
|
rs1555618846
|
|
NM_001042492.3(NF1):c.4530A>C (p.Leu1510=)
|
rs876660089
|
|
NM_001042492.3(NF1):c.4530A>G (p.Leu1510=)
|
rs876660089
|
|
NM_001042492.3(NF1):c.4530_4531insATA (p.Leu1510_Leu1511insIle)
|
|
|
NM_001042492.3(NF1):c.4531C>G (p.Leu1511Val)
|
rs2067665189
|
|
NM_001042492.3(NF1):c.4531C>T (p.Leu1511Phe)
|
rs2067665189
|
|
NM_001042492.3(NF1):c.4532T>C (p.Leu1511Pro)
|
rs1135402864
|
|
NM_001042492.3(NF1):c.4532T>G (p.Leu1511Arg)
|
rs1135402864
|
|
NM_001042492.3(NF1):c.4532_4533delinsAT (p.Leu1511His)
|
|
|
NM_001042492.3(NF1):c.4533C>G (p.Leu1511=)
|
rs1462064585
|
|
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.4538A>G (p.Asn1513Ser)
|
rs113205862
|
|
NM_001042492.3(NF1):c.4539C>G (p.Asn1513Lys)
|
rs2067665418
|
|
NM_001042492.3(NF1):c.453T>C (p.Asn151=)
|
|
|
NM_001042492.3(NF1):c.4540A>C (p.Asn1514His)
|
rs864622404
|
|
NM_001042492.3(NF1):c.4540A>G (p.Asn1514Asp)
|
rs864622404
|
|
NM_001042492.3(NF1):c.4541_4544del (p.Asn1514fs)
|
|
|
NM_001042492.3(NF1):c.4543C>A (p.Gln1515Lys)
|
|
|
NM_001042492.3(NF1):c.4543C>T (p.Gln1515Ter)
|
rs1567862991
|
|
NM_001042492.3(NF1):c.4544A>G (p.Gln1515Arg)
|
rs1135402865
|
|
NM_001042492.3(NF1):c.4545G>A (p.Gln1515=)
|
rs1597747124
|
|
NM_001042492.3(NF1):c.4546G>T (p.Glu1516Ter)
|
rs786203390
|
|
NM_001042492.3(NF1):c.4548G>C (p.Glu1516Asp)
|
rs1567863000
|
|
NM_001042492.3(NF1):c.4548G>T (p.Glu1516Asp)
|
rs1567863000
|
|
NM_001042492.3(NF1):c.4549A>G (p.Lys1517Glu)
|
rs2067665710
|
|
NM_001042492.3(NF1):c.454G>A (p.Ala152Thr)
|
rs2065795636
|
|
NM_001042492.3(NF1):c.454dup (p.Ala152fs)
|
rs2065795669
|
|
NM_001042492.3(NF1):c.4550A>C (p.Lys1517Thr)
|
|
|
NM_001042492.3(NF1):c.4551A>G (p.Lys1517=)
|
rs2151464808
|
|
NM_001042492.3(NF1):c.4552dup (p.Ile1518fs)
|
|
|
NM_001042492.3(NF1):c.4553T>C (p.Ile1518Thr)
|
|
|
NM_001042492.3(NF1):c.4554T>C (p.Ile1518=)
|
rs1597747129
|
|
NM_001042492.3(NF1):c.4554dup (p.Gly1519fs)
|
|
|
NM_001042492.3(NF1):c.4555G>A (p.Gly1519Arg)
|
rs1060500380
|
|
NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu)
|
rs1567863004
|
|
NM_001042492.3(NF1):c.4557G>A (p.Gly1519=)
|
|
|
NM_001042492.3(NF1):c.4557_4558delinsTA (p.Gln1520Lys)
|
|
|
NM_001042492.3(NF1):c.4558C>T (p.Gln1520Ter)
|
rs1060500242
|
|
NM_001042492.3(NF1):c.4559del (p.Gln1520fs)
|
|
|
NM_001042492.3(NF1):c.4560G>A (p.Gln1520=)
|
rs1555618859
|
|
NM_001042492.3(NF1):c.4560G>C (p.Gln1520His)
|
rs1555618859
|
|
NM_001042492.3(NF1):c.4560G>T (p.Gln1520His)
|
rs1555618859
|
|
NM_001042492.3(NF1):c.4561del (p.Tyr1521fs)
|
rs2151464832
|
|
NM_001042492.3(NF1):c.4561dup (p.Tyr1521fs)
|
|
|
NM_001042492.3(NF1):c.4562A>G (p.Tyr1521Cys)
|
rs2067665932
|
|
NM_001042492.3(NF1):c.4563T>G (p.Tyr1521Ter)
|
rs2151464836
|
|
NM_001042492.3(NF1):c.4563del (p.Leu1522fs)
|
rs2151464837
|
|
NM_001042492.3(NF1):c.4565T>C (p.Leu1522Pro)
|
|
|
NM_001042492.3(NF1):c.4567T>C (p.Ser1523Pro)
|
|
|
NM_001042492.3(NF1):c.4568C>A (p.Ser1523Tyr)
|
|
|
NM_001042492.3(NF1):c.4569C>G (p.Ser1523=)
|
rs1597747154
|
|
NM_001042492.3(NF1):c.4569C>T (p.Ser1523=)
|
|
|
NM_001042492.3(NF1):c.456A>C (p.Ala152=)
|
rs377481833
|
|
NM_001042492.3(NF1):c.456_459del (p.Val153fs)
|
|
|
NM_001042492.3(NF1):c.4570A>G (p.Ser1524Gly)
|
rs2151464855
|
|
NM_001042492.3(NF1):c.4571_4572delinsAA (p.Ser1524Lys)
|
rs1555618860
|
|
NM_001042492.3(NF1):c.4572C>A (p.Ser1524Arg)
|
rs1597747170
|
|
NM_001042492.3(NF1):c.4573A>G (p.Asn1525Asp)
|
rs1555618861
|
|
NM_001042492.3(NF1):c.4574dup (p.Asn1525fs)
|
rs1555618862
|
|
NM_001042492.3(NF1):c.4575C>T (p.Asn1525=)
|
rs2151464873
|
|
NM_001042492.3(NF1):c.4577+10C>G
|
|
|
NM_001042492.3(NF1):c.4577+13A>G
|
|
|
NM_001042492.3(NF1):c.4577+13A>T
|
|
|
NM_001042492.3(NF1):c.4577+16C>T
|
|
|
NM_001042492.3(NF1):c.4577+1G>A
|
rs1279529138
|
|
NM_001042492.3(NF1):c.4577+1G>C
|
rs1279529138
|
|
NM_001042492.3(NF1):c.4577+1G>T
|
rs1279529138
|
|
NM_001042492.3(NF1):c.4577+20G>A
|
|
|
NM_001042492.3(NF1):c.4577+2T>C
|
rs1597747184
|
|
NM_001042492.3(NF1):c.4577+2T>G
|
rs1597747184
|
|
NM_001042492.3(NF1):c.4577+2dup
|
rs2067666266
|
|
NM_001042492.3(NF1):c.4577+4A>G
|
rs1555618863
|
|
NM_001042492.3(NF1):c.4577+4del
|
|
|
NM_001042492.3(NF1):c.4577+6A>G
|
rs2067666398
|
|
NM_001042492.3(NF1):c.4577+7T>C
|
rs2151464892
|
|
NM_001042492.3(NF1):c.4577+9del
|
rs772339679
|
|
NM_001042492.3(NF1):c.4577G>A (p.Arg1526Lys)
|
|
|
NM_001042492.3(NF1):c.4578-12dup
|
rs1597748630
|
|
NM_001042492.3(NF1):c.4578-13T>G
|
|
|
NM_001042492.3(NF1):c.4578-15G>A
|
rs2151466123
|
|
NM_001042492.3(NF1):c.4578-16A>G
|
rs2067688866
|
|
NM_001042492.3(NF1):c.4578-17T>C
|
|
|
NM_001042492.3(NF1):c.4578-19A>C
|
|
|
NM_001042492.3(NF1):c.4578-19A>G
|
rs1555618994
|
|
NM_001042492.3(NF1):c.4578-1G>A
|
rs1555618999
|
|
NM_001042492.3(NF1):c.4578-1G>C
|
rs1555618999
|
|
NM_001042492.3(NF1):c.4578-1G>T
|
rs1555618999
|
|
NM_001042492.3(NF1):c.4578-20_4578-18del
|
rs1597748617
|
|
NM_001042492.3(NF1):c.4578-21T>C
|
rs1597748607
|
|
NM_001042492.3(NF1):c.4578-2A>C
|
rs1555618996
|
|
NM_001042492.3(NF1):c.4578-2A>G
|
rs1555618996
|
|
NM_001042492.3(NF1):c.4578-3T>A
|
rs1597748656
|
|
NM_001042492.3(NF1):c.4578-3T>G
|
rs1597748656
|
|
NM_001042492.3(NF1):c.4578-3del
|
rs1597748663
|
|
NM_001042492.3(NF1):c.4578-6A>G
|
|
|
NM_001042492.3(NF1):c.4578-7T>A
|
rs2067689107
|
|
NM_001042492.3(NF1):c.4578-8G>A
|
rs375758486
|
|
NM_001042492.3(NF1):c.4578-8G>C
|
rs375758486
|
|
NM_001042492.3(NF1):c.4578-9T>A
|
rs2067688959
|
|
NM_001042492.3(NF1):c.4578-9T>C
|
|
|
NM_001042492.3(NF1):c.4578G>T (p.Arg1526Ser)
|
rs1356757316
|
|
NM_001042492.3(NF1):c.4579G>A (p.Asp1527Asn)
|
|
|
NM_001042492.3(NF1):c.4579G>T (p.Asp1527Tyr)
|
rs587781542
|
|
NM_001042492.3(NF1):c.4580A>T (p.Asp1527Val)
|
|
|
NM_001042492.3(NF1):c.4581del (p.His1528fs)
|
rs1597748682
|
|
NM_001042492.3(NF1):c.4584T>C (p.His1528=)
|
|
|
NM_001042492.3(NF1):c.4585A>G (p.Lys1529Glu)
|
|
|
NM_001042492.3(NF1):c.4585_4591dup (p.Val1531fs)
|
|
|
NM_001042492.3(NF1):c.4586A>G (p.Lys1529Arg)
|
rs1555619001
|
|
NM_001042492.3(NF1):c.4588G>A (p.Ala1530Thr)
|
rs2151466206
|
|
NM_001042492.3(NF1):c.4588G>C (p.Ala1530Pro)
|
|
|
NM_001042492.3(NF1):c.4589C>T (p.Ala1530Val)
|
|
|
NM_001042492.3(NF1):c.458T>A (p.Val153Asp)
|
rs2143673698
|
|
NM_001042492.3(NF1):c.458T>C (p.Val153Ala)
|
rs2143673698
|
|
NM_001042492.3(NF1):c.4590_4664del (p.Val1531_Ala1555del)
|
|
|
NM_001042492.3(NF1):c.4590del (p.Val1531fs)
|
rs2067689582
|
|
NM_001042492.3(NF1):c.4591G>A (p.Val1531Ile)
|
|
|
NM_001042492.3(NF1):c.4593del (p.Gly1532fs)
|
rs2151466223
|
|
NM_001042492.3(NF1):c.4595G>A (p.Gly1532Glu)
|
|
|
NM_001042492.3(NF1):c.4595G>C (p.Gly1532Ala)
|
|
|
NM_001042492.3(NF1):c.4595G>T (p.Gly1532Val)
|
|
|
NM_001042492.3(NF1):c.4598G>A (p.Arg1533Lys)
|
|
|
NM_001042492.3(NF1):c.4598del (p.Arg1533fs)
|
rs1060500292
|
|
NM_001042492.3(NF1):c.4599A>T (p.Arg1533Ser)
|
rs1597748710
|
|
NM_001042492.3(NF1):c.4604del (p.Pro1535fs)
|
|
|
NM_001042492.3(NF1):c.4606T>G (p.Phe1536Val)
|
|
|
NM_001042492.3(NF1):c.4607T>C (p.Phe1536Ser)
|
|
|
NM_001042492.3(NF1):c.4608T>C (p.Phe1536=)
|
|
|
NM_001042492.3(NF1):c.4608_4611delinsC (p.Asp1537del)
|
rs2151466254
|
|
NM_001042492.3(NF1):c.4608del (p.Phe1536fs)
|
rs2151466252
|
|
NM_001042492.3(NF1):c.4611_4612del (p.Asp1537fs)
|
|
|
NM_001042492.3(NF1):c.4612A>T (p.Lys1538Ter)
|
|
|
NM_001042492.3(NF1):c.4616T>C (p.Met1539Thr)
|
rs1567863578
|
|
NM_001042492.3(NF1):c.4617_4630dup (p.Ala1544fs)
|
rs1567863580
|
|
NM_001042492.3(NF1):c.4618G>A (p.Ala1540Thr)
|
rs2151466274
|
|
NM_001042492.3(NF1):c.4618G>C (p.Ala1540Pro)
|
rs2151466274
|
|
NM_001042492.3(NF1):c.4618del (p.Ala1540fs)
|
rs1597748742
|
|
NM_001042492.3(NF1):c.4619C>A (p.Ala1540Glu)
|
rs2151466279
|
|
NM_001042492.3(NF1):c.4619_4622delinsAA (p.Ala1540fs)
|
rs2067690116
|
|
NM_001042492.3(NF1):c.4619del (p.Ala1540fs)
|
|
|
NM_001042492.3(NF1):c.461_462del (p.Val153_Phe154insTer)
|
rs2065795756
|
|
NM_001042492.3(NF1):c.461_462insA (p.Phe154fs)
|
rs2143673772
|
|
NM_001042492.3(NF1):c.4620A>G (p.Ala1540=)
|
rs2151466284
|
|
NM_001042492.3(NF1):c.4620_4621insC (p.Thr1541fs)
|
|
|
NM_001042492.3(NF1):c.4621A>G (p.Thr1541Ala)
|
rs2067690191
|
|
NM_001042492.3(NF1):c.4621_4622insG (p.Thr1541fs)
|
rs2067690233
|
|
NM_001042492.3(NF1):c.4622_4636del (p.Thr1541_Leu1546delinsMet)
|
rs1064792912
|
|
NM_001042492.3(NF1):c.4623A>C (p.Thr1541=)
|
rs2151466293
|
|
NM_001042492.3(NF1):c.4624C>T (p.Leu1542Phe)
|
rs1555619011
|
|
NM_001042492.3(NF1):c.4624CTT[1] (p.Leu1543del)
|
|
|
NM_001042492.3(NF1):c.4625T>A (p.Leu1542His)
|
|
|
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.4628T>C (p.Leu1543Pro)
|
|
|
NM_001042492.3(NF1):c.4631C>A (p.Ala1544Glu)
|
rs1555619015
|
|
NM_001042492.3(NF1):c.4631del (p.Ala1544fs)
|
rs1597748782
|
|
NM_001042492.3(NF1):c.4633T>C (p.Tyr1545His)
|
rs1555619019
|
|
NM_001042492.3(NF1):c.4633dup (p.Tyr1545fs)
|
|
|
NM_001042492.3(NF1):c.4634A>G (p.Tyr1545Cys)
|
rs1597748795
|
|
NM_001042492.3(NF1):c.4634_4636del (p.Tyr1545del)
|
|
|
NM_001042492.3(NF1):c.4635C>A (p.Tyr1545Ter)
|
rs754023358
|
|
NM_001042492.3(NF1):c.4635C>G (p.Tyr1545Ter)
|
rs754023358
|
|
NM_001042492.3(NF1):c.4636C>T (p.Leu1546=)
|
rs2151466329
|
|
NM_001042492.3(NF1):c.4637T>C (p.Leu1546Pro)
|
rs876660760
|
|
NM_001042492.3(NF1):c.4637T>G (p.Leu1546Arg)
|
|
|
NM_001042492.3(NF1):c.4638G>T (p.Leu1546=)
|
|
|
NM_001042492.3(NF1):c.4638_4641del (p.Gly1547fs)
|
|
|
NM_001042492.3(NF1):c.4639G>A (p.Gly1547Ser)
|
|
|
NM_001042492.3(NF1):c.4639_4640del (p.Gly1547fs)
|
rs2067690686
|
|
NM_001042492.3(NF1):c.4639_4640dup (p.Pro1548fs)
|
|
|
NM_001042492.3(NF1):c.463A>T (p.Ser155Cys)
|
rs1272106481
|
|
NM_001042492.3(NF1):c.4640G>A (p.Gly1547Asp)
|
rs2151466343
|
|
NM_001042492.3(NF1):c.4640del (p.Gly1547fs)
|
rs2067690686
|
|
NM_001042492.3(NF1):c.4641T>G (p.Gly1547=)
|
rs2151466345
|
|
NM_001042492.3(NF1):c.4642C>T (p.Pro1548Ser)
|
rs876658396
|
|
NM_001042492.3(NF1):c.4643del (p.Pro1548fs)
|
|
|
NM_001042492.3(NF1):c.4645C>G (p.Pro1549Ala)
|
rs1555619025
|
|
NM_001042492.3(NF1):c.4646C>G (p.Pro1549Arg)
|
rs2151466351
|
|
NM_001042492.3(NF1):c.4647A>G (p.Pro1549=)
|
rs1305841472
|
|
NM_001042492.3(NF1):c.4648G>T (p.Glu1550Ter)
|
|
|
NM_001042492.3(NF1):c.4649A>G (p.Glu1550Gly)
|
rs2067690886
|
|
NM_001042492.3(NF1):c.464G>A (p.Ser155Asn)
|
rs1555606113
|
|
NM_001042492.3(NF1):c.4650del (p.Glu1550fs)
|
|
|
NM_001042492.3(NF1):c.4652A>G (p.His1551Arg)
|
|
|
NM_001042492.3(NF1):c.4653C>T (p.His1551=)
|
rs2151466362
|
|
NM_001042492.3(NF1):c.4654A>T (p.Lys1552Ter)
|
|
|
NM_001042492.3(NF1):c.4655_4656del (p.Lys1552fs)
|
|
|
NM_001042492.3(NF1):c.4656_4657inv (p.Pro1553Ser)
|
|
|
NM_001042492.3(NF1):c.4657C>T (p.Pro1553Ser)
|
rs1033427343
|
|
NM_001042492.3(NF1):c.4658C>T (p.Pro1553Leu)
|
|
|
NM_001042492.3(NF1):c.4658del (p.Pro1553fs)
|
rs1555619029
|
|
NM_001042492.3(NF1):c.4659T>C (p.Pro1553=)
|
|
|
NM_001042492.3(NF1):c.4660G>A (p.Val1554Met)
|
rs1319687326
|
|
NM_001042492.3(NF1):c.4660G>C (p.Val1554Leu)
|
|
|
NM_001042492.3(NF1):c.4663G>A (p.Ala1555Thr)
|
rs1597748868
|
|
NM_001042492.3(NF1):c.4663del (p.Ala1555fs)
|
rs1567863614
|
|
NM_001042492.3(NF1):c.4665A>G (p.Ala1555=)
|
|
|
NM_001042492.3(NF1):c.4666G>C (p.Asp1556His)
|
|
|
NM_001042492.3(NF1):c.4667A>T (p.Asp1556Val)
|
|
|
NM_001042492.3(NF1):c.4669dup (p.Thr1557fs)
|
rs1555619033
|
|
NM_001042492.3(NF1):c.466C>T (p.Arg156Cys)
|
rs755890242
|
|
NM_001042492.3(NF1):c.4670C>A (p.Thr1557Lys)
|
rs876660065
|
|
NM_001042492.3(NF1):c.4670C>G (p.Thr1557Arg)
|
rs876660065
|
|
NM_001042492.3(NF1):c.4671A>T (p.Thr1557=)
|
rs876658990
|
|
NM_001042492.3(NF1):c.4672C>T (p.His1558Tyr)
|
rs1468638747
|
|
NM_001042492.3(NF1):c.4673A>G (p.His1558Arg)
|
rs1597748910
|
|
NM_001042492.3(NF1):c.4673_4674dup (p.Trp1559fs)
|
rs2067691394
|
|
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>C (p.Arg156Pro)
|
rs754096545
|
|
NM_001042492.3(NF1):c.467G>T (p.Arg156Leu)
|
rs754096545
|
|
NM_001042492.3(NF1):c.4680C>G (p.Ser1560=)
|
|
|
NM_001042492.3(NF1):c.4680C>T (p.Ser1560=)
|
rs2067691696
|
|
NM_001042492.3(NF1):c.4681A>T (p.Ser1561Cys)
|
rs2151466435
|
|
NM_001042492.3(NF1):c.4682G>C (p.Ser1561Thr)
|
rs751414513
|
|
NM_001042492.3(NF1):c.4682G>T (p.Ser1561Ile)
|
|
|
NM_001042492.3(NF1):c.4683C>A (p.Ser1561Arg)
|
|
|
NM_001042492.3(NF1):c.4683C>G (p.Ser1561Arg)
|
rs2067691723
|
|
NM_001042492.3(NF1):c.4684C>T (p.Leu1562Phe)
|
|
|
NM_001042492.3(NF1):c.4684_4685insGTTA (p.Leu1562fs)
|
|
|
NM_001042492.3(NF1):c.4684_4687dup (p.Asn1563delinsThrTer)
|
|
|
NM_001042492.3(NF1):c.4684_4703del (p.Leu1562fs)
|
|
|
NM_001042492.3(NF1):c.4684del (p.Asn1563fs)
|
rs1555619041
|
|
NM_001042492.3(NF1):c.4685T>A (p.Leu1562His)
|
|
|
NM_001042492.3(NF1):c.4688A>T (p.Asn1563Ile)
|
|
|
NM_001042492.3(NF1):c.4689_4695del (p.Asn1563fs)
|
|
|
NM_001042492.3(NF1):c.4693del (p.Thr1565fs)
|
|
|
NM_001042492.3(NF1):c.4693dup (p.Thr1565fs)
|
|
|
NM_001042492.3(NF1):c.4694C>G (p.Thr1565Ser)
|
rs2067691859
|
|
NM_001042492.3(NF1):c.4695C>T (p.Thr1565=)
|
rs1555619045
|
|
NM_001042492.3(NF1):c.4695del (p.Ser1566fs)
|
rs2151466475
|
|
NM_001042492.3(NF1):c.4696A>G (p.Ser1566Gly)
|
|
|
NM_001042492.3(NF1):c.4696del (p.Ser1566fs)
|
rs2151466481
|
|
NM_001042492.3(NF1):c.4696dup (p.Ser1566fs)
|
|
|
NM_001042492.3(NF1):c.4697_4701del (p.Ser1566fs)
|
|
|
NM_001042492.3(NF1):c.4698T>C (p.Ser1566=)
|
|
|
NM_001042492.3(NF1):c.469A>G (p.Ile157Val)
|
rs1555606118
|
|
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.4700C>T (p.Ser1567Leu)
|
rs1555619051
|
|
NM_001042492.3(NF1):c.4700del (p.Ser1566_Ser1567insTer)
|
|
|
NM_001042492.3(NF1):c.4701A>G (p.Ser1567=)
|
rs1597748963
|
|
NM_001042492.3(NF1):c.4702A>T (p.Lys1568Ter)
|
rs2151466498
|
|
NM_001042492.3(NF1):c.4702_4703del (p.Lys1568fs)
|
|
|
NM_001042492.3(NF1):c.4703del (p.Lys1568fs)
|
rs1555619052
|
|
NM_001042492.3(NF1):c.4703dup (p.Phe1569fs)
|
rs1555619052
|
|
NM_001042492.3(NF1):c.4704G>A (p.Lys1568=)
|
rs1424931932
|
|
NM_001042492.3(NF1):c.4706T>C (p.Phe1569Ser)
|
|
|
NM_001042492.3(NF1):c.4707del (p.Phe1569fs)
|
|
|
NM_001042492.3(NF1):c.4708G>A (p.Glu1570Lys)
|
|
|
NM_001042492.3(NF1):c.4708G>T (p.Glu1570Ter)
|
|
|
NM_001042492.3(NF1):c.470T>A (p.Ile157Asn)
|
rs199474744
|
|
NM_001042492.3(NF1):c.4710G>A (p.Glu1570=)
|
rs1597748978
|
|
NM_001042492.3(NF1):c.4711G>T (p.Glu1571Ter)
|
rs1567863648
|
|
NM_001042492.3(NF1):c.4716dup (p.Met1573fs)
|
|
|
NM_001042492.3(NF1):c.4717A>G (p.Met1573Val)
|
|
|
NM_001042492.3(NF1):c.4720_4724del (p.Thr1574fs)
|
rs2067692232
|
|
NM_001042492.3(NF1):c.4720del (p.Thr1574fs)
|
rs2151466537
|
|
NM_001042492.3(NF1):c.4721C>T (p.Thr1574Ile)
|
rs1567863650
|
|
NM_001042492.3(NF1):c.4722T>G (p.Thr1574=)
|
rs1555619054
|
|
NM_001042492.3(NF1):c.4724+10A>G
|
rs2151466580
|
|
NM_001042492.3(NF1):c.4724+10A>T
|
rs2151466580
|
|
NM_001042492.3(NF1):c.4724+11A>C
|
rs368649260
|
|
NM_001042492.3(NF1):c.4724+13C>T
|
|
|
NM_001042492.3(NF1):c.4724+14T>C
|
rs779698484
|
|
NM_001042492.3(NF1):c.4724+17A>C
|
|
|
NM_001042492.3(NF1):c.4724+18A>G
|
|
|
NM_001042492.3(NF1):c.4724+19A>G
|
rs2151466608
|
|
NM_001042492.3(NF1):c.4724+1G>A
|
rs1555619056
|
|
NM_001042492.3(NF1):c.4724+1G>C
|
rs1555619056
|
|
NM_001042492.3(NF1):c.4724+1G>T
|
rs1555619056
|
|
NM_001042492.3(NF1):c.4724+20T>C
|
|
|
NM_001042492.3(NF1):c.4724+20T>G
|
|
|
NM_001042492.3(NF1):c.4724+2T>C
|
|
|
NM_001042492.3(NF1):c.4724+2T>G
|
rs1597748995
|
|
NM_001042492.3(NF1):c.4724+2_4724+3insTTT
|
rs2151466559
|
|
NM_001042492.3(NF1):c.4724+3A>C
|
|
|
NM_001042492.3(NF1):c.4724+5A>G
|
rs2151466564
|
|
NM_001042492.3(NF1):c.4724+6G>A
|
rs2067692408
|
|
NM_001042492.3(NF1):c.4724+7T>C
|
rs864622178
|
|
NM_001042492.3(NF1):c.4724+7T>G
|
|
|
NM_001042492.3(NF1):c.4724G>A (p.Arg1575Lys)
|
|
|
NM_001042492.3(NF1):c.4725-11T>C
|
|
|
NM_001042492.3(NF1):c.4725-13_4725-11dup
|
rs1212495849
|
|
NM_001042492.3(NF1):c.4725-14del
|
rs2151469954
|
|
NM_001042492.3(NF1):c.4725-15_4725-3del
|
rs2151469964
|
|
NM_001042492.3(NF1):c.4725-16G>A
|
rs2151469950
|
|
NM_001042492.3(NF1):c.4725-17T>C
|
|
|
NM_001042492.3(NF1):c.4725-17dup
|
rs2151469940
|
|
NM_001042492.3(NF1):c.4725-18_4725-12del
|
|
|
NM_001042492.3(NF1):c.4725-19T>C
|
|
|
NM_001042492.3(NF1):c.4725-19T>G
|
|
|
NM_001042492.3(NF1):c.4725-1G>A
|
rs1555619391
|
|
NM_001042492.3(NF1):c.4725-1G>C
|
rs1555619391
|
|
NM_001042492.3(NF1):c.4725-20C>A
|
|
|
NM_001042492.3(NF1):c.4725-2A>C
|
rs1295045178
|
|
NM_001042492.3(NF1):c.4725-2A>G
|
rs1295045178
|
|
NM_001042492.3(NF1):c.4725-2A>T
|
rs1295045178
|
|
NM_001042492.3(NF1):c.4725-3T>C
|
rs892441625
|
|
NM_001042492.3(NF1):c.4725-3dup
|
rs2151469976
|
|
NM_001042492.3(NF1):c.4725-5T>C
|
rs1060503903
|
|
NM_001042492.3(NF1):c.4725-7C>A
|
rs765493750
|
|
NM_001042492.3(NF1):c.4725-7C>T
|
|
|
NM_001042492.3(NF1):c.4725-7del
|
rs2151469975
|
|
NM_001042492.3(NF1):c.4725-8T>A
|
|
|
NM_001042492.3(NF1):c.4725G>A (p.Arg1575=)
|
rs147755637
|
|
NM_001042492.3(NF1):c.4725G>T (p.Arg1575Ser)
|
|
|
NM_001042492.3(NF1):c.4726del (p.His1576fs)
|
|
|
NM_001042492.3(NF1):c.4729C>T (p.Gln1577Ter)
|
rs797044942
|
|
NM_001042492.3(NF1):c.4731G>A (p.Gln1577=)
|
rs2067764593
|
|
NM_001042492.3(NF1):c.4732G>A (p.Val1578Ile)
|
rs1597753156
|
|
NM_001042492.3(NF1):c.4736A>C (p.His1579Pro)
|
rs1275751975
|
|
NM_001042492.3(NF1):c.4738G>T (p.Glu1580Ter)
|
rs2067764827
|
|
NM_001042492.3(NF1):c.4738_4745delinsAAAAAGG (p.Glu1580fs)
|
rs1597753176
|
|
NM_001042492.3(NF1):c.4740A>T (p.Glu1580Asp)
|
|
|
NM_001042492.3(NF1):c.4743del (p.Glu1582fs)
|
|
|
NM_001042492.3(NF1):c.4743dup (p.Glu1582fs)
|
rs1567864972
|
|
NM_001042492.3(NF1):c.4744G>T (p.Glu1582Ter)
|
rs1167129178
|
|
NM_001042492.3(NF1):c.4744_4745del (p.Glu1582fs)
|
rs1555619395
|
|
NM_001042492.3(NF1):c.4747G>T (p.Glu1583Ter)
|
rs2067765099
|
|
NM_001042492.3(NF1):c.4747_4748dup (p.Phe1584fs)
|
rs1555619397
|
|
NM_001042492.3(NF1):c.4749A>T (p.Glu1583Asp)
|
rs144091165
|
|
NM_001042492.3(NF1):c.4749del (p.Glu1583fs)
|
rs1567864983
|
|
NM_001042492.3(NF1):c.4750_4751del (p.Phe1584fs)
|
|
|
NM_001042492.3(NF1):c.4751_4753del (p.Phe1584_Lys1585delinsTer)
|
rs2151470076
|
|
NM_001042492.3(NF1):c.4751del (p.Phe1584fs)
|
rs2151470069
|
|
NM_001042492.3(NF1):c.4752C>T (p.Phe1584=)
|
rs876657545
|
|
NM_001042492.3(NF1):c.4753A>T (p.Lys1585Ter)
|
rs2067765257
|
|
NM_001042492.3(NF1):c.4754A>G (p.Lys1585Arg)
|
|
|
NM_001042492.3(NF1):c.4755G>A (p.Lys1585=)
|
|
|
NM_001042492.3(NF1):c.4756G>A (p.Ala1586Thr)
|
rs767438491
|
|
NM_001042492.3(NF1):c.4756G>T (p.Ala1586Ser)
|
rs767438491
|
|
NM_001042492.3(NF1):c.475A>C (p.Thr159Pro)
|
rs371192107
|
|
NM_001042492.3(NF1):c.4760del (p.Ala1586_Leu1587insTer)
|
rs2151470108
|
|
NM_001042492.3(NF1):c.4762A>G (p.Lys1588Glu)
|
rs2067765422
|
|
NM_001042492.3(NF1):c.4765A>C (p.Thr1589Pro)
|
|
|
NM_001042492.3(NF1):c.4765A>G (p.Thr1589Ala)
|
rs2067765502
|
|
NM_001042492.3(NF1):c.4765del (p.Thr1589fs)
|
rs1131691098
|
|
NM_001042492.3(NF1):c.4765dup (p.Thr1589fs)
|
|
|
NM_001042492.3(NF1):c.4767G>C (p.Thr1589=)
|
|
|
NM_001042492.3(NF1):c.4768T>G (p.Leu1590Val)
|
rs1567865010
|
|
NM_001042492.3(NF1):c.4769T>A (p.Leu1590Ter)
|
rs2067765689
|
|
NM_001042492.3(NF1):c.4769T>G (p.Leu1590Ter)
|
rs2067765689
|
|
NM_001042492.3(NF1):c.4770A>C (p.Leu1590Phe)
|
rs1567865021
|
|
NM_001042492.3(NF1):c.4770A>G (p.Leu1590=)
|
rs1567865021
|
|
NM_001042492.3(NF1):c.4770_4771del (p.Ser1591fs)
|
rs2151470150
|
|
NM_001042492.3(NF1):c.4770_4771delinsT (p.Leu1590fs)
|
rs2067765761
|
|
NM_001042492.3(NF1):c.4770_4777del (p.Leu1590fs)
|
rs1555619402
|
|
NM_001042492.3(NF1):c.4771dup (p.Ser1591fs)
|
|
|
NM_001042492.3(NF1):c.4772G>A (p.Ser1591Asn)
|
rs1597753246
|
|
NM_001042492.3(NF1):c.4772G>C (p.Ser1591Thr)
|
rs1597753246
|
|
NM_001042492.3(NF1):c.4772del (p.Ser1591fs)
|
|
|
NM_001042492.3(NF1):c.4773T>C (p.Ser1591=)
|
rs2151470160
|
|
NM_001042492.3(NF1):c.4774A>G (p.Ile1592Val)
|
|
|
NM_001042492.3(NF1):c.4774_4777dup (p.Phe1593fs)
|
|
|
NM_001042492.3(NF1):c.4775T>C (p.Ile1592Thr)
|
rs765799937
|
|
NM_001042492.3(NF1):c.4776T>A (p.Ile1592=)
|
rs1346039502
|
|
NM_001042492.3(NF1):c.4778del (p.Phe1593fs)
|
rs2067765927
|
|
NM_001042492.3(NF1):c.4779C>A (p.Phe1593Leu)
|
rs2151470179
|
|
NM_001042492.3(NF1):c.477C>G (p.Thr159=)
|
|
|
NM_001042492.3(NF1):c.477del (p.Arg160fs)
|
|
|
NM_001042492.3(NF1):c.4781A>G (p.Tyr1594Cys)
|
rs1060500303
|
|
NM_001042492.3(NF1):c.4782C>A (p.Tyr1594Ter)
|
rs2151470201
|
|
NM_001042492.3(NF1):c.4782C>G (p.Tyr1594Ter)
|
rs2151470201
|
|
NM_001042492.3(NF1):c.4783C>T (p.Gln1595Ter)
|
rs1597753263
|
|
NM_001042492.3(NF1):c.4783del (p.Gln1595fs)
|
rs1555619404
|
|
NM_001042492.3(NF1):c.4784A>G (p.Gln1595Arg)
|
rs2151470206
|
|
NM_001042492.3(NF1):c.4786G>C (p.Ala1596Pro)
|
rs2151470213
|
|
NM_001042492.3(NF1):c.4787C>A (p.Ala1596Asp)
|
|
|
NM_001042492.3(NF1):c.4787C>G (p.Ala1596Gly)
|
rs1567865042
|
|
NM_001042492.3(NF1):c.4787_4790dup (p.Thr1598fs)
|
|
|
NM_001042492.3(NF1):c.478A>T (p.Arg160Trp)
|
|
|
NM_001042492.3(NF1):c.478del (p.Arg160fs)
|
rs2143674103
|
|
NM_001042492.3(NF1):c.479+10T>A
|
rs2143674378
|
|
NM_001042492.3(NF1):c.479+11A>G
|
rs2143674392
|
|
NM_001042492.3(NF1):c.479+11A>T
|
rs2143674392
|
|
NM_001042492.3(NF1):c.479+16C>T
|
rs1295344295
|
|
NM_001042492.3(NF1):c.479+19A>C
|
rs1315418344
|
|
NM_001042492.3(NF1):c.479+19A>G
|
rs1315418344
|
|
NM_001042492.3(NF1):c.479+19A>T
|
|
|
NM_001042492.3(NF1):c.479+1G>A
|
rs1555606137
|
|
NM_001042492.3(NF1):c.479+1G>C
|
rs1555606137
|
|
NM_001042492.3(NF1):c.479+1G>T
|
rs1555606137
|
|
NM_001042492.3(NF1):c.479+1_479+1356del
|
|
|
NM_001042492.3(NF1):c.479+2T>A
|
|
|
NM_001042492.3(NF1):c.479+2T>C
|
|
|
NM_001042492.3(NF1):c.479+2T>G
|
|
|
NM_001042492.3(NF1):c.479+3T>G
|
rs876658752
|
|
NM_001042492.3(NF1):c.479+5G>A
|
rs1567818033
|
|
NM_001042492.3(NF1):c.479+5G>C
|
rs1567818033
|
|
NM_001042492.3(NF1):c.479+5G>T
|
rs1567818033
|
|
NM_001042492.3(NF1):c.479+5GT[2]
|
rs2143674247
|
|
NM_001042492.3(NF1):c.479+7del
|
|
|
NM_001042492.3(NF1):c.4790G>C (p.Gly1597Ala)
|
|
|
NM_001042492.3(NF1):c.4791G>A (p.Gly1597=)
|
rs1412795566
|
|
NM_001042492.3(NF1):c.4791G>T (p.Gly1597=)
|
rs1412795566
|
|
NM_001042492.3(NF1):c.4793_4802del (p.Thr1598fs)
|
|
|
NM_001042492.3(NF1):c.4793_4807del (p.Thr1598_Gly1602del)
|
|
|
NM_001042492.3(NF1):c.4796C>A (p.Ser1599Tyr)
|
rs1555619407
|
|
NM_001042492.3(NF1):c.4796C>T (p.Ser1599Phe)
|
rs1555619407
|
|
NM_001042492.3(NF1):c.4796_4797insG (p.Lys1600fs)
|
rs2067766404
|
|
NM_001042492.3(NF1):c.4797del (p.Ala1601fs)
|
|
|
NM_001042492.3(NF1):c.479G>A (p.Arg160Lys)
|
rs199474752
|
|
NM_001042492.3(NF1):c.479G>C (p.Arg160Thr)
|
rs199474752
|
|
NM_001042492.3(NF1):c.480-10T>C
|
rs2143706711
|
|
NM_001042492.3(NF1):c.480-14T>C
|
|
|
NM_001042492.3(NF1):c.480-15G>A
|
|
|
NM_001042492.3(NF1):c.480-15G>T
|
|
|
NM_001042492.3(NF1):c.480-1G>A
|
rs2065902916
|
|
NM_001042492.3(NF1):c.480-1G>C
|
|
|
NM_001042492.3(NF1):c.480-2989_586+3445del
|
|
|
NM_001042492.3(NF1):c.480-29A>G
|
|
|
NM_001042492.3(NF1):c.480-2A>C
|
|
|
NM_001042492.3(NF1):c.480-2A>G
|
rs1567820688
|
|
NM_001042492.3(NF1):c.480-3del
|
|
|
NM_001042492.3(NF1):c.480-3dup
|
rs2143706767
|
|
NM_001042492.3(NF1):c.480-4T>C
|
rs1597643710
|
|
NM_001042492.3(NF1):c.480-5T>C
|
rs1555607069
|
|
NM_001042492.3(NF1):c.480-5T>G
|
|
|
NM_001042492.3(NF1):c.480-5_482del
|
|
|
NM_001042492.3(NF1):c.480-6T>C
|
rs1597643699
|
|
NM_001042492.3(NF1):c.480-6T>G
|
|
|
NM_001042492.3(NF1):c.480-7T>C
|
rs2143706752
|
|
NM_001042492.3(NF1):c.480-8C>A
|
rs1597643692
|
|
NM_001042492.3(NF1):c.480-8C>G
|
rs1597643692
|
|
NM_001042492.3(NF1):c.480-8C>T
|
rs1597643692
|
|
NM_001042492.3(NF1):c.480-8_480-2delinsTTTTAT
|
|
|
NM_001042492.3(NF1):c.480-9A>G
|
|
|
NM_001042492.3(NF1):c.4800A>G (p.Lys1600=)
|
rs1555619409
|
|
NM_001042492.3(NF1):c.4801G>A (p.Ala1601Thr)
|
rs754651519
|
|
NM_001042492.3(NF1):c.4801G>C (p.Ala1601Pro)
|
|
|
NM_001042492.3(NF1):c.4801_4802insA (p.Ala1601fs)
|
|
|
NM_001042492.3(NF1):c.4802C>A (p.Ala1601Asp)
|
rs2151470269
|
|
NM_001042492.3(NF1):c.4803T>G (p.Ala1601=)
|
rs148662566
|
|
NM_001042492.3(NF1):c.4804G>A (p.Gly1602Arg)
|
rs878853898
|
|
NM_001042492.3(NF1):c.4805G>A (p.Gly1602Glu)
|
|
|
NM_001042492.3(NF1):c.4808A>C (p.Asn1603Thr)
|
|
|
NM_001042492.3(NF1):c.4808A>G (p.Asn1603Ser)
|
rs2067766672
|
|
NM_001042492.3(NF1):c.4808A>T (p.Asn1603Ile)
|
|
|
NM_001042492.3(NF1):c.4809T>C (p.Asn1603=)
|
rs2067766712
|
|
NM_001042492.3(NF1):c.480G>A (p.Arg160=)
|
rs1555607071
|
|
NM_001042492.3(NF1):c.480G>T (p.Arg160Ser)
|
rs1555607071
|
|
NM_001042492.3(NF1):c.4811C>G (p.Pro1604Arg)
|
rs2067766742
|
|
NM_001042492.3(NF1):c.4811C>T (p.Pro1604Leu)
|
rs2067766742
|
|
NM_001042492.3(NF1):c.4812T>A (p.Pro1604=)
|
|
|
NM_001042492.3(NF1):c.4817T>C (p.Phe1606Ser)
|
|
|
NM_001042492.3(NF1):c.4818_4822del (p.Phe1606fs)
|
rs1555619413
|
|
NM_001042492.3(NF1):c.4819T>G (p.Tyr1607Asp)
|
|
|
NM_001042492.3(NF1):c.4819TAT[1] (p.Tyr1608del)
|
|
|
NM_001042492.3(NF1):c.4819_4820insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGAGCGAGGTGTCCTTGGTGTTTGAGACAGTGAGGATGGTTTGAGTGGTGGTGCTGGCCCCTCAAGGTACCGCGCCCGGCCCCTATTTTTT (p.Tyr1607delinsPhePhePhePhePhePhePheXaaXaaXaaXaaAlaArgCysProTrpCysLeuArgGlnTer)
|
|
|
NM_001042492.3(NF1):c.4819del (p.Tyr1607fs)
|
rs876658492
|
|
NM_001042492.3(NF1):c.4819dup (p.Tyr1607fs)
|
rs876658492
|
|
NM_001042492.3(NF1):c.4820A>G (p.Tyr1607Cys)
|
|
|
NM_001042492.3(NF1):c.4821T>A (p.Tyr1607Ter)
|
rs1555619416
|
|
NM_001042492.3(NF1):c.4822T>G (p.Tyr1608Asp)
|
rs2067766985
|
|
NM_001042492.3(NF1):c.4823A>C (p.Tyr1608Ser)
|
rs1555619417
|
|
NM_001042492.3(NF1):c.4823A>G (p.Tyr1608Cys)
|
rs1555619417
|
|
NM_001042492.3(NF1):c.4824T>A (p.Tyr1608Ter)
|
rs1567865089
|
|
NM_001042492.3(NF1):c.4824T>C (p.Tyr1608=)
|
rs1567865089
|
|
NM_001042492.3(NF1):c.4824T>G (p.Tyr1608Ter)
|
rs1567865089
|
|
NM_001042492.3(NF1):c.4824del (p.Tyr1607_Tyr1608insTer)
|
rs2151470332
|
|
NM_001042492.3(NF1):c.4825G>A (p.Val1609Ile)
|
rs876658973
|
|
NM_001042492.3(NF1):c.4826T>C (p.Val1609Ala)
|
rs876660303
|
|
NM_001042492.3(NF1):c.4827T>C (p.Val1609=)
|
rs2151470344
|
|
NM_001042492.3(NF1):c.4827del (p.Ala1610fs)
|
|
|
NM_001042492.3(NF1):c.4828G>A (p.Ala1610Thr)
|
rs2067767184
|
|
NM_001042492.3(NF1):c.4828G>T (p.Ala1610Ser)
|
rs2067767184
|
|
NM_001042492.3(NF1):c.4829C>A (p.Ala1610Glu)
|
|
|
NM_001042492.3(NF1):c.4829C>T (p.Ala1610Val)
|
|
|
NM_001042492.3(NF1):c.4831C>A (p.Arg1611=)
|
rs1060500316
|
|
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.4832G>T (p.Arg1611Leu)
|
|
|
NM_001042492.3(NF1):c.4832_4834delinsAC (p.Arg1611fs)
|
rs1597753353
|
|
NM_001042492.3(NF1):c.4833G>A (p.Arg1611=)
|
|
|
NM_001042492.3(NF1):c.4834A>C (p.Arg1612=)
|
rs755137259
|
|
NM_001042492.3(NF1):c.4834A>T (p.Arg1612Trp)
|
|
|
NM_001042492.3(NF1):c.4835+12T>G
|
|
|
NM_001042492.3(NF1):c.4835+12_4835+31del
|
rs764411928
|
|
NM_001042492.3(NF1):c.4835+13_4835+14del
|
rs2151470417
|
|
NM_001042492.3(NF1):c.4835+14del
|
|
|
NM_001042492.3(NF1):c.4835+16T>A
|
rs1274517950
|
|
NM_001042492.3(NF1):c.4835+16T>C
|
|
|
NM_001042492.3(NF1):c.4835+1G>A
|
rs1085307819
|
|
NM_001042492.3(NF1):c.4835+1G>C
|
|
|
NM_001042492.3(NF1):c.4835+1G>T
|
rs1085307819
|
|
NM_001042492.3(NF1):c.4835+2T>A
|
rs2067767535
|
|
NM_001042492.3(NF1):c.4835+2T>C
|
rs2067767535
|
|
NM_001042492.3(NF1):c.4835+2T>G
|
rs2067767535
|
|
NM_001042492.3(NF1):c.4835+3_4835+10delinsT
|
rs2067767641
|
|
NM_001042492.3(NF1):c.4835+4A>C
|
|
|
NM_001042492.3(NF1):c.4835+4A>G
|
|
|
NM_001042492.3(NF1):c.4835G>C (p.Arg1612Thr)
|
rs1555619423
|
|
NM_001042492.3(NF1):c.4836-10T>A
|
rs878853899
|
|
NM_001042492.3(NF1):c.4836-10T>G
|
rs878853899
|
|
NM_001042492.3(NF1):c.4836-12C>T
|
|
|
NM_001042492.3(NF1):c.4836-14_4836-6del
|
rs2151537415
|
|
NM_001042492.3(NF1):c.4836-14del
|
|
|
NM_001042492.3(NF1):c.4836-15T>A
|
rs2151537408
|
|
NM_001042492.3(NF1):c.4836-16_4836-15del
|
|
|
NM_001042492.3(NF1):c.4836-18T>C
|
|
|
NM_001042492.3(NF1):c.4836-1G>A
|
rs1057518326
|
|
NM_001042492.3(NF1):c.4836-1G>C
|
rs1057518326
|
|
NM_001042492.3(NF1):c.4836-1G>T
|
rs1057518326
|
|
NM_001042492.3(NF1):c.4836-2A>G
|
|
|
NM_001042492.3(NF1):c.4836-2A>T
|
rs1555533265
|
|
NM_001042492.3(NF1):c.4836-2_4836del
|
rs2151537459
|
|
NM_001042492.3(NF1):c.4836-3T>A
|
|
|
NM_001042492.3(NF1):c.4836-5dup
|
|
|
NM_001042492.3(NF1):c.4836-6C>A
|
|
|
NM_001042492.3(NF1):c.4836-7T>C
|
rs1597829481
|
|
NM_001042492.3(NF1):c.4836-8T>G
|
|
|
NM_001042492.3(NF1):c.4836-9T>C
|
rs2151537438
|
|
NM_001042492.3(NF1):c.4836G>C (p.Arg1612Ser)
|
rs1555533268
|
|
NM_001042492.3(NF1):c.4836G>T (p.Arg1612Ser)
|
rs1555533268
|
|
NM_001042492.3(NF1):c.4837_4840del (p.Phe1613fs)
|
rs2151537475
|
|
NM_001042492.3(NF1):c.4838T>G (p.Phe1613Cys)
|
rs2151537477
|
|
NM_001042492.3(NF1):c.4840A>G (p.Lys1614Glu)
|
|
|
NM_001042492.3(NF1):c.4843del (p.Thr1615fs)
|
|
|
NM_001042492.3(NF1):c.4845T>C (p.Thr1615=)
|
rs753606794
|
|
NM_001042492.3(NF1):c.4846G>A (p.Gly1616Ser)
|
rs1555533271
|
|
NM_001042492.3(NF1):c.4847G>A (p.Gly1616Asp)
|
rs1597829516
|
|
NM_001042492.3(NF1):c.4849C>G (p.Gln1617Glu)
|
|
|
NM_001042492.3(NF1):c.4849_4853delinsATATCAG (p.Gln1617fs)
|
rs1597829519
|
|
NM_001042492.3(NF1):c.484C>A (p.Gln162Lys)
|
rs1555607073
|
|
NM_001042492.3(NF1):c.484C>G (p.Gln162Glu)
|
rs1555607073
|
|
NM_001042492.3(NF1):c.484C>T (p.Gln162Ter)
|
rs1555607073
|
|
NM_001042492.3(NF1):c.4852A>T (p.Ile1618Phe)
|
rs1208118952
|
|
NM_001042492.3(NF1):c.4854C>T (p.Ile1618=)
|
rs1268872486
|
|
NM_001042492.3(NF1):c.4856A>G (p.Asn1619Ser)
|
rs1466167635
|
|
NM_001042492.3(NF1):c.4856del (p.Asn1619fs)
|
rs2151537536
|
|
NM_001042492.3(NF1):c.4857del (p.Asn1619fs)
|
rs2151537542
|
|
NM_001042492.3(NF1):c.4860dup (p.Asp1621Ter)
|
rs2069325872
|
|
NM_001042492.3(NF1):c.4862A>C (p.Asp1621Ala)
|
rs2151537564
|
|
NM_001042492.3(NF1):c.4865T>A (p.Leu1622Ter)
|
|
|
NM_001042492.3(NF1):c.4865T>G (p.Leu1622Trp)
|
|
|
NM_001042492.3(NF1):c.4865del (p.Leu1622fs)
|
rs2069325928
|
|
NM_001042492.3(NF1):c.4866G>T (p.Leu1622Phe)
|
|
|
NM_001042492.3(NF1):c.4867C>T (p.Leu1623=)
|
rs1555533277
|
|
NM_001042492.3(NF1):c.4868T>C (p.Leu1623Pro)
|
rs2151537585
|
|
NM_001042492.3(NF1):c.4868T>G (p.Leu1623Arg)
|
|
|
NM_001042492.3(NF1):c.4868dup (p.Ile1624fs)
|
|
|
NM_001042492.3(NF1):c.4869G>A (p.Leu1623=)
|
rs1555533279
|
|
NM_001042492.3(NF1):c.486G>A (p.Gln162=)
|
rs1555607076
|
|
NM_001042492.3(NF1):c.4870A>C (p.Ile1624Leu)
|
|
|
NM_001042492.3(NF1):c.4871T>C (p.Ile1624Thr)
|
|
|
NM_001042492.3(NF1):c.4871_4872insC (p.Tyr1625fs)
|
|
|
NM_001042492.3(NF1):c.4871del (p.Ile1624fs)
|
|
|
NM_001042492.3(NF1):c.4872A>G (p.Ile1624Met)
|
|
|
NM_001042492.3(NF1):c.4872A>T (p.Ile1624=)
|
rs2151537601
|
|
NM_001042492.3(NF1):c.4872_4874dup (p.Tyr1625Ter)
|
|
|
NM_001042492.3(NF1):c.4872dup (p.Tyr1625fs)
|
rs1597829557
|
|
NM_001042492.3(NF1):c.4873_4874dup (p.His1626fs)
|
rs1555533284
|
|
NM_001042492.3(NF1):c.4875C>A (p.Tyr1625Ter)
|
rs1555533285
|
|
NM_001042492.3(NF1):c.4875C>T (p.Tyr1625=)
|
|
|
NM_001042492.3(NF1):c.4878del (p.His1626fs)
|
rs2151537626
|
|
NM_001042492.3(NF1):c.4878dup (p.Val1627fs)
|
rs2069326347
|
|
NM_001042492.3(NF1):c.487G>A (p.Glu163Lys)
|
|
|
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.4880T>G (p.Val1627Gly)
|
rs1567611231
|
|
NM_001042492.3(NF1):c.4881_4882dup (p.Leu1628fs)
|
|
|
NM_001042492.3(NF1):c.4881_4883del (p.Leu1629del)
|
|
|
NM_001042492.3(NF1):c.4883T>A (p.Leu1628Ter)
|
rs2069326534
|
|
NM_001042492.3(NF1):c.4883T>G (p.Leu1628Ter)
|
rs2069326534
|
|
NM_001042492.3(NF1):c.4883dup (p.Leu1628fs)
|
rs2151537647
|
|
NM_001042492.3(NF1):c.4884A>C (p.Leu1628Phe)
|
rs2151537649
|
|
NM_001042492.3(NF1):c.4884dup (p.Leu1629fs)
|
|
|
NM_001042492.3(NF1):c.4885C>T (p.Leu1629=)
|
|
|
NM_001042492.3(NF1):c.4885del (p.Leu1628_Leu1629insTer)
|
rs2069326575
|
|
NM_001042492.3(NF1):c.4886T>C (p.Leu1629Pro)
|
rs1555533288
|
|
NM_001042492.3(NF1):c.4886dup (p.Thr1630fs)
|
rs2151537662
|
|
NM_001042492.3(NF1):c.4888del (p.Thr1630fs)
|
rs2069326761
|
|
NM_001042492.3(NF1):c.4889C>T (p.Thr1630Ile)
|
|
|
NM_001042492.3(NF1):c.488A>G (p.Glu163Gly)
|
|
|
NM_001042492.3(NF1):c.4890T>C (p.Thr1630=)
|
rs2151537674
|
|
NM_001042492.3(NF1):c.4892T>A (p.Leu1631Ter)
|
|
|
NM_001042492.3(NF1):c.4892T>G (p.Leu1631Ter)
|
rs1555533292
|
|
NM_001042492.3(NF1):c.4892_4894del (p.Leu1631_Lys1632delinsTer)
|
|
|
NM_001042492.3(NF1):c.4892del (p.Thr1630_Leu1631insTer)
|
rs1555533290
|
|
NM_001042492.3(NF1):c.4894A>T (p.Lys1632Ter)
|
rs1597829604
|
|
NM_001042492.3(NF1):c.4895A>G (p.Lys1632Arg)
|
rs2069327086
|
|
NM_001042492.3(NF1):c.4897C>A (p.Pro1633Thr)
|
rs1567611255
|
|
NM_001042492.3(NF1):c.4898C>T (p.Pro1633Leu)
|
|
|
NM_001042492.3(NF1):c.4899A>C (p.Pro1633=)
|
rs876658422
|
|
NM_001042492.3(NF1):c.4899A>T (p.Pro1633=)
|
rs876658422
|
|
NM_001042492.3(NF1):c.4900T>A (p.Tyr1634Asn)
|
|
|
NM_001042492.3(NF1):c.4903T>C (p.Tyr1635His)
|
|
|
NM_001042492.3(NF1):c.4903_4917del (p.Tyr1635_Tyr1639del)
|
rs2069327013
|
|
NM_001042492.3(NF1):c.4903_4917dup (p.Tyr1635_Tyr1639dup)
|
rs2069327013
|
|
NM_001042492.3(NF1):c.4904A>G (p.Tyr1635Cys)
|
rs786202866
|
|
NM_001042492.3(NF1):c.4904A>T (p.Tyr1635Phe)
|
rs786202866
|
|
NM_001042492.3(NF1):c.4904_4905del (p.Tyr1635fs)
|
|
|
NM_001042492.3(NF1):c.4905T>C (p.Tyr1635=)
|
rs948982039
|
|
NM_001042492.3(NF1):c.4905T>G (p.Tyr1635Ter)
|
rs948982039
|
|
NM_001042492.3(NF1):c.4905del (p.Tyr1634_Tyr1635insTer)
|
|
|
NM_001042492.3(NF1):c.4910del (p.Lys1637fs)
|
|
|
NM_001042492.3(NF1):c.4913dup (p.Tyr1639fs)
|
|
|
NM_001042492.3(NF1):c.4915T>A (p.Tyr1639Asn)
|
rs2151537742
|
|
NM_001042492.3(NF1):c.4915T>G (p.Tyr1639Asp)
|
rs2151537742
|
|
NM_001042492.3(NF1):c.4916A>G (p.Tyr1639Cys)
|
|
|
NM_001042492.3(NF1):c.4917T>A (p.Tyr1639Ter)
|
rs1555533297
|
|
NM_001042492.3(NF1):c.4917T>G (p.Tyr1639Ter)
|
|
|
NM_001042492.3(NF1):c.491T>C (p.Leu164Ser)
|
|
|
NM_001042492.3(NF1):c.491T>G (p.Leu164Ter)
|
|
|
NM_001042492.3(NF1):c.4921A>G (p.Ile1641Val)
|
rs2151537768
|
|
NM_001042492.3(NF1):c.4921del (p.Ile1641fs)
|
|
|
NM_001042492.3(NF1):c.4922T>C (p.Ile1641Thr)
|
rs1567611281
|
|
NM_001042492.3(NF1):c.4922T>G (p.Ile1641Ser)
|
|
|
NM_001042492.3(NF1):c.4923T>C (p.Ile1641=)
|
|
|
NM_001042492.3(NF1):c.4924G>A (p.Val1642Ile)
|
rs2151537778
|
|
NM_001042492.3(NF1):c.4924G>T (p.Val1642Leu)
|
|
|
NM_001042492.3(NF1):c.4924dup (p.Val1642fs)
|
|
|
NM_001042492.3(NF1):c.4926A>G (p.Val1642=)
|
rs2151537784
|
|
NM_001042492.3(NF1):c.4927G>A (p.Val1643Met)
|
rs1060500381
|
|
NM_001042492.3(NF1):c.4927_4929delinsATA (p.Val1643Ile)
|
rs1597829655
|
|
NM_001042492.3(NF1):c.4928T>C (p.Val1643Ala)
|
|
|
NM_001042492.3(NF1):c.4928del (p.Val1643fs)
|
rs2151537791
|
|
NM_001042492.3(NF1):c.4929G>T (p.Val1643=)
|
rs17880521
|
|
NM_001042492.3(NF1):c.4930G>A (p.Asp1644Asn)
|
rs1131691123
|
|
NM_001042492.3(NF1):c.4930G>C (p.Asp1644His)
|
rs1131691123
|
|
NM_001042492.3(NF1):c.4930G>T (p.Asp1644Tyr)
|
rs1131691123
|
|
NM_001042492.3(NF1):c.4931A>C (p.Asp1644Ala)
|
rs2069327949
|
|
NM_001042492.3(NF1):c.4931A>G (p.Asp1644Gly)
|
rs2069327949
|
|
NM_001042492.3(NF1):c.4931A>T (p.Asp1644Val)
|
|
|
NM_001042492.3(NF1):c.4932C>T (p.Asp1644=)
|
rs1555533304
|
|
NM_001042492.3(NF1):c.4933C>T (p.Leu1645Phe)
|
|
|
NM_001042492.3(NF1):c.4933_4934del (p.Leu1645fs)
|
|
|
NM_001042492.3(NF1):c.4933_4934insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATTGTAGTGGACC (p.Leu1645delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer)
|
rs2151537757
|
|
NM_001042492.3(NF1):c.4934T>C (p.Leu1645Pro)
|
rs1555533305
|
|
NM_001042492.3(NF1):c.4934T>G (p.Leu1645Arg)
|
rs1555533305
|
|
NM_001042492.3(NF1):c.4935T>C (p.Leu1645=)
|
rs2151537807
|
|
NM_001042492.3(NF1):c.4936A>C (p.Thr1646Pro)
|
|
|
NM_001042492.3(NF1):c.4936A>T (p.Thr1646Ser)
|
|
|
NM_001042492.3(NF1):c.4936dup (p.Thr1646fs)
|
|
|
NM_001042492.3(NF1):c.4937C>A (p.Thr1646Asn)
|
|
|
NM_001042492.3(NF1):c.4937C>T (p.Thr1646Ile)
|
rs1597829686
|
|
NM_001042492.3(NF1):c.4938C>T (p.Thr1646=)
|
rs1555533306
|
|
NM_001042492.3(NF1):c.493A>G (p.Thr165Ala)
|
rs786203186
|
|
NM_001042492.3(NF1):c.4940A>C (p.His1647Pro)
|
rs1555533307
|
|
NM_001042492.3(NF1):c.4941T>C (p.His1647=)
|
|
|
NM_001042492.3(NF1):c.4942A>C (p.Thr1648Pro)
|
|
|
NM_001042492.3(NF1):c.4942A>T (p.Thr1648Ser)
|
rs770558820
|
|
NM_001042492.3(NF1):c.4944C>A (p.Thr1648=)
|
|
|
NM_001042492.3(NF1):c.4944del (p.Pro1650fs)
|
rs2069328472
|
|
NM_001042492.3(NF1):c.4945G>T (p.Gly1649Trp)
|
|
|
NM_001042492.3(NF1):c.4947G>A (p.Gly1649=)
|
|
|
NM_001042492.3(NF1):c.4947dup (p.Pro1650fs)
|
rs2151537841
|
|
NM_001042492.3(NF1):c.4949C>T (p.Pro1650Leu)
|
rs1597829723
|
|
NM_001042492.3(NF1):c.4949_4954del (p.Pro1650_Asn1652delinsHis)
|
rs1567611339
|
|
NM_001042492.3(NF1):c.494C>G (p.Thr165Ser)
|
rs876660009
|
|
NM_001042492.3(NF1):c.494C>T (p.Thr165Ile)
|
rs876660009
|
|
NM_001042492.3(NF1):c.4950T>C (p.Pro1650=)
|
rs1396903872
|
|
NM_001042492.3(NF1):c.4950T>G (p.Pro1650=)
|
rs1396903872
|
|
NM_001042492.3(NF1):c.4951A>C (p.Ser1651Arg)
|
rs1555533314
|
|
NM_001042492.3(NF1):c.4951A>G (p.Ser1651Gly)
|
rs1555533314
|
|
NM_001042492.3(NF1):c.4951A>T (p.Ser1651Cys)
|
rs1555533314
|
|
NM_001042492.3(NF1):c.4953C>T (p.Ser1651=)
|
rs941643920
|
|
NM_001042492.3(NF1):c.4955A>G (p.Asn1652Ser)
|
rs775874538
|
|
NM_001042492.3(NF1):c.4956T>A (p.Asn1652Lys)
|
rs1597829740
|
|
NM_001042492.3(NF1):c.4956T>C (p.Asn1652=)
|
rs1597829740
|
|
NM_001042492.3(NF1):c.4957_4964del (p.Arg1653fs)
|
rs1597829749
|
|
NM_001042492.3(NF1):c.4958G>T (p.Arg1653Leu)
|
rs763413441
|
|
NM_001042492.3(NF1):c.4963A>T (p.Lys1655Ter)
|
rs2069329312
|
|
NM_001042492.3(NF1):c.4965_4966del (p.Lys1655fs)
|
|
|
NM_001042492.3(NF1):c.4966del (p.Thr1656fs)
|
rs1567611351
|
|
NM_001042492.3(NF1):c.4967_4968del (p.Thr1656fs)
|
rs1555533323
|
|
NM_001042492.3(NF1):c.4968del (p.Asp1657fs)
|
rs2151537927
|
|
NM_001042492.3(NF1):c.496G>A (p.Val166Ile)
|
|
|
NM_001042492.3(NF1):c.496_497del (p.Val166fs)
|
rs1135402788
|
|
NM_001042492.3(NF1):c.4970A>G (p.Asp1657Gly)
|
|
|
NM_001042492.3(NF1):c.4971del (p.Leu1659fs)
|
|
|
NM_001042492.3(NF1):c.4972_4985dup (p.Trp1662fs)
|
|
|
NM_001042492.3(NF1):c.4973_4974del (p.Phe1658fs)
|
rs2069329470
|
|
NM_001042492.3(NF1):c.4974del (p.Leu1659fs)
|
rs2069329470
|
|
NM_001042492.3(NF1):c.4974dup (p.Leu1659fs)
|
|
|
NM_001042492.3(NF1):c.4975C>T (p.Leu1659Phe)
|
|
|
NM_001042492.3(NF1):c.4975del (p.Leu1659fs)
|
rs2151537953
|
|
NM_001042492.3(NF1):c.4976T>C (p.Leu1659Pro)
|
rs2151537955
|
|
NM_001042492.3(NF1):c.4977C>G (p.Leu1659=)
|
rs863224355
|
|
NM_001042492.3(NF1):c.4977C>T (p.Leu1659=)
|
rs863224355
|
|
NM_001042492.3(NF1):c.4977_4980del (p.Lys1661fs)
|
rs1085307459
|
|
NM_001042492.3(NF1):c.4978T>C (p.Ser1660Pro)
|
|
|
NM_001042492.3(NF1):c.4979C>G (p.Ser1660Cys)
|
rs2069329686
|
|
NM_001042492.3(NF1):c.4979C>T (p.Ser1660Phe)
|
rs2069329686
|
|
NM_001042492.3(NF1):c.4980T>G (p.Ser1660=)
|
rs1597829786
|
|
NM_001042492.3(NF1):c.4980_4981insTT (p.Lys1661fs)
|
rs2069329774
|
|
NM_001042492.3(NF1):c.4980dup (p.Lys1661Ter)
|
rs2069329774
|
|
NM_001042492.3(NF1):c.4981A>T (p.Lys1661Ter)
|
rs2151537991
|
|
NM_001042492.3(NF1):c.4981_4984del (p.Lys1661fs)
|
rs2069329829
|
|
NM_001042492.3(NF1):c.4982A>T (p.Lys1661Met)
|
|
|
NM_001042492.3(NF1):c.4982_4983dup (p.Trp1662fs)
|
|
|
NM_001042492.3(NF1):c.4983G>A (p.Lys1661=)
|
|
|
NM_001042492.3(NF1):c.4983_4985delinsCTTA (p.Lys1661fs)
|
rs1555533326
|
|
NM_001042492.3(NF1):c.4984T>A (p.Trp1662Arg)
|
rs1555533328
|
|
NM_001042492.3(NF1):c.4984T>C (p.Trp1662Arg)
|
rs1555533328
|
|
NM_001042492.3(NF1):c.4985G>A (p.Trp1662Ter)
|
rs1567611375
|
|
NM_001042492.3(NF1):c.4985G>C (p.Trp1662Ser)
|
rs1567611375
|
|
NM_001042492.3(NF1):c.4985G>T (p.Trp1662Leu)
|
|
|
NM_001042492.3(NF1):c.4986G>A (p.Trp1662Ter)
|
rs2151538007
|
|
NM_001042492.3(NF1):c.4986del (p.Trp1662fs)
|
|
|
NM_001042492.3(NF1):c.4989_4992del (p.Phe1663fs)
|
|
|
NM_001042492.3(NF1):c.4989del (p.Phe1663fs)
|
rs1567611380
|
|
NM_001042492.3(NF1):c.4990G>T (p.Val1664Phe)
|
|
|
NM_001042492.3(NF1):c.4992T>C (p.Val1664=)
|
|
|
NM_001042492.3(NF1):c.4992del (p.Val1665fs)
|
|
|
NM_001042492.3(NF1):c.4997_4998del (p.Phe1666fs)
|
|
|
NM_001042492.3(NF1):c.4998T>A (p.Phe1666Leu)
|
rs2151538054
|
|
NM_001042492.3(NF1):c.4998del (p.Pro1667fs)
|
rs1135402867
|
|
NM_001042492.3(NF1):c.4998dup (p.Pro1667fs)
|
rs1135402867
|
|
NM_001042492.3(NF1):c.499T>G (p.Cys167Gly)
|
rs2065903351
|
|
NM_001042492.3(NF1):c.499_502del (p.Cys167fs)
|
rs786201874
|
|
NM_001042492.3(NF1):c.5000C>T (p.Pro1667Leu)
|
|
|
NM_001042492.3(NF1):c.5001T>A (p.Pro1667=)
|
|
|
NM_001042492.3(NF1):c.5001T>C (p.Pro1667=)
|
rs2151538064
|
|
NM_001042492.3(NF1):c.500G>C (p.Cys167Ser)
|
rs2143707075
|
|
NM_001042492.3(NF1):c.5010T>C (p.Ala1670=)
|
rs2151538109
|
|
NM_001042492.3(NF1):c.5012dup (p.Tyr1671Ter)
|
rs2151538116
|
|
NM_001042492.3(NF1):c.5013C>A (p.Tyr1671Ter)
|
rs1060500255
|
|
NM_001042492.3(NF1):c.5013C>G (p.Tyr1671Ter)
|
rs1060500255
|
|
NM_001042492.3(NF1):c.5013C>T (p.Tyr1671=)
|
rs1060500255
|
|
NM_001042492.3(NF1):c.5013_5017dup (p.Asn1673fs)
|
rs1555533336
|
|
NM_001042492.3(NF1):c.5013del (p.Ala1670_Tyr1671insTer)
|
rs2069330560
|
|
NM_001042492.3(NF1):c.5014G>A (p.Asp1672Asn)
|
rs1483541195
|
|
NM_001042492.3(NF1):c.5015A>G (p.Asp1672Gly)
|
rs1555533338
|
|
NM_001042492.3(NF1):c.5015A>T (p.Asp1672Val)
|
rs1555533338
|
|
NM_001042492.3(NF1):c.5016del (p.Asp1672fs)
|
rs2069330719
|
|
NM_001042492.3(NF1):c.5017_5019del (p.Asn1673del)
|
rs2151538129
|
|
NM_001042492.3(NF1):c.5018A>G (p.Asn1673Ser)
|
rs1201910133
|
|
NM_001042492.3(NF1):c.501T>A (p.Cys167Ter)
|
rs2143707089
|
|
NM_001042492.3(NF1):c.5020G>A (p.Val1674Ile)
|
rs1555533342
|
|
NM_001042492.3(NF1):c.5021_5024dup (p.Ala1676fs)
|
rs876660286
|
|
NM_001042492.3(NF1):c.5022C>A (p.Val1674=)
|
rs1597829853
|
|
NM_001042492.3(NF1):c.5022C>T (p.Val1674=)
|
rs1597829853
|
|
NM_001042492.3(NF1):c.5024C>T (p.Ser1675Phe)
|
|
|
NM_001042492.3(NF1):c.5025C>A (p.Ser1675=)
|
rs17878418
|
|
NM_001042492.3(NF1):c.5026G>T (p.Ala1676Ser)
|
rs756450772
|
|
NM_001042492.3(NF1):c.5028A>C (p.Ala1676=)
|
|
|
NM_001042492.3(NF1):c.5029del (p.Val1677fs)
|
|
|
NM_001042492.3(NF1):c.5030T>A (p.Val1677Asp)
|
rs1060500384
|
|
NM_001042492.3(NF1):c.5030T>C (p.Val1677Ala)
|
rs1060500384
|
|
NM_001042492.3(NF1):c.5030TCTATA[3] (p.Ile1679_Tyr1680dup)
|
rs1135402868
|
|
NM_001042492.3(NF1):c.5030_5031delinsAT (p.Val1677Asp)
|
|
|
NM_001042492.3(NF1):c.5031C>T (p.Val1677=)
|
rs2151538196
|
|
NM_001042492.3(NF1):c.5032T>C (p.Tyr1678His)
|
rs786203241
|
|
NM_001042492.3(NF1):c.5032T>G (p.Tyr1678Asp)
|
|
|
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.5034T>A (p.Tyr1678Ter)
|
|
|
NM_001042492.3(NF1):c.5034T>G (p.Tyr1678Ter)
|
rs2069331323
|
|
NM_001042492.3(NF1):c.5034_5040del (p.Val1677_Tyr1678insTer)
|
|
|
NM_001042492.3(NF1):c.5035_5037del (p.Ile1679del)
|
rs2151538219
|
|
NM_001042492.3(NF1):c.5035del (p.Ile1679fs)
|
rs2151538215
|
|
NM_001042492.3(NF1):c.5036T>C (p.Ile1679Thr)
|
rs2151538224
|
|
NM_001042492.3(NF1):c.5037C>A (p.Ile1679=)
|
|
|
NM_001042492.3(NF1):c.5037C>G (p.Ile1679Met)
|
rs1555533349
|
|
NM_001042492.3(NF1):c.5037_5040del (p.Tyr1680fs)
|
|
|
NM_001042492.3(NF1):c.5038T>G (p.Tyr1680Asp)
|
rs2069331474
|
|
NM_001042492.3(NF1):c.5039A>C (p.Tyr1680Ser)
|
|
|
NM_001042492.3(NF1):c.5039A>G (p.Tyr1680Cys)
|
rs758361270
|
|
NM_001042492.3(NF1):c.5039_5041delinsT (p.Tyr1680fs)
|
rs1567611457
|
|
NM_001042492.3(NF1):c.503C>G (p.Ser168Ter)
|
rs1131691994
|
|
NM_001042492.3(NF1):c.503C>T (p.Ser168Leu)
|
|
|
NM_001042492.3(NF1):c.503dup (p.Glu169fs)
|
|
|
NM_001042492.3(NF1):c.5040T>A (p.Tyr1680Ter)
|
rs1555533351
|
|
NM_001042492.3(NF1):c.5040T>C (p.Tyr1680=)
|
rs1555533351
|
|
NM_001042492.3(NF1):c.5040T>G (p.Tyr1680Ter)
|
rs1555533351
|
|
NM_001042492.3(NF1):c.5040dup (p.Asn1681Ter)
|
|
|
NM_001042492.3(NF1):c.5042del (p.Asn1681fs)
|
|
|
NM_001042492.3(NF1):c.5042dup (p.Asn1681fs)
|
rs2151538243
|
|
NM_001042492.3(NF1):c.5043C>T (p.Asn1681=)
|
|
|
NM_001042492.3(NF1):c.5043_5044dup (p.Cys1682fs)
|
|
|
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.5046T>A (p.Cys1682Ter)
|
|
|
NM_001042492.3(NF1):c.5046T>C (p.Cys1682=)
|
rs1597829912
|
|
NM_001042492.3(NF1):c.5046_5047insG (p.Asn1683fs)
|
|
|
NM_001042492.3(NF1):c.5046dup (p.Asn1683Ter)
|
rs1597829913
|
|
NM_001042492.3(NF1):c.5048del (p.Asn1683fs)
|
|
|
NM_001042492.3(NF1):c.5049C>A (p.Asn1683Lys)
|
|
|
NM_001042492.3(NF1):c.5049C>G (p.Asn1683Lys)
|
rs140994965
|
|
NM_001042492.3(NF1):c.5049_5059del (p.Asn1683fs)
|
rs2069331850
|
|
NM_001042492.3(NF1):c.504A>G (p.Ser168=)
|
rs876658638
|
|
NM_001042492.3(NF1):c.5050T>C (p.Ser1684Pro)
|
|
|
NM_001042492.3(NF1):c.5050del (p.Ser1684fs)
|
|
|
NM_001042492.3(NF1):c.5051C>G (p.Ser1684Cys)
|
rs2151538280
|
|
NM_001042492.3(NF1):c.5052C>T (p.Ser1684=)
|
|
|
NM_001042492.3(NF1):c.5054G>A (p.Trp1685Ter)
|
|
|
NM_001042492.3(NF1):c.5054_5058del (p.Ser1684_Trp1685insTer)
|
|
|
NM_001042492.3(NF1):c.5055G>A (p.Trp1685Ter)
|
rs1555533354
|
|
NM_001042492.3(NF1):c.5055G>T (p.Trp1685Cys)
|
|
|
NM_001042492.3(NF1):c.5056del (p.Val1686fs)
|
|
|
NM_001042492.3(NF1):c.5058C>T (p.Val1686=)
|
rs1315128684
|
|
NM_001042492.3(NF1):c.5059A>G (p.Arg1687Gly)
|
rs746461616
|
|
NM_001042492.3(NF1):c.5059_5060del (p.Arg1687fs)
|
|
|
NM_001042492.3(NF1):c.5059del (p.Arg1687fs)
|
|
|
NM_001042492.3(NF1):c.5060G>A (p.Arg1687Lys)
|
rs2151538312
|
|
NM_001042492.3(NF1):c.5060G>C (p.Arg1687Thr)
|
|
|
NM_001042492.3(NF1):c.5061G>A (p.Arg1687=)
|
rs2069332144
|
|
NM_001042492.3(NF1):c.5061G>C (p.Arg1687Ser)
|
rs2069332144
|
|
NM_001042492.3(NF1):c.5062G>T (p.Glu1688Ter)
|
rs1135402869
|
|
NM_001042492.3(NF1):c.5063_5066dup (p.Tyr1689Ter)
|
rs2151538327
|
|
NM_001042492.3(NF1):c.5064G>A (p.Glu1688=)
|
|
|
NM_001042492.3(NF1):c.5065dup (p.Tyr1689fs)
|
rs1555533359
|
|
NM_001042492.3(NF1):c.5066A>G (p.Tyr1689Cys)
|
|
|
NM_001042492.3(NF1):c.5067C>A (p.Tyr1689Ter)
|
rs756708811
|
|
NM_001042492.3(NF1):c.5067C>G (p.Tyr1689Ter)
|
|
|
NM_001042492.3(NF1):c.5068A>C (p.Thr1690Pro)
|
rs2069332520
|
|
NM_001042492.3(NF1):c.5069_5070insTTG (p.Thr1690_Lys1691insCys)
|
|
|
NM_001042492.3(NF1):c.5070C>A (p.Thr1690=)
|
rs2151538356
|
|
NM_001042492.3(NF1):c.5071A>G (p.Lys1691Glu)
|
|
|
NM_001042492.3(NF1):c.5071A>T (p.Lys1691Ter)
|
|
|
NM_001042492.3(NF1):c.5072A>C (p.Lys1691Thr)
|
rs863224661
|
|
NM_001042492.3(NF1):c.5072A>G (p.Lys1691Arg)
|
rs863224661
|
|
NM_001042492.3(NF1):c.5072_5073delinsCCC (p.Lys1691fs)
|
rs1555533363
|
|
NM_001042492.3(NF1):c.5073G>A (p.Lys1691=)
|
rs1597829953
|
|
NM_001042492.3(NF1):c.5073G>C (p.Lys1691Asn)
|
rs1597829953
|
|
NM_001042492.3(NF1):c.5074dup (p.Tyr1692fs)
|
|
|
NM_001042492.3(NF1):c.5075A>G (p.Tyr1692Cys)
|
|
|
NM_001042492.3(NF1):c.5075_5079del (p.Lys1691_Tyr1692insTer)
|
|
|
NM_001042492.3(NF1):c.5075del (p.Tyr1692fs)
|
rs2069332805
|
|
NM_001042492.3(NF1):c.5076T>G (p.Tyr1692Ter)
|
|
|
NM_001042492.3(NF1):c.5077C>A (p.His1693Asn)
|
rs2069332893
|
|
NM_001042492.3(NF1):c.5078A>G (p.His1693Arg)
|
rs2151538392
|
|
NM_001042492.3(NF1):c.5079T>C (p.His1693=)
|
|
|
NM_001042492.3(NF1):c.5079del (p.His1693fs)
|
rs1597829969
|
|
NM_001042492.3(NF1):c.507A>C (p.Glu169Asp)
|
|
|
NM_001042492.3(NF1):c.5080G>T (p.Glu1694Ter)
|
|
|
NM_001042492.3(NF1):c.5083C>A (p.Arg1695=)
|
rs1567611500
|
|
NM_001042492.3(NF1):c.5083C>T (p.Arg1695Trp)
|
rs1567611500
|
|
NM_001042492.3(NF1):c.5083_5084dup (p.Leu1696fs)
|
rs1555533366
|
|
NM_001042492.3(NF1):c.5084G>A (p.Arg1695Gln)
|
rs1555533367
|
|
NM_001042492.3(NF1):c.5087del (p.Leu1696fs)
|
rs1555533368
|
|
NM_001042492.3(NF1):c.5088G>A (p.Leu1696=)
|
rs786203568
|
|
NM_001042492.3(NF1):c.5089_5095dup (p.Gly1699fs)
|
|
|
NM_001042492.3(NF1):c.508G>A (p.Asp170Asn)
|
|
|
NM_001042492.3(NF1):c.508G>T (p.Asp170Tyr)
|
rs2065903486
|
|
NM_001042492.3(NF1):c.5090_5097dup (p.Leu1700Ter)
|
|
|
NM_001042492.3(NF1):c.5090dup (p.Thr1698fs)
|
rs2151538435
|
|
NM_001042492.3(NF1):c.5091G>C (p.Leu1697=)
|
rs876659589
|
|
NM_001042492.3(NF1):c.5092A>T (p.Thr1698Ser)
|
rs876659017
|
|
NM_001042492.3(NF1):c.5092_5095del (p.Thr1698fs)
|
rs2069333368
|
|
NM_001042492.3(NF1):c.5093C>G (p.Thr1698Ser)
|
rs769469854
|
|
NM_001042492.3(NF1):c.5093C>T (p.Thr1698Ile)
|
|
|
NM_001042492.3(NF1):c.5095G>A (p.Gly1699Ser)
|
rs1597830004
|
|
NM_001042492.3(NF1):c.5096G>A (p.Gly1699Asp)
|
rs2069333669
|
|
NM_001042492.3(NF1):c.5096G>C (p.Gly1699Ala)
|
rs2069333669
|
|
NM_001042492.3(NF1):c.5100C>G (p.Leu1700=)
|
rs2151538475
|
|
NM_001042492.3(NF1):c.5100C>T (p.Leu1700=)
|
|
|
NM_001042492.3(NF1):c.5102A>C (p.Lys1701Thr)
|
rs1597830021
|
|
NM_001042492.3(NF1):c.5102A>T (p.Lys1701Ile)
|
rs1597830021
|
|
NM_001042492.3(NF1):c.5104G>A (p.Gly1702Ser)
|
|
|
NM_001042492.3(NF1):c.5105G>A (p.Gly1702Asp)
|
rs2069333953
|
|
NM_001042492.3(NF1):c.5106T>C (p.Gly1702=)
|
|
|
NM_001042492.3(NF1):c.5107A>G (p.Ser1703Gly)
|
rs1555533374
|
|
NM_001042492.3(NF1):c.5108G>A (p.Ser1703Asn)
|
rs876660159
|
|
NM_001042492.3(NF1):c.5108G>C (p.Ser1703Thr)
|
rs876660159
|
|
NM_001042492.3(NF1):c.510C>A (p.Asp170Glu)
|
rs1597643788
|
|
NM_001042492.3(NF1):c.510C>G (p.Asp170Glu)
|
|
|
NM_001042492.3(NF1):c.5110A>G (p.Lys1704Glu)
|
|
|
NM_001042492.3(NF1):c.5110A>T (p.Lys1704Ter)
|
|
|
NM_001042492.3(NF1):c.5113A>G (p.Arg1705Gly)
|
|
|
NM_001042492.3(NF1):c.5113del (p.Arg1705fs)
|
|
|
NM_001042492.3(NF1):c.5114G>A (p.Arg1705Lys)
|
rs876660487
|
|
NM_001042492.3(NF1):c.5115G>T (p.Arg1705Ser)
|
|
|
NM_001042492.3(NF1):c.5115del (p.Arg1705fs)
|
|
|
NM_001042492.3(NF1):c.5116del (p.Val1707fs)
|
|
|
NM_001042492.3(NF1):c.5118T>A (p.Leu1706=)
|
rs1597830053
|
|
NM_001042492.3(NF1):c.5118del (p.Val1707fs)
|
rs1597830046
|
|
NM_001042492.3(NF1):c.5119G>A (p.Val1707Ile)
|
rs1302949776
|
|
NM_001042492.3(NF1):c.5119_5126del (p.Val1707fs)
|
rs2151538552
|
|
NM_001042492.3(NF1):c.511A>C (p.Asn171His)
|
rs1597643796
|
|
NM_001042492.3(NF1):c.511A>G (p.Asn171Asp)
|
rs1597643796
|
|
NM_001042492.3(NF1):c.5121T>A (p.Val1707=)
|
|
|
NM_001042492.3(NF1):c.5121_5133del (p.Phe1708fs)
|
|
|
NM_001042492.3(NF1):c.5123T>G (p.Phe1708Cys)
|
rs1597830056
|
|
NM_001042492.3(NF1):c.5124C>T (p.Phe1708=)
|
|
|
NM_001042492.3(NF1):c.5124del (p.Phe1708fs)
|
|
|
NM_001042492.3(NF1):c.5126T>A (p.Ile1709Lys)
|
rs876660316
|
|
NM_001042492.3(NF1):c.5126T>G (p.Ile1709Arg)
|
rs876660316
|
|
NM_001042492.3(NF1):c.5128G>A (p.Asp1710Asn)
|
rs1428709938
|
|
NM_001042492.3(NF1):c.5129del (p.Asp1710fs)
|
rs2069334590
|
|
NM_001042492.3(NF1):c.512A>C (p.Asn171Thr)
|
rs767500770
|
|
NM_001042492.3(NF1):c.512del (p.Asn171fs)
|
|
|
NM_001042492.3(NF1):c.5130_5131del (p.Asp1710fs)
|
|
|
NM_001042492.3(NF1):c.5132G>T (p.Cys1711Phe)
|
rs1567611549
|
|
NM_001042492.3(NF1):c.5133T>C (p.Cys1711=)
|
rs2151538622
|
|
NM_001042492.3(NF1):c.5134_5135del (p.Pro1712fs)
|
rs2151538635
|
|
NM_001042492.3(NF1):c.5135del (p.Pro1712fs)
|
rs2151538630
|
|
NM_001042492.3(NF1):c.5136T>G (p.Pro1712=)
|
rs2151538643
|
|
NM_001042492.3(NF1):c.5137G>C (p.Gly1713Arg)
|
rs2151538644
|
|
NM_001042492.3(NF1):c.5139G>A (p.Gly1713=)
|
rs786202181
|
|
NM_001042492.3(NF1):c.5139del (p.Lys1714fs)
|
|
|
NM_001042492.3(NF1):c.513T>C (p.Asn171=)
|
|
|
NM_001042492.3(NF1):c.513del (p.Asn171fs)
|
rs2143707235
|
|
NM_001042492.3(NF1):c.5140A>G (p.Lys1714Glu)
|
rs1597830089
|
|
NM_001042492.3(NF1):c.5141A>C (p.Lys1714Thr)
|
rs2069334864
|
|
NM_001042492.3(NF1):c.5142A>C (p.Lys1714Asn)
|
rs1555533379
|
|
NM_001042492.3(NF1):c.5142A>G (p.Lys1714=)
|
rs1555533379
|
|
NM_001042492.3(NF1):c.5143C>G (p.Leu1715Val)
|
|
|
NM_001042492.3(NF1):c.5143C>T (p.Leu1715=)
|
rs1597830104
|
|
NM_001042492.3(NF1):c.5144T>C (p.Leu1715Pro)
|
rs2151538677
|
|
NM_001042492.3(NF1):c.5146G>A (p.Ala1716Thr)
|
rs767469374
|
|
NM_001042492.3(NF1):c.5148T>C (p.Ala1716=)
|
rs2151538691
|
|
NM_001042492.3(NF1):c.514G>A (p.Val172Ile)
|
rs1555607083
|
|
NM_001042492.3(NF1):c.514_515dup (p.Asp173fs)
|
|
|
NM_001042492.3(NF1):c.5151G>A (p.Glu1717=)
|
|
|
NM_001042492.3(NF1):c.5152C>G (p.His1718Asp)
|
|
|
NM_001042492.3(NF1):c.5152C>T (p.His1718Tyr)
|
rs1555533381
|
|
NM_001042492.3(NF1):c.5153A>T (p.His1718Leu)
|
|
|
NM_001042492.3(NF1):c.5154C>T (p.His1718=)
|
rs1597830130
|
|
NM_001042492.3(NF1):c.5154_5155del (p.Ile1719fs)
|
|
|
NM_001042492.3(NF1):c.5155A>C (p.Ile1719Leu)
|
|
|
NM_001042492.3(NF1):c.5155A>G (p.Ile1719Val)
|
rs1434439252
|
|
NM_001042492.3(NF1):c.5156_5157del (p.Ile1719fs)
|
|
|
NM_001042492.3(NF1):c.5156dup (p.Glu1720fs)
|
|
|
NM_001042492.3(NF1):c.5157del (p.Ile1719fs)
|
rs1555533382
|
|
NM_001042492.3(NF1):c.5157dup (p.Glu1720fs)
|
|
|
NM_001042492.3(NF1):c.5158G>A (p.Glu1720Lys)
|
|
|
NM_001042492.3(NF1):c.5158G>C (p.Glu1720Gln)
|
|
|
NM_001042492.3(NF1):c.5158G>T (p.Glu1720Ter)
|
rs2069335393
|
|
NM_001042492.3(NF1):c.5158del (p.Glu1720fs)
|
rs2151538733
|
|
NM_001042492.3(NF1):c.5160G>C (p.Glu1720Asp)
|
rs773378630
|
|
NM_001042492.3(NF1):c.5163T>C (p.His1721=)
|
rs267604792
|
|
NM_001042492.3(NF1):c.5163T>G (p.His1721Gln)
|
rs267604792
|
|
NM_001042492.3(NF1):c.5164G>A (p.Glu1722Lys)
|
|
|
NM_001042492.3(NF1):c.5166A>G (p.Glu1722=)
|
rs1597830174
|
|
NM_001042492.3(NF1):c.5166A>T (p.Glu1722Asp)
|
rs1597830174
|
|
NM_001042492.3(NF1):c.5167C>T (p.Gln1723Ter)
|
rs766727694
|
|
NM_001042492.3(NF1):c.5169A>G (p.Gln1723=)
|
rs864622372
|
|
NM_001042492.3(NF1):c.5169A>T (p.Gln1723His)
|
rs864622372
|
|
NM_001042492.3(NF1):c.5170C>G (p.Gln1724Glu)
|
rs1567611587
|
|
NM_001042492.3(NF1):c.5170C>T (p.Gln1724Ter)
|
|
|
NM_001042492.3(NF1):c.5172_5173del (p.Lys1725fs)
|
rs2069336015
|
|
NM_001042492.3(NF1):c.5173_5174insGCATGAGCACATAGAGCATGA (p.Lys1725delinsSerMetSerThrTer)
|
|
|
NM_001042492.3(NF1):c.5175A>G (p.Lys1725=)
|
rs1372069749
|
|
NM_001042492.3(NF1):c.5175del (p.Lys1725fs)
|
rs2151538793
|
|
NM_001042492.3(NF1):c.5177T>G (p.Leu1726Arg)
|
rs2151538809
|
|
NM_001042492.3(NF1):c.5178del (p.Pro1727fs)
|
rs1555533393
|
|
NM_001042492.3(NF1):c.5180C>G (p.Pro1727Arg)
|
rs2069336255
|
|
NM_001042492.3(NF1):c.5180del (p.Pro1727fs)
|
|
|
NM_001042492.3(NF1):c.5181T>C (p.Pro1727=)
|
rs2151538814
|
|
NM_001042492.3(NF1):c.5181T>G (p.Pro1727=)
|
|
|
NM_001042492.3(NF1):c.5181dup (p.Ala1728fs)
|
|
|
NM_001042492.3(NF1):c.5184T>C (p.Ala1728=)
|
rs546932099
|
|
NM_001042492.3(NF1):c.5185G>C (p.Ala1729Pro)
|
|
|
NM_001042492.3(NF1):c.5186_5190del (p.Ala1729fs)
|
rs2151538841
|
|
NM_001042492.3(NF1):c.5188A>C (p.Thr1730Pro)
|
|
|
NM_001042492.3(NF1):c.5188A>G (p.Thr1730Ala)
|
|
|
NM_001042492.3(NF1):c.5189C>G (p.Thr1730Ser)
|
rs772831692
|
|
NM_001042492.3(NF1):c.5189C>T (p.Thr1730Ile)
|
rs772831692
|
|
NM_001042492.3(NF1):c.518A>T (p.Asp173Val)
|
rs1597643820
|
|
NM_001042492.3(NF1):c.5190C>T (p.Thr1730=)
|
rs143230984
|
|
NM_001042492.3(NF1):c.5191T>C (p.Leu1731=)
|
rs876658602
|
|
NM_001042492.3(NF1):c.5191T>G (p.Leu1731Val)
|
rs876658602
|
|
NM_001042492.3(NF1):c.5192T>A (p.Leu1731Ter)
|
rs1567611604
|
|
NM_001042492.3(NF1):c.5192del (p.Leu1731fs)
|
|
|
NM_001042492.3(NF1):c.5194G>A (p.Ala1732Thr)
|
rs2069336671
|
|
NM_001042492.3(NF1):c.5194G>C (p.Ala1732Pro)
|
|
|
NM_001042492.3(NF1):c.5195C>G (p.Ala1732Gly)
|
rs202037436
|
|
NM_001042492.3(NF1):c.5196_5199del (p.Leu1733fs)
|
|
|
NM_001042492.3(NF1):c.5198T>A (p.Leu1733Ter)
|
rs2069336790
|
|
NM_001042492.3(NF1):c.5198T>G (p.Leu1733Ter)
|
rs2069336790
|
|
NM_001042492.3(NF1):c.5199_5204AGA[2]CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAGA[1] (p.Glu1735delinsAspHisProGlyTer)
|
|
|
NM_001042492.3(NF1):c.5199_5230delinsTGCT (p.Leu1733fs)
|
rs2069336948
|
|
NM_001042492.3(NF1):c.519T>C (p.Asp173=)
|
|
|
NM_001042492.3(NF1):c.519_520insCAA (p.Asp173_Val174insGln)
|
rs2143707301
|
|
NM_001042492.3(NF1):c.5200G>T (p.Glu1734Ter)
|
|
|
NM_001042492.3(NF1):c.5202del (p.Glu1735fs)
|
|
|
NM_001042492.3(NF1):c.5203G>T (p.Glu1735Ter)
|
rs2151538896
|
|
NM_001042492.3(NF1):c.5204_5205del (p.Glu1735fs)
|
|
|
NM_001042492.3(NF1):c.5204del (p.Glu1735fs)
|
|
|
NM_001042492.3(NF1):c.5205_5206insA (p.Asp1736fs)
|
|
|
NM_001042492.3(NF1):c.5208C>T (p.Asp1736=)
|
rs757260226
|
|
NM_001042492.3(NF1):c.520G>A (p.Val174Ile)
|
rs1555607084
|
|
NM_001042492.3(NF1):c.520G>T (p.Val174Phe)
|
rs1555607084
|
|
NM_001042492.3(NF1):c.520del (p.Val174fs)
|
|
|
NM_001042492.3(NF1):c.5210T>A (p.Leu1737Gln)
|
|
|
NM_001042492.3(NF1):c.5212A>G (p.Lys1738Glu)
|
rs2069337096
|
|
NM_001042492.3(NF1):c.5212A>T (p.Lys1738Ter)
|
|
|
NM_001042492.3(NF1):c.5213_5217del (p.Lys1738fs)
|
|
|
NM_001042492.3(NF1):c.5214G>A (p.Lys1738=)
|
|
|
NM_001042492.3(NF1):c.5215G>A (p.Val1739Ile)
|
|
|
NM_001042492.3(NF1):c.5215G>C (p.Val1739Leu)
|
rs876659956
|
|
NM_001042492.3(NF1):c.5215_5216del (p.Val1739fs)
|
|
|
NM_001042492.3(NF1):c.5217A>G (p.Val1739=)
|
rs1228790204
|
|
NM_001042492.3(NF1):c.5217A>T (p.Val1739=)
|
|
|
NM_001042492.3(NF1):c.5219T>G (p.Phe1740Cys)
|
|
|
NM_001042492.3(NF1):c.5220C>T (p.Phe1740=)
|
|
|
NM_001042492.3(NF1):c.5221C>A (p.His1741Asn)
|
rs780529277
|
|
NM_001042492.3(NF1):c.5221C>G (p.His1741Asp)
|
|
|
NM_001042492.3(NF1):c.5221C>T (p.His1741Tyr)
|
rs780529277
|
|
NM_001042492.3(NF1):c.5223dup (p.Asn1742fs)
|
|
|
NM_001042492.3(NF1):c.5224A>G (p.Asn1742Asp)
|
rs2069337415
|
|
NM_001042492.3(NF1):c.5226T>C (p.Asn1742=)
|
rs1597830255
|
|
NM_001042492.3(NF1):c.5226_5234del (p.Asn1742_Leu1744del)
|
|
|
NM_001042492.3(NF1):c.5227G>C (p.Ala1743Pro)
|
rs878853900
|
|
NM_001042492.3(NF1):c.5227G>T (p.Ala1743Ser)
|
|
|
NM_001042492.3(NF1):c.5229T>G (p.Ala1743=)
|
|
|
NM_001042492.3(NF1):c.5230C>T (p.Leu1744Phe)
|
rs1555533407
|
|
NM_001042492.3(NF1):c.5232C>G (p.Leu1744=)
|
rs1597830268
|
|
NM_001042492.3(NF1):c.5232C>T (p.Leu1744=)
|
|
|
NM_001042492.3(NF1):c.5233A>C (p.Lys1745Gln)
|
rs2151538985
|
|
NM_001042492.3(NF1):c.5236C>A (p.Leu1746Ile)
|
|
|
NM_001042492.3(NF1):c.5236C>T (p.Leu1746=)
|
|
|
NM_001042492.3(NF1):c.5236dup (p.Leu1746fs)
|
rs2069337884
|
|
NM_001042492.3(NF1):c.5237_5238insG (p.Ala1747fs)
|
|
|
NM_001042492.3(NF1):c.5238A>G (p.Leu1746=)
|
rs779689556
|
|
NM_001042492.3(NF1):c.5241_5242dup (p.His1748fs)
|
|
|
NM_001042492.3(NF1):c.5244C>G (p.His1748Gln)
|
|
|
NM_001042492.3(NF1):c.5244C>T (p.His1748=)
|
rs749010787
|
|
NM_001042492.3(NF1):c.5245A>G (p.Lys1749Glu)
|
rs2069338050
|
|
NM_001042492.3(NF1):c.5246_5247del (p.Lys1749fs)
|
rs1555533409
|
|
NM_001042492.3(NF1):c.5249del (p.Asp1750fs)
|
|
|
NM_001042492.3(NF1):c.524A>G (p.His175Arg)
|
|
|
NM_001042492.3(NF1):c.5250C>T (p.Asp1750=)
|
rs1210732116
|
|
NM_001042492.3(NF1):c.5251_5252del (p.Thr1751fs)
|
|
|
NM_001042492.3(NF1):c.5251del (p.Thr1751fs)
|
|
|
NM_001042492.3(NF1):c.5251dup (p.Thr1751fs)
|
rs2151539064
|
|
NM_001042492.3(NF1):c.5252C>A (p.Thr1751Asn)
|
|
|
NM_001042492.3(NF1):c.5252C>T (p.Thr1751Ile)
|
|
|
NM_001042492.3(NF1):c.5253C>A (p.Thr1751=)
|
rs768884582
|
|
NM_001042492.3(NF1):c.5254A>G (p.Lys1752Glu)
|
rs2069338262
|
|
NM_001042492.3(NF1):c.5255_5256del (p.Lys1752fs)
|
rs2069338311
|
|
NM_001042492.3(NF1):c.5256A>G (p.Lys1752=)
|
rs1060503899
|
|
NM_001042492.3(NF1):c.5256del (p.Val1753fs)
|
rs2069338311
|
|
NM_001042492.3(NF1):c.5259T>G (p.Val1753=)
|
rs2151539086
|
|
NM_001042492.3(NF1):c.5259_5260del (p.Ser1754fs)
|
rs2151539085
|
|
NM_001042492.3(NF1):c.5260T>C (p.Ser1754Pro)
|
|
|
NM_001042492.3(NF1):c.5260T>G (p.Ser1754Ala)
|
|
|
NM_001042492.3(NF1):c.5260del (p.Ser1754fs)
|
|
|
NM_001042492.3(NF1):c.5260dup (p.Ser1754fs)
|
|
|
NM_001042492.3(NF1):c.5261del (p.Ser1754fs)
|
rs2151539102
|
|
NM_001042492.3(NF1):c.5262_5268del (p.Ile1755fs)
|
rs2151539106
|
|
NM_001042492.3(NF1):c.5264T>G (p.Ile1755Ser)
|
|
|
NM_001042492.3(NF1):c.5264_5265dup (p.Lys1756fs)
|
rs2151539112
|
|
NM_001042492.3(NF1):c.5265del (p.Val1757fs)
|
|
|
NM_001042492.3(NF1):c.5266A>T (p.Lys1756Ter)
|
|
|
NM_001042492.3(NF1):c.5267A>C (p.Lys1756Thr)
|
|
|
NM_001042492.3(NF1):c.5267_5268del (p.Lys1756fs)
|
rs2151539120
|
|
NM_001042492.3(NF1):c.5268+15G>A
|
rs1364346008
|
|
NM_001042492.3(NF1):c.5268+17_5268+18del
|
rs749509735
|
|
NM_001042492.3(NF1):c.5268+18T>G
|
rs2151539199
|
|
NM_001042492.3(NF1):c.5268+1G>A
|
|
|
NM_001042492.3(NF1):c.5268+1G>T
|
rs2069338793
|
|
NM_001042492.3(NF1):c.5268+1del
|
rs2151539137
|
|
NM_001042492.3(NF1):c.5268+2T>C
|
rs1555533416
|
|
NM_001042492.3(NF1):c.5268+2T>G
|
rs1555533416
|
|
NM_001042492.3(NF1):c.5268+2dup
|
|
|
NM_001042492.3(NF1):c.5268+3A>C
|
|
|
NM_001042492.3(NF1):c.5268+3A>G
|
|
|
NM_001042492.3(NF1):c.5268+3_5268+6del
|
|
|
NM_001042492.3(NF1):c.5268+4A>G
|
rs1555533418
|
|
NM_001042492.3(NF1):c.5268+4del
|
rs2151539144
|
|
NM_001042492.3(NF1):c.5268+4dup
|
|
|
NM_001042492.3(NF1):c.5268+5G>A
|
rs864622551
|
|
NM_001042492.3(NF1):c.5268+5G>C
|
rs864622551
|
|
NM_001042492.3(NF1):c.5268+5del
|
|
|
NM_001042492.3(NF1):c.5268+8C>G
|
rs2151539157
|
|
NM_001042492.3(NF1):c.5268+8C>T
|
|
|
NM_001042492.3(NF1):c.5268_5268+1delinsCA
|
rs2151539134
|
|
NM_001042492.3(NF1):c.5268_5268+4del
|
|
|
NM_001042492.3(NF1):c.5269-10C>T
|
|
|
NM_001042492.3(NF1):c.5269-11C>G
|
|
|
NM_001042492.3(NF1):c.5269-11C>T
|
rs2151540713
|
|
NM_001042492.3(NF1):c.5269-13C>G
|
|
|
NM_001042492.3(NF1):c.5269-14C>G
|
rs753463683
|
|
NM_001042492.3(NF1):c.5269-15A>G
|
rs2151540701
|
|
NM_001042492.3(NF1):c.5269-15dup
|
|
|
NM_001042492.3(NF1):c.5269-19C>A
|
rs755620051
|
|
NM_001042492.3(NF1):c.5269-1G>A
|
rs876660141
|
|
NM_001042492.3(NF1):c.5269-1G>C
|
rs876660141
|
|
NM_001042492.3(NF1):c.5269-20C>T
|
rs2151540678
|
|
NM_001042492.3(NF1):c.5269-2A>C
|
|
|
NM_001042492.3(NF1):c.5269-2A>G
|
rs1555533548
|
|
NM_001042492.3(NF1):c.5269-2A>T
|
rs1555533548
|
|
NM_001042492.3(NF1):c.5269-38A>G
|
rs2151540615
|
|
NM_001042492.3(NF1):c.5269-3C>G
|
|
|
NM_001042492.3(NF1):c.5269-41_5291del
|
rs1555533543
|
|
NM_001042492.3(NF1):c.5269-4C>G
|
rs1555533547
|
|
NM_001042492.3(NF1):c.5269-4C>T
|
rs1555533547
|
|
NM_001042492.3(NF1):c.5269-6T>C
|
rs1597831812
|
|
NM_001042492.3(NF1):c.5269-8C>G
|
rs1597831805
|
|
NM_001042492.3(NF1):c.5269G>T (p.Val1757Phe)
|
|
|
NM_001042492.3(NF1):c.5270T>A (p.Val1757Asp)
|
rs1021835871
|
|
NM_001042492.3(NF1):c.5270T>G (p.Val1757Gly)
|
rs1021835871
|
|
NM_001042492.3(NF1):c.5271T>A (p.Val1757=)
|
rs1399095966
|
|
NM_001042492.3(NF1):c.5272_5273dup (p.Ser1759fs)
|
|
|
NM_001042492.3(NF1):c.5273G>A (p.Gly1758Asp)
|
rs1358882546
|
|
NM_001042492.3(NF1):c.5273G>C (p.Gly1758Ala)
|
rs1358882546
|
|
NM_001042492.3(NF1):c.5273_5276dup (p.Thr1760fs)
|
rs2151540775
|
|
NM_001042492.3(NF1):c.5274T>C (p.Gly1758=)
|
rs2151540780
|
|
NM_001042492.3(NF1):c.5275T>C (p.Ser1759Pro)
|
rs2069375050
|
|
NM_001042492.3(NF1):c.5275T>G (p.Ser1759Ala)
|
rs2069375050
|
|
NM_001042492.3(NF1):c.5278A>G (p.Thr1760Ala)
|
|
|
NM_001042492.3(NF1):c.527A>G (p.Asp176Gly)
|
rs1567820732
|
|
NM_001042492.3(NF1):c.5280T>G (p.Thr1760=)
|
|
|
NM_001042492.3(NF1):c.5281G>A (p.Ala1761Thr)
|
rs2069375243
|
|
NM_001042492.3(NF1):c.5281G>C (p.Ala1761Pro)
|
rs2069375243
|
|
NM_001042492.3(NF1):c.5282C>G (p.Ala1761Gly)
|
rs2069375331
|
|
NM_001042492.3(NF1):c.5283_5300del (p.Val1762_Ala1767del)
|
|
|
NM_001042492.3(NF1):c.5284G>A (p.Val1762Ile)
|
rs1060500290
|
|
NM_001042492.3(NF1):c.5285T>A (p.Val1762Asp)
|
rs1555533550
|
|
NM_001042492.3(NF1):c.5285T>C (p.Val1762Ala)
|
rs1555533550
|
|
NM_001042492.3(NF1):c.5285del (p.Val1762fs)
|
|
|
NM_001042492.3(NF1):c.5286_5289del (p.Val1762_Gln1763insTer)
|
rs1597831854
|
|
NM_001042492.3(NF1):c.5287C>G (p.Gln1763Glu)
|
|
|
NM_001042492.3(NF1):c.5287C>T (p.Gln1763Ter)
|
rs2069375606
|
|
NM_001042492.3(NF1):c.5287del (p.Gln1763fs)
|
rs2151540817
|
|
NM_001042492.3(NF1):c.5290G>T (p.Val1764Leu)
|
rs778427434
|
|
NM_001042492.3(NF1):c.5290del (p.Gln1763_Val1764insTer)
|
rs2151540840
|
|
NM_001042492.3(NF1):c.5292A>G (p.Val1764=)
|
rs1597831870
|
|
NM_001042492.3(NF1):c.5294C>T (p.Thr1765Ile)
|
rs2151540847
|
|
NM_001042492.3(NF1):c.5295T>C (p.Thr1765=)
|
rs1286956337
|
|
NM_001042492.3(NF1):c.5295_5296del (p.Ala1767fs)
|
rs1555533552
|
|
NM_001042492.3(NF1):c.5297C>A (p.Ser1766Ter)
|
rs1555533555
|
|
NM_001042492.3(NF1):c.5297C>G (p.Ser1766Ter)
|
rs1555533555
|
|
NM_001042492.3(NF1):c.5298A>G (p.Ser1766=)
|
|
|
NM_001042492.3(NF1):c.5299G>A (p.Ala1767Thr)
|
rs529905904
|
|
NM_001042492.3(NF1):c.5299G>T (p.Ala1767Ser)
|
rs529905904
|
|
NM_001042492.3(NF1):c.529dup (p.Ile177fs)
|
rs1555607093
|
|
NM_001042492.3(NF1):c.5301A>G (p.Ala1767=)
|
|
|
NM_001042492.3(NF1):c.5301del (p.Glu1768fs)
|
|
|
NM_001042492.3(NF1):c.5302G>T (p.Glu1768Ter)
|
|
|
NM_001042492.3(NF1):c.5303del (p.Glu1768fs)
|
|
|
NM_001042492.3(NF1):c.5304G>C (p.Glu1768Asp)
|
rs2069376025
|
|
NM_001042492.3(NF1):c.5305C>G (p.Arg1769Gly)
|
|
|
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.5306G>C (p.Arg1769Pro)
|
|
|
NM_001042492.3(NF1):c.5307A>G (p.Arg1769=)
|
rs2151540899
|
|
NM_001042492.3(NF1):c.5308del (p.Thr1770fs)
|
rs2069376216
|
|
NM_001042492.3(NF1):c.530T>A (p.Ile177Lys)
|
|
|
NM_001042492.3(NF1):c.530T>C (p.Ile177Thr)
|
|
|
NM_001042492.3(NF1):c.530T>G (p.Ile177Arg)
|
rs2143707493
|
|
NM_001042492.3(NF1):c.530_531dup (p.Glu178Ter)
|
|
|
NM_001042492.3(NF1):c.5310A>C (p.Thr1770=)
|
rs2069376282
|
|
NM_001042492.3(NF1):c.5310A>G (p.Thr1770=)
|
|
|
NM_001042492.3(NF1):c.5310A>T (p.Thr1770=)
|
|
|
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu)
|
rs1131691103
|
|
NM_001042492.3(NF1):c.5312_5325del (p.Lys1771fs)
|
|
|
NM_001042492.3(NF1):c.5313del (p.Val1772fs)
|
rs2151540910
|
|
NM_001042492.3(NF1):c.5314G>A (p.Val1772Ile)
|
|
|
NM_001042492.3(NF1):c.5314_5339del (p.Lys1771_Val1772insTer)
|
rs2069376426
|
|
NM_001042492.3(NF1):c.5314del (p.Val1772fs)
|
|
|
NM_001042492.3(NF1):c.5315T>A (p.Val1772Asp)
|
rs1209831572
|
|
NM_001042492.3(NF1):c.5317C>G (p.Leu1773Val)
|
|
|
NM_001042492.3(NF1):c.5317C>T (p.Leu1773=)
|
rs1597831909
|
|
NM_001042492.3(NF1):c.5317dup (p.Leu1773fs)
|
rs1555533561
|
|
NM_001042492.3(NF1):c.5318T>C (p.Leu1773Pro)
|
rs1597831917
|
|
NM_001042492.3(NF1):c.5322G>C (p.Gly1774=)
|
|
|
NM_001042492.3(NF1):c.5322G>T (p.Gly1774=)
|
rs201584313
|
|
NM_001042492.3(NF1):c.5322del (p.Gln1775fs)
|
|
|
NM_001042492.3(NF1):c.5323C>T (p.Gln1775Ter)
|
rs2151540968
|
|
NM_001042492.3(NF1):c.5324A>T (p.Gln1775Leu)
|
|
|
NM_001042492.3(NF1):c.5325A>G (p.Gln1775=)
|
rs2069376896
|
|
NM_001042492.3(NF1):c.5325_5328del (p.Val1777fs)
|
|
|
NM_001042492.3(NF1):c.5327C>G (p.Ser1776Ter)
|
rs2069376973
|
|
NM_001042492.3(NF1):c.5328A>G (p.Ser1776=)
|
rs759639187
|
|
NM_001042492.3(NF1):c.5328_5329delinsTA (p.Val1777Ile)
|
rs2069377113
|
|
NM_001042492.3(NF1):c.5328dup (p.Val1777fs)
|
|
|
NM_001042492.3(NF1):c.5329G>A (p.Val1777Ile)
|
rs876658562
|
|
NM_001042492.3(NF1):c.5329G>T (p.Val1777Phe)
|
rs876658562
|
|
NM_001042492.3(NF1):c.5329del (p.Val1777fs)
|
rs2069377259
|
|
NM_001042492.3(NF1):c.5331C>G (p.Val1777=)
|
|
|
NM_001042492.3(NF1):c.5331C>T (p.Val1777=)
|
|
|
NM_001042492.3(NF1):c.5332T>C (p.Phe1778Leu)
|
|
|
NM_001042492.3(NF1):c.5333_5334del (p.Phe1778fs)
|
rs1555533566
|
|
NM_001042492.3(NF1):c.5334del (p.Phe1778_Leu1779insTer)
|
rs1555533566
|
|
NM_001042492.3(NF1):c.5335_5364dup (p.Ile1788_Glu1789insLeuAsnAspIleTyrTyrAlaSerGluIle)
|
|
|
NM_001042492.3(NF1):c.5336T>G (p.Leu1779Arg)
|
rs2151541015
|
|
NM_001042492.3(NF1):c.5336_5337insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGCAATCAGTCTTTCT (p.Leu1779_Asn1780insPhePhePhePhePhePheXaaXaaXaaXaaLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
|
|
|
NM_001042492.3(NF1):c.5337A>G (p.Leu1779=)
|
rs2151541018
|
|
NM_001042492.3(NF1):c.5339A>G (p.Asn1780Ser)
|
rs1411525800
|
|
NM_001042492.3(NF1):c.5342del (p.Asp1781fs)
|
|
|
NM_001042492.3(NF1):c.5343C>T (p.Asp1781=)
|
|
|
NM_001042492.3(NF1):c.5347_5350del (p.Tyr1783fs)
|
|
|
NM_001042492.3(NF1):c.5347del (p.Tyr1783fs)
|
rs1567612415
|
|
NM_001042492.3(NF1):c.5348A>G (p.Tyr1783Cys)
|
rs1597831963
|
|
NM_001042492.3(NF1):c.5349T>A (p.Tyr1783Ter)
|
|
|
NM_001042492.3(NF1):c.5349T>C (p.Tyr1783=)
|
|
|
NM_001042492.3(NF1):c.5349T>G (p.Tyr1783Ter)
|
rs2151541056
|
|
NM_001042492.3(NF1):c.5350T>A (p.Tyr1784Asn)
|
|
|
NM_001042492.3(NF1):c.5350T>G (p.Tyr1784Asp)
|
rs2151541060
|
|
NM_001042492.3(NF1):c.5351A>C (p.Tyr1784Ser)
|
rs1060500280
|
|
NM_001042492.3(NF1):c.5351A>G (p.Tyr1784Cys)
|
rs1060500280
|
|
NM_001042492.3(NF1):c.5351del (p.Tyr1784fs)
|
|
|
NM_001042492.3(NF1):c.5352T>A (p.Tyr1784Ter)
|
|
|
NM_001042492.3(NF1):c.5352T>C (p.Tyr1784=)
|
|
|
NM_001042492.3(NF1):c.5352T>G (p.Tyr1784Ter)
|
|
|
NM_001042492.3(NF1):c.5353G>T (p.Ala1785Ser)
|
rs199474782
|
|
NM_001042492.3(NF1):c.5355T>C (p.Ala1785=)
|
|
|
NM_001042492.3(NF1):c.5357C>A (p.Ser1786Ter)
|
rs1555533569
|
|
NM_001042492.3(NF1):c.5359G>T (p.Glu1787Ter)
|
rs2151541088
|
|
NM_001042492.3(NF1):c.5360A>C (p.Glu1787Ala)
|
rs1555533570
|
|
NM_001042492.3(NF1):c.5361A>C (p.Glu1787Asp)
|
rs2151541092
|
|
NM_001042492.3(NF1):c.5362A>G (p.Ile1788Val)
|
rs2069378035
|
|
NM_001042492.3(NF1):c.5363T>C (p.Ile1788Thr)
|
rs2069378120
|
|
NM_001042492.3(NF1):c.5365G>A (p.Glu1789Lys)
|
|
|
NM_001042492.3(NF1):c.5365G>C (p.Glu1789Gln)
|
rs1555533571
|
|
NM_001042492.3(NF1):c.5365G>T (p.Glu1789Ter)
|
|
|
NM_001042492.3(NF1):c.5367A>G (p.Glu1789=)
|
|
|
NM_001042492.3(NF1):c.5368G>T (p.Glu1790Ter)
|
rs1597831990
|
|
NM_001042492.3(NF1):c.5371A>G (p.Ile1791Val)
|
|
|
NM_001042492.3(NF1):c.5371A>T (p.Ile1791Phe)
|
rs2151541120
|
|
NM_001042492.3(NF1):c.5373C>G (p.Ile1791Met)
|
rs1597831996
|
|
NM_001042492.3(NF1):c.5373C>T (p.Ile1791=)
|
rs1597831996
|
|
NM_001042492.3(NF1):c.5374del (p.Cys1792fs)
|
rs2069378463
|
|
NM_001042492.3(NF1):c.5375G>C (p.Cys1792Ser)
|
|
|
NM_001042492.3(NF1):c.5375G>T (p.Cys1792Phe)
|
rs1263046457
|
|
NM_001042492.3(NF1):c.5376C>A (p.Cys1792Ter)
|
rs1597832002
|
|
NM_001042492.3(NF1):c.5376C>T (p.Cys1792=)
|
|
|
NM_001042492.3(NF1):c.5376_5379dup (p.Val1794fs)
|
rs1567612435
|
|
NM_001042492.3(NF1):c.5377C>A (p.Leu1793Ile)
|
rs761676110
|
|
NM_001042492.3(NF1):c.5377C>T (p.Leu1793=)
|
rs761676110
|
|
NM_001042492.3(NF1):c.5378T>C (p.Leu1793Pro)
|
|
|
NM_001042492.3(NF1):c.5378_5426dup (p.Pro1809_Leu1810insSerArgTer)
|
rs2151541145
|
|
NM_001042492.3(NF1):c.5378dup (p.Val1794fs)
|
|
|
NM_001042492.3(NF1):c.5379A>G (p.Leu1793=)
|
rs2151541156
|
|
NM_001042492.3(NF1):c.5379_5380dup (p.Val1794fs)
|
rs1597832021
|
|
NM_001042492.3(NF1):c.537G>A (p.Leu179=)
|
rs1555607095
|
|
NM_001042492.3(NF1):c.5380G>A (p.Val1794Ile)
|
rs1555533574
|
|
NM_001042492.3(NF1):c.5381T>G (p.Val1794Gly)
|
|
|
NM_001042492.3(NF1):c.5384A>G (p.Asp1795Gly)
|
rs1567612446
|
|
NM_001042492.3(NF1):c.5384_5410del (p.Asp1795_Ile1803del)
|
rs2069378982
|
|
NM_001042492.3(NF1):c.5385T>A (p.Asp1795Glu)
|
rs1135402870
|
|
NM_001042492.3(NF1):c.5386G>T (p.Glu1796Ter)
|
|
|
NM_001042492.3(NF1):c.5387del (p.Glu1796fs)
|
rs2069379168
|
|
NM_001042492.3(NF1):c.5388G>A (p.Glu1796=)
|
rs2069379264
|
|
NM_001042492.3(NF1):c.5389A>G (p.Asn1797Asp)
|
|
|
NM_001042492.3(NF1):c.5389_5390dup (p.Asn1797fs)
|
|
|
NM_001042492.3(NF1):c.538_541del (p.Leu180fs)
|
rs1135402789
|
|
NM_001042492.3(NF1):c.5390del (p.Asn1797fs)
|
rs2151541194
|
|
NM_001042492.3(NF1):c.5391_5393dup (p.Asn1797_Gln1798insHis)
|
|
|
NM_001042492.3(NF1):c.5392C>T (p.Gln1798Ter)
|
rs1597832043
|
|
NM_001042492.3(NF1):c.5394G>A (p.Gln1798=)
|
|
|
NM_001042492.3(NF1):c.5396_5402del (p.Gln1798_Phe1799insTer)
|
|
|
NM_001042492.3(NF1):c.5397C>T (p.Phe1799=)
|
rs878853901
|
|
NM_001042492.3(NF1):c.5398A>C (p.Thr1800Pro)
|
rs2151541217
|
|
NM_001042492.3(NF1):c.539T>A (p.Leu180Ter)
|
rs2143707605
|
|
NM_001042492.3(NF1):c.539del (p.Leu180fs)
|
|
|
NM_001042492.3(NF1):c.539dup (p.Leu180fs)
|
|
|
NM_001042492.3(NF1):c.5400C>G (p.Thr1800=)
|
rs1597832051
|
|
NM_001042492.3(NF1):c.5401T>C (p.Leu1801=)
|
|
|
NM_001042492.3(NF1):c.5402T>G (p.Leu1801Ter)
|
rs2151541233
|
|
NM_001042492.3(NF1):c.5402dup (p.Leu1801fs)
|
|
|
NM_001042492.3(NF1):c.5404del (p.Thr1802fs)
|
rs1597832056
|
|
NM_001042492.3(NF1):c.5406C>A (p.Thr1802=)
|
rs895918165
|
|
NM_001042492.3(NF1):c.5406C>G (p.Thr1802=)
|
|
|
NM_001042492.3(NF1):c.5406C>T (p.Thr1802=)
|
|
|
NM_001042492.3(NF1):c.5407A>C (p.Ile1803Leu)
|
|
|
NM_001042492.3(NF1):c.5408T>C (p.Ile1803Thr)
|
|
|
NM_001042492.3(NF1):c.5409T>G (p.Ile1803Met)
|
rs2069379800
|
|
NM_001042492.3(NF1):c.540A>C (p.Leu180Phe)
|
rs1597643865
|
|
NM_001042492.3(NF1):c.540A>G (p.Leu180=)
|
rs1597643865
|
|
NM_001042492.3(NF1):c.540dup (p.Gln181fs)
|
rs2065904037
|
|
NM_001042492.3(NF1):c.5410G>A (p.Ala1804Thr)
|
rs2151541269
|
|
NM_001042492.3(NF1):c.5410delinsTT (p.Ala1804fs)
|
|
|
NM_001042492.3(NF1):c.5411C>G (p.Ala1804Gly)
|
|
|
NM_001042492.3(NF1):c.5413A>G (p.Asn1805Asp)
|
rs1287561681
|
|
NM_001042492.3(NF1):c.5416C>T (p.Gln1806Ter)
|
rs2151541286
|
|
NM_001042492.3(NF1):c.5416dup (p.Gln1806fs)
|
|
|
NM_001042492.3(NF1):c.5417del (p.Gln1806fs)
|
|
|
NM_001042492.3(NF1):c.5418G>A (p.Gln1806=)
|
rs2151541293
|
|
NM_001042492.3(NF1):c.5419G>A (p.Gly1807Ser)
|
rs1443729188
|
|
NM_001042492.3(NF1):c.541C>T (p.Gln181Ter)
|
rs753529924
|
|
NM_001042492.3(NF1):c.541_542del (p.Gln181fs)
|
rs1135402790
|
|
NM_001042492.3(NF1):c.541del (p.Gln181fs)
|
|
|
NM_001042492.3(NF1):c.5421C>T (p.Gly1807=)
|
rs1060500279
|
|
NM_001042492.3(NF1):c.5422A>G (p.Thr1808Ala)
|
|
|
NM_001042492.3(NF1):c.5424G>T (p.Thr1808=)
|
|
|
NM_001042492.3(NF1):c.5427G>A (p.Pro1809=)
|
rs1281695642
|
|
NM_001042492.3(NF1):c.5427dup (p.Leu1810fs)
|
rs1567612483
|
|
NM_001042492.3(NF1):c.5428C>T (p.Leu1810Phe)
|
|
|
NM_001042492.3(NF1):c.5429T>C (p.Leu1810Pro)
|
|
|
NM_001042492.3(NF1):c.542A>G (p.Gln181Arg)
|
rs2065904138
|
|
NM_001042492.3(NF1):c.5430C>A (p.Leu1810=)
|
rs2151541330
|
|
NM_001042492.3(NF1):c.5430C>T (p.Leu1810=)
|
rs2151541330
|
|
NM_001042492.3(NF1):c.5431_5449del (p.Thr1811fs)
|
rs1567612488
|
|
NM_001042492.3(NF1):c.5432C>T (p.Thr1811Ile)
|
rs2151541340
|
|
NM_001042492.3(NF1):c.5434T>C (p.Phe1812Leu)
|
rs2069380487
|
|
NM_001042492.3(NF1):c.5435_5469dup (p.Ile1824fs)
|
|
|
NM_001042492.3(NF1):c.5437A>G (p.Met1813Val)
|
|
|
NM_001042492.3(NF1):c.5439G>C (p.Met1813Ile)
|
|
|
NM_001042492.3(NF1):c.5439G>T (p.Met1813Ile)
|
|
|
NM_001042492.3(NF1):c.543G>A (p.Gln181=)
|
rs2143707678
|
|
NM_001042492.3(NF1):c.5440C>T (p.His1814Tyr)
|
rs1036523228
|
|
NM_001042492.3(NF1):c.5442C>G (p.His1814Gln)
|
rs991848606
|
|
NM_001042492.3(NF1):c.5442C>T (p.His1814=)
|
rs991848606
|
|
NM_001042492.3(NF1):c.5443C>G (p.Gln1815Glu)
|
rs1555533587
|
|
NM_001042492.3(NF1):c.5443C>T (p.Gln1815Ter)
|
rs1555533587
|
|
NM_001042492.3(NF1):c.5444A>G (p.Gln1815Arg)
|
|
|
NM_001042492.3(NF1):c.5445G>A (p.Gln1815=)
|
rs2151541382
|
|
NM_001042492.3(NF1):c.5446G>T (p.Glu1816Ter)
|
rs2069380852
|
|
NM_001042492.3(NF1):c.5447A>G (p.Glu1816Gly)
|
|
|
NM_001042492.3(NF1):c.5447del (p.Glu1816fs)
|
|
|
NM_001042492.3(NF1):c.5450G>A (p.Cys1817Tyr)
|
rs1555533589
|
|
NM_001042492.3(NF1):c.5452G>T (p.Glu1818Ter)
|
rs2151541394
|
|
NM_001042492.3(NF1):c.5456C>T (p.Ala1819Val)
|
rs1555533590
|
|
NM_001042492.3(NF1):c.5457C>T (p.Ala1819=)
|
rs2069381058
|
|
NM_001042492.3(NF1):c.5458A>G (p.Ile1820Val)
|
rs786202459
|
|
NM_001042492.3(NF1):c.5458_5461del (p.Ile1820fs)
|
|
|
NM_001042492.3(NF1):c.5459T>C (p.Ile1820Thr)
|
rs1597832129
|
|
NM_001042492.3(NF1):c.545A>G (p.Tyr182Cys)
|
rs2143707725
|
|
NM_001042492.3(NF1):c.545A>T (p.Tyr182Phe)
|
|
|
NM_001042492.3(NF1):c.5460dup (p.Val1821fs)
|
rs2151541422
|
|
NM_001042492.3(NF1):c.5461G>C (p.Val1821Leu)
|
rs1597832135
|
|
NM_001042492.3(NF1):c.5461del (p.Val1821fs)
|
rs1567612531
|
|
NM_001042492.3(NF1):c.5462T>C (p.Val1821Ala)
|
rs2151541436
|
|
NM_001042492.3(NF1):c.5462T>G (p.Val1821Gly)
|
|
|
NM_001042492.3(NF1):c.5463C>A (p.Val1821=)
|
|
|
NM_001042492.3(NF1):c.5463C>G (p.Val1821=)
|
|
|
NM_001042492.3(NF1):c.5464C>T (p.Gln1822Ter)
|
rs2069381323
|
|
NM_001042492.3(NF1):c.5465A>C (p.Gln1822Pro)
|
rs1060500328
|
|
NM_001042492.3(NF1):c.5465A>G (p.Gln1822Arg)
|
|
|
NM_001042492.3(NF1):c.5467T>C (p.Ser1823Pro)
|
rs1555533592
|
|
NM_001042492.3(NF1):c.5468C>A (p.Ser1823Tyr)
|
|
|
NM_001042492.3(NF1):c.5469_5470insTT (p.Ile1824fs)
|
rs267606605
|
|
NM_001042492.3(NF1):c.5469dup (p.Ile1824fs)
|
rs267606605
|
|
NM_001042492.3(NF1):c.546T>G (p.Tyr182Ter)
|
|
|
NM_001042492.3(NF1):c.546dup (p.Ile183fs)
|
rs2143707749
|
|
NM_001042492.3(NF1):c.5470_5474del (p.Ile1824fs)
|
|
|
NM_001042492.3(NF1):c.5471T>G (p.Ile1824Ser)
|
|
|
NM_001042492.3(NF1):c.5472C>A (p.Ile1824=)
|
rs758784558
|
|
NM_001042492.3(NF1):c.5472C>T (p.Ile1824=)
|
|
|
NM_001042492.3(NF1):c.5473A>G (p.Ile1825Val)
|
rs2069381682
|
|
NM_001042492.3(NF1):c.5473_5474del (p.Ile1825fs)
|
|
|
NM_001042492.3(NF1):c.5473_5506del (p.Ile1825fs)
|
rs2151541479
|
|
NM_001042492.3(NF1):c.5475_5478del (p.His1826fs)
|
rs2151541475
|
|
NM_001042492.3(NF1):c.5476C>G (p.His1826Asp)
|
rs1135402871
|
|
NM_001042492.3(NF1):c.5476C>T (p.His1826Tyr)
|
|
|
NM_001042492.3(NF1):c.5477A>G (p.His1826Arg)
|
rs878853902
|
|
NM_001042492.3(NF1):c.5477del (p.His1826fs)
|
|
|
NM_001042492.3(NF1):c.5479A>G (p.Ile1827Val)
|
rs1299780528
|
|
NM_001042492.3(NF1):c.547_548dup (p.Asn184fs)
|
|
|
NM_001042492.3(NF1):c.5480T>C (p.Ile1827Thr)
|
rs1555533605
|
|
NM_001042492.3(NF1):c.5480T>G (p.Ile1827Ser)
|
|
|
NM_001042492.3(NF1):c.5481C>G (p.Ile1827Met)
|
rs1555533607
|
|
NM_001042492.3(NF1):c.5481C>T (p.Ile1827=)
|
rs1555533607
|
|
NM_001042492.3(NF1):c.5482C>G (p.Arg1828Gly)
|
rs1555533609
|
|
NM_001042492.3(NF1):c.5482C>T (p.Arg1828Trp)
|
rs1555533609
|
|
NM_001042492.3(NF1):c.5482_5488del (p.Arg1828fs)
|
|
|
NM_001042492.3(NF1):c.5483G>A (p.Arg1828Gln)
|
rs876660298
|
|
NM_001042492.3(NF1):c.5483G>C (p.Arg1828Pro)
|
|
|
NM_001042492.3(NF1):c.5484G>A (p.Arg1828=)
|
rs2151541517
|
|
NM_001042492.3(NF1):c.5484G>T (p.Arg1828=)
|
|
|
NM_001042492.3(NF1):c.5484del (p.Thr1829fs)
|
|
|
NM_001042492.3(NF1):c.5484dup (p.Thr1829fs)
|
|
|
NM_001042492.3(NF1):c.5485del (p.Thr1829fs)
|
rs2151541526
|
|
NM_001042492.3(NF1):c.5487C>T (p.Thr1829=)
|
|
|
NM_001042492.3(NF1):c.5488C>A (p.Arg1830Ser)
|
rs797045139
|
|
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>C (p.Arg1830Pro)
|
rs771529172
|
|
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu)
|
rs771529172
|
|
NM_001042492.3(NF1):c.548T>A (p.Ile183Asn)
|
rs2143707759
|
|
NM_001042492.3(NF1):c.5490C>A (p.Arg1830=)
|
|
|
NM_001042492.3(NF1):c.5491T>C (p.Trp1831Arg)
|
rs2069382435
|
|
NM_001042492.3(NF1):c.5491T>G (p.Trp1831Gly)
|
rs2069382435
|
|
NM_001042492.3(NF1):c.5491dup (p.Trp1831fs)
|
|
|
NM_001042492.3(NF1):c.5492G>A (p.Trp1831Ter)
|
rs1135402872
|
|
NM_001042492.3(NF1):c.5493G>A (p.Trp1831Ter)
|
rs2069382585
|
|
NM_001042492.3(NF1):c.5493G>C (p.Trp1831Cys)
|
|
|
NM_001042492.3(NF1):c.5494G>A (p.Glu1832Lys)
|
rs2069382639
|
|
NM_001042492.3(NF1):c.5494G>C (p.Glu1832Gln)
|
|
|
NM_001042492.3(NF1):c.5494G>T (p.Glu1832Ter)
|
rs2069382639
|
|
NM_001042492.3(NF1):c.5494del (p.Glu1832fs)
|
rs1597832223
|
|
NM_001042492.3(NF1):c.5496A>G (p.Glu1832=)
|
rs1555533613
|
|
NM_001042492.3(NF1):c.5496del (p.Glu1832fs)
|
rs2151541558
|
|
NM_001042492.3(NF1):c.5497_5498del (p.Leu1833fs)
|
rs2151541563
|
|
NM_001042492.3(NF1):c.5498T>C (p.Leu1833Pro)
|
rs2151541565
|
|
NM_001042492.3(NF1):c.549C>G (p.Ile183Met)
|
rs1597643884
|
|
NM_001042492.3(NF1):c.5500T>C (p.Ser1834Pro)
|
|
|
NM_001042492.3(NF1):c.5501C>G (p.Ser1834Ter)
|
rs1597832235
|
|
NM_001042492.3(NF1):c.5502del (p.Gln1835fs)
|
|
|
NM_001042492.3(NF1):c.5503C>T (p.Gln1835Ter)
|
rs786202177
|
|
NM_001042492.3(NF1):c.5505G>A (p.Gln1835=)
|
rs1555533615
|
|
NM_001042492.3(NF1):c.5505G>T (p.Gln1835His)
|
rs1555533615
|
|
NM_001042492.3(NF1):c.5508del (p.Asp1837fs)
|
|
|
NM_001042492.3(NF1):c.5509G>C (p.Asp1837His)
|
rs771597781
|
|
NM_001042492.3(NF1):c.550A>G (p.Asn184Asp)
|
|
|
NM_001042492.3(NF1):c.5511dup (p.Ser1838fs)
|
rs267606596
|
|
NM_001042492.3(NF1):c.5512T>C (p.Ser1838Pro)
|
rs1555533619
|
|
NM_001042492.3(NF1):c.5513_5514del (p.Ser1838fs)
|
|
|
NM_001042492.3(NF1):c.5514T>C (p.Ser1838=)
|
|
|
NM_001042492.3(NF1):c.5514_5517del (p.Ile1839fs)
|
rs1555533621
|
|
NM_001042492.3(NF1):c.5514dup (p.Ile1839fs)
|
|
|
NM_001042492.3(NF1):c.5515A>C (p.Ile1839Leu)
|
|
|
NM_001042492.3(NF1):c.5515_5516del (p.Ile1839fs)
|
rs2151541621
|
|
NM_001042492.3(NF1):c.5516del (p.Ile1839fs)
|
rs1597832304
|
|
NM_001042492.3(NF1):c.5517C>A (p.Ile1839=)
|
rs865839207
|
|
NM_001042492.3(NF1):c.5517C>T (p.Ile1839=)
|
rs865839207
|
|
NM_001042492.3(NF1):c.5518C>A (p.Pro1840Thr)
|
|
|
NM_001042492.3(NF1):c.5519C>G (p.Pro1840Arg)
|
|
|
NM_001042492.3(NF1):c.551del (p.Asn184fs)
|
rs1555607102
|
|
NM_001042492.3(NF1):c.5520_5521del (p.Gln1841fs)
|
|
|
NM_001042492.3(NF1):c.5521C>T (p.Gln1841Ter)
|
rs786203570
|
|
NM_001042492.3(NF1):c.5521del (p.Gln1841fs)
|
rs2069383586
|
|
NM_001042492.3(NF1):c.5521dup (p.Gln1841fs)
|
rs2069383586
|
|
NM_001042492.3(NF1):c.5522A>G (p.Gln1841Arg)
|
|
|
NM_001042492.3(NF1):c.5523A>T (p.Gln1841His)
|
rs151046636
|
|
NM_001042492.3(NF1):c.5523dup (p.His1842fs)
|
|
|
NM_001042492.3(NF1):c.5524C>A (p.His1842Asn)
|
|
|
NM_001042492.3(NF1):c.5526C>T (p.His1842=)
|
rs2151541659
|
|
NM_001042492.3(NF1):c.5528C>A (p.Thr1843Asn)
|
|
|
NM_001042492.3(NF1):c.5528C>T (p.Thr1843Ile)
|
rs1567612632
|
|
NM_001042492.3(NF1):c.5528_5529insT (p.Lys1844fs)
|
rs267606597
|
|
NM_001042492.3(NF1):c.5529C>T (p.Thr1843=)
|
|
|
NM_001042492.3(NF1):c.5529del (p.Lys1844fs)
|
|
|
NM_001042492.3(NF1):c.5529dup (p.Lys1844fs)
|
rs1555533628
|
|
NM_001042492.3(NF1):c.5530A>G (p.Lys1844Glu)
|
|
|
NM_001042492.3(NF1):c.5531A>G (p.Lys1844Arg)
|
rs2069383981
|
|
NM_001042492.3(NF1):c.5532G>T (p.Lys1844Asn)
|
rs2151541680
|
|
NM_001042492.3(NF1):c.5532_5542del (p.Ile1845fs)
|
|
|
NM_001042492.3(NF1):c.5533A>T (p.Ile1845Phe)
|
rs1567612641
|
|
NM_001042492.3(NF1):c.5533dup (p.Ile1845fs)
|
rs1597832360
|
|
NM_001042492.3(NF1):c.5534T>C (p.Ile1845Thr)
|
rs1060500339
|
|
NM_001042492.3(NF1):c.5534T>G (p.Ile1845Ser)
|
rs1060500339
|
|
NM_001042492.3(NF1):c.5535T>G (p.Ile1845Met)
|
|
|
NM_001042492.3(NF1):c.5535del (p.Arg1846fs)
|
rs1567612647
|
|
NM_001042492.3(NF1):c.5536C>G (p.Arg1846Gly)
|
rs769843989
|
|
NM_001042492.3(NF1):c.5537G>A (p.Arg1846Gln)
|
rs2069384348
|
|
NM_001042492.3(NF1):c.5537G>T (p.Arg1846Leu)
|
|
|
NM_001042492.3(NF1):c.5538G>A (p.Arg1846=)
|
rs2151541698
|
|
NM_001042492.3(NF1):c.5539C>A (p.Pro1847Thr)
|
rs2069384394
|
|
NM_001042492.3(NF1):c.5539C>G (p.Pro1847Ala)
|
rs2069384394
|
|
NM_001042492.3(NF1):c.5539C>T (p.Pro1847Ser)
|
rs2069384394
|
|
NM_001042492.3(NF1):c.553G>A (p.Val185Met)
|
|
|
NM_001042492.3(NF1):c.553G>T (p.Val185Leu)
|
|
|
NM_001042492.3(NF1):c.5540C>T (p.Pro1847Leu)
|
rs1555533631
|
|
NM_001042492.3(NF1):c.5541A>C (p.Pro1847=)
|
|
|
NM_001042492.3(NF1):c.5541A>G (p.Pro1847=)
|
rs775779014
|
|
NM_001042492.3(NF1):c.5542A>T (p.Lys1848Ter)
|
|
|
NM_001042492.3(NF1):c.5545G>C (p.Asp1849His)
|
|
|
NM_001042492.3(NF1):c.5545G>T (p.Asp1849Tyr)
|
|
|
NM_001042492.3(NF1):c.5546A>G (p.Asp1849Gly)
|
|
|
NM_001042492.3(NF1):c.5546A>T (p.Asp1849Val)
|
rs1170679293
|
|
NM_001042492.3(NF1):c.5546_5553del (p.Asp1849fs)
|
rs1135402873
|
|
NM_001042492.3(NF1):c.5548G>A (p.Val1850Ile)
|
rs1597832397
|
|
NM_001042492.3(NF1):c.5548G>T (p.Val1850Phe)
|
rs1597832397
|
|
NM_001042492.3(NF1):c.5548_5549del (p.Val1850fs)
|
rs1555533636
|
|
NM_001042492.3(NF1):c.5549T>A (p.Val1850Asp)
|
rs1555533637
|
|
NM_001042492.3(NF1):c.5549T>C (p.Val1850Ala)
|
rs1555533637
|
|
NM_001042492.3(NF1):c.5549T>G (p.Val1850Gly)
|
rs1555533637
|
|
NM_001042492.3(NF1):c.5549_5554del (p.Val1850_Pro1851del)
|
|
|
NM_001042492.3(NF1):c.5550C>T (p.Val1850=)
|
rs876658124
|
|
NM_001042492.3(NF1):c.5551C>T (p.Pro1851Ser)
|
rs267604793
|
|
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.5552del (p.Pro1851fs)
|
|
|
NM_001042492.3(NF1):c.5553T>A (p.Pro1851=)
|
|
|
NM_001042492.3(NF1):c.5554G>A (p.Gly1852Arg)
|
rs1436590774
|
|
NM_001042492.3(NF1):c.5556G>A (p.Gly1852=)
|
rs763146785
|
|
NM_001042492.3(NF1):c.5558C>G (p.Thr1853Arg)
|
rs2069385223
|
|
NM_001042492.3(NF1):c.5559A>G (p.Thr1853=)
|
|
|
NM_001042492.3(NF1):c.5559_5560dup (p.Leu1854fs)
|
|
|
NM_001042492.3(NF1):c.555G>A (p.Val185=)
|
rs2143707858
|
|
NM_001042492.3(NF1):c.5560_5562delinsT (p.Leu1854fs)
|
rs1555533641
|
|
NM_001042492.3(NF1):c.5561T>A (p.Leu1854Gln)
|
rs878853903
|
|
NM_001042492.3(NF1):c.5561T>C (p.Leu1854Pro)
|
rs878853903
|
|
NM_001042492.3(NF1):c.5561T>G (p.Leu1854Arg)
|
rs878853903
|
|
NM_001042492.3(NF1):c.5561del (p.Leu1854fs)
|
rs1555533644
|
|
NM_001042492.3(NF1):c.5563C>T (p.Leu1855Phe)
|
rs2069385474
|
|
NM_001042492.3(NF1):c.5564T>A (p.Leu1855His)
|
rs2069385520
|
|
NM_001042492.3(NF1):c.5564T>C (p.Leu1855Pro)
|
rs2069385520
|
|
NM_001042492.3(NF1):c.5564T>G (p.Leu1855Arg)
|
rs2069385520
|
|
NM_001042492.3(NF1):c.5565C>T (p.Leu1855=)
|
|
|
NM_001042492.3(NF1):c.5566A>G (p.Asn1856Asp)
|
|
|
NM_001042492.3(NF1):c.5569A>G (p.Ile1857Val)
|
|
|
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr)
|
rs1567820765
|
|
NM_001042492.3(NF1):c.5571C>A (p.Ile1857=)
|
rs771837192
|
|
NM_001042492.3(NF1):c.5571C>G (p.Ile1857Met)
|
rs771837192
|
|
NM_001042492.3(NF1):c.5571_5572delinsT (p.Ala1858fs)
|
rs1135402875
|
|
NM_001042492.3(NF1):c.5571del (p.Ile1857fs)
|
rs1135402874
|
|
NM_001042492.3(NF1):c.5572G>A (p.Ala1858Thr)
|
rs786203416
|
|
NM_001042492.3(NF1):c.5572G>T (p.Ala1858Ser)
|
rs786203416
|
|
NM_001042492.3(NF1):c.5576T>G (p.Leu1859Ter)
|
rs2151541835
|
|
NM_001042492.3(NF1):c.5578C>A (p.Leu1860Ile)
|
rs746689492
|
|
NM_001042492.3(NF1):c.5578C>T (p.Leu1860Phe)
|
|
|
NM_001042492.3(NF1):c.5578del (p.Asn1861fs)
|
|
|
NM_001042492.3(NF1):c.557A>T (p.Asp186Val)
|
rs1567820771
|
|
NM_001042492.3(NF1):c.5582A>T (p.Asn1861Ile)
|
rs1555533647
|
|
NM_001042492.3(NF1):c.5582dup (p.Asn1861fs)
|
rs2069385970
|
|
NM_001042492.3(NF1):c.5583T>G (p.Asn1861Lys)
|
rs2151541871
|
|
NM_001042492.3(NF1):c.5584T>C (p.Leu1862=)
|
|
|
NM_001042492.3(NF1):c.5585T>A (p.Leu1862Ter)
|
rs2151541881
|
|
NM_001042492.3(NF1):c.5585T>G (p.Leu1862Ter)
|
rs2151541881
|
|
NM_001042492.3(NF1):c.5586del (p.Gly1863fs)
|
rs1555533648
|
|
NM_001042492.3(NF1):c.5587G>A (p.Gly1863Ser)
|
rs1060500332
|
|
NM_001042492.3(NF1):c.5588G>A (p.Gly1863Asp)
|
rs1597832460
|
|
NM_001042492.3(NF1):c.5590A>T (p.Ser1864Cys)
|
rs2151541898
|
|
NM_001042492.3(NF1):c.5591G>A (p.Ser1864Asn)
|
rs1567612716
|
|
NM_001042492.3(NF1):c.5591G>T (p.Ser1864Ile)
|
|
|
NM_001042492.3(NF1):c.5594C>G (p.Ser1865Cys)
|
|
|
NM_001042492.3(NF1):c.5597del (p.Asp1866fs)
|
rs2151541931
|
|
NM_001042492.3(NF1):c.559T>A (p.Cys187Ser)
|
|
|
NM_001042492.3(NF1):c.5600C>T (p.Pro1867Leu)
|
|
|
NM_001042492.3(NF1):c.5601G>A (p.Pro1867=)
|
rs766322878
|
|
NM_001042492.3(NF1):c.5601G>T (p.Pro1867=)
|
rs766322878
|
|
NM_001042492.3(NF1):c.5605T>A (p.Leu1869Ile)
|
|
|
NM_001042492.3(NF1):c.5606T>A (p.Leu1869Ter)
|
|
|
NM_001042492.3(NF1):c.5606T>G (p.Leu1869Ter)
|
rs1597832482
|
|
NM_001042492.3(NF1):c.5606del (p.Leu1869fs)
|
|
|
NM_001042492.3(NF1):c.5606dup (p.Leu1869fs)
|
rs2069386536
|
|
NM_001042492.3(NF1):c.5608C>A (p.Arg1870=)
|
rs1049849034
|
|
NM_001042492.3(NF1):c.5608C>G (p.Arg1870Gly)
|
|
|
NM_001042492.3(NF1):c.5608C>T (p.Arg1870Trp)
|
|
|
NM_001042492.3(NF1):c.5609+11del
|
|
|
NM_001042492.3(NF1):c.5609+12A>T
|
|
|
NM_001042492.3(NF1):c.5609+18C>G
|
|
|
NM_001042492.3(NF1):c.5609+19_5609+23del
|
rs1010067969
|
|
NM_001042492.3(NF1):c.5609+1G>A
|
rs1131691117
|
|
NM_001042492.3(NF1):c.5609+1G>C
|
rs1131691117
|
|
NM_001042492.3(NF1):c.5609+1G>T
|
rs1131691117
|
|
NM_001042492.3(NF1):c.5609+20C>T
|
rs2151542052
|
|
NM_001042492.3(NF1):c.5609+2T>C
|
|
|
NM_001042492.3(NF1):c.5609+2T>G
|
rs2069386858
|
|
NM_001042492.3(NF1):c.5609+336_6006+244del
|
|
|
NM_001042492.3(NF1):c.5609+3A>G
|
rs2151541987
|
|
NM_001042492.3(NF1):c.5609+3A>T
|
rs2151541987
|
|
NM_001042492.3(NF1):c.5609+4G>A
|
|
|
NM_001042492.3(NF1):c.5609+4G>C
|
rs2069386889
|
|
NM_001042492.3(NF1):c.5609+5G>A
|
rs1597832498
|
|
NM_001042492.3(NF1):c.5609+5G>C
|
rs1597832498
|
|
NM_001042492.3(NF1):c.5609+5G>T
|
rs1597832498
|
|
NM_001042492.3(NF1):c.5609+8T>A
|
rs753289678
|
|
NM_001042492.3(NF1):c.5609+8T>C
|
rs753289678
|
|
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln)
|
rs786202112
|
|
NM_001042492.3(NF1):c.5609G>C (p.Arg1870Pro)
|
|
|
NM_001042492.3(NF1):c.5609G>T (p.Arg1870Leu)
|
rs786202112
|
|
NM_001042492.3(NF1):c.5609_5609+1delinsAA
|
rs2069386760
|
|
NM_001042492.3(NF1):c.560del (p.Cys187fs)
|
rs1555607107
|
|
NM_001042492.3(NF1):c.5610-10T>G
|
|
|
NM_001042492.3(NF1):c.5610-13T>G
|
|
|
NM_001042492.3(NF1):c.5610-15T>G
|
|
|
NM_001042492.3(NF1):c.5610-16T>C
|
|
|
NM_001042492.3(NF1):c.5610-17T>G
|
|
|
NM_001042492.3(NF1):c.5610-18A>C
|
|
|
NM_001042492.3(NF1):c.5610-19_5610-15del
|
rs770770675
|
|
NM_001042492.3(NF1):c.5610-1G>C
|
rs1567613569
|
|
NM_001042492.3(NF1):c.5610-2A>G
|
rs1135402876
|
|
NM_001042492.3(NF1):c.5610-2A>T
|
rs1135402876
|
|
NM_001042492.3(NF1):c.5610-3T>C
|
rs2069447812
|
|
NM_001042492.3(NF1):c.5610-5C>G
|
rs2151544379
|
|
NM_001042492.3(NF1):c.5610-5C>T
|
rs2151544379
|
|
NM_001042492.3(NF1):c.5612C>A (p.Ser1871Ter)
|
|
|
NM_001042492.3(NF1):c.5612C>G (p.Ser1871Ter)
|
|
|
NM_001042492.3(NF1):c.5613A>G (p.Ser1871=)
|
|
|
NM_001042492.3(NF1):c.5615C>T (p.Ala1872Val)
|
|
|
NM_001042492.3(NF1):c.5619C>G (p.Ala1873=)
|
rs786203335
|
|
NM_001042492.3(NF1):c.5619del (p.Tyr1874fs)
|
rs1555533842
|
|
NM_001042492.3(NF1):c.5622T>C (p.Tyr1874=)
|
|
|
NM_001042492.3(NF1):c.5622_5623dup (p.Asn1875fs)
|
|
|
NM_001042492.3(NF1):c.5622dup (p.Asn1875Ter)
|
|
|
NM_001042492.3(NF1):c.5624A>G (p.Asn1875Ser)
|
rs1555533843
|
|
NM_001042492.3(NF1):c.5625T>A (p.Asn1875Lys)
|
rs1275173622
|
|
NM_001042492.3(NF1):c.5625T>C (p.Asn1875=)
|
rs1275173622
|
|
NM_001042492.3(NF1):c.5625TCT[1] (p.Leu1877del)
|
rs1131691081
|
|
NM_001042492.3(NF1):c.5627T>C (p.Leu1876Pro)
|
|
|
NM_001042492.3(NF1):c.5628T>C (p.Leu1876=)
|
|
|
NM_001042492.3(NF1):c.5628del (p.Leu1877fs)
|
|
|
NM_001042492.3(NF1):c.5629C>A (p.Leu1877Met)
|
|
|
NM_001042492.3(NF1):c.5629C>T (p.Leu1877=)
|
|
|
NM_001042492.3(NF1):c.5629_5630del (p.Leu1877fs)
|
rs2069448326
|
|
NM_001042492.3(NF1):c.5629del (p.Leu1877fs)
|
rs2151544432
|
|
NM_001042492.3(NF1):c.5629dup (p.Leu1877fs)
|
rs2069448374
|
|
NM_001042492.3(NF1):c.562G>A (p.Ala188Thr)
|
rs778975931
|
|
NM_001042492.3(NF1):c.5630T>C (p.Leu1877Pro)
|
|
|
NM_001042492.3(NF1):c.5630T>G (p.Leu1877Arg)
|
rs2069448419
|
|
NM_001042492.3(NF1):c.5630dup (p.Cys1878fs)
|
rs2069448473
|
|
NM_001042492.3(NF1):c.5631G>A (p.Leu1877=)
|
rs1555533844
|
|
NM_001042492.3(NF1):c.5631G>T (p.Leu1877=)
|
rs1555533844
|
|
NM_001042492.3(NF1):c.5634_5635del (p.Ala1879fs)
|
rs2069448538
|
|
NM_001042492.3(NF1):c.5636C>T (p.Ala1879Val)
|
rs1555533845
|
|
NM_001042492.3(NF1):c.5637C>T (p.Ala1879=)
|
rs2151544461
|
|
NM_001042492.3(NF1):c.5637del (p.Ala1879_Leu1880insTer)
|
rs1135402877
|
|
NM_001042492.3(NF1):c.5639T>A (p.Leu1880Ter)
|
|
|
NM_001042492.3(NF1):c.5639T>C (p.Leu1880Ser)
|
rs1567613595
|
|
NM_001042492.3(NF1):c.5639T>G (p.Leu1880Ter)
|
rs1567613595
|
|
NM_001042492.3(NF1):c.5639dup (p.Leu1880fs)
|
rs2069448879
|
|
NM_001042492.3(NF1):c.563C>A (p.Ala188Glu)
|
rs1060500309
|
|
NM_001042492.3(NF1):c.563C>T (p.Ala188Val)
|
rs1060500309
|
|
NM_001042492.3(NF1):c.5641A>C (p.Thr1881Pro)
|
|
|
NM_001042492.3(NF1):c.5641del (p.Thr1881fs)
|
|
|
NM_001042492.3(NF1):c.5642C>A (p.Thr1881Asn)
|
rs876658349
|
|
NM_001042492.3(NF1):c.5642C>T (p.Thr1881Ile)
|
rs876658349
|
|
NM_001042492.3(NF1):c.5645G>A (p.Cys1882Tyr)
|
rs1597834656
|
|
NM_001042492.3(NF1):c.5645_5646dup (p.Thr1883fs)
|
|
|
NM_001042492.3(NF1):c.5645dup (p.Cys1882fs)
|
rs1567613604
|
|
NM_001042492.3(NF1):c.5646T>G (p.Cys1882Trp)
|
rs1597834659
|
|
NM_001042492.3(NF1):c.5649C>A (p.Thr1883=)
|
|
|
NM_001042492.3(NF1):c.5650T>C (p.Phe1884Leu)
|
rs1060500378
|
|
NM_001042492.3(NF1):c.5651T>G (p.Phe1884Cys)
|
|
|
NM_001042492.3(NF1):c.5652T>C (p.Phe1884=)
|
rs1567613616
|
|
NM_001042492.3(NF1):c.5652T>G (p.Phe1884Leu)
|
rs1567613616
|
|
NM_001042492.3(NF1):c.5654A>G (p.Asn1885Ser)
|
|
|
NM_001042492.3(NF1):c.5654A>T (p.Asn1885Ile)
|
|
|
NM_001042492.3(NF1):c.5654del (p.Asn1885fs)
|
rs2151544511
|
|
NM_001042492.3(NF1):c.5654dup (p.Asn1885fs)
|
rs2151544511
|
|
NM_001042492.3(NF1):c.5655_5659del (p.Asn1885fs)
|
|
|
NM_001042492.3(NF1):c.5656_5678del (p.Leu1886fs)
|
rs2151544520
|
|
NM_001042492.3(NF1):c.5657T>A (p.Leu1886Ter)
|
rs1555533853
|
|
NM_001042492.3(NF1):c.5658A>G (p.Leu1886=)
|
rs1555533854
|
|
NM_001042492.3(NF1):c.5661A>G (p.Lys1887=)
|
rs149759456
|
|
NM_001042492.3(NF1):c.5662A>T (p.Ile1888Phe)
|
rs863224662
|
|
NM_001042492.3(NF1):c.5662del (p.Ile1888fs)
|
rs2069449497
|
|
NM_001042492.3(NF1):c.5663dup (p.Glu1889fs)
|
rs1555533856
|
|
NM_001042492.3(NF1):c.5665G>T (p.Glu1889Ter)
|
rs764782945
|
|
NM_001042492.3(NF1):c.5668G>C (p.Gly1890Arg)
|
rs1597834706
|
|
NM_001042492.3(NF1):c.5668G>T (p.Gly1890Cys)
|
rs1597834706
|
|
NM_001042492.3(NF1):c.5669G>A (p.Gly1890Asp)
|
|
|
NM_001042492.3(NF1):c.5669G>C (p.Gly1890Ala)
|
rs1567613630
|
|
NM_001042492.3(NF1):c.5669G>T (p.Gly1890Val)
|
rs1567613630
|
|
NM_001042492.3(NF1):c.5669_5690del (p.Gly1890fs)
|
rs1597834703
|
|
NM_001042492.3(NF1):c.5669del (p.Gly1890fs)
|
|
|
NM_001042492.3(NF1):c.5670C>T (p.Gly1890=)
|
|
|
NM_001042492.3(NF1):c.5671C>G (p.Gln1891Glu)
|
|
|
NM_001042492.3(NF1):c.5671C>T (p.Gln1891Ter)
|
rs878853904
|
|
NM_001042492.3(NF1):c.5672A>C (p.Gln1891Pro)
|
|
|
NM_001042492.3(NF1):c.5672_5673insAA (p.Leu1892fs)
|
rs1135402878
|
|
NM_001042492.3(NF1):c.5672dup (p.Leu1892fs)
|
rs1135402878
|
|
NM_001042492.3(NF1):c.5673G>A (p.Gln1891=)
|
rs1555533857
|
|
NM_001042492.3(NF1):c.5673G>T (p.Gln1891His)
|
rs1555533857
|
|
NM_001042492.3(NF1):c.5675T>A (p.Leu1892Ter)
|
rs2069450324
|
|
NM_001042492.3(NF1):c.5675dup (p.Leu1892fs)
|
|
|
NM_001042492.3(NF1):c.5676A>C (p.Leu1892Phe)
|
rs876658130
|
|
NM_001042492.3(NF1):c.5676A>T (p.Leu1892Phe)
|
|
|
NM_001042492.3(NF1):c.5676dup (p.Leu1893fs)
|
rs1475358670
|
|
NM_001042492.3(NF1):c.5677C>G (p.Leu1893Val)
|
|
|
NM_001042492.3(NF1):c.5677C>T (p.Leu1893=)
|
rs1597834730
|
|
NM_001042492.3(NF1):c.5679A>G (p.Leu1893=)
|
rs2151544593
|
|
NM_001042492.3(NF1):c.567A>G (p.Lys189=)
|
rs1567820796
|
|
NM_001042492.3(NF1):c.567A>T (p.Lys189Asn)
|
|
|
NM_001042492.3(NF1):c.567del (p.Lys189fs)
|
rs2143708010
|
|
NM_001042492.3(NF1):c.567dup (p.Leu190fs)
|
|
|
NM_001042492.3(NF1):c.5680G>T (p.Glu1894Ter)
|
rs774893767
|
|
NM_001042492.3(NF1):c.5682_5683delinsCT (p.Glu1894_Thr1895delinsAspSer)
|
rs2151544601
|
|
NM_001042492.3(NF1):c.5685A>G (p.Thr1895=)
|
rs2151544609
|
|
NM_001042492.3(NF1):c.5686dup (p.Ser1896fs)
|
|
|
NM_001042492.3(NF1):c.5687C>A (p.Ser1896Ter)
|
rs1135402879
|
|
NM_001042492.3(NF1):c.5687C>G (p.Ser1896Ter)
|
rs1135402879
|
|
NM_001042492.3(NF1):c.5687del (p.Thr1895_Ser1896insTer)
|
|
|
NM_001042492.3(NF1):c.5687dup (p.Gly1897fs)
|
|
|
NM_001042492.3(NF1):c.5688A>G (p.Ser1896=)
|
rs1597834745
|
|
NM_001042492.3(NF1):c.5688del (p.Gly1897fs)
|
|
|
NM_001042492.3(NF1):c.5689G>A (p.Gly1897Ser)
|
rs368201829
|
|
NM_001042492.3(NF1):c.5690G>T (p.Gly1897Val)
|
rs1597834751
|
|
NM_001042492.3(NF1):c.5690del (p.Gly1897fs)
|
rs2151544622
|
|
NM_001042492.3(NF1):c.5693del (p.Leu1898fs)
|
|
|
NM_001042492.3(NF1):c.5694A>G (p.Leu1898=)
|
rs1555533863
|
|
NM_001042492.3(NF1):c.5697T>C (p.Cys1899=)
|
rs1597834760
|
|
NM_001042492.3(NF1):c.5699T>C (p.Ile1900Thr)
|
|
|
NM_001042492.3(NF1):c.5699del (p.Ile1900fs)
|
rs1060500353
|
|
NM_001042492.3(NF1):c.569T>A (p.Leu190Ter)
|
|
|
NM_001042492.3(NF1):c.569T>G (p.Leu190Ter)
|
rs1555607112
|
|
NM_001042492.3(NF1):c.569del (p.Lys189_Leu190insTer)
|
rs1555607110
|
|
NM_001042492.3(NF1):c.5700C>A (p.Ile1900=)
|
rs763851410
|
|
NM_001042492.3(NF1):c.5700C>T (p.Ile1900=)
|
rs763851410
|
|
NM_001042492.3(NF1):c.5702C>T (p.Pro1901Leu)
|
rs2069451171
|
|
NM_001042492.3(NF1):c.5705C>G (p.Ala1902Gly)
|
|
|
NM_001042492.3(NF1):c.5705C>T (p.Ala1902Val)
|
rs1465309384
|
|
NM_001042492.3(NF1):c.5706dup (p.Asn1903fs)
|
|
|
NM_001042492.3(NF1):c.5709del (p.Asn1903fs)
|
rs2069451431
|
|
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.5711A>G (p.Asn1904Ser)
|
rs864622647
|
|
NM_001042492.3(NF1):c.5712C>T (p.Asn1904=)
|
|
|
NM_001042492.3(NF1):c.5715C>G (p.Thr1905=)
|
|
|
NM_001042492.3(NF1):c.5716del (p.Leu1906fs)
|
rs2151544706
|
|
NM_001042492.3(NF1):c.5718C>G (p.Leu1906=)
|
rs2151544713
|
|
NM_001042492.3(NF1):c.5719T>C (p.Phe1907Leu)
|
rs876660040
|
|
NM_001042492.3(NF1):c.5720T>A (p.Phe1907Tyr)
|
rs1567613677
|
|
NM_001042492.3(NF1):c.5721T>C (p.Phe1907=)
|
rs1555533868
|
|
NM_001042492.3(NF1):c.5721_5722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNNNNNNCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACAACACCCTCTTT (p.Ile1908delinsPhePhePhePhePhePhePhePhePhePheXaaXaaXaaXaaXaaXaaGlyTer)
|
rs2151544665
|
|
NM_001042492.3(NF1):c.5721_5724del (p.Phe1907fs)
|
|
|
NM_001042492.3(NF1):c.5721_5730del (p.Phe1907fs)
|
rs2151544720
|
|
NM_001042492.3(NF1):c.5721del (p.Phe1907fs)
|
rs2151544716
|
|
NM_001042492.3(NF1):c.5723_5742del (p.Ile1908fs)
|
rs1567613682
|
|
NM_001042492.3(NF1):c.5724T>C (p.Ile1908=)
|
rs786203312
|
|
NM_001042492.3(NF1):c.5724del (p.Ile1908fs)
|
rs2151544737
|
|
NM_001042492.3(NF1):c.5725G>A (p.Val1909Ile)
|
|
|
NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys)
|
rs751904277
|
|
NM_001042492.3(NF1):c.5729C>T (p.Ser1910Phe)
|
rs751904277
|
|
NM_001042492.3(NF1):c.5729_5730del (p.Ser1910fs)
|
rs1597834820
|
|
NM_001042492.3(NF1):c.572A>C (p.Lys191Thr)
|
rs1555607113
|
|
NM_001042492.3(NF1):c.572A>G (p.Lys191Arg)
|
|
|
NM_001042492.3(NF1):c.5730_5734dup (p.Ser1912fs)
|
rs2151544765
|
|
NM_001042492.3(NF1):c.5730del (p.Ile1911fs)
|
|
|
NM_001042492.3(NF1):c.5730dup (p.Ile1911fs)
|
rs876660212
|
|
NM_001042492.3(NF1):c.5731A>T (p.Ile1911Phe)
|
|
|
NM_001042492.3(NF1):c.5731_5734dup (p.Ser1912delinsAsnTer)
|
rs1555533871
|
|
NM_001042492.3(NF1):c.5731dup (p.Ile1911fs)
|
rs2069452094
|
|
NM_001042492.3(NF1):c.5732T>A (p.Ile1911Asn)
|
rs1597834839
|
|
NM_001042492.3(NF1):c.5732T>C (p.Ile1911Thr)
|
rs1597834839
|
|
NM_001042492.3(NF1):c.5733_5734delinsAC (p.Ser1912Arg)
|
rs2069452266
|
|
NM_001042492.3(NF1):c.5733del (p.Ser1912fs)
|
|
|
NM_001042492.3(NF1):c.5733dup (p.Ser1912Ter)
|
|
|
NM_001042492.3(NF1):c.5734A>C (p.Ser1912Arg)
|
|
|
NM_001042492.3(NF1):c.5734_5735insATA (p.Ile1911_Ser1912insAsn)
|
|
|
NM_001042492.3(NF1):c.5735G>A (p.Ser1912Asn)
|
|
|
NM_001042492.3(NF1):c.5735dup (p.Ser1912fs)
|
|
|
NM_001042492.3(NF1):c.5736T>C (p.Ser1912=)
|
|
|
NM_001042492.3(NF1):c.5736T>G (p.Ser1912Arg)
|
|
|
NM_001042492.3(NF1):c.5736_5737delinsAT (p.Ser1912_Lys1913delinsArgTer)
|
rs2151544798
|
|
NM_001042492.3(NF1):c.5736_5739del (p.Ser1912fs)
|
rs2151544789
|
|
NM_001042492.3(NF1):c.5737A>T (p.Lys1913Ter)
|
rs1597834842
|
|
NM_001042492.3(NF1):c.5738_5740dup (p.Lys1913_Thr1914insLys)
|
|
|
NM_001042492.3(NF1):c.573del (p.Lys191fs)
|
rs2065904589
|
|
NM_001042492.3(NF1):c.5740A>C (p.Thr1914Pro)
|
rs2069452483
|
|
NM_001042492.3(NF1):c.5741C>A (p.Thr1914Lys)
|
rs1555533873
|
|
NM_001042492.3(NF1):c.5742A>G (p.Thr1914=)
|
|
|
NM_001042492.3(NF1):c.5742A>T (p.Thr1914=)
|
rs1555533874
|
|
NM_001042492.3(NF1):c.5742_5743del (p.Leu1915fs)
|
|
|
NM_001042492.3(NF1):c.5743C>T (p.Leu1915=)
|
rs2151544820
|
|
NM_001042492.3(NF1):c.5744T>C (p.Leu1915Pro)
|
rs1555533875
|
|
NM_001042492.3(NF1):c.5744T>G (p.Leu1915Arg)
|
|
|
NM_001042492.3(NF1):c.5744del (p.Leu1915fs)
|
|
|
NM_001042492.3(NF1):c.5746G>C (p.Ala1916Pro)
|
rs62070718
|
|
NM_001042492.3(NF1):c.5746G>T (p.Ala1916Ser)
|
rs62070718
|
|
NM_001042492.3(NF1):c.5748A>G (p.Ala1916=)
|
|
|
NM_001042492.3(NF1):c.574C>A (p.Arg192=)
|
rs397514641
|
|
NM_001042492.3(NF1):c.5750C>A (p.Ala1917Asp)
|
rs2069452996
|
|
NM_001042492.3(NF1):c.5750C>G (p.Ala1917Gly)
|
rs2069452996
|
|
NM_001042492.3(NF1):c.5751C>G (p.Ala1917=)
|
rs1597834874
|
|
NM_001042492.3(NF1):c.5752A>C (p.Asn1918His)
|
rs750915711
|
|
NM_001042492.3(NF1):c.5755G>A (p.Glu1919Lys)
|
rs1227869359
|
|
NM_001042492.3(NF1):c.5755G>T (p.Glu1919Ter)
|
rs1227869359
|
|
NM_001042492.3(NF1):c.5761C>T (p.His1921Tyr)
|
|
|
NM_001042492.3(NF1):c.5762A>G (p.His1921Arg)
|
rs2151544881
|
|
NM_001042492.3(NF1):c.5762_5763del (p.His1921fs)
|
|
|
NM_001042492.3(NF1):c.5763C>T (p.His1921=)
|
|
|
NM_001042492.3(NF1):c.5764_5768del (p.Leu1922fs)
|
|
|
NM_001042492.3(NF1):c.5766C>A (p.Leu1922=)
|
|
|
NM_001042492.3(NF1):c.5767A>T (p.Thr1923Ser)
|
rs2151544901
|
|
NM_001042492.3(NF1):c.5767dup (p.Thr1923fs)
|
rs2069453458
|
|
NM_001042492.3(NF1):c.5768C>A (p.Thr1923Lys)
|
rs786203824
|
|
NM_001042492.3(NF1):c.5768C>G (p.Thr1923Arg)
|
rs786203824
|
|
NM_001042492.3(NF1):c.5769G>T (p.Thr1923=)
|
|
|
NM_001042492.3(NF1):c.5769_5770insGG (p.Leu1924fs)
|
|
|
NM_001042492.3(NF1):c.5771T>A (p.Leu1924Ter)
|
rs1198491194
|
|
NM_001042492.3(NF1):c.5771T>G (p.Leu1924Ter)
|
|
|
NM_001042492.3(NF1):c.5773G>C (p.Glu1925Gln)
|
|
|
NM_001042492.3(NF1):c.5773G>T (p.Glu1925Ter)
|
rs137854565
|
|
NM_001042492.3(NF1):c.5773del (p.Glu1925fs)
|
rs2151544918
|
|
NM_001042492.3(NF1):c.5775A>T (p.Glu1925Asp)
|
rs2151544922
|
|
NM_001042492.3(NF1):c.5780T>C (p.Leu1927Ser)
|
|
|
NM_001042492.3(NF1):c.5780T>G (p.Leu1927Trp)
|
rs2151544934
|
|
NM_001042492.3(NF1):c.5780del (p.Leu1927fs)
|
rs1135402880
|
|
NM_001042492.3(NF1):c.5780dup (p.Leu1927fs)
|
rs1135402880
|
|
NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter)
|
rs786203896
|
|
NM_001042492.3(NF1):c.5783A>G (p.Glu1928Gly)
|
rs2069453957
|
|
NM_001042492.3(NF1):c.5784A>G (p.Glu1928=)
|
|
|
NM_001042492.3(NF1):c.5784_5799dup (p.Phe1934fs)
|
|
|
NM_001042492.3(NF1):c.5785G>A (p.Glu1929Lys)
|
rs2069454068
|
|
NM_001042492.3(NF1):c.5785G>T (p.Glu1929Ter)
|
rs2069454068
|
|
NM_001042492.3(NF1):c.5786A>C (p.Glu1929Ala)
|
|
|
NM_001042492.3(NF1):c.5786_5787del (p.Glu1929fs)
|
rs1555533882
|
|
NM_001042492.3(NF1):c.5786del (p.Glu1929fs)
|
rs1555533883
|
|
NM_001042492.3(NF1):c.5787G>A (p.Glu1929=)
|
rs786202591
|
|
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>A (p.Cys1930Ser)
|
rs2069454402
|
|
NM_001042492.3(NF1):c.5788T>C (p.Cys1930Arg)
|
rs2069454402
|
|
NM_001042492.3(NF1):c.5789G>A (p.Cys1930Tyr)
|
rs755138009
|
|
NM_001042492.3(NF1):c.5789_5790del (p.Cys1930fs)
|
rs2069454362
|
|
NM_001042492.3(NF1):c.578T>C (p.Leu193Pro)
|
|
|
NM_001042492.3(NF1):c.578T>G (p.Leu193Arg)
|
|
|
NM_001042492.3(NF1):c.5792_5812+7del
|
|
|
NM_001042492.3(NF1):c.5796T>C (p.Ser1932=)
|
|
|
NM_001042492.3(NF1):c.5797G>A (p.Gly1933Arg)
|
|
|
NM_001042492.3(NF1):c.579C>A (p.Leu193=)
|
|
|
NM_001042492.3(NF1):c.579_580insAGTTACAGTATATCAATGTGGATTGTGCAAAATTAAAACGACTC (p.Leu194delinsSerTyrSerIleSerMetTrpIleValGlnAsnTer)
|
|
|
NM_001042492.3(NF1):c.579_581del (p.Leu194del)
|
rs2143708173
|
|
NM_001042492.3(NF1):c.5800T>A (p.Phe1934Ile)
|
|
|
NM_001042492.3(NF1):c.5800T>C (p.Phe1934Leu)
|
rs2151544983
|
|
NM_001042492.3(NF1):c.5801T>G (p.Phe1934Cys)
|
rs2151544987
|
|
NM_001042492.3(NF1):c.5802del (p.Phe1934fs)
|
rs1597834952
|
|
NM_001042492.3(NF1):c.5805C>T (p.Ser1935=)
|
rs876660179
|
|
NM_001042492.3(NF1):c.5807A>G (p.Lys1936Arg)
|
rs2069454728
|
|
NM_001042492.3(NF1):c.5808del (p.Lys1936fs)
|
|
|
NM_001042492.3(NF1):c.5808dup (p.Ser1937fs)
|
|
|
NM_001042492.3(NF1):c.5809del (p.Ser1937fs)
|
|
|
NM_001042492.3(NF1):c.580C>T (p.Leu194=)
|
|
|
NM_001042492.3(NF1):c.5810del (p.Ser1937fs)
|
|
|
NM_001042492.3(NF1):c.5812+10G>A
|
rs2069455603
|
|
NM_001042492.3(NF1):c.5812+12T>G
|
rs2151545068
|
|
NM_001042492.3(NF1):c.5812+13A>G
|
|
|
NM_001042492.3(NF1):c.5812+14A>C
|
|
|
NM_001042492.3(NF1):c.5812+18_5812+22del
|
rs2151545082
|
|
NM_001042492.3(NF1):c.5812+18del
|
rs2151545079
|
|
NM_001042492.3(NF1):c.5812+19C>A
|
|
|
NM_001042492.3(NF1):c.5812+19C>T
|
|
|
NM_001042492.3(NF1):c.5812+1G>A
|
rs876658854
|
|
NM_001042492.3(NF1):c.5812+1G>C
|
|
|
NM_001042492.3(NF1):c.5812+1G>T
|
rs876658854
|
|
NM_001042492.3(NF1):c.5812+1del
|
rs2151545014
|
|
NM_001042492.3(NF1):c.5812+20T>C
|
|
|
NM_001042492.3(NF1):c.5812+2T>C
|
rs1555533887
|
|
NM_001042492.3(NF1):c.5812+2T>G
|
rs1555533887
|
|
NM_001042492.3(NF1):c.5812+2_5812+3insTA
|
rs2069454921
|
|
NM_001042492.3(NF1):c.5812+2dup
|
rs1597834973
|
|
NM_001042492.3(NF1):c.5812+332A>C
|
rs863224491
|
|
NM_001042492.3(NF1):c.5812+3A>C
|
rs1597834976
|
|
NM_001042492.3(NF1):c.5812+3_5812+15del
|
|
|
NM_001042492.3(NF1):c.5812+3_5812+4del
|
rs1555533888
|
|
NM_001042492.3(NF1):c.5812+4A>C
|
rs1597834988
|
|
NM_001042492.3(NF1):c.5812+4A>T
|
rs1597834988
|
|
NM_001042492.3(NF1):c.5812+4dup
|
rs2151545035
|
|
NM_001042492.3(NF1):c.5812+5G>A
|
rs1555533889
|
|
NM_001042492.3(NF1):c.5812+5G>T
|
|
|
NM_001042492.3(NF1):c.5812+5_5812+8del
|
|
|
NM_001042492.3(NF1):c.5812+6T>G
|
rs1555533893
|
|
NM_001042492.3(NF1):c.5812+6_5812+9del
|
|
|
NM_001042492.3(NF1):c.5812+750_6006+244del
|
|
|
NM_001042492.3(NF1):c.5812+7A>C
|
rs1597835005
|
|
NM_001042492.3(NF1):c.5812+7A>G
|
|
|
NM_001042492.3(NF1):c.5812+7A>T
|
|
|
NM_001042492.3(NF1):c.5812+9_5812+10insAC
|
|
|
NM_001042492.3(NF1):c.5812A>G (p.Ser1938Gly)
|
rs1555533885
|
|
NM_001042492.3(NF1):c.5812dup (p.Ser1938fs)
|
|
|
NM_001042492.3(NF1):c.5813-1086_6006+244del
|
|
|
NM_001042492.3(NF1):c.5813-12A>C
|
rs768741646
|
|
NM_001042492.3(NF1):c.5813-12A>G
|
rs768741646
|
|
NM_001042492.3(NF1):c.5813-12_5813-9del
|
rs1597839926
|
|
NM_001042492.3(NF1):c.5813-13T>A
|
rs749203990
|
|
NM_001042492.3(NF1):c.5813-13T>C
|
|
|
NM_001042492.3(NF1):c.5813-13T>G
|
rs749203990
|
|
NM_001042492.3(NF1):c.5813-15T>C
|
|
|
NM_001042492.3(NF1):c.5813-16G>A
|
|
|
NM_001042492.3(NF1):c.5813-1748_6247delinsCTA
|
|
|
NM_001042492.3(NF1):c.5813-177A>C
|
|
|
NM_001042492.3(NF1):c.5813-17A>G
|
|
|
NM_001042492.3(NF1):c.5813-18T>A
|
|
|
NM_001042492.3(NF1):c.5813-1G>A
|
rs1057518974
|
|
NM_001042492.3(NF1):c.5813-374_6007-176del
|
|
|
NM_001042492.3(NF1):c.5813-3C>T
|
rs2151550224
|
|
NM_001042492.3(NF1):c.5813-460_6006+244del
|
rs1555534307
|
|
NM_001042492.3(NF1):c.5813-4C>G
|
|
|
NM_001042492.3(NF1):c.5813-4_5817del
|
|
|
NM_001042492.3(NF1):c.5813-5T>C
|
rs2151550215
|
|
NM_001042492.3(NF1):c.5813-5del
|
rs775451791
|
|
NM_001042492.3(NF1):c.5813-5dup
|
rs775451791
|
|
NM_001042492.3(NF1):c.5813G>A (p.Ser1938Asn)
|
rs906075234
|
|
NM_001042492.3(NF1):c.5814_5815insTTTTT (p.Ile1939fs)
|
rs1481408918
|
|
NM_001042492.3(NF1):c.5815A>G (p.Ile1939Val)
|
rs1173859882
|
|
NM_001042492.3(NF1):c.5815A>T (p.Ile1939Phe)
|
rs1173859882
|
|
NM_001042492.3(NF1):c.5816T>C (p.Ile1939Thr)
|
rs1304057833
|
|
NM_001042492.3(NF1):c.5816T>G (p.Ile1939Ser)
|
rs1304057833
|
|
NM_001042492.3(NF1):c.5817T>C (p.Ile1939=)
|
|
|
NM_001042492.3(NF1):c.5818G>T (p.Glu1940Ter)
|
rs1376900184
|
|
NM_001042492.3(NF1):c.5819_5834del (p.Glu1940fs)
|
rs2069601265
|
|
NM_001042492.3(NF1):c.581T>C (p.Leu194Pro)
|
rs199474753
|
|
NM_001042492.3(NF1):c.581T>G (p.Leu194Arg)
|
rs199474753
|
|
NM_001042492.3(NF1):c.5821T>C (p.Leu1941=)
|
rs2151550259
|
|
NM_001042492.3(NF1):c.5821_5825del (p.Leu1941fs)
|
rs2151550241
|
|
NM_001042492.3(NF1):c.5821_5825dup (p.Lys1942delinsAsnTer)
|
rs2151550241
|
|
NM_001042492.3(NF1):c.5825A>G (p.Lys1942Arg)
|
rs2069601534
|
|
NM_001042492.3(NF1):c.5828_5829del (p.His1943fs)
|
rs2151550270
|
|
NM_001042492.3(NF1):c.5829C>T (p.His1943=)
|
|
|
NM_001042492.3(NF1):c.582G>A (p.Leu194=)
|
rs786201846
|
|
NM_001042492.3(NF1):c.582G>T (p.Leu194=)
|
rs786201846
|
|
NM_001042492.3(NF1):c.5830del (p.Leu1944fs)
|
rs1555534378
|
|
NM_001042492.3(NF1):c.5831T>C (p.Leu1944Pro)
|
rs2069601725
|
|
NM_001042492.3(NF1):c.5832T>A (p.Leu1944=)
|
rs2151550292
|
|
NM_001042492.3(NF1):c.5833T>C (p.Cys1945Arg)
|
|
|
NM_001042492.3(NF1):c.5833del (p.Cys1945fs)
|
rs1555534379
|
|
NM_001042492.3(NF1):c.5834del (p.Cys1945fs)
|
|
|
NM_001042492.3(NF1):c.5835_5838del (p.Cys1945fs)
|
|
|
NM_001042492.3(NF1):c.5836T>A (p.Leu1946Met)
|
rs1422333640
|
|
NM_001042492.3(NF1):c.5836T>C (p.Leu1946=)
|
|
|
NM_001042492.3(NF1):c.5836T>G (p.Leu1946Val)
|
|
|
NM_001042492.3(NF1):c.5837del (p.Leu1946fs)
|
rs2069601882
|
|
NM_001042492.3(NF1):c.5837dup (p.Leu1946fs)
|
|
|
NM_001042492.3(NF1):c.5839G>T (p.Glu1947Ter)
|
rs587782088
|
|
NM_001042492.3(NF1):c.5841dup (p.Tyr1948fs)
|
|
|
NM_001042492.3(NF1):c.5842T>C (p.Tyr1948His)
|
rs1057520575
|
|
NM_001042492.3(NF1):c.5843dup (p.Tyr1948Ter)
|
rs1135402881
|
|
NM_001042492.3(NF1):c.5844C>A (p.Tyr1948Ter)
|
|
|
NM_001042492.3(NF1):c.5844C>T (p.Tyr1948=)
|
rs1373088315
|
|
NM_001042492.3(NF1):c.5845A>T (p.Met1949Leu)
|
rs1597840049
|
|
NM_001042492.3(NF1):c.5846del (p.Met1949fs)
|
rs2151550327
|
|
NM_001042492.3(NF1):c.5847del (p.Met1949fs)
|
rs1597840055
|
|
NM_001042492.3(NF1):c.5848_6006+269delinsTTTGTTTGGAATACATATGTATATAATTATATAGGATTATATGTAGGATTATATGTAGGATTATATTTATAATATAAATATATATT
|
|
|
NM_001042492.3(NF1):c.584A>C (p.Lys195Thr)
|
|
|
NM_001042492.3(NF1):c.5851C>G (p.Pro1951Ala)
|
rs1555534391
|
|
NM_001042492.3(NF1):c.5852_5853dup (p.Trp1952fs)
|
|
|
NM_001042492.3(NF1):c.5852dup (p.Trp1952fs)
|
rs2069602426
|
|
NM_001042492.3(NF1):c.5854T>A (p.Trp1952Arg)
|
rs199474791
|
|
NM_001042492.3(NF1):c.5854T>C (p.Trp1952Arg)
|
rs199474791
|
|
NM_001042492.3(NF1):c.5854dup (p.Trp1952fs)
|
|
|
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.5856del (p.Trp1952fs)
|
|
|
NM_001042492.3(NF1):c.5857C>G (p.Leu1953Val)
|
|
|
NM_001042492.3(NF1):c.5857C>T (p.Leu1953=)
|
rs1555534394
|
|
NM_001042492.3(NF1):c.5858T>C (p.Leu1953Pro)
|
rs199474792
|
|
NM_001042492.3(NF1):c.5858T>G (p.Leu1953Arg)
|
rs199474792
|
|
NM_001042492.3(NF1):c.5859G>C (p.Leu1953=)
|
|
|
NM_001042492.3(NF1):c.585G>A (p.Lys195=)
|
rs918734204
|
|
NM_001042492.3(NF1):c.586+10_586+15del
|
rs1555607130
|
|
NM_001042492.3(NF1):c.586+11A>G
|
rs931576798
|
|
NM_001042492.3(NF1):c.586+12T>A
|
|
|
NM_001042492.3(NF1):c.586+12T>C
|
rs374227010
|
|
NM_001042492.3(NF1):c.586+13G>A
|
rs746178655
|
|
NM_001042492.3(NF1):c.586+15A>C
|
rs2065905426
|
|
NM_001042492.3(NF1):c.586+15A>G
|
rs2065905426
|
|
NM_001042492.3(NF1):c.586+17A>G
|
|
|
NM_001042492.3(NF1):c.586+18A>G
|
rs2143708552
|
|
NM_001042492.3(NF1):c.586+1G>A
|
rs1555607126
|
|
NM_001042492.3(NF1):c.586+1G>T
|
rs1555607126
|
|
NM_001042492.3(NF1):c.586+20A>G
|
|
|
NM_001042492.3(NF1):c.586+2T>C
|
rs1135402791
|
|
NM_001042492.3(NF1):c.586+2T>G
|
|
|
NM_001042492.3(NF1):c.586+3A>G
|
rs2065905008
|
|
NM_001042492.3(NF1):c.586+3A>T
|
|
|
NM_001042492.3(NF1):c.586+4A>C
|
|
|
NM_001042492.3(NF1):c.586+4A>G
|
rs1597644028
|
|
NM_001042492.3(NF1):c.586+4dup
|
rs2143708312
|
|
NM_001042492.3(NF1):c.586+5G>A
|
rs1060500284
|
|
NM_001042492.3(NF1):c.586+5G>C
|
rs1060500284
|
|
NM_001042492.3(NF1):c.586+5del
|
rs1567820838
|
|
NM_001042492.3(NF1):c.586+664A>G
|
|
|
NM_001042492.3(NF1):c.586+9A>G
|
rs757780611
|
|
NM_001042492.3(NF1):c.586+9_586+10insTGTAT
|
rs2143708442
|
|
NM_001042492.3(NF1):c.5861C>A (p.Ser1954Ter)
|
|
|
NM_001042492.3(NF1):c.5861C>G (p.Ser1954Ter)
|
rs2069602711
|
|
NM_001042492.3(NF1):c.5861C>T (p.Ser1954Leu)
|
rs2069602711
|
|
NM_001042492.3(NF1):c.5862A>C (p.Ser1954=)
|
rs2151550379
|
|
NM_001042492.3(NF1):c.5863A>T (p.Asn1955Tyr)
|
rs1567615782
|
|
NM_001042492.3(NF1):c.5864A>G (p.Asn1955Ser)
|
|
|
NM_001042492.3(NF1):c.5864del (p.Asn1955fs)
|
|
|
NM_001042492.3(NF1):c.5865T>C (p.Asn1955=)
|
rs863224356
|
|
NM_001042492.3(NF1):c.5866C>A (p.Leu1956Ile)
|
rs747678243
|
|
NM_001042492.3(NF1):c.5866C>G (p.Leu1956Val)
|
|
|
NM_001042492.3(NF1):c.5867T>G (p.Leu1956Arg)
|
rs1597840087
|
|
NM_001042492.3(NF1):c.5867del (p.Leu1956fs)
|
|
|
NM_001042492.3(NF1):c.5868A>C (p.Leu1956=)
|
|
|
NM_001042492.3(NF1):c.5868A>G (p.Leu1956=)
|
|
|
NM_001042492.3(NF1):c.5869G>A (p.Val1957Ile)
|
|
|
NM_001042492.3(NF1):c.586G>A (p.Glu196Lys)
|
rs876659079
|
|
NM_001042492.3(NF1):c.586G>T (p.Glu196Ter)
|
rs876659079
|
|
NM_001042492.3(NF1):c.587-11_587-10del
|
|
|
NM_001042492.3(NF1):c.587-12T>C
|
|
|
NM_001042492.3(NF1):c.587-13G>A
|
rs1040272156
|
|
NM_001042492.3(NF1):c.587-13G>T
|
rs1040272156
|
|
NM_001042492.3(NF1):c.587-14T>A
|
rs940581106
|
|
NM_001042492.3(NF1):c.587-14T>C
|
rs940581106
|
|
NM_001042492.3(NF1):c.587-14del
|
|
|
NM_001042492.3(NF1):c.587-15T>C
|
rs2143773718
|
|
NM_001042492.3(NF1):c.587-15_587-14del
|
rs1597657969
|
|
NM_001042492.3(NF1):c.587-16A>C
|
|
|
NM_001042492.3(NF1):c.587-1G>C
|
|
|
NM_001042492.3(NF1):c.587-2A>G
|
rs1057518360
|
|
NM_001042492.3(NF1):c.587-2A>T
|
rs1057518360
|
|
NM_001042492.3(NF1):c.587-3C>G
|
rs375188075
|
|
NM_001042492.3(NF1):c.587-5T>C
|
rs2143773838
|
|
NM_001042492.3(NF1):c.587-5dup
|
rs759349569
|
|
NM_001042492.3(NF1):c.587-6T>C
|
rs2143773829
|
|
NM_001042492.3(NF1):c.587-6_587-5del
|
rs759349569
|
|
NM_001042492.3(NF1):c.5870T>C (p.Val1957Ala)
|
rs2069602993
|
|
NM_001042492.3(NF1):c.5871del (p.Arg1958fs)
|
|
|
NM_001042492.3(NF1):c.5872del (p.Arg1958fs)
|
rs2069603045
|
|
NM_001042492.3(NF1):c.5873G>A (p.Arg1958His)
|
|
|
NM_001042492.3(NF1):c.5876T>C (p.Phe1959Ser)
|
|
|
NM_001042492.3(NF1):c.5880C>A (p.Cys1960Ter)
|
rs1462287670
|
|
NM_001042492.3(NF1):c.5880C>T (p.Cys1960=)
|
|
|
NM_001042492.3(NF1):c.5882A>G (p.Lys1961Arg)
|
rs2069603347
|
|
NM_001042492.3(NF1):c.5885A>C (p.His1962Pro)
|
rs1555534402
|
|
NM_001042492.3(NF1):c.5885A>G (p.His1962Arg)
|
rs1555534402
|
|
NM_001042492.3(NF1):c.5886dup (p.Asn1963Ter)
|
rs2069603579
|
|
NM_001042492.3(NF1):c.5887_5889del (p.Asn1963del)
|
rs1555534403
|
|
NM_001042492.3(NF1):c.5890G>A (p.Asp1964Asn)
|
|
|
NM_001042492.3(NF1):c.5891_5892insAT (p.Asp1964fs)
|
|
|
NM_001042492.3(NF1):c.5892T>C (p.Asp1964=)
|
rs113768154
|
|
NM_001042492.3(NF1):c.5893G>A (p.Asp1965Asn)
|
|
|
NM_001042492.3(NF1):c.5894A>T (p.Asp1965Val)
|
rs2151550455
|
|
NM_001042492.3(NF1):c.5896G>A (p.Ala1966Thr)
|
|
|
NM_001042492.3(NF1):c.5896_5897delinsAT (p.Ala1966Ile)
|
rs2151550467
|
|
NM_001042492.3(NF1):c.5897C>T (p.Ala1966Val)
|
|
|
NM_001042492.3(NF1):c.5898C>G (p.Ala1966=)
|
rs2151550470
|
|
NM_001042492.3(NF1):c.589A>G (p.Thr197Ala)
|
rs1171626658
|
|
NM_001042492.3(NF1):c.5900A>G (p.Lys1967Arg)
|
rs1567615807
|
|
NM_001042492.3(NF1):c.5902C>A (p.Arg1968=)
|
rs137854552
|
|
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter)
|
rs137854552
|
|
NM_001042492.3(NF1):c.5903G>A (p.Arg1968Gln)
|
|
|
NM_001042492.3(NF1):c.5905C>T (p.Gln1969Ter)
|
|
|
NM_001042492.3(NF1):c.5906A>G (p.Gln1969Arg)
|
|
|
NM_001042492.3(NF1):c.5907_5908del (p.Arg1970fs)
|
rs863224835
|
|
NM_001042492.3(NF1):c.5908A>T (p.Arg1970Ter)
|
rs267606595
|
|
NM_001042492.3(NF1):c.5908_5909insTA (p.Arg1970fs)
|
rs1060500354
|
|
NM_001042492.3(NF1):c.5908dup (p.Arg1970fs)
|
|
|
NM_001042492.3(NF1):c.590C>G (p.Thr197Arg)
|
rs1597658021
|
|
NM_001042492.3(NF1):c.590C>T (p.Thr197Ile)
|
|
|
NM_001042492.3(NF1):c.590_591del (p.Thr197fs)
|
rs2143773941
|
|
NM_001042492.3(NF1):c.590_600del (p.Thr197fs)
|
|
|
NM_001042492.3(NF1):c.5910_5911del (p.Arg1970fs)
|
rs2151550502
|
|
NM_001042492.3(NF1):c.5911G>A (p.Val1971Ile)
|
rs2069605938
|
|
NM_001042492.3(NF1):c.5911_5914dup (p.Thr1972fs)
|
rs2151550507
|
|
NM_001042492.3(NF1):c.5912_5913dup (p.Thr1972fs)
|
rs2069605987
|
|
NM_001042492.3(NF1):c.5913T>A (p.Val1971=)
|
|
|
NM_001042492.3(NF1):c.5914dup (p.Thr1972fs)
|
rs2069606043
|
|
NM_001042492.3(NF1):c.5915del (p.Thr1972fs)
|
|
|
NM_001042492.3(NF1):c.5916T>C (p.Thr1972=)
|
rs2151550524
|
|
NM_001042492.3(NF1):c.5918C>G (p.Ala1973Gly)
|
rs1597840153
|
|
NM_001042492.3(NF1):c.5918C>T (p.Ala1973Val)
|
rs1597840153
|
|
NM_001042492.3(NF1):c.5919del (p.Ile1974fs)
|
|
|
NM_001042492.3(NF1):c.591A>G (p.Thr197=)
|
|
|
NM_001042492.3(NF1):c.591del (p.Ala198fs)
|
|
|
NM_001042492.3(NF1):c.5920A>G (p.Ile1974Val)
|
rs1597840159
|
|
NM_001042492.3(NF1):c.5924T>C (p.Leu1975Pro)
|
rs1555534411
|
|
NM_001042492.3(NF1):c.5925T>G (p.Leu1975=)
|
|
|
NM_001042492.3(NF1):c.5925del (p.Asp1976fs)
|
rs1060500349
|
|
NM_001042492.3(NF1):c.5928C>A (p.Asp1976Glu)
|
rs568852704
|
|
NM_001042492.3(NF1):c.5928C>G (p.Asp1976Glu)
|
rs568852704
|
|
NM_001042492.3(NF1):c.5929_5945del (p.Lys1977fs)
|
|
|
NM_001042492.3(NF1):c.592G>A (p.Ala198Thr)
|
rs1555608643
|
|
NM_001042492.3(NF1):c.592del (p.Ala198fs)
|
rs1567825858
|
|
NM_001042492.3(NF1):c.5931G>A (p.Lys1977=)
|
rs786201672
|
|
NM_001042492.3(NF1):c.5932C>T (p.Leu1978=)
|
rs2151550569
|
|
NM_001042492.3(NF1):c.5933T>C (p.Leu1978Pro)
|
rs2069606635
|
|
NM_001042492.3(NF1):c.5933T>G (p.Leu1978Arg)
|
rs2069606635
|
|
NM_001042492.3(NF1):c.5933_5934delinsCT (p.Leu1978Pro)
|
|
|
NM_001042492.3(NF1):c.5934G>A (p.Leu1978=)
|
rs535803385
|
|
NM_001042492.3(NF1):c.5934G>T (p.Leu1978=)
|
|
|
NM_001042492.3(NF1):c.5935A>G (p.Ile1979Val)
|
rs775480099
|
|
NM_001042492.3(NF1):c.5935A>T (p.Ile1979Leu)
|
rs775480099
|
|
NM_001042492.3(NF1):c.5936T>G (p.Ile1979Arg)
|
|
|
NM_001042492.3(NF1):c.5937A>G (p.Ile1979Met)
|
rs1555534418
|
|
NM_001042492.3(NF1):c.5938del (p.Thr1980fs)
|
rs1567615852
|
|
NM_001042492.3(NF1):c.5939C>T (p.Thr1980Ile)
|
rs1060500336
|
|
NM_001042492.3(NF1):c.593C>A (p.Ala198Glu)
|
rs863224663
|
|
NM_001042492.3(NF1):c.593C>T (p.Ala198Val)
|
rs863224663
|
|
NM_001042492.3(NF1):c.5940A>G (p.Thr1980=)
|
rs1555534422
|
|
NM_001042492.3(NF1):c.5943G>T (p.Met1981Ile)
|
|
|
NM_001042492.3(NF1):c.5943_5965dup (p.Tyr1989Ter)
|
|
|
NM_001042492.3(NF1):c.5943del (p.Met1981fs)
|
rs1567615872
|
|
NM_001042492.3(NF1):c.5944A>T (p.Thr1982Ser)
|
|
|
NM_001042492.3(NF1):c.5945C>A (p.Thr1982Asn)
|
rs1336219677
|
|
NM_001042492.3(NF1):c.5945C>G (p.Thr1982Ser)
|
|
|
NM_001042492.3(NF1):c.5946C>T (p.Thr1982=)
|
rs1555534423
|
|
NM_001042492.3(NF1):c.594A>G (p.Ala198=)
|
rs138411879
|
|
NM_001042492.3(NF1):c.594del (p.Phe199fs)
|
rs1555608647
|
|
NM_001042492.3(NF1):c.5952T>C (p.Asn1984=)
|
|
|
NM_001042492.3(NF1):c.5954A>T (p.Glu1985Val)
|
|
|
NM_001042492.3(NF1):c.5957A>G (p.Lys1986Arg)
|
rs2069607779
|
|
NM_001042492.3(NF1):c.5958dup (p.Gln1987fs)
|
rs2069607664
|
|
NM_001042492.3(NF1):c.5959C>G (p.Gln1987Glu)
|
rs876659070
|
|
NM_001042492.3(NF1):c.5959C>T (p.Gln1987Ter)
|
rs876659070
|
|
NM_001042492.3(NF1):c.5959_5960del (p.Gln1987fs)
|
|
|
NM_001042492.3(NF1):c.5960A>G (p.Gln1987Arg)
|
rs2151550646
|
|
NM_001042492.3(NF1):c.5967C>G (p.Tyr1989Ter)
|
rs1567615902
|
|
NM_001042492.3(NF1):c.5967C>T (p.Tyr1989=)
|
rs1567615902
|
|
NM_001042492.3(NF1):c.5969del (p.Pro1990fs)
|
|
|
NM_001042492.3(NF1):c.5969dup (p.Ser1991fs)
|
|
|
NM_001042492.3(NF1):c.5970A>C (p.Pro1990=)
|
rs876658601
|
|
NM_001042492.3(NF1):c.5970A>G (p.Pro1990=)
|
rs876658601
|
|
NM_001042492.3(NF1):c.5971_5978del (p.Ile1992fs)
|
rs1597840273
|
|
NM_001042492.3(NF1):c.5971dup (p.Ser1991fs)
|
rs2151550685
|
|
NM_001042492.3(NF1):c.5974A>G (p.Ile1992Val)
|
|
|
NM_001042492.3(NF1):c.5974A>T (p.Ile1992Phe)
|
rs1597840279
|
|
NM_001042492.3(NF1):c.5976T>C (p.Ile1992=)
|
rs766233634
|
|
NM_001042492.3(NF1):c.5977C>G (p.Gln1993Glu)
|
|
|
NM_001042492.3(NF1):c.5977C>T (p.Gln1993Ter)
|
|
|
NM_001042492.3(NF1):c.5977_5987del (p.Gln1993fs)
|
rs2151550700
|
|
NM_001042492.3(NF1):c.5977del (p.Gln1993fs)
|
|
|
NM_001042492.3(NF1):c.5978_5979del (p.Gln1993fs)
|
rs2151550708
|
|
NM_001042492.3(NF1):c.597del (p.Phe199fs)
|
|
|
NM_001042492.3(NF1):c.5982A>G (p.Ala1994=)
|
rs876659794
|
|
NM_001042492.3(NF1):c.5984A>G (p.Lys1995Arg)
|
rs1567615913
|
|
NM_001042492.3(NF1):c.5985A>C (p.Lys1995Asn)
|
|
|
NM_001042492.3(NF1):c.5986del (p.Ile1996fs)
|
|
|
NM_001042492.3(NF1):c.5988A>G (p.Ile1996Met)
|
|
|
NM_001042492.3(NF1):c.5988A>T (p.Ile1996=)
|
rs2151550732
|
|
NM_001042492.3(NF1):c.5988_5989del (p.Ile1996fs)
|
|
|
NM_001042492.3(NF1):c.5988dup (p.Trp1997fs)
|
|
|
NM_001042492.3(NF1):c.5989T>C (p.Trp1997Arg)
|
rs1597840306
|
|
NM_001042492.3(NF1):c.5989dup (p.Trp1997fs)
|
|
|
NM_001042492.3(NF1):c.598A>T (p.Lys200Ter)
|
rs2066130986
|
|
NM_001042492.3(NF1):c.5990G>A (p.Trp1997Ter)
|
|
|
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter)
|
rs876660696
|
|
NM_001042492.3(NF1):c.5992G>A (p.Gly1998Arg)
|
rs1555534426
|
|
NM_001042492.3(NF1):c.5992G>T (p.Gly1998Ter)
|
|
|
NM_001042492.3(NF1):c.5995A>T (p.Ser1999Cys)
|
rs753703741
|
|
NM_001042492.3(NF1):c.5997C>A (p.Ser1999Arg)
|
rs2069608865
|
|
NM_001042492.3(NF1):c.5997C>G (p.Ser1999Arg)
|
|
|
NM_001042492.3(NF1):c.5997C>T (p.Ser1999=)
|
rs2069608865
|
|
NM_001042492.3(NF1):c.5998C>T (p.Leu2000Phe)
|
rs1555534429
|
|
NM_001042492.3(NF1):c.5999T>C (p.Leu2000Pro)
|
rs2069608977
|
|
NM_001042492.3(NF1):c.599A>C (p.Lys200Thr)
|
|
|
NM_001042492.3(NF1):c.599A>T (p.Lys200Ile)
|
rs1597658055
|
|
NM_001042492.3(NF1):c.6000T>C (p.Leu2000=)
|
|
|
NM_001042492.3(NF1):c.6001G>A (p.Gly2001Arg)
|
rs199474751
|
|
NM_001042492.3(NF1):c.6001G>C (p.Gly2001Arg)
|
rs199474751
|
|
NM_001042492.3(NF1):c.6002G>A (p.Gly2001Glu)
|
rs878853905
|
|
NM_001042492.3(NF1):c.6002G>T (p.Gly2001Val)
|
rs878853905
|
|
NM_001042492.3(NF1):c.6003G>A (p.Gly2001=)
|
rs1346833291
|
|
NM_001042492.3(NF1):c.6004C>T (p.Gln2002Ter)
|
rs1567615941
|
|
NM_001042492.3(NF1):c.6004del (p.Gln2002fs)
|
rs2151550785
|
|
NM_001042492.3(NF1):c.6005A>C (p.Gln2002Pro)
|
|
|
NM_001042492.3(NF1):c.6006+11T>C
|
|
|
NM_001042492.3(NF1):c.6006+12G>C
|
|
|
NM_001042492.3(NF1):c.6006+13C>T
|
|
|
NM_001042492.3(NF1):c.6006+15C>T
|
rs1460061458
|
|
NM_001042492.3(NF1):c.6006+16A>G
|
|
|
NM_001042492.3(NF1):c.6006+19T>A
|
|
|
NM_001042492.3(NF1):c.6006+1G>A
|
rs1555534433
|
|
NM_001042492.3(NF1):c.6006+1G>C
|
|
|
NM_001042492.3(NF1):c.6006+1G>T
|
rs1555534433
|
|
NM_001042492.3(NF1):c.6006+20A>G
|
|
|
NM_001042492.3(NF1):c.6006+20A>T
|
|
|
NM_001042492.3(NF1):c.6006+5T>C
|
|
|
NM_001042492.3(NF1):c.6006+5_6006+25del
|
rs1555534435
|
|
NM_001042492.3(NF1):c.6006+6G>T
|
|
|
NM_001042492.3(NF1):c.6006+7A>C
|
|
|
NM_001042492.3(NF1):c.6006+7A>T
|
|
|
NM_001042492.3(NF1):c.6006G>C (p.Gln2002His)
|
rs1555534432
|
|
NM_001042492.3(NF1):c.6007-10C>T
|
rs2069667554
|
|
NM_001042492.3(NF1):c.6007-12T>C
|
rs2151553107
|
|
NM_001042492.3(NF1):c.6007-12T>G
|
|
|
NM_001042492.3(NF1):c.6007-14C>G
|
rs2151553087
|
|
NM_001042492.3(NF1):c.6007-18T>C
|
rs770210362
|
|
NM_001042492.3(NF1):c.6007-1G>A
|
rs1555534596
|
|
NM_001042492.3(NF1):c.6007-1G>C
|
rs1555534596
|
|
NM_001042492.3(NF1):c.6007-1G>T
|
rs1555534596
|
|
NM_001042492.3(NF1):c.6007-2A>G
|
rs1555534595
|
|
NM_001042492.3(NF1):c.6007-3T>C
|
|
|
NM_001042492.3(NF1):c.6007-5A>G
|
rs267606604
|
|
NM_001042492.3(NF1):c.6007-7C>T
|
rs2151553126
|
|
NM_001042492.3(NF1):c.6007-8T>C
|
|
|
NM_001042492.3(NF1):c.6007-9_6007-7del
|
rs1274172088
|
|
NM_001042492.3(NF1):c.600A>C (p.Lys200Asn)
|
|
|
NM_001042492.3(NF1):c.600A>G (p.Lys200=)
|
rs2143774046
|
|
NM_001042492.3(NF1):c.6010A>G (p.Thr2004Ala)
|
|
|
NM_001042492.3(NF1):c.6010A>T (p.Thr2004Ser)
|
rs2069668251
|
|
NM_001042492.3(NF1):c.6013G>C (p.Asp2005His)
|
rs876658702
|
|
NM_001042492.3(NF1):c.6014A>T (p.Asp2005Val)
|
rs2151553171
|
|
NM_001042492.3(NF1):c.6015T>G (p.Asp2005Glu)
|
rs2151553173
|
|
NM_001042492.3(NF1):c.6016C>T (p.Leu2006=)
|
rs2151553176
|
|
NM_001042492.3(NF1):c.6017T>G (p.Leu2006Arg)
|
|
|
NM_001042492.3(NF1):c.6018_6020del (p.Leu2007del)
|
rs2151553179
|
|
NM_001042492.3(NF1):c.6019C>G (p.Leu2007Val)
|
|
|
NM_001042492.3(NF1):c.6020T>C (p.Leu2007Pro)
|
|
|
NM_001042492.3(NF1):c.6020T>G (p.Leu2007Arg)
|
rs2069668597
|
|
NM_001042492.3(NF1):c.6022G>C (p.Asp2008His)
|
rs786201924
|
|
NM_001042492.3(NF1):c.6022G>T (p.Asp2008Tyr)
|
rs786201924
|
|
NM_001042492.3(NF1):c.6023A>C (p.Asp2008Ala)
|
rs2069668717
|
|
NM_001042492.3(NF1):c.6023A>G (p.Asp2008Gly)
|
rs2069668717
|
|
NM_001042492.3(NF1):c.6023A>T (p.Asp2008Val)
|
rs2069668717
|
|
NM_001042492.3(NF1):c.6024TGT[1] (p.Val2010del)
|
rs2069668833
|
|
NM_001042492.3(NF1):c.6025G>T (p.Val2009Phe)
|
|
|
NM_001042492.3(NF1):c.6027T>C (p.Val2009=)
|
|
|
NM_001042492.3(NF1):c.6028G>A (p.Val2010Ile)
|
|
|
NM_001042492.3(NF1):c.602T>G (p.Phe201Cys)
|
rs2066131098
|
|
NM_001042492.3(NF1):c.6030A>G (p.Val2010=)
|
|
|
NM_001042492.3(NF1):c.6030A>T (p.Val2010=)
|
|
|
NM_001042492.3(NF1):c.6032T>C (p.Leu2011Pro)
|
rs878853906
|
|
NM_001042492.3(NF1):c.6033A>C (p.Leu2011=)
|
rs147995863
|
|
NM_001042492.3(NF1):c.6033A>T (p.Leu2011=)
|
rs147995863
|
|
NM_001042492.3(NF1):c.6034G>C (p.Asp2012His)
|
rs199474783
|
|
NM_001042492.3(NF1):c.6036C>T (p.Asp2012=)
|
|
|
NM_001042492.3(NF1):c.6037A>G (p.Ser2013Gly)
|
rs876658710
|
|
NM_001042492.3(NF1):c.6038G>A (p.Ser2013Asn)
|
rs1567616663
|
|
NM_001042492.3(NF1):c.6039T>C (p.Ser2013=)
|
|
|
NM_001042492.3(NF1):c.603T>C (p.Phe201=)
|
rs1597658060
|
|
NM_001042492.3(NF1):c.603del (p.Phe201fs)
|
rs1135402792
|
|
NM_001042492.3(NF1):c.6040_6041del (p.Phe2014fs)
|
|
|
NM_001042492.3(NF1):c.6041T>G (p.Phe2014Cys)
|
rs1000572454
|
|
NM_001042492.3(NF1):c.6041del (p.Phe2014fs)
|
rs2151553250
|
|
NM_001042492.3(NF1):c.6044T>C (p.Ile2015Thr)
|
rs2069669370
|
|
NM_001042492.3(NF1):c.6045C>A (p.Ile2015=)
|
rs1433863184
|
|
NM_001042492.3(NF1):c.6047A>C (p.Lys2016Thr)
|
|
|
NM_001042492.3(NF1):c.6049del (p.Thr2017fs)
|
|
|
NM_001042492.3(NF1):c.604A>G (p.Lys202Glu)
|
rs2143774078
|
|
NM_001042492.3(NF1):c.6050C>T (p.Thr2017Ile)
|
|
|
NM_001042492.3(NF1):c.6051del (p.Ser2018fs)
|
rs2151553285
|
|
NM_001042492.3(NF1):c.6052A>C (p.Ser2018Arg)
|
rs2151553286
|
|
NM_001042492.3(NF1):c.6053G>A (p.Ser2018Asn)
|
rs2069669492
|
|
NM_001042492.3(NF1):c.6053G>T (p.Ser2018Ile)
|
|
|
NM_001042492.3(NF1):c.6054T>G (p.Ser2018Arg)
|
rs1555534600
|
|
NM_001042492.3(NF1):c.6055G>C (p.Ala2019Pro)
|
rs2069669625
|
|
NM_001042492.3(NF1):c.6056C>T (p.Ala2019Val)
|
rs1567616673
|
|
NM_001042492.3(NF1):c.6058A>G (p.Thr2020Ala)
|
rs1597842258
|
|
NM_001042492.3(NF1):c.6060A>C (p.Thr2020=)
|
rs761889172
|
|
NM_001042492.3(NF1):c.6060_6147+57del
|
rs2151553312
|
|
NM_001042492.3(NF1):c.6061G>A (p.Gly2021Ser)
|
|
|
NM_001042492.3(NF1):c.6061G>T (p.Gly2021Cys)
|
|
|
NM_001042492.3(NF1):c.6062G>A (p.Gly2021Asp)
|
rs1555534605
|
|
NM_001042492.3(NF1):c.6062G>C (p.Gly2021Ala)
|
|
|
NM_001042492.3(NF1):c.6062G>T (p.Gly2021Val)
|
|
|
NM_001042492.3(NF1):c.6064G>C (p.Gly2022Arg)
|
|
|
NM_001042492.3(NF1):c.6066C>T (p.Gly2022=)
|
rs2151553337
|
|
NM_001042492.3(NF1):c.6066_6070dup (p.Gly2024fs)
|
|
|
NM_001042492.3(NF1):c.6067T>C (p.Leu2023=)
|
rs2151553342
|
|
NM_001042492.3(NF1):c.6069G>C (p.Leu2023Phe)
|
rs1555534607
|
|
NM_001042492.3(NF1):c.606del (p.Ala203fs)
|
rs2143774090
|
|
NM_001042492.3(NF1):c.6075A>G (p.Ser2025=)
|
|
|
NM_001042492.3(NF1):c.6076A>G (p.Ile2026Val)
|
rs1376868609
|
|
NM_001042492.3(NF1):c.607G>A (p.Ala203Thr)
|
rs904361724
|
|
NM_001042492.3(NF1):c.607del (p.Ala203fs)
|
rs1567825887
|
|
NM_001042492.3(NF1):c.6081_6083delinsGG (p.Ala2028fs)
|
rs2069670110
|
|
NM_001042492.3(NF1):c.6082G>C (p.Ala2028Pro)
|
rs767869530
|
|
NM_001042492.3(NF1):c.6084T>A (p.Ala2028=)
|
|
|
NM_001042492.3(NF1):c.6087G>A (p.Glu2029=)
|
rs58781141
|
|
NM_001042492.3(NF1):c.608C>G (p.Ala203Gly)
|
|
|
NM_001042492.3(NF1):c.6090dup (p.Met2031fs)
|
rs1555534611
|
|
NM_001042492.3(NF1):c.6091A>T (p.Met2031Leu)
|
|
|
NM_001042492.3(NF1):c.6092T>A (p.Met2031Lys)
|
rs753624907
|
|
NM_001042492.3(NF1):c.6092T>G (p.Met2031Arg)
|
|
|
NM_001042492.3(NF1):c.6096del (p.Asp2033fs)
|
rs2069670563
|
|
NM_001042492.3(NF1):c.609C>T (p.Ala203=)
|
rs2143774168
|
|
NM_001042492.3(NF1):c.61-10T>C
|
|
|
NM_001042492.3(NF1):c.61-11_61-2del
|
rs2065653850
|
|
NM_001042492.3(NF1):c.61-1G>A
|
rs1263745475
|
|
NM_001042492.3(NF1):c.61-1G>T
|
rs1263745475
|
|
NM_001042492.3(NF1):c.61-23T>A
|
|
|
NM_001042492.3(NF1):c.61-2A>C
|
rs1131691100
|
|
NM_001042492.3(NF1):c.61-2A>G
|
rs1131691100
|
|
NM_001042492.3(NF1):c.61-2A>T
|
rs1131691100
|
|
NM_001042492.3(NF1):c.61-3del
|
|
|
NM_001042492.3(NF1):c.61-3dup
|
rs2143625033
|
|
NM_001042492.3(NF1):c.61-4del
|
rs551568608
|
|
NM_001042492.3(NF1):c.61-4dup
|
rs551568608
|
|
NM_001042492.3(NF1):c.61-5T>C
|
|
|
NM_001042492.3(NF1):c.61-6522_204+1022dup
|
|
|
NM_001042492.3(NF1):c.61-7464_61-7440dup
|
|
|
NM_001042492.3(NF1):c.61-7486G>C
|
|
|
NM_001042492.3(NF1):c.61-7486G>T
|
rs1597617010
|
|
NM_001042492.3(NF1):c.61-8T>C
|
rs2143624960
|
|
NM_001042492.3(NF1):c.6100dup (p.Thr2034fs)
|
rs2151553456
|
|
NM_001042492.3(NF1):c.6101C>T (p.Thr2034Ile)
|
rs1567616695
|
|
NM_001042492.3(NF1):c.6102T>C (p.Thr2034=)
|
rs1597842306
|
|
NM_001042492.3(NF1):c.6103G>C (p.Ala2035Pro)
|
|
|
NM_001042492.3(NF1):c.6104C>A (p.Ala2035Asp)
|
rs2151553465
|
|
NM_001042492.3(NF1):c.6105T>A (p.Ala2035=)
|
|
|
NM_001042492.3(NF1):c.6105dup (p.Val2036fs)
|
rs2069670885
|
|
NM_001042492.3(NF1):c.6109G>A (p.Ala2037Thr)
|
rs1555534612
|
|
NM_001042492.3(NF1):c.610C>G (p.Leu204Val)
|
rs1460076498
|
|
NM_001042492.3(NF1):c.610dup (p.Leu204fs)
|
rs1135402793
|
|
NM_001042492.3(NF1):c.6116C>T (p.Ala2039Val)
|
rs1555534614
|
|
NM_001042492.3(NF1):c.6118T>C (p.Ser2040Pro)
|
rs1567616704
|
|
NM_001042492.3(NF1):c.6119C>T (p.Ser2040Phe)
|
rs2069671270
|
|
NM_001042492.3(NF1):c.6119del (p.Ser2040fs)
|
|
|
NM_001042492.3(NF1):c.611del (p.Leu204fs)
|
rs2143774183
|
|
NM_001042492.3(NF1):c.6120T>C (p.Ser2040=)
|
rs2069671357
|
|
NM_001042492.3(NF1):c.6121G>T (p.Gly2041Ter)
|
|
|
NM_001042492.3(NF1):c.6122G>A (p.Gly2041Glu)
|
rs2151553528
|
|
NM_001042492.3(NF1):c.6122G>C (p.Gly2041Ala)
|
|
|
NM_001042492.3(NF1):c.6124A>G (p.Asn2042Asp)
|
rs2151553540
|
|
NM_001042492.3(NF1):c.6125A>G (p.Asn2042Ser)
|
|
|
NM_001042492.3(NF1):c.6126T>C (p.Asn2042=)
|
|
|
NM_001042492.3(NF1):c.6127G>A (p.Val2043Met)
|
|
|
NM_001042492.3(NF1):c.612A>G (p.Leu204=)
|
rs1555608658
|
|
NM_001042492.3(NF1):c.6132A>G (p.Lys2044=)
|
|
|
NM_001042492.3(NF1):c.6133T>C (p.Leu2045=)
|
rs2151553576
|
|
NM_001042492.3(NF1):c.6135G>A (p.Leu2045=)
|
|
|
NM_001042492.3(NF1):c.6137T>C (p.Val2046Ala)
|
|
|
NM_001042492.3(NF1):c.6137T>G (p.Val2046Gly)
|
|
|
NM_001042492.3(NF1):c.6138T>C (p.Val2046=)
|
rs2151553588
|
|
NM_001042492.3(NF1):c.6139del (p.Ser2047fs)
|
rs2069671730
|
|
NM_001042492.3(NF1):c.6141A>C (p.Ser2047=)
|
rs2069671830
|
|
NM_001042492.3(NF1):c.6143G>A (p.Ser2048Asn)
|
rs2151553604
|
|
NM_001042492.3(NF1):c.6145A>T (p.Lys2049Ter)
|
|
|
NM_001042492.3(NF1):c.6146A>T (p.Lys2049Met)
|
|
|
NM_001042492.3(NF1):c.6147+10T>C
|
|
|
NM_001042492.3(NF1):c.6147+12T>C
|
|
|
NM_001042492.3(NF1):c.6147+13C>A
|
rs2069672707
|
|
NM_001042492.3(NF1):c.6147+14T>G
|
|
|
NM_001042492.3(NF1):c.6147+19C>T
|
|
|
NM_001042492.3(NF1):c.6147+19_6147+20insATAT
|
|
|
NM_001042492.3(NF1):c.6147+1G>A
|
rs1060500296
|
|
NM_001042492.3(NF1):c.6147+1G>C
|
rs1060500296
|
|
NM_001042492.3(NF1):c.6147+1G>T
|
rs1060500296
|
|
NM_001042492.3(NF1):c.6147+20C>G
|
|
|
NM_001042492.3(NF1):c.6147+2T>C
|
rs1555534621
|
|
NM_001042492.3(NF1):c.6147+2T>G
|
rs1555534621
|
|
NM_001042492.3(NF1):c.6147+3A>G
|
rs1014307120
|
|
NM_001042492.3(NF1):c.6147+4A>T
|
|
|
NM_001042492.3(NF1):c.6147+5T>A
|
rs1597842332
|
|
NM_001042492.3(NF1):c.6147+5T>C
|
rs1597842332
|
|
NM_001042492.3(NF1):c.6147+5_6147+7del
|
rs2151553635
|
|
NM_001042492.3(NF1):c.6147+7A>G
|
|
|
NM_001042492.3(NF1):c.6147+8C>G
|
rs182709912
|
|
NM_001042492.3(NF1):c.6147+8C>T
|
rs182709912
|
|
NM_001042492.3(NF1):c.6147+9T>G
|
|
|
NM_001042492.3(NF1):c.6147G>A (p.Lys2049=)
|
|
|
NM_001042492.3(NF1):c.6147G>C (p.Lys2049Asn)
|
rs1135402882
|
|
NM_001042492.3(NF1):c.6147G>T (p.Lys2049Asn)
|
|
|
NM_001042492.3(NF1):c.6147_6147+4del
|
rs2069671900
|
|
NM_001042492.3(NF1):c.6148-16T>G
|
rs769223408
|
|
NM_001042492.3(NF1):c.6148-1G>A
|
rs1555534661
|
|
NM_001042492.3(NF1):c.6148-1G>C
|
rs1555534661
|
|
NM_001042492.3(NF1):c.6148-2A>G
|
rs2069681259
|
|
NM_001042492.3(NF1):c.6148-3C>A
|
rs1597842697
|
|
NM_001042492.3(NF1):c.6148-4A>G
|
|
|
NM_001042492.3(NF1):c.6148-4_6148-2del
|
rs2069681044
|
|
NM_001042492.3(NF1):c.6148-5T>C
|
rs1597842678
|
|
NM_001042492.3(NF1):c.6148-5del
|
rs1597842669
|
|
NM_001042492.3(NF1):c.6148-7T>C
|
rs2151554239
|
|
NM_001042492.3(NF1):c.6148-9T>G
|
rs1597842660
|
|
NM_001042492.3(NF1):c.6148G>A (p.Val2050Ile)
|
|
|
NM_001042492.3(NF1):c.6149T>A (p.Val2050Asp)
|
|
|
NM_001042492.3(NF1):c.614A>C (p.Lys205Thr)
|
|
|
NM_001042492.3(NF1):c.614A>G (p.Lys205Arg)
|
rs1555608659
|
|
NM_001042492.3(NF1):c.614del (p.Lys205fs)
|
rs2143774209
|
|
NM_001042492.3(NF1):c.6151A>G (p.Ile2051Val)
|
|
|
NM_001042492.3(NF1):c.6154G>A (p.Gly2052Arg)
|
rs2069681516
|
|
NM_001042492.3(NF1):c.6157A>G (p.Arg2053Gly)
|
|
|
NM_001042492.3(NF1):c.6158G>A (p.Arg2053Lys)
|
rs1060500289
|
|
NM_001042492.3(NF1):c.6158G>C (p.Arg2053Thr)
|
rs1060500289
|
|
NM_001042492.3(NF1):c.6159G>T (p.Arg2053Ser)
|
|
|
NM_001042492.3(NF1):c.615G>A (p.Lys205=)
|
rs1135402794
|
|
NM_001042492.3(NF1):c.6160A>G (p.Met2054Val)
|
rs1037341012
|
|
NM_001042492.3(NF1):c.6160A>T (p.Met2054Leu)
|
rs1037341012
|
|
NM_001042492.3(NF1):c.6161T>C (p.Met2054Thr)
|
rs1555534665
|
|
NM_001042492.3(NF1):c.6162G>A (p.Met2054Ile)
|
rs876660651
|
|
NM_001042492.3(NF1):c.6163T>C (p.Cys2055Arg)
|
|
|
NM_001042492.3(NF1):c.6164G>C (p.Cys2055Ser)
|
rs1597842735
|
|
NM_001042492.3(NF1):c.6165C>A (p.Cys2055Ter)
|
rs2069681958
|
|
NM_001042492.3(NF1):c.6165C>T (p.Cys2055=)
|
|
|
NM_001042492.3(NF1):c.6166A>C (p.Lys2056Gln)
|
rs1555534667
|
|
NM_001042492.3(NF1):c.6166A>T (p.Lys2056Ter)
|
rs1555534667
|
|
NM_001042492.3(NF1):c.6169A>G (p.Ile2057Val)
|
|
|
NM_001042492.3(NF1):c.616A>G (p.Lys206Glu)
|
rs1060500269
|
|
NM_001042492.3(NF1):c.616A>T (p.Lys206Ter)
|
|
|
NM_001042492.3(NF1):c.6174del (p.Ile2058fs)
|
rs1567616894
|
|
NM_001042492.3(NF1):c.6175G>A (p.Asp2059Asn)
|
rs761029453
|
|
NM_001042492.3(NF1):c.6178_6179del (p.Lys2060fs)
|
|
|
NM_001042492.3(NF1):c.6179A>G (p.Lys2060Arg)
|
rs1597842757
|
|
NM_001042492.3(NF1):c.6179_6183dup (p.Cys2062fs)
|
|
|
NM_001042492.3(NF1):c.6182_6183insGGCCGCGCCGGCGAGCGCCGCCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAATAATTGACAAGAC (p.Thr2061_Cys2062insAlaAlaProAlaSerAlaAlaArgGluAlaAlaAlaGlyGlyAlaAspGlyProArgGlyAlaXaaXaaXaaXaaLysLysLysLysLysLysLysAsnAsnTer)
|
|
|
NM_001042492.3(NF1):c.6183A>G (p.Thr2061=)
|
rs1225702258
|
|
NM_001042492.3(NF1):c.6183A>T (p.Thr2061=)
|
rs1225702258
|
|
NM_001042492.3(NF1):c.6185G>C (p.Cys2062Ser)
|
rs1555534668
|
|
NM_001042492.3(NF1):c.6186C>A (p.Cys2062Ter)
|
rs1555534669
|
|
NM_001042492.3(NF1):c.6186C>T (p.Cys2062=)
|
rs1555534669
|
|
NM_001042492.3(NF1):c.6186_6187insG (p.Leu2063fs)
|
rs2069682584
|
|
NM_001042492.3(NF1):c.6187T>C (p.Leu2063=)
|
|
|
NM_001042492.3(NF1):c.618G>A (p.Lys206=)
|
rs1567825917
|
|
NM_001042492.3(NF1):c.618G>C (p.Lys206Asn)
|
rs1567825917
|
|
NM_001042492.3(NF1):c.6190T>C (p.Ser2064Pro)
|
|
|
NM_001042492.3(NF1):c.6191C>T (p.Ser2064Phe)
|
rs2069682819
|
|
NM_001042492.3(NF1):c.6195A>C (p.Pro2065=)
|
rs1060503920
|
|
NM_001042492.3(NF1):c.6196A>G (p.Thr2066Ala)
|
rs1567616928
|
|
NM_001042492.3(NF1):c.6196A>T (p.Thr2066Ser)
|
|
|
NM_001042492.3(NF1):c.6197del (p.Thr2066fs)
|
rs1135402883
|
|
NM_001042492.3(NF1):c.6199C>T (p.Pro2067Ser)
|
|
|
NM_001042492.3(NF1):c.61C>G (p.Leu21Val)
|
rs779453629
|
|
NM_001042492.3(NF1):c.6200C>A (p.Pro2067His)
|
rs2151554428
|
|
NM_001042492.3(NF1):c.6200del (p.Pro2067fs)
|
|
|
NM_001042492.3(NF1):c.6201T>C (p.Pro2067=)
|
rs1555534671
|
|
NM_001042492.3(NF1):c.6203C>G (p.Thr2068Ser)
|
rs876659172
|
|
NM_001042492.3(NF1):c.6204_6211del (p.Leu2069fs)
|
rs2151554438
|
|
NM_001042492.3(NF1):c.6206T>A (p.Leu2069Ter)
|
|
|
NM_001042492.3(NF1):c.6206T>G (p.Leu2069Ter)
|
rs2151554452
|
|
NM_001042492.3(NF1):c.6207A>G (p.Leu2069=)
|
rs1597842793
|
|
NM_001042492.3(NF1):c.6208G>T (p.Glu2070Ter)
|
|
|
NM_001042492.3(NF1):c.6210_6213del (p.Glu2070fs)
|
|
|
NM_001042492.3(NF1):c.6211C>T (p.Gln2071Ter)
|
rs1135402884
|
|
NM_001042492.3(NF1):c.6212A>G (p.Gln2071Arg)
|
rs1597842800
|
|
NM_001042492.3(NF1):c.6213A>G (p.Gln2071=)
|
rs1060503910
|
|
NM_001042492.3(NF1):c.6213del (p.Gln2071fs)
|
|
|
NM_001042492.3(NF1):c.6214C>T (p.His2072Tyr)
|
|
|
NM_001042492.3(NF1):c.6217C>T (p.Leu2073Phe)
|
rs1026776734
|
|
NM_001042492.3(NF1):c.6220A>T (p.Met2074Leu)
|
|
|
NM_001042492.3(NF1):c.6220dup (p.Met2074fs)
|
rs1555534673
|
|
NM_001042492.3(NF1):c.6221del (p.Met2074fs)
|
rs2069683635
|
|
NM_001042492.3(NF1):c.6224G>A (p.Trp2075Ter)
|
rs2151554507
|
|
NM_001042492.3(NF1):c.6225G>A (p.Trp2075Ter)
|
rs1555534677
|
|
NM_001042492.3(NF1):c.6227A>G (p.Asp2076Gly)
|
rs1597842820
|
|
NM_001042492.3(NF1):c.6227_6228dup (p.Asp2077fs)
|
rs1555534680
|
|
NM_001042492.3(NF1):c.6228T>C (p.Asp2076=)
|
rs1555534682
|
|
NM_001042492.3(NF1):c.6229G>T (p.Asp2077Tyr)
|
rs1597842830
|
|
NM_001042492.3(NF1):c.622G>A (p.Ala208Thr)
|
|
|
NM_001042492.3(NF1):c.6230A>G (p.Asp2077Gly)
|
rs1555534684
|
|
NM_001042492.3(NF1):c.6230A>T (p.Asp2077Val)
|
rs1555534684
|
|
NM_001042492.3(NF1):c.6231T>C (p.Asp2077=)
|
rs1398569642
|
|
NM_001042492.3(NF1):c.6236del (p.Ala2079fs)
|
|
|
NM_001042492.3(NF1):c.6237T>C (p.Ala2079=)
|
rs2151554552
|
|
NM_001042492.3(NF1):c.6238A>G (p.Ile2080Val)
|
rs2069684102
|
|
NM_001042492.3(NF1):c.6242T>C (p.Leu2081Ser)
|
rs2069684176
|
|
NM_001042492.3(NF1):c.6242T>G (p.Leu2081Ter)
|
|
|
NM_001042492.3(NF1):c.6243A>G (p.Leu2081=)
|
|
|
NM_001042492.3(NF1):c.6246del (p.Arg2083fs)
|
rs1597842843
|
|
NM_001042492.3(NF1):c.6247C>T (p.Arg2083Cys)
|
|
|
NM_001042492.3(NF1):c.6249C>G (p.Arg2083=)
|
rs1567616975
|
|
NM_001042492.3(NF1):c.6249del (p.Tyr2084fs)
|
rs2151554607
|
|
NM_001042492.3(NF1):c.624G>A (p.Ala208=)
|
rs370184932
|
|
NM_001042492.3(NF1):c.624_632del (p.Gln209_Ala211del)
|
rs1555608666
|
|
NM_001042492.3(NF1):c.6251A>G (p.Tyr2084Cys)
|
|
|
NM_001042492.3(NF1):c.6251_6257del (p.Arg2083_Tyr2084insTer)
|
rs2151554602
|
|
NM_001042492.3(NF1):c.6252C>A (p.Tyr2084Ter)
|
rs2069684411
|
|
NM_001042492.3(NF1):c.6252C>G (p.Tyr2084Ter)
|
|
|
NM_001042492.3(NF1):c.6252C>T (p.Tyr2084=)
|
|
|
NM_001042492.3(NF1):c.6254_6266del (p.Met2085fs)
|
|
|
NM_001042492.3(NF1):c.6254del (p.Met2085fs)
|
|
|
NM_001042492.3(NF1):c.6258G>A (p.Leu2086=)
|
|
|
NM_001042492.3(NF1):c.625C>T (p.Gln209Ter)
|
rs786203448
|
|
NM_001042492.3(NF1):c.6260del (p.Met2087fs)
|
|
|
NM_001042492.3(NF1):c.6261dup (p.Leu2088fs)
|
|
|
NM_001042492.3(NF1):c.6262C>T (p.Leu2088=)
|
rs752569823
|
|
NM_001042492.3(NF1):c.6264G>C (p.Leu2088=)
|
rs762751192
|
|
NM_001042492.3(NF1):c.6267C>T (p.Ser2089=)
|
rs1597842870
|
|
NM_001042492.3(NF1):c.6268T>C (p.Phe2090Leu)
|
rs2069685496
|
|
NM_001042492.3(NF1):c.6268_6279del (p.Phe2090_Ser2093del)
|
rs2151554649
|
|
NM_001042492.3(NF1):c.6270C>T (p.Phe2090=)
|
|
|
NM_001042492.3(NF1):c.6270dup (p.Asn2091fs)
|
|
|
NM_001042492.3(NF1):c.6272A>G (p.Asn2091Ser)
|
rs1555534696
|
|
NM_001042492.3(NF1):c.6272A>T (p.Asn2091Ile)
|
|
|
NM_001042492.3(NF1):c.6273del (p.Asn2091fs)
|
|
|
NM_001042492.3(NF1):c.6275del (p.Asn2092fs)
|
rs1555534697
|
|
NM_001042492.3(NF1):c.6276T>G (p.Asn2092Lys)
|
rs2069685829
|
|
NM_001042492.3(NF1):c.6276_6279dup (p.Leu2094fs)
|
|
|
NM_001042492.3(NF1):c.6278C>G (p.Ser2093Cys)
|
rs1555534698
|
|
NM_001042492.3(NF1):c.6278_6288del (p.Ser2093fs)
|
|
|
NM_001042492.3(NF1):c.6279C>T (p.Ser2093=)
|
rs1055695069
|
|
NM_001042492.3(NF1):c.627G>A (p.Gln209=)
|
rs1060503919
|
|
NM_001042492.3(NF1):c.627_628insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAGGTTGCGCAG (p.Leu210delinsAlaGlyArgGlyGlySerArgLeuTer)
|
rs2143774220
|
|
NM_001042492.3(NF1):c.6280C>T (p.Leu2094Phe)
|
rs2069686019
|
|
NM_001042492.3(NF1):c.6282T>C (p.Leu2094=)
|
|
|
NM_001042492.3(NF1):c.6282T>G (p.Leu2094=)
|
rs2151554690
|
|
NM_001042492.3(NF1):c.6283G>A (p.Asp2095Asn)
|
rs1254820959
|
|
NM_001042492.3(NF1):c.6283G>T (p.Asp2095Tyr)
|
|
|
NM_001042492.3(NF1):c.6285T>C (p.Asp2095=)
|
|
|
NM_001042492.3(NF1):c.6288G>A (p.Val2096=)
|
rs786203541
|
|
NM_001042492.3(NF1):c.6289G>T (p.Ala2097Ser)
|
|
|
NM_001042492.3(NF1):c.6292G>A (p.Ala2098Thr)
|
rs894460960
|
|
NM_001042492.3(NF1):c.6292G>C (p.Ala2098Pro)
|
rs894460960
|
|
NM_001042492.3(NF1):c.6293C>T (p.Ala2098Val)
|
rs764106639
|
|
NM_001042492.3(NF1):c.6295C>G (p.His2099Asp)
|
|
|
NM_001042492.3(NF1):c.6295C>T (p.His2099Tyr)
|
rs1060500382
|
|
NM_001042492.3(NF1):c.6296A>G (p.His2099Arg)
|
|
|
NM_001042492.3(NF1):c.6296A>T (p.His2099Leu)
|
|
|
NM_001042492.3(NF1):c.6296dup (p.His2099fs)
|
|
|
NM_001042492.3(NF1):c.6298C>A (p.Leu2100Ile)
|
rs2069686615
|
|
NM_001042492.3(NF1):c.6298C>G (p.Leu2100Val)
|
|
|
NM_001042492.3(NF1):c.6299T>A (p.Leu2100His)
|
|
|
NM_001042492.3(NF1):c.6299T>C (p.Leu2100Pro)
|
rs1555534708
|
|
NM_001042492.3(NF1):c.6299T>G (p.Leu2100Arg)
|
rs1555534708
|
|
NM_001042492.3(NF1):c.6299_6304del (p.Leu2100_Tyr2102delinsHis)
|
|
|
NM_001042492.3(NF1):c.6299_6305dup (p.Leu2103fs)
|
|
|
NM_001042492.3(NF1):c.629T>A (p.Leu210Ter)
|
|
|
NM_001042492.3(NF1):c.629T>G (p.Leu210Ter)
|
rs876658570
|
|
NM_001042492.3(NF1):c.62T>A (p.Leu21His)
|
rs1567814403
|
|
NM_001042492.3(NF1):c.62T>C (p.Leu21Pro)
|
rs1567814403
|
|
NM_001042492.3(NF1):c.6300T>C (p.Leu2100=)
|
rs876660236
|
|
NM_001042492.3(NF1):c.6302C>T (p.Pro2101Leu)
|
rs756746198
|
|
NM_001042492.3(NF1):c.6303C>G (p.Pro2101=)
|
|
|
NM_001042492.3(NF1):c.6303C>T (p.Pro2101=)
|
rs1161009317
|
|
NM_001042492.3(NF1):c.6304dup (p.Tyr2102fs)
|
rs1555534712
|
|
NM_001042492.3(NF1):c.6305A>G (p.Tyr2102Cys)
|
|
|
NM_001042492.3(NF1):c.6306C>A (p.Tyr2102Ter)
|
|
|
NM_001042492.3(NF1):c.6306C>T (p.Tyr2102=)
|
|
|
NM_001042492.3(NF1):c.6307C>A (p.Leu2103Ile)
|
|
|
NM_001042492.3(NF1):c.6307C>T (p.Leu2103Phe)
|
rs1555534719
|
|
NM_001042492.3(NF1):c.6307del (p.Leu2103fs)
|
rs1131691125
|
|
NM_001042492.3(NF1):c.6307dup (p.Leu2103fs)
|
rs1131691125
|
|
NM_001042492.3(NF1):c.6308T>A (p.Leu2103His)
|
rs2069687450
|
|
NM_001042492.3(NF1):c.6308T>C (p.Leu2103Pro)
|
rs2069687450
|
|
NM_001042492.3(NF1):c.6309C>T (p.Leu2103=)
|
rs2151554779
|
|
NM_001042492.3(NF1):c.630A>G (p.Leu210=)
|
|
|
NM_001042492.3(NF1):c.630dup (p.Ala211fs)
|
rs2066132105
|
|
NM_001042492.3(NF1):c.6310T>C (p.Phe2104Leu)
|
rs876660000
|
|
NM_001042492.3(NF1):c.6312C>G (p.Phe2104Leu)
|
rs780728198
|
|
NM_001042492.3(NF1):c.6312C>T (p.Phe2104=)
|
|
|
NM_001042492.3(NF1):c.6312_6313del (p.Phe2104fs)
|
|
|
NM_001042492.3(NF1):c.6314A>C (p.His2105Pro)
|
rs1555534726
|
|
NM_001042492.3(NF1):c.6316G>C (p.Val2106Leu)
|
rs755791578
|
|
NM_001042492.3(NF1):c.6316_6359dup (p.Ala2120_Ser2121insLeuLeuLeuSerTer)
|
rs1567617045
|
|
NM_001042492.3(NF1):c.6318T>A (p.Val2106=)
|
|
|
NM_001042492.3(NF1):c.6319G>A (p.Val2107Ile)
|
rs2151554822
|
|
NM_001042492.3(NF1):c.6319_6320del (p.Val2107fs)
|
|
|
NM_001042492.3(NF1):c.631_632dup (p.Val212fs)
|
|
|
NM_001042492.3(NF1):c.6320T>A (p.Val2107Asp)
|
|
|
NM_001042492.3(NF1):c.6322dup (p.Thr2108fs)
|
rs2069687965
|
|
NM_001042492.3(NF1):c.6323C>T (p.Thr2108Ile)
|
rs876658920
|
|
NM_001042492.3(NF1):c.6324T>C (p.Thr2108=)
|
rs1555534728
|
|
NM_001042492.3(NF1):c.6326del (p.Phe2109fs)
|
rs1135402885
|
|
NM_001042492.3(NF1):c.6327C>G (p.Phe2109Leu)
|
rs2069688250
|
|
NM_001042492.3(NF1):c.6327dup (p.Val2111fs)
|
|
|
NM_001042492.3(NF1):c.6329T>A (p.Leu2110Ter)
|
|
|
NM_001042492.3(NF1):c.632C>T (p.Ala211Val)
|
rs1555608675
|
|
NM_001042492.3(NF1):c.6333A>G (p.Val2111=)
|
rs876660592
|
|
NM_001042492.3(NF1):c.6333A>T (p.Val2111=)
|
rs876660592
|
|
NM_001042492.3(NF1):c.6333_6334insACAACCTGTG (p.Ala2112fs)
|
|
|
NM_001042492.3(NF1):c.6336C>T (p.Ala2112=)
|
rs2151554865
|
|
NM_001042492.3(NF1):c.6338C>A (p.Thr2113Lys)
|
rs768982249
|
|
NM_001042492.3(NF1):c.6338C>T (p.Thr2113Ile)
|
rs768982249
|
|
NM_001042492.3(NF1):c.6339A>G (p.Thr2113=)
|
|
|
NM_001042492.3(NF1):c.633A>G (p.Ala211=)
|
rs876660800
|
|
NM_001042492.3(NF1):c.633del (p.Val212fs)
|
|
|
NM_001042492.3(NF1):c.633dup (p.Val212fs)
|
|
|
NM_001042492.3(NF1):c.6340G>T (p.Gly2114Cys)
|
rs1567617070
|
|
NM_001042492.3(NF1):c.6341_6342del (p.Gly2114fs)
|
rs1597843052
|
|
NM_001042492.3(NF1):c.6343_6344dup (p.Leu2116fs)
|
|
|
NM_001042492.3(NF1):c.6344C>T (p.Pro2115Leu)
|
rs867091831
|
|
NM_001042492.3(NF1):c.6344_6345insAGAG (p.Leu2116fs)
|
|
|
NM_001042492.3(NF1):c.6345G>T (p.Pro2115=)
|
rs779475182
|
|
NM_001042492.3(NF1):c.6348C>G (p.Leu2116=)
|
rs748725395
|
|
NM_001042492.3(NF1):c.6348C>T (p.Leu2116=)
|
rs748725395
|
|
NM_001042492.3(NF1):c.634G>A (p.Val212Ile)
|
rs2143774495
|
|
NM_001042492.3(NF1):c.6350C>T (p.Ser2117Phe)
|
|
|
NM_001042492.3(NF1):c.6351C>G (p.Ser2117=)
|
|
|
NM_001042492.3(NF1):c.6352del (p.Arg2119fs)
|
|
|
NM_001042492.3(NF1):c.6354T>G (p.Leu2118=)
|
rs1487199130
|
|
NM_001042492.3(NF1):c.6354_6355insGTCCCTT (p.Arg2119delinsValProTer)
|
|
|
NM_001042492.3(NF1):c.6354del (p.Arg2119fs)
|
|
|
NM_001042492.3(NF1):c.6355A>T (p.Arg2119Ter)
|
rs2151554939
|
|
NM_001042492.3(NF1):c.6355dup (p.Arg2119fs)
|
|
|
NM_001042492.3(NF1):c.6356_6357insTA (p.Arg2119fs)
|
|
|
NM_001042492.3(NF1):c.6356_6360del (p.Arg2119fs)
|
rs2069689101
|
|
NM_001042492.3(NF1):c.6360_6363dup (p.Thr2122fs)
|
rs1597843096
|
|
NM_001042492.3(NF1):c.6361del (p.Ser2121fs)
|
rs2069689307
|
|
NM_001042492.3(NF1):c.6362_6363delinsAA (p.Ser2121Ter)
|
|
|
NM_001042492.3(NF1):c.6363C>G (p.Ser2121=)
|
rs1555534749
|
|
NM_001042492.3(NF1):c.6364A>G (p.Thr2122Ala)
|
rs139387354
|
|
NM_001042492.3(NF1):c.6365C>T (p.Thr2122Ile)
|
rs878853907
|
|
NM_001042492.3(NF1):c.6365_6366insGG (p.His2123fs)
|
rs1555534751
|
|
NM_001042492.3(NF1):c.6366A>C (p.Thr2122=)
|
|
|
NM_001042492.3(NF1):c.6366A>G (p.Thr2122=)
|
rs876657547
|
|
NM_001042492.3(NF1):c.6368A>G (p.His2123Arg)
|
rs112546213
|
|
NM_001042492.3(NF1):c.6368A>T (p.His2123Leu)
|
rs112546213
|
|
NM_001042492.3(NF1):c.636T>C (p.Val212=)
|
rs1361259662
|
|
NM_001042492.3(NF1):c.6371del (p.Gly2124fs)
|
|
|
NM_001042492.3(NF1):c.6372_6373del (p.Leu2125fs)
|
|
|
NM_001042492.3(NF1):c.6373C>G (p.Leu2125Val)
|
rs786204236
|
|
NM_001042492.3(NF1):c.6374T>A (p.Leu2125Gln)
|
|
|
NM_001042492.3(NF1):c.6374T>C (p.Leu2125Pro)
|
rs1597843129
|
|
NM_001042492.3(NF1):c.6374T>G (p.Leu2125Arg)
|
rs1597843129
|
|
NM_001042492.3(NF1):c.6376G>A (p.Val2126Ile)
|
rs1567617114
|
|
NM_001042492.3(NF1):c.6377T>G (p.Val2126Gly)
|
rs1597843145
|
|
NM_001042492.3(NF1):c.6378C>G (p.Val2126=)
|
|
|
NM_001042492.3(NF1):c.6379_6385del (p.Ile2127fs)
|
|
|
NM_001042492.3(NF1):c.637A>G (p.Ile213Val)
|
rs2066132329
|
|
NM_001042492.3(NF1):c.637dup (p.Ile213fs)
|
|
|
NM_001042492.3(NF1):c.6382A>T (p.Asn2128Tyr)
|
rs2151555041
|
|
NM_001042492.3(NF1):c.6383dup (p.Asn2128fs)
|
|
|
NM_001042492.3(NF1):c.6385A>G (p.Ile2129Val)
|
rs2151555054
|
|
NM_001042492.3(NF1):c.6385dup (p.Ile2129fs)
|
|
|
NM_001042492.3(NF1):c.6386T>C (p.Ile2129Thr)
|
rs1287981187
|
|
NM_001042492.3(NF1):c.6387C>T (p.Ile2129=)
|
rs786203078
|
|
NM_001042492.3(NF1):c.6388A>C (p.Ile2130Leu)
|
rs2069690351
|
|
NM_001042492.3(NF1):c.6392dup (p.His2131fs)
|
|
|
NM_001042492.3(NF1):c.6394T>C (p.Ser2132Pro)
|
rs2151555087
|
|
NM_001042492.3(NF1):c.6396T>G (p.Ser2132=)
|
rs1555534764
|
|
NM_001042492.3(NF1):c.6397C>T (p.Leu2133=)
|
|
|
NM_001042492.3(NF1):c.6397_6398del (p.Leu2133fs)
|
rs1567617129
|
|
NM_001042492.3(NF1):c.6397del (p.Leu2133fs)
|
|
|
NM_001042492.3(NF1):c.6398T>A (p.Leu2133Gln)
|
|
|
NM_001042492.3(NF1):c.6398T>C (p.Leu2133Pro)
|
rs2069690617
|
|
NM_001042492.3(NF1):c.6398T>G (p.Leu2133Arg)
|
rs2069690617
|
|
NM_001042492.3(NF1):c.6399G>A (p.Leu2133=)
|
rs1448544243
|
|
NM_001042492.3(NF1):c.6400T>C (p.Cys2134Arg)
|
|
|
NM_001042492.3(NF1):c.6400T>G (p.Cys2134Gly)
|
|
|
NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs)
|
rs1597843186
|
|
NM_001042492.3(NF1):c.6402T>A (p.Cys2134Ter)
|
rs1555534766
|
|
NM_001042492.3(NF1):c.6402del (p.Leu2133_Cys2134insTer)
|
|
|
NM_001042492.3(NF1):c.6403A>C (p.Thr2135Pro)
|
rs1555534767
|
|
NM_001042492.3(NF1):c.6403A>G (p.Thr2135Ala)
|
|
|
NM_001042492.3(NF1):c.6404C>T (p.Thr2135Ile)
|
rs1555534770
|
|
NM_001042492.3(NF1):c.6407_6408del (p.Cys2136fs)
|
rs2069691007
|
|
NM_001042492.3(NF1):c.6407_6422del (p.Cys2136fs)
|
rs2151555120
|
|
NM_001042492.3(NF1):c.640A>C (p.Asn214His)
|
rs2143774553
|
|
NM_001042492.3(NF1):c.6410C>A (p.Ser2137Ter)
|
rs2069691055
|
|
NM_001042492.3(NF1):c.6410C>G (p.Ser2137Ter)
|
rs2069691055
|
|
NM_001042492.3(NF1):c.6412C>T (p.Gln2138Ter)
|
rs2069691114
|
|
NM_001042492.3(NF1):c.6415C>T (p.Leu2139Phe)
|
|
|
NM_001042492.3(NF1):c.6416T>C (p.Leu2139Pro)
|
|
|
NM_001042492.3(NF1):c.641A>G (p.Asn214Ser)
|
rs746291745
|
|
NM_001042492.3(NF1):c.641del (p.Asn214fs)
|
|
|
NM_001042492.3(NF1):c.641dup (p.Asn214fs)
|
|
|
NM_001042492.3(NF1):c.6421T>G (p.Phe2141Val)
|
rs2069691314
|
|
NM_001042492.3(NF1):c.6424A>C (p.Ser2142Arg)
|
rs1135402886
|
|
NM_001042492.3(NF1):c.6425G>A (p.Ser2142Asn)
|
rs876658896
|
|
NM_001042492.3(NF1):c.6425del (p.Ser2142fs)
|
rs2069691466
|
|
NM_001042492.3(NF1):c.6426T>C (p.Ser2142=)
|
rs1060500251
|
|
NM_001042492.3(NF1):c.6427+10del
|
|
|
NM_001042492.3(NF1):c.6427+1G>A
|
rs2151555200
|
|
NM_001042492.3(NF1):c.6427+1G>C
|
|
|
NM_001042492.3(NF1):c.6427+1del
|
|
|
NM_001042492.3(NF1):c.6427+2T>C
|
rs1567617158
|
|
NM_001042492.3(NF1):c.6427+2T>G
|
rs1567617158
|
|
NM_001042492.3(NF1):c.6427+3A>G
|
|
|
NM_001042492.3(NF1):c.6427+4A>G
|
|
|
NM_001042492.3(NF1):c.6427+5G>A
|
rs1060500311
|
|
NM_001042492.3(NF1):c.6427+5G>C
|
rs1060500311
|
|
NM_001042492.3(NF1):c.6427+5G>T
|
|
|
NM_001042492.3(NF1):c.6427+7T>C
|
|
|
NM_001042492.3(NF1):c.6427+8C>A
|
rs864622598
|
|
NM_001042492.3(NF1):c.6427+8C>G
|
|
|
NM_001042492.3(NF1):c.6427+8C>T
|
rs864622598
|
|
NM_001042492.3(NF1):c.6427G>A (p.Glu2143Lys)
|
rs1555534775
|
|
NM_001042492.3(NF1):c.6428-10T>G
|
rs2151555897
|
|
NM_001042492.3(NF1):c.6428-13del
|
|
|
NM_001042492.3(NF1):c.6428-16C>G
|
|
|
NM_001042492.3(NF1):c.6428-16del
|
rs775290769
|
|
NM_001042492.3(NF1):c.6428-17C>A
|
|
|
NM_001042492.3(NF1):c.6428-17C>G
|
rs2069702311
|
|
NM_001042492.3(NF1):c.6428-17C>T
|
|
|
NM_001042492.3(NF1):c.6428-1G>A
|
rs747100254
|
|
NM_001042492.3(NF1):c.6428-1G>T
|
rs747100254
|
|
NM_001042492.3(NF1):c.6428-1_6428del
|
|
|
NM_001042492.3(NF1):c.6428-1del
|
|
|
NM_001042492.3(NF1):c.6428-20G>A
|
rs897880244
|
|
NM_001042492.3(NF1):c.6428-20G>C
|
|
|
NM_001042492.3(NF1):c.6428-20G>T
|
|
|
NM_001042492.3(NF1):c.6428-2A>C
|
rs1060500312
|
|
NM_001042492.3(NF1):c.6428-2A>G
|
rs1060500312
|
|
NM_001042492.3(NF1):c.6428-2A>T
|
|
|
NM_001042492.3(NF1):c.6428-3C>A
|
rs374014162
|
|
NM_001042492.3(NF1):c.6428-3C>G
|
rs374014162
|
|
NM_001042492.3(NF1):c.6428-3del
|
rs1597843640
|
|
NM_001042492.3(NF1):c.6428-4A>G
|
rs1597843630
|
|
NM_001042492.3(NF1):c.6428-4A>T
|
rs1597843630
|
|
NM_001042492.3(NF1):c.6428-5T>C
|
rs1597843627
|
|
NM_001042492.3(NF1):c.6428-6T>C
|
rs772738883
|
|
NM_001042492.3(NF1):c.6428-7C>G
|
rs1597843613
|
|
NM_001042492.3(NF1):c.6428-7C>T
|
rs1597843613
|
|
NM_001042492.3(NF1):c.6428-9C>A
|
|
|
NM_001042492.3(NF1):c.6428-9C>T
|
rs1418018519
|
|
NM_001042492.3(NF1):c.642T>C (p.Asn214=)
|
rs2143774575
|
|
NM_001042492.3(NF1):c.6430G>A (p.Glu2144Lys)
|
|
|
NM_001042492.3(NF1):c.6430G>C (p.Glu2144Gln)
|
|
|
NM_001042492.3(NF1):c.6430del (p.Glu2144fs)
|
|
|
NM_001042492.3(NF1):c.6431A>G (p.Glu2144Gly)
|
rs2069703452
|
|
NM_001042492.3(NF1):c.6432G>A (p.Glu2144=)
|
rs2151555941
|
|
NM_001042492.3(NF1):c.6432G>T (p.Glu2144Asp)
|
|
|
NM_001042492.3(NF1):c.6434C>T (p.Thr2145Ile)
|
rs1597843658
|
|
NM_001042492.3(NF1):c.6435del (p.Lys2146fs)
|
|
|
NM_001042492.3(NF1):c.6436A>T (p.Lys2146Ter)
|
rs1597843675
|
|
NM_001042492.3(NF1):c.6437A>G (p.Lys2146Arg)
|
rs1597843678
|
|
NM_001042492.3(NF1):c.6439C>A (p.Gln2147Lys)
|
rs1555534859
|
|
NM_001042492.3(NF1):c.6439C>T (p.Gln2147Ter)
|
rs1555534859
|
|
NM_001042492.3(NF1):c.6439_6442del (p.Gln2147fs)
|
|
|
NM_001042492.3(NF1):c.643A>T (p.Ser215Cys)
|
rs1331838002
|
|
NM_001042492.3(NF1):c.6441A>G (p.Gln2147=)
|
|
|
NM_001042492.3(NF1):c.6444T>G (p.Val2148=)
|
|
|
NM_001042492.3(NF1):c.6446T>A (p.Leu2149Ter)
|
|
|
NM_001042492.3(NF1):c.6446_6447insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTGTATGACCAAGCAAGTTTT (p.Leu2149delinsPhePhePhePhePhePhePheXaaXaaXaaXaaAlaIleLeuLeuProGlnProProLysTer)
|
|
|
NM_001042492.3(NF1):c.6446del (p.Val2148_Leu2149insTer)
|
|
|
NM_001042492.3(NF1):c.6448A>C (p.Arg2150=)
|
|
|
NM_001042492.3(NF1):c.6449_6460del (p.Arg2150_Leu2153del)
|
rs1555534860
|
|
NM_001042492.3(NF1):c.644G>A (p.Ser215Asn)
|
rs2143774620
|
|
NM_001042492.3(NF1):c.6452_6456delinsA (p.Leu2151fs)
|
rs1135402887
|
|
NM_001042492.3(NF1):c.6452del (p.Leu2151fs)
|
|
|
NM_001042492.3(NF1):c.6453C>A (p.Leu2151=)
|
rs1597843719
|
|
NM_001042492.3(NF1):c.6453C>T (p.Leu2151=)
|
rs1597843719
|
|
NM_001042492.3(NF1):c.6454A>G (p.Ser2152Gly)
|
|
|
NM_001042492.3(NF1):c.6455_6461del (p.Ser2152fs)
|
|
|
NM_001042492.3(NF1):c.6458T>C (p.Leu2153Pro)
|
rs2069704188
|
|
NM_001042492.3(NF1):c.6462dup (p.Glu2155fs)
|
rs1135402888
|
|
NM_001042492.3(NF1):c.6463G>T (p.Glu2155Ter)
|
|
|
NM_001042492.3(NF1):c.6464_6465del (p.Glu2155fs)
|
|
|
NM_001042492.3(NF1):c.6465G>A (p.Glu2155=)
|
rs1394945517
|
|
NM_001042492.3(NF1):c.6466T>C (p.Phe2156Leu)
|
|
|
NM_001042492.3(NF1):c.646C>G (p.Leu216Val)
|
rs1597658201
|
|
NM_001042492.3(NF1):c.646C>T (p.Leu216=)
|
rs1597658201
|
|
NM_001042492.3(NF1):c.6470C>A (p.Ser2157Ter)
|
|
|
NM_001042492.3(NF1):c.6470C>G (p.Ser2157Ter)
|
|
|
NM_001042492.3(NF1):c.6471A>G (p.Ser2157=)
|
rs2151556082
|
|
NM_001042492.3(NF1):c.6471A>T (p.Ser2157=)
|
rs2151556082
|
|
NM_001042492.3(NF1):c.6472T>C (p.Leu2158=)
|
rs1597843758
|
|
NM_001042492.3(NF1):c.6473T>A (p.Leu2158Ter)
|
rs2151556088
|
|
NM_001042492.3(NF1):c.6475C>T (p.Pro2159Ser)
|
rs2151556095
|
|
NM_001042492.3(NF1):c.6476C>G (p.Pro2159Arg)
|
|
|
NM_001042492.3(NF1):c.6477C>T (p.Pro2159=)
|
|
|
NM_001042492.3(NF1):c.6477del (p.Lys2160fs)
|
rs2151556101
|
|
NM_001042492.3(NF1):c.6478A>C (p.Lys2160Gln)
|
rs2151556114
|
|
NM_001042492.3(NF1):c.6479A>G (p.Lys2160Arg)
|
rs2151556119
|
|
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.6480A>T (p.Lys2160Asn)
|
|
|
NM_001042492.3(NF1):c.6486C>A (p.Tyr2162Ter)
|
rs2069704625
|
|
NM_001042492.3(NF1):c.6486C>G (p.Tyr2162Ter)
|
rs2069704625
|
|
NM_001042492.3(NF1):c.6487_6488del (p.Leu2163fs)
|
rs1060500338
|
|
NM_001042492.3(NF1):c.6488T>A (p.Leu2163Ter)
|
rs1353492847
|
|
NM_001042492.3(NF1):c.6488T>C (p.Leu2163Ser)
|
rs1353492847
|
|
NM_001042492.3(NF1):c.6488del (p.Leu2163fs)
|
rs2151556143
|
|
NM_001042492.3(NF1):c.6489G>C (p.Leu2163Phe)
|
rs2151556147
|
|
NM_001042492.3(NF1):c.648G>A (p.Leu216=)
|
rs2143774676
|
|
NM_001042492.3(NF1):c.6490C>A (p.Leu2164Met)
|
rs137854551
|
|
NM_001042492.3(NF1):c.6491dup (p.Phe2165fs)
|
|
|
NM_001042492.3(NF1):c.6492dup (p.Phe2165fs)
|
rs2151556162
|
|
NM_001042492.3(NF1):c.6495del (p.Phe2165fs)
|
rs2151556165
|
|
NM_001042492.3(NF1):c.6499A>C (p.Ile2167Leu)
|
rs2069704731
|
|
NM_001042492.3(NF1):c.6499A>T (p.Ile2167Phe)
|
|
|
NM_001042492.3(NF1):c.649G>T (p.Glu217Ter)
|
rs878853909
|
|
NM_001042492.3(NF1):c.64C>G (p.Pro22Ala)
|
rs1597625794
|
|
NM_001042492.3(NF1):c.64C>T (p.Pro22Ser)
|
rs1597625794
|
|
NM_001042492.3(NF1):c.6503del (p.Ser2168fs)
|
rs1597843782
|
|
NM_001042492.3(NF1):c.6507_6921+170del
|
|
|
NM_001042492.3(NF1):c.6508G>A (p.Val2170Ile)
|
rs2069704816
|
|
NM_001042492.3(NF1):c.6510C>T (p.Val2170=)
|
rs2151556214
|
|
NM_001042492.3(NF1):c.6512del (p.Lys2171fs)
|
rs2151556220
|
|
NM_001042492.3(NF1):c.6513G>A (p.Lys2171=)
|
rs1597843784
|
|
NM_001042492.3(NF1):c.6514_6517del (p.Ser2172fs)
|
|
|
NM_001042492.3(NF1):c.6515C>G (p.Ser2172Ter)
|
rs2069704915
|
|
NM_001042492.3(NF1):c.6516del (p.Ala2173fs)
|
|
|
NM_001042492.3(NF1):c.6519T>C (p.Ala2173=)
|
|
|
NM_001042492.3(NF1):c.651A>G (p.Glu217=)
|
|
|
NM_001042492.3(NF1):c.6520G>A (p.Ala2174Thr)
|
rs2069705000
|
|
NM_001042492.3(NF1):c.6521C>T (p.Ala2174Val)
|
rs1555534865
|
|
NM_001042492.3(NF1):c.6522T>A (p.Ala2174=)
|
|
|
NM_001042492.3(NF1):c.6522T>C (p.Ala2174=)
|
|
|
NM_001042492.3(NF1):c.6523G>C (p.Val2175Leu)
|
|
|
NM_001042492.3(NF1):c.6524_6525insAA (p.Ile2176fs)
|
rs2069705203
|
|
NM_001042492.3(NF1):c.6525C>G (p.Val2175=)
|
|
|
NM_001042492.3(NF1):c.6525C>T (p.Val2175=)
|
rs761686171
|
|
NM_001042492.3(NF1):c.6526A>G (p.Ile2176Val)
|
rs2069705304
|
|
NM_001042492.3(NF1):c.6527T>C (p.Ile2176Thr)
|
rs2069705362
|
|
NM_001042492.3(NF1):c.652A>G (p.Lys218Glu)
|
|
|
NM_001042492.3(NF1):c.6531C>T (p.Ala2177=)
|
rs2151556280
|
|
NM_001042492.3(NF1):c.6533del (p.Phe2178fs)
|
rs2069705474
|
|
NM_001042492.3(NF1):c.6534C>G (p.Phe2178Leu)
|
|
|
NM_001042492.3(NF1):c.6534C>T (p.Phe2178=)
|
|
|
NM_001042492.3(NF1):c.6535C>T (p.Arg2179Cys)
|
rs878853908
|
|
NM_001042492.3(NF1):c.6535del (p.Arg2179fs)
|
|
|
NM_001042492.3(NF1):c.6536G>A (p.Arg2179His)
|
rs772639479
|
|
NM_001042492.3(NF1):c.6536G>T (p.Arg2179Leu)
|
rs772639479
|
|
NM_001042492.3(NF1):c.6538del (p.Ser2180fs)
|
rs1597843836
|
|
NM_001042492.3(NF1):c.653A>G (p.Lys218Arg)
|
rs1332171832
|
|
NM_001042492.3(NF1):c.653del (p.Lys218fs)
|
rs1131691094
|
|
NM_001042492.3(NF1):c.653dup (p.Ala219fs)
|
rs1131691094
|
|
NM_001042492.3(NF1):c.654+10A>T
|
rs1597658231
|
|
NM_001042492.3(NF1):c.654+11A>G
|
rs2143774889
|
|
NM_001042492.3(NF1):c.654+11A>T
|
rs2143774889
|
|
NM_001042492.3(NF1):c.654+12C>A
|
rs2143774913
|
|
NM_001042492.3(NF1):c.654+13C>A
|
rs2143774947
|
|
NM_001042492.3(NF1):c.654+14T>A
|
rs2066133060
|
|
NM_001042492.3(NF1):c.654+14T>C
|
rs2066133060
|
|
NM_001042492.3(NF1):c.654+15C>T
|
rs780400882
|
|
NM_001042492.3(NF1):c.654+18del
|
|
|
NM_001042492.3(NF1):c.654+19G>A
|
|
|
NM_001042492.3(NF1):c.654+19G>T
|
|
|
NM_001042492.3(NF1):c.654+1G>A
|
rs1060500245
|
|
NM_001042492.3(NF1):c.654+1G>T
|
rs1060500245
|
|
NM_001042492.3(NF1):c.654+20G>A
|
rs2066133331
|
|
NM_001042492.3(NF1):c.654+20G>T
|
|
|
NM_001042492.3(NF1):c.654+2T>A
|
rs2143774762
|
|
NM_001042492.3(NF1):c.654+2T>C
|
rs2143774762
|
|
NM_001042492.3(NF1):c.654+2T>G
|
|
|
NM_001042492.3(NF1):c.654+2dup
|
|
|
NM_001042492.3(NF1):c.654+4del
|
rs1555608683
|
|
NM_001042492.3(NF1):c.654+9C>A
|
rs2143774861
|
|
NM_001042492.3(NF1):c.6540del (p.Ser2181fs)
|
rs1597843853
|
|
NM_001042492.3(NF1):c.6545A>G (p.Tyr2182Cys)
|
rs2069705839
|
|
NM_001042492.3(NF1):c.6545del (p.Tyr2182fs)
|
rs1135402889
|
|
NM_001042492.3(NF1):c.6546C>A (p.Tyr2182Ter)
|
|
|
NM_001042492.3(NF1):c.6546C>G (p.Tyr2182Ter)
|
rs876659768
|
|
NM_001042492.3(NF1):c.6546_6550del (p.Tyr2182_Asp2184delinsTer)
|
rs1135402890
|
|
NM_001042492.3(NF1):c.6547del (p.Arg2183fs)
|
|
|
NM_001042492.3(NF1):c.6548G>A (p.Arg2183Gln)
|
rs2069706142
|
|
NM_001042492.3(NF1):c.6548G>C (p.Arg2183Pro)
|
rs2069706142
|
|
NM_001042492.3(NF1):c.6549G>T (p.Arg2183=)
|
rs1028183407
|
|
NM_001042492.3(NF1):c.655-12_655-9del
|
rs1597658505
|
|
NM_001042492.3(NF1):c.655-1G>A
|
rs2143777263
|
|
NM_001042492.3(NF1):c.655-2A>C
|
rs1555608734
|
|
NM_001042492.3(NF1):c.655-2A>G
|
rs1555608734
|
|
NM_001042492.3(NF1):c.655-3T>A
|
|
|
NM_001042492.3(NF1):c.655-3T>G
|
rs746584147
|
|
NM_001042492.3(NF1):c.655-4A>G
|
|
|
NM_001042492.3(NF1):c.655-5T>C
|
rs377264487
|
|
NM_001042492.3(NF1):c.655-6_655-3del
|
rs2066137549
|
|
NM_001042492.3(NF1):c.655-7T>G
|
|
|
NM_001042492.3(NF1):c.655-8A>C
|
rs758089068
|
|
NM_001042492.3(NF1):c.655-8A>G
|
rs758089068
|
|
NM_001042492.3(NF1):c.655-9T>C
|
rs2143777099
|
|
NM_001042492.3(NF1):c.6555G>A (p.Arg2185=)
|
rs786203189
|
|
NM_001042492.3(NF1):c.6555del (p.Arg2185fs)
|
|
|
NM_001042492.3(NF1):c.6556T>C (p.Ser2186Pro)
|
rs765867354
|
|
NM_001042492.3(NF1):c.6557C>A (p.Ser2186Ter)
|
|
|
NM_001042492.3(NF1):c.6557C>G (p.Ser2186Ter)
|
rs1131691091
|
|
NM_001042492.3(NF1):c.6558A>G (p.Ser2186=)
|
rs753509749
|
|
NM_001042492.3(NF1):c.6559T>C (p.Phe2187Leu)
|
rs1555534876
|
|
NM_001042492.3(NF1):c.655G>C (p.Ala219Pro)
|
rs2066137928
|
|
NM_001042492.3(NF1):c.655G>T (p.Ala219Ser)
|
|
|
NM_001042492.3(NF1):c.6560_6581del (p.Ser2186_Phe2187insTer)
|
|
|
NM_001042492.3(NF1):c.6562_6565del (p.Ser2188fs)
|
|
|
NM_001042492.3(NF1):c.6563C>G (p.Ser2188Cys)
|
|
|
NM_001042492.3(NF1):c.6564T>C (p.Ser2188=)
|
|
|
NM_001042492.3(NF1):c.6564dup (p.Pro2189fs)
|
rs2151556401
|
|
NM_001042492.3(NF1):c.6565C>G (p.Pro2189Ala)
|
|
|
NM_001042492.3(NF1):c.6566C>T (p.Pro2189Leu)
|
rs2069706766
|
|
NM_001042492.3(NF1):c.6567T>C (p.Pro2189=)
|
rs1597843915
|
|
NM_001042492.3(NF1):c.656C>G (p.Ala219Gly)
|
rs1160353919
|
|
NM_001042492.3(NF1):c.656C>T (p.Ala219Val)
|
rs1160353919
|
|
NM_001042492.3(NF1):c.6570C>A (p.Gly2190=)
|
|
|
NM_001042492.3(NF1):c.6570C>T (p.Gly2190=)
|
rs2151556423
|
|
NM_001042492.3(NF1):c.6571T>C (p.Ser2191Pro)
|
rs754630324
|
|
NM_001042492.3(NF1):c.6572C>T (p.Ser2191Phe)
|
rs765598479
|
|
NM_001042492.3(NF1):c.6573C>T (p.Ser2191=)
|
rs753136800
|
|
NM_001042492.3(NF1):c.6574T>A (p.Tyr2192Asn)
|
rs267606598
|
|
NM_001042492.3(NF1):c.6574T>C (p.Tyr2192His)
|
rs267606598
|
|
NM_001042492.3(NF1):c.6575A>G (p.Tyr2192Cys)
|
|
|
NM_001042492.3(NF1):c.6575A>T (p.Tyr2192Phe)
|
|
|
NM_001042492.3(NF1):c.6576T>A (p.Tyr2192Ter)
|
rs758917402
|
|
NM_001042492.3(NF1):c.6576T>C (p.Tyr2192=)
|
rs758917402
|
|
NM_001042492.3(NF1):c.6576T>G (p.Tyr2192Ter)
|
rs758917402
|
|
NM_001042492.3(NF1):c.6577G>C (p.Glu2193Gln)
|
rs1135402891
|
|
NM_001042492.3(NF1):c.6577G>T (p.Glu2193Ter)
|
rs1135402891
|
|
NM_001042492.3(NF1):c.6578del (p.Glu2193fs)
|
|
|
NM_001042492.3(NF1):c.6579_6598del (p.Glu2193fs)
|
|
|
NM_001042492.3(NF1):c.657A>G (p.Ala219=)
|
rs2143777330
|
|
NM_001042492.3(NF1):c.6580A>T (p.Arg2194Ter)
|
rs2151556446
|
|
NM_001042492.3(NF1):c.6580del (p.Arg2194fs)
|
rs2069707503
|
|
NM_001042492.3(NF1):c.6581G>A (p.Arg2194Lys)
|
rs2069707550
|
|
NM_001042492.3(NF1):c.6581dup (p.Glu2195fs)
|
rs2151556452
|
|
NM_001042492.3(NF1):c.6582A>G (p.Arg2194=)
|
|
|
NM_001042492.3(NF1):c.6583G>A (p.Glu2195Lys)
|
|
|
NM_001042492.3(NF1):c.6583G>C (p.Glu2195Gln)
|
rs1597843959
|
|
NM_001042492.3(NF1):c.6583G>T (p.Glu2195Ter)
|
|
|
NM_001042492.3(NF1):c.6583_6586del (p.Glu2195fs)
|
rs1131691084
|
|
NM_001042492.3(NF1):c.6584dup (p.Thr2196fs)
|
|
|
NM_001042492.3(NF1):c.6585G>C (p.Glu2195Asp)
|
|
|
NM_001042492.3(NF1):c.6585_6586del (p.Glu2195fs)
|
rs1131691084
|
|
NM_001042492.3(NF1):c.6585_6586dup (p.Thr2196fs)
|
|
|
NM_001042492.3(NF1):c.6586A>G (p.Thr2196Ala)
|
rs372169109
|
|
NM_001042492.3(NF1):c.6587C>T (p.Thr2196Ile)
|
rs2151556471
|
|
NM_001042492.3(NF1):c.6587_6588delinsGAGACAAAAATCATGTTTTTGTATTAATAAAATGAAAAAGATTCGATAATGGCATGGTATTACCATCCAGTTCTAAAGTGGTTTAATTCTGTGATTTGAGTACAAAGGTATGCCAGACTTGGGAGAGATAACAGAGAAATAATACCTGTTATATTCCTGGTTTGTCTACAAGCATCCTAATTTTGTATTATACAAAGCAAAGTATA (p.Thr2196delinsArgAspLysAsnHisValPheValLeuIleLysTer)
|
|
|
NM_001042492.3(NF1):c.6587del (p.Thr2196fs)
|
|
|
NM_001042492.3(NF1):c.6590_6591del (p.Phe2197fs)
|
rs2069707755
|
|
NM_001042492.3(NF1):c.6591T>C (p.Phe2197=)
|
rs1298866989
|
|
NM_001042492.3(NF1):c.6591_6593delinsAT (p.Phe2197fs)
|
|
|
NM_001042492.3(NF1):c.6591del (p.Phe2197fs)
|
rs2069707755
|
|
NM_001042492.3(NF1):c.6591dup (p.Ala2198fs)
|
|
|
NM_001042492.3(NF1):c.6592G>A (p.Ala2198Thr)
|
rs1555534882
|
|
NM_001042492.3(NF1):c.6592del (p.Ala2198fs)
|
rs2151556490
|
|
NM_001042492.3(NF1):c.6593del (p.Ala2198fs)
|
rs2151556491
|
|
NM_001042492.3(NF1):c.6594T>C (p.Ala2198=)
|
rs2151556493
|
|
NM_001042492.3(NF1):c.6597G>C (p.Leu2199Phe)
|
rs2151556504
|
|
NM_001042492.3(NF1):c.6598A>G (p.Thr2200Ala)
|
|
|
NM_001042492.3(NF1):c.6599_6600del (p.Thr2200fs)
|
rs2151556510
|
|
NM_001042492.3(NF1):c.65C>T (p.Pro22Leu)
|
rs2065654347
|
|
NM_001042492.3(NF1):c.6600del (p.Ser2201fs)
|
rs1135402892
|
|
NM_001042492.3(NF1):c.6602C>T (p.Ser2201Phe)
|
rs2151556524
|
|
NM_001042492.3(NF1):c.6606G>A (p.Leu2202=)
|
rs2151556537
|
|
NM_001042492.3(NF1):c.6607G>T (p.Glu2203Ter)
|
|
|
NM_001042492.3(NF1):c.6609A>G (p.Glu2203=)
|
rs2151556543
|
|
NM_001042492.3(NF1):c.6609_6610del (p.Glu2203fs)
|
rs2069708160
|
|
NM_001042492.3(NF1):c.6611C>T (p.Thr2204Ile)
|
rs1597843996
|
|
NM_001042492.3(NF1):c.6612A>G (p.Thr2204=)
|
rs1555534883
|
|
NM_001042492.3(NF1):c.6613_6623del (p.Val2205fs)
|
|
|
NM_001042492.3(NF1):c.6616dup (p.Thr2206fs)
|
|
|
NM_001042492.3(NF1):c.6617C>G (p.Thr2206Arg)
|
|
|
NM_001042492.3(NF1):c.661del (p.Trp221fs)
|
rs2143777361
|
|
NM_001042492.3(NF1):c.661dup (p.Trp221fs)
|
|
|
NM_001042492.3(NF1):c.6620_6622del (p.Glu2207del)
|
rs2069708499
|
|
NM_001042492.3(NF1):c.6622G>A (p.Ala2208Thr)
|
rs2151556592
|
|
NM_001042492.3(NF1):c.6623C>G (p.Ala2208Gly)
|
rs1555534886
|
|
NM_001042492.3(NF1):c.6623C>T (p.Ala2208Val)
|
rs1555534886
|
|
NM_001042492.3(NF1):c.6625T>C (p.Leu2209=)
|
rs2151556602
|
|
NM_001042492.3(NF1):c.6627G>A (p.Leu2209=)
|
rs2151556608
|
|
NM_001042492.3(NF1):c.662_663dup (p.Asn222fs)
|
rs1555608736
|
|
NM_001042492.3(NF1):c.6630G>A (p.Leu2210=)
|
rs886052801
|
|
NM_001042492.3(NF1):c.6631G>T (p.Glu2211Ter)
|
|
|
NM_001042492.3(NF1):c.6635T>A (p.Ile2212Asn)
|
rs1597844075
|
|
NM_001042492.3(NF1):c.6636del (p.Met2213fs)
|
|
|
NM_001042492.3(NF1):c.6637A>G (p.Met2213Val)
|
rs864622330
|
|
NM_001042492.3(NF1):c.6638T>C (p.Met2213Thr)
|
|
|
NM_001042492.3(NF1):c.6638T>G (p.Met2213Arg)
|
|
|
NM_001042492.3(NF1):c.6640G>T (p.Glu2214Ter)
|
|
|
NM_001042492.3(NF1):c.6641A>G (p.Glu2214Gly)
|
|
|
NM_001042492.3(NF1):c.6642+10C>T
|
|
|
NM_001042492.3(NF1):c.6642+11C>A
|
rs375446476
|
|
NM_001042492.3(NF1):c.6642+11C>G
|
rs375446476
|
|
NM_001042492.3(NF1):c.6642+11C>T
|
rs375446476
|
|
NM_001042492.3(NF1):c.6642+13A>G
|
|
|
NM_001042492.3(NF1):c.6642+14A>C
|
|
|
NM_001042492.3(NF1):c.6642+16T>A
|
rs773123329
|
|
NM_001042492.3(NF1):c.6642+16T>C
|
|
|
NM_001042492.3(NF1):c.6642+18A>G
|
rs1555534893
|
|
NM_001042492.3(NF1):c.6642+1G>A
|
rs1060500345
|
|
NM_001042492.3(NF1):c.6642+1G>C
|
rs1060500345
|
|
NM_001042492.3(NF1):c.6642+1G>T
|
rs1060500345
|
|
NM_001042492.3(NF1):c.6642+22_6642+24del
|
rs2151556747
|
|
NM_001042492.3(NF1):c.6642+26C>G
|
|
|
NM_001042492.3(NF1):c.6642+26C>T
|
|
|
NM_001042492.3(NF1):c.6642+2T>A
|
rs2069709336
|
|
NM_001042492.3(NF1):c.6642+2T>C
|
rs2069709336
|
|
NM_001042492.3(NF1):c.6642+3A>G
|
rs1555534891
|
|
NM_001042492.3(NF1):c.6642+3A>T
|
|
|
NM_001042492.3(NF1):c.6642+5A>G
|
rs1567617536
|
|
NM_001042492.3(NF1):c.6642+6G>A
|
rs2069709590
|
|
NM_001042492.3(NF1):c.6642+6del
|
rs1597844152
|
|
NM_001042492.3(NF1):c.6642+7A>G
|
rs1597844162
|
|
NM_001042492.3(NF1):c.6642+9G>A
|
|
|
NM_001042492.3(NF1):c.6642+9G>T
|
|
|
NM_001042492.3(NF1):c.6642G>T (p.Glu2214Asp)
|
|
|
NM_001042492.3(NF1):c.6643-10C>T
|
rs1597844527
|
|
NM_001042492.3(NF1):c.6643-11_6643-7del
|
|
|
NM_001042492.3(NF1):c.6643-12C>A
|
|
|
NM_001042492.3(NF1):c.6643-12C>T
|
rs2151557324
|
|
NM_001042492.3(NF1):c.6643-14A>G
|
|
|
NM_001042492.3(NF1):c.6643-18G>C
|
|
|
NM_001042492.3(NF1):c.6643-19A>C
|
rs544476647
|
|
NM_001042492.3(NF1):c.6643-1G>A
|
|
|
NM_001042492.3(NF1):c.6643-1G>C
|
rs2151557367
|
|
NM_001042492.3(NF1):c.6643-1G>T
|
|
|
NM_001042492.3(NF1):c.6643-20C>G
|
|
|
NM_001042492.3(NF1):c.6643-2A>C
|
rs1597844547
|
|
NM_001042492.3(NF1):c.6643-2A>G
|
rs1597844547
|
|
NM_001042492.3(NF1):c.6643-2A>T
|
rs1597844547
|
|
NM_001042492.3(NF1):c.6643-2del
|
|
|
NM_001042492.3(NF1):c.6643-3T>A
|
rs1326745383
|
|
NM_001042492.3(NF1):c.6643-3T>G
|
rs1326745383
|
|
NM_001042492.3(NF1):c.6643-3dup
|
rs35917458
|
|
NM_001042492.3(NF1):c.6643-4T>A
|
rs1555534908
|
|
NM_001042492.3(NF1):c.6643-4T>C
|
rs1555534908
|
|
NM_001042492.3(NF1):c.6643-4T>G
|
|
|
NM_001042492.3(NF1):c.6643-5T>G
|
rs1555534907
|
|
NM_001042492.3(NF1):c.6643-6T>G
|
|
|
NM_001042492.3(NF1):c.6643-8T>C
|
rs752079977
|
|
NM_001042492.3(NF1):c.6644C>T (p.Ala2215Val)
|
rs2069716487
|
|
NM_001042492.3(NF1):c.6645A>G (p.Ala2215=)
|
|
|
NM_001042492.3(NF1):c.6645del (p.Cys2216fs)
|
rs1555534913
|
|
NM_001042492.3(NF1):c.6646T>C (p.Cys2216Arg)
|
rs757736155
|
|
NM_001042492.3(NF1):c.6647G>T (p.Cys2216Phe)
|
rs1567617669
|
|
NM_001042492.3(NF1):c.6648C>A (p.Cys2216Ter)
|
rs1597844556
|
|
NM_001042492.3(NF1):c.6648C>T (p.Cys2216=)
|
rs1597844556
|
|
NM_001042492.3(NF1):c.6649A>G (p.Met2217Val)
|
rs876658255
|
|
NM_001042492.3(NF1):c.664A>G (p.Asn222Asp)
|
rs2143777490
|
|
NM_001042492.3(NF1):c.6650T>A (p.Met2217Lys)
|
rs2069716815
|
|
NM_001042492.3(NF1):c.6656A>T (p.Asp2219Val)
|
rs1567617676
|
|
NM_001042492.3(NF1):c.6657T>C (p.Asp2219=)
|
|
|
NM_001042492.3(NF1):c.6657T>G (p.Asp2219Glu)
|
rs786203831
|
|
NM_001042492.3(NF1):c.6658A>C (p.Ile2220Leu)
|
rs781284066
|
|
NM_001042492.3(NF1):c.6658A>G (p.Ile2220Val)
|
rs781284066
|
|
NM_001042492.3(NF1):c.6658_6659del (p.Ile2220fs)
|
rs2151557411
|
|
NM_001042492.3(NF1):c.6658del (p.Ile2220fs)
|
rs2069717157
|
|
NM_001042492.3(NF1):c.6658dup (p.Ile2220fs)
|
|
|
NM_001042492.3(NF1):c.665A>C (p.Asn222Thr)
|
rs587781709
|
|
NM_001042492.3(NF1):c.6663A>G (p.Pro2221=)
|
rs876660136
|
|
NM_001042492.3(NF1):c.6664A>T (p.Thr2222Ser)
|
|
|
NM_001042492.3(NF1):c.6664_6665inv (p.Thr2222Val)
|
|
|
NM_001042492.3(NF1):c.6664del (p.Thr2222fs)
|
|
|
NM_001042492.3(NF1):c.6666G>C (p.Thr2222=)
|
rs780247942
|
|
NM_001042492.3(NF1):c.6666G>T (p.Thr2222=)
|
|
|
NM_001042492.3(NF1):c.6667del (p.Cys2223fs)
|
rs1555534917
|
|
NM_001042492.3(NF1):c.6668del (p.Cys2223fs)
|
|
|
NM_001042492.3(NF1):c.6668delinsTT (p.Cys2223fs)
|
rs2069717621
|
|
NM_001042492.3(NF1):c.6669C>A (p.Cys2223Ter)
|
rs1555534918
|
|
NM_001042492.3(NF1):c.6671_6672insT (p.Lys2224fs)
|
|
|
NM_001042492.3(NF1):c.6671del (p.Lys2224fs)
|
rs1555534919
|
|
NM_001042492.3(NF1):c.6675G>A (p.Trp2225Ter)
|
rs2069717916
|
|
NM_001042492.3(NF1):c.6676C>T (p.Leu2226=)
|
rs876658129
|
|
NM_001042492.3(NF1):c.6679G>A (p.Asp2227Asn)
|
rs993364800
|
|
NM_001042492.3(NF1):c.667T>A (p.Trp223Arg)
|
|
|
NM_001042492.3(NF1):c.667T>C (p.Trp223Arg)
|
rs1555608740
|
|
NM_001042492.3(NF1):c.6680A>T (p.Asp2227Val)
|
rs1485756462
|
|
NM_001042492.3(NF1):c.6681C>A (p.Asp2227Glu)
|
rs876659371
|
|
NM_001042492.3(NF1):c.6681C>G (p.Asp2227Glu)
|
rs876659371
|
|
NM_001042492.3(NF1):c.6681C>T (p.Asp2227=)
|
rs876659371
|
|
NM_001042492.3(NF1):c.6682C>T (p.Gln2228Ter)
|
rs2069718249
|
|
NM_001042492.3(NF1):c.6683A>G (p.Gln2228Arg)
|
|
|
NM_001042492.3(NF1):c.6684_6704+44del
|
|
|
NM_001042492.3(NF1):c.6685T>C (p.Trp2229Arg)
|
rs1060500342
|
|
NM_001042492.3(NF1):c.6685T>G (p.Trp2229Gly)
|
rs1060500342
|
|
NM_001042492.3(NF1):c.6686G>A (p.Trp2229Ter)
|
rs2151557496
|
|
NM_001042492.3(NF1):c.6686_6687insT (p.Trp2229fs)
|
rs2151557502
|
|
NM_001042492.3(NF1):c.6686_6688del (p.Trp2229_Thr2230delinsSer)
|
rs2069718437
|
|
NM_001042492.3(NF1):c.6687G>A (p.Trp2229Ter)
|
rs1597844653
|
|
NM_001042492.3(NF1):c.6687_6688del (p.Trp2229fs)
|
|
|
NM_001042492.3(NF1):c.668G>A (p.Trp223Ter)
|
rs1567826110
|
|
NM_001042492.3(NF1):c.6690A>G (p.Thr2230=)
|
rs1597844663
|
|
NM_001042492.3(NF1):c.6691G>A (p.Glu2231Lys)
|
rs1024484381
|
|
NM_001042492.3(NF1):c.6691G>T (p.Glu2231Ter)
|
|
|
NM_001042492.3(NF1):c.6693A>C (p.Glu2231Asp)
|
rs777588905
|
|
NM_001042492.3(NF1):c.6693A>G (p.Glu2231=)
|
rs777588905
|
|
NM_001042492.3(NF1):c.6694C>G (p.Leu2232Val)
|
rs1597844673
|
|
NM_001042492.3(NF1):c.6697G>A (p.Ala2233Thr)
|
rs2069718829
|
|
NM_001042492.3(NF1):c.6699del (p.Gln2234fs)
|
rs1060500268
|
|
NM_001042492.3(NF1):c.669G>A (p.Trp223Ter)
|
rs1057517967
|
|
NM_001042492.3(NF1):c.669G>T (p.Trp223Cys)
|
rs1057517967
|
|
NM_001042492.3(NF1):c.66A>G (p.Pro22=)
|
|
|
NM_001042492.3(NF1):c.6700C>G (p.Gln2234Glu)
|
rs1567617727
|
|
NM_001042492.3(NF1):c.6700C>T (p.Gln2234Ter)
|
rs1567617727
|
|
NM_001042492.3(NF1):c.6701A>G (p.Gln2234Arg)
|
rs1597844689
|
|
NM_001042492.3(NF1):c.6703A>T (p.Arg2235Ter)
|
rs2151557558
|
|
NM_001042492.3(NF1):c.6704+10A>G
|
rs2151557601
|
|
NM_001042492.3(NF1):c.6704+12A>G
|
|
|
NM_001042492.3(NF1):c.6704+14T>G
|
rs200051331
|
|
NM_001042492.3(NF1):c.6704+16_6704+19del
|
|
|
NM_001042492.3(NF1):c.6704+17dup
|
rs2151557620
|
|
NM_001042492.3(NF1):c.6704+18T>C
|
|
|
NM_001042492.3(NF1):c.6704+1G>A
|
rs1060500376
|
|
NM_001042492.3(NF1):c.6704+1G>C
|
rs1060500376
|
|
NM_001042492.3(NF1):c.6704+1del
|
rs1597844692
|
|
NM_001042492.3(NF1):c.6704+20T>C
|
|
|
NM_001042492.3(NF1):c.6704+20T>G
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|
|
NM_001042492.3(NF1):c.6704+2T>A
|
|
|
NM_001042492.3(NF1):c.6704+2T>G
|
rs1555534928
|
|
NM_001042492.3(NF1):c.6704+2del
|
rs1555534929
|
|
NM_001042492.3(NF1):c.6704+2dup
|
|
|
NM_001042492.3(NF1):c.6704+4T>C
|
rs1555534930
|
|
NM_001042492.3(NF1):c.6704+5G>A
|
rs2069719353
|
|
NM_001042492.3(NF1):c.6704+7C>T
|
rs2151557592
|
|
NM_001042492.3(NF1):c.6704+8C>A
|
rs770797478
|
|
NM_001042492.3(NF1):c.6704+8C>T
|
|
|
NM_001042492.3(NF1):c.6704G>T (p.Arg2235Ile)
|
rs2069719031
|
|
NM_001042492.3(NF1):c.6705-11T>G
|
rs2069723793
|
|
NM_001042492.3(NF1):c.6705-13C>T
|
|
|
NM_001042492.3(NF1):c.6705-14T>G
|
|
|
NM_001042492.3(NF1):c.6705-15A>G
|
rs2151557980
|
|
NM_001042492.3(NF1):c.6705-17G>A
|
rs1064795966
|
|
NM_001042492.3(NF1):c.6705-18T>A
|
|
|
NM_001042492.3(NF1):c.6705-18T>C
|
|
|
NM_001042492.3(NF1):c.6705-19G>A
|
|
|
NM_001042492.3(NF1):c.6705-1G>A
|
rs1060500356
|
|
NM_001042492.3(NF1):c.6705-1G>C
|
rs1060500356
|
|
NM_001042492.3(NF1):c.6705-1G>T
|
rs1060500356
|
|
NM_001042492.3(NF1):c.6705-1del
|
|
|
NM_001042492.3(NF1):c.6705-3C>A
|
rs1131691079
|
|
NM_001042492.3(NF1):c.6705-3C>G
|
rs1131691079
|
|
NM_001042492.3(NF1):c.6705-3C>T
|
|
|
NM_001042492.3(NF1):c.6705-4G>T
|
rs1597844961
|
|
NM_001042492.3(NF1):c.6705-5T>G
|
rs1597844956
|
|
NM_001042492.3(NF1):c.6705-6T>C
|
rs1597844950
|
|
NM_001042492.3(NF1):c.6705-6T>G
|
rs1597844950
|
|
NM_001042492.3(NF1):c.6705-7A>T
|
rs2151558006
|
|
NM_001042492.3(NF1):c.6705-7_6705-6insAAAA
|
rs2069724056
|
|
NM_001042492.3(NF1):c.6705-8A>G
|
rs2151558002
|
|
NM_001042492.3(NF1):c.6705-9T>G
|
|
|
NM_001042492.3(NF1):c.6705-9_6705-8insGCAGATTG
|
rs2069723972
|
|
NM_001042492.3(NF1):c.6705-9del
|
|
|
NM_001042492.3(NF1):c.6705-9dup
|
|
|
NM_001042492.3(NF1):c.6706T>A (p.Phe2236Ile)
|
rs2151558031
|
|
NM_001042492.3(NF1):c.6706T>C (p.Phe2236Leu)
|
|
|
NM_001042492.3(NF1):c.6708T>C (p.Phe2236=)
|
rs2151558039
|
|
NM_001042492.3(NF1):c.670G>C (p.Val224Leu)
|
rs1567826116
|
|
NM_001042492.3(NF1):c.670del (p.Trp223_Val224insTer)
|
|
|
NM_001042492.3(NF1):c.6711A>C (p.Ala2237=)
|
|
|
NM_001042492.3(NF1):c.6713del (p.Phe2238fs)
|
|
|
NM_001042492.3(NF1):c.6714C>A (p.Phe2238Leu)
|
rs2069724756
|
|
NM_001042492.3(NF1):c.6714C>T (p.Phe2238=)
|
|
|
NM_001042492.3(NF1):c.6715C>T (p.Gln2239Ter)
|
rs1131691093
|
|
NM_001042492.3(NF1):c.6716A>T (p.Gln2239Leu)
|
rs1597844989
|
|
NM_001042492.3(NF1):c.6716_6729del (p.Gln2239fs)
|
|
|
NM_001042492.3(NF1):c.6717A>G (p.Gln2239=)
|
rs2069724967
|
|
NM_001042492.3(NF1):c.6718dup (p.Tyr2240fs)
|
|
|
NM_001042492.3(NF1):c.6719_6723del (p.Tyr2240fs)
|
rs2069724925
|
|
NM_001042492.3(NF1):c.671T>A (p.Val224Glu)
|
|
|
NM_001042492.3(NF1):c.6720T>C (p.Tyr2240=)
|
rs2151558071
|
|
NM_001042492.3(NF1):c.6720T>G (p.Tyr2240Ter)
|
rs2151558071
|
|
NM_001042492.3(NF1):c.6720_6721dup (p.Asn2241fs)
|
rs2151558070
|
|
NM_001042492.3(NF1):c.6721_6722del (p.Asn2241fs)
|
rs2069725054
|
|
NM_001042492.3(NF1):c.6722dup (p.Asn2241fs)
|
rs1567617849
|
|
NM_001042492.3(NF1):c.6725C>T (p.Pro2242Leu)
|
|
|
NM_001042492.3(NF1):c.6726A>C (p.Pro2242=)
|
rs2151558085
|
|
NM_001042492.3(NF1):c.6726_6727insGGAAA (p.Ser2243fs)
|
rs1555534950
|
|
NM_001042492.3(NF1):c.6729C>T (p.Ser2243=)
|
rs1337738132
|
|
NM_001042492.3(NF1):c.672A>G (p.Val224=)
|
rs2143777618
|
|
NM_001042492.3(NF1):c.672_673delinsTT (p.Glu225Ter)
|
|
|
NM_001042492.3(NF1):c.6730C>G (p.Leu2244Val)
|
|
|
NM_001042492.3(NF1):c.6730C>T (p.Leu2244=)
|
rs1210367831
|
|
NM_001042492.3(NF1):c.6730del (p.Leu2244fs)
|
|
|
NM_001042492.3(NF1):c.6732del (p.Gln2245fs)
|
rs2151558108
|
|
NM_001042492.3(NF1):c.6733C>T (p.Gln2245Ter)
|
rs1597845013
|
|
NM_001042492.3(NF1):c.6736C>A (p.Pro2246Thr)
|
rs2151558118
|
|
NM_001042492.3(NF1):c.6736_6737del (p.Pro2246fs)
|
|
|
NM_001042492.3(NF1):c.6737del (p.Pro2246fs)
|
rs2151558122
|
|
NM_001042492.3(NF1):c.6738A>G (p.Pro2246=)
|
rs2151558128
|
|
NM_001042492.3(NF1):c.6738_6741del (p.Arg2247fs)
|
|
|
NM_001042492.3(NF1):c.6739A>C (p.Arg2247=)
|
rs1597845024
|
|
NM_001042492.3(NF1):c.6741del (p.Ala2248fs)
|
|
|
NM_001042492.3(NF1):c.6744T>A (p.Ala2248=)
|
rs878853910
|
|
NM_001042492.3(NF1):c.6744T>G (p.Ala2248=)
|
rs878853910
|
|
NM_001042492.3(NF1):c.6745C>T (p.Leu2249Phe)
|
|
|
NM_001042492.3(NF1):c.6746T>G (p.Leu2249Arg)
|
rs2151558158
|
|
NM_001042492.3(NF1):c.6747T>C (p.Leu2249=)
|
|
|
NM_001042492.3(NF1):c.6747TGT[1] (p.Val2251del)
|
rs2069725866
|
|
NM_001042492.3(NF1):c.6747del (p.Val2250fs)
|
rs2151558160
|
|
NM_001042492.3(NF1):c.6748G>C (p.Val2250Leu)
|
|
|
NM_001042492.3(NF1):c.6748G>T (p.Val2250Phe)
|
|
|
NM_001042492.3(NF1):c.6749T>C (p.Val2250Ala)
|
rs1567617869
|
|
NM_001042492.3(NF1):c.6750T>A (p.Val2250=)
|
rs762075320
|
|
NM_001042492.3(NF1):c.6750del (p.Val2251fs)
|
|
|
NM_001042492.3(NF1):c.6751G>T (p.Val2251Phe)
|
|
|
NM_001042492.3(NF1):c.6751_6754del (p.Val2251fs)
|
rs1567617877
|
|
NM_001042492.3(NF1):c.6751_6755del (p.Val2251fs)
|
|
|
NM_001042492.3(NF1):c.6753C>A (p.Val2251=)
|
rs1597845047
|
|
NM_001042492.3(NF1):c.6756T>C (p.Phe2252=)
|
rs1597845056
|
|
NM_001042492.3(NF1):c.6756del (p.Phe2252fs)
|
|
|
NM_001042492.3(NF1):c.6757G>C (p.Gly2253Arg)
|
|
|
NM_001042492.3(NF1):c.6758G>A (p.Gly2253Glu)
|
rs876659295
|
|
NM_001042492.3(NF1):c.6759G>A (p.Gly2253=)
|
|
|
NM_001042492.3(NF1):c.6759G>T (p.Gly2253=)
|
|
|
NM_001042492.3(NF1):c.6762T>A (p.Cys2254Ter)
|
|
|
NM_001042492.3(NF1):c.6762T>G (p.Cys2254Trp)
|
|
|
NM_001042492.3(NF1):c.6763A>T (p.Ile2255Phe)
|
|
|
NM_001042492.3(NF1):c.6764T>G (p.Ile2255Ser)
|
rs2069726396
|
|
NM_001042492.3(NF1):c.6765_6766del (p.Ile2255fs)
|
|
|
NM_001042492.3(NF1):c.6765dup (p.Ser2256Ter)
|
|
|
NM_001042492.3(NF1):c.6766A>C (p.Ser2256Arg)
|
|
|
NM_001042492.3(NF1):c.6766A>G (p.Ser2256Gly)
|
|
|
NM_001042492.3(NF1):c.6768C>A (p.Ser2256Arg)
|
|
|
NM_001042492.3(NF1):c.676A>G (p.Asn226Asp)
|
|
|
NM_001042492.3(NF1):c.6770A>G (p.Lys2257Arg)
|
|
|
NM_001042492.3(NF1):c.6771A>T (p.Lys2257Asn)
|
rs2151558249
|
|
NM_001042492.3(NF1):c.6772C>G (p.Arg2258Gly)
|
|
|
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter)
|
rs876658541
|
|
NM_001042492.3(NF1):c.6775G>A (p.Val2259Met)
|
rs1348782175
|
|
NM_001042492.3(NF1):c.6777G>A (p.Val2259=)
|
rs1281405147
|
|
NM_001042492.3(NF1):c.6777del (p.Ser2260fs)
|
|
|
NM_001042492.3(NF1):c.677A>C (p.Asn226Thr)
|
rs770339628
|
|
NM_001042492.3(NF1):c.6780_6781del (p.His2261fs)
|
|
|
NM_001042492.3(NF1):c.6780_6791delinsATGAGAC (p.His2261_Ile2264delinsTer)
|
rs1555534952
|
|
NM_001042492.3(NF1):c.6781C>G (p.His2261Asp)
|
rs750869272
|
|
NM_001042492.3(NF1):c.6781C>T (p.His2261Tyr)
|
rs750869272
|
|
NM_001042492.3(NF1):c.6782A>C (p.His2261Pro)
|
rs201336602
|
|
NM_001042492.3(NF1):c.6782A>G (p.His2261Arg)
|
rs201336602
|
|
NM_001042492.3(NF1):c.6783T>G (p.His2261Gln)
|
|
|
NM_001042492.3(NF1):c.6784G>T (p.Gly2262Trp)
|
rs1392981001
|
|
NM_001042492.3(NF1):c.6784_6801dup (p.Gly2262_Ile2267dup)
|
rs2151558293
|
|
NM_001042492.3(NF1):c.6786G>A (p.Gly2262=)
|
rs878853911
|
|
NM_001042492.3(NF1):c.6787C>A (p.Gln2263Lys)
|
rs2069727121
|
|
NM_001042492.3(NF1):c.6787C>T (p.Gln2263Ter)
|
|
|
NM_001042492.3(NF1):c.678T>C (p.Asn226=)
|
rs2143777669
|
|
NM_001042492.3(NF1):c.6791T>A (p.Ile2264Lys)
|
|
|
NM_001042492.3(NF1):c.6791dup (p.Gln2266fs)
|
|
|
NM_001042492.3(NF1):c.6792A>G (p.Ile2264Met)
|
|
|
NM_001042492.3(NF1):c.6794A>G (p.Lys2265Arg)
|
rs1060500258
|
|
NM_001042492.3(NF1):c.6794A>T (p.Lys2265Met)
|
rs1060500258
|
|
NM_001042492.3(NF1):c.6794del (p.Lys2265fs)
|
rs1597845155
|
|
NM_001042492.3(NF1):c.6795G>A (p.Lys2265=)
|
rs1597845162
|
|
NM_001042492.3(NF1):c.6796C>T (p.Gln2266Ter)
|
rs1555534955
|
|
NM_001042492.3(NF1):c.6798G>T (p.Gln2266His)
|
|
|
NM_001042492.3(NF1):c.6799A>G (p.Ile2267Val)
|
|
|
NM_001042492.3(NF1):c.679T>C (p.Tyr227His)
|
rs780682850
|
|
NM_001042492.3(NF1):c.6800T>C (p.Ile2267Thr)
|
rs1555534957
|
|
NM_001042492.3(NF1):c.6801A>G (p.Ile2267Met)
|
rs876659381
|
|
NM_001042492.3(NF1):c.6802del (p.Ile2268fs)
|
rs2069727641
|
|
NM_001042492.3(NF1):c.6803_6804del (p.Ile2268fs)
|
|
|
NM_001042492.3(NF1):c.6805C>G (p.Arg2269Gly)
|
rs1555534961
|
|
NM_001042492.3(NF1):c.6805C>T (p.Arg2269Cys)
|
rs1555534961
|
|
NM_001042492.3(NF1):c.6807T>G (p.Arg2269=)
|
|
|
NM_001042492.3(NF1):c.6808A>G (p.Ile2270Val)
|
|
|
NM_001042492.3(NF1):c.680A>G (p.Tyr227Cys)
|
|
|
NM_001042492.3(NF1):c.6810_6819del (p.Ile2270fs)
|
|
|
NM_001042492.3(NF1):c.6810del (p.Ser2272fs)
|
rs1135402893
|
|
NM_001042492.3(NF1):c.6811C>T (p.Leu2271Phe)
|
rs2151558388
|
|
NM_001042492.3(NF1):c.6813_6814insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCGGCCGATAATCCGTATTCTT (p.Ser2272delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
NM_001042492.3(NF1):c.6815G>C (p.Ser2272Thr)
|
|
|
NM_001042492.3(NF1):c.6816C>T (p.Ser2272=)
|
rs864622360
|
|
NM_001042492.3(NF1):c.6818A>C (p.Lys2273Thr)
|
|
|
NM_001042492.3(NF1):c.6818A>G (p.Lys2273Arg)
|
rs1060500344
|
|
NM_001042492.3(NF1):c.6818A>T (p.Lys2273Met)
|
rs1060500344
|
|
NM_001042492.3(NF1):c.6819+10C>G
|
|
|
NM_001042492.3(NF1):c.6819+12G>A
|
rs2151558468
|
|
NM_001042492.3(NF1):c.6819+12G>T
|
rs2151558468
|
|
NM_001042492.3(NF1):c.6819+12_6819+15del
|
|
|
NM_001042492.3(NF1):c.6819+14C>G
|
|
|
NM_001042492.3(NF1):c.6819+14C>T
|
|
|
NM_001042492.3(NF1):c.6819+15C>G
|
rs2151558481
|
|
NM_001042492.3(NF1):c.6819+17C>T
|
rs1567618002
|
|
NM_001042492.3(NF1):c.6819+19C>T
|
rs2151558492
|
|
NM_001042492.3(NF1):c.6819+1G>A
|
rs1555534964
|
|
NM_001042492.3(NF1):c.6819+1G>C
|
rs1555534964
|
|
NM_001042492.3(NF1):c.6819+1G>T
|
rs1555534964
|
|
NM_001042492.3(NF1):c.6819+2T>C
|
rs1135402894
|
|
NM_001042492.3(NF1):c.6819+2T>G
|
rs1135402894
|
|
NM_001042492.3(NF1):c.6819+3A>G
|
rs1555534966
|
|
NM_001042492.3(NF1):c.6819+3_6819+4del
|
|
|
NM_001042492.3(NF1):c.6819+3del
|
rs2069728377
|
|
NM_001042492.3(NF1):c.6819+5C>A
|
rs876659499
|
|
NM_001042492.3(NF1):c.6819+7G>T
|
|
|
NM_001042492.3(NF1):c.6819+9T>G
|
rs2151558449
|
|
NM_001042492.3(NF1):c.6819G>A (p.Lys2273=)
|
rs1060500373
|
|
NM_001042492.3(NF1):c.6819G>C (p.Lys2273Asn)
|
rs1060500373
|
|
NM_001042492.3(NF1):c.6819G>T (p.Lys2273Asn)
|
rs1060500373
|
|
NM_001042492.3(NF1):c.681T>A (p.Tyr227Ter)
|
rs745804540
|
|
NM_001042492.3(NF1):c.681T>G (p.Tyr227Ter)
|
rs745804540
|
|
NM_001042492.3(NF1):c.6820-10T>C
|
|
|
NM_001042492.3(NF1):c.6820-10T>G
|
rs1597845883
|
|
NM_001042492.3(NF1):c.6820-12T>G
|
rs2151559052
|
|
NM_001042492.3(NF1):c.6820-13G>A
|
|
|
NM_001042492.3(NF1):c.6820-13G>C
|
rs2151559051
|
|
NM_001042492.3(NF1):c.6820-14T>G
|
|
|
NM_001042492.3(NF1):c.6820-15C>A
|
rs2069741543
|
|
NM_001042492.3(NF1):c.6820-15C>T
|
rs2069741543
|
|
NM_001042492.3(NF1):c.6820-16del
|
rs759831245
|
|
NM_001042492.3(NF1):c.6820-17T>C
|
|
|
NM_001042492.3(NF1):c.6820-18A>C
|
|
|
NM_001042492.3(NF1):c.6820-1G>A
|
rs1060500266
|
|
NM_001042492.3(NF1):c.6820-1G>C
|
rs1060500266
|
|
NM_001042492.3(NF1):c.6820-29_6820-5del
|
|
|
NM_001042492.3(NF1):c.6820-2A>C
|
rs2151559073
|
|
NM_001042492.3(NF1):c.6820-2A>G
|
|
|
NM_001042492.3(NF1):c.6820-2A>T
|
|
|
NM_001042492.3(NF1):c.6820-3A>G
|
|
|
NM_001042492.3(NF1):c.6820-5A>G
|
rs1555535022
|
|
NM_001042492.3(NF1):c.6820-6T>A
|
rs1597845896
|
|
NM_001042492.3(NF1):c.6820-6T>C
|
rs1597845896
|
|
NM_001042492.3(NF1):c.6820-7C>A
|
rs1555535020
|
|
NM_001042492.3(NF1):c.6820-7C>G
|
|
|
NM_001042492.3(NF1):c.6820-7C>T
|
rs1555535020
|
|
NM_001042492.3(NF1):c.6820-8C>G
|
rs1060503909
|
|
NM_001042492.3(NF1):c.6820-8C>T
|
rs1060503909
|
|
NM_001042492.3(NF1):c.6820-9T>G
|
rs1597845886
|
|
NM_001042492.3(NF1):c.6820G>T (p.Ala2274Ser)
|
rs1555535023
|
|
NM_001042492.3(NF1):c.6821C>G (p.Ala2274Gly)
|
rs2069742248
|
|
NM_001042492.3(NF1):c.6822A>C (p.Ala2274=)
|
rs1555535025
|
|
NM_001042492.3(NF1):c.6822A>G (p.Ala2274=)
|
|
|
NM_001042492.3(NF1):c.6823_6827delinsTGG (p.Leu2275fs)
|
rs2069742393
|
|
NM_001042492.3(NF1):c.6825dup (p.Glu2276Ter)
|
|
|
NM_001042492.3(NF1):c.6826G>A (p.Glu2276Lys)
|
rs2069742475
|
|
NM_001042492.3(NF1):c.6826G>T (p.Glu2276Ter)
|
rs2069742475
|
|
NM_001042492.3(NF1):c.6828G>A (p.Glu2276=)
|
rs2069742604
|
|
NM_001042492.3(NF1):c.6829_6830del (p.Ser2277fs)
|
rs2069742524
|
|
NM_001042492.3(NF1):c.6830G>A (p.Ser2277Asn)
|
rs1597845918
|
|
NM_001042492.3(NF1):c.6832T>A (p.Cys2278Ser)
|
rs2069742802
|
|
NM_001042492.3(NF1):c.6832T>G (p.Cys2278Gly)
|
|
|
NM_001042492.3(NF1):c.6832_6833insAAA (p.Cys2278Ter)
|
|
|
NM_001042492.3(NF1):c.6832del (p.Cys2278fs)
|
rs2069742717
|
|
NM_001042492.3(NF1):c.6833dup (p.Cys2278fs)
|
rs1555535027
|
|
NM_001042492.3(NF1):c.6835T>A (p.Leu2279Ile)
|
|
|
NM_001042492.3(NF1):c.6835_6836dup (p.Leu2279fs)
|
rs1597845926
|
|
NM_001042492.3(NF1):c.6836T>G (p.Leu2279Ter)
|
|
|
NM_001042492.3(NF1):c.6836dup (p.Leu2279fs)
|
rs1597845926
|
|
NM_001042492.3(NF1):c.6837A>G (p.Leu2279=)
|
rs144287929
|
|
NM_001042492.3(NF1):c.683_684del (p.Pro228fs)
|
|
|
NM_001042492.3(NF1):c.6840del (p.Gly2281fs)
|
rs2069743106
|
|
NM_001042492.3(NF1):c.6841G>A (p.Gly2281Arg)
|
|
|
NM_001042492.3(NF1):c.6841G>T (p.Gly2281Ter)
|
rs2069743252
|
|
NM_001042492.3(NF1):c.6845C>G (p.Pro2282Arg)
|
rs2069743547
|
|
NM_001042492.3(NF1):c.6845C>T (p.Pro2282Leu)
|
rs2069743547
|
|
NM_001042492.3(NF1):c.6845del (p.Pro2282fs)
|
rs2069743464
|
|
NM_001042492.3(NF1):c.6847dup (p.Asp2283fs)
|
rs2069743612
|
|
NM_001042492.3(NF1):c.6849C>T (p.Asp2283=)
|
rs1597845951
|
|
NM_001042492.3(NF1):c.684A>G (p.Pro228=)
|
rs1555608746
|
|
NM_001042492.3(NF1):c.684A>T (p.Pro228=)
|
rs1555608746
|
|
NM_001042492.3(NF1):c.684del (p.Asp229fs)
|
|
|
NM_001042492.3(NF1):c.6850A>G (p.Thr2284Ala)
|
rs1597845953
|
|
NM_001042492.3(NF1):c.6852_6853del (p.Tyr2285fs)
|
|
|
NM_001042492.3(NF1):c.6852_6853dup (p.Tyr2285fs)
|
rs2151559183
|
|
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs)
|
rs1555535032
|
|
NM_001042492.3(NF1):c.6853_6854insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGGACCTGACACTT (p.Tyr2285delinsCysArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer)
|
|
|
NM_001042492.3(NF1):c.6853del (p.Tyr2285fs)
|
|
|
NM_001042492.3(NF1):c.6854_6855insAA (p.Tyr2285Ter)
|
|
|
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)
|
rs772295894
|
|
NM_001042492.3(NF1):c.6855_6856del (p.Tyr2285_Asn2286delinsTer)
|
|
|
NM_001042492.3(NF1):c.6855del (p.Thr2284_Tyr2285insTer)
|
rs1555535042
|
|
NM_001042492.3(NF1):c.6855dup (p.Asn2286fs)
|
rs1555535041
|
|
NM_001042492.3(NF1):c.6856A>C (p.Asn2286His)
|
|
|
NM_001042492.3(NF1):c.6856A>T (p.Asn2286Tyr)
|
|
|
NM_001042492.3(NF1):c.6858C>G (p.Asn2286Lys)
|
rs2151559216
|
|
NM_001042492.3(NF1):c.6858C>T (p.Asn2286=)
|
rs2151559216
|
|
NM_001042492.3(NF1):c.6858del (p.Asn2286fs)
|
|
|
NM_001042492.3(NF1):c.685G>C (p.Asp229His)
|
rs2066138591
|
|
NM_001042492.3(NF1):c.6861T>C (p.Ser2287=)
|
|
|
NM_001042492.3(NF1):c.6861T>G (p.Ser2287Arg)
|
rs2069744324
|
|
NM_001042492.3(NF1):c.6861_6864dup (p.Val2289fs)
|
rs1567618250
|
|
NM_001042492.3(NF1):c.6862C>T (p.Gln2288Ter)
|
|
|
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.6866T>A (p.Val2289Asp)
|
|
|
NM_001042492.3(NF1):c.6867T>C (p.Val2289=)
|
rs2151559243
|
|
NM_001042492.3(NF1):c.6869T>C (p.Leu2290Pro)
|
|
|
NM_001042492.3(NF1):c.686A>G (p.Asp229Gly)
|
rs1060500285
|
|
NM_001042492.3(NF1):c.686A>T (p.Asp229Val)
|
|
|
NM_001042492.3(NF1):c.6870G>A (p.Leu2290=)
|
rs773658814
|
|
NM_001042492.3(NF1):c.6870G>C (p.Leu2290=)
|
rs773658814
|
|
NM_001042492.3(NF1):c.6870G>T (p.Leu2290=)
|
rs773658814
|
|
NM_001042492.3(NF1):c.6870_6879del (p.Ile2291fs)
|
|
|
NM_001042492.3(NF1):c.6871A>C (p.Ile2291Leu)
|
rs876659722
|
|
NM_001042492.3(NF1):c.6871del (p.Leu2290_Ile2291insTer)
|
|
|
NM_001042492.3(NF1):c.6877_6878delinsAG (p.Ala2293Ser)
|
|
|
NM_001042492.3(NF1):c.6877_6880del (p.Ala2293fs)
|
|
|
NM_001042492.3(NF1):c.6878_6879dup (p.Thr2294fs)
|
|
|
NM_001042492.3(NF1):c.6878del (p.Ala2293fs)
|
rs1135402895
|
|
NM_001042492.3(NF1):c.687T>C (p.Asp229=)
|
rs2143777813
|
|
NM_001042492.3(NF1):c.6880_6906del (p.Thr2294_Gln2302del)
|
rs2151559288
|
|
NM_001042492.3(NF1):c.6881C>G (p.Thr2294Arg)
|
|
|
NM_001042492.3(NF1):c.6881C>T (p.Thr2294Ile)
|
rs786201902
|
|
NM_001042492.3(NF1):c.6882A>G (p.Thr2294=)
|
rs766889312
|
|
NM_001042492.3(NF1):c.6883G>T (p.Val2295Leu)
|
rs2151559300
|
|
NM_001042492.3(NF1):c.6883_6898del (p.Val2295fs)
|
rs2151559296
|
|
NM_001042492.3(NF1):c.6886_6903del (p.Ile2296_Leu2301del)
|
rs2069744859
|
|
NM_001042492.3(NF1):c.6886dup (p.Ile2296fs)
|
|
|
NM_001042492.3(NF1):c.6887T>C (p.Ile2296Thr)
|
rs1212022548
|
|
NM_001042492.3(NF1):c.6889G>A (p.Ala2297Thr)
|
rs2151559310
|
|
NM_001042492.3(NF1):c.688G>T (p.Glu230Ter)
|
rs2066138676
|
|
NM_001042492.3(NF1):c.6890C>G (p.Ala2297Gly)
|
rs2069744965
|
|
NM_001042492.3(NF1):c.6892C>T (p.Leu2298=)
|
rs1555535049
|
|
NM_001042492.3(NF1):c.6892dup (p.Leu2298fs)
|
rs2069745140
|
|
NM_001042492.3(NF1):c.6893T>C (p.Leu2298Pro)
|
rs1597846070
|
|
NM_001042492.3(NF1):c.6893T>G (p.Leu2298Arg)
|
|
|
NM_001042492.3(NF1):c.6895del (p.Thr2299fs)
|
|
|
NM_001042492.3(NF1):c.6896C>A (p.Thr2299Asn)
|
|
|
NM_001042492.3(NF1):c.6896C>T (p.Thr2299Ile)
|
|
|
NM_001042492.3(NF1):c.6897C>G (p.Thr2299=)
|
|
|
NM_001042492.3(NF1):c.6898A>T (p.Lys2300Ter)
|
|
|
NM_001042492.3(NF1):c.68del (p.Ile23fs)
|
rs1057518884
|
|
NM_001042492.3(NF1):c.68dup (p.Thr25fs)
|
rs2143625205
|
|
NM_001042492.3(NF1):c.6900A>C (p.Lys2300Asn)
|
rs786203861
|
|
NM_001042492.3(NF1):c.6900A>T (p.Lys2300Asn)
|
rs786203861
|
|
NM_001042492.3(NF1):c.6900dup (p.Leu2301fs)
|
rs1555535050
|
|
NM_001042492.3(NF1):c.6902T>A (p.Leu2301Ter)
|
|
|
NM_001042492.3(NF1):c.6902T>G (p.Leu2301Ter)
|
rs2069745354
|
|
NM_001042492.3(NF1):c.6903A>G (p.Leu2301=)
|
|
|
NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter)
|
rs1057518807
|
|
NM_001042492.3(NF1):c.6905_6921+8del
|
|
|
NM_001042492.3(NF1):c.6906G>A (p.Gln2302=)
|
rs1333226474
|
|
NM_001042492.3(NF1):c.6906G>T (p.Gln2302His)
|
|
|
NM_001042492.3(NF1):c.6908C>T (p.Pro2303Leu)
|
rs2151559381
|
|
NM_001042492.3(NF1):c.6909del (p.Leu2304fs)
|
rs2151559384
|
|
NM_001042492.3(NF1):c.690A>C (p.Glu230Asp)
|
rs2066138707
|
|
NM_001042492.3(NF1):c.690_691insAAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAATTATCCAGATGAA (p.Glu230_Phe231insLysLeuLeuGlyArgLeuArgGlnGluAsnGlyValAsnProGlyGlyGlyAlaCysSerGluProArgSerArgXaaXaaXaaLysLysLysLysLysLysLysGluAsnTyrProAspGlu)
|
|
|
NM_001042492.3(NF1):c.6912T>A (p.Leu2304=)
|
rs1597846097
|
|
NM_001042492.3(NF1):c.6912T>G (p.Leu2304=)
|
rs1597846097
|
|
NM_001042492.3(NF1):c.6912del (p.Asn2306fs)
|
|
|
NM_001042492.3(NF1):c.6913del (p.Asn2306fs)
|
|
|
NM_001042492.3(NF1):c.6915T>C (p.Leu2305=)
|
|
|
NM_001042492.3(NF1):c.6915T>G (p.Leu2305=)
|
|
|
NM_001042492.3(NF1):c.6915_6916insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCCACTTCTT (p.Asn2306delinsPhePhePhePhePhePheXaaXaaXaaXaaHisAspProProAlaSerAlaSerGlnSerAlaGlyIleThrGlyValSerHisArgAlaArgProAlaThrSerTer)
|
rs2151559369
|
|
NM_001042492.3(NF1):c.6915_6916insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCATGATCCACCCGCCTCGGCCTCCCAACGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTACAGCCACTTCTT (p.Asn2306delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuMetIleHisProProArgProProAsnValLeuGlyLeuGlnAlaTer)
|
|
|
NM_001042492.3(NF1):c.6915_6916insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGACAGCCACTTCTT (p.Asn2306delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
|
rs2151559362
|
|
NM_001042492.3(NF1):c.6917A>T (p.Asn2306Ile)
|
|
|
NM_001042492.3(NF1):c.6918T>A (p.Asn2306Lys)
|
rs1597846111
|
|
NM_001042492.3(NF1):c.6919A>T (p.Lys2307Ter)
|
|
|
NM_001042492.3(NF1):c.6919_6921del (p.Lys2307del)
|
rs587782819
|
|
NM_001042492.3(NF1):c.691T>G (p.Phe231Val)
|
rs2143777882
|
|
NM_001042492.3(NF1):c.6920A>G (p.Lys2307Arg)
|
rs765418194
|
|
NM_001042492.3(NF1):c.6921+10G>A
|
rs767166725
|
|
NM_001042492.3(NF1):c.6921+10_6921+11del
|
rs2151559456
|
|
NM_001042492.3(NF1):c.6921+11T>A
|
|
|
NM_001042492.3(NF1):c.6921+11T>C
|
rs2151559465
|
|
NM_001042492.3(NF1):c.6921+12A>G
|
|
|
NM_001042492.3(NF1):c.6921+12A>T
|
|
|
NM_001042492.3(NF1):c.6921+13T>C
|
|
|
NM_001042492.3(NF1):c.6921+14A>G
|
|
|
NM_001042492.3(NF1):c.6921+15G>T
|
|
|
NM_001042492.3(NF1):c.6921+18A>G
|
|
|
NM_001042492.3(NF1):c.6921+1G>A
|
rs1060500355
|
|
NM_001042492.3(NF1):c.6921+1G>C
|
rs1060500355
|
|
NM_001042492.3(NF1):c.6921+1G>T
|
rs1060500355
|
|
NM_001042492.3(NF1):c.6921+20dup
|
|
|
NM_001042492.3(NF1):c.6921+2T>A
|
rs1555535053
|
|
NM_001042492.3(NF1):c.6921+2T>C
|
rs1555535053
|
|
NM_001042492.3(NF1):c.6921+2_6921+3dup
|
|
|
NM_001042492.3(NF1):c.6921+3A>C
|
rs1085307885
|
|
NM_001042492.3(NF1):c.6921+3A>G
|
rs1085307885
|
|
NM_001042492.3(NF1):c.6921+3A>T
|
|
|
NM_001042492.3(NF1):c.6921+3_6921+64dup
|
rs2151559419
|
|
NM_001042492.3(NF1):c.6921+4A>G
|
rs752841251
|
|
NM_001042492.3(NF1):c.6921+6T>G
|
rs368541645
|
|
NM_001042492.3(NF1):c.6921+7A>C
|
|
|
NM_001042492.3(NF1):c.6921+8C>G
|
|
|
NM_001042492.3(NF1):c.6921+9T>C
|
rs1555535059
|
|
NM_001042492.3(NF1):c.6921+9del
|
|
|
NM_001042492.3(NF1):c.6921G>A (p.Lys2307=)
|
rs1057523533
|
|
NM_001042492.3(NF1):c.6921G>C (p.Lys2307Asn)
|
rs1057523533
|
|
NM_001042492.3(NF1):c.6921G>T (p.Lys2307Asn)
|
rs1057523533
|
|
NM_001042492.3(NF1):c.6922-11T>C
|
|
|
NM_001042492.3(NF1):c.6922-11T>G
|
rs2151561382
|
|
NM_001042492.3(NF1):c.6922-13T>A
|
rs199901687
|
|
NM_001042492.3(NF1):c.6922-14_6922-13del
|
rs146785663
|
|
NM_001042492.3(NF1):c.6922-16A>T
|
|
|
NM_001042492.3(NF1):c.6922-17C>T
|
|
|
NM_001042492.3(NF1):c.6922-18A>T
|
rs2151561347
|
|
NM_001042492.3(NF1):c.6922-1G>A
|
|
|
NM_001042492.3(NF1):c.6922-1G>C
|
rs1131691115
|
|
NM_001042492.3(NF1):c.6922-2A>G
|
rs864622509
|
|
NM_001042492.3(NF1):c.6922-2A>T
|
rs864622509
|
|
NM_001042492.3(NF1):c.6922-3C>T
|
rs876659438
|
|
NM_001042492.3(NF1):c.6922-4C>T
|
rs2069789284
|
|
NM_001042492.3(NF1):c.6922-5G>A
|
rs1555535158
|
|
NM_001042492.3(NF1):c.6922-5G>C
|
|
|
NM_001042492.3(NF1):c.6922-5G>T
|
|
|
NM_001042492.3(NF1):c.6922-7_6925dup
|
rs2151561390
|
|
NM_001042492.3(NF1):c.6922-9C>T
|
rs760085677
|
|
NM_001042492.3(NF1):c.6922-9_6922-7del
|
rs2151561376
|
|
NM_001042492.3(NF1):c.6922G>A (p.Asp2308Asn)
|
rs775660003
|
|
NM_001042492.3(NF1):c.6922G>T (p.Asp2308Tyr)
|
|
|
NM_001042492.3(NF1):c.6925T>G (p.Ser2309Ala)
|
rs2151561428
|
|
NM_001042492.3(NF1):c.6925dup (p.Ser2309fs)
|
rs2069789572
|
|
NM_001042492.3(NF1):c.6926C>A (p.Ser2309Ter)
|
rs1555535159
|
|
NM_001042492.3(NF1):c.6926C>T (p.Ser2309Leu)
|
rs1555535159
|
|
NM_001042492.3(NF1):c.6927del (p.Pro2310fs)
|
rs2151561453
|
|
NM_001042492.3(NF1):c.6928C>G (p.Pro2310Ala)
|
|
|
NM_001042492.3(NF1):c.6928C>T (p.Pro2310Ser)
|
rs2069789708
|
|
NM_001042492.3(NF1):c.6930T>A (p.Pro2310=)
|
|
|
NM_001042492.3(NF1):c.6930_6934dup (p.His2312fs)
|
rs2151561465
|
|
NM_001042492.3(NF1):c.6931C>G (p.Leu2311Val)
|
rs1044698498
|
|
NM_001042492.3(NF1):c.6933G>A (p.Leu2311=)
|
rs1468907773
|
|
NM_001042492.3(NF1):c.6934C>T (p.His2312Tyr)
|
|
|
NM_001042492.3(NF1):c.6937_6956del (p.Lys2313fs)
|
|
|
NM_001042492.3(NF1):c.6938A>G (p.Lys2313Arg)
|
rs2069790077
|
|
NM_001042492.3(NF1):c.6939del (p.Ala2314fs)
|
rs2069790028
|
|
NM_001042492.3(NF1):c.693_694delinsCT (p.Thr232Ser)
|
rs1555608748
|
|
NM_001042492.3(NF1):c.693del (p.Phe231fs)
|
rs2143777901
|
|
NM_001042492.3(NF1):c.6941C>T (p.Ala2314Val)
|
rs2151561523
|
|
NM_001042492.3(NF1):c.6942C>T (p.Ala2314=)
|
rs1597847931
|
|
NM_001042492.3(NF1):c.6943C>G (p.Leu2315Val)
|
rs1361377546
|
|
NM_001042492.3(NF1):c.6944T>G (p.Leu2315Arg)
|
rs2151561538
|
|
NM_001042492.3(NF1):c.6945C>T (p.Leu2315=)
|
rs751893971
|
|
NM_001042492.3(NF1):c.6946T>C (p.Phe2316Leu)
|
|
|
NM_001042492.3(NF1):c.6948T>G (p.Phe2316Leu)
|
rs1597847958
|
|
NM_001042492.3(NF1):c.6948_6949del (p.Phe2316fs)
|
rs2069790360
|
|
NM_001042492.3(NF1):c.6949T>C (p.Trp2317Arg)
|
|
|
NM_001042492.3(NF1):c.6949T>G (p.Trp2317Gly)
|
rs1060500297
|
|
NM_001042492.3(NF1):c.6949del (p.Trp2317fs)
|
rs2069790360
|
|
NM_001042492.3(NF1):c.694A>G (p.Thr232Ala)
|
rs876660027
|
|
NM_001042492.3(NF1):c.694A>T (p.Thr232Ser)
|
rs876660027
|
|
NM_001042492.3(NF1):c.6950G>A (p.Trp2317Ter)
|
rs2069790543
|
|
NM_001042492.3(NF1):c.6951G>A (p.Trp2317Ter)
|
|
|
NM_001042492.3(NF1):c.6951G>C (p.Trp2317Cys)
|
rs2069790642
|
|
NM_001042492.3(NF1):c.6952G>T (p.Val2318Leu)
|
rs760528229
|
|
NM_001042492.3(NF1):c.6952_6955del (p.Val2318fs)
|
rs1555535163
|
|
NM_001042492.3(NF1):c.6952del (p.Trp2317_Val2318insTer)
|
rs1057519369
|
|
NM_001042492.3(NF1):c.6952dup (p.Val2318fs)
|
rs1057519369
|
|
NM_001042492.3(NF1):c.6953T>A (p.Val2318Glu)
|
|
|
NM_001042492.3(NF1):c.6953T>C (p.Val2318Ala)
|
rs2069790813
|
|
NM_001042492.3(NF1):c.6954del (p.Ala2319fs)
|
|
|
NM_001042492.3(NF1):c.6955G>A (p.Ala2319Thr)
|
rs786203881
|
|
NM_001042492.3(NF1):c.6955G>C (p.Ala2319Pro)
|
rs786203881
|
|
NM_001042492.3(NF1):c.6955_6969del (p.Ala2319_Leu2323del)
|
rs2069790969
|
|
NM_001042492.3(NF1):c.6956C>T (p.Ala2319Val)
|
|
|
NM_001042492.3(NF1):c.6957T>C (p.Ala2319=)
|
|
|
NM_001042492.3(NF1):c.6959T>C (p.Val2320Ala)
|
rs2069791087
|
|
NM_001042492.3(NF1):c.6959T>G (p.Val2320Gly)
|
|
|
NM_001042492.3(NF1):c.695C>G (p.Thr232Arg)
|
rs769719064
|
|
NM_001042492.3(NF1):c.695C>T (p.Thr232Ile)
|
rs769719064
|
|
NM_001042492.3(NF1):c.6963T>C (p.Ala2321=)
|
|
|
NM_001042492.3(NF1):c.6966G>A (p.Val2322=)
|
rs753793900
|
|
NM_001042492.3(NF1):c.6968T>C (p.Leu2323Pro)
|
rs1131691267
|
|
NM_001042492.3(NF1):c.6969G>A (p.Leu2323=)
|
rs2151561643
|
|
NM_001042492.3(NF1):c.6969del (p.Gln2324fs)
|
|
|
NM_001042492.3(NF1):c.696A>C (p.Thr232=)
|
|
|
NM_001042492.3(NF1):c.6970C>T (p.Gln2324Ter)
|
rs1131691073
|
|
NM_001042492.3(NF1):c.6970del (p.Gln2324fs)
|
|
|
NM_001042492.3(NF1):c.6971A>G (p.Gln2324Arg)
|
|
|
NM_001042492.3(NF1):c.6971del (p.Gln2324fs)
|
|
|
NM_001042492.3(NF1):c.6972G>A (p.Gln2324=)
|
rs1555535169
|
|
NM_001042492.3(NF1):c.6972G>C (p.Gln2324His)
|
|
|
NM_001042492.3(NF1):c.6973C>A (p.Leu2325Ile)
|
rs1597848038
|
|
NM_001042492.3(NF1):c.6975T>C (p.Leu2325=)
|
rs876659851
|
|
NM_001042492.3(NF1):c.6976G>A (p.Asp2326Asn)
|
rs1374858930
|
|
NM_001042492.3(NF1):c.6977A>G (p.Asp2326Gly)
|
|
|
NM_001042492.3(NF1):c.6977A>T (p.Asp2326Val)
|
rs2069791654
|
|
NM_001042492.3(NF1):c.6977_6978dup (p.Glu2327fs)
|
rs2151561685
|
|
NM_001042492.3(NF1):c.6978T>C (p.Asp2326=)
|
rs1135402896
|
|
NM_001042492.3(NF1):c.6979_6980insTA (p.Glu2327fs)
|
rs1555535171
|
|
NM_001042492.3(NF1):c.6979dup (p.Glu2327fs)
|
rs2069791742
|
|
NM_001042492.3(NF1):c.697A>C (p.Lys233Gln)
|
rs922257267
|
|
NM_001042492.3(NF1):c.697A>G (p.Lys233Glu)
|
rs922257267
|
|
NM_001042492.3(NF1):c.6982_6983del (p.Val2328fs)
|
|
|
NM_001042492.3(NF1):c.6984C>G (p.Val2328=)
|
|
|
NM_001042492.3(NF1):c.6985A>G (p.Asn2329Asp)
|
rs1597848075
|
|
NM_001042492.3(NF1):c.6986A>G (p.Asn2329Ser)
|
rs1597848079
|
|
NM_001042492.3(NF1):c.6986del (p.Asn2329fs)
|
|
|
NM_001042492.3(NF1):c.6987C>T (p.Asn2329=)
|
rs2151561728
|
|
NM_001042492.3(NF1):c.6988T>A (p.Leu2330Met)
|
|
|
NM_001042492.3(NF1):c.6989T>A (p.Leu2330Ter)
|
rs2151561738
|
|
NM_001042492.3(NF1):c.6989dup (p.Leu2330fs)
|
rs2069792041
|
|
NM_001042492.3(NF1):c.698A>G (p.Lys233Arg)
|
rs2066138986
|
|
NM_001042492.3(NF1):c.698_716del (p.Lys233fs)
|
|
|
NM_001042492.3(NF1):c.6990_6991insATGAGG (p.Leu2330_Tyr2331insMetArg)
|
rs1597848085
|
|
NM_001042492.3(NF1):c.6992A>T (p.Tyr2331Phe)
|
rs1060500304
|
|
NM_001042492.3(NF1):c.6993T>A (p.Tyr2331Ter)
|
rs2069792220
|
|
NM_001042492.3(NF1):c.6993T>C (p.Tyr2331=)
|
rs2069792220
|
|
NM_001042492.3(NF1):c.6993_7008del (p.Ser2332fs)
|
rs1555535177
|
|
NM_001042492.3(NF1):c.6994_6995delinsATTT (p.Ser2332fs)
|
rs2069792273
|
|
NM_001042492.3(NF1):c.6994del (p.Ser2332fs)
|
|
|
NM_001042492.3(NF1):c.6995C>A (p.Ser2332Ter)
|
|
|
NM_001042492.3(NF1):c.6995C>G (p.Ser2332Ter)
|
|
|
NM_001042492.3(NF1):c.6995C>T (p.Ser2332Leu)
|
|
|
NM_001042492.3(NF1):c.6995CAG[1] (p.Ala2333del)
|
rs2151561758
|
|
NM_001042492.3(NF1):c.6995dup (p.Ala2333fs)
|
|
|
NM_001042492.3(NF1):c.6996A>C (p.Ser2332=)
|
|
|
NM_001042492.3(NF1):c.6997G>T (p.Ala2333Ser)
|
rs1555535178
|
|
NM_001042492.3(NF1):c.699A>G (p.Lys233=)
|
|
|
NM_001042492.3(NF1):c.699del (p.Lys233fs)
|
|
|
NM_001042492.3(NF1):c.69A>G (p.Ile23Met)
|
rs1555604870
|
|
NM_001042492.3(NF1):c.7000G>A (p.Gly2334Ser)
|
rs1597848100
|
|
NM_001042492.3(NF1):c.7000G>C (p.Gly2334Arg)
|
rs1597848100
|
|
NM_001042492.3(NF1):c.7001G>A (p.Gly2334Asp)
|
rs2151561783
|
|
NM_001042492.3(NF1):c.7001del (p.Gly2334fs)
|
|
|
NM_001042492.3(NF1):c.7002T>A (p.Gly2334=)
|
|
|
NM_001042492.3(NF1):c.7002T>C (p.Gly2334=)
|
|
|
NM_001042492.3(NF1):c.7002T>G (p.Gly2334=)
|
|
|
NM_001042492.3(NF1):c.7002_7003insG (p.Thr2335fs)
|
rs2151561787
|
|
NM_001042492.3(NF1):c.7003A>C (p.Thr2335Pro)
|
rs370209920
|
|
NM_001042492.3(NF1):c.7003_7006dup (p.Ala2336fs)
|
|
|
NM_001042492.3(NF1):c.7003dup (p.Thr2335fs)
|
|
|
NM_001042492.3(NF1):c.7004C>A (p.Thr2335Asn)
|
|
|
NM_001042492.3(NF1):c.7006G>C (p.Ala2336Pro)
|
rs587781428
|
|
NM_001042492.3(NF1):c.7006G>T (p.Ala2336Ser)
|
rs587781428
|
|
NM_001042492.3(NF1):c.7007C>A (p.Ala2336Glu)
|
rs886052802
|
|
NM_001042492.3(NF1):c.7008A>G (p.Ala2336=)
|
rs201153017
|
|
NM_001042492.3(NF1):c.7009CTT[1] (p.Leu2338del)
|
rs2069792818
|
|
NM_001042492.3(NF1):c.7009_7020del (p.Leu2337_Gln2340del)
|
|
|
NM_001042492.3(NF1):c.700C>T (p.Leu234=)
|
|
|
NM_001042492.3(NF1):c.700dup (p.Leu234fs)
|
|
|
NM_001042492.3(NF1):c.7010T>C (p.Leu2337Pro)
|
|
|
NM_001042492.3(NF1):c.7010T>G (p.Leu2337Arg)
|
rs1555535179
|
|
NM_001042492.3(NF1):c.7011del (p.Glu2339fs)
|
rs2151561827
|
|
NM_001042492.3(NF1):c.7012C>G (p.Leu2338Val)
|
rs1597848149
|
|
NM_001042492.3(NF1):c.7012C>T (p.Leu2338Phe)
|
rs1597848149
|
|
NM_001042492.3(NF1):c.7013T>C (p.Leu2338Pro)
|
rs2151561836
|
|
NM_001042492.3(NF1):c.7013T>G (p.Leu2338Arg)
|
rs2151561836
|
|
NM_001042492.3(NF1):c.7015G>T (p.Glu2339Ter)
|
rs1060500359
|
|
NM_001042492.3(NF1):c.7017A>G (p.Glu2339=)
|
|
|
NM_001042492.3(NF1):c.7018C>A (p.Gln2340Lys)
|
|
|
NM_001042492.3(NF1):c.7018C>T (p.Gln2340Ter)
|
rs2069793099
|
|
NM_001042492.3(NF1):c.7024C>T (p.Leu2342=)
|
rs2151561869
|
|
NM_001042492.3(NF1):c.7025T>C (p.Leu2342Pro)
|
|
|
NM_001042492.3(NF1):c.7025T>G (p.Leu2342Arg)
|
rs2151561874
|
|
NM_001042492.3(NF1):c.7026G>T (p.Leu2342=)
|
rs371581213
|
|
NM_001042492.3(NF1):c.7027C>T (p.His2343Tyr)
|
rs781578248
|
|
NM_001042492.3(NF1):c.7027_7031del (p.His2343fs)
|
|
|
NM_001042492.3(NF1):c.7027del (p.His2343fs)
|
|
|
NM_001042492.3(NF1):c.7028A>G (p.His2343Arg)
|
|
|
NM_001042492.3(NF1):c.7029T>C (p.His2343=)
|
rs1555535187
|
|
NM_001042492.3(NF1):c.702_703inv (p.Tyr235His)
|
|
|
NM_001042492.3(NF1):c.702_708del (p.Tyr235fs)
|
rs2066139158
|
|
NM_001042492.3(NF1):c.7030A>G (p.Thr2344Ala)
|
rs1555535189
|
|
NM_001042492.3(NF1):c.7030A>T (p.Thr2344Ser)
|
|
|
NM_001042492.3(NF1):c.7030_7031insAAAACCTGCATACTTTAGATAGTCTCCGTATATTCAATGACAAGGTAAGCAAACTTTGCCTTGAGGTTCCTAGATTACTCAAATTTAGTACNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAA (p.His2343_Thr2344insLysAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysValSerLysLeuCysLeuGluValProArgLeuLeuLysPheSerThrXaaXaaXaaXaaXaaXaaLysLysLysLysLys)
|
rs2151561896
|
|
NM_001042492.3(NF1):c.7030del (p.Thr2344fs)
|
rs1135402897
|
|
NM_001042492.3(NF1):c.7031C>G (p.Thr2344Ser)
|
|
|
NM_001042492.3(NF1):c.7031C>T (p.Thr2344Ile)
|
rs2069793613
|
|
NM_001042492.3(NF1):c.7033T>G (p.Leu2345Val)
|
|
|
NM_001042492.3(NF1):c.7034T>C (p.Leu2345Ser)
|
rs1555535195
|
|
NM_001042492.3(NF1):c.7034_7041del (p.Leu2345fs)
|
rs1555535192
|
|
NM_001042492.3(NF1):c.7034del (p.Thr2344_Leu2345insTer)
|
rs2151561907
|
|
NM_001042492.3(NF1):c.7034dup (p.Leu2345fs)
|
rs2151561907
|
|
NM_001042492.3(NF1):c.7035A>G (p.Leu2345=)
|
|
|
NM_001042492.3(NF1):c.7036G>A (p.Asp2346Asn)
|
rs2069793959
|
|
NM_001042492.3(NF1):c.7036G>C (p.Asp2346His)
|
rs2069793959
|
|
NM_001042492.3(NF1):c.7037A>G (p.Asp2346Gly)
|
rs2151561935
|
|
NM_001042492.3(NF1):c.7037_7040del (p.Asp2346fs)
|
rs1597848201
|
|
NM_001042492.3(NF1):c.7038T>C (p.Asp2346=)
|
rs1597848208
|
|
NM_001042492.3(NF1):c.7038T>G (p.Asp2346Glu)
|
|
|
NM_001042492.3(NF1):c.7039dup (p.Ser2347fs)
|
rs2069794139
|
|
NM_001042492.3(NF1):c.7040G>C (p.Ser2347Thr)
|
rs1567619102
|
|
NM_001042492.3(NF1):c.7041T>C (p.Ser2347=)
|
rs746322836
|
|
NM_001042492.3(NF1):c.7042C>T (p.Leu2348Phe)
|
|
|
NM_001042492.3(NF1):c.7043T>G (p.Leu2348Arg)
|
rs1597848222
|
|
NM_001042492.3(NF1):c.7045C>G (p.Arg2349Gly)
|
rs56013763
|
|
NM_001042492.3(NF1):c.7046G>T (p.Arg2349Leu)
|
rs864622065
|
|
NM_001042492.3(NF1):c.7048A>C (p.Ile2350Leu)
|
rs1381254564
|
|
NM_001042492.3(NF1):c.7048A>G (p.Ile2350Val)
|
|
|
NM_001042492.3(NF1):c.7048del (p.Ile2350fs)
|
rs2151561981
|
|
NM_001042492.3(NF1):c.7049T>A (p.Ile2350Lys)
|
rs2069794814
|
|
NM_001042492.3(NF1):c.7050A>G (p.Ile2350Met)
|
|
|
NM_001042492.3(NF1):c.7050A>T (p.Ile2350=)
|
rs2151561986
|
|
NM_001042492.3(NF1):c.7052T>A (p.Phe2351Tyr)
|
|
|
NM_001042492.3(NF1):c.7053C>T (p.Phe2351=)
|
rs2069794864
|
|
NM_001042492.3(NF1):c.7054A>G (p.Asn2352Asp)
|
rs1441937734
|
|
NM_001042492.3(NF1):c.7054_7062+10del
|
rs2151561997
|
|
NM_001042492.3(NF1):c.7056T>C (p.Asn2352=)
|
|
|
NM_001042492.3(NF1):c.7057_7059del (p.Asp2353del)
|
rs786203558
|
|
NM_001042492.3(NF1):c.7059C>T (p.Asp2353=)
|
rs1555535200
|
|
NM_001042492.3(NF1):c.7059_7062dup (p.Ser2355fs)
|
rs2069795265
|
|
NM_001042492.3(NF1):c.7059dup (p.Lys2354fs)
|
rs2151562024
|
|
NM_001042492.3(NF1):c.705C>A (p.Tyr235Ter)
|
rs769048538
|
|
NM_001042492.3(NF1):c.705C>G (p.Tyr235Ter)
|
rs769048538
|
|
NM_001042492.3(NF1):c.705C>T (p.Tyr235=)
|
rs769048538
|
|
NM_001042492.3(NF1):c.7060A>G (p.Lys2354Glu)
|
rs2069795315
|
|
NM_001042492.3(NF1):c.7060A>T (p.Lys2354Ter)
|
rs2069795315
|
|
NM_001042492.3(NF1):c.7062+11T>G
|
|
|
NM_001042492.3(NF1):c.7062+12T>A
|
rs2151562096
|
|
NM_001042492.3(NF1):c.7062+12_7062+13del
|
rs753202735
|
|
NM_001042492.3(NF1):c.7062+13T>C
|
rs2069795786
|
|
NM_001042492.3(NF1):c.7062+13T>G
|
|
|
NM_001042492.3(NF1):c.7062+15C>T
|
|
|
NM_001042492.3(NF1):c.7062+16C>T
|
rs2151562117
|
|
NM_001042492.3(NF1):c.7062+17T>G
|
rs2151562120
|
|
NM_001042492.3(NF1):c.7062+1G>A
|
rs863224492
|
|
NM_001042492.3(NF1):c.7062+1G>T
|
rs863224492
|
|
NM_001042492.3(NF1):c.7062+1_7062+2insA
|
rs2151562057
|
|
NM_001042492.3(NF1):c.7062+1_7062+5del
|
rs1567619134
|
|
NM_001042492.3(NF1):c.7062+2T>C
|
rs1135402898
|
|
NM_001042492.3(NF1):c.7062+2del
|
rs2069795581
|
|
NM_001042492.3(NF1):c.7062+3A>G
|
|
|
NM_001042492.3(NF1):c.7062+3A>T
|
|
|
NM_001042492.3(NF1):c.7062+3_7062+31del
|
|
|
NM_001042492.3(NF1):c.7062+6C>G
|
rs2069795623
|
|
NM_001042492.3(NF1):c.7062+6C>T
|
|
|
NM_001042492.3(NF1):c.7062+8A>T
|
|
|
NM_001042492.3(NF1):c.7063-10T>C
|
|
|
NM_001042492.3(NF1):c.7063-10T>G
|
rs1597851210
|
|
NM_001042492.3(NF1):c.7063-10_7066del
|
|
|
NM_001042492.3(NF1):c.7063-11A>G
|
|
|
NM_001042492.3(NF1):c.7063-13T>A
|
|
|
NM_001042492.3(NF1):c.7063-14A>G
|
rs2151564884
|
|
NM_001042492.3(NF1):c.7063-16T>C
|
|
|
NM_001042492.3(NF1):c.7063-17A>C
|
rs2069864123
|
|
NM_001042492.3(NF1):c.7063-17A>G
|
rs2069864123
|
|
NM_001042492.3(NF1):c.7063-18C>G
|
rs191381093
|
|
NM_001042492.3(NF1):c.7063-18C>T
|
|
|
NM_001042492.3(NF1):c.7063-1G>A
|
rs1131691114
|
|
NM_001042492.3(NF1):c.7063-1G>C
|
rs1131691114
|
|
NM_001042492.3(NF1):c.7063-1G>T
|
rs1131691114
|
|
NM_001042492.3(NF1):c.7063-1_7087dup
|
rs2151564939
|
|
NM_001042492.3(NF1):c.7063-2A>G
|
rs1597851255
|
|
NM_001042492.3(NF1):c.7063-2A>T
|
|
|
NM_001042492.3(NF1):c.7063-3T>C
|
rs1241158120
|
|
NM_001042492.3(NF1):c.7063-3T>G
|
rs1241158120
|
|
NM_001042492.3(NF1):c.7063-4A>C
|
|
|
NM_001042492.3(NF1):c.7063-4A>G
|
rs749805168
|
|
NM_001042492.3(NF1):c.7063-4A>T
|
rs749805168
|
|
NM_001042492.3(NF1):c.7063-4_7063-2del
|
rs1597851237
|
|
NM_001042492.3(NF1):c.7063-5A>G
|
|
|
NM_001042492.3(NF1):c.7063-6_7063-2del
|
|
|
NM_001042492.3(NF1):c.7063-6_7063-3del
|
rs2151564907
|
|
NM_001042492.3(NF1):c.7063-6_7063-5dup
|
|
|
NM_001042492.3(NF1):c.7063-7T>A
|
|
|
NM_001042492.3(NF1):c.7063-7_7063-2del
|
|
|
NM_001042492.3(NF1):c.7063-7_7063-6delinsC
|
rs864622725
|
|
NM_001042492.3(NF1):c.7063-8_7063-5dup
|
|
|
NM_001042492.3(NF1):c.7063-9C>T
|
rs1555535398
|
|
NM_001042492.3(NF1):c.7063-9_7063-7del
|
|
|
NM_001042492.3(NF1):c.7064G>A (p.Ser2355Asn)
|
rs1555535399
|
|
NM_001042492.3(NF1):c.7065T>A (p.Ser2355Arg)
|
|
|
NM_001042492.3(NF1):c.7065T>G (p.Ser2355Arg)
|
rs1567620376
|
|
NM_001042492.3(NF1):c.7066C>T (p.Pro2356Ser)
|
rs2151564948
|
|
NM_001042492.3(NF1):c.7067C>A (p.Pro2356Gln)
|
rs1555535402
|
|
NM_001042492.3(NF1):c.7069G>A (p.Glu2357Lys)
|
rs199474784
|
|
NM_001042492.3(NF1):c.706C>G (p.Gln236Glu)
|
rs1597658664
|
|
NM_001042492.3(NF1):c.706C>T (p.Gln236Ter)
|
|
|
NM_001042492.3(NF1):c.7070A>G (p.Glu2357Gly)
|
rs786203596
|
|
NM_001042492.3(NF1):c.7070A>T (p.Glu2357Val)
|
rs786203596
|
|
NM_001042492.3(NF1):c.7072G>C (p.Glu2358Gln)
|
rs2069865899
|
|
NM_001042492.3(NF1):c.7072G>T (p.Glu2358Ter)
|
rs2069865899
|
|
NM_001042492.3(NF1):c.7072_7075del (p.Glu2358fs)
|
rs2151564961
|
|
NM_001042492.3(NF1):c.7072del (p.Glu2358fs)
|
rs2151564965
|
|
NM_001042492.3(NF1):c.7073A>G (p.Glu2358Gly)
|
|
|
NM_001042492.3(NF1):c.7074A>T (p.Glu2358Asp)
|
|
|
NM_001042492.3(NF1):c.7076_7102del (p.Val2359_Leu2367del)
|
rs1555535403
|
|
NM_001042492.3(NF1):c.7076dup (p.Phe2360fs)
|
|
|
NM_001042492.3(NF1):c.7077A>T (p.Val2359=)
|
rs1483485648
|
|
NM_001042492.3(NF1):c.7078T>C (p.Phe2360Leu)
|
rs2069866148
|
|
NM_001042492.3(NF1):c.7078T>G (p.Phe2360Val)
|
rs2069866148
|
|
NM_001042492.3(NF1):c.7079T>G (p.Phe2360Cys)
|
rs1567620390
|
|
NM_001042492.3(NF1):c.707A>G (p.Gln236Arg)
|
rs1321998864
|
|
NM_001042492.3(NF1):c.707del (p.Gln236fs)
|
|
|
NM_001042492.3(NF1):c.7081A>G (p.Met2361Val)
|
rs1022562410
|
|
NM_001042492.3(NF1):c.7081del (p.Met2361fs)
|
|
|
NM_001042492.3(NF1):c.7082T>C (p.Met2361Thr)
|
|
|
NM_001042492.3(NF1):c.7083G>A (p.Met2361Ile)
|
rs1293010884
|
|
NM_001042492.3(NF1):c.7088T>C (p.Ile2363Thr)
|
|
|
NM_001042492.3(NF1):c.7089C>G (p.Ile2363Met)
|
rs2069866501
|
|
NM_001042492.3(NF1):c.708G>A (p.Gln236=)
|
|
|
NM_001042492.3(NF1):c.708del (p.Ile237fs)
|
|
|
NM_001042492.3(NF1):c.7090C>A (p.Arg2364=)
|
rs1567620403
|
|
NM_001042492.3(NF1):c.7090C>T (p.Arg2364Trp)
|
rs1567620403
|
|
NM_001042492.3(NF1):c.7092del (p.Asn2365fs)
|
rs2151565015
|
|
NM_001042492.3(NF1):c.7093A>G (p.Asn2365Asp)
|
|
|
NM_001042492.3(NF1):c.7094del (p.Asn2365fs)
|
rs2151565023
|
|
NM_001042492.3(NF1):c.7095T>C (p.Asn2365=)
|
rs981246691
|
|
NM_001042492.3(NF1):c.7095_7096dup (p.Pro2366fs)
|
|
|
NM_001042492.3(NF1):c.7097C>G (p.Pro2366Arg)
|
rs1597851311
|
|
NM_001042492.3(NF1):c.7097C>T (p.Pro2366Leu)
|
rs1597851311
|
|
NM_001042492.3(NF1):c.7097del (p.Pro2366fs)
|
|
|
NM_001042492.3(NF1):c.7097dup (p.Leu2367fs)
|
|
|
NM_001042492.3(NF1):c.7099C>G (p.Leu2367Val)
|
rs1259241665
|
|
NM_001042492.3(NF1):c.7099C>T (p.Leu2367=)
|
rs1259241665
|
|
NM_001042492.3(NF1):c.709A>G (p.Ile237Val)
|
|
|
NM_001042492.3(NF1):c.70A>T (p.Lys24Ter)
|
rs2143625250
|
|
NM_001042492.3(NF1):c.7101G>A (p.Leu2367=)
|
rs1567620421
|
|
NM_001042492.3(NF1):c.7102G>A (p.Glu2368Lys)
|
rs2151565046
|
|
NM_001042492.3(NF1):c.7102G>C (p.Glu2368Gln)
|
|
|
NM_001042492.3(NF1):c.7104G>A (p.Glu2368=)
|
|
|
NM_001042492.3(NF1):c.7106G>A (p.Trp2369Ter)
|
rs2069867116
|
|
NM_001042492.3(NF1):c.7107G>A (p.Trp2369Ter)
|
rs1060500286
|
|
NM_001042492.3(NF1):c.7108C>T (p.His2370Tyr)
|
rs587781479
|
|
NM_001042492.3(NF1):c.710_711del (p.Ile237fs)
|
|
|
NM_001042492.3(NF1):c.7110del (p.Cys2371fs)
|
rs2069867387
|
|
NM_001042492.3(NF1):c.7113C>A (p.Cys2371Ter)
|
rs2069867490
|
|
NM_001042492.3(NF1):c.7113C>T (p.Cys2371=)
|
rs2069867490
|
|
NM_001042492.3(NF1):c.7114A>T (p.Lys2372Ter)
|
rs776506332
|
|
NM_001042492.3(NF1):c.7114_7133del (p.Lys2372fs)
|
rs2069867622
|
|
NM_001042492.3(NF1):c.7115del (p.Lys2372fs)
|
rs2151565074
|
|
NM_001042492.3(NF1):c.7116G>A (p.Lys2372=)
|
rs2151565083
|
|
NM_001042492.3(NF1):c.7117C>T (p.Gln2373Ter)
|
rs1555535417
|
|
NM_001042492.3(NF1):c.711C>A (p.Ile237=)
|
rs2066139444
|
|
NM_001042492.3(NF1):c.711C>G (p.Ile237Met)
|
rs2066139444
|
|
NM_001042492.3(NF1):c.7120A>G (p.Met2374Val)
|
rs2069867800
|
|
NM_001042492.3(NF1):c.7120del (p.Met2374fs)
|
|
|
NM_001042492.3(NF1):c.7120dup (p.Met2374fs)
|
rs2069867738
|
|
NM_001042492.3(NF1):c.7121T>G (p.Met2374Arg)
|
|
|
NM_001042492.3(NF1):c.7121del (p.Met2374fs)
|
|
|
NM_001042492.3(NF1):c.7122G>A (p.Met2374Ile)
|
rs2151565097
|
|
NM_001042492.3(NF1):c.7125T>A (p.Asp2375Glu)
|
rs1597851343
|
|
NM_001042492.3(NF1):c.7125T>C (p.Asp2375=)
|
rs1597851343
|
|
NM_001042492.3(NF1):c.7128T>C (p.His2376=)
|
rs1597851346
|
|
NM_001042492.3(NF1):c.712C>G (p.Pro238Ala)
|
rs1060500365
|
|
NM_001042492.3(NF1):c.7131T>C (p.Phe2377=)
|
|
|
NM_001042492.3(NF1):c.7131del (p.Phe2377fs)
|
rs1597851351
|
|
NM_001042492.3(NF1):c.7131dup (p.Val2378fs)
|
rs1597851351
|
|
NM_001042492.3(NF1):c.7135G>T (p.Gly2379Ter)
|
|
|
NM_001042492.3(NF1):c.7138C>T (p.Leu2380Phe)
|
rs2069868324
|
|
NM_001042492.3(NF1):c.713_714insCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAACTGTACCAGATCCC (p.Gln239fs)
|
|
|
NM_001042492.3(NF1):c.7140C>G (p.Leu2380=)
|
rs1318891665
|
|
NM_001042492.3(NF1):c.7142dup (p.Asn2381fs)
|
rs2069868519
|
|
NM_001042492.3(NF1):c.7144T>A (p.Phe2382Ile)
|
rs2069868688
|
|
NM_001042492.3(NF1):c.7145del (p.Phe2382fs)
|
rs2151565168
|
|
NM_001042492.3(NF1):c.7146C>G (p.Phe2382Leu)
|
rs2151565177
|
|
NM_001042492.3(NF1):c.7146_7147insTTTTTTTTTTNNNNNNNNNNGGGGTTACACCGAGGTCTCGATCTCCTGACCTCGAGATCCGCACGCCTCGGCCTCCCAAAGAGCTGTGATTAAAGGCGTGAGCCACAGCGACCGGCCGGACTCAATTTC (p.Asn2383delinsPhePhePheXaaXaaXaaXaaGlyLeuHisArgGlyLeuAspLeuLeuThrSerArgSerAlaArgLeuGlyLeuProLysSerCysAspTer)
|
rs2151565142
|
|
NM_001042492.3(NF1):c.7148A>C (p.Asn2383Thr)
|
|
|
NM_001042492.3(NF1):c.7148del (p.Asn2383fs)
|
|
|
NM_001042492.3(NF1):c.714A>T (p.Pro238=)
|
|
|
NM_001042492.3(NF1):c.7150T>C (p.Ser2384Pro)
|
rs1555535429
|
|
NM_001042492.3(NF1):c.7151_7152dup (p.Asn2385fs)
|
|
|
NM_001042492.3(NF1):c.7151_7152insA (p.Ser2384_Asn2385insTer)
|
rs2069868919
|
|
NM_001042492.3(NF1):c.7151_7152insG (p.Ser2384_Asn2385insTer)
|
|
|
NM_001042492.3(NF1):c.7152T>A (p.Ser2384=)
|
rs2151565205
|
|
NM_001042492.3(NF1):c.7152_7153insTT (p.Asn2385fs)
|
rs1555535434
|
|
NM_001042492.3(NF1):c.7152dup (p.Asn2385Ter)
|
rs1555535434
|
|
NM_001042492.3(NF1):c.7153A>C (p.Asn2385His)
|
|
|
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.7155C>T (p.Asn2385=)
|
rs2151565220
|
|
NM_001042492.3(NF1):c.7155_7158dup (p.Asn2387delinsLeuTer)
|
|
|
NM_001042492.3(NF1):c.7156T>A (p.Phe2386Ile)
|
|
|
NM_001042492.3(NF1):c.7156T>G (p.Phe2386Val)
|
rs1597851418
|
|
NM_001042492.3(NF1):c.7157T>C (p.Phe2386Ser)
|
rs1555535439
|
|
NM_001042492.3(NF1):c.7157_7158dup (p.Asn2387fs)
|
rs1597851420
|
|
NM_001042492.3(NF1):c.7158T>C (p.Phe2386=)
|
rs876660271
|
|
NM_001042492.3(NF1):c.7158del (p.Phe2386fs)
|
rs1597851420
|
|
NM_001042492.3(NF1):c.7158dup (p.Asn2387Ter)
|
rs1597851420
|
|
NM_001042492.3(NF1):c.7159A>T (p.Asn2387Tyr)
|
rs763556723
|
|
NM_001042492.3(NF1):c.715C>T (p.Gln239Ter)
|
rs1597658676
|
|
NM_001042492.3(NF1):c.7160A>C (p.Asn2387Thr)
|
rs2069869339
|
|
NM_001042492.3(NF1):c.7160A>G (p.Asn2387Ser)
|
|
|
NM_001042492.3(NF1):c.7161C>G (p.Asn2387Lys)
|
rs1555535444
|
|
NM_001042492.3(NF1):c.7162T>A (p.Phe2388Ile)
|
rs1425642121
|
|
NM_001042492.3(NF1):c.7162T>C (p.Phe2388Leu)
|
rs1425642121
|
|
NM_001042492.3(NF1):c.7164del (p.Phe2388fs)
|
|
|
NM_001042492.3(NF1):c.7165G>C (p.Ala2389Pro)
|
|
|
NM_001042492.3(NF1):c.7165G>T (p.Ala2389Ser)
|
|
|
NM_001042492.3(NF1):c.7167A>C (p.Ala2389=)
|
rs1555535447
|
|
NM_001042492.3(NF1):c.7167A>G (p.Ala2389=)
|
|
|
NM_001042492.3(NF1):c.7167_7170dup (p.Val2391fs)
|
|
|
NM_001042492.3(NF1):c.7167del (p.Leu2390fs)
|
|
|
NM_001042492.3(NF1):c.7169_7178delinsCAGC (p.Leu2390_His2393delinsSerAla)
|
rs1555535448
|
|
NM_001042492.3(NF1):c.7170G>C (p.Leu2390Phe)
|
rs751081026
|
|
NM_001042492.3(NF1):c.7170G>T (p.Leu2390Phe)
|
rs751081026
|
|
NM_001042492.3(NF1):c.7171del (p.Val2391fs)
|
rs2151565274
|
|
NM_001042492.3(NF1):c.7172T>A (p.Val2391Asp)
|
rs2069869918
|
|
NM_001042492.3(NF1):c.7172T>C (p.Val2391Ala)
|
rs2069869918
|
|
NM_001042492.3(NF1):c.7173_7174del (p.Gly2392fs)
|
rs2151565282
|
|
NM_001042492.3(NF1):c.7173dup (p.Gly2392fs)
|
|
|
NM_001042492.3(NF1):c.7174G>C (p.Gly2392Arg)
|
rs1357330262
|
|
NM_001042492.3(NF1):c.7174G>T (p.Gly2392Ter)
|
rs1357330262
|
|
NM_001042492.3(NF1):c.7175del (p.Gly2392fs)
|
rs2069870034
|
|
NM_001042492.3(NF1):c.7177C>T (p.His2393Tyr)
|
rs1597851468
|
|
NM_001042492.3(NF1):c.7178A>G (p.His2393Arg)
|
rs2069870134
|
|
NM_001042492.3(NF1):c.7178del (p.His2393fs)
|
|
|
NM_001042492.3(NF1):c.7178dup (p.His2393fs)
|
rs2151565309
|
|
NM_001042492.3(NF1):c.7179C>A (p.His2393Gln)
|
rs2069870191
|
|
NM_001042492.3(NF1):c.7179C>G (p.His2393Gln)
|
rs2069870191
|
|
NM_001042492.3(NF1):c.7179C>T (p.His2393=)
|
rs2069870191
|
|
NM_001042492.3(NF1):c.717G>A (p.Gln239=)
|
rs1597658684
|
|
NM_001042492.3(NF1):c.7180C>G (p.Leu2394Val)
|
rs1555535452
|
|
NM_001042492.3(NF1):c.7180del (p.Leu2394fs)
|
|
|
NM_001042492.3(NF1):c.7181T>A (p.Leu2394His)
|
rs1135402899
|
|
NM_001042492.3(NF1):c.7181T>G (p.Leu2394Arg)
|
rs1135402899
|
|
NM_001042492.3(NF1):c.7183T>G (p.Leu2395Val)
|
rs1567620503
|
|
NM_001042492.3(NF1):c.7184T>A (p.Leu2395Ter)
|
|
|
NM_001042492.3(NF1):c.7184T>G (p.Leu2395Ter)
|
|
|
NM_001042492.3(NF1):c.7184del (p.Leu2394_Leu2395insTer)
|
rs2069870374
|
|
NM_001042492.3(NF1):c.7184dup (p.Leu2395fs)
|
rs2069870374
|
|
NM_001042492.3(NF1):c.7186A>T (p.Lys2396Ter)
|
rs1597851489
|
|
NM_001042492.3(NF1):c.7188del (p.Tyr2398fs)
|
rs777872719
|
|
NM_001042492.3(NF1):c.7189+10C>A
|
|
|
NM_001042492.3(NF1):c.7189+10C>G
|
rs2151565359
|
|
NM_001042492.3(NF1):c.7189+11C>T
|
|
|
NM_001042492.3(NF1):c.7189+15T>C
|
|
|
NM_001042492.3(NF1):c.7189+16T>G
|
|
|
NM_001042492.3(NF1):c.7189+1G>A
|
rs1555535455
|
|
NM_001042492.3(NF1):c.7189+1G>C
|
rs1555535455
|
|
NM_001042492.3(NF1):c.7189+1G>T
|
rs1555535455
|
|
NM_001042492.3(NF1):c.7189+20A>C
|
|
|
NM_001042492.3(NF1):c.7189+2T>C
|
|
|
NM_001042492.3(NF1):c.7189+2_7189+6del
|
|
|
NM_001042492.3(NF1):c.7189+3A>G
|
|
|
NM_001042492.3(NF1):c.7189+4A>C
|
rs756834212
|
|
NM_001042492.3(NF1):c.7189+6A>C
|
|
|
NM_001042492.3(NF1):c.7189+6A>G
|
|
|
NM_001042492.3(NF1):c.7189+7A>C
|
rs767151173
|
|
NM_001042492.3(NF1):c.7189+8del
|
rs753952604
|
|
NM_001042492.3(NF1):c.7189+8dup
|
rs753952604
|
|
NM_001042492.3(NF1):c.7189+9G>A
|
rs1597851538
|
|
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg)
|
rs1135402900
|
|
NM_001042492.3(NF1):c.7189G>C (p.Gly2397Arg)
|
rs1135402900
|
|
NM_001042492.3(NF1):c.7189G>T (p.Gly2397Trp)
|
|
|
NM_001042492.3(NF1):c.7190-10T>C
|
rs2070072539
|
|
NM_001042492.3(NF1):c.7190-10T>G
|
rs2070072539
|
|
NM_001042492.3(NF1):c.7190-12T>A
|
rs1597858284
|
|
NM_001042492.3(NF1):c.7190-1G>A
|
rs2070073417
|
|
NM_001042492.3(NF1):c.7190-1G>T
|
|
|
NM_001042492.3(NF1):c.7190-20T>A
|
rs1597858261
|
|
NM_001042492.3(NF1):c.7190-2A>G
|
rs772348111
|
|
NM_001042492.3(NF1):c.7190-33TTGT[3]
|
rs149197458
|
|
NM_001042492.3(NF1):c.7190-33TTGT[7]
|
rs149197458
|
|
NM_001042492.3(NF1):c.7190-3T>C
|
rs2070073286
|
|
NM_001042492.3(NF1):c.7190-5T>C
|
rs748245325
|
|
NM_001042492.3(NF1):c.7190-5T>G
|
rs748245325
|
|
NM_001042492.3(NF1):c.7190-5del
|
rs769290414
|
|
NM_001042492.3(NF1):c.7190-6T>C
|
rs1597858313
|
|
NM_001042492.3(NF1):c.7190-6_7190-2del
|
rs2151572451
|
|
NM_001042492.3(NF1):c.7190-8T>G
|
rs2070072794
|
|
NM_001042492.3(NF1):c.7190G>A (p.Gly2397Glu)
|
rs2070073482
|
|
NM_001042492.3(NF1):c.7191G>C (p.Gly2397=)
|
rs773474652
|
|
NM_001042492.3(NF1):c.7191G>T (p.Gly2397=)
|
rs773474652
|
|
NM_001042492.3(NF1):c.7194C>A (p.Tyr2398Ter)
|
rs2070073649
|
|
NM_001042492.3(NF1):c.7194C>G (p.Tyr2398Ter)
|
rs2070073649
|
|
NM_001042492.3(NF1):c.7196G>A (p.Arg2399Lys)
|
|
|
NM_001042492.3(NF1):c.7197G>A (p.Arg2399=)
|
rs1555536017
|
|
NM_001042492.3(NF1):c.7197G>T (p.Arg2399Ser)
|
|
|
NM_001042492.3(NF1):c.7197_7203dup (p.Ser2402fs)
|
|
|
NM_001042492.3(NF1):c.7198C>T (p.His2400Tyr)
|
rs1567623421
|
|
NM_001042492.3(NF1):c.7199A>G (p.His2400Arg)
|
rs1597858362
|
|
NM_001042492.3(NF1):c.7201C>T (p.Pro2401Ser)
|
rs1597858372
|
|
NM_001042492.3(NF1):c.7204T>C (p.Ser2402Pro)
|
|
|
NM_001042492.3(NF1):c.7204T>G (p.Ser2402Ala)
|
rs1287571228
|
|
NM_001042492.3(NF1):c.7204dup (p.Ser2402fs)
|
|
|
NM_001042492.3(NF1):c.7205C>A (p.Ser2402Ter)
|
|
|
NM_001042492.3(NF1):c.7205C>G (p.Ser2402Ter)
|
rs2151572511
|
|
NM_001042492.3(NF1):c.7207C>T (p.Pro2403Ser)
|
|
|
NM_001042492.3(NF1):c.7209T>C (p.Pro2403=)
|
rs1597858377
|
|
NM_001042492.3(NF1):c.7209del (p.Ala2404fs)
|
rs2070074227
|
|
NM_001042492.3(NF1):c.720T>C (p.Thr240=)
|
rs1555608761
|
|
NM_001042492.3(NF1):c.720T>G (p.Thr240=)
|
rs1555608761
|
|
NM_001042492.3(NF1):c.7212dup (p.Ile2405fs)
|
rs2070074350
|
|
NM_001042492.3(NF1):c.7213del (p.Ile2405fs)
|
|
|
NM_001042492.3(NF1):c.7215T>C (p.Ile2405=)
|
rs2151572549
|
|
NM_001042492.3(NF1):c.7217T>C (p.Val2406Ala)
|
rs950181978
|
|
NM_001042492.3(NF1):c.7218T>C (p.Val2406=)
|
|
|
NM_001042492.3(NF1):c.7219G>C (p.Ala2407Pro)
|
rs2151572572
|
|
NM_001042492.3(NF1):c.721G>A (p.Asp241Asn)
|
rs2066139718
|
|
NM_001042492.3(NF1):c.7220C>G (p.Ala2407Gly)
|
rs2151572575
|
|
NM_001042492.3(NF1):c.7223G>A (p.Arg2408Lys)
|
rs1597858407
|
|
NM_001042492.3(NF1):c.7223_7225del (p.Arg2408del)
|
|
|
NM_001042492.3(NF1):c.7225A>G (p.Thr2409Ala)
|
rs1555536021
|
|
NM_001042492.3(NF1):c.7226C>G (p.Thr2409Arg)
|
|
|
NM_001042492.3(NF1):c.7226C>T (p.Thr2409Ile)
|
rs1597858415
|
|
NM_001042492.3(NF1):c.7226del (p.Thr2409fs)
|
rs2151572589
|
|
NM_001042492.3(NF1):c.7227del (p.Val2410fs)
|
|
|
NM_001042492.3(NF1):c.7228G>A (p.Val2410Ile)
|
rs1060500372
|
|
NM_001042492.3(NF1):c.7228G>C (p.Val2410Leu)
|
rs1060500372
|
|
NM_001042492.3(NF1):c.722A>C (p.Asp241Ala)
|
|
|
NM_001042492.3(NF1):c.7230C>T (p.Val2410=)
|
rs1555536022
|
|
NM_001042492.3(NF1):c.7231A>T (p.Arg2411Ter)
|
rs2070074822
|
|
NM_001042492.3(NF1):c.7232_7233del (p.Arg2411fs)
|
rs2151572602
|
|
NM_001042492.3(NF1):c.7232_7258del (p.Arg2411_Val2420delinsIle)
|
rs1567623439
|
|
NM_001042492.3(NF1):c.7233A>G (p.Arg2411=)
|
rs1597858430
|
|
NM_001042492.3(NF1):c.7233A>T (p.Arg2411Ser)
|
|
|
NM_001042492.3(NF1):c.7235T>G (p.Ile2412Ser)
|
|
|
NM_001042492.3(NF1):c.7236_7321+332del
|
|
|
NM_001042492.3(NF1):c.7237T>C (p.Leu2413=)
|
rs2070075052
|
|
NM_001042492.3(NF1):c.7237T>G (p.Leu2413Val)
|
|
|
NM_001042492.3(NF1):c.7238T>A (p.Leu2413Ter)
|
rs775181940
|
|
NM_001042492.3(NF1):c.723T>A (p.Asp241Glu)
|
|
|
NM_001042492.3(NF1):c.723_730+4del
|
|
|
NM_001042492.3(NF1):c.7240C>T (p.His2414Tyr)
|
rs2070075234
|
|
NM_001042492.3(NF1):c.7241A>C (p.His2414Pro)
|
rs876659855
|
|
NM_001042492.3(NF1):c.7242_7245del (p.Thr2415fs)
|
rs2070075185
|
|
NM_001042492.3(NF1):c.7243A>G (p.Thr2415Ala)
|
|
|
NM_001042492.3(NF1):c.7246C>G (p.Leu2416Val)
|
rs786201310
|
|
NM_001042492.3(NF1):c.7246C>T (p.Leu2416=)
|
rs786201310
|
|
NM_001042492.3(NF1):c.7246CTA[1] (p.Leu2417del)
|
rs1555536023
|
|
NM_001042492.3(NF1):c.7247T>C (p.Leu2416Pro)
|
rs2151572659
|
|
NM_001042492.3(NF1):c.7247_7250dup (p.Leu2419fs)
|
rs2070075481
|
|
NM_001042492.3(NF1):c.7247_7304del (p.Leu2416fs)
|
|
|
NM_001042492.3(NF1):c.7248A>G (p.Leu2416=)
|
|
|
NM_001042492.3(NF1):c.7248_7249del (p.Leu2417fs)
|
|
|
NM_001042492.3(NF1):c.7249C>G (p.Leu2417Val)
|
rs2070075539
|
|
NM_001042492.3(NF1):c.7249del (p.Leu2416_Leu2417insTer)
|
rs1597858445
|
|
NM_001042492.3(NF1):c.724A>G (p.Met242Val)
|
rs1555608762
|
|
NM_001042492.3(NF1):c.724dup (p.Met242fs)
|
rs1555608763
|
|
NM_001042492.3(NF1):c.7252_7255del (p.Thr2418fs)
|
rs2151572676
|
|
NM_001042492.3(NF1):c.7253C>G (p.Thr2418Ser)
|
|
|
NM_001042492.3(NF1):c.7254T>C (p.Thr2418=)
|
rs1597858465
|
|
NM_001042492.3(NF1):c.7254T>G (p.Thr2418=)
|
rs1597858465
|
|
NM_001042492.3(NF1):c.7255_7256del (p.Leu2419fs)
|
rs1597858459
|
|
NM_001042492.3(NF1):c.7256T>C (p.Leu2419Pro)
|
|
|
NM_001042492.3(NF1):c.7256T>G (p.Leu2419Arg)
|
rs2070075780
|
|
NM_001042492.3(NF1):c.7258G>A (p.Val2420Ile)
|
rs1597858484
|
|
NM_001042492.3(NF1):c.7258G>C (p.Val2420Leu)
|
rs1597858484
|
|
NM_001042492.3(NF1):c.725T>C (p.Met242Thr)
|
rs1555608765
|
|
NM_001042492.3(NF1):c.725T>G (p.Met242Arg)
|
rs1555608765
|
|
NM_001042492.3(NF1):c.725_726insA (p.Met242fs)
|
|
|
NM_001042492.3(NF1):c.725del (p.Met242fs)
|
|
|
NM_001042492.3(NF1):c.7260T>A (p.Val2420=)
|
rs2151572721
|
|
NM_001042492.3(NF1):c.7260_7264del (p.Asn2421fs)
|
rs2151572726
|
|
NM_001042492.3(NF1):c.7260del (p.Asn2421fs)
|
rs1135402901
|
|
NM_001042492.3(NF1):c.7260dup (p.Asn2421Ter)
|
rs1135402901
|
|
NM_001042492.3(NF1):c.7262A>C (p.Asn2421Thr)
|
rs774339063
|
|
NM_001042492.3(NF1):c.7262A>G (p.Asn2421Ser)
|
rs774339063
|
|
NM_001042492.3(NF1):c.7262_7266del (p.Asn2421fs)
|
rs2070076088
|
|
NM_001042492.3(NF1):c.7262del (p.Asn2421fs)
|
rs2070076040
|
|
NM_001042492.3(NF1):c.7263C>T (p.Asn2421=)
|
rs1597858494
|
|
NM_001042492.3(NF1):c.7264_7265insT (p.Lys2422fs)
|
|
|
NM_001042492.3(NF1):c.7265A>G (p.Lys2422Arg)
|
rs1597858501
|
|
NM_001042492.3(NF1):c.7265_7268del (p.Lys2422fs)
|
rs1567623480
|
|
NM_001042492.3(NF1):c.7267C>G (p.His2423Asp)
|
|
|
NM_001042492.3(NF1):c.7267C>T (p.His2423Tyr)
|
rs761299521
|
|
NM_001042492.3(NF1):c.7268del (p.His2423fs)
|
rs2070076467
|
|
NM_001042492.3(NF1):c.7268dup (p.His2423fs)
|
|
|
NM_001042492.3(NF1):c.7269C>A (p.His2423Gln)
|
|
|
NM_001042492.3(NF1):c.7269C>G (p.His2423Gln)
|
|
|
NM_001042492.3(NF1):c.7269C>T (p.His2423=)
|
|
|
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.7271del (p.Arg2424fs)
|
|
|
NM_001042492.3(NF1):c.7272A>C (p.Arg2424Ser)
|
rs139997141
|
|
NM_001042492.3(NF1):c.7272A>G (p.Arg2424=)
|
rs139997141
|
|
NM_001042492.3(NF1):c.7272_7273insTATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAACAAACACAGA (p.Asn2425delinsTyrValGluSerTer)
|
|
|
NM_001042492.3(NF1):c.7274A>G (p.Asn2425Ser)
|
rs2070076752
|
|
NM_001042492.3(NF1):c.7274del (p.Asn2425fs)
|
rs1555536030
|
|
NM_001042492.3(NF1):c.7276T>G (p.Cys2426Gly)
|
rs767059035
|
|
NM_001042492.3(NF1):c.7278T>A (p.Cys2426Ter)
|
rs1567623508
|
|
NM_001042492.3(NF1):c.7278T>C (p.Cys2426=)
|
rs1567623508
|
|
NM_001042492.3(NF1):c.7278_7279del (p.Cys2426_Asp2427delinsTer)
|
rs2070076932
|
|
NM_001042492.3(NF1):c.7278del (p.Cys2426fs)
|
rs2070077052
|
|
NM_001042492.3(NF1):c.727G>A (p.Ala243Thr)
|
|
|
NM_001042492.3(NF1):c.7281C>A (p.Asp2427Glu)
|
rs1567623519
|
|
NM_001042492.3(NF1):c.7281C>T (p.Asp2427=)
|
rs1567623519
|
|
NM_001042492.3(NF1):c.7281del (p.Asp2427fs)
|
rs2070077277
|
|
NM_001042492.3(NF1):c.7283A>T (p.Lys2428Ile)
|
rs2070077385
|
|
NM_001042492.3(NF1):c.7283_7284del (p.Lys2428fs)
|
|
|
NM_001042492.3(NF1):c.7284A>G (p.Lys2428=)
|
rs1555536034
|
|
NM_001042492.3(NF1):c.7286T>C (p.Phe2429Ser)
|
|
|
NM_001042492.3(NF1):c.7287del (p.Phe2429fs)
|
rs1135402902
|
|
NM_001042492.3(NF1):c.7288G>T (p.Glu2430Ter)
|
rs1555536035
|
|
NM_001042492.3(NF1):c.7289A>C (p.Glu2430Ala)
|
rs876659449
|
|
NM_001042492.3(NF1):c.7290A>G (p.Glu2430=)
|
rs2070077790
|
|
NM_001042492.3(NF1):c.7290del (p.Glu2430_Val2431insTer)
|
rs2070077732
|
|
NM_001042492.3(NF1):c.7291G>A (p.Val2431Met)
|
|
|
NM_001042492.3(NF1):c.7291_7295del (p.Val2431fs)
|
|
|
NM_001042492.3(NF1):c.7292T>C (p.Val2431Ala)
|
|
|
NM_001042492.3(NF1):c.7292T>G (p.Val2431Gly)
|
rs2070077893
|
|
NM_001042492.3(NF1):c.7292dup (p.Asn2432fs)
|
|
|
NM_001042492.3(NF1):c.7294A>C (p.Asn2432His)
|
|
|
NM_001042492.3(NF1):c.7295A>G (p.Asn2432Ser)
|
rs2070077965
|
|
NM_001042492.3(NF1):c.7297A>G (p.Thr2433Ala)
|
rs1597858568
|
|
NM_001042492.3(NF1):c.7299A>C (p.Thr2433=)
|
rs1056697992
|
|
NM_001042492.3(NF1):c.72_73dup (p.Thr25fs)
|
rs2143625237
|
|
NM_001042492.3(NF1):c.730+10C>A
|
rs750468471
|
|
NM_001042492.3(NF1):c.730+13T>C
|
rs2066140403
|
|
NM_001042492.3(NF1):c.730+1G>A
|
rs1060500274
|
|
NM_001042492.3(NF1):c.730+1G>C
|
rs1060500274
|
|
NM_001042492.3(NF1):c.730+1G>T
|
rs1060500274
|
|
NM_001042492.3(NF1):c.730+2T>C
|
|
|
NM_001042492.3(NF1):c.730+2T>G
|
rs200962248
|
|
NM_001042492.3(NF1):c.730+3A>C
|
|
|
NM_001042492.3(NF1):c.730+4A>G
|
rs767510113
|
|
NM_001042492.3(NF1):c.730+5G>A
|
rs1567826200
|
|
NM_001042492.3(NF1):c.730+6G>C
|
rs1444298546
|
|
NM_001042492.3(NF1):c.730+6G>T
|
|
|
NM_001042492.3(NF1):c.730+8T>C
|
rs1555608771
|
|
NM_001042492.3(NF1):c.730+8T>G
|
rs1555608771
|
|
NM_001042492.3(NF1):c.730+9A>G
|
|
|
NM_001042492.3(NF1):c.7300C>T (p.Gln2434Ter)
|
rs2151572890
|
|
NM_001042492.3(NF1):c.7300_7301del (p.Gln2434fs)
|
rs2151572876
|
|
NM_001042492.3(NF1):c.7301A>C (p.Gln2434Pro)
|
|
|
NM_001042492.3(NF1):c.7302G>C (p.Gln2434His)
|
|
|
NM_001042492.3(NF1):c.7303A>G (p.Ser2435Gly)
|
rs1555536038
|
|
NM_001042492.3(NF1):c.7303A>T (p.Ser2435Cys)
|
rs1555536038
|
|
NM_001042492.3(NF1):c.7303_7304del (p.Ser2435fs)
|
rs1597858594
|
|
NM_001042492.3(NF1):c.7304G>A (p.Ser2435Asn)
|
rs2151572910
|
|
NM_001042492.3(NF1):c.7306G>C (p.Val2436Leu)
|
rs876659856
|
|
NM_001042492.3(NF1):c.7309G>A (p.Ala2437Thr)
|
|
|
NM_001042492.3(NF1):c.730G>A (p.Glu244Lys)
|
rs1567826188
|
|
NM_001042492.3(NF1):c.730G>T (p.Glu244Ter)
|
|
|
NM_001042492.3(NF1):c.731-10T>C
|
rs2143784643
|
|
NM_001042492.3(NF1):c.731-13A>G
|
rs2143784617
|
|
NM_001042492.3(NF1):c.731-14T>G
|
rs1597659694
|
|
NM_001042492.3(NF1):c.731-16T>C
|
rs1227193781
|
|
NM_001042492.3(NF1):c.731-17del
|
|
|
NM_001042492.3(NF1):c.731-18A>C
|
rs2143784520
|
|
NM_001042492.3(NF1):c.731-19T>G
|
|
|
NM_001042492.3(NF1):c.731-1G>A
|
rs1555608928
|
|
NM_001042492.3(NF1):c.731-1G>C
|
rs1555608928
|
|
NM_001042492.3(NF1):c.731-1G>T
|
rs1555608928
|
|
NM_001042492.3(NF1):c.731-2A>C
|
rs1555608924
|
|
NM_001042492.3(NF1):c.731-2A>G
|
rs1555608924
|
|
NM_001042492.3(NF1):c.731-2A>T
|
rs1555608924
|
|
NM_001042492.3(NF1):c.731-2del
|
|
|
NM_001042492.3(NF1):c.731-3C>G
|
|
|
NM_001042492.3(NF1):c.731-5T>G
|
rs1597659721
|
|
NM_001042492.3(NF1):c.731-6_733del
|
rs2143784739
|
|
NM_001042492.3(NF1):c.731-8T>G
|
rs1597659705
|
|
NM_001042492.3(NF1):c.731-8del
|
rs1438618408
|
|
NM_001042492.3(NF1):c.731-9T>G
|
|
|
NM_001042492.3(NF1):c.7310C>A (p.Ala2437Asp)
|
rs2070078591
|
|
NM_001042492.3(NF1):c.7310C>T (p.Ala2437Val)
|
|
|
NM_001042492.3(NF1):c.7311C>T (p.Ala2437=)
|
rs876659893
|
|
NM_001042492.3(NF1):c.7312_7313dup (p.Leu2439fs)
|
|
|
NM_001042492.3(NF1):c.7313A>C (p.Tyr2438Ser)
|
|
|
NM_001042492.3(NF1):c.7313A>G (p.Tyr2438Cys)
|
rs876660597
|
|
NM_001042492.3(NF1):c.7313_7314insAA (p.Tyr2438Ter)
|
|
|
NM_001042492.3(NF1):c.7314C>G (p.Tyr2438Ter)
|
rs1060500385
|
|
NM_001042492.3(NF1):c.7314_7317del (p.Ala2437_Tyr2438insTer)
|
rs2070078716
|
|
NM_001042492.3(NF1):c.7314del (p.Tyr2438_Leu2439insTer)
|
|
|
NM_001042492.3(NF1):c.7315T>C (p.Leu2439=)
|
rs1597858629
|
|
NM_001042492.3(NF1):c.7316T>C (p.Leu2439Ser)
|
rs2070078996
|
|
NM_001042492.3(NF1):c.7316T>G (p.Leu2439Ter)
|
rs2070078996
|
|
NM_001042492.3(NF1):c.7317A>C (p.Leu2439Phe)
|
rs1597858633
|
|
NM_001042492.3(NF1):c.7317AGC[1] (p.Ala2441del)
|
rs1085307506
|
|
NM_001042492.3(NF1):c.7317dup (p.Ala2440fs)
|
rs2151572967
|
|
NM_001042492.3(NF1):c.7319C>T (p.Ala2440Val)
|
|
|
NM_001042492.3(NF1):c.7320del (p.Ala2441fs)
|
rs1060500300
|
|
NM_001042492.3(NF1):c.7321+10del
|
rs2151573014
|
|
NM_001042492.3(NF1):c.7321+1G>A
|
|
|
NM_001042492.3(NF1):c.7321+1G>T
|
rs1135402903
|
|
NM_001042492.3(NF1):c.7321+2T>C
|
rs2070079311
|
|
NM_001042492.3(NF1):c.7321+3A>G
|
rs1597858650
|
|
NM_001042492.3(NF1):c.7321+6A>G
|
rs1597858669
|
|
NM_001042492.3(NF1):c.7321+7A>C
|
rs1348655573
|
|
NM_001042492.3(NF1):c.7321+7A>G
|
|
|
NM_001042492.3(NF1):c.7321+8C>T
|
rs1555536044
|
|
NM_001042492.3(NF1):c.7322-10T>G
|
rs759969966
|
|
NM_001042492.3(NF1):c.7322-13G>C
|
|
|
NM_001042492.3(NF1):c.7322-14C>A
|
|
|
NM_001042492.3(NF1):c.7322-14C>G
|
|
|
NM_001042492.3(NF1):c.7322-18C>T
|
|
|
NM_001042492.3(NF1):c.7322-1G>A
|
rs2070102904
|
|
NM_001042492.3(NF1):c.7322-1G>C
|
rs2070102904
|
|
NM_001042492.3(NF1):c.7322-20T>C
|
|
|
NM_001042492.3(NF1):c.7322-20del
|
|
|
NM_001042492.3(NF1):c.7322-2A>G
|
|
|
NM_001042492.3(NF1):c.7322-2A>T
|
|
|
NM_001042492.3(NF1):c.7322-2_7324del
|
|
|
NM_001042492.3(NF1):c.7322-4T>C
|
rs2151574217
|
|
NM_001042492.3(NF1):c.7322-4T>G
|
|
|
NM_001042492.3(NF1):c.7322-6T>C
|
|
|
NM_001042492.3(NF1):c.7322-7C>T
|
rs2151574208
|
|
NM_001042492.3(NF1):c.7322-8C>G
|
|
|
NM_001042492.3(NF1):c.7322-8C>T
|
|
|
NM_001042492.3(NF1):c.7322-9del
|
rs2151574193
|
|
NM_001042492.3(NF1):c.7323T>C (p.Ala2441=)
|
rs765750009
|
|
NM_001042492.3(NF1):c.7324_7325dup (p.Leu2442fs)
|
|
|
NM_001042492.3(NF1):c.7325T>A (p.Leu2442Ter)
|
|
|
NM_001042492.3(NF1):c.7325T>G (p.Leu2442Ter)
|
rs2151574236
|
|
NM_001042492.3(NF1):c.7325_7329del (p.Leu2442fs)
|
|
|
NM_001042492.3(NF1):c.7325del (p.Leu2442fs)
|
rs1597859558
|
|
NM_001042492.3(NF1):c.7325dup (p.Leu2442fs)
|
rs1597859558
|
|
NM_001042492.3(NF1):c.7327C>G (p.Leu2443Val)
|
|
|
NM_001042492.3(NF1):c.7328_7331del (p.Leu2443fs)
|
rs1597859566
|
|
NM_001042492.3(NF1):c.732dup (p.Cys245fs)
|
|
|
NM_001042492.3(NF1):c.7330A>G (p.Thr2444Ala)
|
rs2070103253
|
|
NM_001042492.3(NF1):c.7330dup (p.Thr2444fs)
|
rs1064794278
|
|
NM_001042492.3(NF1):c.7331_7332del (p.Thr2444fs)
|
|
|
NM_001042492.3(NF1):c.7331del (p.Thr2444fs)
|
|
|
NM_001042492.3(NF1):c.7332A>T (p.Thr2444=)
|
rs759005886
|
|
NM_001042492.3(NF1):c.7334T>C (p.Val2445Ala)
|
rs1567623931
|
|
NM_001042492.3(NF1):c.7334T>G (p.Val2445Gly)
|
rs1567623931
|
|
NM_001042492.3(NF1):c.7335_7336del (p.Val2445_Ser2446insTer)
|
rs2151574274
|
|
NM_001042492.3(NF1):c.7336T>G (p.Ser2446Ala)
|
rs2151574285
|
|
NM_001042492.3(NF1):c.7337_7338del (p.Val2445_Ser2446insTer)
|
rs1135402904
|
|
NM_001042492.3(NF1):c.7339G>C (p.Glu2447Gln)
|
rs878853914
|
|
NM_001042492.3(NF1):c.7340AAG[1] (p.Glu2448del)
|
rs587781961
|
|
NM_001042492.3(NF1):c.7341A>G (p.Glu2447=)
|
rs878853915
|
|
NM_001042492.3(NF1):c.7343A>C (p.Glu2448Ala)
|
rs1597859599
|
|
NM_001042492.3(NF1):c.7343A>G (p.Glu2448Gly)
|
|
|
NM_001042492.3(NF1):c.7344A>G (p.Glu2448=)
|
rs374234848
|
|
NM_001042492.3(NF1):c.7344A>T (p.Glu2448Asp)
|
|
|
NM_001042492.3(NF1):c.7344_7345del (p.Glu2448fs)
|
|
|
NM_001042492.3(NF1):c.7346T>C (p.Val2449Ala)
|
|
|
NM_001042492.3(NF1):c.7348C>A (p.Arg2450=)
|
|
|
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter)
|
rs786202457
|
|
NM_001042492.3(NF1):c.734G>A (p.Cys245Tyr)
|
rs587781869
|
|
NM_001042492.3(NF1):c.734G>C (p.Cys245Ser)
|
|
|
NM_001042492.3(NF1):c.7355G>A (p.Arg2452His)
|
rs1555536122
|
|
NM_001042492.3(NF1):c.7355G>C (p.Arg2452Pro)
|
|
|
NM_001042492.3(NF1):c.7355G>T (p.Arg2452Leu)
|
rs1555536122
|
|
NM_001042492.3(NF1):c.7357T>C (p.Cys2453Arg)
|
|
|
NM_001042492.3(NF1):c.7357_7359del (p.Cys2453del)
|
|
|
NM_001042492.3(NF1):c.7358G>A (p.Cys2453Tyr)
|
|
|
NM_001042492.3(NF1):c.7359C>A (p.Cys2453Ter)
|
rs1555536126
|
|
NM_001042492.3(NF1):c.735T>C (p.Cys245=)
|
rs2143784885
|
|
NM_001042492.3(NF1):c.7361G>A (p.Ser2454Asn)
|
|
|
NM_001042492.3(NF1):c.7361G>C (p.Ser2454Thr)
|
rs1555536127
|
|
NM_001042492.3(NF1):c.7363_7364dup (p.Leu2455_Lys2456insTer)
|
|
|
NM_001042492.3(NF1):c.7366A>C (p.Lys2456Gln)
|
rs2151574384
|
|
NM_001042492.3(NF1):c.7366_7370del (p.Leu2455_Lys2456insTer)
|
rs2151574380
|
|
NM_001042492.3(NF1):c.7368A>C (p.Lys2456Asn)
|
rs201287021
|
|
NM_001042492.3(NF1):c.7369C>T (p.His2457Tyr)
|
rs768404575
|
|
NM_001042492.3(NF1):c.7369_7370del (p.Lys2456_His2457insTer)
|
rs2151574391
|
|
NM_001042492.3(NF1):c.736G>A (p.Ala246Thr)
|
|
|
NM_001042492.3(NF1):c.736G>T (p.Ala246Ser)
|
rs1597659751
|
|
NM_001042492.3(NF1):c.7371T>C (p.His2457=)
|
|
|
NM_001042492.3(NF1):c.7371_7372del (p.His2457fs)
|
|
|
NM_001042492.3(NF1):c.7371_7372dup (p.Arg2458fs)
|
|
|
NM_001042492.3(NF1):c.7371del (p.His2457fs)
|
|
|
NM_001042492.3(NF1):c.7372A>T (p.Arg2458Ter)
|
|
|
NM_001042492.3(NF1):c.7373G>A (p.Arg2458Lys)
|
rs1555536130
|
|
NM_001042492.3(NF1):c.7373del (p.Arg2458fs)
|
rs1060500335
|
|
NM_001042492.3(NF1):c.7374A>C (p.Arg2458Ser)
|
rs2070105352
|
|
NM_001042492.3(NF1):c.7374A>G (p.Arg2458=)
|
|
|
NM_001042492.3(NF1):c.7374_7377del (p.Arg2458fs)
|
rs2070105179
|
|
NM_001042492.3(NF1):c.7376del (p.Lys2459fs)
|
rs2151574416
|
|
NM_001042492.3(NF1):c.7379C>A (p.Ser2460Ter)
|
|
|
NM_001042492.3(NF1):c.7379C>T (p.Ser2460Leu)
|
rs2151574431
|
|
NM_001042492.3(NF1):c.737C>A (p.Ala246Glu)
|
rs2066155612
|
|
NM_001042492.3(NF1):c.7380A>G (p.Ser2460=)
|
rs1597859662
|
|
NM_001042492.3(NF1):c.7381C>G (p.Leu2461Val)
|
rs1199046022
|
|
NM_001042492.3(NF1):c.7381C>T (p.Leu2461Phe)
|
rs1199046022
|
|
NM_001042492.3(NF1):c.7381CTT[2] (p.Leu2463del)
|
rs786203184
|
|
NM_001042492.3(NF1):c.7382T>A (p.Leu2461His)
|
rs2070105653
|
|
NM_001042492.3(NF1):c.7383T>C (p.Leu2461=)
|
rs1555536133
|
|
NM_001042492.3(NF1):c.7383del (p.Leu2462fs)
|
rs1135402905
|
|
NM_001042492.3(NF1):c.7384C>A (p.Leu2462Ile)
|
|
|
NM_001042492.3(NF1):c.7385T>A (p.Leu2462His)
|
|
|
NM_001042492.3(NF1):c.7385T>C (p.Leu2462Pro)
|
rs1060500302
|
|
NM_001042492.3(NF1):c.7386T>C (p.Leu2462=)
|
rs2151574445
|
|
NM_001042492.3(NF1):c.7387C>G (p.Leu2463Val)
|
rs2070105859
|
|
NM_001042492.3(NF1):c.7387C>T (p.Leu2463Phe)
|
|
|
NM_001042492.3(NF1):c.7389T>C (p.Leu2463=)
|
rs1032859497
|
|
NM_001042492.3(NF1):c.7389del (p.Thr2464fs)
|
|
|
NM_001042492.3(NF1):c.7390A>C (p.Thr2464Pro)
|
|
|
NM_001042492.3(NF1):c.7391C>T (p.Thr2464Ile)
|
rs1597859696
|
|
NM_001042492.3(NF1):c.7392T>C (p.Thr2464=)
|
|
|
NM_001042492.3(NF1):c.7392del (p.Asp2465fs)
|
rs786202180
|
|
NM_001042492.3(NF1):c.7393del (p.Asp2465fs)
|
rs1597859719
|
|
NM_001042492.3(NF1):c.7396A>C (p.Ile2466Leu)
|
rs748027595
|
|
NM_001042492.3(NF1):c.7396dup (p.Ile2466fs)
|
rs2151574478
|
|
NM_001042492.3(NF1):c.7399T>G (p.Ser2467Ala)
|
|
|
NM_001042492.3(NF1):c.7399dup (p.Ser2467fs)
|
|
|
NM_001042492.3(NF1):c.739G>T (p.Glu247Ter)
|
rs2143784954
|
|
NM_001042492.3(NF1):c.7400C>A (p.Ser2467Ter)
|
rs1555536135
|
|
NM_001042492.3(NF1):c.7400C>G (p.Ser2467Ter)
|
|
|
NM_001042492.3(NF1):c.7400C>T (p.Ser2467Leu)
|
rs1555536135
|
|
NM_001042492.3(NF1):c.7401A>G (p.Ser2467=)
|
rs2151574490
|
|
NM_001042492.3(NF1):c.7405G>T (p.Glu2469Ter)
|
rs2151574502
|
|
NM_001042492.3(NF1):c.7406A>G (p.Glu2469Gly)
|
rs1281096294
|
|
NM_001042492.3(NF1):c.7406A>T (p.Glu2469Val)
|
rs1281096294
|
|
NM_001042492.3(NF1):c.7409A>G (p.Asn2470Ser)
|
|
|
NM_001042492.3(NF1):c.7409del (p.Asn2470fs)
|
|
|
NM_001042492.3(NF1):c.7409dup (p.Asn2470fs)
|
rs1135402906
|
|
NM_001042492.3(NF1):c.740A>G (p.Glu247Gly)
|
rs864622385
|
|
NM_001042492.3(NF1):c.740A>T (p.Glu247Val)
|
|
|
NM_001042492.3(NF1):c.7411G>A (p.Val2471Ile)
|
rs876660126
|
|
NM_001042492.3(NF1):c.7412T>C (p.Val2471Ala)
|
|
|
NM_001042492.3(NF1):c.7414C>T (p.Pro2472Ser)
|
rs2151574519
|
|
NM_001042492.3(NF1):c.7414_7415del (p.Pro2472fs)
|
|
|
NM_001042492.3(NF1):c.7415C>G (p.Pro2472Arg)
|
rs786202184
|
|
NM_001042492.3(NF1):c.7415C>T (p.Pro2472Leu)
|
rs786202184
|
|
NM_001042492.3(NF1):c.7415del (p.Pro2472fs)
|
rs1597859768
|
|
NM_001042492.3(NF1):c.7416T>C (p.Pro2472=)
|
rs876659624
|
|
NM_001042492.3(NF1):c.7417A>G (p.Met2473Val)
|
rs1555536144
|
|
NM_001042492.3(NF1):c.7420G>T (p.Asp2474Tyr)
|
rs1405212000
|
|
NM_001042492.3(NF1):c.7420dup (p.Asp2474fs)
|
rs2151574538
|
|
NM_001042492.3(NF1):c.7421A>G (p.Asp2474Gly)
|
rs2070107259
|
|
NM_001042492.3(NF1):c.7421A>T (p.Asp2474Val)
|
|
|
NM_001042492.3(NF1):c.7421del (p.Asp2474fs)
|
rs2070107315
|
|
NM_001042492.3(NF1):c.7422T>C (p.Asp2474=)
|
|
|
NM_001042492.3(NF1):c.7423A>G (p.Thr2475Ala)
|
rs1597859789
|
|
NM_001042492.3(NF1):c.7423_7433del (p.Thr2475fs)
|
rs2151574551
|
|
NM_001042492.3(NF1):c.7424C>T (p.Thr2475Ile)
|
rs770532573
|
|
NM_001042492.3(NF1):c.7424del (p.Thr2475fs)
|
rs2151574567
|
|
NM_001042492.3(NF1):c.7426T>C (p.Tyr2476His)
|
rs864622745
|
|
NM_001042492.3(NF1):c.7428T>A (p.Tyr2476Ter)
|
rs181397225
|
|
NM_001042492.3(NF1):c.7428T>C (p.Tyr2476=)
|
rs181397225
|
|
NM_001042492.3(NF1):c.7428T>G (p.Tyr2476Ter)
|
|
|
NM_001042492.3(NF1):c.7429C>G (p.Pro2477Ala)
|
rs876658722
|
|
NM_001042492.3(NF1):c.7429C>T (p.Pro2477Ser)
|
rs876658722
|
|
NM_001042492.3(NF1):c.7437T>C (p.His2479=)
|
rs1355368926
|
|
NM_001042492.3(NF1):c.7437dup (p.His2480fs)
|
rs2151574617
|
|
NM_001042492.3(NF1):c.743del (p.Lys248fs)
|
|
|
NM_001042492.3(NF1):c.7442G>T (p.Gly2481Val)
|
rs786202540
|
|
NM_001042492.3(NF1):c.7442del (p.Gly2481fs)
|
rs2151574635
|
|
NM_001042492.3(NF1):c.7443T>C (p.Gly2481=)
|
rs2151574639
|
|
NM_001042492.3(NF1):c.7444G>A (p.Asp2482Asn)
|
|
|
NM_001042492.3(NF1):c.7446C>A (p.Asp2482Glu)
|
rs876660614
|
|
NM_001042492.3(NF1):c.7446C>T (p.Asp2482=)
|
|
|
NM_001042492.3(NF1):c.7446_7457+6del
|
rs2151574649
|
|
NM_001042492.3(NF1):c.7447C>T (p.Pro2483Ser)
|
rs1291550449
|
|
NM_001042492.3(NF1):c.7448C>G (p.Pro2483Arg)
|
rs2070108464
|
|
NM_001042492.3(NF1):c.7448C>T (p.Pro2483Leu)
|
rs2070108464
|
|
NM_001042492.3(NF1):c.7448dup (p.Ser2484fs)
|
|
|
NM_001042492.3(NF1):c.744G>A (p.Lys248=)
|
rs1597659771
|
|
NM_001042492.3(NF1):c.744G>T (p.Lys248Asn)
|
|
|
NM_001042492.3(NF1):c.7450_7451delinsAT (p.Ser2484Ile)
|
|
|
NM_001042492.3(NF1):c.7451C>T (p.Ser2484Phe)
|
|
|
NM_001042492.3(NF1):c.7452C>A (p.Ser2484=)
|
rs764502383
|
|
NM_001042492.3(NF1):c.7452C>T (p.Ser2484=)
|
|
|
NM_001042492.3(NF1):c.7452del (p.Tyr2485fs)
|
rs2070108683
|
|
NM_001042492.3(NF1):c.7453dup (p.Tyr2485fs)
|
rs2070108811
|
|
NM_001042492.3(NF1):c.7454A>C (p.Tyr2485Ser)
|
|
|
NM_001042492.3(NF1):c.7455T>A (p.Tyr2485Ter)
|
rs1597859871
|
|
NM_001042492.3(NF1):c.7455T>C (p.Tyr2485=)
|
rs1597859871
|
|
NM_001042492.3(NF1):c.7455_7456dup (p.Arg2486fs)
|
rs2151574678
|
|
NM_001042492.3(NF1):c.7456A>C (p.Arg2486=)
|
rs752162999
|
|
NM_001042492.3(NF1):c.7456_7457+7del
|
rs2070109067
|
|
NM_001042492.3(NF1):c.7457+13A>G
|
|
|
NM_001042492.3(NF1):c.7457+16C>A
|
|
|
NM_001042492.3(NF1):c.7457+17_7457+18del
|
rs2151574737
|
|
NM_001042492.3(NF1):c.7457+18C>A
|
|
|
NM_001042492.3(NF1):c.7457+18C>T
|
|
|
NM_001042492.3(NF1):c.7457+1G>A
|
rs2151574698
|
|
NM_001042492.3(NF1):c.7457+1G>C
|
rs2151574698
|
|
NM_001042492.3(NF1):c.7457+1G>T
|
rs2151574698
|
|
NM_001042492.3(NF1):c.7457+1del
|
|
|
NM_001042492.3(NF1):c.7457+1dup
|
rs2070109145
|
|
NM_001042492.3(NF1):c.7457+2T>G
|
rs2151574701
|
|
NM_001042492.3(NF1):c.7457+3A>G
|
rs1555536170
|
|
NM_001042492.3(NF1):c.7457+5G>A
|
rs1555536171
|
|
NM_001042492.3(NF1):c.7457+5G>C
|
|
|
NM_001042492.3(NF1):c.7457+7G>A
|
rs2151574711
|
|
NM_001042492.3(NF1):c.7457+8G>A
|
rs376147282
|
|
NM_001042492.3(NF1):c.7458-13T>G
|
rs537290095
|
|
NM_001042492.3(NF1):c.7458-14T>G
|
|
|
NM_001042492.3(NF1):c.7458-15G>C
|
|
|
NM_001042492.3(NF1):c.7458-16T>A
|
|
|
NM_001042492.3(NF1):c.7458-17T>C
|
|
|
NM_001042492.3(NF1):c.7458-17T>G
|
rs766585105
|
|
NM_001042492.3(NF1):c.7458-18A>G
|
rs371362605
|
|
NM_001042492.3(NF1):c.7458-19T>A
|
|
|
NM_001042492.3(NF1):c.7458-1G>A
|
rs1597862012
|
|
NM_001042492.3(NF1):c.7458-1G>C
|
rs1597862012
|
|
NM_001042492.3(NF1):c.7458-1G>T
|
|
|
NM_001042492.3(NF1):c.7458-1_7459delinsTTT
|
rs2151576885
|
|
NM_001042492.3(NF1):c.7458-2A>C
|
|
|
NM_001042492.3(NF1):c.7458-2_7459del
|
rs1597862010
|
|
NM_001042492.3(NF1):c.7458-339G>A
|
rs2151576361
|
|
NM_001042492.3(NF1):c.7458-3C>A
|
rs1158267419
|
|
NM_001042492.3(NF1):c.7458-3C>G
|
rs1158267419
|
|
NM_001042492.3(NF1):c.7458-4T>C
|
rs2151576876
|
|
NM_001042492.3(NF1):c.7458-4T>G
|
|
|
NM_001042492.3(NF1):c.7458-5T>G
|
|
|
NM_001042492.3(NF1):c.7458-6T>G
|
|
|
NM_001042492.3(NF1):c.7458-7C>G
|
|
|
NM_001042492.3(NF1):c.7458-7_7459delinsT
|
rs1555536334
|
|
NM_001042492.3(NF1):c.7458-9A>C
|
rs2151576863
|
|
NM_001042492.3(NF1):c.7458G>A (p.Arg2486=)
|
rs2070166426
|
|
NM_001042492.3(NF1):c.7458G>T (p.Arg2486Ser)
|
rs2070166426
|
|
NM_001042492.3(NF1):c.7458_7462delinsTCT (p.Arg2486fs)
|
rs2070166483
|
|
NM_001042492.3(NF1):c.7459A>G (p.Thr2487Ala)
|
rs2070166547
|
|
NM_001042492.3(NF1):c.745C>G (p.Leu249Val)
|
rs2143785034
|
|
NM_001042492.3(NF1):c.7460C>T (p.Thr2487Ile)
|
rs2070166606
|
|
NM_001042492.3(NF1):c.7461A>C (p.Thr2487=)
|
rs149924365
|
|
NM_001042492.3(NF1):c.7461A>T (p.Thr2487=)
|
rs149924365
|
|
NM_001042492.3(NF1):c.7462C>G (p.Leu2488Val)
|
rs876660345
|
|
NM_001042492.3(NF1):c.7463T>C (p.Leu2488Pro)
|
rs2070166801
|
|
NM_001042492.3(NF1):c.7465A>G (p.Lys2489Glu)
|
rs1555536338
|
|
NM_001042492.3(NF1):c.7465A>T (p.Lys2489Ter)
|
rs1555536338
|
|
NM_001042492.3(NF1):c.7466A>C (p.Lys2489Thr)
|
rs864622249
|
|
NM_001042492.3(NF1):c.7466A>G (p.Lys2489Arg)
|
rs864622249
|
|
NM_001042492.3(NF1):c.7466del (p.Lys2489fs)
|
rs2151576904
|
|
NM_001042492.3(NF1):c.7467G>A (p.Lys2489=)
|
|
|
NM_001042492.3(NF1):c.746T>C (p.Leu249Pro)
|
rs1567826623
|
|
NM_001042492.3(NF1):c.746T>G (p.Leu249Arg)
|
rs1567826623
|
|
NM_001042492.3(NF1):c.746_747delinsCT (p.Leu249Pro)
|
|
|
NM_001042492.3(NF1):c.7470G>A (p.Glu2490=)
|
rs1555536339
|
|
NM_001042492.3(NF1):c.7472C>T (p.Thr2491Ile)
|
rs2151576935
|
|
NM_001042492.3(NF1):c.7474C>T (p.Gln2492Ter)
|
rs1555536340
|
|
NM_001042492.3(NF1):c.7475A>T (p.Gln2492Leu)
|
|
|
NM_001042492.3(NF1):c.7476G>A (p.Gln2492=)
|
|
|
NM_001042492.3(NF1):c.7477C>T (p.Pro2493Ser)
|
rs2070167112
|
|
NM_001042492.3(NF1):c.7478C>T (p.Pro2493Leu)
|
rs2151576963
|
|
NM_001042492.3(NF1):c.7481G>A (p.Trp2494Ter)
|
rs2070167232
|
|
NM_001042492.3(NF1):c.7482G>A (p.Trp2494Ter)
|
rs863224493
|
|
NM_001042492.3(NF1):c.7485C>G (p.Ser2495=)
|
|
|
NM_001042492.3(NF1):c.7487C>T (p.Ser2496Phe)
|
rs371773406
|
|
NM_001042492.3(NF1):c.7490C>T (p.Pro2497Leu)
|
rs1555536347
|
|
NM_001042492.3(NF1):c.7492A>T (p.Lys2498Ter)
|
|
|
NM_001042492.3(NF1):c.7494A>C (p.Lys2498Asn)
|
rs2070167780
|
|
NM_001042492.3(NF1):c.7495_7496delinsCT (p.Gly2499Leu)
|
rs2070167904
|
|
NM_001042492.3(NF1):c.7496G>A (p.Gly2499Asp)
|
rs375176282
|
|
NM_001042492.3(NF1):c.7496_7497insA (p.Ser2500fs)
|
|
|
NM_001042492.3(NF1):c.7496del (p.Gly2499fs)
|
rs1555536352
|
|
NM_001042492.3(NF1):c.7499C>A (p.Ser2500Tyr)
|
rs2070168165
|
|
NM_001042492.3(NF1):c.749T>C (p.Phe250Ser)
|
|
|
NM_001042492.3(NF1):c.74C>G (p.Thr25Arg)
|
rs1555604874
|
|
NM_001042492.3(NF1):c.74C>T (p.Thr25Ile)
|
rs1555604874
|
|
NM_001042492.3(NF1):c.7500T>C (p.Ser2500=)
|
|
|
NM_001042492.3(NF1):c.7501G>T (p.Glu2501Ter)
|
|
|
NM_001042492.3(NF1):c.7504G>C (p.Gly2502Arg)
|
rs1555536357
|
|
NM_001042492.3(NF1):c.7504G>T (p.Gly2502Ter)
|
rs1555536357
|
|
NM_001042492.3(NF1):c.7505G>T (p.Gly2502Val)
|
|
|
NM_001042492.3(NF1):c.7505del (p.Gly2502fs)
|
rs1555536358
|
|
NM_001042492.3(NF1):c.7505dup (p.Tyr2503fs)
|
|
|
NM_001042492.3(NF1):c.7506A>T (p.Gly2502=)
|
rs775258088
|
|
NM_001042492.3(NF1):c.7508A>G (p.Tyr2503Cys)
|
|
|
NM_001042492.3(NF1):c.7508_7511del (p.Tyr2503fs)
|
|
|
NM_001042492.3(NF1):c.7508del (p.Tyr2503fs)
|
|
|
NM_001042492.3(NF1):c.7509C>A (p.Tyr2503Ter)
|
rs1555536359
|
|
NM_001042492.3(NF1):c.7509C>G (p.Tyr2503Ter)
|
rs1555536359
|
|
NM_001042492.3(NF1):c.7509C>T (p.Tyr2503=)
|
rs1555536359
|
|
NM_001042492.3(NF1):c.750T>A (p.Phe250Leu)
|
rs2143785091
|
|
NM_001042492.3(NF1):c.750del (p.Phe250fs)
|
rs1567826633
|
|
NM_001042492.3(NF1):c.7510C>A (p.Leu2504Ile)
|
rs876658333
|
|
NM_001042492.3(NF1):c.7510C>T (p.Leu2504Phe)
|
rs876658333
|
|
NM_001042492.3(NF1):c.7510del (p.Ala2505fs)
|
|
|
NM_001042492.3(NF1):c.7511T>C (p.Leu2504Pro)
|
rs2151577076
|
|
NM_001042492.3(NF1):c.7512T>A (p.Leu2504=)
|
rs1597862110
|
|
NM_001042492.3(NF1):c.7513G>C (p.Ala2505Pro)
|
rs786202955
|
|
NM_001042492.3(NF1):c.7514C>G (p.Ala2505Gly)
|
rs1567625126
|
|
NM_001042492.3(NF1):c.7514C>T (p.Ala2505Val)
|
rs1567625126
|
|
NM_001042492.3(NF1):c.7517C>A (p.Ala2506Asp)
|
|
|
NM_001042492.3(NF1):c.7519A>G (p.Thr2507Ala)
|
rs1597862129
|
|
NM_001042492.3(NF1):c.7521C>T (p.Thr2507=)
|
rs2151577127
|
|
NM_001042492.3(NF1):c.7524_7525del (p.Pro2509fs)
|
rs2151577142
|
|
NM_001042492.3(NF1):c.7526C>G (p.Pro2509Arg)
|
rs786202146
|
|
NM_001042492.3(NF1):c.7526C>T (p.Pro2509Leu)
|
rs786202146
|
|
NM_001042492.3(NF1):c.7526dup (p.Thr2510fs)
|
rs2151577150
|
|
NM_001042492.3(NF1):c.7528dup (p.Thr2510fs)
|
|
|
NM_001042492.3(NF1):c.752A>G (p.Asp251Gly)
|
rs2143785113
|
|
NM_001042492.3(NF1):c.752_753insGG (p.Asp251fs)
|
|
|
NM_001042492.3(NF1):c.7530T>A (p.Thr2510=)
|
rs1597862150
|
|
NM_001042492.3(NF1):c.7530T>G (p.Thr2510=)
|
|
|
NM_001042492.3(NF1):c.7531G>A (p.Val2511Ile)
|
|
|
NM_001042492.3(NF1):c.7531_7532del (p.Val2511fs)
|
rs2070169785
|
|
NM_001042492.3(NF1):c.7533C>G (p.Val2511=)
|
rs760733171
|
|
NM_001042492.3(NF1):c.7534_7537dup (p.Gln2513fs)
|
rs2070170042
|
|
NM_001042492.3(NF1):c.7537C>A (p.Gln2513Lys)
|
|
|
NM_001042492.3(NF1):c.7537C>T (p.Gln2513Ter)
|
rs2070170274
|
|
NM_001042492.3(NF1):c.7539G>C (p.Gln2513His)
|
rs2070170345
|
|
NM_001042492.3(NF1):c.753C>G (p.Asp251Glu)
|
rs1567826636
|
|
NM_001042492.3(NF1):c.753C>T (p.Asp251=)
|
rs1567826636
|
|
NM_001042492.3(NF1):c.7540A>G (p.Thr2514Ala)
|
rs1597862168
|
|
NM_001042492.3(NF1):c.7542C>A (p.Thr2514=)
|
|
|
NM_001042492.3(NF1):c.7542C>T (p.Thr2514=)
|
rs1444018213
|
|
NM_001042492.3(NF1):c.7543A>C (p.Ser2515Arg)
|
|
|
NM_001042492.3(NF1):c.7543A>G (p.Ser2515Gly)
|
rs2070170553
|
|
NM_001042492.3(NF1):c.7544G>T (p.Ser2515Ile)
|
rs1597862174
|
|
NM_001042492.3(NF1):c.7544del (p.Ser2515fs)
|
rs2070170648
|
|
NM_001042492.3(NF1):c.7546C>T (p.Pro2516Ser)
|
rs753977783
|
|
NM_001042492.3(NF1):c.7547C>A (p.Pro2516His)
|
|
|
NM_001042492.3(NF1):c.7548C>G (p.Pro2516=)
|
|
|
NM_001042492.3(NF1):c.7548C>T (p.Pro2516=)
|
rs2151577235
|
|
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)
|
rs866445127
|
|
NM_001042492.3(NF1):c.754T>C (p.Leu252=)
|
rs2143785138
|
|
NM_001042492.3(NF1):c.754T>G (p.Leu252Val)
|
|
|
NM_001042492.3(NF1):c.7550G>A (p.Arg2517Gln)
|
rs755260088
|
|
NM_001042492.3(NF1):c.7550G>C (p.Arg2517Pro)
|
|
|
NM_001042492.3(NF1):c.7553C>A (p.Ala2518Asp)
|
rs1060500265
|
|
NM_001042492.3(NF1):c.7554C>A (p.Ala2518=)
|
|
|
NM_001042492.3(NF1):c.7554del (p.Arg2519fs)
|
|
|
NM_001042492.3(NF1):c.7557G>A (p.Arg2519=)
|
rs2151577269
|
|
NM_001042492.3(NF1):c.755T>A (p.Leu252Ter)
|
rs2143785161
|
|
NM_001042492.3(NF1):c.755T>C (p.Leu252Ser)
|
|
|
NM_001042492.3(NF1):c.755TGG[1] (p.Val253del)
|
rs1060500323
|
|
NM_001042492.3(NF1):c.7560A>G (p.Lys2520=)
|
rs1597862203
|
|
NM_001042492.3(NF1):c.7563del (p.Ser2521_Met2522insTer)
|
|
|
NM_001042492.3(NF1):c.7566G>A (p.Met2522Ile)
|
rs2070171212
|
|
NM_001042492.3(NF1):c.7568G>A (p.Ser2523Asn)
|
|
|
NM_001042492.3(NF1):c.7569C>T (p.Ser2523=)
|
rs786201476
|
|
NM_001042492.3(NF1):c.756G>A (p.Leu252=)
|
|
|
NM_001042492.3(NF1):c.7570C>G (p.Leu2524Val)
|
|
|
NM_001042492.3(NF1):c.7570C>T (p.Leu2524=)
|
rs1555536366
|
|
NM_001042492.3(NF1):c.7573_7574insT (p.Asp2525fs)
|
rs2070171459
|
|
NM_001042492.3(NF1):c.7579G>A (p.Gly2527Arg)
|
rs2151577333
|
|
NM_001042492.3(NF1):c.757G>A (p.Val253Met)
|
rs786203607
|
|
NM_001042492.3(NF1):c.757G>C (p.Val253Leu)
|
rs786203607
|
|
NM_001042492.3(NF1):c.757G>T (p.Val253Leu)
|
rs786203607
|
|
NM_001042492.3(NF1):c.757dup (p.Val253fs)
|
rs2143785195
|
|
NM_001042492.3(NF1):c.7580G>A (p.Gly2527Glu)
|
rs2151577339
|
|
NM_001042492.3(NF1):c.7581G>C (p.Gly2527=)
|
rs1555536369
|
|
NM_001042492.3(NF1):c.7581del (p.Gln2528fs)
|
rs878853917
|
|
NM_001042492.3(NF1):c.7582C>A (p.Gln2528Lys)
|
|
|
NM_001042492.3(NF1):c.7582C>T (p.Gln2528Ter)
|
rs2070171679
|
|
NM_001042492.3(NF1):c.7582del (p.Gln2528fs)
|
|
|
NM_001042492.3(NF1):c.7586del (p.Pro2529fs)
|
|
|
NM_001042492.3(NF1):c.7587T>G (p.Pro2529=)
|
|
|
NM_001042492.3(NF1):c.7588T>C (p.Ser2530Pro)
|
rs1567625190
|
|
NM_001042492.3(NF1):c.7589del (p.Ser2530fs)
|
|
|
NM_001042492.3(NF1):c.758T>A (p.Val253Glu)
|
rs2066156105
|
|
NM_001042492.3(NF1):c.7590T>C (p.Ser2530=)
|
rs1597862243
|
|
NM_001042492.3(NF1):c.7591C>T (p.Gln2531Ter)
|
rs1555536372
|
|
NM_001042492.3(NF1):c.7593G>C (p.Gln2531His)
|
rs2070172055
|
|
NM_001042492.3(NF1):c.7594G>A (p.Ala2532Thr)
|
rs1555536373
|
|
NM_001042492.3(NF1):c.7594del (p.Ala2532fs)
|
rs2151577375
|
|
NM_001042492.3(NF1):c.7596C>T (p.Ala2532=)
|
rs864622517
|
|
NM_001042492.3(NF1):c.7597A>G (p.Asn2533Asp)
|
|
|
NM_001042492.3(NF1):c.7597A>T (p.Asn2533Tyr)
|
rs2151577390
|
|
NM_001042492.3(NF1):c.7598A>C (p.Asn2533Thr)
|
|
|
NM_001042492.3(NF1):c.7599C>T (p.Asn2533=)
|
rs1597862269
|
|
NM_001042492.3(NF1):c.75A>C (p.Thr25=)
|
rs768754175
|
|
NM_001042492.3(NF1):c.7602_7603insG (p.Lys2535fs)
|
|
|
NM_001042492.3(NF1):c.7602dup (p.Lys2535Ter)
|
rs2070172428
|
|
NM_001042492.3(NF1):c.7603A>T (p.Lys2535Ter)
|
rs2070172476
|
|
NM_001042492.3(NF1):c.7605del (p.Lys2536fs)
|
|
|
NM_001042492.3(NF1):c.7607del (p.Lys2536fs)
|
rs1060500327
|
|
NM_001042492.3(NF1):c.7608G>A (p.Lys2536=)
|
rs1597862283
|
|
NM_001042492.3(NF1):c.7608G>T (p.Lys2536Asn)
|
rs1597862283
|
|
NM_001042492.3(NF1):c.7608del (p.Lys2536fs)
|
rs2070172706
|
|
NM_001042492.3(NF1):c.7609T>C (p.Leu2537=)
|
rs748843392
|
|
NM_001042492.3(NF1):c.7609T>G (p.Leu2537Val)
|
|
|
NM_001042492.3(NF1):c.7610del (p.Leu2537fs)
|
rs2151577433
|
|
NM_001042492.3(NF1):c.7611G>A (p.Leu2537=)
|
rs1597862289
|
|
NM_001042492.3(NF1):c.7612del (p.Gly2539fs)
|
rs1597862293
|
|
NM_001042492.3(NF1):c.7614T>C (p.Leu2538=)
|
rs1555536374
|
|
NM_001042492.3(NF1):c.7615+11C>A
|
|
|
NM_001042492.3(NF1):c.7615+12T>G
|
|
|
NM_001042492.3(NF1):c.7615+15A>C
|
rs2151577502
|
|
NM_001042492.3(NF1):c.7615+16T>C
|
|
|
NM_001042492.3(NF1):c.7615+18A>G
|
rs772484540
|
|
NM_001042492.3(NF1):c.7615+1G>A
|
rs1555536380
|
|
NM_001042492.3(NF1):c.7615+1G>T
|
rs1555536380
|
|
NM_001042492.3(NF1):c.7615+1_7615+5dup
|
|
|
NM_001042492.3(NF1):c.7615+1del
|
rs1355691590
|
|
NM_001042492.3(NF1):c.7615+20G>A
|
|
|
NM_001042492.3(NF1):c.7615+5G>A
|
rs1555536382
|
|
NM_001042492.3(NF1):c.7615+6T>C
|
|
|
NM_001042492.3(NF1):c.7615+8T>C
|
rs1555536383
|
|
NM_001042492.3(NF1):c.7615+9A>G
|
rs748539880
|
|
NM_001042492.3(NF1):c.7615+9A>T
|
rs748539880
|
|
NM_001042492.3(NF1):c.7615G>A (p.Gly2539Arg)
|
|
|
NM_001042492.3(NF1):c.7615G>T (p.Gly2539Ter)
|
|
|
NM_001042492.3(NF1):c.7616-13C>G
|
|
|
NM_001042492.3(NF1):c.7616-18C>T
|
|
|
NM_001042492.3(NF1):c.7616-1G>A
|
|
|
NM_001042492.3(NF1):c.7616-1G>C
|
|
|
NM_001042492.3(NF1):c.7616-4A>T
|
rs761675429
|
|
NM_001042492.3(NF1):c.7616-5T>C
|
rs1597865732
|
|
NM_001042492.3(NF1):c.7616-9T>C
|
rs1555536631
|
|
NM_001042492.3(NF1):c.7616G>C (p.Gly2539Ala)
|
rs1597865736
|
|
NM_001042492.3(NF1):c.7618A>G (p.Thr2540Ala)
|
rs1555536632
|
|
NM_001042492.3(NF1):c.7619C>A (p.Thr2540Lys)
|
rs1555536633
|
|
NM_001042492.3(NF1):c.7619del (p.Thr2540fs)
|
rs2151580997
|
|
NM_001042492.3(NF1):c.761A>G (p.Asp254Gly)
|
rs2066156209
|
|
NM_001042492.3(NF1):c.761_764del (p.Asp254fs)
|
|
|
NM_001042492.3(NF1):c.7623_7625del (p.Lys2542del)
|
rs2151581007
|
|
NM_001042492.3(NF1):c.7628del (p.Ser2543fs)
|
rs2070273084
|
|
NM_001042492.3(NF1):c.7629T>C (p.Ser2543=)
|
|
|
NM_001042492.3(NF1):c.7632del (p.Phe2544fs)
|
rs2151581029
|
|
NM_001042492.3(NF1):c.7635T>A (p.Asp2545Glu)
|
rs876659530
|
|
NM_001042492.3(NF1):c.7637A>C (p.His2546Pro)
|
|
|
NM_001042492.3(NF1):c.7638C>T (p.His2546=)
|
rs2151581056
|
|
NM_001042492.3(NF1):c.7639T>C (p.Leu2547=)
|
rs1597865750
|
|
NM_001042492.3(NF1):c.7639_7646del (p.Leu2547fs)
|
|
|
NM_001042492.3(NF1):c.763G>A (p.Gly255Ser)
|
rs773207833
|
|
NM_001042492.3(NF1):c.7642A>G (p.Ile2548Val)
|
rs1555536636
|
|
NM_001042492.3(NF1):c.7642A>T (p.Ile2548Leu)
|
|
|
NM_001042492.3(NF1):c.7644A>G (p.Ile2548Met)
|
rs2070273405
|
|
NM_001042492.3(NF1):c.7644dup (p.Ser2549fs)
|
rs2151581069
|
|
NM_001042492.3(NF1):c.7646C>A (p.Ser2549Ter)
|
rs2070273520
|
|
NM_001042492.3(NF1):c.7646C>G (p.Ser2549Ter)
|
|
|
NM_001042492.3(NF1):c.7648G>C (p.Asp2550His)
|
rs2151581078
|
|
NM_001042492.3(NF1):c.764del (p.Gly255fs)
|
|
|
NM_001042492.3(NF1):c.7651A>G (p.Thr2551Ala)
|
rs2151581089
|
|
NM_001042492.3(NF1):c.7652_7653del (p.Thr2551fs)
|
rs2151581084
|
|
NM_001042492.3(NF1):c.7653A>C (p.Thr2551=)
|
|
|
NM_001042492.3(NF1):c.7653A>G (p.Thr2551=)
|
|
|
NM_001042492.3(NF1):c.7655del (p.Lys2552fs)
|
|
|
NM_001042492.3(NF1):c.7656G>A (p.Lys2552=)
|
rs2151581103
|
|
NM_001042492.3(NF1):c.7657G>C (p.Ala2553Pro)
|
rs1555536644
|
|
NM_001042492.3(NF1):c.7657G>T (p.Ala2553Ser)
|
rs1555536644
|
|
NM_001042492.3(NF1):c.7660C>T (p.Pro2554Ser)
|
|
|
NM_001042492.3(NF1):c.7660_7667del (p.Pro2554fs)
|
|
|
NM_001042492.3(NF1):c.7662_7664delinsAG (p.Lys2555fs)
|
rs1567626632
|
|
NM_001042492.3(NF1):c.7663A>G (p.Lys2555Glu)
|
rs786203792
|
|
NM_001042492.3(NF1):c.7666dup (p.Arg2556fs)
|
rs2151581134
|
|
NM_001042492.3(NF1):c.7667G>T (p.Arg2556Met)
|
rs1597865787
|
|
NM_001042492.3(NF1):c.7669C>G (p.Gln2557Glu)
|
rs2151581157
|
|
NM_001042492.3(NF1):c.7670A>C (p.Gln2557Pro)
|
rs2070273995
|
|
NM_001042492.3(NF1):c.7671A>G (p.Gln2557=)
|
|
|
NM_001042492.3(NF1):c.7672G>T (p.Glu2558Ter)
|
|
|
NM_001042492.3(NF1):c.7676T>C (p.Met2559Thr)
|
rs2070274119
|
|
NM_001042492.3(NF1):c.7682C>A (p.Ser2561Ter)
|
rs2070274228
|
|
NM_001042492.3(NF1):c.7682C>G (p.Ser2561Ter)
|
rs2070274228
|
|
NM_001042492.3(NF1):c.7683A>C (p.Ser2561=)
|
rs1555536646
|
|
NM_001042492.3(NF1):c.7683A>G (p.Ser2561=)
|
rs1555536646
|
|
NM_001042492.3(NF1):c.7685G>T (p.Gly2562Val)
|
rs2070274448
|
|
NM_001042492.3(NF1):c.7686G>A (p.Gly2562=)
|
|
|
NM_001042492.3(NF1):c.7687A>C (p.Ile2563Leu)
|
rs1555536648
|
|
NM_001042492.3(NF1):c.7687A>G (p.Ile2563Val)
|
rs1555536648
|
|
NM_001042492.3(NF1):c.7689C>A (p.Ile2563=)
|
rs2151581233
|
|
NM_001042492.3(NF1):c.7689C>T (p.Ile2563=)
|
|
|
NM_001042492.3(NF1):c.768T>G (p.Phe256Leu)
|
rs1597659838
|
|
NM_001042492.3(NF1):c.7693A>G (p.Thr2565Ala)
|
rs786202548
|
|
NM_001042492.3(NF1):c.7694C>T (p.Thr2565Ile)
|
|
|
NM_001042492.3(NF1):c.7695A>G (p.Thr2565=)
|
rs753391618
|
|
NM_001042492.3(NF1):c.7696C>G (p.Pro2566Ala)
|
rs2151581259
|
|
NM_001042492.3(NF1):c.7697C>T (p.Pro2566Leu)
|
rs1218492217
|
|
NM_001042492.3(NF1):c.769G>C (p.Ala257Pro)
|
rs2066156448
|
|
NM_001042492.3(NF1):c.76G>A (p.Gly26Arg)
|
rs778973022
|
|
NM_001042492.3(NF1):c.7700C>A (p.Pro2567His)
|
rs754511534
|
|
NM_001042492.3(NF1):c.7700C>G (p.Pro2567Arg)
|
rs754511534
|
|
NM_001042492.3(NF1):c.7701C>G (p.Pro2567=)
|
rs747806648
|
|
NM_001042492.3(NF1):c.7701C>T (p.Pro2567=)
|
rs747806648
|
|
NM_001042492.3(NF1):c.7701del (p.Lys2568_Met2569insTer)
|
rs1060500295
|
|
NM_001042492.3(NF1):c.7701dup (p.Lys2568fs)
|
rs1060500295
|
|
NM_001042492.3(NF1):c.7703A>C (p.Lys2568Thr)
|
|
|
NM_001042492.3(NF1):c.7704A>C (p.Lys2568Asn)
|
|
|
NM_001042492.3(NF1):c.7705A>G (p.Met2569Val)
|
rs2070275038
|
|
NM_001042492.3(NF1):c.7706T>C (p.Met2569Thr)
|
rs2151581300
|
|
NM_001042492.3(NF1):c.7706T>G (p.Met2569Arg)
|
|
|
NM_001042492.3(NF1):c.7709G>A (p.Arg2570Lys)
|
rs2151581311
|
|
NM_001042492.3(NF1):c.770C>G (p.Ala257Gly)
|
|
|
NM_001042492.3(NF1):c.770C>T (p.Ala257Val)
|
rs2143785365
|
|
NM_001042492.3(NF1):c.7710G>A (p.Arg2570=)
|
|
|
NM_001042492.3(NF1):c.7711A>C (p.Arg2571=)
|
|
|
NM_001042492.3(NF1):c.7712G>A (p.Arg2571Lys)
|
rs1597865842
|
|
NM_001042492.3(NF1):c.7712G>C (p.Arg2571Thr)
|
|
|
NM_001042492.3(NF1):c.7714G>C (p.Val2572Leu)
|
rs1555536652
|
|
NM_001042492.3(NF1):c.7716A>G (p.Val2572=)
|
|
|
NM_001042492.3(NF1):c.7717G>A (p.Ala2573Thr)
|
rs1555536654
|
|
NM_001042492.3(NF1):c.7718C>A (p.Ala2573Glu)
|
rs2070275358
|
|
NM_001042492.3(NF1):c.7719A>G (p.Ala2573=)
|
|
|
NM_001042492.3(NF1):c.7719A>T (p.Ala2573=)
|
rs2151581336
|
|
NM_001042492.3(NF1):c.771T>C (p.Ala257=)
|
rs766932517
|
|
NM_001042492.3(NF1):c.7724C>T (p.Thr2575Ile)
|
rs1597865850
|
|
NM_001042492.3(NF1):c.7724_7725dup (p.Asp2576fs)
|
rs1597865858
|
|
NM_001042492.3(NF1):c.7725_7726del (p.Asp2576fs)
|
rs2070275502
|
|
NM_001042492.3(NF1):c.7726_7729del (p.Asp2576fs)
|
|
|
NM_001042492.3(NF1):c.7727A>G (p.Asp2576Gly)
|
rs2151581354
|
|
NM_001042492.3(NF1):c.7728T>C (p.Asp2576=)
|
rs876658892
|
|
NM_001042492.3(NF1):c.7729T>G (p.Tyr2577Asp)
|
|
|
NM_001042492.3(NF1):c.7731T>C (p.Tyr2577=)
|
|
|
NM_001042492.3(NF1):c.7735A>G (p.Met2579Val)
|
|
|
NM_001042492.3(NF1):c.7738+10A>G
|
rs759661081
|
|
NM_001042492.3(NF1):c.7738+10A>T
|
rs759661081
|
|
NM_001042492.3(NF1):c.7738+16T>C
|
|
|
NM_001042492.3(NF1):c.7738+18G>A
|
|
|
NM_001042492.3(NF1):c.7738+1G>A
|
|
|
NM_001042492.3(NF1):c.7738+3G>A
|
rs771445239
|
|
NM_001042492.3(NF1):c.7738+6A>T
|
rs2070275951
|
|
NM_001042492.3(NF1):c.7738+8del
|
rs1597865876
|
|
NM_001042492.3(NF1):c.7738+8dup
|
|
|
NM_001042492.3(NF1):c.7738+9C>A
|
|
|
NM_001042492.3(NF1):c.7738+9C>T
|
|
|
NM_001042492.3(NF1):c.7739-10C>G
|
rs1256512888
|
|
NM_001042492.3(NF1):c.7739-11T>C
|
|
|
NM_001042492.3(NF1):c.7739-11T>G
|
|
|
NM_001042492.3(NF1):c.7739-14C>G
|
|
|
NM_001042492.3(NF1):c.7739-14C>T
|
|
|
NM_001042492.3(NF1):c.7739-16C>T
|
rs752306621
|
|
NM_001042492.3(NF1):c.7739-17T>G
|
|
|
NM_001042492.3(NF1):c.7739-19_7739-11del
|
|
|
NM_001042492.3(NF1):c.7739-1G>A
|
|
|
NM_001042492.3(NF1):c.7739-20A>G
|
|
|
NM_001042492.3(NF1):c.7739-2A>G
|
rs2151582146
|
|
NM_001042492.3(NF1):c.7739-3C>A
|
rs747382969
|
|
NM_001042492.3(NF1):c.7739-3C>G
|
rs747382969
|
|
NM_001042492.3(NF1):c.7739-3C>T
|
rs747382969
|
|
NM_001042492.3(NF1):c.7739-3_7743delCAGAAACT
|
|
|
NM_001042492.3(NF1):c.7739-5_7740dup
|
|
|
NM_001042492.3(NF1):c.7739-7G>C
|
|
|
NM_001042492.3(NF1):c.7739-7G>T
|
rs1446289520
|
|
NM_001042492.3(NF1):c.7739-9T>G
|
rs2151582112
|
|
NM_001042492.3(NF1):c.7741A>G (p.Thr2581Ala)
|
|
|
NM_001042492.3(NF1):c.7741A>T (p.Thr2581Ser)
|
rs1597866308
|
|
NM_001042492.3(NF1):c.7743T>C (p.Thr2581=)
|
rs2151582163
|
|
NM_001042492.3(NF1):c.7744C>G (p.Gln2582Glu)
|
|
|
NM_001042492.3(NF1):c.7744C>T (p.Gln2582Ter)
|
|
|
NM_001042492.3(NF1):c.7744_7745insCTT (p.Gln2582delinsProTer)
|
|
|
NM_001042492.3(NF1):c.7745A>G (p.Gln2582Arg)
|
rs2151582173
|
|
NM_001042492.3(NF1):c.7745_7751del (p.Gln2582fs)
|
|
|
NM_001042492.3(NF1):c.7745del (p.Gln2582fs)
|
rs2151582179
|
|
NM_001042492.3(NF1):c.7745dup (p.Arg2583fs)
|
rs1555536683
|
|
NM_001042492.3(NF1):c.7747A>C (p.Arg2583=)
|
rs2151582187
|
|
NM_001042492.3(NF1):c.7747_7748del (p.Arg2583fs)
|
rs1135402907
|
|
NM_001042492.3(NF1):c.7748G>A (p.Arg2583Lys)
|
rs2151582191
|
|
NM_001042492.3(NF1):c.7749del (p.Ile2584fs)
|
rs2151582195
|
|
NM_001042492.3(NF1):c.774A>G (p.Glu258=)
|
rs1555608947
|
|
NM_001042492.3(NF1):c.7751T>G (p.Ile2584Ser)
|
rs1597866331
|
|
NM_001042492.3(NF1):c.7752T>C (p.Ile2584=)
|
rs2151582205
|
|
NM_001042492.3(NF1):c.7753del (p.Ser2585fs)
|
rs1555536685
|
|
NM_001042492.3(NF1):c.7753dup (p.Ser2585fs)
|
rs1555536685
|
|
NM_001042492.3(NF1):c.7754C>T (p.Ser2585Phe)
|
|
|
NM_001042492.3(NF1):c.7755del (p.Ser2586fs)
|
|
|
NM_001042492.3(NF1):c.7757C>G (p.Ser2586Ter)
|
|
|
NM_001042492.3(NF1):c.7757_7758dup (p.Ser2587fs)
|
rs1597866350
|
|
NM_001042492.3(NF1):c.7758A>G (p.Ser2586=)
|
|
|
NM_001042492.3(NF1):c.7758A>T (p.Ser2586=)
|
rs876658564
|
|
NM_001042492.3(NF1):c.7759T>A (p.Ser2587Thr)
|
|
|
NM_001042492.3(NF1):c.7759del (p.Ser2587fs)
|
|
|
NM_001042492.3(NF1):c.7760C>G (p.Ser2587Ter)
|
rs1131691090
|
|
NM_001042492.3(NF1):c.7761A>G (p.Ser2587=)
|
rs1597866360
|
|
NM_001042492.3(NF1):c.7762C>G (p.Gln2588Glu)
|
|
|
NM_001042492.3(NF1):c.7762C>T (p.Gln2588Ter)
|
rs1555536687
|
|
NM_001042492.3(NF1):c.7763A>G (p.Gln2588Arg)
|
|
|
NM_001042492.3(NF1):c.7763A>T (p.Gln2588Leu)
|
|
|
NM_001042492.3(NF1):c.7764A>G (p.Gln2588=)
|
rs2151582238
|
|
NM_001042492.3(NF1):c.7764del (p.Gln2588fs)
|
rs2151582236
|
|
NM_001042492.3(NF1):c.7765C>T (p.Gln2589Ter)
|
rs1555536689
|
|
NM_001042492.3(NF1):c.7767G>C (p.Gln2589His)
|
rs587782168
|
|
NM_001042492.3(NF1):c.7768C>T (p.His2590Tyr)
|
rs1555536690
|
|
NM_001042492.3(NF1):c.776G>A (p.Ser259Asn)
|
rs2066156591
|
|
NM_001042492.3(NF1):c.776del (p.Ser259fs)
|
rs2143785464
|
|
NM_001042492.3(NF1):c.7770C>T (p.His2590=)
|
rs1060503906
|
|
NM_001042492.3(NF1):c.7773A>G (p.Pro2591=)
|
|
|
NM_001042492.3(NF1):c.7773del (p.His2592fs)
|
|
|
NM_001042492.3(NF1):c.7774C>A (p.His2592Asn)
|
rs749460130
|
|
NM_001042492.3(NF1):c.7775A>G (p.His2592Arg)
|
|
|
NM_001042492.3(NF1):c.7775_7781dup (p.Lys2595fs)
|
|
|
NM_001042492.3(NF1):c.7776T>A (p.His2592Gln)
|
rs1555536692
|
|
NM_001042492.3(NF1):c.7776T>G (p.His2592Gln)
|
|
|
NM_001042492.3(NF1):c.7778T>A (p.Leu2593Ter)
|
|
|
NM_001042492.3(NF1):c.7778del (p.Leu2593fs)
|
rs1567626919
|
|
NM_001042492.3(NF1):c.7779A>G (p.Leu2593=)
|
|
|
NM_001042492.3(NF1):c.7781G>C (p.Arg2594Pro)
|
|
|
NM_001042492.3(NF1):c.7781G>T (p.Arg2594Leu)
|
rs774781617
|
|
NM_001042492.3(NF1):c.7782del (p.Val2596fs)
|
rs1135402908
|
|
NM_001042492.3(NF1):c.7783A>G (p.Lys2595Glu)
|
rs2151582291
|
|
NM_001042492.3(NF1):c.7784_7785del (p.Lys2595fs)
|
rs1597866414
|
|
NM_001042492.3(NF1):c.7786G>A (p.Val2596Ile)
|
|
|
NM_001042492.3(NF1):c.7787_7793del (p.Val2596fs)
|
rs2151582306
|
|
NM_001042492.3(NF1):c.7788_7789dup (p.Ser2597fs)
|
rs2070287917
|
|
NM_001042492.3(NF1):c.7788_7789insG (p.Ser2597fs)
|
rs2151582311
|
|
NM_001042492.3(NF1):c.7789T>C (p.Ser2597Pro)
|
rs864622364
|
|
NM_001042492.3(NF1):c.778A>G (p.Thr260Ala)
|
rs1466892954
|
|
NM_001042492.3(NF1):c.7790C>A (p.Ser2597Ter)
|
rs1567626945
|
|
NM_001042492.3(NF1):c.7790C>T (p.Ser2597Leu)
|
|
|
NM_001042492.3(NF1):c.7791A>G (p.Ser2597=)
|
|
|
NM_001042492.3(NF1):c.7791A>T (p.Ser2597=)
|
rs1597866426
|
|
NM_001042492.3(NF1):c.7791del (p.Val2598fs)
|
|
|
NM_001042492.3(NF1):c.7792G>A (p.Val2598Met)
|
|
|
NM_001042492.3(NF1):c.7792G>C (p.Val2598Leu)
|
|
|
NM_001042492.3(NF1):c.7792G>T (p.Val2598Leu)
|
rs2151582315
|
|
NM_001042492.3(NF1):c.7793del (p.Val2598fs)
|
rs2151582319
|
|
NM_001042492.3(NF1):c.7794G>A (p.Val2598=)
|
rs1555536699
|
|
NM_001042492.3(NF1):c.7797T>C (p.Ser2599=)
|
|
|
NM_001042492.3(NF1):c.7797dup (p.Glu2600Ter)
|
rs863224837
|
|
NM_001042492.3(NF1):c.779C>T (p.Thr260Ile)
|
rs1567826665
|
|
NM_001042492.3(NF1):c.77G>A (p.Gly26Glu)
|
rs2143625375
|
|
NM_001042492.3(NF1):c.77del (p.Gly26fs)
|
rs2143625360
|
|
NM_001042492.3(NF1):c.77dup (p.Gln27fs)
|
rs2143625360
|
|
NM_001042492.3(NF1):c.7800A>G (p.Glu2600=)
|
|
|
NM_001042492.3(NF1):c.7802C>A (p.Ser2601Ter)
|
rs2070288287
|
|
NM_001042492.3(NF1):c.7802C>G (p.Ser2601Ter)
|
rs2070288287
|
|
NM_001042492.3(NF1):c.7803A>C (p.Ser2601=)
|
rs1555536700
|
|
NM_001042492.3(NF1):c.7804A>G (p.Asn2602Asp)
|
rs150657839
|
|
NM_001042492.3(NF1):c.7804A>T (p.Asn2602Tyr)
|
rs150657839
|
|
NM_001042492.3(NF1):c.7805A>G (p.Asn2602Ser)
|
rs2151582358
|
|
NM_001042492.3(NF1):c.7806T>C (p.Asn2602=)
|
rs2070288476
|
|
NM_001042492.3(NF1):c.7807G>A (p.Val2603Ile)
|
rs766135206
|
|
NM_001042492.3(NF1):c.7807G>C (p.Val2603Leu)
|
rs766135206
|
|
NM_001042492.3(NF1):c.7807_7811del (p.Val2603fs)
|
|
|
NM_001042492.3(NF1):c.7808_7809dup (p.Leu2604fs)
|
|
|
NM_001042492.3(NF1):c.780C>T (p.Thr260=)
|
rs1358425599
|
|
NM_001042492.3(NF1):c.7810C>T (p.Leu2604Phe)
|
rs776602307
|
|
NM_001042492.3(NF1):c.7811del (p.Leu2604fs)
|
rs1555536701
|
|
NM_001042492.3(NF1):c.7812C>A (p.Leu2604=)
|
rs1555536702
|
|
NM_001042492.3(NF1):c.7812C>G (p.Leu2604=)
|
rs1555536702
|
|
NM_001042492.3(NF1):c.7812C>T (p.Leu2604=)
|
rs1555536702
|
|
NM_001042492.3(NF1):c.7814del (p.Leu2605fs)
|
rs2151582390
|
|
NM_001042492.3(NF1):c.7815G>A (p.Leu2605=)
|
rs1555536703
|
|
NM_001042492.3(NF1):c.7816G>A (p.Asp2606Asn)
|
rs2151582401
|
|
NM_001042492.3(NF1):c.7816_7819del (p.Asp2606fs)
|
|
|
NM_001042492.3(NF1):c.7816_7822del (p.Asp2606fs)
|
rs2151582400
|
|
NM_001042492.3(NF1):c.7818T>A (p.Asp2606Glu)
|
|
|
NM_001042492.3(NF1):c.7819_7822dup (p.Glu2608fs)
|
|
|
NM_001042492.3(NF1):c.781A>C (p.Lys261Gln)
|
rs2066156804
|
|
NM_001042492.3(NF1):c.7820A>C (p.Glu2607Ala)
|
rs1597866483
|
|
NM_001042492.3(NF1):c.7820AAG[1] (p.Glu2608del)
|
rs2070288954
|
|
NM_001042492.3(NF1):c.7821_7822insTC (p.Glu2608fs)
|
rs2151582417
|
|
NM_001042492.3(NF1):c.7822G>A (p.Glu2608Lys)
|
rs1597866487
|
|
NM_001042492.3(NF1):c.7823A>G (p.Glu2608Gly)
|
rs2070289110
|
|
NM_001042492.3(NF1):c.7823A>T (p.Glu2608Val)
|
|
|
NM_001042492.3(NF1):c.7825G>C (p.Val2609Leu)
|
rs786203848
|
|
NM_001042492.3(NF1):c.7826T>C (p.Val2609Ala)
|
|
|
NM_001042492.3(NF1):c.7827A>G (p.Val2609=)
|
rs1597866497
|
|
NM_001042492.3(NF1):c.7828C>G (p.Leu2610Val)
|
|
|
NM_001042492.3(NF1):c.7828C>T (p.Leu2610Phe)
|
|
|
NM_001042492.3(NF1):c.7829T>A (p.Leu2610His)
|
|
|
NM_001042492.3(NF1):c.7829T>C (p.Leu2610Pro)
|
|
|
NM_001042492.3(NF1):c.782A>G (p.Lys261Arg)
|
|
|
NM_001042492.3(NF1):c.7830T>G (p.Leu2610=)
|
rs1555536705
|
|
NM_001042492.3(NF1):c.7831A>G (p.Thr2611Ala)
|
rs759424718
|
|
NM_001042492.3(NF1):c.7831dup (p.Thr2611fs)
|
|
|
NM_001042492.3(NF1):c.7833T>C (p.Thr2611=)
|
rs786202445
|
|
NM_001042492.3(NF1):c.7837C>A (p.Pro2613Thr)
|
rs138839077
|
|
NM_001042492.3(NF1):c.7838C>A (p.Pro2613Gln)
|
rs750972729
|
|
NM_001042492.3(NF1):c.7838del (p.Pro2613fs)
|
rs1131691129
|
|
NM_001042492.3(NF1):c.7838dup (p.Lys2614fs)
|
rs1131691129
|
|
NM_001042492.3(NF1):c.7839G>C (p.Pro2613=)
|
rs752218441
|
|
NM_001042492.3(NF1):c.7839del (p.Lys2614fs)
|
rs2070290006
|
|
NM_001042492.3(NF1):c.783A>G (p.Lys261=)
|
rs2143785572
|
|
NM_001042492.3(NF1):c.7840A>G (p.Lys2614Glu)
|
|
|
NM_001042492.3(NF1):c.7842G>T (p.Lys2614Asn)
|
rs1555536710
|
|
NM_001042492.3(NF1):c.7842_7845del (p.Lys2614fs)
|
rs2070290107
|
|
NM_001042492.3(NF1):c.7844T>A (p.Ile2615Asn)
|
rs1555536711
|
|
NM_001042492.3(NF1):c.7844T>G (p.Ile2615Ser)
|
|
|
NM_001042492.3(NF1):c.7845C>G (p.Ile2615Met)
|
|
|
NM_001042492.3(NF1):c.7845C>T (p.Ile2615=)
|
rs876659117
|
|
NM_001042492.3(NF1):c.7845_7847del (p.Ile2615_Gln2616delinsMet)
|
rs2070290251
|
|
NM_001042492.3(NF1):c.7846C>G (p.Gln2616Glu)
|
rs1555536713
|
|
NM_001042492.3(NF1):c.7846C>T (p.Gln2616Ter)
|
rs1555536713
|
|
NM_001042492.3(NF1):c.7846del (p.Gln2616fs)
|
|
|
NM_001042492.3(NF1):c.7847A>G (p.Gln2616Arg)
|
rs876659308
|
|
NM_001042492.3(NF1):c.7847_7850del (p.Gln2616fs)
|
rs1597866554
|
|
NM_001042492.3(NF1):c.7848G>C (p.Gln2616His)
|
|
|
NM_001042492.3(NF1):c.784C>T (p.Arg262Cys)
|
rs754343223
|
|
NM_001042492.3(NF1):c.7851G>A (p.Ala2617=)
|
rs751273275
|
|
NM_001042492.3(NF1):c.7851_7852delinsCT (p.Ala2617_Leu2618=)
|
rs1597866565
|
|
NM_001042492.3(NF1):c.7852C>T (p.Leu2618=)
|
rs1175965670
|
|
NM_001042492.3(NF1):c.7854G>A (p.Leu2618=)
|
rs1597866574
|
|
NM_001042492.3(NF1):c.7854G>C (p.Leu2618=)
|
rs1597866574
|
|
NM_001042492.3(NF1):c.7855C>T (p.Leu2619Phe)
|
rs781437770
|
|
NM_001042492.3(NF1):c.7855_7864del (p.Leu2619fs)
|
|
|
NM_001042492.3(NF1):c.7856T>G (p.Leu2619Arg)
|
rs916881278
|
|
NM_001042492.3(NF1):c.7857T>G (p.Leu2619=)
|
rs2151582527
|
|
NM_001042492.3(NF1):c.7859T>G (p.Leu2620Arg)
|
rs2151582531
|
|
NM_001042492.3(NF1):c.785G>A (p.Arg262His)
|
rs1555608957
|
|
NM_001042492.3(NF1):c.785G>C (p.Arg262Pro)
|
rs1555608957
|
|
NM_001042492.3(NF1):c.785del (p.Arg262fs)
|
rs2143785630
|
|
NM_001042492.3(NF1):c.7860_7861dup (p.Thr2621fs)
|
|
|
NM_001042492.3(NF1):c.7860del (p.Thr2621fs)
|
rs2070290843
|
|
NM_001042492.3(NF1):c.7863T>A (p.Thr2621=)
|
|
|
NM_001042492.3(NF1):c.7863T>C (p.Thr2621=)
|
|
|
NM_001042492.3(NF1):c.7864G>A (p.Val2622Ile)
|
rs1471144465
|
|
NM_001042492.3(NF1):c.7864G>C (p.Val2622Leu)
|
rs1471144465
|
|
NM_001042492.3(NF1):c.7865T>G (p.Val2622Gly)
|
|
|
NM_001042492.3(NF1):c.7865_7868dup (p.Ala2624fs)
|
|
|
NM_001042492.3(NF1):c.7867C>A (p.Leu2623Ile)
|
|
|
NM_001042492.3(NF1):c.7867C>G (p.Leu2623Val)
|
rs1555536721
|
|
NM_001042492.3(NF1):c.7869+11C>A
|
rs746332598
|
|
NM_001042492.3(NF1):c.7869+11C>T
|
rs746332598
|
|
NM_001042492.3(NF1):c.7869+12C>G
|
|
|
NM_001042492.3(NF1):c.7869+15T>C
|
|
|
NM_001042492.3(NF1):c.7869+16T>C
|
rs2151582629
|
|
NM_001042492.3(NF1):c.7869+17T>C
|
|
|
NM_001042492.3(NF1):c.7869+19del
|
|
|
NM_001042492.3(NF1):c.7869+19dup
|
rs2151582627
|
|
NM_001042492.3(NF1):c.7869+1G>A
|
rs1329683225
|
|
NM_001042492.3(NF1):c.7869+1G>C
|
rs1329683225
|
|
NM_001042492.3(NF1):c.7869+2T>A
|
rs1555536724
|
|
NM_001042492.3(NF1):c.7869+2T>C
|
rs1555536724
|
|
NM_001042492.3(NF1):c.7869+2T>G
|
rs1555536724
|
|
NM_001042492.3(NF1):c.7869+4A>G
|
rs1567627046
|
|
NM_001042492.3(NF1):c.7869+5G>A
|
rs1555536725
|
|
NM_001042492.3(NF1):c.7869+7A>T
|
|
|
NM_001042492.3(NF1):c.7869+8T>G
|
rs2151582586
|
|
NM_001042492.3(NF1):c.7869A>G (p.Leu2623=)
|
rs876659536
|
|
NM_001042492.3(NF1):c.7870-10A>C
|
rs1597866772
|
|
NM_001042492.3(NF1):c.7870-10A>G
|
rs1597866772
|
|
NM_001042492.3(NF1):c.7870-11C>T
|
|
|
NM_001042492.3(NF1):c.7870-13del
|
rs369360556
|
|
NM_001042492.3(NF1):c.7870-13dup
|
rs369360556
|
|
NM_001042492.3(NF1):c.7870-14T>A
|
|
|
NM_001042492.3(NF1):c.7870-15T>G
|
rs2151583113
|
|
NM_001042492.3(NF1):c.7870-17T>C
|
|
|
NM_001042492.3(NF1):c.7870-18T>A
|
rs1018087992
|
|
NM_001042492.3(NF1):c.7870-18T>G
|
|
|
NM_001042492.3(NF1):c.7870-19C>G
|
|
|
NM_001042492.3(NF1):c.7870-1G>A
|
rs1567627138
|
|
NM_001042492.3(NF1):c.7870-1G>C
|
rs1567627138
|
|
NM_001042492.3(NF1):c.7870-20A>G
|
rs574898272
|
|
NM_001042492.3(NF1):c.7870-24_7870-19delinsTTTTAG
|
rs1597866743
|
|
NM_001042492.3(NF1):c.7870-2A>C
|
rs2070296011
|
|
NM_001042492.3(NF1):c.7870-2A>G
|
rs2070296011
|
|
NM_001042492.3(NF1):c.7870-3C>G
|
rs1597866792
|
|
NM_001042492.3(NF1):c.7870-3C>T
|
rs1597866792
|
|
NM_001042492.3(NF1):c.7870-4G>A
|
|
|
NM_001042492.3(NF1):c.7870-5G>C
|
|
|
NM_001042492.3(NF1):c.7870-5G>T
|
rs1169181885
|
|
NM_001042492.3(NF1):c.7870-6T>A
|
rs2151583143
|
|
NM_001042492.3(NF1):c.7870-7T>C
|
rs2151583138
|
|
NM_001042492.3(NF1):c.7870-8C>T
|
rs372441422
|
|
NM_001042492.3(NF1):c.7870-9T>C
|
|
|
NM_001042492.3(NF1):c.7870G>A (p.Ala2624Thr)
|
rs1597866802
|
|
NM_001042492.3(NF1):c.7870G>C (p.Ala2624Pro)
|
rs1597866802
|
|
NM_001042492.3(NF1):c.7871C>G (p.Ala2624Gly)
|
|
|
NM_001042492.3(NF1):c.7872T>C (p.Ala2624=)
|
rs1399938334
|
|
NM_001042492.3(NF1):c.7873A>G (p.Thr2625Ala)
|
rs2070296220
|
|
NM_001042492.3(NF1):c.7874C>T (p.Thr2625Ile)
|
rs2151583169
|
|
NM_001042492.3(NF1):c.7876C>A (p.Leu2626Met)
|
rs1555536748
|
|
NM_001042492.3(NF1):c.7878G>A (p.Leu2626=)
|
rs1022364851
|
|
NM_001042492.3(NF1):c.787A>C (p.Lys263Gln)
|
|
|
NM_001042492.3(NF1):c.787A>G (p.Lys263Glu)
|
rs1597659883
|
|
NM_001042492.3(NF1):c.7880del (p.Val2627fs)
|
|
|
NM_001042492.3(NF1):c.7885T>C (p.Tyr2629His)
|
|
|
NM_001042492.3(NF1):c.7888A>G (p.Thr2630Ala)
|
rs1567627155
|
|
NM_001042492.3(NF1):c.7889C>T (p.Thr2630Ile)
|
rs1283946778
|
|
NM_001042492.3(NF1):c.7890C>T (p.Thr2630=)
|
|
|
NM_001042492.3(NF1):c.7893A>C (p.Thr2631=)
|
|
|
NM_001042492.3(NF1):c.7893A>G (p.Thr2631=)
|
|
|
NM_001042492.3(NF1):c.7895A>G (p.Asp2632Gly)
|
rs1597866846
|
|
NM_001042492.3(NF1):c.7895del (p.Asp2632fs)
|
rs2151583226
|
|
NM_001042492.3(NF1):c.7896T>A (p.Asp2632Glu)
|
rs1277560744
|
|
NM_001042492.3(NF1):c.7896T>C (p.Asp2632=)
|
rs1277560744
|
|
NM_001042492.3(NF1):c.7897G>T (p.Glu2633Ter)
|
|
|
NM_001042492.3(NF1):c.7897dup (p.Glu2633fs)
|
rs2151583236
|
|
NM_001042492.3(NF1):c.7899G>A (p.Glu2633=)
|
rs1597866857
|
|
NM_001042492.3(NF1):c.789del (p.Ala264fs)
|
rs1135402795
|
|
NM_001042492.3(NF1):c.789dup (p.Ala264fs)
|
|
|
NM_001042492.3(NF1):c.78A>G (p.Gly26=)
|
|
|
NM_001042492.3(NF1):c.7902T>A (p.Phe2634Leu)
|
rs2151583253
|
|
NM_001042492.3(NF1):c.7903G>A (p.Asp2635Asn)
|
rs2151583254
|
|
NM_001042492.3(NF1):c.7904A>T (p.Asp2635Val)
|
rs2070297198
|
|
NM_001042492.3(NF1):c.7905T>A (p.Asp2635Glu)
|
|
|
NM_001042492.3(NF1):c.7905T>G (p.Asp2635Glu)
|
|
|
NM_001042492.3(NF1):c.7906C>G (p.Gln2636Glu)
|
|
|
NM_001042492.3(NF1):c.7906C>T (p.Gln2636Ter)
|
rs567988442
|
|
NM_001042492.3(NF1):c.7907A>C (p.Gln2636Pro)
|
rs1597866867
|
|
NM_001042492.3(NF1):c.7908A>G (p.Gln2636=)
|
rs2151583269
|
|
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)
|
rs786201367
|
|
NM_001042492.3(NF1):c.790del (p.Ala264fs)
|
rs1597659893
|
|
NM_001042492.3(NF1):c.7910G>T (p.Arg2637Leu)
|
rs560262404
|
|
NM_001042492.3(NF1):c.7911A>T (p.Arg2637=)
|
rs1597866885
|
|
NM_001042492.3(NF1):c.7912A>C (p.Ile2638Leu)
|
|
|
NM_001042492.3(NF1):c.7912A>G (p.Ile2638Val)
|
rs2151583282
|
|
NM_001042492.3(NF1):c.7914T>G (p.Ile2638Met)
|
rs1597866892
|
|
NM_001042492.3(NF1):c.7915C>A (p.Leu2639Ile)
|
rs1057518362
|
|
NM_001042492.3(NF1):c.7915C>G (p.Leu2639Val)
|
rs1057518362
|
|
NM_001042492.3(NF1):c.7917_7918insA (p.Tyr2640fs)
|
rs1597866897
|
|
NM_001042492.3(NF1):c.7918del (p.Tyr2640fs)
|
|
|
NM_001042492.3(NF1):c.7919A>G (p.Tyr2640Cys)
|
rs1597866901
|
|
NM_001042492.3(NF1):c.7919A>T (p.Tyr2640Phe)
|
rs1597866901
|
|
NM_001042492.3(NF1):c.791C>T (p.Ala264Val)
|
rs2143785708
|
|
NM_001042492.3(NF1):c.7920T>G (p.Tyr2640Ter)
|
rs1060500333
|
|
NM_001042492.3(NF1):c.7921G>A (p.Glu2641Lys)
|
rs2151583310
|
|
NM_001042492.3(NF1):c.7921G>T (p.Glu2641Ter)
|
|
|
NM_001042492.3(NF1):c.7921_7924dup (p.Tyr2642Ter)
|
|
|
NM_001042492.3(NF1):c.7921del (p.Glu2641fs)
|
rs1567627210
|
|
NM_001042492.3(NF1):c.7922A>C (p.Glu2641Ala)
|
rs876658205
|
|
NM_001042492.3(NF1):c.7922A>G (p.Glu2641Gly)
|
|
|
NM_001042492.3(NF1):c.7922A>T (p.Glu2641Val)
|
rs876658205
|
|
NM_001042492.3(NF1):c.7923A>G (p.Glu2641=)
|
rs1597866925
|
|
NM_001042492.3(NF1):c.7923del (p.Glu2641fs)
|
rs1597866921
|
|
NM_001042492.3(NF1):c.7925_7926insT (p.Ala2644fs)
|
|
|
NM_001042492.3(NF1):c.7926C>G (p.Tyr2642Ter)
|
rs1567627217
|
|
NM_001042492.3(NF1):c.7926C>T (p.Tyr2642=)
|
|
|
NM_001042492.3(NF1):c.7928del (p.Tyr2642_Leu2643insTer)
|
|
|
NM_001042492.3(NF1):c.792del (p.Ala265fs)
|
rs1135402796
|
|
NM_001042492.3(NF1):c.7930G>C (p.Ala2644Pro)
|
rs2070298197
|
|
NM_001042492.3(NF1):c.7931C>A (p.Ala2644Glu)
|
rs766494934
|
|
NM_001042492.3(NF1):c.7931C>T (p.Ala2644Val)
|
|
|
NM_001042492.3(NF1):c.7931dup (p.Glu2645fs)
|
rs878853918
|
|
NM_001042492.3(NF1):c.7933G>A (p.Glu2645Lys)
|
|
|
NM_001042492.3(NF1):c.7934A>G (p.Glu2645Gly)
|
|
|
NM_001042492.3(NF1):c.7934_7935insC (p.Glu2645fs)
|
|
|
NM_001042492.3(NF1):c.7937C>T (p.Ala2646Val)
|
|
|
NM_001042492.3(NF1):c.7938C>G (p.Ala2646=)
|
|
|
NM_001042492.3(NF1):c.7938C>T (p.Ala2646=)
|
|
|
NM_001042492.3(NF1):c.7939del (p.Ser2647fs)
|
|
|
NM_001042492.3(NF1):c.7939dup (p.Ser2647fs)
|
|
|
NM_001042492.3(NF1):c.793G>A (p.Ala265Thr)
|
|
|
NM_001042492.3(NF1):c.7940G>A (p.Ser2647Asn)
|
|
|
NM_001042492.3(NF1):c.7941T>C (p.Ser2647=)
|
rs2151583381
|
|
NM_001042492.3(NF1):c.7942G>C (p.Val2648Leu)
|
|
|
NM_001042492.3(NF1):c.7943T>C (p.Val2648Ala)
|
|
|
NM_001042492.3(NF1):c.7945G>A (p.Val2649Met)
|
rs1555536761
|
|
NM_001042492.3(NF1):c.7945G>C (p.Val2649Leu)
|
rs1555536761
|
|
NM_001042492.3(NF1):c.7946T>G (p.Val2649Gly)
|
|
|
NM_001042492.3(NF1):c.7947G>C (p.Val2649=)
|
rs2151583400
|
|
NM_001042492.3(NF1):c.7947_7948del (p.Phe2650fs)
|
rs2070298589
|
|
NM_001042492.3(NF1):c.7948T>C (p.Phe2650Leu)
|
|
|
NM_001042492.3(NF1):c.7948T>G (p.Phe2650Val)
|
|
|
NM_001042492.3(NF1):c.7948_7958del (p.Phe2650fs)
|
rs2151583407
|
|
NM_001042492.3(NF1):c.7949T>G (p.Phe2650Cys)
|
rs754443238
|
|
NM_001042492.3(NF1):c.794C>T (p.Ala265Val)
|
|
|
NM_001042492.3(NF1):c.7953C>T (p.Pro2651=)
|
rs779167139
|
|
NM_001042492.3(NF1):c.7954A>C (p.Lys2652Gln)
|
|
|
NM_001042492.3(NF1):c.7954A>G (p.Lys2652Glu)
|
|
|
NM_001042492.3(NF1):c.7955A>G (p.Lys2652Arg)
|
rs1597866986
|
|
NM_001042492.3(NF1):c.7955_7956del (p.Lys2652fs)
|
rs1555536765
|
|
NM_001042492.3(NF1):c.7956del (p.Val2653fs)
|
|
|
NM_001042492.3(NF1):c.7956dup (p.Val2653fs)
|
rs1555536765
|
|
NM_001042492.3(NF1):c.7957del (p.Val2653fs)
|
|
|
NM_001042492.3(NF1):c.7959C>A (p.Val2653=)
|
rs1555536767
|
|
NM_001042492.3(NF1):c.7959C>T (p.Val2653=)
|
rs1555536767
|
|
NM_001042492.3(NF1):c.7959del (p.Pro2655fs)
|
rs1597866998
|
|
NM_001042492.3(NF1):c.795A>C (p.Ala265=)
|
rs1597659909
|
|
NM_001042492.3(NF1):c.7962T>G (p.Phe2654Leu)
|
rs1597867008
|
|
NM_001042492.3(NF1):c.7962del (p.Pro2655fs)
|
|
|
NM_001042492.3(NF1):c.7962dup (p.Pro2655fs)
|
rs2151583446
|
|
NM_001042492.3(NF1):c.7963C>A (p.Pro2655Thr)
|
rs587781791
|
|
NM_001042492.3(NF1):c.7963C>G (p.Pro2655Ala)
|
rs587781791
|
|
NM_001042492.3(NF1):c.7963C>T (p.Pro2655Ser)
|
rs587781791
|
|
NM_001042492.3(NF1):c.7964C>T (p.Pro2655Leu)
|
rs2070299592
|
|
NM_001042492.3(NF1):c.7964del (p.Pro2655fs)
|
rs1567627268
|
|
NM_001042492.3(NF1):c.7965T>G (p.Pro2655=)
|
rs748355760
|
|
NM_001042492.3(NF1):c.7966G>A (p.Val2656Ile)
|
|
|
NM_001042492.3(NF1):c.7968T>G (p.Val2656=)
|
rs1555536771
|
|
NM_001042492.3(NF1):c.7968_7970+2del
|
rs2070299730
|
|
NM_001042492.3(NF1):c.7969G>A (p.Val2657Met)
|
|
|
NM_001042492.3(NF1):c.7969G>C (p.Val2657Leu)
|
rs1597867034
|
|
NM_001042492.3(NF1):c.7969_7970+2del
|
|
|
NM_001042492.3(NF1):c.796G>A (p.Val266Ile)
|
rs2066157267
|
|
NM_001042492.3(NF1):c.7970+11C>G
|
rs1366551996
|
|
NM_001042492.3(NF1):c.7970+149_8160+723dup
|
|
|
NM_001042492.3(NF1):c.7970+15T>C
|
|
|
NM_001042492.3(NF1):c.7970+19T>C
|
rs1385428545
|
|
NM_001042492.3(NF1):c.7970+1G>A
|
rs1555536773
|
|
NM_001042492.3(NF1):c.7970+1G>T
|
|
|
NM_001042492.3(NF1):c.7970+2T>G
|
|
|
NM_001042492.3(NF1):c.7970+2dup
|
rs1597867039
|
|
NM_001042492.3(NF1):c.7970+3A>C
|
|
|
NM_001042492.3(NF1):c.7970+3A>G
|
rs1567627282
|
|
NM_001042492.3(NF1):c.7970+3A>T
|
|
|
NM_001042492.3(NF1):c.7970+3_7970+4del
|
rs2151583488
|
|
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>C
|
rs1567627286
|
|
NM_001042492.3(NF1):c.7970+5G>T
|
rs1567627286
|
|
NM_001042492.3(NF1):c.7970+6T>C
|
rs1555536775
|
|
NM_001042492.3(NF1):c.7970+6T>G
|
rs1555536775
|
|
NM_001042492.3(NF1):c.7970+7A>G
|
rs1597867052
|
|
NM_001042492.3(NF1):c.7970+7dup
|
|
|
NM_001042492.3(NF1):c.7970+9C>G
|
|
|
NM_001042492.3(NF1):c.7971-10T>C
|
|
|
NM_001042492.3(NF1):c.7971-13T>C
|
|
|
NM_001042492.3(NF1):c.7971-13T>G
|
|
|
NM_001042492.3(NF1):c.7971-15T>C
|
|
|
NM_001042492.3(NF1):c.7971-17C>G
|
|
|
NM_001042492.3(NF1):c.7971-17C>T
|
|
|
NM_001042492.3(NF1):c.7971-19G>A
|
|
|
NM_001042492.3(NF1):c.7971-1G>A
|
rs1417908560
|
|
NM_001042492.3(NF1):c.7971-1G>C
|
|
|
NM_001042492.3(NF1):c.7971-1G>T
|
rs1417908560
|
|
NM_001042492.3(NF1):c.7971-2A>G
|
rs779079091
|
|
NM_001042492.3(NF1):c.7971-2del
|
rs2151584780
|
|
NM_001042492.3(NF1):c.7971-321C>G
|
rs2070316606
|
|
NM_001042492.3(NF1):c.7971-3T>G
|
rs2151584771
|
|
NM_001042492.3(NF1):c.7971-3del
|
|
|
NM_001042492.3(NF1):c.7971-4T>C
|
|
|
NM_001042492.3(NF1):c.7971-4T>G
|
rs1555536865
|
|
NM_001042492.3(NF1):c.7971-7del
|
|
|
NM_001042492.3(NF1):c.7971-8del
|
rs564545012
|
|
NM_001042492.3(NF1):c.7971-8dup
|
rs564545012
|
|
NM_001042492.3(NF1):c.7971-9T>C
|
rs2151584749
|
|
NM_001042492.3(NF1):c.7971_7988del (p.His2658_Ser2663del)
|
|
|
NM_001042492.3(NF1):c.7972C>A (p.His2658Asn)
|
rs1555536868
|
|
NM_001042492.3(NF1):c.7972C>T (p.His2658Tyr)
|
rs1555536868
|
|
NM_001042492.3(NF1):c.7975A>C (p.Asn2659His)
|
rs1177245412
|
|
NM_001042492.3(NF1):c.7976A>C (p.Asn2659Thr)
|
rs1597868051
|
|
NM_001042492.3(NF1):c.7979del (p.Leu2660fs)
|
rs2151584799
|
|
NM_001042492.3(NF1):c.7981T>G (p.Leu2661Val)
|
|
|
NM_001042492.3(NF1):c.7982T>A (p.Leu2661Ter)
|
rs1567627709
|
|
NM_001042492.3(NF1):c.7986C>T (p.Asp2662=)
|
rs876658550
|
|
NM_001042492.3(NF1):c.7987T>A (p.Ser2663Thr)
|
rs2151584821
|
|
NM_001042492.3(NF1):c.7987del (p.Ser2663fs)
|
|
|
NM_001042492.3(NF1):c.7988C>A (p.Ser2663Tyr)
|
|
|
NM_001042492.3(NF1):c.7988C>G (p.Ser2663Cys)
|
rs786202579
|
|
NM_001042492.3(NF1):c.7988C>T (p.Ser2663Phe)
|
rs786202579
|
|
NM_001042492.3(NF1):c.7989T>A (p.Ser2663=)
|
rs1555536881
|
|
NM_001042492.3(NF1):c.7989T>C (p.Ser2663=)
|
rs1555536881
|
|
NM_001042492.3(NF1):c.7989_7990insTT (p.Lys2664fs)
|
rs1555536882
|
|
NM_001042492.3(NF1):c.7989dup (p.Lys2664Ter)
|
rs1555536882
|
|
NM_001042492.3(NF1):c.7990A>G (p.Lys2664Glu)
|
|
|
NM_001042492.3(NF1):c.7991A>G (p.Lys2664Arg)
|
|
|
NM_001042492.3(NF1):c.7991del (p.Lys2664fs)
|
|
|
NM_001042492.3(NF1):c.7992G>A (p.Lys2664=)
|
rs1060500377
|
|
NM_001042492.3(NF1):c.7992G>C (p.Lys2664Asn)
|
rs1060500377
|
|
NM_001042492.3(NF1):c.7995C>G (p.Ile2665Met)
|
rs1037082087
|
|
NM_001042492.3(NF1):c.7995C>T (p.Ile2665=)
|
rs1037082087
|
|
NM_001042492.3(NF1):c.7995dup (p.Asn2666fs)
|
|
|
NM_001042492.3(NF1):c.7997A>G (p.Asn2666Ser)
|
|
|
NM_001042492.3(NF1):c.7999A>G (p.Thr2667Ala)
|
rs995645937
|
|
NM_001042492.3(NF1):c.7999A>T (p.Thr2667Ser)
|
|
|
NM_001042492.3(NF1):c.799_802del (p.Trp267fs)
|
rs1567826683
|
|
NM_001042492.3(NF1):c.79C>T (p.Gln27Ter)
|
rs1060500363
|
|
NM_001042492.3(NF1):c.79del (p.Gln27fs)
|
|
|
NM_001042492.3(NF1):c.8000C>G (p.Thr2667Ser)
|
rs786203669
|
|
NM_001042492.3(NF1):c.8000C>T (p.Thr2667Ile)
|
rs786203669
|
|
NM_001042492.3(NF1):c.8001C>A (p.Thr2667=)
|
rs876658475
|
|
NM_001042492.3(NF1):c.8001C>T (p.Thr2667=)
|
rs876658475
|
|
NM_001042492.3(NF1):c.8002C>A (p.Leu2668Met)
|
rs1060503905
|
|
NM_001042492.3(NF1):c.8002C>G (p.Leu2668Val)
|
rs1060503905
|
|
NM_001042492.3(NF1):c.8002C>T (p.Leu2668=)
|
rs1060503905
|
|
NM_001042492.3(NF1):c.8002_8003del (p.Leu2668fs)
|
rs2070326034
|
|
NM_001042492.3(NF1):c.8002del (p.Leu2668fs)
|
|
|
NM_001042492.3(NF1):c.8004G>A (p.Leu2668=)
|
rs1597868098
|
|
NM_001042492.3(NF1):c.8004G>C (p.Leu2668=)
|
rs1597868098
|
|
NM_001042492.3(NF1):c.8006dup (p.Leu2669fs)
|
|
|
NM_001042492.3(NF1):c.8007A>G (p.Leu2669=)
|
rs2151584878
|
|
NM_001042492.3(NF1):c.8008T>C (p.Ser2670Pro)
|
rs1597868102
|
|
NM_001042492.3(NF1):c.8009C>T (p.Ser2670Leu)
|
rs1131691074
|
|
NM_001042492.3(NF1):c.800G>A (p.Trp267Ter)
|
|
|
NM_001042492.3(NF1):c.8010A>G (p.Ser2670=)
|
|
|
NM_001042492.3(NF1):c.8011T>A (p.Leu2671Met)
|
rs2070326229
|
|
NM_001042492.3(NF1):c.8011T>C (p.Leu2671=)
|
|
|
NM_001042492.3(NF1):c.8017C>T (p.Gln2673Ter)
|
rs1567627751
|
|
NM_001042492.3(NF1):c.801G>A (p.Trp267Ter)
|
rs1064794273
|
|
NM_001042492.3(NF1):c.8020G>A (p.Asp2674Asn)
|
rs1597868123
|
|
NM_001042492.3(NF1):c.8022T>C (p.Asp2674=)
|
|
|
NM_001042492.3(NF1):c.8024C>G (p.Pro2675Arg)
|
|
|
NM_001042492.3(NF1):c.8026A>G (p.Asn2676Asp)
|
rs1555536902
|
|
NM_001042492.3(NF1):c.8027del (p.Asn2676fs)
|
|
|
NM_001042492.3(NF1):c.8029T>C (p.Leu2677=)
|
rs1207400434
|
|
NM_001042492.3(NF1):c.8030T>A (p.Leu2677Ter)
|
|
|
NM_001042492.3(NF1):c.8030del (p.Leu2677fs)
|
rs772757623
|
|
NM_001042492.3(NF1):c.8031G>A (p.Leu2677=)
|
rs1555536905
|
|
NM_001042492.3(NF1):c.8032T>C (p.Leu2678=)
|
|
|
NM_001042492.3(NF1):c.8033del (p.Leu2677_Leu2678insTer)
|
rs1567627755
|
|
NM_001042492.3(NF1):c.8034_8037del (p.Leu2678fs)
|
|
|
NM_001042492.3(NF1):c.8036A>C (p.Asn2679Thr)
|
|
|
NM_001042492.3(NF1):c.8039C>G (p.Pro2680Arg)
|
rs2151584968
|
|
NM_001042492.3(NF1):c.8039C>T (p.Pro2680Leu)
|
|
|
NM_001042492.3(NF1):c.803C>A (p.Pro268Gln)
|
rs1441060549
|
|
NM_001042492.3(NF1):c.803C>G (p.Pro268Arg)
|
|
|
NM_001042492.3(NF1):c.803C>T (p.Pro268Leu)
|
rs1441060549
|
|
NM_001042492.3(NF1):c.8040A>T (p.Pro2680=)
|
rs749163014
|
|
NM_001042492.3(NF1):c.8041_8042del (p.Ile2681fs)
|
|
|
NM_001042492.3(NF1):c.8046T>A (p.His2682Gln)
|
rs1184642602
|
|
NM_001042492.3(NF1):c.8048G>A (p.Gly2683Glu)
|
rs2070327151
|
|
NM_001042492.3(NF1):c.8048G>C (p.Gly2683Ala)
|
|
|
NM_001042492.3(NF1):c.804A>C (p.Pro268=)
|
rs759964997
|
|
NM_001042492.3(NF1):c.804A>G (p.Pro268=)
|
rs759964997
|
|
NM_001042492.3(NF1):c.804del (p.Leu269fs)
|
|
|
NM_001042492.3(NF1):c.8050A>C (p.Ile2684Leu)
|
rs1555536913
|
|
NM_001042492.3(NF1):c.8054_8055del (p.Val2685fs)
|
rs1597868171
|
|
NM_001042492.3(NF1):c.8055G>A (p.Val2685=)
|
|
|
NM_001042492.3(NF1):c.8055G>T (p.Val2685=)
|
rs1245392693
|
|
NM_001042492.3(NF1):c.8056C>T (p.Gln2686Ter)
|
rs2151585015
|
|
NM_001042492.3(NF1):c.8056del (p.Gln2686fs)
|
|
|
NM_001042492.3(NF1):c.8057A>G (p.Gln2686Arg)
|
rs890017184
|
|
NM_001042492.3(NF1):c.8058G>C (p.Gln2686His)
|
|
|
NM_001042492.3(NF1):c.8058G>T (p.Gln2686His)
|
|
|
NM_001042492.3(NF1):c.8059A>T (p.Ser2687Cys)
|
rs2070327470
|
|
NM_001042492.3(NF1):c.8059_8060del (p.Ser2687fs)
|
rs1060500387
|
|
NM_001042492.3(NF1):c.805C>T (p.Leu269=)
|
rs786202456
|
|
NM_001042492.3(NF1):c.8060G>T (p.Ser2687Ile)
|
rs1555536916
|
|
NM_001042492.3(NF1):c.8061T>C (p.Ser2687=)
|
rs786202936
|
|
NM_001042492.3(NF1):c.8062G>A (p.Val2688Met)
|
|
|
NM_001042492.3(NF1):c.8062G>T (p.Val2688Leu)
|
rs1567627780
|
|
NM_001042492.3(NF1):c.8064G>A (p.Val2688=)
|
rs876659082
|
|
NM_001042492.3(NF1):c.8064G>T (p.Val2688=)
|
|
|
NM_001042492.3(NF1):c.8065G>A (p.Val2689Met)
|
rs761214867
|
|
NM_001042492.3(NF1):c.8066del (p.Val2689fs)
|
rs1555536923
|
|
NM_001042492.3(NF1):c.8067G>T (p.Val2689=)
|
rs2151585058
|
|
NM_001042492.3(NF1):c.8070C>G (p.Tyr2690Ter)
|
|
|
NM_001042492.3(NF1):c.8071C>T (p.His2691Tyr)
|
|
|
NM_001042492.3(NF1):c.8071dup (p.His2691fs)
|
rs2151585069
|
|
NM_001042492.3(NF1):c.8072A>G (p.His2691Arg)
|
rs1597868213
|
|
NM_001042492.3(NF1):c.8073T>C (p.His2691=)
|
rs375468032
|
|
NM_001042492.3(NF1):c.8073_8080del (p.Glu2692fs)
|
rs2151585076
|
|
NM_001042492.3(NF1):c.8074G>T (p.Glu2692Ter)
|
rs2070327932
|
|
NM_001042492.3(NF1):c.8074del (p.Glu2692fs)
|
rs2070327979
|
|
NM_001042492.3(NF1):c.807A>G (p.Leu269=)
|
rs1333394353
|
|
NM_001042492.3(NF1):c.8080T>A (p.Ser2694Thr)
|
rs876658554
|
|
NM_001042492.3(NF1):c.8081C>A (p.Ser2694Tyr)
|
rs1597868223
|
|
NM_001042492.3(NF1):c.8082C>T (p.Ser2694=)
|
rs1597868236
|
|
NM_001042492.3(NF1):c.8083C>T (p.Pro2695Ser)
|
rs772707560
|
|
NM_001042492.3(NF1):c.8084C>T (p.Pro2695Leu)
|
rs2070328290
|
|
NM_001042492.3(NF1):c.8084CAC[1] (p.Pro2696del)
|
|
|
NM_001042492.3(NF1):c.8084_8089delinsA (p.Pro2695fs)
|
rs1597868244
|
|
NM_001042492.3(NF1):c.8084del (p.Pro2695fs)
|
rs1555536928
|
|
NM_001042492.3(NF1):c.8085del (p.Pro2696fs)
|
|
|
NM_001042492.3(NF1):c.8086C>A (p.Pro2696Thr)
|
rs764508546
|
|
NM_001042492.3(NF1):c.8086C>T (p.Pro2696Ser)
|
|
|
NM_001042492.3(NF1):c.8088A>C (p.Pro2696=)
|
rs2151585111
|
|
NM_001042492.3(NF1):c.8088A>G (p.Pro2696=)
|
|
|
NM_001042492.3(NF1):c.8089C>T (p.Gln2697Ter)
|
rs2151585114
|
|
NM_001042492.3(NF1):c.808C>T (p.Gln270Ter)
|
rs1555608970
|
|
NM_001042492.3(NF1):c.8090A>C (p.Gln2697Pro)
|
rs2151585121
|
|
NM_001042492.3(NF1):c.8090A>G (p.Gln2697Arg)
|
|
|
NM_001042492.3(NF1):c.8090_8093del (p.Gln2697fs)
|
|
|
NM_001042492.3(NF1):c.8091A>C (p.Gln2697His)
|
|
|
NM_001042492.3(NF1):c.8094C>A (p.Tyr2698Ter)
|
rs1597868268
|
|
NM_001042492.3(NF1):c.8094C>T (p.Tyr2698=)
|
rs1597868268
|
|
NM_001042492.3(NF1):c.8099_8100insTA (p.Ser2701fs)
|
|
|
NM_001042492.3(NF1):c.8099del (p.Thr2700fs)
|
|
|
NM_001042492.3(NF1):c.809A>C (p.Gln270Pro)
|
|
|
NM_001042492.3(NF1):c.809A>G (p.Gln270Arg)
|
rs1597659939
|
|
NM_001042492.3(NF1):c.809A>T (p.Gln270Leu)
|
|
|
NM_001042492.3(NF1):c.8100A>G (p.Thr2700=)
|
rs1597868278
|
|
NM_001042492.3(NF1):c.8103T>G (p.Ser2701=)
|
rs1555536935
|
|
NM_001042492.3(NF1):c.8106C>A (p.Tyr2702Ter)
|
|
|
NM_001042492.3(NF1):c.8107C>A (p.Leu2703Met)
|
rs955074155
|
|
NM_001042492.3(NF1):c.8107C>T (p.Leu2703=)
|
rs955074155
|
|
NM_001042492.3(NF1):c.8108T>C (p.Leu2703Pro)
|
|
|
NM_001042492.3(NF1):c.8109G>A (p.Leu2703=)
|
rs1397862679
|
|
NM_001042492.3(NF1):c.810A>G (p.Gln270=)
|
rs2066157647
|
|
NM_001042492.3(NF1):c.810_811dup (p.Ile271fs)
|
rs2143785938
|
|
NM_001042492.3(NF1):c.8111A>C (p.Gln2704Pro)
|
rs2151585162
|
|
NM_001042492.3(NF1):c.8112_8113del (p.Ser2705fs)
|
rs1555536947
|
|
NM_001042492.3(NF1):c.8113+10T>A
|
rs1336997870
|
|
NM_001042492.3(NF1):c.8113+10T>C
|
rs1336997870
|
|
NM_001042492.3(NF1):c.8113+12T>C
|
|
|
NM_001042492.3(NF1):c.8113+13A>T
|
|
|
NM_001042492.3(NF1):c.8113+14T>A
|
rs2151585204
|
|
NM_001042492.3(NF1):c.8113+14T>C
|
|
|
NM_001042492.3(NF1):c.8113+15C>T
|
|
|
NM_001042492.3(NF1):c.8113+17G>A
|
|
|
NM_001042492.3(NF1):c.8113+19A>G
|
|
|
NM_001042492.3(NF1):c.8113+22del
|
rs563852879
|
|
NM_001042492.3(NF1):c.8113+2T>G
|
rs1597868312
|
|
NM_001042492.3(NF1):c.8113+5del
|
|
|
NM_001042492.3(NF1):c.8113+6T>G
|
|
|
NM_001042492.3(NF1):c.8113+9A>T
|
rs2151585184
|
|
NM_001042492.3(NF1):c.8113A>G (p.Ser2705Gly)
|
rs1597868305
|
|
NM_001042492.3(NF1):c.8114-12G>C
|
|
|
NM_001042492.3(NF1):c.8114-13dup
|
|
|
NM_001042492.3(NF1):c.8114-14T>C
|
rs2151585916
|
|
NM_001042492.3(NF1):c.8114-15T>C
|
|
|
NM_001042492.3(NF1):c.8114-17A>G
|
|
|
NM_001042492.3(NF1):c.8114-1G>A
|
rs1597868727
|
|
NM_001042492.3(NF1):c.8114-2A>C
|
|
|
NM_001042492.3(NF1):c.8114-2A>G
|
|
|
NM_001042492.3(NF1):c.8114-40_8114-18del
|
|
|
NM_001042492.3(NF1):c.8114-4G>T
|
|
|
NM_001042492.3(NF1):c.8114-8T>G
|
|
|
NM_001042492.3(NF1):c.8118T>C (p.Phe2706=)
|
|
|
NM_001042492.3(NF1):c.8118del (p.Phe2706fs)
|
|
|
NM_001042492.3(NF1):c.8124T>A (p.Phe2708Leu)
|
rs2151585975
|
|
NM_001042492.3(NF1):c.8124del (p.Phe2708fs)
|
|
|
NM_001042492.3(NF1):c.8124dup (p.Asn2709Ter)
|
rs2070339252
|
|
NM_001042492.3(NF1):c.8126A>G (p.Asn2709Ser)
|
rs2070339296
|
|
NM_001042492.3(NF1):c.8127T>C (p.Asn2709=)
|
rs1555537015
|
|
NM_001042492.3(NF1):c.8127T>G (p.Asn2709Lys)
|
|
|
NM_001042492.3(NF1):c.8128G>A (p.Gly2710Ser)
|
|
|
NM_001042492.3(NF1):c.8129G>T (p.Gly2710Val)
|
rs1597868740
|
|
NM_001042492.3(NF1):c.812T>C (p.Ile271Thr)
|
rs1597659948
|
|
NM_001042492.3(NF1):c.8131T>C (p.Leu2711=)
|
|
|
NM_001042492.3(NF1):c.8133G>A (p.Leu2711=)
|
|
|
NM_001042492.3(NF1):c.8135G>A (p.Trp2712Ter)
|
|
|
NM_001042492.3(NF1):c.8136G>A (p.Trp2712Ter)
|
|
|
NM_001042492.3(NF1):c.8137C>A (p.Arg2713=)
|
rs757391670
|
|
NM_001042492.3(NF1):c.8137C>T (p.Arg2713Trp)
|
rs757391670
|
|
NM_001042492.3(NF1):c.8138G>A (p.Arg2713Gln)
|
rs1170836879
|
|
NM_001042492.3(NF1):c.8139dup (p.Phe2714fs)
|
rs1567628013
|
|
NM_001042492.3(NF1):c.8141T>A (p.Phe2714Tyr)
|
rs2151586035
|
|
NM_001042492.3(NF1):c.8142T>C (p.Phe2714=)
|
rs2151586040
|
|
NM_001042492.3(NF1):c.8142del (p.Phe2714fs)
|
rs2070340004
|
|
NM_001042492.3(NF1):c.8142dup (p.Ala2715fs)
|
rs2070340004
|
|
NM_001042492.3(NF1):c.8143G>A (p.Ala2715Thr)
|
rs2070340047
|
|
NM_001042492.3(NF1):c.8144C>T (p.Ala2715Val)
|
rs1597868802
|
|
NM_001042492.3(NF1):c.8145A>G (p.Ala2715=)
|
rs1555537028
|
|
NM_001042492.3(NF1):c.8148A>T (p.Gly2716=)
|
rs2151586062
|
|
NM_001042492.3(NF1):c.814A>G (p.Ile272Val)
|
rs1555608971
|
|
NM_001042492.3(NF1):c.8151G>C (p.Pro2717=)
|
rs2285895
|
|
NM_001042492.3(NF1):c.8152T>C (p.Phe2718Leu)
|
|
|
NM_001042492.3(NF1):c.8155del (p.Ser2719fs)
|
rs2151586074
|
|
NM_001042492.3(NF1):c.8156C>T (p.Ser2719Leu)
|
|
|
NM_001042492.3(NF1):c.8156del (p.Phe2718_Ser2719insTer)
|
|
|
NM_001042492.3(NF1):c.8158A>G (p.Lys2720Glu)
|
rs1597868832
|
|
NM_001042492.3(NF1):c.8158A>T (p.Lys2720Ter)
|
rs1597868832
|
|
NM_001042492.3(NF1):c.8159del (p.Lys2720fs)
|
rs1555537029
|
|
NM_001042492.3(NF1):c.8160+10T>A
|
|
|
NM_001042492.3(NF1):c.8160+10T>C
|
rs2151586114
|
|
NM_001042492.3(NF1):c.8160+11A>G
|
|
|
NM_001042492.3(NF1):c.8160+16T>G
|
|
|
NM_001042492.3(NF1):c.8160+18T>A
|
|
|
NM_001042492.3(NF1):c.8160+1G>A
|
rs1555537032
|
|
NM_001042492.3(NF1):c.8160+20T>C
|
|
|
NM_001042492.3(NF1):c.8160+2T>G
|
rs1135402909
|
|
NM_001042492.3(NF1):c.8160+4A>G
|
rs1555537033
|
|
NM_001042492.3(NF1):c.8160G>A (p.Lys2720=)
|
rs1555537030
|
|
NM_001042492.3(NF1):c.8160G>C (p.Lys2720Asn)
|
rs1555537030
|
|
NM_001042492.3(NF1):c.8161-10del
|
|
|
NM_001042492.3(NF1):c.8161-12T>C
|
|
|
NM_001042492.3(NF1):c.8161-14A>G
|
rs2070372493
|
|
NM_001042492.3(NF1):c.8161-16C>A
|
|
|
NM_001042492.3(NF1):c.8161-16C>G
|
|
|
NM_001042492.3(NF1):c.8161-17C>T
|
rs2151587536
|
|
NM_001042492.3(NF1):c.8161-18T>C
|
|
|
NM_001042492.3(NF1):c.8161-1G>A
|
rs2070372934
|
|
NM_001042492.3(NF1):c.8161-2A>G
|
|
|
NM_001042492.3(NF1):c.8161-2A>T
|
rs1344104003
|
|
NM_001042492.3(NF1):c.8161-3C>G
|
rs786203684
|
|
NM_001042492.3(NF1):c.8161-3C>T
|
rs786203684
|
|
NM_001042492.3(NF1):c.8161-4A>G
|
rs2151587589
|
|
NM_001042492.3(NF1):c.8161-4A>T
|
|
|
NM_001042492.3(NF1):c.8161-5del
|
rs2151587581
|
|
NM_001042492.3(NF1):c.8161-7A>G
|
rs767623039
|
|
NM_001042492.3(NF1):c.8161-8C>A
|
rs1425972521
|
|
NM_001042492.3(NF1):c.8161-8C>T
|
rs1425972521
|
|
NM_001042492.3(NF1):c.8161-9C>G
|
|
|
NM_001042492.3(NF1):c.8161-9C>T
|
|
|
NM_001042492.3(NF1):c.8161C>G (p.Gln2721Glu)
|
rs2070372971
|
|
NM_001042492.3(NF1):c.8162A>G (p.Gln2721Arg)
|
rs876657933
|
|
NM_001042492.3(NF1):c.8166A>G (p.Thr2722=)
|
rs2151587620
|
|
NM_001042492.3(NF1):c.8169A>G (p.Gln2723=)
|
|
|
NM_001042492.3(NF1):c.8170del (p.Ile2724fs)
|
rs2151587629
|
|
NM_001042492.3(NF1):c.8172_8179dup (p.Tyr2727fs)
|
rs2151587645
|
|
NM_001042492.3(NF1):c.8175A>G (p.Pro2725=)
|
rs1597870102
|
|
NM_001042492.3(NF1):c.8176G>A (p.Asp2726Asn)
|
rs1135402910
|
|
NM_001042492.3(NF1):c.8177A>G (p.Asp2726Gly)
|
|
|
NM_001042492.3(NF1):c.8179T>C (p.Tyr2727His)
|
rs876660178
|
|
NM_001042492.3(NF1):c.817del (p.Leu273fs)
|
rs1555608972
|
|
NM_001042492.3(NF1):c.8181T>C (p.Tyr2727=)
|
|
|
NM_001042492.3(NF1):c.8183C>A (p.Ala2728Asp)
|
|
|
NM_001042492.3(NF1):c.8183C>T (p.Ala2728Val)
|
rs760973918
|
|
NM_001042492.3(NF1):c.8184T>C (p.Ala2728=)
|
|
|
NM_001042492.3(NF1):c.8184T>G (p.Ala2728=)
|
rs1597870116
|
|
NM_001042492.3(NF1):c.8187G>A (p.Glu2729=)
|
|
|
NM_001042492.3(NF1):c.8188C>A (p.Leu2730Ile)
|
|
|
NM_001042492.3(NF1):c.8188C>T (p.Leu2730Phe)
|
rs2151587710
|
|
NM_001042492.3(NF1):c.818T>G (p.Leu273Arg)
|
|
|
NM_001042492.3(NF1):c.818del (p.Leu273fs)
|
rs2143786053
|
|
NM_001042492.3(NF1):c.8194_8196del (p.Val2732del)
|
rs2151587729
|
|
NM_001042492.3(NF1):c.8194del (p.Val2732fs)
|
|
|
NM_001042492.3(NF1):c.8196T>G (p.Val2732=)
|
rs1597870128
|
|
NM_001042492.3(NF1):c.8197_8198del (p.Lys2733fs)
|
|
|
NM_001042492.3(NF1):c.8198A>C (p.Lys2733Thr)
|
rs2070373730
|
|
NM_001042492.3(NF1):c.819C>T (p.Leu273=)
|
rs765595990
|
|
NM_001042492.3(NF1):c.819_821del (p.Leu274del)
|
rs2143786045
|
|
NM_001042492.3(NF1):c.81G>A (p.Gln27=)
|
rs1597625846
|
|
NM_001042492.3(NF1):c.8202T>C (p.Phe2734=)
|
rs764884159
|
|
NM_001042492.3(NF1):c.8202dup (p.Leu2735fs)
|
rs2151587760
|
|
NM_001042492.3(NF1):c.8203C>G (p.Leu2735Val)
|
|
|
NM_001042492.3(NF1):c.8203del (p.Asp2736fs)
|
rs2070373881
|
|
NM_001042492.3(NF1):c.8205_8214del (p.Asp2736fs)
|
rs1597870141
|
|
NM_001042492.3(NF1):c.8205del (p.Asp2736fs)
|
|
|
NM_001042492.3(NF1):c.8206G>A (p.Asp2736Asn)
|
rs1597870148
|
|
NM_001042492.3(NF1):c.8207A>G (p.Asp2736Gly)
|
|
|
NM_001042492.3(NF1):c.8209G>A (p.Ala2737Thr)
|
rs2151587791
|
|
NM_001042492.3(NF1):c.820C>T (p.Leu274Phe)
|
|
|
NM_001042492.3(NF1):c.820_822del (p.Leu274del)
|
|
|
NM_001042492.3(NF1):c.820_823dup (p.Ile275fs)
|
rs2066157933
|
|
NM_001042492.3(NF1):c.8210C>A (p.Ala2737Asp)
|
rs1264511763
|
|
NM_001042492.3(NF1):c.8210C>G (p.Ala2737Gly)
|
|
|
NM_001042492.3(NF1):c.8211C>G (p.Ala2737=)
|
rs1597870152
|
|
NM_001042492.3(NF1):c.8214G>A (p.Leu2738=)
|
rs786201597
|
|
NM_001042492.3(NF1):c.8215A>G (p.Ile2739Val)
|
|
|
NM_001042492.3(NF1):c.8217_8218delinsAA (p.Asp2740Asn)
|
|
|
NM_001042492.3(NF1):c.8218G>A (p.Asp2740Asn)
|
rs1555537228
|
|
NM_001042492.3(NF1):c.821T>C (p.Leu274Pro)
|
rs2066157974
|
|
NM_001042492.3(NF1):c.821T>G (p.Leu274Arg)
|
rs2066157974
|
|
NM_001042492.3(NF1):c.8220C>G (p.Asp2740Glu)
|
rs2070374242
|
|
NM_001042492.3(NF1):c.8222C>A (p.Thr2741Lys)
|
rs144178015
|
|
NM_001042492.3(NF1):c.8222C>T (p.Thr2741Met)
|
rs144178015
|
|
NM_001042492.3(NF1):c.8223G>A (p.Thr2741=)
|
rs777755159
|
|
NM_001042492.3(NF1):c.8223G>T (p.Thr2741=)
|
rs777755159
|
|
NM_001042492.3(NF1):c.8226C>T (p.Tyr2742=)
|
rs2151587846
|
|
NM_001042492.3(NF1):c.8227C>G (p.Leu2743Val)
|
rs1597870180
|
|
NM_001042492.3(NF1):c.8229G>A (p.Leu2743=)
|
rs1060503917
|
|
NM_001042492.3(NF1):c.822T>C (p.Leu274=)
|
rs1597659964
|
|
NM_001042492.3(NF1):c.8231C>G (p.Pro2744Arg)
|
|
|
NM_001042492.3(NF1):c.8232T>C (p.Pro2744=)
|
|
|
NM_001042492.3(NF1):c.8236A>G (p.Ile2746Val)
|
|
|
NM_001042492.3(NF1):c.8239G>A (p.Asp2747Asn)
|
rs745472917
|
|
NM_001042492.3(NF1):c.8239G>C (p.Asp2747His)
|
|
|
NM_001042492.3(NF1):c.823A>C (p.Ile275Leu)
|
rs786202464
|
|
NM_001042492.3(NF1):c.823A>T (p.Ile275Phe)
|
rs786202464
|
|
NM_001042492.3(NF1):c.823_827del (p.Ile275fs)
|
rs2143786096
|
|
NM_001042492.3(NF1):c.8240A>G (p.Asp2747Gly)
|
rs2151587891
|
|
NM_001042492.3(NF1):c.8243A>C (p.Glu2748Ala)
|
|
|
NM_001042492.3(NF1):c.8244A>T (p.Glu2748Asp)
|
rs878853919
|
|
NM_001042492.3(NF1):c.8246A>C (p.Glu2749Ala)
|
|
|
NM_001042492.3(NF1):c.8248A>G (p.Thr2750Ala)
|
|
|
NM_001042492.3(NF1):c.8249C>G (p.Thr2750Ser)
|
rs2070374835
|
|
NM_001042492.3(NF1):c.8249C>T (p.Thr2750Ile)
|
|
|
NM_001042492.3(NF1):c.8250C>G (p.Thr2750=)
|
rs769488796
|
|
NM_001042492.3(NF1):c.8250C>T (p.Thr2750=)
|
rs769488796
|
|
NM_001042492.3(NF1):c.8252G>A (p.Ser2751Asn)
|
rs2151587925
|
|
NM_001042492.3(NF1):c.8252G>T (p.Ser2751Ile)
|
rs2151587925
|
|
NM_001042492.3(NF1):c.8259A>C (p.Glu2753Asp)
|
rs2070374976
|
|
NM_001042492.3(NF1):c.825C>G (p.Ile275Met)
|
|
|
NM_001042492.3(NF1):c.825C>T (p.Ile275=)
|
rs1597659985
|
|
NM_001042492.3(NF1):c.8261C>T (p.Ser2754Phe)
|
rs2151587952
|
|
NM_001042492.3(NF1):c.8262C>A (p.Ser2754=)
|
rs1304800176
|
|
NM_001042492.3(NF1):c.8263C>G (p.Leu2755Val)
|
|
|
NM_001042492.3(NF1):c.8263C>T (p.Leu2755Phe)
|
|
|
NM_001042492.3(NF1):c.8265C>T (p.Leu2755=)
|
rs963516381
|
|
NM_001042492.3(NF1):c.8267T>A (p.Leu2756Gln)
|
rs1555537241
|
|
NM_001042492.3(NF1):c.8267T>G (p.Leu2756Arg)
|
rs1555537241
|
|
NM_001042492.3(NF1):c.8269_8293dup (p.Ala2765fs)
|
rs2151587957
|
|
NM_001042492.3(NF1):c.8270_8294dup (p.Leu2766fs)
|
rs1597870232
|
|
NM_001042492.3(NF1):c.8271T>A (p.Thr2757=)
|
rs2151587996
|
|
NM_001042492.3(NF1):c.8271T>C (p.Thr2757=)
|
rs2151587996
|
|
NM_001042492.3(NF1):c.8273C>G (p.Pro2758Arg)
|
rs2151588007
|
|
NM_001042492.3(NF1):c.8274C>A (p.Pro2758=)
|
rs1597870233
|
|
NM_001042492.3(NF1):c.8276C>T (p.Thr2759Ile)
|
|
|
NM_001042492.3(NF1):c.8277A>G (p.Thr2759=)
|
|
|
NM_001042492.3(NF1):c.8278T>G (p.Ser2760Ala)
|
rs2151588025
|
|
NM_001042492.3(NF1):c.827T>A (p.Leu276Ter)
|
rs2066158230
|
|
NM_001042492.3(NF1):c.827T>C (p.Leu276Ser)
|
|
|
NM_001042492.3(NF1):c.827del (p.Leu276fs)
|
rs2143786188
|
|
NM_001042492.3(NF1):c.8281C>T (p.Pro2761Ser)
|
rs2151588032
|
|
NM_001042492.3(NF1):c.8283T>G (p.Pro2761=)
|
rs1597870236
|
|
NM_001042492.3(NF1):c.8286C>T (p.Tyr2762=)
|
rs1597870245
|
|
NM_001042492.3(NF1):c.8287C>A (p.Pro2763Thr)
|
rs2070375557
|
|
NM_001042492.3(NF1):c.8288C>A (p.Pro2763His)
|
rs878853920
|
|
NM_001042492.3(NF1):c.8288C>T (p.Pro2763Leu)
|
|
|
NM_001042492.3(NF1):c.8289T>C (p.Pro2763=)
|
|
|
NM_001042492.3(NF1):c.828G>A (p.Leu276=)
|
rs2143786216
|
|
NM_001042492.3(NF1):c.8290C>T (p.Pro2764Ser)
|
|
|
NM_001042492.3(NF1):c.8292T>C (p.Pro2764=)
|
rs1555537246
|
|
NM_001042492.3(NF1):c.8293G>A (p.Ala2765Thr)
|
|
|
NM_001042492.3(NF1):c.8293G>C (p.Ala2765Pro)
|
|
|
NM_001042492.3(NF1):c.8294C>T (p.Ala2765Val)
|
|
|
NM_001042492.3(NF1):c.8295A>G (p.Ala2765=)
|
|
|
NM_001042492.3(NF1):c.8295_8296del (p.Leu2766fs)
|
rs2070375859
|
|
NM_001042492.3(NF1):c.8296C>T (p.Leu2766=)
|
rs749647961
|
|
NM_001042492.3(NF1):c.8297dup (p.Gln2767fs)
|
|
|
NM_001042492.3(NF1):c.829T>C (p.Cys277Arg)
|
|
|
NM_001042492.3(NF1):c.82C>T (p.Gln28Ter)
|
rs771764281
|
|
NM_001042492.3(NF1):c.8300A>G (p.Gln2767Arg)
|
rs2151588076
|
|
NM_001042492.3(NF1):c.8301G>A (p.Gln2767=)
|
rs1597870264
|
|
NM_001042492.3(NF1):c.8301_8322dup (p.Asn2775delinsGluProAlaTer)
|
rs1597870268
|
|
NM_001042492.3(NF1):c.8304C>T (p.Ser2768=)
|
rs1555537250
|
|
NM_001042492.3(NF1):c.8307G>C (p.Gln2769His)
|
|
|
NM_001042492.3(NF1):c.830G>A (p.Cys277Tyr)
|
rs2066158274
|
|
NM_001042492.3(NF1):c.8312G>C (p.Ser2771Thr)
|
rs2070376310
|
|
NM_001042492.3(NF1):c.8313T>C (p.Ser2771=)
|
|
|
NM_001042492.3(NF1):c.8314A>G (p.Ile2772Val)
|
rs762336662
|
|
NM_001042492.3(NF1):c.8318C>T (p.Thr2773Ile)
|
rs1597870290
|
|
NM_001042492.3(NF1):c.831T>A (p.Cys277Ter)
|
|
|
NM_001042492.3(NF1):c.831T>C (p.Cys277=)
|
rs2143786248
|
|
NM_001042492.3(NF1):c.8321C>T (p.Ala2774Val)
|
|
|
NM_001042492.3(NF1):c.8323A>T (p.Asn2775Tyr)
|
rs1555537252
|
|
NM_001042492.3(NF1):c.8324A>C (p.Asn2775Thr)
|
rs772090874
|
|
NM_001042492.3(NF1):c.8325C>G (p.Asn2775Lys)
|
|
|
NM_001042492.3(NF1):c.8325C>T (p.Asn2775=)
|
|
|
NM_001042492.3(NF1):c.8327T>G (p.Leu2776Arg)
|
|
|
NM_001042492.3(NF1):c.8331C>T (p.Asn2777=)
|
|
|
NM_001042492.3(NF1):c.8336C>G (p.Ser2779Cys)
|
|
|
NM_001042492.3(NF1):c.8337T>C (p.Ser2779=)
|
rs1597870309
|
|
NM_001042492.3(NF1):c.8339dup (p.Asn2780fs)
|
|
|
NM_001042492.3(NF1):c.8340T>G (p.Asn2780Lys)
|
|
|
NM_001042492.3(NF1):c.8343C>A (p.Ser2781=)
|
rs2151588196
|
|
NM_001042492.3(NF1):c.8348C>T (p.Thr2783Ile)
|
|
|
NM_001042492.3(NF1):c.8349C>T (p.Thr2783=)
|
|
|
NM_001042492.3(NF1):c.834A>G (p.Pro278=)
|
rs1318820078
|
|
NM_001042492.3(NF1):c.8350_8351del (p.Ser2784fs)
|
|
|
NM_001042492.3(NF1):c.8352A>G (p.Ser2784=)
|
|
|
NM_001042492.3(NF1):c.8357C>T (p.Ala2786Val)
|
rs2070377037
|
|
NM_001042492.3(NF1):c.835G>C (p.Glu279Gln)
|
|
|
NM_001042492.3(NF1):c.8362T>G (p.Ser2788Ala)
|
rs374004608
|
|
NM_001042492.3(NF1):c.8363C>T (p.Ser2788Phe)
|
rs1567628713
|
|
NM_001042492.3(NF1):c.8366A>G (p.Gln2789Arg)
|
rs1454723879
|
|
NM_001042492.3(NF1):c.8366A>T (p.Gln2789Leu)
|
rs1454723879
|
|
NM_001042492.3(NF1):c.8367G>A (p.Gln2789=)
|
rs786201780
|
|
NM_001042492.3(NF1):c.8369A>T (p.His2790Leu)
|
|
|
NM_001042492.3(NF1):c.8372C>T (p.Ser2791Phe)
|
rs1597870350
|
|
NM_001042492.3(NF1):c.8374C>G (p.Pro2792Ala)
|
|
|
NM_001042492.3(NF1):c.8374C>T (p.Pro2792Ser)
|
rs2070377546
|
|
NM_001042492.3(NF1):c.8375C>T (p.Pro2792Leu)
|
|
|
NM_001042492.3(NF1):c.8376A>C (p.Pro2792=)
|
rs1028961967
|
|
NM_001042492.3(NF1):c.8376A>G (p.Pro2792=)
|
|
|
NM_001042492.3(NF1):c.8377+10T>C
|
rs1321286725
|
|
NM_001042492.3(NF1):c.8377+16del
|
|
|
NM_001042492.3(NF1):c.8377+18T>G
|
|
|
NM_001042492.3(NF1):c.8377+19T>C
|
|
|
NM_001042492.3(NF1):c.8377+19T>G
|
|
|
NM_001042492.3(NF1):c.8377+20A>C
|
|
|
NM_001042492.3(NF1):c.8377+6509A>T
|
rs1343721620
|
|
NM_001042492.3(NF1):c.8377+6T>C
|
|
|
NM_001042492.3(NF1):c.8377+7A>G
|
|
|
NM_001042492.3(NF1):c.8378-10T>C
|
rs2151601186
|
|
NM_001042492.3(NF1):c.8378-11T>C
|
rs2151601181
|
|
NM_001042492.3(NF1):c.8378-13T>C
|
rs903336927
|
|
NM_001042492.3(NF1):c.8378-13T>G
|
rs903336927
|
|
NM_001042492.3(NF1):c.8378-14C>A
|
rs372802636
|
|
NM_001042492.3(NF1):c.8378-14C>G
|
rs372802636
|
|
NM_001042492.3(NF1):c.8378-14C>T
|
|
|
NM_001042492.3(NF1):c.8378-15T>A
|
|
|
NM_001042492.3(NF1):c.8378-17G>A
|
rs2151601146
|
|
NM_001042492.3(NF1):c.8378-17G>C
|
rs2151601146
|
|
NM_001042492.3(NF1):c.8378-17del
|
|
|
NM_001042492.3(NF1):c.8378-20G>A
|
|
|
NM_001042492.3(NF1):c.8378-20G>T
|
rs2151601130
|
|
NM_001042492.3(NF1):c.8378-4C>A
|
|
|
NM_001042492.3(NF1):c.8378-5214A>G
|
|
|
NM_001042492.3(NF1):c.8378-5T>C
|
|
|
NM_001042492.3(NF1):c.8378-7del
|
|
|
NM_001042492.3(NF1):c.8378-8T>G
|
|
|
NM_001042492.3(NF1):c.8378-9T>C
|
rs1453787016
|
|
NM_001042492.3(NF1):c.8379A>G (p.Gly2793=)
|
rs1597882952
|
|
NM_001042492.3(NF1):c.837_838del (p.Glu279fs)
|
|
|
NM_001042492.3(NF1):c.8380A>G (p.Ile2794Val)
|
rs2151601231
|
|
NM_001042492.3(NF1):c.8381T>C (p.Ile2794Thr)
|
rs2151601235
|
|
NM_001042492.3(NF1):c.8381T>G (p.Ile2794Ser)
|
|
|
NM_001042492.3(NF1):c.8382C>A (p.Ile2794=)
|
rs1060503890
|
|
NM_001042492.3(NF1):c.8382C>T (p.Ile2794=)
|
rs1060503890
|
|
NM_001042492.3(NF1):c.8383G>A (p.Asp2795Asn)
|
rs1475978079
|
|
NM_001042492.3(NF1):c.8383G>C (p.Asp2795His)
|
rs1475978079
|
|
NM_001042492.3(NF1):c.8389_8391del (p.Glu2797del)
|
rs1555538511
|
|
NM_001042492.3(NF1):c.838del (p.Glu279_Ile280insTer)
|
rs2066158359
|
|
NM_001042492.3(NF1):c.8392A>T (p.Asn2798Tyr)
|
rs1555538514
|
|
NM_001042492.3(NF1):c.8393A>G (p.Asn2798Ser)
|
rs1555538515
|
|
NM_001042492.3(NF1):c.8394C>G (p.Asn2798Lys)
|
rs376136174
|
|
NM_001042492.3(NF1):c.8395G>C (p.Val2799Leu)
|
rs377393842
|
|
NM_001042492.3(NF1):c.8395G>T (p.Val2799Phe)
|
rs377393842
|
|
NM_001042492.3(NF1):c.8396T>C (p.Val2799Ala)
|
rs2070695501
|
|
NM_001042492.3(NF1):c.8398G>A (p.Glu2800Lys)
|
rs1597882991
|
|
NM_001042492.3(NF1):c.8399A>C (p.Glu2800Ala)
|
rs753479281
|
|
NM_001042492.3(NF1):c.839_878dup (p.Asn293_Met294insAsnProGlyTyrIleGlnArgArgGlyTer)
|
|
|
NM_001042492.3(NF1):c.8400A>G (p.Glu2800=)
|
rs1597883005
|
|
NM_001042492.3(NF1):c.8403C>G (p.Leu2801=)
|
|
|
NM_001042492.3(NF1):c.8404T>C (p.Ser2802Pro)
|
rs1597883017
|
|
NM_001042492.3(NF1):c.8405C>A (p.Ser2802Tyr)
|
rs754638282
|
|
NM_001042492.3(NF1):c.8405C>G (p.Ser2802Cys)
|
|
|
NM_001042492.3(NF1):c.8407C>A (p.Pro2803Thr)
|
rs779180729
|
|
NM_001042492.3(NF1):c.8407C>G (p.Pro2803Ala)
|
rs779180729
|
|
NM_001042492.3(NF1):c.8407C>T (p.Pro2803Ser)
|
rs779180729
|
|
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.8414C>G (p.Thr2805Ser)
|
|
|
NM_001042492.3(NF1):c.8416G>A (p.Gly2806Ser)
|
|
|
NM_001042492.3(NF1):c.8418C>T (p.Gly2806=)
|
rs1555538535
|
|
NM_001042492.3(NF1):c.8420A>G (p.His2807Arg)
|
rs2070695954
|
|
NM_001042492.3(NF1):c.8420A>T (p.His2807Leu)
|
rs2070695954
|
|
NM_001042492.3(NF1):c.8421C>A (p.His2807Gln)
|
rs1326795798
|
|
NM_001042492.3(NF1):c.8422T>C (p.Cys2808Arg)
|
rs1597883056
|
|
NM_001042492.3(NF1):c.8422_8427del (p.Cys2808_Asn2809del)
|
rs2070696010
|
|
NM_001042492.3(NF1):c.8423G>A (p.Cys2808Tyr)
|
|
|
NM_001042492.3(NF1):c.8426A>G (p.Asn2809Ser)
|
|
|
NM_001042492.3(NF1):c.8427C>T (p.Asn2809=)
|
rs2151601390
|
|
NM_001042492.3(NF1):c.8428A>C (p.Ser2810Arg)
|
|
|
NM_001042492.3(NF1):c.8428A>G (p.Ser2810Gly)
|
rs1597883071
|
|
NM_001042492.3(NF1):c.8429G>A (p.Ser2810Asn)
|
|
|
NM_001042492.3(NF1):c.8430T>C (p.Ser2810=)
|
|
|
NM_001042492.3(NF1):c.8434C>T (p.Arg2812Ter)
|
|
|
NM_001042492.3(NF1):c.8437A>T (p.Thr2813Ser)
|
rs1597883075
|
|
NM_001042492.3(NF1):c.8438C>G (p.Thr2813Ser)
|
rs2070696371
|
|
NM_001042492.3(NF1):c.843C>T (p.Ile281=)
|
rs146094856
|
|
NM_001042492.3(NF1):c.8440C>T (p.Arg2814Cys)
|
rs876658139
|
|
NM_001042492.3(NF1):c.8441G>A (p.Arg2814His)
|
|
|
NM_001042492.3(NF1):c.8443C>T (p.His2815Tyr)
|
rs2070696484
|
|
NM_001042492.3(NF1):c.8445C>A (p.His2815Gln)
|
rs1597883082
|
|
NM_001042492.3(NF1):c.8445C>T (p.His2815=)
|
rs1597883082
|
|
NM_001042492.3(NF1):c.8447G>T (p.Gly2816Val)
|
|
|
NM_001042492.3(NF1):c.8448A>G (p.Gly2816=)
|
rs2070696565
|
|
NM_001042492.3(NF1):c.844C>T (p.Gln282Ter)
|
rs753054046
|
|
NM_001042492.3(NF1):c.8450C>A (p.Ser2817Tyr)
|
|
|
NM_001042492.3(NF1):c.8450C>T (p.Ser2817Phe)
|
rs1048863798
|
|
NM_001042492.3(NF1):c.8451C>A (p.Ser2817=)
|
|
|
NM_001042492.3(NF1):c.8452G>A (p.Ala2818Thr)
|
rs771006452
|
|
NM_001042492.3(NF1):c.8457C>T (p.Ser2819=)
|
|
|
NM_001042492.3(NF1):c.8458C>G (p.Gln2820Glu)
|
rs2151601501
|
|
NM_001042492.3(NF1):c.8460A>G (p.Gln2820=)
|
rs2070696927
|
|
NM_001042492.3(NF1):c.8461G>A (p.Val2821Met)
|
rs1567634549
|
|
NM_001042492.3(NF1):c.8465A>G (p.Gln2822Arg)
|
|
|
NM_001042492.3(NF1):c.8465A>T (p.Gln2822Leu)
|
|
|
NM_001042492.3(NF1):c.8466G>A (p.Gln2822=)
|
rs2151601527
|
|
NM_001042492.3(NF1):c.8469G>A (p.Lys2823=)
|
rs1203883572
|
|
NM_001042492.3(NF1):c.8469G>T (p.Lys2823Asn)
|
rs1203883572
|
|
NM_001042492.3(NF1):c.8471A>C (p.Gln2824Pro)
|
|
|
NM_001042492.3(NF1):c.8471A>G (p.Gln2824Arg)
|
|
|
NM_001042492.3(NF1):c.8472A>G (p.Gln2824=)
|
rs2151601534
|
|
NM_001042492.3(NF1):c.8477G>C (p.Ser2826Thr)
|
rs1057523477
|
|
NM_001042492.3(NF1):c.8477G>T (p.Ser2826Ile)
|
|
|
NM_001042492.3(NF1):c.8479G>A (p.Ala2827Thr)
|
rs199878086
|
|
NM_001042492.3(NF1):c.847G>A (p.Asp283Asn)
|
rs200572531
|
|
NM_001042492.3(NF1):c.847G>C (p.Asp283His)
|
|
|
NM_001042492.3(NF1):c.847_854del (p.Asp283fs)
|
rs2066158802
|
|
NM_001042492.3(NF1):c.8481T>C (p.Ala2827=)
|
rs1555538546
|
|
NM_001042492.3(NF1):c.8482G>A (p.Gly2828Ser)
|
rs2070697456
|
|
NM_001042492.3(NF1):c.8485A>G (p.Ser2829Gly)
|
|
|
NM_001042492.3(NF1):c.8486G>A (p.Ser2829Asn)
|
|
|
NM_001042492.3(NF1):c.8489_8493del (p.Phe2830fs)
|
|
|
NM_001042492.3(NF1):c.848A>G (p.Asp283Gly)
|
rs878853921
|
|
NM_001042492.3(NF1):c.848del (p.Asp283fs)
|
|
|
NM_001042492.3(NF1):c.8490C>G (p.Phe2830Leu)
|
rs760550772
|
|
NM_001042492.3(NF1):c.8494C>A (p.Arg2832Ser)
|
|
|
NM_001042492.3(NF1):c.8495G>T (p.Arg2832Leu)
|
|
|
NM_001042492.3(NF1):c.8497A>C (p.Asn2833His)
|
rs786202863
|
|
NM_001042492.3(NF1):c.8498A>G (p.Asn2833Ser)
|
rs1567634576
|
|
NM_001042492.3(NF1):c.8498dup (p.Asn2833fs)
|
|
|
NM_001042492.3(NF1):c.8499T>G (p.Asn2833Lys)
|
rs142636150
|
|
NM_001042492.3(NF1):c.849T>C (p.Asp283=)
|
rs2143786554
|
|
NM_001042492.3(NF1):c.8500A>C (p.Ser2834Arg)
|
|
|
NM_001042492.3(NF1):c.8501G>A (p.Ser2834Asn)
|
|
|
NM_001042492.3(NF1):c.8501G>T (p.Ser2834Ile)
|
rs2151601621
|
|
NM_001042492.3(NF1):c.8502C>G (p.Ser2834Arg)
|
|
|
NM_001042492.3(NF1):c.8503A>C (p.Ile2835Leu)
|
|
|
NM_001042492.3(NF1):c.8503A>G (p.Ile2835Val)
|
rs2151601629
|
|
NM_001042492.3(NF1):c.8504T>C (p.Ile2835Thr)
|
|
|
NM_001042492.3(NF1):c.8505T>C (p.Ile2835=)
|
rs1192855534
|
|
NM_001042492.3(NF1):c.8506A>G (p.Lys2836Glu)
|
|
|
NM_001042492.3(NF1):c.8507AGA[1] (p.Lys2837del)
|
rs1555538565
|
|
NM_001042492.3(NF1):c.8509A>C (p.Lys2837Gln)
|
rs2070698110
|
|
NM_001042492.3(NF1):c.8511G>A (p.Lys2837=)
|
rs752398289
|
|
NM_001042492.3(NF1):c.8511G>T (p.Lys2837Asn)
|
|
|
NM_001042492.3(NF1):c.8514C>G (p.Ile2838Met)
|
rs1567634589
|
|
NM_001042492.3(NF1):c.8515G>C (p.Val2839Leu)
|
rs368149035
|
|
NM_001042492.3(NF1):c.8516T>C (p.Val2839Ala)
|
rs2151601671
|
|
NM_001042492.3(NF1):c.8519G>A (p.Ter2840=)
|
rs2151601679
|
|
NM_001042492.3(NF1):c.851T>C (p.Ile284Thr)
|
rs2066158910
|
|
NM_001042492.3(NF1):c.851_854dup (p.Lys286fs)
|
rs2066158952
|
|
NM_001042492.3(NF1):c.852A>G (p.Ile284Met)
|
rs1567826762
|
|
NM_001042492.3(NF1):c.852_853del (p.Ser285fs)
|
|
|
NM_001042492.3(NF1):c.852_853dup (p.Ser285fs)
|
|
|
NM_001042492.3(NF1):c.853del (p.Ser285fs)
|
|
|
NM_001042492.3(NF1):c.854C>T (p.Ser285Phe)
|
rs2066159067
|
|
NM_001042492.3(NF1):c.855C>T (p.Ser285=)
|
rs1445215573
|
|
NM_001042492.3(NF1):c.855del (p.Asp287fs)
|
rs2143786639
|
|
NM_001042492.3(NF1):c.859del (p.Asp287fs)
|
|
|
NM_001042492.3(NF1):c.862G>C (p.Val288Leu)
|
|
|
NM_001042492.3(NF1):c.862del (p.Val288fs)
|
rs1135402797
|
|
NM_001042492.3(NF1):c.863del (p.Val288fs)
|
|
|
NM_001042492.3(NF1):c.864G>T (p.Val288=)
|
rs201181517
|
|
NM_001042492.3(NF1):c.865G>A (p.Val289Ile)
|
rs1326607708
|
|
NM_001042492.3(NF1):c.865G>C (p.Val289Leu)
|
|
|
NM_001042492.3(NF1):c.866T>C (p.Val289Ala)
|
rs749251299
|
|
NM_001042492.3(NF1):c.867T>G (p.Val289=)
|
|
|
NM_001042492.3(NF1):c.867del (p.Asp290fs)
|
|
|
NM_001042492.3(NF1):c.868G>A (p.Asp290Asn)
|
rs1597660081
|
|
NM_001042492.3(NF1):c.86A>G (p.Asn29Ser)
|
|
|
NM_001042492.3(NF1):c.871G>A (p.Glu291Lys)
|
rs2143786875
|
|
NM_001042492.3(NF1):c.871G>T (p.Glu291Ter)
|
rs2143786875
|
|
NM_001042492.3(NF1):c.872A>C (p.Glu291Ala)
|
rs876660171
|
|
NM_001042492.3(NF1):c.875A>C (p.Asn292Thr)
|
rs2143786939
|
|
NM_001042492.3(NF1):c.875del (p.Asn292fs)
|
rs1597660090
|
|
NM_001042492.3(NF1):c.877A>G (p.Asn293Asp)
|
rs2143786964
|
|
NM_001042492.3(NF1):c.878del (p.Asn293fs)
|
rs2066159719
|
|
NM_001042492.3(NF1):c.879C>T (p.Asn293=)
|
rs1597660105
|
|
NM_001042492.3(NF1):c.87C>A (p.Asn29Lys)
|
|
|
NM_001042492.3(NF1):c.87C>T (p.Asn29=)
|
rs1060503914
|
|
NM_001042492.3(NF1):c.880A>G (p.Met294Val)
|
rs1597660112
|
|
NM_001042492.3(NF1):c.880_881insATTC (p.Met294fs)
|
|
|
NM_001042492.3(NF1):c.882_885del (p.Met294fs)
|
rs1567826819
|
|
NM_001042492.3(NF1):c.884A>G (p.Asn295Ser)
|
rs1555608994
|
|
NM_001042492.3(NF1):c.885T>A (p.Asn295Lys)
|
rs864622300
|
|
NM_001042492.3(NF1):c.886A>G (p.Lys296Glu)
|
|
|
NM_001042492.3(NF1):c.886A>T (p.Lys296Ter)
|
rs1135402798
|
|
NM_001042492.3(NF1):c.888+11C>A
|
|
|
NM_001042492.3(NF1):c.888+13A>G
|
|
|
NM_001042492.3(NF1):c.888+15del
|
rs2143787260
|
|
NM_001042492.3(NF1):c.888+18A>C
|
rs2143787331
|
|
NM_001042492.3(NF1):c.888+18A>G
|
|
|
NM_001042492.3(NF1):c.888+19T>A
|
|
|
NM_001042492.3(NF1):c.888+19T>C
|
|
|
NM_001042492.3(NF1):c.888+1G>A
|
rs1135402799
|
|
NM_001042492.3(NF1):c.888+1G>C
|
rs1135402799
|
|
NM_001042492.3(NF1):c.888+1G>T
|
rs1135402799
|
|
NM_001042492.3(NF1):c.888+2T>A
|
rs2066160116
|
|
NM_001042492.3(NF1):c.888+2T>C
|
rs2066160116
|
|
NM_001042492.3(NF1):c.888+2T>G
|
rs2066160116
|
|
NM_001042492.3(NF1):c.888+2_888+5del
|
|
|
NM_001042492.3(NF1):c.888+3A>G
|
rs2143787137
|
|
NM_001042492.3(NF1):c.888+6G>A
|
rs1555609000
|
|
NM_001042492.3(NF1):c.888+6G>T
|
rs1555609000
|
|
NM_001042492.3(NF1):c.888+789A>G
|
rs1597660974
|
|
NM_001042492.3(NF1):c.888+7A>C
|
|
|
NM_001042492.3(NF1):c.888+9G>T
|
rs1274043045
|
|
NM_001042492.3(NF1):c.888G>A (p.Lys296=)
|
rs1597660134
|
|
NM_001042492.3(NF1):c.889-15A>G
|
|
|
NM_001042492.3(NF1):c.889-16T>C
|
rs2143871571
|
|
NM_001042492.3(NF1):c.889-18T>C
|
|
|
NM_001042492.3(NF1):c.889-18T>G
|
|
|
NM_001042492.3(NF1):c.889-19C>T
|
|
|
NM_001042492.3(NF1):c.889-1G>A
|
rs587781517
|
|
NM_001042492.3(NF1):c.889-1G>C
|
rs587781517
|
|
NM_001042492.3(NF1):c.889-1G>T
|
rs587781517
|
|
NM_001042492.3(NF1):c.889-20G>T
|
|
|
NM_001042492.3(NF1):c.889-21C>A
|
rs753797445
|
|
NM_001042492.3(NF1):c.889-21C>T
|
|
|
NM_001042492.3(NF1):c.889-22_889-20del
|
|
|
NM_001042492.3(NF1):c.889-2A>G
|
rs878853922
|
|
NM_001042492.3(NF1):c.889-2A>T
|
rs878853922
|
|
NM_001042492.3(NF1):c.889-2del
|
rs1567834983
|
|
NM_001042492.3(NF1):c.889-453_908del
|
rs1555610774
|
|
NM_001042492.3(NF1):c.889-6C>G
|
|
|
NM_001042492.3(NF1):c.889-894_1261-284del
|
|
|
NM_001042492.3(NF1):c.889-8T>G
|
rs1452485831
|
|
NM_001042492.3(NF1):c.889-9A>G
|
|
|
NM_001042492.3(NF1):c.889A>C (p.Lys297Gln)
|
rs786202384
|
|
NM_001042492.3(NF1):c.889A>T (p.Lys297Ter)
|
rs786202384
|
|
NM_001042492.3(NF1):c.88A>C (p.Thr30Pro)
|
rs1555604881
|
|
NM_001042492.3(NF1):c.88A>G (p.Thr30Ala)
|
|
|
NM_001042492.3(NF1):c.88del (p.Thr30fs)
|
rs2143625553
|
|
NM_001042492.3(NF1):c.893T>C (p.Leu298Ser)
|
|
|
NM_001042492.3(NF1):c.894A>C (p.Leu298Phe)
|
|
|
NM_001042492.3(NF1):c.894A>T (p.Leu298Phe)
|
|
|
NM_001042492.3(NF1):c.894del (p.Leu298fs)
|
rs2143872026
|
|
NM_001042492.3(NF1):c.896T>C (p.Phe299Ser)
|
|
|
NM_001042492.3(NF1):c.897del (p.Leu300fs)
|
|
|
NM_001042492.3(NF1):c.899T>C (p.Leu300Pro)
|
rs2066505649
|
|
NM_001042492.3(NF1):c.900G>C (p.Leu300=)
|
rs1597680750
|
|
NM_001042492.3(NF1):c.900_908del (p.Asp301_Leu303del)
|
|
|
NM_001042492.3(NF1):c.901G>A (p.Asp301Asn)
|
rs2066505718
|
|
NM_001042492.3(NF1):c.901G>C (p.Asp301His)
|
|
|
NM_001042492.3(NF1):c.903C>T (p.Asp301=)
|
|
|
NM_001042492.3(NF1):c.903_913del (p.Asp301fs)
|
rs2066505751
|
|
NM_001042492.3(NF1):c.905G>A (p.Ser302Asn)
|
rs786202746
|
|
NM_001042492.3(NF1):c.906T>C (p.Ser302=)
|
|
|
NM_001042492.3(NF1):c.907C>G (p.Leu303Val)
|
rs1555610847
|
|
NM_001042492.3(NF1):c.907_908del (p.Leu303fs)
|
|
|
NM_001042492.3(NF1):c.908T>C (p.Leu303Pro)
|
|
|
NM_001042492.3(NF1):c.908T>G (p.Leu303Arg)
|
|
|
NM_001042492.3(NF1):c.908del (p.Leu303fs)
|
rs1555610848
|
|
NM_001042492.3(NF1):c.909_910delinsTT (p.Arg304Ter)
|
rs1555610854
|
|
NM_001042492.3(NF1):c.910C>G (p.Arg304Gly)
|
rs786203950
|
|
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter)
|
rs786203950
|
|
NM_001042492.3(NF1):c.910del (p.Arg304fs)
|
|
|
NM_001042492.3(NF1):c.911G>T (p.Arg304Leu)
|
rs76015786
|
|
NM_001042492.3(NF1):c.913A>G (p.Lys305Glu)
|
rs1567835041
|
|
NM_001042492.3(NF1):c.915dup (p.Ala306fs)
|
|
|
NM_001042492.3(NF1):c.916del (p.Ala306fs)
|
rs2143872349
|
|
NM_001042492.3(NF1):c.918T>A (p.Ala306=)
|
|
|
NM_001042492.3(NF1):c.918T>C (p.Ala306=)
|
|
|
NM_001042492.3(NF1):c.91C>G (p.His31Asp)
|
rs786202864
|
|
NM_001042492.3(NF1):c.91_92del (p.His31fs)
|
rs1567814432
|
|
NM_001042492.3(NF1):c.91_92dup (p.Thr32fs)
|
rs1567814432
|
|
NM_001042492.3(NF1):c.91del (p.His31fs)
|
|
|
NM_001042492.3(NF1):c.921T>A (p.Leu307=)
|
|
|
NM_001042492.3(NF1):c.921_924dup (p.Gly309fs)
|
|
|
NM_001042492.3(NF1):c.921del (p.Ala308fs)
|
|
|
NM_001042492.3(NF1):c.922_923delinsTT (p.Ala308Phe)
|
rs1597680797
|
|
NM_001042492.3(NF1):c.923C>G (p.Ala308Gly)
|
rs876660836
|
|
NM_001042492.3(NF1):c.923C>T (p.Ala308Val)
|
|
|
NM_001042492.3(NF1):c.924_927del (p.Gly309fs)
|
rs1060500301
|
|
NM_001042492.3(NF1):c.925_926delinsAT (p.Gly309Ile)
|
|
|
NM_001042492.3(NF1):c.926G>A (p.Gly309Asp)
|
rs1555610862
|
|
NM_001042492.3(NF1):c.926G>T (p.Gly309Val)
|
|
|
NM_001042492.3(NF1):c.927C>A (p.Gly309=)
|
|
|
NM_001042492.3(NF1):c.927C>G (p.Gly309=)
|
|
|
NM_001042492.3(NF1):c.928C>T (p.His310Tyr)
|
rs1597680837
|
|
NM_001042492.3(NF1):c.929A>G (p.His310Arg)
|
|
|
NM_001042492.3(NF1):c.92A>G (p.His31Arg)
|
rs199474725
|
|
NM_001042492.3(NF1):c.92_95dup (p.Lys33fs)
|
|
|
NM_001042492.3(NF1):c.930T>A (p.His310Gln)
|
rs1555610865
|
|
NM_001042492.3(NF1):c.930T>C (p.His310=)
|
rs1555610865
|
|
NM_001042492.3(NF1):c.930T>G (p.His310Gln)
|
rs1555610865
|
|
NM_001042492.3(NF1):c.933_934dup (p.Gly312fs)
|
|
|
NM_001042492.3(NF1):c.936A>C (p.Gly312=)
|
rs876658874
|
|
NM_001042492.3(NF1):c.937A>G (p.Ser313Gly)
|
rs373320953
|
|
NM_001042492.3(NF1):c.937del (p.Ser313fs)
|
rs2143872679
|
|
NM_001042492.3(NF1):c.938G>C (p.Ser313Thr)
|
rs2066506773
|
|
NM_001042492.3(NF1):c.938G>T (p.Ser313Ile)
|
|
|
NM_001042492.3(NF1):c.93T>A (p.His31Gln)
|
rs2143625630
|
|
NM_001042492.3(NF1):c.93T>C (p.His31=)
|
|
|
NM_001042492.3(NF1):c.93_94insTA (p.Thr32Ter)
|
|
|
NM_001042492.3(NF1):c.942G>A (p.Arg314=)
|
rs786203445
|
|
NM_001042492.3(NF1):c.942_943delinsTT (p.Arg314_Gln315delinsSerTer)
|
|
|
NM_001042492.3(NF1):c.943C>T (p.Gln315Ter)
|
rs766011053
|
|
NM_001042492.3(NF1):c.944_945insTGCC (p.Gln315fs)
|
rs2066506904
|
|
NM_001042492.3(NF1):c.944del (p.Gln315fs)
|
|
|
NM_001042492.3(NF1):c.945G>A (p.Gln315=)
|
|
|
NM_001042492.3(NF1):c.945_946delinsAA (p.Leu316Met)
|
rs267606609
|
|
NM_001042492.3(NF1):c.946C>G (p.Leu316Val)
|
|
|
NM_001042492.3(NF1):c.946C>T (p.Leu316=)
|
|
|
NM_001042492.3(NF1):c.948G>C (p.Leu316=)
|
rs876658782
|
|
NM_001042492.3(NF1):c.94A>G (p.Thr32Ala)
|
|
|
NM_001042492.3(NF1):c.94dup (p.Thr32fs)
|
rs2143625661
|
|
NM_001042492.3(NF1):c.950C>T (p.Thr317Ile)
|
|
|
NM_001042492.3(NF1):c.951A>G (p.Thr317=)
|
|
|
NM_001042492.3(NF1):c.952_953del (p.Glu318fs)
|
rs2066507116
|
|
NM_001042492.3(NF1):c.952del (p.Glu318fs)
|
rs1555610881
|
|
NM_001042492.3(NF1):c.953_956del (p.Glu318fs)
|
|
|
NM_001042492.3(NF1):c.955dup (p.Ser319fs)
|
rs876660931
|
|
NM_001042492.3(NF1):c.956G>A (p.Ser319Asn)
|
|
|
NM_001042492.3(NF1):c.956del (p.Ser319fs)
|
|
|
NM_001042492.3(NF1):c.957T>C (p.Ser319=)
|
rs2143872954
|
|
NM_001042492.3(NF1):c.958G>C (p.Ala320Pro)
|
rs2066507272
|
|
NM_001042492.3(NF1):c.959C>A (p.Ala320Asp)
|
rs1555610884
|
|
NM_001042492.3(NF1):c.959del (p.Ala320fs)
|
|
|
NM_001042492.3(NF1):c.95C>A (p.Thr32Asn)
|
rs2065655236
|
|
NM_001042492.3(NF1):c.960T>G (p.Ala320=)
|
rs376447070
|
|
NM_001042492.3(NF1):c.961G>C (p.Ala321Pro)
|
rs2066507408
|
|
NM_001042492.3(NF1):c.962C>T (p.Ala321Val)
|
rs2143873023
|
|
NM_001042492.3(NF1):c.962dup (p.Ile322fs)
|
|
|
NM_001042492.3(NF1):c.963A>C (p.Ala321=)
|
|
|
NM_001042492.3(NF1):c.963A>G (p.Ala321=)
|
|
|
NM_001042492.3(NF1):c.964del (p.Ile322fs)
|
rs1597680909
|
|
NM_001042492.3(NF1):c.965T>C (p.Ile322Thr)
|
rs1417994243
|
|
NM_001042492.3(NF1):c.966del (p.Ile322fs)
|
|
|
NM_001042492.3(NF1):c.967G>A (p.Ala323Thr)
|
rs2143873082
|
|
NM_001042492.3(NF1):c.967dup (p.Ala323fs)
|
rs2143873095
|
|
NM_001042492.3(NF1):c.968C>A (p.Ala323Asp)
|
rs2066507556
|
|
NM_001042492.3(NF1):c.969C>G (p.Ala323=)
|
rs786201462
|
|
NM_001042492.3(NF1):c.96C>A (p.Thr32=)
|
rs1555604886
|
|
NM_001042492.3(NF1):c.96C>G (p.Thr32=)
|
rs1555604886
|
|
NM_001042492.3(NF1):c.970T>C (p.Cys324Arg)
|
rs199474735
|
|
NM_001042492.3(NF1):c.970del (p.Cys324fs)
|
|
|
NM_001042492.3(NF1):c.971G>A (p.Cys324Tyr)
|
rs778890596
|
|
NM_001042492.3(NF1):c.972T>A (p.Cys324Ter)
|
rs1597680938
|
|
NM_001042492.3(NF1):c.974T>G (p.Val325Gly)
|
rs1422095982
|
|
NM_001042492.3(NF1):c.974del (p.Val325fs)
|
rs2143873205
|
|
NM_001042492.3(NF1):c.975C>T (p.Val325=)
|
rs747954452
|
|
NM_001042492.3(NF1):c.976A>G (p.Lys326Glu)
|
rs1597680956
|
|
NM_001042492.3(NF1):c.976_979dup (p.Leu327fs)
|
|
|
NM_001042492.3(NF1):c.977A>G (p.Lys326Arg)
|
rs2066507912
|
|
NM_001042492.3(NF1):c.978A>G (p.Lys326=)
|
rs1555610891
|
|
NM_001042492.3(NF1):c.978_980del (p.Leu327del)
|
rs2066507983
|
|
NM_001042492.3(NF1):c.979_997del (p.Leu327fs)
|
rs1597680978
|
|
NM_001042492.3(NF1):c.97A>G (p.Lys33Glu)
|
rs1060500324
|
|
NM_001042492.3(NF1):c.97A>T (p.Lys33Ter)
|
rs1060500324
|
|
NM_001042492.3(NF1):c.980T>C (p.Leu327Pro)
|
rs201624827
|
|
NM_001042492.3(NF1):c.980T>G (p.Leu327Arg)
|
rs201624827
|
|
NM_001042492.3(NF1):c.980del (p.Leu327fs)
|
|
|
NM_001042492.3(NF1):c.981G>A (p.Leu327=)
|
|
|
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.984T>G (p.Cys328Trp)
|
|
|
NM_001042492.3(NF1):c.984del (p.Leu327_Cys328insTer)
|
|
|
NM_001042492.3(NF1):c.986A>C (p.Lys329Thr)
|
|
|
NM_001042492.3(NF1):c.987A>G (p.Lys329=)
|
rs2066508210
|
|
NM_001042492.3(NF1):c.987del (p.Ala330fs)
|
rs2143873403
|
|
NM_001042492.3(NF1):c.988G>C (p.Ala330Pro)
|
rs199474767
|
|
NM_001042492.3(NF1):c.988_995del (p.Ala330fs)
|
rs1567835161
|
|
NM_001042492.3(NF1):c.988del (p.Ala330fs)
|
rs1555610896
|
|
NM_001042492.3(NF1):c.989C>T (p.Ala330Val)
|
rs1555610898
|
|
NM_001042492.3(NF1):c.98A>G (p.Lys33Arg)
|
rs1555604887
|
|
NM_001042492.3(NF1):c.98_99del (p.Lys33fs)
|
|
|
NM_001042492.3(NF1):c.992G>C (p.Ser331Thr)
|
rs1555610899
|
|
NM_001042492.3(NF1):c.992_1016del (p.Ser331fs)
|
|
|
NM_001042492.3(NF1):c.993T>C (p.Ser331=)
|
|
|
NM_001042492.3(NF1):c.996T>A (p.Thr332=)
|
rs2143873555
|
|
NM_001042492.3(NF1):c.996T>C (p.Thr332=)
|
|
|
NM_001042492.3(NF1):c.996T>G (p.Thr332=)
|
|
|
NM_001042492.3(NF1):c.996_999del (p.Tyr333fs)
|
rs1555610900
|
|
NM_001042492.3(NF1):c.997T>C (p.Tyr333His)
|
rs2066508508
|
|
NM_001042492.3(NF1):c.997T>G (p.Tyr333Asp)
|
|
|
NM_001042492.3(NF1):c.997del (p.Tyr333fs)
|
rs1567835183
|
|
NM_001042492.3(NF1):c.997dup (p.Tyr333fs)
|
rs1567835183
|
|
NM_001042492.3(NF1):c.998dup (p.Tyr333Ter)
|
rs2066508538
|
|
NM_001042492.3(NF1):c.999C>A (p.Tyr333Ter)
|
rs1466912192
|
|
NM_001042492.3(NF1):c.999C>G (p.Tyr333Ter)
|
rs1466912192
|
|
NM_001042492.3(NF1):c.999C>T (p.Tyr333=)
|
rs1466912192
|
|
NM_001042492.3(NF1):c.999del (p.Thr332_Tyr333insTer)
|
rs2143873634
|
|
NM_001042492.3(NF1):c.99A>G (p.Lys33=)
|
rs786203280
|
|
NM_001042492.3(NF1):c.99del (p.Val34fs)
|
rs1060500320
|
|
NM_001042492.3:c.7317AGC[1]
|
|
|
Single allele
|
|
|