NM_033360.4(KRAS):c.*1759A>G
|
rs4597149
|
0.99474
|
NM_033360.4(KRAS):c.*3907A>G
|
rs8720
|
0.48208
|
NM_033360.4(KRAS):c.*633T>C
|
rs9266
|
0.48177
|
NM_033360.4(KRAS):c.*3498C>T
|
rs1137188
|
0.48161
|
NM_033360.4(KRAS):c.*4022A>C
|
rs12587
|
0.48152
|
NM_033360.4(KRAS):c.*4200T>A
|
rs12245
|
0.48134
|
NM_033360.4(KRAS):c.*3522T>A
|
rs1137189
|
0.48000
|
NM_033360.4(KRAS):c.*3009A>G
|
rs13096
|
0.45974
|
NM_033360.4(KRAS):c.*298T>G
|
rs712
|
0.45514
|
NM_033360.4(KRAS):c.*3881A>C
|
rs1137196
|
0.36455
|
NM_005188.4(CBL):c.*560_*561insAT
|
rs56722042
|
0.24273
|
NM_005188.4(CBL):c.*559_*560insC
|
rs3833768
|
0.24253
|
NM_004985.5(KRAS):c.519T>C (p.Asp173=)
|
rs1137282
|
0.19563
|
NM_033360.4(KRAS):c.*1708T>C
|
rs7973450
|
0.19546
|
NM_033360.4(KRAS):c.*1204A>G
|
rs7960917
|
0.18298
|
NM_033360.4(KRAS):c.*1776C>T
|
rs7973623
|
0.18240
|
NM_033360.4(KRAS):c.*2626T>G
|
rs61764370
|
0.06273
|
NM_033360.4(KRAS):c.*1094G>T
|
rs61763590
|
0.06270
|
NM_002834.5(PTPN11):c.*1006del
|
rs146940557
|
0.05739
|
NM_033360.4(KRAS):c.*2305A>G
|
rs61764368
|
0.04337
|
NM_033360.4(KRAS):c.*4432A>G
|
rs61764374
|
0.03798
|
NM_033360.4(KRAS):c.*3623T>A
|
rs61764372
|
0.02189
|
NM_002880.4(RAF1):c.1755A>G (p.Val585=)
|
rs3730296
|
0.02125
|
NM_005633.4(SOS1):c.*1731A>G
|
rs79270739
|
0.01859
|
NM_002524.4(NRAS):c.-208T>A
|
rs2273267
|
0.01703
|
NM_033360.4(KRAS):c.*1886T>C
|
rs115968671
|
0.01694
|
NM_033360.4(KRAS):c.*3273G>A
|
rs61764371
|
0.01646
|
NM_033360.4(KRAS):c.*945T>C
|
rs61763589
|
0.01587
|
NM_002524.5(NRAS):c.*416A>C
|
rs9724643
|
0.01360
|
NM_002834.5(PTPN11):c.*801C>T
|
rs138246203
|
0.01271
|
NM_152594.3(SPRED1):c.*256C>T
|
rs145373657
|
0.01162
|
NM_152594.3(SPRED1):c.*2885G>A
|
rs79309779
|
0.01137
|
NM_002880.3(RAF1):c.-415-1C>G
|
rs61730434
|
0.01127
|
NM_004333.6(BRAF):c.-19C>T
|
rs71645935
|
0.01115
|
NM_152594.3(SPRED1):c.*3057A>G
|
rs72725362
|
0.01095
|
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp)
|
rs371877084
|
0.01088
|
NM_002834.5(PTPN11):c.525+12G>C
|
rs41304351
|
0.01035
|
NM_033360.4(KRAS):c.*1183G>A
|
rs61763591
|
0.00998
|
NM_001042492.3(NF1):c.2022C>T (p.Ser674=)
|
rs2230851
|
0.00908
|
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu)
|
rs56219475
|
0.00787
|
NM_001042492.3(NF1):c.7322-17C>T
|
rs17884859
|
0.00744
|
NM_002880.4(RAF1):c.1941C>T (p.Val647=)
|
rs3730297
|
0.00729
|
NM_006939.4(SOS2):c.3489+19C>T
|
rs149825446
|
0.00700
|
NM_001042492.3(NF1):c.3496+19T>C
|
rs9890283
|
0.00673
|
NM_005633.4(SOS1):c.*3458A>C
|
rs114232209
|
0.00673
|
NM_005633.4(SOS1):c.1074+5G>C
|
rs145155424
|
0.00655
|
NM_033360.4(KRAS):c.*525T>C
|
rs140080026
|
0.00652
|
NM_002524.5(NRAS):c.-50A>G
|
rs61758211
|
0.00647
|
NM_002834.5(PTPN11):c.*3043C>T
|
rs41307084
|
0.00647
|
NM_002834.5(PTPN11):c.*3006G>A
|
rs141870860
|
0.00646
|
NM_152594.3(SPRED1):c.583-7A>G
|
rs115970207
|
0.00630
|
NM_002880.4(RAF1):c.923C>T (p.Pro308Leu)
|
rs5746220
|
0.00571
|
NM_002524.5(NRAS):c.*3499C>T
|
rs147926293
|
0.00568
|
NM_007373.4(SHOC2):c.1423-7C>T
|
rs180671383
|
0.00563
|
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile)
|
rs34139502
|
0.00561
|
NM_005188.4(CBL):c.*1038del
|
rs555529036
|
0.00550
|
NM_152594.3(SPRED1):c.*3591C>T
|
rs147489619
|
0.00529
|
NM_006767.4(LZTR1):c.201-8C>T
|
rs183476594
|
0.00520
|
NM_005633.4(SOS1):c.2167+6T>G
|
rs186640807
|
0.00510
|
NM_033360.4(KRAS):c.*1758_*1759del
|
rs535478558
|
0.00456
|
NM_033360.4(KRAS):c.*1661T>C
|
rs61764366
|
0.00455
|
NM_005188.4(CBL):c.2710G>A (p.Val904Ile)
|
rs17122769
|
0.00454
|
NM_152594.3(SPRED1):c.*1040G>A
|
rs115568221
|
0.00445
|
NM_033360.4(KRAS):c.*2492C>T
|
rs61764369
|
0.00439
|
NM_001042492.3(NF1):c.2985G>C (p.Leu995=)
|
rs17881467
|
0.00426
|
NM_007373.4(SHOC2):c.1594A>G (p.Ser532Gly)
|
rs145463534
|
0.00423
|
NM_005633.4(SOS1):c.*3569T>C
|
rs115465194
|
0.00421
|
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg)
|
rs72681869
|
0.00421
|
NM_005633.4(SOS1):c.345+15C>T
|
rs75937422
|
0.00407
|
NM_152594.3(SPRED1):c.*2570T>C
|
rs111997668
|
0.00401
|
NM_004333.6(BRAF):c.1383A>G (p.Gln461=)
|
rs56216404
|
0.00399
|
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)
|
rs112306990
|
0.00398
|
NM_006767.4(LZTR1):c.2007C>T (p.Ile669=)
|
rs138664443
|
0.00386
|
NM_001042492.3(NF1):c.-22G>C
|
rs556823296
|
0.00381
|
NM_002524.5(NRAS):c.*3366G>T
|
rs72994440
|
0.00380
|
NM_002524.5(NRAS):c.*3219C>G
|
rs72994441
|
0.00379
|
NM_004333.6(BRAF):c.1141-19C>T
|
rs71645959
|
0.00360
|
NM_002880.4(RAF1):c.*495C>T
|
rs12808
|
0.00354
|
NM_005633.4(SOS1):c.*2983C>T
|
rs190454003
|
0.00352
|
NM_005633.4(SOS1):c.2997T>C (p.Asn999=)
|
rs145364368
|
0.00352
|
NM_152594.3(SPRED1):c.*3623G>T
|
rs148525432
|
0.00348
|
NM_005633.4(SOS1):c.*2517C>T
|
rs150628082
|
0.00321
|
NM_004333.6(BRAF):c.1227A>G (p.Ser409=)
|
rs145035762
|
0.00318
|
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_005633.4(SOS1):c.2673+14T>C
|
rs183998234
|
0.00304
|
NM_002880.4(RAF1):c.*160C>T
|
rs5746246
|
0.00295
|
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr)
|
rs140811086
|
0.00280
|
NM_005633.4(SOS1):c.*2160C>T
|
rs116651056
|
0.00276
|
NM_001042492.3(NF1):c.655-29T>C
|
rs182325576
|
0.00240
|
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=)
|
rs17886566
|
0.00238
|
NM_152594.3(SPRED1):c.*3561G>A
|
rs181980647
|
0.00234
|
NM_005633.4(SOS1):c.570C>T (p.Asp190=)
|
rs55980502
|
0.00233
|
NM_002834.5(PTPN11):c.*775G>A
|
rs181946923
|
0.00230
|
NM_005633.4(SOS1):c.3081+13A>G
|
rs189695571
|
0.00223
|
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp)
|
rs144383241
|
0.00222
|
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe)
|
rs145891889
|
0.00220
|
NM_006495.4(EVI2B):c.1019C>G (p.Pro340Arg)
|
rs17884293
|
0.00215
|
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val)
|
rs147327414
|
0.00195
|
NM_002834.5(PTPN11):c.*2078G>A
|
rs144513512
|
0.00193
|
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu)
|
rs2230850
|
0.00189
|
NM_030662.4(MAP2K2):c.580+6G>A
|
rs201435249
|
0.00183
|
NM_001042492.3(NF1):c.8161-45A>C
|
rs17879551
|
0.00176
|
NM_002709.3(PPP1CB):c.53-9G>A
|
rs368197884
|
0.00172
|
NM_001042492.3(NF1):c.*582T>G
|
rs532984264
|
0.00169
|
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser)
|
rs8192671
|
0.00164
|
NM_005633.4(SOS1):c.2988G>A (p.Pro996=)
|
rs35462677
|
0.00156
|
NM_001042492.3(NF1):c.846G>A (p.Gln282=)
|
rs138840528
|
0.00149
|
NM_002524.5(NRAS):c.*2517A>G
|
rs554048037
|
0.00142
|
NM_006270.5(RRAS):c.568G>C (p.Val190Leu)
|
rs2230917
|
0.00128
|
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=)
|
rs55865524
|
0.00127
|
NM_001042492.3(NF1):c.4577+11C>G
|
rs190614908
|
0.00124
|
NM_002524.5(NRAS):c.*3306A>G
|
rs189738278
|
0.00124
|
NM_001042492.3(NF1):c.1810T>C (p.Leu604=)
|
rs142712751
|
0.00123
|
NM_002524.5(NRAS):c.225C>T (p.Gly75=)
|
rs142739534
|
0.00123
|
NM_005343.4(HRAS):c.357C>T (p.Asp119=)
|
rs111352454
|
0.00121
|
NM_006270.5(RRAS):c.362A>G (p.Lys121Arg)
|
rs138124318
|
0.00121
|
NM_005633.4(SOS1):c.*3592C>T
|
rs550315455
|
0.00113
|
NM_152594.3(SPRED1):c.*4372A>G
|
rs187788660
|
0.00113
|
NM_002880.4(RAF1):c.*110T>C
|
rs550188508
|
0.00112
|
NM_006270.5(RRAS):c.379C>T (p.Leu127=)
|
rs145907892
|
0.00111
|
NM_005633.4(SOS1):c.*3367G>A
|
rs145904123
|
0.00108
|
NM_006270.5(RRAS):c.145T>C (p.Phe49Leu)
|
rs151014532
|
0.00107
|
NM_002755.4(MAP2K1):c.1137C>T (p.Ile379=)
|
rs150841154
|
0.00103
|
NM_033360.4(KRAS):c.5-18A>G
|
rs200189105
|
0.00100
|
NM_002834.5(PTPN11):c.526-17T>C
|
rs375184329
|
0.00096
|
NM_152594.3(SPRED1):c.675C>T (p.Ser225=)
|
rs144764225
|
0.00092
|
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=)
|
rs138186428
|
0.00089
|
NM_001042492.3(NF1):c.8114-70A>T
|
rs192112633
|
0.00088
|
NM_152594.3(SPRED1):c.-191C>T
|
rs556907443
|
0.00088
|
NM_002880.4(RAF1):c.581+4A>G
|
rs201776526
|
0.00087
|
NM_005188.3(CBL):c.-157A>G
|
rs527849757
|
0.00087
|
NM_006270.5(RRAS):c.573-12G>A
|
rs201690554
|
0.00086
|
NM_005633.4(SOS1):c.2238T>C (p.Asn746=)
|
rs75877625
|
0.00084
|
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=)
|
rs147955381
|
0.00083
|
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe)
|
rs137961578
|
0.00083
|
NM_005633.4(SOS1):c.73C>T (p.Pro25Ser)
|
rs139592595
|
0.00082
|
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=)
|
rs150015024
|
0.00079
|
NM_152594.3(SPRED1):c.702C>G (p.Ile234Met)
|
rs138553244
|
0.00074
|
NM_030662.4(MAP2K2):c.603C>T (p.Leu201=)
|
rs148291450
|
0.00072
|
NM_006939.4(SOS2):c.3614C>T (p.Pro1205Leu)
|
rs113660113
|
0.00071
|
NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser)
|
rs142307980
|
0.00070
|
NM_152594.3(SPRED1):c.939G>A (p.Thr313=)
|
rs140644874
|
0.00070
|
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val)
|
rs148154172
|
0.00066
|
NM_004333.6(BRAF):c.981-20C>T
|
rs374896031
|
0.00066
|
NM_005633.4(SOS1):c.3391+7A>G
|
rs201982464
|
0.00066
|
NM_030662.4(MAP2K2):c.1093-6T>C
|
rs369681843
|
0.00065
|
NM_005633.4(SOS1):c.*44T>C
|
rs182657531
|
0.00060
|
NM_001042492.3(NF1):c.7410T>C (p.Asn2470=)
|
rs17881903
|
0.00059
|
NM_006270.5(RRAS):c.154-4C>G
|
rs372925843
|
0.00057
|
NM_006270.5(RRAS):c.174C>T (p.Tyr58=)
|
rs145282813
|
0.00055
|
NM_002755.4(MAP2K1):c.69C>T (p.Thr23=)
|
rs140749690
|
0.00054
|
NM_005633.4(SOS1):c.749T>C (p.Val250Ala)
|
rs139290271
|
0.00054
|
NM_001042492.3(NF1):c.*2566C>T
|
rs545937364
|
0.00053
|
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile)
|
rs142004123
|
0.00053
|
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=)
|
rs149924365
|
0.00052
|
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)
|
rs148176616
|
0.00048
|
NM_005188.4(CBL):c.1227+4C>T
|
rs201747825
|
0.00048
|
NM_002834.5(PTPN11):c.1379+20C>T
|
rs184743462
|
0.00047
|
NM_006939.4(SOS2):c.1071A>G (p.Gln357=)
|
rs111961549
|
0.00046
|
NM_006939.4(SOS2):c.3250A>G (p.Thr1084Ala)
|
rs150752193
|
0.00045
|
NM_007373.4(SHOC2):c.*1062dup
|
rs530047047
|
0.00045
|
NM_004333.6(BRAF):c.2127+3A>G
|
rs371976102
|
0.00043
|
NM_002524.5(NRAS):c.290+7G>A
|
rs375788140
|
0.00042
|
NM_006939.4(SOS2):c.2162-10C>T
|
rs375702667
|
0.00042
|
NM_152594.3(SPRED1):c.30C>A (p.Asn10Lys)
|
rs201692618
|
0.00042
|
NM_006939.4(SOS2):c.2317G>C (p.Asp773His)
|
rs114711076
|
0.00041
|
NM_006939.4(SOS2):c.3744G>T (p.Trp1248Cys)
|
rs138133010
|
0.00041
|
NM_006939.4(SOS2):c.3830T>C (p.Leu1277Pro)
|
rs146802994
|
0.00041
|
NM_006939.4(SOS2):c.969+20T>G
|
rs559272877
|
0.00041
|
NM_006939.4(SOS2):c.1521G>T (p.Glu507Asp)
|
rs141604342
|
0.00040
|
NM_005633.4(SOS1):c.*1085A>G
|
rs539192287
|
0.00039
|
NM_006939.4(SOS2):c.3503C>A (p.Ser1168Tyr)
|
rs143166880
|
0.00038
|
NM_001042492.3(NF1):c.731-6A>C
|
rs369366499
|
0.00037
|
NM_007373.4(SHOC2):c.*506_*509del
|
rs371679867
|
0.00037
|
NM_152594.3(SPRED1):c.*633A>G
|
rs118146919
|
0.00037
|
NM_005188.4(CBL):c.12C>T (p.Asn4=)
|
rs371567712
|
0.00036
|
NM_005188.4(CBL):c.2363G>A (p.Arg788Gln)
|
rs150811339
|
0.00036
|
NM_030662.4(MAP2K2):c.581-10C>T
|
rs200400944
|
0.00036
|
NM_002834.5(PTPN11):c.*838G>A
|
rs142648640
|
0.00035
|
NM_005188.4(CBL):c.1942A>C (p.Ser648Arg)
|
rs143264567
|
0.00035
|
NM_001042492.3(NF1):c.2850+17T>C
|
rs1410636379
|
0.00034
|
NM_002524.5(NRAS):c.360G>A (p.Leu120=)
|
rs143020946
|
0.00034
|
NM_006939.4(SOS2):c.2854G>A (p.Asp952Asn)
|
rs200387871
|
0.00034
|
NM_030662.4(MAP2K2):c.1140C>T (p.Ala380=)
|
rs146618055
|
0.00034
|
NM_002834.5(PTPN11):c.*1805C>T
|
rs188162577
|
0.00033
|
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_002880.4(RAF1):c.321-14T>A
|
rs3730270
|
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_005188.4(CBL):c.1287C>T (p.Ile429=)
|
rs148368481
|
0.00031
|
NM_006939.4(SOS2):c.2640A>G (p.Ser880=)
|
rs146730136
|
0.00031
|
NM_030662.4(MAP2K2):c.1191C>T (p.Arg397=)
|
rs148592592
|
0.00031
|
NM_002834.5(PTPN11):c.643-6dup
|
rs758889732
|
0.00030
|
NM_004333.6(BRAF):c.2235A>G (p.Leu745=)
|
rs56046546
|
0.00030
|
NM_030662.4(MAP2K2):c.303+12G>A
|
rs376432107
|
0.00030
|
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu)
|
rs143502927
|
0.00029
|
NM_001042492.3(NF1):c.7322-16A>G
|
rs369168102
|
0.00029
|
NM_002524.5(NRAS):c.*2464A>G
|
rs140878667
|
0.00029
|
NM_002755.4(MAP2K1):c.1068+19G>A
|
rs188235318
|
0.00029
|
NM_002755.4(MAP2K1):c.848C>T (p.Ala283Val)
|
rs144080051
|
0.00029
|
NM_002834.5(PTPN11):c.48A>G (p.Ala16=)
|
rs372736227
|
0.00029
|
NM_002880.4(RAF1):c.212A>G (p.Asn71Ser)
|
rs184022679
|
0.00029
|
NM_006270.5(RRAS):c.345-4G>A
|
rs377672475
|
0.00029
|
NM_006939.4(SOS2):c.3952C>T (p.Pro1318Ser)
|
rs140995728
|
0.00029
|
NM_030662.4(MAP2K2):c.525C>T (p.Ile175=)
|
rs150833333
|
0.00029
|
NM_152594.3(SPRED1):c.944C>T (p.Pro315Leu)
|
rs115440602
|
0.00029
|
NM_002834.5(PTPN11):c.932T>C (p.Met311Thr)
|
rs201226824
|
0.00028
|
NM_006270.5(RRAS):c.454-9T>C
|
rs1490597941
|
0.00027
|
NM_006939.4(SOS2):c.294A>G (p.Lys98=)
|
rs149713664
|
0.00027
|
NM_001042492.3(NF1):c.7554C>G (p.Ala2518=)
|
rs141897690
|
0.00026
|
NM_002834.5(PTPN11):c.333-3T>C
|
rs146749153
|
0.00026
|
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val)
|
rs201787206
|
0.00026
|
NM_005633.4(SOS1):c.698A>G (p.Asn233Ser)
|
rs144934321
|
0.00026
|
NM_030662.4(MAP2K2):c.678C>T (p.Ser226=)
|
rs200874968
|
0.00026
|
NM_152594.3(SPRED1):c.377-10A>G
|
rs376134678
|
0.00026
|
NM_001042492.3(NF1):c.61-19T>C
|
rs185325140
|
0.00025
|
NM_002524.5(NRAS):c.112-8A>G
|
rs9724626
|
0.00025
|
NM_002755.4(MAP2K1):c.6C>T (p.Pro2=)
|
rs377720622
|
0.00025
|
NM_002880.4(RAF1):c.909A>C (p.Thr303=)
|
rs5746219
|
0.00025
|
NM_004985.5(KRAS):c.24A>G (p.Val8=)
|
rs147406419
|
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_002755.4(MAP2K1):c.1068+9A>G
|
rs368800650
|
0.00024
|
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=)
|
rs148656020
|
0.00024
|
NM_004333.6(BRAF):c.-5A>G
|
rs71645936
|
0.00024
|
NM_030662.4(MAP2K2):c.1194C>T (p.Thr398=)
|
rs144850779
|
0.00024
|
NM_006270.5(RRAS):c.345-19C>G
|
rs369700575
|
0.00023
|
NM_002524.5(NRAS):c.*583T>G
|
rs555171083
|
0.00022
|
NM_006939.4(SOS2):c.3075+19C>T
|
rs200459376
|
0.00022
|
NM_001042492.3(NF1):c.5269-9A>G
|
rs544515671
|
0.00021
|
NM_002524.5(NRAS):c.*2784T>A
|
rs374889066
|
0.00021
|
NM_002880.4(RAF1):c.124G>A (p.Ala42Thr)
|
rs200856000
|
0.00021
|
NM_002880.4(RAF1):c.125C>T (p.Ala42Val)
|
rs11549992
|
0.00021
|
NM_005633.4(SOS1):c.*1552T>A
|
rs139679723
|
0.00021
|
NM_007373.4(SHOC2):c.335T>C (p.Ile112Thr)
|
rs201289608
|
0.00021
|
NM_030662.4(MAP2K2):c.450+17C>T
|
rs199892711
|
0.00021
|
NM_152594.3(SPRED1):c.886T>C (p.Cys296Arg)
|
rs554327738
|
0.00021
|
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=)
|
rs142636150
|
0.00020
|
NM_006939.4(SOS2):c.2712A>G (p.Glu904=)
|
rs143332839
|
0.00020
|
NM_006939.4(SOS2):c.3769A>G (p.Asn1257Asp)
|
rs150393358
|
0.00020
|
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=)
|
rs144091165
|
0.00019
|
NM_005188.4(CBL):c.2588A>G (p.Asn863Ser)
|
rs146250423
|
0.00019
|
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr)
|
rs138272051
|
0.00019
|
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val)
|
rs200786705
|
0.00019
|
NM_006939.4(SOS2):c.2010A>G (p.Ala670=)
|
rs147081547
|
0.00019
|
NM_001042492.3(NF1):c.3672G>A (p.Ala1224=)
|
rs151293900
|
0.00018
|
NM_005633.4(SOS1):c.1489C>A (p.Arg497=)
|
rs542368621
|
0.00018
|
NM_005633.4(SOS1):c.87+15G>C
|
rs375493196
|
0.00018
|
NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser)
|
rs142863840
|
0.00018
|
NM_006939.4(SOS2):c.3076-17A>T
|
rs200184350
|
0.00018
|
NM_030662.4(MAP2K2):c.919+10G>A
|
rs780890887
|
0.00018
|
NM_004333.6(BRAF):c.240+18A>G
|
rs368584855
|
0.00017
|
NM_005188.4(CBL):c.33C>T (p.Ala11=)
|
rs760968593
|
0.00017
|
NM_005633.4(SOS1):c.3286T>A (p.Ser1096Thr)
|
rs376722127
|
0.00017
|
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile)
|
rs147204964
|
0.00017
|
NM_002880.4(RAF1):c.119G>A (p.Arg40His)
|
rs192632236
|
0.00016
|
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln)
|
rs145611571
|
0.00016
|
NM_002880.4(RAF1):c.576A>G (p.Gln192=)
|
rs148759910
|
0.00016
|
NM_004333.6(BRAF):c.1860+16A>G
|
rs368859030
|
0.00016
|
NM_004333.6(BRAF):c.483G>C (p.Leu161=)
|
rs61730029
|
0.00016
|
NM_004985.5(KRAS):c.198A>G (p.Ala66=)
|
rs200229810
|
0.00016
|
NM_005633.4(SOS1):c.109A>G (p.Thr37Ala)
|
rs150565592
|
0.00016
|
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala)
|
rs371408734
|
0.00016
|
NM_006270.5(RRAS):c.516G>C (p.Ser172=)
|
rs199924228
|
0.00016
|
NM_006939.4(SOS2):c.599A>G (p.Tyr200Cys)
|
rs148595463
|
0.00016
|
NM_152594.3(SPRED1):c.*2018T>G
|
rs188392935
|
0.00016
|
NM_152594.3(SPRED1):c.*2247A>G
|
rs118057877
|
0.00016
|
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_006270.5(RRAS):c.255G>A (p.Ala85=)
|
rs142801791
|
0.00015
|
NM_006270.5(RRAS):c.600G>A (p.Pro200=)
|
rs183538580
|
0.00015
|
NM_006767.4(LZTR1):c.96T>C (p.His32=)
|
rs372440263
|
0.00015
|
NM_006912.6(RIT1):c.237+10C>A
|
rs367785615
|
0.00015
|
NM_006939.4(SOS2):c.2057+19T>A
|
rs544924513
|
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_002880.4(RAF1):c.*556G>A
|
rs187286358
|
0.00014
|
NM_002880.4(RAF1):c.680+6T>C
|
rs371846795
|
0.00014
|
NM_004333.6(BRAF):c.1141-12A>G
|
rs375704079
|
0.00014
|
NM_004985.5(KRAS):c.451-14T>C
|
rs372508498
|
0.00014
|
NM_005188.4(CBL):c.1871T>C (p.Leu624Ser)
|
rs150550899
|
0.00014
|
NM_005188.4(CBL):c.2513G>T (p.Gly838Val)
|
rs144191570
|
0.00014
|
NM_005343.4(HRAS):c.102C>T (p.Pro34=)
|
rs149199691
|
0.00014
|
NM_005633.4(SOS1):c.1962G>A (p.Glu654=)
|
rs144382701
|
0.00014
|
NM_006939.4(SOS2):c.2385-12T>C
|
rs372154027
|
0.00014
|
NM_006939.4(SOS2):c.2786-6T>A
|
rs552609367
|
0.00014
|
NM_030662.3(MAP2K2):c.*8C>T
|
rs377675706
|
0.00014
|
NM_001042492.3(NF1):c.1599C>G (p.Val533=)
|
rs369458366
|
0.00013
|
NM_001042492.3(NF1):c.2002-9G>T
|
rs376197466
|
0.00013
|
NM_001042492.3(NF1):c.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_002755.4(MAP2K1):c.726G>T (p.Val242=)
|
rs373745627
|
0.00013
|
NM_002834.5(PTPN11):c.1746C>T (p.Asn582=)
|
rs397516800
|
0.00013
|
NM_002880.4(RAF1):c.*404G>A
|
rs150460686
|
0.00013
|
NM_004333.6(BRAF):c.723G>A (p.Thr241=)
|
rs369182143
|
0.00013
|
NM_005633.4(SOS1):c.1668A>C (p.Val556=)
|
rs376314461
|
0.00013
|
NM_005633.4(SOS1):c.1953A>G (p.Pro651=)
|
rs141507912
|
0.00013
|
NM_005633.4(SOS1):c.214-10A>G
|
rs371447614
|
0.00013
|
NM_005633.4(SOS1):c.3330G>C (p.Ser1110=)
|
rs146383828
|
0.00013
|
NM_005633.4(SOS1):c.3600C>G (p.Asp1200Glu)
|
rs141594736
|
0.00013
|
NM_005633.4(SOS1):c.3946C>G (p.His1316Asp)
|
rs371024396
|
0.00013
|
NM_006939.4(SOS2):c.195G>A (p.Arg65=)
|
rs1803661
|
0.00013
|
NM_006939.4(SOS2):c.2328A>G (p.Thr776=)
|
rs116162949
|
0.00013
|
NM_030662.4(MAP2K2):c.246C>T (p.Asn82=)
|
rs150942310
|
0.00013
|
NM_030662.4(MAP2K2):c.33G>A (p.Ala11=)
|
rs368233443
|
0.00013
|
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His)
|
rs201562272
|
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_002880.4(RAF1):c.1721A>G (p.Tyr574Cys)
|
rs370242565
|
0.00012
|
NM_004333.6(BRAF):c.968C>T (p.Ser323Leu)
|
rs397516907
|
0.00012
|
NM_005188.4(CBL):c.1459A>G (p.Met487Val)
|
rs17848896
|
0.00012
|
NM_005188.4(CBL):c.2060C>T (p.Pro687Leu)
|
rs146705974
|
0.00012
|
NM_006912.6(RIT1):c.38G>A (p.Ser13Asn)
|
rs145034964
|
0.00012
|
NM_006939.4(SOS2):c.702G>A (p.Leu234=)
|
rs200208472
|
0.00012
|
NM_030662.4(MAP2K2):c.581-8G>A
|
rs369262004
|
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_002524.5(NRAS):c.*2816T>C
|
rs370262800
|
0.00011
|
NM_002755.4(MAP2K1):c.636C>T (p.Ser212=)
|
rs138466751
|
0.00011
|
NM_002834.5(PTPN11):c.1224+15G>A
|
rs373271861
|
0.00011
|
NM_002834.5(PTPN11):c.558G>T (p.Arg186=)
|
rs200920312
|
0.00011
|
NM_002880.4(RAF1):c.1537-13G>A
|
rs369039413
|
0.00011
|
NM_004333.6(BRAF):c.36G>A (p.Ala12=)
|
rs397507454
|
0.00011
|
NM_005188.4(CBL):c.1432-6C>T
|
rs371919794
|
0.00011
|
NM_005188.4(CBL):c.2359C>T (p.Arg787Cys)
|
rs143132980
|
0.00011
|
NM_005188.4(CBL):c.2360G>A (p.Arg787His)
|
rs200220863
|
0.00011
|
NM_005343.4(HRAS):c.330C>T (p.Pro110=)
|
rs200747280
|
0.00011
|
NM_005633.4(SOS1):c.1647A>G (p.Thr549=)
|
rs139683425
|
0.00011
|
NM_005633.4(SOS1):c.3357C>T (p.Thr1119=)
|
rs373319212
|
0.00011
|
NM_006270.5(RRAS):c.81C>T (p.Ser27=)
|
rs375821724
|
0.00011
|
NM_007373.4(SHOC2):c.377C>T (p.Thr126Ile)
|
rs138375593
|
0.00011
|
NM_030662.4(MAP2K2):c.981C>T (p.Asn327=)
|
rs143275018
|
0.00011
|
NM_033360.4(KRAS):c.90C>T (p.Asp30=)
|
rs113623140
|
0.00011
|
NM_152594.3(SPRED1):c.963G>A (p.Lys321=)
|
rs369711772
|
0.00011
|
NM_001042492.3(NF1):c.2541T>C (p.Leu847=)
|
rs147433258
|
0.00010
|
NM_002755.4(MAP2K1):c.439-19C>A
|
rs766207567
|
0.00010
|
NM_002880.4(RAF1):c.935T>C (p.Val312Ala)
|
rs370243307
|
0.00010
|
NM_004333.6(BRAF):c.1632T>C (p.Ile544=)
|
rs149702741
|
0.00010
|
NM_005188.4(CBL):c.2312A>T (p.Asp771Val)
|
rs199788586
|
0.00010
|
NM_005188.4(CBL):c.2542G>A (p.Ala848Thr)
|
rs141710973
|
0.00010
|
NM_005343.4(HRAS):c.177C>T (p.Ala59=)
|
rs730880456
|
0.00010
|
NM_005633.4(SOS1):c.1269C>T (p.Asn423=)
|
rs138459502
|
0.00010
|
NM_005633.4(SOS1):c.1566T>C (p.Asn522=)
|
rs145325119
|
0.00010
|
NM_005633.4(SOS1):c.3418T>A (p.Leu1140Ile)
|
rs375550588
|
0.00010
|
NM_005633.4(SOS1):c.553A>G (p.Ile185Val)
|
rs143962515
|
0.00010
|
NM_006939.4(SOS2):c.3088A>G (p.Thr1030Ala)
|
rs550680554
|
0.00010
|
NM_006939.4(SOS2):c.3289T>C (p.Ser1097Pro)
|
rs141214900
|
0.00010
|
NM_152594.3(SPRED1):c.177T>C (p.Phe59=)
|
rs397517871
|
0.00010
|
NM_001042492.3(NF1):c.2325+16C>G
|
rs371709563
|
0.00009
|
NM_001042492.3(NF1):c.4724+11A>G
|
rs368649260
|
0.00009
|
NM_001042492.3(NF1):c.4836-3T>C
|
rs372460369
|
0.00009
|
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)
|
rs368654378
|
0.00009
|
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=)
|
rs141077224
|
0.00009
|
NM_002834.3(PTPN11):c.-287G>C
|
rs377496292
|
0.00009
|
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=)
|
rs143238917
|
0.00009
|
NM_002834.5(PTPN11):c.1575A>G (p.Leu525=)
|
rs143801479
|
0.00009
|
NM_002834.5(PTPN11):c.486C>T (p.Asp162=)
|
rs397507522
|
0.00009
|
NM_002834.5(PTPN11):c.756+9T>C
|
rs773222704
|
0.00009
|
NM_002880.4(RAF1):c.834+598G>A
|
rs375404697
|
0.00009
|
NM_004333.6(BRAF):c.1993-11T>C
|
rs750297886
|
0.00009
|
NM_004333.6(BRAF):c.2128-17T>C
|
rs769351098
|
0.00009
|
NM_004333.6(BRAF):c.399A>G (p.Ser133=)
|
rs397507463
|
0.00009
|
NM_005188.4(CBL):c.1566T>C (p.Ala522=)
|
rs371065029
|
0.00009
|
NM_005188.4(CBL):c.2223G>A (p.Ala741=)
|
rs202229538
|
0.00009
|
NM_005188.4(CBL):c.2268C>T (p.Ala756=)
|
rs142564074
|
0.00009
|
NM_005188.4(CBL):c.873T>C (p.Tyr291=)
|
rs756526812
|
0.00009
|
NM_005633.4(SOS1):c.214-17T>C
|
rs369722808
|
0.00009
|
NM_005633.4(SOS1):c.2510+19C>G
|
rs375675348
|
0.00009
|
NM_005633.4(SOS1):c.280A>G (p.Ile94Val)
|
rs144757941
|
0.00009
|
NM_005633.4(SOS1):c.3322G>A (p.Asp1108Asn)
|
rs199856844
|
0.00009
|
NM_005633.4(SOS1):c.7G>T (p.Ala3Ser)
|
rs533757634
|
0.00009
|
NM_006270.5(RRAS):c.540C>T (p.Asp180=)
|
rs781054110
|
0.00009
|
NM_006912.6(RIT1):c.634C>T (p.Arg212Trp)
|
rs563231684
|
0.00009
|
NM_006939.4(SOS2):c.1934+11T>C
|
rs375487320
|
0.00009
|
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser)
|
rs561495878
|
0.00009
|
NM_006939.4(SOS2):c.3066A>G (p.Pro1022=)
|
rs201696354
|
0.00009
|
NM_006939.4(SOS2):c.3235A>G (p.Thr1079Ala)
|
rs61755576
|
0.00009
|
NM_006939.4(SOS2):c.721G>A (p.Glu241Lys)
|
rs148747022
|
0.00009
|
NM_006939.4(SOS2):c.88-10T>C
|
rs777771034
|
0.00009
|
NM_030662.4(MAP2K2):c.580+14C>T
|
rs544557960
|
0.00009
|
NM_030662.4(MAP2K2):c.894G>A (p.Pro298=)
|
rs374526051
|
0.00009
|
NM_030662.4(MAP2K2):c.919+4C>T
|
rs763424788
|
0.00009
|
NM_152594.3(SPRED1):c.1192G>A (p.Asp398Asn)
|
rs771480941
|
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_002524.5(NRAS):c.*2327C>T
|
rs533027827
|
0.00008
|
NM_002834.5(PTPN11):c.1362G>A (p.Pro454=)
|
rs771967829
|
0.00008
|
NM_002834.5(PTPN11):c.1740T>C (p.Tyr580=)
|
rs139188627
|
0.00008
|
NM_002880.4(RAF1):c.297C>T (p.Phe99=)
|
rs376509458
|
0.00008
|
NM_004333.6(BRAF):c.375T>G (p.Ser125=)
|
rs201507202
|
0.00008
|
NM_005188.4(CBL):c.1356C>T (p.Ser452=)
|
rs150443504
|
0.00008
|
NM_005188.4(CBL):c.2349C>T (p.Ala783=)
|
rs552509693
|
0.00008
|
NM_005188.4(CBL):c.2569C>T (p.Leu857Phe)
|
rs201631570
|
0.00008
|
NM_005633.4(SOS1):c.*4221C>T
|
rs565544523
|
0.00008
|
NM_005633.4(SOS1):c.2010G>C (p.Leu670Phe)
|
rs200712930
|
0.00008
|
NM_005633.4(SOS1):c.976-20T>A
|
rs757641423
|
0.00008
|
NM_006270.5(RRAS):c.344+17G>A
|
rs761080520
|
0.00008
|
NM_006939.4(SOS2):c.1935-13C>G
|
rs764835554
|
0.00008
|
NM_006939.4(SOS2):c.2120A>G (p.Glu707Gly)
|
rs369462490
|
0.00008
|
NM_006939.4(SOS2):c.2154T>C (p.Ser718=)
|
rs568511771
|
0.00008
|
NM_006939.4(SOS2):c.3729C>T (p.His1243=)
|
rs761917783
|
0.00008
|
NM_006939.4(SOS2):c.510+14G>T
|
rs897218126
|
0.00008
|
NM_030662.4(MAP2K2):c.258C>A (p.Val86=)
|
rs148437150
|
0.00008
|
NM_030662.4(MAP2K2):c.399C>T (p.Phe133=)
|
rs145524962
|
0.00008
|
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn)
|
rs150369301
|
0.00008
|
NM_030662.4(MAP2K2):c.939G>T (p.Arg313=)
|
rs397517417
|
0.00008
|
NM_033360.4(KRAS):c.5-11A>G
|
rs369047577
|
0.00008
|
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_002755.4(MAP2K1):c.1068+18G>A
|
rs369137482
|
0.00007
|
NM_002755.4(MAP2K1):c.292-3C>T
|
rs55694358
|
0.00007
|
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)
|
rs397516797
|
0.00007
|
NM_002880.4(RAF1):c.1515T>C (p.Pro505=)
|
rs140668986
|
0.00007
|
NM_002880.4(RAF1):c.357G>A (p.Ala119=)
|
rs146709846
|
0.00007
|
NM_002880.4(RAF1):c.365T>C (p.Ile122Thr)
|
rs730881000
|
0.00007
|
NM_004333.6(BRAF):c.1694+13C>T
|
rs368578780
|
0.00007
|
NM_005188.4(CBL):c.1443G>T (p.Pro481=)
|
rs768111719
|
0.00007
|
NM_005188.4(CBL):c.2126G>A (p.Arg709Gln)
|
rs770667508
|
0.00007
|
NM_005188.4(CBL):c.951A>G (p.Thr317=)
|
rs34851541
|
0.00007
|
NM_005633.4(SOS1):c.1829T>C (p.Ile610Thr)
|
rs776146535
|
0.00007
|
NM_005633.4(SOS1):c.1854C>T (p.Tyr618=)
|
rs727505181
|
0.00007
|
NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu)
|
rs730881034
|
0.00007
|
NM_005633.4(SOS1):c.3729C>G (p.Asp1243Glu)
|
rs730881026
|
0.00007
|
NM_006939.4(SOS2):c.3337+20C>T
|
rs759267073
|
0.00007
|
NM_006939.4(SOS2):c.627A>G (p.Glu209=)
|
rs771839900
|
0.00007
|
NM_007373.4(SHOC2):c.363G>A (p.Glu121=)
|
rs115713408
|
0.00007
|
NM_030662.4(MAP2K2):c.450+12C>T
|
rs750513646
|
0.00007
|
NM_030662.4(MAP2K2):c.529-14G>A
|
rs756414078
|
0.00007
|
NM_030662.4(MAP2K2):c.825G>A (p.Leu275=)
|
rs587781027
|
0.00007
|
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.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.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_002524.5(NRAS):c.36T>G (p.Gly12=)
|
rs759764705
|
0.00006
|
NM_002755.4(MAP2K1):c.264G>A (p.Lys88=)
|
rs7494832
|
0.00006
|
NM_002755.4(MAP2K1):c.396G>A (p.Ala132=)
|
rs139364105
|
0.00006
|
NM_002755.4(MAP2K1):c.569-19T>A
|
rs371099866
|
0.00006
|
NM_002834.5(PTPN11):c.132C>T (p.Ser44=)
|
rs397507502
|
0.00006
|
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg)
|
rs397516805
|
0.00006
|
NM_002834.5(PTPN11):c.426C>T (p.Ser142=)
|
rs199498784
|
0.00006
|
NM_002834.5(PTPN11):c.616T>C (p.Leu206=)
|
rs78376169
|
0.00006
|
NM_002834.5(PTPN11):c.853+17C>T
|
rs746692191
|
0.00006
|
NM_002834.5(PTPN11):c.854-18G>C
|
rs753683974
|
0.00006
|
NM_002880.4(RAF1):c.1371-15C>A
|
rs371491379
|
0.00006
|
NM_002880.4(RAF1):c.1536+14C>G
|
rs895399130
|
0.00006
|
NM_002880.4(RAF1):c.66T>G (p.Phe22Leu)
|
rs397516824
|
0.00006
|
NM_004333.6(BRAF):c.1084C>A (p.Arg362=)
|
rs397516885
|
0.00006
|
NM_004333.6(BRAF):c.1433-5T>C
|
rs587780861
|
0.00006
|
NM_004333.6(BRAF):c.504+19C>T
|
rs780617193
|
0.00006
|
NM_004333.6(BRAF):c.505-12A>G
|
rs377433501
|
0.00006
|
NM_004333.6(BRAF):c.608+14G>A
|
rs752604323
|
0.00006
|
NM_004333.6(BRAF):c.92C>G (p.Ala31Gly)
|
rs397516906
|
0.00006
|
NM_005188.4(CBL):c.1008-18G>A
|
rs764185548
|
0.00006
|
NM_005188.4(CBL):c.1423G>A (p.Gly475Ser)
|
rs764599897
|
0.00006
|
NM_005188.4(CBL):c.1753C>T (p.Arg585Cys)
|
rs187952822
|
0.00006
|
NM_005188.4(CBL):c.2216C>T (p.Ser739Phe)
|
rs2227986
|
0.00006
|
NM_005188.4(CBL):c.2721G>A (p.Ter907=)
|
rs937827423
|
0.00006
|
NM_005188.4(CBL):c.60G>T (p.Ser20=)
|
rs758583427
|
0.00006
|
NM_005188.4(CBL):c.6C>G (p.Ala2=)
|
rs770473070
|
0.00006
|
NM_005188.4(CBL):c.869+10A>G
|
rs768380727
|
0.00006
|
NM_005343.4(HRAS):c.42G>A (p.Val14=)
|
rs777038147
|
0.00006
|
NM_005633.4(SOS1):c.*1516G>A
|
rs550823381
|
0.00006
|
NM_005633.4(SOS1):c.1018C>T (p.Pro340Ser)
|
rs190222208
|
0.00006
|
NM_005633.4(SOS1):c.2225T>C (p.Ile742Thr)
|
rs767494615
|
0.00006
|
NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala)
|
rs553805862
|
0.00006
|
NM_005633.4(SOS1):c.720+9C>T
|
rs370687707
|
0.00006
|
NM_005633.4(SOS1):c.929G>A (p.Arg310His)
|
rs143481916
|
0.00006
|
NM_006270.5(RRAS):c.229G>A (p.Ala77Thr)
|
rs200611081
|
0.00006
|
NM_006912.6(RIT1):c.106+15C>T
|
rs755316223
|
0.00006
|
NM_006939.4(SOS2):c.1198G>A (p.Asp400Asn)
|
rs200368064
|
0.00006
|
NM_006939.4(SOS2):c.2700C>T (p.Asp900=)
|
rs369410641
|
0.00006
|
NM_006939.4(SOS2):c.2959-16A>G
|
rs147830734
|
0.00006
|
NM_006939.4(SOS2):c.504G>A (p.Ala168=)
|
rs199898102
|
0.00006
|
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln)
|
rs780580623
|
0.00006
|
NM_006939.4(SOS2):c.720C>T (p.Ile240=)
|
rs373852615
|
0.00006
|
NM_007373.4(SHOC2):c.1239G>T (p.Gln413His)
|
rs200215822
|
0.00006
|
NM_030662.4(MAP2K2):c.423G>A (p.Gly141=)
|
rs140136082
|
0.00006
|
NM_030662.4(MAP2K2):c.450+20G>A
|
rs374143146
|
0.00006
|
NM_030662.4(MAP2K2):c.450+9G>A
|
rs375368051
|
0.00006
|
NM_030662.4(MAP2K2):c.451-7C>T
|
rs780396876
|
0.00006
|
NM_030662.4(MAP2K2):c.903C>T (p.Pro301=)
|
rs560316877
|
0.00006
|
NM_033360.4(KRAS):c.4+5G>A
|
rs201789109
|
0.00006
|
NM_152594.3(SPRED1):c.*4697G>A
|
rs188784206
|
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.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_002755.4(MAP2K1):c.729G>A (p.Gln243=)
|
rs772752167
|
0.00005
|
NM_002755.4(MAP2K1):c.957C>T (p.Asn319=)
|
rs143019052
|
0.00005
|
NM_002834.5(PTPN11):c.990A>C (p.Thr330=)
|
rs369739920
|
0.00005
|
NM_002880.4(RAF1):c.1194-9C>T
|
rs200322423
|
0.00005
|
NM_002880.4(RAF1):c.1272C>T (p.Cys424=)
|
rs142942142
|
0.00005
|
NM_004333.6(BRAF):c.1992+8T>C
|
rs753545284
|
0.00005
|
NM_004333.6(BRAF):c.1993-13T>C
|
rs775808846
|
0.00005
|
NM_004333.6(BRAF):c.2196C>G (p.Ser732=)
|
rs142592480
|
0.00005
|
NM_005188.4(CBL):c.1432-10T>C
|
rs369724825
|
0.00005
|
NM_005188.4(CBL):c.1528C>G (p.Pro510Ala)
|
rs538054260
|
0.00005
|
NM_005188.4(CBL):c.1647C>A (p.Asp549Glu)
|
rs369030902
|
0.00005
|
NM_005188.4(CBL):c.1723A>G (p.Arg575Gly)
|
rs374515645
|
0.00005
|
NM_005188.4(CBL):c.2482C>T (p.Pro828Ser)
|
rs371026706
|
0.00005
|
NM_005343.4(HRAS):c.397C>T (p.Leu133Phe)
|
rs776888712
|
0.00005
|
NM_005633.4(SOS1):c.2312T>C (p.Ile771Thr)
|
rs557328600
|
0.00005
|
NM_005633.4(SOS1):c.3387C>T (p.Gly1129=)
|
rs772823827
|
0.00005
|
NM_005633.4(SOS1):c.587C>T (p.Ser196Leu)
|
rs199898869
|
0.00005
|
NM_005633.4(SOS1):c.864+12A>C
|
rs374379005
|
0.00005
|
NM_006270.5(RRAS):c.495C>T (p.His165=)
|
rs765681955
|
0.00005
|
NM_006270.5(RRAS):c.645C>T (p.Cys215=)
|
rs149038492
|
0.00005
|
NM_006939.4(SOS2):c.2058-16C>T
|
rs577436233
|
0.00005
|
NM_006939.4(SOS2):c.2955G>A (p.Met985Ile)
|
rs367670036
|
0.00005
|
NM_006939.4(SOS2):c.3644C>G (p.Thr1215Ser)
|
rs773877975
|
0.00005
|
NM_006939.4(SOS2):c.458G>A (p.Arg153Gln)
|
rs779591050
|
0.00005
|
NM_007373.4(SHOC2):c.613A>G (p.Thr205Ala)
|
rs768411950
|
0.00005
|
NM_030662.4(MAP2K2):c.1198G>A (p.Val400Met)
|
rs533247725
|
0.00005
|
NM_030662.4(MAP2K2):c.690G>A (p.Thr230=)
|
rs201287884
|
0.00005
|
NM_152594.3(SPRED1):c.1176G>A (p.Ser392=)
|
rs755223172
|
0.00005
|
NM_152594.3(SPRED1):c.685-8T>C
|
rs760690837
|
0.00005
|
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.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.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.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.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.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_002524.5(NRAS):c.291-8G>A
|
rs376187980
|
0.00004
|
NM_002524.5(NRAS):c.411C>T (p.Tyr137=)
|
rs368813470
|
0.00004
|
NM_002755.4(MAP2K1):c.1038C>T (p.Pro346=)
|
rs547178339
|
0.00004
|
NM_002755.4(MAP2K1):c.1123C>A (p.Leu375Ile)
|
rs752538915
|
0.00004
|
NM_002755.4(MAP2K1):c.198C>T (p.Asp66=)
|
rs56200325
|
0.00004
|
NM_002755.4(MAP2K1):c.291+20C>T
|
rs756056132
|
0.00004
|
NM_002755.4(MAP2K1):c.439-8G>A
|
rs747709090
|
0.00004
|
NM_002755.4(MAP2K1):c.81-20T>G
|
rs373883835
|
0.00004
|
NM_002834.5(PTPN11):c.1143C>T (p.Gly381=)
|
rs781677115
|
0.00004
|
NM_002834.5(PTPN11):c.1278C>T (p.His426=)
|
rs886038519
|
0.00004
|
NM_002834.5(PTPN11):c.14+11C>A
|
rs1486505121
|
0.00004
|
NM_002834.5(PTPN11):c.1683G>A (p.Pro561=)
|
rs397516798
|
0.00004
|
NM_002834.5(PTPN11):c.332+18G>T
|
rs1015260760
|
0.00004
|
NM_002834.5(PTPN11):c.854-19T>G
|
rs751780145
|
0.00004
|
NM_002880.4(RAF1):c.118C>T (p.Arg40Cys)
|
rs772390935
|
0.00004
|
NM_002880.4(RAF1):c.1194-16C>T
|
rs754344039
|
0.00004
|
NM_002880.4(RAF1):c.1371-11T>G
|
rs755003139
|
0.00004
|
NM_002880.4(RAF1):c.435G>A (p.Thr145=)
|
rs371565419
|
0.00004
|
NM_002880.4(RAF1):c.570C>T (p.Ile190=)
|
rs780912024
|
0.00004
|
NM_002880.4(RAF1):c.835-9C>G
|
rs200112870
|
0.00004
|
NM_002880.4(RAF1):c.853A>G (p.Ser285Gly)
|
rs150054973
|
0.00004
|
NM_002880.4(RAF1):c.863-16T>C
|
rs770891566
|
0.00004
|
NM_002880.4(RAF1):c.870T>C (p.Pro290=)
|
rs781125305
|
0.00004
|
NM_002880.4(RAF1):c.990+15C>T
|
rs373980711
|
0.00004
|
NM_004333.6(BRAF):c.1150A>G (p.Arg384Gly)
|
rs545495379
|
0.00004
|
NM_004333.6(BRAF):c.1993-9T>G
|
rs971451154
|
0.00004
|
NM_004333.6(BRAF):c.915G>A (p.Ala305=)
|
rs145675911
|
0.00004
|
NM_004985.5(KRAS):c.451-5652C>T
|
rs727505314
|
0.00004
|
NM_005188.4(CBL):c.1140A>G (p.Leu380=)
|
rs370331997
|
0.00004
|
NM_005188.4(CBL):c.1228-10T>G
|
rs754477196
|
0.00004
|
NM_005188.4(CBL):c.1357C>T (p.Pro453Ser)
|
rs748055961
|
0.00004
|
NM_005188.4(CBL):c.1360A>G (p.Asn454Asp)
|
rs371850672
|
0.00004
|
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe)
|
rs730880434
|
0.00004
|
NM_005188.4(CBL):c.1564-18T>C
|
rs754540533
|
0.00004
|
NM_005188.4(CBL):c.1638G>A (p.Pro546=)
|
rs375702554
|
0.00004
|
NM_005188.4(CBL):c.1911C>T (p.Leu637=)
|
rs552760421
|
0.00004
|
NM_005188.4(CBL):c.1942-17T>C
|
rs907111206
|
0.00004
|
NM_005188.4(CBL):c.2024C>G (p.Ser675Cys)
|
rs553979171
|
0.00004
|
NM_005188.4(CBL):c.2073A>G (p.Gln691=)
|
rs140298671
|
0.00004
|
NM_005188.4(CBL):c.2083G>A (p.Glu695Lys)
|
rs143975631
|
0.00004
|
NM_005188.4(CBL):c.2206A>G (p.Asn736Asp)
|
rs397507497
|
0.00004
|
NM_005188.4(CBL):c.2486G>A (p.Arg829Gln)
|
rs374672276
|
0.00004
|
NM_005188.4(CBL):c.711G>A (p.Ser237=)
|
rs146662327
|
0.00004
|
NM_005188.4(CBL):c.819G>A (p.Thr273=)
|
rs750907780
|
0.00004
|
NM_005188.4(CBL):c.837T>C (p.Ala279=)
|
rs140250592
|
0.00004
|
NM_005343.4(HRAS):c.249C>T (p.Ala83=)
|
rs111372582
|
0.00004
|
NM_005343.4(HRAS):c.258C>T (p.Asn86=)
|
rs765849763
|
0.00004
|
NM_005343.4(HRAS):c.309G>A (p.Val103=)
|
rs575789207
|
0.00004
|
NM_005343.4(HRAS):c.363T>C (p.Ala121=)
|
rs146440188
|
0.00004
|
NM_005343.4(HRAS):c.36C>T (p.Gly12=)
|
rs727504424
|
0.00004
|
NM_005343.4(HRAS):c.460G>A (p.Asp154Asn)
|
rs745497215
|
0.00004
|
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser)
|
rs397517144
|
0.00004
|
NM_005343.4(HRAS):c.534C>G (p.Gly178=)
|
rs770431635
|
0.00004
|
NM_005633.4(SOS1):c.1095A>G (p.Glu365=)
|
rs767540464
|
0.00004
|
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln)
|
rs371314838
|
0.00004
|
NM_005633.4(SOS1):c.1621T>C (p.Leu541=)
|
rs371286473
|
0.00004
|
NM_005633.4(SOS1):c.1720G>A (p.Val574Ile)
|
rs727504641
|
0.00004
|
NM_005633.4(SOS1):c.1842G>A (p.Thr614=)
|
rs143750479
|
0.00004
|
NM_005633.4(SOS1):c.1905C>T (p.Cys635=)
|
rs762900789
|
0.00004
|
NM_005633.4(SOS1):c.2156G>C (p.Gly719Ala)
|
rs200794965
|
0.00004
|
NM_005633.4(SOS1):c.2511-8dup
|
rs754764762
|
0.00004
|
NM_005633.4(SOS1):c.382G>A (p.Val128Ile)
|
rs752402979
|
0.00004
|
NM_005633.4(SOS1):c.3859A>G (p.Ile1287Val)
|
rs760917490
|
0.00004
|
NM_005633.4(SOS1):c.3942C>T (p.His1314=)
|
rs778838515
|
0.00004
|
NM_006270.5(RRAS):c.154-5G>A
|
rs753238136
|
0.00004
|
NM_006270.5(RRAS):c.324C>T (p.Phe108=)
|
rs578092373
|
0.00004
|
NM_006270.5(RRAS):c.543G>A (p.Glu181=)
|
rs370876982
|
0.00004
|
NM_006912.6(RIT1):c.231T>C (p.Ala77=)
|
rs144170253
|
0.00004
|
NM_006912.6(RIT1):c.291C>A (p.Ile97=)
|
rs377326705
|
0.00004
|
NM_006939.4(SOS2):c.1281C>T (p.Ile427=)
|
rs8010578
|
0.00004
|
NM_006939.4(SOS2):c.147A>G (p.Glu49=)
|
rs1030329651
|
0.00004
|
NM_006939.4(SOS2):c.1584T>C (p.Ser528=)
|
rs374642561
|
0.00004
|
NM_006939.4(SOS2):c.1976T>C (p.Leu659Ser)
|
rs1391029692
|
0.00004
|
NM_006939.4(SOS2):c.2162-16T>C
|
rs764585497
|
0.00004
|
NM_006939.4(SOS2):c.2220A>C (p.Gln740His)
|
rs576277421
|
0.00004
|
NM_006939.4(SOS2):c.2261G>A (p.Ser754Asn)
|
rs181275468
|
0.00004
|
NM_006939.4(SOS2):c.2275A>G (p.Ile759Val)
|
rs956839910
|
0.00004
|
NM_006939.4(SOS2):c.2388A>G (p.Lys796=)
|
rs1884441136
|
0.00004
|
NM_006939.4(SOS2):c.2668-5T>C
|
rs1045852656
|
0.00004
|
NM_006939.4(SOS2):c.2969A>G (p.Glu990Gly)
|
rs761320331
|
0.00004
|
NM_006939.4(SOS2):c.3673G>C (p.Glu1225Gln)
|
rs769329817
|
0.00004
|
NM_006939.4(SOS2):c.3788C>G (p.Pro1263Arg)
|
rs569343105
|
0.00004
|
NM_006939.4(SOS2):c.3902A>G (p.His1301Arg)
|
rs759124324
|
0.00004
|
NM_006939.4(SOS2):c.3960C>T (p.Tyr1320=)
|
rs766057658
|
0.00004
|
NM_006939.4(SOS2):c.532C>G (p.Gln178Glu)
|
rs770603835
|
0.00004
|
NM_006939.4(SOS2):c.644G>A (p.Arg215Gln)
|
rs538341032
|
0.00004
|
NM_006939.4(SOS2):c.837C>T (p.Ser279=)
|
rs542617984
|
0.00004
|
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg)
|
rs397517231
|
0.00004
|
NM_007373.4(SHOC2):c.1423-15T>C
|
rs775689426
|
0.00004
|
NM_007373.4(SHOC2):c.1541-10T>G
|
rs202207809
|
0.00004
|
NM_007373.4(SHOC2):c.1545A>G (p.Thr515=)
|
rs376161380
|
0.00004
|
NM_007373.4(SHOC2):c.1731A>G (p.Pro577=)
|
rs370929606
|
0.00004
|
NM_007373.4(SHOC2):c.972+11G>T
|
rs201644470
|
0.00004
|
NM_007373.4(SHOC2):c.972+8G>C
|
rs748386843
|
0.00004
|
NM_030662.4(MAP2K2):c.1005C>T (p.Asn335=)
|
rs587781028
|
0.00004
|
NM_030662.4(MAP2K2):c.1092+15C>T
|
rs777596226
|
0.00004
|
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met)
|
rs117945277
|
0.00004
|
NM_030662.4(MAP2K2):c.240G>A (p.Ala80=)
|
rs543217722
|
0.00004
|
NM_030662.4(MAP2K2):c.274A>G (p.Arg92Gly)
|
rs759061964
|
0.00004
|
NM_030662.4(MAP2K2):c.451-19C>A
|
rs754710131
|
0.00004
|
NM_030662.4(MAP2K2):c.456C>T (p.Gly152=)
|
rs143106439
|
0.00004
|
NM_030662.4(MAP2K2):c.528+19C>T
|
rs769390409
|
0.00004
|
NM_030662.4(MAP2K2):c.648C>T (p.Ser216=)
|
rs147276536
|
0.00004
|
NM_030662.4(MAP2K2):c.93-6C>T
|
rs727504836
|
0.00004
|
NM_033360.4(KRAS):c.112-10C>T
|
rs760989619
|
0.00004
|
NM_033360.4(KRAS):c.93A>G (p.Glu31=)
|
rs377354475
|
0.00004
|
NM_152594.3(SPRED1):c.1260C>T (p.Tyr420=)
|
rs202087411
|
0.00004
|
NM_152594.3(SPRED1):c.424-5A>G
|
rs752656697
|
0.00004
|
NM_152594.3(SPRED1):c.438T>C (p.Asp146=)
|
rs757357920
|
0.00004
|
NM_152594.3(SPRED1):c.594T>C (p.Gly198=)
|
rs756643495
|
0.00004
|
NM_152594.3(SPRED1):c.634G>A (p.Val212Ile)
|
rs769630742
|
0.00004
|
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.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.2181A>G (p.Ser727=)
|
rs1203116843
|
0.00003
|
NM_001042492.3(NF1):c.2409+17G>C
|
rs373870002
|
0.00003
|
NM_001042492.3(NF1):c.2916A>C (p.Leu972=)
|
rs1210119104
|
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.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.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.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_002524.5(NRAS):c.553C>T (p.Pro185Ser)
|
rs374061873
|
0.00003
|
NM_002755.4(MAP2K1):c.1022+12C>T
|
rs753580791
|
0.00003
|
NM_002755.4(MAP2K1):c.1023-20C>T
|
rs200542677
|
0.00003
|
NM_002755.4(MAP2K1):c.156C>T (p.Ala52=)
|
rs147489724
|
0.00003
|
NM_002755.4(MAP2K1):c.177G>A (p.Lys59=)
|
rs773928828
|
0.00003
|
NM_002755.4(MAP2K1):c.276G>C (p.Leu92=)
|
rs377323150
|
0.00003
|
NM_002755.4(MAP2K1):c.569-18A>G
|
rs886539818
|
0.00003
|
NM_002755.4(MAP2K1):c.693+10G>A
|
rs377034924
|
0.00003
|
NM_002755.4(MAP2K1):c.771G>A (p.Ala257=)
|
rs767965126
|
0.00003
|
NM_002755.4(MAP2K1):c.80+9G>A
|
rs1219385230
|
0.00003
|
NM_002834.5(PTPN11):c.*3381A>G
|
rs374962107
|
0.00003
|
NM_002834.5(PTPN11):c.1092+9C>T
|
rs374768093
|
0.00003
|
NM_002834.5(PTPN11):c.1174G>A (p.Ala392Thr)
|
rs774356443
|
0.00003
|
NM_002834.5(PTPN11):c.138-4T>G
|
rs959868124
|
0.00003
|
NM_002834.5(PTPN11):c.1404G>C (p.Thr468=)
|
rs587781130
|
0.00003
|
NM_002834.5(PTPN11):c.540C>T (p.Asp180=)
|
rs753269427
|
0.00003
|
NM_002834.5(PTPN11):c.879C>T (p.His293=)
|
rs117730996
|
0.00003
|
NM_002880.4(RAF1):c.1108+15C>T
|
rs727503383
|
0.00003
|
NM_002880.4(RAF1):c.1109-17G>C
|
rs770431112
|
0.00003
|
NM_002880.4(RAF1):c.1422A>C (p.Ile474=)
|
rs773666695
|
0.00003
|
NM_002880.4(RAF1):c.1821G>A (p.Glu607=)
|
rs747437834
|
0.00003
|
NM_002880.4(RAF1):c.1929G>A (p.Pro643=)
|
rs142051431
|
0.00003
|
NM_002880.4(RAF1):c.592A>T (p.Asn198Tyr)
|
rs1208112942
|
0.00003
|
NM_002880.4(RAF1):c.600T>C (p.Thr200=)
|
rs779808613
|
0.00003
|
NM_002880.4(RAF1):c.609T>C (p.Asp203=)
|
rs778185496
|
0.00003
|
NM_002880.4(RAF1):c.63G>A (p.Val21=)
|
rs377377296
|
0.00003
|
NM_002880.4(RAF1):c.81C>T (p.Cys27=)
|
rs774401401
|
0.00003
|
NM_004333.6(BRAF):c.1140+7A>G
|
rs1269596675
|
0.00003
|
NM_004333.6(BRAF):c.114T>C (p.Ala38=)
|
rs779587891
|
0.00003
|
NM_004333.6(BRAF):c.1314+17T>C
|
rs1057524397
|
0.00003
|
NM_004333.6(BRAF):c.1517+13G>A
|
rs572300688
|
0.00003
|
NM_004333.6(BRAF):c.2128-10_2128-9insC
|
rs758588300
|
0.00003
|
NM_004333.6(BRAF):c.2128-15T>C
|
rs763538892
|
0.00003
|
NM_004333.6(BRAF):c.2128-20T>C
|
rs1280793787
|
0.00003
|
NM_004333.6(BRAF):c.2136C>T (p.Ala712=)
|
rs377165711
|
0.00003
|
NM_004333.6(BRAF):c.240+11G>A
|
rs730880379
|
0.00003
|
NM_004333.6(BRAF):c.608+18C>T
|
rs764984248
|
0.00003
|
NM_004333.6(BRAF):c.622A>G (p.Ile208Val)
|
rs727504571
|
0.00003
|
NM_004985.5(KRAS):c.112-14T>G
|
rs1374246336
|
0.00003
|
NM_005188.4(CBL):c.1353C>T (p.Pro451=)
|
rs201616881
|
0.00003
|
NM_005188.4(CBL):c.1495C>A (p.Arg499=)
|
rs778927765
|
0.00003
|
NM_005188.4(CBL):c.1512G>A (p.Pro504=)
|
rs758285751
|
0.00003
|
NM_005188.4(CBL):c.1920G>A (p.Thr640=)
|
rs202158626
|
0.00003
|
NM_005188.4(CBL):c.2666A>G (p.Lys889Arg)
|
rs1369884955
|
0.00003
|
NM_005188.4(CBL):c.2691C>T (p.Ser897=)
|
rs762560254
|
0.00003
|
NM_005188.4(CBL):c.516A>G (p.Gly172=)
|
rs765968487
|
0.00003
|
NM_005188.4(CBL):c.869+15G>A
|
rs761328610
|
0.00003
|
NM_005343.4(HRAS):c.153C>T (p.Cys51=)
|
rs759482455
|
0.00003
|
NM_005343.4(HRAS):c.282C>T (p.His94=)
|
rs375893752
|
0.00003
|
NM_005343.4(HRAS):c.291-13T>G
|
rs755995550
|
0.00003
|
NM_005343.4(HRAS):c.291-8C>T
|
rs1057522962
|
0.00003
|
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser)
|
rs397517142
|
0.00003
|
NM_005343.4(HRAS):c.54G>A (p.Ala18=)
|
rs148380285
|
0.00003
|
NM_005343.4(HRAS):c.57G>C (p.Leu19=)
|
rs761648389
|
0.00003
|
NM_005633.4(SOS1):c.162A>G (p.Gln54=)
|
rs763520126
|
0.00003
|
NM_005633.4(SOS1):c.1672A>G (p.Met558Val)
|
rs371295853
|
0.00003
|
NM_005633.4(SOS1):c.2063+7A>G
|
rs1431540653
|
0.00003
|
NM_005633.4(SOS1):c.2616T>G (p.Leu872=)
|
rs768058218
|
0.00003
|
NM_005633.4(SOS1):c.3697C>A (p.Leu1233Ile)
|
rs777373438
|
0.00003
|
NM_005633.4(SOS1):c.3802G>A (p.Gly1268Ser)
|
rs730881051
|
0.00003
|
NM_005633.4(SOS1):c.66A>G (p.Leu22=)
|
rs770539511
|
0.00003
|
NM_005633.4(SOS1):c.720+15A>G
|
rs377752996
|
0.00003
|
NM_005633.4(SOS1):c.88-7T>A
|
rs1416502603
|
0.00003
|
NM_005633.4(SOS1):c.9G>A (p.Ala3=)
|
rs566601513
|
0.00003
|
NM_006270.5(RRAS):c.241+9G>A
|
rs750643775
|
0.00003
|
NM_006270.5(RRAS):c.291C>T (p.Tyr97=)
|
rs780638908
|
0.00003
|
NM_006270.5(RRAS):c.573-13C>T
|
rs372538436
|
0.00003
|
NM_006270.5(RRAS):c.573-19C>G
|
rs377060262
|
0.00003
|
NM_006767.4(LZTR1):c.1402C>T (p.Arg468Cys)
|
rs374741798
|
0.00003
|
NM_006767.4(LZTR1):c.2394C>T (p.His798=)
|
rs770445427
|
0.00003
|
NM_006912.6(RIT1):c.45C>G (p.Pro15=)
|
rs748838734
|
0.00003
|
NM_006912.6(RIT1):c.498A>C (p.Ala166=)
|
rs375734733
|
0.00003
|
NM_006939.4(SOS2):c.1005T>C (p.Tyr335=)
|
rs753698896
|
0.00003
|
NM_006939.4(SOS2):c.1069-10T>C
|
rs201686942
|
0.00003
|
NM_006939.4(SOS2):c.1264G>A (p.Glu422Lys)
|
rs375244948
|
0.00003
|
NM_006939.4(SOS2):c.1356T>C (p.Gly452=)
|
rs746956553
|
0.00003
|
NM_006939.4(SOS2):c.1852+18C>G
|
rs768521644
|
0.00003
|
NM_006939.4(SOS2):c.2604C>T (p.Gly868=)
|
rs765945171
|
0.00003
|
NM_006939.4(SOS2):c.2978A>T (p.Asn993Ile)
|
rs776000121
|
0.00003
|
NM_006939.4(SOS2):c.3380-15C>G
|
rs748112343
|
0.00003
|
NM_006939.4(SOS2):c.3490-14C>T
|
rs200796041
|
0.00003
|
NM_006939.4(SOS2):c.3606T>C (p.Ser1202=)
|
rs539432390
|
0.00003
|
NM_006939.4(SOS2):c.3981T>C (p.Asn1327=)
|
rs527576404
|
0.00003
|
NM_006939.4(SOS2):c.540C>T (p.Asp180=)
|
rs189555369
|
0.00003
|
NM_006939.4(SOS2):c.63A>G (p.Gly21=)
|
rs761849560
|
0.00003
|
NM_006939.4(SOS2):c.927C>T (p.Phe309=)
|
rs1308740864
|
0.00003
|
NM_007373.4(SHOC2):c.849G>A (p.Leu283=)
|
rs200544176
|
0.00003
|
NM_030662.4(MAP2K2):c.1065G>A (p.Ala355=)
|
rs374807671
|
0.00003
|
NM_030662.4(MAP2K2):c.1176C>T (p.Pro392=)
|
rs529064753
|
0.00003
|
NM_030662.4(MAP2K2):c.1182A>G (p.Thr394=)
|
rs375253105
|
0.00003
|
NM_030662.4(MAP2K2):c.304-7C>T
|
rs561127903
|
0.00003
|
NM_030662.4(MAP2K2):c.477G>A (p.Leu159=)
|
rs748135585
|
0.00003
|
NM_030662.4(MAP2K2):c.534C>G (p.Leu178=)
|
rs765573431
|
0.00003
|
NM_030662.4(MAP2K2):c.581-5T>C
|
rs757662989
|
0.00003
|
NM_030662.4(MAP2K2):c.581-9C>T
|
rs539611844
|
0.00003
|
NM_030662.4(MAP2K2):c.696C>T (p.Ser232=)
|
rs761539527
|
0.00003
|
NM_030662.4(MAP2K2):c.705+10C>T
|
rs372898071
|
0.00003
|
NM_030662.4(MAP2K2):c.818A>G (p.Lys273Arg)
|
rs539555837
|
0.00003
|
NM_152594.3(SPRED1):c.163T>C (p.Cys55Arg)
|
rs775334473
|
0.00003
|
NM_152594.3(SPRED1):c.306G>A (p.Thr102=)
|
rs372791883
|
0.00003
|
NM_152594.3(SPRED1):c.583-9G>T
|
rs1421813002
|
0.00003
|
NM_152594.3(SPRED1):c.685-10T>G
|
rs1325841398
|
0.00003
|
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.1392+14C>T
|
rs1185092258
|
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.2023G>A (p.Gly675Arg)
|
rs779546178
|
0.00002
|
NM_001042492.3(NF1):c.2224G>T (p.Ala742Ser)
|
rs587781896
|
0.00002
|
NM_001042492.3(NF1):c.2294G>A (p.Arg765His)
|
rs199474777
|
0.00002
|
NM_001042492.3(NF1):c.2547A>C (p.Gly849=)
|
rs748303121
|
0.00002
|
NM_001042492.3(NF1):c.2556C>T (p.Leu852=)
|
rs771308677
|
0.00002
|
NM_001042492.3(NF1):c.264T>C (p.Asp88=)
|
rs1359209770
|
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.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.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.4110+4T>C
|
rs587781700
|
0.00002
|
NM_001042492.3(NF1):c.42C>T (p.Val14=)
|
rs755413799
|
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.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.48C>T (p.Arg16=)
|
rs1315327163
|
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.5426C>T (p.Pro1809Leu)
|
rs587782220
|
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.587-20A>T
|
rs776533188
|
0.00002
|
NM_001042492.3(NF1):c.5955A>G (p.Glu1985=)
|
rs369043956
|
0.00002
|
NM_001042492.3(NF1):c.60+15G>A
|
rs756930099
|
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.6851C>T (p.Thr2284Ile)
|
rs747881072
|
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.7615+7T>C
|
rs779078444
|
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.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.889-20G>A
|
rs765690267
|
0.00002
|
NM_002524.5(NRAS):c.111+18C>G
|
rs756947288
|
0.00002
|
NM_002524.5(NRAS):c.300T>A (p.Ile100=)
|
rs575693594
|
0.00002
|
NM_002524.5(NRAS):c.393C>T (p.His131=)
|
rs745954671
|
0.00002
|
NM_002755.4(MAP2K1):c.1005A>G (p.Gln335=)
|
rs1057520833
|
0.00002
|
NM_002755.4(MAP2K1):c.1068+17C>T
|
rs566984700
|
0.00002
|
NM_002755.4(MAP2K1):c.1069-12C>A
|
rs781412352
|
0.00002
|
NM_002755.4(MAP2K1):c.12G>A (p.Lys4=)
|
rs1489477346
|
0.00002
|
NM_002755.4(MAP2K1):c.147C>A (p.Arg49=)
|
rs756073029
|
0.00002
|
NM_002755.4(MAP2K1):c.279C>T (p.Val93=)
|
rs140387057
|
0.00002
|
NM_002755.4(MAP2K1):c.378C>T (p.Ile126=)
|
rs369401783
|
0.00002
|
NM_002755.4(MAP2K1):c.411C>T (p.Gly137=)
|
rs146415623
|
0.00002
|
NM_002755.4(MAP2K1):c.517-4C>T
|
rs200197244
|
0.00002
|
NM_002755.4(MAP2K1):c.568+11A>T
|
rs769848510
|
0.00002
|
NM_002755.4(MAP2K1):c.900C>T (p.Tyr300=)
|
rs147333830
|
0.00002
|
NM_002834.5(PTPN11):c.1041A>G (p.Gln347=)
|
rs766297596
|
0.00002
|
NM_002834.5(PTPN11):c.1551G>A (p.Ala517=)
|
rs727504377
|
0.00002
|
NM_002834.5(PTPN11):c.327T>G (p.Ser109=)
|
rs1039250039
|
0.00002
|
NM_002834.5(PTPN11):c.768A>G (p.Gln256=)
|
rs775232682
|
0.00002
|
NM_002834.5(PTPN11):c.793C>A (p.Arg265=)
|
rs766531368
|
0.00002
|
NM_002880.4(RAF1):c.1113T>C (p.Asp371=)
|
rs146668293
|
0.00002
|
NM_002880.4(RAF1):c.1193+17C>T
|
rs753928357
|
0.00002
|
NM_002880.4(RAF1):c.1239A>G (p.Thr413=)
|
rs890823225
|
0.00002
|
NM_002880.4(RAF1):c.1371-5C>A
|
rs1235301663
|
0.00002
|
NM_002880.4(RAF1):c.1431T>C (p.His477=)
|
rs770034641
|
0.00002
|
NM_002880.4(RAF1):c.1608C>T (p.Ile536=)
|
rs542779722
|
0.00002
|
NM_002880.4(RAF1):c.1668+4A>G
|
rs771344560
|
0.00002
|
NM_002880.4(RAF1):c.1857C>T (p.Ser619=)
|
rs754017289
|
0.00002
|
NM_002880.4(RAF1):c.293T>C (p.Val98Ala)
|
rs763559779
|
0.00002
|
NM_002880.4(RAF1):c.639T>C (p.Thr213=)
|
rs397516823
|
0.00002
|
NM_002880.4(RAF1):c.873A>G (p.Ser291=)
|
rs139135606
|
0.00002
|
NM_002880.4(RAF1):c.917C>T (p.Ser306Leu)
|
rs886041231
|
0.00002
|
NM_002880.4(RAF1):c.934G>A (p.Val312Met)
|
rs555034652
|
0.00002
|
NM_002880.4(RAF1):c.945A>G (p.Gln315=)
|
rs1451849309
|
0.00002
|
NM_002880.4(RAF1):c.990+14A>G
|
rs187924091
|
0.00002
|
NM_004333.6(BRAF):c.*7T>C
|
rs727502903
|
0.00002
|
NM_004333.6(BRAF):c.1023A>G (p.Pro341=)
|
rs56092510
|
0.00002
|
NM_004333.6(BRAF):c.138+17C>G
|
rs756400234
|
0.00002
|
NM_004333.6(BRAF):c.1401A>G (p.Ser467=)
|
rs776001588
|
0.00002
|
NM_004333.6(BRAF):c.1433-18G>A
|
rs763267814
|
0.00002
|
NM_004333.6(BRAF):c.1518-7T>C
|
rs199745091
|
0.00002
|
NM_004333.6(BRAF):c.1518-9T>G
|
rs758498850
|
0.00002
|
NM_004333.6(BRAF):c.357C>T (p.Thr119=)
|
rs552456345
|
0.00002
|
NM_005188.4(CBL):c.1031A>G (p.Asn344Ser)
|
rs370489946
|
0.00002
|
NM_005188.4(CBL):c.1830A>G (p.Thr610=)
|
rs756758516
|
0.00002
|
NM_005188.4(CBL):c.1927C>T (p.Leu643=)
|
rs139939244
|
0.00002
|
NM_005188.4(CBL):c.1941+17A>T
|
rs752171870
|
0.00002
|
NM_005188.4(CBL):c.1942-4C>T
|
rs776366304
|
0.00002
|
NM_005188.4(CBL):c.195+10C>A
|
rs878854755
|
0.00002
|
NM_005188.4(CBL):c.195+14T>G
|
rs1011872703
|
0.00002
|
NM_005188.4(CBL):c.2199A>G (p.Ala733=)
|
rs1272395484
|
0.00002
|
NM_005188.4(CBL):c.2235C>T (p.Thr745=)
|
rs763880494
|
0.00002
|
NM_005188.4(CBL):c.2435-4C>T
|
rs770832773
|
0.00002
|
NM_005188.4(CBL):c.2535T>C (p.Gly845=)
|
rs778902867
|
0.00002
|
NM_005188.4(CBL):c.801C>G (p.Gly267=)
|
rs727502913
|
0.00002
|
NM_005188.4(CBL):c.825C>T (p.Asp275=)
|
rs751768529
|
0.00002
|
NM_005343.4(HRAS):c.112-19G>A
|
rs755577443
|
0.00002
|
NM_005343.4(HRAS):c.358C>T (p.Leu120=)
|
rs397517139
|
0.00002
|
NM_005343.4(HRAS):c.450+17C>T
|
rs367869009
|
0.00002
|
NM_005343.4(HRAS):c.45C>T (p.Gly15=)
|
rs727504614
|
0.00002
|
NM_005343.4(HRAS):c.84T>C (p.Phe28=)
|
rs915086641
|
0.00002
|
NM_005633.4(SOS1):c.1008A>G (p.Gln336=)
|
rs1320092319
|
0.00002
|
NM_005633.4(SOS1):c.1074+10C>G
|
rs375186076
|
0.00002
|
NM_005633.4(SOS1):c.1097A>T (p.Asp366Val)
|
rs1056080833
|
0.00002
|
NM_005633.4(SOS1):c.1251A>C (p.Leu417=)
|
rs144027132
|
0.00002
|
NM_005633.4(SOS1):c.1772A>G (p.Asn591Ser)
|
rs757213444
|
0.00002
|
NM_005633.4(SOS1):c.2007C>G (p.Pro669=)
|
rs529749913
|
0.00002
|
NM_005633.4(SOS1):c.2277C>T (p.Pro759=)
|
rs773378100
|
0.00002
|
NM_005633.4(SOS1):c.2791+8_2791+10dup
|
rs776058584
|
0.00002
|
NM_005633.4(SOS1):c.3148A>G (p.Met1050Val)
|
rs886041814
|
0.00002
|
NM_005633.4(SOS1):c.3329C>T (p.Ser1110Leu)
|
rs572955351
|
0.00002
|
NM_005633.4(SOS1):c.3347-3C>T
|
rs779326746
|
0.00002
|
NM_005633.4(SOS1):c.3360C>A (p.Val1120=)
|
rs751042920
|
0.00002
|
NM_005633.4(SOS1):c.3384T>C (p.His1128=)
|
rs1412775460
|
0.00002
|
NM_005633.4(SOS1):c.3412A>G (p.Ile1138Val)
|
rs56248239
|
0.00002
|
NM_005633.4(SOS1):c.3592A>G (p.Ile1198Val)
|
rs747534810
|
0.00002
|
NM_005633.4(SOS1):c.3836C>T (p.Thr1279Ile)
|
rs758258471
|
0.00002
|
NM_005633.4(SOS1):c.3956T>C (p.Met1319Thr)
|
rs730881036
|
0.00002
|
NM_005633.4(SOS1):c.396A>T (p.Ala132=)
|
rs727505385
|
0.00002
|
NM_005633.4(SOS1):c.39A>G (p.Glu13=)
|
rs763337946
|
0.00002
|
NM_005633.4(SOS1):c.87+12G>T
|
rs368569135
|
0.00002
|
NM_005633.4(SOS1):c.899G>A (p.Arg300Gln)
|
rs754374236
|
0.00002
|
NM_006270.5(RRAS):c.242-8C>T
|
rs370459010
|
0.00002
|
NM_006270.5(RRAS):c.454-19G>A
|
rs776793181
|
0.00002
|
NM_006270.5(RRAS):c.572+20T>G
|
rs1017127642
|
0.00002
|
NM_006270.5(RRAS):c.94C>T (p.Leu32=)
|
rs764926027
|
0.00002
|
NM_006939.4(SOS2):c.1392C>T (p.Gly464=)
|
rs188355135
|
0.00002
|
NM_006939.4(SOS2):c.156T>A (p.Ile52=)
|
rs1343609817
|
0.00002
|
NM_006939.4(SOS2):c.1669T>C (p.Leu557=)
|
rs370600053
|
0.00002
|
NM_006939.4(SOS2):c.2049A>G (p.Val683=)
|
rs748361433
|
0.00002
|
NM_006939.4(SOS2):c.2115C>T (p.Asp705=)
|
rs761930547
|
0.00002
|
NM_006939.4(SOS2):c.2191A>G (p.Ile731Val)
|
rs746664310
|
0.00002
|
NM_006939.4(SOS2):c.2350C>T (p.Arg784Cys)
|
rs760520078
|
0.00002
|
NM_006939.4(SOS2):c.2541G>A (p.Val847=)
|
rs1884432722
|
0.00002
|
NM_006939.4(SOS2):c.2786-5dup
|
rs768715951
|
0.00002
|
NM_006939.4(SOS2):c.3339C>T (p.Gly1113=)
|
rs756164627
|
0.00002
|
NM_006939.4(SOS2):c.3380-16T>A
|
rs1174938001
|
0.00002
|
NM_006939.4(SOS2):c.3495T>C (p.Asn1165=)
|
rs756887073
|
0.00002
|
NM_006939.4(SOS2):c.3523A>G (p.Ile1175Val)
|
rs774571340
|
0.00002
|
NM_006939.4(SOS2):c.3547C>T (p.Pro1183Ser)
|
rs139401491
|
0.00002
|
NM_006939.4(SOS2):c.3681T>G (p.Phe1227Leu)
|
rs748607274
|
0.00002
|
NM_006939.4(SOS2):c.3735T>G (p.Asp1245Glu)
|
rs752525400
|
0.00002
|
NM_006939.4(SOS2):c.3758G>C (p.Ser1253Thr)
|
rs762593451
|
0.00002
|
NM_006939.4(SOS2):c.430T>C (p.Leu144=)
|
rs746938099
|
0.00002
|
NM_006939.4(SOS2):c.929A>G (p.Asn310Ser)
|
rs746412601
|
0.00002
|
NM_007373.4(SHOC2):c.1164C>T (p.Asp388=)
|
rs544426978
|
0.00002
|
NM_007373.4(SHOC2):c.1452C>G (p.Thr484=)
|
rs774870302
|
0.00002
|
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala)
|
rs730881018
|
0.00002
|
NM_007373.4(SHOC2):c.618T>G (p.Thr206=)
|
rs772520981
|
0.00002
|
NM_030662.4(MAP2K2):c.1046+13G>A
|
rs587781029
|
0.00002
|
NM_030662.4(MAP2K2):c.1093-19G>A
|
rs571595941
|
0.00002
|
NM_030662.4(MAP2K2):c.1159C>T (p.Leu387=)
|
rs1172594212
|
0.00002
|
NM_030662.4(MAP2K2):c.1197C>T (p.Ala399=)
|
rs987393686
|
0.00002
|
NM_030662.4(MAP2K2):c.303+17C>T
|
rs368897563
|
0.00002
|
NM_030662.4(MAP2K2):c.327G>A (p.Pro109=)
|
rs369156025
|
0.00002
|
NM_030662.4(MAP2K2):c.39C>T (p.Thr13=)
|
rs752951050
|
0.00002
|
NM_030662.4(MAP2K2):c.402C>T (p.Tyr134=)
|
rs753713281
|
0.00002
|
NM_030662.4(MAP2K2):c.450+13G>A
|
rs572847821
|
0.00002
|
NM_030662.4(MAP2K2):c.450+14G>A
|
rs397517414
|
0.00002
|
NM_030662.4(MAP2K2):c.459C>A (p.Gly153=)
|
rs746241325
|
0.00002
|
NM_030662.4(MAP2K2):c.474G>A (p.Val158=)
|
rs370736371
|
0.00002
|
NM_030662.4(MAP2K2):c.535C>T (p.Arg179Trp)
|
rs370799450
|
0.00002
|
NM_030662.4(MAP2K2):c.744G>A (p.Ser248=)
|
rs753640401
|
0.00002
|
NM_030662.4(MAP2K2):c.924C>T (p.His308=)
|
rs768099163
|
0.00002
|
NM_033360.4(KRAS):c.*103A>G
|
rs1213931592
|
0.00002
|
NM_033360.4(KRAS):c.*16T>C
|
rs779184057
|
0.00002
|
NM_033360.4(KRAS):c.249C>T (p.Ala83=)
|
rs751117590
|
0.00002
|
NM_152594.3(SPRED1):c.1005C>T (p.Cys335=)
|
rs768937237
|
0.00002
|
NM_152594.3(SPRED1):c.1080A>G (p.Lys360=)
|
rs749654043
|
0.00002
|
NM_152594.3(SPRED1):c.207+11A>T
|
rs755730953
|
0.00002
|
NM_152594.3(SPRED1):c.426A>G (p.Ala142=)
|
rs753701682
|
0.00002
|
NM_152594.3(SPRED1):c.633C>T (p.Tyr211=)
|
rs149991304
|
0.00002
|
NM_152594.3(SPRED1):c.685-17A>G
|
rs1223645192
|
0.00002
|
NM_152594.3(SPRED1):c.687C>A (p.Val229=)
|
rs376226762
|
0.00002
|
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.1089A>G (p.Pro363=)
|
rs757508086
|
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.1248A>T (p.Arg416=)
|
rs1403345664
|
0.00001
|
NM_001042492.3(NF1):c.1263C>T (p.Ser421=)
|
rs767410768
|
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.132C>A (p.Ile44=)
|
rs765778199
|
0.00001
|
NM_001042492.3(NF1):c.1356A>G (p.Gln452=)
|
rs1324833228
|
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.1413A>G (p.Lys471=)
|
rs1309932338
|
0.00001
|
NM_001042492.3(NF1):c.144A>G (p.Lys48=)
|
rs763375105
|
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.1545G>A (p.Gly515=)
|
rs876658203
|
0.00001
|
NM_001042492.3(NF1):c.1587C>T (p.Leu529=)
|
rs786203041
|
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.1722-5T>C
|
rs1458980212
|
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.1875C>T (p.Leu625=)
|
rs974172157
|
0.00001
|
NM_001042492.3(NF1):c.1926A>G (p.Gln642=)
|
rs774806150
|
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.1974C>A (p.Leu658=)
|
rs751318331
|
0.00001
|
NM_001042492.3(NF1):c.1974C>T (p.Leu658=)
|
rs751318331
|
0.00001
|
NM_001042492.3(NF1):c.1995C>T (p.Ser665=)
|
rs1352726800
|
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.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.205-20C>T
|
rs1203386469
|
0.00001
|
NM_001042492.3(NF1):c.2061A>G (p.Leu687=)
|
rs143671377
|
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.2211A>G (p.Thr737=)
|
rs1178560430
|
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.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.234T>C (p.Asn78=)
|
rs876658354
|
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.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.2454C>G (p.Ser818=)
|
rs763634947
|
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.2517C>T (p.Asn839=)
|
rs876659543
|
0.00001
|
NM_001042492.3(NF1):c.2550G>T (p.Val850=)
|
rs772148227
|
0.00001
|
NM_001042492.3(NF1):c.2619T>C (p.Arg873=)
|
rs766212733
|
0.00001
|
NM_001042492.3(NF1):c.2640G>A (p.Val880=)
|
rs786202443
|
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.2712T>C (p.Cys904=)
|
rs372963561
|
0.00001
|
NM_001042492.3(NF1):c.2736A>G (p.Gln912=)
|
rs760097413
|
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.2851-11T>C
|
rs1332945782
|
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.289-12T>C
|
rs1486449114
|
0.00001
|
NM_001042492.3(NF1):c.289-20T>C
|
rs763991276
|
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.294A>G (p.Pro98=)
|
rs1445884708
|
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.3000T>C (p.Arg1000=)
|
rs764332485
|
0.00001
|
NM_001042492.3(NF1):c.3024A>G (p.Ala1008=)
|
rs779490777
|
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.30C>G (p.Val10=)
|
rs1033348008
|
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.3197+17C>T
|
rs751894967
|
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.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.3390G>A (p.Arg1130=)
|
rs999720392
|
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.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.354C>T (p.Cys118=)
|
rs768777585
|
0.00001
|
NM_001042492.3(NF1):c.3564A>G (p.Gln1188=)
|
rs777859444
|
0.00001
|
NM_001042492.3(NF1):c.3601T>C (p.Leu1201=)
|
rs1422595428
|
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.36C>T (p.Ala12=)
|
rs786203866
|
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.3709-7T>C
|
rs1196733035
|
0.00001
|
NM_001042492.3(NF1):c.3709-8G>C
|
rs767650263
|
0.00001
|
NM_001042492.3(NF1):c.3732T>A (p.Val1244=)
|
rs756653022
|
0.00001
|
NM_001042492.3(NF1):c.3822C>T (p.Leu1274=)
|
rs1489818104
|
0.00001
|
NM_001042492.3(NF1):c.3843C>T (p.Ala1281=)
|
rs150426576
|
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.3916C>A (p.Arg1306=)
|
rs376576925
|
0.00001
|
NM_001042492.3(NF1):c.3945A>G (p.Gln1315=)
|
rs1365148212
|
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.3987A>G (p.Ser1329=)
|
rs753270018
|
0.00001
|
NM_001042492.3(NF1):c.4017C>T (p.Leu1339=)
|
rs778993658
|
0.00001
|
NM_001042492.3(NF1):c.4032A>G (p.Glu1344=)
|
rs1555617330
|
0.00001
|
NM_001042492.3(NF1):c.4044T>C (p.His1348=)
|
rs1315375188
|
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.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.4206C>T (p.Ile1402=)
|
rs864622406
|
0.00001
|
NM_001042492.3(NF1):c.4212A>G (p.Ala1404=)
|
rs376825167
|
0.00001
|
NM_001042492.3(NF1):c.4230C>T (p.Phe1410=)
|
rs750213850
|
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.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.4368A>T (p.Thr1456=)
|
rs876659577
|
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.4503C>T (p.Asp1501=)
|
rs577394398
|
0.00001
|
NM_001042492.3(NF1):c.4578-5T>C
|
rs772759508
|
0.00001
|
NM_001042492.3(NF1):c.4593T>C (p.Val1531=)
|
rs773315342
|
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.4671A>G (p.Thr1557=)
|
rs876658990
|
0.00001
|
NM_001042492.3(NF1):c.468C>T (p.Arg156=)
|
rs779074793
|
0.00001
|
NM_001042492.3(NF1):c.4725-13A>G
|
rs759742216
|
0.00001
|
NM_001042492.3(NF1):c.4737T>C (p.His1579=)
|
rs1233883371
|
0.00001
|
NM_001042492.3(NF1):c.479+14T>A
|
rs747431601
|
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.4836G>A (p.Arg1612=)
|
rs1555533268
|
0.00001
|
NM_001042492.3(NF1):c.4860T>C (p.Gly1620=)
|
rs864622747
|
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.4914A>G (p.Pro1638=)
|
rs186482097
|
0.00001
|
NM_001042492.3(NF1):c.4944C>T (p.Thr1648=)
|
rs759291615
|
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.5028A>G (p.Ala1676=)
|
rs778817599
|
0.00001
|
NM_001042492.3(NF1):c.5067C>T (p.Tyr1689=)
|
rs756708811
|
0.00001
|
NM_001042492.3(NF1):c.5098C>T (p.Leu1700Phe)
|
rs775786295
|
0.00001
|
NM_001042492.3(NF1):c.5145G>A (p.Leu1715=)
|
rs762436173
|
0.00001
|
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp)
|
rs773378630
|
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.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.5391C>T (p.Asn1797=)
|
rs1449178444
|
0.00001
|
NM_001042492.3(NF1):c.5407A>G (p.Ile1803Val)
|
rs559910904
|
0.00001
|
NM_001042492.3(NF1):c.5436C>T (p.Phe1812=)
|
rs864622640
|
0.00001
|
NM_001042492.3(NF1):c.5455G>A (p.Ala1819Thr)
|
rs368998534
|
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.5520C>A (p.Pro1840=)
|
rs786201638
|
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.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.5715C>T (p.Thr1905=)
|
rs1060503892
|
0.00001
|
NM_001042492.3(NF1):c.5745G>T (p.Leu1915=)
|
rs1234091349
|
0.00001
|
NM_001042492.3(NF1):c.575G>A (p.Arg192Gln)
|
rs587781670
|
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+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.594A>T (p.Ala198=)
|
rs138411879
|
0.00001
|
NM_001042492.3(NF1):c.5958A>G (p.Lys1986=)
|
rs1216926117
|
0.00001
|
NM_001042492.3(NF1):c.60+10C>T
|
rs1375725102
|
0.00001
|
NM_001042492.3(NF1):c.60+11C>T
|
rs565515877
|
0.00001
|
NM_001042492.3(NF1):c.60+19G>C
|
rs1169591788
|
0.00001
|
NM_001042492.3(NF1):c.60+5C>G
|
rs879413062
|
0.00001
|
NM_001042492.3(NF1):c.60+7G>C
|
rs1060503895
|
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.6007-6A>G
|
rs775960363
|
0.00001
|
NM_001042492.3(NF1):c.6012A>G (p.Thr2004=)
|
rs1232336416
|
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.6189A>G (p.Leu2063=)
|
rs1060503911
|
0.00001
|
NM_001042492.3(NF1):c.6192T>C (p.Ser2064=)
|
rs765094377
|
0.00001
|
NM_001042492.3(NF1):c.6297T>C (p.His2099=)
|
rs751517473
|
0.00001
|
NM_001042492.3(NF1):c.6328T>C (p.Leu2110=)
|
rs780230966
|
0.00001
|
NM_001042492.3(NF1):c.6345G>A (p.Pro2115=)
|
rs779475182
|
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.645C>T (p.Ser215=)
|
rs746163138
|
0.00001
|
NM_001042492.3(NF1):c.6480A>G (p.Lys2160=)
|
rs1060503918
|
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.6665C>T (p.Thr2222Met)
|
rs369803831
|
0.00001
|
NM_001042492.3(NF1):c.6666G>A (p.Thr2222=)
|
rs780247942
|
0.00001
|
NM_001042492.3(NF1):c.6672G>A (p.Lys2224=)
|
rs771835288
|
0.00001
|
NM_001042492.3(NF1):c.6704+19A>G
|
rs761477107
|
0.00001
|
NM_001042492.3(NF1):c.6729C>G (p.Ser2243=)
|
rs1337738132
|
0.00001
|
NM_001042492.3(NF1):c.6783T>C (p.His2261=)
|
rs1311531049
|
0.00001
|
NM_001042492.3(NF1):c.6819+4C>T
|
rs755135948
|
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.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.6922-13T>C
|
rs199901687
|
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.6945C>G (p.Leu2315=)
|
rs751893971
|
0.00001
|
NM_001042492.3(NF1):c.6C>G (p.Ala2=)
|
rs876660128
|
0.00001
|
NM_001042492.3(NF1):c.7005C>T (p.Thr2335=)
|
rs2040793
|
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.7044C>T (p.Leu2348=)
|
rs1350755921
|
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.7086A>C (p.Ala2362=)
|
rs1241296625
|
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.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.7298C>T (p.Thr2433Ile)
|
rs755749772
|
0.00001
|
NM_001042492.3(NF1):c.7305C>T (p.Ser2435=)
|
rs369754180
|
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.7332A>G (p.Thr2444=)
|
rs759005886
|
0.00001
|
NM_001042492.3(NF1):c.7335G>A (p.Val2445=)
|
rs1333741084
|
0.00001
|
NM_001042492.3(NF1):c.7359C>T (p.Cys2453=)
|
rs1555536126
|
0.00001
|
NM_001042492.3(NF1):c.7402A>G (p.Met2468Val)
|
rs151211377
|
0.00001
|
NM_001042492.3(NF1):c.7449T>C (p.Pro2483=)
|
rs878853916
|
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.7503A>G (p.Glu2501=)
|
rs1466552910
|
0.00001
|
NM_001042492.3(NF1):c.7515A>C (p.Ala2505=)
|
rs768857964
|
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.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.7645T>C (p.Ser2549Pro)
|
rs767458044
|
0.00001
|
NM_001042492.3(NF1):c.7647A>G (p.Ser2549=)
|
rs750342324
|
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.7780C>T (p.Arg2594Cys)
|
rs372787215
|
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.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.7887T>C (p.Tyr2629=)
|
rs767860040
|
0.00001
|
NM_001042492.3(NF1):c.7889C>G (p.Thr2630Ser)
|
rs1283946778
|
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.8013G>A (p.Leu2671=)
|
rs769548773
|
0.00001
|
NM_001042492.3(NF1):c.8091A>G (p.Gln2697=)
|
rs760433938
|
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.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.8289T>G (p.Pro2763=)
|
rs1335800376
|
0.00001
|
NM_001042492.3(NF1):c.8298G>A (p.Leu2766=)
|
rs768947696
|
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.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.843C>A (p.Ile281=)
|
rs146094856
|
0.00001
|
NM_001042492.3(NF1):c.8451C>T (p.Ser2817=)
|
rs547090599
|
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.8514C>T (p.Ile2838=)
|
rs1567634589
|
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+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.948G>A (p.Leu316=)
|
rs876658782
|
0.00001
|
NM_001042492.3(NF1):c.969C>T (p.Ala323=)
|
rs786201462
|
0.00001
|
NM_001354689.3(RAF1):c.1200C>T (p.Val400=)
|
rs397516814
|
0.00001
|
NM_002524.5(NRAS):c.*3500G>A
|
rs528970050
|
0.00001
|
NM_002524.5(NRAS):c.112-6C>G
|
rs200604652
|
0.00001
|
NM_002524.5(NRAS):c.273G>A (p.Ala91=)
|
rs1429502684
|
0.00001
|
NM_002524.5(NRAS):c.290+15A>G
|
rs373417606
|
0.00001
|
NM_002524.5(NRAS):c.315C>T (p.Asp105=)
|
rs752000303
|
0.00001
|
NM_002524.5(NRAS):c.318G>A (p.Ser106=)
|
rs373254040
|
0.00001
|
NM_002524.5(NRAS):c.432C>T (p.Thr144=)
|
rs753079400
|
0.00001
|
NM_002524.5(NRAS):c.450+12C>T
|
rs749906475
|
0.00001
|
NM_002524.5(NRAS):c.450+18G>T
|
rs766994734
|
0.00001
|
NM_002524.5(NRAS):c.531G>A (p.Gly177=)
|
rs1430947551
|
0.00001
|
NM_002524.5(NRAS):c.561G>A (p.Val187=)
|
rs1392061627
|
0.00001
|
NM_002524.5(NRAS):c.69A>G (p.Leu23=)
|
rs771113899
|
0.00001
|
NM_002524.5(NRAS):c.87A>G (p.Val29=)
|
rs748537067
|
0.00001
|
NM_002755.4(MAP2K1):c.1022+10C>T
|
rs397516787
|
0.00001
|
NM_002755.4(MAP2K1):c.1022+16G>A
|
rs757073344
|
0.00001
|
NM_002755.4(MAP2K1):c.1069-17C>T
|
rs201274410
|
0.00001
|
NM_002755.4(MAP2K1):c.1098T>C (p.Ala366=)
|
rs200293968
|
0.00001
|
NM_002755.4(MAP2K1):c.234T>C (p.Asn78=)
|
rs1326124619
|
0.00001
|
NM_002755.4(MAP2K1):c.255C>T (p.Val85=)
|
rs1052147663
|
0.00001
|
NM_002755.4(MAP2K1):c.292-8T>A
|
rs966429123
|
0.00001
|
NM_002755.4(MAP2K1):c.322C>T (p.Arg108Trp)
|
rs1298033161
|
0.00001
|
NM_002755.4(MAP2K1):c.366C>T (p.Asn122=)
|
rs990673168
|
0.00001
|
NM_002755.4(MAP2K1):c.372G>A (p.Pro124=)
|
rs750270430
|
0.00001
|
NM_002755.4(MAP2K1):c.39G>A (p.Pro13=)
|
rs876657503
|
0.00001
|
NM_002755.4(MAP2K1):c.405C>T (p.Ser135=)
|
rs767989355
|
0.00001
|
NM_002755.4(MAP2K1):c.439-7A>T
|
rs964442363
|
0.00001
|
NM_002755.4(MAP2K1):c.549G>A (p.Lys183=)
|
rs747352922
|
0.00001
|
NM_002755.4(MAP2K1):c.565A>C (p.Arg189=)
|
rs776763061
|
0.00001
|
NM_002755.4(MAP2K1):c.568+9T>C
|
rs748379069
|
0.00001
|
NM_002755.4(MAP2K1):c.585C>T (p.Asn195=)
|
rs1437805160
|
0.00001
|
NM_002755.4(MAP2K1):c.693+20T>C
|
rs753107656
|
0.00001
|
NM_002755.4(MAP2K1):c.694-20del
|
rs1404899700
|
0.00001
|
NM_002755.4(MAP2K1):c.694-9C>T
|
rs768336682
|
0.00001
|
NM_002755.4(MAP2K1):c.792T>G (p.Pro264=)
|
rs764379969
|
0.00001
|
NM_002755.4(MAP2K1):c.810G>A (p.Glu270=)
|
rs745891583
|
0.00001
|
NM_002755.4(MAP2K1):c.834G>A (p.Gln278=)
|
rs148151221
|
0.00001
|
NM_002755.4(MAP2K1):c.879C>T (p.Pro293=)
|
rs370521459
|
0.00001
|
NM_002755.4(MAP2K1):c.896-7T>C
|
rs772786705
|
0.00001
|
NM_002834.5(PTPN11):c.*329T>C
|
rs576039073
|
0.00001
|
NM_002834.5(PTPN11):c.1011G>A (p.Thr337=)
|
rs371951288
|
0.00001
|
NM_002834.5(PTPN11):c.1023T>C (p.Phe341=)
|
rs762516252
|
0.00001
|
NM_002834.5(PTPN11):c.1028G>A (p.Arg343Gln)
|
rs535800148
|
0.00001
|
NM_002834.5(PTPN11):c.1047C>T (p.Asn349=)
|
rs1222504763
|
0.00001
|
NM_002834.5(PTPN11):c.1131A>C (p.Leu377=)
|
rs370059077
|
0.00001
|
NM_002834.5(PTPN11):c.1161C>T (p.Asn387=)
|
rs727505180
|
0.00001
|
NM_002834.5(PTPN11):c.1173C>T (p.Ser391=)
|
rs770730416
|
0.00001
|
NM_002834.5(PTPN11):c.1176C>T (p.Ala392=)
|
rs759533871
|
0.00001
|
NM_002834.5(PTPN11):c.1218T>C (p.Val406=)
|
rs1402095646
|
0.00001
|
NM_002834.5(PTPN11):c.1225-9C>T
|
rs377257792
|
0.00001
|
NM_002834.5(PTPN11):c.1233G>A (p.Thr411=)
|
rs1325353647
|
0.00001
|
NM_002834.5(PTPN11):c.1311C>T (p.Asp437=)
|
rs757362412
|
0.00001
|
NM_002834.5(PTPN11):c.1380-14C>G
|
rs193922657
|
0.00001
|
NM_002834.5(PTPN11):c.1380-5C>T
|
rs765455455
|
0.00001
|
NM_002834.5(PTPN11):c.1398A>G (p.Thr466=)
|
rs1271133312
|
0.00001
|
NM_002834.5(PTPN11):c.1404G>A (p.Thr468=)
|
rs587781130
|
0.00001
|
NM_002834.5(PTPN11):c.1447+10C>T
|
rs1435448604
|
0.00001
|
NM_002834.5(PTPN11):c.1447+16G>T
|
rs375109762
|
0.00001
|
NM_002834.5(PTPN11):c.1448-4G>A
|
rs574215778
|
0.00001
|
NM_002834.5(PTPN11):c.1467C>T (p.Asp489=)
|
rs539373294
|
0.00001
|
NM_002834.5(PTPN11):c.15-19C>A
|
rs779587904
|
0.00001
|
NM_002834.5(PTPN11):c.1521A>G (p.Thr507=)
|
rs374285143
|
0.00001
|
NM_002834.5(PTPN11):c.1579C>T (p.Arg527Cys)
|
rs191525506
|
0.00001
|
NM_002834.5(PTPN11):c.1600-11C>G
|
rs1472156150
|
0.00001
|
NM_002834.5(PTPN11):c.1620C>T (p.His540=)
|
rs587781132
|
0.00001
|
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=)
|
rs374896287
|
0.00001
|
NM_002834.5(PTPN11):c.1659G>A (p.Thr553=)
|
rs1381707337
|
0.00001
|
NM_002834.5(PTPN11):c.1713-5T>A
|
rs876657964
|
0.00001
|
NM_002834.5(PTPN11):c.376T>C (p.Leu126=)
|
rs146497890
|
0.00001
|
NM_002834.5(PTPN11):c.498A>G (p.Lys166=)
|
rs1007593261
|
0.00001
|
NM_002834.5(PTPN11):c.526-9T>C
|
rs1284214136
|
0.00001
|
NM_002834.5(PTPN11):c.537C>T (p.Tyr179=)
|
rs141015445
|
0.00001
|
NM_002834.5(PTPN11):c.643-7C>T
|
rs1555268066
|
0.00001
|
NM_002834.5(PTPN11):c.643-9C>T
|
rs750520685
|
0.00001
|
NM_002834.5(PTPN11):c.66A>G (p.Thr22=)
|
rs397516808
|
0.00001
|
NM_002834.5(PTPN11):c.757-5T>C
|
rs1442154422
|
0.00001
|
NM_002834.5(PTPN11):c.854-20G>A
|
rs756424880
|
0.00001
|
NM_002834.5(PTPN11):c.874C>T (p.Leu292=)
|
rs930267460
|
0.00001
|
NM_002834.5(PTPN11):c.951G>A (p.Lys317=)
|
rs576405446
|
0.00001
|
NM_002834.5(PTPN11):c.957C>T (p.Asn319=)
|
rs771407775
|
0.00001
|
NM_002834.5(PTPN11):c.996C>T (p.Gly332=)
|
rs397507533
|
0.00001
|
NM_002880.4(RAF1):c.1051C>T (p.Leu351=)
|
rs1478388712
|
0.00001
|
NM_002880.4(RAF1):c.1109-16C>T
|
rs1221078169
|
0.00001
|
NM_002880.4(RAF1):c.1141G>A (p.Asp381Asn)
|
rs559632360
|
0.00001
|
NM_002880.4(RAF1):c.1193+18G>C
|
rs201845942
|
0.00001
|
NM_002880.4(RAF1):c.1247A>G (p.Asn416Ser)
|
rs774198365
|
0.00001
|
NM_002880.4(RAF1):c.1398T>C (p.His466=)
|
rs766561173
|
0.00001
|
NM_002880.4(RAF1):c.144C>T (p.Leu48=)
|
rs1217477812
|
0.00001
|
NM_002880.4(RAF1):c.1458T>C (p.Asp486=)
|
rs768729966
|
0.00001
|
NM_002880.4(RAF1):c.1656C>T (p.Asn552=)
|
rs772194284
|
0.00001
|
NM_002880.4(RAF1):c.1668+14G>C
|
rs1057520886
|
0.00001
|
NM_002880.4(RAF1):c.1668+18C>T
|
rs755924543
|
0.00001
|
NM_002880.4(RAF1):c.1686C>A (p.Gly562=)
|
rs894831042
|
0.00001
|
NM_002880.4(RAF1):c.1689A>G (p.Arg563=)
|
rs1358420019
|
0.00001
|
NM_002880.4(RAF1):c.171T>C (p.Thr57=)
|
rs751571550
|
0.00001
|
NM_002880.4(RAF1):c.1800C>T (p.Pro600=)
|
rs1559398770
|
0.00001
|
NM_002880.4(RAF1):c.1803+15T>G
|
rs778164265
|
0.00001
|
NM_002880.4(RAF1):c.1885G>T (p.Ala629Ser)
|
rs1243841152
|
0.00001
|
NM_002880.4(RAF1):c.1914G>A (p.Thr638=)
|
rs144876026
|
0.00001
|
NM_002880.4(RAF1):c.1923G>A (p.Thr641=)
|
rs148528418
|
0.00001
|
NM_002880.4(RAF1):c.207+18T>C
|
rs571895457
|
0.00001
|
NM_002880.4(RAF1):c.208-4G>A
|
rs751334223
|
0.00001
|
NM_002880.4(RAF1):c.309C>T (p.His103=)
|
rs1057520880
|
0.00001
|
NM_002880.4(RAF1):c.321-4_321-3insG
|
rs1559434366
|
0.00001
|
NM_002880.4(RAF1):c.354T>G (p.Ala118=)
|
rs762000118
|
0.00001
|
NM_002880.4(RAF1):c.391C>T (p.Leu131=)
|
rs878854566
|
0.00001
|
NM_002880.4(RAF1):c.393G>A (p.Leu131=)
|
rs2059136132
|
0.00001
|
NM_002880.4(RAF1):c.423+12A>C
|
rs1055790600
|
0.00001
|
NM_002880.4(RAF1):c.423+16C>G
|
rs375338922
|
0.00001
|
NM_002880.4(RAF1):c.424-6T>C
|
rs983999914
|
0.00001
|
NM_002880.4(RAF1):c.462C>G (p.Ile154Met)
|
rs367732360
|
0.00001
|
NM_002880.4(RAF1):c.468G>A (p.Gln156=)
|
rs764168570
|
0.00001
|
NM_002880.4(RAF1):c.471A>G (p.Lys157=)
|
rs1001494773
|
0.00001
|
NM_002880.4(RAF1):c.477G>T (p.Leu159=)
|
rs760626796
|
0.00001
|
NM_002880.4(RAF1):c.507C>G (p.Gly169=)
|
rs1309333776
|
0.00001
|
NM_002880.4(RAF1):c.513A>G (p.Lys171=)
|
rs561163045
|
0.00001
|
NM_002880.4(RAF1):c.603T>C (p.Ile201=)
|
rs1179333878
|
0.00001
|
NM_002880.4(RAF1):c.606T>G (p.Gly202=)
|
rs754197477
|
0.00001
|
NM_002880.4(RAF1):c.61G>A (p.Val21Met)
|
rs752484962
|
0.00001
|
NM_002880.4(RAF1):c.654A>G (p.Arg218=)
|
rs898490426
|
0.00001
|
NM_002880.4(RAF1):c.680+13C>G
|
rs771908327
|
0.00001
|
NM_002880.4(RAF1):c.708C>T (p.His236=)
|
rs370658857
|
0.00001
|
NM_002880.4(RAF1):c.771G>A (p.Ser257=)
|
rs764065991
|
0.00001
|
NM_002880.4(RAF1):c.834+13C>T
|
rs748478768
|
0.00001
|
NM_002880.4(RAF1):c.835-19C>T
|
rs751165589
|
0.00001
|
NM_002880.4(RAF1):c.855C>T (p.Ser285=)
|
rs763657486
|
0.00001
|
NM_002880.4(RAF1):c.863-8C>T
|
rs1232698947
|
0.00001
|
NM_002880.4(RAF1):c.907A>G (p.Thr303Ala)
|
rs775898894
|
0.00001
|
NM_002880.4(RAF1):c.924G>A (p.Pro308=)
|
rs551674056
|
0.00001
|
NM_002880.4(RAF1):c.928A>G (p.Thr310Ala)
|
rs778155315
|
0.00001
|
NM_002880.4(RAF1):c.933C>T (p.Pro311=)
|
rs1553613022
|
0.00001
|
NM_002880.4(RAF1):c.93A>G (p.Thr31=)
|
rs762478810
|
0.00001
|
NM_002880.4(RAF1):c.990+12C>T
|
rs376360142
|
0.00001
|
NM_002880.4(RAF1):c.990+9A>G
|
rs559532794
|
0.00001
|
NM_002880.4(RAF1):c.99T>G (p.Val33=)
|
rs1245175914
|
0.00001
|
NM_004333.6(BRAF):c.101C>T (p.Ala34Val)
|
rs1424449802
|
0.00001
|
NM_004333.6(BRAF):c.102G>C (p.Ala34=)
|
rs1372257667
|
0.00001
|
NM_004333.6(BRAF):c.1178-10A>G
|
rs527835644
|
0.00001
|
NM_004333.6(BRAF):c.1236C>T (p.Asn412=)
|
rs397516888
|
0.00001
|
NM_004333.6(BRAF):c.1305G>A (p.Arg435=)
|
rs763771673
|
0.00001
|
NM_004333.6(BRAF):c.1314+12T>C
|
rs765090629
|
0.00001
|
NM_004333.6(BRAF):c.1338G>A (p.Ser446=)
|
rs765215499
|
0.00001
|
NM_004333.6(BRAF):c.1347T>C (p.Asp449=)
|
rs397516889
|
0.00001
|
NM_004333.6(BRAF):c.139-9del
|
rs1487772115
|
0.00001
|
NM_004333.6(BRAF):c.1572A>G (p.Gln524=)
|
rs552471935
|
0.00001
|
NM_004333.6(BRAF):c.1602C>T (p.Gly534=)
|
rs761240860
|
0.00001
|
NM_004333.6(BRAF):c.1742-10T>C
|
rs730880411
|
0.00001
|
NM_004333.6(BRAF):c.1797A>G (p.Thr599=)
|
rs1431556127
|
0.00001
|
NM_004333.6(BRAF):c.1818G>A (p.Gly606=)
|
rs1797931923
|
0.00001
|
NM_004333.6(BRAF):c.1848C>A (p.Ser616=)
|
rs752115982
|
0.00001
|
NM_004333.6(BRAF):c.1861-12A>G
|
rs1397986324
|
0.00001
|
NM_004333.6(BRAF):c.193T>C (p.Leu65=)
|
rs866875749
|
0.00001
|
NM_004333.6(BRAF):c.1992+15C>T
|
rs766089848
|
0.00001
|
NM_004333.6(BRAF):c.1993-10C>A
|
rs1034603754
|
0.00001
|
NM_004333.6(BRAF):c.2019C>T (p.Tyr673=)
|
rs759664527
|
0.00001
|
NM_004333.6(BRAF):c.2082A>G (p.Ala694=)
|
rs375174370
|
0.00001
|
NM_004333.6(BRAF):c.2127+7A>G
|
rs371857758
|
0.00001
|
NM_004333.6(BRAF):c.2128-10T>C
|
rs397516898
|
0.00001
|
NM_004333.6(BRAF):c.2160A>G (p.Ser720=)
|
rs915698949
|
0.00001
|
NM_004333.6(BRAF):c.2229T>C (p.Phe743=)
|
rs397516901
|
0.00001
|
NM_004333.6(BRAF):c.258C>A (p.Thr86=)
|
rs760454617
|
0.00001
|
NM_004333.6(BRAF):c.298T>C (p.Leu100=)
|
rs761709697
|
0.00001
|
NM_004333.6(BRAF):c.315C>T (p.Asn105=)
|
rs768536776
|
0.00001
|
NM_004333.6(BRAF):c.459A>G (p.Gln153=)
|
rs1476241098
|
0.00001
|
NM_004333.6(BRAF):c.567T>C (p.Gly189=)
|
rs1057523903
|
0.00001
|
NM_004333.6(BRAF):c.63G>A (p.Gly21=)
|
rs1158725219
|
0.00001
|
NM_004333.6(BRAF):c.675A>G (p.Glu225=)
|
rs755993280
|
0.00001
|
NM_004333.6(BRAF):c.712-18T>C
|
rs535496777
|
0.00001
|
NM_004333.6(BRAF):c.750T>C (p.Phe250=)
|
rs754568893
|
0.00001
|
NM_004333.6(BRAF):c.81C>G (p.Ala27=)
|
rs1330565982
|
0.00001
|
NM_004333.6(BRAF):c.81C>T (p.Ala27=)
|
rs1330565982
|
0.00001
|
NM_004333.6(BRAF):c.87C>T (p.Ala29=)
|
rs1344877993
|
0.00001
|
NM_004333.6(BRAF):c.89G>A (p.Gly30Asp)
|
rs1273585752
|
0.00001
|
NM_004333.6(BRAF):c.951C>A (p.Ser317=)
|
rs755298519
|
0.00001
|
NM_004333.6(BRAF):c.957C>T (p.Ser319=)
|
rs754029526
|
0.00001
|
NM_004333.6(BRAF):c.969G>A (p.Ser323=)
|
rs768134774
|
0.00001
|
NM_004333.6(BRAF):c.976A>G (p.Ile326Val)
|
rs775040765
|
0.00001
|
NM_004333.6(BRAF):c.981-14C>A
|
rs200002171
|
0.00001
|
NM_004333.6(BRAF):c.987A>G (p.Gln329=)
|
rs749386136
|
0.00001
|
NM_004985.5(KRAS):c.111+8T>G
|
rs779370636
|
0.00001
|
NM_004985.5(KRAS):c.112-12C>T
|
rs202104024
|
0.00001
|
NM_004985.5(KRAS):c.15A>G (p.Lys5=)
|
rs104894361
|
0.00001
|
NM_004985.5(KRAS):c.171C>T (p.Asp57=)
|
rs1951406780
|
0.00001
|
NM_004985.5(KRAS):c.291-18C>T
|
rs995378646
|
0.00001
|
NM_004985.5(KRAS):c.411T>C (p.Tyr137=)
|
rs752731198
|
0.00001
|
NM_004985.5(KRAS):c.456T>G (p.Val152=)
|
rs767947451
|
0.00001
|
NM_004985.5(KRAS):c.60G>A (p.Thr20=)
|
rs747140926
|
0.00001
|
NM_005188.4(CBL):c.1008-10C>T
|
rs1376523909
|
0.00001
|
NM_005188.4(CBL):c.1008-11A>G
|
rs1173312041
|
0.00001
|
NM_005188.4(CBL):c.1008-8C>T
|
rs1172261425
|
0.00001
|
NM_005188.4(CBL):c.1071C>T (p.Pro357=)
|
rs397517075
|
0.00001
|
NM_005188.4(CBL):c.108C>T (p.His36=)
|
rs748961080
|
0.00001
|
NM_005188.4(CBL):c.1128C>T (p.Ser376=)
|
rs1949904381
|
0.00001
|
NM_005188.4(CBL):c.1182G>A (p.Glu394=)
|
rs760728674
|
0.00001
|
NM_005188.4(CBL):c.1191A>G (p.Gly397=)
|
rs761630653
|
0.00001
|
NM_005188.4(CBL):c.1206A>G (p.Thr402=)
|
rs764805609
|
0.00001
|
NM_005188.4(CBL):c.120C>T (p.His40=)
|
rs745328496
|
0.00001
|
NM_005188.4(CBL):c.1221C>T (p.Ser407=)
|
rs751978701
|
0.00001
|
NM_005188.4(CBL):c.123C>T (p.His41=)
|
rs144512959
|
0.00001
|
NM_005188.4(CBL):c.1245C>G (p.Gly415=)
|
rs751199195
|
0.00001
|
NM_005188.4(CBL):c.125A>T (p.His42Leu)
|
rs730880433
|
0.00001
|
NM_005188.4(CBL):c.126C>T (p.His42=)
|
rs995977491
|
0.00001
|
NM_005188.4(CBL):c.1281A>G (p.Glu427=)
|
rs773110111
|
0.00001
|
NM_005188.4(CBL):c.1320C>T (p.Gly440=)
|
rs794727972
|
0.00001
|
NM_005188.4(CBL):c.1326G>A (p.Leu442=)
|
rs548423757
|
0.00001
|
NM_005188.4(CBL):c.1431+11A>C
|
rs891410943
|
0.00001
|
NM_005188.4(CBL):c.1455C>G (p.Phe485Leu)
|
rs369547447
|
0.00001
|
NM_005188.4(CBL):c.1552A>G (p.Thr518Ala)
|
rs377734587
|
0.00001
|
NM_005188.4(CBL):c.1563+13C>T
|
rs199795242
|
0.00001
|
NM_005188.4(CBL):c.1564-16C>A
|
rs992126448
|
0.00001
|
NM_005188.4(CBL):c.1680T>C (p.Pro560=)
|
rs1949974116
|
0.00001
|
NM_005188.4(CBL):c.1695G>A (p.Leu565=)
|
rs776804746
|
0.00001
|
NM_005188.4(CBL):c.1788C>G (p.Pro596=)
|
rs1060503995
|
0.00001
|
NM_005188.4(CBL):c.1925G>T (p.Ser642Ile)
|
rs571045498
|
0.00001
|
NM_005188.4(CBL):c.1959A>G (p.Pro653=)
|
rs752080219
|
0.00001
|
NM_005188.4(CBL):c.196-16T>C
|
rs1171075655
|
0.00001
|
NM_005188.4(CBL):c.2004A>T (p.Ser668=)
|
rs994833014
|
0.00001
|
NM_005188.4(CBL):c.2034C>T (p.Ala678=)
|
rs1949996840
|
0.00001
|
NM_005188.4(CBL):c.2055A>G (p.Lys685=)
|
rs1454595224
|
0.00001
|
NM_005188.4(CBL):c.2086G>A (p.Glu696Lys)
|
rs539217274
|
0.00001
|
NM_005188.4(CBL):c.2097G>A (p.Glu699=)
|
rs1057519031
|
0.00001
|
NM_005188.4(CBL):c.2153+10C>T
|
rs745316113
|
0.00001
|
NM_005188.4(CBL):c.2169C>T (p.Asp723=)
|
rs1447136408
|
0.00001
|
NM_005188.4(CBL):c.2222C>T (p.Ala741Val)
|
rs763213265
|
0.00001
|
NM_005188.4(CBL):c.2292C>T (p.Pro764=)
|
rs538991997
|
0.00001
|
NM_005188.4(CBL):c.2316T>G (p.Asp772Glu)
|
rs774428573
|
0.00001
|
NM_005188.4(CBL):c.2346G>A (p.Pro782=)
|
rs762655460
|
0.00001
|
NM_005188.4(CBL):c.2434+15dup
|
rs397517079
|
0.00001
|
NM_005188.4(CBL):c.243A>G (p.Pro81=)
|
rs863224399
|
0.00001
|
NM_005188.4(CBL):c.2451C>T (p.Ser817=)
|
rs1214485253
|
0.00001
|
NM_005188.4(CBL):c.2460C>T (p.Pro820=)
|
rs774166893
|
0.00001
|
NM_005188.4(CBL):c.246T>G (p.Pro82=)
|
rs764747073
|
0.00001
|
NM_005188.4(CBL):c.2556C>T (p.Thr852=)
|
rs199537344
|
0.00001
|
NM_005188.4(CBL):c.2583C>T (p.Ile861=)
|
rs397517080
|
0.00001
|
NM_005188.4(CBL):c.2652C>T (p.Asn884=)
|
rs879302360
|
0.00001
|
NM_005188.4(CBL):c.2655C>T (p.Ile885=)
|
rs747804658
|
0.00001
|
NM_005188.4(CBL):c.36G>A (p.Gly12=)
|
rs764369653
|
0.00001
|
NM_005188.4(CBL):c.443+17A>G
|
rs1438042521
|
0.00001
|
NM_005188.4(CBL):c.444-9C>T
|
rs892852052
|
0.00001
|
NM_005188.4(CBL):c.495A>G (p.Leu165=)
|
rs764992632
|
0.00001
|
NM_005188.4(CBL):c.522T>C (p.Phe174=)
|
rs727502912
|
0.00001
|
NM_005188.4(CBL):c.573A>G (p.Arg191=)
|
rs1254459327
|
0.00001
|
NM_005188.4(CBL):c.590+11G>A
|
rs772028174
|
0.00001
|
NM_005188.4(CBL):c.595A>G (p.Ile199Val)
|
rs397517082
|
0.00001
|
NM_005188.4(CBL):c.624T>C (p.Ala208=)
|
rs757950499
|
0.00001
|
NM_005188.4(CBL):c.660G>A (p.Glu220=)
|
rs949933368
|
0.00001
|
NM_005188.4(CBL):c.714T>G (p.Val238=)
|
rs371523922
|
0.00001
|
NM_005188.4(CBL):c.747+8A>G
|
rs199517263
|
0.00001
|
NM_005188.4(CBL):c.748-15A>G
|
rs879784628
|
0.00001
|
NM_005188.4(CBL):c.822T>C (p.Tyr274=)
|
rs766797364
|
0.00001
|
NM_005188.4(CBL):c.870-18G>T
|
rs1440973761
|
0.00001
|
NM_005188.4(CBL):c.898C>T (p.Leu300=)
|
rs771326694
|
0.00001
|
NM_005188.4(CBL):c.929C>T (p.Ala310Val)
|
rs764199611
|
0.00001
|
NM_005343.4(HRAS):c.111+11C>T
|
rs758933104
|
0.00001
|
NM_005343.4(HRAS):c.111+14C>T
|
rs372917082
|
0.00001
|
NM_005343.4(HRAS):c.111+17C>T
|
rs1851313358
|
0.00001
|
NM_005343.4(HRAS):c.111+18G>A
|
rs759743352
|
0.00001
|
NM_005343.4(HRAS):c.112-10C>T
|
rs727503092
|
0.00001
|
NM_005343.4(HRAS):c.112-13T>A
|
rs766582484
|
0.00001
|
NM_005343.4(HRAS):c.112-9C>T
|
rs1851288449
|
0.00001
|
NM_005343.4(HRAS):c.120C>T (p.Tyr40=)
|
rs763920334
|
0.00001
|
NM_005343.4(HRAS):c.126G>A (p.Lys42=)
|
rs775378080
|
0.00001
|
NM_005343.4(HRAS):c.141T>C (p.Asp47=)
|
rs765092617
|
0.00001
|
NM_005343.4(HRAS):c.150G>A (p.Thr50=)
|
rs1057520421
|
0.00001
|
NM_005343.4(HRAS):c.15G>A (p.Lys5=)
|
rs1368820132
|
0.00001
|
NM_005343.4(HRAS):c.171T>C (p.Asp57=)
|
rs776105083
|
0.00001
|
NM_005343.4(HRAS):c.174C>T (p.Thr58=)
|
rs746639086
|
0.00001
|
NM_005343.4(HRAS):c.198C>T (p.Ala66=)
|
rs1851279330
|
0.00001
|
NM_005343.4(HRAS):c.202C>A (p.Arg68=)
|
rs1370690781
|
0.00001
|
NM_005343.4(HRAS):c.210G>A (p.Gln70=)
|
rs1371974169
|
0.00001
|
NM_005343.4(HRAS):c.219C>T (p.Arg73=)
|
rs749870259
|
0.00001
|
NM_005343.4(HRAS):c.228G>A (p.Glu76=)
|
rs1057522598
|
0.00001
|
NM_005343.4(HRAS):c.231C>T (p.Gly77=)
|
rs1182602668
|
0.00001
|
NM_005343.4(HRAS):c.235C>T (p.Leu79=)
|
rs193163027
|
0.00001
|
NM_005343.4(HRAS):c.24G>C (p.Val8=)
|
rs1451160542
|
0.00001
|
NM_005343.4(HRAS):c.288C>T (p.Tyr96=)
|
rs367794954
|
0.00001
|
NM_005343.4(HRAS):c.290+14G>A
|
rs780757384
|
0.00001
|
NM_005343.4(HRAS):c.291-16G>A
|
rs779917193
|
0.00001
|
NM_005343.4(HRAS):c.291-17C>T
|
rs753558541
|
0.00001
|
NM_005343.4(HRAS):c.291-9del
|
rs749335082
|
0.00001
|
NM_005343.4(HRAS):c.30C>T (p.Gly10=)
|
rs752765965
|
0.00001
|
NM_005343.4(HRAS):c.318G>A (p.Ser106=)
|
rs1053376922
|
0.00001
|
NM_005343.4(HRAS):c.324C>T (p.Asp108=)
|
rs770260347
|
0.00001
|
NM_005343.4(HRAS):c.33C>T (p.Ala11=)
|
rs1162804656
|
0.00001
|
NM_005343.4(HRAS):c.360G>C (p.Leu120=)
|
rs1851245565
|
0.00001
|
NM_005343.4(HRAS):c.411C>T (p.Tyr137=)
|
rs1471385417
|
0.00001
|
NM_005343.4(HRAS):c.426C>T (p.Ile142=)
|
rs533567288
|
0.00001
|
NM_005343.4(HRAS):c.435G>A (p.Ser145=)
|
rs747008553
|
0.00001
|
NM_005343.4(HRAS):c.441G>A (p.Lys147=)
|
rs777386438
|
0.00001
|
NM_005343.4(HRAS):c.450+15C>T
|
rs1851235106
|
0.00001
|
NM_005343.4(HRAS):c.450+16A>G
|
rs754589455
|
0.00001
|
NM_005343.4(HRAS):c.450+18C>T
|
rs1057522255
|
0.00001
|
NM_005343.4(HRAS):c.451-13C>T
|
rs761468352
|
0.00001
|
NM_005343.4(HRAS):c.451-14C>T
|
rs367678988
|
0.00001
|
NM_005343.4(HRAS):c.451-8T>C
|
rs373444310
|
0.00001
|
NM_005343.4(HRAS):c.462T>C (p.Asp154=)
|
rs1412169294
|
0.00001
|
NM_005343.4(HRAS):c.465C>T (p.Ala155=)
|
rs375878504
|
0.00001
|
NM_005343.4(HRAS):c.468C>T (p.Phe156=)
|
rs770648642
|
0.00001
|
NM_005343.4(HRAS):c.474G>A (p.Thr158=)
|
rs747269683
|
0.00001
|
NM_005343.4(HRAS):c.492G>A (p.Arg164=)
|
rs1461319720
|
0.00001
|
NM_005343.4(HRAS):c.498C>A (p.His166Gln)
|
rs878854760
|
0.00001
|
NM_005343.4(HRAS):c.510G>A (p.Lys170=)
|
rs397517143
|
0.00001
|
NM_005343.4(HRAS):c.516C>T (p.Asn172=)
|
rs765180494
|
0.00001
|
NM_005343.4(HRAS):c.519T>G (p.Pro173=)
|
rs759004302
|
0.00001
|
NM_005343.4(HRAS):c.537C>T (p.Pro179=)
|
rs371316832
|
0.00001
|
NM_005343.4(HRAS):c.6G>A (p.Thr2=)
|
rs751944063
|
0.00001
|
NM_005343.4(HRAS):c.90C>T (p.Asp30=)
|
rs745489020
|
0.00001
|
NM_005633.4(SOS1):c.1047C>T (p.His349=)
|
rs1043516636
|
0.00001
|
NM_005633.4(SOS1):c.1059C>T (p.Tyr353=)
|
rs1159277097
|
0.00001
|
NM_005633.4(SOS1):c.1074+17T>C
|
rs1053088254
|
0.00001
|
NM_005633.4(SOS1):c.1075-16C>T
|
rs112540686
|
0.00001
|
NM_005633.4(SOS1):c.1191A>G (p.Lys397=)
|
rs770175415
|
0.00001
|
NM_005633.4(SOS1):c.1203-14T>A
|
rs763121409
|
0.00001
|
NM_005633.4(SOS1):c.1458A>G (p.Ala486=)
|
rs772746896
|
0.00001
|
NM_005633.4(SOS1):c.1532A>G (p.Lys511Arg)
|
rs758393921
|
0.00001
|
NM_005633.4(SOS1):c.1554A>G (p.Leu518=)
|
rs765369803
|
0.00001
|
NM_005633.4(SOS1):c.1626A>G (p.Ile542Met)
|
rs746798986
|
0.00001
|
NM_005633.4(SOS1):c.1648C>T (p.Leu550=)
|
rs1233000238
|
0.00001
|
NM_005633.4(SOS1):c.1710T>C (p.Pro570=)
|
rs918968658
|
0.00001
|
NM_005633.4(SOS1):c.1719T>C (p.Asp573=)
|
rs746674452
|
0.00001
|
NM_005633.4(SOS1):c.1820T>C (p.Ile607Thr)
|
rs758699499
|
0.00001
|
NM_005633.4(SOS1):c.1848T>C (p.His616=)
|
rs1344852617
|
0.00001
|
NM_005633.4(SOS1):c.1859-18T>C
|
rs752274044
|
0.00001
|
NM_005633.4(SOS1):c.1863C>T (p.Pro621=)
|
rs759125551
|
0.00001
|
NM_005633.4(SOS1):c.1956G>A (p.Glu652=)
|
rs1365773428
|
0.00001
|
NM_005633.4(SOS1):c.1995T>C (p.Asn665=)
|
rs779262456
|
0.00001
|
NM_005633.4(SOS1):c.2064-15G>T
|
rs746484679
|
0.00001
|
NM_005633.4(SOS1):c.2091A>T (p.Val697=)
|
rs1669533747
|
0.00001
|
NM_005633.4(SOS1):c.2094G>A (p.Glu698=)
|
rs1669533658
|
0.00001
|
NM_005633.4(SOS1):c.2121T>C (p.Asp707=)
|
rs571408451
|
0.00001
|
NM_005633.4(SOS1):c.2167+8T>C
|
rs1422066325
|
0.00001
|
NM_005633.4(SOS1):c.2168-14A>G
|
rs562337996
|
0.00001
|
NM_005633.4(SOS1):c.2227G>C (p.Ala743Pro)
|
rs759584440
|
0.00001
|
NM_005633.4(SOS1):c.2391-17T>C
|
rs551161418
|
0.00001
|
NM_005633.4(SOS1):c.2448T>A (p.Ile816=)
|
rs770499887
|
0.00001
|
NM_005633.4(SOS1):c.2454T>C (p.Ser818=)
|
rs748802612
|
0.00001
|
NM_005633.4(SOS1):c.2511-9T>A
|
rs769427441
|
0.00001
|
NM_005633.4(SOS1):c.2604T>C (p.Phe868=)
|
rs756520305
|
0.00001
|
NM_005633.4(SOS1):c.2619G>A (p.Glu873=)
|
rs759970732
|
0.00001
|
NM_005633.4(SOS1):c.2739G>A (p.Lys913=)
|
rs997339872
|
0.00001
|
NM_005633.4(SOS1):c.2868A>C (p.Ile956=)
|
rs758834690
|
0.00001
|
NM_005633.4(SOS1):c.2990T>C (p.Met997Thr)
|
rs1321926273
|
0.00001
|
NM_005633.4(SOS1):c.3033C>T (p.Asn1011=)
|
rs1196614292
|
0.00001
|
NM_005633.4(SOS1):c.3060C>T (p.Asn1020=)
|
rs142431345
|
0.00001
|
NM_005633.4(SOS1):c.3081+17T>C
|
rs1299196526
|
0.00001
|
NM_005633.4(SOS1):c.3093T>C (p.Tyr1031=)
|
rs766864647
|
0.00001
|
NM_005633.4(SOS1):c.3105A>C (p.Leu1035=)
|
rs749104275
|
0.00001
|
NM_005633.4(SOS1):c.3114T>G (p.Pro1038=)
|
rs777755307
|
0.00001
|
NM_005633.4(SOS1):c.3189T>C (p.Ile1063=)
|
rs576812416
|
0.00001
|
NM_005633.4(SOS1):c.3282T>G (p.Gly1094=)
|
rs145357714
|
0.00001
|
NM_005633.4(SOS1):c.3346+20G>A
|
rs1255260800
|
0.00001
|
NM_005633.4(SOS1):c.3347-20T>G
|
rs727505382
|
0.00001
|
NM_005633.4(SOS1):c.3370G>A (p.Val1124Ile)
|
rs1342428273
|
0.00001
|
NM_005633.4(SOS1):c.3392-10C>T
|
rs369915721
|
0.00001
|
NM_005633.4(SOS1):c.342A>G (p.Leu114=)
|
rs756743555
|
0.00001
|
NM_005633.4(SOS1):c.3438A>G (p.Glu1146=)
|
rs1226908698
|
0.00001
|
NM_005633.4(SOS1):c.3504A>G (p.Pro1168=)
|
rs748617507
|
0.00001
|
NM_005633.4(SOS1):c.350T>G (p.Val117Gly)
|
rs201085754
|
0.00001
|
NM_005633.4(SOS1):c.3510+16T>C
|
rs755518783
|
0.00001
|
NM_005633.4(SOS1):c.3510+9A>G
|
rs1229357367
|
0.00001
|
NM_005633.4(SOS1):c.3524A>C (p.His1175Pro)
|
rs730881035
|
0.00001
|
NM_005633.4(SOS1):c.3585A>G (p.Arg1195=)
|
rs587781173
|
0.00001
|
NM_005633.4(SOS1):c.3595T>C (p.Ser1199Pro)
|
rs112353205
|
0.00001
|
NM_005633.4(SOS1):c.3732T>C (p.His1244=)
|
rs1391583247
|
0.00001
|
NM_005633.4(SOS1):c.3747C>A (p.Phe1249Leu)
|
rs775837423
|
0.00001
|
NM_005633.4(SOS1):c.376G>A (p.Val126Ile)
|
rs755770649
|
0.00001
|
NM_005633.4(SOS1):c.3795T>G (p.Ser1265=)
|
rs538954728
|
0.00001
|
NM_005633.4(SOS1):c.3801C>T (p.His1267=)
|
rs747676700
|
0.00001
|
NM_005633.4(SOS1):c.3832T>C (p.Leu1278=)
|
rs750354913
|
0.00001
|
NM_005633.4(SOS1):c.3858C>T (p.Ser1286=)
|
rs530210974
|
0.00001
|
NM_005633.4(SOS1):c.3870G>A (p.Pro1290=)
|
rs759856153
|
0.00001
|
NM_005633.4(SOS1):c.3900A>G (p.Gln1300=)
|
rs1343754754
|
0.00001
|
NM_005633.4(SOS1):c.3902A>G (p.His1301Arg)
|
rs771396497
|
0.00001
|
NM_005633.4(SOS1):c.3905T>C (p.Ile1302Thr)
|
rs750296853
|
0.00001
|
NM_005633.4(SOS1):c.3953C>G (p.Ser1318Cys)
|
rs1375806273
|
0.00001
|
NM_005633.4(SOS1):c.3987T>C (p.Asn1329=)
|
rs936986823
|
0.00001
|
NM_005633.4(SOS1):c.429G>A (p.Lys143=)
|
rs773264070
|
0.00001
|
NM_005633.4(SOS1):c.457C>A (p.Arg153=)
|
rs952307464
|
0.00001
|
NM_005633.4(SOS1):c.511-14C>T
|
rs764220485
|
0.00001
|
NM_005633.4(SOS1):c.511-5T>C
|
rs1558491271
|
0.00001
|
NM_005633.4(SOS1):c.51C>T (p.Pro17=)
|
rs567678325
|
0.00001
|
NM_005633.4(SOS1):c.543A>G (p.Glu181=)
|
rs201068374
|
0.00001
|
NM_005633.4(SOS1):c.552T>C (p.Asn184=)
|
rs727503438
|
0.00001
|
NM_005633.4(SOS1):c.582C>T (p.Ser194=)
|
rs746685895
|
0.00001
|
NM_005633.4(SOS1):c.638G>A (p.Arg213Gln)
|
rs374761537
|
0.00001
|
NM_005633.4(SOS1):c.675T>G (p.Val225=)
|
rs371482290
|
0.00001
|
NM_005633.4(SOS1):c.726A>G (p.Val242=)
|
rs1378914590
|
0.00001
|
NM_005633.4(SOS1):c.778C>T (p.Leu260=)
|
rs1407670687
|
0.00001
|
NM_005633.4(SOS1):c.783C>A (p.Gly261=)
|
rs951992465
|
0.00001
|
NM_005633.4(SOS1):c.795T>C (p.Asp265=)
|
rs777745085
|
0.00001
|
NM_005633.4(SOS1):c.798A>C (p.Thr266=)
|
rs756044708
|
0.00001
|
NM_005633.4(SOS1):c.834A>G (p.Leu278=)
|
rs1301517846
|
0.00001
|
NM_005633.4(SOS1):c.864+13A>G
|
rs758808978
|
0.00001
|
NM_005633.4(SOS1):c.865-10A>G
|
rs758617552
|
0.00001
|
NM_005633.4(SOS1):c.865-4T>C
|
rs750788947
|
0.00001
|
NM_005633.4(SOS1):c.87+9C>T
|
rs397517179
|
0.00001
|
NM_005633.4(SOS1):c.88-14C>G
|
rs727504900
|
0.00001
|
NM_005633.4(SOS1):c.928C>T (p.Arg310Cys)
|
rs867539471
|
0.00001
|
NM_005633.4(SOS1):c.984C>T (p.Gly328=)
|
rs778223456
|
0.00001
|
NM_006270.5(RRAS):c.102C>T (p.Val34=)
|
rs754204165
|
0.00001
|
NM_006270.5(RRAS):c.201G>A (p.Thr67=)
|
rs1421164782
|
0.00001
|
NM_006270.5(RRAS):c.241+13A>G
|
rs765391621
|
0.00001
|
NM_006270.5(RRAS):c.351C>T (p.Asn117=)
|
rs374077706
|
0.00001
|
NM_006270.5(RRAS):c.363G>A (p.Lys121=)
|
rs557007484
|
0.00001
|
NM_006270.5(RRAS):c.372G>A (p.Thr124=)
|
rs368978550
|
0.00001
|
NM_006270.5(RRAS):c.37C>A (p.Arg13=)
|
rs1272875791
|
0.00001
|
NM_006270.5(RRAS):c.396C>T (p.Arg132=)
|
rs748366671
|
0.00001
|
NM_006270.5(RRAS):c.534C>T (p.Asn178=)
|
rs773121618
|
0.00001
|
NM_006270.5(RRAS):c.624G>A (p.Lys208=)
|
rs775471738
|
0.00001
|
NM_006270.5(RRAS):c.652C>T (p.Leu218=)
|
rs781768996
|
0.00001
|
NM_006270.5(RRAS):c.69C>T (p.Asp23=)
|
rs1458889244
|
0.00001
|
NM_006912.6(RIT1):c.106+10A>G
|
rs781557110
|
0.00001
|
NM_006912.6(RIT1):c.107-9C>G
|
rs200597833
|
0.00001
|
NM_006912.6(RIT1):c.163+12C>A
|
rs372092063
|
0.00001
|
NM_006912.6(RIT1):c.164-11C>T
|
rs960250196
|
0.00001
|
NM_006912.6(RIT1):c.237+14G>C
|
rs772575179
|
0.00001
|
NM_006912.6(RIT1):c.238-19G>A
|
rs753538357
|
0.00001
|
NM_006912.6(RIT1):c.252C>T (p.Ala84=)
|
rs758393035
|
0.00001
|
NM_006912.6(RIT1):c.393T>C (p.Leu131=)
|
rs34974790
|
0.00001
|
NM_006912.6(RIT1):c.423A>G (p.Leu141=)
|
rs763445246
|
0.00001
|
NM_006912.6(RIT1):c.510T>C (p.Tyr170=)
|
rs765624804
|
0.00001
|
NM_006912.6(RIT1):c.516T>C (p.Asp172=)
|
rs148764677
|
0.00001
|
NM_006912.6(RIT1):c.540G>A (p.Arg180=)
|
rs369738767
|
0.00001
|
NM_006912.6(RIT1):c.564G>A (p.Glu188=)
|
rs1157330685
|
0.00001
|
NM_006912.6(RIT1):c.594G>A (p.Lys198=)
|
rs779457410
|
0.00001
|
NM_006912.6(RIT1):c.603C>T (p.Asn201=)
|
rs367886540
|
0.00001
|
NM_006912.6(RIT1):c.99G>A (p.Gly33=)
|
rs199914900
|
0.00001
|
NM_006939.4(SOS2):c.1059G>A (p.Glu353=)
|
rs1231657921
|
0.00001
|
NM_006939.4(SOS2):c.1068+20T>C
|
rs766636506
|
0.00001
|
NM_006939.4(SOS2):c.1072T>C (p.Leu358=)
|
rs751147588
|
0.00001
|
NM_006939.4(SOS2):c.1196+16T>A
|
rs1885007067
|
0.00001
|
NM_006939.4(SOS2):c.1211C>T (p.Pro404Leu)
|
rs201265921
|
0.00001
|
NM_006939.4(SOS2):c.1326C>T (p.Phe442=)
|
rs150365706
|
0.00001
|
NM_006939.4(SOS2):c.1443C>T (p.Tyr481=)
|
rs755043578
|
0.00001
|
NM_006939.4(SOS2):c.1446T>C (p.Ser482=)
|
rs1468565433
|
0.00001
|
NM_006939.4(SOS2):c.1458C>T (p.Tyr486=)
|
rs199651967
|
0.00001
|
NM_006939.4(SOS2):c.1714G>A (p.Val572Ile)
|
rs762733592
|
0.00001
|
NM_006939.4(SOS2):c.1716A>G (p.Val572=)
|
rs772880193
|
0.00001
|
NM_006939.4(SOS2):c.1839T>C (p.Tyr613=)
|
rs780152724
|
0.00001
|
NM_006939.4(SOS2):c.1853-10G>A
|
rs1033696008
|
0.00001
|
NM_006939.4(SOS2):c.1889G>A (p.Arg630His)
|
rs754778456
|
0.00001
|
NM_006939.4(SOS2):c.1911A>T (p.Glu637Asp)
|
rs751563078
|
0.00001
|
NM_006939.4(SOS2):c.1934+13T>C
|
rs764631414
|
0.00001
|
NM_006939.4(SOS2):c.1935-16T>C
|
rs750298172
|
0.00001
|
NM_006939.4(SOS2):c.1975T>C (p.Leu659=)
|
rs775886849
|
0.00001
|
NM_006939.4(SOS2):c.1989A>G (p.Lys663=)
|
rs1488158197
|
0.00001
|
NM_006939.4(SOS2):c.2057+15T>A
|
rs1374367606
|
0.00001
|
NM_006939.4(SOS2):c.214-12G>A
|
rs763259138
|
0.00001
|
NM_006939.4(SOS2):c.2161+10A>G
|
rs201629454
|
0.00001
|
NM_006939.4(SOS2):c.2162-11T>C
|
rs369526899
|
0.00001
|
NM_006939.4(SOS2):c.2184A>C (p.Val728=)
|
rs776046903
|
0.00001
|
NM_006939.4(SOS2):c.2246A>G (p.Asn749Ser)
|
rs761689009
|
0.00001
|
NM_006939.4(SOS2):c.2253C>T (p.Thr751=)
|
rs1050544302
|
0.00001
|
NM_006939.4(SOS2):c.2264C>T (p.Pro755Leu)
|
rs868005783
|
0.00001
|
NM_006939.4(SOS2):c.2271A>G (p.Pro757=)
|
rs1457757510
|
0.00001
|
NM_006939.4(SOS2):c.2290A>G (p.Ser764Gly)
|
rs779464455
|
0.00001
|
NM_006939.4(SOS2):c.2385-6C>T
|
rs147948407
|
0.00001
|
NM_006939.4(SOS2):c.2643A>G (p.Val881=)
|
rs1329137002
|
0.00001
|
NM_006939.4(SOS2):c.2646C>T (p.Tyr882=)
|
rs761205651
|
0.00001
|
NM_006939.4(SOS2):c.2668-10A>G
|
rs376672810
|
0.00001
|
NM_006939.4(SOS2):c.2730T>A (p.Phe910Leu)
|
rs756711721
|
0.00001
|
NM_006939.4(SOS2):c.273A>G (p.Gln91=)
|
rs757139228
|
0.00001
|
NM_006939.4(SOS2):c.2916T>C (p.Tyr972=)
|
rs979918396
|
0.00001
|
NM_006939.4(SOS2):c.2958+17C>T
|
rs889359090
|
0.00001
|
NM_006939.4(SOS2):c.3042T>A (p.Ile1014=)
|
rs1447097552
|
0.00001
|
NM_006939.4(SOS2):c.3076-20A>T
|
rs760423846
|
0.00001
|
NM_006939.4(SOS2):c.3079A>C (p.Arg1027=)
|
rs1273822060
|
0.00001
|
NM_006939.4(SOS2):c.3097T>C (p.Leu1033=)
|
rs1047180820
|
0.00001
|
NM_006939.4(SOS2):c.3138C>T (p.Gly1046=)
|
rs755189158
|
0.00001
|
NM_006939.4(SOS2):c.3153T>A (p.Thr1051=)
|
rs1156744729
|
0.00001
|
NM_006939.4(SOS2):c.3174A>G (p.Pro1058=)
|
rs763708050
|
0.00001
|
NM_006939.4(SOS2):c.3244G>A (p.Ala1082Thr)
|
rs1470270507
|
0.00001
|
NM_006939.4(SOS2):c.3267A>G (p.Pro1089=)
|
rs748295112
|
0.00001
|
NM_006939.4(SOS2):c.3279A>C (p.Pro1093=)
|
rs780697283
|
0.00001
|
NM_006939.4(SOS2):c.3338-6C>G
|
rs749149552
|
0.00001
|
NM_006939.4(SOS2):c.339G>A (p.Ser113=)
|
rs543155109
|
0.00001
|
NM_006939.4(SOS2):c.3407T>C (p.Leu1136Ser)
|
rs372874114
|
0.00001
|
NM_006939.4(SOS2):c.340T>C (p.Leu114=)
|
rs1886467495
|
0.00001
|
NM_006939.4(SOS2):c.3531G>A (p.Pro1177=)
|
rs1248324702
|
0.00001
|
NM_006939.4(SOS2):c.3573T>G (p.Val1191=)
|
rs756940411
|
0.00001
|
NM_006939.4(SOS2):c.357G>A (p.Gly119=)
|
rs749639774
|
0.00001
|
NM_006939.4(SOS2):c.360C>T (p.Tyr120=)
|
rs762044455
|
0.00001
|
NM_006939.4(SOS2):c.3615G>A (p.Pro1205=)
|
rs750601074
|
0.00001
|
NM_006939.4(SOS2):c.3642T>C (p.Asp1214=)
|
rs376033858
|
0.00001
|
NM_006939.4(SOS2):c.3698A>C (p.Asn1233Thr)
|
rs201756168
|
0.00001
|
NM_006939.4(SOS2):c.3738A>C (p.Ser1246=)
|
rs767257405
|
0.00001
|
NM_006939.4(SOS2):c.374A>T (p.His125Leu)
|
rs777300218
|
0.00001
|
NM_006939.4(SOS2):c.3774G>A (p.Ser1258=)
|
rs747521589
|
0.00001
|
NM_006939.4(SOS2):c.3782C>G (p.Thr1261Ser)
|
rs780772018
|
0.00001
|
NM_006939.4(SOS2):c.3815G>A (p.Arg1272His)
|
rs200104745
|
0.00001
|
NM_006939.4(SOS2):c.3824A>G (p.Tyr1275Cys)
|
rs371619971
|
0.00001
|
NM_006939.4(SOS2):c.3825T>C (p.Tyr1275=)
|
rs1163199209
|
0.00001
|
NM_006939.4(SOS2):c.384A>G (p.Leu128=)
|
rs772264111
|
0.00001
|
NM_006939.4(SOS2):c.3945G>A (p.Ser1315=)
|
rs143427064
|
0.00001
|
NM_006939.4(SOS2):c.3954A>G (p.Pro1318=)
|
rs751408063
|
0.00001
|
NM_006939.4(SOS2):c.396T>C (p.Ala132=)
|
rs774402309
|
0.00001
|
NM_006939.4(SOS2):c.3984A>G (p.Ala1328=)
|
rs776266602
|
0.00001
|
NM_006939.4(SOS2):c.3987A>C (p.Glu1329Asp)
|
rs146527239
|
0.00001
|
NM_006939.4(SOS2):c.592A>T (p.Asn198Tyr)
|
rs753283972
|
0.00001
|
NM_006939.4(SOS2):c.600T>C (p.Tyr200=)
|
rs766470992
|
0.00001
|
NM_006939.4(SOS2):c.680C>G (p.Ala227Gly)
|
rs756565236
|
0.00001
|
NM_006939.4(SOS2):c.753T>C (p.His251=)
|
rs1283549797
|
0.00001
|
NM_006939.4(SOS2):c.780G>T (p.Leu260Phe)
|
rs1348457314
|
0.00001
|
NM_006939.4(SOS2):c.804T>C (p.Thr268=)
|
rs750437794
|
0.00001
|
NM_006939.4(SOS2):c.813C>T (p.Ser271=)
|
rs371598827
|
0.00001
|
NM_006939.4(SOS2):c.839G>C (p.Cys280Ser)
|
rs530007285
|
0.00001
|
NM_006939.4(SOS2):c.84G>A (p.Arg28=)
|
rs766189187
|
0.00001
|
NM_006939.4(SOS2):c.858+7T>C
|
rs560994504
|
0.00001
|
NM_006939.4(SOS2):c.859-10A>T
|
rs761341096
|
0.00001
|
NM_006939.4(SOS2):c.87+19G>A
|
rs1409712681
|
0.00001
|
NM_006939.4(SOS2):c.88-13C>A
|
rs749789629
|
0.00001
|
NM_006939.4(SOS2):c.88-5T>A
|
rs767732779
|
0.00001
|
NM_006939.4(SOS2):c.954T>A (p.Val318=)
|
rs1376460738
|
0.00001
|
NM_006939.4(SOS2):c.958C>T (p.Leu320=)
|
rs777858898
|
0.00001
|
NM_007373.4(SHOC2):c.1033T>C (p.Leu345=)
|
rs1220830387
|
0.00001
|
NM_007373.4(SHOC2):c.1047T>C (p.Gly349=)
|
rs199869304
|
0.00001
|
NM_007373.4(SHOC2):c.1101C>T (p.Ile367=)
|
rs777877344
|
0.00001
|
NM_007373.4(SHOC2):c.1161+7A>G
|
rs368326616
|
0.00001
|
NM_007373.4(SHOC2):c.1215A>G (p.Val405=)
|
rs749123957
|
0.00001
|
NM_007373.4(SHOC2):c.1272C>T (p.Leu424=)
|
rs144379168
|
0.00001
|
NM_007373.4(SHOC2):c.1344G>A (p.Arg448=)
|
rs1309539987
|
0.00001
|
NM_007373.4(SHOC2):c.1404A>G (p.Ala468=)
|
rs764705344
|
0.00001
|
NM_007373.4(SHOC2):c.1447T>C (p.Leu483=)
|
rs539117121
|
0.00001
|
NM_007373.4(SHOC2):c.1521T>C (p.Thr507=)
|
rs780849465
|
0.00001
|
NM_007373.4(SHOC2):c.1540+12G>A
|
rs369850100
|
0.00001
|
NM_007373.4(SHOC2):c.1665C>T (p.His555=)
|
rs1060504382
|
0.00001
|
NM_007373.4(SHOC2):c.1704C>A (p.Ile568=)
|
rs1219650171
|
0.00001
|
NM_007373.4(SHOC2):c.171C>T (p.Ser57=)
|
rs1554857645
|
0.00001
|
NM_007373.4(SHOC2):c.183A>G (p.Gln61=)
|
rs371640183
|
0.00001
|
NM_007373.4(SHOC2):c.303T>C (p.Asn101=)
|
rs750568201
|
0.00001
|
NM_007373.4(SHOC2):c.319T>C (p.Leu107=)
|
rs1847639079
|
0.00001
|
NM_007373.4(SHOC2):c.333T>C (p.Ser111=)
|
rs758161464
|
0.00001
|
NM_007373.4(SHOC2):c.354A>G (p.Ser118=)
|
rs1302774310
|
0.00001
|
NM_007373.4(SHOC2):c.390A>G (p.Leu130=)
|
rs143895483
|
0.00001
|
NM_007373.4(SHOC2):c.704-10C>T
|
rs748271956
|
0.00001
|
NM_007373.4(SHOC2):c.841+16G>T
|
rs1228162304
|
0.00001
|
NM_007373.4(SHOC2):c.879T>C (p.Tyr293=)
|
rs773817796
|
0.00001
|
NM_007373.4(SHOC2):c.981A>G (p.Leu327=)
|
rs1440014484
|
0.00001
|
NM_030662.4(MAP2K2):c.1046+16C>A
|
rs906888337
|
0.00001
|
NM_030662.4(MAP2K2):c.1085T>C (p.Met362Thr)
|
rs730880513
|
0.00001
|
NM_030662.4(MAP2K2):c.1092+14G>T
|
rs371297574
|
0.00001
|
NM_030662.4(MAP2K2):c.1092+16G>A
|
rs755758122
|
0.00001
|
NM_030662.4(MAP2K2):c.168C>T (p.Ala56=)
|
rs147814905
|
0.00001
|
NM_030662.4(MAP2K2):c.195C>T (p.Gly65=)
|
rs765755630
|
0.00001
|
NM_030662.4(MAP2K2):c.207C>T (p.Asp69=)
|
rs199850535
|
0.00001
|
NM_030662.4(MAP2K2):c.216C>T (p.Phe72=)
|
rs1057517929
|
0.00001
|
NM_030662.4(MAP2K2):c.237C>T (p.Gly79=)
|
rs755173195
|
0.00001
|
NM_030662.4(MAP2K2):c.238G>A (p.Ala80Thr)
|
rs751795549
|
0.00001
|
NM_030662.4(MAP2K2):c.249C>T (p.Gly83=)
|
rs762268865
|
0.00001
|
NM_030662.4(MAP2K2):c.304-19C>T
|
rs373352091
|
0.00001
|
NM_030662.4(MAP2K2):c.357G>A (p.Leu119=)
|
rs1377039329
|
0.00001
|
NM_030662.4(MAP2K2):c.381G>A (p.Ser127=)
|
rs751309637
|
0.00001
|
NM_030662.4(MAP2K2):c.384G>A (p.Pro128=)
|
rs727503156
|
0.00001
|
NM_030662.4(MAP2K2):c.390C>T (p.Ile130=)
|
rs749956316
|
0.00001
|
NM_030662.4(MAP2K2):c.429C>T (p.Ile143=)
|
rs769762171
|
0.00001
|
NM_030662.4(MAP2K2):c.447C>T (p.His149=)
|
rs771338833
|
0.00001
|
NM_030662.4(MAP2K2):c.510G>A (p.Leu170=)
|
rs754109836
|
0.00001
|
NM_030662.4(MAP2K2):c.528+17C>G
|
rs772831774
|
0.00001
|
NM_030662.4(MAP2K2):c.528+7C>T
|
rs774589111
|
0.00001
|
NM_030662.4(MAP2K2):c.529-13C>T
|
rs752950899
|
0.00001
|
NM_030662.4(MAP2K2):c.529-18C>G
|
rs951927130
|
0.00001
|
NM_030662.4(MAP2K2):c.529-5T>C
|
rs766943752
|
0.00001
|
NM_030662.4(MAP2K2):c.531T>C (p.Val177=)
|
rs528169616
|
0.00001
|
NM_030662.4(MAP2K2):c.581-13C>T
|
rs780175317
|
0.00001
|
NM_030662.4(MAP2K2):c.597C>T (p.Asn199=)
|
rs773947810
|
0.00001
|
NM_030662.4(MAP2K2):c.621G>A (p.Glu207=)
|
rs397517416
|
0.00001
|
NM_030662.4(MAP2K2):c.639C>T (p.Phe213=)
|
rs727504818
|
0.00001
|
NM_030662.4(MAP2K2):c.681C>T (p.Phe227=)
|
rs751129624
|
0.00001
|
NM_030662.4(MAP2K2):c.699C>T (p.Tyr233=)
|
rs1044588100
|
0.00001
|
NM_030662.4(MAP2K2):c.705+8C>G
|
rs1022845408
|
0.00001
|
NM_030662.4(MAP2K2):c.735G>A (p.Ser245=)
|
rs765121673
|
0.00001
|
NM_030662.4(MAP2K2):c.783C>T (p.Ala261=)
|
rs1060504779
|
0.00001
|
NM_030662.4(MAP2K2):c.786C>T (p.Val262=)
|
rs748653844
|
0.00001
|
NM_030662.4(MAP2K2):c.810C>T (p.Pro270=)
|
rs374119774
|
0.00001
|
NM_030662.4(MAP2K2):c.811G>A (p.Asp271Asn)
|
rs758031424
|
0.00001
|
NM_030662.4(MAP2K2):c.912C>T (p.Pro304=)
|
rs1006127521
|
0.00001
|
NM_030662.4(MAP2K2):c.92+11A>C
|
rs1228838756
|
0.00001
|
NM_030662.4(MAP2K2):c.920-6G>A
|
rs1258620869
|
0.00001
|
NM_030662.4(MAP2K2):c.951C>T (p.Ala317=)
|
rs1041035741
|
0.00001
|
NM_030662.4(MAP2K2):c.96A>G (p.Ala32=)
|
rs1555698705
|
0.00001
|
NM_033360.4(KRAS):c.112-5C>T
|
rs376520586
|
0.00001
|
NM_033360.4(KRAS):c.417T>C (p.Ile139=)
|
rs1555193843
|
0.00001
|
NM_152594.3(SPRED1):c.*5202C>T
|
rs541213700
|
0.00001
|
NM_152594.3(SPRED1):c.1146C>T (p.Asp382=)
|
rs1286583801
|
0.00001
|
NM_152594.3(SPRED1):c.1191C>T (p.Asp397=)
|
rs749745659
|
0.00001
|
NM_152594.3(SPRED1):c.123C>T (p.Ser41=)
|
rs748759533
|
0.00001
|
NM_152594.3(SPRED1):c.1278C>T (p.Cys426=)
|
rs1313604330
|
0.00001
|
NM_152594.3(SPRED1):c.15G>C (p.Thr5=)
|
rs1278027767
|
0.00001
|
NM_152594.3(SPRED1):c.196A>C (p.Arg66=)
|
rs751923342
|
0.00001
|
NM_152594.3(SPRED1):c.207+19A>G
|
rs369538663
|
0.00001
|
NM_152594.3(SPRED1):c.208-6T>C
|
rs1241478218
|
0.00001
|
NM_152594.3(SPRED1):c.27C>T (p.Asp9=)
|
rs727504717
|
0.00001
|
NM_152594.3(SPRED1):c.321T>C (p.Ala107=)
|
rs770197803
|
0.00001
|
NM_152594.3(SPRED1):c.33-11A>G
|
rs775671940
|
0.00001
|
NM_152594.3(SPRED1):c.33-7A>G
|
rs760850290
|
0.00001
|
NM_152594.3(SPRED1):c.348C>T (p.Ile116=)
|
rs773363523
|
0.00001
|
NM_152594.3(SPRED1):c.377-19del
|
rs1267902445
|
0.00001
|
NM_152594.3(SPRED1):c.384C>T (p.Pro128=)
|
rs761058615
|
0.00001
|
NM_152594.3(SPRED1):c.39T>C (p.Ser13=)
|
rs1303549798
|
0.00001
|
NM_152594.3(SPRED1):c.424-15G>A
|
rs1438431114
|
0.00001
|
NM_152594.3(SPRED1):c.561C>T (p.Tyr187=)
|
rs201335683
|
0.00001
|
NM_152594.3(SPRED1):c.60G>C (p.Val20=)
|
rs367745143
|
0.00001
|
NM_152594.3(SPRED1):c.930A>G (p.Val310=)
|
rs1164761920
|
0.00001
|
NM_152594.3(SPRED1):c.954A>G (p.Leu318=)
|
rs753357510
|
0.00001
|
NM_152594.3(SPRED1):c.990T>G (p.Gly330=)
|
rs1184835258
|
0.00001
|
NC_000003.11:g.(?_12632277)_(12660220_?)dup
|
|
|
NM_001042492.3(NF1):c.*125del
|
rs397754615
|
|
NM_001042492.3(NF1):c.*2215_*2219del
|
rs201032889
|
|
NM_001042492.3(NF1):c.*584G>C
|
rs190144445
|
|
NM_001042492.3(NF1):c.1014T>C (p.Asp338=)
|
rs2066508867
|
|
NM_001042492.3(NF1):c.1017C>T (p.Asn339=)
|
rs2143873940
|
|
NM_001042492.3(NF1):c.1023C>T (p.Val341=)
|
rs776720136
|
|
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.1032A>T (p.Leu344=)
|
rs199832006
|
|
NM_001042492.3(NF1):c.1035T>C (p.Leu345=)
|
rs2143874306
|
|
NM_001042492.3(NF1):c.1056T>C (p.Asp352=)
|
rs2143874593
|
|
NM_001042492.3(NF1):c.1059T>G (p.Leu353=)
|
|
|
NM_001042492.3(NF1):c.1062+10T>C
|
rs1198681277
|
|
NM_001042492.3(NF1):c.1062+14T>G
|
|
|
NM_001042492.3(NF1):c.1062+8_1062+13del
|
rs2143874865
|
|
NM_001042492.3(NF1):c.1062+9del
|
|
|
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.1063-15T>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.1068G>A (p.Leu356=)
|
rs1259636575
|
|
NM_001042492.3(NF1):c.1071T>G (p.Leu357=)
|
rs2143878503
|
|
NM_001042492.3(NF1):c.1080A>G (p.Pro360=)
|
rs777642846
|
|
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.1092C>T (p.Phe364=)
|
rs2143878725
|
|
NM_001042492.3(NF1):c.1095A>T (p.Ser365=)
|
rs150814769
|
|
NM_001042492.3(NF1):c.1098A>G (p.Arg366=)
|
rs1597681964
|
|
NM_001042492.3(NF1):c.1101C>G (p.Gly367=)
|
rs2066519556
|
|
NM_001042492.3(NF1):c.1107G>A (p.Gln369=)
|
rs1193249274
|
|
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.111G>A (p.Glu37=)
|
rs1555604893
|
|
NM_001042492.3(NF1):c.1122T>C (p.Asp374=)
|
rs2143879438
|
|
NM_001042492.3(NF1):c.1131T>C (p.Ile377=)
|
rs1555610993
|
|
NM_001042492.3(NF1):c.1146T>G (p.Ser382=)
|
rs2143879905
|
|
NM_001042492.3(NF1):c.1149C>T (p.Cys383=)
|
rs2143879948
|
|
NM_001042492.3(NF1):c.1155T>C (p.Arg385=)
|
rs2143880061
|
|
NM_001042492.3(NF1):c.1167C>T (p.His389=)
|
|
|
NM_001042492.3(NF1):c.1179C>T (p.His393=)
|
|
|
NM_001042492.3(NF1):c.117C>T (p.Asn39=)
|
rs1555604894
|
|
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+20T>G
|
rs2066522265
|
|
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.1186-13T>C
|
|
|
NM_001042492.3(NF1):c.1186-15T>C
|
|
|
NM_001042492.3(NF1):c.1186-16T>C
|
rs2143885173
|
|
NM_001042492.3(NF1):c.1186-20T>G
|
|
|
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.1186-8T>C
|
rs921012432
|
|
NM_001042492.3(NF1):c.1188C>T (p.Ile396=)
|
rs775109720
|
|
NM_001042492.3(NF1):c.1191C>T (p.Cys397=)
|
rs2143885629
|
|
NM_001042492.3(NF1):c.1197T>C (p.Ala399=)
|
rs1597682745
|
|
NM_001042492.3(NF1):c.1215A>C (p.Thr405=)
|
|
|
NM_001042492.3(NF1):c.1215A>T (p.Thr405=)
|
rs1405569320
|
|
NM_001042492.3(NF1):c.1221C>T (p.His407=)
|
rs1439320467
|
|
NM_001042492.3(NF1):c.1224T>C (p.Tyr408=)
|
rs1555611089
|
|
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.1230G>A (p.Leu410=)
|
rs1168457824
|
|
NM_001042492.3(NF1):c.1230G>T (p.Leu410=)
|
|
|
NM_001042492.3(NF1):c.1233A>G (p.Val411=)
|
rs2143886403
|
|
NM_001042492.3(NF1):c.1239A>G (p.Ser413=)
|
|
|
NM_001042492.3(NF1):c.1242C>T (p.Leu414=)
|
|
|
NM_001042492.3(NF1):c.1251C>T (p.Ile417=)
|
rs1555611103
|
|
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.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>T
|
rs2066529819
|
|
NM_001042492.3(NF1):c.1260+16A>G
|
rs2066529931
|
|
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+20C>G
|
|
|
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.1261-12_1261-9del
|
|
|
NM_001042492.3(NF1):c.1261-12del
|
rs2143913235
|
|
NM_001042492.3(NF1):c.1261-13T>C
|
rs1597688674
|
|
NM_001042492.3(NF1):c.1261-17T>G
|
|
|
NM_001042492.3(NF1):c.1261-18G>A
|
rs2143913110
|
|
NM_001042492.3(NF1):c.1261-20T>C
|
|
|
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.1266A>G (p.Ala422=)
|
rs1555611565
|
|
NM_001042492.3(NF1):c.1267T>C (p.Leu423=)
|
rs773108080
|
|
NM_001042492.3(NF1):c.127C>T (p.Leu43=)
|
rs1060503913
|
|
NM_001042492.3(NF1):c.129A>G (p.Leu43=)
|
rs759576680
|
|
NM_001042492.3(NF1):c.1305C>T (p.His435=)
|
rs786201720
|
|
NM_001042492.3(NF1):c.1308G>T (p.Ser436=)
|
rs765425127
|
|
NM_001042492.3(NF1):c.1317T>G (p.Leu439=)
|
|
|
NM_001042492.3(NF1):c.1329T>C (p.Phe443=)
|
rs1597688853
|
|
NM_001042492.3(NF1):c.1332T>C (p.Gly444=)
|
rs1597688871
|
|
NM_001042492.3(NF1):c.1332T>G (p.Gly444=)
|
|
|
NM_001042492.3(NF1):c.1335A>G (p.Glu445=)
|
rs1597688882
|
|
NM_001042492.3(NF1):c.1338A>C (p.Thr446=)
|
|
|
NM_001042492.3(NF1):c.1341T>A (p.Leu447=)
|
rs2066620984
|
|
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.1368A>T (p.Ala456=)
|
|
|
NM_001042492.3(NF1):c.1374A>G (p.Pro458=)
|
rs1555611601
|
|
NM_001042492.3(NF1):c.1381C>A (p.Arg461=)
|
rs878853865
|
|
NM_001042492.3(NF1):c.1389A>G (p.Ala463=)
|
rs1131923
|
|
NM_001042492.3(NF1):c.1392+10A>G
|
rs1060503886
|
|
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+3A>G
|
|
|
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.1393-12T>C
|
rs1396610590
|
|
NM_001042492.3(NF1):c.1393-17T>C
|
rs2143958306
|
|
NM_001042492.3(NF1):c.1393-20T>C
|
rs1057523234
|
|
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.1401A>G (p.Thr467=)
|
rs2143958740
|
|
NM_001042492.3(NF1):c.1407A>G (p.Lys469=)
|
rs2143958833
|
|
NM_001042492.3(NF1):c.141C>A (p.Ser47=)
|
|
|
NM_001042492.3(NF1):c.141C>T (p.Ser47=)
|
rs1597626009
|
|
NM_001042492.3(NF1):c.1422C>T (p.Ser474=)
|
rs1597698349
|
|
NM_001042492.3(NF1):c.1431T>C (p.Phe477=)
|
rs1555612278
|
|
NM_001042492.3(NF1):c.1446A>G (p.Thr482=)
|
|
|
NM_001042492.3(NF1):c.1449C>T (p.Asp483=)
|
rs2143959355
|
|
NM_001042492.3(NF1):c.1450C>T (p.Leu484=)
|
rs876657544
|
|
NM_001042492.3(NF1):c.1452G>A (p.Leu484=)
|
rs2143959403
|
|
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.1467T>C (p.Tyr489=)
|
rs1567841799
|
|
NM_001042492.3(NF1):c.147C>T (p.Tyr49=)
|
rs1597626026
|
|
NM_001042492.3(NF1):c.1482G>A (p.Leu494=)
|
|
|
NM_001042492.3(NF1):c.1485C>T (p.Ser495=)
|
|
|
NM_001042492.3(NF1):c.1491G>A (p.Val497=)
|
|
|
NM_001042492.3(NF1):c.1495C>T (p.Leu499=)
|
rs764095472
|
|
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.1512A>G (p.Pro504=)
|
rs2143960524
|
|
NM_001042492.3(NF1):c.1518C>T (p.Leu506=)
|
rs1597698504
|
|
NM_001042492.3(NF1):c.1519T>C (p.Leu507=)
|
rs876659815
|
|
NM_001042492.3(NF1):c.1527+1159C>G
|
rs878853868
|
|
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+20A>C
|
|
|
NM_001042492.3(NF1):c.1527+7A>G
|
rs1555612295
|
|
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.1528-3C>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.1528-9T>C
|
rs1060503916
|
|
NM_001042492.3(NF1):c.1530T>C (p.Asn510=)
|
rs1275899558
|
|
NM_001042492.3(NF1):c.153T>C (p.Phe51=)
|
rs1057523892
|
|
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.1548C>T (p.Pro516=)
|
rs768883989
|
|
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.1557A>G (p.Gln519=)
|
|
|
NM_001042492.3(NF1):c.1560C>T (p.Gly520=)
|
rs112168406
|
|
NM_001042492.3(NF1):c.1563T>C (p.Ser521=)
|
|
|
NM_001042492.3(NF1):c.1569A>G (p.Ala523=)
|
rs1555612830
|
|
NM_001042492.3(NF1):c.1575A>G (p.Leu525=)
|
|
|
NM_001042492.3(NF1):c.1578T>A (p.Ile526=)
|
rs1597703458
|
|
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.1584G>T (p.Gly528=)
|
rs2143986476
|
|
NM_001042492.3(NF1):c.1587C>G (p.Leu529=)
|
rs786203041
|
|
NM_001042492.3(NF1):c.1590C>T (p.Val530=)
|
rs2143986587
|
|
NM_001042492.3(NF1):c.1594C>T (p.Leu532=)
|
rs2143986669
|
|
NM_001042492.3(NF1):c.1599C>T (p.Val533=)
|
rs369458366
|
|
NM_001042492.3(NF1):c.15G>A (p.Arg5=)
|
|
|
NM_001042492.3(NF1):c.1602T>C (p.Pro534=)
|
rs1205604823
|
|
NM_001042492.3(NF1):c.1611C>T (p.His537=)
|
rs1597703539
|
|
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.1626T>C (p.Ala542=)
|
rs2143987218
|
|
NM_001042492.3(NF1):c.162T>C (p.Val54=)
|
rs876660899
|
|
NM_001042492.3(NF1):c.1632A>G (p.Glu544=)
|
rs1597703585
|
|
NM_001042492.3(NF1):c.1641+19C>T
|
rs2066878542
|
|
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+7G>A
|
rs1060503887
|
|
NM_001042492.3(NF1):c.1641+7G>C
|
rs1060503887
|
|
NM_001042492.3(NF1):c.1641+8G>C
|
rs758022528
|
|
NM_001042492.3(NF1):c.1641+9A>G
|
|
|
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.1642-18C>A
|
|
|
NM_001042492.3(NF1):c.1642-18C>G
|
|
|
NM_001042492.3(NF1):c.1642-20C>G
|
rs1446556987
|
|
NM_001042492.3(NF1):c.1642-20C>T
|
|
|
NM_001042492.3(NF1):c.1642-4T>C
|
rs786202197
|
|
NM_001042492.3(NF1):c.1642-5T>A
|
|
|
NM_001042492.3(NF1):c.1644T>C (p.Ala548=)
|
|
|
NM_001042492.3(NF1):c.1645C>T (p.Leu549=)
|
|
|
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.1650G>A (p.Leu550=)
|
rs1555613190
|
|
NM_001042492.3(NF1):c.1650G>C (p.Leu550=)
|
rs1555613190
|
|
NM_001042492.3(NF1):c.1659T>C (p.His553=)
|
rs2144003928
|
|
NM_001042492.3(NF1):c.1668T>C (p.Asp556=)
|
rs1597706678
|
|
NM_001042492.3(NF1):c.1671C>T (p.Ser557=)
|
rs1440915203
|
|
NM_001042492.3(NF1):c.1674T>C (p.Ile558=)
|
rs2144004226
|
|
NM_001042492.3(NF1):c.1677T>C (p.Asp559=)
|
rs1209447028
|
|
NM_001042492.3(NF1):c.1689T>C (p.Pro563=)
|
rs1445925500
|
|
NM_001042492.3(NF1):c.1695T>C (p.Ala565=)
|
|
|
NM_001042492.3(NF1):c.1698T>C (p.Pro566=)
|
rs2144004618
|
|
NM_001042492.3(NF1):c.1707A>G (p.Thr569=)
|
rs1060503898
|
|
NM_001042492.3(NF1):c.1710T>C (p.Phe570=)
|
rs1462741584
|
|
NM_001042492.3(NF1):c.171C>A (p.Gly57=)
|
rs876658709
|
|
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+5A>G
|
rs876658961
|
|
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.1722-10G>A
|
rs2144015327
|
|
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.1722-16C>G
|
|
|
NM_001042492.3(NF1):c.1722-16C>T
|
rs759896772
|
|
NM_001042492.3(NF1):c.1722-19G>A
|
|
|
NM_001042492.3(NF1):c.1722-19G>T
|
|
|
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.1728A>G (p.Gln576=)
|
rs1057523206
|
|
NM_001042492.3(NF1):c.1734T>C (p.Leu578=)
|
rs876658128
|
|
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.1755A>G (p.Leu585=)
|
rs1597708685
|
|
NM_001042492.3(NF1):c.1761T>C (p.Ser587=)
|
|
|
NM_001042492.3(NF1):c.1764T>C (p.His588=)
|
rs1229784876
|
|
NM_001042492.3(NF1):c.1767A>G (p.Gln589=)
|
rs2144016279
|
|
NM_001042492.3(NF1):c.1782A>T (p.Thr594=)
|
|
|
NM_001042492.3(NF1):c.1791C>G (p.Leu597=)
|
rs1597708736
|
|
NM_001042492.3(NF1):c.1801C>A (p.Arg601=)
|
rs587782592
|
|
NM_001042492.3(NF1):c.180T>C (p.Thr60=)
|
rs1597626116
|
|
NM_001042492.3(NF1):c.180T>G (p.Thr60=)
|
|
|
NM_001042492.3(NF1):c.1812G>A (p.Leu604=)
|
rs2066963883
|
|
NM_001042492.3(NF1):c.1818C>T (p.Cys606=)
|
rs1567845937
|
|
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+9A>G
|
rs2144017504
|
|
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.1846-20A>G
|
rs2144025337
|
|
NM_001042492.3(NF1):c.1846-22TTAT[2]
|
rs754412829
|
|
NM_001042492.3(NF1):c.1846-4C>T
|
|
|
NM_001042492.3(NF1):c.1846-5T>C
|
rs1567846600
|
|
NM_001042492.3(NF1):c.1846-8T>A
|
rs886052799
|
|
NM_001042492.3(NF1):c.1866T>C (p.Cys622=)
|
rs753245823
|
|
NM_001042492.3(NF1):c.1868A>G (p.His623Arg)
|
rs1555613555
|
|
NM_001042492.3(NF1):c.1869C>T (p.His623=)
|
rs1555613556
|
|
NM_001042492.3(NF1):c.1887G>A (p.Gly629=)
|
rs1555613561
|
|
NM_001042492.3(NF1):c.1889T>A (p.Val630Glu)
|
rs1135402824
|
|
NM_001042492.3(NF1):c.1890A>G (p.Val630=)
|
rs2144026306
|
|
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.1902T>A (p.Ile634=)
|
rs1555613566
|
|
NM_001042492.3(NF1):c.1905T>C (p.Pro635=)
|
|
|
NM_001042492.3(NF1):c.1908T>C (p.Ser636=)
|
rs2144026596
|
|
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.192T>C (p.Asn64=)
|
|
|
NM_001042492.3(NF1):c.1938T>C (p.Asp646=)
|
rs876658620
|
|
NM_001042492.3(NF1):c.1941T>C (p.His647=)
|
rs1397958327
|
|
NM_001042492.3(NF1):c.1947A>G (p.Glu649=)
|
|
|
NM_001042492.3(NF1):c.1948T>C (p.Leu650=)
|
rs1597710638
|
|
NM_001042492.3(NF1):c.1950A>G (p.Leu650=)
|
rs1597710650
|
|
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.1962T>C (p.Pro654=)
|
rs1555613595
|
|
NM_001042492.3(NF1):c.1962T>G (p.Pro654=)
|
rs1555613595
|
|
NM_001042492.3(NF1):c.1965A>G (p.Gly655=)
|
rs2144027490
|
|
NM_001042492.3(NF1):c.1968C>T (p.Ala656=)
|
rs2144027539
|
|
NM_001042492.3(NF1):c.1977G>A (p.Arg659=)
|
rs1597710788
|
|
NM_001042492.3(NF1):c.1983A>G (p.Gly661=)
|
|
|
NM_001042492.3(NF1):c.1986A>G (p.Lys662=)
|
rs2144027825
|
|
NM_001042492.3(NF1):c.1989G>A (p.Gly663=)
|
|
|
NM_001042492.3(NF1):c.1992C>T (p.Asn664=)
|
rs2144027926
|
|
NM_001042492.3(NF1):c.1998T>C (p.Ser666=)
|
rs1567846823
|
|
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+17C>T
|
|
|
NM_001042492.3(NF1):c.2001+18T>C
|
rs779458748
|
|
NM_001042492.3(NF1):c.2001+3C>G
|
rs876659863
|
|
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>G
|
rs2144028166
|
|
NM_001042492.3(NF1):c.2002-12C>G
|
|
|
NM_001042492.3(NF1):c.2002-13C>A
|
rs2067014254
|
|
NM_001042492.3(NF1):c.2002-15A>C
|
rs2151425460
|
|
NM_001042492.3(NF1):c.2002-16C>T
|
rs2151425455
|
|
NM_001042492.3(NF1):c.2002-4_2002-3del
|
rs786203664
|
|
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.2002-8A>G
|
rs1318674321
|
|
NM_001042492.3(NF1):c.2007T>C (p.Ser669=)
|
rs750622783
|
|
NM_001042492.3(NF1):c.2013A>G (p.Ala671=)
|
rs786203349
|
|
NM_001042492.3(NF1):c.2016A>G (p.Gly672=)
|
|
|
NM_001042492.3(NF1):c.2025A>G (p.Gly675=)
|
|
|
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.2031C>G (p.Pro677=)
|
rs753177596
|
|
NM_001042492.3(NF1):c.2032C>T (p.Pro678Ser)
|
rs758691069
|
|
NM_001042492.3(NF1):c.2033_2034delinsTA (p.Pro678Leu)
|
rs1597712334
|
|
NM_001042492.3(NF1):c.2034G>T (p.Pro678=)
|
rs2285892
|
|
NM_001042492.3(NF1):c.204+7A>G
|
rs748105842
|
|
NM_001042492.3(NF1):c.204+9T>C
|
rs771989896
|
|
NM_001042492.3(NF1):c.2046A>G (p.Gln682=)
|
rs2067016407
|
|
NM_001042492.3(NF1):c.205-11T>C
|
|
|
NM_001042492.3(NF1):c.205-14A>G
|
|
|
NM_001042492.3(NF1):c.205-16A>G
|
rs2143645089
|
|
NM_001042492.3(NF1):c.205-19T>C
|
rs1597629649
|
|
NM_001042492.3(NF1):c.205-7C>T
|
rs1597629659
|
|
NM_001042492.3(NF1):c.205-9T>C
|
|
|
NM_001042492.3(NF1):c.2052G>A (p.Gln684=)
|
rs2151425654
|
|
NM_001042492.3(NF1):c.2059C>T (p.Leu687=)
|
rs1597712422
|
|
NM_001042492.3(NF1):c.2061A>C (p.Leu687=)
|
rs143671377
|
|
NM_001042492.3(NF1):c.2070C>T (p.Ala690=)
|
rs2151425696
|
|
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.2083C>T (p.Leu695=)
|
rs2151425744
|
|
NM_001042492.3(NF1):c.2085G>A (p.Leu695=)
|
rs1060503889
|
|
NM_001042492.3(NF1):c.2094T>C (p.Pro698=)
|
rs1555613798
|
|
NM_001042492.3(NF1):c.2103A>G (p.Glu701=)
|
rs2151425793
|
|
NM_001042492.3(NF1):c.210A>T (p.Ile70=)
|
rs2143645399
|
|
NM_001042492.3(NF1):c.2112G>A (p.Leu704=)
|
|
|
NM_001042492.3(NF1):c.2115T>C (p.Val705=)
|
|
|
NM_001042492.3(NF1):c.2124C>G (p.Ser708=)
|
|
|
NM_001042492.3(NF1):c.2124C>T (p.Ser708=)
|
rs1406726344
|
|
NM_001042492.3(NF1):c.2130C>T (p.Phe710=)
|
rs1555613806
|
|
NM_001042492.3(NF1):c.2136C>T (p.His712=)
|
rs1597712580
|
|
NM_001042492.3(NF1):c.2142T>C (p.Cys714=)
|
rs141382637
|
|
NM_001042492.3(NF1):c.2145G>A (p.Glu715=)
|
rs2067018804
|
|
NM_001042492.3(NF1):c.2158C>A (p.Arg720=)
|
rs759679443
|
|
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.2166G>A (p.Gly722=)
|
|
|
NM_001042492.3(NF1):c.2169G>A (p.Val723=)
|
rs2151425959
|
|
NM_001042492.3(NF1):c.2175A>G (p.Glu725=)
|
rs1555613817
|
|
NM_001042492.3(NF1):c.2184G>C (p.Val728=)
|
|
|
NM_001042492.3(NF1):c.2184G>T (p.Val728=)
|
rs2151426004
|
|
NM_001042492.3(NF1):c.2190C>T (p.Asn730=)
|
rs1176754107
|
|
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.2199C>A (p.Pro733=)
|
rs1555613826
|
|
NM_001042492.3(NF1):c.2199C>T (p.Pro733=)
|
rs1555613826
|
|
NM_001042492.3(NF1):c.2202C>T (p.Asn734=)
|
rs2067019953
|
|
NM_001042492.3(NF1):c.2208C>T (p.Asn736=)
|
rs1597712710
|
|
NM_001042492.3(NF1):c.2220G>A (p.Glu740=)
|
rs2067020397
|
|
NM_001042492.3(NF1):c.2226C>G (p.Ala742=)
|
rs1060503912
|
|
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.2235C>T (p.Ser745=)
|
rs1060503901
|
|
NM_001042492.3(NF1):c.2247A>G (p.Ser749=)
|
|
|
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+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+8T>G
|
rs2151426190
|
|
NM_001042492.3(NF1):c.2251+9G>A
|
rs772014402
|
|
NM_001042492.3(NF1):c.2251+9G>C
|
rs772014402
|
|
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.2252-15G>A
|
rs1225348649
|
|
NM_001042492.3(NF1):c.2252-15G>C
|
|
|
NM_001042492.3(NF1):c.2252-18G>C
|
rs754583248
|
|
NM_001042492.3(NF1):c.2252-6G>A
|
|
|
NM_001042492.3(NF1):c.2256A>G (p.Arg752=)
|
rs2067030522
|
|
NM_001042492.3(NF1):c.2271A>G (p.Lys757=)
|
rs1555613916
|
|
NM_001042492.3(NF1):c.2284C>T (p.Leu762=)
|
rs370762336
|
|
NM_001042492.3(NF1):c.2286G>A (p.Leu762=)
|
rs876660624
|
|
NM_001042492.3(NF1):c.228A>G (p.Glu76=)
|
rs2143645674
|
|
NM_001042492.3(NF1):c.2304T>C (p.His768=)
|
rs1597713390
|
|
NM_001042492.3(NF1):c.2310T>C (p.Thr770=)
|
rs2151426973
|
|
NM_001042492.3(NF1):c.2316A>G (p.Gly772=)
|
rs2151426988
|
|
NM_001042492.3(NF1):c.231A>G (p.Lys77=)
|
rs373563053
|
|
NM_001042492.3(NF1):c.2322T>C (p.Thr774=)
|
rs770111990
|
|
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+20A>G
|
|
|
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.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.2326-16A>T
|
|
|
NM_001042492.3(NF1):c.2326-7A>G
|
rs2151427420
|
|
NM_001042492.3(NF1):c.2326-8C>T
|
rs878853874
|
|
NM_001042492.3(NF1):c.2328T>G (p.Ala776=)
|
rs1555613978
|
|
NM_001042492.3(NF1):c.2334A>G (p.Glu778=)
|
|
|
NM_001042492.3(NF1):c.2343T>C (p.His781=)
|
|
|
NM_001042492.3(NF1):c.2346A>G (p.Ala782=)
|
rs1201234374
|
|
NM_001042492.3(NF1):c.2358A>G (p.Gln786=)
|
rs762346437
|
|
NM_001042492.3(NF1):c.2367G>A (p.Lys789=)
|
rs2151427523
|
|
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.2379C>T (p.Asn793=)
|
rs1555614006
|
|
NM_001042492.3(NF1):c.237A>G (p.Leu79=)
|
rs752208826
|
|
NM_001042492.3(NF1):c.2382T>C (p.Tyr794=)
|
rs2151427564
|
|
NM_001042492.3(NF1):c.2385A>G (p.Pro795=)
|
rs1555614009
|
|
NM_001042492.3(NF1):c.2391C>G (p.Ala797=)
|
|
|
NM_001042492.3(NF1):c.2394A>G (p.Lys798=)
|
rs1597713814
|
|
NM_001042492.3(NF1):c.2400A>G (p.Glu800=)
|
rs2151427602
|
|
NM_001042492.3(NF1):c.2409+11A>G
|
|
|
NM_001042492.3(NF1):c.2409+15T>C
|
rs2067039946
|
|
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+7C>G
|
|
|
NM_001042492.3(NF1):c.2409+8T>G
|
rs2151427664
|
|
NM_001042492.3(NF1):c.2409+9G>C
|
|
|
NM_001042492.3(NF1):c.2410-12T>C
|
rs876657932
|
|
NM_001042492.3(NF1):c.2410-13A>T
|
rs1567848711
|
|
NM_001042492.3(NF1):c.2410-4T>G
|
rs2151428759
|
|
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.2412T>C (p.Ala804=)
|
rs2151428788
|
|
NM_001042492.3(NF1):c.2415T>C (p.Ala805=)
|
|
|
NM_001042492.3(NF1):c.2415T>G (p.Ala805=)
|
rs1555614182
|
|
NM_001042492.3(NF1):c.2421C>T (p.Ser807=)
|
rs771345891
|
|
NM_001042492.3(NF1):c.2427C>T (p.His809=)
|
|
|
NM_001042492.3(NF1):c.2433C>G (p.Thr811=)
|
|
|
NM_001042492.3(NF1):c.2436T>C (p.Ile812=)
|
|
|
NM_001042492.3(NF1):c.243C>G (p.Leu81=)
|
|
|
NM_001042492.3(NF1):c.243C>T (p.Leu81=)
|
rs1597629805
|
|
NM_001042492.3(NF1):c.2445G>A (p.Arg815=)
|
rs1555614186
|
|
NM_001042492.3(NF1):c.2448A>C (p.Arg816=)
|
rs2151428883
|
|
NM_001042492.3(NF1):c.2457T>C (p.His819=)
|
rs976466916
|
|
NM_001042492.3(NF1):c.2460G>A (p.Val820=)
|
rs1216764866
|
|
NM_001042492.3(NF1):c.2466A>C (p.Gly822=)
|
rs1555614200
|
|
NM_001042492.3(NF1):c.246T>G (p.Ser82=)
|
|
|
NM_001042492.3(NF1):c.2472A>T (p.Gly824=)
|
rs2151428931
|
|
NM_001042492.3(NF1):c.2475C>T (p.Ser825=)
|
rs1597715206
|
|
NM_001042492.3(NF1):c.2493A>G (p.Thr831=)
|
|
|
NM_001042492.3(NF1):c.2499C>A (p.Ser833=)
|
rs2067066249
|
|
NM_001042492.3(NF1):c.2499C>T (p.Ser833=)
|
rs2067066249
|
|
NM_001042492.3(NF1):c.24A>G (p.Glu8=)
|
|
|
NM_001042492.3(NF1):c.2500C>T (p.Leu834=)
|
rs1597715242
|
|
NM_001042492.3(NF1):c.2508A>G (p.Glu836=)
|
rs1555614208
|
|
NM_001042492.3(NF1):c.2514C>T (p.Ile838=)
|
rs863224352
|
|
NM_001042492.3(NF1):c.2523T>G (p.Thr841=)
|
rs1597715281
|
|
NM_001042492.3(NF1):c.2526C>T (p.Gly842=)
|
|
|
NM_001042492.3(NF1):c.2529C>T (p.Phe843=)
|
|
|
NM_001042492.3(NF1):c.2532T>C (p.Leu844=)
|
rs2151429065
|
|
NM_001042492.3(NF1):c.2532T>G (p.Leu844=)
|
|
|
NM_001042492.3(NF1):c.2550G>A (p.Val850=)
|
rs772148227
|
|
NM_001042492.3(NF1):c.255T>C (p.Ile85=)
|
|
|
NM_001042492.3(NF1):c.2562G>A (p.Gln854=)
|
|
|
NM_001042492.3(NF1):c.2577C>A (p.Gly859=)
|
rs746208651
|
|
NM_001042492.3(NF1):c.2578C>T (p.Leu860=)
|
rs1597715404
|
|
NM_001042492.3(NF1):c.2583A>G (p.Ala861=)
|
rs1060503891
|
|
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.2589T>C (p.Tyr863=)
|
rs587782814
|
|
NM_001042492.3(NF1):c.2625T>C (p.Gly875=)
|
|
|
NM_001042492.3(NF1):c.2634T>A (p.Ile878=)
|
rs758576740
|
|
NM_001042492.3(NF1):c.2637A>G (p.Ser879=)
|
rs1555614288
|
|
NM_001042492.3(NF1):c.2649A>G (p.Ser883=)
|
rs2067070240
|
|
NM_001042492.3(NF1):c.2652G>A (p.Glu884=)
|
rs757843283
|
|
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.2670T>A (p.Pro890=)
|
|
|
NM_001042492.3(NF1):c.2679A>G (p.Lys893=)
|
|
|
NM_001042492.3(NF1):c.267A>C (p.Thr89=)
|
rs1597629858
|
|
NM_001042492.3(NF1):c.267A>T (p.Thr89=)
|
|
|
NM_001042492.3(NF1):c.2685G>A (p.Met895Ile)
|
rs770295902
|
|
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.2700C>A (p.Ser900=)
|
|
|
NM_001042492.3(NF1):c.2700C>T (p.Ser900=)
|
|
|
NM_001042492.3(NF1):c.2703A>G (p.Leu901=)
|
rs2151429478
|
|
NM_001042492.3(NF1):c.2709G>T (p.Val903=)
|
rs771820789
|
|
NM_001042492.3(NF1):c.270G>C (p.Leu90=)
|
rs2065717955
|
|
NM_001042492.3(NF1):c.2718T>C (p.His906=)
|
|
|
NM_001042492.3(NF1):c.2721G>A (p.Glu907=)
|
rs2151429514
|
|
NM_001042492.3(NF1):c.2724A>G (p.Lys908=)
|
rs2151429525
|
|
NM_001042492.3(NF1):c.2727G>A (p.Val909=)
|
rs2151429530
|
|
NM_001042492.3(NF1):c.2730A>G (p.Gly910=)
|
|
|
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.2745C>A (p.Thr915=)
|
rs759465116
|
|
NM_001042492.3(NF1):c.2754G>A (p.Lys918=)
|
rs1555614330
|
|
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.2763G>A (p.Val921=)
|
rs1597715725
|
|
NM_001042492.3(NF1):c.2766T>G (p.Gly922=)
|
|
|
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.2772A>G (p.Glu924=)
|
|
|
NM_001042492.3(NF1):c.2773T>C (p.Leu925=)
|
rs2151429634
|
|
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.2784T>C (p.Ala928=)
|
rs2151429665
|
|
NM_001042492.3(NF1):c.2799A>G (p.Leu933=)
|
rs1597715783
|
|
NM_001042492.3(NF1):c.279T>C (p.Cys93=)
|
rs1597629882
|
|
NM_001042492.3(NF1):c.2805C>T (p.Asn935=)
|
rs1060503894
|
|
NM_001042492.3(NF1):c.2809T>C (p.Leu937=)
|
|
|
NM_001042492.3(NF1):c.2811G>A (p.Leu937=)
|
|
|
NM_001042492.3(NF1):c.2817T>C (p.Asn939=)
|
rs2151429754
|
|
NM_001042492.3(NF1):c.2820C>G (p.Thr940=)
|
|
|
NM_001042492.3(NF1):c.2820C>T (p.Thr940=)
|
rs1597715827
|
|
NM_001042492.3(NF1):c.2829G>A (p.Lys943=)
|
rs1555614351
|
|
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.2847A>G (p.Gly949=)
|
rs1555614361
|
|
NM_001042492.3(NF1):c.2850+10TC[3]
|
rs2151429886
|
|
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+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.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.2851-15T>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.2851-20T>C
|
|
|
NM_001042492.3(NF1):c.2851-21_2851-17del
|
rs758020046
|
|
NM_001042492.3(NF1):c.2851-3del
|
rs876660379
|
|
NM_001042492.3(NF1):c.2851-6C>T
|
rs2151430447
|
|
NM_001042492.3(NF1):c.2851-7T>C
|
rs2151430446
|
|
NM_001042492.3(NF1):c.2856A>G (p.Leu952=)
|
rs750488772
|
|
NM_001042492.3(NF1):c.2857T>C (p.Leu953=)
|
rs2151430478
|
|
NM_001042492.3(NF1):c.2862T>A (p.Thr954=)
|
|
|
NM_001042492.3(NF1):c.2865T>C (p.Asp955=)
|
|
|
NM_001042492.3(NF1):c.2868C>T (p.Thr956=)
|
rs1597716290
|
|
NM_001042492.3(NF1):c.2871T>C (p.Asn957=)
|
rs2151430517
|
|
NM_001042492.3(NF1):c.288+10T>A
|
rs1364620059
|
|
NM_001042492.3(NF1):c.288+10T>G
|
rs1364620059
|
|
NM_001042492.3(NF1):c.288+18A>G
|
|
|
NM_001042492.3(NF1):c.288+19A>C
|
|
|
NM_001042492.3(NF1):c.288+20G>A
|
|
|
NM_001042492.3(NF1):c.2883A>G (p.Val961=)
|
rs2151430557
|
|
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.289-4T>A
|
rs1258767746
|
|
NM_001042492.3(NF1):c.289-6T>C
|
rs757074803
|
|
NM_001042492.3(NF1):c.289-8T>A
|
rs2143669988
|
|
NM_001042492.3(NF1):c.289-9C>T
|
rs2143669962
|
|
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.2895A>C (p.Ile965=)
|
rs1597716325
|
|
NM_001042492.3(NF1):c.2911T>C (p.Leu971=)
|
|
|
NM_001042492.3(NF1):c.2913G>A (p.Leu971=)
|
|
|
NM_001042492.3(NF1):c.2914C>T (p.Leu972=)
|
rs2067083880
|
|
NM_001042492.3(NF1):c.291A>G (p.Gln97=)
|
rs1555606044
|
|
NM_001042492.3(NF1):c.2925T>C (p.His975=)
|
|
|
NM_001042492.3(NF1):c.2928T>C (p.Thr976=)
|
rs1555614446
|
|
NM_001042492.3(NF1):c.2931A>G (p.Glu977=)
|
rs1555614447
|
|
NM_001042492.3(NF1):c.2937C>T (p.Ser979=)
|
rs2151430707
|
|
NM_001042492.3(NF1):c.2940T>G (p.Ser980=)
|
|
|
NM_001042492.3(NF1):c.2946T>C (p.His982=)
|
|
|
NM_001042492.3(NF1):c.2949A>G (p.Leu983=)
|
rs1555614452
|
|
NM_001042492.3(NF1):c.2955A>G (p.Gln985=)
|
|
|
NM_001042492.3(NF1):c.2967A>G (p.Glu989=)
|
|
|
NM_001042492.3(NF1):c.2977T>C (p.Leu993=)
|
rs1597716461
|
|
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+4_2990+7dup
|
|
|
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.2991-10G>T
|
|
|
NM_001042492.3(NF1):c.2991-12A>C
|
rs760838737
|
|
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.2991-20T>A
|
|
|
NM_001042492.3(NF1):c.2991-20T>C
|
rs374614629
|
|
NM_001042492.3(NF1):c.2991-7T>C
|
|
|
NM_001042492.3(NF1):c.2991-8C>T
|
rs2067089793
|
|
NM_001042492.3(NF1):c.2994T>C (p.Tyr998=)
|
rs1188437940
|
|
NM_001042492.3(NF1):c.3003G>A (p.Val1001=)
|
rs2151431493
|
|
NM_001042492.3(NF1):c.3003G>T (p.Val1001=)
|
|
|
NM_001042492.3(NF1):c.3006T>C (p.Leu1002=)
|
rs2151431504
|
|
NM_001042492.3(NF1):c.3009G>A (p.Gly1003=)
|
rs780895334
|
|
NM_001042492.3(NF1):c.3030A>G (p.Gln1010=)
|
rs1405071456
|
|
NM_001042492.3(NF1):c.303A>G (p.Thr101=)
|
rs1597635650
|
|
NM_001042492.3(NF1):c.3045G>C (p.Leu1015=)
|
rs926335233
|
|
NM_001042492.3(NF1):c.3051A>G (p.Gln1017=)
|
rs201891488
|
|
NM_001042492.3(NF1):c.3072A>C (p.Ala1024=)
|
rs2151431674
|
|
NM_001042492.3(NF1):c.3081T>C (p.Asp1027=)
|
rs1555614532
|
|
NM_001042492.3(NF1):c.3084C>T (p.Asp1028=)
|
rs1235103530
|
|
NM_001042492.3(NF1):c.3090A>G (p.Ser1030=)
|
|
|
NM_001042492.3(NF1):c.3093T>C (p.Phe1031=)
|
rs2067092711
|
|
NM_001042492.3(NF1):c.3096C>T (p.Cys1032=)
|
|
|
NM_001042492.3(NF1):c.309A>G (p.Arg103=)
|
|
|
NM_001042492.3(NF1):c.30C>T (p.Val10=)
|
|
|
NM_001042492.3(NF1):c.3102G>A (p.Glu1034=)
|
rs1555614536
|
|
NM_001042492.3(NF1):c.310T>C (p.Leu104=)
|
|
|
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+20A>G
|
rs766592735
|
|
NM_001042492.3(NF1):c.3113+8C>A
|
|
|
NM_001042492.3(NF1):c.3114-10C>T
|
rs2151432319
|
|
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.3114-4A>C
|
rs201550230
|
|
NM_001042492.3(NF1):c.3114-4A>T
|
rs201550230
|
|
NM_001042492.3(NF1):c.3114-6C>T
|
|
|
NM_001042492.3(NF1):c.3114-9A>G
|
|
|
NM_001042492.3(NF1):c.3114-9A>T
|
|
|
NM_001042492.3(NF1):c.3120G>A (p.Lys1040=)
|
|
|
NM_001042492.3(NF1):c.3126A>G (p.Val1042=)
|
rs2151432376
|
|
NM_001042492.3(NF1):c.3129A>G (p.Glu1043=)
|
rs1597717530
|
|
NM_001042492.3(NF1):c.3133C>T (p.Leu1045=)
|
rs1555614626
|
|
NM_001042492.3(NF1):c.3138A>G (p.Thr1046=)
|
rs2151432405
|
|
NM_001042492.3(NF1):c.3156A>C (p.Thr1052=)
|
|
|
NM_001042492.3(NF1):c.3156A>G (p.Thr1052=)
|
rs1597717604
|
|
NM_001042492.3(NF1):c.3162C>T (p.Asn1054=)
|
rs2151432466
|
|
NM_001042492.3(NF1):c.3165A>G (p.Gln1055=)
|
|
|
NM_001042492.3(NF1):c.3168A>G (p.Ala1056=)
|
rs2067102179
|
|
NM_001042492.3(NF1):c.3171A>G (p.Ala1057=)
|
rs2067102269
|
|
NM_001042492.3(NF1):c.3180T>C (p.Asp1060=)
|
rs1555614646
|
|
NM_001042492.3(NF1):c.3183A>G (p.Val1061=)
|
rs2151432519
|
|
NM_001042492.3(NF1):c.3186A>G (p.Lys1062=)
|
rs2151432524
|
|
NM_001042492.3(NF1):c.318A>G (p.Glu106=)
|
rs2143670842
|
|
NM_001042492.3(NF1):c.3192T>C (p.Leu1064=)
|
rs1555614649
|
|
NM_001042492.3(NF1):c.3195A>G (p.Thr1065=)
|
rs1555614650
|
|
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+20C>A
|
|
|
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.3198-10_3198-4del
|
rs371047262
|
|
NM_001042492.3(NF1):c.3198-314G>T
|
|
|
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_3198-3insTTTC
|
rs864622717
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insTTTTTC
|
rs864622717
|
|
NM_001042492.3(NF1):c.3198-5T>G
|
rs587782639
|
|
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_3198-6insG
|
|
|
NM_001042492.3(NF1):c.3198-8T>G
|
rs2067120553
|
|
NM_001042492.3(NF1):c.3198-9T>G
|
rs1316749264
|
|
NM_001042492.3(NF1):c.3198A>G (p.Arg1066=)
|
rs864622469
|
|
NM_001042492.3(NF1):c.3199G>T (p.Asp1067Tyr)
|
rs1597718721
|
|
NM_001042492.3(NF1):c.3204G>T (p.Leu1068Phe)
|
rs1258842007
|
|
NM_001042492.3(NF1):c.3213A>G (p.Ala1071=)
|
rs786202077
|
|
NM_001042492.3(NF1):c.321G>T (p.Thr107=)
|
|
|
NM_001042492.3(NF1):c.3222A>G (p.Glu1074=)
|
rs2151433705
|
|
NM_001042492.3(NF1):c.3225A>G (p.Ala1075=)
|
rs746022492
|
|
NM_001042492.3(NF1):c.3231T>A (p.Val1077=)
|
rs2151433723
|
|
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.3238C>T (p.Leu1080=)
|
rs1555614832
|
|
NM_001042492.3(NF1):c.3243T>A (p.Ala1081=)
|
rs1567850679
|
|
NM_001042492.3(NF1):c.3246T>A (p.Gly1082=)
|
rs876660670
|
|
NM_001042492.3(NF1):c.3249C>T (p.Leu1083=)
|
|
|
NM_001042492.3(NF1):c.3252T>C (p.Pro1084=)
|
rs2151433765
|
|
NM_001042492.3(NF1):c.3255G>A (p.Leu1085=)
|
|
|
NM_001042492.3(NF1):c.3258G>A (p.Gln1086=)
|
rs876660736
|
|
NM_001042492.3(NF1):c.325C>T (p.Leu109=)
|
|
|
NM_001042492.3(NF1):c.3267A>G (p.Glu1089=)
|
rs1156280518
|
|
NM_001042492.3(NF1):c.3273T>C (p.Asp1091=)
|
rs1131691124
|
|
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.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.3283T>C (p.Leu1095=)
|
rs1597718850
|
|
NM_001042492.3(NF1):c.3297A>G (p.Lys1099=)
|
|
|
NM_001042492.3(NF1):c.3300A>G (p.Ser1100=)
|
rs1060503915
|
|
NM_001042492.3(NF1):c.3309T>C (p.Phe1103=)
|
rs2151433905
|
|
NM_001042492.3(NF1):c.3314+8T>G
|
|
|
NM_001042492.3(NF1):c.3315-10T>C
|
rs759279011
|
|
NM_001042492.3(NF1):c.3315-11_3315-10del
|
rs892809261
|
|
NM_001042492.3(NF1):c.3315-18A>G
|
rs2067133614
|
|
NM_001042492.3(NF1):c.3315-19C>T
|
|
|
NM_001042492.3(NF1):c.3315-20T>C
|
|
|
NM_001042492.3(NF1):c.3315-20T>G
|
rs558019436
|
|
NM_001042492.3(NF1):c.3315-6T>C
|
rs2151434424
|
|
NM_001042492.3(NF1):c.3318C>T (p.Tyr1106=)
|
rs876659289
|
|
NM_001042492.3(NF1):c.3325T>C (p.Leu1109=)
|
|
|
NM_001042492.3(NF1):c.3336C>T (p.Asn1112=)
|
rs1060500262
|
|
NM_001042492.3(NF1):c.3339T>G (p.Leu1113=)
|
|
|
NM_001042492.3(NF1):c.3340T>C (p.Leu1114=)
|
rs1555614928
|
|
NM_001042492.3(NF1):c.3354T>C (p.Ser1118=)
|
rs2151434529
|
|
NM_001042492.3(NF1):c.3360T>C (p.Val1120=)
|
|
|
NM_001042492.3(NF1):c.3363A>G (p.Glu1121=)
|
rs2151434555
|
|
NM_001042492.3(NF1):c.3366T>C (p.Asp1122=)
|
rs1597719465
|
|
NM_001042492.3(NF1):c.3372T>C (p.Ser1124=)
|
|
|
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.3384T>C (p.Gly1128=)
|
|
|
NM_001042492.3(NF1):c.3396T>C (p.Arg1132=)
|
|
|
NM_001042492.3(NF1):c.3405T>G (p.Ser1135=)
|
rs2151434652
|
|
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.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.3426G>A (p.Arg1142=)
|
rs1597719572
|
|
NM_001042492.3(NF1):c.3429C>T (p.His1143=)
|
|
|
NM_001042492.3(NF1):c.3435G>A (p.Thr1145=)
|
rs772432150
|
|
NM_001042492.3(NF1):c.3435G>T (p.Thr1145=)
|
rs772432150
|
|
NM_001042492.3(NF1):c.3438C>T (p.Val1146=)
|
rs876659646
|
|
NM_001042492.3(NF1):c.3453C>T (p.Asn1151=)
|
rs2151434768
|
|
NM_001042492.3(NF1):c.3459C>T (p.Leu1153=)
|
rs2151434787
|
|
NM_001042492.3(NF1):c.3483C>A (p.Leu1161=)
|
rs1597719677
|
|
NM_001042492.3(NF1):c.3483C>T (p.Leu1161=)
|
|
|
NM_001042492.3(NF1):c.3492C>T (p.Ser1164=)
|
rs370206701
|
|
NM_001042492.3(NF1):c.3496+11A>G
|
rs2151434924
|
|
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+20del
|
|
|
NM_001042492.3(NF1):c.3496+7T>C
|
rs1060503921
|
|
NM_001042492.3(NF1):c.3496+8C>G
|
|
|
NM_001042492.3(NF1):c.3497-12T>A
|
rs753605564
|
|
NM_001042492.3(NF1):c.3497-12T>G
|
|
|
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.3497-5A>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.3498C>G (p.Gly1166=)
|
|
|
NM_001042492.3(NF1):c.3513G>A (p.Lys1171=)
|
rs765438014
|
|
NM_001042492.3(NF1):c.3519C>T (p.Leu1173=)
|
rs1555615020
|
|
NM_001042492.3(NF1):c.3531T>C (p.Ala1177=)
|
|
|
NM_001042492.3(NF1):c.3534A>G (p.Thr1178=)
|
rs876658210
|
|
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.3555A>G (p.Lys1185=)
|
|
|
NM_001042492.3(NF1):c.357T>C (p.His119=)
|
|
|
NM_001042492.3(NF1):c.3582C>T (p.Asp1194=)
|
rs1555615036
|
|
NM_001042492.3(NF1):c.3591A>G (p.Ala1197=)
|
rs2151435527
|
|
NM_001042492.3(NF1):c.3600A>G (p.Val1200=)
|
rs2151435557
|
|
NM_001042492.3(NF1):c.3600A>T (p.Val1200=)
|
|
|
NM_001042492.3(NF1):c.360T>C (p.Phe120=)
|
rs1597635781
|
|
NM_001042492.3(NF1):c.3610C>A (p.Arg1204=)
|
rs199474732
|
|
NM_001042492.3(NF1):c.3622T>C (p.Leu1208=)
|
rs2151435620
|
|
NM_001042492.3(NF1):c.3624G>A (p.Leu1208=)
|
rs1597720089
|
|
NM_001042492.3(NF1):c.3627G>A (p.Val1209=)
|
|
|
NM_001042492.3(NF1):c.3636C>T (p.Val1212=)
|
rs145126193
|
|
NM_001042492.3(NF1):c.3639A>G (p.Thr1213=)
|
rs1555615069
|
|
NM_001042492.3(NF1):c.3648T>A (p.Gly1216=)
|
rs1060503897
|
|
NM_001042492.3(NF1):c.3651T>C (p.Asp1217=)
|
|
|
NM_001042492.3(NF1):c.3660A>G (p.Glu1220=)
|
rs1597720161
|
|
NM_001042492.3(NF1):c.3663C>T (p.Leu1221=)
|
rs771507034
|
|
NM_001042492.3(NF1):c.3666T>C (p.Pro1222=)
|
|
|
NM_001042492.3(NF1):c.3672G>C (p.Ala1224=)
|
|
|
NM_001042492.3(NF1):c.3687T>C (p.Asn1229=)
|
rs752937870
|
|
NM_001042492.3(NF1):c.3690G>A (p.Val1230=)
|
rs183296277
|
|
NM_001042492.3(NF1):c.3696T>A (p.Pro1232=)
|
rs1168798963
|
|
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.36C>A (p.Ala12=)
|
rs786203866
|
|
NM_001042492.3(NF1):c.36C>G (p.Ala12=)
|
rs786203866
|
|
NM_001042492.3(NF1):c.3708+10T>G
|
|
|
NM_001042492.3(NF1):c.3708+12G>C
|
|
|
NM_001042492.3(NF1):c.3708+13A>C
|
rs2151435858
|
|
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+20G>C
|
|
|
NM_001042492.3(NF1):c.3708+7G>A
|
rs1555615115
|
|
NM_001042492.3(NF1):c.3708+8A>G
|
rs1173930586
|
|
NM_001042492.3(NF1):c.3709-10T>C
|
rs878853887
|
|
NM_001042492.3(NF1):c.3709-15T>C
|
|
|
NM_001042492.3(NF1):c.3709-19G>C
|
|
|
NM_001042492.3(NF1):c.3709-20T>C
|
rs2151437644
|
|
NM_001042492.3(NF1):c.3709-20T>G
|
rs2151437644
|
|
NM_001042492.3(NF1):c.3709-5C>T
|
rs1390680821
|
|
NM_001042492.3(NF1):c.3709-6T>C
|
|
|
NM_001042492.3(NF1):c.3709-9T>C
|
|
|
NM_001042492.3(NF1):c.3714A>G (p.Glu1238=)
|
rs1597722384
|
|
NM_001042492.3(NF1):c.3726T>A (p.Val1242=)
|
rs878853888
|
|
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>C (p.Cys124=)
|
rs1555606078
|
|
NM_001042492.3(NF1):c.3738G>C (p.Leu1246=)
|
|
|
NM_001042492.3(NF1):c.3741T>C (p.Phe1247=)
|
|
|
NM_001042492.3(NF1):c.3750G>C (p.Arg1250=)
|
|
|
NM_001042492.3(NF1):c.3756A>G (p.Leu1252=)
|
rs1298630862
|
|
NM_001042492.3(NF1):c.375T>C (p.Arg125=)
|
|
|
NM_001042492.3(NF1):c.3762C>T (p.Tyr1254=)
|
rs2151437835
|
|
NM_001042492.3(NF1):c.3766C>T (p.Leu1256=)
|
rs876659360
|
|
NM_001042492.3(NF1):c.3771C>G (p.Leu1257=)
|
rs2067187244
|
|
NM_001042492.3(NF1):c.3771C>T (p.Leu1257=)
|
|
|
NM_001042492.3(NF1):c.3777C>T (p.Asn1259=)
|
rs2151437873
|
|
NM_001042492.3(NF1):c.3786T>C (p.Ser1262=)
|
rs786201645
|
|
NM_001042492.3(NF1):c.378A>G (p.Glu126=)
|
rs786201914
|
|
NM_001042492.3(NF1):c.3795A>G (p.Val1265=)
|
rs2151437907
|
|
NM_001042492.3(NF1):c.3801G>A (p.Leu1267=)
|
rs786201366
|
|
NM_001042492.3(NF1):c.3804A>T (p.Ala1268=)
|
rs547293714
|
|
NM_001042492.3(NF1):c.3807C>T (p.Asp1269=)
|
|
|
NM_001042492.3(NF1):c.3816G>A (p.Gln1272=)
|
|
|
NM_001042492.3(NF1):c.3826C>A (p.Arg1276=)
|
rs199474742
|
|
NM_001042492.3(NF1):c.3849A>G (p.Lys1283=)
|
rs1597722644
|
|
NM_001042492.3(NF1):c.384C>T (p.Asn128=)
|
rs1597635852
|
|
NM_001042492.3(NF1):c.3861C>T (p.Phe1287=)
|
rs749107019
|
|
NM_001042492.3(NF1):c.3864T>C (p.Cys1288=)
|
rs1555615495
|
|
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+20T>C
|
|
|
NM_001042492.3(NF1):c.3870+4T>C
|
rs1555615499
|
|
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.3871-10A>G
|
rs1597722878
|
|
NM_001042492.3(NF1):c.3871-12G>A
|
|
|
NM_001042492.3(NF1):c.3871-14G>C
|
|
|
NM_001042492.3(NF1):c.3871-14G>T
|
|
|
NM_001042492.3(NF1):c.3871-17T>A
|
|
|
NM_001042492.3(NF1):c.3871-18_3871-17del
|
|
|
NM_001042492.3(NF1):c.3871-20C>T
|
rs778536665
|
|
NM_001042492.3(NF1):c.3871-4G>A
|
rs558421445
|
|
NM_001042492.3(NF1):c.3871-4G>T
|
|
|
NM_001042492.3(NF1):c.3871-8T>A
|
|
|
NM_001042492.3(NF1):c.3873A>G (p.Val1291=)
|
rs1250496630
|
|
NM_001042492.3(NF1):c.3876T>C (p.Tyr1292=)
|
rs2067193414
|
|
NM_001042492.3(NF1):c.387G>A (p.Gln129=)
|
rs1390215440
|
|
NM_001042492.3(NF1):c.3882T>C (p.Ala1294=)
|
|
|
NM_001042492.3(NF1):c.3885C>T (p.Thr1295=)
|
rs773942090
|
|
NM_001042492.3(NF1):c.3888T>C (p.Tyr1296=)
|
|
|
NM_001042492.3(NF1):c.3900C>A (p.Leu1300=)
|
rs1597722945
|
|
NM_001042492.3(NF1):c.3901C>T (p.Leu1301=)
|
rs2151438571
|
|
NM_001042492.3(NF1):c.3903G>A (p.Leu1301=)
|
rs876660789
|
|
NM_001042492.3(NF1):c.3906T>C (p.Asp1302=)
|
rs549058591
|
|
NM_001042492.3(NF1):c.3909T>C (p.Pro1303=)
|
|
|
NM_001042492.3(NF1):c.3924G>A (p.Val1308=)
|
|
|
NM_001042492.3(NF1):c.3924G>T (p.Val1308=)
|
|
|
NM_001042492.3(NF1):c.3930A>T (p.Thr1310=)
|
|
|
NM_001042492.3(NF1):c.3939T>C (p.Asp1313=)
|
rs864622325
|
|
NM_001042492.3(NF1):c.393A>T (p.Ala131=)
|
|
|
NM_001042492.3(NF1):c.394G>A (p.Ala132Thr)
|
|
|
NM_001042492.3(NF1):c.3951T>C (p.Val1317=)
|
rs1597723015
|
|
NM_001042492.3(NF1):c.3960A>G (p.Glu1320=)
|
rs1555615564
|
|
NM_001042492.3(NF1):c.396T>C (p.Ala132=)
|
rs2143672460
|
|
NM_001042492.3(NF1):c.3974+14T>A
|
|
|
NM_001042492.3(NF1):c.3974+14T>C
|
|
|
NM_001042492.3(NF1):c.3974+17C>G
|
rs975843462
|
|
NM_001042492.3(NF1):c.3974+20A>G
|
|
|
NM_001042492.3(NF1):c.3974+7C>T
|
rs2151438718
|
|
NM_001042492.3(NF1):c.3974+8A>G
|
rs2067195955
|
|
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.3975-17T>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.3975-4G>C
|
rs760207624
|
|
NM_001042492.3(NF1):c.3975-4G>T
|
|
|
NM_001042492.3(NF1):c.3975-6T>C
|
|
|
NM_001042492.3(NF1):c.3975-7T>G
|
|
|
NM_001042492.3(NF1):c.3975-9T>A
|
rs2151451257
|
|
NM_001042492.3(NF1):c.3976T>C (p.Leu1326=)
|
rs765957571
|
|
NM_001042492.3(NF1):c.3978A>G (p.Leu1326=)
|
rs876660506
|
|
NM_001042492.3(NF1):c.3981A>G (p.Glu1327=)
|
|
|
NM_001042492.3(NF1):c.3990G>A (p.Glu1330=)
|
rs863224353
|
|
NM_001042492.3(NF1):c.3996T>A (p.Leu1332=)
|
|
|
NM_001042492.3(NF1):c.399A>G (p.Glu133=)
|
rs1597635911
|
|
NM_001042492.3(NF1):c.39G>A (p.Val13=)
|
|
|
NM_001042492.3(NF1):c.39G>T (p.Val13=)
|
|
|
NM_001042492.3(NF1):c.4005C>T (p.Asn1335=)
|
|
|
NM_001042492.3(NF1):c.4009C>A (p.Arg1337=)
|
rs146306756
|
|
NM_001042492.3(NF1):c.4011G>C (p.Arg1337=)
|
rs2067448681
|
|
NM_001042492.3(NF1):c.4017C>A (p.Leu1339=)
|
rs778993658
|
|
NM_001042492.3(NF1):c.4020T>C (p.Leu1340=)
|
rs863224354
|
|
NM_001042492.3(NF1):c.4035G>A (p.Lys1345=)
|
rs2151451447
|
|
NM_001042492.3(NF1):c.4038C>T (p.Phe1346=)
|
|
|
NM_001042492.3(NF1):c.4047C>T (p.Ala1349=)
|
rs752621693
|
|
NM_001042492.3(NF1):c.4050C>T (p.Ile1350=)
|
|
|
NM_001042492.3(NF1):c.4051A>G (p.Ile1351Val)
|
|
|
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.4074C>A (p.Pro1358=)
|
rs757398594
|
|
NM_001042492.3(NF1):c.4074C>G (p.Pro1358=)
|
rs757398594
|
|
NM_001042492.3(NF1):c.4077T>C (p.Pro1359=)
|
rs1555617366
|
|
NM_001042492.3(NF1):c.4080A>G (p.Gln1360=)
|
|
|
NM_001042492.3(NF1):c.4092G>A (p.Val1364=)
|
|
|
NM_001042492.3(NF1):c.4095C>T (p.Cys1365=)
|
rs1060503922
|
|
NM_001042492.3(NF1):c.4098C>T (p.His1366=)
|
|
|
NM_001042492.3(NF1):c.4104A>G (p.Leu1368=)
|
rs2151451667
|
|
NM_001042492.3(NF1):c.4107C>T (p.Tyr1369=)
|
rs1597735272
|
|
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+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+19del
|
|
|
NM_001042492.3(NF1):c.4110+7T>G
|
rs2151451721
|
|
NM_001042492.3(NF1):c.4110+8T>C
|
rs2151451725
|
|
NM_001042492.3(NF1):c.4110+9A>T
|
rs1555617387
|
|
NM_001042492.3(NF1):c.411T>C (p.Ser137=)
|
|
|
NM_001042492.3(NF1):c.414C>T (p.Ala138=)
|
rs1597635949
|
|
NM_001042492.3(NF1):c.4174-10T>C
|
rs1343858579
|
|
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.4174-17C>G
|
rs2151461668
|
|
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.4179T>A (p.Val1393=)
|
rs2151461759
|
|
NM_001042492.3(NF1):c.4185G>A (p.Gln1395=)
|
rs775206746
|
|
NM_001042492.3(NF1):c.4188T>A (p.Arg1396=)
|
rs1555618496
|
|
NM_001042492.3(NF1):c.4200C>T (p.Asn1400=)
|
rs2151461842
|
|
NM_001042492.3(NF1):c.4203C>T (p.Ser1401=)
|
rs991237227
|
|
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.4234A>C (p.Arg1412=)
|
rs1555618515
|
|
NM_001042492.3(NF1):c.4242C>T (p.Ile1414=)
|
rs2151461973
|
|
NM_001042492.3(NF1):c.4251C>T (p.Ala1417=)
|
rs1555618524
|
|
NM_001042492.3(NF1):c.4257C>T (p.Val1419=)
|
rs886038395
|
|
NM_001042492.3(NF1):c.4263G>T (p.Pro1421=)
|
rs201648604
|
|
NM_001042492.3(NF1):c.4266T>C (p.Tyr1422=)
|
|
|
NM_001042492.3(NF1):c.426A>G (p.Leu142=)
|
rs2065794926
|
|
NM_001042492.3(NF1):c.4275G>A (p.Gly1425=)
|
rs1555618548
|
|
NM_001042492.3(NF1):c.4284T>C (p.Asp1428=)
|
rs1555618550
|
|
NM_001042492.3(NF1):c.4287A>G (p.Lys1429=)
|
|
|
NM_001042492.3(NF1):c.4296A>C (p.Pro1432=)
|
rs864622492
|
|
NM_001042492.3(NF1):c.42C>A (p.Val14=)
|
rs755413799
|
|
NM_001042492.3(NF1):c.4302A>G (p.Arg1434=)
|
rs1209779641
|
|
NM_001042492.3(NF1):c.4305C>T (p.Ile1435=)
|
rs779865988
|
|
NM_001042492.3(NF1):c.4311G>A (p.Arg1437=)
|
rs1060503896
|
|
NM_001042492.3(NF1):c.4320G>A (p.Lys1440=)
|
|
|
NM_001042492.3(NF1):c.4321T>C (p.Leu1441=)
|
rs786201458
|
|
NM_001042492.3(NF1):c.4329A>G (p.Ser1443=)
|
|
|
NM_001042492.3(NF1):c.432T>C (p.Ser144=)
|
rs2143673083
|
|
NM_001042492.3(NF1):c.4332+14A>G
|
rs2151462264
|
|
NM_001042492.3(NF1):c.4332+15T>A
|
rs760471835
|
|
NM_001042492.3(NF1):c.4332+20T>C
|
|
|
NM_001042492.3(NF1):c.4332+22_4332+25del
|
rs768273651
|
|
NM_001042492.3(NF1):c.4332+8A>G
|
rs773883353
|
|
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>G
|
rs1193185429
|
|
NM_001042492.3(NF1):c.4333-20A>G
|
rs2151462882
|
|
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.4333-9A>G
|
|
|
NM_001042492.3(NF1):c.4333-9A>T
|
rs2067634979
|
|
NM_001042492.3(NF1):c.4338T>G (p.Leu1446=)
|
rs1597745572
|
|
NM_001042492.3(NF1):c.4344T>C (p.Ser1448=)
|
rs1555618644
|
|
NM_001042492.3(NF1):c.4350C>T (p.Ala1450=)
|
rs752055412
|
|
NM_001042492.3(NF1):c.4356T>C (p.His1452=)
|
rs1391955681
|
|
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.4365C>T (p.Phe1455=)
|
rs1597745625
|
|
NM_001042492.3(NF1):c.4368A>G (p.Thr1456=)
|
rs876659577
|
|
NM_001042492.3(NF1):c.4371A>G (p.Lys1457=)
|
rs1555618658
|
|
NM_001042492.3(NF1):c.4374A>G (p.Glu1458=)
|
rs1597745662
|
|
NM_001042492.3(NF1):c.4380T>C (p.His1460=)
|
rs2151463079
|
|
NM_001042492.3(NF1):c.438C>T (p.Ser146=)
|
rs2143673225
|
|
NM_001042492.3(NF1):c.4392C>T (p.Phe1464=)
|
rs2067638938
|
|
NM_001042492.3(NF1):c.4401T>C (p.Phe1467=)
|
|
|
NM_001042492.3(NF1):c.4407A>G (p.Lys1469=)
|
|
|
NM_001042492.3(NF1):c.4416T>C (p.Phe1472=)
|
|
|
NM_001042492.3(NF1):c.4419T>C (p.Asp1473=)
|
rs2151463195
|
|
NM_001042492.3(NF1):c.4422A>G (p.Ala1474=)
|
|
|
NM_001042492.3(NF1):c.4425A>G (p.Ala1475=)
|
rs1597745756
|
|
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+20_4430+23del
|
rs2151463277
|
|
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.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.4431-16C>G
|
|
|
NM_001042492.3(NF1):c.4431-16C>T
|
rs2151464452
|
|
NM_001042492.3(NF1):c.4431-19T>A
|
|
|
NM_001042492.3(NF1):c.4431-19T>C
|
|
|
NM_001042492.3(NF1):c.4431-4G>C
|
rs2151464485
|
|
NM_001042492.3(NF1):c.4431-6T>C
|
rs2151464480
|
|
NM_001042492.3(NF1):c.4431-8T>C
|
rs1555618801
|
|
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.4452T>C (p.Ser1484=)
|
rs2151464555
|
|
NM_001042492.3(NF1):c.4455T>C (p.Asp1485=)
|
rs186556778
|
|
NM_001042492.3(NF1):c.4467T>C (p.Ser1489=)
|
rs2151464603
|
|
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.4476A>C (p.Val1492=)
|
rs1597746972
|
|
NM_001042492.3(NF1):c.4476A>G (p.Val1492=)
|
rs1597746972
|
|
NM_001042492.3(NF1):c.4479T>C (p.Asn1493=)
|
rs1060503888
|
|
NM_001042492.3(NF1):c.4482T>C (p.His1494=)
|
rs2151464642
|
|
NM_001042492.3(NF1):c.4491C>T (p.Ser1497=)
|
rs1555618826
|
|
NM_001042492.3(NF1):c.4497A>T (p.Ile1499=)
|
rs1597747016
|
|
NM_001042492.3(NF1):c.4500T>C (p.Ser1500=)
|
rs775018971
|
|
NM_001042492.3(NF1):c.4509T>C (p.Asn1503=)
|
|
|
NM_001042492.3(NF1):c.450C>T (p.Phe150=)
|
rs202142624
|
|
NM_001042492.3(NF1):c.4512G>T (p.Val1504=)
|
rs1597747038
|
|
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.4533C>G (p.Leu1511=)
|
rs1462064585
|
|
NM_001042492.3(NF1):c.4545G>A (p.Gln1515=)
|
rs1597747124
|
|
NM_001042492.3(NF1):c.4551A>G (p.Lys1517=)
|
rs2151464808
|
|
NM_001042492.3(NF1):c.4554T>C (p.Ile1518=)
|
rs1597747129
|
|
NM_001042492.3(NF1):c.4557G>A (p.Gly1519=)
|
|
|
NM_001042492.3(NF1):c.4560G>A (p.Gln1520=)
|
rs1555618859
|
|
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.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+20G>A
|
|
|
NM_001042492.3(NF1):c.4577+7T>C
|
rs2151464892
|
|
NM_001042492.3(NF1):c.4577+9del
|
rs772339679
|
|
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.4578-6A>G
|
|
|
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>C
|
|
|
NM_001042492.3(NF1):c.45C>T (p.Ser15=)
|
|
|
NM_001042492.3(NF1):c.4620A>G (p.Ala1540=)
|
rs2151466284
|
|
NM_001042492.3(NF1):c.4623A>C (p.Thr1541=)
|
rs2151466293
|
|
NM_001042492.3(NF1):c.4626T>C (p.Leu1542=)
|
rs1555619012
|
|
NM_001042492.3(NF1):c.4636C>T (p.Leu1546=)
|
rs2151466329
|
|
NM_001042492.3(NF1):c.4638G>T (p.Leu1546=)
|
|
|
NM_001042492.3(NF1):c.4641T>G (p.Gly1547=)
|
rs2151466345
|
|
NM_001042492.3(NF1):c.4647A>G (p.Pro1549=)
|
rs1305841472
|
|
NM_001042492.3(NF1):c.4653C>T (p.His1551=)
|
rs2151466362
|
|
NM_001042492.3(NF1):c.4665A>G (p.Ala1555=)
|
|
|
NM_001042492.3(NF1):c.4671A>T (p.Thr1557=)
|
rs876658990
|
|
NM_001042492.3(NF1):c.4680C>G (p.Ser1560=)
|
|
|
NM_001042492.3(NF1):c.4680C>T (p.Ser1560=)
|
rs2067691696
|
|
NM_001042492.3(NF1):c.4695C>T (p.Thr1565=)
|
rs1555619045
|
|
NM_001042492.3(NF1):c.4698T>C (p.Ser1566=)
|
|
|
NM_001042492.3(NF1):c.4701A>G (p.Ser1567=)
|
rs1597748963
|
|
NM_001042492.3(NF1):c.4704G>A (p.Lys1568=)
|
rs1424931932
|
|
NM_001042492.3(NF1):c.4710G>A (p.Glu1570=)
|
rs1597748978
|
|
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+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+20T>C
|
|
|
NM_001042492.3(NF1):c.4724+20T>G
|
|
|
NM_001042492.3(NF1):c.4724+7T>C
|
rs864622178
|
|
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.4725-16G>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.4725-20C>A
|
|
|
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.4731G>A (p.Gln1577=)
|
rs2067764593
|
|
NM_001042492.3(NF1):c.4752C>T (p.Phe1584=)
|
rs876657545
|
|
NM_001042492.3(NF1):c.4755G>A (p.Lys1585=)
|
|
|
NM_001042492.3(NF1):c.4767G>C (p.Thr1589=)
|
|
|
NM_001042492.3(NF1):c.4770A>G (p.Leu1590=)
|
rs1567865021
|
|
NM_001042492.3(NF1):c.4773T>C (p.Ser1591=)
|
rs2151470160
|
|
NM_001042492.3(NF1):c.4776T>A (p.Ile1592=)
|
rs1346039502
|
|
NM_001042492.3(NF1):c.477C>G (p.Thr159=)
|
|
|
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+5GT[2]
|
rs2143674247
|
|
NM_001042492.3(NF1):c.479+7del
|
|
|
NM_001042492.3(NF1):c.4791G>A (p.Gly1597=)
|
rs1412795566
|
|
NM_001042492.3(NF1):c.480-10T>C
|
rs2143706711
|
|
NM_001042492.3(NF1):c.480-14T>C
|
|
|
NM_001042492.3(NF1):c.480-15G>T
|
|
|
NM_001042492.3(NF1):c.480-4T>C
|
rs1597643710
|
|
NM_001042492.3(NF1):c.480-5T>C
|
rs1555607069
|
|
NM_001042492.3(NF1):c.480-6T>C
|
rs1597643699
|
|
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>T
|
rs1597643692
|
|
NM_001042492.3(NF1):c.480-9A>G
|
|
|
NM_001042492.3(NF1):c.4800A>G (p.Lys1600=)
|
rs1555619409
|
|
NM_001042492.3(NF1):c.4803T>G (p.Ala1601=)
|
rs148662566
|
|
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.4824T>C (p.Tyr1608=)
|
rs1567865089
|
|
NM_001042492.3(NF1):c.4827T>C (p.Val1609=)
|
rs2151470344
|
|
NM_001042492.3(NF1):c.4831C>A (p.Arg1611=)
|
rs1060500316
|
|
NM_001042492.3(NF1):c.4834A>C (p.Arg1612=)
|
rs755137259
|
|
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+16T>A
|
rs1274517950
|
|
NM_001042492.3(NF1):c.4836-10T>A
|
rs878853899
|
|
NM_001042492.3(NF1):c.4836-12C>T
|
|
|
NM_001042492.3(NF1):c.4836-14_4836-6del
|
rs2151537415
|
|
NM_001042492.3(NF1):c.4836-18T>C
|
|
|
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.4845T>C (p.Thr1615=)
|
rs753606794
|
|
NM_001042492.3(NF1):c.4854C>T (p.Ile1618=)
|
rs1268872486
|
|
NM_001042492.3(NF1):c.4867C>T (p.Leu1623=)
|
rs1555533277
|
|
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.4872A>T (p.Ile1624=)
|
rs2151537601
|
|
NM_001042492.3(NF1):c.4875C>T (p.Tyr1625=)
|
|
|
NM_001042492.3(NF1):c.4885C>T (p.Leu1629=)
|
|
|
NM_001042492.3(NF1):c.4890T>C (p.Thr1630=)
|
rs2151537674
|
|
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.4905T>C (p.Tyr1635=)
|
rs948982039
|
|
NM_001042492.3(NF1):c.4923T>C (p.Ile1641=)
|
|
|
NM_001042492.3(NF1):c.4926A>G (p.Val1642=)
|
rs2151537784
|
|
NM_001042492.3(NF1):c.4932C>T (p.Asp1644=)
|
rs1555533304
|
|
NM_001042492.3(NF1):c.4935T>C (p.Leu1645=)
|
rs2151537807
|
|
NM_001042492.3(NF1):c.4938C>T (p.Thr1646=)
|
rs1555533306
|
|
NM_001042492.3(NF1):c.4941T>C (p.His1647=)
|
|
|
NM_001042492.3(NF1):c.4944C>A (p.Thr1648=)
|
|
|
NM_001042492.3(NF1):c.4947G>A (p.Gly1649=)
|
|
|
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.4953C>T (p.Ser1651=)
|
rs941643920
|
|
NM_001042492.3(NF1):c.4956T>C (p.Asn1652=)
|
rs1597829740
|
|
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.4980T>G (p.Ser1660=)
|
rs1597829786
|
|
NM_001042492.3(NF1):c.4983G>A (p.Lys1661=)
|
|
|
NM_001042492.3(NF1):c.4992T>C (p.Val1664=)
|
|
|
NM_001042492.3(NF1):c.5001T>C (p.Pro1667=)
|
rs2151538064
|
|
NM_001042492.3(NF1):c.5010T>C (p.Ala1670=)
|
rs2151538109
|
|
NM_001042492.3(NF1):c.5013C>T (p.Tyr1671=)
|
rs1060500255
|
|
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.5025C>A (p.Ser1675=)
|
rs17878418
|
|
NM_001042492.3(NF1):c.5028A>C (p.Ala1676=)
|
|
|
NM_001042492.3(NF1):c.5031C>T (p.Val1677=)
|
rs2151538196
|
|
NM_001042492.3(NF1):c.5040T>C (p.Tyr1680=)
|
rs1555533351
|
|
NM_001042492.3(NF1):c.5046T>C (p.Cys1682=)
|
rs1597829912
|
|
NM_001042492.3(NF1):c.504A>G (p.Ser168=)
|
rs876658638
|
|
NM_001042492.3(NF1):c.5058C>T (p.Val1686=)
|
rs1315128684
|
|
NM_001042492.3(NF1):c.5061G>A (p.Arg1687=)
|
rs2069332144
|
|
NM_001042492.3(NF1):c.5070C>A (p.Thr1690=)
|
rs2151538356
|
|
NM_001042492.3(NF1):c.5073G>A (p.Lys1691=)
|
rs1597829953
|
|
NM_001042492.3(NF1):c.5079T>C (p.His1693=)
|
|
|
NM_001042492.3(NF1):c.5083C>A (p.Arg1695=)
|
rs1567611500
|
|
NM_001042492.3(NF1):c.5088G>A (p.Leu1696=)
|
rs786203568
|
|
NM_001042492.3(NF1):c.5091G>C (p.Leu1697=)
|
rs876659589
|
|
NM_001042492.3(NF1):c.5100C>G (p.Leu1700=)
|
rs2151538475
|
|
NM_001042492.3(NF1):c.5100C>T (p.Leu1700=)
|
|
|
NM_001042492.3(NF1):c.5106T>C (p.Gly1702=)
|
|
|
NM_001042492.3(NF1):c.5118T>A (p.Leu1706=)
|
rs1597830053
|
|
NM_001042492.3(NF1):c.5121T>A (p.Val1707=)
|
|
|
NM_001042492.3(NF1):c.5133T>C (p.Cys1711=)
|
rs2151538622
|
|
NM_001042492.3(NF1):c.5136T>G (p.Pro1712=)
|
rs2151538643
|
|
NM_001042492.3(NF1):c.5139G>A (p.Gly1713=)
|
rs786202181
|
|
NM_001042492.3(NF1):c.513T>C (p.Asn171=)
|
|
|
NM_001042492.3(NF1):c.5143C>T (p.Leu1715=)
|
rs1597830104
|
|
NM_001042492.3(NF1):c.5148T>C (p.Ala1716=)
|
rs2151538691
|
|
NM_001042492.3(NF1):c.5151G>A (p.Glu1717=)
|
|
|
NM_001042492.3(NF1):c.5154C>T (p.His1718=)
|
rs1597830130
|
|
NM_001042492.3(NF1):c.5163T>C (p.His1721=)
|
rs267604792
|
|
NM_001042492.3(NF1):c.5166A>G (p.Glu1722=)
|
rs1597830174
|
|
NM_001042492.3(NF1):c.5169A>G (p.Gln1723=)
|
rs864622372
|
|
NM_001042492.3(NF1):c.5175A>G (p.Lys1725=)
|
rs1372069749
|
|
NM_001042492.3(NF1):c.5181T>C (p.Pro1727=)
|
rs2151538814
|
|
NM_001042492.3(NF1):c.5181T>G (p.Pro1727=)
|
|
|
NM_001042492.3(NF1):c.5184T>C (p.Ala1728=)
|
rs546932099
|
|
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.519T>C (p.Asp173=)
|
|
|
NM_001042492.3(NF1):c.5208C>T (p.Asp1736=)
|
rs757260226
|
|
NM_001042492.3(NF1):c.5214G>A (p.Lys1738=)
|
|
|
NM_001042492.3(NF1):c.5217A>G (p.Val1739=)
|
rs1228790204
|
|
NM_001042492.3(NF1):c.5226T>C (p.Asn1742=)
|
rs1597830255
|
|
NM_001042492.3(NF1):c.5229T>G (p.Ala1743=)
|
|
|
NM_001042492.3(NF1):c.5232C>G (p.Leu1744=)
|
rs1597830268
|
|
NM_001042492.3(NF1):c.5238A>G (p.Leu1746=)
|
rs779689556
|
|
NM_001042492.3(NF1):c.5244C>T (p.His1748=)
|
rs749010787
|
|
NM_001042492.3(NF1):c.5250C>T (p.Asp1750=)
|
rs1210732116
|
|
NM_001042492.3(NF1):c.5253C>A (p.Thr1751=)
|
rs768884582
|
|
NM_001042492.3(NF1):c.5256A>G (p.Lys1752=)
|
rs1060503899
|
|
NM_001042492.3(NF1):c.5259T>G (p.Val1753=)
|
rs2151539086
|
|
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+8C>G
|
rs2151539157
|
|
NM_001042492.3(NF1):c.5269-11C>T
|
rs2151540713
|
|
NM_001042492.3(NF1):c.5269-13C>G
|
|
|
NM_001042492.3(NF1):c.5269-15A>G
|
rs2151540701
|
|
NM_001042492.3(NF1):c.5269-20C>T
|
rs2151540678
|
|
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.5274T>C (p.Gly1758=)
|
rs2151540780
|
|
NM_001042492.3(NF1):c.5280T>G (p.Thr1760=)
|
|
|
NM_001042492.3(NF1):c.5292A>G (p.Val1764=)
|
rs1597831870
|
|
NM_001042492.3(NF1):c.5295T>C (p.Thr1765=)
|
rs1286956337
|
|
NM_001042492.3(NF1):c.5298A>G (p.Ser1766=)
|
|
|
NM_001042492.3(NF1):c.5301A>G (p.Ala1767=)
|
|
|
NM_001042492.3(NF1):c.5307A>G (p.Arg1769=)
|
rs2151540899
|
|
NM_001042492.3(NF1):c.5310A>G (p.Thr1770=)
|
|
|
NM_001042492.3(NF1):c.5317C>T (p.Leu1773=)
|
rs1597831909
|
|
NM_001042492.3(NF1):c.5322G>C (p.Gly1774=)
|
|
|
NM_001042492.3(NF1):c.5322G>T (p.Gly1774=)
|
rs201584313
|
|
NM_001042492.3(NF1):c.5325A>G (p.Gln1775=)
|
rs2069376896
|
|
NM_001042492.3(NF1):c.5328A>G (p.Ser1776=)
|
rs759639187
|
|
NM_001042492.3(NF1):c.5331C>G (p.Val1777=)
|
|
|
NM_001042492.3(NF1):c.5331C>T (p.Val1777=)
|
|
|
NM_001042492.3(NF1):c.5337A>G (p.Leu1779=)
|
rs2151541018
|
|
NM_001042492.3(NF1):c.5343C>T (p.Asp1781=)
|
|
|
NM_001042492.3(NF1):c.5352T>C (p.Tyr1784=)
|
|
|
NM_001042492.3(NF1):c.5355T>C (p.Ala1785=)
|
|
|
NM_001042492.3(NF1):c.5367A>G (p.Glu1789=)
|
|
|
NM_001042492.3(NF1):c.5373C>T (p.Ile1791=)
|
rs1597831996
|
|
NM_001042492.3(NF1):c.5376C>T (p.Cys1792=)
|
|
|
NM_001042492.3(NF1):c.5377C>T (p.Leu1793=)
|
rs761676110
|
|
NM_001042492.3(NF1):c.5379A>G (p.Leu1793=)
|
rs2151541156
|
|
NM_001042492.3(NF1):c.537G>A (p.Leu179=)
|
rs1555607095
|
|
NM_001042492.3(NF1):c.5388G>A (p.Glu1796=)
|
rs2069379264
|
|
NM_001042492.3(NF1):c.5394G>A (p.Gln1798=)
|
|
|
NM_001042492.3(NF1):c.5397C>T (p.Phe1799=)
|
rs878853901
|
|
NM_001042492.3(NF1):c.5400C>G (p.Thr1800=)
|
rs1597832051
|
|
NM_001042492.3(NF1):c.5401T>C (p.Leu1801=)
|
|
|
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.540A>G (p.Leu180=)
|
rs1597643865
|
|
NM_001042492.3(NF1):c.5418G>A (p.Gln1806=)
|
rs2151541293
|
|
NM_001042492.3(NF1):c.5424G>T (p.Thr1808=)
|
|
|
NM_001042492.3(NF1):c.5427G>A (p.Pro1809=)
|
rs1281695642
|
|
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.5439G>C (p.Met1813Ile)
|
|
|
NM_001042492.3(NF1):c.543G>A (p.Gln181=)
|
rs2143707678
|
|
NM_001042492.3(NF1):c.5442C>T (p.His1814=)
|
rs991848606
|
|
NM_001042492.3(NF1):c.5445G>A (p.Gln1815=)
|
rs2151541382
|
|
NM_001042492.3(NF1):c.5457C>T (p.Ala1819=)
|
rs2069381058
|
|
NM_001042492.3(NF1):c.5463C>A (p.Val1821=)
|
|
|
NM_001042492.3(NF1):c.5463C>G (p.Val1821=)
|
|
|
NM_001042492.3(NF1):c.5472C>A (p.Ile1824=)
|
rs758784558
|
|
NM_001042492.3(NF1):c.5481C>T (p.Ile1827=)
|
rs1555533607
|
|
NM_001042492.3(NF1):c.5484G>A (p.Arg1828=)
|
rs2151541517
|
|
NM_001042492.3(NF1):c.5484G>T (p.Arg1828=)
|
|
|
NM_001042492.3(NF1):c.5487C>T (p.Thr1829=)
|
|
|
NM_001042492.3(NF1):c.5496A>G (p.Glu1832=)
|
rs1555533613
|
|
NM_001042492.3(NF1):c.54C>T (p.Asp18=)
|
rs1598173882
|
|
NM_001042492.3(NF1):c.5505G>A (p.Gln1835=)
|
rs1555533615
|
|
NM_001042492.3(NF1):c.5514T>C (p.Ser1838=)
|
|
|
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.5526C>T (p.His1842=)
|
rs2151541659
|
|
NM_001042492.3(NF1):c.5529C>T (p.Thr1843=)
|
|
|
NM_001042492.3(NF1):c.5538G>A (p.Arg1846=)
|
rs2151541698
|
|
NM_001042492.3(NF1):c.5541A>C (p.Pro1847=)
|
|
|
NM_001042492.3(NF1):c.5541A>G (p.Pro1847=)
|
rs775779014
|
|
NM_001042492.3(NF1):c.5550C>T (p.Val1850=)
|
rs876658124
|
|
NM_001042492.3(NF1):c.5553T>A (p.Pro1851=)
|
|
|
NM_001042492.3(NF1):c.5556G>A (p.Gly1852=)
|
rs763146785
|
|
NM_001042492.3(NF1):c.5559A>G (p.Thr1853=)
|
|
|
NM_001042492.3(NF1):c.555G>A (p.Val185=)
|
rs2143707858
|
|
NM_001042492.3(NF1):c.5565C>T (p.Leu1855=)
|
|
|
NM_001042492.3(NF1):c.5571C>A (p.Ile1857=)
|
rs771837192
|
|
NM_001042492.3(NF1):c.5584T>C (p.Leu1862=)
|
|
|
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.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+20C>T
|
rs2151542052
|
|
NM_001042492.3(NF1):c.5609+8T>A
|
rs753289678
|
|
NM_001042492.3(NF1):c.5609+8T>C
|
rs753289678
|
|
NM_001042492.3(NF1):c.5610-19_5610-15del
|
rs770770675
|
|
NM_001042492.3(NF1):c.5610-5C>G
|
rs2151544379
|
|
NM_001042492.3(NF1):c.5610-5C>T
|
rs2151544379
|
|
NM_001042492.3(NF1):c.5613A>G (p.Ser1871=)
|
|
|
NM_001042492.3(NF1):c.5619C>G (p.Ala1873=)
|
rs786203335
|
|
NM_001042492.3(NF1):c.5622T>C (p.Tyr1874=)
|
|
|
NM_001042492.3(NF1):c.5625T>C (p.Asn1875=)
|
rs1275173622
|
|
NM_001042492.3(NF1):c.5628T>C (p.Leu1876=)
|
|
|
NM_001042492.3(NF1):c.5629C>T (p.Leu1877=)
|
|
|
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.5637C>T (p.Ala1879=)
|
rs2151544461
|
|
NM_001042492.3(NF1):c.563C>T (p.Ala188Val)
|
rs1060500309
|
|
NM_001042492.3(NF1):c.5649C>A (p.Thr1883=)
|
|
|
NM_001042492.3(NF1):c.5652T>C (p.Phe1884=)
|
rs1567613616
|
|
NM_001042492.3(NF1):c.5658A>G (p.Leu1886=)
|
rs1555533854
|
|
NM_001042492.3(NF1):c.5670C>T (p.Gly1890=)
|
|
|
NM_001042492.3(NF1):c.5673G>A (p.Gln1891=)
|
rs1555533857
|
|
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.5685A>G (p.Thr1895=)
|
rs2151544609
|
|
NM_001042492.3(NF1):c.5688A>G (p.Ser1896=)
|
rs1597834745
|
|
NM_001042492.3(NF1):c.5697T>C (p.Cys1899=)
|
rs1597834760
|
|
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.5712C>T (p.Asn1904=)
|
|
|
NM_001042492.3(NF1):c.5715C>G (p.Thr1905=)
|
|
|
NM_001042492.3(NF1):c.5718C>G (p.Leu1906=)
|
rs2151544713
|
|
NM_001042492.3(NF1):c.5721T>C (p.Phe1907=)
|
rs1555533868
|
|
NM_001042492.3(NF1):c.5724T>C (p.Ile1908=)
|
rs786203312
|
|
NM_001042492.3(NF1):c.5736T>C (p.Ser1912=)
|
|
|
NM_001042492.3(NF1):c.5742A>T (p.Thr1914=)
|
rs1555533874
|
|
NM_001042492.3(NF1):c.5743C>T (p.Leu1915=)
|
rs2151544820
|
|
NM_001042492.3(NF1):c.5748A>G (p.Ala1916=)
|
|
|
NM_001042492.3(NF1):c.574C>A (p.Arg192=)
|
rs397514641
|
|
NM_001042492.3(NF1):c.5751C>G (p.Ala1917=)
|
rs1597834874
|
|
NM_001042492.3(NF1):c.5766C>A (p.Leu1922=)
|
|
|
NM_001042492.3(NF1):c.5784A>G (p.Glu1928=)
|
|
|
NM_001042492.3(NF1):c.5787G>A (p.Glu1929=)
|
rs786202591
|
|
NM_001042492.3(NF1):c.5796T>C (p.Ser1932=)
|
|
|
NM_001042492.3(NF1):c.579C>A (p.Leu193=)
|
|
|
NM_001042492.3(NF1):c.5805C>T (p.Ser1935=)
|
rs876660179
|
|
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+19C>A
|
|
|
NM_001042492.3(NF1):c.5812+20T>C
|
|
|
NM_001042492.3(NF1):c.5812+332A>C
|
rs863224491
|
|
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.5813-12A>C
|
rs768741646
|
|
NM_001042492.3(NF1):c.5813-12A>G
|
rs768741646
|
|
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.5813-17A>G
|
|
|
NM_001042492.3(NF1):c.5813-18T>A
|
|
|
NM_001042492.3(NF1):c.5813-4C>G
|
|
|
NM_001042492.3(NF1):c.5816T>G (p.Ile1939Ser)
|
rs1304057833
|
|
NM_001042492.3(NF1):c.5821T>C (p.Leu1941=)
|
rs2151550259
|
|
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.5832T>A (p.Leu1944=)
|
rs2151550292
|
|
NM_001042492.3(NF1):c.5836T>C (p.Leu1946=)
|
|
|
NM_001042492.3(NF1):c.5844C>T (p.Tyr1948=)
|
rs1373088315
|
|
NM_001042492.3(NF1):c.5857C>T (p.Leu1953=)
|
rs1555534394
|
|
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+18A>G
|
rs2143708552
|
|
NM_001042492.3(NF1):c.586+9A>G
|
rs757780611
|
|
NM_001042492.3(NF1):c.586+9_586+10insTGTAT
|
rs2143708442
|
|
NM_001042492.3(NF1):c.5862A>C (p.Ser1954=)
|
rs2151550379
|
|
NM_001042492.3(NF1):c.5865T>C (p.Asn1955=)
|
rs863224356
|
|
NM_001042492.3(NF1):c.5868A>C (p.Leu1956=)
|
|
|
NM_001042492.3(NF1):c.5868A>G (p.Leu1956=)
|
|
|
NM_001042492.3(NF1):c.587-11_587-10del
|
|
|
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>C
|
rs940581106
|
|
NM_001042492.3(NF1):c.587-14del
|
|
|
NM_001042492.3(NF1):c.587-15T>C
|
rs2143773718
|
|
NM_001042492.3(NF1):c.587-16A>C
|
|
|
NM_001042492.3(NF1):c.587-5T>C
|
rs2143773838
|
|
NM_001042492.3(NF1):c.587-6T>C
|
rs2143773829
|
|
NM_001042492.3(NF1):c.587-6_587-5del
|
rs759349569
|
|
NM_001042492.3(NF1):c.5880C>T (p.Cys1960=)
|
|
|
NM_001042492.3(NF1):c.5892T>C (p.Asp1964=)
|
rs113768154
|
|
NM_001042492.3(NF1):c.5898C>G (p.Ala1966=)
|
rs2151550470
|
|
NM_001042492.3(NF1):c.5902C>A (p.Arg1968=)
|
rs137854552
|
|
NM_001042492.3(NF1):c.5913T>A (p.Val1971=)
|
|
|
NM_001042492.3(NF1):c.5916T>C (p.Thr1972=)
|
rs2151550524
|
|
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.5934G>A (p.Leu1978=)
|
rs535803385
|
|
NM_001042492.3(NF1):c.5934G>T (p.Leu1978=)
|
|
|
NM_001042492.3(NF1):c.5940A>G (p.Thr1980=)
|
rs1555534422
|
|
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.5952T>C (p.Asn1984=)
|
|
|
NM_001042492.3(NF1):c.5967C>T (p.Tyr1989=)
|
rs1567615902
|
|
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.5976T>C (p.Ile1992=)
|
rs766233634
|
|
NM_001042492.3(NF1):c.5982A>G (p.Ala1994=)
|
rs876659794
|
|
NM_001042492.3(NF1):c.5988A>T (p.Ile1996=)
|
rs2151550732
|
|
NM_001042492.3(NF1):c.5997C>T (p.Ser1999=)
|
rs2069608865
|
|
NM_001042492.3(NF1):c.60+10C>G
|
rs1375725102
|
|
NM_001042492.3(NF1):c.60+11C>A
|
|
|
NM_001042492.3(NF1):c.60+12G>A
|
rs1300623938
|
|
NM_001042492.3(NF1):c.60+12G>C
|
rs1300623938
|
|
NM_001042492.3(NF1):c.60+12G>T
|
|
|
NM_001042492.3(NF1):c.60+13T>G
|
|
|
NM_001042492.3(NF1):c.60+14GGCG[3]
|
rs1348710713
|
|
NM_001042492.3(NF1):c.60+17G>A
|
|
|
NM_001042492.3(NF1):c.60+18G>A
|
rs1598173975
|
|
NM_001042492.3(NF1):c.60+20C>T
|
|
|
NM_001042492.3(NF1):c.60+7G>A
|
rs1060503895
|
|
NM_001042492.3(NF1):c.60+8G>A
|
rs1598173934
|
|
NM_001042492.3(NF1):c.60+8G>C
|
rs1598173934
|
|
NM_001042492.3(NF1):c.60+9C>T
|
|
|
NM_001042492.3(NF1):c.6003G>A (p.Gly2001=)
|
rs1346833291
|
|
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+20A>T
|
|
|
NM_001042492.3(NF1):c.6006+7A>C
|
|
|
NM_001042492.3(NF1):c.6006+7A>T
|
|
|
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.6007-3T>C
|
|
|
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>G (p.Lys200=)
|
rs2143774046
|
|
NM_001042492.3(NF1):c.6016C>T (p.Leu2006=)
|
rs2151553176
|
|
NM_001042492.3(NF1):c.6027T>C (p.Val2009=)
|
|
|
NM_001042492.3(NF1):c.6030A>G (p.Val2010=)
|
|
|
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.6039T>C (p.Ser2013=)
|
|
|
NM_001042492.3(NF1):c.603T>C (p.Phe201=)
|
rs1597658060
|
|
NM_001042492.3(NF1):c.6045C>A (p.Ile2015=)
|
rs1433863184
|
|
NM_001042492.3(NF1):c.6060A>C (p.Thr2020=)
|
rs761889172
|
|
NM_001042492.3(NF1):c.6066C>T (p.Gly2022=)
|
rs2151553337
|
|
NM_001042492.3(NF1):c.6067T>C (p.Leu2023=)
|
rs2151553342
|
|
NM_001042492.3(NF1):c.6075A>G (p.Ser2025=)
|
|
|
NM_001042492.3(NF1):c.6084T>A (p.Ala2028=)
|
|
|
NM_001042492.3(NF1):c.6087G>A (p.Glu2029=)
|
rs58781141
|
|
NM_001042492.3(NF1):c.609C>T (p.Ala203=)
|
rs2143774168
|
|
NM_001042492.3(NF1):c.61-1G>T
|
rs1263745475
|
|
NM_001042492.3(NF1):c.61-3dup
|
rs2143625033
|
|
NM_001042492.3(NF1):c.61-4del
|
rs551568608
|
|
NM_001042492.3(NF1):c.61-5T>C
|
|
|
NM_001042492.3(NF1):c.61-7464_61-7440dup
|
|
|
NM_001042492.3(NF1):c.61-8T>C
|
rs2143624960
|
|
NM_001042492.3(NF1):c.6102T>C (p.Thr2034=)
|
rs1597842306
|
|
NM_001042492.3(NF1):c.6105T>A (p.Ala2035=)
|
|
|
NM_001042492.3(NF1):c.6120T>C (p.Ser2040=)
|
rs2069671357
|
|
NM_001042492.3(NF1):c.6126T>C (p.Asn2042=)
|
|
|
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.6138T>C (p.Val2046=)
|
rs2151553588
|
|
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+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.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.615G>A (p.Lys205=)
|
rs1135402794
|
|
NM_001042492.3(NF1):c.6165C>T (p.Cys2055=)
|
|
|
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.6186C>T (p.Cys2062=)
|
rs1555534669
|
|
NM_001042492.3(NF1):c.618G>A (p.Lys206=)
|
rs1567825917
|
|
NM_001042492.3(NF1):c.6195A>C (p.Pro2065=)
|
rs1060503920
|
|
NM_001042492.3(NF1):c.6201T>C (p.Pro2067=)
|
rs1555534671
|
|
NM_001042492.3(NF1):c.6207A>G (p.Leu2069=)
|
rs1597842793
|
|
NM_001042492.3(NF1):c.6213A>G (p.Gln2071=)
|
rs1060503910
|
|
NM_001042492.3(NF1):c.6228T>C (p.Asp2076=)
|
rs1555534682
|
|
NM_001042492.3(NF1):c.6231T>C (p.Asp2077=)
|
rs1398569642
|
|
NM_001042492.3(NF1):c.6237T>C (p.Ala2079=)
|
rs2151554552
|
|
NM_001042492.3(NF1):c.6243A>G (p.Leu2081=)
|
|
|
NM_001042492.3(NF1):c.624G>A (p.Ala208=)
|
rs370184932
|
|
NM_001042492.3(NF1):c.6252C>T (p.Tyr2084=)
|
|
|
NM_001042492.3(NF1):c.6258G>A (p.Leu2086=)
|
|
|
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.6270C>T (p.Phe2090=)
|
|
|
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.6282T>C (p.Leu2094=)
|
|
|
NM_001042492.3(NF1):c.6282T>G (p.Leu2094=)
|
rs2151554690
|
|
NM_001042492.3(NF1):c.6285T>C (p.Asp2095=)
|
|
|
NM_001042492.3(NF1):c.6288G>A (p.Val2096=)
|
rs786203541
|
|
NM_001042492.3(NF1):c.6300T>C (p.Leu2100=)
|
rs876660236
|
|
NM_001042492.3(NF1):c.6303C>G (p.Pro2101=)
|
|
|
NM_001042492.3(NF1):c.6303C>T (p.Pro2101=)
|
rs1161009317
|
|
NM_001042492.3(NF1):c.6306C>T (p.Tyr2102=)
|
|
|
NM_001042492.3(NF1):c.6309C>T (p.Leu2103=)
|
rs2151554779
|
|
NM_001042492.3(NF1):c.630A>G (p.Leu210=)
|
|
|
NM_001042492.3(NF1):c.6324T>C (p.Thr2108=)
|
rs1555534728
|
|
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.6336C>T (p.Ala2112=)
|
rs2151554865
|
|
NM_001042492.3(NF1):c.6339A>G (p.Thr2113=)
|
|
|
NM_001042492.3(NF1):c.633A>G (p.Ala211=)
|
rs876660800
|
|
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.6351C>G (p.Ser2117=)
|
|
|
NM_001042492.3(NF1):c.6354T>G (p.Leu2118=)
|
rs1487199130
|
|
NM_001042492.3(NF1):c.6363C>G (p.Ser2121=)
|
rs1555534749
|
|
NM_001042492.3(NF1):c.6366A>C (p.Thr2122=)
|
|
|
NM_001042492.3(NF1):c.6366A>G (p.Thr2122=)
|
rs876657547
|
|
NM_001042492.3(NF1):c.636T>C (p.Val212=)
|
rs1361259662
|
|
NM_001042492.3(NF1):c.6378C>G (p.Val2126=)
|
|
|
NM_001042492.3(NF1):c.6387C>T (p.Ile2129=)
|
rs786203078
|
|
NM_001042492.3(NF1):c.6396T>G (p.Ser2132=)
|
rs1555534764
|
|
NM_001042492.3(NF1):c.6399G>A (p.Leu2133=)
|
rs1448544243
|
|
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.6428-10T>G
|
rs2151555897
|
|
NM_001042492.3(NF1):c.6428-13del
|
|
|
NM_001042492.3(NF1):c.6428-16del
|
rs775290769
|
|
NM_001042492.3(NF1):c.6428-17C>G
|
rs2069702311
|
|
NM_001042492.3(NF1):c.6428-17C>T
|
|
|
NM_001042492.3(NF1):c.6428-20G>A
|
rs897880244
|
|
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>T
|
rs1418018519
|
|
NM_001042492.3(NF1):c.642T>C (p.Asn214=)
|
rs2143774575
|
|
NM_001042492.3(NF1):c.6432G>A (p.Glu2144=)
|
rs2151555941
|
|
NM_001042492.3(NF1):c.6441A>G (p.Gln2147=)
|
|
|
NM_001042492.3(NF1):c.6444T>G (p.Val2148=)
|
|
|
NM_001042492.3(NF1):c.6448A>C (p.Arg2150=)
|
|
|
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.6465G>A (p.Glu2155=)
|
rs1394945517
|
|
NM_001042492.3(NF1):c.646C>T (p.Leu216=)
|
rs1597658201
|
|
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.6477C>T (p.Pro2159=)
|
|
|
NM_001042492.3(NF1):c.648G>A (p.Leu216=)
|
rs2143774676
|
|
NM_001042492.3(NF1):c.64C>T (p.Pro22Ser)
|
rs1597625794
|
|
NM_001042492.3(NF1):c.6510C>T (p.Val2170=)
|
rs2151556214
|
|
NM_001042492.3(NF1):c.6513G>A (p.Lys2171=)
|
rs1597843784
|
|
NM_001042492.3(NF1):c.6519T>C (p.Ala2173=)
|
|
|
NM_001042492.3(NF1):c.651A>G (p.Glu217=)
|
|
|
NM_001042492.3(NF1):c.6522T>A (p.Ala2174=)
|
|
|
NM_001042492.3(NF1):c.6525C>T (p.Val2175=)
|
rs761686171
|
|
NM_001042492.3(NF1):c.6531C>T (p.Ala2177=)
|
rs2151556280
|
|
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+20G>A
|
rs2066133331
|
|
NM_001042492.3(NF1):c.654+20G>T
|
|
|
NM_001042492.3(NF1):c.654+9C>A
|
rs2143774861
|
|
NM_001042492.3(NF1):c.6549G>T (p.Arg2183=)
|
rs1028183407
|
|
NM_001042492.3(NF1):c.655-5T>C
|
rs377264487
|
|
NM_001042492.3(NF1):c.655-6_655-3del
|
rs2066137549
|
|
NM_001042492.3(NF1):c.655-8A>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.6558A>G (p.Ser2186=)
|
rs753509749
|
|
NM_001042492.3(NF1):c.6564T>C (p.Ser2188=)
|
|
|
NM_001042492.3(NF1):c.6567T>C (p.Pro2189=)
|
rs1597843915
|
|
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.6573C>T (p.Ser2191=)
|
rs753136800
|
|
NM_001042492.3(NF1):c.6576T>C (p.Tyr2192=)
|
rs758917402
|
|
NM_001042492.3(NF1):c.657A>G (p.Ala219=)
|
rs2143777330
|
|
NM_001042492.3(NF1):c.6582A>G (p.Arg2194=)
|
|
|
NM_001042492.3(NF1):c.6591T>C (p.Phe2197=)
|
rs1298866989
|
|
NM_001042492.3(NF1):c.6594T>C (p.Ala2198=)
|
rs2151556493
|
|
NM_001042492.3(NF1):c.6606G>A (p.Leu2202=)
|
rs2151556537
|
|
NM_001042492.3(NF1):c.6609A>G (p.Glu2203=)
|
rs2151556543
|
|
NM_001042492.3(NF1):c.6612A>G (p.Thr2204=)
|
rs1555534883
|
|
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.6630G>A (p.Leu2210=)
|
rs886052801
|
|
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+16T>A
|
rs773123329
|
|
NM_001042492.3(NF1):c.6642+16T>C
|
|
|
NM_001042492.3(NF1):c.6642+22_6642+24del
|
rs2151556747
|
|
NM_001042492.3(NF1):c.6642+7A>G
|
rs1597844162
|
|
NM_001042492.3(NF1):c.6642+9G>A
|
|
|
NM_001042492.3(NF1):c.6643-10C>T
|
rs1597844527
|
|
NM_001042492.3(NF1):c.6643-12C>A
|
|
|
NM_001042492.3(NF1):c.6643-12C>T
|
rs2151557324
|
|
NM_001042492.3(NF1):c.6643-19A>C
|
rs544476647
|
|
NM_001042492.3(NF1):c.6643-20C>G
|
|
|
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.6643-6T>G
|
|
|
NM_001042492.3(NF1):c.6643-8T>C
|
rs752079977
|
|
NM_001042492.3(NF1):c.6645A>G (p.Ala2215=)
|
|
|
NM_001042492.3(NF1):c.6657T>C (p.Asp2219=)
|
|
|
NM_001042492.3(NF1):c.6663A>G (p.Pro2221=)
|
rs876660136
|
|
NM_001042492.3(NF1):c.6664_6665inv (p.Thr2222Val)
|
|
|
NM_001042492.3(NF1):c.6666G>C (p.Thr2222=)
|
rs780247942
|
|
NM_001042492.3(NF1):c.6666G>T (p.Thr2222=)
|
|
|
NM_001042492.3(NF1):c.6676C>T (p.Leu2226=)
|
rs876658129
|
|
NM_001042492.3(NF1):c.6681C>T (p.Asp2227=)
|
rs876659371
|
|
NM_001042492.3(NF1):c.6690A>G (p.Thr2230=)
|
rs1597844663
|
|
NM_001042492.3(NF1):c.6693A>G (p.Glu2231=)
|
rs777588905
|
|
NM_001042492.3(NF1):c.66A>G (p.Pro22=)
|
|
|
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+20T>C
|
|
|
NM_001042492.3(NF1):c.6704+20T>G
|
|
|
NM_001042492.3(NF1):c.6704+4T>C
|
rs1555534930
|
|
NM_001042492.3(NF1):c.6704+7C>T
|
rs2151557592
|
|
NM_001042492.3(NF1):c.6704+8C>A
|
rs770797478
|
|
NM_001042492.3(NF1):c.6705-11T>G
|
rs2069723793
|
|
NM_001042492.3(NF1):c.6705-13C>T
|
|
|
NM_001042492.3(NF1):c.6705-15A>G
|
rs2151557980
|
|
NM_001042492.3(NF1):c.6705-18T>C
|
|
|
NM_001042492.3(NF1):c.6705-19G>A
|
|
|
NM_001042492.3(NF1):c.6705-4G>T
|
rs1597844961
|
|
NM_001042492.3(NF1):c.6705-6T>C
|
rs1597844950
|
|
NM_001042492.3(NF1):c.6705-7A>T
|
rs2151558006
|
|
NM_001042492.3(NF1):c.6705-8A>G
|
rs2151558002
|
|
NM_001042492.3(NF1):c.6708T>C (p.Phe2236=)
|
rs2151558039
|
|
NM_001042492.3(NF1):c.6711A>C (p.Ala2237=)
|
|
|
NM_001042492.3(NF1):c.6714C>T (p.Phe2238=)
|
|
|
NM_001042492.3(NF1):c.6717A>G (p.Gln2239=)
|
rs2069724967
|
|
NM_001042492.3(NF1):c.6720T>C (p.Tyr2240=)
|
rs2151558071
|
|
NM_001042492.3(NF1):c.6726A>C (p.Pro2242=)
|
rs2151558085
|
|
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.6730C>T (p.Leu2244=)
|
rs1210367831
|
|
NM_001042492.3(NF1):c.6738A>G (p.Pro2246=)
|
rs2151558128
|
|
NM_001042492.3(NF1):c.6739A>C (p.Arg2247=)
|
rs1597845024
|
|
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.6750T>A (p.Val2250=)
|
rs762075320
|
|
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.6777G>A (p.Val2259=)
|
rs1281405147
|
|
NM_001042492.3(NF1):c.6786G>A (p.Gly2262=)
|
rs878853911
|
|
NM_001042492.3(NF1):c.678T>C (p.Asn226=)
|
rs2143777669
|
|
NM_001042492.3(NF1):c.6795G>A (p.Lys2265=)
|
rs1597845162
|
|
NM_001042492.3(NF1):c.6807T>G (p.Arg2269=)
|
|
|
NM_001042492.3(NF1):c.6816C>T (p.Ser2272=)
|
rs864622360
|
|
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+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+7G>T
|
|
|
NM_001042492.3(NF1):c.6819+9T>G
|
rs2151558449
|
|
NM_001042492.3(NF1):c.6820-10T>C
|
|
|
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.6820-15C>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.6820-5A>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>G
|
|
|
NM_001042492.3(NF1):c.6820-7C>T
|
rs1555535020
|
|
NM_001042492.3(NF1):c.6820-8C>T
|
rs1060503909
|
|
NM_001042492.3(NF1):c.6822A>C (p.Ala2274=)
|
rs1555535025
|
|
NM_001042492.3(NF1):c.6822A>G (p.Ala2274=)
|
|
|
NM_001042492.3(NF1):c.6828G>A (p.Glu2276=)
|
rs2069742604
|
|
NM_001042492.3(NF1):c.6837A>G (p.Leu2279=)
|
rs144287929
|
|
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.6861T>C (p.Ser2287=)
|
|
|
NM_001042492.3(NF1):c.6867T>C (p.Val2289=)
|
rs2151559243
|
|
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.687T>C (p.Asp229=)
|
rs2143777813
|
|
NM_001042492.3(NF1):c.6882A>G (p.Thr2294=)
|
rs766889312
|
|
NM_001042492.3(NF1):c.6892C>T (p.Leu2298=)
|
rs1555535049
|
|
NM_001042492.3(NF1):c.6897C>G (p.Thr2299=)
|
|
|
NM_001042492.3(NF1):c.6903A>G (p.Leu2301=)
|
|
|
NM_001042492.3(NF1):c.6906G>A (p.Gln2302=)
|
rs1333226474
|
|
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.6915T>C (p.Leu2305=)
|
|
|
NM_001042492.3(NF1):c.6915T>G (p.Leu2305=)
|
|
|
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+20dup
|
|
|
NM_001042492.3(NF1):c.6921+7A>C
|
|
|
NM_001042492.3(NF1):c.6921+9T>C
|
rs1555535059
|
|
NM_001042492.3(NF1):c.6921+9del
|
|
|
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.6922-16A>T
|
|
|
NM_001042492.3(NF1):c.6922-17C>T
|
|
|
NM_001042492.3(NF1):c.6922-18A>T
|
rs2151561347
|
|
NM_001042492.3(NF1):c.6922-4C>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.6922-9C>T
|
rs760085677
|
|
NM_001042492.3(NF1):c.6930T>A (p.Pro2310=)
|
|
|
NM_001042492.3(NF1):c.6933G>A (p.Leu2311=)
|
rs1468907773
|
|
NM_001042492.3(NF1):c.6942C>T (p.Ala2314=)
|
rs1597847931
|
|
NM_001042492.3(NF1):c.6945C>T (p.Leu2315=)
|
rs751893971
|
|
NM_001042492.3(NF1):c.6957T>C (p.Ala2319=)
|
|
|
NM_001042492.3(NF1):c.6963T>C (p.Ala2321=)
|
|
|
NM_001042492.3(NF1):c.6966G>A (p.Val2322=)
|
rs753793900
|
|
NM_001042492.3(NF1):c.6969G>A (p.Leu2323=)
|
rs2151561643
|
|
NM_001042492.3(NF1):c.696A>C (p.Thr232=)
|
|
|
NM_001042492.3(NF1):c.6972G>A (p.Gln2324=)
|
rs1555535169
|
|
NM_001042492.3(NF1):c.6975T>C (p.Leu2325=)
|
rs876659851
|
|
NM_001042492.3(NF1):c.6978T>C (p.Asp2326=)
|
rs1135402896
|
|
NM_001042492.3(NF1):c.6984C>G (p.Val2328=)
|
|
|
NM_001042492.3(NF1):c.6987C>T (p.Asn2329=)
|
rs2151561728
|
|
NM_001042492.3(NF1):c.6993T>C (p.Tyr2331=)
|
rs2069792220
|
|
NM_001042492.3(NF1):c.699A>G (p.Lys233=)
|
|
|
NM_001042492.3(NF1):c.6C>T (p.Ala2=)
|
rs876660128
|
|
NM_001042492.3(NF1):c.7002T>C (p.Gly2334=)
|
|
|
NM_001042492.3(NF1):c.7008A>G (p.Ala2336=)
|
rs201153017
|
|
NM_001042492.3(NF1):c.700C>T (p.Leu234=)
|
|
|
NM_001042492.3(NF1):c.7024C>T (p.Leu2342=)
|
rs2151561869
|
|
NM_001042492.3(NF1):c.7026G>T (p.Leu2342=)
|
rs371581213
|
|
NM_001042492.3(NF1):c.7029T>C (p.His2343=)
|
rs1555535187
|
|
NM_001042492.3(NF1):c.7035A>G (p.Leu2345=)
|
|
|
NM_001042492.3(NF1):c.7038T>C (p.Asp2346=)
|
rs1597848208
|
|
NM_001042492.3(NF1):c.7041T>C (p.Ser2347=)
|
rs746322836
|
|
NM_001042492.3(NF1):c.7050A>T (p.Ile2350=)
|
rs2151561986
|
|
NM_001042492.3(NF1):c.7053C>T (p.Phe2351=)
|
rs2069794864
|
|
NM_001042492.3(NF1):c.7056T>C (p.Asn2352=)
|
|
|
NM_001042492.3(NF1):c.7059C>T (p.Asp2353=)
|
rs1555535200
|
|
NM_001042492.3(NF1):c.705C>T (p.Tyr235=)
|
rs769048538
|
|
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+15C>T
|
|
|
NM_001042492.3(NF1):c.7062+16C>T
|
rs2151562117
|
|
NM_001042492.3(NF1):c.7062+8A>T
|
|
|
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.7063-4A>C
|
|
|
NM_001042492.3(NF1):c.7063-4A>T
|
rs749805168
|
|
NM_001042492.3(NF1):c.7063-4_7063-2del
|
rs1597851237
|
|
NM_001042492.3(NF1):c.7063-6_7063-3del
|
rs2151564907
|
|
NM_001042492.3(NF1):c.7063-6_7063-5dup
|
|
|
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.7077A>T (p.Val2359=)
|
rs1483485648
|
|
NM_001042492.3(NF1):c.708G>A (p.Gln236=)
|
|
|
NM_001042492.3(NF1):c.7090C>A (p.Arg2364=)
|
rs1567620403
|
|
NM_001042492.3(NF1):c.7095T>C (p.Asn2365=)
|
rs981246691
|
|
NM_001042492.3(NF1):c.7099C>T (p.Leu2367=)
|
rs1259241665
|
|
NM_001042492.3(NF1):c.7101G>A (p.Leu2367=)
|
rs1567620421
|
|
NM_001042492.3(NF1):c.7104G>A (p.Glu2368=)
|
|
|
NM_001042492.3(NF1):c.7116G>A (p.Lys2372=)
|
rs2151565083
|
|
NM_001042492.3(NF1):c.711C>A (p.Ile237=)
|
rs2066139444
|
|
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.7140C>G (p.Leu2380=)
|
rs1318891665
|
|
NM_001042492.3(NF1):c.714A>T (p.Pro238=)
|
|
|
NM_001042492.3(NF1):c.7152T>A (p.Ser2384=)
|
rs2151565205
|
|
NM_001042492.3(NF1):c.7155C>T (p.Asn2385=)
|
rs2151565220
|
|
NM_001042492.3(NF1):c.7158T>C (p.Phe2386=)
|
rs876660271
|
|
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.7179C>T (p.His2393=)
|
rs2069870191
|
|
NM_001042492.3(NF1):c.717G>A (p.Gln239=)
|
rs1597658684
|
|
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+20A>C
|
|
|
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.7190-10T>C
|
rs2070072539
|
|
NM_001042492.3(NF1):c.7190-10T>G
|
rs2070072539
|
|
NM_001042492.3(NF1):c.7190-33TTGT[7]
|
rs149197458
|
|
NM_001042492.3(NF1):c.7190-5T>C
|
rs748245325
|
|
NM_001042492.3(NF1):c.7190-6T>C
|
rs1597858313
|
|
NM_001042492.3(NF1):c.7190-8T>G
|
rs2070072794
|
|
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.7197G>A (p.Arg2399=)
|
rs1555536017
|
|
NM_001042492.3(NF1):c.7209T>C (p.Pro2403=)
|
rs1597858377
|
|
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.7215T>C (p.Ile2405=)
|
rs2151572549
|
|
NM_001042492.3(NF1):c.7218T>C (p.Val2406=)
|
|
|
NM_001042492.3(NF1):c.7230C>T (p.Val2410=)
|
rs1555536022
|
|
NM_001042492.3(NF1):c.7233A>G (p.Arg2411=)
|
rs1597858430
|
|
NM_001042492.3(NF1):c.7237T>C (p.Leu2413=)
|
rs2070075052
|
|
NM_001042492.3(NF1):c.7246C>T (p.Leu2416=)
|
rs786201310
|
|
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.7260T>A (p.Val2420=)
|
rs2151572721
|
|
NM_001042492.3(NF1):c.7263C>T (p.Asn2421=)
|
rs1597858494
|
|
NM_001042492.3(NF1):c.7269C>T (p.His2423=)
|
|
|
NM_001042492.3(NF1):c.7272A>G (p.Arg2424=)
|
rs139997141
|
|
NM_001042492.3(NF1):c.7278T>C (p.Cys2426=)
|
rs1567623508
|
|
NM_001042492.3(NF1):c.7281C>T (p.Asp2427=)
|
rs1567623519
|
|
NM_001042492.3(NF1):c.7284A>G (p.Lys2428=)
|
rs1555536034
|
|
NM_001042492.3(NF1):c.7290A>G (p.Glu2430=)
|
rs2070077790
|
|
NM_001042492.3(NF1):c.7299A>C (p.Thr2433=)
|
rs1056697992
|
|
NM_001042492.3(NF1):c.730+10C>A
|
rs750468471
|
|
NM_001042492.3(NF1):c.730+13T>C
|
rs2066140403
|
|
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.731-10T>C
|
rs2143784643
|
|
NM_001042492.3(NF1):c.731-13A>G
|
rs2143784617
|
|
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.731-8T>G
|
rs1597659705
|
|
NM_001042492.3(NF1):c.7311C>T (p.Ala2437=)
|
rs876659893
|
|
NM_001042492.3(NF1):c.7315T>C (p.Leu2439=)
|
rs1597858629
|
|
NM_001042492.3(NF1):c.7321+10del
|
rs2151573014
|
|
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>G
|
|
|
NM_001042492.3(NF1):c.7322-18C>T
|
|
|
NM_001042492.3(NF1):c.7322-20T>C
|
|
|
NM_001042492.3(NF1):c.7322-20del
|
|
|
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>T
|
|
|
NM_001042492.3(NF1):c.7323T>C (p.Ala2441=)
|
rs765750009
|
|
NM_001042492.3(NF1):c.7332A>T (p.Thr2444=)
|
rs759005886
|
|
NM_001042492.3(NF1):c.7341A>G (p.Glu2447=)
|
rs878853915
|
|
NM_001042492.3(NF1):c.7344A>G (p.Glu2448=)
|
rs374234848
|
|
NM_001042492.3(NF1):c.735T>C (p.Cys245=)
|
rs2143784885
|
|
NM_001042492.3(NF1):c.7371T>C (p.His2457=)
|
|
|
NM_001042492.3(NF1):c.7374A>G (p.Arg2458=)
|
|
|
NM_001042492.3(NF1):c.7380A>G (p.Ser2460=)
|
rs1597859662
|
|
NM_001042492.3(NF1):c.7383T>C (p.Leu2461=)
|
rs1555536133
|
|
NM_001042492.3(NF1):c.7386T>C (p.Leu2462=)
|
rs2151574445
|
|
NM_001042492.3(NF1):c.7389T>C (p.Leu2463=)
|
rs1032859497
|
|
NM_001042492.3(NF1):c.7401A>G (p.Ser2467=)
|
rs2151574490
|
|
NM_001042492.3(NF1):c.7416T>C (p.Pro2472=)
|
rs876659624
|
|
NM_001042492.3(NF1):c.7422T>C (p.Asp2474=)
|
|
|
NM_001042492.3(NF1):c.7428T>C (p.Tyr2476=)
|
rs181397225
|
|
NM_001042492.3(NF1):c.7437T>C (p.His2479=)
|
rs1355368926
|
|
NM_001042492.3(NF1):c.7443T>C (p.Gly2481=)
|
rs2151574639
|
|
NM_001042492.3(NF1):c.744G>A (p.Lys248=)
|
rs1597659771
|
|
NM_001042492.3(NF1):c.7452C>A (p.Ser2484=)
|
rs764502383
|
|
NM_001042492.3(NF1):c.7455T>C (p.Tyr2485=)
|
rs1597859871
|
|
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+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.7458-15G>C
|
|
|
NM_001042492.3(NF1):c.7458-17T>C
|
|
|
NM_001042492.3(NF1):c.7458-18A>G
|
rs371362605
|
|
NM_001042492.3(NF1):c.7458-19T>A
|
|
|
NM_001042492.3(NF1):c.7458-4T>C
|
rs2151576876
|
|
NM_001042492.3(NF1):c.7458-4T>G
|
|
|
NM_001042492.3(NF1):c.7458-6T>G
|
|
|
NM_001042492.3(NF1):c.7458-9A>C
|
rs2151576863
|
|
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.7470G>A (p.Glu2490=)
|
rs1555536339
|
|
NM_001042492.3(NF1):c.7485C>G (p.Ser2495=)
|
|
|
NM_001042492.3(NF1):c.7500T>C (p.Ser2500=)
|
|
|
NM_001042492.3(NF1):c.7506A>T (p.Gly2502=)
|
rs775258088
|
|
NM_001042492.3(NF1):c.7509C>T (p.Tyr2503=)
|
rs1555536359
|
|
NM_001042492.3(NF1):c.7512T>A (p.Leu2504=)
|
rs1597862110
|
|
NM_001042492.3(NF1):c.7521C>T (p.Thr2507=)
|
rs2151577127
|
|
NM_001042492.3(NF1):c.7530T>A (p.Thr2510=)
|
rs1597862150
|
|
NM_001042492.3(NF1):c.7530T>G (p.Thr2510=)
|
|
|
NM_001042492.3(NF1):c.7533C>G (p.Val2511=)
|
rs760733171
|
|
NM_001042492.3(NF1):c.753C>T (p.Asp251=)
|
rs1567826636
|
|
NM_001042492.3(NF1):c.7542C>A (p.Thr2514=)
|
|
|
NM_001042492.3(NF1):c.7542C>T (p.Thr2514=)
|
rs1444018213
|
|
NM_001042492.3(NF1):c.7548C>T (p.Pro2516=)
|
rs2151577235
|
|
NM_001042492.3(NF1):c.754T>C (p.Leu252=)
|
rs2143785138
|
|
NM_001042492.3(NF1):c.7554C>A (p.Ala2518=)
|
|
|
NM_001042492.3(NF1):c.7557G>A (p.Arg2519=)
|
rs2151577269
|
|
NM_001042492.3(NF1):c.7560A>G (p.Lys2520=)
|
rs1597862203
|
|
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>T (p.Leu2524=)
|
rs1555536366
|
|
NM_001042492.3(NF1):c.7581G>C (p.Gly2527=)
|
rs1555536369
|
|
NM_001042492.3(NF1):c.7590T>C (p.Ser2530=)
|
rs1597862243
|
|
NM_001042492.3(NF1):c.7596C>T (p.Ala2532=)
|
rs864622517
|
|
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.7608G>A (p.Lys2536=)
|
rs1597862283
|
|
NM_001042492.3(NF1):c.7609T>C (p.Leu2537=)
|
rs748843392
|
|
NM_001042492.3(NF1):c.7611G>A (p.Leu2537=)
|
rs1597862289
|
|
NM_001042492.3(NF1):c.7614T>C (p.Leu2538=)
|
rs1555536374
|
|
NM_001042492.3(NF1):c.7615+11C>A
|
|
|
NM_001042492.3(NF1):c.7615+15A>C
|
rs2151577502
|
|
NM_001042492.3(NF1):c.7615+18A>G
|
rs772484540
|
|
NM_001042492.3(NF1):c.7615+20G>A
|
|
|
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.7616-18C>T
|
|
|
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.7629T>C (p.Ser2543=)
|
|
|
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.7653A>C (p.Thr2551=)
|
|
|
NM_001042492.3(NF1):c.7656G>A (p.Lys2552=)
|
rs2151581103
|
|
NM_001042492.3(NF1):c.7671A>G (p.Gln2557=)
|
|
|
NM_001042492.3(NF1):c.7683A>G (p.Ser2561=)
|
rs1555536646
|
|
NM_001042492.3(NF1):c.7686G>A (p.Gly2562=)
|
|
|
NM_001042492.3(NF1):c.7689C>A (p.Ile2563=)
|
rs2151581233
|
|
NM_001042492.3(NF1):c.7689C>T (p.Ile2563=)
|
|
|
NM_001042492.3(NF1):c.7695A>G (p.Thr2565=)
|
rs753391618
|
|
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.7716A>G (p.Val2572=)
|
|
|
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.7728T>C (p.Asp2576=)
|
rs876658892
|
|
NM_001042492.3(NF1):c.7731T>C (p.Tyr2577=)
|
|
|
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+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.7739-14C>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.7739-20A>G
|
|
|
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.7743T>C (p.Thr2581=)
|
rs2151582163
|
|
NM_001042492.3(NF1):c.7747A>C (p.Arg2583=)
|
rs2151582187
|
|
NM_001042492.3(NF1):c.774A>G (p.Glu258=)
|
rs1555608947
|
|
NM_001042492.3(NF1):c.7752T>C (p.Ile2584=)
|
rs2151582205
|
|
NM_001042492.3(NF1):c.7758A>G (p.Ser2586=)
|
|
|
NM_001042492.3(NF1):c.7758A>T (p.Ser2586=)
|
rs876658564
|
|
NM_001042492.3(NF1):c.7761A>G (p.Ser2587=)
|
rs1597866360
|
|
NM_001042492.3(NF1):c.7764A>G (p.Gln2588=)
|
rs2151582238
|
|
NM_001042492.3(NF1):c.7770C>T (p.His2590=)
|
rs1060503906
|
|
NM_001042492.3(NF1):c.7773A>G (p.Pro2591=)
|
|
|
NM_001042492.3(NF1):c.7779A>G (p.Leu2593=)
|
|
|
NM_001042492.3(NF1):c.7791A>G (p.Ser2597=)
|
|
|
NM_001042492.3(NF1):c.7791A>T (p.Ser2597=)
|
rs1597866426
|
|
NM_001042492.3(NF1):c.7794G>A (p.Val2598=)
|
rs1555536699
|
|
NM_001042492.3(NF1):c.7797T>C (p.Ser2599=)
|
|
|
NM_001042492.3(NF1):c.7800A>G (p.Glu2600=)
|
|
|
NM_001042492.3(NF1):c.7803A>C (p.Ser2601=)
|
rs1555536700
|
|
NM_001042492.3(NF1):c.7806T>C (p.Asn2602=)
|
rs2070288476
|
|
NM_001042492.3(NF1):c.7807G>C (p.Val2603Leu)
|
rs766135206
|
|
NM_001042492.3(NF1):c.780C>T (p.Thr260=)
|
rs1358425599
|
|
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.7815G>A (p.Leu2605=)
|
rs1555536703
|
|
NM_001042492.3(NF1):c.7827A>G (p.Val2609=)
|
rs1597866497
|
|
NM_001042492.3(NF1):c.7830T>G (p.Leu2610=)
|
rs1555536705
|
|
NM_001042492.3(NF1):c.7833T>C (p.Thr2611=)
|
rs786202445
|
|
NM_001042492.3(NF1):c.7839G>C (p.Pro2613=)
|
rs752218441
|
|
NM_001042492.3(NF1):c.783A>G (p.Lys261=)
|
rs2143785572
|
|
NM_001042492.3(NF1):c.7845C>T (p.Ile2615=)
|
rs876659117
|
|
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.7857T>G (p.Leu2619=)
|
rs2151582527
|
|
NM_001042492.3(NF1):c.7863T>A (p.Thr2621=)
|
|
|
NM_001042492.3(NF1):c.7863T>C (p.Thr2621=)
|
|
|
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+19dup
|
rs2151582627
|
|
NM_001042492.3(NF1):c.7869+7A>T
|
|
|
NM_001042492.3(NF1):c.7869+8T>G
|
rs2151582586
|
|
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.7870-14T>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.7870-4G>A
|
|
|
NM_001042492.3(NF1):c.7870-5G>C
|
|
|
NM_001042492.3(NF1):c.7870-5G>T
|
rs1169181885
|
|
NM_001042492.3(NF1):c.7870-7T>C
|
rs2151583138
|
|
NM_001042492.3(NF1):c.7870-8C>T
|
rs372441422
|
|
NM_001042492.3(NF1):c.7872T>C (p.Ala2624=)
|
rs1399938334
|
|
NM_001042492.3(NF1):c.7878G>A (p.Leu2626=)
|
rs1022364851
|
|
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.7896T>C (p.Asp2632=)
|
rs1277560744
|
|
NM_001042492.3(NF1):c.7899G>A (p.Glu2633=)
|
rs1597866857
|
|
NM_001042492.3(NF1):c.78A>G (p.Gly26=)
|
|
|
NM_001042492.3(NF1):c.7908A>G (p.Gln2636=)
|
rs2151583269
|
|
NM_001042492.3(NF1):c.7911A>T (p.Arg2637=)
|
rs1597866885
|
|
NM_001042492.3(NF1):c.7923A>G (p.Glu2641=)
|
rs1597866925
|
|
NM_001042492.3(NF1):c.7926C>T (p.Tyr2642=)
|
|
|
NM_001042492.3(NF1):c.7931C>A (p.Ala2644Glu)
|
rs766494934
|
|
NM_001042492.3(NF1):c.7938C>T (p.Ala2646=)
|
|
|
NM_001042492.3(NF1):c.7941T>C (p.Ser2647=)
|
rs2151583381
|
|
NM_001042492.3(NF1):c.7947G>C (p.Val2649=)
|
rs2151583400
|
|
NM_001042492.3(NF1):c.7953C>T (p.Pro2651=)
|
rs779167139
|
|
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.795A>C (p.Ala265=)
|
rs1597659909
|
|
NM_001042492.3(NF1):c.7965T>G (p.Pro2655=)
|
rs748355760
|
|
NM_001042492.3(NF1):c.7968T>G (p.Val2656=)
|
rs1555536771
|
|
NM_001042492.3(NF1):c.7970+11C>G
|
rs1366551996
|
|
NM_001042492.3(NF1):c.7970+15T>C
|
|
|
NM_001042492.3(NF1):c.7970+19T>C
|
rs1385428545
|
|
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>T
|
|
|
NM_001042492.3(NF1):c.7971-19G>A
|
|
|
NM_001042492.3(NF1):c.7971-4T>C
|
|
|
NM_001042492.3(NF1):c.7971-4T>G
|
rs1555536865
|
|
NM_001042492.3(NF1):c.7971-8dup
|
rs564545012
|
|
NM_001042492.3(NF1):c.7971-9T>C
|
rs2151584749
|
|
NM_001042492.3(NF1):c.7986C>T (p.Asp2662=)
|
rs876658550
|
|
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.7992G>A (p.Lys2664=)
|
rs1060500377
|
|
NM_001042492.3(NF1):c.7995C>T (p.Ile2665=)
|
rs1037082087
|
|
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>T (p.Leu2668=)
|
rs1060503905
|
|
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.8007A>G (p.Leu2669=)
|
rs2151584878
|
|
NM_001042492.3(NF1):c.8010A>G (p.Ser2670=)
|
|
|
NM_001042492.3(NF1):c.8011T>C (p.Leu2671=)
|
|
|
NM_001042492.3(NF1):c.8022T>C (p.Asp2674=)
|
|
|
NM_001042492.3(NF1):c.8029T>C (p.Leu2677=)
|
rs1207400434
|
|
NM_001042492.3(NF1):c.8031G>A (p.Leu2677=)
|
rs1555536905
|
|
NM_001042492.3(NF1):c.8032T>C (p.Leu2678=)
|
|
|
NM_001042492.3(NF1):c.8040A>T (p.Pro2680=)
|
rs749163014
|
|
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.8055G>A (p.Val2685=)
|
|
|
NM_001042492.3(NF1):c.8055G>T (p.Val2685=)
|
rs1245392693
|
|
NM_001042492.3(NF1):c.805C>T (p.Leu269=)
|
rs786202456
|
|
NM_001042492.3(NF1):c.8061T>C (p.Ser2687=)
|
rs786202936
|
|
NM_001042492.3(NF1):c.8064G>A (p.Val2688=)
|
rs876659082
|
|
NM_001042492.3(NF1):c.8064G>T (p.Val2688=)
|
|
|
NM_001042492.3(NF1):c.8067G>T (p.Val2689=)
|
rs2151585058
|
|
NM_001042492.3(NF1):c.8073T>C (p.His2691=)
|
rs375468032
|
|
NM_001042492.3(NF1):c.807A>G (p.Leu269=)
|
rs1333394353
|
|
NM_001042492.3(NF1):c.8082C>T (p.Ser2694=)
|
rs1597868236
|
|
NM_001042492.3(NF1):c.8088A>C (p.Pro2696=)
|
rs2151585111
|
|
NM_001042492.3(NF1):c.8088A>G (p.Pro2696=)
|
|
|
NM_001042492.3(NF1):c.8094C>T (p.Tyr2698=)
|
rs1597868268
|
|
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.8107C>T (p.Leu2703=)
|
rs955074155
|
|
NM_001042492.3(NF1):c.8109G>A (p.Leu2703=)
|
rs1397862679
|
|
NM_001042492.3(NF1):c.8113+10T>A
|
rs1336997870
|
|
NM_001042492.3(NF1):c.8113+10T>C
|
rs1336997870
|
|
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+9A>T
|
rs2151585184
|
|
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.8114-17A>G
|
|
|
NM_001042492.3(NF1):c.8114-40_8114-18del
|
|
|
NM_001042492.3(NF1):c.8114-8T>G
|
|
|
NM_001042492.3(NF1):c.8118T>C (p.Phe2706=)
|
|
|
NM_001042492.3(NF1):c.8127T>C (p.Asn2709=)
|
rs1555537015
|
|
NM_001042492.3(NF1):c.8131T>C (p.Leu2711=)
|
|
|
NM_001042492.3(NF1):c.8137C>A (p.Arg2713=)
|
rs757391670
|
|
NM_001042492.3(NF1):c.8142T>C (p.Phe2714=)
|
rs2151586040
|
|
NM_001042492.3(NF1):c.8145A>G (p.Ala2715=)
|
rs1555537028
|
|
NM_001042492.3(NF1):c.8151G>C (p.Pro2717=)
|
rs2285895
|
|
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+18T>A
|
|
|
NM_001042492.3(NF1):c.8160+20T>C
|
|
|
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.8161-4A>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.8166A>G (p.Thr2722=)
|
rs2151587620
|
|
NM_001042492.3(NF1):c.8169A>G (p.Gln2723=)
|
|
|
NM_001042492.3(NF1):c.8175A>G (p.Pro2725=)
|
rs1597870102
|
|
NM_001042492.3(NF1):c.8181T>C (p.Tyr2727=)
|
|
|
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.8194_8196del (p.Val2732del)
|
rs2151587729
|
|
NM_001042492.3(NF1):c.8196T>G (p.Val2732=)
|
rs1597870128
|
|
NM_001042492.3(NF1):c.819C>T (p.Leu273=)
|
rs765595990
|
|
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.8211C>G (p.Ala2737=)
|
rs1597870152
|
|
NM_001042492.3(NF1):c.8214G>A (p.Leu2738=)
|
rs786201597
|
|
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.8229G>A (p.Leu2743=)
|
rs1060503917
|
|
NM_001042492.3(NF1):c.822T>C (p.Leu274=)
|
rs1597659964
|
|
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.825C>T (p.Ile275=)
|
rs1597659985
|
|
NM_001042492.3(NF1):c.8262C>A (p.Ser2754=)
|
rs1304800176
|
|
NM_001042492.3(NF1):c.8265C>T (p.Leu2755=)
|
rs963516381
|
|
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.8274C>A (p.Pro2758=)
|
rs1597870233
|
|
NM_001042492.3(NF1):c.8277A>G (p.Thr2759=)
|
|
|
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.828G>A (p.Leu276=)
|
rs2143786216
|
|
NM_001042492.3(NF1):c.8292T>C (p.Pro2764=)
|
rs1555537246
|
|
NM_001042492.3(NF1):c.8295A>G (p.Ala2765=)
|
|
|
NM_001042492.3(NF1):c.8296C>T (p.Leu2766=)
|
rs749647961
|
|
NM_001042492.3(NF1):c.8301G>A (p.Gln2767=)
|
rs1597870264
|
|
NM_001042492.3(NF1):c.8304C>T (p.Ser2768=)
|
rs1555537250
|
|
NM_001042492.3(NF1):c.831T>C (p.Cys277=)
|
rs2143786248
|
|
NM_001042492.3(NF1):c.8337T>C (p.Ser2779=)
|
rs1597870309
|
|
NM_001042492.3(NF1):c.8343C>A (p.Ser2781=)
|
rs2151588196
|
|
NM_001042492.3(NF1):c.834A>G (p.Pro278=)
|
rs1318820078
|
|
NM_001042492.3(NF1):c.8352A>G (p.Ser2784=)
|
|
|
NM_001042492.3(NF1):c.8367G>A (p.Gln2789=)
|
rs786201780
|
|
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+20A>C
|
|
|
NM_001042492.3(NF1):c.8377+6509A>T
|
rs1343721620
|
|
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.8378-20G>A
|
|
|
NM_001042492.3(NF1):c.8378-20G>T
|
rs2151601130
|
|
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.8382C>A (p.Ile2794=)
|
rs1060503890
|
|
NM_001042492.3(NF1):c.8382C>T (p.Ile2794=)
|
rs1060503890
|
|
NM_001042492.3(NF1):c.8400A>G (p.Glu2800=)
|
rs1597883005
|
|
NM_001042492.3(NF1):c.8403C>G (p.Leu2801=)
|
|
|
NM_001042492.3(NF1):c.8406C>T (p.Ser2802=)
|
rs1597883029
|
|
NM_001042492.3(NF1):c.8412C>T (p.Thr2804=)
|
rs1555538531
|
|
NM_001042492.3(NF1):c.8418C>T (p.Gly2806=)
|
rs1555538535
|
|
NM_001042492.3(NF1):c.8427C>T (p.Asn2809=)
|
rs2151601390
|
|
NM_001042492.3(NF1):c.843C>T (p.Ile281=)
|
rs146094856
|
|
NM_001042492.3(NF1):c.8445C>T (p.His2815=)
|
rs1597883082
|
|
NM_001042492.3(NF1):c.8451C>A (p.Ser2817=)
|
|
|
NM_001042492.3(NF1):c.8457C>T (p.Ser2819=)
|
|
|
NM_001042492.3(NF1):c.8460A>G (p.Gln2820=)
|
rs2070696927
|
|
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.8472A>G (p.Gln2824=)
|
rs2151601534
|
|
NM_001042492.3(NF1):c.8481T>C (p.Ala2827=)
|
rs1555538546
|
|
NM_001042492.3(NF1):c.849T>C (p.Asp283=)
|
rs2143786554
|
|
NM_001042492.3(NF1):c.8505T>C (p.Ile2835=)
|
rs1192855534
|
|
NM_001042492.3(NF1):c.8511G>A (p.Lys2837=)
|
rs752398289
|
|
NM_001042492.3(NF1):c.8519G>A (p.Ter2840=)
|
rs2151601679
|
|
NM_001042492.3(NF1):c.855C>T (p.Ser285=)
|
rs1445215573
|
|
NM_001042492.3(NF1):c.864G>T (p.Val288=)
|
rs201181517
|
|
NM_001042492.3(NF1):c.867T>G (p.Val289=)
|
|
|
NM_001042492.3(NF1):c.879C>T (p.Asn293=)
|
rs1597660105
|
|
NM_001042492.3(NF1):c.87C>T (p.Asn29=)
|
rs1060503914
|
|
NM_001042492.3(NF1):c.888+11C>A
|
|
|
NM_001042492.3(NF1):c.888+18A>C
|
rs2143787331
|
|
NM_001042492.3(NF1):c.888+19T>A
|
|
|
NM_001042492.3(NF1):c.888+19T>C
|
|
|
NM_001042492.3(NF1):c.888+3A>G
|
rs2143787137
|
|
NM_001042492.3(NF1):c.888+6G>T
|
rs1555609000
|
|
NM_001042492.3(NF1):c.888+9G>T
|
rs1274043045
|
|
NM_001042492.3(NF1):c.889-16T>C
|
rs2143871571
|
|
NM_001042492.3(NF1):c.889-18T>C
|
|
|
NM_001042492.3(NF1):c.889-19C>T
|
|
|
NM_001042492.3(NF1):c.889-20G>T
|
|
|
NM_001042492.3(NF1):c.889-21C>T
|
|
|
NM_001042492.3(NF1):c.889-22_889-20del
|
|
|
NM_001042492.3(NF1):c.900G>C (p.Leu300=)
|
rs1597680750
|
|
NM_001042492.3(NF1):c.903C>T (p.Asp301=)
|
|
|
NM_001042492.3(NF1):c.906T>C (p.Ser302=)
|
|
|
NM_001042492.3(NF1):c.918T>A (p.Ala306=)
|
|
|
NM_001042492.3(NF1):c.921T>A (p.Leu307=)
|
|
|
NM_001042492.3(NF1):c.930T>C (p.His310=)
|
rs1555610865
|
|
NM_001042492.3(NF1):c.936A>C (p.Gly312=)
|
rs876658874
|
|
NM_001042492.3(NF1):c.942G>A (p.Arg314=)
|
rs786203445
|
|
NM_001042492.3(NF1):c.946C>T (p.Leu316=)
|
|
|
NM_001042492.3(NF1):c.948G>C (p.Leu316=)
|
rs876658782
|
|
NM_001042492.3(NF1):c.951A>G (p.Thr317=)
|
|
|
NM_001042492.3(NF1):c.957T>C (p.Ser319=)
|
rs2143872954
|
|
NM_001042492.3(NF1):c.960T>G (p.Ala320=)
|
rs376447070
|
|
NM_001042492.3(NF1):c.963A>G (p.Ala321=)
|
|
|
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.975C>T (p.Val325=)
|
rs747954452
|
|
NM_001042492.3(NF1):c.978A>G (p.Lys326=)
|
rs1555610891
|
|
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.999C>T (p.Tyr333=)
|
rs1466912192
|
|
NM_001042492.3(NF1):c.9G>A (p.Ala3=)
|
rs2143144452
|
|
NM_001378469.1(BRAF):c.1178-35T>C
|
rs397516887
|
|
NM_002524.5(NRAS):c.*2510_*2515del
|
rs549171175
|
|
NM_002524.5(NRAS):c.*2965del
|
rs61652108
|
|
NM_002524.5(NRAS):c.111+10A>G
|
rs1659156787
|
|
NM_002524.5(NRAS):c.111+14G>T
|
|
|
NM_002524.5(NRAS):c.112-14C>T
|
rs1659101219
|
|
NM_002524.5(NRAS):c.112-14del
|
|
|
NM_002524.5(NRAS):c.112-18del
|
|
|
NM_002524.5(NRAS):c.112-7C>T
|
|
|
NM_002524.5(NRAS):c.157T>C (p.Leu53=)
|
|
|
NM_002524.5(NRAS):c.186A>G (p.Glu62=)
|
|
|
NM_002524.5(NRAS):c.21G>T (p.Val7=)
|
|
|
NM_002524.5(NRAS):c.225C>G (p.Gly75=)
|
|
|
NM_002524.5(NRAS):c.228A>G (p.Glu76=)
|
|
|
NM_002524.5(NRAS):c.264G>A (p.Lys88=)
|
|
|
NM_002524.5(NRAS):c.290+11C>G
|
|
|
NM_002524.5(NRAS):c.290+15A>C
|
rs373417606
|
|
NM_002524.5(NRAS):c.291-11C>A
|
|
|
NM_002524.5(NRAS):c.291-14A>T
|
|
|
NM_002524.5(NRAS):c.291-9C>T
|
|
|
NM_002524.5(NRAS):c.330T>C (p.Pro110=)
|
|
|
NM_002524.5(NRAS):c.443C>T (p.Thr148Ile)
|
|
|
NM_002524.5(NRAS):c.450+7T>C
|
rs2101738586
|
|
NM_002524.5(NRAS):c.451-10C>T
|
rs1463590425
|
|
NM_002524.5(NRAS):c.451-11T>C
|
rs2101737889
|
|
NM_002524.5(NRAS):c.451-12T>C
|
rs2101737890
|
|
NM_002524.5(NRAS):c.451-14T>G
|
rs2101737892
|
|
NM_002524.5(NRAS):c.451-17A>C
|
|
|
NM_002524.5(NRAS):c.451-17A>G
|
rs371334343
|
|
NM_002524.5(NRAS):c.45G>C (p.Gly15=)
|
rs769226183
|
|
NM_002524.5(NRAS):c.465T>G (p.Ala155=)
|
rs909184179
|
|
NM_002524.5(NRAS):c.519C>T (p.Ser173=)
|
|
|
NM_002524.5(NRAS):c.555A>G (p.Pro185=)
|
|
|
NM_002524.5(NRAS):c.558T>C (p.Cys186=)
|
|
|
NM_002524.5(NRAS):c.564G>C (p.Val188=)
|
|
|
NM_002524.5(NRAS):c.66G>A (p.Gln22=)
|
|
|
NM_002524.5(NRAS):c.84T>C (p.Phe28=)
|
|
|
NM_002709.3(PPP1CB):c.31C>G (p.Leu11Val)
|
|
|
NM_002755.4(MAP2K1):c.-220CG[4]
|
rs141005341
|
|
NM_002755.4(MAP2K1):c.1023-17G>C
|
rs759861076
|
|
NM_002755.4(MAP2K1):c.1023-4T>A
|
|
|
NM_002755.4(MAP2K1):c.1035C>T (p.Asn345=)
|
|
|
NM_002755.4(MAP2K1):c.1045A>C (p.Arg349=)
|
rs1595888749
|
|
NM_002755.4(MAP2K1):c.1068+13_1068+15del
|
rs2140684503
|
|
NM_002755.4(MAP2K1):c.1069-11C>A
|
|
|
NM_002755.4(MAP2K1):c.1069-6A>G
|
|
|
NM_002755.4(MAP2K1):c.1069-7del
|
|
|
NM_002755.4(MAP2K1):c.1069-8A>T
|
|
|
NM_002755.4(MAP2K1):c.1072C>T (p.His358Tyr)
|
rs1595889532
|
|
NM_002755.4(MAP2K1):c.1086G>A (p.Lys362=)
|
|
|
NM_002755.4(MAP2K1):c.108G>A (p.Lys36=)
|
rs1269147448
|
|
NM_002755.4(MAP2K1):c.1101G>A (p.Glu367=)
|
|
|
NM_002755.4(MAP2K1):c.1107G>A (p.Val369=)
|
|
|
NM_002755.4(MAP2K1):c.1110T>C (p.Asp370=)
|
|
|
NM_002755.4(MAP2K1):c.1116A>T (p.Ala372=)
|
|
|
NM_002755.4(MAP2K1):c.1125C>G (p.Leu375=)
|
|
|
NM_002755.4(MAP2K1):c.1140C>A (p.Gly380=)
|
|
|
NM_002755.4(MAP2K1):c.1140C>T (p.Gly380=)
|
rs1278357327
|
|
NM_002755.4(MAP2K1):c.1143T>A (p.Leu381=)
|
|
|
NM_002755.4(MAP2K1):c.1146C>T (p.Asn382=)
|
rs2140687038
|
|
NM_002755.4(MAP2K1):c.1176C>T (p.Gly392=)
|
rs781328871
|
|
NM_002755.4(MAP2K1):c.139C>A (p.Arg47=)
|
|
|
NM_002755.4(MAP2K1):c.153G>A (p.Glu51=)
|
|
|
NM_002755.4(MAP2K1):c.15G>A (p.Lys5=)
|
rs2140511623
|
|
NM_002755.4(MAP2K1):c.255C>A (p.Val85=)
|
rs1052147663
|
|
NM_002755.4(MAP2K1):c.288A>G (p.Arg96=)
|
rs2140580028
|
|
NM_002755.4(MAP2K1):c.291+14G>T
|
rs1217523374
|
|
NM_002755.4(MAP2K1):c.291+14_291+16del
|
|
|
NM_002755.4(MAP2K1):c.291+14_291+20delinsTCTCACCAATCACCA
|
rs1064795401
|
|
NM_002755.4(MAP2K1):c.291+15A>C
|
rs1337930990
|
|
NM_002755.4(MAP2K1):c.291+17T>C
|
rs1294983448
|
|
NM_002755.4(MAP2K1):c.291+19A>C
|
rs752759395
|
|
NM_002755.4(MAP2K1):c.291+9G>T
|
|
|
NM_002755.4(MAP2K1):c.292-18T>C
|
|
|
NM_002755.4(MAP2K1):c.292-20T>C
|
|
|
NM_002755.4(MAP2K1):c.333C>T (p.Ile111=)
|
|
|
NM_002755.4(MAP2K1):c.33G>A (p.Leu11=)
|
|
|
NM_002755.4(MAP2K1):c.342G>A (p.Glu114=)
|
rs939141868
|
|
NM_002755.4(MAP2K1):c.396G>C (p.Ala132=)
|
|
|
NM_002755.4(MAP2K1):c.396G>T (p.Ala132=)
|
rs139364105
|
|
NM_002755.4(MAP2K1):c.411C>G (p.Gly137=)
|
|
|
NM_002755.4(MAP2K1):c.420T>C (p.Ser140=)
|
rs2140584315
|
|
NM_002755.4(MAP2K1):c.438+11_438+18del
|
|
|
NM_002755.4(MAP2K1):c.438+13C>T
|
|
|
NM_002755.4(MAP2K1):c.438+15C>T
|
rs1170337728
|
|
NM_002755.4(MAP2K1):c.438+16_438+17del
|
|
|
NM_002755.4(MAP2K1):c.438+9C>A
|
|
|
NM_002755.4(MAP2K1):c.438+9C>T
|
|
|
NM_002755.4(MAP2K1):c.439-8G>C
|
|
|
NM_002755.4(MAP2K1):c.439-8G>T
|
rs747709090
|
|
NM_002755.4(MAP2K1):c.439-9C>T
|
|
|
NM_002755.4(MAP2K1):c.451C>T (p.Leu151=)
|
|
|
NM_002755.4(MAP2K1):c.516+11del
|
|
|
NM_002755.4(MAP2K1):c.516+12A>T
|
|
|
NM_002755.4(MAP2K1):c.516+13T>C
|
|
|
NM_002755.4(MAP2K1):c.516+16A>G
|
rs1001637882
|
|
NM_002755.4(MAP2K1):c.516+17G>A
|
rs2140598431
|
|
NM_002755.4(MAP2K1):c.516+9G>C
|
|
|
NM_002755.4(MAP2K1):c.517-10T>C
|
|
|
NM_002755.4(MAP2K1):c.517-13C>G
|
|
|
NM_002755.4(MAP2K1):c.517-16A>T
|
|
|
NM_002755.4(MAP2K1):c.517-9T>A
|
rs758986316
|
|
NM_002755.4(MAP2K1):c.519A>T (p.Val173=)
|
rs1471931068
|
|
NM_002755.4(MAP2K1):c.525A>G (p.Lys175=)
|
rs1555416880
|
|
NM_002755.4(MAP2K1):c.528C>G (p.Gly176=)
|
|
|
NM_002755.4(MAP2K1):c.537T>C (p.Tyr179=)
|
rs1188803242
|
|
NM_002755.4(MAP2K1):c.546G>A (p.Glu182=)
|
rs1567012356
|
|
NM_002755.4(MAP2K1):c.564C>T (p.His188=)
|
|
|
NM_002755.4(MAP2K1):c.568+9T>A
|
rs748379069
|
|
NM_002755.4(MAP2K1):c.569-11C>T
|
rs1892919708
|
|
NM_002755.4(MAP2K1):c.569-49_569-6del
|
|
|
NM_002755.4(MAP2K1):c.569-4G>A
|
rs2140667203
|
|
NM_002755.4(MAP2K1):c.569-8C>T
|
rs375614631
|
|
NM_002755.4(MAP2K1):c.577C>G (p.Pro193Ala)
|
rs1595884713
|
|
NM_002755.4(MAP2K1):c.589C>T (p.Leu197=)
|
|
|
NM_002755.4(MAP2K1):c.600C>T (p.Ser200=)
|
|
|
NM_002755.4(MAP2K1):c.603T>C (p.Arg201=)
|
|
|
NM_002755.4(MAP2K1):c.606G>A (p.Gly202=)
|
|
|
NM_002755.4(MAP2K1):c.630G>A (p.Gly210=)
|
rs1595884752
|
|
NM_002755.4(MAP2K1):c.63C>T (p.Asn21=)
|
|
|
NM_002755.4(MAP2K1):c.666C>T (p.Ser222=)
|
|
|
NM_002755.4(MAP2K1):c.669C>T (p.Phe223=)
|
|
|
NM_002755.4(MAP2K1):c.693+10G>C
|
|
|
NM_002755.4(MAP2K1):c.693+11A>G
|
|
|
NM_002755.4(MAP2K1):c.693+14T>G
|
|
|
NM_002755.4(MAP2K1):c.694-11C>T
|
|
|
NM_002755.4(MAP2K1):c.694-12TC[4]
|
rs113913469
|
|
NM_002755.4(MAP2K1):c.694-13_694-10del
|
|
|
NM_002755.4(MAP2K1):c.694-16T>A
|
|
|
NM_002755.4(MAP2K1):c.694-16T>C
|
|
|
NM_002755.4(MAP2K1):c.694-19C>T
|
|
|
NM_002755.4(MAP2K1):c.694-5T>G
|
rs1054274808
|
|
NM_002755.4(MAP2K1):c.694-7C>T
|
|
|
NM_002755.4(MAP2K1):c.69C>A (p.Thr23=)
|
|
|
NM_002755.4(MAP2K1):c.6C>G (p.Pro2=)
|
|
|
NM_002755.4(MAP2K1):c.726G>A (p.Val242=)
|
|
|
NM_002755.4(MAP2K1):c.774T>C (p.Val258=)
|
|
|
NM_002755.4(MAP2K1):c.80+16G>C
|
|
|
NM_002755.4(MAP2K1):c.80+18_80+19del
|
|
|
NM_002755.4(MAP2K1):c.81-12A>G
|
|
|
NM_002755.4(MAP2K1):c.81-13C>T
|
|
|
NM_002755.4(MAP2K1):c.81-7G>C
|
|
|
NM_002755.4(MAP2K1):c.828G>A (p.Gly276=)
|
|
|
NM_002755.4(MAP2K1):c.840A>G (p.Glu280=)
|
|
|
NM_002755.4(MAP2K1):c.864C>G (p.Pro288=)
|
|
|
NM_002755.4(MAP2K1):c.872G>A (p.Arg291Lys)
|
rs1595886354
|
|
NM_002755.4(MAP2K1):c.873G>A (p.Arg291=)
|
|
|
NM_002755.4(MAP2K1):c.879C>G (p.Pro293=)
|
rs370521459
|
|
NM_002755.4(MAP2K1):c.87C>T (p.Asn29=)
|
|
|
NM_002755.4(MAP2K1):c.895+12G>A
|
rs2140675512
|
|
NM_002755.4(MAP2K1):c.895+13G>A
|
|
|
NM_002755.4(MAP2K1):c.895+19C>T
|
|
|
NM_002755.4(MAP2K1):c.896-5T>C
|
rs748953467
|
|
NM_002755.4(MAP2K1):c.896-5del
|
rs748946786
|
|
NM_002755.4(MAP2K1):c.896-6T>C
|
|
|
NM_002755.4(MAP2K1):c.939G>A (p.Leu313=)
|
|
|
NM_002755.4(MAP2K1):c.940T>C (p.Leu314=)
|
|
|
NM_002755.4(MAP2K1):c.960+12C>T
|
|
|
NM_002755.4(MAP2K1):c.960+14G>A
|
rs200963333
|
|
NM_002755.4(MAP2K1):c.960+7dup
|
rs1438742251
|
|
NM_002755.4(MAP2K1):c.961-10G>C
|
rs2140682882
|
|
NM_002755.4(MAP2K1):c.961-18C>T
|
rs2140682866
|
|
NM_002755.4(MAP2K1):c.961-19T>C
|
|
|
NM_002755.4(MAP2K1):c.961-6T>C
|
|
|
NM_002755.4(MAP2K1):c.961-8G>T
|
|
|
NM_002755.4(MAP2K1):c.961-8_961-7del
|
|
|
NM_002755.4(MAP2K1):c.96C>T (p.Ala32=)
|
|
|
NM_002755.4(MAP2K1):c.987G>T (p.Val329=)
|
|
|
NM_002755.4(MAP2K1):c.99G>A (p.Leu33=)
|
|
|
NM_002755.4(MAP2K1):c.9G>A (p.Lys3=)
|
|
|
NM_002834.5(PTPN11):c.*1157ATG[14]
|
rs80269561
|
|
NM_002834.5(PTPN11):c.*1536T>C
|
rs371375321
|
|
NM_002834.5(PTPN11):c.*2629A>G
|
rs141655134
|
|
NM_002834.5(PTPN11):c.1008C>T (p.Asn336=)
|
rs2038532919
|
|
NM_002834.5(PTPN11):c.1017T>C (p.Asn339=)
|
|
|
NM_002834.5(PTPN11):c.1052G>A (p.Arg351Gln)
|
rs397507534
|
|
NM_002834.5(PTPN11):c.1071G>C (p.Thr357=)
|
rs779125362
|
|
NM_002834.5(PTPN11):c.1086A>G (p.Arg362=)
|
|
|
NM_002834.5(PTPN11):c.108T>C (p.Ser36=)
|
|
|
NM_002834.5(PTPN11):c.1092+16T>C
|
|
|
NM_002834.5(PTPN11):c.1092+18C>A
|
|
|
NM_002834.5(PTPN11):c.1093-12G>T
|
rs2038604762
|
|
NM_002834.5(PTPN11):c.1098A>G (p.Lys366=)
|
rs2135906673
|
|
NM_002834.5(PTPN11):c.10C>A (p.Arg4=)
|
rs886041517
|
|
NM_002834.5(PTPN11):c.1104C>T (p.Val368=)
|
|
|
NM_002834.5(PTPN11):c.1129C>T (p.Leu377=)
|
|
|
NM_002834.5(PTPN11):c.117A>C (p.Gly39=)
|
rs779813529
|
|
NM_002834.5(PTPN11):c.1191G>T (p.Thr397=)
|
rs775571445
|
|
NM_002834.5(PTPN11):c.1224+14C>T
|
|
|
NM_002834.5(PTPN11):c.1224+7A>G
|
|
|
NM_002834.5(PTPN11):c.1224+7A>T
|
rs1222805966
|
|
NM_002834.5(PTPN11):c.1225-7A>C
|
|
|
NM_002834.5(PTPN11):c.1225-7A>G
|
rs727504397
|
|
NM_002834.5(PTPN11):c.1225-9C>G
|
|
|
NM_002834.5(PTPN11):c.1242G>A (p.Thr414=)
|
|
|
NM_002834.5(PTPN11):c.1242G>C (p.Thr414=)
|
rs552394167
|
|
NM_002834.5(PTPN11):c.1242G>T (p.Thr414=)
|
rs552394167
|
|
NM_002834.5(PTPN11):c.1266C>G (p.Thr422=)
|
rs759848374
|
|
NM_002834.5(PTPN11):c.1281C>T (p.Gly427=)
|
rs753173299
|
|
NM_002834.5(PTPN11):c.1290C>T (p.Ser430=)
|
|
|
NM_002834.5(PTPN11):c.1302C>A (p.Gly434=)
|
|
|
NM_002834.5(PTPN11):c.1320G>A (p.Glu440=)
|
|
|
NM_002834.5(PTPN11):c.1329C>T (p.His443=)
|
|
|
NM_002834.5(PTPN11):c.1338G>A (p.Gln446=)
|
|
|
NM_002834.5(PTPN11):c.1356A>G (p.Ala452=)
|
rs1391230822
|
|
NM_002834.5(PTPN11):c.1362G>T (p.Pro454=)
|
|
|
NM_002834.5(PTPN11):c.1379+18C>T
|
|
|
NM_002834.5(PTPN11):c.1379+9T>A
|
|
|
NM_002834.5(PTPN11):c.1380-11T>C
|
|
|
NM_002834.5(PTPN11):c.1380-4G>T
|
rs750640531
|
|
NM_002834.5(PTPN11):c.14+12C>G
|
|
|
NM_002834.5(PTPN11):c.14+12C>T
|
|
|
NM_002834.5(PTPN11):c.14+15G>A
|
|
|
NM_002834.5(PTPN11):c.14+15_14+31dup
|
|
|
NM_002834.5(PTPN11):c.14+25_14+41del
|
rs772900183
|
|
NM_002834.5(PTPN11):c.14+8G>C
|
|
|
NM_002834.5(PTPN11):c.14+9C>A
|
rs2135817527
|
|
NM_002834.5(PTPN11):c.14+9C>T
|
|
|
NM_002834.5(PTPN11):c.1402A>T (p.Thr468Ser)
|
|
|
NM_002834.5(PTPN11):c.1410T>C (p.Ile470=)
|
|
|
NM_002834.5(PTPN11):c.1425T>C (p.Leu475=)
|
rs746719818
|
|
NM_002834.5(PTPN11):c.1447+17G>A
|
|
|
NM_002834.5(PTPN11):c.1447+20del
|
|
|
NM_002834.5(PTPN11):c.1448-13G>A
|
|
|
NM_002834.5(PTPN11):c.1448-15_1448-13del
|
rs775920290
|
|
NM_002834.5(PTPN11):c.1448-16G>A
|
|
|
NM_002834.5(PTPN11):c.1448-17T>C
|
|
|
NM_002834.5(PTPN11):c.1448-5C>T
|
rs554790621
|
|
NM_002834.5(PTPN11):c.1448-7T>G
|
|
|
NM_002834.5(PTPN11):c.1458C>T (p.Cys486=)
|
|
|
NM_002834.5(PTPN11):c.1461T>C (p.Asp487=)
|
|
|
NM_002834.5(PTPN11):c.1479C>T (p.Thr493=)
|
|
|
NM_002834.5(PTPN11):c.15-15G>A
|
|
|
NM_002834.5(PTPN11):c.15-15_15-12del
|
|
|
NM_002834.5(PTPN11):c.15-16T>C
|
rs1049293041
|
|
NM_002834.5(PTPN11):c.15-20A>G
|
rs2135856230
|
|
NM_002834.5(PTPN11):c.1515C>T (p.Val505=)
|
|
|
NM_002834.5(PTPN11):c.1530G>A (p.Gln510=)
|
|
|
NM_002834.5(PTPN11):c.1533C>T (p.Tyr511=)
|
|
|
NM_002834.5(PTPN11):c.1578G>A (p.Gln526=)
|
|
|
NM_002834.5(PTPN11):c.1599+17T>A
|
rs952059247
|
|
NM_002834.5(PTPN11):c.1599+17T>C
|
|
|
NM_002834.5(PTPN11):c.1599+18G>A
|
rs2135916843
|
|
NM_002834.5(PTPN11):c.1599+20C>A
|
rs2135916858
|
|
NM_002834.5(PTPN11):c.1599+7G>C
|
|
|
NM_002834.5(PTPN11):c.1599+7G>T
|
|
|
NM_002834.5(PTPN11):c.1599+9C>T
|
|
|
NM_002834.5(PTPN11):c.1600-14C>T
|
rs568632219
|
|
NM_002834.5(PTPN11):c.1600-17A>G
|
|
|
NM_002834.5(PTPN11):c.1600-8A>T
|
rs2038881415
|
|
NM_002834.5(PTPN11):c.1609A>C (p.Arg537=)
|
|
|
NM_002834.5(PTPN11):c.1623A>G (p.Glu541=)
|
|
|
NM_002834.5(PTPN11):c.1635T>C (p.Ile545=)
|
rs1166186438
|
|
NM_002834.5(PTPN11):c.1680C>T (p.Leu560=)
|
|
|
NM_002834.5(PTPN11):c.1704C>T (p.Pro568=)
|
|
|
NM_002834.5(PTPN11):c.1712+11C>T
|
|
|
NM_002834.5(PTPN11):c.1712+15A>T
|
|
|
NM_002834.5(PTPN11):c.1712+9T>G
|
|
|
NM_002834.5(PTPN11):c.1731T>G (p.Ala577=)
|
rs2135930829
|
|
NM_002834.5(PTPN11):c.198T>C (p.Tyr66=)
|
|
|
NM_002834.5(PTPN11):c.210A>G (p.Lys70=)
|
|
|
NM_002834.5(PTPN11):c.222G>A (p.Leu74=)
|
rs1429492147
|
|
NM_002834.5(PTPN11):c.228G>A (p.Glu76=)
|
|
|
NM_002834.5(PTPN11):c.294T>G (p.Leu98=)
|
|
|
NM_002834.5(PTPN11):c.312T>C (p.Cys104=)
|
rs1026762762
|
|
NM_002834.5(PTPN11):c.332+7A>T
|
|
|
NM_002834.5(PTPN11):c.333-11A>G
|
|
|
NM_002834.5(PTPN11):c.333-18A>T
|
|
|
NM_002834.5(PTPN11):c.342T>C (p.His114=)
|
|
|
NM_002834.5(PTPN11):c.351C>G (p.Leu117=)
|
|
|
NM_002834.5(PTPN11):c.354T>G (p.Ser118=)
|
|
|
NM_002834.5(PTPN11):c.363A>G (p.Glu121=)
|
rs2135866636
|
|
NM_002834.5(PTPN11):c.36T>C (p.Thr12=)
|
rs760086740
|
|
NM_002834.5(PTPN11):c.381T>C (p.Thr127=)
|
rs757004128
|
|
NM_002834.5(PTPN11):c.384A>G (p.Glu128=)
|
|
|
NM_002834.5(PTPN11):c.42G>A (p.Val14=)
|
|
|
NM_002834.5(PTPN11):c.507T>C (p.His169=)
|
rs2135867467
|
|
NM_002834.5(PTPN11):c.519C>G (p.Arg173=)
|
rs767425313
|
|
NM_002834.5(PTPN11):c.525+11A>G
|
rs775512160
|
|
NM_002834.5(PTPN11):c.525+16A>T
|
|
|
NM_002834.5(PTPN11):c.525+19A>G
|
|
|
NM_002834.5(PTPN11):c.526-14G>A
|
|
|
NM_002834.5(PTPN11):c.526-18_526-17del
|
rs1471067408
|
|
NM_002834.5(PTPN11):c.526-20T>C
|
rs774566320
|
|
NM_002834.5(PTPN11):c.528A>G (p.Glu176=)
|
|
|
NM_002834.5(PTPN11):c.53A>G (p.Asn18Ser)
|
rs587778635
|
|
NM_002834.5(PTPN11):c.567T>C (p.Ser189=)
|
rs2135869537
|
|
NM_002834.5(PTPN11):c.570G>A (p.Leu190=)
|
|
|
NM_002834.5(PTPN11):c.60G>A (p.Leu20=)
|
|
|
NM_002834.5(PTPN11):c.615A>G (p.Thr205=)
|
rs1592830197
|
|
NM_002834.5(PTPN11):c.624A>G (p.Thr208=)
|
rs864622409
|
|
NM_002834.5(PTPN11):c.636C>A (p.Leu212=)
|
|
|
NM_002834.5(PTPN11):c.636C>G (p.Leu212=)
|
rs1592830239
|
|
NM_002834.5(PTPN11):c.642+17G>A
|
|
|
NM_002834.5(PTPN11):c.642+19T>G
|
|
|
NM_002834.5(PTPN11):c.643-17C>T
|
|
|
NM_002834.5(PTPN11):c.643-6G>A
|
rs780387568
|
|
NM_002834.5(PTPN11):c.643-6G>T
|
rs780387568
|
|
NM_002834.5(PTPN11):c.643-8T>C
|
|
|
NM_002834.5(PTPN11):c.645C>A (p.Pro215=)
|
|
|
NM_002834.5(PTPN11):c.645C>G (p.Pro215=)
|
|
|
NM_002834.5(PTPN11):c.654G>A (p.Thr218=)
|
|
|
NM_002834.5(PTPN11):c.696A>G (p.Glu232=)
|
|
|
NM_002834.5(PTPN11):c.697C>T (p.Leu233=)
|
|
|
NM_002834.5(PTPN11):c.6A>G (p.Thr2=)
|
rs768238710
|
|
NM_002834.5(PTPN11):c.756+16A>G
|
|
|
NM_002834.5(PTPN11):c.756+16A>T
|
|
|
NM_002834.5(PTPN11):c.756+18T>C
|
|
|
NM_002834.5(PTPN11):c.756+19G>A
|
|
|
NM_002834.5(PTPN11):c.756+22_756+36del
|
|
|
NM_002834.5(PTPN11):c.757-12C>G
|
|
|
NM_002834.5(PTPN11):c.825C>T (p.Asn275=)
|
|
|
NM_002834.5(PTPN11):c.853+12T>C
|
|
|
NM_002834.5(PTPN11):c.853+14T>G
|
|
|
NM_002834.5(PTPN11):c.853+18G>T
|
|
|
NM_002834.5(PTPN11):c.853+19C>T
|
|
|
NM_002834.5(PTPN11):c.854-13_854-12del
|
|
|
NM_002834.5(PTPN11):c.854-15C>T
|
|
|
NM_002834.5(PTPN11):c.854-17G>A
|
|
|
NM_002834.5(PTPN11):c.861T>C (p.His287=)
|
|
|
NM_002834.5(PTPN11):c.882T>C (p.Asp294=)
|
|
|
NM_002834.5(PTPN11):c.912C>T (p.Tyr304=)
|
|
|
NM_002834.5(PTPN11):c.915C>T (p.Ile305=)
|
rs2038528739
|
|
NM_002834.5(PTPN11):c.933+25T>C
|
rs727505386
|
|
NM_002834.5(PTPN11):c.933+7T>G
|
|
|
NM_002834.5(PTPN11):c.933+8T>C
|
|
|
NM_002834.5(PTPN11):c.934-10A>G
|
|
|
NM_002834.5(PTPN11):c.934-12del
|
|
|
NM_002834.5(PTPN11):c.948C>G (p.Thr316=)
|
|
|
NM_002834.5(PTPN11):c.984T>C (p.Ile328=)
|
|
|
NM_002834.5(PTPN11):c.99T>C (p.Pro33=)
|
rs2135856472
|
|
NM_002880.3(RAF1):c.-340_-339GA[1]
|
rs527774250
|
|
NM_002880.3(RAF1):c.1804-11_1804-7dup
|
rs727503382
|
|
NM_002880.4(RAF1):c.*606A>G
|
rs556460176
|
|
NM_002880.4(RAF1):c.-204G>C
|
rs547543588
|
|
NM_002880.4(RAF1):c.-267G>A
|
rs116247741
|
|
NM_002880.4(RAF1):c.1023T>C (p.Tyr341=)
|
|
|
NM_002880.4(RAF1):c.1047G>A (p.Val349=)
|
rs2058798173
|
|
NM_002880.4(RAF1):c.1086T>C (p.Thr362=)
|
rs11549991
|
|
NM_002880.4(RAF1):c.108T>C (p.Phe36=)
|
rs2125453203
|
|
NM_002880.4(RAF1):c.1108+14C>G
|
|
|
NM_002880.4(RAF1):c.1108+18C>T
|
|
|
NM_002880.4(RAF1):c.1108+9_1108+21del
|
rs727504451
|
|
NM_002880.4(RAF1):c.1119A>G (p.Ala373=)
|
|
|
NM_002880.4(RAF1):c.1137T>G (p.Val379=)
|
rs371309088
|
|
NM_002880.4(RAF1):c.113A>C (p.Tyr38Ser)
|
rs576041742
|
|
NM_002880.4(RAF1):c.113A>G (p.Tyr38Cys)
|
|
|
NM_002880.4(RAF1):c.1155G>A (p.Glu385=)
|
rs2125347536
|
|
NM_002880.4(RAF1):c.1172G>T (p.Arg391Met)
|
rs587782972
|
|
NM_002880.4(RAF1):c.1176T>C (p.Asn392=)
|
rs2125347213
|
|
NM_002880.4(RAF1):c.1185T>A (p.Ala395=)
|
|
|
NM_002880.4(RAF1):c.1193+13C>T
|
|
|
NM_002880.4(RAF1):c.1193+14T>G
|
|
|
NM_002880.4(RAF1):c.1193+18G>A
|
rs201845942
|
|
NM_002880.4(RAF1):c.1193+8G>A
|
|
|
NM_002880.4(RAF1):c.1194-12del
|
|
|
NM_002880.4(RAF1):c.1194-13C>T
|
|
|
NM_002880.4(RAF1):c.1194-15C>G
|
|
|
NM_002880.4(RAF1):c.1194-15C>T
|
|
|
NM_002880.4(RAF1):c.1194-17TCCCC[4]
|
rs2058496555
|
|
NM_002880.4(RAF1):c.1194-23CT[2]
|
|
|
NM_002880.4(RAF1):c.1194-6C>T
|
|
|
NM_002880.4(RAF1):c.1194-7T>C
|
rs2125343717
|
|
NM_002880.4(RAF1):c.1206T>C (p.His402=)
|
|
|
NM_002880.4(RAF1):c.120C>T (p.Arg40=)
|
rs1356157276
|
|
NM_002880.4(RAF1):c.122G>T (p.Arg41Leu)
|
rs145611571
|
|
NM_002880.4(RAF1):c.1248C>T (p.Asn416=)
|
rs1294314820
|
|
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile)
|
rs876657965
|
|
NM_002880.4(RAF1):c.1281C>T (p.Ser427=)
|
rs769223562
|
|
NM_002880.4(RAF1):c.1287C>T (p.Leu429=)
|
rs2125343190
|
|
NM_002880.4(RAF1):c.1296C>T (p.His432=)
|
rs2058492335
|
|
NM_002880.4(RAF1):c.1311G>A (p.Glu437=)
|
|
|
NM_002880.4(RAF1):c.1314C>G (p.Thr438=)
|
|
|
NM_002880.4(RAF1):c.1314C>T (p.Thr438=)
|
rs147547744
|
|
NM_002880.4(RAF1):c.1317G>A (p.Lys439=)
|
rs1463012063
|
|
NM_002880.4(RAF1):c.1329C>T (p.Phe443=)
|
rs2125342917
|
|
NM_002880.4(RAF1):c.1332G>A (p.Gln444=)
|
|
|
NM_002880.4(RAF1):c.1356G>A (p.Thr452=)
|
rs766112769
|
|
NM_002880.4(RAF1):c.1370+10T>C
|
|
|
NM_002880.4(RAF1):c.1370+11G>T
|
|
|
NM_002880.4(RAF1):c.1370+15T>G
|
|
|
NM_002880.4(RAF1):c.1370+17A>G
|
|
|
NM_002880.4(RAF1):c.1371-13T>C
|
rs2125332093
|
|
NM_002880.4(RAF1):c.1371-18T>C
|
|
|
NM_002880.4(RAF1):c.1371-20A>G
|
|
|
NM_002880.4(RAF1):c.1371-4A>G
|
|
|
NM_002880.4(RAF1):c.1371-8C>A
|
|
|
NM_002880.4(RAF1):c.1371-8C>T
|
|
|
NM_002880.4(RAF1):c.1413C>T (p.Ser471=)
|
|
|
NM_002880.4(RAF1):c.1417+10G>A
|
rs764906530
|
|
NM_002880.4(RAF1):c.1417+10G>C
|
|
|
NM_002880.4(RAF1):c.1417+15_1417+17del
|
|
|
NM_002880.4(RAF1):c.1418-9A>G
|
|
|
NM_002880.4(RAF1):c.1428C>T (p.Leu476=)
|
|
|
NM_002880.4(RAF1):c.1479G>A (p.Lys493=)
|
rs2125326056
|
|
NM_002880.4(RAF1):c.1536+10T>C
|
|
|
NM_002880.4(RAF1):c.1537-10dup
|
|
|
NM_002880.4(RAF1):c.1537-13G>C
|
|
|
NM_002880.4(RAF1):c.1537-17T>C
|
|
|
NM_002880.4(RAF1):c.1537-19C>T
|
|
|
NM_002880.4(RAF1):c.1537-4G>A
|
|
|
NM_002880.4(RAF1):c.1537-5T>C
|
|
|
NM_002880.4(RAF1):c.1537-8A>G
|
|
|
NM_002880.4(RAF1):c.1537-9T>C
|
|
|
NM_002880.4(RAF1):c.1548G>A (p.Val516=)
|
|
|
NM_002880.4(RAF1):c.1551C>T (p.Ile517=)
|
|
|
NM_002880.4(RAF1):c.1566C>T (p.Asn522=)
|
|
|
NM_002880.4(RAF1):c.1575C>T (p.Phe525=)
|
|
|
NM_002880.4(RAF1):c.1587G>C (p.Ser529=)
|
|
|
NM_002880.4(RAF1):c.1612T>C (p.Leu538=)
|
|
|
NM_002880.4(RAF1):c.1629G>A (p.Thr543=)
|
rs5746244
|
|
NM_002880.4(RAF1):c.1629G>C (p.Thr543=)
|
rs5746244
|
|
NM_002880.4(RAF1):c.1632G>C (p.Gly544=)
|
|
|
NM_002880.4(RAF1):c.1638T>G (p.Leu546=)
|
rs761263229
|
|
NM_002880.4(RAF1):c.1641T>A (p.Pro547=)
|
rs2125321847
|
|
NM_002880.4(RAF1):c.1644T>C (p.Tyr548=)
|
|
|
NM_002880.4(RAF1):c.1660C>A (p.Arg554=)
|
rs925151637
|
|
NM_002880.4(RAF1):c.1668+10_1668+11del
|
rs730880997
|
|
NM_002880.4(RAF1):c.1668+15G>A
|
|
|
NM_002880.4(RAF1):c.1668+19G>A
|
rs5746245
|
|
NM_002880.4(RAF1):c.1668+19G>C
|
|
|
NM_002880.4(RAF1):c.1668+9G>C
|
|
|
NM_002880.4(RAF1):c.1695T>C (p.Tyr565=)
|
rs397516817
|
|
NM_002880.4(RAF1):c.1704A>G (p.Pro568=)
|
rs1575530495
|
|
NM_002880.4(RAF1):c.1710T>G (p.Leu570=)
|
rs886038867
|
|
NM_002880.4(RAF1):c.1713T>C (p.Ser571=)
|
|
|
NM_002880.4(RAF1):c.1719A>G (p.Leu573=)
|
|
|
NM_002880.4(RAF1):c.1725G>A (p.Lys575=)
|
|
|
NM_002880.4(RAF1):c.1734C>T (p.Pro578=)
|
|
|
NM_002880.4(RAF1):c.1764T>C (p.Cys588=)
|
|
|
NM_002880.4(RAF1):c.1794T>A (p.Leu598=)
|
rs2125319247
|
|
NM_002880.4(RAF1):c.1803+13del
|
|
|
NM_002880.4(RAF1):c.1803+16G>A
|
|
|
NM_002880.4(RAF1):c.1803+18T>C
|
|
|
NM_002880.4(RAF1):c.1803+20G>C
|
|
|
NM_002880.4(RAF1):c.1803+20_1803+30del
|
|
|
NM_002880.4(RAF1):c.1803+9C>T
|
rs2125319153
|
|
NM_002880.4(RAF1):c.1804-13G>C
|
|
|
NM_002880.4(RAF1):c.1804-16T>G
|
|
|
NM_002880.4(RAF1):c.1804-7G>C
|
|
|
NM_002880.4(RAF1):c.1804-7_1804-4del
|
|
|
NM_002880.4(RAF1):c.1804-9_1804-8del
|
rs760958166
|
|
NM_002880.4(RAF1):c.1806C>A (p.Ile602=)
|
|
|
NM_002880.4(RAF1):c.1807C>T (p.Leu603=)
|
rs1420280008
|
|
NM_002880.4(RAF1):c.1836T>C (p.Ser612=)
|
|
|
NM_002880.4(RAF1):c.1842G>A (p.Pro614=)
|
rs200235582
|
|
NM_002880.4(RAF1):c.1842G>C (p.Pro614=)
|
rs200235582
|
|
NM_002880.4(RAF1):c.1848C>T (p.Ile616=)
|
|
|
NM_002880.4(RAF1):c.1854G>C (p.Arg618=)
|
|
|
NM_002880.4(RAF1):c.1863C>G (p.Ser621=)
|
|
|
NM_002880.4(RAF1):c.1863C>T (p.Ser621=)
|
rs140756812
|
|
NM_002880.4(RAF1):c.1869A>G (p.Pro623=)
|
|
|
NM_002880.4(RAF1):c.1875G>A (p.Leu625=)
|
|
|
NM_002880.4(RAF1):c.1896G>A (p.Glu632=)
|
|
|
NM_002880.4(RAF1):c.1899T>C (p.Asp633=)
|
rs1286582905
|
|
NM_002880.4(RAF1):c.189G>A (p.Pro63=)
|
|
|
NM_002880.4(RAF1):c.1905T>C (p.Asn635=)
|
rs2125316071
|
|
NM_002880.4(RAF1):c.1917G>A (p.Leu639=)
|
|
|
NM_002880.4(RAF1):c.1926C>G (p.Ser642=)
|
|
|
NM_002880.4(RAF1):c.192C>T (p.Asn64=)
|
rs938635028
|
|
NM_002880.4(RAF1):c.1938T>C (p.Pro646=)
|
|
|
NM_002880.4(RAF1):c.1947G>A (p.Ter649=)
|
rs1471833190
|
|
NM_002880.4(RAF1):c.207+12T>C
|
rs2125452635
|
|
NM_002880.4(RAF1):c.207+16A>G
|
|
|
NM_002880.4(RAF1):c.207+20A>C
|
|
|
NM_002880.4(RAF1):c.208-12C>T
|
rs2125431728
|
|
NM_002880.4(RAF1):c.208-13C>T
|
|
|
NM_002880.4(RAF1):c.208-18G>A
|
|
|
NM_002880.4(RAF1):c.208-19G>T
|
|
|
NM_002880.4(RAF1):c.208-4G>T
|
rs751334223
|
|
NM_002880.4(RAF1):c.210C>G (p.Val70=)
|
|
|
NM_002880.4(RAF1):c.216G>A (p.Val72=)
|
|
|
NM_002880.4(RAF1):c.21T>C (p.Ala7=)
|
rs886057915
|
|
NM_002880.4(RAF1):c.220A>G (p.Asn74Asp)
|
|
|
NM_002880.4(RAF1):c.231C>T (p.Ser77=)
|
rs1450510914
|
|
NM_002880.4(RAF1):c.234G>A (p.Leu78=)
|
rs2125431268
|
|
NM_002880.4(RAF1):c.237T>C (p.His79=)
|
rs876661384
|
|
NM_002880.4(RAF1):c.258C>T (p.Leu86=)
|
rs1575588814
|
|
NM_002880.4(RAF1):c.264G>A (p.Val88=)
|
rs1189963978
|
|
NM_002880.4(RAF1):c.270C>G (p.Gly90=)
|
|
|
NM_002880.4(RAF1):c.271C>T (p.Leu91=)
|
|
|
NM_002880.4(RAF1):c.276A>G (p.Gln92=)
|
rs876657568
|
|
NM_002880.4(RAF1):c.285C>T (p.Cys95=)
|
|
|
NM_002880.4(RAF1):c.291A>G (p.Ala97=)
|
|
|
NM_002880.4(RAF1):c.306C>G (p.Leu102=)
|
rs1559438324
|
|
NM_002880.4(RAF1):c.30G>A (p.Thr10=)
|
rs140806518
|
|
NM_002880.4(RAF1):c.320+17C>A
|
rs897042666
|
|
NM_002880.4(RAF1):c.321-14dup
|
rs202103447
|
|
NM_002880.4(RAF1):c.321-4C>G
|
|
|
NM_002880.4(RAF1):c.321-4C>T
|
rs1455608046
|
|
NM_002880.4(RAF1):c.321-5T>A
|
|
|
NM_002880.4(RAF1):c.339T>C (p.Asp113=)
|
rs765774358
|
|
NM_002880.4(RAF1):c.33C>T (p.Ile11=)
|
|
|
NM_002880.4(RAF1):c.423+19_423+23del
|
|
|
NM_002880.4(RAF1):c.423+9C>A
|
rs1575583635
|
|
NM_002880.4(RAF1):c.423+9C>G
|
|
|
NM_002880.4(RAF1):c.424-11T>C
|
rs2125417295
|
|
NM_002880.4(RAF1):c.424-14T>C
|
|
|
NM_002880.4(RAF1):c.424-16T>C
|
|
|
NM_002880.4(RAF1):c.424-5_424-3del
|
rs764020787
|
|
NM_002880.4(RAF1):c.42T>G (p.Gly14=)
|
|
|
NM_002880.4(RAF1):c.48A>T (p.Gly16=)
|
|
|
NM_002880.4(RAF1):c.492A>G (p.Arg164=)
|
rs2059120434
|
|
NM_002880.4(RAF1):c.505G>C (p.Gly169Arg)
|
rs886039607
|
|
NM_002880.4(RAF1):c.540A>G (p.Val180=)
|
rs2125416564
|
|
NM_002880.4(RAF1):c.543T>C (p.Pro181=)
|
|
|
NM_002880.4(RAF1):c.579C>T (p.Leu193=)
|
rs751223840
|
|
NM_002880.4(RAF1):c.581+8A>G
|
|
|
NM_002880.4(RAF1):c.582-10T>C
|
|
|
NM_002880.4(RAF1):c.582-17T>C
|
|
|
NM_002880.4(RAF1):c.582-6G>A
|
rs1359910278
|
|
NM_002880.4(RAF1):c.582-7T>G
|
rs2125407243
|
|
NM_002880.4(RAF1):c.60C>G (p.Ala20=)
|
rs755869970
|
|
NM_002880.4(RAF1):c.60C>T (p.Ala20=)
|
rs755869970
|
|
NM_002880.4(RAF1):c.612T>C (p.Ser204=)
|
rs2125406930
|
|
NM_002880.4(RAF1):c.630T>C (p.Pro210=)
|
|
|
NM_002880.4(RAF1):c.662T>C (p.Val221Ala)
|
|
|
NM_002880.4(RAF1):c.680+11A>G
|
rs868108376
|
|
NM_002880.4(RAF1):c.681-17T>A
|
rs2125398958
|
|
NM_002880.4(RAF1):c.681-17T>G
|
|
|
NM_002880.4(RAF1):c.681-20A>G
|
|
|
NM_002880.4(RAF1):c.681-4C>T
|
|
|
NM_002880.4(RAF1):c.681-5_681-3del
|
rs1553613814
|
|
NM_002880.4(RAF1):c.684T>G (p.Ser228=)
|
rs1488871333
|
|
NM_002880.4(RAF1):c.723C>T (p.Asn241=)
|
|
|
NM_002880.4(RAF1):c.72C>T (p.Gly24=)
|
rs1575600507
|
|
NM_002880.4(RAF1):c.735C>G (p.Pro245=)
|
|
|
NM_002880.4(RAF1):c.738A>G (p.Ser246=)
|
|
|
NM_002880.4(RAF1):c.774A>G (p.Thr258=)
|
|
|
NM_002880.4(RAF1):c.786T>C (p.Asn262=)
|
|
|
NM_002880.4(RAF1):c.789C>A (p.Val263=)
|
rs1308245149
|
|
NM_002880.4(RAF1):c.789C>G (p.Val263=)
|
rs1308245149
|
|
NM_002880.4(RAF1):c.810G>T (p.Leu270=)
|
|
|
NM_002880.4(RAF1):c.831T>C (p.Ile277=)
|
rs2125396939
|
|
NM_002880.4(RAF1):c.834+10C>T
|
|
|
NM_002880.4(RAF1):c.834+17G>A
|
|
|
NM_002880.4(RAF1):c.834+17G>C
|
|
|
NM_002880.4(RAF1):c.834+20G>T
|
|
|
NM_002880.4(RAF1):c.834+8G>A
|
rs727504615
|
|
NM_002880.4(RAF1):c.835-11T>C
|
|
|
NM_002880.4(RAF1):c.835-16T>C
|
|
|
NM_002880.4(RAF1):c.835-18T>G
|
|
|
NM_002880.4(RAF1):c.835-20G>A
|
rs745899008
|
|
NM_002880.4(RAF1):c.835-8del
|
|
|
NM_002880.4(RAF1):c.844C>A (p.Arg282=)
|
rs755926381
|
|
NM_002880.4(RAF1):c.856G>C (p.Glu286Gln)
|
|
|
NM_002880.4(RAF1):c.862+11A>G
|
|
|
NM_002880.4(RAF1):c.862+12T>C
|
|
|
NM_002880.4(RAF1):c.862+14G>A
|
|
|
NM_002880.4(RAF1):c.862+16C>A
|
|
|
NM_002880.4(RAF1):c.862+17A>G
|
|
|
NM_002880.4(RAF1):c.862+20T>A
|
|
|
NM_002880.4(RAF1):c.862+8T>G
|
|
|
NM_002880.4(RAF1):c.863-15_863-14del
|
rs763572119
|
|
NM_002880.4(RAF1):c.863-16T>G
|
|
|
NM_002880.4(RAF1):c.863-16del
|
rs1194379927
|
|
NM_002880.4(RAF1):c.863-19G>A
|
rs1199187093
|
|
NM_002880.4(RAF1):c.863-21_863-20del
|
|
|
NM_002880.4(RAF1):c.863-6A>G
|
|
|
NM_002880.4(RAF1):c.863-7T>C
|
rs755585693
|
|
NM_002880.4(RAF1):c.868C>A (p.Pro290Thr)
|
|
|
NM_002880.4(RAF1):c.873A>T (p.Ser291=)
|
rs139135606
|
|
NM_002880.4(RAF1):c.876C>T (p.Ala292=)
|
rs397516831
|
|
NM_002880.4(RAF1):c.893A>G (p.Asn298Ser)
|
|
|
NM_002880.4(RAF1):c.903C>T (p.Ser301=)
|
rs2125380691
|
|
NM_002880.4(RAF1):c.909A>G (p.Thr303=)
|
|
|
NM_002880.4(RAF1):c.90T>C (p.Pro30=)
|
|
|
NM_002880.4(RAF1):c.912C>G (p.Gly304=)
|
|
|
NM_002880.4(RAF1):c.931C>T (p.Pro311Ser)
|
|
|
NM_002880.4(RAF1):c.948A>G (p.Arg316=)
|
rs1575564889
|
|
NM_002880.4(RAF1):c.960A>G (p.Pro320=)
|
|
|
NM_002880.4(RAF1):c.990+13A>G
|
|
|
NM_002880.4(RAF1):c.990+16A>G
|
rs2125380028
|
|
NM_002880.4(RAF1):c.990+8T>C
|
|
|
NM_002880.4(RAF1):c.991-11A>G
|
rs1057522961
|
|
NM_002880.4(RAF1):c.991-15C>A
|
|
|
NM_002880.4(RAF1):c.991-16T>A
|
|
|
NM_002880.4(RAF1):c.991-17A>G
|
|
|
NM_002880.4(RAF1):c.991-18G>A
|
|
|
NM_002880.4(RAF1):c.991-20A>G
|
|
|
NM_002880.4(RAF1):c.991-20_991-17del
|
rs2125378816
|
|
NM_002880.4(RAF1):c.993G>A (p.Arg331=)
|
|
|
NM_002880.4(RAF1):c.996T>C (p.Pro332=)
|
rs2125378651
|
|
NM_004333.6(BRAF):c.*111C>T
|
rs539860876
|
|
NM_004333.6(BRAF):c.1002G>A (p.Pro334=)
|
|
|
NM_004333.6(BRAF):c.1029A>G (p.Pro343=)
|
|
|
NM_004333.6(BRAF):c.105C>G (p.Ala35=)
|
rs1320140960
|
|
NM_004333.6(BRAF):c.105C>T (p.Ala35=)
|
|
|
NM_004333.6(BRAF):c.1077A>G (p.Gln359=)
|
|
|
NM_004333.6(BRAF):c.1083C>T (p.Asp361=)
|
rs1802303516
|
|
NM_004333.6(BRAF):c.111G>A (p.Ser37=)
|
rs727502906
|
|
NM_004333.6(BRAF):c.111G>C (p.Ser37=)
|
|
|
NM_004333.6(BRAF):c.1140+13C>T
|
|
|
NM_004333.6(BRAF):c.1141-12A>C
|
rs375704079
|
|
NM_004333.6(BRAF):c.1141-18A>G
|
|
|
NM_004333.6(BRAF):c.1141-4G>A
|
rs1256078767
|
|
NM_004333.6(BRAF):c.1161A>G (p.Gly387=)
|
rs2129031568
|
|
NM_004333.6(BRAF):c.1177+11A>C
|
|
|
NM_004333.6(BRAF):c.1177+13T>C
|
|
|
NM_004333.6(BRAF):c.1177+15C>A
|
|
|
NM_004333.6(BRAF):c.1177+15C>T
|
rs1801515098
|
|
NM_004333.6(BRAF):c.1177+18G>A
|
|
|
NM_004333.6(BRAF):c.1177+18G>T
|
|
|
NM_004333.6(BRAF):c.1177+8G>C
|
|
|
NM_004333.6(BRAF):c.1178-10A>T
|
|
|
NM_004333.6(BRAF):c.1178-7A>G
|
|
|
NM_004333.6(BRAF):c.1182A>C (p.Ser394=)
|
|
|
NM_004333.6(BRAF):c.1200T>A (p.Ala400=)
|
|
|
NM_004333.6(BRAF):c.1203C>A (p.Thr401=)
|
rs370130654
|
|
NM_004333.6(BRAF):c.1203C>T (p.Thr401=)
|
rs370130654
|
|
NM_004333.6(BRAF):c.1206C>A (p.Pro402=)
|
rs201758035
|
|
NM_004333.6(BRAF):c.1206C>T (p.Pro402=)
|
rs201758035
|
|
NM_004333.6(BRAF):c.1230A>C (p.Leu410=)
|
|
|
NM_004333.6(BRAF):c.126C>G (p.Ala42=)
|
|
|
NM_004333.6(BRAF):c.1293C>T (p.Ser431=)
|
rs1482623454
|
|
NM_004333.6(BRAF):c.1302C>T (p.Asp434=)
|
|
|
NM_004333.6(BRAF):c.1310G>A (p.Arg437Gln)
|
rs998233805
|
|
NM_004333.6(BRAF):c.1314+10T>C
|
|
|
NM_004333.6(BRAF):c.1314+13_1314+15del
|
rs771893698
|
|
NM_004333.6(BRAF):c.1314+14A>G
|
|
|
NM_004333.6(BRAF):c.1314+9A>T
|
|
|
NM_004333.6(BRAF):c.1315-12G>C
|
|
|
NM_004333.6(BRAF):c.1315-13T>G
|
|
|
NM_004333.6(BRAF):c.1315-9T>C
|
|
|
NM_004333.6(BRAF):c.132G>C (p.Pro44=)
|
rs889134706
|
|
NM_004333.6(BRAF):c.1330C>A (p.Arg444=)
|
rs121913371
|
|
NM_004333.6(BRAF):c.1335C>T (p.Asp445=)
|
|
|
NM_004333.6(BRAF):c.1365G>T (p.Gly455=)
|
|
|
NM_004333.6(BRAF):c.1368G>A (p.Gln456=)
|
rs767473452
|
|
NM_004333.6(BRAF):c.138+16A>C
|
|
|
NM_004333.6(BRAF):c.138+16A>G
|
|
|
NM_004333.6(BRAF):c.139-16T>C
|
rs1809013029
|
|
NM_004333.6(BRAF):c.1392A>G (p.Gly464=)
|
|
|
NM_004333.6(BRAF):c.1398A>G (p.Gly466=)
|
|
|
NM_004333.6(BRAF):c.141G>T (p.Val47=)
|
|
|
NM_004333.6(BRAF):c.1422A>C (p.Gly474=)
|
|
|
NM_004333.6(BRAF):c.1432+17G>T
|
rs62487919
|
|
NM_004333.6(BRAF):c.1432+17_1432+19del
|
rs777363183
|
|
NM_004333.6(BRAF):c.1433-11T>A
|
|
|
NM_004333.6(BRAF):c.1433-15A>G
|
rs2129019763
|
|
NM_004333.6(BRAF):c.1433-4T>G
|
|
|
NM_004333.6(BRAF):c.1433-7C>T
|
rs1057522055
|
|
NM_004333.6(BRAF):c.1433-9G>A
|
|
|
NM_004333.6(BRAF):c.1443A>C (p.Ala481=)
|
rs2129019701
|
|
NM_004333.6(BRAF):c.1491C>T (p.Ala497=)
|
rs2129019551
|
|
NM_004333.6(BRAF):c.1500T>C (p.Asn500=)
|
|
|
NM_004333.6(BRAF):c.150C>T (p.Ile50=)
|
|
|
NM_004333.6(BRAF):c.1517+9G>A
|
rs956390000
|
|
NM_004333.6(BRAF):c.1517+9G>C
|
rs956390000
|
|
NM_004333.6(BRAF):c.1518-15C>T
|
|
|
NM_004333.6(BRAF):c.1518-17C>A
|
rs1800405621
|
|
NM_004333.6(BRAF):c.1518-17C>T
|
|
|
NM_004333.6(BRAF):c.1518-20T>C
|
|
|
NM_004333.6(BRAF):c.1518-5T>C
|
rs940384157
|
|
NM_004333.6(BRAF):c.1518-6G>T
|
rs1487604495
|
|
NM_004333.6(BRAF):c.1521A>G (p.Lys507=)
|
|
|
NM_004333.6(BRAF):c.1530T>C (p.His510=)
|
rs1800401202
|
|
NM_004333.6(BRAF):c.1533G>A (p.Val511=)
|
rs1345884129
|
|
NM_004333.6(BRAF):c.1536T>C (p.Asn512=)
|
|
|
NM_004333.6(BRAF):c.1539C>A (p.Ile513=)
|
|
|
NM_004333.6(BRAF):c.1542A>G (p.Leu514=)
|
rs2129018564
|
|
NM_004333.6(BRAF):c.1554C>G (p.Gly518=)
|
|
|
NM_004333.6(BRAF):c.1569A>G (p.Pro523=)
|
rs759843625
|
|
NM_004333.6(BRAF):c.1587C>T (p.Thr529=)
|
|
|
NM_004333.6(BRAF):c.15C>T (p.Ser5=)
|
rs1253814897
|
|
NM_004333.6(BRAF):c.1617C>T (p.His539=)
|
|
|
NM_004333.6(BRAF):c.1661T>C (p.Ile554Thr)
|
rs878854675
|
|
NM_004333.6(BRAF):c.1694+11T>C
|
|
|
NM_004333.6(BRAF):c.1694+9C>G
|
|
|
NM_004333.6(BRAF):c.1695-16A>T
|
|
|
NM_004333.6(BRAF):c.1719C>A (p.Ile573=)
|
rs2128999629
|
|
NM_004333.6(BRAF):c.1731C>G (p.Leu577=)
|
|
|
NM_004333.6(BRAF):c.1741+14A>T
|
|
|
NM_004333.6(BRAF):c.1741+15A>C
|
rs750735369
|
|
NM_004333.6(BRAF):c.1741+16T>C
|
|
|
NM_004333.6(BRAF):c.1741+17T>C
|
|
|
NM_004333.6(BRAF):c.1741+19G>T
|
|
|
NM_004333.6(BRAF):c.1741+9C>T
|
|
|
NM_004333.6(BRAF):c.1742-10T>G
|
rs730880411
|
|
NM_004333.6(BRAF):c.1742-12A>G
|
|
|
NM_004333.6(BRAF):c.1767A>C (p.Thr589=)
|
rs1797942787
|
|
NM_004333.6(BRAF):c.1789C>T (p.Leu597=)
|
rs121913369
|
|
NM_004333.6(BRAF):c.1800G>C (p.Val600=)
|
|
|
NM_004333.6(BRAF):c.1837T>C (p.Leu613=)
|
|
|
NM_004333.6(BRAF):c.1860+10G>A
|
|
|
NM_004333.6(BRAF):c.1860+15T>A
|
rs1276648324
|
|
NM_004333.6(BRAF):c.1860+8T>C
|
|
|
NM_004333.6(BRAF):c.1861-15T>C
|
|
|
NM_004333.6(BRAF):c.1861-15T>G
|
|
|
NM_004333.6(BRAF):c.1861-17T>A
|
|
|
NM_004333.6(BRAF):c.1861-18C>G
|
|
|
NM_004333.6(BRAF):c.1861-7C>G
|
|
|
NM_004333.6(BRAF):c.1920T>C (p.Tyr640=)
|
|
|
NM_004333.6(BRAF):c.1932T>C (p.Ile644=)
|
|
|
NM_004333.6(BRAF):c.1944A>G (p.Glu648=)
|
|
|
NM_004333.6(BRAF):c.1945T>C (p.Leu649=)
|
|
|
NM_004333.6(BRAF):c.1971A>C (p.Ser657=)
|
|
|
NM_004333.6(BRAF):c.1980C>T (p.Asn660=)
|
|
|
NM_004333.6(BRAF):c.1984A>C (p.Arg662=)
|
rs2128994297
|
|
NM_004333.6(BRAF):c.1986G>A (p.Arg662=)
|
|
|
NM_004333.6(BRAF):c.1992+16G>C
|
rs3789806
|
|
NM_004333.6(BRAF):c.1992+20T>C
|
rs2128994223
|
|
NM_004333.6(BRAF):c.1992+8T>G
|
|
|
NM_004333.6(BRAF):c.1993-10C>G
|
|
|
NM_004333.6(BRAF):c.1993-10C>T
|
|
|
NM_004333.6(BRAF):c.1993-20C>A
|
|
|
NM_004333.6(BRAF):c.1993-7T>G
|
|
|
NM_004333.6(BRAF):c.1993-8C>T
|
|
|
NM_004333.6(BRAF):c.2010A>T (p.Gly670=)
|
|
|
NM_004333.6(BRAF):c.2070G>A (p.Lys690=)
|
|
|
NM_004333.6(BRAF):c.2109G>A (p.Glu703=)
|
|
|
NM_004333.6(BRAF):c.2127+11G>A
|
|
|
NM_004333.6(BRAF):c.2127+19C>T
|
rs1796757619
|
|
NM_004333.6(BRAF):c.2127+9A>G
|
rs1338359452
|
|
NM_004333.6(BRAF):c.2128-13T>C
|
|
|
NM_004333.6(BRAF):c.2128-16C>T
|
rs368721021
|
|
NM_004333.6(BRAF):c.2128-16_2128-14del
|
rs1585932359
|
|
NM_004333.6(BRAF):c.2128-16_2128-15delinsTC
|
rs2130870208
|
|
NM_004333.6(BRAF):c.2128-16_2128-7del
|
rs766844227
|
|
NM_004333.6(BRAF):c.2128-20_2128-17del
|
|
|
NM_004333.6(BRAF):c.2128-27_2128-18del
|
rs774138098
|
|
NM_004333.6(BRAF):c.2128-27_2128-19del
|
rs761539834
|
|
NM_004333.6(BRAF):c.2128-27_2128-7del
|
rs754390169
|
|
NM_004333.6(BRAF):c.2128-44_2128-18del
|
rs1562931259
|
|
NM_004333.6(BRAF):c.2128-4G>T
|
rs956143558
|
|
NM_004333.6(BRAF):c.2128-5T>C
|
|
|
NM_004333.6(BRAF):c.2128-5del
|
rs373442098
|
|
NM_004333.6(BRAF):c.2128-6_2128-5dup
|
rs373442098
|
|
NM_004333.6(BRAF):c.2128-6_2128-5insTTTTTTTTTC
|
|
|
NM_004333.6(BRAF):c.2133C>T (p.Leu711=)
|
rs2130869623
|
|
NM_004333.6(BRAF):c.2142T>C (p.Ile714=)
|
rs1554388024
|
|
NM_004333.6(BRAF):c.2157C>T (p.Arg719=)
|
rs1796236915
|
|
NM_004333.6(BRAF):c.2190A>G (p.Glu730=)
|
rs1585931446
|
|
NM_004333.6(BRAF):c.21C>A (p.Gly7=)
|
rs1196182256
|
|
NM_004333.6(BRAF):c.21C>T (p.Gly7=)
|
rs1196182256
|
|
NM_004333.6(BRAF):c.2205G>A (p.Arg735=)
|
rs2130868564
|
|
NM_004333.6(BRAF):c.2253A>G (p.Pro751=)
|
|
|
NM_004333.6(BRAF):c.2271A>T (p.Ala757=)
|
|
|
NM_004333.6(BRAF):c.2277A>T (p.Gly759=)
|
|
|
NM_004333.6(BRAF):c.240+13G>A
|
|
|
NM_004333.6(BRAF):c.240+15A>G
|
rs765731817
|
|
NM_004333.6(BRAF):c.240+20A>G
|
|
|
NM_004333.6(BRAF):c.241-13C>T
|
|
|
NM_004333.6(BRAF):c.249A>G (p.Glu83=)
|
|
|
NM_004333.6(BRAF):c.24T>G (p.Gly8=)
|
|
|
NM_004333.6(BRAF):c.276C>T (p.Leu92=)
|
|
|
NM_004333.6(BRAF):c.279A>G (p.Gln93=)
|
rs150050723
|
|
NM_004333.6(BRAF):c.288A>G (p.Glu96=)
|
|
|
NM_004333.6(BRAF):c.291A>G (p.Gln97=)
|
|
|
NM_004333.6(BRAF):c.30C>T (p.Gly10=)
|
|
|
NM_004333.6(BRAF):c.339C>T (p.Ser113=)
|
rs777971698
|
|
NM_004333.6(BRAF):c.33C>T (p.Gly11=)
|
|
|
NM_004333.6(BRAF):c.342T>C (p.Ser114=)
|
|
|
NM_004333.6(BRAF):c.345A>G (p.Ala115=)
|
|
|
NM_004333.6(BRAF):c.345A>T (p.Ala115=)
|
|
|
NM_004333.6(BRAF):c.348A>T (p.Ser116=)
|
|
|
NM_004333.6(BRAF):c.349A>G (p.Met117Val)
|
|
|
NM_004333.6(BRAF):c.363A>G (p.Thr121=)
|
rs1586339911
|
|
NM_004333.6(BRAF):c.411T>G (p.Val137=)
|
rs1586339662
|
|
NM_004333.6(BRAF):c.42G>A (p.Pro14=)
|
|
|
NM_004333.6(BRAF):c.441C>T (p.Ser147=)
|
|
|
NM_004333.6(BRAF):c.468C>T (p.Ile156=)
|
rs1562985327
|
|
NM_004333.6(BRAF):c.471T>A (p.Val157=)
|
rs748370093
|
|
NM_004333.6(BRAF):c.504+18T>C
|
|
|
NM_004333.6(BRAF):c.504+7C>T
|
|
|
NM_004333.6(BRAF):c.504+8A>C
|
|
|
NM_004333.6(BRAF):c.505-20A>G
|
|
|
NM_004333.6(BRAF):c.516G>A (p.Arg172=)
|
|
|
NM_004333.6(BRAF):c.531C>T (p.Val177=)
|
|
|
NM_004333.6(BRAF):c.573C>T (p.Ile191=)
|
|
|
NM_004333.6(BRAF):c.579G>A (p.Glu193=)
|
|
|
NM_004333.6(BRAF):c.57C>T (p.Phe19=)
|
|
|
NM_004333.6(BRAF):c.608+19G>A
|
rs200908826
|
|
NM_004333.6(BRAF):c.608+19G>C
|
rs200908826
|
|
NM_004333.6(BRAF):c.609-13C>G
|
|
|
NM_004333.6(BRAF):c.609-18T>G
|
|
|
NM_004333.6(BRAF):c.609-9A>G
|
|
|
NM_004333.6(BRAF):c.651T>C (p.Leu217=)
|
|
|
NM_004333.6(BRAF):c.679T>C (p.Leu227=)
|
rs2129047891
|
|
NM_004333.6(BRAF):c.68T>A (p.Met23Lys)
|
rs746778122
|
|
NM_004333.6(BRAF):c.696T>C (p.Leu232=)
|
|
|
NM_004333.6(BRAF):c.702A>G (p.Thr234=)
|
|
|
NM_004333.6(BRAF):c.711+7A>T
|
|
|
NM_004333.6(BRAF):c.712-11T>C
|
|
|
NM_004333.6(BRAF):c.712-18_712-17del
|
|
|
NM_004333.6(BRAF):c.712-19G>C
|
|
|
NM_004333.6(BRAF):c.712-21_712-20del
|
rs764713879
|
|
NM_004333.6(BRAF):c.72G>A (p.Glu24=)
|
rs587778114
|
|
NM_004333.6(BRAF):c.738A>G (p.Ala246=)
|
rs1586213511
|
|
NM_004333.6(BRAF):c.75C>G (p.Pro25=)
|
|
|
NM_004333.6(BRAF):c.75C>T (p.Pro25=)
|
|
|
NM_004333.6(BRAF):c.774T>A (p.Gly258=)
|
|
|
NM_004333.6(BRAF):c.789A>C (p.Thr263=)
|
rs986525858
|
|
NM_004333.6(BRAF):c.789A>G (p.Thr263=)
|
|
|
NM_004333.6(BRAF):c.816T>C (p.Cys272=)
|
|
|
NM_004333.6(BRAF):c.822A>C (p.Thr274=)
|
|
|
NM_004333.6(BRAF):c.822A>G (p.Thr274=)
|
rs779713260
|
|
NM_004333.6(BRAF):c.831A>C (p.Pro277=)
|
rs2129044278
|
|
NM_004333.6(BRAF):c.83GCGCCG[1] (p.28GA[1])
|
rs397507458
|
|
NM_004333.6(BRAF):c.83GCGCCG[4] (p.28GA[4])
|
rs397507458
|
|
NM_004333.6(BRAF):c.84C>G (p.Gly28=)
|
|
|
NM_004333.6(BRAF):c.855A>G (p.Gln285=)
|
rs376575252
|
|
NM_004333.6(BRAF):c.858T>G (p.Leu286=)
|
rs758553809
|
|
NM_004333.6(BRAF):c.860+17T>C
|
|
|
NM_004333.6(BRAF):c.915G>T (p.Ala305=)
|
|
|
NM_004333.6(BRAF):c.918C>G (p.Ser306=)
|
rs794727865
|
|
NM_004333.6(BRAF):c.933C>A (p.Ala311=)
|
|
|
NM_004333.6(BRAF):c.93C>G (p.Ala31=)
|
|
|
NM_004333.6(BRAF):c.93C>T (p.Ala31=)
|
|
|
NM_004333.6(BRAF):c.957C>G (p.Ser319=)
|
rs754029526
|
|
NM_004333.6(BRAF):c.960A>G (p.Ala320=)
|
|
|
NM_004333.6(BRAF):c.963C>T (p.Pro321=)
|
|
|
NM_004333.6(BRAF):c.969G>T (p.Ser323=)
|
rs768134774
|
|
NM_004333.6(BRAF):c.96CGC[4] (p.Ala34_Ala35dup)
|
rs2129153215
|
|
NM_004333.6(BRAF):c.972C>T (p.Asp324=)
|
|
|
NM_004333.6(BRAF):c.975T>C (p.Ser325=)
|
|
|
NM_004333.6(BRAF):c.980+17G>C
|
rs2129043563
|
|
NM_004333.6(BRAF):c.980+20C>G
|
|
|
NM_004333.6(BRAF):c.981-16G>C
|
|
|
NM_004333.6(BRAF):c.99C>G (p.Ala33=)
|
|
|
NM_004985.5(KRAS):c.105A>C (p.Thr35=)
|
|
|
NM_004985.5(KRAS):c.111+10G>A
|
|
|
NM_004985.5(KRAS):c.111+16A>G
|
|
|
NM_004985.5(KRAS):c.112-12C>G
|
|
|
NM_004985.5(KRAS):c.112-20C>A
|
|
|
NM_004985.5(KRAS):c.112-9C>T
|
rs727504298
|
|
NM_004985.5(KRAS):c.120C>T (p.Tyr40=)
|
|
|
NM_004985.5(KRAS):c.132A>G (p.Val44=)
|
|
|
NM_004985.5(KRAS):c.141T>C (p.Asp47=)
|
|
|
NM_004985.5(KRAS):c.156C>T (p.Leu52=)
|
|
|
NM_004985.5(KRAS):c.186G>A (p.Glu62=)
|
rs1407455199
|
|
NM_004985.5(KRAS):c.261T>G (p.Thr87=)
|
|
|
NM_004985.5(KRAS):c.290+11A>G
|
|
|
NM_004985.5(KRAS):c.290+18A>G
|
rs1951404839
|
|
NM_004985.5(KRAS):c.290+7T>A
|
|
|
NM_004985.5(KRAS):c.291-10del
|
rs727503991
|
|
NM_004985.5(KRAS):c.291-6del
|
rs1225182964
|
|
NM_004985.5(KRAS):c.372A>G (p.Thr124=)
|
rs2141506083
|
|
NM_004985.5(KRAS):c.375A>G (p.Val125=)
|
|
|
NM_004985.5(KRAS):c.426T>A (p.Ile142=)
|
|
|
NM_004985.5(KRAS):c.432A>G (p.Thr144=)
|
|
|
NM_004985.5(KRAS):c.435A>T (p.Ser145=)
|
|
|
NM_004985.5(KRAS):c.438A>G (p.Ala146=)
|
|
|
NM_004985.5(KRAS):c.451-12T>G
|
|
|
NM_004985.5(KRAS):c.453T>C (p.Gly151=)
|
rs2141481751
|
|
NM_004985.5(KRAS):c.465C>G (p.Ala155=)
|
|
|
NM_004985.5(KRAS):c.481C>A (p.Arg161=)
|
rs1951184515
|
|
NM_004985.5(KRAS):c.498T>C (p.His166=)
|
|
|
NM_004985.5(KRAS):c.507G>A (p.Lys169=)
|
|
|
NM_004985.5(KRAS):c.528GAA[1] (p.Lys180del)
|
rs397517043
|
|
NM_004985.5(KRAS):c.535AAG[1] (p.Lys180del)
|
rs749587181
|
|
NM_004985.5(KRAS):c.54C>T (p.Ala18=)
|
|
|
NM_004985.5(KRAS):c.66G>A (p.Gln22=)
|
|
|
NM_005188.4(CBL):c.*3241dup
|
rs79093187
|
|
NM_005188.4(CBL):c.*5986del
|
rs541615597
|
|
NM_005188.4(CBL):c.*7578TC[1]
|
rs376134331
|
|
NM_005188.4(CBL):c.*8288GTTA[1]
|
rs563997189
|
|
NM_005188.4(CBL):c.1007+16A>G
|
rs1454883852
|
|
NM_005188.4(CBL):c.1007+19C>T
|
|
|
NM_005188.4(CBL):c.1008-11A>C
|
|
|
NM_005188.4(CBL):c.1023T>C (p.Asp341=)
|
rs1368487308
|
|
NM_005188.4(CBL):c.102G>A (p.Gln34=)
|
|
|
NM_005188.4(CBL):c.1062A>G (p.Glu354=)
|
|
|
NM_005188.4(CBL):c.107ACC[6] (p.His42del)
|
rs373212940
|
|
NM_005188.4(CBL):c.107ACC[8] (p.His42dup)
|
rs373212940
|
|
NM_005188.4(CBL):c.1095+10G>T
|
|
|
NM_005188.4(CBL):c.1095+18T>C
|
rs532317818
|
|
NM_005188.4(CBL):c.1096-14T>G
|
|
|
NM_005188.4(CBL):c.1096-17A>T
|
|
|
NM_005188.4(CBL):c.1096-18A>G
|
|
|
NM_005188.4(CBL):c.1096-21_1096-19del
|
|
|
NM_005188.4(CBL):c.1096-5C>T
|
|
|
NM_005188.4(CBL):c.1096-8A>G
|
rs2135303472
|
|
NM_005188.4(CBL):c.1096-9del
|
rs758061092
|
|
NM_005188.4(CBL):c.1104T>C (p.Tyr368=)
|
rs1421407887
|
|
NM_005188.4(CBL):c.1110A>G (p.Leu370=)
|
rs754168206
|
|
NM_005188.4(CBL):c.1125C>T (p.Gly375=)
|
|
|
NM_005188.4(CBL):c.1137A>G (p.Gln379=)
|
rs757933118
|
|
NM_005188.4(CBL):c.1173A>G (p.Val391=)
|
|
|
NM_005188.4(CBL):c.117C>T (p.His39=)
|
|
|
NM_005188.4(CBL):c.1197C>A (p.Leu399=)
|
|
|
NM_005188.4(CBL):c.1209C>T (p.Ser403=)
|
rs978200568
|
|
NM_005188.4(CBL):c.1218A>C (p.Thr406=)
|
rs761053226
|
|
NM_005188.4(CBL):c.1218A>G (p.Thr406=)
|
rs761053226
|
|
NM_005188.4(CBL):c.1227+17C>A
|
|
|
NM_005188.4(CBL):c.1227+17C>T
|
rs749579743
|
|
NM_005188.4(CBL):c.1228-10dup
|
rs397517078
|
|
NM_005188.4(CBL):c.1228-20A>G
|
rs1438346127
|
|
NM_005188.4(CBL):c.1230A>G (p.Glu410=)
|
|
|
NM_005188.4(CBL):c.1248T>C (p.Cys416=)
|
|
|
NM_005188.4(CBL):c.1254C>T (p.Phe418=)
|
rs2135304448
|
|
NM_005188.4(CBL):c.1278T>A (p.Thr426=)
|
|
|
NM_005188.4(CBL):c.1290G>A (p.Val430=)
|
rs1060503996
|
|
NM_005188.4(CBL):c.1296T>C (p.Asp432=)
|
rs1188095865
|
|
NM_005188.4(CBL):c.1299G>C (p.Pro433=)
|
|
|
NM_005188.4(CBL):c.1299G>T (p.Pro433=)
|
|
|
NM_005188.4(CBL):c.129C>T (p.Leu43=)
|
rs1426838858
|
|
NM_005188.4(CBL):c.1323C>T (p.Ser441=)
|
rs1044787155
|
|
NM_005188.4(CBL):c.1327T>C (p.Leu443=)
|
|
|
NM_005188.4(CBL):c.132C>T (p.Ser44=)
|
|
|
NM_005188.4(CBL):c.1365T>C (p.Tyr455=)
|
rs749044865
|
|
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup)
|
rs397507494
|
|
NM_005188.4(CBL):c.1380T>C (p.Asp460=)
|
rs2135304809
|
|
NM_005188.4(CBL):c.1395T>C (p.Asp465=)
|
|
|
NM_005188.4(CBL):c.1401C>A (p.Leu467=)
|
|
|
NM_005188.4(CBL):c.141G>A (p.Pro47=)
|
|
|
NM_005188.4(CBL):c.1431+10C>T
|
|
|
NM_005188.4(CBL):c.1431+15T>C
|
|
|
NM_005188.4(CBL):c.1431+17G>A
|
rs1949909892
|
|
NM_005188.4(CBL):c.1432-5C>G
|
|
|
NM_005188.4(CBL):c.1432-7A>G
|
rs1349100855
|
|
NM_005188.4(CBL):c.1432-9G>T
|
|
|
NM_005188.4(CBL):c.1434G>T (p.Val478=)
|
rs374936250
|
|
NM_005188.4(CBL):c.1443G>A (p.Pro481=)
|
rs768111719
|
|
NM_005188.4(CBL):c.1452A>G (p.Pro484=)
|
|
|
NM_005188.4(CBL):c.1464C>T (p.Ala488=)
|
rs766521315
|
|
NM_005188.4(CBL):c.1507C>T (p.Leu503=)
|
rs1592405051
|
|
NM_005188.4(CBL):c.150G>C (p.Thr50=)
|
|
|
NM_005188.4(CBL):c.1512G>T (p.Pro504=)
|
rs758285751
|
|
NM_005188.4(CBL):c.1521A>T (p.Val507=)
|
|
|
NM_005188.4(CBL):c.1530C>T (p.Pro510=)
|
|
|
NM_005188.4(CBL):c.1554T>A (p.Thr518=)
|
|
|
NM_005188.4(CBL):c.1563+11_1563+17del
|
|
|
NM_005188.4(CBL):c.1563+14C>T
|
|
|
NM_005188.4(CBL):c.1563+15A>G
|
|
|
NM_005188.4(CBL):c.1563+19C>T
|
|
|
NM_005188.4(CBL):c.1563+22_1563+30del
|
|
|
NM_005188.4(CBL):c.1564-11T>G
|
|
|
NM_005188.4(CBL):c.1564-12C>T
|
|
|
NM_005188.4(CBL):c.1564-13_1564-3del
|
rs759801355
|
|
NM_005188.4(CBL):c.1564-16C>T
|
rs992126448
|
|
NM_005188.4(CBL):c.1564-20C>T
|
rs2135310240
|
|
NM_005188.4(CBL):c.1581T>C (p.Leu527=)
|
|
|
NM_005188.4(CBL):c.1596A>G (p.Pro532=)
|
|
|
NM_005188.4(CBL):c.1611C>T (p.Pro537=)
|
rs1258105653
|
|
NM_005188.4(CBL):c.1614A>G (p.Thr538=)
|
rs1408642074
|
|
NM_005188.4(CBL):c.1629A>G (p.Pro543=)
|
rs558577411
|
|
NM_005188.4(CBL):c.1676G>A (p.Arg559Gln)
|
rs143034856
|
|
NM_005188.4(CBL):c.1729A>G (p.Lys577Glu)
|
|
|
NM_005188.4(CBL):c.1737C>T (p.Pro579=)
|
|
|
NM_005188.4(CBL):c.1743C>T (p.Val581=)
|
rs570668705
|
|
NM_005188.4(CBL):c.1746C>T (p.Pro582=)
|
|
|
NM_005188.4(CBL):c.1749T>C (p.Ser583=)
|
|
|
NM_005188.4(CBL):c.174G>A (p.Lys58=)
|
|
|
NM_005188.4(CBL):c.1758T>C (p.Leu586=)
|
|
|
NM_005188.4(CBL):c.1773G>T (p.Leu591=)
|
rs148474386
|
|
NM_005188.4(CBL):c.1797A>G (p.Pro599=)
|
|
|
NM_005188.4(CBL):c.1850G>A (p.Arg617Gln)
|
rs780457588
|
|
NM_005188.4(CBL):c.1857A>T (p.Ser619=)
|
|
|
NM_005188.4(CBL):c.1862C>T (p.Pro621Leu)
|
rs1334315007
|
|
NM_005188.4(CBL):c.1870T>C (p.Leu624=)
|
rs981306664
|
|
NM_005188.4(CBL):c.1872G>T (p.Leu624Phe)
|
|
|
NM_005188.4(CBL):c.1875C>T (p.Pro625=)
|
|
|
NM_005188.4(CBL):c.1878A>G (p.Ser626=)
|
|
|
NM_005188.4(CBL):c.1905T>C (p.Pro635=)
|
|
|
NM_005188.4(CBL):c.1911C>G (p.Leu637=)
|
rs552760421
|
|
NM_005188.4(CBL):c.1914A>G (p.Gly638=)
|
rs2135310998
|
|
NM_005188.4(CBL):c.1925G>A (p.Ser642Asn)
|
rs571045498
|
|
NM_005188.4(CBL):c.1935C>T (p.Thr645=)
|
|
|
NM_005188.4(CBL):c.1941+10A>C
|
rs1238672363
|
|
NM_005188.4(CBL):c.1941+23_1941+26del
|
rs1949978831
|
|
NM_005188.4(CBL):c.1942-14T>G
|
rs2135312850
|
|
NM_005188.4(CBL):c.1942-16T>C
|
|
|
NM_005188.4(CBL):c.1942-18C>T
|
|
|
NM_005188.4(CBL):c.1942-19A>G
|
|
|
NM_005188.4(CBL):c.1942-20C>T
|
|
|
NM_005188.4(CBL):c.1942-7T>C
|
|
|
NM_005188.4(CBL):c.195+12G>C
|
rs1040283004
|
|
NM_005188.4(CBL):c.195+12_195+13delinsTT
|
rs1949271281
|
|
NM_005188.4(CBL):c.195+17G>A
|
|
|
NM_005188.4(CBL):c.195+17del
|
|
|
NM_005188.4(CBL):c.195+18C>T
|
rs2135244298
|
|
NM_005188.4(CBL):c.195+19G>T
|
|
|
NM_005188.4(CBL):c.1956C>T (p.Ser652=)
|
|
|
NM_005188.4(CBL):c.196-12C>G
|
rs2135266089
|
|
NM_005188.4(CBL):c.196-19T>C
|
rs2135266082
|
|
NM_005188.4(CBL):c.196-4G>A
|
|
|
NM_005188.4(CBL):c.196-6T>A
|
|
|
NM_005188.4(CBL):c.196-6T>C
|
|
|
NM_005188.4(CBL):c.1965A>G (p.Val655=)
|
|
|
NM_005188.4(CBL):c.1980C>T (p.Asp660=)
|
|
|
NM_005188.4(CBL):c.2004A>G (p.Ser668=)
|
|
|
NM_005188.4(CBL):c.201G>A (p.Val67=)
|
rs1195793980
|
|
NM_005188.4(CBL):c.2025T>C (p.Ser675=)
|
rs2135312966
|
|
NM_005188.4(CBL):c.2031T>C (p.Ala677=)
|
|
|
NM_005188.4(CBL):c.2036+10C>G
|
|
|
NM_005188.4(CBL):c.2036+14A>C
|
|
|
NM_005188.4(CBL):c.2036+17T>C
|
|
|
NM_005188.4(CBL):c.2037-16A>C
|
|
|
NM_005188.4(CBL):c.2037-17T>G
|
rs2135319753
|
|
NM_005188.4(CBL):c.2037-4C>T
|
|
|
NM_005188.4(CBL):c.2049G>A (p.Val683=)
|
rs1950067375
|
|
NM_005188.4(CBL):c.204G>T (p.Arg68=)
|
rs1193552867
|
|
NM_005188.4(CBL):c.2052A>C (p.Pro684=)
|
rs886047771
|
|
NM_005188.4(CBL):c.2106T>C (p.Thr702=)
|
|
|
NM_005188.4(CBL):c.2118G>A (p.Arg706=)
|
rs1950068296
|
|
NM_005188.4(CBL):c.2120C>T (p.Pro707Leu)
|
|
|
NM_005188.4(CBL):c.2122C>T (p.Leu708=)
|
|
|
NM_005188.4(CBL):c.2124A>G (p.Leu708=)
|
|
|
NM_005188.4(CBL):c.2153+12A>G
|
|
|
NM_005188.4(CBL):c.2153+14A>C
|
|
|
NM_005188.4(CBL):c.2153+18C>G
|
|
|
NM_005188.4(CBL):c.2154-12C>G
|
|
|
NM_005188.4(CBL):c.2154-13C>A
|
rs748969942
|
|
NM_005188.4(CBL):c.2154-13C>G
|
|
|
NM_005188.4(CBL):c.2154-14T>C
|
rs1950071352
|
|
NM_005188.4(CBL):c.2154-14dup
|
|
|
NM_005188.4(CBL):c.2154-7G>C
|
rs2135320148
|
|
NM_005188.4(CBL):c.2157A>G (p.Ala719=)
|
|
|
NM_005188.4(CBL):c.2166C>T (p.Cys722=)
|
|
|
NM_005188.4(CBL):c.2172G>A (p.Gln724=)
|
|
|
NM_005188.4(CBL):c.2190G>A (p.Thr730=)
|
rs143840974
|
|
NM_005188.4(CBL):c.2251+13T>G
|
|
|
NM_005188.4(CBL):c.2251+14del
|
|
|
NM_005188.4(CBL):c.2251+16G>A
|
|
|
NM_005188.4(CBL):c.2251+19A>G
|
rs1398869837
|
|
NM_005188.4(CBL):c.2251+8G>T
|
|
|
NM_005188.4(CBL):c.2251+9C>A
|
rs1439660465
|
|
NM_005188.4(CBL):c.2252-12A>G
|
|
|
NM_005188.4(CBL):c.2252-12A>T
|
|
|
NM_005188.4(CBL):c.2252-13C>T
|
|
|
NM_005188.4(CBL):c.2252-15C>T
|
|
|
NM_005188.4(CBL):c.2252-17C>G
|
|
|
NM_005188.4(CBL):c.2252-18_2252-16del
|
|
|
NM_005188.4(CBL):c.2252-19A>G
|
|
|
NM_005188.4(CBL):c.2252-19A>T
|
|
|
NM_005188.4(CBL):c.2253T>G (p.Gly751=)
|
rs2135320931
|
|
NM_005188.4(CBL):c.2259G>A (p.Gly753=)
|
rs1591270443
|
|
NM_005188.4(CBL):c.2259G>C (p.Gly753=)
|
rs1591270443
|
|
NM_005188.4(CBL):c.2263T>C (p.Leu755=)
|
rs2135320946
|
|
NM_005188.4(CBL):c.2283C>T (p.Asn761=)
|
|
|
NM_005188.4(CBL):c.228G>A (p.Ala76=)
|
rs2135266151
|
|
NM_005188.4(CBL):c.2307T>C (p.Asn769=)
|
|
|
NM_005188.4(CBL):c.2310G>A (p.Glu770=)
|
|
|
NM_005188.4(CBL):c.231A>G (p.Leu77=)
|
rs2135266156
|
|
NM_005188.4(CBL):c.2337A>G (p.Pro779=)
|
rs1042340033
|
|
NM_005188.4(CBL):c.2370C>T (p.Leu790=)
|
|
|
NM_005188.4(CBL):c.2381C>T (p.Ser794Phe)
|
rs201620100
|
|
NM_005188.4(CBL):c.2388C>T (p.Ala796=)
|
|
|
NM_005188.4(CBL):c.2394C>T (p.Ser798=)
|
rs773256658
|
|
NM_005188.4(CBL):c.2434+12G>A
|
|
|
NM_005188.4(CBL):c.2434+13A>G
|
rs2135321355
|
|
NM_005188.4(CBL):c.2434+18T>C
|
|
|
NM_005188.4(CBL):c.2434+19T>C
|
rs1040579282
|
|
NM_005188.4(CBL):c.2435-11A>G
|
|
|
NM_005188.4(CBL):c.2435-13C>A
|
|
|
NM_005188.4(CBL):c.2435-13C>T
|
|
|
NM_005188.4(CBL):c.2435-14C>G
|
rs2135321973
|
|
NM_005188.4(CBL):c.2435-14C>T
|
|
|
NM_005188.4(CBL):c.2435-18C>T
|
rs2135321969
|
|
NM_005188.4(CBL):c.2435-7C>A
|
|
|
NM_005188.4(CBL):c.2435-8del
|
|
|
NM_005188.4(CBL):c.2435-9T>C
|
|
|
NM_005188.4(CBL):c.2442T>C (p.Thr814=)
|
rs2135321991
|
|
NM_005188.4(CBL):c.2516G>C (p.Ser839Thr)
|
rs199771745
|
|
NM_005188.4(CBL):c.2517C>T (p.Ser839=)
|
rs2135322103
|
|
NM_005188.4(CBL):c.253T>C (p.Leu85=)
|
rs2135266192
|
|
NM_005188.4(CBL):c.2559C>T (p.Ala853=)
|
|
|
NM_005188.4(CBL):c.2571C>T (p.Leu857=)
|
|
|
NM_005188.4(CBL):c.2580G>A (p.Glu860=)
|
rs751908445
|
|
NM_005188.4(CBL):c.258C>T (p.Asp86=)
|
|
|
NM_005188.4(CBL):c.2604G>A (p.Gly868=)
|
rs200774234
|
|
NM_005188.4(CBL):c.2607C>T (p.Tyr869=)
|
|
|
NM_005188.4(CBL):c.2622C>T (p.Ile874=)
|
|
|
NM_005188.4(CBL):c.2670C>T (p.Asn890=)
|
|
|
NM_005188.4(CBL):c.2715T>C (p.Ala905=)
|
rs2135322388
|
|
NM_005188.4(CBL):c.30G>A (p.Gly10=)
|
rs2135243950
|
|
NM_005188.4(CBL):c.321G>A (p.Glu107=)
|
|
|
NM_005188.4(CBL):c.324A>G (p.Thr108=)
|
|
|
NM_005188.4(CBL):c.345T>C (p.Phe115=)
|
rs1342206980
|
|
NM_005188.4(CBL):c.354T>C (p.Phe118=)
|
|
|
NM_005188.4(CBL):c.381G>A (p.Lys127=)
|
rs1949512395
|
|
NM_005188.4(CBL):c.399C>T (p.Phe133=)
|
rs2135266372
|
|
NM_005188.4(CBL):c.39C>T (p.Gly13=)
|
|
|
NM_005188.4(CBL):c.432T>C (p.Asn144=)
|
|
|
NM_005188.4(CBL):c.443+13del
|
|
|
NM_005188.4(CBL):c.443+16T>C
|
|
|
NM_005188.4(CBL):c.443+9G>A
|
|
|
NM_005188.4(CBL):c.444-17A>C
|
|
|
NM_005188.4(CBL):c.444-18C>A
|
|
|
NM_005188.4(CBL):c.444-18C>T
|
rs879040078
|
|
NM_005188.4(CBL):c.444-20T>C
|
rs1238042752
|
|
NM_005188.4(CBL):c.444-4G>T
|
rs1331093488
|
|
NM_005188.4(CBL):c.444-9dup
|
rs1949850430
|
|
NM_005188.4(CBL):c.451C>T (p.Leu151=)
|
|
|
NM_005188.4(CBL):c.519C>T (p.Leu173=)
|
rs1949851368
|
|
NM_005188.4(CBL):c.51C>T (p.Ser17=)
|
|
|
NM_005188.4(CBL):c.525G>A (p.Gln175=)
|
|
|
NM_005188.4(CBL):c.531C>T (p.Asp177=)
|
|
|
NM_005188.4(CBL):c.534A>G (p.Thr178=)
|
rs1346848498
|
|
NM_005188.4(CBL):c.546T>G (p.Thr182=)
|
|
|
NM_005188.4(CBL):c.549A>G (p.Lys183=)
|
|
|
NM_005188.4(CBL):c.54G>T (p.Gly18=)
|
|
|
NM_005188.4(CBL):c.561G>A (p.Ala187=)
|
|
|
NM_005188.4(CBL):c.582T>C (p.Phe194=)
|
rs1565870454
|
|
NM_005188.4(CBL):c.590+12A>G
|
|
|
NM_005188.4(CBL):c.590+16A>C
|
rs2135297202
|
|
NM_005188.4(CBL):c.591-14C>T
|
|
|
NM_005188.4(CBL):c.591-17C>T
|
|
|
NM_005188.4(CBL):c.591-20C>T
|
|
|
NM_005188.4(CBL):c.591-8C>G
|
rs749291716
|
|
NM_005188.4(CBL):c.591-8C>T
|
rs749291716
|
|
NM_005188.4(CBL):c.591-9C>A
|
|
|
NM_005188.4(CBL):c.591-9C>G
|
rs747041808
|
|
NM_005188.4(CBL):c.594A>T (p.Thr198=)
|
|
|
NM_005188.4(CBL):c.60G>C (p.Ser20=)
|
rs758583427
|
|
NM_005188.4(CBL):c.618A>G (p.Arg206=)
|
rs2135298754
|
|
NM_005188.4(CBL):c.627A>G (p.Leu209=)
|
rs1057524651
|
|
NM_005188.4(CBL):c.66G>A (p.Ser22=)
|
rs1555225100
|
|
NM_005188.4(CBL):c.672G>A (p.Leu224=)
|
rs2135298929
|
|
NM_005188.4(CBL):c.688C>T (p.Leu230=)
|
|
|
NM_005188.4(CBL):c.693C>A (p.Thr231=)
|
|
|
NM_005188.4(CBL):c.6C>T (p.Ala2=)
|
|
|
NM_005188.4(CBL):c.702T>C (p.Asp234=)
|
rs2135299020
|
|
NM_005188.4(CBL):c.711G>C (p.Ser237=)
|
|
|
NM_005188.4(CBL):c.71G>C (p.Gly24Ala)
|
|
|
NM_005188.4(CBL):c.726C>T (p.Asp242=)
|
rs886152926
|
|
NM_005188.4(CBL):c.729C>T (p.Ile243=)
|
|
|
NM_005188.4(CBL):c.735C>T (p.Thr245=)
|
|
|
NM_005188.4(CBL):c.747+10_747+11insTTAT
|
rs1473693007
|
|
NM_005188.4(CBL):c.747+19_747+20insA
|
rs1949869142
|
|
NM_005188.4(CBL):c.747+8A>T
|
|
|
NM_005188.4(CBL):c.748-11del
|
|
|
NM_005188.4(CBL):c.748-12T>A
|
rs1949876096
|
|
NM_005188.4(CBL):c.748-13C>A
|
|
|
NM_005188.4(CBL):c.748-16G>C
|
rs200533967
|
|
NM_005188.4(CBL):c.748-18T>C
|
|
|
NM_005188.4(CBL):c.748-19A>C
|
|
|
NM_005188.4(CBL):c.748-20G>A
|
|
|
NM_005188.4(CBL):c.748-6C>T
|
rs1398964671
|
|
NM_005188.4(CBL):c.768G>A (p.Arg256=)
|
rs1555229786
|
|
NM_005188.4(CBL):c.777C>T (p.Asn259=)
|
|
|
NM_005188.4(CBL):c.814T>C (p.Leu272=)
|
rs2135300581
|
|
NM_005188.4(CBL):c.831G>C (p.Val277=)
|
|
|
NM_005188.4(CBL):c.84C>T (p.Leu28=)
|
|
|
NM_005188.4(CBL):c.869+14C>T
|
|
|
NM_005188.4(CBL):c.869+18A>G
|
rs1432059209
|
|
NM_005188.4(CBL):c.870-13T>C
|
|
|
NM_005188.4(CBL):c.882G>A (p.Arg294=)
|
rs1949886854
|
|
NM_005188.4(CBL):c.891T>C (p.Cys297=)
|
rs1949886927
|
|
NM_005188.4(CBL):c.906G>A (p.Gln302=)
|
|
|
NM_005188.4(CBL):c.927T>C (p.Thr309=)
|
|
|
NM_005188.4(CBL):c.93C>T (p.Asp31=)
|
|
|
NM_005188.4(CBL):c.945C>G (p.Leu315=)
|
|
|
NM_005188.4(CBL):c.954C>T (p.Ile318=)
|
rs1592399698
|
|
NM_005188.4(CBL):c.966A>G (p.Lys322=)
|
rs2135301572
|
|
NM_005188.4(CBL):c.96C>T (p.Ala32=)
|
|
|
NM_005188.4(CBL):c.972C>T (p.Leu324=)
|
rs2135301576
|
|
NM_005188.4(CBL):c.981A>G (p.Ala327=)
|
rs2135301590
|
|
NM_005343.4(HRAS):c.102C>G (p.Pro34=)
|
rs149199691
|
|
NM_005343.4(HRAS):c.105T>C (p.Thr35=)
|
|
|
NM_005343.4(HRAS):c.111+10G>A
|
rs1401412098
|
|
NM_005343.4(HRAS):c.111+12G>A
|
|
|
NM_005343.4(HRAS):c.111+15G>C
|
|
|
NM_005343.4(HRAS):c.111+7C>T
|
rs374130868
|
|
NM_005343.4(HRAS):c.111+8T>C
|
rs2133994019
|
|
NM_005343.4(HRAS):c.112-12G>A
|
rs1851288777
|
|
NM_005343.4(HRAS):c.112-13T>C
|
rs766582484
|
|
NM_005343.4(HRAS):c.112-14C>G
|
|
|
NM_005343.4(HRAS):c.112-14C>T
|
rs753906417
|
|
NM_005343.4(HRAS):c.112-17G>T
|
|
|
NM_005343.4(HRAS):c.112-18A>T
|
|
|
NM_005343.4(HRAS):c.112-19G>C
|
rs755577443
|
|
NM_005343.4(HRAS):c.112-20dup
|
rs2133992078
|
|
NM_005343.4(HRAS):c.112-4G>A
|
rs1589792986
|
|
NM_005343.4(HRAS):c.112-6C>T
|
rs2133991944
|
|
NM_005343.4(HRAS):c.112-7C>T
|
rs756348934
|
|
NM_005343.4(HRAS):c.112-7_112-5del
|
rs1347169680
|
|
NM_005343.4(HRAS):c.123G>C (p.Arg41=)
|
rs762706292
|
|
NM_005343.4(HRAS):c.12T>C (p.Tyr4=)
|
rs2133995153
|
|
NM_005343.4(HRAS):c.135C>T (p.Val45=)
|
|
|
NM_005343.4(HRAS):c.138T>C (p.Ile46=)
|
rs1851286467
|
|
NM_005343.4(HRAS):c.144G>A (p.Gly48=)
|
rs1589792926
|
|
NM_005343.4(HRAS):c.147G>A (p.Glu49=)
|
rs2133991462
|
|
NM_005343.4(HRAS):c.150G>C (p.Thr50=)
|
|
|
NM_005343.4(HRAS):c.150G>T (p.Thr50=)
|
rs1057520421
|
|
NM_005343.4(HRAS):c.156G>A (p.Leu52=)
|
rs1060504681
|
|
NM_005343.4(HRAS):c.156G>T (p.Leu52=)
|
rs1060504681
|
|
NM_005343.4(HRAS):c.157T>C (p.Leu53=)
|
|
|
NM_005343.4(HRAS):c.159G>A (p.Leu53=)
|
rs1205035369
|
|
NM_005343.4(HRAS):c.162C>T (p.Asp54=)
|
rs1057520410
|
|
NM_005343.4(HRAS):c.165C>T (p.Ile55=)
|
rs1261188136
|
|
NM_005343.4(HRAS):c.166C>T (p.Leu56=)
|
rs2133991227
|
|
NM_005343.4(HRAS):c.16C>T (p.Leu6=)
|
rs763376142
|
|
NM_005343.4(HRAS):c.177C>G (p.Ala59=)
|
rs730880456
|
|
NM_005343.4(HRAS):c.183G>A (p.Gln61=)
|
|
|
NM_005343.4(HRAS):c.189G>A (p.Glu63=)
|
|
|
NM_005343.4(HRAS):c.192C>T (p.Tyr64=)
|
rs2133990881
|
|
NM_005343.4(HRAS):c.195C>T (p.Ser65=)
|
rs898057728
|
|
NM_005343.4(HRAS):c.21G>C (p.Val7=)
|
|
|
NM_005343.4(HRAS):c.222C>G (p.Thr74=)
|
rs372223975
|
|
NM_005343.4(HRAS):c.225G>C (p.Gly75=)
|
|
|
NM_005343.4(HRAS):c.234C>T (p.Phe78=)
|
rs1057522882
|
|
NM_005343.4(HRAS):c.237G>A (p.Leu79=)
|
rs767586105
|
|
NM_005343.4(HRAS):c.237G>T (p.Leu79=)
|
rs767586105
|
|
NM_005343.4(HRAS):c.243G>A (p.Val81=)
|
|
|
NM_005343.4(HRAS):c.249C>G (p.Ala83=)
|
rs111372582
|
|
NM_005343.4(HRAS):c.255C>T (p.Asn85=)
|
rs759463996
|
|
NM_005343.4(HRAS):c.261C>T (p.Thr87=)
|
rs1851272766
|
|
NM_005343.4(HRAS):c.273G>A (p.Glu91=)
|
rs1851272074
|
|
NM_005343.4(HRAS):c.279C>T (p.Ile93=)
|
rs2133989886
|
|
NM_005343.4(HRAS):c.284A>G (p.Gln95Arg)
|
rs2133989835
|
|
NM_005343.4(HRAS):c.290+10G>A
|
rs769212136
|
|
NM_005343.4(HRAS):c.290+10G>C
|
rs769212136
|
|
NM_005343.4(HRAS):c.290+11T>C
|
|
|
NM_005343.4(HRAS):c.290+15G>A
|
|
|
NM_005343.4(HRAS):c.290+15G>C
|
|
|
NM_005343.4(HRAS):c.290+16C>T
|
|
|
NM_005343.4(HRAS):c.290+19G>C
|
|
|
NM_005343.4(HRAS):c.290+19G>T
|
|
|
NM_005343.4(HRAS):c.290+7C>G
|
|
|
NM_005343.4(HRAS):c.290+7C>T
|
|
|
NM_005343.4(HRAS):c.290+9C>T
|
rs747854581
|
|
NM_005343.4(HRAS):c.291-10C>T
|
rs1397119284
|
|
NM_005343.4(HRAS):c.291-11C>T
|
|
|
NM_005343.4(HRAS):c.291-15C>A
|
rs1404106769
|
|
NM_005343.4(HRAS):c.291-15C>T
|
rs1404106769
|
|
NM_005343.4(HRAS):c.291-16G>C
|
rs779917193
|
|
NM_005343.4(HRAS):c.291-17C>G
|
rs753558541
|
|
NM_005343.4(HRAS):c.291-18T>C
|
rs758646567
|
|
NM_005343.4(HRAS):c.291-4_291-3del
|
rs1589791952
|
|
NM_005343.4(HRAS):c.291-5C>G
|
|
|
NM_005343.4(HRAS):c.291-6T>G
|
rs766909143
|
|
NM_005343.4(HRAS):c.291-9A>G
|
rs1564789180
|
|
NM_005343.4(HRAS):c.291G>A (p.Arg97=)
|
|
|
NM_005343.4(HRAS):c.297G>A (p.Gln99=)
|
rs199656012
|
|
NM_005343.4(HRAS):c.300C>T (p.Ile100=)
|
rs2133987967
|
|
NM_005343.4(HRAS):c.304C>A (p.Arg102=)
|
rs1057517913
|
|
NM_005343.4(HRAS):c.306G>A (p.Arg102=)
|
|
|
NM_005343.4(HRAS):c.312G>A (p.Lys104=)
|
rs1060504682
|
|
NM_005343.4(HRAS):c.315C>T (p.Asp105=)
|
rs1229925274
|
|
NM_005343.4(HRAS):c.330C>A (p.Pro110=)
|
|
|
NM_005343.4(HRAS):c.339G>A (p.Leu113=)
|
rs878854759
|
|
NM_005343.4(HRAS):c.342G>A (p.Val114=)
|
|
|
NM_005343.4(HRAS):c.342G>C (p.Val114=)
|
rs2133987502
|
|
NM_005343.4(HRAS):c.345G>A (p.Gly115=)
|
rs2133987449
|
|
NM_005343.4(HRAS):c.351G>A (p.Lys117=)
|
|
|
NM_005343.4(HRAS):c.366A>G (p.Ala122=)
|
rs755980627
|
|
NM_005343.4(HRAS):c.375G>A (p.Val125=)
|
rs1851243465
|
|
NM_005343.4(HRAS):c.375G>C (p.Val125=)
|
rs1851243465
|
|
NM_005343.4(HRAS):c.386A>G (p.Gln129Arg)
|
rs1851242529
|
|
NM_005343.4(HRAS):c.390T>G (p.Ala130=)
|
rs2133986915
|
|
NM_005343.4(HRAS):c.393G>A (p.Gln131=)
|
rs2133986872
|
|
NM_005343.4(HRAS):c.396C>T (p.Asp132=)
|
rs975107534
|
|
NM_005343.4(HRAS):c.399C>T (p.Leu133=)
|
rs761180869
|
|
NM_005343.4(HRAS):c.402C>G (p.Ala134=)
|
rs773270401
|
|
NM_005343.4(HRAS):c.402C>T (p.Ala134=)
|
|
|
NM_005343.4(HRAS):c.408C>T (p.Ser136=)
|
rs2133986691
|
|
NM_005343.4(HRAS):c.414C>A (p.Gly138=)
|
rs2133986610
|
|
NM_005343.4(HRAS):c.417C>T (p.Ile139=)
|
rs2133986571
|
|
NM_005343.4(HRAS):c.418C>T (p.Pro140Ser)
|
rs144001095
|
|
NM_005343.4(HRAS):c.420C>T (p.Pro140=)
|
rs2133986528
|
|
NM_005343.4(HRAS):c.423C>T (p.Tyr141=)
|
rs1589791513
|
|
NM_005343.4(HRAS):c.429G>A (p.Glu143=)
|
|
|
NM_005343.4(HRAS):c.435G>C (p.Ser145=)
|
rs747008553
|
|
NM_005343.4(HRAS):c.438C>A (p.Ala146=)
|
rs1851236604
|
|
NM_005343.4(HRAS):c.438C>T (p.Ala146=)
|
|
|
NM_005343.4(HRAS):c.447G>A (p.Arg149=)
|
rs2133986135
|
|
NM_005343.4(HRAS):c.450+13T>C
|
rs752168787
|
|
NM_005343.4(HRAS):c.450+14C>T
|
|
|
NM_005343.4(HRAS):c.450+18C>A
|
|
|
NM_005343.4(HRAS):c.450+19C>T
|
|
|
NM_005343.4(HRAS):c.450+20C>A
|
rs201524241
|
|
NM_005343.4(HRAS):c.450+20C>G
|
rs201524241
|
|
NM_005343.4(HRAS):c.450+20C>T
|
|
|
NM_005343.4(HRAS):c.450+7C>T
|
|
|
NM_005343.4(HRAS):c.450+9G>A
|
|
|
NM_005343.4(HRAS):c.451-10C>T
|
rs1589789759
|
|
NM_005343.4(HRAS):c.451-12C>T
|
rs1204923566
|
|
NM_005343.4(HRAS):c.451-13C>A
|
rs761468352
|
|
NM_005343.4(HRAS):c.451-14C>A
|
|
|
NM_005343.4(HRAS):c.451-15T>C
|
rs1644141623
|
|
NM_005343.4(HRAS):c.451-16A>G
|
|
|
NM_005343.4(HRAS):c.451-17C>T
|
rs754150592
|
|
NM_005343.4(HRAS):c.451-19C>T
|
|
|
NM_005343.4(HRAS):c.451-20T>G
|
|
|
NM_005343.4(HRAS):c.451-22_451-8dup
|
rs1159599721
|
|
NM_005343.4(HRAS):c.451-4C>G
|
|
|
NM_005343.4(HRAS):c.451-4C>T
|
rs1589789708
|
|
NM_005343.4(HRAS):c.451-5C>G
|
rs370181298
|
|
NM_005343.4(HRAS):c.451-5C>T
|
rs370181298
|
|
NM_005343.4(HRAS):c.451-6T>C
|
rs1480423930
|
|
NM_005343.4(HRAS):c.451-9C>T
|
rs763872424
|
|
NM_005343.4(HRAS):c.459G>A (p.Glu153=)
|
rs2133982634
|
|
NM_005343.4(HRAS):c.45C>G (p.Gly15=)
|
|
|
NM_005343.4(HRAS):c.460G>T (p.Asp154Tyr)
|
|
|
NM_005343.4(HRAS):c.474G>C (p.Thr158=)
|
|
|
NM_005343.4(HRAS):c.480G>C (p.Val160=)
|
rs2133982437
|
|
NM_005343.4(HRAS):c.483T>C (p.Arg161=)
|
rs2133982410
|
|
NM_005343.4(HRAS):c.489C>A (p.Ile163=)
|
rs2133982379
|
|
NM_005343.4(HRAS):c.495G>A (p.Gln165=)
|
rs2133982327
|
|
NM_005343.4(HRAS):c.518C>G (p.Pro173Arg)
|
|
|
NM_005343.4(HRAS):c.522T>C (p.Pro174=)
|
|
|
NM_005343.4(HRAS):c.531T>C (p.Ser177=)
|
|
|
NM_005343.4(HRAS):c.534C>T (p.Gly178=)
|
|
|
NM_005343.4(HRAS):c.535C>G (p.Pro179Ala)
|
rs1201430199
|
|
NM_005343.4(HRAS):c.540C>A (p.Gly180=)
|
|
|
NM_005343.4(HRAS):c.540C>T (p.Gly180=)
|
rs976055009
|
|
NM_005343.4(HRAS):c.548G>A (p.Ser183Asn)
|
|
|
NM_005343.4(HRAS):c.54G>C (p.Ala18=)
|
rs148380285
|
|
NM_005343.4(HRAS):c.555G>A (p.Lys185=)
|
rs1230514063
|
|
NM_005343.4(HRAS):c.55C>T (p.Leu19=)
|
rs2133994674
|
|
NM_005343.4(HRAS):c.564C>G (p.Leu188=)
|
rs2133981970
|
|
NM_005343.4(HRAS):c.567C>G (p.Ser189=)
|
rs1324657141
|
|
NM_005343.4(HRAS):c.567C>T (p.Ser189=)
|
|
|
NM_005343.4(HRAS):c.60C>T (p.Thr20=)
|
rs774042283
|
|
NM_005343.4(HRAS):c.67C>T (p.Leu23=)
|
|
|
NM_005343.4(HRAS):c.69G>A (p.Leu23=)
|
rs1589793671
|
|
NM_005343.4(HRAS):c.96C>T (p.Tyr32=)
|
rs369039481
|
|
NM_005343.4(HRAS):c.99C>T (p.Asp33=)
|
rs756934316
|
|
NM_005633.3(SOS1):c.2511-9dup
|
rs727503436
|
|
NM_005633.4(SOS1):c.*1333_*1336dup
|
rs35969619
|
|
NM_005633.4(SOS1):c.*1606del
|
rs34248802
|
|
NM_005633.4(SOS1):c.*2138G>T
|
rs184227916
|
|
NM_005633.4(SOS1):c.*2244_*2245dup
|
rs3832123
|
|
NM_005633.4(SOS1):c.*2439del
|
rs377250198
|
|
NM_005633.4(SOS1):c.*2574A>G
|
rs539933930
|
|
NM_005633.4(SOS1):c.*399_*400insCA
|
rs144104838
|
|
NM_005633.4(SOS1):c.1005T>G (p.Val335=)
|
|
|
NM_005633.4(SOS1):c.1032G>T (p.Leu344=)
|
|
|
NM_005633.4(SOS1):c.1035C>G (p.Ala345=)
|
rs557313301
|
|
NM_005633.4(SOS1):c.1035C>T (p.Ala345=)
|
|
|
NM_005633.4(SOS1):c.1069T>C (p.Leu357=)
|
rs1489141486
|
|
NM_005633.4(SOS1):c.1074+14_1074+15del
|
rs778745914
|
|
NM_005633.4(SOS1):c.1074+15T>A
|
rs756552655
|
|
NM_005633.4(SOS1):c.1074+15T>C
|
|
|
NM_005633.4(SOS1):c.1074+16_1074+18del
|
rs1481294009
|
|
NM_005633.4(SOS1):c.1074+18del
|
|
|
NM_005633.4(SOS1):c.1074+20T>A
|
rs2124562356
|
|
NM_005633.4(SOS1):c.1074+20T>C
|
rs2124562356
|
|
NM_005633.4(SOS1):c.1075-15A>T
|
|
|
NM_005633.4(SOS1):c.1107C>T (p.Asp369=)
|
|
|
NM_005633.4(SOS1):c.1134A>G (p.Thr378=)
|
rs1572831555
|
|
NM_005633.4(SOS1):c.1143T>G (p.Leu381=)
|
rs1341270100
|
|
NM_005633.4(SOS1):c.114C>G (p.Leu38=)
|
rs1039971130
|
|
NM_005633.4(SOS1):c.114C>T (p.Leu38=)
|
|
|
NM_005633.4(SOS1):c.1167A>G (p.Lys389=)
|
|
|
NM_005633.4(SOS1):c.116A>T (p.Glu39Val)
|
|
|
NM_005633.4(SOS1):c.117G>A (p.Glu39=)
|
|
|
NM_005633.4(SOS1):c.1202+18T>C
|
|
|
NM_005633.4(SOS1):c.1202+8T>C
|
rs1047173581
|
|
NM_005633.4(SOS1):c.1203-6T>C
|
|
|
NM_005633.4(SOS1):c.1203-8T>C
|
rs1669853901
|
|
NM_005633.4(SOS1):c.1212A>G (p.Ala404=)
|
|
|
NM_005633.4(SOS1):c.1239G>A (p.Lys413=)
|
|
|
NM_005633.4(SOS1):c.1248A>G (p.Gln416=)
|
|
|
NM_005633.4(SOS1):c.1269C>G (p.Asn423Lys)
|
rs138459502
|
|
NM_005633.4(SOS1):c.1344A>C (p.Gly448=)
|
rs981794978
|
|
NM_005633.4(SOS1):c.1359A>G (p.Val453=)
|
rs765370998
|
|
NM_005633.4(SOS1):c.1374G>A (p.Glu458=)
|
|
|
NM_005633.4(SOS1):c.1389C>G (p.Leu463=)
|
|
|
NM_005633.4(SOS1):c.1431G>A (p.Gln477=)
|
|
|
NM_005633.4(SOS1):c.1509T>C (p.Asp503=)
|
rs2124537148
|
|
NM_005633.4(SOS1):c.1518C>T (p.Asp506=)
|
|
|
NM_005633.4(SOS1):c.151T>C (p.Leu51=)
|
|
|
NM_005633.4(SOS1):c.1522A>G (p.Asn508Asp)
|
|
|
NM_005633.4(SOS1):c.1524T>C (p.Asn508=)
|
rs1669843726
|
|
NM_005633.4(SOS1):c.1551T>C (p.Ile517=)
|
|
|
NM_005633.4(SOS1):c.1584C>T (p.Ala528=)
|
rs1453755368
|
|
NM_005633.4(SOS1):c.1596A>G (p.Glu532=)
|
|
|
NM_005633.4(SOS1):c.1604A>C (p.Asn535Thr)
|
|
|
NM_005633.4(SOS1):c.1663G>A (p.Asp555Asn)
|
|
|
NM_005633.4(SOS1):c.1677A>G (p.Leu559=)
|
rs768000455
|
|
NM_005633.4(SOS1):c.1704G>A (p.Arg568=)
|
|
|
NM_005633.4(SOS1):c.1707G>A (p.Leu569=)
|
rs1479407572
|
|
NM_005633.4(SOS1):c.171T>C (p.Asn57=)
|
rs1671637041
|
|
NM_005633.4(SOS1):c.1728A>G (p.Arg576=)
|
|
|
NM_005633.4(SOS1):c.1737G>A (p.Glu579=)
|
rs2124536474
|
|
NM_005633.4(SOS1):c.1758T>A (p.Ile586=)
|
rs2124536432
|
|
NM_005633.4(SOS1):c.1770G>C (p.Glu590Asp)
|
rs553331572
|
|
NM_005633.4(SOS1):c.177A>G (p.Leu59=)
|
|
|
NM_005633.4(SOS1):c.1798A>G (p.Ile600Val)
|
|
|
NM_005633.4(SOS1):c.1812A>G (p.Gly604=)
|
rs2124536280
|
|
NM_005633.4(SOS1):c.1815T>C (p.Thr605=)
|
|
|
NM_005633.4(SOS1):c.1842G>C (p.Thr614=)
|
rs143750479
|
|
NM_005633.4(SOS1):c.1857A>G (p.Ala619=)
|
rs774072889
|
|
NM_005633.4(SOS1):c.1858+10A>T
|
|
|
NM_005633.4(SOS1):c.1858+11T>C
|
rs377678694
|
|
NM_005633.4(SOS1):c.1858+19C>T
|
|
|
NM_005633.4(SOS1):c.1859-16T>C
|
rs2124520309
|
|
NM_005633.4(SOS1):c.1859-20T>C
|
rs2124520321
|
|
NM_005633.4(SOS1):c.1859-5_1859-3del
|
rs1171459346
|
|
NM_005633.4(SOS1):c.1859-8C>A
|
|
|
NM_005633.4(SOS1):c.188A>T (p.Gln63Leu)
|
|
|
NM_005633.4(SOS1):c.1902T>C (p.Phe634=)
|
|
|
NM_005633.4(SOS1):c.1914A>G (p.Gln638=)
|
|
|
NM_005633.4(SOS1):c.192C>G (p.Pro64=)
|
|
|
NM_005633.4(SOS1):c.1940+13A>G
|
|
|
NM_005633.4(SOS1):c.1941-15T>C
|
|
|
NM_005633.4(SOS1):c.1941-18T>A
|
|
|
NM_005633.4(SOS1):c.1987A>C (p.Ile663Leu)
|
rs730881024
|
|
NM_005633.4(SOS1):c.1989A>C (p.Ile663=)
|
rs587781172
|
|
NM_005633.4(SOS1):c.1989A>G (p.Ile663Met)
|
|
|
NM_005633.4(SOS1):c.1990G>C (p.Glu664Gln)
|
|
|
NM_005633.4(SOS1):c.2063+44T>C
|
rs111576630
|
|
NM_005633.4(SOS1):c.2064-16T>C
|
rs1456480607
|
|
NM_005633.4(SOS1):c.2064-20A>T
|
rs756707478
|
|
NM_005633.4(SOS1):c.2082G>A (p.Arg694=)
|
|
|
NM_005633.4(SOS1):c.2085C>T (p.His695=)
|
|
|
NM_005633.4(SOS1):c.2097C>T (p.His699=)
|
|
|
NM_005633.4(SOS1):c.20C>T (p.Pro7Leu)
|
|
|
NM_005633.4(SOS1):c.2124A>G (p.Ala708=)
|
|
|
NM_005633.4(SOS1):c.2127T>C (p.Tyr709=)
|
rs1340535048
|
|
NM_005633.4(SOS1):c.213+11T>A
|
|
|
NM_005633.4(SOS1):c.213+14_213+16del
|
rs768872084
|
|
NM_005633.4(SOS1):c.213+9A>C
|
|
|
NM_005633.4(SOS1):c.2131T>C (p.Leu711=)
|
|
|
NM_005633.4(SOS1):c.214-18A>G
|
|
|
NM_005633.4(SOS1):c.214-18del
|
|
|
NM_005633.4(SOS1):c.214-5C>T
|
|
|
NM_005633.4(SOS1):c.214-6T>C
|
|
|
NM_005633.4(SOS1):c.2163A>G (p.Val721=)
|
|
|
NM_005633.4(SOS1):c.2168-11A>C
|
|
|
NM_005633.4(SOS1):c.2168-13T>C
|
rs1351390742
|
|
NM_005633.4(SOS1):c.2168-9G>A
|
rs2124515247
|
|
NM_005633.4(SOS1):c.216A>G (p.Glu72=)
|
|
|
NM_005633.4(SOS1):c.2183A>C (p.Lys728Thr)
|
|
|
NM_005633.4(SOS1):c.21C>G (p.Pro7=)
|
rs727504845
|
|
NM_005633.4(SOS1):c.21C>T (p.Pro7=)
|
rs727504845
|
|
NM_005633.4(SOS1):c.225A>G (p.Gln75=)
|
rs560037748
|
|
NM_005633.4(SOS1):c.2280A>T (p.Thr760=)
|
|
|
NM_005633.4(SOS1):c.2316G>A (p.Glu772=)
|
|
|
NM_005633.4(SOS1):c.2316G>C (p.Glu772Asp)
|
rs1176763588
|
|
NM_005633.4(SOS1):c.2334C>T (p.Thr778=)
|
rs2124514909
|
|
NM_005633.4(SOS1):c.234C>T (p.Phe78=)
|
|
|
NM_005633.4(SOS1):c.2364C>T (p.Leu788=)
|
rs2124514840
|
|
NM_005633.4(SOS1):c.2390+18C>G
|
|
|
NM_005633.4(SOS1):c.2390+7A>C
|
|
|
NM_005633.4(SOS1):c.2391-19_2391-17del
|
|
|
NM_005633.4(SOS1):c.2391-8_2391-6del
|
rs1558468009
|
|
NM_005633.4(SOS1):c.2391-9T>C
|
rs1363931049
|
|
NM_005633.4(SOS1):c.2400G>A (p.Gln800=)
|
|
|
NM_005633.4(SOS1):c.2406A>G (p.Ser802=)
|
|
|
NM_005633.4(SOS1):c.2508G>A (p.Glu836=)
|
rs2124511405
|
|
NM_005633.4(SOS1):c.2510+10C>T
|
rs1669434907
|
|
NM_005633.4(SOS1):c.2510+16A>G
|
|
|
NM_005633.4(SOS1):c.2510+9dup
|
rs1669434974
|
|
NM_005633.4(SOS1):c.2511-13_2511-9del
|
rs727503436
|
|
NM_005633.4(SOS1):c.2511-9del
|
rs727503436
|
|
NM_005633.4(SOS1):c.2517T>C (p.Ile839=)
|
rs776366413
|
|
NM_005633.4(SOS1):c.2526T>G (p.Thr842=)
|
|
|
NM_005633.4(SOS1):c.2545G>A (p.Val849Ile)
|
|
|
NM_005633.4(SOS1):c.2607T>C (p.Asn869=)
|
|
|
NM_005633.4(SOS1):c.2610T>C (p.Gly870=)
|
|
|
NM_005633.4(SOS1):c.2640A>G (p.Ser880=)
|
|
|
NM_005633.4(SOS1):c.2643A>T (p.Ser881=)
|
|
|
NM_005633.4(SOS1):c.2673+13A>G
|
|
|
NM_005633.4(SOS1):c.2673+13_2673+14del
|
|
|
NM_005633.4(SOS1):c.2673+17G>A
|
|
|
NM_005633.4(SOS1):c.2673+20_2673+27del
|
|
|
NM_005633.4(SOS1):c.2673+9C>A
|
rs2124503175
|
|
NM_005633.4(SOS1):c.2674-16T>A
|
|
|
NM_005633.4(SOS1):c.2674-17A>G
|
rs774128271
|
|
NM_005633.4(SOS1):c.2674-17A>T
|
|
|
NM_005633.4(SOS1):c.2674-8C>T
|
|
|
NM_005633.4(SOS1):c.2674-9del
|
rs532594344
|
|
NM_005633.4(SOS1):c.2674-9dup
|
rs532594344
|
|
NM_005633.4(SOS1):c.2719T>C (p.Leu907=)
|
rs1442652313
|
|
NM_005633.4(SOS1):c.2730T>C (p.Asp910=)
|
|
|
NM_005633.4(SOS1):c.273A>G (p.Gln91=)
|
rs914110575
|
|
NM_005633.4(SOS1):c.2742A>G (p.Lys914=)
|
|
|
NM_005633.4(SOS1):c.2745T>C (p.Tyr915=)
|
rs542170980
|
|
NM_005633.4(SOS1):c.2746T>C (p.Leu916=)
|
rs1669285174
|
|
NM_005633.4(SOS1):c.2766T>C (p.Ile922=)
|
|
|
NM_005633.4(SOS1):c.2775A>T (p.Pro925=)
|
rs397517160
|
|
NM_005633.4(SOS1):c.2791+16T>C
|
|
|
NM_005633.4(SOS1):c.2791+7_2791+10del
|
rs760707217
|
|
NM_005633.4(SOS1):c.2792-17T>A
|
|
|
NM_005633.4(SOS1):c.2792-4C>G
|
|
|
NM_005633.4(SOS1):c.2799T>C (p.Tyr933=)
|
rs2124479716
|
|
NM_005633.4(SOS1):c.2820A>G (p.Thr940=)
|
|
|
NM_005633.4(SOS1):c.2853T>C (p.His951=)
|
|
|
NM_005633.4(SOS1):c.2861A>C (p.Glu954Ala)
|
|
|
NM_005633.4(SOS1):c.2868A>T (p.Ile956=)
|
rs758834690
|
|
NM_005633.4(SOS1):c.2922C>T (p.Tyr974=)
|
|
|
NM_005633.4(SOS1):c.2931G>A (p.Gln977=)
|
|
|
NM_005633.4(SOS1):c.2943A>G (p.Leu981=)
|
rs2124479499
|
|
NM_005633.4(SOS1):c.2944C>A (p.Arg982=)
|
rs1553351455
|
|
NM_005633.4(SOS1):c.2949A>G (p.Val983=)
|
|
|
NM_005633.4(SOS1):c.294G>A (p.Lys98=)
|
rs748478952
|
|
NM_005633.4(SOS1):c.2964+20G>A
|
|
|
NM_005633.4(SOS1):c.2964+7T>A
|
|
|
NM_005633.4(SOS1):c.2965-17C>A
|
rs1028117923
|
|
NM_005633.4(SOS1):c.2965-4T>G
|
|
|
NM_005633.4(SOS1):c.2965-7_2965-4del
|
|
|
NM_005633.4(SOS1):c.2967G>A (p.Arg989=)
|
|
|
NM_005633.4(SOS1):c.2973T>G (p.Phe991Leu)
|
|
|
NM_005633.4(SOS1):c.3008A>C (p.Lys1003Thr)
|
|
|
NM_005633.4(SOS1):c.3018A>C (p.Thr1006=)
|
|
|
NM_005633.4(SOS1):c.303C>T (p.Asn101=)
|
|
|
NM_005633.4(SOS1):c.3045A>G (p.Glu1015=)
|
|
|
NM_005633.4(SOS1):c.3055C>A (p.Arg1019=)
|
|
|
NM_005633.4(SOS1):c.3063T>G (p.Pro1021=)
|
|
|
NM_005633.4(SOS1):c.3076A>C (p.Arg1026=)
|
|
|
NM_005633.4(SOS1):c.3081+20_3081+23del
|
|
|
NM_005633.4(SOS1):c.3082-11T>C
|
|
|
NM_005633.4(SOS1):c.3082-12A>C
|
|
|
NM_005633.4(SOS1):c.3082-12A>G
|
|
|
NM_005633.4(SOS1):c.3100C>T (p.Pro1034Ser)
|
|
|
NM_005633.4(SOS1):c.3102C>A (p.Pro1034=)
|
rs1572804715
|
|
NM_005633.4(SOS1):c.3123T>A (p.Arg1041=)
|
rs1668859955
|
|
NM_005633.4(SOS1):c.3132C>T (p.Asn1044=)
|
rs544231079
|
|
NM_005633.4(SOS1):c.3168G>A (p.Leu1056=)
|
rs2124475636
|
|
NM_005633.4(SOS1):c.3174G>A (p.Gln1058=)
|
rs2124475622
|
|
NM_005633.4(SOS1):c.3183G>A (p.Arg1061=)
|
|
|
NM_005633.4(SOS1):c.3195T>C (p.Tyr1065=)
|
rs1280224224
|
|
NM_005633.4(SOS1):c.3207T>C (p.Pro1069=)
|
|
|
NM_005633.4(SOS1):c.3228A>T (p.Thr1076=)
|
|
|
NM_005633.4(SOS1):c.3258G>A (p.Pro1086=)
|
rs770550039
|
|
NM_005633.4(SOS1):c.3270G>A (p.Pro1090=)
|
|
|
NM_005633.4(SOS1):c.3271C>A (p.Pro1091Thr)
|
rs756008569
|
|
NM_005633.4(SOS1):c.3320C>G (p.Ser1107Cys)
|
|
|
NM_005633.4(SOS1):c.3321C>T (p.Ser1107=)
|
|
|
NM_005633.4(SOS1):c.3325C>T (p.His1109Tyr)
|
|
|
NM_005633.4(SOS1):c.3329C>G (p.Ser1110Trp)
|
rs572955351
|
|
NM_005633.4(SOS1):c.3330G>A (p.Ser1110=)
|
rs146383828
|
|
NM_005633.4(SOS1):c.3339T>C (p.Phe1113=)
|
|
|
NM_005633.4(SOS1):c.3346+19A>C
|
|
|
NM_005633.4(SOS1):c.3347-11_3347-10dup
|
|
|
NM_005633.4(SOS1):c.3347-19T>C
|
|
|
NM_005633.4(SOS1):c.3347-7T>C
|
|
|
NM_005633.4(SOS1):c.336T>C (p.Pro112=)
|
|
|
NM_005633.4(SOS1):c.3382C>T (p.His1128Tyr)
|
rs762576997
|
|
NM_005633.4(SOS1):c.3391+12T>C
|
|
|
NM_005633.4(SOS1):c.3391+14G>C
|
|
|
NM_005633.4(SOS1):c.3391+8T>C
|
|
|
NM_005633.4(SOS1):c.3392-12A>C
|
rs2124458913
|
|
NM_005633.4(SOS1):c.3392-15T>C
|
|
|
NM_005633.4(SOS1):c.3392-16A>T
|
|
|
NM_005633.4(SOS1):c.3392-4A>G
|
|
|
NM_005633.4(SOS1):c.3408A>G (p.Ser1136=)
|
|
|
NM_005633.4(SOS1):c.3441G>A (p.Val1147=)
|
|
|
NM_005633.4(SOS1):c.3447C>G (p.Val1149=)
|
|
|
NM_005633.4(SOS1):c.345+13_345+16dup
|
|
|
NM_005633.4(SOS1):c.345+7C>G
|
|
|
NM_005633.4(SOS1):c.345+7C>T
|
|
|
NM_005633.4(SOS1):c.345+7_345+9del
|
|
|
NM_005633.4(SOS1):c.346-10A>C
|
|
|
NM_005633.4(SOS1):c.346-10A>T
|
|
|
NM_005633.4(SOS1):c.346-11T>C
|
|
|
NM_005633.4(SOS1):c.346-15_346-11del
|
|
|
NM_005633.4(SOS1):c.3510+19T>C
|
|
|
NM_005633.4(SOS1):c.3510+20_3510+22del
|
rs1224323965
|
|
NM_005633.4(SOS1):c.3511-4T>C
|
rs2124455873
|
|
NM_005633.4(SOS1):c.351C>T (p.Val117=)
|
rs2124607504
|
|
NM_005633.4(SOS1):c.3588T>C (p.Tyr1196=)
|
|
|
NM_005633.4(SOS1):c.3600C>A (p.Asp1200Glu)
|
rs141594736
|
|
NM_005633.4(SOS1):c.3618C>T (p.Asp1206=)
|
|
|
NM_005633.4(SOS1):c.3636C>G (p.Pro1212=)
|
rs1462784520
|
|
NM_005633.4(SOS1):c.3648A>G (p.Pro1216=)
|
|
|
NM_005633.4(SOS1):c.3658G>A (p.Val1220Met)
|
rs776814547
|
|
NM_005633.4(SOS1):c.3671A>G (p.Asp1224Gly)
|
rs747415691
|
|
NM_005633.4(SOS1):c.3693A>G (p.Leu1231=)
|
rs772625418
|
|
NM_005633.4(SOS1):c.36C>T (p.Ser12=)
|
|
|
NM_005633.4(SOS1):c.3702A>G (p.Gln1234=)
|
|
|
NM_005633.4(SOS1):c.3709C>A (p.Pro1237Thr)
|
rs371408734
|
|
NM_005633.4(SOS1):c.3722A>G (p.Lys1241Arg)
|
|
|
NM_005633.4(SOS1):c.3724A>G (p.Ser1242Gly)
|
rs1293079271
|
|
NM_005633.4(SOS1):c.3765C>T (p.Pro1255=)
|
|
|
NM_005633.4(SOS1):c.3792T>C (p.Pro1264=)
|
rs2124454793
|
|
NM_005633.4(SOS1):c.3807A>T (p.Thr1269=)
|
|
|
NM_005633.4(SOS1):c.3810A>G (p.Arg1270=)
|
|
|
NM_005633.4(SOS1):c.3813G>A (p.Arg1271=)
|
rs863224405
|
|
NM_005633.4(SOS1):c.3831A>G (p.Pro1277=)
|
rs2124454599
|
|
NM_005633.4(SOS1):c.3837A>G (p.Thr1279=)
|
|
|
NM_005633.4(SOS1):c.3864T>A (p.Ala1288=)
|
|
|
NM_005633.4(SOS1):c.3873T>C (p.Pro1291=)
|
rs2124454339
|
|
NM_005633.4(SOS1):c.3888A>G (p.Gln1296=)
|
|
|
NM_005633.4(SOS1):c.3891C>T (p.Ser1297=)
|
|
|
NM_005633.4(SOS1):c.3915C>T (p.Leu1305=)
|
|
|
NM_005633.4(SOS1):c.3930C>T (p.Tyr1310=)
|
|
|
NM_005633.4(SOS1):c.3945A>C (p.Thr1315=)
|
|
|
NM_005633.4(SOS1):c.3948C>G (p.His1316Gln)
|
|
|
NM_005633.4(SOS1):c.3954C>T (p.Ser1318=)
|
rs778897046
|
|
NM_005633.4(SOS1):c.3956T>G (p.Met1319Arg)
|
rs730881036
|
|
NM_005633.4(SOS1):c.3972A>G (p.Pro1324=)
|
|
|
NM_005633.4(SOS1):c.3977T>G (p.Leu1326Arg)
|
|
|
NM_005633.4(SOS1):c.444T>C (p.Tyr148=)
|
|
|
NM_005633.4(SOS1):c.471T>C (p.Ile157=)
|
rs1671227649
|
|
NM_005633.4(SOS1):c.48G>A (p.Ala16=)
|
|
|
NM_005633.4(SOS1):c.511-10G>C
|
|
|
NM_005633.4(SOS1):c.511-12C>G
|
rs1423928193
|
|
NM_005633.4(SOS1):c.511-6G>T
|
|
|
NM_005633.4(SOS1):c.511-8C>A
|
|
|
NM_005633.4(SOS1):c.511-9_511-6del
|
rs986512473
|
|
NM_005633.4(SOS1):c.540A>G (p.Val180=)
|
rs1671148614
|
|
NM_005633.4(SOS1):c.558A>G (p.Leu186=)
|
|
|
NM_005633.4(SOS1):c.563T>C (p.Leu188Ser)
|
|
|
NM_005633.4(SOS1):c.576G>A (p.Glu192=)
|
|
|
NM_005633.4(SOS1):c.606T>C (p.Tyr202=)
|
|
|
NM_005633.4(SOS1):c.619G>A (p.Ala207Thr)
|
|
|
NM_005633.4(SOS1):c.661C>T (p.Leu221=)
|
|
|
NM_005633.4(SOS1):c.663A>G (p.Leu221=)
|
|
|
NM_005633.4(SOS1):c.706T>C (p.Leu236=)
|
rs1418372765
|
|
NM_005633.4(SOS1):c.720+16T>A
|
|
|
NM_005633.4(SOS1):c.721-6A>C
|
rs1671008797
|
|
NM_005633.4(SOS1):c.724G>C (p.Val242Leu)
|
|
|
NM_005633.4(SOS1):c.738T>C (p.Phe246=)
|
|
|
NM_005633.4(SOS1):c.750A>G (p.Val250=)
|
rs745536268
|
|
NM_005633.4(SOS1):c.75T>A (p.Pro25=)
|
rs1267148141
|
|
NM_005633.4(SOS1):c.771A>G (p.Val257=)
|
rs1671007109
|
|
NM_005633.4(SOS1):c.777A>G (p.Leu259=)
|
|
|
NM_005633.4(SOS1):c.822T>C (p.Ser274=)
|
rs1057522964
|
|
NM_005633.4(SOS1):c.825C>T (p.Pro275=)
|
|
|
NM_005633.4(SOS1):c.836T>C (p.Val279Ala)
|
|
|
NM_005633.4(SOS1):c.864+17T>A
|
|
|
NM_005633.4(SOS1):c.864+19T>C
|
|
|
NM_005633.4(SOS1):c.865-18_865-17insAA
|
|
|
NM_005633.4(SOS1):c.87+10A>G
|
|
|
NM_005633.4(SOS1):c.87+16G>C
|
|
|
NM_005633.4(SOS1):c.87+16G>T
|
|
|
NM_005633.4(SOS1):c.87+18C>T
|
rs189109845
|
|
NM_005633.4(SOS1):c.87+19C>G
|
|
|
NM_005633.4(SOS1):c.88-6T>G
|
rs2148140697
|
|
NM_005633.4(SOS1):c.888A>G (p.Glu296=)
|
|
|
NM_005633.4(SOS1):c.891G>A (p.Ser297=)
|
rs1572841459
|
|
NM_005633.4(SOS1):c.911G>A (p.Arg304Gln)
|
|
|
NM_005633.4(SOS1):c.945A>G (p.Leu315=)
|
|
|
NM_005633.4(SOS1):c.94G>C (p.Gly32Arg)
|
|
|
NM_005633.4(SOS1):c.972G>A (p.Leu324=)
|
|
|
NM_005633.4(SOS1):c.975+17A>G
|
|
|
NM_005633.4(SOS1):c.975+20A>G
|
|
|
NM_005633.4(SOS1):c.976-5dup
|
rs771586560
|
|
NM_005633.4(SOS1):c.987A>G (p.Glu329=)
|
|
|
NM_006270.5(RRAS):c.153+10C>A
|
|
|
NM_006270.5(RRAS):c.153+18G>A
|
|
|
NM_006270.5(RRAS):c.154-10A>T
|
|
|
NM_006270.5(RRAS):c.154-6C>T
|
|
|
NM_006270.5(RRAS):c.162C>T (p.Phe54=)
|
|
|
NM_006270.5(RRAS):c.231C>A (p.Ala77=)
|
rs557964716
|
|
NM_006270.5(RRAS):c.241+17T>C
|
|
|
NM_006270.5(RRAS):c.241+20A>G
|
|
|
NM_006270.5(RRAS):c.242-12_242-11del
|
|
|
NM_006270.5(RRAS):c.242-8C>G
|
|
|
NM_006270.5(RRAS):c.252C>T (p.Thr84=)
|
|
|
NM_006270.5(RRAS):c.270C>T (p.Phe90=)
|
|
|
NM_006270.5(RRAS):c.288G>A (p.Gln96=)
|
|
|
NM_006270.5(RRAS):c.306C>T (p.His102=)
|
|
|
NM_006270.5(RRAS):c.30G>C (p.Gly10=)
|
rs901769495
|
|
NM_006270.5(RRAS):c.345-19_345-18del
|
rs2122419483
|
|
NM_006270.5(RRAS):c.345-5C>T
|
|
|
NM_006270.5(RRAS):c.408C>G (p.Pro136=)
|
rs114187560
|
|
NM_006270.5(RRAS):c.42C>T (p.Pro14=)
|
rs1354856207
|
|
NM_006270.5(RRAS):c.438G>T (p.Leu146=)
|
rs1599813671
|
|
NM_006270.5(RRAS):c.43C>A (p.Arg15=)
|
rs544651800
|
|
NM_006270.5(RRAS):c.453+17T>C
|
|
|
NM_006270.5(RRAS):c.453+18T>C
|
rs2122418915
|
|
NM_006270.5(RRAS):c.453+7G>A
|
rs2122418958
|
|
NM_006270.5(RRAS):c.454-11C>G
|
|
|
NM_006270.5(RRAS):c.454-13C>T
|
|
|
NM_006270.5(RRAS):c.454-20C>T
|
|
|
NM_006270.5(RRAS):c.454-4C>T
|
|
|
NM_006270.5(RRAS):c.454-7C>T
|
rs2122417189
|
|
NM_006270.5(RRAS):c.454-9T>A
|
rs1490597941
|
|
NM_006270.5(RRAS):c.480C>T (p.Phe160=)
|
|
|
NM_006270.5(RRAS):c.492C>T (p.His164=)
|
rs2122416934
|
|
NM_006270.5(RRAS):c.516G>A (p.Ser172=)
|
rs199924228
|
|
NM_006270.5(RRAS):c.516G>T (p.Ser172=)
|
|
|
NM_006270.5(RRAS):c.567T>C (p.Ala189=)
|
|
|
NM_006270.5(RRAS):c.572+13C>A
|
|
|
NM_006270.5(RRAS):c.573-15G>A
|
|
|
NM_006270.5(RRAS):c.573-16del
|
|
|
NM_006270.5(RRAS):c.609C>T (p.Pro203=)
|
|
|
NM_006270.5(RRAS):c.630C>T (p.Gly210=)
|
|
|
NM_006270.5(RRAS):c.642C>T (p.Pro214=)
|
|
|
NM_006270.5(RRAS):c.66G>A (p.Gly22=)
|
rs1249345635
|
|
NM_006270.5(RRAS):c.75G>C (p.Pro25=)
|
rs2122429854
|
|
NM_006767.4(LZTR1):c.1620T>C (p.His540=)
|
rs141610191
|
|
NM_006767.4(LZTR1):c.2103C>T (p.Pro701=)
|
rs139080986
|
|
NM_006912.6(RIT1):c.107-12C>T
|
|
|
NM_006912.6(RIT1):c.107-13_107-10del
|
|
|
NM_006912.6(RIT1):c.107-6T>G
|
|
|
NM_006912.6(RIT1):c.107-9C>A
|
|
|
NM_006912.6(RIT1):c.108C>T (p.Ala36=)
|
|
|
NM_006912.6(RIT1):c.120G>A (p.Gln40=)
|
|
|
NM_006912.6(RIT1):c.131A>T (p.His44Leu)
|
|
|
NM_006912.6(RIT1):c.156C>T (p.Pro52=)
|
rs1571999270
|
|
NM_006912.6(RIT1):c.163+10A>G
|
|
|
NM_006912.6(RIT1):c.163+12C>T
|
|
|
NM_006912.6(RIT1):c.163+16A>C
|
|
|
NM_006912.6(RIT1):c.163+17C>G
|
|
|
NM_006912.6(RIT1):c.164-18C>G
|
|
|
NM_006912.6(RIT1):c.164-27_164-17dup
|
|
|
NM_006912.6(RIT1):c.164-5T>C
|
|
|
NM_006912.6(RIT1):c.18C>T (p.Arg6=)
|
|
|
NM_006912.6(RIT1):c.237+11C>A
|
|
|
NM_006912.6(RIT1):c.237+12del
|
rs763868802
|
|
NM_006912.6(RIT1):c.237+18G>A
|
|
|
NM_006912.6(RIT1):c.237+19T>A
|
|
|
NM_006912.6(RIT1):c.237+9T>C
|
|
|
NM_006912.6(RIT1):c.238-16C>T
|
rs763494925
|
|
NM_006912.6(RIT1):c.238-9T>A
|
|
|
NM_006912.6(RIT1):c.258G>A (p.Arg86=)
|
|
|
NM_006912.6(RIT1):c.261C>T (p.Asp87=)
|
|
|
NM_006912.6(RIT1):c.264G>A (p.Gln88=)
|
|
|
NM_006912.6(RIT1):c.273G>A (p.Arg91=)
|
|
|
NM_006912.6(RIT1):c.313C>T (p.Arg105Cys)
|
|
|
NM_006912.6(RIT1):c.316C>A (p.Arg106=)
|
|
|
NM_006912.6(RIT1):c.321T>C (p.Ser107=)
|
rs2102584781
|
|
NM_006912.6(RIT1):c.351T>C (p.Leu117=)
|
|
|
NM_006912.6(RIT1):c.366A>G (p.Arg122=)
|
|
|
NM_006912.6(RIT1):c.381A>C (p.Thr127=)
|
rs1206873288
|
|
NM_006912.6(RIT1):c.381A>G (p.Thr127=)
|
|
|
NM_006912.6(RIT1):c.384T>C (p.Pro128=)
|
|
|
NM_006912.6(RIT1):c.387G>A (p.Val129=)
|
|
|
NM_006912.6(RIT1):c.408A>G (p.Ser136=)
|
|
|
NM_006912.6(RIT1):c.421C>T (p.Leu141=)
|
|
|
NM_006912.6(RIT1):c.429+15G>A
|
|
|
NM_006912.6(RIT1):c.429+20T>C
|
rs2102584651
|
|
NM_006912.6(RIT1):c.429+9A>G
|
|
|
NM_006912.6(RIT1):c.430-16C>T
|
|
|
NM_006912.6(RIT1):c.430-18C>A
|
|
|
NM_006912.6(RIT1):c.430-18C>T
|
|
|
NM_006912.6(RIT1):c.430-5T>C
|
rs1571991209
|
|
NM_006912.6(RIT1):c.441A>G (p.Glu147=)
|
|
|
NM_006912.6(RIT1):c.45C>T (p.Pro15=)
|
|
|
NM_006912.6(RIT1):c.465A>G (p.Glu155=)
|
|
|
NM_006912.6(RIT1):c.489A>G (p.Thr163=)
|
|
|
NM_006912.6(RIT1):c.48T>C (p.Ala16=)
|
|
|
NM_006912.6(RIT1):c.492T>C (p.Ser164=)
|
rs2102581097
|
|
NM_006912.6(RIT1):c.507C>T (p.Tyr169=)
|
|
|
NM_006912.6(RIT1):c.519T>C (p.Asp173=)
|
|
|
NM_006912.6(RIT1):c.531C>A (p.Ala177=)
|
|
|
NM_006912.6(RIT1):c.552G>A (p.Arg184=)
|
rs1673290776
|
|
NM_006912.6(RIT1):c.570A>G (p.Val190=)
|
|
|
NM_006912.6(RIT1):c.609A>G (p.Val203=)
|
|
|
NM_006912.6(RIT1):c.639G>A (p.Lys213=)
|
rs1673288442
|
|
NM_006912.6(RIT1):c.651A>G (p.Ser217=)
|
|
|
NM_006912.6(RIT1):c.659G>A (p.Ter220=)
|
|
|
NM_006912.6(RIT1):c.72A>G (p.Leu24=)
|
rs770237120
|
|
NM_006912.6(RIT1):c.93T>C (p.Gly31=)
|
|
|
NM_006939.4(SOS2):c.1017T>A (p.Arg339=)
|
|
|
NM_006939.4(SOS2):c.1017T>C (p.Arg339=)
|
|
|
NM_006939.4(SOS2):c.1024C>T (p.Leu342=)
|
rs1033098930
|
|
NM_006939.4(SOS2):c.1029G>A (p.Val343=)
|
|
|
NM_006939.4(SOS2):c.1065A>G (p.Leu355=)
|
|
|
NM_006939.4(SOS2):c.1068+11A>G
|
|
|
NM_006939.4(SOS2):c.1068+15C>A
|
|
|
NM_006939.4(SOS2):c.1069-14_1069-13del
|
|
|
NM_006939.4(SOS2):c.1069-16_1069-13del
|
|
|
NM_006939.4(SOS2):c.1069-4T>C
|
|
|
NM_006939.4(SOS2):c.1080A>T (p.Ala360=)
|
|
|
NM_006939.4(SOS2):c.110C>T (p.Thr37Ile)
|
|
|
NM_006939.4(SOS2):c.1119A>G (p.Gln373=)
|
|
|
NM_006939.4(SOS2):c.1125T>C (p.Ile375=)
|
rs1885009611
|
|
NM_006939.4(SOS2):c.1158C>T (p.Asp386=)
|
rs942106224
|
|
NM_006939.4(SOS2):c.1170G>A (p.Lys390=)
|
|
|
NM_006939.4(SOS2):c.1173G>A (p.Gln391=)
|
|
|
NM_006939.4(SOS2):c.1176T>C (p.Tyr392=)
|
rs1555370242
|
|
NM_006939.4(SOS2):c.1196+7C>T
|
|
|
NM_006939.4(SOS2):c.1197-11_1197-8del
|
|
|
NM_006939.4(SOS2):c.1197-20A>G
|
|
|
NM_006939.4(SOS2):c.1197-8T>G
|
rs2139630303
|
|
NM_006939.4(SOS2):c.1205T>C (p.Val402Ala)
|
|
|
NM_006939.4(SOS2):c.1210C>G (p.Pro404Ala)
|
|
|
NM_006939.4(SOS2):c.1221T>C (p.Ser407=)
|
|
|
NM_006939.4(SOS2):c.1227A>G (p.Gln409=)
|
|
|
NM_006939.4(SOS2):c.1230A>G (p.Leu410=)
|
|
|
NM_006939.4(SOS2):c.1242C>T (p.His414=)
|
|
|
NM_006939.4(SOS2):c.1263T>C (p.Asn421=)
|
rs369267864
|
|
NM_006939.4(SOS2):c.129G>A (p.Glu43=)
|
|
|
NM_006939.4(SOS2):c.1323A>G (p.Glu441=)
|
|
|
NM_006939.4(SOS2):c.1339C>A (p.Pro447Thr)
|
|
|
NM_006939.4(SOS2):c.1341A>G (p.Pro447=)
|
rs761540894
|
|
NM_006939.4(SOS2):c.1345A>G (p.Thr449Ala)
|
|
|
NM_006939.4(SOS2):c.1353C>T (p.Ile451=)
|
|
|
NM_006939.4(SOS2):c.1362A>G (p.Lys454=)
|
|
|
NM_006939.4(SOS2):c.1371G>T (p.Arg457=)
|
|
|
NM_006939.4(SOS2):c.13C>G (p.Pro5Ala)
|
|
|
NM_006939.4(SOS2):c.141T>C (p.Tyr47=)
|
|
|
NM_006939.4(SOS2):c.1422C>T (p.Gly474=)
|
|
|
NM_006939.4(SOS2):c.1445G>A (p.Ser482Asn)
|
|
|
NM_006939.4(SOS2):c.1455A>G (p.Glu485=)
|
|
|
NM_006939.4(SOS2):c.1464A>G (p.Leu488=)
|
|
|
NM_006939.4(SOS2):c.1488A>G (p.Lys496=)
|
|
|
NM_006939.4(SOS2):c.1491A>T (p.Ile497=)
|
rs2139629111
|
|
NM_006939.4(SOS2):c.1499G>C (p.Cys500Ser)
|
|
|
NM_006939.4(SOS2):c.1508A>T (p.Glu503Val)
|
|
|
NM_006939.4(SOS2):c.1515T>C (p.Thr505=)
|
rs1345455743
|
|
NM_006939.4(SOS2):c.1540T>C (p.Leu514=)
|
|
|
NM_006939.4(SOS2):c.1564A>G (p.Ile522Val)
|
|
|
NM_006939.4(SOS2):c.1593A>G (p.Glu531=)
|
rs1414010933
|
|
NM_006939.4(SOS2):c.15G>A (p.Pro5=)
|
|
|
NM_006939.4(SOS2):c.1609G>T (p.Ala537Ser)
|
rs748632850
|
|
NM_006939.4(SOS2):c.1614C>A (p.Ala538=)
|
|
|
NM_006939.4(SOS2):c.1642C>T (p.Leu548=)
|
|
|
NM_006939.4(SOS2):c.1648C>A (p.Arg550=)
|
rs1344304906
|
|
NM_006939.4(SOS2):c.1662A>G (p.Ser554=)
|
|
|
NM_006939.4(SOS2):c.1766A>G (p.Asn589Ser)
|
|
|
NM_006939.4(SOS2):c.1767C>T (p.Asn589=)
|
rs1427742827
|
|
NM_006939.4(SOS2):c.1815G>T (p.Val605=)
|
rs966907268
|
|
NM_006939.4(SOS2):c.1852+11C>T
|
|
|
NM_006939.4(SOS2):c.1852+15T>C
|
|
|
NM_006939.4(SOS2):c.1884A>C (p.Thr628=)
|
rs781172817
|
|
NM_006939.4(SOS2):c.1884A>G (p.Thr628=)
|
|
|
NM_006939.4(SOS2):c.1932A>G (p.Glu644=)
|
|
|
NM_006939.4(SOS2):c.1934+11T>G
|
rs375487320
|
|
NM_006939.4(SOS2):c.1934+19del
|
|
|
NM_006939.4(SOS2):c.1935-19C>A
|
|
|
NM_006939.4(SOS2):c.1935-6T>C
|
|
|
NM_006939.4(SOS2):c.1961C>T (p.Thr654Ile)
|
|
|
NM_006939.4(SOS2):c.1965C>T (p.Asp655=)
|
|
|
NM_006939.4(SOS2):c.1981A>G (p.Ile661Val)
|
rs1460978115
|
|
NM_006939.4(SOS2):c.1983A>T (p.Ile661=)
|
|
|
NM_006939.4(SOS2):c.2005A>G (p.Ser669Gly)
|
|
|
NM_006939.4(SOS2):c.2007T>C (p.Ser669=)
|
rs577622341
|
|
NM_006939.4(SOS2):c.2022A>G (p.Arg674=)
|
|
|
NM_006939.4(SOS2):c.2034A>G (p.Glu678=)
|
|
|
NM_006939.4(SOS2):c.2046A>G (p.Pro682=)
|
rs2139618438
|
|
NM_006939.4(SOS2):c.204A>G (p.Gln68=)
|
|
|
NM_006939.4(SOS2):c.2057+12A>G
|
|
|
NM_006939.4(SOS2):c.2057+19_2057+20del
|
rs111970905
|
|
NM_006939.4(SOS2):c.2057+19_2057+20insA
|
|
|
NM_006939.4(SOS2):c.2057+20T>G
|
|
|
NM_006939.4(SOS2):c.2057+20_2057+22del
|
|
|
NM_006939.4(SOS2):c.2058-10A>G
|
rs1303671107
|
|
NM_006939.4(SOS2):c.2058-29_2058-10dup
|
|
|
NM_006939.4(SOS2):c.2058-4T>A
|
|
|
NM_006939.4(SOS2):c.2076G>A (p.Arg692=)
|
|
|
NM_006939.4(SOS2):c.2094T>C (p.His698=)
|
|
|
NM_006939.4(SOS2):c.20C>G (p.Pro7Arg)
|
|
|
NM_006939.4(SOS2):c.2106T>C (p.Phe702=)
|
|
|
NM_006939.4(SOS2):c.2109A>G (p.Glu703=)
|
|
|
NM_006939.4(SOS2):c.2118G>A (p.Leu706=)
|
rs2139604401
|
|
NM_006939.4(SOS2):c.213+10A>G
|
rs1785709173
|
|
NM_006939.4(SOS2):c.213+18A>C
|
rs143888968
|
|
NM_006939.4(SOS2):c.213+20T>G
|
|
|
NM_006939.4(SOS2):c.213+7A>G
|
|
|
NM_006939.4(SOS2):c.2136A>G (p.Leu712=)
|
|
|
NM_006939.4(SOS2):c.2137G>C (p.Glu713Gln)
|
rs534384816
|
|
NM_006939.4(SOS2):c.214-20G>A
|
|
|
NM_006939.4(SOS2):c.214-20G>T
|
|
|
NM_006939.4(SOS2):c.214-9A>G
|
|
|
NM_006939.4(SOS2):c.214-9A>T
|
|
|
NM_006939.4(SOS2):c.2155G>A (p.Val719Ile)
|
|
|
NM_006939.4(SOS2):c.2161+16G>T
|
|
|
NM_006939.4(SOS2):c.2161+16del
|
rs780462582
|
|
NM_006939.4(SOS2):c.2161+19del
|
rs1555369697
|
|
NM_006939.4(SOS2):c.2162-10C>G
|
|
|
NM_006939.4(SOS2):c.2162-12T>C
|
|
|
NM_006939.4(SOS2):c.2162-15G>A
|
|
|
NM_006939.4(SOS2):c.2162-18T>C
|
|
|
NM_006939.4(SOS2):c.2162-6T>A
|
|
|
NM_006939.4(SOS2):c.2190A>C (p.Ser730=)
|
|
|
NM_006939.4(SOS2):c.2203A>G (p.Ile735Val)
|
|
|
NM_006939.4(SOS2):c.2214G>A (p.Lys738=)
|
|
|
NM_006939.4(SOS2):c.2217G>A (p.Lys739=)
|
rs186110427
|
|
NM_006939.4(SOS2):c.2243A>G (p.His748Arg)
|
|
|
NM_006939.4(SOS2):c.2262T>C (p.Ser754=)
|
|
|
NM_006939.4(SOS2):c.2268T>G (p.Pro756=)
|
rs1555369534
|
|
NM_006939.4(SOS2):c.2276T>C (p.Ile759Thr)
|
|
|
NM_006939.4(SOS2):c.230C>G (p.Thr77Ser)
|
rs565261873
|
|
NM_006939.4(SOS2):c.2313A>G (p.Thr771=)
|
|
|
NM_006939.4(SOS2):c.2322C>G (p.Leu774=)
|
rs781235783
|
|
NM_006939.4(SOS2):c.2328A>T (p.Thr776=)
|
rs116162949
|
|
NM_006939.4(SOS2):c.2329C>T (p.Leu777Phe)
|
rs151074097
|
|
NM_006939.4(SOS2):c.2337A>G (p.Pro779=)
|
|
|
NM_006939.4(SOS2):c.2356C>T (p.Leu786=)
|
rs1884611451
|
|
NM_006939.4(SOS2):c.2361A>G (p.Thr787=)
|
|
|
NM_006939.4(SOS2):c.237T>A (p.Pro79=)
|
|
|
NM_006939.4(SOS2):c.2384+10_2384+13del
|
|
|
NM_006939.4(SOS2):c.2384+16_2384+21del
|
rs750693332
|
|
NM_006939.4(SOS2):c.2384+20G>T
|
|
|
NM_006939.4(SOS2):c.2385-19C>T
|
|
|
NM_006939.4(SOS2):c.2385-4A>G
|
|
|
NM_006939.4(SOS2):c.2394A>G (p.Gln798=)
|
|
|
NM_006939.4(SOS2):c.2397G>A (p.Pro799=)
|
rs770022419
|
|
NM_006939.4(SOS2):c.2406T>C (p.Leu802=)
|
|
|
NM_006939.4(SOS2):c.2442A>C (p.Ile814=)
|
|
|
NM_006939.4(SOS2):c.2472C>A (p.Arg824=)
|
|
|
NM_006939.4(SOS2):c.2493C>T (p.Leu831=)
|
|
|
NM_006939.4(SOS2):c.2504+15A>T
|
|
|
NM_006939.4(SOS2):c.2505-11G>A
|
|
|
NM_006939.4(SOS2):c.2505-8G>A
|
|
|
NM_006939.4(SOS2):c.2510T>C (p.Ile837Thr)
|
|
|
NM_006939.4(SOS2):c.252A>G (p.Lys84=)
|
|
|
NM_006939.4(SOS2):c.2574A>G (p.Gln858=)
|
|
|
NM_006939.4(SOS2):c.2586T>C (p.Asp862=)
|
rs1594969928
|
|
NM_006939.4(SOS2):c.2661C>G (p.Thr887=)
|
|
|
NM_006939.4(SOS2):c.2667+14T>C
|
|
|
NM_006939.4(SOS2):c.2667+16A>G
|
|
|
NM_006939.4(SOS2):c.2667+20T>G
|
|
|
NM_006939.4(SOS2):c.2668-11_2668-9dup
|
|
|
NM_006939.4(SOS2):c.2668-18A>G
|
|
|
NM_006939.4(SOS2):c.2668-19A>G
|
|
|
NM_006939.4(SOS2):c.2668-19A>T
|
|
|
NM_006939.4(SOS2):c.2668-20C>G
|
|
|
NM_006939.4(SOS2):c.2668-20C>T
|
|
|
NM_006939.4(SOS2):c.2671C>T (p.Leu891=)
|
rs2139556792
|
|
NM_006939.4(SOS2):c.2701G>A (p.Glu901Lys)
|
rs556373963
|
|
NM_006939.4(SOS2):c.2740C>T (p.Leu914=)
|
rs1363925093
|
|
NM_006939.4(SOS2):c.2766A>T (p.Pro922=)
|
|
|
NM_006939.4(SOS2):c.2785+13A>T
|
|
|
NM_006939.4(SOS2):c.2785+14T>C
|
|
|
NM_006939.4(SOS2):c.2785+9C>G
|
rs2139556419
|
|
NM_006939.4(SOS2):c.2786-13T>C
|
|
|
NM_006939.4(SOS2):c.2786-16_2786-15insG
|
|
|
NM_006939.4(SOS2):c.2786-18_2786-17dup
|
rs201957103
|
|
NM_006939.4(SOS2):c.2814C>T (p.Thr938=)
|
|
|
NM_006939.4(SOS2):c.2853A>G (p.Lys951=)
|
|
|
NM_006939.4(SOS2):c.2880G>A (p.Arg960=)
|
|
|
NM_006939.4(SOS2):c.288A>G (p.Lys96=)
|
|
|
NM_006939.4(SOS2):c.2895T>C (p.Ile965=)
|
|
|
NM_006939.4(SOS2):c.2898T>G (p.Thr966=)
|
|
|
NM_006939.4(SOS2):c.2958+12C>T
|
|
|
NM_006939.4(SOS2):c.2958+9T>C
|
|
|
NM_006939.4(SOS2):c.2959-12_2959-9del
|
rs780266222
|
|
NM_006939.4(SOS2):c.2959-15T>C
|
|
|
NM_006939.4(SOS2):c.2959-19G>T
|
|
|
NM_006939.4(SOS2):c.2959-20T>G
|
rs375042033
|
|
NM_006939.4(SOS2):c.2959-4C>A
|
|
|
NM_006939.4(SOS2):c.2971A>G (p.Asn991Asp)
|
|
|
NM_006939.4(SOS2):c.2982C>T (p.Pro994=)
|
rs1432970491
|
|
NM_006939.4(SOS2):c.2997T>C (p.Ser999=)
|
|
|
NM_006939.4(SOS2):c.3003A>G (p.Lys1001=)
|
rs546284255
|
|
NM_006939.4(SOS2):c.3006G>A (p.Glu1002=)
|
|
|
NM_006939.4(SOS2):c.3075+11dup
|
|
|
NM_006939.4(SOS2):c.3075+13T>C
|
rs2139528519
|
|
NM_006939.4(SOS2):c.3075+20G>A
|
|
|
NM_006939.4(SOS2):c.3076-12T>C
|
rs2139513366
|
|
NM_006939.4(SOS2):c.3076-19T>C
|
|
|
NM_006939.4(SOS2):c.3076-8T>C
|
|
|
NM_006939.4(SOS2):c.3153T>C (p.Thr1051=)
|
|
|
NM_006939.4(SOS2):c.3171A>G (p.Thr1057=)
|
|
|
NM_006939.4(SOS2):c.3191G>A (p.Cys1064Tyr)
|
|
|
NM_006939.4(SOS2):c.3216T>C (p.Ala1072=)
|
|
|
NM_006939.4(SOS2):c.3237A>G (p.Thr1079=)
|
|
|
NM_006939.4(SOS2):c.324C>A (p.Asp108Glu)
|
|
|
NM_006939.4(SOS2):c.3277C>G (p.Pro1093Ala)
|
|
|
NM_006939.4(SOS2):c.330C>A (p.Ile110=)
|
|
|
NM_006939.4(SOS2):c.3327C>T (p.Asn1109=)
|
|
|
NM_006939.4(SOS2):c.3337+10T>C
|
|
|
NM_006939.4(SOS2):c.3337+17_3337+18dup
|
|
|
NM_006939.4(SOS2):c.3338-8del
|
rs2139510301
|
|
NM_006939.4(SOS2):c.333T>C (p.His111=)
|
|
|
NM_006939.4(SOS2):c.3348C>T (p.Ser1116=)
|
|
|
NM_006939.4(SOS2):c.3360A>C (p.Pro1120=)
|
rs147513220
|
|
NM_006939.4(SOS2):c.3379+11T>C
|
|
|
NM_006939.4(SOS2):c.3379+17T>C
|
|
|
NM_006939.4(SOS2):c.3379+7A>G
|
|
|
NM_006939.4(SOS2):c.3380-10T>C
|
|
|
NM_006939.4(SOS2):c.3384T>G (p.Ser1128=)
|
|
|
NM_006939.4(SOS2):c.3390T>C (p.Phe1130=)
|
|
|
NM_006939.4(SOS2):c.3396A>C (p.Ser1132=)
|
|
|
NM_006939.4(SOS2):c.3447T>G (p.Leu1149=)
|
|
|
NM_006939.4(SOS2):c.345+7A>G
|
|
|
NM_006939.4(SOS2):c.346-10_346-8del
|
|
|
NM_006939.4(SOS2):c.346-11T>C
|
|
|
NM_006939.4(SOS2):c.346-21_346-17del
|
|
|
NM_006939.4(SOS2):c.346-5C>T
|
|
|
NM_006939.4(SOS2):c.346-6T>A
|
|
|
NM_006939.4(SOS2):c.3470A>G (p.His1157Arg)
|
|
|
NM_006939.4(SOS2):c.3489+18A>G
|
|
|
NM_006939.4(SOS2):c.3489+8del
|
|
|
NM_006939.4(SOS2):c.348A>G (p.Glu116=)
|
|
|
NM_006939.4(SOS2):c.3490-10_3490-9insC
|
|
|
NM_006939.4(SOS2):c.3490-14dup
|
|
|
NM_006939.4(SOS2):c.3490-18A>G
|
|
|
NM_006939.4(SOS2):c.3490-18del
|
rs1302818165
|
|
NM_006939.4(SOS2):c.3501A>G (p.Lys1167=)
|
|
|
NM_006939.4(SOS2):c.3521C>T (p.Ala1174Val)
|
|
|
NM_006939.4(SOS2):c.3540T>G (p.Pro1180=)
|
rs1052780824
|
|
NM_006939.4(SOS2):c.3540TCC[4] (p.Pro1183dup)
|
rs765097073
|
|
NM_006939.4(SOS2):c.3543T>C (p.Pro1181=)
|
|
|
NM_006939.4(SOS2):c.3584C>T (p.Ala1195Val)
|
rs753151750
|
|
NM_006939.4(SOS2):c.3588T>C (p.Phe1196=)
|
rs768208805
|
|
NM_006939.4(SOS2):c.3598C>T (p.Leu1200=)
|
|
|
NM_006939.4(SOS2):c.3624A>G (p.Pro1208=)
|
|
|
NM_006939.4(SOS2):c.3632C>T (p.Pro1211Leu)
|
|
|
NM_006939.4(SOS2):c.3645C>G (p.Thr1215=)
|
|
|
NM_006939.4(SOS2):c.3663T>G (p.Leu1221=)
|
|
|
NM_006939.4(SOS2):c.3672A>C (p.Pro1224=)
|
|
|
NM_006939.4(SOS2):c.3681T>C (p.Phe1227=)
|
|
|
NM_006939.4(SOS2):c.3682A>G (p.Ile1228Val)
|
|
|
NM_006939.4(SOS2):c.3684A>T (p.Ile1228=)
|
|
|
NM_006939.4(SOS2):c.3708A>G (p.Pro1236=)
|
|
|
NM_006939.4(SOS2):c.3714A>T (p.Pro1238=)
|
|
|
NM_006939.4(SOS2):c.3747C>T (p.Leu1249=)
|
|
|
NM_006939.4(SOS2):c.3755_3757del (p.Ile1252del)
|
rs775506222
|
|
NM_006939.4(SOS2):c.3758G>A (p.Ser1253Asn)
|
|
|
NM_006939.4(SOS2):c.375T>C (p.His125=)
|
|
|
NM_006939.4(SOS2):c.3761C>T (p.Thr1254Met)
|
|
|
NM_006939.4(SOS2):c.3762G>A (p.Thr1254=)
|
rs769536087
|
|
NM_006939.4(SOS2):c.3772T>G (p.Ser1258Ala)
|
rs1344396759
|
|
NM_006939.4(SOS2):c.3773C>T (p.Ser1258Leu)
|
|
|
NM_006939.4(SOS2):c.3779G>A (p.Ser1260Asn)
|
|
|
NM_006939.4(SOS2):c.3798C>G (p.Pro1266=)
|
rs1271341173
|
|
NM_006939.4(SOS2):c.3810A>G (p.Val1270=)
|
|
|
NM_006939.4(SOS2):c.3812C>T (p.Pro1271Leu)
|
|
|
NM_006939.4(SOS2):c.3813G>C (p.Pro1271=)
|
rs2227276
|
|
NM_006939.4(SOS2):c.3813G>T (p.Pro1271=)
|
|
|
NM_006939.4(SOS2):c.381C>T (p.Ser127=)
|
|
|
NM_006939.4(SOS2):c.3837T>C (p.Ser1279=)
|
|
|
NM_006939.4(SOS2):c.3849T>C (p.Asn1283=)
|
|
|
NM_006939.4(SOS2):c.3901C>T (p.His1301Tyr)
|
|
|
NM_006939.4(SOS2):c.3935G>A (p.Arg1312Gln)
|
|
|
NM_006939.4(SOS2):c.3951C>G (p.Pro1317=)
|
|
|
NM_006939.4(SOS2):c.3951C>T (p.Pro1317=)
|
|
|
NM_006939.4(SOS2):c.3975A>G (p.Leu1325=)
|
|
|
NM_006939.4(SOS2):c.3996A>G (p.Gln1332=)
|
|
|
NM_006939.4(SOS2):c.399A>C (p.Val133=)
|
rs144584870
|
|
NM_006939.4(SOS2):c.399A>G (p.Val133=)
|
rs144584870
|
|
NM_006939.4(SOS2):c.399A>T (p.Val133=)
|
|
|
NM_006939.4(SOS2):c.405G>A (p.Glu135=)
|
rs754980356
|
|
NM_006939.4(SOS2):c.432G>A (p.Leu144=)
|
rs1051166055
|
|
NM_006939.4(SOS2):c.453T>C (p.Asn151=)
|
rs2139778987
|
|
NM_006939.4(SOS2):c.459G>A (p.Arg153=)
|
|
|
NM_006939.4(SOS2):c.465T>C (p.Tyr155=)
|
|
|
NM_006939.4(SOS2):c.483C>T (p.Asp161=)
|
|
|
NM_006939.4(SOS2):c.489A>G (p.Lys163=)
|
|
|
NM_006939.4(SOS2):c.510+11C>A
|
rs113890555
|
|
NM_006939.4(SOS2):c.510+15G>A
|
rs1359205719
|
|
NM_006939.4(SOS2):c.510+15G>T
|
|
|
NM_006939.4(SOS2):c.510+16del
|
|
|
NM_006939.4(SOS2):c.511-11C>T
|
rs2139734747
|
|
NM_006939.4(SOS2):c.511-16G>A
|
|
|
NM_006939.4(SOS2):c.511-17T>A
|
|
|
NM_006939.4(SOS2):c.511-20T>C
|
|
|
NM_006939.4(SOS2):c.511-24_511-18del
|
|
|
NM_006939.4(SOS2):c.511-8T>C
|
|
|
NM_006939.4(SOS2):c.546T>A (p.Gly182=)
|
|
|
NM_006939.4(SOS2):c.550G>C (p.Val184Leu)
|
|
|
NM_006939.4(SOS2):c.567T>C (p.Asp189=)
|
|
|
NM_006939.4(SOS2):c.584G>C (p.Gly195Ala)
|
|
|
NM_006939.4(SOS2):c.609C>T (p.Val203=)
|
|
|
NM_006939.4(SOS2):c.642A>C (p.Leu214=)
|
rs2139734016
|
|
NM_006939.4(SOS2):c.67T>C (p.Leu23=)
|
|
|
NM_006939.4(SOS2):c.693T>C (p.Asp231=)
|
rs2139733831
|
|
NM_006939.4(SOS2):c.708A>G (p.Lys236=)
|
|
|
NM_006939.4(SOS2):c.709C>A (p.Pro237Thr)
|
|
|
NM_006939.4(SOS2):c.714+12T>C
|
|
|
NM_006939.4(SOS2):c.714+9C>T
|
|
|
NM_006939.4(SOS2):c.715-15C>T
|
rs2139710269
|
|
NM_006939.4(SOS2):c.715-15_715-12del
|
|
|
NM_006939.4(SOS2):c.715-4T>A
|
|
|
NM_006939.4(SOS2):c.72C>A (p.Val24=)
|
|
|
NM_006939.4(SOS2):c.744A>G (p.Ser248=)
|
rs2139710078
|
|
NM_006939.4(SOS2):c.757T>C (p.Leu253=)
|
|
|
NM_006939.4(SOS2):c.843T>C (p.Phe281=)
|
rs2139709667
|
|
NM_006939.4(SOS2):c.846A>G (p.Glu282=)
|
rs776312082
|
|
NM_006939.4(SOS2):c.849T>C (p.Asp283=)
|
|
|
NM_006939.4(SOS2):c.852G>A (p.Leu284=)
|
|
|
NM_006939.4(SOS2):c.858+12A>C
|
|
|
NM_006939.4(SOS2):c.858+12A>G
|
rs1318750223
|
|
NM_006939.4(SOS2):c.858+19T>A
|
rs780544622
|
|
NM_006939.4(SOS2):c.858+20T>C
|
|
|
NM_006939.4(SOS2):c.859-16_859-15del
|
|
|
NM_006939.4(SOS2):c.859-19T>A
|
|
|
NM_006939.4(SOS2):c.859-19T>C
|
rs1435577590
|
|
NM_006939.4(SOS2):c.864A>G (p.Gln288=)
|
|
|
NM_006939.4(SOS2):c.87+11G>A
|
|
|
NM_006939.4(SOS2):c.87+18G>A
|
|
|
NM_006939.4(SOS2):c.88-14dup
|
rs779198092
|
|
NM_006939.4(SOS2):c.88-16T>C
|
|
|
NM_006939.4(SOS2):c.88-19T>C
|
|
|
NM_006939.4(SOS2):c.88-19T>G
|
|
|
NM_006939.4(SOS2):c.88-8T>C
|
|
|
NM_006939.4(SOS2):c.88-9T>G
|
|
|
NM_006939.4(SOS2):c.894G>A (p.Gln298=)
|
rs1477278734
|
|
NM_006939.4(SOS2):c.917A>G (p.His306Arg)
|
|
|
NM_006939.4(SOS2):c.942C>G (p.Ala314=)
|
|
|
NM_006939.4(SOS2):c.958C>G (p.Leu320Val)
|
|
|
NM_006939.4(SOS2):c.969+18G>T
|
|
|
NM_006939.4(SOS2):c.969+18dup
|
|
|
NM_006939.4(SOS2):c.969+19T>G
|
|
|
NM_006939.4(SOS2):c.970-15C>A
|
|
|
NM_006939.4(SOS2):c.970-15C>G
|
|
|
NM_006939.4(SOS2):c.970-16T>C
|
|
|
NM_006939.4(SOS2):c.99A>G (p.Gln33=)
|
|
|
NM_007373.4(SHOC2):c.*1775del
|
rs527775221
|
|
NM_007373.4(SHOC2):c.1023T>C (p.Asn341=)
|
|
|
NM_007373.4(SHOC2):c.1032G>A (p.Gln344=)
|
|
|
NM_007373.4(SHOC2):c.1044G>T (p.Val348=)
|
|
|
NM_007373.4(SHOC2):c.1053A>G (p.Pro351=)
|
|
|
NM_007373.4(SHOC2):c.1092C>T (p.His364=)
|
rs748214044
|
|
NM_007373.4(SHOC2):c.1095T>C (p.Asn365=)
|
|
|
NM_007373.4(SHOC2):c.1098A>C (p.Arg366=)
|
|
|
NM_007373.4(SHOC2):c.1152G>A (p.Leu384=)
|
|
|
NM_007373.4(SHOC2):c.1161+15G>C
|
|
|
NM_007373.4(SHOC2):c.1161+9A>C
|
rs201795589
|
|
NM_007373.4(SHOC2):c.1162-13T>C
|
|
|
NM_007373.4(SHOC2):c.1162-15T>C
|
|
|
NM_007373.4(SHOC2):c.1162-18T>G
|
|
|
NM_007373.4(SHOC2):c.1162-19T>G
|
|
|
NM_007373.4(SHOC2):c.1162-4C>T
|
|
|
NM_007373.4(SHOC2):c.1162-5G>T
|
|
|
NM_007373.4(SHOC2):c.1176A>G (p.Thr392=)
|
|
|
NM_007373.4(SHOC2):c.1179A>G (p.Ser393=)
|
|
|
NM_007373.4(SHOC2):c.1185C>T (p.Pro395=)
|
rs369036204
|
|
NM_007373.4(SHOC2):c.1186T>C (p.Leu396=)
|
rs1554863245
|
|
NM_007373.4(SHOC2):c.1207A>G (p.Ser403Gly)
|
|
|
NM_007373.4(SHOC2):c.1219T>C (p.Leu407=)
|
|
|
NM_007373.4(SHOC2):c.1254T>C (p.Pro418=)
|
|
|
NM_007373.4(SHOC2):c.1272C>A (p.Leu424=)
|
rs144379168
|
|
NM_007373.4(SHOC2):c.1281T>C (p.Leu427=)
|
|
|
NM_007373.4(SHOC2):c.1284+12T>C
|
rs147007474
|
|
NM_007373.4(SHOC2):c.1284+17A>T
|
|
|
NM_007373.4(SHOC2):c.1285-18T>C
|
|
|
NM_007373.4(SHOC2):c.1285-20_1285-18del
|
rs781425507
|
|
NM_007373.4(SHOC2):c.1285-5A>C
|
|
|
NM_007373.4(SHOC2):c.1290T>C (p.Leu430=)
|
|
|
NM_007373.4(SHOC2):c.129T>C (p.Pro43=)
|
|
|
NM_007373.4(SHOC2):c.1335A>G (p.Gly445=)
|
|
|
NM_007373.4(SHOC2):c.1347G>A (p.Lys449=)
|
|
|
NM_007373.4(SHOC2):c.1407T>C (p.Tyr469=)
|
|
|
NM_007373.4(SHOC2):c.1422+11T>G
|
|
|
NM_007373.4(SHOC2):c.1422+15G>T
|
|
|
NM_007373.4(SHOC2):c.1422+9_1422+11del
|
rs750754038
|
|
NM_007373.4(SHOC2):c.1423-18A>G
|
rs1228751828
|
|
NM_007373.4(SHOC2):c.1461C>A (p.Pro487=)
|
rs2134180702
|
|
NM_007373.4(SHOC2):c.1485T>C (p.Asn495=)
|
|
|
NM_007373.4(SHOC2):c.1503T>C (p.Leu501=)
|
|
|
NM_007373.4(SHOC2):c.1515A>G (p.Leu505=)
|
|
|
NM_007373.4(SHOC2):c.1518T>G (p.Leu506=)
|
|
|
NM_007373.4(SHOC2):c.1540+18G>A
|
|
|
NM_007373.4(SHOC2):c.1540+8C>A
|
rs771283010
|
|
NM_007373.4(SHOC2):c.1540+8C>T
|
rs771283010
|
|
NM_007373.4(SHOC2):c.1540+9C>T
|
|
|
NM_007373.4(SHOC2):c.1541-18G>C
|
|
|
NM_007373.4(SHOC2):c.1541-19T>G
|
|
|
NM_007373.4(SHOC2):c.1541-20T>A
|
|
|
NM_007373.4(SHOC2):c.1541-6A>C
|
|
|
NM_007373.4(SHOC2):c.1541-6A>G
|
|
|
NM_007373.4(SHOC2):c.1541-7T>A
|
rs1564732053
|
|
NM_007373.4(SHOC2):c.1541-7dup
|
rs371544139
|
|
NM_007373.4(SHOC2):c.1557A>G (p.Leu519=)
|
|
|
NM_007373.4(SHOC2):c.1566G>C (p.Leu522=)
|
|
|
NM_007373.4(SHOC2):c.1602C>G (p.Pro534=)
|
|
|
NM_007373.4(SHOC2):c.1608G>A (p.Glu536=)
|
rs2134183063
|
|
NM_007373.4(SHOC2):c.1614A>G (p.Ala538=)
|
|
|
NM_007373.4(SHOC2):c.1656A>C (p.Pro552=)
|
rs2134183125
|
|
NM_007373.4(SHOC2):c.1674T>G (p.Pro558=)
|
rs1554863867
|
|
NM_007373.4(SHOC2):c.1692G>A (p.Gly564=)
|
rs2134183184
|
|
NM_007373.4(SHOC2):c.1695T>A (p.Pro565=)
|
|
|
NM_007373.4(SHOC2):c.186A>C (p.Pro62=)
|
|
|
NM_007373.4(SHOC2):c.192G>A (p.Val64=)
|
rs1185076769
|
|
NM_007373.4(SHOC2):c.210T>C (p.Asn70=)
|
|
|
NM_007373.4(SHOC2):c.213G>A (p.Thr71=)
|
|
|
NM_007373.4(SHOC2):c.240G>T (p.Gly80=)
|
rs2134121303
|
|
NM_007373.4(SHOC2):c.261T>C (p.Asn87=)
|
|
|
NM_007373.4(SHOC2):c.270G>A (p.Val90=)
|
|
|
NM_007373.4(SHOC2):c.27A>G (p.Lys9=)
|
|
|
NM_007373.4(SHOC2):c.323C>G (p.Ser108Cys)
|
|
|
NM_007373.4(SHOC2):c.348A>G (p.Pro116=)
|
|
|
NM_007373.4(SHOC2):c.351A>C (p.Ser117=)
|
rs1847640105
|
|
NM_007373.4(SHOC2):c.364T>C (p.Leu122=)
|
|
|
NM_007373.4(SHOC2):c.408G>A (p.Gln136=)
|
|
|
NM_007373.4(SHOC2):c.423G>A (p.Glu141=)
|
rs1847641416
|
|
NM_007373.4(SHOC2):c.441T>C (p.Asn147=)
|
rs2134121592
|
|
NM_007373.4(SHOC2):c.450A>G (p.Thr150=)
|
|
|
NM_007373.4(SHOC2):c.451C>T (p.Leu151=)
|
|
|
NM_007373.4(SHOC2):c.459A>G (p.Leu153=)
|
|
|
NM_007373.4(SHOC2):c.468T>C (p.Asn156=)
|
|
|
NM_007373.4(SHOC2):c.471A>G (p.Ser157=)
|
|
|
NM_007373.4(SHOC2):c.489C>T (p.Asp163=)
|
|
|
NM_007373.4(SHOC2):c.591T>C (p.Leu197=)
|
|
|
NM_007373.4(SHOC2):c.600C>G (p.Arg200=)
|
rs1188255409
|
|
NM_007373.4(SHOC2):c.636A>G (p.Lys212=)
|
|
|
NM_007373.4(SHOC2):c.645A>G (p.Ser215=)
|
rs2134121976
|
|
NM_007373.4(SHOC2):c.660T>C (p.Leu220=)
|
rs1342653646
|
|
NM_007373.4(SHOC2):c.663C>T (p.Ser221=)
|
|
|
NM_007373.4(SHOC2):c.703+15ATT[3]
|
rs370351651
|
|
NM_007373.4(SHOC2):c.703+15ATT[5]
|
|
|
NM_007373.4(SHOC2):c.703+17T>G
|
|
|
NM_007373.4(SHOC2):c.703+8G>A
|
|
|
NM_007373.4(SHOC2):c.711A>G (p.Leu237=)
|
|
|
NM_007373.4(SHOC2):c.720C>A (p.Leu240=)
|
rs759714493
|
|
NM_007373.4(SHOC2):c.726G>A (p.Thr242=)
|
|
|
NM_007373.4(SHOC2):c.726G>T (p.Thr242=)
|
|
|
NM_007373.4(SHOC2):c.741C>T (p.His247=)
|
rs1264093977
|
|
NM_007373.4(SHOC2):c.774A>G (p.Gly258=)
|
rs753237615
|
|
NM_007373.4(SHOC2):c.786G>A (p.Gln262=)
|
|
|
NM_007373.4(SHOC2):c.79G>C (p.Glu27Gln)
|
|
|
NM_007373.4(SHOC2):c.801C>T (p.Asp267=)
|
|
|
NM_007373.4(SHOC2):c.825C>T (p.Asp275=)
|
|
|
NM_007373.4(SHOC2):c.841+13A>G
|
rs1848065425
|
|
NM_007373.4(SHOC2):c.841+7G>A
|
rs2134149305
|
|
NM_007373.4(SHOC2):c.842-16T>G
|
|
|
NM_007373.4(SHOC2):c.842-16_842-15insG
|
|
|
NM_007373.4(SHOC2):c.842-20T>G
|
rs2134168524
|
|
NM_007373.4(SHOC2):c.843A>T (p.Gly281=)
|
|
|
NM_007373.4(SHOC2):c.84A>C (p.Ala28=)
|
rs753165612
|
|
NM_007373.4(SHOC2):c.873G>A (p.Leu291=)
|
|
|
NM_007373.4(SHOC2):c.888G>C (p.Leu296=)
|
rs2134168611
|
|
NM_007373.4(SHOC2):c.90C>T (p.Ala30=)
|
|
|
NM_007373.4(SHOC2):c.912A>G (p.Ala304=)
|
rs2134168641
|
|
NM_007373.4(SHOC2):c.927T>C (p.Leu309=)
|
|
|
NM_007373.4(SHOC2):c.951T>C (p.Asn317=)
|
|
|
NM_007373.4(SHOC2):c.972+11del
|
|
|
NM_007373.4(SHOC2):c.972+12A>G
|
rs913524232
|
|
NM_007373.4(SHOC2):c.972+16G>A
|
|
|
NM_007373.4(SHOC2):c.972+19A>G
|
|
|
NM_007373.4(SHOC2):c.979T>C (p.Leu327=)
|
rs1239801718
|
|
NM_014210.4(EVI2A):c.386ACA[3] (p.Asn132del)
|
rs773381280
|
|
NM_030662.4(MAP2K2):c.1041T>C (p.Asn347=)
|
|
|
NM_030662.4(MAP2K2):c.1046+12C>T
|
|
|
NM_030662.4(MAP2K2):c.1046+7G>A
|
rs1005472404
|
|
NM_030662.4(MAP2K2):c.1047-20C>T
|
|
|
NM_030662.4(MAP2K2):c.1050C>T (p.Leu350=)
|
|
|
NM_030662.4(MAP2K2):c.1053C>T (p.Ile351=)
|
rs2145041881
|
|
NM_030662.4(MAP2K2):c.1074G>C (p.Ala358=)
|
rs140896887
|
|
NM_030662.4(MAP2K2):c.1092+7G>A
|
|
|
NM_030662.4(MAP2K2):c.1093-14_1093-11del
|
|
|
NM_030662.4(MAP2K2):c.1093-16T>C
|
|
|
NM_030662.4(MAP2K2):c.1093-19G>T
|
rs571595941
|
|
NM_030662.4(MAP2K2):c.1101C>G (p.Thr367=)
|
rs1483599413
|
|
NM_030662.4(MAP2K2):c.1116C>T (p.Ser372=)
|
rs772111297
|
|
NM_030662.4(MAP2K2):c.1158C>T (p.Thr386=)
|
|
|
NM_030662.4(MAP2K2):c.1165C>T (p.Leu389=)
|
|
|
NM_030662.4(MAP2K2):c.1188G>A (p.Thr396=)
|
|
|
NM_030662.4(MAP2K2):c.1197C>G (p.Ala399=)
|
|
|
NM_030662.4(MAP2K2):c.149A>G (p.Gln50Arg)
|
rs1599307416
|
|
NM_030662.4(MAP2K2):c.150G>A (p.Gln50=)
|
|
|
NM_030662.4(MAP2K2):c.160C>T (p.Leu54=)
|
rs201581427
|
|
NM_030662.4(MAP2K2):c.162G>A (p.Leu54=)
|
|
|
NM_030662.4(MAP2K2):c.165A>G (p.Glu55=)
|
|
|
NM_030662.4(MAP2K2):c.168C>G (p.Ala56=)
|
|
|
NM_030662.4(MAP2K2):c.174C>T (p.Leu58=)
|
rs876657504
|
|
NM_030662.4(MAP2K2):c.183A>G (p.Lys61=)
|
|
|
NM_030662.4(MAP2K2):c.186C>T (p.Ala62=)
|
rs2145080416
|
|
NM_030662.4(MAP2K2):c.21G>A (p.Pro7=)
|
|
|
NM_030662.4(MAP2K2):c.234G>A (p.Leu78=)
|
|
|
NM_030662.4(MAP2K2):c.255G>A (p.Val85=)
|
|
|
NM_030662.4(MAP2K2):c.279C>G (p.Pro93=)
|
|
|
NM_030662.4(MAP2K2):c.279C>T (p.Pro93=)
|
rs1060504778
|
|
NM_030662.4(MAP2K2):c.282G>A (p.Ser94=)
|
rs1180688132
|
|
NM_030662.4(MAP2K2):c.291C>A (p.Ile97=)
|
rs200918323
|
|
NM_030662.4(MAP2K2):c.291C>T (p.Ile97=)
|
rs200918323
|
|
NM_030662.4(MAP2K2):c.303+13G>T
|
|
|
NM_030662.4(MAP2K2):c.303+15G>A
|
rs373530124
|
|
NM_030662.4(MAP2K2):c.303+15G>T
|
rs373530124
|
|
NM_030662.4(MAP2K2):c.304-10C>A
|
|
|
NM_030662.4(MAP2K2):c.304-11T>C
|
|
|
NM_030662.4(MAP2K2):c.304-15C>G
|
rs2145070470
|
|
NM_030662.4(MAP2K2):c.304-18G>A
|
rs766030589
|
|
NM_030662.4(MAP2K2):c.304-4G>A
|
|
|
NM_030662.4(MAP2K2):c.30G>A (p.Pro10=)
|
rs2145089952
|
|
NM_030662.4(MAP2K2):c.30G>C (p.Pro10=)
|
|
|
NM_030662.4(MAP2K2):c.315T>G (p.Leu105=)
|
rs761590887
|
|
NM_030662.4(MAP2K2):c.325C>G (p.Pro109Ala)
|
rs1060502983
|
|
NM_030662.4(MAP2K2):c.339C>T (p.Asn113=)
|
rs2041142483
|
|
NM_030662.4(MAP2K2):c.363C>A (p.Val121=)
|
|
|
NM_030662.4(MAP2K2):c.363C>G (p.Val121=)
|
|
|
NM_030662.4(MAP2K2):c.450+18A>G
|
|
|
NM_030662.4(MAP2K2):c.450+8C>T
|
|
|
NM_030662.4(MAP2K2):c.450+9G>T
|
rs375368051
|
|
NM_030662.4(MAP2K2):c.451-11G>A
|
|
|
NM_030662.4(MAP2K2):c.451-14T>C
|
rs2145057945
|
|
NM_030662.4(MAP2K2):c.451-20_451-17del
|
|
|
NM_030662.4(MAP2K2):c.451-4C>T
|
|
|
NM_030662.4(MAP2K2):c.451-6C>T
|
rs776864612
|
|
NM_030662.4(MAP2K2):c.45C>T (p.Asn15=)
|
rs767770776
|
|
NM_030662.4(MAP2K2):c.463C>T (p.Leu155=)
|
|
|
NM_030662.4(MAP2K2):c.4C>T (p.Leu2=)
|
|
|
NM_030662.4(MAP2K2):c.508C>T (p.Leu170=)
|
|
|
NM_030662.4(MAP2K2):c.513G>A (p.Gly171=)
|
|
|
NM_030662.4(MAP2K2):c.528+12G>A
|
|
|
NM_030662.4(MAP2K2):c.528+12G>T
|
|
|
NM_030662.4(MAP2K2):c.528+15G>A
|
|
|
NM_030662.4(MAP2K2):c.529-14G>T
|
rs756414078
|
|
NM_030662.4(MAP2K2):c.537G>A (p.Arg179=)
|
|
|
NM_030662.4(MAP2K2):c.543G>A (p.Leu181=)
|
|
|
NM_030662.4(MAP2K2):c.546G>A (p.Ala182=)
|
rs141402203
|
|
NM_030662.4(MAP2K2):c.546G>C (p.Ala182=)
|
rs141402203
|
|
NM_030662.4(MAP2K2):c.567G>A (p.Gln189=)
|
|
|
NM_030662.4(MAP2K2):c.570C>A (p.Ile190=)
|
|
|
NM_030662.4(MAP2K2):c.570C>T (p.Ile190=)
|
rs748355174
|
|
NM_030662.4(MAP2K2):c.580+12C>T
|
|
|
NM_030662.4(MAP2K2):c.580+18C>T
|
|
|
NM_030662.4(MAP2K2):c.580+8C>T
|
|
|
NM_030662.4(MAP2K2):c.581-4C>G
|
|
|
NM_030662.4(MAP2K2):c.581-8G>T
|
|
|
NM_030662.4(MAP2K2):c.591C>G (p.Pro197=)
|
|
|
NM_030662.4(MAP2K2):c.600C>T (p.Ile200=)
|
|
|
NM_030662.4(MAP2K2):c.630G>A (p.Leu210=)
|
|
|
NM_030662.4(MAP2K2):c.640G>A (p.Gly214Arg)
|
|
|
NM_030662.4(MAP2K2):c.642G>A (p.Gly214=)
|
rs1474601212
|
|
NM_030662.4(MAP2K2):c.643G>T (p.Val215Leu)
|
|
|
NM_030662.4(MAP2K2):c.660C>T (p.Ile220=)
|
|
|
NM_030662.4(MAP2K2):c.66A>G (p.Pro22=)
|
rs1297461977
|
|
NM_030662.4(MAP2K2):c.705+11G>T
|
|
|
NM_030662.4(MAP2K2):c.705+16C>G
|
|
|
NM_030662.4(MAP2K2):c.705+18C>G
|
|
|
NM_030662.4(MAP2K2):c.705+19T>C
|
|
|
NM_030662.4(MAP2K2):c.705+20C>G
|
|
|
NM_030662.4(MAP2K2):c.706-11C>T
|
|
|
NM_030662.4(MAP2K2):c.706-15C>G
|
|
|
NM_030662.4(MAP2K2):c.706-15_706-14del
|
rs1255196775
|
|
NM_030662.4(MAP2K2):c.706-17C>T
|
rs754737193
|
|
NM_030662.4(MAP2K2):c.706-19C>T
|
|
|
NM_030662.4(MAP2K2):c.706-9C>G
|
|
|
NM_030662.4(MAP2K2):c.708G>A (p.Pro236=)
|
|
|
NM_030662.4(MAP2K2):c.715T>C (p.Leu239=)
|
|
|
NM_030662.4(MAP2K2):c.768C>G (p.Ser256=)
|
rs774404449
|
|
NM_030662.4(MAP2K2):c.792G>A (p.Arg264=)
|
|
|
NM_030662.4(MAP2K2):c.801C>T (p.Ile267=)
|
|
|
NM_030662.4(MAP2K2):c.804C>T (p.Pro268=)
|
rs886038700
|
|
NM_030662.4(MAP2K2):c.807G>A (p.Pro269=)
|
|
|
NM_030662.4(MAP2K2):c.807G>T (p.Pro269=)
|
rs779598598
|
|
NM_030662.4(MAP2K2):c.813C>G (p.Asp271Glu)
|
rs201726622
|
|
NM_030662.4(MAP2K2):c.813C>T (p.Asp271=)
|
rs201726622
|
|
NM_030662.4(MAP2K2):c.847G>T (p.Val283Leu)
|
rs185999703
|
|
NM_030662.4(MAP2K2):c.852C>G (p.Val284=)
|
rs771633690
|
|
NM_030662.4(MAP2K2):c.855C>T (p.Asp285=)
|
|
|
NM_030662.4(MAP2K2):c.861A>G (p.Glu287=)
|
rs1431720692
|
|
NM_030662.4(MAP2K2):c.876C>T (p.His292=)
|
rs2145049738
|
|
NM_030662.4(MAP2K2):c.879C>T (p.Ser293=)
|
|
|
NM_030662.4(MAP2K2):c.885G>A (p.Ser295=)
|
rs368405565
|
|
NM_030662.4(MAP2K2):c.889C>A (p.Arg297=)
|
|
|
NM_030662.4(MAP2K2):c.900C>A (p.Pro300=)
|
|
|
NM_030662.4(MAP2K2):c.900C>T (p.Pro300=)
|
|
|
NM_030662.4(MAP2K2):c.903C>G (p.Pro301=)
|
rs560316877
|
|
NM_030662.4(MAP2K2):c.909C>T (p.Arg303=)
|
rs1060504777
|
|
NM_030662.4(MAP2K2):c.912C>A (p.Pro304=)
|
rs1006127521
|
|
NM_030662.4(MAP2K2):c.919+12A>C
|
|
|
NM_030662.4(MAP2K2):c.919+16G>A
|
|
|
NM_030662.4(MAP2K2):c.919+19A>C
|
rs757492030
|
|
NM_030662.4(MAP2K2):c.919+19A>G
|
rs757492030
|
|
NM_030662.4(MAP2K2):c.919+20C>T
|
|
|
NM_030662.4(MAP2K2):c.919+7C>T
|
|
|
NM_030662.4(MAP2K2):c.919+9T>G
|
|
|
NM_030662.4(MAP2K2):c.92+12G>T
|
rs2145089682
|
|
NM_030662.4(MAP2K2):c.92+15G>A
|
|
|
NM_030662.4(MAP2K2):c.92+18A>T
|
|
|
NM_030662.4(MAP2K2):c.920-12C>T
|
|
|
NM_030662.4(MAP2K2):c.920-14C>T
|
|
|
NM_030662.4(MAP2K2):c.920-17T>A
|
rs1057524145
|
|
NM_030662.4(MAP2K2):c.920-17TC[3]
|
|
|
NM_030662.4(MAP2K2):c.920-18A>G
|
|
|
NM_030662.4(MAP2K2):c.920-19C>T
|
|
|
NM_030662.4(MAP2K2):c.920-8C>G
|
|
|
NM_030662.4(MAP2K2):c.925G>A (p.Gly309Arg)
|
|
|
NM_030662.4(MAP2K2):c.93-10G>C
|
|
|
NM_030662.4(MAP2K2):c.93-10G>T
|
|
|
NM_030662.4(MAP2K2):c.93-11G>T
|
rs2145081006
|
|
NM_030662.4(MAP2K2):c.93-20del
|
|
|
NM_030662.4(MAP2K2):c.93-4G>T
|
rs751599552
|
|
NM_030662.4(MAP2K2):c.93-8C>T
|
|
|
NM_030662.4(MAP2K2):c.963C>A (p.Leu321=)
|
|
|
NM_030662.4(MAP2K2):c.984+12A>T
|
|
|
NM_030662.4(MAP2K2):c.984+15C>A
|
|
|
NM_030662.4(MAP2K2):c.984+8C>T
|
rs970652962
|
|
NM_030662.4(MAP2K2):c.985-14G>A
|
rs953403341
|
|
NM_030662.4(MAP2K2):c.985-14G>C
|
|
|
NM_030662.4(MAP2K2):c.985-15T>C
|
|
|
NM_030662.4(MAP2K2):c.985-16C>A
|
|
|
NM_030662.4(MAP2K2):c.985-18C>T
|
|
|
NM_030662.4(MAP2K2):c.985-19C>A
|
rs987549297
|
|
NM_030662.4(MAP2K2):c.985-19C>T
|
|
|
NM_030662.4(MAP2K2):c.985-5C>G
|
|
|
NM_030662.4(MAP2K2):c.985-7_985-5del
|
rs753469223
|
|
NM_030662.4(MAP2K2):c.990T>C (p.Pro330=)
|
|
|
NM_030662.4(MAP2K2):c.996G>A (p.Lys332=)
|
|
|
NM_030662.4(MAP2K2):c.999G>A (p.Leu333=)
|
|
|
NM_030662.4(MAP2K2):c.999G>T (p.Leu333=)
|
|
|
NM_033360.4(KRAS):c.*1539_*1541del
|
rs200038818
|
|
NM_033360.4(KRAS):c.*1748dup
|
rs71065923
|
|
NM_033360.4(KRAS):c.*2400dup
|
rs56128001
|
|
NM_033360.4(KRAS):c.*3385del
|
rs34176876
|
|
NM_033360.4(KRAS):c.*3804dup
|
rs142323886
|
|
NM_033360.4(KRAS):c.*4186_*4187del
|
rs34719539
|
|
NM_033360.4(KRAS):c.*4426_*4427dup
|
rs61764373
|
|
NM_033360.4(KRAS):c.*44C>T
|
rs1555192443
|
|
NM_033360.4(KRAS):c.*671C>T
|
rs566222739
|
|
NM_033360.4(KRAS):c.255T>C (p.Asn85=)
|
rs1592808282
|
|
NM_033360.4(KRAS):c.500G>C (p.Arg167Thr)
|
|
|
NM_152594.3(SPRED1):c.*1659_*1662del
|
rs57589132
|
|
NM_152594.3(SPRED1):c.*2611C>T
|
rs181716461
|
|
NM_152594.3(SPRED1):c.*5090dup
|
rs141174183
|
|
NM_152594.3(SPRED1):c.*581T>C
|
rs541503324
|
|
NM_152594.3(SPRED1):c.-156del
|
rs531519324
|
|
NM_152594.3(SPRED1):c.-294CT[2]
|
rs1048605006
|
|
NM_152594.3(SPRED1):c.1008A>G (p.Val336=)
|
rs1555392775
|
|
NM_152594.3(SPRED1):c.1011C>T (p.Tyr337=)
|
|
|
NM_152594.3(SPRED1):c.102T>C (p.Leu34=)
|
rs2140978435
|
|
NM_152594.3(SPRED1):c.1065T>C (p.Ala355=)
|
|
|
NM_152594.3(SPRED1):c.1110C>G (p.Leu370=)
|
rs876657584
|
|
NM_152594.3(SPRED1):c.1110C>T (p.Leu370=)
|
|
|
NM_152594.3(SPRED1):c.1143A>C (p.Ser381=)
|
|
|
NM_152594.3(SPRED1):c.1158T>C (p.Asp386=)
|
rs2141016567
|
|
NM_152594.3(SPRED1):c.1170C>G (p.Pro390=)
|
|
|
NM_152594.3(SPRED1):c.1170C>T (p.Pro390=)
|
|
|
NM_152594.3(SPRED1):c.117A>G (p.Leu39=)
|
|
|
NM_152594.3(SPRED1):c.1185T>C (p.Thr395=)
|
|
|
NM_152594.3(SPRED1):c.1185T>G (p.Thr395=)
|
|
|
NM_152594.3(SPRED1):c.1188C>T (p.Ser396=)
|
|
|
NM_152594.3(SPRED1):c.1194C>T (p.Asp398=)
|
rs2141016629
|
|
NM_152594.3(SPRED1):c.1200C>T (p.Phe400=)
|
rs2141016638
|
|
NM_152594.3(SPRED1):c.1203C>T (p.Cys401=)
|
|
|
NM_152594.3(SPRED1):c.1206G>A (p.Leu402=)
|
|
|
NM_152594.3(SPRED1):c.1215A>G (p.Leu405=)
|
rs1595764001
|
|
NM_152594.3(SPRED1):c.1224A>G (p.Val408=)
|
rs1888489718
|
|
NM_152594.3(SPRED1):c.1245A>G (p.Pro415=)
|
|
|
NM_152594.3(SPRED1):c.1254C>T (p.Cys418=)
|
rs2141016717
|
|
NM_152594.3(SPRED1):c.1285T>C (p.Cys429Arg)
|
|
|
NM_152594.3(SPRED1):c.1296A>G (p.Ala432=)
|
rs2141016767
|
|
NM_152594.3(SPRED1):c.1317A>G (p.Lys439=)
|
|
|
NM_152594.3(SPRED1):c.1329T>A (p.Ala443=)
|
|
|
NM_152594.3(SPRED1):c.159T>C (p.Asn53=)
|
|
|
NM_152594.3(SPRED1):c.174T>C (p.Phe58=)
|
rs1595733589
|
|
NM_152594.3(SPRED1):c.207+10A>G
|
rs918390069
|
|
NM_152594.3(SPRED1):c.207+12T>C
|
|
|
NM_152594.3(SPRED1):c.207+16T>G
|
rs1322998447
|
|
NM_152594.3(SPRED1):c.207+37A>G
|
rs2272105
|
|
NM_152594.3(SPRED1):c.208-10C>G
|
rs1353650192
|
|
NM_152594.3(SPRED1):c.208-11G>A
|
|
|
NM_152594.3(SPRED1):c.208-12G>C
|
|
|
NM_152594.3(SPRED1):c.21T>A (p.Thr7=)
|
|
|
NM_152594.3(SPRED1):c.228T>A (p.Leu76=)
|
rs763749955
|
|
NM_152594.3(SPRED1):c.279G>A (p.Lys93=)
|
rs778384985
|
|
NM_152594.3(SPRED1):c.282T>G (p.Ile94Met)
|
|
|
NM_152594.3(SPRED1):c.288C>T (p.Asp96=)
|
|
|
NM_152594.3(SPRED1):c.290_291delinsGA (p.Lys97Arg)
|
rs1555391042
|
|
NM_152594.3(SPRED1):c.300T>C (p.Gly100=)
|
|
|
NM_152594.3(SPRED1):c.32+12A>G
|
|
|
NM_152594.3(SPRED1):c.32+14T>C
|
rs2140943483
|
|
NM_152594.3(SPRED1):c.32+18C>G
|
|
|
NM_152594.3(SPRED1):c.32+18C>T
|
|
|
NM_152594.3(SPRED1):c.32+3_32+6dup
|
|
|
NM_152594.3(SPRED1):c.32+9C>T
|
|
|
NM_152594.3(SPRED1):c.33-14T>C
|
|
|
NM_152594.3(SPRED1):c.363G>A (p.Glu121=)
|
|
|
NM_152594.3(SPRED1):c.376+10C>A
|
rs2140994968
|
|
NM_152594.3(SPRED1):c.376+17A>G
|
|
|
NM_152594.3(SPRED1):c.376+19T>G
|
|
|
NM_152594.3(SPRED1):c.376+9T>G
|
rs1555391063
|
|
NM_152594.3(SPRED1):c.377-12C>T
|
|
|
NM_152594.3(SPRED1):c.377-16T>G
|
|
|
NM_152594.3(SPRED1):c.402T>C (p.Ala134=)
|
rs1341388240
|
|
NM_152594.3(SPRED1):c.408G>T (p.Gly136=)
|
|
|
NM_152594.3(SPRED1):c.423+10G>T
|
|
|
NM_152594.3(SPRED1):c.423+11G>A
|
|
|
NM_152594.3(SPRED1):c.423+17A>G
|
rs1263567092
|
|
NM_152594.3(SPRED1):c.423+19G>A
|
|
|
NM_152594.3(SPRED1):c.423+20G>A
|
|
|
NM_152594.3(SPRED1):c.423+8A>G
|
rs2140996685
|
|
NM_152594.3(SPRED1):c.424-19T>C
|
|
|
NM_152594.3(SPRED1):c.424-19T>G
|
|
|
NM_152594.3(SPRED1):c.435G>A (p.Glu145=)
|
|
|
NM_152594.3(SPRED1):c.444C>G (p.Ser148=)
|
|
|
NM_152594.3(SPRED1):c.459G>A (p.Lys153=)
|
rs1318587614
|
|
NM_152594.3(SPRED1):c.486T>G (p.Val162=)
|
rs2141007825
|
|
NM_152594.3(SPRED1):c.510C>T (p.Ser170=)
|
rs771673657
|
|
NM_152594.3(SPRED1):c.51G>A (p.Val17=)
|
rs864622421
|
|
NM_152594.3(SPRED1):c.52C>A (p.Arg18=)
|
|
|
NM_152594.3(SPRED1):c.531C>G (p.Pro177=)
|
|
|
NM_152594.3(SPRED1):c.531C>T (p.Pro177=)
|
rs1595756882
|
|
NM_152594.3(SPRED1):c.535G>A (p.Glu179Lys)
|
|
|
NM_152594.3(SPRED1):c.546T>C (p.Asn182=)
|
|
|
NM_152594.3(SPRED1):c.549C>T (p.Ala183=)
|
|
|
NM_152594.3(SPRED1):c.552A>G (p.Arg184=)
|
rs2141007956
|
|
NM_152594.3(SPRED1):c.570C>T (p.Ser190=)
|
|
|
NM_152594.3(SPRED1):c.576C>T (p.Ala192=)
|
|
|
NM_152594.3(SPRED1):c.582+17T>A
|
|
|
NM_152594.3(SPRED1):c.582+18T>C
|
|
|
NM_152594.3(SPRED1):c.583-15T>C
|
|
|
NM_152594.3(SPRED1):c.583-18A>C
|
rs2141014785
|
|
NM_152594.3(SPRED1):c.583-8T>C
|
|
|
NM_152594.3(SPRED1):c.588A>T (p.Thr196=)
|
|
|
NM_152594.3(SPRED1):c.60G>A (p.Val20=)
|
|
|
NM_152594.3(SPRED1):c.619A>C (p.Arg207=)
|
|
|
NM_152594.3(SPRED1):c.669A>G (p.Leu223=)
|
rs774530752
|
|
NM_152594.3(SPRED1):c.684+10G>A
|
rs1555392611
|
|
NM_152594.3(SPRED1):c.684+13A>G
|
|
|
NM_152594.3(SPRED1):c.685-13G>A
|
|
|
NM_152594.3(SPRED1):c.685-15_685-14del
|
rs566051898
|
|
NM_152594.3(SPRED1):c.685-17A>T
|
|
|
NM_152594.3(SPRED1):c.687C>T (p.Val229=)
|
rs376226762
|
|
NM_152594.3(SPRED1):c.69C>T (p.Thr23=)
|
|
|
NM_152594.3(SPRED1):c.751C>A (p.Arg251=)
|
rs1172820756
|
|
NM_152594.3(SPRED1):c.753A>T (p.Arg251=)
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NM_152594.3(SPRED1):c.777A>T (p.Ala259=)
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NM_152594.3(SPRED1):c.843G>A (p.Gln281=)
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rs1373204659
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NM_152594.3(SPRED1):c.852A>G (p.Lys284=)
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NM_152594.3(SPRED1):c.861T>C (p.Ser287=)
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NM_152594.3(SPRED1):c.879G>C (p.Leu293=)
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NM_152594.3(SPRED1):c.885T>C (p.Ser295=)
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NM_152594.3(SPRED1):c.888T>C (p.Cys296=)
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NM_152594.3(SPRED1):c.90A>C (p.Gly30=)
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NM_152594.3(SPRED1):c.912A>G (p.Ser304=)
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rs2141016283
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NM_152594.3(SPRED1):c.915C>G (p.Pro305=)
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rs2141016292
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NM_152594.3(SPRED1):c.939G>T (p.Thr313=)
|
rs140644874
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NM_152594.3(SPRED1):c.948C>G (p.Ser316=)
|
rs1595763720
|
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NM_152594.3(SPRED1):c.997T>G (p.Ser333Ala)
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NM_152594.3(SPRED1):c.999T>C (p.Ser333=)
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NM_152594.3(SPRED1):c.9G>A (p.Glu3=)
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rs1429162267
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