NM_005343.4(HRAS):c.81T>C (p.His27=)
|
rs12628
|
0.34645
|
NM_001042492.3(NF1):c.*871del
|
rs759306393
|
0.01272
|
NM_007373.4(SHOC2):c.*1487G>T
|
rs7074770
|
0.01049
|
NM_033360.4(KRAS):c.*525T>C
|
rs140080026
|
0.00652
|
NM_001042492.3(NF1):c.3198-3C>T
|
rs777759972
|
0.00502
|
NM_007373.4(SHOC2):c.-244G>T
|
rs192673935
|
0.00499
|
NM_005633.4(SOS1):c.*3451A>T
|
rs78411167
|
0.00429
|
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)
|
rs112306990
|
0.00398
|
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=)
|
rs2066733
|
0.00392
|
NM_001042492.3(NF1):c.3198-4T>C
|
rs587782218
|
0.00387
|
NM_005633.4(SOS1):c.*758A>T
|
rs182650589
|
0.00372
|
NM_002880.4(RAF1):c.*190G>A
|
rs528863135
|
0.00335
|
NM_005633.4(SOS1):c.*1309A>G
|
rs145273962
|
0.00319
|
NM_005633.4(SOS1):c.*1303C>A
|
rs115153488
|
0.00308
|
NM_007373.4(SHOC2):c.-159T>C
|
rs72819758
|
0.00305
|
NM_002834.5(PTPN11):c.*325G>A
|
rs192080780
|
0.00304
|
NM_005633.4(SOS1):c.*4023T>C
|
rs1043800
|
0.00233
|
NM_005633.4(SOS1):c.*3416_*3417del
|
rs200892895
|
0.00226
|
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_005188.4(CBL):c.*1918C>T
|
rs528450894
|
0.00210
|
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala)
|
rs114636635
|
0.00204
|
NM_001042492.3(NF1):c.*126G>A
|
rs184715593
|
0.00185
|
NM_005188.4(CBL):c.2484G>A (p.Pro828=)
|
rs149533467
|
0.00166
|
NM_002524.5(NRAS):c.*2523A>G
|
rs143441947
|
0.00163
|
NM_002524.5(NRAS):c.*3404T>C
|
rs185234485
|
0.00145
|
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=)
|
rs55865524
|
0.00127
|
NM_004985.5(KRAS):c.-160A>G
|
rs727503111
|
0.00124
|
NM_033360.4(KRAS):c.*986T>C
|
rs559143985
|
0.00120
|
NM_007373.4(SHOC2):c.*1486dup
|
rs549502834
|
0.00116
|
NM_033360.4(KRAS):c.*3766A>G
|
rs529959450
|
0.00108
|
NM_001042492.3(NF1):c.*1899A>G
|
rs547663480
|
0.00100
|
NM_002524.5(NRAS):c.*2805T>C
|
rs776606789
|
0.00100
|
NM_002524.5(NRAS):c.*2513T>A
|
rs150969241
|
0.00091
|
NM_005188.4(CBL):c.*6703T>C
|
rs562568416
|
0.00091
|
NM_007373.4(SHOC2):c.*656C>G
|
rs557334390
|
0.00090
|
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=)
|
rs138186428
|
0.00089
|
NM_005633.4(SOS1):c.*534C>T
|
rs773935049
|
0.00089
|
NM_002880.4(RAF1):c.1830A>G (p.Gln610=)
|
rs141791080
|
0.00088
|
NM_007373.4(SHOC2):c.*404A>G
|
rs539394184
|
0.00086
|
NM_005188.4(CBL):c.*918T>C
|
rs541035764
|
0.00083
|
NM_152594.3(SPRED1):c.*3745A>G
|
rs142928983
|
0.00080
|
NM_005188.4(CBL):c.*6575G>C
|
rs569180524
|
0.00077
|
NM_005188.4(CBL):c.2036+9G>T
|
rs142704935
|
0.00076
|
NM_152594.3(SPRED1):c.702C>G (p.Ile234Met)
|
rs138553244
|
0.00074
|
NM_002880.4(RAF1):c.-201C>A
|
rs532668125
|
0.00073
|
NM_033360.4(KRAS):c.*1826C>G
|
rs539213224
|
0.00073
|
NM_001042492.3(NF1):c.*3189G>A
|
rs548353495
|
0.00071
|
NM_152594.3(SPRED1):c.*4471C>A
|
rs574232846
|
0.00071
|
NM_152594.3(SPRED1):c.*4472C>A
|
rs541556786
|
0.00071
|
NM_001042492.3(NF1):c.*875T>A
|
rs886052806
|
0.00070
|
NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser)
|
rs142307980
|
0.00070
|
NM_004333.6(BRAF):c.1332G>A (p.Arg444=)
|
rs56101602
|
0.00068
|
NM_005188.4(CBL):c.*2224A>G
|
rs550910545
|
0.00065
|
NM_002834.5(PTPN11):c.-77G>A
|
rs766412799
|
0.00064
|
NM_002834.5(PTPN11):c.526-8C>A
|
rs184804143
|
0.00064
|
NM_152594.3(SPRED1):c.*3192G>A
|
rs566065329
|
0.00064
|
NM_002834.5(PTPN11):c.*799G>A
|
rs745319452
|
0.00062
|
NM_005188.4(CBL):c.*1733T>G
|
rs190569484
|
0.00062
|
NM_152594.3(SPRED1):c.-201G>A
|
rs770231868
|
0.00061
|
NM_005633.4(SOS1):c.*559C>T
|
rs572880679
|
0.00059
|
NM_002524.5(NRAS):c.*2618A>G
|
rs528439389
|
0.00058
|
NM_005633.4(SOS1):c.749T>C (p.Val250Ala)
|
rs139290271
|
0.00054
|
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile)
|
rs142004123
|
0.00053
|
NM_005633.4(SOS1):c.*3989G>C
|
rs751112874
|
0.00052
|
NM_002834.5(PTPN11):c.*4019C>T
|
rs886048982
|
0.00051
|
NM_005633.4(SOS1):c.2760G>A (p.Arg920=)
|
rs149092581
|
0.00051
|
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)
|
rs148176616
|
0.00048
|
NM_005188.4(CBL):c.*615C>T
|
rs769151797
|
0.00047
|
NM_005188.4(CBL):c.*7924C>A
|
rs758281196
|
0.00046
|
NM_005188.4(CBL):c.*950G>T
|
rs886047775
|
0.00046
|
NM_152594.3(SPRED1):c.*2359G>C
|
rs886051112
|
0.00045
|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00044
|
NM_002834.5(PTPN11):c.*3971A>G
|
rs572565511
|
0.00044
|
NM_005188.3(CBL):c.-113C>T
|
rs886047766
|
0.00043
|
NM_152594.3(SPRED1):c.-309C>T
|
rs578173447
|
0.00043
|
NM_005633.4(SOS1):c.*4014T>C
|
rs186738827
|
0.00040
|
NM_002834.5(PTPN11):c.*2150G>T
|
rs756441720
|
0.00039
|
NM_005633.4(SOS1):c.*3725T>C
|
rs72799430
|
0.00038
|
NM_007373.4(SHOC2):c.*685C>T
|
rs749942762
|
0.00038
|
NM_001042492.3(NF1):c.731-6A>C
|
rs369366499
|
0.00037
|
NM_006767.4(LZTR1):c.2511C>T (p.Gly837=)
|
rs202072955
|
0.00036
|
NM_002880.4(RAF1):c.-209G>A
|
rs727504351
|
0.00035
|
NM_033360.4(KRAS):c.*4619T>C
|
rs768891600
|
0.00035
|
NM_002524.5(NRAS):c.360G>A (p.Leu120=)
|
rs143020946
|
0.00034
|
NM_033360.4(KRAS):c.*886A>G
|
rs886049195
|
0.00033
|
NM_001042492.3(NF1):c.*3091A>C
|
rs570154156
|
0.00032
|
NM_005188.4(CBL):c.*8058C>T
|
rs569107221
|
0.00032
|
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val)
|
rs146315101
|
0.00031
|
NM_001042492.3(NF1):c.6922-16A>G
|
rs202158964
|
0.00030
|
NM_002834.5(PTPN11):c.48A>G (p.Ala16=)
|
rs372736227
|
0.00029
|
NM_005188.3(CBL):c.-122C>T
|
rs886047765
|
0.00029
|
NM_005188.4(CBL):c.*4877G>A
|
rs532404515
|
0.00029
|
NM_033360.4(KRAS):c.*314C>T
|
rs150334904
|
0.00029
|
NM_152594.3(SPRED1):c.944C>T (p.Pro315Leu)
|
rs115440602
|
0.00029
|
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.*1762A>C
|
rs374339697
|
0.00026
|
NM_005633.4(SOS1):c.698A>G (p.Asn233Ser)
|
rs144934321
|
0.00026
|
NM_006270.5(RRAS):c.49G>T (p.Gly17Trp)
|
rs373359206
|
0.00026
|
NM_033360.4(KRAS):c.*1831G>A
|
rs531344668
|
0.00026
|
NM_002524.5(NRAS):c.112-8A>G
|
rs9724626
|
0.00025
|
NM_002880.4(RAF1):c.909A>C (p.Thr303=)
|
rs5746219
|
0.00025
|
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn)
|
rs397507456
|
0.00025
|
NM_005188.4(CBL):c.*6678G>A
|
rs1033501528
|
0.00024
|
NM_152594.3(SPRED1):c.*565A>C
|
rs866578422
|
0.00023
|
NM_002524.5(NRAS):c.*2844T>A
|
rs530053161
|
0.00022
|
NM_002880.4(RAF1):c.-181T>C
|
rs886057920
|
0.00022
|
NM_005188.4(CBL):c.*5008C>G
|
rs548349917
|
0.00022
|
NM_005188.4(CBL):c.*6767C>G
|
rs539341635
|
0.00022
|
NM_152594.3(SPRED1):c.*105A>G
|
rs545295358
|
0.00022
|
NM_001042492.3(NF1):c.*2247T>C
|
rs745818146
|
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_004985.5(KRAS):c.264A>G (p.Lys88=)
|
rs370920665
|
0.00021
|
NM_006767.4(LZTR1):c.1412G>A (p.Arg471His)
|
rs139031749
|
0.00021
|
NM_152594.3(SPRED1):c.886T>C (p.Cys296Arg)
|
rs554327738
|
0.00021
|
NM_002524.5(NRAS):c.-106G>T
|
rs755583487
|
0.00020
|
NM_002834.5(PTPN11):c.*687C>T
|
rs748512308
|
0.00020
|
NM_004333.6(BRAF):c.*216T>C
|
rs184804021
|
0.00020
|
NM_005633.4(SOS1):c.*3252A>C
|
rs769883659
|
0.00020
|
NM_006270.5(RRAS):c.338G>A (p.Arg113Gln)
|
rs766259420
|
0.00020
|
NM_033360.4(KRAS):c.*4549G>C
|
rs545014897
|
0.00020
|
NM_152594.3(SPRED1):c.*5540A>G
|
rs551994427
|
0.00020
|
NM_001042492.3(NF1):c.*1208C>T
|
rs556230487
|
0.00019
|
NM_001042492.3(NF1):c.1032A>G (p.Leu344=)
|
rs199832006
|
0.00019
|
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=)
|
rs144091165
|
0.00019
|
NM_002524.5(NRAS):c.*111A>G
|
rs188272768
|
0.00019
|
NM_005633.4(SOS1):c.233T>G (p.Phe78Cys)
|
rs201352584
|
0.00019
|
NM_007373.4(SHOC2):c.*1245T>C
|
rs754913685
|
0.00019
|
NM_001042492.3(NF1):c.*3266G>A
|
rs548117626
|
0.00018
|
NM_001042492.3(NF1):c.-249_-247dup
|
rs886052786
|
0.00018
|
NM_005633.4(SOS1):c.*185A>G
|
rs556367844
|
0.00018
|
NM_005633.4(SOS1):c.*4C>T
|
rs188849286
|
0.00018
|
NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser)
|
rs142863840
|
0.00018
|
NM_001042492.3(NF1):c.-229C>G
|
rs886052789
|
0.00017
|
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val)
|
rs201712827
|
0.00017
|
NM_005633.4(SOS1):c.3286T>A (p.Ser1096Thr)
|
rs376722127
|
0.00017
|
NM_005633.4(SOS1):c.3347-1G>A
|
rs141565234
|
0.00017
|
NM_152594.3(SPRED1):c.*4304G>A
|
rs537477031
|
0.00017
|
NM_002834.5(PTPN11):c.*1806G>A
|
rs766598691
|
0.00016
|
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_004985.5(KRAS):c.198A>G (p.Ala66=)
|
rs200229810
|
0.00016
|
NM_005188.4(CBL):c.*5044C>T
|
rs956413373
|
0.00016
|
NM_005633.4(SOS1):c.109A>G (p.Thr37Ala)
|
rs150565592
|
0.00016
|
NM_005633.4(SOS1):c.2966G>A (p.Arg989Lys)
|
rs202043599
|
0.00016
|
NM_005633.4(SOS1):c.3706C>A (p.Pro1236Thr)
|
rs727504636
|
0.00016
|
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala)
|
rs371408734
|
0.00016
|
NM_006939.4(SOS2):c.2385-3T>C
|
rs374402293
|
0.00016
|
NM_006939.4(SOS2):c.599A>G (p.Tyr200Cys)
|
rs148595463
|
0.00016
|
NM_033360.4(KRAS):c.*3575T>C
|
rs749403585
|
0.00016
|
NM_033360.4(KRAS):c.*3672C>G
|
rs188922523
|
0.00016
|
NM_033360.4(KRAS):c.-180G>A
|
rs886049201
|
0.00016
|
NM_152594.3(SPRED1):c.*4822A>G
|
rs576136057
|
0.00016
|
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)
|
rs201047812
|
0.00015
|
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu)
|
rs148736217
|
0.00015
|
NM_002834.5(PTPN11):c.*720C>T
|
rs770605810
|
0.00015
|
NM_002880.4(RAF1):c.*113T>G
|
rs886057914
|
0.00015
|
NM_006767.4(LZTR1):c.594-3C>T
|
rs373968693
|
0.00015
|
NM_152594.3(SPRED1):c.*3543C>T
|
rs1007271242
|
0.00015
|
NM_152594.3(SPRED1):c.376+3A>T
|
rs775985211
|
0.00015
|
NM_002524.5(NRAS):c.*344A>G
|
rs746680042
|
0.00014
|
NM_002880.4(RAF1):c.680+6T>C
|
rs371846795
|
0.00014
|
NM_005188.4(CBL):c.2513G>T (p.Gly838Val)
|
rs144191570
|
0.00014
|
NM_005633.4(SOS1):c.*1684G>C
|
rs886056012
|
0.00014
|
NM_006270.5(RRAS):c.344+6_344+7del
|
rs755223611
|
0.00014
|
NM_006270.5(RRAS):c.371C>T (p.Thr124Met)
|
rs369508242
|
0.00014
|
NM_006767.4(LZTR1):c.488C>T (p.Thr163Met)
|
rs200806641
|
0.00014
|
NM_030662.4(MAP2K2):c.784G>A (p.Val262Ile)
|
rs138873805
|
0.00014
|
NM_001042492.3(NF1):c.*3227A>G
|
rs1050612282
|
0.00013
|
NM_001042492.3(NF1):c.-237C>T
|
rs878967255
|
0.00013
|
NM_001042492.3(NF1):c.2032C>G (p.Pro678Ala)
|
rs758691069
|
0.00013
|
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=)
|
rs371581213
|
0.00013
|
NM_002524.5(NRAS):c.*2546C>T
|
rs778203603
|
0.00013
|
NM_002834.5(PTPN11):c.*2731G>A
|
rs768622106
|
0.00013
|
NM_005188.4(CBL):c.*4140G>A
|
rs886047791
|
0.00013
|
NM_005188.4(CBL):c.*5986T>C
|
rs764329156
|
0.00013
|
NM_005633.4(SOS1):c.1953A>G (p.Pro651=)
|
rs141507912
|
0.00013
|
NM_007373.4(SHOC2):c.-114C>G
|
rs1057217316
|
0.00013
|
NM_152594.3(SPRED1):c.*1747A>C
|
rs561525888
|
0.00013
|
NM_152594.3(SPRED1):c.938C>T (p.Thr313Met)
|
rs766814966
|
0.00013
|
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=)
|
rs140994965
|
0.00012
|
NM_002834.5(PTPN11):c.*50C>T
|
rs730880328
|
0.00012
|
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys)
|
rs370242565
|
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_007373.4(SHOC2):c.*979C>T
|
rs994617323
|
0.00012
|
NM_033360.4(KRAS):c.*1752A>G
|
rs763217196
|
0.00012
|
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys)
|
rs377662483
|
0.00011
|
NM_005188.4(CBL):c.2359C>T (p.Arg787Cys)
|
rs143132980
|
0.00011
|
NM_005633.4(SOS1):c.*664C>T
|
rs771800455
|
0.00011
|
NM_006270.5(RRAS):c.631G>A (p.Gly211Arg)
|
rs369588682
|
0.00011
|
NM_032322.4(RNF135):c.857G>A (p.Arg286His)
|
rs121918162
|
0.00011
|
NM_033360.4(KRAS):c.*4036A>G
|
rs886049179
|
0.00011
|
NM_152594.3(SPRED1):c.963G>A (p.Lys321=)
|
rs369711772
|
0.00011
|
NM_001042492.3(NF1):c.2178G>C (p.Val726=)
|
rs369590240
|
0.00010
|
NM_002880.4(RAF1):c.935T>C (p.Val312Ala)
|
rs370243307
|
0.00010
|
NM_005188.4(CBL):c.*4029C>T
|
rs563585627
|
0.00010
|
NM_005188.4(CBL):c.*4177C>T
|
rs886047792
|
0.00010
|
NM_005188.4(CBL):c.2312A>T (p.Asp771Val)
|
rs199788586
|
0.00010
|
NM_005633.4(SOS1):c.*223C>T
|
rs886056022
|
0.00010
|
NM_005633.4(SOS1):c.2165G>A (p.Arg722Lys)
|
rs142666652
|
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.1868G>A (p.Arg623His)
|
rs138459515
|
0.00010
|
NM_006939.4(SOS2):c.3289T>C (p.Ser1097Pro)
|
rs141214900
|
0.00010
|
NM_033360.4(KRAS):c.*2012T>C
|
rs886049190
|
0.00010
|
NM_144670.6(A2ML1):c.1417G>T (p.Asp473Tyr)
|
rs201950472
|
0.00010
|
NM_152594.3(SPRED1):c.*1897C>T
|
rs776375597
|
0.00010
|
NM_152594.3(SPRED1):c.*3657C>T
|
rs761527047
|
0.00010
|
NM_001042492.3(NF1):c.*160A>T
|
rs17882413
|
0.00009
|
NM_001042492.3(NF1):c.*3248G>A
|
rs527971565
|
0.00009
|
NM_001042492.3(NF1):c.4724+11A>G
|
rs368649260
|
0.00009
|
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)
|
rs368654378
|
0.00009
|
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=)
|
rs141077224
|
0.00009
|
NM_002524.5(NRAS):c.*2630G>A
|
rs886045102
|
0.00009
|
NM_002755.4(MAP2K1):c.1168G>A (p.Ala390Thr)
|
rs730880500
|
0.00009
|
NM_002834.5(PTPN11):c.*2493C>T
|
rs886048977
|
0.00009
|
NM_002834.5(PTPN11):c.*2928A>T
|
rs565075386
|
0.00009
|
NM_002834.5(PTPN11):c.*802G>A
|
rs753900307
|
0.00009
|
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=)
|
rs143238917
|
0.00009
|
NM_002880.4(RAF1):c.*627C>T
|
rs879160471
|
0.00009
|
NM_002880.4(RAF1):c.*630A>G
|
rs975583754
|
0.00009
|
NM_002880.4(RAF1):c.834+598G>A
|
rs375404697
|
0.00009
|
NM_005188.4(CBL):c.*4227C>T
|
rs750704582
|
0.00009
|
NM_005188.4(CBL):c.*8318C>T
|
rs942482775
|
0.00009
|
NM_005633.4(SOS1):c.*1641A>G
|
rs760193823
|
0.00009
|
NM_005633.4(SOS1):c.244A>G (p.Ile82Val)
|
rs397517157
|
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_006767.4(LZTR1):c.1943-256C>T
|
rs761685529
|
0.00009
|
NM_006767.4(LZTR1):c.2130C>T (p.Ile710=)
|
rs149449207
|
0.00009
|
NM_006912.6(RIT1):c.634C>T (p.Arg212Trp)
|
rs563231684
|
0.00009
|
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser)
|
rs561495878
|
0.00009
|
NM_006939.4(SOS2):c.721G>A (p.Glu241Lys)
|
rs148747022
|
0.00009
|
NM_007373.4(SHOC2):c.1477C>T (p.Leu493Phe)
|
rs1026930115
|
0.00009
|
NM_007373.4(SHOC2):c.1580A>G (p.Asn527Ser)
|
rs143242369
|
0.00009
|
NM_007373.4(SHOC2):c.355A>G (p.Ile119Val)
|
rs147068827
|
0.00009
|
NM_030662.4(MAP2K2):c.919+4C>T
|
rs763424788
|
0.00009
|
NM_152594.3(SPRED1):c.*3289C>T
|
rs867439626
|
0.00009
|
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe)
|
rs201824349
|
0.00008
|
NM_002880.4(RAF1):c.-264C>G
|
rs894363344
|
0.00008
|
NM_005188.4(CBL):c.*1059G>A
|
rs544728305
|
0.00008
|
NM_005188.4(CBL):c.*4849A>C
|
rs886047796
|
0.00008
|
NM_005633.4(SOS1):c.*1477G>A
|
rs1029291502
|
0.00008
|
NM_005633.4(SOS1):c.*421A>G
|
rs973373222
|
0.00008
|
NM_006767.4(LZTR1):c.1303C>T (p.Arg435Trp)
|
rs369722558
|
0.00008
|
NM_006767.4(LZTR1):c.2023G>A (p.Gly675Arg)
|
rs369362070
|
0.00008
|
NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly)
|
rs730881019
|
0.00008
|
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn)
|
rs150369301
|
0.00008
|
NM_033360.4(KRAS):c.*2577G>A
|
rs886049186
|
0.00008
|
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile)
|
rs147474792
|
0.00008
|
NM_001042492.3(NF1):c.1392+5G>T
|
rs199999754
|
0.00007
|
NM_001042492.3(NF1):c.1392+6A>T
|
rs200798969
|
0.00007
|
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile)
|
rs376655102
|
0.00007
|
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)
|
rs397516797
|
0.00007
|
NM_004333.6(BRAF):c.28G>A (p.Gly10Ser)
|
rs1356557681
|
0.00007
|
NM_005188.3(CBL):c.-124G>T
|
rs886047764
|
0.00007
|
NM_005188.4(CBL):c.*1164T>G
|
rs1190145121
|
0.00007
|
NM_005188.4(CBL):c.*5093C>G
|
rs757662885
|
0.00007
|
NM_005188.4(CBL):c.*5885A>G
|
rs148553071
|
0.00007
|
NM_005188.4(CBL):c.*6175A>G
|
rs775450592
|
0.00007
|
NM_005188.4(CBL):c.*986A>C
|
rs886047776
|
0.00007
|
NM_005343.4(HRAS):c.506G>A (p.Arg169Gln)
|
rs142218590
|
0.00007
|
NM_005633.4(SOS1):c.1829T>C (p.Ile610Thr)
|
rs776146535
|
0.00007
|
NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu)
|
rs730881034
|
0.00007
|
NM_006767.4(LZTR1):c.373G>A (p.Val125Ile)
|
rs775434314
|
0.00007
|
NM_006939.4(SOS2):c.2758A>G (p.Ile920Val)
|
rs755783805
|
0.00007
|
NM_001042492.3(NF1):c.*101T>C
|
rs962788938
|
0.00006
|
NM_001042492.3(NF1):c.*1A>C
|
rs876658388
|
0.00006
|
NM_001042492.3(NF1):c.3217A>G (p.Met1073Val)
|
rs199474740
|
0.00006
|
NM_001042492.3(NF1):c.7006G>A (p.Ala2336Thr)
|
rs587781428
|
0.00006
|
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile)
|
rs149055633
|
0.00006
|
NM_001042492.3(NF1):c.7870-8C>A
|
rs372441422
|
0.00006
|
NM_002524.5(NRAS):c.*2767C>T
|
rs766572336
|
0.00006
|
NM_002524.5(NRAS):c.*651C>T
|
rs754089086
|
0.00006
|
NM_002755.4(MAP2K1):c.*148_*149del
|
rs745540522
|
0.00006
|
NM_002755.4(MAP2K1):c.277G>A (p.Val93Ile)
|
rs151207265
|
0.00006
|
NM_002755.4(MAP2K1):c.56C>G (p.Ala19Gly)
|
rs727504413
|
0.00006
|
NM_002834.5(PTPN11):c.*3231T>G
|
rs769489372
|
0.00006
|
NM_002834.5(PTPN11):c.*64C>G
|
rs763895470
|
0.00006
|
NM_002834.5(PTPN11):c.*740C>T
|
rs886048969
|
0.00006
|
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu)
|
rs141140214
|
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_002880.4(RAF1):c.1107C>T (p.His369=)
|
rs761947194
|
0.00006
|
NM_002880.4(RAF1):c.1814C>T (p.Ser605Phe)
|
rs730881004
|
0.00006
|
NM_002880.4(RAF1):c.66T>G (p.Phe22Leu)
|
rs397516824
|
0.00006
|
NM_004333.6(BRAF):c.52C>G (p.Leu18Val)
|
rs1222192591
|
0.00006
|
NM_004333.6(BRAF):c.92C>G (p.Ala31Gly)
|
rs397516906
|
0.00006
|
NM_004985.5(KRAS):c.451-5560T>A
|
rs373169526
|
0.00006
|
NM_005188.4(CBL):c.*2105T>C
|
rs1051083897
|
0.00006
|
NM_005188.4(CBL):c.*6795A>G
|
rs185187005
|
0.00006
|
NM_005188.4(CBL):c.*6806T>C
|
rs776910322
|
0.00006
|
NM_005188.4(CBL):c.*932A>G
|
rs886047774
|
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.2262T>G (p.Asn754Lys)
|
rs148139669
|
0.00006
|
NM_005188.4(CBL):c.2461G>A (p.Glu821Lys)
|
rs759358775
|
0.00006
|
NM_005633.4(SOS1):c.1018C>T (p.Pro340Ser)
|
rs190222208
|
0.00006
|
NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala)
|
rs553805862
|
0.00006
|
NM_005633.4(SOS1):c.929G>A (p.Arg310His)
|
rs143481916
|
0.00006
|
NM_006270.5(RRAS):c.163G>A (p.Val55Met)
|
rs368625677
|
0.00006
|
NM_006270.5(RRAS):c.409G>A (p.Val137Ile)
|
rs757080959
|
0.00006
|
NM_006767.4(LZTR1):c.1055A>C (p.Tyr352Ser)
|
rs368649599
|
0.00006
|
NM_006767.4(LZTR1):c.2089C>T (p.Arg697Trp)
|
rs751516987
|
0.00006
|
NM_006939.4(SOS2):c.3868C>G (p.Pro1290Ala)
|
rs761580972
|
0.00006
|
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln)
|
rs780580623
|
0.00006
|
NM_007373.4(SHOC2):c.610A>G (p.Ile204Val)
|
rs200015085
|
0.00006
|
NM_030662.4(MAP2K2):c.1112G>A (p.Arg371Gln)
|
rs730880514
|
0.00006
|
NM_030662.4(MAP2K2):c.604G>A (p.Val202Met)
|
rs769471250
|
0.00006
|
NM_030662.4(MAP2K2):c.856G>A (p.Gly286Arg)
|
rs730880523
|
0.00006
|
NM_030662.4(MAP2K2):c.890G>A (p.Arg297Gln)
|
rs140111079
|
0.00006
|
NM_033360.4(KRAS):c.*1622G>A
|
rs886049194
|
0.00006
|
NM_033360.4(KRAS):c.*2605G>A
|
rs779071703
|
0.00006
|
NM_033360.4(KRAS):c.*2815C>T
|
rs886049185
|
0.00006
|
NM_033360.4(KRAS):c.*297C>T
|
rs886049197
|
0.00006
|
NM_152594.3(SPRED1):c.*1563C>T
|
rs886051110
|
0.00006
|
NM_152594.3(SPRED1):c.*3584G>A
|
rs886051117
|
0.00006
|
NM_152594.3(SPRED1):c.*5418A>G
|
rs547680341
|
0.00006
|
NM_152594.3(SPRED1):c.1105A>T (p.Met369Leu)
|
rs779660163
|
0.00006
|
NM_152594.3(SPRED1):c.1273A>G (p.Met425Val)
|
rs368307475
|
0.00006
|
NM_152594.3(SPRED1):c.1283G>A (p.Arg428His)
|
rs369492789
|
0.00006
|
NM_152594.3(SPRED1):c.1289G>C (p.Gly430Ala)
|
rs749389617
|
0.00006
|
NM_152594.3(SPRED1):c.640C>T (p.Arg214Trp)
|
rs376699107
|
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.4207G>A (p.Gly1403Ser)
|
rs138227618
|
0.00005
|
NM_002524.5(NRAS):c.*3062C>T
|
rs886045098
|
0.00005
|
NM_002834.5(PTPN11):c.990A>C (p.Thr330=)
|
rs369739920
|
0.00005
|
NM_002880.4(RAF1):c.-53G>A
|
rs985291322
|
0.00005
|
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val)
|
rs201481342
|
0.00005
|
NM_004333.6(BRAF):c.1992+8T>C
|
rs753545284
|
0.00005
|
NM_004333.6(BRAF):c.2196C>G (p.Ser732=)
|
rs142592480
|
0.00005
|
NM_004333.6(BRAF):c.72G>C (p.Glu24Asp)
|
rs587778114
|
0.00005
|
NM_005188.4(CBL):c.*282C>G
|
rs886047773
|
0.00005
|
NM_005188.4(CBL):c.*4959C>T
|
rs886047797
|
0.00005
|
NM_005188.4(CBL):c.*6099A>G
|
rs575606651
|
0.00005
|
NM_005188.4(CBL):c.1095+3G>A
|
rs373738394
|
0.00005
|
NM_005188.4(CBL):c.1723A>G (p.Arg575Gly)
|
rs374515645
|
0.00005
|
NM_005188.4(CBL):c.2520T>G (p.Cys840Trp)
|
rs112330156
|
0.00005
|
NM_005343.4(HRAS):c.508A>T (p.Lys170Ter)
|
rs372936166
|
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_006767.4(LZTR1):c.2260A>C (p.Asn754His)
|
rs745755957
|
0.00005
|
NM_006767.4(LZTR1):c.710G>A (p.Arg237Gln)
|
rs773696598
|
0.00005
|
NM_006767.4(LZTR1):c.988A>G (p.Ser330Gly)
|
rs777443417
|
0.00005
|
NM_006939.4(SOS2):c.244A>G (p.Ile82Val)
|
rs545263131
|
0.00005
|
NM_006939.4(SOS2):c.2606T>C (p.Val869Ala)
|
rs750095346
|
0.00005
|
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu)
|
rs202220799
|
0.00005
|
NM_030662.4(MAP2K2):c.536G>A (p.Arg179Gln)
|
rs776316565
|
0.00005
|
NM_033360.4(KRAS):c.*2391_*2392insC
|
rs886049188
|
0.00005
|
NM_152594.3(SPRED1):c.-24A>G
|
rs755230054
|
0.00005
|
NM_152594.3(SPRED1):c.1006G>A (p.Val336Ile)
|
rs373477920
|
0.00005
|
NM_001042492.3(NF1):c.*1202A>C
|
rs886052807
|
0.00004
|
NM_001042492.3(NF1):c.*2071G>A
|
rs886052811
|
0.00004
|
NM_001042492.3(NF1):c.181A>G (p.Ile61Val)
|
rs754295034
|
0.00004
|
NM_001042492.3(NF1):c.231A>T (p.Lys77Asn)
|
rs373563053
|
0.00004
|
NM_001042492.3(NF1):c.3358G>C (p.Val1120Leu)
|
rs200594167
|
0.00004
|
NM_001042492.3(NF1):c.3371G>A (p.Ser1124Asn)
|
rs374472758
|
0.00004
|
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)
|
rs143836226
|
0.00004
|
NM_001042492.3(NF1):c.3947A>G (p.His1316Arg)
|
rs751023085
|
0.00004
|
NM_001042492.3(NF1):c.4111-4G>A
|
rs764877783
|
0.00004
|
NM_001042492.3(NF1):c.4445T>C (p.Ile1482Thr)
|
rs746994734
|
0.00004
|
NM_001042492.3(NF1):c.5255A>G (p.Lys1752Arg)
|
rs864622373
|
0.00004
|
NM_001042492.3(NF1):c.5257G>A (p.Val1753Ile)
|
rs148540952
|
0.00004
|
NM_001042492.3(NF1):c.7046G>A (p.Arg2349His)
|
rs864622065
|
0.00004
|
NM_001042492.3(NF1):c.7528A>G (p.Thr2510Ala)
|
rs145794301
|
0.00004
|
NM_001042492.3(NF1):c.8490C>A (p.Phe2830Leu)
|
rs760550772
|
0.00004
|
NM_002524.5(NRAS):c.*1629C>G
|
rs776223586
|
0.00004
|
NM_002755.4(MAP2K1):c.198C>T (p.Asp66=)
|
rs56200325
|
0.00004
|
NM_002834.5(PTPN11):c.1143C>T (p.Gly381=)
|
rs781677115
|
0.00004
|
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser)
|
rs572274623
|
0.00004
|
NM_002880.3(RAF1):c.-354C>G
|
rs964288487
|
0.00004
|
NM_002880.4(RAF1):c.*643C>G
|
rs932173134
|
0.00004
|
NM_002880.4(RAF1):c.1663G>C (p.Asp555His)
|
rs371704292
|
0.00004
|
NM_002880.4(RAF1):c.1913C>T (p.Thr638Met)
|
rs730881007
|
0.00004
|
NM_004333.6(BRAF):c.1180T>C (p.Ser394Pro)
|
rs923739321
|
0.00004
|
NM_004333.6(BRAF):c.1667T>C (p.Ile556Thr)
|
rs760524720
|
0.00004
|
NM_004333.6(BRAF):c.995C>T (p.Thr332Ile)
|
rs1008080053
|
0.00004
|
NM_005188.4(CBL):c.*1252G>A
|
rs961476506
|
0.00004
|
NM_005188.4(CBL):c.*1884C>T
|
rs772494648
|
0.00004
|
NM_005188.4(CBL):c.*3437C>T
|
rs774175986
|
0.00004
|
NM_005188.4(CBL):c.*3622T>C
|
rs1023495416
|
0.00004
|
NM_005188.4(CBL):c.*3714C>T
|
rs886047790
|
0.00004
|
NM_005188.4(CBL):c.*3978G>C
|
rs752715099
|
0.00004
|
NM_005188.4(CBL):c.*6528T>C
|
rs1027364028
|
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.1511C>T (p.Pro504Leu)
|
rs533554769
|
0.00004
|
NM_005188.4(CBL):c.1648C>T (p.Arg550Trp)
|
rs202065722
|
0.00004
|
NM_005188.4(CBL):c.195+3G>A
|
rs762062705
|
0.00004
|
NM_005188.4(CBL):c.2083G>A (p.Glu695Lys)
|
rs143975631
|
0.00004
|
NM_005188.4(CBL):c.2486G>A (p.Arg829Gln)
|
rs374672276
|
0.00004
|
NM_005188.4(CBL):c.2614C>A (p.Gln872Lys)
|
rs746795014
|
0.00004
|
NM_005188.4(CBL):c.2677C>T (p.Arg893Trp)
|
rs368138875
|
0.00004
|
NM_005188.4(CBL):c.819G>A (p.Thr273=)
|
rs750907780
|
0.00004
|
NM_005343.4(HRAS):c.368G>C (p.Arg123Pro)
|
rs730880464
|
0.00004
|
NM_005343.4(HRAS):c.36C>T (p.Gly12=)
|
rs727504424
|
0.00004
|
NM_005633.4(SOS1):c.*2056A>C
|
rs532255169
|
0.00004
|
NM_005633.4(SOS1):c.*2503_*2506dup
|
rs886056007
|
0.00004
|
NM_005633.4(SOS1):c.*2662G>A
|
rs141841546
|
0.00004
|
NM_005633.4(SOS1):c.*873C>T
|
rs961299565
|
0.00004
|
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln)
|
rs371314838
|
0.00004
|
NM_005633.4(SOS1):c.1720G>A (p.Val574Ile)
|
rs727504641
|
0.00004
|
NM_005633.4(SOS1):c.1859-3T>C
|
rs199727062
|
0.00004
|
NM_005633.4(SOS1):c.2571G>C (p.Glu857Asp)
|
rs757460662
|
0.00004
|
NM_005633.4(SOS1):c.2587C>A (p.Gln863Lys)
|
rs141501083
|
0.00004
|
NM_005633.4(SOS1):c.3392G>A (p.Arg1131Lys)
|
rs768113420
|
0.00004
|
NM_005633.4(SOS1):c.3737A>G (p.Asn1246Ser)
|
rs374110460
|
0.00004
|
NM_005633.4(SOS1):c.382G>A (p.Val128Ile)
|
rs752402979
|
0.00004
|
NM_005633.4(SOS1):c.3857C>T (p.Ser1286Phe)
|
rs374341202
|
0.00004
|
NM_006270.5(RRAS):c.38G>A (p.Arg13Gln)
|
rs764597042
|
0.00004
|
NM_006270.5(RRAS):c.400G>A (p.Asp134Asn)
|
rs374650566
|
0.00004
|
NM_006270.5(RRAS):c.453+5G>A
|
rs766707816
|
0.00004
|
NM_006270.5(RRAS):c.481G>A (p.Gly161Ser)
|
rs758697481
|
0.00004
|
NM_006270.5(RRAS):c.598C>T (p.Pro200Ser)
|
rs548040971
|
0.00004
|
NM_006270.5(RRAS):c.646G>A (p.Val216Ile)
|
rs748655822
|
0.00004
|
NM_006767.4(LZTR1):c.1942+3A>G
|
rs763690028
|
0.00004
|
NM_006767.4(LZTR1):c.1978G>A (p.Glu660Lys)
|
rs151000791
|
0.00004
|
NM_006767.4(LZTR1):c.946G>A (p.Val316Met)
|
rs370315661
|
0.00004
|
NM_006912.6(RIT1):c.341T>A (p.Phe114Tyr)
|
rs745807905
|
0.00004
|
NM_006912.6(RIT1):c.635G>A (p.Arg212Gln)
|
rs764347644
|
0.00004
|
NM_006939.4(SOS2):c.1976T>C (p.Leu659Ser)
|
rs1391029692
|
0.00004
|
NM_006939.4(SOS2):c.257C>T (p.Ala86Val)
|
rs146272145
|
0.00004
|
NM_006939.4(SOS2):c.3076C>T (p.Pro1026Ser)
|
rs201874067
|
0.00004
|
NM_006939.4(SOS2):c.3335G>A (p.Cys1112Tyr)
|
rs756103351
|
0.00004
|
NM_006939.4(SOS2):c.3520G>A (p.Ala1174Thr)
|
rs935249167
|
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.532C>G (p.Gln178Glu)
|
rs770603835
|
0.00004
|
NM_006939.4(SOS2):c.811A>G (p.Ser271Gly)
|
rs775494170
|
0.00004
|
NM_007373.4(SHOC2):c.*1324G>A
|
rs559572636
|
0.00004
|
NM_007373.4(SHOC2):c.*614T>G
|
rs886046732
|
0.00004
|
NM_007373.4(SHOC2):c.1318C>A (p.Leu440Ile)
|
rs759910472
|
0.00004
|
NM_030662.4(MAP2K2):c.1005C>T (p.Asn335=)
|
rs587781028
|
0.00004
|
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met)
|
rs117945277
|
0.00004
|
NM_030662.4(MAP2K2):c.274A>G (p.Arg92Gly)
|
rs759061964
|
0.00004
|
NM_030662.4(MAP2K2):c.289A>T (p.Ile97Phe)
|
rs373579939
|
0.00004
|
NM_030662.4(MAP2K2):c.743C>T (p.Ser248Leu)
|
rs761669626
|
0.00004
|
NM_030662.4(MAP2K2):c.841C>T (p.Arg281Trp)
|
rs759998177
|
0.00004
|
NM_030662.4(MAP2K2):c.889C>T (p.Arg297Trp)
|
rs562352756
|
0.00004
|
NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln)
|
rs151133017
|
0.00004
|
NM_033360.4(KRAS):c.*2446G>A
|
rs886049187
|
0.00004
|
NM_033360.4(KRAS):c.*3620C>T
|
rs886049181
|
0.00004
|
NM_152594.3(SPRED1):c.*2117A>G
|
rs1037098024
|
0.00004
|
NM_152594.3(SPRED1):c.1295C>T (p.Ala432Val)
|
rs200871227
|
0.00004
|
NM_152594.3(SPRED1):c.645A>C (p.Gln215His)
|
rs144227155
|
0.00004
|
NM_152594.3(SPRED1):c.842A>G (p.Gln281Arg)
|
rs1427402192
|
0.00004
|
NM_001042492.3(NF1):c.*2073T>C
|
rs139460673
|
0.00003
|
NM_001042492.3(NF1):c.*506T>A
|
rs886052804
|
0.00003
|
NM_001042492.3(NF1):c.-209C>A
|
rs886052790
|
0.00003
|
NM_001042492.3(NF1):c.100G>A (p.Val34Ile)
|
rs772995929
|
0.00003
|
NM_001042492.3(NF1):c.1308G>A (p.Ser436=)
|
rs765425127
|
0.00003
|
NM_001042492.3(NF1):c.134A>G (p.Asn45Ser)
|
rs753189381
|
0.00003
|
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser)
|
rs779727341
|
0.00003
|
NM_001042492.3(NF1):c.178A>G (p.Thr60Ala)
|
rs546729596
|
0.00003
|
NM_001042492.3(NF1):c.1975C>T (p.Arg659Trp)
|
rs757512142
|
0.00003
|
NM_001042492.3(NF1):c.2570A>G (p.Asn857Ser)
|
rs1060500299
|
0.00003
|
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser)
|
rs200302954
|
0.00003
|
NM_001042492.3(NF1):c.2747A>G (p.Asn916Ser)
|
rs765043916
|
0.00003
|
NM_001042492.3(NF1):c.2821A>G (p.Ile941Val)
|
rs876659888
|
0.00003
|
NM_001042492.3(NF1):c.2856A>C (p.Leu952Phe)
|
rs750488772
|
0.00003
|
NM_001042492.3(NF1):c.2999G>A (p.Arg1000His)
|
rs753082620
|
0.00003
|
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser)
|
rs146641724
|
0.00003
|
NM_001042492.3(NF1):c.4185G>T (p.Gln1395His)
|
rs775206746
|
0.00003
|
NM_001042492.3(NF1):c.4835+5G>C
|
rs786201306
|
0.00003
|
NM_001042492.3(NF1):c.6082G>A (p.Ala2028Thr)
|
rs767869530
|
0.00003
|
NM_001042492.3(NF1):c.67A>G (p.Ile23Val)
|
rs542824372
|
0.00003
|
NM_001042492.3(NF1):c.7003A>G (p.Thr2335Ala)
|
rs370209920
|
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.8479G>T (p.Ala2827Ser)
|
rs199878086
|
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.1034A>G (p.Asn345Ser)
|
rs760766158
|
0.00003
|
NM_002755.4(MAP2K1):c.875C>T (p.Thr292Ile)
|
rs397516794
|
0.00003
|
NM_002755.4(MAP2K1):c.901G>A (p.Gly301Arg)
|
rs773890369
|
0.00003
|
NM_002834.5(PTPN11):c.*3720T>C
|
rs886048981
|
0.00003
|
NM_002834.5(PTPN11):c.1174G>A (p.Ala392Thr)
|
rs774356443
|
0.00003
|
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met)
|
rs397507536
|
0.00003
|
NM_002834.5(PTPN11):c.1327C>T (p.His443Tyr)
|
rs779236638
|
0.00003
|
NM_002834.5(PTPN11):c.1379+6A>G
|
rs746958309
|
0.00003
|
NM_002834.5(PTPN11):c.1642T>C (p.Ser548Pro)
|
rs1057517907
|
0.00003
|
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp)
|
rs143433437
|
0.00003
|
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr)
|
rs727503381
|
0.00003
|
NM_002834.5(PTPN11):c.824A>C (p.Asn275Thr)
|
rs397507528
|
0.00003
|
NM_002880.4(RAF1):c.-110G>A
|
rs886057917
|
0.00003
|
NM_002880.4(RAF1):c.1879C>T (p.Arg627Trp)
|
rs730881005
|
0.00003
|
NM_002880.4(RAF1):c.1921A>G (p.Thr641Ala)
|
rs1183812590
|
0.00003
|
NM_002880.4(RAF1):c.428G>A (p.Arg143Gln)
|
rs750697353
|
0.00003
|
NM_002880.4(RAF1):c.53A>G (p.Lys18Arg)
|
rs150944421
|
0.00003
|
NM_002880.4(RAF1):c.600T>C (p.Thr200=)
|
rs779808613
|
0.00003
|
NM_004333.6(BRAF):c.1068A>G (p.Gln356=)
|
rs143335467
|
0.00003
|
NM_004333.6(BRAF):c.1694+14G>A
|
rs184144181
|
0.00003
|
NM_004333.6(BRAF):c.2140A>G (p.Ile714Val)
|
rs555976452
|
0.00003
|
NM_004333.6(BRAF):c.622A>G (p.Ile208Val)
|
rs727504571
|
0.00003
|
NM_004333.6(BRAF):c.708C>T (p.Asn236=)
|
rs138333692
|
0.00003
|
NM_004333.6(BRAF):c.977T>C (p.Ile326Thr)
|
rs368435578
|
0.00003
|
NM_005188.4(CBL):c.*1487A>G
|
rs780157945
|
0.00003
|
NM_005188.4(CBL):c.*1581G>A
|
rs985042927
|
0.00003
|
NM_005188.4(CBL):c.*1965G>A
|
rs886047781
|
0.00003
|
NM_005188.4(CBL):c.*2554G>C
|
rs886047784
|
0.00003
|
NM_005188.4(CBL):c.*5618G>A
|
rs936515006
|
0.00003
|
NM_005188.4(CBL):c.*6980T>C
|
rs886047808
|
0.00003
|
NM_005188.4(CBL):c.*7167A>C
|
rs886047812
|
0.00003
|
NM_005188.4(CBL):c.-79C>T
|
rs886047767
|
0.00003
|
NM_005188.4(CBL):c.1484C>T (p.Pro495Leu)
|
rs373989524
|
0.00003
|
NM_005188.4(CBL):c.1676G>T (p.Arg559Leu)
|
rs143034856
|
0.00003
|
NM_005188.4(CBL):c.1703C>T (p.Thr568Ile)
|
rs762016318
|
0.00003
|
NM_005188.4(CBL):c.1776C>T (p.Pro592=)
|
rs886047769
|
0.00003
|
NM_005188.4(CBL):c.869+15G>A
|
rs761328610
|
0.00003
|
NM_005343.4(HRAS):c.280C>T (p.His94Tyr)
|
rs144718261
|
0.00003
|
NM_005343.4(HRAS):c.376G>C (p.Glu126Gln)
|
rs763754805
|
0.00003
|
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser)
|
rs397517142
|
0.00003
|
NM_005343.4(HRAS):c.505C>T (p.Arg169Trp)
|
rs151229168
|
0.00003
|
NM_005633.4(SOS1):c.*1270T>C
|
rs1019150969
|
0.00003
|
NM_005633.4(SOS1):c.*3727G>C
|
rs886056004
|
0.00003
|
NM_005633.4(SOS1):c.1523A>G (p.Asn508Ser)
|
rs751404198
|
0.00003
|
NM_005633.4(SOS1):c.1558G>A (p.Asp520Asn)
|
rs754115060
|
0.00003
|
NM_005633.4(SOS1):c.1672A>G (p.Met558Val)
|
rs371295853
|
0.00003
|
NM_005633.4(SOS1):c.1988T>C (p.Ile663Thr)
|
rs1048869073
|
0.00003
|
NM_005633.4(SOS1):c.2987C>T (p.Pro996Leu)
|
rs200747626
|
0.00003
|
NM_005633.4(SOS1):c.3697C>A (p.Leu1233Ile)
|
rs777373438
|
0.00003
|
NM_005633.4(SOS1):c.3703C>T (p.Pro1235Ser)
|
rs397517168
|
0.00003
|
NM_005633.4(SOS1):c.3806C>G (p.Thr1269Arg)
|
rs370528448
|
0.00003
|
NM_005633.4(SOS1):c.599C>G (p.Thr200Ser)
|
rs143007609
|
0.00003
|
NM_005633.4(SOS1):c.890C>T (p.Ser297Leu)
|
rs779162761
|
0.00003
|
NM_006270.5(RRAS):c.175G>C (p.Asp59His)
|
rs775437600
|
0.00003
|
NM_006270.5(RRAS):c.307G>A (p.Gly103Ser)
|
rs745911237
|
0.00003
|
NM_006270.5(RRAS):c.352G>A (p.Glu118Lys)
|
rs533583599
|
0.00003
|
NM_006270.5(RRAS):c.461G>A (p.Arg154Gln)
|
rs1039650903
|
0.00003
|
NM_006270.5(RRAS):c.649C>G (p.Leu217Val)
|
rs988964363
|
0.00003
|
NM_006270.5(RRAS):c.64G>T (p.Gly22Trp)
|
rs754976061
|
0.00003
|
NM_006767.4(LZTR1):c.1385T>C (p.Ile462Thr)
|
rs147684991
|
0.00003
|
NM_006767.4(LZTR1):c.508C>T (p.Arg170Trp)
|
rs757502214
|
0.00003
|
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu)
|
rs1390048261
|
0.00003
|
NM_006912.6(RIT1):c.45C>G (p.Pro15=)
|
rs748838734
|
0.00003
|
NM_006912.6(RIT1):c.506A>G (p.Tyr169Cys)
|
rs763208084
|
0.00003
|
NM_006939.4(SOS2):c.1264G>A (p.Glu422Lys)
|
rs375244948
|
0.00003
|
NM_006939.4(SOS2):c.1282G>A (p.Asp428Asn)
|
rs146283711
|
0.00003
|
NM_006939.4(SOS2):c.1417C>T (p.His473Tyr)
|
rs756637706
|
0.00003
|
NM_006939.4(SOS2):c.260T>C (p.Ile87Thr)
|
rs747274422
|
0.00003
|
NM_006939.4(SOS2):c.3490-3G>T
|
rs1399710421
|
0.00003
|
NM_006939.4(SOS2):c.3497T>C (p.Met1166Thr)
|
rs764483791
|
0.00003
|
NM_006939.4(SOS2):c.3814C>T (p.Arg1272Cys)
|
rs1005498417
|
0.00003
|
NM_007373.4(SHOC2):c.-1C>T
|
rs398124252
|
0.00003
|
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe)
|
rs536611911
|
0.00003
|
NM_030662.4(MAP2K2):c.1176C>T (p.Pro392=)
|
rs529064753
|
0.00003
|
NM_030662.4(MAP2K2):c.1190G>A (p.Arg397His)
|
rs751040819
|
0.00003
|
NM_030662.4(MAP2K2):c.217G>A (p.Glu73Lys)
|
rs187018595
|
0.00003
|
NM_030662.4(MAP2K2):c.391G>A (p.Val131Met)
|
rs397517413
|
0.00003
|
NM_030662.4(MAP2K2):c.527C>T (p.Ala176Val)
|
rs775661458
|
0.00003
|
NM_030662.4(MAP2K2):c.554G>A (p.Arg185Gln)
|
rs772139417
|
0.00003
|
NM_030662.4(MAP2K2):c.581-3C>T
|
rs754233409
|
0.00003
|
NM_030662.4(MAP2K2):c.884C>T (p.Ser295Leu)
|
rs531584619
|
0.00003
|
NM_030662.4(MAP2K2):c.918C>T (p.Ser306=)
|
rs777196833
|
0.00003
|
NM_032322.4(RNF135):c.727C>T (p.Gln243Ter)
|
rs121918161
|
0.00003
|
NM_152594.3(SPRED1):c.*2853A>G
|
rs187134665
|
0.00003
|
NM_152594.3(SPRED1):c.*4046G>A
|
rs886051118
|
0.00003
|
NM_152594.3(SPRED1):c.-2A>T
|
rs773950720
|
0.00003
|
NM_152594.3(SPRED1):c.1202G>T (p.Cys401Phe)
|
rs779058019
|
0.00003
|
NM_152594.3(SPRED1):c.163T>C (p.Cys55Arg)
|
rs775334473
|
0.00003
|
NM_152594.3(SPRED1):c.181C>T (p.Arg61Cys)
|
rs765788978
|
0.00003
|
NM_152594.3(SPRED1):c.306G>A (p.Thr102=)
|
rs372791883
|
0.00003
|
NM_152594.3(SPRED1):c.371C>T (p.Ser124Phe)
|
rs760132893
|
0.00003
|
NM_152594.3(SPRED1):c.385G>A (p.Glu129Lys)
|
rs764823722
|
0.00003
|
NM_152594.3(SPRED1):c.401C>G (p.Ala134Gly)
|
rs762633609
|
0.00003
|
NM_152594.3(SPRED1):c.42T>C (p.Tyr14=)
|
rs764234046
|
0.00003
|
NM_152594.3(SPRED1):c.864A>C (p.Lys288Asn)
|
rs777379558
|
0.00003
|
NM_152594.3(SPRED1):c.866A>C (p.Lys289Thr)
|
rs372665535
|
0.00003
|
NM_001042492.3(NF1):c.*194A>C
|
rs1445645953
|
0.00002
|
NM_001042492.3(NF1):c.*2540T>G
|
rs896039933
|
0.00002
|
NM_001042492.3(NF1):c.-251C>T
|
rs1463146814
|
0.00002
|
NM_001042492.3(NF1):c.-51C>T
|
rs964223360
|
0.00002
|
NM_001042492.3(NF1):c.1213A>G (p.Thr405Ala)
|
rs587782233
|
0.00002
|
NM_001042492.3(NF1):c.1223A>G (p.Tyr408Cys)
|
rs876660344
|
0.00002
|
NM_001042492.3(NF1):c.1247G>A (p.Arg416Gln)
|
rs1343309278
|
0.00002
|
NM_001042492.3(NF1):c.145T>A (p.Tyr49Asn)
|
rs764367878
|
0.00002
|
NM_001042492.3(NF1):c.1620G>T (p.Glu540Asp)
|
rs766748586
|
0.00002
|
NM_001042492.3(NF1):c.1955G>A (p.Arg652His)
|
rs587778549
|
0.00002
|
NM_001042492.3(NF1):c.2023G>A (p.Gly675Arg)
|
rs779546178
|
0.00002
|
NM_001042492.3(NF1):c.212T>C (p.Phe71Ser)
|
rs752396270
|
0.00002
|
NM_001042492.3(NF1):c.2282C>T (p.Ala761Val)
|
rs746850653
|
0.00002
|
NM_001042492.3(NF1):c.2294G>A (p.Arg765His)
|
rs199474777
|
0.00002
|
NM_001042492.3(NF1):c.2458G>A (p.Val820Met)
|
rs761408020
|
0.00002
|
NM_001042492.3(NF1):c.2617C>T (p.Arg873Cys)
|
rs199474739
|
0.00002
|
NM_001042492.3(NF1):c.2819C>G (p.Thr940Ser)
|
rs368995630
|
0.00002
|
NM_001042492.3(NF1):c.2843A>G (p.Gln948Arg)
|
rs746384536
|
0.00002
|
NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val)
|
rs902739109
|
0.00002
|
NM_001042492.3(NF1):c.367A>G (p.Thr123Ala)
|
rs587781757
|
0.00002
|
NM_001042492.3(NF1):c.3970A>G (p.Thr1324Ala)
|
rs189522993
|
0.00002
|
NM_001042492.3(NF1):c.4009C>T (p.Arg1337Trp)
|
rs146306756
|
0.00002
|
NM_001042492.3(NF1):c.4110+4T>C
|
rs587781700
|
0.00002
|
NM_001042492.3(NF1):c.4262C>T (p.Pro1421Leu)
|
rs753997885
|
0.00002
|
NM_001042492.3(NF1):c.4285A>G (p.Lys1429Glu)
|
rs758915600
|
0.00002
|
NM_001042492.3(NF1):c.4286A>G (p.Lys1429Arg)
|
rs778056258
|
0.00002
|
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)
|
rs137854550
|
0.00002
|
NM_001042492.3(NF1):c.4357G>A (p.Val1453Ile)
|
rs199474755
|
0.00002
|
NM_001042492.3(NF1):c.4426C>T (p.Arg1476Cys)
|
rs771420960
|
0.00002
|
NM_001042492.3(NF1):c.4657C>G (p.Pro1553Ala)
|
rs1033427343
|
0.00002
|
NM_001042492.3(NF1):c.4958G>A (p.Arg1653His)
|
rs763413441
|
0.00002
|
NM_001042492.3(NF1):c.512A>G (p.Asn171Ser)
|
rs767500770
|
0.00002
|
NM_001042492.3(NF1):c.5225A>G (p.Asn1742Ser)
|
rs745407845
|
0.00002
|
NM_001042492.3(NF1):c.5263A>G (p.Ile1755Val)
|
rs370181275
|
0.00002
|
NM_001042492.3(NF1):c.5289A>G (p.Gln1763=)
|
rs199703296
|
0.00002
|
NM_001042492.3(NF1):c.529A>G (p.Ile177Val)
|
rs766213678
|
0.00002
|
NM_001042492.3(NF1):c.5381T>C (p.Val1794Ala)
|
rs142867979
|
0.00002
|
NM_001042492.3(NF1):c.5423C>T (p.Thr1808Met)
|
rs760649828
|
0.00002
|
NM_001042492.3(NF1):c.5470A>G (p.Ile1824Val)
|
rs370858405
|
0.00002
|
NM_001042492.3(NF1):c.5680G>C (p.Glu1894Gln)
|
rs774893767
|
0.00002
|
NM_001042492.3(NF1):c.623C>T (p.Ala208Val)
|
rs758624540
|
0.00002
|
NM_001042492.3(NF1):c.6851C>T (p.Thr2284Ile)
|
rs747881072
|
0.00002
|
NM_001042492.3(NF1):c.7055A>G (p.Asn2352Ser)
|
rs763082717
|
0.00002
|
NM_001042492.3(NF1):c.7457+8G>T
|
rs376147282
|
0.00002
|
NM_001042492.3(NF1):c.7484C>T (p.Ser2495Phe)
|
rs757245615
|
0.00002
|
NM_001042492.3(NF1):c.7523A>G (p.Tyr2508Cys)
|
rs762169098
|
0.00002
|
NM_001042492.3(NF1):c.7838C>T (p.Pro2613Leu)
|
rs750972729
|
0.00002
|
NM_001042492.3(NF1):c.7869+6G>A
|
rs864622318
|
0.00002
|
NM_001042492.3(NF1):c.8073T>G (p.His2691Gln)
|
rs375468032
|
0.00002
|
NM_001042492.3(NF1):c.8456G>A (p.Ser2819Asn)
|
rs934837854
|
0.00002
|
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr)
|
rs200572531
|
0.00002
|
NM_001042492.3(NF1):c.8494C>T (p.Arg2832Cys)
|
rs587782893
|
0.00002
|
NM_002524.4(NRAS):c.-179G>C
|
rs886045110
|
0.00002
|
NM_002524.5(NRAS):c.*1509A>G
|
rs141713248
|
0.00002
|
NM_002524.5(NRAS):c.*1914A>G
|
rs967317719
|
0.00002
|
NM_002755.4(MAP2K1):c.1062A>C (p.Gln354His)
|
rs750035241
|
0.00002
|
NM_002755.4(MAP2K1):c.1135A>G (p.Ile379Val)
|
rs373794940
|
0.00002
|
NM_002755.4(MAP2K1):c.1138G>A (p.Gly380Ser)
|
rs750934083
|
0.00002
|
NM_002755.4(MAP2K1):c.1177G>A (p.Val393Ile)
|
rs200442489
|
0.00002
|
NM_002834.3(PTPN11):c.-245C>G
|
rs886048963
|
0.00002
|
NM_002834.5(PTPN11):c.*1588C>G
|
rs886048974
|
0.00002
|
NM_002834.5(PTPN11):c.*1616C>T
|
rs1340461859
|
0.00002
|
NM_002834.5(PTPN11):c.*1830G>A
|
rs1399608679
|
0.00002
|
NM_002834.5(PTPN11):c.*2608C>T
|
rs1009588224
|
0.00002
|
NM_002834.5(PTPN11):c.1041A>G (p.Gln347=)
|
rs766297596
|
0.00002
|
NM_002834.5(PTPN11):c.1162G>A (p.Val388Ile)
|
rs749523268
|
0.00002
|
NM_002834.5(PTPN11):c.1190C>T (p.Thr397Met)
|
rs767503386
|
0.00002
|
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala)
|
rs201247699
|
0.00002
|
NM_002834.5(PTPN11):c.1345A>G (p.Ile449Val)
|
rs746112827
|
0.00002
|
NM_002834.5(PTPN11):c.1468G>A (p.Val490Ile)
|
rs781083623
|
0.00002
|
NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys)
|
rs587778634
|
0.00002
|
NM_002834.5(PTPN11):c.1649C>T (p.Ala550Val)
|
rs767712281
|
0.00002
|
NM_002834.5(PTPN11):c.455G>A (p.Arg152His)
|
rs397507521
|
0.00002
|
NM_002834.5(PTPN11):c.461G>C (p.Gly154Ala)
|
rs376027245
|
0.00002
|
NM_002834.5(PTPN11):c.487G>A (p.Gly163Ser)
|
rs730880992
|
0.00002
|
NM_002880.4(RAF1):c.*647G>T
|
rs1457071879
|
0.00002
|
NM_002880.4(RAF1):c.*706C>T
|
rs1466261579
|
0.00002
|
NM_002880.4(RAF1):c.293T>C (p.Val98Ala)
|
rs763559779
|
0.00002
|
NM_002880.4(RAF1):c.313C>G (p.His105Asp)
|
rs397516818
|
0.00002
|
NM_002880.4(RAF1):c.622G>C (p.Ala208Pro)
|
rs767628398
|
0.00002
|
NM_002880.4(RAF1):c.793A>G (p.Met265Val)
|
rs533494009
|
0.00002
|
NM_002880.4(RAF1):c.819C>G (p.Asp273Glu)
|
rs771675427
|
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.952C>T (p.Arg318Trp)
|
rs759433668
|
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.1144T>A (p.Leu382Met)
|
rs147732750
|
0.00002
|
NM_004333.6(BRAF):c.1165C>T (p.Arg389Cys)
|
rs397507472
|
0.00002
|
NM_004333.6(BRAF):c.240+6C>T
|
rs1320075163
|
0.00002
|
NM_004333.6(BRAF):c.61G>C (p.Gly21Arg)
|
rs587778113
|
0.00002
|
NM_004985.5(KRAS):c.491G>A (p.Arg164Gln)
|
rs372793780
|
0.00002
|
NM_005188.4(CBL):c.*2174G>A
|
rs938383932
|
0.00002
|
NM_005188.4(CBL):c.*4542C>T
|
rs1433663090
|
0.00002
|
NM_005188.4(CBL):c.*5139C>T
|
rs886047799
|
0.00002
|
NM_005188.4(CBL):c.*6126T>A
|
rs886047803
|
0.00002
|
NM_005188.4(CBL):c.1211G>A (p.Cys404Tyr)
|
rs192712314
|
0.00002
|
NM_005188.4(CBL):c.1394A>T (p.Asp465Val)
|
rs770644035
|
0.00002
|
NM_005188.4(CBL):c.1463C>T (p.Ala488Val)
|
rs377502790
|
0.00002
|
NM_005188.4(CBL):c.1468C>G (p.Gln490Glu)
|
rs1368426444
|
0.00002
|
NM_005188.4(CBL):c.1651C>T (p.Pro551Ser)
|
rs200305176
|
0.00002
|
NM_005188.4(CBL):c.1783A>G (p.Ile595Val)
|
rs775675805
|
0.00002
|
NM_005188.4(CBL):c.2153G>A (p.Arg718Gln)
|
rs144894769
|
0.00002
|
NM_005188.4(CBL):c.2189C>T (p.Thr730Met)
|
rs376848406
|
0.00002
|
NM_005188.4(CBL):c.2287G>A (p.Gly763Ser)
|
rs1454216416
|
0.00002
|
NM_005188.4(CBL):c.2350G>A (p.Val784Met)
|
rs140725852
|
0.00002
|
NM_005188.4(CBL):c.2485C>T (p.Arg829Trp)
|
rs761245258
|
0.00002
|
NM_005188.4(CBL):c.2678G>A (p.Arg893Gln)
|
rs751198294
|
0.00002
|
NM_005188.4(CBL):c.286C>T (p.Arg96Cys)
|
rs147438359
|
0.00002
|
NM_005188.4(CBL):c.446G>A (p.Arg149Gln)
|
rs199739868
|
0.00002
|
NM_005188.4(CBL):c.560C>T (p.Ala187Val)
|
rs587778162
|
0.00002
|
NM_005188.4(CBL):c.664A>C (p.Met222Leu)
|
rs773611782
|
0.00002
|
NM_005188.4(CBL):c.698A>G (p.Asn233Ser)
|
rs143276937
|
0.00002
|
NM_005188.4(CBL):c.838C>T (p.Arg280Trp)
|
rs730880432
|
0.00002
|
NM_005343.4(HRAS):c.111+6C>T
|
rs377130570
|
0.00002
|
NM_005343.4(HRAS):c.367C>T (p.Arg123Cys)
|
rs369106578
|
0.00002
|
NM_005633.4(SOS1):c.*1385A>G
|
rs868000333
|
0.00002
|
NM_005633.4(SOS1):c.*1391C>T
|
rs1033636331
|
0.00002
|
NM_005633.4(SOS1):c.*230T>C
|
rs1264452853
|
0.00002
|
NM_005633.4(SOS1):c.*4076C>T
|
rs1040937396
|
0.00002
|
NM_005633.4(SOS1):c.1010A>G (p.Tyr337Cys)
|
rs724160007
|
0.00002
|
NM_005633.4(SOS1):c.1202+5A>G
|
rs1021449471
|
0.00002
|
NM_005633.4(SOS1):c.169A>T (p.Asn57Tyr)
|
rs765764610
|
0.00002
|
NM_005633.4(SOS1):c.1892A>T (p.Tyr631Phe)
|
rs770664679
|
0.00002
|
NM_005633.4(SOS1):c.2138G>A (p.Arg713Gln)
|
rs483352826
|
0.00002
|
NM_005633.4(SOS1):c.2369T>C (p.Leu790Ser)
|
rs139859866
|
0.00002
|
NM_005633.4(SOS1):c.2513G>A (p.Cys838Tyr)
|
rs747801798
|
0.00002
|
NM_005633.4(SOS1):c.2567T>C (p.Ile856Thr)
|
rs778865680
|
0.00002
|
NM_005633.4(SOS1):c.3148A>G (p.Met1050Val)
|
rs886041814
|
0.00002
|
NM_005633.4(SOS1):c.3347-3C>T
|
rs779326746
|
0.00002
|
NM_005633.4(SOS1):c.3412A>G (p.Ile1138Val)
|
rs56248239
|
0.00002
|
NM_005633.4(SOS1):c.3502C>G (p.Pro1168Ala)
|
rs756406841
|
0.00002
|
NM_005633.4(SOS1):c.3592A>G (p.Ile1198Val)
|
rs747534810
|
0.00002
|
NM_005633.4(SOS1):c.3821C>G (p.Pro1274Arg)
|
rs886041565
|
0.00002
|
NM_005633.4(SOS1):c.3836C>T (p.Thr1279Ile)
|
rs758258471
|
0.00002
|
NM_005633.4(SOS1):c.39A>G (p.Glu13=)
|
rs763337946
|
0.00002
|
NM_005633.4(SOS1):c.899G>A (p.Arg300Gln)
|
rs754374236
|
0.00002
|
NM_005633.4(SOS1):c.979A>G (p.Ile327Val)
|
rs758546951
|
0.00002
|
NM_006270.5(RRAS):c.10G>T (p.Gly4Trp)
|
rs2081015843
|
0.00002
|
NM_006270.5(RRAS):c.232C>T (p.Arg78Trp)
|
rs755565332
|
0.00002
|
NM_006270.5(RRAS):c.487T>C (p.Ser163Pro)
|
rs1446034967
|
0.00002
|
NM_006270.5(RRAS):c.533A>G (p.Asn178Ser)
|
rs762794552
|
0.00002
|
NM_006270.5(RRAS):c.573-16T>A
|
rs756598983
|
0.00002
|
NM_006270.5(RRAS):c.627G>T (p.Lys209Asn)
|
rs771557284
|
0.00002
|
NM_006767.4(LZTR1):c.2026C>A (p.His676Asn)
|
rs756293448
|
0.00002
|
NM_006767.4(LZTR1):c.2173C>T (p.Arg725Cys)
|
rs778626874
|
0.00002
|
NM_006767.4(LZTR1):c.2263C>T (p.Arg755Trp)
|
rs141161152
|
0.00002
|
NM_006767.4(LZTR1):c.344C>T (p.Pro115Leu)
|
rs756852884
|
0.00002
|
NM_006767.4(LZTR1):c.905C>T (p.Ala302Val)
|
rs765881289
|
0.00002
|
NM_006912.6(RIT1):c.367C>T (p.Arg123Cys)
|
rs1213963509
|
0.00002
|
NM_006912.6(RIT1):c.368G>A (p.Arg123His)
|
rs977405637
|
0.00002
|
NM_006912.6(RIT1):c.646G>A (p.Asp216Asn)
|
rs545031201
|
0.00002
|
NM_006939.4(SOS2):c.1156G>C (p.Asp386His)
|
rs776909576
|
0.00002
|
NM_006939.4(SOS2):c.1208G>C (p.Cys403Ser)
|
rs201821194
|
0.00002
|
NM_006939.4(SOS2):c.1256A>C (p.Lys419Thr)
|
rs199998698
|
0.00002
|
NM_006939.4(SOS2):c.2315T>G (p.Phe772Cys)
|
rs200715068
|
0.00002
|
NM_006939.4(SOS2):c.2347G>T (p.Ala783Ser)
|
rs774498876
|
0.00002
|
NM_006939.4(SOS2):c.2350C>T (p.Arg784Cys)
|
rs760520078
|
0.00002
|
NM_006939.4(SOS2):c.2384+5A>G
|
rs376903120
|
0.00002
|
NM_006939.4(SOS2):c.2396C>T (p.Pro799Leu)
|
rs773672997
|
0.00002
|
NM_006939.4(SOS2):c.2492T>G (p.Leu831Arg)
|
rs553153992
|
0.00002
|
NM_006939.4(SOS2):c.2590A>T (p.Asn864Tyr)
|
rs781119008
|
0.00002
|
NM_006939.4(SOS2):c.3338-4A>G
|
rs777684425
|
0.00002
|
NM_006939.4(SOS2):c.3403A>G (p.Ser1135Gly)
|
rs375478974
|
0.00002
|
NM_006939.4(SOS2):c.3547C>T (p.Pro1183Ser)
|
rs139401491
|
0.00002
|
NM_006939.4(SOS2):c.364G>A (p.Val122Met)
|
rs1208838203
|
0.00002
|
NM_006939.4(SOS2):c.3735T>G (p.Asp1245Glu)
|
rs752525400
|
0.00002
|
NM_006939.4(SOS2):c.714T>G (p.Ser238=)
|
rs750665891
|
0.00002
|
NM_007373.4(SHOC2):c.1337A>G (p.Asn446Ser)
|
rs730881017
|
0.00002
|
NM_007373.4(SHOC2):c.1633A>G (p.Ile545Val)
|
rs778280516
|
0.00002
|
NM_007373.4(SHOC2):c.1738G>A (p.Ala580Thr)
|
rs1234368339
|
0.00002
|
NM_007373.4(SHOC2):c.428G>A (p.Gly143Glu)
|
rs750480407
|
0.00002
|
NM_007373.4(SHOC2):c.961A>G (p.Thr321Ala)
|
rs779218281
|
0.00002
|
NM_030662.4(MAP2K2):c.1163G>A (p.Arg388Gln)
|
rs749615795
|
0.00002
|
NM_030662.4(MAP2K2):c.1189C>T (p.Arg397Cys)
|
rs730880516
|
0.00002
|
NM_030662.4(MAP2K2):c.239C>T (p.Ala80Val)
|
rs142271248
|
0.00002
|
NM_030662.4(MAP2K2):c.326C>T (p.Pro109Leu)
|
rs544242665
|
0.00002
|
NM_030662.4(MAP2K2):c.449T>C (p.Met150Thr)
|
rs1441349097
|
0.00002
|
NM_030662.4(MAP2K2):c.485C>T (p.Ala162Val)
|
rs376299424
|
0.00002
|
NM_030662.4(MAP2K2):c.491G>T (p.Arg164Met)
|
rs751317148
|
0.00002
|
NM_030662.4(MAP2K2):c.528G>A (p.Ala176=)
|
rs767939999
|
0.00002
|
NM_030662.4(MAP2K2):c.535C>T (p.Arg179Trp)
|
rs370799450
|
0.00002
|
NM_030662.4(MAP2K2):c.692G>A (p.Arg231His)
|
rs730880511
|
0.00002
|
NM_030662.4(MAP2K2):c.919G>A (p.Gly307Ser)
|
rs1469141139
|
0.00002
|
NM_030662.4(MAP2K2):c.952A>G (p.Ile318Val)
|
rs1064797064
|
0.00002
|
NM_033360.4(KRAS):c.*16T>C
|
rs779184057
|
0.00002
|
NM_033360.4(KRAS):c.389C>T (p.Ala130Val)
|
rs730880473
|
0.00002
|
NM_152594.3(SPRED1):c.*2398T>G
|
rs1276005784
|
0.00002
|
NM_152594.3(SPRED1):c.*3323C>T
|
rs547019744
|
0.00002
|
NM_152594.3(SPRED1):c.*3340G>A
|
rs571542327
|
0.00002
|
NM_152594.3(SPRED1):c.*3544G>A
|
rs886051116
|
0.00002
|
NM_152594.3(SPRED1):c.*3659A>G
|
rs1015221980
|
0.00002
|
NM_152594.3(SPRED1):c.*4725A>G
|
rs530058944
|
0.00002
|
NM_152594.3(SPRED1):c.*810A>G
|
rs886051108
|
0.00002
|
NM_152594.3(SPRED1):c.1000C>T (p.Arg334Cys)
|
rs765603808
|
0.00002
|
NM_152594.3(SPRED1):c.1005C>T (p.Cys335=)
|
rs768937237
|
0.00002
|
NM_152594.3(SPRED1):c.1282C>T (p.Arg428Cys)
|
rs941091989
|
0.00002
|
NM_152594.3(SPRED1):c.182G>A (p.Arg61His)
|
rs750686148
|
0.00002
|
NM_152594.3(SPRED1):c.610A>G (p.Ile204Val)
|
rs758087535
|
0.00002
|
NM_152594.3(SPRED1):c.875A>G (p.Tyr292Cys)
|
rs201933663
|
0.00002
|
NM_152594.3(SPRED1):c.887G>A (p.Cys296Tyr)
|
rs200974459
|
0.00002
|
NM_001042492.3(NF1):c.*1150C>T
|
rs577642473
|
0.00001
|
NM_001042492.3(NF1):c.*1187C>A
|
rs1184430338
|
0.00001
|
NM_001042492.3(NF1):c.*124C>T
|
rs535911128
|
0.00001
|
NM_001042492.3(NF1):c.*887C>G
|
rs2070712503
|
0.00001
|
NM_001042492.3(NF1):c.-148C>A
|
rs886052792
|
0.00001
|
NM_001042492.3(NF1):c.-73G>T
|
rs886052795
|
0.00001
|
NM_001042492.3(NF1):c.-84C>T
|
rs886052794
|
0.00001
|
NM_001042492.3(NF1):c.-8G>A
|
rs864622331
|
0.00001
|
NM_001042492.3(NF1):c.1004A>G (p.Asn335Ser)
|
rs758212945
|
0.00001
|
NM_001042492.3(NF1):c.1019C>G (p.Ser340Cys)
|
rs771089333
|
0.00001
|
NM_001042492.3(NF1):c.1048G>A (p.Val350Met)
|
rs1185636269
|
0.00001
|
NM_001042492.3(NF1):c.1062+6A>G
|
rs1060500291
|
0.00001
|
NM_001042492.3(NF1):c.1082G>C (p.Ser361Thr)
|
rs876660103
|
0.00001
|
NM_001042492.3(NF1):c.1100G>A (p.Gly367Asp)
|
rs1361040414
|
0.00001
|
NM_001042492.3(NF1):c.1130T>C (p.Ile377Thr)
|
rs878853863
|
0.00001
|
NM_001042492.3(NF1):c.1138C>T (p.Leu380Phe)
|
rs1426127948
|
0.00001
|
NM_001042492.3(NF1):c.1153C>T (p.Arg385Cys)
|
rs1322986962
|
0.00001
|
NM_001042492.3(NF1):c.1156A>G (p.Ile386Val)
|
rs779930387
|
0.00001
|
NM_001042492.3(NF1):c.1219C>T (p.His407Tyr)
|
rs1156614886
|
0.00001
|
NM_001042492.3(NF1):c.1241T>G (p.Leu414Arg)
|
rs1334926587
|
0.00001
|
NM_001042492.3(NF1):c.1243C>T (p.His415Tyr)
|
rs1415155749
|
0.00001
|
NM_001042492.3(NF1):c.1264G>A (p.Ala422Thr)
|
rs786202145
|
0.00001
|
NM_001042492.3(NF1):c.1319G>A (p.Arg440Gln)
|
rs1466678870
|
0.00001
|
NM_001042492.3(NF1):c.1337C>T (p.Thr446Ile)
|
rs1389152072
|
0.00001
|
NM_001042492.3(NF1):c.1357G>A (p.Gly453Ser)
|
rs1273060925
|
0.00001
|
NM_001042492.3(NF1):c.1369C>T (p.His457Tyr)
|
rs757560526
|
0.00001
|
NM_001042492.3(NF1):c.1392G>A (p.Pro464=)
|
rs201604273
|
0.00001
|
NM_001042492.3(NF1):c.1410A>C (p.Glu470Asp)
|
rs786203090
|
0.00001
|
NM_001042492.3(NF1):c.1413A>G (p.Lys471=)
|
rs1309932338
|
0.00001
|
NM_001042492.3(NF1):c.1444A>G (p.Thr482Ala)
|
rs770201871
|
0.00001
|
NM_001042492.3(NF1):c.1472A>G (p.Tyr491Cys)
|
rs199474757
|
0.00001
|
NM_001042492.3(NF1):c.1549G>A (p.Glu517Lys)
|
rs587778548
|
0.00001
|
NM_001042492.3(NF1):c.1553C>T (p.Thr518Ile)
|
rs587782696
|
0.00001
|
NM_001042492.3(NF1):c.1573T>A (p.Leu525Ile)
|
rs2066875204
|
0.00001
|
NM_001042492.3(NF1):c.1624G>T (p.Ala542Ser)
|
rs1242297747
|
0.00001
|
NM_001042492.3(NF1):c.1641+3A>G
|
rs754159326
|
0.00001
|
NM_001042492.3(NF1):c.1721+3dup
|
rs1329765790
|
0.00001
|
NM_001042492.3(NF1):c.1736T>G (p.Phe579Cys)
|
rs1398363349
|
0.00001
|
NM_001042492.3(NF1):c.1756A>C (p.Thr586Pro)
|
rs876659242
|
0.00001
|
NM_001042492.3(NF1):c.1769T>C (p.Met590Thr)
|
rs761559887
|
0.00001
|
NM_001042492.3(NF1):c.17C>G (p.Pro6Arg)
|
rs864622210
|
0.00001
|
NM_001042492.3(NF1):c.1801C>T (p.Arg601Trp)
|
rs587782592
|
0.00001
|
NM_001042492.3(NF1):c.1849G>A (p.Ala617Thr)
|
rs1131691135
|
0.00001
|
NM_001042492.3(NF1):c.1870T>C (p.Phe624Leu)
|
rs765060733
|
0.00001
|
NM_001042492.3(NF1):c.1891G>A (p.Gly631Arg)
|
rs757424379
|
0.00001
|
NM_001042492.3(NF1):c.1900A>G (p.Ile634Val)
|
rs745906742
|
0.00001
|
NM_001042492.3(NF1):c.1904C>T (p.Pro635Leu)
|
rs1597710514
|
0.00001
|
NM_001042492.3(NF1):c.1907C>G (p.Ser636Cys)
|
rs780412565
|
0.00001
|
NM_001042492.3(NF1):c.1921A>G (p.Ser641Gly)
|
rs769154907
|
0.00001
|
NM_001042492.3(NF1):c.1936G>T (p.Asp646Tyr)
|
rs142079728
|
0.00001
|
NM_001042492.3(NF1):c.1972C>T (p.Leu658Phe)
|
rs763901597
|
0.00001
|
NM_001042492.3(NF1):c.1985A>G (p.Lys662Arg)
|
rs578141234
|
0.00001
|
NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg)
|
rs140653372
|
0.00001
|
NM_001042492.3(NF1):c.1991A>G (p.Asn664Ser)
|
rs756145065
|
0.00001
|
NM_001042492.3(NF1):c.1999A>G (p.Met667Val)
|
rs749833271
|
0.00001
|
NM_001042492.3(NF1):c.200A>G (p.Asn67Ser)
|
rs375038808
|
0.00001
|
NM_001042492.3(NF1):c.2045A>C (p.Gln682Pro)
|
rs1304889984
|
0.00001
|
NM_001042492.3(NF1):c.205-13T>A
|
rs886052797
|
0.00001
|
NM_001042492.3(NF1):c.2054C>G (p.Thr685Ser)
|
rs876658190
|
0.00001
|
NM_001042492.3(NF1):c.2065G>A (p.Val689Met)
|
rs771784652
|
0.00001
|
NM_001042492.3(NF1):c.2132G>A (p.Arg711His)
|
rs1479669686
|
0.00001
|
NM_001042492.3(NF1):c.2156T>C (p.Ile719Thr)
|
rs754025938
|
0.00001
|
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln)
|
rs1350468182
|
0.00001
|
NM_001042492.3(NF1):c.2189A>C (p.Asn730Thr)
|
rs778033578
|
0.00001
|
NM_001042492.3(NF1):c.2248A>G (p.Thr750Ala)
|
rs748064845
|
0.00001
|
NM_001042492.3(NF1):c.2251+5A>G
|
rs786201934
|
0.00001
|
NM_001042492.3(NF1):c.2257G>A (p.Ala753Thr)
|
rs758325102
|
0.00001
|
NM_001042492.3(NF1):c.2293C>T (p.Arg765Cys)
|
rs1383770460
|
0.00001
|
NM_001042492.3(NF1):c.2296A>G (p.Ile766Val)
|
rs1303924124
|
0.00001
|
NM_001042492.3(NF1):c.2326-9T>A
|
rs181838967
|
0.00001
|
NM_001042492.3(NF1):c.2342A>T (p.His781Leu)
|
rs199474763
|
0.00001
|
NM_001042492.3(NF1):c.2345C>G (p.Ala782Gly)
|
rs1203924788
|
0.00001
|
NM_001042492.3(NF1):c.2378A>C (p.Asn793Thr)
|
rs772543826
|
0.00001
|
NM_001042492.3(NF1):c.2381A>C (p.Tyr794Ser)
|
rs773624220
|
0.00001
|
NM_001042492.3(NF1):c.2409+5G>A
|
rs763688567
|
0.00001
|
NM_001042492.3(NF1):c.2410-8G>A
|
rs1060500270
|
0.00001
|
NM_001042492.3(NF1):c.2434A>C (p.Ile812Leu)
|
rs587781899
|
0.00001
|
NM_001042492.3(NF1):c.2447G>A (p.Arg816Gln)
|
rs762709897
|
0.00001
|
NM_001042492.3(NF1):c.2451G>A (p.Met817Ile)
|
rs1300226301
|
0.00001
|
NM_001042492.3(NF1):c.2476A>C (p.Ile826Leu)
|
rs767069721
|
0.00001
|
NM_001042492.3(NF1):c.2564G>C (p.Arg855Thr)
|
rs786203716
|
0.00001
|
NM_001042492.3(NF1):c.256A>G (p.Ile86Val)
|
rs757057811
|
0.00001
|
NM_001042492.3(NF1):c.2573C>G (p.Ser858Cys)
|
rs369493270
|
0.00001
|
NM_001042492.3(NF1):c.2576G>C (p.Gly859Ala)
|
rs876659829
|
0.00001
|
NM_001042492.3(NF1):c.2577C>T (p.Gly859=)
|
rs746208651
|
0.00001
|
NM_001042492.3(NF1):c.2581G>C (p.Ala861Pro)
|
rs768425956
|
0.00001
|
NM_001042492.3(NF1):c.2597C>T (p.Pro866Leu)
|
rs767159555
|
0.00001
|
NM_001042492.3(NF1):c.2618G>A (p.Arg873His)
|
rs949092641
|
0.00001
|
NM_001042492.3(NF1):c.2624G>T (p.Gly875Val)
|
rs1060500361
|
0.00001
|
NM_001042492.3(NF1):c.2629A>G (p.Met877Val)
|
rs764950557
|
0.00001
|
NM_001042492.3(NF1):c.2633T>C (p.Ile878Thr)
|
rs372049168
|
0.00001
|
NM_001042492.3(NF1):c.2643G>A (p.Met881Ile)
|
rs376666221
|
0.00001
|
NM_001042492.3(NF1):c.2659G>A (p.Ala887Thr)
|
rs1251621684
|
0.00001
|
NM_001042492.3(NF1):c.2666C>G (p.Thr889Arg)
|
rs369912079
|
0.00001
|
NM_001042492.3(NF1):c.2689C>T (p.Arg897Trp)
|
rs775949348
|
0.00001
|
NM_001042492.3(NF1):c.2690G>A (p.Arg897Gln)
|
rs863224658
|
0.00001
|
NM_001042492.3(NF1):c.2740C>T (p.Arg914Trp)
|
rs765848298
|
0.00001
|
NM_001042492.3(NF1):c.2741G>A (p.Arg914Gln)
|
rs776447057
|
0.00001
|
NM_001042492.3(NF1):c.2749G>A (p.Val917Ile)
|
rs752455591
|
0.00001
|
NM_001042492.3(NF1):c.2765G>A (p.Gly922Asp)
|
rs1378141985
|
0.00001
|
NM_001042492.3(NF1):c.2794A>G (p.Met932Val)
|
rs886052800
|
0.00001
|
NM_001042492.3(NF1):c.2803A>C (p.Asn935His)
|
rs786201823
|
0.00001
|
NM_001042492.3(NF1):c.2809T>G (p.Leu937Val)
|
rs1567849181
|
0.00001
|
NM_001042492.3(NF1):c.2825G>A (p.Ser942Asn)
|
rs1555614350
|
0.00001
|
NM_001042492.3(NF1):c.2850+5A>T
|
rs864622633
|
0.00001
|
NM_001042492.3(NF1):c.2866A>G (p.Thr956Ala)
|
rs2067082802
|
0.00001
|
NM_001042492.3(NF1):c.289-3T>C
|
rs1461646186
|
0.00001
|
NM_001042492.3(NF1):c.2902A>G (p.Met968Val)
|
rs587781499
|
0.00001
|
NM_001042492.3(NF1):c.2927C>T (p.Thr976Ile)
|
rs755404523
|
0.00001
|
NM_001042492.3(NF1):c.2963T>C (p.Ile988Thr)
|
rs746670929
|
0.00001
|
NM_001042492.3(NF1):c.2968A>C (p.Thr990Pro)
|
rs876658299
|
0.00001
|
NM_001042492.3(NF1):c.2971A>G (p.Met991Val)
|
rs1268543864
|
0.00001
|
NM_001042492.3(NF1):c.2995G>A (p.Val999Ile)
|
rs2067090218
|
0.00001
|
NM_001042492.3(NF1):c.2998C>T (p.Arg1000Cys)
|
rs367684252
|
0.00001
|
NM_001042492.3(NF1):c.3009G>T (p.Gly1003=)
|
rs780895334
|
0.00001
|
NM_001042492.3(NF1):c.3011A>G (p.Asn1004Ser)
|
rs1475800240
|
0.00001
|
NM_001042492.3(NF1):c.3013A>G (p.Met1005Val)
|
rs1555614502
|
0.00001
|
NM_001042492.3(NF1):c.3030A>C (p.Gln1010His)
|
rs1405071456
|
0.00001
|
NM_001042492.3(NF1):c.3038C>T (p.Thr1013Met)
|
rs786203132
|
0.00001
|
NM_001042492.3(NF1):c.304A>G (p.Met102Val)
|
rs756370324
|
0.00001
|
NM_001042492.3(NF1):c.3062T>G (p.Val1021Gly)
|
rs1355411201
|
0.00001
|
NM_001042492.3(NF1):c.3079G>A (p.Asp1027Asn)
|
rs774066804
|
0.00001
|
NM_001042492.3(NF1):c.3103A>G (p.Met1035Val)
|
rs771694969
|
0.00001
|
NM_001042492.3(NF1):c.3124G>A (p.Val1042Ile)
|
rs1446427729
|
0.00001
|
NM_001042492.3(NF1):c.3166G>A (p.Ala1056Thr)
|
rs776907522
|
0.00001
|
NM_001042492.3(NF1):c.3197+3A>G
|
rs1359512152
|
0.00001
|
NM_001042492.3(NF1):c.3242C>G (p.Ala1081Gly)
|
rs769941435
|
0.00001
|
NM_001042492.3(NF1):c.3303G>A (p.Gln1101=)
|
rs876659944
|
0.00001
|
NM_001042492.3(NF1):c.3315-5C>T
|
rs1266211447
|
0.00001
|
NM_001042492.3(NF1):c.3330T>A (p.Phe1110Leu)
|
rs1256152851
|
0.00001
|
NM_001042492.3(NF1):c.3352A>G (p.Ser1118Gly)
|
rs201645318
|
0.00001
|
NM_001042492.3(NF1):c.3359T>C (p.Val1120Ala)
|
rs751571517
|
0.00001
|
NM_001042492.3(NF1):c.3362A>G (p.Glu1121Gly)
|
rs757222815
|
0.00001
|
NM_001042492.3(NF1):c.3394C>T (p.Arg1132Cys)
|
rs587781725
|
0.00001
|
NM_001042492.3(NF1):c.3461A>G (p.Asn1154Ser)
|
rs371544233
|
0.00001
|
NM_001042492.3(NF1):c.3469G>A (p.Val1157Ile)
|
rs375845704
|
0.00001
|
NM_001042492.3(NF1):c.3485T>G (p.Met1162Arg)
|
rs200732832
|
0.00001
|
NM_001042492.3(NF1):c.348A>T (p.Glu116Asp)
|
rs1231174547
|
0.00001
|
NM_001042492.3(NF1):c.3490T>G (p.Ser1164Ala)
|
rs750303863
|
0.00001
|
NM_001042492.3(NF1):c.3527G>T (p.Arg1176Ile)
|
rs1227027709
|
0.00001
|
NM_001042492.3(NF1):c.3544G>A (p.Val1182Ile)
|
rs1555615027
|
0.00001
|
NM_001042492.3(NF1):c.3590C>G (p.Ala1197Gly)
|
rs370820478
|
0.00001
|
NM_001042492.3(NF1):c.3694C>T (p.Pro1232Ser)
|
rs1482085668
|
0.00001
|
NM_001042492.3(NF1):c.3722G>A (p.Arg1241Gln)
|
rs543387071
|
0.00001
|
NM_001042492.3(NF1):c.3730G>A (p.Val1244Ile)
|
rs2067186026
|
0.00001
|
NM_001042492.3(NF1):c.3748C>T (p.Arg1250Trp)
|
rs1452005208
|
0.00001
|
NM_001042492.3(NF1):c.3749G>A (p.Arg1250Gln)
|
rs199474765
|
0.00001
|
NM_001042492.3(NF1):c.374G>A (p.Arg125His)
|
rs149003051
|
0.00001
|
NM_001042492.3(NF1):c.3778A>G (p.Met1260Val)
|
rs1264981144
|
0.00001
|
NM_001042492.3(NF1):c.37G>A (p.Val13Met)
|
rs1060500261
|
0.00001
|
NM_001042492.3(NF1):c.3811A>G (p.Met1271Val)
|
rs746583007
|
0.00001
|
NM_001042492.3(NF1):c.3845G>A (p.Ser1282Asn)
|
rs1328592308
|
0.00001
|
NM_001042492.3(NF1):c.386A>G (p.Gln129Arg)
|
rs1060500250
|
0.00001
|
NM_001042492.3(NF1):c.3891A>G (p.Leu1297=)
|
rs753036396
|
0.00001
|
NM_001042492.3(NF1):c.3906T>G (p.Asp1302Glu)
|
rs549058591
|
0.00001
|
NM_001042492.3(NF1):c.3911T>C (p.Leu1304Ser)
|
rs761512189
|
0.00001
|
NM_001042492.3(NF1):c.3940T>C (p.Trp1314Arg)
|
rs576687606
|
0.00001
|
NM_001042492.3(NF1):c.3948T>A (p.His1316Gln)
|
rs1418340346
|
0.00001
|
NM_001042492.3(NF1):c.3962T>C (p.Val1321Ala)
|
rs1060500337
|
0.00001
|
NM_001042492.3(NF1):c.3976T>A (p.Leu1326Ile)
|
rs765957571
|
0.00001
|
NM_001042492.3(NF1):c.3988G>C (p.Glu1330Gln)
|
rs1483311407
|
0.00001
|
NM_001042492.3(NF1):c.3989A>C (p.Glu1330Ala)
|
rs1256727206
|
0.00001
|
NM_001042492.3(NF1):c.4024A>G (p.Met1342Val)
|
rs1597735093
|
0.00001
|
NM_001042492.3(NF1):c.403C>T (p.Arg135Trp)
|
rs775191883
|
0.00001
|
NM_001042492.3(NF1):c.4046C>A (p.Ala1349Asp)
|
rs1229215269
|
0.00001
|
NM_001042492.3(NF1):c.404G>A (p.Arg135Gln)
|
rs1060500244
|
0.00001
|
NM_001042492.3(NF1):c.4055G>C (p.Ser1352Thr)
|
rs876660908
|
0.00001
|
NM_001042492.3(NF1):c.4097A>T (p.His1366Leu)
|
rs769042915
|
0.00001
|
NM_001042492.3(NF1):c.4098C>G (p.His1366Gln)
|
rs1555617377
|
0.00001
|
NM_001042492.3(NF1):c.410C>G (p.Ser137Cys)
|
rs1597635932
|
0.00001
|
NM_001042492.3(NF1):c.4187G>A (p.Arg1396His)
|
rs368685980
|
0.00001
|
NM_001042492.3(NF1):c.4190T>A (p.Phe1397Tyr)
|
rs768223279
|
0.00001
|
NM_001042492.3(NF1):c.4201A>T (p.Ser1401Cys)
|
rs1060500310
|
0.00001
|
NM_001042492.3(NF1):c.4213G>A (p.Val1405Ile)
|
rs1256219174
|
0.00001
|
NM_001042492.3(NF1):c.4220G>A (p.Ser1407Asn)
|
rs2067621332
|
0.00001
|
NM_001042492.3(NF1):c.4225A>G (p.Met1409Val)
|
rs1060500369
|
0.00001
|
NM_001042492.3(NF1):c.4244A>G (p.Asn1415Ser)
|
rs1406169018
|
0.00001
|
NM_001042492.3(NF1):c.4252A>G (p.Ile1418Val)
|
rs369345045
|
0.00001
|
NM_001042492.3(NF1):c.4306G>A (p.Glu1436Lys)
|
rs876660428
|
0.00001
|
NM_001042492.3(NF1):c.4346T>C (p.Ile1449Thr)
|
rs1410459904
|
0.00001
|
NM_001042492.3(NF1):c.4352A>G (p.Asn1451Ser)
|
rs199474754
|
0.00001
|
NM_001042492.3(NF1):c.4373A>G (p.Glu1458Gly)
|
rs878853894
|
0.00001
|
NM_001042492.3(NF1):c.4378C>G (p.His1460Asp)
|
rs377295676
|
0.00001
|
NM_001042492.3(NF1):c.4382T>C (p.Met1461Thr)
|
rs754639587
|
0.00001
|
NM_001042492.3(NF1):c.4384C>T (p.Arg1462Trp)
|
rs876658127
|
0.00001
|
NM_001042492.3(NF1):c.4385G>A (p.Arg1462Gln)
|
rs370852681
|
0.00001
|
NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn)
|
rs876660093
|
0.00001
|
NM_001042492.3(NF1):c.4417G>A (p.Asp1473Asn)
|
rs587781790
|
0.00001
|
NM_001042492.3(NF1):c.4421C>T (p.Ala1474Val)
|
rs587781553
|
0.00001
|
NM_001042492.3(NF1):c.4446A>G (p.Ile1482Met)
|
rs876658776
|
0.00001
|
NM_001042492.3(NF1):c.4460C>T (p.Pro1487Leu)
|
rs2067663223
|
0.00001
|
NM_001042492.3(NF1):c.4489T>C (p.Ser1497Pro)
|
rs763266925
|
0.00001
|
NM_001042492.3(NF1):c.4495A>G (p.Ile1499Val)
|
rs764654925
|
0.00001
|
NM_001042492.3(NF1):c.4504G>A (p.Gly1502Ser)
|
rs876659607
|
0.00001
|
NM_001042492.3(NF1):c.4508A>G (p.Asn1503Ser)
|
rs587781445
|
0.00001
|
NM_001042492.3(NF1):c.451A>C (p.Asn151His)
|
rs769391944
|
0.00001
|
NM_001042492.3(NF1):c.4523A>T (p.His1508Leu)
|
rs1254695587
|
0.00001
|
NM_001042492.3(NF1):c.452A>G (p.Asn151Ser)
|
rs1567817981
|
0.00001
|
NM_001042492.3(NF1):c.4577+3A>G
|
rs1060500246
|
0.00001
|
NM_001042492.3(NF1):c.4578G>A (p.Arg1526=)
|
rs1356757316
|
0.00001
|
NM_001042492.3(NF1):c.4594G>A (p.Gly1532Arg)
|
rs2067689658
|
0.00001
|
NM_001042492.3(NF1):c.4601G>A (p.Arg1534Gln)
|
rs867955218
|
0.00001
|
NM_001042492.3(NF1):c.4655A>G (p.Lys1552Arg)
|
rs1172780277
|
0.00001
|
NM_001042492.3(NF1):c.467G>A (p.Arg156His)
|
rs754096545
|
0.00001
|
NM_001042492.3(NF1):c.4682G>A (p.Ser1561Asn)
|
rs751414513
|
0.00001
|
NM_001042492.3(NF1):c.4690C>T (p.Leu1564Phe)
|
rs1427435078
|
0.00001
|
NM_001042492.3(NF1):c.4724+3A>G
|
rs781147524
|
0.00001
|
NM_001042492.3(NF1):c.4736A>G (p.His1579Arg)
|
rs1275751975
|
0.00001
|
NM_001042492.3(NF1):c.475A>G (p.Thr159Ala)
|
rs371192107
|
0.00001
|
NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met)
|
rs185660700
|
0.00001
|
NM_001042492.3(NF1):c.479+4A>G
|
rs1567818032
|
0.00001
|
NM_001042492.3(NF1):c.4793C>A (p.Thr1598Asn)
|
rs753453385
|
0.00001
|
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val)
|
rs199474766
|
0.00001
|
NM_001042492.3(NF1):c.4835+3A>G
|
rs1417732851
|
0.00001
|
NM_001042492.3(NF1):c.4859G>A (p.Gly1620Asp)
|
rs587782213
|
0.00001
|
NM_001042492.3(NF1):c.4870A>G (p.Ile1624Val)
|
rs1555533280
|
0.00001
|
NM_001042492.3(NF1):c.4901A>G (p.Tyr1634Cys)
|
rs1597829621
|
0.00001
|
NM_001042492.3(NF1):c.4920A>C (p.Glu1640Asp)
|
rs1443684477
|
0.00001
|
NM_001042492.3(NF1):c.4939C>T (p.His1647Tyr)
|
rs2069328243
|
0.00001
|
NM_001042492.3(NF1):c.4945G>A (p.Gly1649Arg)
|
rs770124316
|
0.00001
|
NM_001042492.3(NF1):c.4957C>T (p.Arg1653Cys)
|
rs876659922
|
0.00001
|
NM_001042492.3(NF1):c.5026G>A (p.Ala1676Thr)
|
rs756450772
|
0.00001
|
NM_001042492.3(NF1):c.5079T>G (p.His1693Gln)
|
rs1555533365
|
0.00001
|
NM_001042492.3(NF1):c.5087T>C (p.Leu1696Pro)
|
rs745489489
|
0.00001
|
NM_001042492.3(NF1):c.5098C>T (p.Leu1700Phe)
|
rs775786295
|
0.00001
|
NM_001042492.3(NF1):c.5115G>C (p.Arg1705Ser)
|
rs749669269
|
0.00001
|
NM_001042492.3(NF1):c.5116C>T (p.Leu1706Phe)
|
rs769087878
|
0.00001
|
NM_001042492.3(NF1):c.5125A>G (p.Ile1709Val)
|
rs774720054
|
0.00001
|
NM_001042492.3(NF1):c.5126T>C (p.Ile1709Thr)
|
rs876660316
|
0.00001
|
NM_001042492.3(NF1):c.5146G>C (p.Ala1716Pro)
|
rs767469374
|
0.00001
|
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp)
|
rs773378630
|
0.00001
|
NM_001042492.3(NF1):c.5161C>T (p.His1721Tyr)
|
rs760936909
|
0.00001
|
NM_001042492.3(NF1):c.5167C>G (p.Gln1723Glu)
|
rs766727694
|
0.00001
|
NM_001042492.3(NF1):c.5183C>T (p.Ala1728Val)
|
rs1555533395
|
0.00001
|
NM_001042492.3(NF1):c.5270T>C (p.Val1757Ala)
|
rs1021835871
|
0.00001
|
NM_001042492.3(NF1):c.5290G>A (p.Val1764Ile)
|
rs778427434
|
0.00001
|
NM_001042492.3(NF1):c.5293A>G (p.Thr1765Ala)
|
rs747584987
|
0.00001
|
NM_001042492.3(NF1):c.5344A>G (p.Ile1782Val)
|
rs1160436761
|
0.00001
|
NM_001042492.3(NF1):c.5351A>T (p.Tyr1784Phe)
|
rs1060500280
|
0.00001
|
NM_001042492.3(NF1):c.5357C>T (p.Ser1786Leu)
|
rs1555533569
|
0.00001
|
NM_001042492.3(NF1):c.5358G>A (p.Ser1786=)
|
rs373313111
|
0.00001
|
NM_001042492.3(NF1):c.5407A>G (p.Ile1803Val)
|
rs559910904
|
0.00001
|
NM_001042492.3(NF1):c.541C>G (p.Gln181Glu)
|
rs753529924
|
0.00001
|
NM_001042492.3(NF1):c.5458A>C (p.Ile1820Leu)
|
rs786202459
|
0.00001
|
NM_001042492.3(NF1):c.5468C>G (p.Ser1823Cys)
|
rs1597832156
|
0.00001
|
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)
|
rs797045139
|
0.00001
|
NM_001042492.3(NF1):c.5509G>A (p.Asp1837Asn)
|
rs771597781
|
0.00001
|
NM_001042492.3(NF1):c.550A>C (p.Asn184His)
|
rs1555607101
|
0.00001
|
NM_001042492.3(NF1):c.551A>G (p.Asn184Ser)
|
rs876659849
|
0.00001
|
NM_001042492.3(NF1):c.5536C>T (p.Arg1846Trp)
|
rs769843989
|
0.00001
|
NM_001042492.3(NF1):c.5578C>G (p.Leu1860Val)
|
rs746689492
|
0.00001
|
NM_001042492.3(NF1):c.5610-4C>G
|
rs1419030713
|
0.00001
|
NM_001042492.3(NF1):c.5665G>A (p.Glu1889Lys)
|
rs764782945
|
0.00001
|
NM_001042492.3(NF1):c.5731A>G (p.Ile1911Val)
|
rs146523293
|
0.00001
|
NM_001042492.3(NF1):c.5753A>G (p.Asn1918Ser)
|
rs534249104
|
0.00001
|
NM_001042492.3(NF1):c.575G>A (p.Arg192Gln)
|
rs587781670
|
0.00001
|
NM_001042492.3(NF1):c.5768C>T (p.Thr1923Met)
|
rs786203824
|
0.00001
|
NM_001042492.3(NF1):c.584A>G (p.Lys195Arg)
|
rs587778552
|
0.00001
|
NM_001042492.3(NF1):c.587-3C>T
|
rs375188075
|
0.00001
|
NM_001042492.3(NF1):c.5873G>T (p.Arg1958Leu)
|
rs1296862549
|
0.00001
|
NM_001042492.3(NF1):c.5941A>G (p.Met1981Val)
|
rs762935987
|
0.00001
|
NM_001042492.3(NF1):c.5947A>G (p.Ile1983Val)
|
rs876658484
|
0.00001
|
NM_001042492.3(NF1):c.5951A>G (p.Asn1984Ser)
|
rs764291252
|
0.00001
|
NM_001042492.3(NF1):c.6006+4T>C
|
rs754909198
|
0.00001
|
NM_001042492.3(NF1):c.607G>T (p.Ala203Ser)
|
rs904361724
|
0.00001
|
NM_001042492.3(NF1):c.6148G>T (p.Val2050Phe)
|
rs1300330804
|
0.00001
|
NM_001042492.3(NF1):c.619G>A (p.Val207Ile)
|
rs752959118
|
0.00001
|
NM_001042492.3(NF1):c.6262C>G (p.Leu2088Val)
|
rs752569823
|
0.00001
|
NM_001042492.3(NF1):c.6316G>A (p.Val2106Ile)
|
rs755791578
|
0.00001
|
NM_001042492.3(NF1):c.631G>A (p.Ala211Thr)
|
rs781519491
|
0.00001
|
NM_001042492.3(NF1):c.6322A>T (p.Thr2108Ser)
|
rs1024333224
|
0.00001
|
NM_001042492.3(NF1):c.6334G>A (p.Ala2112Thr)
|
rs749672954
|
0.00001
|
NM_001042492.3(NF1):c.6377T>C (p.Val2126Ala)
|
rs1597843145
|
0.00001
|
NM_001042492.3(NF1):c.6442G>A (p.Val2148Ile)
|
rs770993581
|
0.00001
|
NM_001042492.3(NF1):c.6449G>C (p.Arg2150Thr)
|
rs2069704009
|
0.00001
|
NM_001042492.3(NF1):c.6468C>G (p.Phe2156Leu)
|
rs768464936
|
0.00001
|
NM_001042492.3(NF1):c.6470C>T (p.Ser2157Leu)
|
rs774161532
|
0.00001
|
NM_001042492.3(NF1):c.6488T>G (p.Leu2163Trp)
|
rs1353492847
|
0.00001
|
NM_001042492.3(NF1):c.6643-8T>A
|
rs752079977
|
0.00001
|
NM_001042492.3(NF1):c.6646T>A (p.Cys2216Ser)
|
rs757736155
|
0.00001
|
NM_001042492.3(NF1):c.6665C>T (p.Thr2222Met)
|
rs369803831
|
0.00001
|
NM_001042492.3(NF1):c.6667T>C (p.Cys2223Arg)
|
rs1192120725
|
0.00001
|
NM_001042492.3(NF1):c.6671A>G (p.Lys2224Arg)
|
rs749567006
|
0.00001
|
NM_001042492.3(NF1):c.6704+3A>G
|
rs375560135
|
0.00001
|
NM_001042492.3(NF1):c.6748G>A (p.Val2250Ile)
|
rs1208488322
|
0.00001
|
NM_001042492.3(NF1):c.6761G>A (p.Cys2254Tyr)
|
rs1361250850
|
0.00001
|
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln)
|
rs786202030
|
0.00001
|
NM_001042492.3(NF1):c.6779C>T (p.Ser2260Phe)
|
rs876658775
|
0.00001
|
NM_001042492.3(NF1):c.6785G>A (p.Gly2262Glu)
|
rs997781719
|
0.00001
|
NM_001042492.3(NF1):c.6790A>T (p.Ile2264Leu)
|
rs761213794
|
0.00001
|
NM_001042492.3(NF1):c.6806G>A (p.Arg2269His)
|
rs562367786
|
0.00001
|
NM_001042492.3(NF1):c.680A>T (p.Tyr227Phe)
|
rs1555608742
|
0.00001
|
NM_001042492.3(NF1):c.6819+6T>C
|
rs1407700643
|
0.00001
|
NM_001042492.3(NF1):c.681T>C (p.Tyr227=)
|
rs745804540
|
0.00001
|
NM_001042492.3(NF1):c.6837A>C (p.Leu2279Phe)
|
rs144287929
|
0.00001
|
NM_001042492.3(NF1):c.6839A>G (p.Lys2280Arg)
|
rs773858629
|
0.00001
|
NM_001042492.3(NF1):c.6921+5T>C
|
rs370402788
|
0.00001
|
NM_001042492.3(NF1):c.6921+6T>C
|
rs368541645
|
0.00001
|
NM_001042492.3(NF1):c.6922-6T>G
|
rs892776409
|
0.00001
|
NM_001042492.3(NF1):c.6936C>G (p.His2312Gln)
|
rs1567618937
|
0.00001
|
NM_001042492.3(NF1):c.6958G>A (p.Val2320Met)
|
rs766323701
|
0.00001
|
NM_001042492.3(NF1):c.7009C>T (p.Leu2337Phe)
|
rs367734104
|
0.00001
|
NM_001042492.3(NF1):c.7039A>G (p.Ser2347Gly)
|
rs1060500318
|
0.00001
|
NM_001042492.3(NF1):c.703T>C (p.Tyr235His)
|
rs864622465
|
0.00001
|
NM_001042492.3(NF1):c.7045C>T (p.Arg2349Cys)
|
rs56013763
|
0.00001
|
NM_001042492.3(NF1):c.7080T>A (p.Phe2360Leu)
|
rs2069866250
|
0.00001
|
NM_001042492.3(NF1):c.7087A>G (p.Ile2363Val)
|
rs137966859
|
0.00001
|
NM_001042492.3(NF1):c.7091G>A (p.Arg2364Gln)
|
rs1555535407
|
0.00001
|
NM_001042492.3(NF1):c.7110C>T (p.His2370=)
|
rs201881479
|
0.00001
|
NM_001042492.3(NF1):c.7135G>A (p.Gly2379Arg)
|
rs775476318
|
0.00001
|
NM_001042492.3(NF1):c.7142A>G (p.Asn2381Ser)
|
rs878853912
|
0.00001
|
NM_001042492.3(NF1):c.7148A>G (p.Asn2383Ser)
|
rs146296921
|
0.00001
|
NM_001042492.3(NF1):c.7211C>T (p.Ala2404Val)
|
rs771706364
|
0.00001
|
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val)
|
rs565708398
|
0.00001
|
NM_001042492.3(NF1):c.7241A>G (p.His2414Arg)
|
rs876659855
|
0.00001
|
NM_001042492.3(NF1):c.7253C>T (p.Thr2418Ile)
|
rs764022114
|
0.00001
|
NM_001042492.3(NF1):c.7298C>T (p.Thr2433Ile)
|
rs755749772
|
0.00001
|
NM_001042492.3(NF1):c.730+16dup
|
rs373999174
|
0.00001
|
NM_001042492.3(NF1):c.7306G>A (p.Val2436Met)
|
rs876659856
|
0.00001
|
NM_001042492.3(NF1):c.7323T>G (p.Ala2441=)
|
rs765750009
|
0.00001
|
NM_001042492.3(NF1):c.7326A>G (p.Leu2442=)
|
rs753224880
|
0.00001
|
NM_001042492.3(NF1):c.732A>C (p.Glu244Asp)
|
rs1567826603
|
0.00001
|
NM_001042492.3(NF1):c.7341A>C (p.Glu2447Asp)
|
rs878853915
|
0.00001
|
NM_001042492.3(NF1):c.7349G>A (p.Arg2450Gln)
|
rs533110479
|
0.00001
|
NM_001042492.3(NF1):c.7370A>G (p.His2457Arg)
|
rs863224664
|
0.00001
|
NM_001042492.3(NF1):c.7394A>G (p.Asp2465Gly)
|
rs143474365
|
0.00001
|
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val)
|
rs748027595
|
0.00001
|
NM_001042492.3(NF1):c.7397T>C (p.Ile2466Thr)
|
rs771915484
|
0.00001
|
NM_001042492.3(NF1):c.7402A>G (p.Met2468Val)
|
rs151211377
|
0.00001
|
NM_001042492.3(NF1):c.7432A>G (p.Ile2478Val)
|
rs759307070
|
0.00001
|
NM_001042492.3(NF1):c.7439A>G (p.His2480Arg)
|
rs371151718
|
0.00001
|
NM_001042492.3(NF1):c.7454A>G (p.Tyr2485Cys)
|
rs1022605462
|
0.00001
|
NM_001042492.3(NF1):c.7456A>G (p.Arg2486Gly)
|
rs752162999
|
0.00001
|
NM_001042492.3(NF1):c.7487C>G (p.Ser2496Cys)
|
rs371773406
|
0.00001
|
NM_001042492.3(NF1):c.7496G>C (p.Gly2499Ala)
|
rs375176282
|
0.00001
|
NM_001042492.3(NF1):c.7496G>T (p.Gly2499Val)
|
rs375176282
|
0.00001
|
NM_001042492.3(NF1):c.7513G>A (p.Ala2505Thr)
|
rs786202955
|
0.00001
|
NM_001042492.3(NF1):c.7525C>T (p.Pro2509Ser)
|
rs886052803
|
0.00001
|
NM_001042492.3(NF1):c.7534G>A (p.Gly2512Ser)
|
rs766496842
|
0.00001
|
NM_001042492.3(NF1):c.7552G>A (p.Ala2518Thr)
|
rs1567625163
|
0.00001
|
NM_001042492.3(NF1):c.7585C>T (p.Pro2529Ser)
|
rs1555536370
|
0.00001
|
NM_001042492.3(NF1):c.7616-15A>C
|
rs952554990
|
0.00001
|
NM_001042492.3(NF1):c.7643T>G (p.Ile2548Arg)
|
rs864622266
|
0.00001
|
NM_001042492.3(NF1):c.7645T>C (p.Ser2549Pro)
|
rs767458044
|
0.00001
|
NM_001042492.3(NF1):c.7668G>C (p.Arg2556Ser)
|
rs876659035
|
0.00001
|
NM_001042492.3(NF1):c.7675A>G (p.Met2559Val)
|
rs779373258
|
0.00001
|
NM_001042492.3(NF1):c.7700C>T (p.Pro2567Leu)
|
rs754511534
|
0.00001
|
NM_001042492.3(NF1):c.7729T>C (p.Tyr2577His)
|
rs778143477
|
0.00001
|
NM_001042492.3(NF1):c.7757C>T (p.Ser2586Leu)
|
rs769876049
|
0.00001
|
NM_001042492.3(NF1):c.7780C>T (p.Arg2594Cys)
|
rs372787215
|
0.00001
|
NM_001042492.3(NF1):c.7781G>A (p.Arg2594His)
|
rs774781617
|
0.00001
|
NM_001042492.3(NF1):c.7793T>C (p.Val2598Ala)
|
rs760531845
|
0.00001
|
NM_001042492.3(NF1):c.7810C>G (p.Leu2604Val)
|
rs776602307
|
0.00001
|
NM_001042492.3(NF1):c.781A>G (p.Lys261Glu)
|
rs2066156804
|
0.00001
|
NM_001042492.3(NF1):c.7822G>C (p.Glu2608Gln)
|
rs1597866487
|
0.00001
|
NM_001042492.3(NF1):c.7825G>A (p.Val2609Ile)
|
rs786203848
|
0.00001
|
NM_001042492.3(NF1):c.7837C>T (p.Pro2613Ser)
|
rs138839077
|
0.00001
|
NM_001042492.3(NF1):c.7850C>T (p.Ala2617Val)
|
rs375990655
|
0.00001
|
NM_001042492.3(NF1):c.7876C>G (p.Leu2626Val)
|
rs1555536748
|
0.00001
|
NM_001042492.3(NF1):c.7889C>G (p.Thr2630Ser)
|
rs1283946778
|
0.00001
|
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala)
|
rs199474793
|
0.00001
|
NM_001042492.3(NF1):c.7897G>A (p.Glu2633Lys)
|
rs750754640
|
0.00001
|
NM_001042492.3(NF1):c.78A>T (p.Gly26=)
|
rs748018099
|
0.00001
|
NM_001042492.3(NF1):c.7901T>C (p.Phe2634Ser)
|
rs756567782
|
0.00001
|
NM_001042492.3(NF1):c.7931C>G (p.Ala2644Gly)
|
rs766494934
|
0.00001
|
NM_001042492.3(NF1):c.7943T>G (p.Val2648Gly)
|
rs1487025591
|
0.00001
|
NM_001042492.3(NF1):c.7951C>T (p.Pro2651Ser)
|
rs367858662
|
0.00001
|
NM_001042492.3(NF1):c.8012T>C (p.Leu2671Ser)
|
rs1207124870
|
0.00001
|
NM_001042492.3(NF1):c.8080T>C (p.Ser2694Pro)
|
rs876658554
|
0.00001
|
NM_001042492.3(NF1):c.8092T>C (p.Tyr2698His)
|
rs1405312220
|
0.00001
|
NM_001042492.3(NF1):c.8150C>T (p.Pro2717Leu)
|
rs778799019
|
0.00001
|
NM_001042492.3(NF1):c.8182G>A (p.Ala2728Thr)
|
rs750603086
|
0.00001
|
NM_001042492.3(NF1):c.8192T>C (p.Ile2731Thr)
|
rs1567628605
|
0.00001
|
NM_001042492.3(NF1):c.8237T>C (p.Ile2746Thr)
|
rs756800001
|
0.00001
|
NM_001042492.3(NF1):c.8238T>G (p.Ile2746Met)
|
rs779789452
|
0.00001
|
NM_001042492.3(NF1):c.824T>C (p.Ile275Thr)
|
rs1406698961
|
0.00001
|
NM_001042492.3(NF1):c.8296C>G (p.Leu2766Val)
|
rs749647961
|
0.00001
|
NM_001042492.3(NF1):c.8324A>G (p.Asn2775Ser)
|
rs772090874
|
0.00001
|
NM_001042492.3(NF1):c.8377+4A>G
|
rs1224454019
|
0.00001
|
NM_001042492.3(NF1):c.8378G>C (p.Gly2793Ala)
|
rs1275285522
|
0.00001
|
NM_001042492.3(NF1):c.8386A>C (p.Lys2796Gln)
|
rs1383658117
|
0.00001
|
NM_001042492.3(NF1):c.83A>C (p.Gln28Pro)
|
rs587782686
|
0.00001
|
NM_001042492.3(NF1):c.8423G>C (p.Cys2808Ser)
|
rs148473245
|
0.00001
|
NM_001042492.3(NF1):c.8446G>A (p.Gly2816Arg)
|
rs778233452
|
0.00001
|
NM_001042492.3(NF1):c.844C>A (p.Gln282Lys)
|
rs753054046
|
0.00001
|
NM_001042492.3(NF1):c.845A>G (p.Gln282Arg)
|
rs779034900
|
0.00001
|
NM_001042492.3(NF1):c.848A>T (p.Asp283Val)
|
rs878853921
|
0.00001
|
NM_001042492.3(NF1):c.8495G>A (p.Arg2832His)
|
rs587781523
|
0.00001
|
NM_001042492.3(NF1):c.8497A>G (p.Asn2833Asp)
|
rs786202863
|
0.00001
|
NM_001042492.3(NF1):c.8500A>G (p.Ser2834Gly)
|
rs764858484
|
0.00001
|
NM_001042492.3(NF1):c.8515G>A (p.Val2839Met)
|
rs368149035
|
0.00001
|
NM_001042492.3(NF1):c.853T>G (p.Ser285Ala)
|
rs1555608981
|
0.00001
|
NM_001042492.3(NF1):c.862G>A (p.Val288Met)
|
rs755670651
|
0.00001
|
NM_001042492.3(NF1):c.873A>C (p.Glu291Asp)
|
rs754915138
|
0.00001
|
NM_001042492.3(NF1):c.890A>G (p.Lys297Arg)
|
rs1219929525
|
0.00001
|
NM_001042492.3(NF1):c.911G>A (p.Arg304Gln)
|
rs76015786
|
0.00001
|
NM_001042492.3(NF1):c.91C>T (p.His31Tyr)
|
rs786202864
|
0.00001
|
NM_001042492.3(NF1):c.964A>G (p.Ile322Val)
|
rs755007999
|
0.00001
|
NM_001042492.3(NF1):c.970T>G (p.Cys324Gly)
|
rs199474735
|
0.00001
|
NM_001378470.1(BRAF):c.139-15298A>G
|
rs1265063696
|
0.00001
|
NM_001378475.1(BRAF):c.240+15245G>A
|
rs753354016
|
0.00001
|
NM_002524.5(NRAS):c.*1466A>T
|
rs374183050
|
0.00001
|
NM_002524.5(NRAS):c.*1571A>G
|
rs1457248724
|
0.00001
|
NM_002524.5(NRAS):c.*1974T>C
|
rs1658914654
|
0.00001
|
NM_002524.5(NRAS):c.*2188C>A
|
rs1249096456
|
0.00001
|
NM_002524.5(NRAS):c.*3103G>T
|
rs1290377688
|
0.00001
|
NM_002524.5(NRAS):c.*3341A>T
|
rs1658865519
|
0.00001
|
NM_002524.5(NRAS):c.*340G>A
|
rs1176222040
|
0.00001
|
NM_002524.5(NRAS):c.*536C>T
|
rs886045108
|
0.00001
|
NM_002524.5(NRAS):c.*774A>G
|
rs886045107
|
0.00001
|
NM_002524.5(NRAS):c.112-6C>G
|
rs200604652
|
0.00001
|
NM_002524.5(NRAS):c.250A>G (p.Ile84Val)
|
rs376177995
|
0.00001
|
NM_002524.5(NRAS):c.291-3T>C
|
rs767679721
|
0.00001
|
NM_002524.5(NRAS):c.299T>C (p.Ile100Thr)
|
rs1428145562
|
0.00001
|
NM_002524.5(NRAS):c.331A>G (p.Met111Val)
|
rs776195467
|
0.00001
|
NM_002524.5(NRAS):c.432C>T (p.Thr144=)
|
rs753079400
|
0.00001
|
NM_002524.5(NRAS):c.434C>T (p.Ser145Leu)
|
rs1163400692
|
0.00001
|
NM_002524.5(NRAS):c.464C>T (p.Ala155Val)
|
rs747080102
|
0.00001
|
NM_002524.5(NRAS):c.490C>T (p.Arg164Cys)
|
rs1658971260
|
0.00001
|
NM_002524.5(NRAS):c.69A>G (p.Leu23=)
|
rs771113899
|
0.00001
|
NM_002755.4(MAP2K1):c.1039G>A (p.Ala347Thr)
|
rs746354996
|
0.00001
|
NM_002755.4(MAP2K1):c.1066A>G (p.Met356Val)
|
rs1009731985
|
0.00001
|
NM_002755.4(MAP2K1):c.1115C>T (p.Ala372Val)
|
rs1893220987
|
0.00001
|
NM_002755.4(MAP2K1):c.1130C>T (p.Ser377Phe)
|
rs371140798
|
0.00001
|
NM_002755.4(MAP2K1):c.1172C>T (p.Ala391Val)
|
rs896594939
|
0.00001
|
NM_002755.4(MAP2K1):c.11A>G (p.Lys4Arg)
|
rs761150136
|
0.00001
|
NM_002755.4(MAP2K1):c.251A>G (p.Lys84Arg)
|
rs774932586
|
0.00001
|
NM_002755.4(MAP2K1):c.366C>T (p.Asn122=)
|
rs990673168
|
0.00001
|
NM_002755.4(MAP2K1):c.427A>G (p.Met143Val)
|
rs533695080
|
0.00001
|
NM_002755.4(MAP2K1):c.492A>G (p.Gln164=)
|
rs140822439
|
0.00001
|
NM_002755.4(MAP2K1):c.631G>A (p.Val211Ile)
|
rs727505206
|
0.00001
|
NM_002755.4(MAP2K1):c.71G>C (p.Ser24Thr)
|
rs1290055913
|
0.00001
|
NM_002755.4(MAP2K1):c.772G>A (p.Val258Ile)
|
rs753236280
|
0.00001
|
NM_002755.4(MAP2K1):c.871A>G (p.Arg291Gly)
|
rs747807884
|
0.00001
|
NM_002755.4(MAP2K1):c.939G>C (p.Leu313Phe)
|
rs1361965478
|
0.00001
|
NM_002755.4(MAP2K1):c.961C>T (p.Pro321Ser)
|
rs771613524
|
0.00001
|
NM_002834.5(PTPN11):c.*1038G>A
|
rs931986581
|
0.00001
|
NM_002834.5(PTPN11):c.*1332G>A
|
rs886048973
|
0.00001
|
NM_002834.5(PTPN11):c.*1419G>A
|
rs1435419771
|
0.00001
|
NM_002834.5(PTPN11):c.*1520C>T
|
rs953487891
|
0.00001
|
NM_002834.5(PTPN11):c.*2096T>G
|
rs547373116
|
0.00001
|
NM_002834.5(PTPN11):c.*2179C>T
|
rs1269783582
|
0.00001
|
NM_002834.5(PTPN11):c.*2540G>T
|
rs886048978
|
0.00001
|
NM_002834.5(PTPN11):c.*2907A>C
|
rs886048979
|
0.00001
|
NM_002834.5(PTPN11):c.*3300T>C
|
rs886048980
|
0.00001
|
NM_002834.5(PTPN11):c.*474A>G
|
rs1198836111
|
0.00001
|
NM_002834.5(PTPN11):c.*682T>C
|
rs1223950825
|
0.00001
|
NM_002834.5(PTPN11):c.-71C>T
|
rs1463949594
|
0.00001
|
NM_002834.5(PTPN11):c.1004A>C (p.Gln335Pro)
|
rs886041622
|
0.00001
|
NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala)
|
rs146571700
|
0.00001
|
NM_002834.5(PTPN11):c.1124A>G (p.Tyr375Cys)
|
rs41299183
|
0.00001
|
NM_002834.5(PTPN11):c.115G>A (p.Gly39Arg)
|
rs886041585
|
0.00001
|
NM_002834.5(PTPN11):c.1290C>A (p.Ser430Arg)
|
rs1178602062
|
0.00001
|
NM_002834.5(PTPN11):c.1366G>A (p.Val456Met)
|
rs397516796
|
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.14+6G>A
|
rs1244171867
|
0.00001
|
NM_002834.5(PTPN11):c.1547T>C (p.Met516Thr)
|
rs994514579
|
0.00001
|
NM_002834.5(PTPN11):c.1579C>T (p.Arg527Cys)
|
rs191525506
|
0.00001
|
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=)
|
rs374896287
|
0.00001
|
NM_002834.5(PTPN11):c.1676C>G (p.Pro559Arg)
|
rs1253971623
|
0.00001
|
NM_002834.5(PTPN11):c.1696A>T (p.Thr566Ser)
|
rs746712068
|
0.00001
|
NM_002834.5(PTPN11):c.1697C>T (p.Thr566Met)
|
rs150730493
|
0.00001
|
NM_002834.5(PTPN11):c.1715T>C (p.Met572Thr)
|
rs1415602777
|
0.00001
|
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)
|
rs121918459
|
0.00001
|
NM_002834.5(PTPN11):c.244A>G (p.Met82Val)
|
rs397507515
|
0.00001
|
NM_002834.5(PTPN11):c.289G>C (p.Glu97Gln)
|
rs397507516
|
0.00001
|
NM_002834.5(PTPN11):c.34A>G (p.Thr12Ala)
|
rs1386827892
|
0.00001
|
NM_002834.5(PTPN11):c.440T>G (p.Phe147Cys)
|
rs1179862540
|
0.00001
|
NM_002834.5(PTPN11):c.518G>A (p.Arg173His)
|
rs369155025
|
0.00001
|
NM_002834.5(PTPN11):c.563A>G (p.Asp188Gly)
|
rs1436513335
|
0.00001
|
NM_002834.5(PTPN11):c.583G>A (p.Glu195Lys)
|
rs1181200121
|
0.00001
|
NM_002834.5(PTPN11):c.642G>A (p.Gln214=)
|
rs876661383
|
0.00001
|
NM_002834.5(PTPN11):c.652A>T (p.Thr218Ser)
|
rs768555552
|
0.00001
|
NM_002834.5(PTPN11):c.827A>G (p.Lys276Arg)
|
rs777603059
|
0.00001
|
NM_002834.5(PTPN11):c.860A>C (p.His287Pro)
|
rs2038527071
|
0.00001
|
NM_002834.5(PTPN11):c.931A>G (p.Met311Val)
|
rs774939392
|
0.00001
|
NM_002834.5(PTPN11):c.940T>C (p.Phe314Leu)
|
rs968167995
|
0.00001
|
NM_002834.5(PTPN11):c.957C>T (p.Asn319=)
|
rs771407775
|
0.00001
|
NM_002834.5(PTPN11):c.967C>A (p.Pro323Thr)
|
rs779400765
|
0.00001
|
NM_002834.5(PTPN11):c.983T>C (p.Ile328Thr)
|
rs369430257
|
0.00001
|
NM_002880.4(RAF1):c.*410A>G
|
rs1055682241
|
0.00001
|
NM_002880.4(RAF1):c.*73T>A
|
rs932588742
|
0.00001
|
NM_002880.4(RAF1):c.-27+7G>A
|
rs886057916
|
0.00001
|
NM_002880.4(RAF1):c.1050G>T (p.Met350Ile)
|
rs368860450
|
0.00001
|
NM_002880.4(RAF1):c.1061G>A (p.Arg354Gln)
|
rs906171410
|
0.00001
|
NM_002880.4(RAF1):c.1063A>G (p.Ile355Val)
|
rs727504719
|
0.00001
|
NM_002880.4(RAF1):c.1141G>A (p.Asp381Asn)
|
rs559632360
|
0.00001
|
NM_002880.4(RAF1):c.1150C>G (p.Pro384Ala)
|
rs140788943
|
0.00001
|
NM_002880.4(RAF1):c.1194-3C>T
|
rs1223755089
|
0.00001
|
NM_002880.4(RAF1):c.1297C>G (p.Leu433Val)
|
rs368676608
|
0.00001
|
NM_002880.4(RAF1):c.1334T>G (p.Leu445Arg)
|
rs757591797
|
0.00001
|
NM_002880.4(RAF1):c.1355C>T (p.Thr452Met)
|
rs555781462
|
0.00001
|
NM_002880.4(RAF1):c.1371-3C>T
|
rs2058369542
|
0.00001
|
NM_002880.4(RAF1):c.1553G>A (p.Arg518Gln)
|
rs149580968
|
0.00001
|
NM_002880.4(RAF1):c.1657A>C (p.Asn553His)
|
rs745876012
|
0.00001
|
NM_002880.4(RAF1):c.1685G>T (p.Gly562Val)
|
rs746937683
|
0.00001
|
NM_002880.4(RAF1):c.1687C>T (p.Arg563Ter)
|
rs532786413
|
0.00001
|
NM_002880.4(RAF1):c.1688G>A (p.Arg563Gln)
|
rs727504827
|
0.00001
|
NM_002880.4(RAF1):c.1741A>G (p.Met581Val)
|
rs752063874
|
0.00001
|
NM_002880.4(RAF1):c.1768A>G (p.Lys590Glu)
|
rs763060701
|
0.00001
|
NM_002880.4(RAF1):c.1807C>A (p.Leu603Met)
|
rs1420280008
|
0.00001
|
NM_002880.4(RAF1):c.1835C>G (p.Ser612Cys)
|
rs1319525639
|
0.00001
|
NM_002880.4(RAF1):c.1850A>G (p.Asn617Ser)
|
rs933142627
|
0.00001
|
NM_002880.4(RAF1):c.1852C>T (p.Arg618Trp)
|
rs757290878
|
0.00001
|
NM_002880.4(RAF1):c.1877A>G (p.His626Arg)
|
rs1553609795
|
0.00001
|
NM_002880.4(RAF1):c.1901T>C (p.Ile634Thr)
|
rs1013186582
|
0.00001
|
NM_002880.4(RAF1):c.1904A>G (p.Asn635Ser)
|
rs772585174
|
0.00001
|
NM_002880.4(RAF1):c.1910G>A (p.Cys637Tyr)
|
rs769639669
|
0.00001
|
NM_002880.4(RAF1):c.1928C>T (p.Pro643Leu)
|
rs1382398408
|
0.00001
|
NM_002880.4(RAF1):c.1939G>A (p.Val647Ile)
|
rs730881008
|
0.00001
|
NM_002880.4(RAF1):c.23G>C (p.Trp8Ser)
|
rs780550449
|
0.00001
|
NM_002880.4(RAF1):c.262G>T (p.Val88Leu)
|
rs1559438429
|
0.00001
|
NM_002880.4(RAF1):c.29C>T (p.Thr10Met)
|
rs144637992
|
0.00001
|
NM_002880.4(RAF1):c.31A>T (p.Ile11Phe)
|
rs779001930
|
0.00001
|
NM_002880.4(RAF1):c.321T>C (p.Gly107=)
|
rs201937982
|
0.00001
|
NM_002880.4(RAF1):c.331C>T (p.Arg111Cys)
|
rs773801570
|
0.00001
|
NM_002880.4(RAF1):c.41G>A (p.Gly14Asp)
|
rs757333753
|
0.00001
|
NM_002880.4(RAF1):c.434C>T (p.Thr145Met)
|
rs762448032
|
0.00001
|
NM_002880.4(RAF1):c.462C>G (p.Ile154Met)
|
rs367732360
|
0.00001
|
NM_002880.4(RAF1):c.482A>G (p.Asn161Ser)
|
rs775781057
|
0.00001
|
NM_002880.4(RAF1):c.536A>G (p.Lys179Arg)
|
rs1271531726
|
0.00001
|
NM_002880.4(RAF1):c.589C>G (p.Pro197Ala)
|
rs563575013
|
0.00001
|
NM_002880.4(RAF1):c.601A>G (p.Ile201Val)
|
rs757700986
|
0.00001
|
NM_002880.4(RAF1):c.654A>G (p.Arg218=)
|
rs898490426
|
0.00001
|
NM_002880.4(RAF1):c.676G>A (p.Val226Ile)
|
rs746448519
|
0.00001
|
NM_002880.4(RAF1):c.67G>A (p.Asp23Asn)
|
rs2059451949
|
0.00001
|
NM_002880.4(RAF1):c.683C>G (p.Ser228Cys)
|
rs766437069
|
0.00001
|
NM_002880.4(RAF1):c.709G>A (p.Ala237Thr)
|
rs587777588
|
0.00001
|
NM_002880.4(RAF1):c.70G>A (p.Gly24Ser)
|
rs1019217338
|
0.00001
|
NM_002880.4(RAF1):c.791A>T (p.His264Leu)
|
rs1057517887
|
0.00001
|
NM_002880.4(RAF1):c.835G>A (p.Asp279Asn)
|
rs368796800
|
0.00001
|
NM_002880.4(RAF1):c.845G>A (p.Arg282Gln)
|
rs752713997
|
0.00001
|
NM_002880.4(RAF1):c.863C>T (p.Ala288Val)
|
rs373658870
|
0.00001
|
NM_002880.4(RAF1):c.884G>C (p.Ser295Thr)
|
rs191560404
|
0.00001
|
NM_002880.4(RAF1):c.88C>T (p.Pro30Ser)
|
rs765857063
|
0.00001
|
NM_002880.4(RAF1):c.898C>A (p.Leu300Met)
|
rs1183645997
|
0.00001
|
NM_002880.4(RAF1):c.915G>T (p.Trp305Cys)
|
rs774670909
|
0.00001
|
NM_002880.4(RAF1):c.933C>T (p.Pro311=)
|
rs1553613022
|
0.00001
|
NM_002880.4(RAF1):c.953G>A (p.Arg318Gln)
|
rs757937109
|
0.00001
|
NM_002880.4(RAF1):c.997C>T (p.Arg333Cys)
|
rs551466727
|
0.00001
|
NM_004333.6(BRAF):c.*124G>C
|
rs1317771158
|
0.00001
|
NM_004333.6(BRAF):c.*3C>T
|
rs746680490
|
0.00001
|
NM_004333.6(BRAF):c.-12C>T
|
rs1390547132
|
0.00001
|
NM_004333.6(BRAF):c.-56C>T
|
rs867823794
|
0.00001
|
NM_004333.6(BRAF):c.1027C>T (p.Pro343Ser)
|
rs758935249
|
0.00001
|
NM_004333.6(BRAF):c.1061G>A (p.Arg354Gln)
|
rs1158980679
|
0.00001
|
NM_004333.6(BRAF):c.107C>T (p.Ser36Phe)
|
rs886041827
|
0.00001
|
NM_004333.6(BRAF):c.112G>C (p.Ala38Pro)
|
rs1011563467
|
0.00001
|
NM_004333.6(BRAF):c.113C>T (p.Ala38Val)
|
rs886042293
|
0.00001
|
NM_004333.6(BRAF):c.1166G>A (p.Arg389His)
|
rs577372072
|
0.00001
|
NM_004333.6(BRAF):c.1168G>A (p.Gly390Ser)
|
rs886041424
|
0.00001
|
NM_004333.6(BRAF):c.1178-10A>G
|
rs527835644
|
0.00001
|
NM_004333.6(BRAF):c.1237G>A (p.Val413Met)
|
rs377093637
|
0.00001
|
NM_004333.6(BRAF):c.1369A>T (p.Ile457Phe)
|
rs1008100536
|
0.00001
|
NM_004333.6(BRAF):c.1673G>A (p.Arg558Gln)
|
rs1278812236
|
0.00001
|
NM_004333.6(BRAF):c.1690A>G (p.Met564Val)
|
rs745783052
|
0.00001
|
NM_004333.6(BRAF):c.2015G>T (p.Gly672Val)
|
rs1428696172
|
0.00001
|
NM_004333.6(BRAF):c.2029G>A (p.Asp677Asn)
|
rs886041260
|
0.00001
|
NM_004333.6(BRAF):c.2127+7A>G
|
rs371857758
|
0.00001
|
NM_004333.6(BRAF):c.2156G>A (p.Arg719His)
|
rs368528867
|
0.00001
|
NM_004333.6(BRAF):c.2265C>G (p.Ile755Met)
|
rs763340034
|
0.00001
|
NM_004333.6(BRAF):c.2279A>G (p.Tyr760Cys)
|
rs1305119093
|
0.00001
|
NM_004333.6(BRAF):c.229A>G (p.Ile77Val)
|
rs764408896
|
0.00001
|
NM_004333.6(BRAF):c.254A>G (p.Tyr85Cys)
|
rs1131691387
|
0.00001
|
NM_004333.6(BRAF):c.26G>C (p.Gly9Ala)
|
rs1211436028
|
0.00001
|
NM_004333.6(BRAF):c.280C>A (p.Gln94Lys)
|
rs1002421360
|
0.00001
|
NM_004333.6(BRAF):c.316G>A (p.Gly106Arg)
|
rs749247588
|
0.00001
|
NM_004333.6(BRAF):c.358G>A (p.Val120Ile)
|
rs766748977
|
0.00001
|
NM_004333.6(BRAF):c.35C>T (p.Ala12Val)
|
rs1818678707
|
0.00001
|
NM_004333.6(BRAF):c.365C>A (p.Ser122Tyr)
|
rs397507462
|
0.00001
|
NM_004333.6(BRAF):c.41C>G (p.Pro14Arg)
|
rs397507455
|
0.00001
|
NM_004333.6(BRAF):c.41C>T (p.Pro14Leu)
|
rs397507455
|
0.00001
|
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln)
|
rs557241012
|
0.00001
|
NM_004333.6(BRAF):c.439A>G (p.Ser147Gly)
|
rs397507464
|
0.00001
|
NM_004333.6(BRAF):c.533G>A (p.Arg178Gln)
|
rs746348396
|
0.00001
|
NM_004333.6(BRAF):c.58A>G (p.Asn20Asp)
|
rs1321934224
|
0.00001
|
NM_004333.6(BRAF):c.608+4T>C
|
rs757973379
|
0.00001
|
NM_004333.6(BRAF):c.612G>C (p.Glu204Asp)
|
rs1202874043
|
0.00001
|
NM_004333.6(BRAF):c.63G>A (p.Gly21=)
|
rs1158725219
|
0.00001
|
NM_004333.6(BRAF):c.79G>A (p.Ala27Thr)
|
rs1247014863
|
0.00001
|
NM_004333.6(BRAF):c.89G>A (p.Gly30Asp)
|
rs1273585752
|
0.00001
|
NM_004333.6(BRAF):c.901C>T (p.Pro301Ser)
|
rs34776339
|
0.00001
|
NM_004333.6(BRAF):c.929C>T (p.Thr310Ile)
|
rs757803696
|
0.00001
|
NM_004333.6(BRAF):c.974C>G (p.Ser325Cys)
|
rs1238788540
|
0.00001
|
NM_004333.6(BRAF):c.981-14C>A
|
rs200002171
|
0.00001
|
NM_004333.6(BRAF):c.992T>C (p.Leu331Pro)
|
rs372915332
|
0.00001
|
NM_004409.5(DMPK):c.161-189T>C
|
rs752437441
|
0.00001
|
NM_004985.5(KRAS):c.111+8T>G
|
rs779370636
|
0.00001
|
NM_004985.5(KRAS):c.16C>G (p.Leu6Val)
|
rs1296330213
|
0.00001
|
NM_004985.5(KRAS):c.322G>T (p.Asp108Tyr)
|
rs763553461
|
0.00001
|
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)
|
rs112445441
|
0.00001
|
NM_004985.5(KRAS):c.407G>A (p.Ser136Asn)
|
rs757816355
|
0.00001
|
NM_004985.5(KRAS):c.487A>G (p.Ile163Val)
|
rs1470495974
|
0.00001
|
NM_004985.5(KRAS):c.536A>G (p.Lys179Arg)
|
rs763736188
|
0.00001
|
NM_005188.4(CBL):c.*1258G>A
|
rs886047777
|
0.00001
|
NM_005188.4(CBL):c.*2008A>T
|
rs1483681182
|
0.00001
|
NM_005188.4(CBL):c.*3336A>G
|
rs886047789
|
0.00001
|
NM_005188.4(CBL):c.*4019G>A
|
rs1369491273
|
0.00001
|
NM_005188.4(CBL):c.*4038A>G
|
rs754325180
|
0.00001
|
NM_005188.4(CBL):c.*4337C>T
|
rs773126690
|
0.00001
|
NM_005188.4(CBL):c.*43G>A
|
rs753607176
|
0.00001
|
NM_005188.4(CBL):c.*4755A>C
|
rs190266043
|
0.00001
|
NM_005188.4(CBL):c.*4818C>T
|
rs886047794
|
0.00001
|
NM_005188.4(CBL):c.*5183C>T
|
rs376394251
|
0.00001
|
NM_005188.4(CBL):c.*5379G>T
|
rs1950126052
|
0.00001
|
NM_005188.4(CBL):c.*5944C>T
|
rs962509368
|
0.00001
|
NM_005188.4(CBL):c.*5953C>G
|
rs1216868913
|
0.00001
|
NM_005188.4(CBL):c.*6261A>T
|
rs1343711218
|
0.00001
|
NM_005188.4(CBL):c.*6265C>A
|
rs886047804
|
0.00001
|
NM_005188.4(CBL):c.*6484G>A
|
rs752004590
|
0.00001
|
NM_005188.4(CBL):c.*6532A>G
|
rs1374763076
|
0.00001
|
NM_005188.4(CBL):c.*7761G>A
|
rs745412309
|
0.00001
|
NM_005188.4(CBL):c.1027C>T (p.Arg343Ter)
|
rs765471101
|
0.00001
|
NM_005188.4(CBL):c.1028G>A (p.Arg343Gln)
|
rs759585425
|
0.00001
|
NM_005188.4(CBL):c.1074A>G (p.Gln358=)
|
rs1060500678
|
0.00001
|
NM_005188.4(CBL):c.1094A>G (p.Gln365Arg)
|
rs756742202
|
0.00001
|
NM_005188.4(CBL):c.1139T>C (p.Leu380Pro)
|
rs1377506801
|
0.00001
|
NM_005188.4(CBL):c.1178T>C (p.Ile393Thr)
|
rs775272530
|
0.00001
|
NM_005188.4(CBL):c.1193A>C (p.His398Pro)
|
rs1303812580
|
0.00001
|
NM_005188.4(CBL):c.1217C>T (p.Thr406Ile)
|
rs757834577
|
0.00001
|
NM_005188.4(CBL):c.1227+5G>A
|
rs756550704
|
0.00001
|
NM_005188.4(CBL):c.1240C>G (p.Gln414Glu)
|
rs1268484791
|
0.00001
|
NM_005188.4(CBL):c.124C>T (p.His42Tyr)
|
rs368813067
|
0.00001
|
NM_005188.4(CBL):c.1277C>T (p.Thr426Ile)
|
rs769547118
|
0.00001
|
NM_005188.4(CBL):c.1282C>T (p.Pro428Ser)
|
rs762677807
|
0.00001
|
NM_005188.4(CBL):c.1288G>A (p.Val430Met)
|
rs991981291
|
0.00001
|
NM_005188.4(CBL):c.1298C>T (p.Pro433Leu)
|
rs140627020
|
0.00001
|
NM_005188.4(CBL):c.1324C>A (p.Leu442Met)
|
rs200508558
|
0.00001
|
NM_005188.4(CBL):c.1364A>G (p.Tyr455Cys)
|
rs1565872426
|
0.00001
|
NM_005188.4(CBL):c.1399C>G (p.Leu467Val)
|
rs771673435
|
0.00001
|
NM_005188.4(CBL):c.1424G>T (p.Gly475Val)
|
rs200054267
|
0.00001
|
NM_005188.4(CBL):c.1455C>G (p.Phe485Leu)
|
rs369547447
|
0.00001
|
NM_005188.4(CBL):c.1460T>C (p.Met487Thr)
|
rs995860476
|
0.00001
|
NM_005188.4(CBL):c.1517G>T (p.Arg506Leu)
|
rs746728465
|
0.00001
|
NM_005188.4(CBL):c.1529C>G (p.Pro510Arg)
|
rs776055321
|
0.00001
|
NM_005188.4(CBL):c.1534A>G (p.Ser512Gly)
|
rs1427688105
|
0.00001
|
NM_005188.4(CBL):c.1552A>G (p.Thr518Ala)
|
rs377734587
|
0.00001
|
NM_005188.4(CBL):c.1558T>C (p.Ser520Pro)
|
rs371686364
|
0.00001
|
NM_005188.4(CBL):c.1622A>T (p.Asp541Val)
|
rs147285276
|
0.00001
|
NM_005188.4(CBL):c.1637C>T (p.Pro546Leu)
|
rs751274314
|
0.00001
|
NM_005188.4(CBL):c.1649G>A (p.Arg550Gln)
|
rs1949973841
|
0.00001
|
NM_005188.4(CBL):c.1687C>T (p.Arg563Cys)
|
rs768837912
|
0.00001
|
NM_005188.4(CBL):c.1688G>A (p.Arg563His)
|
rs1423287961
|
0.00001
|
NM_005188.4(CBL):c.1694T>C (p.Leu565Ser)
|
rs1174693367
|
0.00001
|
NM_005188.4(CBL):c.16A>C (p.Lys6Gln)
|
rs746355406
|
0.00001
|
NM_005188.4(CBL):c.1735C>T (p.Pro579Ser)
|
rs752260506
|
0.00001
|
NM_005188.4(CBL):c.1786C>T (p.Pro596Ser)
|
rs1304284873
|
0.00001
|
NM_005188.4(CBL):c.1804G>T (p.Ala602Ser)
|
rs1365230067
|
0.00001
|
NM_005188.4(CBL):c.1822C>A (p.Pro608Thr)
|
rs763666786
|
0.00001
|
NM_005188.4(CBL):c.1829C>A (p.Thr610Lys)
|
rs730880427
|
0.00001
|
NM_005188.4(CBL):c.1849C>T (p.Arg617Trp)
|
rs538013681
|
0.00001
|
NM_005188.4(CBL):c.184C>T (p.Leu62Phe)
|
rs1459635883
|
0.00001
|
NM_005188.4(CBL):c.1891A>G (p.Arg631Gly)
|
rs552590011
|
0.00001
|
NM_005188.4(CBL):c.1997C>T (p.Pro666Leu)
|
rs1461378431
|
0.00001
|
NM_005188.4(CBL):c.2012A>G (p.Asn671Ser)
|
rs760168148
|
0.00001
|
NM_005188.4(CBL):c.202C>T (p.Arg68Trp)
|
rs730880429
|
0.00001
|
NM_005188.4(CBL):c.2044C>G (p.Pro682Ala)
|
rs764430929
|
0.00001
|
NM_005188.4(CBL):c.2053A>G (p.Lys685Glu)
|
rs1555027603
|
0.00001
|
NM_005188.4(CBL):c.2055A>G (p.Lys685=)
|
rs1454595224
|
0.00001
|
NM_005188.4(CBL):c.2062C>T (p.Pro688Ser)
|
rs730880428
|
0.00001
|
NM_005188.4(CBL):c.2086G>A (p.Glu696Lys)
|
rs539217274
|
0.00001
|
NM_005188.4(CBL):c.2108C>T (p.Pro703Leu)
|
rs368798262
|
0.00001
|
NM_005188.4(CBL):c.2125C>T (p.Arg709Trp)
|
rs587778155
|
0.00001
|
NM_005188.4(CBL):c.2155G>A (p.Ala719Thr)
|
rs757126995
|
0.00001
|
NM_005188.4(CBL):c.2227T>C (p.Ser743Pro)
|
rs759665371
|
0.00001
|
NM_005188.4(CBL):c.2230A>G (p.Ile744Val)
|
rs1422371091
|
0.00001
|
NM_005188.4(CBL):c.227C>T (p.Ala76Val)
|
rs757898729
|
0.00001
|
NM_005188.4(CBL):c.2308G>A (p.Glu770Lys)
|
rs749595774
|
0.00001
|
NM_005188.4(CBL):c.2318G>A (p.Gly773Glu)
|
rs1241925405
|
0.00001
|
NM_005188.4(CBL):c.2339C>T (p.Pro780Leu)
|
rs1401610037
|
0.00001
|
NM_005188.4(CBL):c.2366C>T (p.Thr789Ile)
|
rs757530036
|
0.00001
|
NM_005188.4(CBL):c.2389A>C (p.Ser797Arg)
|
rs138151048
|
0.00001
|
NM_005188.4(CBL):c.2390G>C (p.Ser797Thr)
|
rs747073805
|
0.00001
|
NM_005188.4(CBL):c.2393C>T (p.Ser798Phe)
|
rs587778158
|
0.00001
|
NM_005188.4(CBL):c.23G>A (p.Ser8Asn)
|
rs930860175
|
0.00001
|
NM_005188.4(CBL):c.2401G>T (p.Gly801Cys)
|
rs1465141746
|
0.00001
|
NM_005188.4(CBL):c.2414_2416dup (p.Leu805_Asp806insVal)
|
rs777761446
|
0.00001
|
NM_005188.4(CBL):c.2432C>T (p.Thr811Ile)
|
rs749068285
|
0.00001
|
NM_005188.4(CBL):c.2433A>G (p.Thr811=)
|
rs200566020
|
0.00001
|
NM_005188.4(CBL):c.2458C>G (p.Pro820Ala)
|
rs1356499832
|
0.00001
|
NM_005188.4(CBL):c.2503C>T (p.Arg835Trp)
|
rs368696716
|
0.00001
|
NM_005188.4(CBL):c.2515A>G (p.Ser839Gly)
|
rs748936051
|
0.00001
|
NM_005188.4(CBL):c.2530A>C (p.Ser844Arg)
|
rs587778159
|
0.00001
|
NM_005188.4(CBL):c.2533G>A (p.Gly845Ser)
|
rs997859448
|
0.00001
|
NM_005188.4(CBL):c.2537C>T (p.Pro846Leu)
|
rs771831548
|
0.00001
|
NM_005188.4(CBL):c.2557G>A (p.Ala853Thr)
|
rs1393832618
|
0.00001
|
NM_005188.4(CBL):c.2584G>A (p.Glu862Lys)
|
rs397507498
|
0.00001
|
NM_005188.4(CBL):c.2612A>G (p.Tyr871Cys)
|
rs1237783221
|
0.00001
|
NM_005188.4(CBL):c.2656G>A (p.Glu886Lys)
|
rs1435757249
|
0.00001
|
NM_005188.4(CBL):c.2692A>G (p.Ile898Val)
|
rs397507499
|
0.00001
|
NM_005188.4(CBL):c.271A>G (p.Thr91Ala)
|
rs587778160
|
0.00001
|
NM_005188.4(CBL):c.292A>G (p.Ile98Val)
|
rs1415440583
|
0.00001
|
NM_005188.4(CBL):c.41G>A (p.Gly14Asp)
|
rs868791422
|
0.00001
|
NM_005188.4(CBL):c.469A>G (p.Ile157Val)
|
rs730880430
|
0.00001
|
NM_005188.4(CBL):c.511A>G (p.Ser171Gly)
|
rs1358074406
|
0.00001
|
NM_005188.4(CBL):c.572G>C (p.Arg191Thr)
|
rs756736832
|
0.00001
|
NM_005188.4(CBL):c.578C>T (p.Ala193Val)
|
rs749633193
|
0.00001
|
NM_005188.4(CBL):c.611G>C (p.Ser204Thr)
|
rs759082853
|
0.00001
|
NM_005188.4(CBL):c.625C>G (p.Leu209Val)
|
rs767162260
|
0.00001
|
NM_005188.4(CBL):c.691A>G (p.Thr231Ala)
|
rs1457872297
|
0.00001
|
NM_005188.4(CBL):c.755C>G (p.Ser252Cys)
|
rs1477764968
|
0.00001
|
NM_005188.4(CBL):c.805A>G (p.Met269Val)
|
rs372452974
|
0.00001
|
NM_005188.4(CBL):c.826G>A (p.Glu276Lys)
|
rs755244263
|
0.00001
|
NM_005188.4(CBL):c.829G>T (p.Val277Leu)
|
rs1439017220
|
0.00001
|
NM_005188.4(CBL):c.839G>A (p.Arg280Gln)
|
rs145155035
|
0.00001
|
NM_005188.4(CBL):c.93C>A (p.Asp31Glu)
|
rs376679438
|
0.00001
|
NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys)
|
rs764622691
|
0.00001
|
NM_005343.4(HRAS):c.221C>T (p.Thr74Ile)
|
rs1291306227
|
0.00001
|
NM_005343.4(HRAS):c.223G>A (p.Gly75Arg)
|
rs756190012
|
0.00001
|
NM_005343.4(HRAS):c.277A>G (p.Ile93Val)
|
rs587782949
|
0.00001
|
NM_005343.4(HRAS):c.297G>T (p.Gln99His)
|
rs199656012
|
0.00001
|
NM_005343.4(HRAS):c.302A>G (p.Lys101Arg)
|
rs1131691997
|
0.00001
|
NM_005343.4(HRAS):c.304C>T (p.Arg102Trp)
|
rs1057517913
|
0.00001
|
NM_005343.4(HRAS):c.307G>A (p.Val103Met)
|
rs1213269684
|
0.00001
|
NM_005343.4(HRAS):c.317C>T (p.Ser106Leu)
|
rs730880462
|
0.00001
|
NM_005343.4(HRAS):c.31G>A (p.Ala11Thr)
|
rs727504496
|
0.00001
|
NM_005343.4(HRAS):c.329C>T (p.Pro110Leu)
|
rs1204223913
|
0.00001
|
NM_005343.4(HRAS):c.365C>T (p.Ala122Val)
|
rs779711606
|
0.00001
|
NM_005343.4(HRAS):c.382C>T (p.Arg128Trp)
|
rs1350889077
|
0.00001
|
NM_005343.4(HRAS):c.383G>C (p.Arg128Pro)
|
rs1554884794
|
0.00001
|
NM_005343.4(HRAS):c.391C>T (p.Gln131Ter)
|
rs376688893
|
0.00001
|
NM_005343.4(HRAS):c.394G>A (p.Asp132Asn)
|
rs759893630
|
0.00001
|
NM_005343.4(HRAS):c.398T>A (p.Leu133His)
|
rs766801436
|
0.00001
|
NM_005343.4(HRAS):c.400G>A (p.Ala134Thr)
|
rs1389157073
|
0.00001
|
NM_005343.4(HRAS):c.407G>A (p.Ser136Asn)
|
rs748289593
|
0.00001
|
NM_005343.4(HRAS):c.410A>C (p.Tyr137Ser)
|
rs1180561549
|
0.00001
|
NM_005343.4(HRAS):c.422A>G (p.Tyr141Cys)
|
rs372048612
|
0.00001
|
NM_005343.4(HRAS):c.451-3C>T
|
rs1158205210
|
0.00001
|
NM_005343.4(HRAS):c.454G>A (p.Val152Met)
|
rs1851183840
|
0.00001
|
NM_005343.4(HRAS):c.461A>T (p.Asp154Val)
|
rs1434040739
|
0.00001
|
NM_005343.4(HRAS):c.463G>A (p.Ala155Thr)
|
rs1171537215
|
0.00001
|
NM_005343.4(HRAS):c.482G>A (p.Arg161His)
|
rs748729430
|
0.00001
|
NM_005343.4(HRAS):c.490C>T (p.Arg164Trp)
|
rs779101895
|
0.00001
|
NM_005343.4(HRAS):c.491G>A (p.Arg164Gln)
|
rs753977266
|
0.00001
|
NM_005343.4(HRAS):c.496C>T (p.His166Tyr)
|
rs1439562437
|
0.00001
|
NM_005343.4(HRAS):c.536C>T (p.Pro179Leu)
|
rs760429548
|
0.00001
|
NM_005343.4(HRAS):c.538G>A (p.Gly180Ser)
|
rs772602067
|
0.00001
|
NM_005343.4(HRAS):c.546G>A (p.Met182Ile)
|
rs748639813
|
0.00001
|
NM_005343.4(HRAS):c.566C>T (p.Ser189Phe)
|
rs1851173218
|
0.00001
|
NM_005633.4(SOS1):c.*2218T>A
|
rs886056009
|
0.00001
|
NM_005633.4(SOS1):c.*2497G>A
|
rs886056008
|
0.00001
|
NM_005633.4(SOS1):c.*3041A>C
|
rs1167439482
|
0.00001
|
NM_005633.4(SOS1):c.*4265A>G
|
rs377303107
|
0.00001
|
NM_005633.4(SOS1):c.*544C>T
|
rs886056020
|
0.00001
|
NM_005633.4(SOS1):c.*642T>C
|
rs886056019
|
0.00001
|
NM_005633.4(SOS1):c.1000G>A (p.Ala334Thr)
|
rs765820430
|
0.00001
|
NM_005633.4(SOS1):c.1007A>G (p.Gln336Arg)
|
rs765028553
|
0.00001
|
NM_005633.4(SOS1):c.1075-16C>T
|
rs112540686
|
0.00001
|
NM_005633.4(SOS1):c.1170A>G (p.Ile390Met)
|
rs1380491347
|
0.00001
|
NM_005633.4(SOS1):c.1202+3G>A
|
rs904487658
|
0.00001
|
NM_005633.4(SOS1):c.1266G>A (p.Met422Ile)
|
rs1212129369
|
0.00001
|
NM_005633.4(SOS1):c.1271A>G (p.Glu424Gly)
|
rs730881042
|
0.00001
|
NM_005633.4(SOS1):c.127G>C (p.Asp43His)
|
rs730881052
|
0.00001
|
NM_005633.4(SOS1):c.1303A>G (p.Lys435Glu)
|
rs138920742
|
0.00001
|
NM_005633.4(SOS1):c.1385T>A (p.Phe462Tyr)
|
rs730881043
|
0.00001
|
NM_005633.4(SOS1):c.1412G>C (p.Cys471Ser)
|
rs397517151
|
0.00001
|
NM_005633.4(SOS1):c.143T>C (p.Val48Ala)
|
rs373898570
|
0.00001
|
NM_005633.4(SOS1):c.1554A>G (p.Leu518=)
|
rs765369803
|
0.00001
|
NM_005633.4(SOS1):c.1564A>C (p.Asn522His)
|
rs761094509
|
0.00001
|
NM_005633.4(SOS1):c.1568G>A (p.Ser523Asn)
|
rs1156669922
|
0.00001
|
NM_005633.4(SOS1):c.1574T>C (p.Ile525Thr)
|
rs146722878
|
0.00001
|
NM_005633.4(SOS1):c.1607A>G (p.Asn536Ser)
|
rs1363908468
|
0.00001
|
NM_005633.4(SOS1):c.1626A>G (p.Ile542Met)
|
rs746798986
|
0.00001
|
NM_005633.4(SOS1):c.1627T>C (p.Ser543Pro)
|
rs981234810
|
0.00001
|
NM_005633.4(SOS1):c.1635G>A (p.Gln545=)
|
rs1240207005
|
0.00001
|
NM_005633.4(SOS1):c.1640G>A (p.Arg547Gln)
|
rs149775695
|
0.00001
|
NM_005633.4(SOS1):c.1681G>A (p.Glu561Lys)
|
rs1393222137
|
0.00001
|
NM_005633.4(SOS1):c.1768G>A (p.Glu590Lys)
|
rs730881047
|
0.00001
|
NM_005633.4(SOS1):c.1820T>C (p.Ile607Thr)
|
rs758699499
|
0.00001
|
NM_005633.4(SOS1):c.1828A>G (p.Ile610Val)
|
rs763425122
|
0.00001
|
NM_005633.4(SOS1):c.1931T>C (p.Ile644Thr)
|
rs769891933
|
0.00001
|
NM_005633.4(SOS1):c.1983A>G (p.Ile661Met)
|
rs747203627
|
0.00001
|
NM_005633.4(SOS1):c.199G>A (p.Ala67Thr)
|
rs730881053
|
0.00001
|
NM_005633.4(SOS1):c.2012G>C (p.Ser671Thr)
|
rs1060503525
|
0.00001
|
NM_005633.4(SOS1):c.2089G>T (p.Val697Leu)
|
rs966388444
|
0.00001
|
NM_005633.4(SOS1):c.2097C>A (p.His699Gln)
|
rs765074047
|
0.00001
|
NM_005633.4(SOS1):c.2105A>G (p.Tyr702Cys)
|
rs757094189
|
0.00001
|
NM_005633.4(SOS1):c.2121T>C (p.Asp707=)
|
rs571408451
|
0.00001
|
NM_005633.4(SOS1):c.213+9A>G
|
rs553097014
|
0.00001
|
NM_005633.4(SOS1):c.2137C>A (p.Arg713=)
|
rs1572822400
|
0.00001
|
NM_005633.4(SOS1):c.2158A>G (p.Thr720Ala)
|
rs367634525
|
0.00001
|
NM_005633.4(SOS1):c.2227G>C (p.Ala743Pro)
|
rs759584440
|
0.00001
|
NM_005633.4(SOS1):c.2279C>T (p.Thr760Ile)
|
rs730881027
|
0.00001
|
NM_005633.4(SOS1):c.2344A>G (p.Ile782Val)
|
rs778580742
|
0.00001
|
NM_005633.4(SOS1):c.2351T>C (p.Ile784Thr)
|
rs1335137808
|
0.00001
|
NM_005633.4(SOS1):c.23A>G (p.Tyr8Cys)
|
rs781093356
|
0.00001
|
NM_005633.4(SOS1):c.2489A>G (p.Asn830Ser)
|
rs397517158
|
0.00001
|
NM_005633.4(SOS1):c.2606A>G (p.Asn869Ser)
|
rs730881030
|
0.00001
|
NM_005633.4(SOS1):c.2684G>A (p.Ser895Asn)
|
rs1164976822
|
0.00001
|
NM_005633.4(SOS1):c.2728G>C (p.Asp910His)
|
rs369277679
|
0.00001
|
NM_005633.4(SOS1):c.281T>C (p.Ile94Thr)
|
rs397517161
|
0.00001
|
NM_005633.4(SOS1):c.2945G>A (p.Arg982Gln)
|
rs1553351453
|
0.00001
|
NM_005633.4(SOS1):c.2990T>C (p.Met997Thr)
|
rs1321926273
|
0.00001
|
NM_005633.4(SOS1):c.2998A>T (p.Ser1000Cys)
|
rs730881031
|
0.00001
|
NM_005633.4(SOS1):c.2999G>A (p.Ser1000Asn)
|
rs891035934
|
0.00001
|
NM_005633.4(SOS1):c.3197G>C (p.Ser1066Thr)
|
rs1428068201
|
0.00001
|
NM_005633.4(SOS1):c.3229G>A (p.Ala1077Thr)
|
rs775100470
|
0.00001
|
NM_005633.4(SOS1):c.3257C>T (p.Pro1086Leu)
|
rs730881028
|
0.00001
|
NM_005633.4(SOS1):c.3274G>A (p.Ala1092Thr)
|
rs373948887
|
0.00001
|
NM_005633.4(SOS1):c.3290G>C (p.Ser1097Thr)
|
rs727505379
|
0.00001
|
NM_005633.4(SOS1):c.3352G>T (p.Asp1118Tyr)
|
rs1276062555
|
0.00001
|
NM_005633.4(SOS1):c.3358G>A (p.Val1120Ile)
|
rs368767111
|
0.00001
|
NM_005633.4(SOS1):c.3370G>A (p.Val1124Ile)
|
rs1342428273
|
0.00001
|
NM_005633.4(SOS1):c.3391+3T>C
|
rs761579423
|
0.00001
|
NM_005633.4(SOS1):c.3413T>A (p.Ile1138Lys)
|
rs1433351757
|
0.00001
|
NM_005633.4(SOS1):c.34A>T (p.Ser12Cys)
|
rs751776207
|
0.00001
|
NM_005633.4(SOS1):c.3524A>C (p.His1175Pro)
|
rs730881035
|
0.00001
|
NM_005633.4(SOS1):c.3531C>A (p.Asp1177Glu)
|
rs730881049
|
0.00001
|
NM_005633.4(SOS1):c.3585A>G (p.Arg1195=)
|
rs587781173
|
0.00001
|
NM_005633.4(SOS1):c.3602G>A (p.Arg1201Gln)
|
rs1422169849
|
0.00001
|
NM_005633.4(SOS1):c.3610A>G (p.Ile1204Val)
|
rs374497013
|
0.00001
|
NM_005633.4(SOS1):c.3662G>C (p.Arg1221Thr)
|
rs768987761
|
0.00001
|
NM_005633.4(SOS1):c.3707C>T (p.Pro1236Leu)
|
rs533661246
|
0.00001
|
NM_005633.4(SOS1):c.3721A>G (p.Lys1241Glu)
|
rs367693130
|
0.00001
|
NM_005633.4(SOS1):c.3734G>T (p.Gly1245Val)
|
rs397517169
|
0.00001
|
NM_005633.4(SOS1):c.3763C>A (p.Pro1255Thr)
|
rs972166211
|
0.00001
|
NM_005633.4(SOS1):c.376G>A (p.Val126Ile)
|
rs755770649
|
0.00001
|
NM_005633.4(SOS1):c.3772C>A (p.Pro1258Thr)
|
rs956446097
|
0.00001
|
NM_005633.4(SOS1):c.3884G>A (p.Arg1295Gln)
|
rs1668542997
|
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.464A>G (p.Tyr155Cys)
|
rs1188280924
|
0.00001
|
NM_005633.4(SOS1):c.473C>T (p.Thr158Ile)
|
rs776744951
|
0.00001
|
NM_005633.4(SOS1):c.560C>A (p.Ser187Tyr)
|
rs730881038
|
0.00001
|
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys)
|
rs886041241
|
0.00001
|
NM_005633.4(SOS1):c.638G>A (p.Arg213Gln)
|
rs374761537
|
0.00001
|
NM_005633.4(SOS1):c.643T>C (p.Tyr215His)
|
rs730881039
|
0.00001
|
NM_005633.4(SOS1):c.675T>G (p.Val225=)
|
rs371482290
|
0.00001
|
NM_005633.4(SOS1):c.688T>G (p.Phe230Val)
|
rs397517177
|
0.00001
|
NM_005633.4(SOS1):c.754A>C (p.Ile252Leu)
|
rs1158811958
|
0.00001
|
NM_005633.4(SOS1):c.835G>A (p.Val279Ile)
|
rs188055807
|
0.00001
|
NM_005633.4(SOS1):c.847T>C (p.Phe283Leu)
|
rs1222945881
|
0.00001
|
NM_005633.4(SOS1):c.864+3A>G
|
rs201119821
|
0.00001
|
NM_005633.4(SOS1):c.865-4T>C
|
rs750788947
|
0.00001
|
NM_005633.4(SOS1):c.985G>A (p.Glu329Lys)
|
rs756679265
|
0.00001
|
NM_006270.5(RRAS):c.11G>C (p.Gly4Ala)
|
rs1201865280
|
0.00001
|
NM_006270.5(RRAS):c.153+3A>G
|
rs200100211
|
0.00001
|
NM_006270.5(RRAS):c.158A>T (p.Tyr53Phe)
|
rs908791453
|
0.00001
|
NM_006270.5(RRAS):c.167C>G (p.Ser56Cys)
|
rs537601977
|
0.00001
|
NM_006270.5(RRAS):c.200C>T (p.Thr67Met)
|
rs778415296
|
0.00001
|
NM_006270.5(RRAS):c.233G>A (p.Arg78Gln)
|
rs1162722748
|
0.00001
|
NM_006270.5(RRAS):c.296G>A (p.Arg99His)
|
rs1287689249
|
0.00001
|
NM_006270.5(RRAS):c.325G>A (p.Ala109Thr)
|
rs1358894507
|
0.00001
|
NM_006270.5(RRAS):c.394C>T (p.Arg132Cys)
|
rs773258112
|
0.00001
|
NM_006270.5(RRAS):c.422G>C (p.Gly141Ala)
|
rs369240501
|
0.00001
|
NM_006270.5(RRAS):c.427A>T (p.Lys143Ter)
|
rs896071517
|
0.00001
|
NM_006270.5(RRAS):c.448C>T (p.Arg150Cys)
|
rs767209383
|
0.00001
|
NM_006270.5(RRAS):c.453+4C>T
|
rs774803334
|
0.00001
|
NM_006270.5(RRAS):c.457C>A (p.Pro153Thr)
|
rs1423079476
|
0.00001
|
NM_006270.5(RRAS):c.496G>A (p.Val166Met)
|
rs151171681
|
0.00001
|
NM_006270.5(RRAS):c.509A>G (p.Glu170Gly)
|
rs1162824119
|
0.00001
|
NM_006270.5(RRAS):c.515C>T (p.Ser172Leu)
|
rs754342165
|
0.00001
|
NM_006270.5(RRAS):c.527G>A (p.Arg176His)
|
rs556200895
|
0.00001
|
NM_006270.5(RRAS):c.535G>A (p.Val179Met)
|
rs769754956
|
0.00001
|
NM_006270.5(RRAS):c.53G>A (p.Gly18Glu)
|
rs1447937831
|
0.00001
|
NM_006270.5(RRAS):c.562C>T (p.Arg188Trp)
|
rs538230538
|
0.00001
|
NM_006270.5(RRAS):c.614C>T (p.Ala205Val)
|
rs1043558932
|
0.00001
|
NM_006270.5(RRAS):c.61C>T (p.Pro21Ser)
|
rs1166281308
|
0.00001
|
NM_006270.5(RRAS):c.74C>T (p.Pro25Leu)
|
rs558985706
|
0.00001
|
NM_006767.4(LZTR1):c.1254G>C (p.Arg418Ser)
|
rs746064505
|
0.00001
|
NM_006767.4(LZTR1):c.1283C>T (p.Thr428Met)
|
rs1253225013
|
0.00001
|
NM_006767.4(LZTR1):c.1354-5T>A
|
rs368421766
|
0.00001
|
NM_006767.4(LZTR1):c.1689G>A (p.Glu563=)
|
rs977829129
|
0.00001
|
NM_006767.4(LZTR1):c.1982G>A (p.Gly661Glu)
|
rs750582696
|
0.00001
|
NM_006767.4(LZTR1):c.2246A>G (p.Tyr749Cys)
|
rs755260815
|
0.00001
|
NM_006767.4(LZTR1):c.2437A>C (p.Ser813Arg)
|
rs1311281590
|
0.00001
|
NM_006767.4(LZTR1):c.2462T>C (p.Ile821Thr)
|
rs1275511136
|
0.00001
|
NM_006767.4(LZTR1):c.361C>T (p.His121Tyr)
|
rs1569154492
|
0.00001
|
NM_006767.4(LZTR1):c.59C>T (p.Ala20Val)
|
rs770762358
|
0.00001
|
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)
|
rs1223430276
|
0.00001
|
NM_006912.6(RIT1):c.13A>T (p.Thr5Ser)
|
rs771768320
|
0.00001
|
NM_006912.6(RIT1):c.140C>T (p.Pro47Leu)
|
rs747376042
|
0.00001
|
NM_006912.6(RIT1):c.163+6C>A
|
rs1157450415
|
0.00001
|
NM_006912.6(RIT1):c.208A>T (p.Asn70Tyr)
|
rs1394425355
|
0.00001
|
NM_006912.6(RIT1):c.257G>A (p.Arg86Gln)
|
rs1185965337
|
0.00001
|
NM_006912.6(RIT1):c.326A>G (p.His109Arg)
|
rs1407666045
|
0.00001
|
NM_006912.6(RIT1):c.334C>T (p.Arg112Cys)
|
rs375724784
|
0.00001
|
NM_006912.6(RIT1):c.35G>A (p.Cys12Tyr)
|
rs1177306699
|
0.00001
|
NM_006912.6(RIT1):c.461G>A (p.Arg154Gln)
|
rs754596127
|
0.00001
|
NM_006912.6(RIT1):c.46G>A (p.Ala16Thr)
|
rs1131692009
|
0.00001
|
NM_006912.6(RIT1):c.500A>G (p.Tyr167Cys)
|
rs1372704169
|
0.00001
|
NM_006912.6(RIT1):c.539G>A (p.Arg180Gln)
|
rs760845441
|
0.00001
|
NM_006912.6(RIT1):c.548G>A (p.Arg183His)
|
rs1673291082
|
0.00001
|
NM_006912.6(RIT1):c.575C>T (p.Ala192Val)
|
rs376391961
|
0.00001
|
NM_006939.4(SOS2):c.1000C>T (p.Arg334Cys)
|
rs1364027643
|
0.00001
|
NM_006939.4(SOS2):c.1009C>A (p.Leu337Ile)
|
rs1204583343
|
0.00001
|
NM_006939.4(SOS2):c.1121C>A (p.Ala374Asp)
|
rs1447501425
|
0.00001
|
NM_006939.4(SOS2):c.1146A>G (p.Gln382=)
|
rs1178247373
|
0.00001
|
NM_006939.4(SOS2):c.1197-3T>C
|
rs1252986580
|
0.00001
|
NM_006939.4(SOS2):c.1273A>G (p.Lys425Glu)
|
rs372203654
|
0.00001
|
NM_006939.4(SOS2):c.1312T>C (p.Cys438Arg)
|
rs368795570
|
0.00001
|
NM_006939.4(SOS2):c.1430G>A (p.Arg477Gln)
|
rs139953230
|
0.00001
|
NM_006939.4(SOS2):c.1557G>C (p.Glu519Asp)
|
rs1884935096
|
0.00001
|
NM_006939.4(SOS2):c.1615C>T (p.Leu539Phe)
|
rs781687371
|
0.00001
|
NM_006939.4(SOS2):c.1633C>T (p.Arg545Cys)
|
rs148019428
|
0.00001
|
NM_006939.4(SOS2):c.1732A>G (p.Lys578Glu)
|
rs748480687
|
0.00001
|
NM_006939.4(SOS2):c.1747A>G (p.Asn583Asp)
|
rs1388854755
|
0.00001
|
NM_006939.4(SOS2):c.1859A>G (p.Asn620Ser)
|
rs772156276
|
0.00001
|
NM_006939.4(SOS2):c.189G>C (p.Gln63His)
|
rs771269309
|
0.00001
|
NM_006939.4(SOS2):c.1973A>G (p.Lys658Arg)
|
rs1317956888
|
0.00001
|
NM_006939.4(SOS2):c.1989A>G (p.Lys663=)
|
rs1488158197
|
0.00001
|
NM_006939.4(SOS2):c.2068G>A (p.Val690Ile)
|
rs766745289
|
0.00001
|
NM_006939.4(SOS2):c.2161+10A>G
|
rs201629454
|
0.00001
|
NM_006939.4(SOS2):c.2245A>G (p.Asn749Asp)
|
rs764992819
|
0.00001
|
NM_006939.4(SOS2):c.2255T>A (p.Phe752Tyr)
|
rs1392882497
|
0.00001
|
NM_006939.4(SOS2):c.2269C>T (p.Pro757Ser)
|
rs775139330
|
0.00001
|
NM_006939.4(SOS2):c.2290A>G (p.Ser764Gly)
|
rs779464455
|
0.00001
|
NM_006939.4(SOS2):c.2443A>G (p.Asn815Asp)
|
rs886041958
|
0.00001
|
NM_006939.4(SOS2):c.2471G>A (p.Arg824His)
|
rs1433825913
|
0.00001
|
NM_006939.4(SOS2):c.2602G>A (p.Gly868Ser)
|
rs751419448
|
0.00001
|
NM_006939.4(SOS2):c.2657A>G (p.His886Arg)
|
rs775815870
|
0.00001
|
NM_006939.4(SOS2):c.2722G>A (p.Asp908Asn)
|
rs957376198
|
0.00001
|
NM_006939.4(SOS2):c.2849G>A (p.Gly950Glu)
|
rs765330931
|
0.00001
|
NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys)
|
rs772746106
|
0.00001
|
NM_006939.4(SOS2):c.2985G>A (p.Met995Ile)
|
rs746630297
|
0.00001
|
NM_006939.4(SOS2):c.3026A>G (p.Asn1009Ser)
|
rs779413196
|
0.00001
|
NM_006939.4(SOS2):c.3056G>A (p.Cys1019Tyr)
|
rs1883997609
|
0.00001
|
NM_006939.4(SOS2):c.3076-3C>T
|
rs1293540485
|
0.00001
|
NM_006939.4(SOS2):c.3149G>T (p.Gly1050Val)
|
rs1012247714
|
0.00001
|
NM_006939.4(SOS2):c.3215C>T (p.Ala1072Val)
|
rs1798276045
|
0.00001
|
NM_006939.4(SOS2):c.3266C>A (p.Pro1089Gln)
|
rs1409054252
|
0.00001
|
NM_006939.4(SOS2):c.3275C>T (p.Pro1092Leu)
|
rs1442962879
|
0.00001
|
NM_006939.4(SOS2):c.3277C>T (p.Pro1093Ser)
|
rs755233845
|
0.00001
|
NM_006939.4(SOS2):c.3356C>T (p.Ala1119Val)
|
rs376113934
|
0.00001
|
NM_006939.4(SOS2):c.346-3C>T
|
rs758131262
|
0.00001
|
NM_006939.4(SOS2):c.3571G>C (p.Val1191Leu)
|
rs934357386
|
0.00001
|
NM_006939.4(SOS2):c.3619C>T (p.Pro1207Ser)
|
rs1883398374
|
0.00001
|
NM_006939.4(SOS2):c.362A>G (p.Lys121Arg)
|
rs1456011298
|
0.00001
|
NM_006939.4(SOS2):c.3698A>C (p.Asn1233Thr)
|
rs201756168
|
0.00001
|
NM_006939.4(SOS2):c.374A>T (p.His125Leu)
|
rs777300218
|
0.00001
|
NM_006939.4(SOS2):c.3761C>G (p.Thr1254Arg)
|
rs772587016
|
0.00001
|
NM_006939.4(SOS2):c.3782C>G (p.Thr1261Ser)
|
rs780772018
|
0.00001
|
NM_006939.4(SOS2):c.3793A>G (p.Thr1265Ala)
|
rs1053118797
|
0.00001
|
NM_006939.4(SOS2):c.3815G>A (p.Arg1272His)
|
rs200104745
|
0.00001
|
NM_006939.4(SOS2):c.3845A>G (p.Asn1282Ser)
|
rs376158218
|
0.00001
|
NM_006939.4(SOS2):c.3944C>T (p.Ser1315Leu)
|
rs865922330
|
0.00001
|
NM_006939.4(SOS2):c.533A>C (p.Gln178Pro)
|
rs1273376869
|
0.00001
|
NM_006939.4(SOS2):c.575G>C (p.Ser192Thr)
|
rs1886005182
|
0.00001
|
NM_006939.4(SOS2):c.643C>T (p.Arg215Trp)
|
rs745812984
|
0.00001
|
NM_006939.4(SOS2):c.74C>T (p.Ser25Leu)
|
rs1887534256
|
0.00001
|
NM_006939.4(SOS2):c.88-17A>G
|
rs776823815
|
0.00001
|
NM_006939.4(SOS2):c.947C>G (p.Pro316Arg)
|
rs1885702697
|
0.00001
|
NM_007373.4(SHOC2):c.*1269A>G
|
rs772654155
|
0.00001
|
NM_007373.4(SHOC2):c.*825G>A
|
rs921664394
|
0.00001
|
NM_007373.4(SHOC2):c.*990T>G
|
rs1274288913
|
0.00001
|
NM_007373.4(SHOC2):c.-235+15A>G
|
rs1309762163
|
0.00001
|
NM_007373.4(SHOC2):c.-254C>T
|
rs886046728
|
0.00001
|
NM_007373.4(SHOC2):c.-264A>T
|
rs1367943420
|
0.00001
|
NM_007373.4(SHOC2):c.1047T>C (p.Gly349=)
|
rs199869304
|
0.00001
|
NM_007373.4(SHOC2):c.1073A>G (p.Tyr358Cys)
|
rs779128466
|
0.00001
|
NM_007373.4(SHOC2):c.1161+5G>T
|
rs375479660
|
0.00001
|
NM_007373.4(SHOC2):c.1273G>A (p.Val425Ile)
|
rs772835258
|
0.00001
|
NM_007373.4(SHOC2):c.1288C>T (p.Leu430Phe)
|
rs730881022
|
0.00001
|
NM_007373.4(SHOC2):c.1417T>A (p.Leu473Ile)
|
rs767686810
|
0.00001
|
NM_007373.4(SHOC2):c.1422+8T>G
|
rs1267333219
|
0.00001
|
NM_007373.4(SHOC2):c.1425A>G (p.Lys475=)
|
rs1483409374
|
0.00001
|
NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr)
|
rs995403413
|
0.00001
|
NM_007373.4(SHOC2):c.1447T>C (p.Leu483=)
|
rs539117121
|
0.00001
|
NM_007373.4(SHOC2):c.1595G>C (p.Ser532Thr)
|
rs370798940
|
0.00001
|
NM_007373.4(SHOC2):c.1600C>G (p.Pro534Ala)
|
rs1060501926
|
0.00001
|
NM_007373.4(SHOC2):c.1660A>G (p.Ser554Gly)
|
rs771053632
|
0.00001
|
NM_007373.4(SHOC2):c.1682T>C (p.Val561Ala)
|
rs776628753
|
0.00001
|
NM_007373.4(SHOC2):c.169T>C (p.Ser57Pro)
|
rs754709778
|
0.00001
|
NM_007373.4(SHOC2):c.1736G>A (p.Arg579His)
|
rs1185910534
|
0.00001
|
NM_007373.4(SHOC2):c.1744G>A (p.Val582Ile)
|
rs1564732203
|
0.00001
|
NM_007373.4(SHOC2):c.233C>T (p.Ala78Val)
|
rs201197595
|
0.00001
|
NM_007373.4(SHOC2):c.332C>T (p.Ser111Phe)
|
rs149084468
|
0.00001
|
NM_007373.4(SHOC2):c.445A>G (p.Met149Val)
|
rs766550166
|
0.00001
|
NM_007373.4(SHOC2):c.52G>A (p.Val18Ile)
|
rs1226932309
|
0.00001
|
NM_007373.4(SHOC2):c.574G>T (p.Asp192Tyr)
|
rs769457449
|
0.00001
|
NM_007373.4(SHOC2):c.616A>G (p.Thr206Ala)
|
rs370388274
|
0.00001
|
NM_007373.4(SHOC2):c.619G>A (p.Val207Met)
|
rs998435032
|
0.00001
|
NM_007373.4(SHOC2):c.701T>C (p.Ile234Thr)
|
rs751292868
|
0.00001
|
NM_007373.4(SHOC2):c.733G>A (p.Val245Ile)
|
rs761636280
|
0.00001
|
NM_007373.4(SHOC2):c.743A>G (p.Asn248Ser)
|
rs374067666
|
0.00001
|
NM_007373.4(SHOC2):c.757C>T (p.Leu253Phe)
|
rs1196924389
|
0.00001
|
NM_007373.4(SHOC2):c.769A>G (p.Ile257Val)
|
rs1476197124
|
0.00001
|
NM_007373.4(SHOC2):c.770T>C (p.Ile257Thr)
|
rs1300537933
|
0.00001
|
NM_007373.4(SHOC2):c.842-3C>T
|
rs1485718634
|
0.00001
|
NM_007373.4(SHOC2):c.920G>C (p.Ser307Thr)
|
rs1848351785
|
0.00001
|
NM_030662.4(MAP2K2):c.1006G>A (p.Gly336Ser)
|
rs1599282416
|
0.00001
|
NM_030662.4(MAP2K2):c.1010T>G (p.Val337Gly)
|
rs1232245814
|
0.00001
|
NM_030662.4(MAP2K2):c.1022A>C (p.Asp341Ala)
|
rs2040903643
|
0.00001
|
NM_030662.4(MAP2K2):c.102G>C (p.Leu34=)
|
rs549772449
|
0.00001
|
NM_030662.4(MAP2K2):c.1036G>A (p.Val346Ile)
|
rs1015139062
|
0.00001
|
NM_030662.4(MAP2K2):c.1064C>T (p.Ala355Val)
|
rs768826287
|
0.00001
|
NM_030662.4(MAP2K2):c.1092A>C (p.Thr364=)
|
rs779378237
|
0.00001
|
NM_030662.4(MAP2K2):c.1138G>A (p.Ala380Thr)
|
rs867823488
|
0.00001
|
NM_030662.4(MAP2K2):c.1141G>A (p.Gly381Ser)
|
rs565860695
|
0.00001
|
NM_030662.4(MAP2K2):c.1177G>A (p.Gly393Ser)
|
rs755887476
|
0.00001
|
NM_030662.4(MAP2K2):c.1180A>T (p.Thr394Ser)
|
rs730880515
|
0.00001
|
NM_030662.4(MAP2K2):c.1195G>A (p.Ala399Thr)
|
rs1382101858
|
0.00001
|
NM_030662.4(MAP2K2):c.237C>T (p.Gly79=)
|
rs755173195
|
0.00001
|
NM_030662.4(MAP2K2):c.247G>A (p.Gly83Ser)
|
rs765755554
|
0.00001
|
NM_030662.4(MAP2K2):c.26T>C (p.Leu9Pro)
|
rs758307267
|
0.00001
|
NM_030662.4(MAP2K2):c.333C>G (p.Ile111Met)
|
rs2041142671
|
0.00001
|
NM_030662.4(MAP2K2):c.349C>T (p.Arg117Cys)
|
rs749389113
|
0.00001
|
NM_030662.4(MAP2K2):c.370G>A (p.Glu124Lys)
|
rs1037950431
|
0.00001
|
NM_030662.4(MAP2K2):c.388A>G (p.Ile130Val)
|
rs1263759203
|
0.00001
|
NM_030662.4(MAP2K2):c.457G>A (p.Gly153Ser)
|
rs772534863
|
0.00001
|
NM_030662.4(MAP2K2):c.499G>A (p.Glu167Lys)
|
rs1457335620
|
0.00001
|
NM_030662.4(MAP2K2):c.514A>G (p.Lys172Glu)
|
rs1413580671
|
0.00001
|
NM_030662.4(MAP2K2):c.553C>T (p.Arg185Ter)
|
rs1390219813
|
0.00001
|
NM_030662.4(MAP2K2):c.556G>C (p.Glu186Gln)
|
rs1469284383
|
0.00001
|
NM_030662.4(MAP2K2):c.611C>G (p.Ser204Cys)
|
rs775668076
|
0.00001
|
NM_030662.4(MAP2K2):c.661G>A (p.Asp221Asn)
|
rs2041001051
|
0.00001
|
NM_030662.4(MAP2K2):c.682G>A (p.Val228Met)
|
rs999810842
|
0.00001
|
NM_030662.4(MAP2K2):c.689C>T (p.Thr230Met)
|
rs369714097
|
0.00001
|
NM_030662.4(MAP2K2):c.707C>T (p.Pro236Leu)
|
rs1309234276
|
0.00001
|
NM_030662.4(MAP2K2):c.811G>A (p.Asp271Asn)
|
rs758031424
|
0.00001
|
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr)
|
rs757240576
|
0.00001
|
NM_030662.4(MAP2K2):c.826G>C (p.Glu276Gln)
|
rs889422963
|
0.00001
|
NM_030662.4(MAP2K2):c.842G>A (p.Arg281Gln)
|
rs1332074575
|
0.00001
|
NM_030662.4(MAP2K2):c.907C>T (p.Arg303Cys)
|
rs770521279
|
0.00001
|
NM_030662.4(MAP2K2):c.913G>A (p.Val305Ile)
|
rs730880509
|
0.00001
|
NM_030662.4(MAP2K2):c.928A>G (p.Met310Val)
|
rs766715536
|
0.00001
|
NM_030662.4(MAP2K2):c.937C>T (p.Arg313Trp)
|
rs772831628
|
0.00001
|
NM_030662.4(MAP2K2):c.951C>T (p.Ala317=)
|
rs1041035741
|
0.00001
|
NM_030662.4(MAP2K2):c.971A>G (p.Tyr324Cys)
|
rs730880512
|
0.00001
|
NM_032322.4(RNF135):c.575C>T (p.Thr192Ile)
|
rs1907708509
|
0.00001
|
NM_033360.4(KRAS):c.*1326C>T
|
rs574966178
|
0.00001
|
NM_033360.4(KRAS):c.*1777A>G
|
rs886049193
|
0.00001
|
NM_033360.4(KRAS):c.*2360A>G
|
rs886049189
|
0.00001
|
NM_033360.4(KRAS):c.*4195G>A
|
rs886049177
|
0.00001
|
NM_033360.4(KRAS):c.*4643G>A
|
rs886049176
|
0.00001
|
NM_033360.4(KRAS):c.112-5C>T
|
rs376520586
|
0.00001
|
NM_144670.6(A2ML1):c.3397A>C (p.Asn1133His)
|
rs1466413438
|
0.00001
|
NM_152594.3(SPRED1):c.*1337A>C
|
rs570038934
|
0.00001
|
NM_152594.3(SPRED1):c.*149G>A
|
rs776485386
|
0.00001
|
NM_152594.3(SPRED1):c.*1727G>T
|
rs1296705457
|
0.00001
|
NM_152594.3(SPRED1):c.*2251G>A
|
rs1045444732
|
0.00001
|
NM_152594.3(SPRED1):c.*2444T>A
|
rs1355715078
|
0.00001
|
NM_152594.3(SPRED1):c.*2990T>C
|
rs1888571276
|
0.00001
|
NM_152594.3(SPRED1):c.*4744G>T
|
rs886051120
|
0.00001
|
NM_152594.3(SPRED1):c.*936C>A
|
rs1888514694
|
0.00001
|
NM_152594.3(SPRED1):c.1001G>A (p.Arg334His)
|
rs146702985
|
0.00001
|
NM_152594.3(SPRED1):c.1031A>G (p.His344Arg)
|
rs376679136
|
0.00001
|
NM_152594.3(SPRED1):c.1033G>C (p.Glu345Gln)
|
rs1306435872
|
0.00001
|
NM_152594.3(SPRED1):c.1085G>A (p.Cys362Tyr)
|
rs1255579349
|
0.00001
|
NM_152594.3(SPRED1):c.1217C>T (p.Ala406Val)
|
rs748390368
|
0.00001
|
NM_152594.3(SPRED1):c.1238T>C (p.Ile413Thr)
|
rs1156410015
|
0.00001
|
NM_152594.3(SPRED1):c.1261G>A (p.Val421Ile)
|
rs752958999
|
0.00001
|
NM_152594.3(SPRED1):c.1298G>A (p.Cys433Tyr)
|
rs779454951
|
0.00001
|
NM_152594.3(SPRED1):c.1301G>T (p.Gly434Val)
|
rs746414913
|
0.00001
|
NM_152594.3(SPRED1):c.1307G>A (p.Cys436Tyr)
|
rs772421738
|
0.00001
|
NM_152594.3(SPRED1):c.1313G>T (p.Gly438Val)
|
rs573603750
|
0.00001
|
NM_152594.3(SPRED1):c.1324G>A (p.Ala442Thr)
|
rs761401264
|
0.00001
|
NM_152594.3(SPRED1):c.149A>T (p.Gln50Leu)
|
rs1475256958
|
0.00001
|
NM_152594.3(SPRED1):c.157A>G (p.Asn53Asp)
|
rs1261567261
|
0.00001
|
NM_152594.3(SPRED1):c.170A>G (p.Asp57Gly)
|
rs959758606
|
0.00001
|
NM_152594.3(SPRED1):c.211G>A (p.Val71Ile)
|
rs369150309
|
0.00001
|
NM_152594.3(SPRED1):c.281T>C (p.Ile94Thr)
|
rs761473300
|
0.00001
|
NM_152594.3(SPRED1):c.305C>T (p.Thr102Met)
|
rs754706111
|
0.00001
|
NM_152594.3(SPRED1):c.32A>T (p.Asp11Val)
|
rs1452661347
|
0.00001
|
NM_152594.3(SPRED1):c.353G>A (p.Arg118Lys)
|
rs373381933
|
0.00001
|
NM_152594.3(SPRED1):c.406G>A (p.Gly136Arg)
|
rs1555391158
|
0.00001
|
NM_152594.3(SPRED1):c.43G>A (p.Ala15Thr)
|
rs753924528
|
0.00001
|
NM_152594.3(SPRED1):c.477A>T (p.Gln159His)
|
rs781477854
|
0.00001
|
NM_152594.3(SPRED1):c.505A>G (p.Arg169Gly)
|
rs1895994329
|
0.00001
|
NM_152594.3(SPRED1):c.50T>C (p.Val17Ala)
|
rs1421913267
|
0.00001
|
NM_152594.3(SPRED1):c.511T>C (p.Ser171Pro)
|
rs376527959
|
0.00001
|
NM_152594.3(SPRED1):c.564G>A (p.Met188Ile)
|
rs202092705
|
0.00001
|
NM_152594.3(SPRED1):c.578A>G (p.Asn193Ser)
|
rs766431294
|
0.00001
|
NM_152594.3(SPRED1):c.583A>T (p.Ile195Leu)
|
rs1385820657
|
0.00001
|
NM_152594.3(SPRED1):c.58G>C (p.Val20Leu)
|
rs780614363
|
0.00001
|
NM_152594.3(SPRED1):c.641G>A (p.Arg214Gln)
|
rs371274407
|
0.00001
|
NM_152594.3(SPRED1):c.683G>A (p.Arg228Lys)
|
rs951963194
|
0.00001
|
NM_152594.3(SPRED1):c.6C>A (p.Ser2Arg)
|
rs775693385
|
0.00001
|
NM_152594.3(SPRED1):c.700A>G (p.Ile234Val)
|
rs1199792537
|
0.00001
|
NM_152594.3(SPRED1):c.707A>G (p.His236Arg)
|
rs886051104
|
0.00001
|
NM_152594.3(SPRED1):c.807T>G (p.Asn269Lys)
|
rs886041428
|
0.00001
|
NM_152594.3(SPRED1):c.892G>C (p.Asp298His)
|
rs761001792
|
0.00001
|
NM_152594.3(SPRED1):c.920A>G (p.Asp307Gly)
|
rs764868020
|
0.00001
|
NM_152594.3(SPRED1):c.922T>G (p.Ser308Ala)
|
rs765841849
|
0.00001
|
NM_152594.3(SPRED1):c.951A>T (p.Ser317=)
|
rs899712805
|
0.00001
|
NM_152594.3(SPRED1):c.982G>A (p.Glu328Lys)
|
rs1352455265
|
0.00001
|
NM_152594.3(SPRED1):c.995G>A (p.Arg332His)
|
rs779966392
|
0.00001
|
GRCh37/hg19 10q25.2(chr10:112021329-113054313)x3
|
|
|
NC_000001.10:g.(?_113456513)_(116311162_?)dup
|
|
|
NC_000001.10:g.(?_155581953)_(155880552_?)del
|
|
|
NC_000001.10:g.(?_155870159)_(155880696_?)dup
|
|
|
NC_000001.10:g.(?_155870179)_(155880552_?)dup
|
|
|
NC_000001.10:g.(?_155874092)_(155880686_?)dup
|
|
|
NC_000001.10:g.(?_155877093)_(155880300_?)del
|
|
|
NC_000001.10:g.(?_155880221)_(156109650_?)del
|
|
|
NC_000002.11:g.(?_38297845)_(39347583_?)dup
|
|
|
NC_000002.11:g.(?_39212965)_(39251298_?)dup
|
|
|
NC_000002.11:g.(?_39249778)_(39255748_?)del
|
|
|
NC_000002.11:g.(?_39278265)_(39347563_?)dup
|
|
|
NC_000002.11:g.(?_39278265)_(39347583_?)dup
|
|
|
NC_000002.11:g.(?_39283823)_(39347563_?)dup
|
|
|
NC_000002.11:g.(?_39294749)_(39347583_?)dup
|
|
|
NC_000002.11:g.(?_39347457)_(39347563_?)dup
|
|
|
NC_000003.11:g.(?_12558090)_(12629156_?)dup
|
|
|
NC_000003.11:g.(?_12626003)_(12660230_?)dup
|
|
|
NC_000003.11:g.(?_12627160)_(12627318_?)dup
|
|
|
NC_000003.11:g.(?_12629070)_(12660220_?)dup
|
|
|
NC_000003.11:g.(?_12632277)_(12633311_?)del
|
|
|
NC_000003.11:g.(?_12641170)_(12660220_?)dup
|
|
|
NC_000003.11:g.(?_12641190)_(12791339_?)dup
|
|
|
NC_000003.11:g.(?_12645615)_(12660220_?)dup
|
|
|
NC_000003.11:g.(?_12650245)_(12660220_?)dup
|
|
|
NC_000003.12:g.(?_12584504)_(12618731_?)del
|
|
|
NC_000003.12:g.(?_12590788)_(12591802_?)del
|
|
|
NC_000003.12:g.12589035_12766981dup
|
|
|
NC_000007.13:g.(?_138391369)_(141759786_?)del
|
|
|
NC_000007.13:g.(?_140434377)_(140534692_?)dup
|
|
|
NC_000007.13:g.(?_140434397)_(140550032_?)dup
|
|
|
NC_000007.13:g.(?_140434397)_(140624503_?)dup
|
|
|
NC_000007.13:g.(?_140534389)_(140534692_?)del
|
|
|
NC_000007.13:g.(?_140624346)_(140624503_?)dup
|
|
|
NC_000007.14:g.(?_140734587)_(140924713_?)dup
|
|
|
NC_000011.10:g.(?_532616)_(534342_?)dup
|
|
|
NC_000011.10:g.(?_532636)_(534322_?)del
|
|
|
NC_000011.10:g.(?_534206)_(534328_?)dup
|
|
|
NC_000011.9:g.(?_116691583)_(121500272_?)dup
|
|
|
NC_000011.9:g.(?_118967698)_(119170501_?)del
|
|
|
NC_000011.9:g.(?_118967708)_(119103425_?)dup
|
|
|
NC_000011.9:g.(?_119077108)_(120133495_?)dup
|
|
|
NC_000011.9:g.(?_119077128)_(119077342_?)del
|
|
|
NC_000011.9:g.(?_119077128)_(119077342_?)dup
|
|
|
NC_000011.9:g.(?_119144558)_(119156296_?)del
|
|
|
NC_000011.9:g.(?_532626)_(534332_?)dup
|
|
|
NC_000011.9:g.(?_532630)_(532761_?)dup
|
|
|
NC_000011.9:g.(?_532631)_(532755_?)dup
|
|
|
NC_000011.9:g.(?_532631)_(534375_?)dup
|
|
|
NC_000011.9:g.(?_532636)_(533328_?)del
|
|
|
NC_000011.9:g.(?_532636)_(533622_?)dup
|
|
|
NC_000011.9:g.(?_532636)_(554276_?)dup
|
|
|
NC_000011.9:g.(?_533443)_(534322_?)dup
|
|
|
NC_000012.11:g.(?_112856896)_(112942588_?)dup
|
|
|
NC_000012.11:g.(?_112856916)_(112942568_?)dup
|
|
|
NC_000012.11:g.(?_112884060)_(112884222_?)del
|
|
|
NC_000012.11:g.(?_112910728)_(113008334_?)del
|
|
|
NC_000012.11:g.(?_112919858)_(112920029_?)del
|
|
|
NC_000012.11:g.(?_25362709)_(25398338_?)dup
|
|
|
NC_000012.11:g.(?_25362729)_(25362865_?)dup
|
|
|
NC_000012.11:g.(?_25362729)_(25398318_?)del
|
|
|
NC_000012.11:g.(?_25362729)_(25398318_?)dup
|
|
|
NC_000012.11:g.(?_25398188)_(25398318_?)dup
|
|
|
NC_000012.12:g.(?_112419092)_(112419145_?)dup
|
|
|
NC_000012.12:g.(?_25209775)_(25209931_?)del
|
|
|
NC_000014.8:g.(?_50585062)_(50585591_?)del
|
|
|
NC_000014.8:g.(?_50641152)_(50778868_?)dup
|
|
|
NC_000014.8:g.(?_50655195)_(50655438_?)dup
|
|
|
NC_000014.9:g.(?_50188487)_(50204419_?)dup
|
|
|
NC_000015.10:g.(?_66387328)_(66444727_?)dup
|
|
|
NC_000015.9:g.(?_38545387)_(38591768_?)dup
|
|
|
NC_000015.9:g.(?_38545387)_(38617020_?)dup
|
|
|
NC_000015.9:g.(?_38591554)_(38643865_?)dup
|
|
|
NC_000015.9:g.(?_66679676)_(66782963_?)dup
|
|
|
NC_000015.9:g.(?_66679686)_(66679785_?)dup
|
|
|
NC_000015.9:g.(?_66774083)_(66782963_?)dup
|
|
|
NC_000017.10:g.(?_29421945)_(29509683_?)dup
|
|
|
NC_000017.10:g.(?_29422048)_(29497025_?)dup
|
|
|
NC_000017.10:g.(?_29422048)_(29510472_?)dup
|
|
|
NC_000017.10:g.(?_29422048)_(29592367_?)dup
|
|
|
NC_000017.10:g.(?_29422055)_(29533409_?)dup
|
|
|
NC_000017.10:g.(?_29422055)_(29552288_?)dup
|
|
|
NC_000017.10:g.(?_29422055)_(29701173_?)dup
|
|
|
NC_000017.10:g.(?_29422308)_(29701193_?)dup
|
|
|
NC_000017.10:g.(?_29422318)_(29422397_?)dup
|
|
|
NC_000017.10:g.(?_29422318)_(29701183_?)dup
|
|
|
NC_000017.10:g.(?_29422322)_(29497021_?)dup
|
|
|
NC_000017.10:g.(?_29422322)_(29592363_?)dup
|
|
|
NC_000017.10:g.(?_29422322)_(29701179_?)dup
|
|
|
NC_000017.10:g.(?_29482991)_(29534143_?)dup
|
|
|
NC_000017.10:g.(?_29540877)_(29542762_?)dup
|
|
|
NC_000017.10:g.(?_29546017)_(29585526_?)dup
|
|
|
NC_000017.10:g.(?_29575992)_(29576147_?)dup
|
|
|
NC_000017.10:g.(?_29575992)_(29592367_?)dup
|
|
|
NC_000017.10:g.(?_29622128)_(29701173_?)dup
|
|
|
NC_000017.10:g.(?_29652818)_(29664918_?)dup
|
|
|
NC_000017.10:g.(?_29663341)_(29665833_?)dup
|
|
|
NC_000017.10:g.(?_29676126)_(29701173_?)dup
|
|
|
NC_000017.10:g.(?_29679265)_(29701183_?)dup
|
|
|
NC_000017.10:g.(?_29687495)_(29701173_?)dup
|
|
|
NC_000017.10:g.(?_29701011)_(29701193_?)dup
|
|
|
NC_000017.10:g.(?_29701021)_(29701183_?)dup
|
|
|
NC_000017.10:g.(?_29701025)_(29701178_?)dup
|
|
|
NC_000017.10:g.(?_29701031)_(29704695_?)dup
|
|
|
NC_000017.11:g.(31082496_31133240)dup
|
|
|
NC_000017.11:g.(?_31095030)_(31104404_?)dup
|
|
|
NC_000017.11:g.(?_31095030)_(31374155_?)dup
|
|
|
NC_000017.11:g.(?_31095300)_(31265349_?)dup
|
|
|
NC_000017.11:g.(?_31159000)_(31182675_?)dup
|
|
|
NC_000017.11:g.(?_31169881)_(31236031_?)dup
|
|
|
NC_000017.11:g.(?_31374003)_(31374155_?)del
|
|
|
NC_000017.11:g.(?_31374003)_(31374155_?)dup
|
|
|
NC_000017.11:g.31221839_31221853A[6]TTCAGGCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAATTCAGGCTC[1]
|
|
|
NC_000017.11:g.31233003_31233008dup
|
|
|
NC_000019.10:g.(?_4077099)_(4102463_?)del
|
|
|
NC_000019.10:g.(?_4097269)_(4097353_?)del
|
|
|
NC_000019.9:g.(?_4077097)_(4123872_?)dup
|
|
|
NC_000019.9:g.(?_4077097)_(4123882_?)dup
|
|
|
NC_000019.9:g.(?_4090596)_(4090726_?)del
|
|
|
NC_000019.9:g.(?_4090596)_(4090726_?)dup
|
|
|
NC_000019.9:g.(?_4090596)_(4102471_?)del
|
|
|
NC_000019.9:g.(?_4094110)_(4102471_?)dup
|
|
|
NC_000019.9:g.(?_4094431)_(4123872_?)del
|
|
|
NC_000019.9:g.(?_4102354)_(4102471_?)del
|
|
|
NC_000019.9:g.(?_4123761)_(4123872_?)del
|
|
|
NM_000267.3(NF1):c.-363T>C
|
rs1911498673
|
|
NM_000267.3(NF1):c.-383_60+?dup443
|
|
|
NM_000267.3(NF1):c.7395-?_*3522+?dup
|
|
|
NM_000268.4(NF2):c.1069G>A (p.Glu357Lys)
|
rs2147072954
|
|
NM_001042492.3(NF1):c.*1425C>T
|
rs886052808
|
|
NM_001042492.3(NF1):c.*1446T>C
|
rs886052809
|
|
NM_001042492.3(NF1):c.*1479A>C
|
rs866235175
|
|
NM_001042492.3(NF1):c.*1987C>T
|
rs886052810
|
|
NM_001042492.3(NF1):c.*2010A>G
|
rs2070728204
|
|
NM_001042492.3(NF1):c.*2132T>C
|
rs551806545
|
|
NM_001042492.3(NF1):c.*2638_*2646delinsTTATG
|
rs886052813
|
|
NM_001042492.3(NF1):c.*2777C>A
|
rs185015732
|
|
NM_001042492.3(NF1):c.*2884T>A
|
rs886052814
|
|
NM_001042492.3(NF1):c.*3174A>C
|
rs886052815
|
|
NM_001042492.3(NF1):c.*3514G>C
|
rs574282086
|
|
NM_001042492.3(NF1):c.*3514G>T
|
rs574282086
|
|
NM_001042492.3(NF1):c.*385C>T
|
rs1597883440
|
|
NM_001042492.3(NF1):c.*584G>C
|
rs190144445
|
|
NM_001042492.3(NF1):c.*584G>T
|
rs190144445
|
|
NM_001042492.3(NF1):c.*585G>A
|
rs372804411
|
|
NM_001042492.3(NF1):c.*859AT[9]
|
rs369548314
|
|
NM_001042492.3(NF1):c.-115T>C
|
rs886052793
|
|
NM_001042492.3(NF1):c.-166T>C
|
rs1911526241
|
|
NM_001042492.3(NF1):c.-173C>G
|
rs886052791
|
|
NM_001042492.3(NF1):c.-237dup
|
rs886052788
|
|
NM_001042492.3(NF1):c.-242dup
|
rs886052787
|
|
NM_001042492.3(NF1):c.-248_-247dup
|
rs886052786
|
|
NM_001042492.3(NF1):c.-265G>C
|
rs1911511473
|
|
NM_001042492.3(NF1):c.-273A>T
|
|
|
NM_001042492.3(NF1):c.-280C>T
|
|
|
NM_001042492.3(NF1):c.-280_-264del
|
rs2143139168
|
|
NM_001042492.3(NF1):c.-322G>A
|
rs886052785
|
|
NM_001042492.3(NF1):c.1000A>C (p.Ile334Leu)
|
|
|
NM_001042492.3(NF1):c.1002C>A (p.Ile334=)
|
|
|
NM_001042492.3(NF1):c.1002C>G (p.Ile334Met)
|
rs2143873647
|
|
NM_001042492.3(NF1):c.1009G>A (p.Glu337Lys)
|
|
|
NM_001042492.3(NF1):c.1017_1061dup (p.Asn339_Leu353dup)
|
rs2143873915
|
|
NM_001042492.3(NF1):c.1018T>G (p.Ser340Ala)
|
rs1567835228
|
|
NM_001042492.3(NF1):c.101T>C (p.Val34Ala)
|
rs1217358160
|
|
NM_001042492.3(NF1):c.101T>G (p.Val34Gly)
|
|
|
NM_001042492.3(NF1):c.1021G>A (p.Val341Ile)
|
rs1555610907
|
|
NM_001042492.3(NF1):c.1021_1038del (p.Val341_Val346del)
|
rs2143874028
|
|
NM_001042492.3(NF1):c.1024A>G (p.Ile342Val)
|
rs2066509214
|
|
NM_001042492.3(NF1):c.1025T>G (p.Ile342Ser)
|
|
|
NM_001042492.3(NF1):c.1029C>A (p.Phe343Leu)
|
rs745914493
|
|
NM_001042492.3(NF1):c.1029C>G (p.Phe343Leu)
|
|
|
NM_001042492.3(NF1):c.1033C>T (p.Leu345Phe)
|
|
|
NM_001042492.3(NF1):c.1036G>A (p.Val346Ile)
|
|
|
NM_001042492.3(NF1):c.1037T>C (p.Val346Ala)
|
rs1597681117
|
|
NM_001042492.3(NF1):c.1039C>G (p.Gln347Glu)
|
rs1555610910
|
|
NM_001042492.3(NF1):c.103A>T (p.Ser35Cys)
|
rs2143625843
|
|
NM_001042492.3(NF1):c.1042T>C (p.Ser348Pro)
|
rs864622064
|
|
NM_001042492.3(NF1):c.1045A>G (p.Met349Val)
|
rs776050648
|
|
NM_001042492.3(NF1):c.104G>A (p.Ser35Asn)
|
rs1060500282
|
|
NM_001042492.3(NF1):c.1050G>A (p.Val350=)
|
|
|
NM_001042492.3(NF1):c.1051G>A (p.Val351Ile)
|
rs1597681173
|
|
NM_001042492.3(NF1):c.1052T>A (p.Val351Asp)
|
rs878853861
|
|
NM_001042492.3(NF1):c.1052T>C (p.Val351Ala)
|
rs878853861
|
|
NM_001042492.3(NF1):c.1057C>G (p.Leu353Val)
|
rs2066510027
|
|
NM_001042492.3(NF1):c.1057C>T (p.Leu353Phe)
|
|
|
NM_001042492.3(NF1):c.1057_1062del (p.Leu353_Lys354del)
|
|
|
NM_001042492.3(NF1):c.1058T>C (p.Leu353Pro)
|
rs2066510063
|
|
NM_001042492.3(NF1):c.1061A>C (p.Lys354Thr)
|
rs1135402801
|
|
NM_001042492.3(NF1):c.1061A>G (p.Lys354Arg)
|
rs1135402801
|
|
NM_001042492.3(NF1):c.1062+3A>C
|
rs1057521098
|
|
NM_001042492.3(NF1):c.1062+3A>G
|
rs1057521098
|
|
NM_001042492.3(NF1):c.1062+3A>T
|
|
|
NM_001042492.3(NF1):c.1062+4A>G
|
rs1243650794
|
|
NM_001042492.3(NF1):c.1062+5C>T
|
rs1555610916
|
|
NM_001042492.3(NF1):c.1062+6A>C
|
rs1060500291
|
|
NM_001042492.3(NF1):c.1062+6A>T
|
|
|
NM_001042492.3(NF1):c.1062_1062+2dup
|
|
|
NM_001042492.3(NF1):c.1069C>A (p.Leu357Ile)
|
rs1567835662
|
|
NM_001042492.3(NF1):c.1069C>G (p.Leu357Val)
|
rs1567835662
|
|
NM_001042492.3(NF1):c.1069C>T (p.Leu357Phe)
|
rs1567835662
|
|
NM_001042492.3(NF1):c.106A>C (p.Thr36Pro)
|
|
|
NM_001042492.3(NF1):c.1070T>G (p.Leu357Arg)
|
rs137854563
|
|
NM_001042492.3(NF1):c.1073T>A (p.Phe358Tyr)
|
rs2066518753
|
|
NM_001042492.3(NF1):c.1073T>C (p.Phe358Ser)
|
rs2066518753
|
|
NM_001042492.3(NF1):c.1076A>G (p.Asn359Ser)
|
|
|
NM_001042492.3(NF1):c.1076A>T (p.Asn359Ile)
|
rs2143878548
|
|
NM_001042492.3(NF1):c.1077T>A (p.Asn359Lys)
|
rs2066518822
|
|
NM_001042492.3(NF1):c.1078C>A (p.Pro360Thr)
|
rs1597681902
|
|
NM_001042492.3(NF1):c.1078C>T (p.Pro360Ser)
|
rs1597681902
|
|
NM_001042492.3(NF1):c.107C>T (p.Thr36Ile)
|
rs199966218
|
|
NM_001042492.3(NF1):c.1081A>G (p.Ser361Gly)
|
|
|
NM_001042492.3(NF1):c.1084A>G (p.Lys362Glu)
|
rs2066519027
|
|
NM_001042492.3(NF1):c.1093T>C (p.Ser365Pro)
|
rs2143878749
|
|
NM_001042492.3(NF1):c.1094C>T (p.Ser365Leu)
|
|
|
NM_001042492.3(NF1):c.1096A>G (p.Arg366Gly)
|
|
|
NM_001042492.3(NF1):c.109G>A (p.Glu37Lys)
|
rs2143625963
|
|
NM_001042492.3(NF1):c.10C>A (p.His4Asn)
|
rs1911551060
|
|
NM_001042492.3(NF1):c.10C>T (p.His4Tyr)
|
rs1911551060
|
|
NM_001042492.3(NF1):c.1102A>T (p.Ser368Cys)
|
|
|
NM_001042492.3(NF1):c.1103G>A (p.Ser368Asn)
|
rs1597681975
|
|
NM_001042492.3(NF1):c.1108C>T (p.Pro370Ser)
|
rs878853862
|
|
NM_001042492.3(NF1):c.1112C>T (p.Ala371Val)
|
rs1597681991
|
|
NM_001042492.3(NF1):c.1115A>T (p.Asp372Val)
|
rs2066519935
|
|
NM_001042492.3(NF1):c.1117G>A (p.Val373Met)
|
|
|
NM_001042492.3(NF1):c.1118T>C (p.Val373Ala)
|
rs1597682016
|
|
NM_001042492.3(NF1):c.1120G>A (p.Asp374Asn)
|
rs876658666
|
|
NM_001042492.3(NF1):c.1123C>G (p.Leu375Val)
|
|
|
NM_001042492.3(NF1):c.1128G>A (p.Met376Ile)
|
rs2143879572
|
|
NM_001042492.3(NF1):c.1129A>G (p.Ile377Val)
|
rs2143879598
|
|
NM_001042492.3(NF1):c.1129A>T (p.Ile377Phe)
|
rs2143879598
|
|
NM_001042492.3(NF1):c.1134C>G (p.Asp378Glu)
|
rs781367679
|
|
NM_001042492.3(NF1):c.1138C>G (p.Leu380Val)
|
|
|
NM_001042492.3(NF1):c.1139T>G (p.Leu380Arg)
|
rs1555611004
|
|
NM_001042492.3(NF1):c.1141G>T (p.Val381Phe)
|
rs876660276
|
|
NM_001042492.3(NF1):c.1144T>C (p.Ser382Pro)
|
rs2066520625
|
|
NM_001042492.3(NF1):c.1145C>T (p.Ser382Phe)
|
rs1555611016
|
|
NM_001042492.3(NF1):c.1147T>A (p.Cys383Ser)
|
|
|
NM_001042492.3(NF1):c.1148G>T (p.Cys383Phe)
|
rs1597682085
|
|
NM_001042492.3(NF1):c.1153C>A (p.Arg385Ser)
|
|
|
NM_001042492.3(NF1):c.1154G>A (p.Arg385His)
|
rs1350329837
|
|
NM_001042492.3(NF1):c.1157T>C (p.Ile386Thr)
|
rs2143880084
|
|
NM_001042492.3(NF1):c.1160G>A (p.Ser387Asn)
|
rs1555611025
|
|
NM_001042492.3(NF1):c.1162C>T (p.Pro388Ser)
|
rs2143880229
|
|
NM_001042492.3(NF1):c.116A>G (p.Asn39Ser)
|
rs1567814494
|
|
NM_001042492.3(NF1):c.116A>T (p.Asn39Ile)
|
rs1567814494
|
|
NM_001042492.3(NF1):c.1172A>G (p.Asn391Ser)
|
|
|
NM_001042492.3(NF1):c.1175A>G (p.Gln392Arg)
|
|
|
NM_001042492.3(NF1):c.1177C>T (p.His393Tyr)
|
rs199474768
|
|
NM_001042492.3(NF1):c.1178A>G (p.His393Arg)
|
rs199474769
|
|
NM_001042492.3(NF1):c.1179C>A (p.His393Gln)
|
|
|
NM_001042492.3(NF1):c.1182T>A (p.Phe394Leu)
|
|
|
NM_001042492.3(NF1):c.1182T>G (p.Phe394Leu)
|
rs786202581
|
|
NM_001042492.3(NF1):c.1183A>C (p.Lys395Gln)
|
rs770767889
|
|
NM_001042492.3(NF1):c.1183A>G (p.Lys395Glu)
|
rs770767889
|
|
NM_001042492.3(NF1):c.1185+20T>G
|
rs2066522265
|
|
NM_001042492.3(NF1):c.1185+5G>A
|
rs1597682182
|
|
NM_001042492.3(NF1):c.1185+6A>G
|
|
|
NM_001042492.3(NF1):c.1185+6A>T
|
|
|
NM_001042492.3(NF1):c.1185+7G>C
|
rs1322791959
|
|
NM_001042492.3(NF1):c.1186-3T>C
|
rs2066527385
|
|
NM_001042492.3(NF1):c.1186A>C (p.Ile396Leu)
|
rs1413735911
|
|
NM_001042492.3(NF1):c.1187T>A (p.Ile396Asn)
|
rs2143885518
|
|
NM_001042492.3(NF1):c.1187T>G (p.Ile396Ser)
|
|
|
NM_001042492.3(NF1):c.1190G>A (p.Cys397Tyr)
|
|
|
NM_001042492.3(NF1):c.1198C>G (p.Gln400Glu)
|
|
|
NM_001042492.3(NF1):c.1199A>G (p.Gln400Arg)
|
rs2143885791
|
|
NM_001042492.3(NF1):c.119A>G (p.Lys40Arg)
|
|
|
NM_001042492.3(NF1):c.1200G>C (p.Gln400His)
|
rs2066527837
|
|
NM_001042492.3(NF1):c.1204T>G (p.Ser402Ala)
|
rs2143885887
|
|
NM_001042492.3(NF1):c.1207C>A (p.Pro403Thr)
|
rs2066527867
|
|
NM_001042492.3(NF1):c.1207C>T (p.Pro403Ser)
|
rs2066527867
|
|
NM_001042492.3(NF1):c.1208C>T (p.Pro403Leu)
|
|
|
NM_001042492.3(NF1):c.120G>C (p.Lys40Asn)
|
rs2065656004
|
|
NM_001042492.3(NF1):c.1213A>T (p.Thr405Ser)
|
|
|
NM_001042492.3(NF1):c.1214C>T (p.Thr405Ile)
|
rs1555611082
|
|
NM_001042492.3(NF1):c.1216T>C (p.Phe406Leu)
|
|
|
NM_001042492.3(NF1):c.1222T>G (p.Tyr408Asp)
|
rs2066528210
|
|
NM_001042492.3(NF1):c.1225G>A (p.Val409Met)
|
rs2143886228
|
|
NM_001042492.3(NF1):c.1226T>A (p.Val409Glu)
|
rs876660378
|
|
NM_001042492.3(NF1):c.1229T>G (p.Leu410Arg)
|
rs1376759287
|
|
NM_001042492.3(NF1):c.122A>C (p.Glu41Ala)
|
rs786203038
|
|
NM_001042492.3(NF1):c.1231G>A (p.Val411Ile)
|
rs199703072
|
|
NM_001042492.3(NF1):c.1231G>C (p.Val411Leu)
|
|
|
NM_001042492.3(NF1):c.1234A>T (p.Asn412Tyr)
|
rs2143886448
|
|
NM_001042492.3(NF1):c.1235A>G (p.Asn412Ser)
|
rs1567836090
|
|
NM_001042492.3(NF1):c.1241T>C (p.Leu414Pro)
|
|
|
NM_001042492.3(NF1):c.1244A>G (p.His415Arg)
|
rs1555611097
|
|
NM_001042492.3(NF1):c.1246C>G (p.Arg416Gly)
|
|
|
NM_001042492.3(NF1):c.1247G>C (p.Arg416Pro)
|
|
|
NM_001042492.3(NF1):c.1252A>G (p.Ile418Val)
|
rs1597682898
|
|
NM_001042492.3(NF1):c.1258A>C (p.Asn420His)
|
rs2066529281
|
|
NM_001042492.3(NF1):c.1259A>G (p.Asn420Ser)
|
rs1555611107
|
|
NM_001042492.3(NF1):c.125G>A (p.Cys42Tyr)
|
rs2143626240
|
|
NM_001042492.3(NF1):c.1260+15T>C
|
|
|
NM_001042492.3(NF1):c.1260+4A>G
|
rs2066529521
|
|
NM_001042492.3(NF1):c.1260+4A>T
|
rs2066529521
|
|
NM_001042492.3(NF1):c.1260+5G>T
|
rs1060500253
|
|
NM_001042492.3(NF1):c.1260+6T>A
|
|
|
NM_001042492.3(NF1):c.1260+6T>C
|
rs1555611111
|
|
NM_001042492.3(NF1):c.1260+6T>G
|
rs1555611111
|
|
NM_001042492.3(NF1):c.1260T>C (p.Asn420=)
|
rs2143887054
|
|
NM_001042492.3(NF1):c.1261-20T>A
|
rs2143913090
|
|
NM_001042492.3(NF1):c.1261-3T>A
|
rs761761583
|
|
NM_001042492.3(NF1):c.1261T>A (p.Ser421Thr)
|
rs878853864
|
|
NM_001042492.3(NF1):c.1261T>G (p.Ser421Ala)
|
rs878853864
|
|
NM_001042492.3(NF1):c.1262C>T (p.Ser421Phe)
|
|
|
NM_001042492.3(NF1):c.1263C>A (p.Ser421=)
|
rs767410768
|
|
NM_001042492.3(NF1):c.1264G>T (p.Ala422Ser)
|
rs786202145
|
|
NM_001042492.3(NF1):c.1265C>T (p.Ala422Val)
|
rs2143913535
|
|
NM_001042492.3(NF1):c.1270G>A (p.Asp424Asn)
|
rs2066619067
|
|
NM_001042492.3(NF1):c.1274G>C (p.Trp425Ser)
|
rs1597688734
|
|
NM_001042492.3(NF1):c.1280C>T (p.Pro427Leu)
|
rs1597688746
|
|
NM_001042492.3(NF1):c.1286T>C (p.Ile429Thr)
|
rs2143913858
|
|
NM_001042492.3(NF1):c.1289A>T (p.Asp430Val)
|
|
|
NM_001042492.3(NF1):c.128T>G (p.Leu43Arg)
|
|
|
NM_001042492.3(NF1):c.1291G>A (p.Ala431Thr)
|
rs2066619337
|
|
NM_001042492.3(NF1):c.1291G>T (p.Ala431Ser)
|
|
|
NM_001042492.3(NF1):c.1295T>C (p.Val432Ala)
|
rs866238485
|
|
NM_001042492.3(NF1):c.129_131del (p.Ile44del)
|
rs1597625973
|
|
NM_001042492.3(NF1):c.1304A>G (p.His435Arg)
|
rs1555611571
|
|
NM_001042492.3(NF1):c.1305C>A (p.His435Gln)
|
|
|
NM_001042492.3(NF1):c.1307C>T (p.Ser436Leu)
|
rs755190083
|
|
NM_001042492.3(NF1):c.1309G>T (p.Val437Phe)
|
rs1555611574
|
|
NM_001042492.3(NF1):c.130A>G (p.Ile44Val)
|
rs1597625982
|
|
NM_001042492.3(NF1):c.1310T>A (p.Val437Asp)
|
rs876658642
|
|
NM_001042492.3(NF1):c.1310T>C (p.Val437Ala)
|
rs876658642
|
|
NM_001042492.3(NF1):c.131T>A (p.Ile44Asn)
|
|
|
NM_001042492.3(NF1):c.1321A>G (p.Asn441Asp)
|
rs2066620307
|
|
NM_001042492.3(NF1):c.1324A>G (p.Met442Val)
|
rs2066620431
|
|
NM_001042492.3(NF1):c.1326G>A (p.Met442Ile)
|
|
|
NM_001042492.3(NF1):c.1328T>C (p.Phe443Ser)
|
rs1555611581
|
|
NM_001042492.3(NF1):c.132C>G (p.Ile44Met)
|
|
|
NM_001042492.3(NF1):c.1330G>A (p.Gly444Ser)
|
|
|
NM_001042492.3(NF1):c.1330G>C (p.Gly444Arg)
|
rs1162173842
|
|
NM_001042492.3(NF1):c.1331G>A (p.Gly444Asp)
|
rs1555611582
|
|
NM_001042492.3(NF1):c.1331G>C (p.Gly444Ala)
|
|
|
NM_001042492.3(NF1):c.1336A>G (p.Thr446Ala)
|
|
|
NM_001042492.3(NF1):c.1339C>G (p.Leu447Val)
|
rs2066620866
|
|
NM_001042492.3(NF1):c.1342C>A (p.His448Asn)
|
|
|
NM_001042492.3(NF1):c.1343A>G (p.His448Arg)
|
|
|
NM_001042492.3(NF1):c.1347A>C (p.Lys449Asn)
|
rs2143914827
|
|
NM_001042492.3(NF1):c.1348G>A (p.Ala450Thr)
|
rs2143914842
|
|
NM_001042492.3(NF1):c.134A>C (p.Asn45Thr)
|
|
|
NM_001042492.3(NF1):c.1352T>C (p.Val451Ala)
|
rs747466938
|
|
NM_001042492.3(NF1):c.1352T>G (p.Val451Gly)
|
rs747466938
|
|
NM_001042492.3(NF1):c.1355A>T (p.Gln452Leu)
|
rs2066621372
|
|
NM_001042492.3(NF1):c.1356A>C (p.Gln452His)
|
rs1324833228
|
|
NM_001042492.3(NF1):c.1358G>A (p.Gly453Asp)
|
rs876660915
|
|
NM_001042492.3(NF1):c.1358G>T (p.Gly453Val)
|
rs876660915
|
|
NM_001042492.3(NF1):c.1361G>A (p.Cys454Tyr)
|
rs983914251
|
|
NM_001042492.3(NF1):c.1363_1364delinsAA (p.Gly455Lys)
|
|
|
NM_001042492.3(NF1):c.1364G>A (p.Gly455Glu)
|
|
|
NM_001042492.3(NF1):c.1364G>T (p.Gly455Val)
|
|
|
NM_001042492.3(NF1):c.1367C>T (p.Ala456Val)
|
rs1597688962
|
|
NM_001042492.3(NF1):c.1369C>G (p.His457Asp)
|
|
|
NM_001042492.3(NF1):c.1370A>T (p.His457Leu)
|
rs786202763
|
|
NM_001042492.3(NF1):c.1370_1372del (p.His457del)
|
rs1567838357
|
|
NM_001042492.3(NF1):c.1371C>A (p.His457Gln)
|
rs1318894606
|
|
NM_001042492.3(NF1):c.1371C>G (p.His457Gln)
|
|
|
NM_001042492.3(NF1):c.1372C>G (p.Pro458Ala)
|
rs1597688990
|
|
NM_001042492.3(NF1):c.1373C>A (p.Pro458Gln)
|
rs781555047
|
|
NM_001042492.3(NF1):c.1373C>T (p.Pro458Leu)
|
rs781555047
|
|
NM_001042492.3(NF1):c.1376C>A (p.Ala459Glu)
|
rs1131691070
|
|
NM_001042492.3(NF1):c.1376C>T (p.Ala459Val)
|
rs1131691070
|
|
NM_001042492.3(NF1):c.1378A>G (p.Ile460Val)
|
|
|
NM_001042492.3(NF1):c.1379T>C (p.Ile460Thr)
|
rs147417054
|
|
NM_001042492.3(NF1):c.1380A>G (p.Ile460Met)
|
|
|
NM_001042492.3(NF1):c.1382G>A (p.Arg461Gln)
|
rs1555611606
|
|
NM_001042492.3(NF1):c.1384A>G (p.Met462Val)
|
|
|
NM_001042492.3(NF1):c.1387G>A (p.Ala463Thr)
|
|
|
NM_001042492.3(NF1):c.1387G>C (p.Ala463Pro)
|
rs1555611607
|
|
NM_001042492.3(NF1):c.1388C>T (p.Ala463Val)
|
|
|
NM_001042492.3(NF1):c.1390C>T (p.Pro464Ser)
|
|
|
NM_001042492.3(NF1):c.1391C>A (p.Pro464Gln)
|
rs1269425503
|
|
NM_001042492.3(NF1):c.1391C>T (p.Pro464Leu)
|
rs1269425503
|
|
NM_001042492.3(NF1):c.1392+4A>G
|
rs1555611611
|
|
NM_001042492.3(NF1):c.1392+5G>A
|
rs199999754
|
|
NM_001042492.3(NF1):c.1392+5_1392+6delinsTT
|
rs587782851
|
|
NM_001042492.3(NF1):c.1392G>T (p.Pro464=)
|
rs201604273
|
|
NM_001042492.3(NF1):c.1393-1555C>G
|
|
|
NM_001042492.3(NF1):c.1393-2dup
|
rs1394021280
|
|
NM_001042492.3(NF1):c.1393A>G (p.Ser465Gly)
|
|
|
NM_001042492.3(NF1):c.1394G>A (p.Ser465Asn)
|
|
|
NM_001042492.3(NF1):c.1396C>G (p.Leu466Val)
|
rs2143958637
|
|
NM_001042492.3(NF1):c.1399A>C (p.Thr467Pro)
|
|
|
NM_001042492.3(NF1):c.13A>G (p.Arg5Gly)
|
rs1598173775
|
|
NM_001042492.3(NF1):c.1400C>T (p.Thr467Ile)
|
rs1567841729
|
|
NM_001042492.3(NF1):c.1405A>G (p.Lys469Glu)
|
rs1555612271
|
|
NM_001042492.3(NF1):c.1406A>G (p.Lys469Arg)
|
rs2066785596
|
|
NM_001042492.3(NF1):c.1407A>C (p.Lys469Asn)
|
|
|
NM_001042492.3(NF1):c.1409A>G (p.Glu470Gly)
|
|
|
NM_001042492.3(NF1):c.1414_1440dup (p.Val472_Lys480dup)
|
rs1597698326
|
|
NM_001042492.3(NF1):c.1418C>T (p.Thr473Ile)
|
rs2143958993
|
|
NM_001042492.3(NF1):c.1421G>A (p.Ser474Asn)
|
rs2066785879
|
|
NM_001042492.3(NF1):c.1421G>C (p.Ser474Thr)
|
rs2066785879
|
|
NM_001042492.3(NF1):c.1423C>G (p.Leu475Val)
|
|
|
NM_001042492.3(NF1):c.1429T>C (p.Phe477Leu)
|
rs1555612276
|
|
NM_001042492.3(NF1):c.1431T>A (p.Phe477Leu)
|
rs1555612278
|
|
NM_001042492.3(NF1):c.1432A>G (p.Lys478Glu)
|
|
|
NM_001042492.3(NF1):c.143A>C (p.Lys48Thr)
|
rs1555604902
|
|
NM_001042492.3(NF1):c.1445C>T (p.Thr482Ile)
|
rs1004943800
|
|
NM_001042492.3(NF1):c.1456A>T (p.Thr486Ser)
|
rs1060500305
|
|
NM_001042492.3(NF1):c.1457C>T (p.Thr486Ile)
|
rs1019393337
|
|
NM_001042492.3(NF1):c.1460G>A (p.Arg487Lys)
|
rs1135402809
|
|
NM_001042492.3(NF1):c.1463G>A (p.Ser488Asn)
|
rs2066786622
|
|
NM_001042492.3(NF1):c.1465T>C (p.Tyr489His)
|
rs2066786672
|
|
NM_001042492.3(NF1):c.1465T>G (p.Tyr489Asp)
|
rs2066786672
|
|
NM_001042492.3(NF1):c.1465_1466insGGAGACAAGAAGAGA (p.Tyr489delinsTrpArgGlnGluGluAsn)
|
|
|
NM_001042492.3(NF1):c.1466A>C (p.Tyr489Ser)
|
|
|
NM_001042492.3(NF1):c.1468A>G (p.Lys490Glu)
|
rs1181298067
|
|
NM_001042492.3(NF1):c.1469A>G (p.Lys490Arg)
|
rs1060500260
|
|
NM_001042492.3(NF1):c.1469A>T (p.Lys490Met)
|
|
|
NM_001042492.3(NF1):c.146A>T (p.Tyr49Phe)
|
|
|
NM_001042492.3(NF1):c.1471T>A (p.Tyr491Asn)
|
rs2143959726
|
|
NM_001042492.3(NF1):c.1477C>G (p.Leu493Val)
|
rs1135402812
|
|
NM_001042492.3(NF1):c.1480T>A (p.Leu494Met)
|
rs878853867
|
|
NM_001042492.3(NF1):c.1481T>C (p.Leu494Ser)
|
|
|
NM_001042492.3(NF1):c.1482G>T (p.Leu494Phe)
|
|
|
NM_001042492.3(NF1):c.1482_1499del (p.Leu494_Ile500delinsPhe)
|
rs2143959924
|
|
NM_001042492.3(NF1):c.1486A>T (p.Met496Leu)
|
|
|
NM_001042492.3(NF1):c.1493A>G (p.Lys498Arg)
|
|
|
NM_001042492.3(NF1):c.1496T>C (p.Leu499Pro)
|
rs1555612288
|
|
NM_001042492.3(NF1):c.1499T>A (p.Ile500Asn)
|
rs2066787362
|
|
NM_001042492.3(NF1):c.149A>G (p.Lys50Arg)
|
rs1555604907
|
|
NM_001042492.3(NF1):c.14G>C (p.Arg5Thr)
|
|
|
NM_001042492.3(NF1):c.150G>C (p.Lys50Asn)
|
rs1597626037
|
|
NM_001042492.3(NF1):c.1510C>A (p.Pro504Thr)
|
rs1597698495
|
|
NM_001042492.3(NF1):c.1510C>G (p.Pro504Ala)
|
|
|
NM_001042492.3(NF1):c.1510_1524del (p.Pro504_Leu508del)
|
rs2143960475
|
|
NM_001042492.3(NF1):c.1517T>G (p.Leu506Arg)
|
|
|
NM_001042492.3(NF1):c.1522C>T (p.Leu508Phe)
|
rs1597698512
|
|
NM_001042492.3(NF1):c.1526G>A (p.Cys509Tyr)
|
rs1597698521
|
|
NM_001042492.3(NF1):c.1527+2dup
|
rs1597698533
|
|
NM_001042492.3(NF1):c.1527+3A>C
|
rs2066788106
|
|
NM_001042492.3(NF1):c.1527+5G>A
|
rs1060500352
|
|
NM_001042492.3(NF1):c.1527+5G>C
|
rs1060500352
|
|
NM_001042492.3(NF1):c.1527T>C (p.Cys509=)
|
|
|
NM_001042492.3(NF1):c.1528-1G>T
|
rs876660595
|
|
NM_001042492.3(NF1):c.1528-3C>T
|
rs1060500294
|
|
NM_001042492.3(NF1):c.1529A>C (p.Asn510Thr)
|
rs876660091
|
|
NM_001042492.3(NF1):c.1529A>G (p.Asn510Ser)
|
rs876660091
|
|
NM_001042492.3(NF1):c.1541A>G (p.Gln514Arg)
|
rs775369084
|
|
NM_001042492.3(NF1):c.1543G>A (p.Gly515Arg)
|
|
|
NM_001042492.3(NF1):c.1544G>A (p.Gly515Glu)
|
rs2143985792
|
|
NM_001042492.3(NF1):c.1546C>T (p.Pro516Ser)
|
|
|
NM_001042492.3(NF1):c.1547C>G (p.Pro516Arg)
|
|
|
NM_001042492.3(NF1):c.1547C>T (p.Pro516Leu)
|
|
|
NM_001042492.3(NF1):c.1559G>A (p.Gly520Asp)
|
|
|
NM_001042492.3(NF1):c.1568C>A (p.Ala523Glu)
|
rs2143986218
|
|
NM_001042492.3(NF1):c.1570G>A (p.Glu524Lys)
|
|
|
NM_001042492.3(NF1):c.1571A>G (p.Glu524Gly)
|
|
|
NM_001042492.3(NF1):c.1579A>T (p.Thr527Ser)
|
rs1567843874
|
|
NM_001042492.3(NF1):c.1582G>A (p.Gly528Arg)
|
rs2143986428
|
|
NM_001042492.3(NF1):c.1582G>T (p.Gly528Trp)
|
rs2143986428
|
|
NM_001042492.3(NF1):c.1586T>A (p.Leu529His)
|
|
|
NM_001042492.3(NF1):c.1593A>C (p.Gln531His)
|
rs773712266
|
|
NM_001042492.3(NF1):c.1595T>C (p.Leu532Pro)
|
rs199474737
|
|
NM_001042492.3(NF1):c.1598T>A (p.Val533Asp)
|
|
|
NM_001042492.3(NF1):c.15G>T (p.Arg5Ser)
|
rs1567786804
|
|
NM_001042492.3(NF1):c.1600C>T (p.Pro534Ser)
|
rs1555612858
|
|
NM_001042492.3(NF1):c.1601C>G (p.Pro534Arg)
|
|
|
NM_001042492.3(NF1):c.1607C>T (p.Ser536Leu)
|
rs1555612859
|
|
NM_001042492.3(NF1):c.1609C>T (p.His537Tyr)
|
rs786203860
|
|
NM_001042492.3(NF1):c.160G>A (p.Val54Ile)
|
rs1060500330
|
|
NM_001042492.3(NF1):c.160G>T (p.Val54Phe)
|
rs1060500330
|
|
NM_001042492.3(NF1):c.1615C>G (p.Pro539Ala)
|
rs1060500366
|
|
NM_001042492.3(NF1):c.1627C>G (p.Gln543Glu)
|
|
|
NM_001042492.3(NF1):c.1629G>C (p.Gln543His)
|
rs2143987265
|
|
NM_001042492.3(NF1):c.1630G>A (p.Glu544Lys)
|
|
|
NM_001042492.3(NF1):c.1631A>C (p.Glu544Ala)
|
|
|
NM_001042492.3(NF1):c.1633G>C (p.Ala545Pro)
|
rs1567843945
|
|
NM_001042492.3(NF1):c.1633G>T (p.Ala545Ser)
|
|
|
NM_001042492.3(NF1):c.1633_1634delinsAA (p.Ala545Lys)
|
rs2143987303
|
|
NM_001042492.3(NF1):c.1634C>T (p.Ala545Val)
|
|
|
NM_001042492.3(NF1):c.1636A>G (p.Met546Val)
|
rs2066877456
|
|
NM_001042492.3(NF1):c.1640_1641+1del
|
rs2143987443
|
|
NM_001042492.3(NF1):c.1641+12A>G
|
|
|
NM_001042492.3(NF1):c.1641+4A>C
|
rs1597703610
|
|
NM_001042492.3(NF1):c.1641+5G>C
|
rs2066878047
|
|
NM_001042492.3(NF1):c.1641G>A (p.Glu547=)
|
|
|
NM_001042492.3(NF1):c.1642-3C>T
|
rs1597706610
|
|
NM_001042492.3(NF1):c.1642-9A>G
|
rs1597706581
|
|
NM_001042492.3(NF1):c.1642G>C (p.Ala548Pro)
|
|
|
NM_001042492.3(NF1):c.1642G>T (p.Ala548Ser)
|
rs2066927450
|
|
NM_001042492.3(NF1):c.1643C>T (p.Ala548Val)
|
rs1567844997
|
|
NM_001042492.3(NF1):c.1649T>C (p.Leu550Pro)
|
rs886052798
|
|
NM_001042492.3(NF1):c.164T>A (p.Ile55Lys)
|
rs2065657050
|
|
NM_001042492.3(NF1):c.1652T>C (p.Val551Ala)
|
rs113867817
|
|
NM_001042492.3(NF1):c.1652T>G (p.Val551Gly)
|
|
|
NM_001042492.3(NF1):c.1655T>C (p.Leu552Pro)
|
rs1555613193
|
|
NM_001042492.3(NF1):c.1655T>G (p.Leu552Arg)
|
rs1555613193
|
|
NM_001042492.3(NF1):c.1657C>T (p.His553Tyr)
|
|
|
NM_001042492.3(NF1):c.1661A>G (p.Gln554Arg)
|
rs863224656
|
|
NM_001042492.3(NF1):c.1663T>G (p.Leu555Val)
|
|
|
NM_001042492.3(NF1):c.1667A>G (p.Asp556Gly)
|
rs2144004099
|
|
NM_001042492.3(NF1):c.1669A>G (p.Ser557Gly)
|
|
|
NM_001042492.3(NF1):c.166A>G (p.Ser56Gly)
|
rs751891720
|
|
NM_001042492.3(NF1):c.1670G>A (p.Ser557Asn)
|
rs1567845046
|
|
NM_001042492.3(NF1):c.1672A>G (p.Ile558Val)
|
rs2066928417
|
|
NM_001042492.3(NF1):c.1673T>C (p.Ile558Thr)
|
rs2144004218
|
|
NM_001042492.3(NF1):c.1675G>A (p.Asp559Asn)
|
rs2144004244
|
|
NM_001042492.3(NF1):c.1675G>T (p.Asp559Tyr)
|
|
|
NM_001042492.3(NF1):c.1677T>A (p.Asp559Glu)
|
rs1209447028
|
|
NM_001042492.3(NF1):c.1677T>G (p.Asp559Glu)
|
|
|
NM_001042492.3(NF1):c.1687C>T (p.Pro563Ser)
|
rs2066928705
|
|
NM_001042492.3(NF1):c.1690G>A (p.Asp564Asn)
|
rs2144004484
|
|
NM_001042492.3(NF1):c.1690G>T (p.Asp564Tyr)
|
rs2144004484
|
|
NM_001042492.3(NF1):c.1692T>G (p.Asp564Glu)
|
rs1597706718
|
|
NM_001042492.3(NF1):c.1693G>A (p.Ala565Thr)
|
|
|
NM_001042492.3(NF1):c.1696C>G (p.Pro566Ala)
|
rs2066928875
|
|
NM_001042492.3(NF1):c.1697C>T (p.Pro566Leu)
|
|
|
NM_001042492.3(NF1):c.1699G>A (p.Val567Ile)
|
rs1555613200
|
|
NM_001042492.3(NF1):c.169G>T (p.Gly57Cys)
|
rs779727341
|
|
NM_001042492.3(NF1):c.1700T>C (p.Val567Ala)
|
rs2144004648
|
|
NM_001042492.3(NF1):c.1703A>G (p.Glu568Gly)
|
rs1597706730
|
|
NM_001042492.3(NF1):c.1705A>G (p.Thr569Ala)
|
|
|
NM_001042492.3(NF1):c.170G>A (p.Gly57Asp)
|
rs1555604925
|
|
NM_001042492.3(NF1):c.170G>T (p.Gly57Val)
|
|
|
NM_001042492.3(NF1):c.1711T>A (p.Trp571Arg)
|
rs2144004785
|
|
NM_001042492.3(NF1):c.1714_1721+5del
|
rs1135402821
|
|
NM_001042492.3(NF1):c.1716G>T (p.Glu572Asp)
|
rs2066929357
|
|
NM_001042492.3(NF1):c.1717A>C (p.Ile573Leu)
|
rs1597706766
|
|
NM_001042492.3(NF1):c.1717A>G (p.Ile573Val)
|
rs1597706766
|
|
NM_001042492.3(NF1):c.1719T>G (p.Ile573Met)
|
rs2144004922
|
|
NM_001042492.3(NF1):c.1720A>C (p.Ser574Arg)
|
rs2066929440
|
|
NM_001042492.3(NF1):c.1721+4T>A
|
rs766836356
|
|
NM_001042492.3(NF1):c.1721+542A>G
|
rs2066942173
|
|
NM_001042492.3(NF1):c.1721+6T>C
|
rs2144005065
|
|
NM_001042492.3(NF1):c.1722-14_1722-5del
|
rs2144015153
|
|
NM_001042492.3(NF1):c.1722-3C>A
|
rs770211384
|
|
NM_001042492.3(NF1):c.1722-3C>T
|
|
|
NM_001042492.3(NF1):c.1722-5_1765dup
|
|
|
NM_001042492.3(NF1):c.1722-8T>G
|
|
|
NM_001042492.3(NF1):c.1722-9T>G
|
rs1567845805
|
|
NM_001042492.3(NF1):c.1722C>G (p.Ser574Arg)
|
rs2144015494
|
|
NM_001042492.3(NF1):c.1727A>G (p.Gln576Arg)
|
|
|
NM_001042492.3(NF1):c.172C>T (p.Leu58Phe)
|
rs2065657352
|
|
NM_001042492.3(NF1):c.1731G>A (p.Met577Ile)
|
|
|
NM_001042492.3(NF1):c.1735T>C (p.Phe579Leu)
|
rs2066962078
|
|
NM_001042492.3(NF1):c.1741A>C (p.Ile581Leu)
|
|
|
NM_001042492.3(NF1):c.1741A>G (p.Ile581Val)
|
rs2066962216
|
|
NM_001042492.3(NF1):c.1743C>G (p.Ile581Met)
|
|
|
NM_001042492.3(NF1):c.1744T>C (p.Cys582Arg)
|
rs1597708661
|
|
NM_001042492.3(NF1):c.1744T>G (p.Cys582Gly)
|
rs1597708661
|
|
NM_001042492.3(NF1):c.1745G>C (p.Cys582Ser)
|
rs2066962321
|
|
NM_001042492.3(NF1):c.1746C>G (p.Cys582Trp)
|
rs2066962353
|
|
NM_001042492.3(NF1):c.1747A>G (p.Lys583Glu)
|
|
|
NM_001042492.3(NF1):c.174C>T (p.Leu58=)
|
rs2065657421
|
|
NM_001042492.3(NF1):c.1751A>T (p.Lys584Ile)
|
rs1567845855
|
|
NM_001042492.3(NF1):c.1755A>C (p.Leu585Phe)
|
|
|
NM_001042492.3(NF1):c.1756A>G (p.Thr586Ala)
|
rs876659242
|
|
NM_001042492.3(NF1):c.1759A>C (p.Ser587Arg)
|
rs1597708695
|
|
NM_001042492.3(NF1):c.1759A>G (p.Ser587Gly)
|
rs1597708695
|
|
NM_001042492.3(NF1):c.175A>G (p.Thr59Ala)
|
rs1567814586
|
|
NM_001042492.3(NF1):c.175A>T (p.Thr59Ser)
|
rs1567814586
|
|
NM_001042492.3(NF1):c.1762C>A (p.His588Asn)
|
rs2066962798
|
|
NM_001042492.3(NF1):c.1765C>A (p.Gln589Lys)
|
rs1282299543
|
|
NM_001042492.3(NF1):c.1767A>C (p.Gln589His)
|
|
|
NM_001042492.3(NF1):c.1767A>T (p.Gln589His)
|
|
|
NM_001042492.3(NF1):c.1770G>C (p.Met590Ile)
|
rs2144016315
|
|
NM_001042492.3(NF1):c.1771C>G (p.Leu591Val)
|
rs767247726
|
|
NM_001042492.3(NF1):c.1775G>A (p.Ser592Asn)
|
rs760256377
|
|
NM_001042492.3(NF1):c.1778G>A (p.Ser593Asn)
|
rs2066963100
|
|
NM_001042492.3(NF1):c.1780A>G (p.Thr594Ala)
|
rs1555613419
|
|
NM_001042492.3(NF1):c.1788T>G (p.Ile596Met)
|
rs2066963288
|
|
NM_001042492.3(NF1):c.1789C>T (p.Leu597Phe)
|
rs2066963329
|
|
NM_001042492.3(NF1):c.1791C>T (p.Leu597=)
|
|
|
NM_001042492.3(NF1):c.1793A>C (p.Lys598Thr)
|
rs2066963397
|
|
NM_001042492.3(NF1):c.1793A>G (p.Lys598Arg)
|
rs2066963397
|
|
NM_001042492.3(NF1):c.1795T>C (p.Trp599Arg)
|
|
|
NM_001042492.3(NF1):c.179C>G (p.Thr60Ser)
|
rs1007047958
|
|
NM_001042492.3(NF1):c.17C>T (p.Pro6Leu)
|
rs864622210
|
|
NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln)
|
rs1060500288
|
|
NM_001042492.3(NF1):c.1804G>C (p.Glu602Gln)
|
rs1060500322
|
|
NM_001042492.3(NF1):c.1805A>T (p.Glu602Val)
|
rs1597708772
|
|
NM_001042492.3(NF1):c.1806A>T (p.Glu602Asp)
|
rs370454753
|
|
NM_001042492.3(NF1):c.1812G>T (p.Leu604Phe)
|
rs2066963883
|
|
NM_001042492.3(NF1):c.1813A>G (p.Ile605Val)
|
rs2144016888
|
|
NM_001042492.3(NF1):c.1817G>T (p.Cys606Phe)
|
|
|
NM_001042492.3(NF1):c.1819A>G (p.Arg607Gly)
|
|
|
NM_001042492.3(NF1):c.1825A>C (p.Lys609Gln)
|
|
|
NM_001042492.3(NF1):c.1826A>G (p.Lys609Arg)
|
rs1597708810
|
|
NM_001042492.3(NF1):c.1829T>A (p.Phe610Tyr)
|
rs2144017133
|
|
NM_001042492.3(NF1):c.1831C>T (p.Leu611Phe)
|
|
|
NM_001042492.3(NF1):c.1831CTT[1] (p.Leu612del)
|
rs2066964109
|
|
NM_001042492.3(NF1):c.1839_1844del (p.Asn614_Lys615del)
|
rs1597708816
|
|
NM_001042492.3(NF1):c.1845+3A>C
|
rs2066964401
|
|
NM_001042492.3(NF1):c.1845+3A>T
|
|
|
NM_001042492.3(NF1):c.1846-1G>T
|
rs1264981771
|
|
NM_001042492.3(NF1):c.1846-2A>G
|
rs1567846609
|
|
NM_001042492.3(NF1):c.1846-3T>A
|
rs1555613541
|
|
NM_001042492.3(NF1):c.1846-3T>C
|
rs1555613541
|
|
NM_001042492.3(NF1):c.1846-8T>A
|
rs886052799
|
|
NM_001042492.3(NF1):c.1846C>G (p.Gln616Glu)
|
rs1555613543
|
|
NM_001042492.3(NF1):c.1850C>A (p.Ala617Glu)
|
rs1461412558
|
|
NM_001042492.3(NF1):c.1852G>A (p.Asp618Asn)
|
|
|
NM_001042492.3(NF1):c.1853A>G (p.Asp618Gly)
|
|
|
NM_001042492.3(NF1):c.1854T>G (p.Asp618Glu)
|
rs1184750227
|
|
NM_001042492.3(NF1):c.1855A>G (p.Arg619Gly)
|
rs587781821
|
|
NM_001042492.3(NF1):c.1859_1861del (p.Ser620_Ser621delinsThr)
|
rs2066989737
|
|
NM_001042492.3(NF1):c.1862C>T (p.Ser621Phe)
|
rs760346063
|
|
NM_001042492.3(NF1):c.1865G>A (p.Cys622Tyr)
|
rs535869486
|
|
NM_001042492.3(NF1):c.1866T>C (p.Cys622=)
|
rs753245823
|
|
NM_001042492.3(NF1):c.1867C>T (p.His623Tyr)
|
rs759555122
|
|
NM_001042492.3(NF1):c.1868A>G (p.His623Arg)
|
rs1555613555
|
|
NM_001042492.3(NF1):c.1869C>A (p.His623Gln)
|
|
|
NM_001042492.3(NF1):c.1869C>G (p.His623Gln)
|
rs1555613556
|
|
NM_001042492.3(NF1):c.1871T>C (p.Phe624Ser)
|
rs1597710397
|
|
NM_001042492.3(NF1):c.1873C>A (p.Leu625Ile)
|
rs2066990176
|
|
NM_001042492.3(NF1):c.1877T>C (p.Leu626Pro)
|
rs752591958
|
|
NM_001042492.3(NF1):c.1879T>A (p.Phe627Ile)
|
rs2066990341
|
|
NM_001042492.3(NF1):c.1885G>C (p.Gly629Arg)
|
rs199474738
|
|
NM_001042492.3(NF1):c.1886G>C (p.Gly629Ala)
|
|
|
NM_001042492.3(NF1):c.1886G>T (p.Gly629Val)
|
rs1597710440
|
|
NM_001042492.3(NF1):c.1888G>A (p.Val630Ile)
|
rs751795238
|
|
NM_001042492.3(NF1):c.1888G>T (p.Val630Leu)
|
rs751795238
|
|
NM_001042492.3(NF1):c.1892G>A (p.Gly631Glu)
|
rs876660272
|
|
NM_001042492.3(NF1):c.1892G>C (p.Gly631Ala)
|
rs876660272
|
|
NM_001042492.3(NF1):c.1892G>T (p.Gly631Val)
|
rs876660272
|
|
NM_001042492.3(NF1):c.1895G>A (p.Cys632Tyr)
|
rs1567846698
|
|
NM_001042492.3(NF1):c.189G>C (p.Lys63Asn)
|
rs2143627434
|
|
NM_001042492.3(NF1):c.189G>T (p.Lys63Asn)
|
|
|
NM_001042492.3(NF1):c.1903C>T (p.Pro635Ser)
|
|
|
NM_001042492.3(NF1):c.1906T>C (p.Ser636Pro)
|
rs2066991161
|
|
NM_001042492.3(NF1):c.1907C>A (p.Ser636Tyr)
|
rs780412565
|
|
NM_001042492.3(NF1):c.1907C>T (p.Ser636Phe)
|
rs780412565
|
|
NM_001042492.3(NF1):c.1910G>C (p.Ser637Thr)
|
rs749745247
|
|
NM_001042492.3(NF1):c.1913G>T (p.Gly638Val)
|
|
|
NM_001042492.3(NF1):c.1915A>C (p.Asn639His)
|
|
|
NM_001042492.3(NF1):c.1915A>T (p.Asn639Tyr)
|
rs2144026692
|
|
NM_001042492.3(NF1):c.1916A>G (p.Asn639Ser)
|
rs1060500275
|
|
NM_001042492.3(NF1):c.1918A>G (p.Thr640Ala)
|
rs2144026733
|
|
NM_001042492.3(NF1):c.1919C>G (p.Thr640Ser)
|
rs1555613573
|
|
NM_001042492.3(NF1):c.1919C>T (p.Thr640Ile)
|
rs1555613573
|
|
NM_001042492.3(NF1):c.1921A>T (p.Ser641Cys)
|
rs769154907
|
|
NM_001042492.3(NF1):c.1922G>A (p.Ser641Asn)
|
|
|
NM_001042492.3(NF1):c.1927A>G (p.Met643Val)
|
|
|
NM_001042492.3(NF1):c.1929G>A (p.Met643Ile)
|
rs2144026901
|
|
NM_001042492.3(NF1):c.1930_1935del (p.Ser644_Met645del)
|
rs1373021403
|
|
NM_001042492.3(NF1):c.1931C>G (p.Ser644Cys)
|
rs1174202288
|
|
NM_001042492.3(NF1):c.1934T>C (p.Met645Thr)
|
|
|
NM_001042492.3(NF1):c.1935G>A (p.Met645Ile)
|
rs1597710605
|
|
NM_001042492.3(NF1):c.1936G>C (p.Asp646His)
|
rs142079728
|
|
NM_001042492.3(NF1):c.1939C>A (p.His647Asn)
|
|
|
NM_001042492.3(NF1):c.1939C>T (p.His647Tyr)
|
rs776251084
|
|
NM_001042492.3(NF1):c.1940A>C (p.His647Pro)
|
rs1170252879
|
|
NM_001042492.3(NF1):c.1940A>G (p.His647Arg)
|
rs1170252879
|
|
NM_001042492.3(NF1):c.1941T>A (p.His647Gln)
|
rs1397958327
|
|
NM_001042492.3(NF1):c.1941T>G (p.His647Gln)
|
rs1397958327
|
|
NM_001042492.3(NF1):c.1954C>T (p.Arg652Cys)
|
rs786202436
|
|
NM_001042492.3(NF1):c.1955G>C (p.Arg652Pro)
|
rs587778549
|
|
NM_001042492.3(NF1):c.1955G>T (p.Arg652Leu)
|
rs587778549
|
|
NM_001042492.3(NF1):c.1957A>G (p.Thr653Ala)
|
rs1597710712
|
|
NM_001042492.3(NF1):c.1960C>A (p.Pro654Thr)
|
rs765281937
|
|
NM_001042492.3(NF1):c.1960C>G (p.Pro654Ala)
|
rs765281937
|
|
NM_001042492.3(NF1):c.1960C>T (p.Pro654Ser)
|
rs765281937
|
|
NM_001042492.3(NF1):c.1960_1962del (p.Pro654del)
|
rs2144027388
|
|
NM_001042492.3(NF1):c.1963G>C (p.Gly655Arg)
|
rs2066993000
|
|
NM_001042492.3(NF1):c.1964G>A (p.Gly655Glu)
|
|
|
NM_001042492.3(NF1):c.1966G>A (p.Ala656Thr)
|
rs1555613598
|
|
NM_001042492.3(NF1):c.1967C>A (p.Ala656Asp)
|
rs775414476
|
|
NM_001042492.3(NF1):c.1967C>T (p.Ala656Val)
|
rs775414476
|
|
NM_001042492.3(NF1):c.1969T>G (p.Ser657Ala)
|
rs1471484159
|
|
NM_001042492.3(NF1):c.1970C>G (p.Ser657Cys)
|
|
|
NM_001042492.3(NF1):c.1981G>A (p.Gly661Arg)
|
rs2066993430
|
|
NM_001042492.3(NF1):c.1984A>G (p.Lys662Glu)
|
rs1597710793
|
|
NM_001042492.3(NF1):c.1988G>A (p.Gly663Glu)
|
rs2066993661
|
|
NM_001042492.3(NF1):c.1989G>T (p.Gly663=)
|
|
|
NM_001042492.3(NF1):c.198_200del (p.Asn67del)
|
|
|
NM_001042492.3(NF1):c.1996T>C (p.Ser666Pro)
|
rs876659281
|
|
NM_001042492.3(NF1):c.1997C>T (p.Ser666Phe)
|
rs2066993930
|
|
NM_001042492.3(NF1):c.19G>A (p.Val7Met)
|
rs1911552278
|
|
NM_001042492.3(NF1):c.2001+3C>T
|
|
|
NM_001042492.3(NF1):c.2001+4A>G
|
|
|
NM_001042492.3(NF1):c.2001+5G>T
|
rs2144028091
|
|
NM_001042492.3(NF1):c.2001+6C>T
|
|
|
NM_001042492.3(NF1):c.2001G>A (p.Met667Ile)
|
rs1597710853
|
|
NM_001042492.3(NF1):c.2002-5C>G
|
rs1165625614
|
|
NM_001042492.3(NF1):c.2002-7_2002-3del
|
|
|
NM_001042492.3(NF1):c.2002G>A (p.Asp668Asn)
|
rs1445299269
|
|
NM_001042492.3(NF1):c.2002G>T (p.Asp668Tyr)
|
rs1445299269
|
|
NM_001042492.3(NF1):c.2006G>A (p.Ser669Asn)
|
rs1288056326
|
|
NM_001042492.3(NF1):c.2009C>T (p.Ala670Val)
|
|
|
NM_001042492.3(NF1):c.2011G>A (p.Ala671Thr)
|
|
|
NM_001042492.3(NF1):c.2011G>T (p.Ala671Ser)
|
rs2151425535
|
|
NM_001042492.3(NF1):c.2012C>G (p.Ala671Gly)
|
rs760900648
|
|
NM_001042492.3(NF1):c.2014G>A (p.Gly672Arg)
|
rs786202632
|
|
NM_001042492.3(NF1):c.2015G>A (p.Gly672Glu)
|
|
|
NM_001042492.3(NF1):c.2015G>T (p.Gly672Val)
|
rs371817372
|
|
NM_001042492.3(NF1):c.2018G>A (p.Cys673Tyr)
|
rs878853872
|
|
NM_001042492.3(NF1):c.2020A>G (p.Ser674Gly)
|
rs1555613753
|
|
NM_001042492.3(NF1):c.2022C>G (p.Ser674Arg)
|
rs2230851
|
|
NM_001042492.3(NF1):c.2026A>C (p.Thr676Pro)
|
rs2067015355
|
|
NM_001042492.3(NF1):c.2027C>A (p.Thr676Asn)
|
|
|
NM_001042492.3(NF1):c.2027C>T (p.Thr676Ile)
|
rs1294581001
|
|
NM_001042492.3(NF1):c.2029C>T (p.Pro677Ser)
|
|
|
NM_001042492.3(NF1):c.202A>G (p.Met68Val)
|
|
|
NM_001042492.3(NF1):c.2030C>T (p.Pro677Leu)
|
|
|
NM_001042492.3(NF1):c.2032C>A (p.Pro678Thr)
|
rs758691069
|
|
NM_001042492.3(NF1):c.2032C>T (p.Pro678Ser)
|
rs758691069
|
|
NM_001042492.3(NF1):c.2034_2035delinsAG (p.Ile679Val)
|
rs2067015935
|
|
NM_001042492.3(NF1):c.2035A>G (p.Ile679Val)
|
|
|
NM_001042492.3(NF1):c.2038T>C (p.Cys680Arg)
|
rs1555613775
|
|
NM_001042492.3(NF1):c.203T>C (p.Met68Thr)
|
rs779063198
|
|
NM_001042492.3(NF1):c.204+3G>C
|
|
|
NM_001042492.3(NF1):c.204+3_204+6del
|
rs1567814632
|
|
NM_001042492.3(NF1):c.204+4A>G
|
rs1555604946
|
|
NM_001042492.3(NF1):c.204+4del
|
rs1597626163
|
|
NM_001042492.3(NF1):c.204+6T>G
|
rs1555604948
|
|
NM_001042492.3(NF1):c.2042G>A (p.Arg681Gln)
|
rs786201768
|
|
NM_001042492.3(NF1):c.2042G>T (p.Arg681Leu)
|
rs786201768
|
|
NM_001042492.3(NF1):c.2044C>A (p.Gln682Lys)
|
|
|
NM_001042492.3(NF1):c.2047G>A (p.Ala683Thr)
|
rs2151425636
|
|
NM_001042492.3(NF1):c.2048C>T (p.Ala683Val)
|
rs1284070052
|
|
NM_001042492.3(NF1):c.204G>A (p.Met68Ile)
|
rs1441153485
|
|
NM_001042492.3(NF1):c.205-11_205-6delinsGGAAAA
|
rs2065715987
|
|
NM_001042492.3(NF1):c.205-18_205-15dup
|
|
|
NM_001042492.3(NF1):c.2050C>G (p.Gln684Glu)
|
rs2067016517
|
|
NM_001042492.3(NF1):c.2051A>C (p.Gln684Pro)
|
rs201076784
|
|
NM_001042492.3(NF1):c.2054C>A (p.Thr685Asn)
|
rs876658190
|
|
NM_001042492.3(NF1):c.2059C>G (p.Leu687Val)
|
rs1597712422
|
|
NM_001042492.3(NF1):c.205A>G (p.Arg69Gly)
|
|
|
NM_001042492.3(NF1):c.2062G>C (p.Glu688Gln)
|
rs1555613784
|
|
NM_001042492.3(NF1):c.2064A>T (p.Glu688Asp)
|
rs1354039315
|
|
NM_001042492.3(NF1):c.2068G>A (p.Ala690Thr)
|
|
|
NM_001042492.3(NF1):c.2069C>T (p.Ala690Val)
|
rs2067016932
|
|
NM_001042492.3(NF1):c.206G>T (p.Arg69Ile)
|
rs1216707810
|
|
NM_001042492.3(NF1):c.2072delinsGGGC (p.Leu691delinsArgAla)
|
rs2067017033
|
|
NM_001042492.3(NF1):c.2075_2080dup (p.Tyr692_Met693dup)
|
rs2067017065
|
|
NM_001042492.3(NF1):c.2077A>C (p.Met693Leu)
|
rs1555613794
|
|
NM_001042492.3(NF1):c.2077A>G (p.Met693Val)
|
rs1555613794
|
|
NM_001042492.3(NF1):c.2078T>C (p.Met693Thr)
|
rs2067017258
|
|
NM_001042492.3(NF1):c.2080T>C (p.Phe694Leu)
|
rs1597712476
|
|
NM_001042492.3(NF1):c.2089A>G (p.Asn697Asp)
|
rs2151425757
|
|
NM_001042492.3(NF1):c.2092C>A (p.Pro698Thr)
|
|
|
NM_001042492.3(NF1):c.2092C>G (p.Pro698Ala)
|
rs1182909595
|
|
NM_001042492.3(NF1):c.2095G>C (p.Asp699His)
|
|
|
NM_001042492.3(NF1):c.2098A>G (p.Thr700Ala)
|
rs1555613801
|
|
NM_001042492.3(NF1):c.2099C>G (p.Thr700Ser)
|
rs1446159048
|
|
NM_001042492.3(NF1):c.2099C>T (p.Thr700Ile)
|
|
|
NM_001042492.3(NF1):c.2101G>A (p.Glu701Lys)
|
rs1597712510
|
|
NM_001042492.3(NF1):c.2105C>T (p.Ala702Val)
|
rs2067017751
|
|
NM_001042492.3(NF1):c.2116G>A (p.Ala706Thr)
|
rs876658232
|
|
NM_001042492.3(NF1):c.2117C>T (p.Ala706Val)
|
rs2151425819
|
|
NM_001042492.3(NF1):c.2119A>G (p.Met707Val)
|
rs2151425829
|
|
NM_001042492.3(NF1):c.2120T>C (p.Met707Thr)
|
|
|
NM_001042492.3(NF1):c.2126G>A (p.Cys709Tyr)
|
rs864622547
|
|
NM_001042492.3(NF1):c.2131C>T (p.Arg711Cys)
|
rs1400902839
|
|
NM_001042492.3(NF1):c.2132G>C (p.Arg711Pro)
|
rs1479669686
|
|
NM_001042492.3(NF1):c.2132_2134del (p.Arg711del)
|
rs2151425862
|
|
NM_001042492.3(NF1):c.2135A>G (p.His712Arg)
|
rs199474727
|
|
NM_001042492.3(NF1):c.2136C>A (p.His712Gln)
|
|
|
NM_001042492.3(NF1):c.2137_2145del (p.Leu713_Glu715del)
|
|
|
NM_001042492.3(NF1):c.2140T>A (p.Cys714Ser)
|
rs2067018640
|
|
NM_001042492.3(NF1):c.2141G>T (p.Cys714Phe)
|
|
|
NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp)
|
rs759679443
|
|
NM_001042492.3(NF1):c.2159G>T (p.Arg720Leu)
|
rs1350468182
|
|
NM_001042492.3(NF1):c.2161T>A (p.Cys721Ser)
|
rs1597712637
|
|
NM_001042492.3(NF1):c.2161T>C (p.Cys721Arg)
|
rs1597712637
|
|
NM_001042492.3(NF1):c.2162G>A (p.Cys721Tyr)
|
|
|
NM_001042492.3(NF1):c.2162G>T (p.Cys721Phe)
|
rs2067019239
|
|
NM_001042492.3(NF1):c.2165G>A (p.Gly722Glu)
|
rs2151425948
|
|
NM_001042492.3(NF1):c.2167G>A (p.Val723Met)
|
rs2151425958
|
|
NM_001042492.3(NF1):c.2175A>C (p.Glu725Asp)
|
|
|
NM_001042492.3(NF1):c.2176G>T (p.Val726Leu)
|
rs2067019399
|
|
NM_001042492.3(NF1):c.2180C>T (p.Ser727Leu)
|
rs2151425993
|
|
NM_001042492.3(NF1):c.2186A>T (p.His729Leu)
|
|
|
NM_001042492.3(NF1):c.2188A>C (p.Asn730His)
|
rs758893131
|
|
NM_001042492.3(NF1):c.2190C>A (p.Asn730Lys)
|
rs1176754107
|
|
NM_001042492.3(NF1):c.2196G>T (p.Leu732Phe)
|
rs2067019832
|
|
NM_001042492.3(NF1):c.2198C>A (p.Pro733His)
|
|
|
NM_001042492.3(NF1):c.2198C>T (p.Pro733Leu)
|
|
|
NM_001042492.3(NF1):c.219A>T (p.Glu73Asp)
|
rs1567816022
|
|
NM_001042492.3(NF1):c.2203T>C (p.Tyr735His)
|
rs1555613827
|
|
NM_001042492.3(NF1):c.2206A>C (p.Asn736His)
|
rs1567847621
|
|
NM_001042492.3(NF1):c.2207A>G (p.Asn736Ser)
|
|
|
NM_001042492.3(NF1):c.220G>C (p.Ala74Pro)
|
|
|
NM_001042492.3(NF1):c.220G>T (p.Ala74Ser)
|
rs2065716371
|
|
NM_001042492.3(NF1):c.2210C>G (p.Thr737Arg)
|
|
|
NM_001042492.3(NF1):c.2210C>T (p.Thr737Ile)
|
|
|
NM_001042492.3(NF1):c.2212T>C (p.Phe738Leu)
|
rs2151426076
|
|
NM_001042492.3(NF1):c.2215A>G (p.Met739Val)
|
|
|
NM_001042492.3(NF1):c.2219A>C (p.Glu740Ala)
|
|
|
NM_001042492.3(NF1):c.221C>T (p.Ala74Val)
|
rs199474726
|
|
NM_001042492.3(NF1):c.2220G>C (p.Glu740Asp)
|
|
|
NM_001042492.3(NF1):c.2220G>T (p.Glu740Asp)
|
rs2067020397
|
|
NM_001042492.3(NF1):c.2221T>A (p.Phe741Ile)
|
rs533819802
|
|
NM_001042492.3(NF1):c.2230G>A (p.Val744Ile)
|
rs786201833
|
|
NM_001042492.3(NF1):c.2230G>C (p.Val744Leu)
|
rs786201833
|
|
NM_001042492.3(NF1):c.2233A>G (p.Ser745Gly)
|
rs786201865
|
|
NM_001042492.3(NF1):c.2236A>G (p.Asn746Asp)
|
rs2151426135
|
|
NM_001042492.3(NF1):c.2237A>G (p.Asn746Ser)
|
rs1176567641
|
|
NM_001042492.3(NF1):c.2239A>G (p.Met747Val)
|
rs1471232737
|
|
NM_001042492.3(NF1):c.223G>A (p.Ala75Thr)
|
rs1597629733
|
|
NM_001042492.3(NF1):c.2240T>C (p.Met747Thr)
|
rs2151426144
|
|
NM_001042492.3(NF1):c.2240T>G (p.Met747Arg)
|
rs2151426144
|
|
NM_001042492.3(NF1):c.2244G>A (p.Met748Ile)
|
rs786202478
|
|
NM_001042492.3(NF1):c.2248A>T (p.Thr750Ser)
|
|
|
NM_001042492.3(NF1):c.2249C>T (p.Thr750Ile)
|
|
|
NM_001042492.3(NF1):c.2249_2251+4dup
|
rs2067021029
|
|
NM_001042492.3(NF1):c.224C>G (p.Ala75Gly)
|
rs2065716538
|
|
NM_001042492.3(NF1):c.2250A>G (p.Thr750=)
|
rs876659061
|
|
NM_001042492.3(NF1):c.2251+11A>G
|
|
|
NM_001042492.3(NF1):c.2251+3A>G
|
|
|
NM_001042492.3(NF1):c.2251+4A>T
|
rs2067021300
|
|
NM_001042492.3(NF1):c.2251+5A>T
|
rs786201934
|
|
NM_001042492.3(NF1):c.2251+6T>A
|
rs2067021412
|
|
NM_001042492.3(NF1):c.2252-14_2252-6del
|
|
|
NM_001042492.3(NF1):c.2252-9T>G
|
rs1555613907
|
|
NM_001042492.3(NF1):c.2254A>G (p.Arg752Gly)
|
rs2067030463
|
|
NM_001042492.3(NF1):c.2255G>A (p.Arg752Lys)
|
rs2151426839
|
|
NM_001042492.3(NF1):c.2256A>T (p.Arg752Ser)
|
rs2067030522
|
|
NM_001042492.3(NF1):c.2258C>T (p.Ala753Val)
|
|
|
NM_001042492.3(NF1):c.2260G>A (p.Ala754Thr)
|
rs1597713272
|
|
NM_001042492.3(NF1):c.2261C>G (p.Ala754Gly)
|
rs1555613912
|
|
NM_001042492.3(NF1):c.2266C>G (p.Gln756Glu)
|
rs1567847905
|
|
NM_001042492.3(NF1):c.2267A>C (p.Gln756Pro)
|
|
|
NM_001042492.3(NF1):c.2267A>G (p.Gln756Arg)
|
rs1222770265
|
|
NM_001042492.3(NF1):c.2269A>G (p.Lys757Glu)
|
|
|
NM_001042492.3(NF1):c.2271A>T (p.Lys757Asn)
|
rs1555613916
|
|
NM_001042492.3(NF1):c.2273G>C (p.Arg758Thr)
|
rs2067030950
|
|
NM_001042492.3(NF1):c.2274A>T (p.Arg758Ser)
|
rs1597713310
|
|
NM_001042492.3(NF1):c.2275G>T (p.Val759Leu)
|
rs978948341
|
|
NM_001042492.3(NF1):c.2276T>C (p.Val759Ala)
|
rs2067031096
|
|
NM_001042492.3(NF1):c.2276T>G (p.Val759Gly)
|
|
|
NM_001042492.3(NF1):c.2281G>A (p.Ala761Thr)
|
rs786202504
|
|
NM_001042492.3(NF1):c.2281G>C (p.Ala761Pro)
|
rs786202504
|
|
NM_001042492.3(NF1):c.2287C>G (p.Leu763Val)
|
rs1597713340
|
|
NM_001042492.3(NF1):c.2290A>T (p.Arg764Trp)
|
rs2151426915
|
|
NM_001042492.3(NF1):c.2291G>A (p.Arg764Lys)
|
rs1170184937
|
|
NM_001042492.3(NF1):c.2293C>G (p.Arg765Gly)
|
rs1383770460
|
|
NM_001042492.3(NF1):c.2294G>T (p.Arg765Leu)
|
rs199474777
|
|
NM_001042492.3(NF1):c.2297T>A (p.Ile766Asn)
|
|
|
NM_001042492.3(NF1):c.2297T>C (p.Ile766Thr)
|
|
|
NM_001042492.3(NF1):c.2297T>G (p.Ile766Ser)
|
rs863224657
|
|
NM_001042492.3(NF1):c.2301G>T (p.Glu767Asp)
|
rs746127097
|
|
NM_001042492.3(NF1):c.2303A>T (p.His768Leu)
|
rs2067031890
|
|
NM_001042492.3(NF1):c.2305C>T (p.Pro769Ser)
|
rs2067031963
|
|
NM_001042492.3(NF1):c.230A>C (p.Lys77Thr)
|
rs2065716657
|
|
NM_001042492.3(NF1):c.2312C>T (p.Ala771Val)
|
rs1555613928
|
|
NM_001042492.3(NF1):c.2320A>G (p.Thr774Ala)
|
rs2151427000
|
|
NM_001042492.3(NF1):c.2320A>T (p.Thr774Ser)
|
rs2151427000
|
|
NM_001042492.3(NF1):c.2321C>T (p.Thr774Ile)
|
rs917302286
|
|
NM_001042492.3(NF1):c.2325+3A>T
|
|
|
NM_001042492.3(NF1):c.2325+4T>C
|
rs1555613934
|
|
NM_001042492.3(NF1):c.2325+6C>A
|
rs1567847979
|
|
NM_001042492.3(NF1):c.2325+6C>T
|
rs1567847979
|
|
NM_001042492.3(NF1):c.2326G>A (p.Ala776Thr)
|
rs199474771
|
|
NM_001042492.3(NF1):c.2326G>T (p.Ala776Ser)
|
rs199474771
|
|
NM_001042492.3(NF1):c.2327C>A (p.Ala776Asp)
|
rs2067037211
|
|
NM_001042492.3(NF1):c.232_234del (p.Asn78del)
|
rs1555605367
|
|
NM_001042492.3(NF1):c.2337T>G (p.Asp779Glu)
|
rs1555613989
|
|
NM_001042492.3(NF1):c.2338A>G (p.Thr780Ala)
|
rs1205746953
|
|
NM_001042492.3(NF1):c.233A>G (p.Asn78Ser)
|
rs561555410
|
|
NM_001042492.3(NF1):c.2341C>T (p.His781Tyr)
|
rs1443362216
|
|
NM_001042492.3(NF1):c.2342A>G (p.His781Arg)
|
rs199474763
|
|
NM_001042492.3(NF1):c.2344G>A (p.Ala782Thr)
|
rs1352143970
|
|
NM_001042492.3(NF1):c.2344G>T (p.Ala782Ser)
|
rs1352143970
|
|
NM_001042492.3(NF1):c.2345C>A (p.Ala782Glu)
|
|
|
NM_001042492.3(NF1):c.2347A>G (p.Lys783Glu)
|
|
|
NM_001042492.3(NF1):c.234T>A (p.Asn78Lys)
|
rs876658354
|
|
NM_001042492.3(NF1):c.2351G>C (p.Trp784Ser)
|
rs2067038047
|
|
NM_001042492.3(NF1):c.2353G>A (p.Glu785Lys)
|
rs1597713756
|
|
NM_001042492.3(NF1):c.2356C>A (p.Gln786Lys)
|
rs1555613999
|
|
NM_001042492.3(NF1):c.2356C>G (p.Gln786Glu)
|
|
|
NM_001042492.3(NF1):c.2359G>A (p.Ala787Thr)
|
rs2067038399
|
|
NM_001042492.3(NF1):c.235T>G (p.Leu79Val)
|
rs764855221
|
|
NM_001042492.3(NF1):c.2360C>A (p.Ala787Glu)
|
|
|
NM_001042492.3(NF1):c.2371A>G (p.Ile791Val)
|
rs2067038542
|
|
NM_001042492.3(NF1):c.2374C>T (p.Leu792Phe)
|
rs1555614005
|
|
NM_001042492.3(NF1):c.2375T>C (p.Leu792Pro)
|
rs1597713777
|
|
NM_001042492.3(NF1):c.2377A>G (p.Asn793Asp)
|
rs2067038668
|
|
NM_001042492.3(NF1):c.237A>T (p.Leu79Phe)
|
rs752208826
|
|
NM_001042492.3(NF1):c.2380T>A (p.Tyr794Asn)
|
|
|
NM_001042492.3(NF1):c.2383C>A (p.Pro795Thr)
|
|
|
NM_001042492.3(NF1):c.2384C>T (p.Pro795Leu)
|
|
|
NM_001042492.3(NF1):c.2390C>T (p.Ala797Val)
|
rs1181350360
|
|
NM_001042492.3(NF1):c.2393A>C (p.Lys798Thr)
|
rs745498566
|
|
NM_001042492.3(NF1):c.2393A>G (p.Lys798Arg)
|
|
|
NM_001042492.3(NF1):c.2395A>G (p.Met799Val)
|
rs1060500317
|
|
NM_001042492.3(NF1):c.2395A>T (p.Met799Leu)
|
rs1060500317
|
|
NM_001042492.3(NF1):c.2396T>C (p.Met799Thr)
|
rs2067039365
|
|
NM_001042492.3(NF1):c.239A>C (p.Tyr80Ser)
|
rs4795581
|
|
NM_001042492.3(NF1):c.239A>G (p.Tyr80Cys)
|
rs4795581
|
|
NM_001042492.3(NF1):c.2405G>A (p.Gly802Asp)
|
rs752404130
|
|
NM_001042492.3(NF1):c.2406C>T (p.Gly802=)
|
rs2151427624
|
|
NM_001042492.3(NF1):c.2408A>C (p.Gln803Pro)
|
|
|
NM_001042492.3(NF1):c.2409+15T>C
|
rs2067039946
|
|
NM_001042492.3(NF1):c.2409+3A>G
|
|
|
NM_001042492.3(NF1):c.2409+4A>G
|
rs536864173
|
|
NM_001042492.3(NF1):c.2409+4del
|
|
|
NM_001042492.3(NF1):c.2409+5G>C
|
rs763688567
|
|
NM_001042492.3(NF1):c.2409G>A (p.Gln803=)
|
|
|
NM_001042492.3(NF1):c.2410-13A>G
|
rs1567848711
|
|
NM_001042492.3(NF1):c.2410-3T>C
|
|
|
NM_001042492.3(NF1):c.2410-3T>G
|
rs1450743199
|
|
NM_001042492.3(NF1):c.2410-5T>A
|
rs2151428754
|
|
NM_001042492.3(NF1):c.2410G>C (p.Ala804Pro)
|
rs761109477
|
|
NM_001042492.3(NF1):c.2411C>T (p.Ala804Val)
|
|
|
NM_001042492.3(NF1):c.2412T>A (p.Ala804=)
|
|
|
NM_001042492.3(NF1):c.2414C>T (p.Ala805Val)
|
|
|
NM_001042492.3(NF1):c.241C>A (p.Leu81Ile)
|
rs587782772
|
|
NM_001042492.3(NF1):c.2421C>G (p.Ser807Arg)
|
|
|
NM_001042492.3(NF1):c.2422C>T (p.Leu808Phe)
|
rs2067064463
|
|
NM_001042492.3(NF1):c.2426A>C (p.His809Pro)
|
rs2151428826
|
|
NM_001042492.3(NF1):c.2428A>G (p.Lys810Glu)
|
rs2151428832
|
|
NM_001042492.3(NF1):c.242T>C (p.Leu81Pro)
|
rs2143646000
|
|
NM_001042492.3(NF1):c.2434A>G (p.Ile812Val)
|
rs587781899
|
|
NM_001042492.3(NF1):c.2437G>A (p.Val813Ile)
|
rs878853876
|
|
NM_001042492.3(NF1):c.2440A>G (p.Lys814Glu)
|
rs1555614184
|
|
NM_001042492.3(NF1):c.2441A>C (p.Lys814Thr)
|
rs1555614185
|
|
NM_001042492.3(NF1):c.2441A>T (p.Lys814Met)
|
rs1555614185
|
|
NM_001042492.3(NF1):c.2444G>A (p.Arg815Lys)
|
rs1597715123
|
|
NM_001042492.3(NF1):c.2445G>C (p.Arg815Ser)
|
|
|
NM_001042492.3(NF1):c.2446C>G (p.Arg816Gly)
|
|
|
NM_001042492.3(NF1):c.2447G>C (p.Arg816Pro)
|
rs762709897
|
|
NM_001042492.3(NF1):c.2449A>G (p.Met817Val)
|
rs2151428887
|
|
NM_001042492.3(NF1):c.2450T>C (p.Met817Thr)
|
rs1597715147
|
|
NM_001042492.3(NF1):c.2464G>A (p.Gly822Arg)
|
rs2067065463
|
|
NM_001042492.3(NF1):c.2468G>A (p.Gly823Glu)
|
rs1060500267
|
|
NM_001042492.3(NF1):c.2468G>T (p.Gly823Val)
|
rs1060500267
|
|
NM_001042492.3(NF1):c.2470G>A (p.Gly824Arg)
|
rs2067065609
|
|
NM_001042492.3(NF1):c.2471G>A (p.Gly824Glu)
|
rs2067065647
|
|
NM_001042492.3(NF1):c.2471G>T (p.Gly824Val)
|
rs2067065647
|
|
NM_001042492.3(NF1):c.2474C>G (p.Ser825Cys)
|
rs1060500314
|
|
NM_001042492.3(NF1):c.2476A>G (p.Ile826Val)
|
rs767069721
|
|
NM_001042492.3(NF1):c.2477T>C (p.Ile826Thr)
|
|
|
NM_001042492.3(NF1):c.2479G>A (p.Asp827Asn)
|
rs1597715215
|
|
NM_001042492.3(NF1):c.247C>A (p.Gln83Lys)
|
|
|
NM_001042492.3(NF1):c.2485T>G (p.Ser829Ala)
|
rs1555614202
|
|
NM_001042492.3(NF1):c.2486C>G (p.Ser829Cys)
|
|
|
NM_001042492.3(NF1):c.2486C>T (p.Ser829Phe)
|
rs1567848794
|
|
NM_001042492.3(NF1):c.2488G>C (p.Asp830His)
|
rs2151428966
|
|
NM_001042492.3(NF1):c.248A>G (p.Gln83Arg)
|
rs1060500360
|
|
NM_001042492.3(NF1):c.2491A>G (p.Thr831Ala)
|
rs1555614204
|
|
NM_001042492.3(NF1):c.2492C>T (p.Thr831Ile)
|
|
|
NM_001042492.3(NF1):c.2495A>G (p.Asp832Gly)
|
rs1060500283
|
|
NM_001042492.3(NF1):c.2498C>T (p.Ser833Phe)
|
rs2067066207
|
|
NM_001042492.3(NF1):c.249G>C (p.Gln83His)
|
|
|
NM_001042492.3(NF1):c.2500C>G (p.Leu834Val)
|
|
|
NM_001042492.3(NF1):c.2512A>G (p.Ile838Val)
|
rs1555614212
|
|
NM_001042492.3(NF1):c.2512A>T (p.Ile838Phe)
|
rs1555614212
|
|
NM_001042492.3(NF1):c.2513T>C (p.Ile838Thr)
|
rs1484277979
|
|
NM_001042492.3(NF1):c.2514C>G (p.Ile838Met)
|
rs863224352
|
|
NM_001042492.3(NF1):c.2516A>T (p.Asn839Ile)
|
rs1567848834
|
|
NM_001042492.3(NF1):c.2518A>C (p.Met840Leu)
|
rs779931789
|
|
NM_001042492.3(NF1):c.2518A>G (p.Met840Val)
|
rs779931789
|
|
NM_001042492.3(NF1):c.2521A>G (p.Thr841Ala)
|
|
|
NM_001042492.3(NF1):c.2524G>A (p.Gly842Ser)
|
|
|
NM_001042492.3(NF1):c.2525G>C (p.Gly842Ala)
|
|
|
NM_001042492.3(NF1):c.2525G>T (p.Gly842Val)
|
|
|
NM_001042492.3(NF1):c.2527T>G (p.Phe843Val)
|
rs2151429055
|
|
NM_001042492.3(NF1):c.252G>T (p.Leu84Phe)
|
rs1597629835
|
|
NM_001042492.3(NF1):c.2535T>G (p.Cys845Trp)
|
rs2151429076
|
|
NM_001042492.3(NF1):c.2536G>A (p.Ala846Thr)
|
rs1555614226
|
|
NM_001042492.3(NF1):c.2539C>G (p.Leu847Val)
|
rs753552408
|
|
NM_001042492.3(NF1):c.2539C>T (p.Leu847Phe)
|
rs753552408
|
|
NM_001042492.3(NF1):c.253_261del (p.Ile85_Leu87del)
|
rs2065717507
|
|
NM_001042492.3(NF1):c.2549T>C (p.Val850Ala)
|
rs1424956205
|
|
NM_001042492.3(NF1):c.2552G>T (p.Cys851Phe)
|
rs2067067965
|
|
NM_001042492.3(NF1):c.2554C>T (p.Leu852Phe)
|
rs747579293
|
|
NM_001042492.3(NF1):c.2555T>C (p.Leu852Pro)
|
|
|
NM_001042492.3(NF1):c.2555T>G (p.Leu852Arg)
|
rs876659440
|
|
NM_001042492.3(NF1):c.2559G>T (p.Gln853His)
|
|
|
NM_001042492.3(NF1):c.2561A>G (p.Gln854Arg)
|
rs2151429134
|
|
NM_001042492.3(NF1):c.2564G>A (p.Arg855Lys)
|
|
|
NM_001042492.3(NF1):c.2565A>C (p.Arg855Ser)
|
rs2067068283
|
|
NM_001042492.3(NF1):c.2567G>A (p.Ser856Asn)
|
rs2151429147
|
|
NM_001042492.3(NF1):c.2569A>C (p.Asn857His)
|
rs1060500259
|
|
NM_001042492.3(NF1):c.256A>C (p.Ile86Leu)
|
|
|
NM_001042492.3(NF1):c.2572T>C (p.Ser858Pro)
|
rs587778550
|
|
NM_001042492.3(NF1):c.2573C>T (p.Ser858Phe)
|
|
|
NM_001042492.3(NF1):c.2576G>A (p.Gly859Asp)
|
|
|
NM_001042492.3(NF1):c.2578C>G (p.Leu860Val)
|
rs1597715404
|
|
NM_001042492.3(NF1):c.2581G>A (p.Ala861Thr)
|
rs768425956
|
|
NM_001042492.3(NF1):c.2582C>A (p.Ala861Glu)
|
rs1555614266
|
|
NM_001042492.3(NF1):c.2584A>G (p.Thr862Ala)
|
rs1597715417
|
|
NM_001042492.3(NF1):c.2585C>T (p.Thr862Ile)
|
|
|
NM_001042492.3(NF1):c.2588A>G (p.Tyr863Cys)
|
rs1344682851
|
|
NM_001042492.3(NF1):c.258A>G (p.Ile86Met)
|
rs2143646253
|
|
NM_001042492.3(NF1):c.2594C>T (p.Pro865Leu)
|
rs786203084
|
|
NM_001042492.3(NF1):c.2596C>T (p.Pro866Ser)
|
rs1555614272
|
|
NM_001042492.3(NF1):c.2599A>G (p.Met867Val)
|
rs864622715
|
|
NM_001042492.3(NF1):c.259T>G (p.Leu87Val)
|
|
|
NM_001042492.3(NF1):c.25T>C (p.Trp9Arg)
|
|
|
NM_001042492.3(NF1):c.2606C>T (p.Pro869Leu)
|
rs878853878
|
|
NM_001042492.3(NF1):c.2608G>T (p.Val870Phe)
|
|
|
NM_001042492.3(NF1):c.2611A>G (p.Ser871Gly)
|
rs2067069318
|
|
NM_001042492.3(NF1):c.2618G>C (p.Arg873Pro)
|
rs949092641
|
|
NM_001042492.3(NF1):c.2618G>T (p.Arg873Leu)
|
rs949092641
|
|
NM_001042492.3(NF1):c.261G>C (p.Leu87Phe)
|
rs876658691
|
|
NM_001042492.3(NF1):c.2623G>A (p.Gly875Ser)
|
rs754734571
|
|
NM_001042492.3(NF1):c.2623G>C (p.Gly875Arg)
|
rs754734571
|
|
NM_001042492.3(NF1):c.2623G>T (p.Gly875Cys)
|
rs754734571
|
|
NM_001042492.3(NF1):c.2624G>A (p.Gly875Asp)
|
|
|
NM_001042492.3(NF1):c.262G>C (p.Asp88His)
|
rs2065717750
|
|
NM_001042492.3(NF1):c.262G>T (p.Asp88Tyr)
|
|
|
NM_001042492.3(NF1):c.2630T>A (p.Met877Lys)
|
rs2151429296
|
|
NM_001042492.3(NF1):c.2630T>C (p.Met877Thr)
|
rs2151429296
|
|
NM_001042492.3(NF1):c.2631G>T (p.Met877Ile)
|
rs1597715515
|
|
NM_001042492.3(NF1):c.2633T>G (p.Ile878Ser)
|
|
|
NM_001042492.3(NF1):c.2636C>T (p.Ser879Leu)
|
rs2151429314
|
|
NM_001042492.3(NF1):c.2638G>A (p.Val880Met)
|
rs1156571421
|
|
NM_001042492.3(NF1):c.2641A>G (p.Met881Val)
|
rs1060500263
|
|
NM_001042492.3(NF1):c.2642T>C (p.Met881Thr)
|
rs777868654
|
|
NM_001042492.3(NF1):c.2647T>C (p.Ser883Pro)
|
rs2151429342
|
|
NM_001042492.3(NF1):c.2648C>T (p.Ser883Leu)
|
rs2151429346
|
|
NM_001042492.3(NF1):c.2653G>A (p.Gly885Arg)
|
rs1060500272
|
|
NM_001042492.3(NF1):c.2658C>G (p.Asn886Lys)
|
rs781549970
|
|
NM_001042492.3(NF1):c.265A>G (p.Thr89Ala)
|
|
|
NM_001042492.3(NF1):c.2660C>G (p.Ala887Gly)
|
|
|
NM_001042492.3(NF1):c.2660C>T (p.Ala887Val)
|
rs1567849029
|
|
NM_001042492.3(NF1):c.2662G>C (p.Asp888His)
|
|
|
NM_001042492.3(NF1):c.2665A>G (p.Thr889Ala)
|
rs1314766383
|
|
NM_001042492.3(NF1):c.2666C>A (p.Thr889Lys)
|
|
|
NM_001042492.3(NF1):c.2668C>A (p.Pro890Thr)
|
rs771012891
|
|
NM_001042492.3(NF1):c.2668C>T (p.Pro890Ser)
|
rs771012891
|
|
NM_001042492.3(NF1):c.266C>A (p.Thr89Lys)
|
rs1555605392
|
|
NM_001042492.3(NF1):c.2671G>A (p.Val891Ile)
|
rs1060500256
|
|
NM_001042492.3(NF1):c.2671G>C (p.Val891Leu)
|
rs1060500256
|
|
NM_001042492.3(NF1):c.2674A>C (p.Ser892Arg)
|
|
|
NM_001042492.3(NF1):c.2674A>T (p.Ser892Cys)
|
rs746324091
|
|
NM_001042492.3(NF1):c.2677A>C (p.Lys893Gln)
|
rs2151429419
|
|
NM_001042492.3(NF1):c.2678A>G (p.Lys893Arg)
|
rs1597715604
|
|
NM_001042492.3(NF1):c.2683A>G (p.Met895Val)
|
rs876659129
|
|
NM_001042492.3(NF1):c.2684T>G (p.Met895Arg)
|
rs1555614301
|
|
NM_001042492.3(NF1):c.2685_2686delinsTA (p.Met895_Asp896delinsIleAsn)
|
rs2151429433
|
|
NM_001042492.3(NF1):c.2686G>T (p.Asp896Tyr)
|
rs1189816828
|
|
NM_001042492.3(NF1):c.268C>A (p.Leu90Met)
|
|
|
NM_001042492.3(NF1):c.2690G>C (p.Arg897Pro)
|
rs863224658
|
|
NM_001042492.3(NF1):c.2699C>T (p.Ser900Phe)
|
|
|
NM_001042492.3(NF1):c.269T>G (p.Leu90Arg)
|
rs1555605393
|
|
NM_001042492.3(NF1):c.26G>T (p.Trp9Leu)
|
rs1567786829
|
|
NM_001042492.3(NF1):c.2705T>G (p.Met902Arg)
|
rs1353007349
|
|
NM_001042492.3(NF1):c.2706G>A (p.Met902Ile)
|
rs2067071823
|
|
NM_001042492.3(NF1):c.270G>A (p.Leu90=)
|
rs2065717955
|
|
NM_001042492.3(NF1):c.2711G>C (p.Cys904Ser)
|
rs2151429496
|
|
NM_001042492.3(NF1):c.2716C>T (p.His906Tyr)
|
|
|
NM_001042492.3(NF1):c.2718T>A (p.His906Gln)
|
rs2067072074
|
|
NM_001042492.3(NF1):c.2722A>G (p.Lys908Glu)
|
|
|
NM_001042492.3(NF1):c.2725G>A (p.Val909Met)
|
|
|
NM_001042492.3(NF1):c.2725G>T (p.Val909Leu)
|
rs1567849105
|
|
NM_001042492.3(NF1):c.2728G>C (p.Gly910Arg)
|
|
|
NM_001042492.3(NF1):c.2737A>G (p.Ile913Val)
|
|
|
NM_001042492.3(NF1):c.2739A>G (p.Ile913Met)
|
rs2151429561
|
|
NM_001042492.3(NF1):c.2746A>G (p.Asn916Asp)
|
rs2067072617
|
|
NM_001042492.3(NF1):c.2747A>T (p.Asn916Ile)
|
rs765043916
|
|
NM_001042492.3(NF1):c.274A>G (p.Lys92Glu)
|
rs1555605396
|
|
NM_001042492.3(NF1):c.2752A>G (p.Lys918Glu)
|
|
|
NM_001042492.3(NF1):c.2753A>G (p.Lys918Arg)
|
|
|
NM_001042492.3(NF1):c.2755G>T (p.Asp919Tyr)
|
rs1597715708
|
|
NM_001042492.3(NF1):c.2757T>A (p.Asp919Glu)
|
rs1131691110
|
|
NM_001042492.3(NF1):c.2758C>G (p.Leu920Val)
|
rs2151429594
|
|
NM_001042492.3(NF1):c.2759T>A (p.Leu920Gln)
|
rs199474775
|
|
NM_001042492.3(NF1):c.2759T>C (p.Leu920Pro)
|
rs199474775
|
|
NM_001042492.3(NF1):c.275A>G (p.Lys92Arg)
|
rs2065718099
|
|
NM_001042492.3(NF1):c.2761G>A (p.Val921Met)
|
rs567023433
|
|
NM_001042492.3(NF1):c.2761G>T (p.Val921Leu)
|
|
|
NM_001042492.3(NF1):c.2764G>A (p.Gly922Ser)
|
rs1135402831
|
|
NM_001042492.3(NF1):c.2765G>C (p.Gly922Ala)
|
|
|
NM_001042492.3(NF1):c.2767C>G (p.Leu923Val)
|
|
|
NM_001042492.3(NF1):c.276A>T (p.Lys92Asn)
|
rs1060503900
|
|
NM_001042492.3(NF1):c.2772A>C (p.Glu924Asp)
|
rs2151429630
|
|
NM_001042492.3(NF1):c.2782G>A (p.Ala928Thr)
|
rs1277935019
|
|
NM_001042492.3(NF1):c.2783C>T (p.Ala928Val)
|
rs2067073386
|
|
NM_001042492.3(NF1):c.2791C>G (p.Pro931Ala)
|
rs764290369
|
|
NM_001042492.3(NF1):c.2794A>C (p.Met932Leu)
|
rs886052800
|
|
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro)
|
rs1555614342
|
|
NM_001042492.3(NF1):c.27G>C (p.Trp9Cys)
|
|
|
NM_001042492.3(NF1):c.2806A>G (p.Lys936Glu)
|
rs1555614345
|
|
NM_001042492.3(NF1):c.2810T>G (p.Leu937Trp)
|
rs1567849184
|
|
NM_001042492.3(NF1):c.2811GAA[1] (p.Lys938del)
|
rs2151429739
|
|
NM_001042492.3(NF1):c.2812A>G (p.Lys938Glu)
|
rs2067074174
|
|
NM_001042492.3(NF1):c.2817T>A (p.Asn939Lys)
|
rs2151429754
|
|
NM_001042492.3(NF1):c.2818A>G (p.Thr940Ala)
|
rs1443857560
|
|
NM_001042492.3(NF1):c.2821A>T (p.Ile941Phe)
|
|
|
NM_001042492.3(NF1):c.2822T>C (p.Ile941Thr)
|
rs2067074387
|
|
NM_001042492.3(NF1):c.2824A>C (p.Ser942Arg)
|
rs2151429775
|
|
NM_001042492.3(NF1):c.2825G>C (p.Ser942Thr)
|
rs1555614350
|
|
NM_001042492.3(NF1):c.2826C>G (p.Ser942Arg)
|
rs2151429785
|
|
NM_001042492.3(NF1):c.2826C>T (p.Ser942=)
|
|
|
NM_001042492.3(NF1):c.2827A>G (p.Lys943Glu)
|
rs1567849199
|
|
NM_001042492.3(NF1):c.2831T>A (p.Phe944Tyr)
|
|
|
NM_001042492.3(NF1):c.2837A>G (p.Asp946Gly)
|
rs2067074650
|
|
NM_001042492.3(NF1):c.2839T>A (p.Ser947Thr)
|
rs1567849219
|
|
NM_001042492.3(NF1):c.2840C>G (p.Ser947Cys)
|
rs878853879
|
|
NM_001042492.3(NF1):c.2843A>T (p.Gln948Leu)
|
|
|
NM_001042492.3(NF1):c.2844A>G (p.Gln948=)
|
|
|
NM_001042492.3(NF1):c.2846G>A (p.Gly949Glu)
|
|
|
NM_001042492.3(NF1):c.284C>A (p.Ala95Asp)
|
|
|
NM_001042492.3(NF1):c.284C>G (p.Ala95Gly)
|
rs1567816119
|
|
NM_001042492.3(NF1):c.284C>T (p.Ala95Val)
|
rs1567816119
|
|
NM_001042492.3(NF1):c.2850+5A>G
|
rs864622633
|
|
NM_001042492.3(NF1):c.2850+6G>A
|
rs756650807
|
|
NM_001042492.3(NF1):c.2850+6G>C
|
|
|
NM_001042492.3(NF1):c.2850G>T (p.Gln950His)
|
|
|
NM_001042492.3(NF1):c.2851-23_2851-7del
|
rs2067081767
|
|
NM_001042492.3(NF1):c.2851-4T>G
|
|
|
NM_001042492.3(NF1):c.2851G>A (p.Val951Ile)
|
rs1597716277
|
|
NM_001042492.3(NF1):c.2852T>C (p.Val951Ala)
|
|
|
NM_001042492.3(NF1):c.2867C>G (p.Thr956Ser)
|
rs1323973848
|
|
NM_001042492.3(NF1):c.2867C>T (p.Thr956Ile)
|
rs1323973848
|
|
NM_001042492.3(NF1):c.2870A>G (p.Asn957Ser)
|
|
|
NM_001042492.3(NF1):c.2877A>G (p.Gln959=)
|
rs1567849511
|
|
NM_001042492.3(NF1):c.288+2dup
|
|
|
NM_001042492.3(NF1):c.288+3A>C
|
rs2065718699
|
|
NM_001042492.3(NF1):c.288+3A>T
|
rs2065718699
|
|
NM_001042492.3(NF1):c.288+4A>G
|
rs781459468
|
|
NM_001042492.3(NF1):c.288+4A>T
|
rs781459468
|
|
NM_001042492.3(NF1):c.288+594A>G
|
|
|
NM_001042492.3(NF1):c.288+9A>G
|
rs1567816141
|
|
NM_001042492.3(NF1):c.2882T>A (p.Val961Glu)
|
|
|
NM_001042492.3(NF1):c.2886_2897del (p.Glu962_Ala966delinsAsp)
|
rs1135402835
|
|
NM_001042492.3(NF1):c.2887C>G (p.Gln963Glu)
|
|
|
NM_001042492.3(NF1):c.2888A>C (p.Gln963Pro)
|
|
|
NM_001042492.3(NF1):c.289-22A>C
|
rs2143669668
|
|
NM_001042492.3(NF1):c.289-6T>C
|
rs757074803
|
|
NM_001042492.3(NF1):c.2890A>C (p.Thr964Pro)
|
|
|
NM_001042492.3(NF1):c.2891_2892delinsAG (p.Thr964Lys)
|
rs2067083355
|
|
NM_001042492.3(NF1):c.2894T>A (p.Ile965Lys)
|
rs1555614438
|
|
NM_001042492.3(NF1):c.2896G>A (p.Ala966Thr)
|
rs876658849
|
|
NM_001042492.3(NF1):c.2896G>T (p.Ala966Ser)
|
|
|
NM_001042492.3(NF1):c.2897C>A (p.Ala966Asp)
|
|
|
NM_001042492.3(NF1):c.2897C>G (p.Ala966Gly)
|
rs1567849533
|
|
NM_001042492.3(NF1):c.2899A>G (p.Ile967Val)
|
rs876660279
|
|
NM_001042492.3(NF1):c.28G>A (p.Val10Ile)
|
|
|
NM_001042492.3(NF1):c.2900T>C (p.Ile967Thr)
|
rs1289091384
|
|
NM_001042492.3(NF1):c.2901A>G (p.Ile967Met)
|
rs2151430624
|
|
NM_001042492.3(NF1):c.2903T>A (p.Met968Lys)
|
rs199474749
|
|
NM_001042492.3(NF1):c.2904G>A (p.Met968Ile)
|
rs1597716342
|
|
NM_001042492.3(NF1):c.2908A>T (p.Asn970Tyr)
|
|
|
NM_001042492.3(NF1):c.2914C>A (p.Leu972Ile)
|
rs2067083880
|
|
NM_001042492.3(NF1):c.2915T>A (p.Leu972Gln)
|
rs1597716348
|
|
NM_001042492.3(NF1):c.2915T>C (p.Leu972Pro)
|
rs1597716348
|
|
NM_001042492.3(NF1):c.2917G>A (p.Asp973Asn)
|
rs2151430652
|
|
NM_001042492.3(NF1):c.2923C>A (p.His975Asn)
|
rs2151430673
|
|
NM_001042492.3(NF1):c.2923C>T (p.His975Tyr)
|
|
|
NM_001042492.3(NF1):c.2924A>G (p.His975Arg)
|
|
|
NM_001042492.3(NF1):c.2927C>G (p.Thr976Ser)
|
rs755404523
|
|
NM_001042492.3(NF1):c.292C>A (p.Pro98Thr)
|
|
|
NM_001042492.3(NF1):c.2932G>A (p.Gly978Ser)
|
rs1597716367
|
|
NM_001042492.3(NF1):c.2932G>T (p.Gly978Cys)
|
rs1597716367
|
|
NM_001042492.3(NF1):c.2935A>G (p.Ser979Gly)
|
rs2067084249
|
|
NM_001042492.3(NF1):c.2936G>A (p.Ser979Asn)
|
rs2151430704
|
|
NM_001042492.3(NF1):c.2939C>T (p.Ser980Phe)
|
rs2067084275
|
|
NM_001042492.3(NF1):c.293C>T (p.Pro98Leu)
|
|
|
NM_001042492.3(NF1):c.2942A>G (p.Glu981Gly)
|
rs2067084366
|
|
NM_001042492.3(NF1):c.2951G>A (p.Gly984Glu)
|
|
|
NM_001042492.3(NF1):c.2954A>T (p.Gln985Leu)
|
rs1567849565
|
|
NM_001042492.3(NF1):c.2956_2967del (p.Ala986_Glu989del)
|
|
|
NM_001042492.3(NF1):c.2957C>T (p.Ala986Val)
|
rs876659417
|
|
NM_001042492.3(NF1):c.295A>C (p.Lys99Gln)
|
|
|
NM_001042492.3(NF1):c.295A>G (p.Lys99Glu)
|
|
|
NM_001042492.3(NF1):c.2960G>A (p.Ser987Asn)
|
rs1060500329
|
|
NM_001042492.3(NF1):c.2962A>G (p.Ile988Val)
|
rs587781936
|
|
NM_001042492.3(NF1):c.2972T>C (p.Met991Thr)
|
rs1060500298
|
|
NM_001042492.3(NF1):c.2980A>T (p.Asn994Tyr)
|
rs2067085170
|
|
NM_001042492.3(NF1):c.2981A>G (p.Asn994Ser)
|
rs2067085209
|
|
NM_001042492.3(NF1):c.2984T>C (p.Leu995Pro)
|
rs1597716466
|
|
NM_001042492.3(NF1):c.2984T>G (p.Leu995Arg)
|
rs1597716466
|
|
NM_001042492.3(NF1):c.2985G>A (p.Leu995=)
|
rs17881467
|
|
NM_001042492.3(NF1):c.2986G>T (p.Val996Phe)
|
rs2151430840
|
|
NM_001042492.3(NF1):c.2987T>A (p.Val996Asp)
|
|
|
NM_001042492.3(NF1):c.2989A>G (p.Arg997Gly)
|
rs2067085335
|
|
NM_001042492.3(NF1):c.2989A>T (p.Arg997Trp)
|
rs2067085335
|
|
NM_001042492.3(NF1):c.298G>A (p.Asp100Asn)
|
|
|
NM_001042492.3(NF1):c.2990+3A>T
|
rs1597716487
|
|
NM_001042492.3(NF1):c.2992T>C (p.Tyr998His)
|
|
|
NM_001042492.3(NF1):c.2992T>G (p.Tyr998Asp)
|
|
|
NM_001042492.3(NF1):c.2993A>C (p.Tyr998Ser)
|
rs1555614496
|
|
NM_001042492.3(NF1):c.2993A>G (p.Tyr998Cys)
|
rs1555614496
|
|
NM_001042492.3(NF1):c.2993A>T (p.Tyr998Phe)
|
|
|
NM_001042492.3(NF1):c.2999G>T (p.Arg1000Leu)
|
rs753082620
|
|
NM_001042492.3(NF1):c.3004C>G (p.Leu1002Val)
|
rs2151431496
|
|
NM_001042492.3(NF1):c.3008G>A (p.Gly1003Glu)
|
rs2151431510
|
|
NM_001042492.3(NF1):c.3014T>C (p.Met1005Thr)
|
rs1555614504
|
|
NM_001042492.3(NF1):c.3016G>A (p.Val1006Ile)
|
rs1060500383
|
|
NM_001042492.3(NF1):c.3017T>C (p.Val1006Ala)
|
rs755636107
|
|
NM_001042492.3(NF1):c.3019C>T (p.His1007Tyr)
|
|
|
NM_001042492.3(NF1):c.3025A>G (p.Ile1009Val)
|
rs1597716866
|
|
NM_001042492.3(NF1):c.3027T>G (p.Ile1009Met)
|
rs2151431556
|
|
NM_001042492.3(NF1):c.3028C>A (p.Gln1010Lys)
|
|
|
NM_001042492.3(NF1):c.302C>A (p.Thr101Lys)
|
|
|
NM_001042492.3(NF1):c.3033A>G (p.Ile1011Met)
|
rs2151431575
|
|
NM_001042492.3(NF1):c.3037A>C (p.Thr1013Pro)
|
rs1597716888
|
|
NM_001042492.3(NF1):c.3038C>G (p.Thr1013Arg)
|
rs786203132
|
|
NM_001042492.3(NF1):c.3040A>G (p.Lys1014Glu)
|
rs1135402839
|
|
NM_001042492.3(NF1):c.3051A>C (p.Gln1017His)
|
rs201891488
|
|
NM_001042492.3(NF1):c.3054A>C (p.Leu1018Phe)
|
rs1237938582
|
|
NM_001042492.3(NF1):c.3055G>A (p.Val1019Ile)
|
rs1567849826
|
|
NM_001042492.3(NF1):c.3056T>C (p.Val1019Ala)
|
rs1555614520
|
|
NM_001042492.3(NF1):c.3059A>C (p.Glu1020Ala)
|
|
|
NM_001042492.3(NF1):c.3064A>G (p.Met1022Val)
|
rs2067092180
|
|
NM_001042492.3(NF1):c.3065T>A (p.Met1022Lys)
|
|
|
NM_001042492.3(NF1):c.3065_3073dup (p.Met1022_Ala1024dup)
|
rs1567849843
|
|
NM_001042492.3(NF1):c.3069G>A (p.Met1023Ile)
|
rs2151431668
|
|
NM_001042492.3(NF1):c.306G>A (p.Met102Ile)
|
rs2143670540
|
|
NM_001042492.3(NF1):c.3071C>T (p.Ala1024Val)
|
rs1555614525
|
|
NM_001042492.3(NF1):c.3073A>G (p.Arg1025Gly)
|
|
|
NM_001042492.3(NF1):c.3074G>A (p.Arg1025Lys)
|
rs876659876
|
|
NM_001042492.3(NF1):c.3078A>C (p.Arg1026Ser)
|
rs1597716965
|
|
NM_001042492.3(NF1):c.3080A>G (p.Asp1027Gly)
|
rs2151431688
|
|
NM_001042492.3(NF1):c.3081_3083dup (p.Asp1028_Leu1029insAsp)
|
|
|
NM_001042492.3(NF1):c.3082_3083delinsTT (p.Asp1028Phe)
|
|
|
NM_001042492.3(NF1):c.3083A>G (p.Asp1028Gly)
|
|
|
NM_001042492.3(NF1):c.3086T>C (p.Leu1029Pro)
|
rs2067092609
|
|
NM_001042492.3(NF1):c.3089C>T (p.Ser1030Leu)
|
|
|
NM_001042492.3(NF1):c.3095G>C (p.Cys1032Ser)
|
rs2151431724
|
|
NM_001042492.3(NF1):c.3097C>G (p.Gln1033Glu)
|
|
|
NM_001042492.3(NF1):c.3099A>G (p.Gln1033=)
|
rs2067092832
|
|
NM_001042492.3(NF1):c.309A>T (p.Arg103Ser)
|
rs1225112706
|
|
NM_001042492.3(NF1):c.3104T>C (p.Met1035Thr)
|
rs137854553
|
|
NM_001042492.3(NF1):c.3107A>C (p.Lys1036Thr)
|
rs1555614540
|
|
NM_001042492.3(NF1):c.3107A>G (p.Lys1036Arg)
|
rs1555614540
|
|
NM_001042492.3(NF1):c.3112A>T (p.Arg1038Trp)
|
rs1597717017
|
|
NM_001042492.3(NF1):c.3113+2T>C
|
rs876658997
|
|
NM_001042492.3(NF1):c.3113G>A (p.Arg1038Lys)
|
|
|
NM_001042492.3(NF1):c.3113G>T (p.Arg1038Met)
|
rs1060500313
|
|
NM_001042492.3(NF1):c.3114-11C>G
|
rs2151432318
|
|
NM_001042492.3(NF1):c.3114-3T>C
|
rs773097190
|
|
NM_001042492.3(NF1):c.3114-7T>G
|
rs754931967
|
|
NM_001042492.3(NF1):c.3114G>C (p.Arg1038Ser)
|
rs1555614616
|
|
NM_001042492.3(NF1):c.3117_3128dup (p.Val1042_Glu1043insAspLysMetVal)
|
|
|
NM_001042492.3(NF1):c.3118A>G (p.Lys1040Glu)
|
rs1555614619
|
|
NM_001042492.3(NF1):c.3119A>G (p.Lys1040Arg)
|
rs2067101256
|
|
NM_001042492.3(NF1):c.3121A>C (p.Met1041Leu)
|
|
|
NM_001042492.3(NF1):c.3121A>G (p.Met1041Val)
|
|
|
NM_001042492.3(NF1):c.3122T>A (p.Met1041Lys)
|
rs2151432359
|
|
NM_001042492.3(NF1):c.3129A>C (p.Glu1043Asp)
|
rs1597717530
|
|
NM_001042492.3(NF1):c.3131A>G (p.Tyr1044Cys)
|
rs747274278
|
|
NM_001042492.3(NF1):c.3134T>C (p.Leu1045Pro)
|
rs1567850142
|
|
NM_001042492.3(NF1):c.3140A>G (p.Asp1047Gly)
|
rs1555614631
|
|
NM_001042492.3(NF1):c.3140A>T (p.Asp1047Val)
|
rs1555614631
|
|
NM_001042492.3(NF1):c.3140_3142dup (p.Asp1047_Trp1048insTyr)
|
rs2067101647
|
|
NM_001042492.3(NF1):c.3145G>A (p.Val1049Ile)
|
rs1060500343
|
|
NM_001042492.3(NF1):c.3145G>T (p.Val1049Phe)
|
|
|
NM_001042492.3(NF1):c.3148A>G (p.Met1050Val)
|
rs2067101757
|
|
NM_001042492.3(NF1):c.3149T>A (p.Met1050Lys)
|
rs1597717585
|
|
NM_001042492.3(NF1):c.3149T>C (p.Met1050Thr)
|
|
|
NM_001042492.3(NF1):c.3150G>A (p.Met1050Ile)
|
rs1555614639
|
|
NM_001042492.3(NF1):c.3154A>G (p.Thr1052Ala)
|
rs1597717598
|
|
NM_001042492.3(NF1):c.3155C>T (p.Thr1052Ile)
|
rs2067101916
|
|
NM_001042492.3(NF1):c.3162C>G (p.Asn1054Lys)
|
|
|
NM_001042492.3(NF1):c.3163C>G (p.Gln1055Glu)
|
rs866069972
|
|
NM_001042492.3(NF1):c.3167C>T (p.Ala1056Val)
|
rs759655189
|
|
NM_001042492.3(NF1):c.3169G>A (p.Ala1057Thr)
|
rs1367746167
|
|
NM_001042492.3(NF1):c.3169G>T (p.Ala1057Ser)
|
rs1367746167
|
|
NM_001042492.3(NF1):c.3170C>A (p.Ala1057Glu)
|
rs2151432494
|
|
NM_001042492.3(NF1):c.3171A>G (p.Ala1057=)
|
rs2067102269
|
|
NM_001042492.3(NF1):c.3172G>A (p.Asp1058Asn)
|
rs1597717634
|
|
NM_001042492.3(NF1):c.3173A>G (p.Asp1058Gly)
|
rs1387858614
|
|
NM_001042492.3(NF1):c.3173_3174delinsCA (p.Asp1058Ala)
|
rs2067102400
|
|
NM_001042492.3(NF1):c.3176A>G (p.Asp1059Gly)
|
rs1597717658
|
|
NM_001042492.3(NF1):c.3176A>T (p.Asp1059Val)
|
rs1597717658
|
|
NM_001042492.3(NF1):c.3179A>G (p.Asp1060Gly)
|
rs1597717664
|
|
NM_001042492.3(NF1):c.3179A>T (p.Asp1060Val)
|
rs1597717664
|
|
NM_001042492.3(NF1):c.3180T>G (p.Asp1060Glu)
|
rs1555614646
|
|
NM_001042492.3(NF1):c.3182T>C (p.Val1061Ala)
|
|
|
NM_001042492.3(NF1):c.3184A>G (p.Lys1062Glu)
|
rs2151432521
|
|
NM_001042492.3(NF1):c.3185A>G (p.Lys1062Arg)
|
|
|
NM_001042492.3(NF1):c.3185A>T (p.Lys1062Ile)
|
rs1314168961
|
|
NM_001042492.3(NF1):c.3187T>C (p.Cys1063Arg)
|
rs776079267
|
|
NM_001042492.3(NF1):c.3190C>T (p.Leu1064Phe)
|
rs2067102829
|
|
NM_001042492.3(NF1):c.3191T>C (p.Leu1064Pro)
|
|
|
NM_001042492.3(NF1):c.3194C>A (p.Thr1065Lys)
|
rs2067102897
|
|
NM_001042492.3(NF1):c.3195A>C (p.Thr1065=)
|
rs1555614650
|
|
NM_001042492.3(NF1):c.3196A>G (p.Arg1066Gly)
|
rs2067102998
|
|
NM_001042492.3(NF1):c.3197+3A>T
|
rs1359512152
|
|
NM_001042492.3(NF1):c.3197G>A (p.Arg1066Lys)
|
rs1555614652
|
|
NM_001042492.3(NF1):c.3197G>T (p.Arg1066Ile)
|
rs1555614652
|
|
NM_001042492.3(NF1):c.3198-2A>G
|
rs1131691089
|
|
NM_001042492.3(NF1):c.3198-312_3198-297del
|
|
|
NM_001042492.3(NF1):c.3198-3C>A
|
rs777759972
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insAT
|
rs745559136
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insTTGT
|
rs745559136
|
|
NM_001042492.3(NF1):c.3198-5T>G
|
rs587782639
|
|
NM_001042492.3(NF1):c.3198-7_3198-4del
|
rs371047262
|
|
NM_001042492.3(NF1):c.3198-8_3198-4del
|
rs371047262
|
|
NM_001042492.3(NF1):c.3198A>T (p.Arg1066Ser)
|
rs864622469
|
|
NM_001042492.3(NF1):c.3199G>A (p.Asp1067Asn)
|
|
|
NM_001042492.3(NF1):c.319A>G (p.Thr107Ala)
|
rs2065792343
|
|
NM_001042492.3(NF1):c.3200A>G (p.Asp1067Gly)
|
rs746785904
|
|
NM_001042492.3(NF1):c.3204G>C (p.Leu1068Phe)
|
rs1258842007
|
|
NM_001042492.3(NF1):c.3209A>G (p.Gln1070Arg)
|
rs2151433679
|
|
NM_001042492.3(NF1):c.320C>T (p.Thr107Met)
|
rs1567817857
|
|
NM_001042492.3(NF1):c.3210_3212dup (p.Ala1071_Ser1072insAla)
|
|
|
NM_001042492.3(NF1):c.3211G>A (p.Ala1071Thr)
|
|
|
NM_001042492.3(NF1):c.3213A>G (p.Ala1071=)
|
rs786202077
|
|
NM_001042492.3(NF1):c.3215G>A (p.Ser1072Asn)
|
rs1597718741
|
|
NM_001042492.3(NF1):c.3216C>G (p.Ser1072Arg)
|
rs1567850647
|
|
NM_001042492.3(NF1):c.3218T>C (p.Met1073Thr)
|
rs1555614827
|
|
NM_001042492.3(NF1):c.3223G>T (p.Ala1075Ser)
|
rs1597718763
|
|
NM_001042492.3(NF1):c.3226G>A (p.Val1076Ile)
|
|
|
NM_001042492.3(NF1):c.3235C>T (p.Leu1079Phe)
|
|
|
NM_001042492.3(NF1):c.3238C>G (p.Leu1080Val)
|
rs1555614832
|
|
NM_001042492.3(NF1):c.323T>C (p.Met108Thr)
|
rs780233935
|
|
NM_001042492.3(NF1):c.3241G>A (p.Ala1081Thr)
|
rs1555614834
|
|
NM_001042492.3(NF1):c.3244G>C (p.Gly1082Arg)
|
rs2067123009
|
|
NM_001042492.3(NF1):c.3245G>A (p.Gly1082Asp)
|
|
|
NM_001042492.3(NF1):c.3245G>C (p.Gly1082Ala)
|
rs1555614839
|
|
NM_001042492.3(NF1):c.3245_3247del (p.Gly1082_Leu1083delinsVal)
|
rs1597718783
|
|
NM_001042492.3(NF1):c.3253C>G (p.Leu1085Val)
|
rs145323424
|
|
NM_001042492.3(NF1):c.3254T>C (p.Leu1085Pro)
|
|
|
NM_001042492.3(NF1):c.3256C>A (p.Gln1086Lys)
|
|
|
NM_001042492.3(NF1):c.3257A>G (p.Gln1086Arg)
|
|
|
NM_001042492.3(NF1):c.3265G>A (p.Glu1089Lys)
|
rs9907627
|
|
NM_001042492.3(NF1):c.3266A>G (p.Glu1089Gly)
|
|
|
NM_001042492.3(NF1):c.3268G>A (p.Gly1090Arg)
|
rs2151433819
|
|
NM_001042492.3(NF1):c.3271G>A (p.Asp1091Asn)
|
rs2151433824
|
|
NM_001042492.3(NF1):c.3272A>G (p.Asp1091Gly)
|
|
|
NM_001042492.3(NF1):c.3272A>T (p.Asp1091Val)
|
|
|
NM_001042492.3(NF1):c.3274G>A (p.Gly1092Ser)
|
rs1457169236
|
|
NM_001042492.3(NF1):c.3274G>C (p.Gly1092Arg)
|
rs1457169236
|
|
NM_001042492.3(NF1):c.3275G>A (p.Gly1092Asp)
|
rs1597718838
|
|
NM_001042492.3(NF1):c.3275G>C (p.Gly1092Ala)
|
|
|
NM_001042492.3(NF1):c.3278T>C (p.Val1093Ala)
|
rs2067124037
|
|
NM_001042492.3(NF1):c.3287T>C (p.Met1096Thr)
|
rs863224659
|
|
NM_001042492.3(NF1):c.3287_3295del (p.Met1096_Ala1098del)
|
|
|
NM_001042492.3(NF1):c.3290A>G (p.Glu1097Gly)
|
|
|
NM_001042492.3(NF1):c.3293C>T (p.Ala1098Val)
|
|
|
NM_001042492.3(NF1):c.3299C>T (p.Ser1100Leu)
|
rs2067124341
|
|
NM_001042492.3(NF1):c.32A>G (p.Gln11Arg)
|
|
|
NM_001042492.3(NF1):c.3304T>G (p.Leu1102Val)
|
|
|
NM_001042492.3(NF1):c.3310C>G (p.Leu1104Val)
|
rs140957113
|
|
NM_001042492.3(NF1):c.3310C>T (p.Leu1104Phe)
|
|
|
NM_001042492.3(NF1):c.3311T>C (p.Leu1104Pro)
|
rs2151433910
|
|
NM_001042492.3(NF1):c.3313A>G (p.Lys1105Glu)
|
rs1555614867
|
|
NM_001042492.3(NF1):c.3314A>G (p.Lys1105Arg)
|
|
|
NM_001042492.3(NF1):c.3315-11T>G
|
|
|
NM_001042492.3(NF1):c.3315-34_3315-4del
|
rs2151434319
|
|
NM_001042492.3(NF1):c.3315-3C>T
|
rs752318318
|
|
NM_001042492.3(NF1):c.3315A>G (p.Lys1105=)
|
rs1555614915
|
|
NM_001042492.3(NF1):c.3328T>A (p.Phe1110Ile)
|
rs2067134298
|
|
NM_001042492.3(NF1):c.3328T>C (p.Phe1110Leu)
|
rs2067134298
|
|
NM_001042492.3(NF1):c.3328T>G (p.Phe1110Val)
|
rs2067134298
|
|
NM_001042492.3(NF1):c.3330T>G (p.Phe1110Leu)
|
|
|
NM_001042492.3(NF1):c.3332T>C (p.Met1111Thr)
|
rs1555614920
|
|
NM_001042492.3(NF1):c.3334A>C (p.Asn1112His)
|
|
|
NM_001042492.3(NF1):c.3334A>G (p.Asn1112Asp)
|
|
|
NM_001042492.3(NF1):c.3335A>G (p.Asn1112Ser)
|
|
|
NM_001042492.3(NF1):c.3336C>A (p.Asn1112Lys)
|
rs1060500262
|
|
NM_001042492.3(NF1):c.3336C>G (p.Asn1112Lys)
|
rs1060500262
|
|
NM_001042492.3(NF1):c.3338T>C (p.Leu1113Pro)
|
rs2067134539
|
|
NM_001042492.3(NF1):c.333A>C (p.Lys111Asn)
|
|
|
NM_001042492.3(NF1):c.3346G>C (p.Asp1116His)
|
rs1555614932
|
|
NM_001042492.3(NF1):c.3347A>C (p.Asp1116Ala)
|
rs1597719439
|
|
NM_001042492.3(NF1):c.334C>G (p.Gln112Glu)
|
|
|
NM_001042492.3(NF1):c.3350G>T (p.Cys1117Phe)
|
|
|
NM_001042492.3(NF1):c.3358G>A (p.Val1120Ile)
|
rs200594167
|
|
NM_001042492.3(NF1):c.3358G>T (p.Val1120Phe)
|
rs200594167
|
|
NM_001042492.3(NF1):c.3359T>A (p.Val1120Asp)
|
|
|
NM_001042492.3(NF1):c.3361G>A (p.Glu1121Lys)
|
rs1567851029
|
|
NM_001042492.3(NF1):c.3363_3365del (p.Glu1121del)
|
rs2067135101
|
|
NM_001042492.3(NF1):c.3365A>G (p.Asp1122Gly)
|
rs1597719461
|
|
NM_001042492.3(NF1):c.3366T>G (p.Asp1122Glu)
|
|
|
NM_001042492.3(NF1):c.3368A>G (p.Glu1123Gly)
|
rs1410465727
|
|
NM_001042492.3(NF1):c.3369A>T (p.Glu1123Asp)
|
rs2151434565
|
|
NM_001042492.3(NF1):c.3371G>T (p.Ser1124Ile)
|
rs374472758
|
|
NM_001042492.3(NF1):c.3374C>G (p.Ala1125Gly)
|
rs902739109
|
|
NM_001042492.3(NF1):c.337T>A (p.Leu113Met)
|
|
|
NM_001042492.3(NF1):c.3383G>A (p.Gly1128Asp)
|
rs1060500325
|
|
NM_001042492.3(NF1):c.3383G>C (p.Gly1128Ala)
|
rs1060500325
|
|
NM_001042492.3(NF1):c.3383_3384insAACTTTTTG (p.Gly1128_Gly1129insThrPheCys)
|
|
|
NM_001042492.3(NF1):c.3387C>T (p.Gly1129=)
|
rs1369392487
|
|
NM_001042492.3(NF1):c.3391A>C (p.Lys1131Gln)
|
rs2067135932
|
|
NM_001042492.3(NF1):c.3394C>G (p.Arg1132Gly)
|
rs587781725
|
|
NM_001042492.3(NF1):c.3395G>T (p.Arg1132Leu)
|
|
|
NM_001042492.3(NF1):c.339G>C (p.Leu113Phe)
|
|
|
NM_001042492.3(NF1):c.33G>C (p.Gln11His)
|
|
|
NM_001042492.3(NF1):c.3400A>G (p.Met1134Val)
|
rs1597719532
|
|
NM_001042492.3(NF1):c.3402G>A (p.Met1134Ile)
|
rs587782701
|
|
NM_001042492.3(NF1):c.3404C>T (p.Ser1135Phe)
|
rs1555614952
|
|
NM_001042492.3(NF1):c.3406C>T (p.Arg1136Trp)
|
rs1341314304
|
|
NM_001042492.3(NF1):c.3407G>A (p.Arg1136Gln)
|
rs868407539
|
|
NM_001042492.3(NF1):c.3407G>C (p.Arg1136Pro)
|
rs868407539
|
|
NM_001042492.3(NF1):c.3411G>C (p.Arg1137Ser)
|
|
|
NM_001042492.3(NF1):c.3412C>T (p.Leu1138=)
|
rs1555614958
|
|
NM_001042492.3(NF1):c.3416C>A (p.Ala1139Glu)
|
rs1555614960
|
|
NM_001042492.3(NF1):c.341T>C (p.Leu114Pro)
|
|
|
NM_001042492.3(NF1):c.3425G>A (p.Arg1142Lys)
|
|
|
NM_001042492.3(NF1):c.3428A>G (p.His1143Arg)
|
rs1555614965
|
|
NM_001042492.3(NF1):c.3429C>A (p.His1143Gln)
|
rs2151434709
|
|
NM_001042492.3(NF1):c.3430T>C (p.Cys1144Arg)
|
rs2067136902
|
|
NM_001042492.3(NF1):c.3431G>C (p.Cys1144Ser)
|
|
|
NM_001042492.3(NF1):c.3433A>G (p.Thr1145Ala)
|
rs1450606511
|
|
NM_001042492.3(NF1):c.3437T>A (p.Val1146Asp)
|
rs2067137147
|
|
NM_001042492.3(NF1):c.343C>G (p.Pro115Ala)
|
|
|
NM_001042492.3(NF1):c.3442G>A (p.Ala1148Thr)
|
|
|
NM_001042492.3(NF1):c.3442G>C (p.Ala1148Pro)
|
rs2067137289
|
|
NM_001042492.3(NF1):c.3445A>T (p.Met1149Leu)
|
rs1187097568
|
|
NM_001042492.3(NF1):c.3448T>C (p.Ser1150Pro)
|
rs2067137547
|
|
NM_001042492.3(NF1):c.3449C>T (p.Ser1150Leu)
|
rs1555614972
|
|
NM_001042492.3(NF1):c.3451A>G (p.Asn1151Asp)
|
rs1567851125
|
|
NM_001042492.3(NF1):c.3452_3457del (p.Asn1151_Leu1153delinsIle)
|
rs2067137679
|
|
NM_001042492.3(NF1):c.3453_3461dup (p.Asn1154_Ala1155insLeuLeuAsn)
|
|
|
NM_001042492.3(NF1):c.3454T>G (p.Leu1152Val)
|
rs771258163
|
|
NM_001042492.3(NF1):c.3456A>C (p.Leu1152Phe)
|
|
|
NM_001042492.3(NF1):c.3458T>C (p.Leu1153Pro)
|
|
|
NM_001042492.3(NF1):c.3460A>G (p.Asn1154Asp)
|
rs2067137878
|
|
NM_001042492.3(NF1):c.3461A>C (p.Asn1154Thr)
|
|
|
NM_001042492.3(NF1):c.3462T>A (p.Asn1154Lys)
|
rs2067137994
|
|
NM_001042492.3(NF1):c.3463G>A (p.Ala1155Thr)
|
|
|
NM_001042492.3(NF1):c.3464C>G (p.Ala1155Gly)
|
rs1597719654
|
|
NM_001042492.3(NF1):c.3464C>T (p.Ala1155Val)
|
|
|
NM_001042492.3(NF1):c.3466A>C (p.Asn1156His)
|
|
|
NM_001042492.3(NF1):c.3470T>C (p.Val1157Ala)
|
rs2151434814
|
|
NM_001042492.3(NF1):c.3472G>A (p.Asp1158Asn)
|
rs2151434821
|
|
NM_001042492.3(NF1):c.3473A>G (p.Asp1158Gly)
|
rs2151434824
|
|
NM_001042492.3(NF1):c.3475A>G (p.Ser1159Gly)
|
rs2067138274
|
|
NM_001042492.3(NF1):c.3475_3476insCTCACCTATGGA (p.Asp1158_Ser1159insThrHisLeuTrp)
|
|
|
NM_001042492.3(NF1):c.3476G>C (p.Ser1159Thr)
|
rs2151434835
|
|
NM_001042492.3(NF1):c.3478G>C (p.Gly1160Arg)
|
|
|
NM_001042492.3(NF1):c.3479G>T (p.Gly1160Val)
|
|
|
NM_001042492.3(NF1):c.3484A>C (p.Met1162Leu)
|
|
|
NM_001042492.3(NF1):c.3484A>T (p.Met1162Leu)
|
rs773968270
|
|
NM_001042492.3(NF1):c.3486G>T (p.Met1162Ile)
|
|
|
NM_001042492.3(NF1):c.348A>C (p.Glu116Asp)
|
rs1231174547
|
|
NM_001042492.3(NF1):c.3494T>C (p.Ile1165Thr)
|
rs786204211
|
|
NM_001042492.3(NF1):c.3496+3G>A
|
rs1060500287
|
|
NM_001042492.3(NF1):c.3496+3G>C
|
|
|
NM_001042492.3(NF1):c.3496+4A>G
|
|
|
NM_001042492.3(NF1):c.3496+5G>A
|
rs786202564
|
|
NM_001042492.3(NF1):c.3496+5G>T
|
|
|
NM_001042492.3(NF1):c.3496+6A>C
|
rs2151434908
|
|
NM_001042492.3(NF1):c.3497-16T>A
|
|
|
NM_001042492.3(NF1):c.3497-3T>C
|
rs2067140936
|
|
NM_001042492.3(NF1):c.3497G>T (p.Gly1166Val)
|
|
|
NM_001042492.3(NF1):c.349A>G (p.Ile117Val)
|
rs1597635759
|
|
NM_001042492.3(NF1):c.34G>A (p.Ala12Thr)
|
|
|
NM_001042492.3(NF1):c.3501A>C (p.Leu1167Phe)
|
rs1555615008
|
|
NM_001042492.3(NF1):c.3505T>C (p.Tyr1169His)
|
rs2067141225
|
|
NM_001042492.3(NF1):c.3506A>C (p.Tyr1169Ser)
|
rs1555615014
|
|
NM_001042492.3(NF1):c.3506A>G (p.Tyr1169Cys)
|
rs1555615014
|
|
NM_001042492.3(NF1):c.3512A>G (p.Lys1171Arg)
|
|
|
NM_001042492.3(NF1):c.3515A>G (p.Asp1172Gly)
|
rs1555615017
|
|
NM_001042492.3(NF1):c.3516T>A (p.Asp1172Glu)
|
rs2067141430
|
|
NM_001042492.3(NF1):c.3517C>T (p.Leu1173Phe)
|
rs1060500375
|
|
NM_001042492.3(NF1):c.3518T>C (p.Leu1173Pro)
|
rs2151435305
|
|
NM_001042492.3(NF1):c.3521A>G (p.Gln1174Arg)
|
rs1135402843
|
|
NM_001042492.3(NF1):c.3522G>T (p.Gln1174His)
|
rs2151435319
|
|
NM_001042492.3(NF1):c.3526A>G (p.Arg1176Gly)
|
rs2067141694
|
|
NM_001042492.3(NF1):c.3528A>C (p.Arg1176Ser)
|
|
|
NM_001042492.3(NF1):c.3530C>T (p.Ala1177Val)
|
rs1597719920
|
|
NM_001042492.3(NF1):c.3532A>T (p.Thr1178Ser)
|
rs2067141791
|
|
NM_001042492.3(NF1):c.3533C>A (p.Thr1178Lys)
|
rs1555615025
|
|
NM_001042492.3(NF1):c.3533_3538del (p.Thr1178_Phe1179del)
|
|
|
NM_001042492.3(NF1):c.3538A>G (p.Met1180Val)
|
rs786203658
|
|
NM_001042492.3(NF1):c.3538A>T (p.Met1180Leu)
|
rs786203658
|
|
NM_001042492.3(NF1):c.3540G>A (p.Met1180Ile)
|
|
|
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala)
|
rs2067142076
|
|
NM_001042492.3(NF1):c.3545T>G (p.Val1182Gly)
|
|
|
NM_001042492.3(NF1):c.3548T>C (p.Leu1183Pro)
|
rs1555615028
|
|
NM_001042492.3(NF1):c.3550A>G (p.Thr1184Ala)
|
rs2151435398
|
|
NM_001042492.3(NF1):c.3551C>G (p.Thr1184Arg)
|
rs752850053
|
|
NM_001042492.3(NF1):c.3553A>G (p.Lys1185Glu)
|
rs2151435410
|
|
NM_001042492.3(NF1):c.3556A>T (p.Ile1186Phe)
|
|
|
NM_001042492.3(NF1):c.3559C>G (p.Leu1187Val)
|
|
|
NM_001042492.3(NF1):c.3559C>T (p.Leu1187Phe)
|
rs2067142260
|
|
NM_001042492.3(NF1):c.355C>A (p.His119Asn)
|
rs1555606066
|
|
NM_001042492.3(NF1):c.355C>T (p.His119Tyr)
|
rs1555606066
|
|
NM_001042492.3(NF1):c.3564A>T (p.Gln1188His)
|
|
|
NM_001042492.3(NF1):c.3567A>G (p.Gln1189=)
|
|
|
NM_001042492.3(NF1):c.356A>G (p.His119Arg)
|
rs150080742
|
|
NM_001042492.3(NF1):c.3578T>C (p.Phe1193Ser)
|
rs199474780
|
|
NM_001042492.3(NF1):c.3581A>G (p.Asp1194Gly)
|
|
|
NM_001042492.3(NF1):c.3584C>T (p.Thr1195Ile)
|
|
|
NM_001042492.3(NF1):c.3589G>A (p.Ala1197Thr)
|
rs2151435523
|
|
NM_001042492.3(NF1):c.3590C>T (p.Ala1197Val)
|
rs370820478
|
|
NM_001042492.3(NF1):c.3592G>C (p.Glu1198Gln)
|
|
|
NM_001042492.3(NF1):c.3593A>G (p.Glu1198Gly)
|
|
|
NM_001042492.3(NF1):c.3595A>G (p.Thr1199Ala)
|
rs1453504440
|
|
NM_001042492.3(NF1):c.3596C>G (p.Thr1199Arg)
|
rs1555615047
|
|
NM_001042492.3(NF1):c.3598G>A (p.Val1200Ile)
|
rs1597720021
|
|
NM_001042492.3(NF1):c.3598G>T (p.Val1200Leu)
|
rs1597720021
|
|
NM_001042492.3(NF1):c.3599T>C (p.Val1200Ala)
|
|
|
NM_001042492.3(NF1):c.359T>C (p.Phe120Ser)
|
|
|
NM_001042492.3(NF1):c.35C>T (p.Ala12Val)
|
rs1911554964
|
|
NM_001042492.3(NF1):c.3602T>C (p.Leu1201Ser)
|
|
|
NM_001042492.3(NF1):c.3607G>A (p.Asp1203Asn)
|
rs1555615051
|
|
NM_001042492.3(NF1):c.3608A>T (p.Asp1203Val)
|
|
|
NM_001042492.3(NF1):c.360T>G (p.Phe120Leu)
|
|
|
NM_001042492.3(NF1):c.3613T>G (p.Phe1205Val)
|
|
|
NM_001042492.3(NF1):c.3614T>G (p.Phe1205Cys)
|
rs1597720068
|
|
NM_001042492.3(NF1):c.3617A>G (p.Glu1206Gly)
|
rs1597720070
|
|
NM_001042492.3(NF1):c.3623T>C (p.Leu1208Ser)
|
rs1060500374
|
|
NM_001042492.3(NF1):c.3625G>C (p.Val1209Leu)
|
rs1458579232
|
|
NM_001042492.3(NF1):c.3625G>T (p.Val1209Leu)
|
rs1458579232
|
|
NM_001042492.3(NF1):c.3632T>C (p.Leu1211Pro)
|
|
|
NM_001042492.3(NF1):c.3632T>G (p.Leu1211Arg)
|
rs1135402845
|
|
NM_001042492.3(NF1):c.3634G>A (p.Val1212Ile)
|
rs1597720116
|
|
NM_001042492.3(NF1):c.3635T>A (p.Val1212Asp)
|
|
|
NM_001042492.3(NF1):c.3637A>T (p.Thr1213Ser)
|
|
|
NM_001042492.3(NF1):c.3643A>G (p.Met1215Val)
|
rs2067143915
|
|
NM_001042492.3(NF1):c.3644T>C (p.Met1215Thr)
|
rs1555615071
|
|
NM_001042492.3(NF1):c.3646G>T (p.Gly1216Cys)
|
rs1567851424
|
|
NM_001042492.3(NF1):c.3647G>A (p.Gly1216Asp)
|
|
|
NM_001042492.3(NF1):c.364C>T (p.His122Tyr)
|
rs587782107
|
|
NM_001042492.3(NF1):c.3653A>C (p.Gln1218Pro)
|
rs876659541
|
|
NM_001042492.3(NF1):c.3653A>G (p.Gln1218Arg)
|
rs876659541
|
|
NM_001042492.3(NF1):c.3655G>C (p.Gly1219Arg)
|
rs2067144197
|
|
NM_001042492.3(NF1):c.3656_3658del (p.Gly1219del)
|
rs1555615077
|
|
NM_001042492.3(NF1):c.3658G>A (p.Glu1220Lys)
|
rs1597720155
|
|
NM_001042492.3(NF1):c.3658G>C (p.Glu1220Gln)
|
rs1597720155
|
|
NM_001042492.3(NF1):c.3659A>C (p.Glu1220Ala)
|
rs2067144350
|
|
NM_001042492.3(NF1):c.3660A>T (p.Glu1220Asp)
|
rs1597720161
|
|
NM_001042492.3(NF1):c.3664C>G (p.Pro1222Ala)
|
rs1555615088
|
|
NM_001042492.3(NF1):c.3664C>T (p.Pro1222Ser)
|
rs1555615088
|
|
NM_001042492.3(NF1):c.3665C>G (p.Pro1222Arg)
|
|
|
NM_001042492.3(NF1):c.3667A>G (p.Ile1223Val)
|
rs1567851470
|
|
NM_001042492.3(NF1):c.366C>G (p.His122Gln)
|
rs138952888
|
|
NM_001042492.3(NF1):c.3671C>G (p.Ala1224Gly)
|
rs1060500340
|
|
NM_001042492.3(NF1):c.3671C>T (p.Ala1224Val)
|
rs1060500340
|
|
NM_001042492.3(NF1):c.3673A>G (p.Met1225Val)
|
rs770837892
|
|
NM_001042492.3(NF1):c.3674T>C (p.Met1225Thr)
|
|
|
NM_001042492.3(NF1):c.3678_3683del (p.Leu1227_Ala1228del)
|
rs2151435745
|
|
NM_001042492.3(NF1):c.3679C>G (p.Leu1227Val)
|
rs876660431
|
|
NM_001042492.3(NF1):c.3683C>T (p.Ala1228Val)
|
rs1060500315
|
|
NM_001042492.3(NF1):c.3685A>G (p.Asn1229Asp)
|
rs1555615102
|
|
NM_001042492.3(NF1):c.3685A>T (p.Asn1229Tyr)
|
rs1555615102
|
|
NM_001042492.3(NF1):c.3686A>C (p.Asn1229Thr)
|
rs140523180
|
|
NM_001042492.3(NF1):c.368C>A (p.Thr123Asn)
|
rs878853886
|
|
NM_001042492.3(NF1):c.368C>G (p.Thr123Ser)
|
|
|
NM_001042492.3(NF1):c.368C>T (p.Thr123Ile)
|
rs878853886
|
|
NM_001042492.3(NF1):c.3691G>A (p.Val1231Ile)
|
|
|
NM_001042492.3(NF1):c.3695C>T (p.Pro1232Leu)
|
rs2067145287
|
|
NM_001042492.3(NF1):c.3697T>C (p.Cys1233Arg)
|
rs2151435803
|
|
NM_001042492.3(NF1):c.3698G>A (p.Cys1233Tyr)
|
|
|
NM_001042492.3(NF1):c.3698G>C (p.Cys1233Ser)
|
rs2067145365
|
|
NM_001042492.3(NF1):c.3701C>T (p.Ser1234Phe)
|
|
|
NM_001042492.3(NF1):c.3708+3A>G
|
rs1555615114
|
|
NM_001042492.3(NF1):c.3708+3_3708+6del
|
rs2151435840
|
|
NM_001042492.3(NF1):c.3708+4A>G
|
rs2067145705
|
|
NM_001042492.3(NF1):c.3708+5G>C
|
rs1597720280
|
|
NM_001042492.3(NF1):c.3709-3C>A
|
rs1555615430
|
|
NM_001042492.3(NF1):c.3709-3C>T
|
rs1555615430
|
|
NM_001042492.3(NF1):c.370T>A (p.Cys124Ser)
|
rs1555606074
|
|
NM_001042492.3(NF1):c.3711T>G (p.Asp1237Glu)
|
rs876659917
|
|
NM_001042492.3(NF1):c.3712G>A (p.Glu1238Lys)
|
|
|
NM_001042492.3(NF1):c.3712G>C (p.Glu1238Gln)
|
rs1060500346
|
|
NM_001042492.3(NF1):c.3718G>T (p.Ala1240Ser)
|
rs2151437719
|
|
NM_001042492.3(NF1):c.3719C>T (p.Ala1240Val)
|
rs2067185676
|
|
NM_001042492.3(NF1):c.3721C>G (p.Arg1241Gly)
|
rs137854562
|
|
NM_001042492.3(NF1):c.3722G>C (p.Arg1241Pro)
|
rs543387071
|
|
NM_001042492.3(NF1):c.3725T>C (p.Val1242Ala)
|
|
|
NM_001042492.3(NF1):c.3725T>G (p.Val1242Gly)
|
rs2067185801
|
|
NM_001042492.3(NF1):c.3733A>C (p.Thr1245Pro)
|
|
|
NM_001042492.3(NF1):c.3733A>G (p.Thr1245Ala)
|
rs786203616
|
|
NM_001042492.3(NF1):c.3733A>T (p.Thr1245Ser)
|
rs786203616
|
|
NM_001042492.3(NF1):c.3734_3735delinsTC (p.Thr1245Ile)
|
rs2151437761
|
|
NM_001042492.3(NF1):c.3736C>G (p.Leu1246Val)
|
rs1567852501
|
|
NM_001042492.3(NF1):c.373C>G (p.Arg125Gly)
|
rs876659418
|
|
NM_001042492.3(NF1):c.373C>T (p.Arg125Cys)
|
rs876659418
|
|
NM_001042492.3(NF1):c.373_375del (p.Arg125del)
|
rs2143671923
|
|
NM_001042492.3(NF1):c.3740T>G (p.Phe1247Cys)
|
|
|
NM_001042492.3(NF1):c.3743A>G (p.Asp1248Gly)
|
rs2067186495
|
|
NM_001042492.3(NF1):c.3745T>C (p.Ser1249Pro)
|
|
|
NM_001042492.3(NF1):c.3746C>G (p.Ser1249Cys)
|
|
|
NM_001042492.3(NF1):c.3748C>A (p.Arg1250=)
|
|
|
NM_001042492.3(NF1):c.3748C>G (p.Arg1250Gly)
|
|
|
NM_001042492.3(NF1):c.3749G>T (p.Arg1250Leu)
|
rs199474765
|
|
NM_001042492.3(NF1):c.374G>T (p.Arg125Leu)
|
rs149003051
|
|
NM_001042492.3(NF1):c.3752A>C (p.His1251Pro)
|
rs1567852526
|
|
NM_001042492.3(NF1):c.3752A>G (p.His1251Arg)
|
rs1567852526
|
|
NM_001042492.3(NF1):c.3753T>A (p.His1251Gln)
|
rs1597722470
|
|
NM_001042492.3(NF1):c.3757C>G (p.Leu1253Val)
|
rs2067186931
|
|
NM_001042492.3(NF1):c.3757C>T (p.Leu1253Phe)
|
rs2067186931
|
|
NM_001042492.3(NF1):c.3759_3767del (p.Tyr1254_Leu1256del)
|
rs1597722477
|
|
NM_001042492.3(NF1):c.3760T>C (p.Tyr1254His)
|
rs2067186968
|
|
NM_001042492.3(NF1):c.3761A>C (p.Tyr1254Ser)
|
|
|
NM_001042492.3(NF1):c.3763C>G (p.Gln1255Glu)
|
|
|
NM_001042492.3(NF1):c.3764A>G (p.Gln1255Arg)
|
rs1555615453
|
|
NM_001042492.3(NF1):c.3765A>C (p.Gln1255His)
|
rs766896025
|
|
NM_001042492.3(NF1):c.3765A>T (p.Gln1255His)
|
rs766896025
|
|
NM_001042492.3(NF1):c.3767T>G (p.Leu1256Arg)
|
rs1555615457
|
|
NM_001042492.3(NF1):c.3769C>A (p.Leu1257Ile)
|
rs2151437853
|
|
NM_001042492.3(NF1):c.3769C>T (p.Leu1257Phe)
|
|
|
NM_001042492.3(NF1):c.3776A>G (p.Asn1259Ser)
|
rs2151437868
|
|
NM_001042492.3(NF1):c.3779T>C (p.Met1260Thr)
|
rs1555615463
|
|
NM_001042492.3(NF1):c.3784T>G (p.Ser1262Ala)
|
rs2067187603
|
|
NM_001042492.3(NF1):c.3787A>G (p.Lys1263Glu)
|
|
|
NM_001042492.3(NF1):c.3791A>G (p.Glu1264Gly)
|
rs200603400
|
|
NM_001042492.3(NF1):c.3793G>A (p.Val1265Ile)
|
rs2151437905
|
|
NM_001042492.3(NF1):c.3793G>T (p.Val1265Leu)
|
rs2151437905
|
|
NM_001042492.3(NF1):c.3794_3796del (p.Val1265del)
|
rs2067187885
|
|
NM_001042492.3(NF1):c.379_380delinsTT (p.Gly127Leu)
|
rs2143672112
|
|
NM_001042492.3(NF1):c.3801G>T (p.Leu1267Phe)
|
rs786201366
|
|
NM_001042492.3(NF1):c.3802G>T (p.Ala1268Ser)
|
rs758051144
|
|
NM_001042492.3(NF1):c.3803C>G (p.Ala1268Gly)
|
rs2067188136
|
|
NM_001042492.3(NF1):c.3803C>T (p.Ala1268Val)
|
rs2067188136
|
|
NM_001042492.3(NF1):c.3805G>A (p.Asp1269Asn)
|
|
|
NM_001042492.3(NF1):c.3806A>G (p.Asp1269Gly)
|
rs2151437934
|
|
NM_001042492.3(NF1):c.3808T>A (p.Ser1270Thr)
|
rs1597722567
|
|
NM_001042492.3(NF1):c.380G>A (p.Gly127Glu)
|
|
|
NM_001042492.3(NF1):c.3811A>C (p.Met1271Leu)
|
rs746583007
|
|
NM_001042492.3(NF1):c.3812T>C (p.Met1271Thr)
|
rs876659801
|
|
NM_001042492.3(NF1):c.3813G>A (p.Met1271Ile)
|
rs876658565
|
|
NM_001042492.3(NF1):c.3813G>C (p.Met1271Ile)
|
rs876658565
|
|
NM_001042492.3(NF1):c.3814C>A (p.Gln1272Lys)
|
rs2067188361
|
|
NM_001042492.3(NF1):c.3815A>G (p.Gln1272Arg)
|
rs1597722580
|
|
NM_001042492.3(NF1):c.3815A>T (p.Gln1272Leu)
|
rs1597722580
|
|
NM_001042492.3(NF1):c.3817A>G (p.Thr1273Ala)
|
|
|
NM_001042492.3(NF1):c.3818C>A (p.Thr1273Asn)
|
|
|
NM_001042492.3(NF1):c.3818C>G (p.Thr1273Ser)
|
|
|
NM_001042492.3(NF1):c.3818C>T (p.Thr1273Ile)
|
|
|
NM_001042492.3(NF1):c.3818_3819delinsGA (p.Thr1273Arg)
|
rs2067188491
|
|
NM_001042492.3(NF1):c.3820C>T (p.Leu1274Phe)
|
rs2067188550
|
|
NM_001042492.3(NF1):c.3823T>G (p.Phe1275Val)
|
|
|
NM_001042492.3(NF1):c.3826_3827delinsGA (p.Arg1276Glu)
|
|
|
NM_001042492.3(NF1):c.3830G>A (p.Gly1277Asp)
|
|
|
NM_001042492.3(NF1):c.3830G>T (p.Gly1277Val)
|
rs1555615480
|
|
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=)
|
rs1597722611
|
|
NM_001042492.3(NF1):c.3833A>G (p.Asn1278Ser)
|
rs2067188951
|
|
NM_001042492.3(NF1):c.3836G>A (p.Ser1279Asn)
|
rs1170788683
|
|
NM_001042492.3(NF1):c.383A>G (p.Asn128Ser)
|
|
|
NM_001042492.3(NF1):c.3841G>A (p.Ala1281Thr)
|
rs2151438011
|
|
NM_001042492.3(NF1):c.3841G>C (p.Ala1281Pro)
|
rs2151438011
|
|
NM_001042492.3(NF1):c.3842C>A (p.Ala1281Asp)
|
|
|
NM_001042492.3(NF1):c.3842C>G (p.Ala1281Gly)
|
rs1060500341
|
|
NM_001042492.3(NF1):c.3844A>G (p.Ser1282Gly)
|
|
|
NM_001042492.3(NF1):c.3847A>G (p.Lys1283Glu)
|
|
|
NM_001042492.3(NF1):c.3849A>T (p.Lys1283Asn)
|
rs1597722644
|
|
NM_001042492.3(NF1):c.3850A>G (p.Ile1284Val)
|
rs775206529
|
|
NM_001042492.3(NF1):c.3852A>G (p.Ile1284Met)
|
rs1597722650
|
|
NM_001042492.3(NF1):c.3853A>C (p.Met1285Leu)
|
rs2151438030
|
|
NM_001042492.3(NF1):c.3853A>G (p.Met1285Val)
|
|
|
NM_001042492.3(NF1):c.3853A>T (p.Met1285Leu)
|
rs2151438030
|
|
NM_001042492.3(NF1):c.3854T>C (p.Met1285Thr)
|
|
|
NM_001042492.3(NF1):c.3854T>G (p.Met1285Arg)
|
rs2067189465
|
|
NM_001042492.3(NF1):c.3855G>T (p.Met1285Ile)
|
rs2067189497
|
|
NM_001042492.3(NF1):c.3857C>T (p.Thr1286Ile)
|
rs1060500306
|
|
NM_001042492.3(NF1):c.3859T>C (p.Phe1287Leu)
|
rs1434858786
|
|
NM_001042492.3(NF1):c.3859T>G (p.Phe1287Val)
|
rs1434858786
|
|
NM_001042492.3(NF1):c.3861C>A (p.Phe1287Leu)
|
rs749107019
|
|
NM_001042492.3(NF1):c.3863G>A (p.Cys1288Tyr)
|
rs1597722661
|
|
NM_001042492.3(NF1):c.3863G>T (p.Cys1288Phe)
|
|
|
NM_001042492.3(NF1):c.386A>T (p.Gln129Leu)
|
rs1060500250
|
|
NM_001042492.3(NF1):c.3871-15C>A
|
|
|
NM_001042492.3(NF1):c.3871-31_3871-8del
|
|
|
NM_001042492.3(NF1):c.3871-5T>G
|
rs1597722882
|
|
NM_001042492.3(NF1):c.3872T>C (p.Val1291Ala)
|
|
|
NM_001042492.3(NF1):c.3875A>G (p.Tyr1292Cys)
|
rs1060500243
|
|
NM_001042492.3(NF1):c.3877G>A (p.Gly1293Ser)
|
|
|
NM_001042492.3(NF1):c.3878G>A (p.Gly1293Asp)
|
rs2067193448
|
|
NM_001042492.3(NF1):c.387G>C (p.Gln129His)
|
rs1390215440
|
|
NM_001042492.3(NF1):c.3880G>A (p.Ala1294Thr)
|
rs2067193484
|
|
NM_001042492.3(NF1):c.3881C>T (p.Ala1294Val)
|
rs878853889
|
|
NM_001042492.3(NF1):c.3884C>T (p.Thr1295Ile)
|
rs2151438517
|
|
NM_001042492.3(NF1):c.3887A>G (p.Tyr1296Cys)
|
|
|
NM_001042492.3(NF1):c.3890T>C (p.Leu1297Pro)
|
rs1597722927
|
|
NM_001042492.3(NF1):c.3891_3899del (p.Gln1298_Leu1300del)
|
rs2151438534
|
|
NM_001042492.3(NF1):c.3895A>C (p.Lys1299Gln)
|
rs2067193845
|
|
NM_001042492.3(NF1):c.3896A>C (p.Lys1299Thr)
|
|
|
NM_001042492.3(NF1):c.3897A>T (p.Lys1299Asn)
|
|
|
NM_001042492.3(NF1):c.389A>G (p.His130Arg)
|
rs876660277
|
|
NM_001042492.3(NF1):c.389A>T (p.His130Leu)
|
rs876660277
|
|
NM_001042492.3(NF1):c.38T>C (p.Val13Ala)
|
rs1911556061
|
|
NM_001042492.3(NF1):c.3900_3902del (p.Leu1301del)
|
rs2067193878
|
|
NM_001042492.3(NF1):c.3902T>C (p.Leu1301Pro)
|
rs2151438576
|
|
NM_001042492.3(NF1):c.3904G>A (p.Asp1302Asn)
|
rs1597722958
|
|
NM_001042492.3(NF1):c.3905A>G (p.Asp1302Gly)
|
rs2067194038
|
|
NM_001042492.3(NF1):c.3906T>A (p.Asp1302Glu)
|
rs549058591
|
|
NM_001042492.3(NF1):c.390T>A (p.His130Gln)
|
rs1597635884
|
|
NM_001042492.3(NF1):c.3912A>T (p.Leu1304Phe)
|
rs2151438597
|
|
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)
|
rs376576925
|
|
NM_001042492.3(NF1):c.3917G>A (p.Arg1306Gln)
|
rs1306237220
|
|
NM_001042492.3(NF1):c.3920T>G (p.Ile1307Ser)
|
rs2067194362
|
|
NM_001042492.3(NF1):c.3921T>G (p.Ile1307Met)
|
rs876660805
|
|
NM_001042492.3(NF1):c.3925A>G (p.Ile1309Val)
|
rs1350012235
|
|
NM_001042492.3(NF1):c.3926T>A (p.Ile1309Asn)
|
rs1567852796
|
|
NM_001042492.3(NF1):c.3928A>G (p.Thr1310Ala)
|
|
|
NM_001042492.3(NF1):c.3929C>A (p.Thr1310Lys)
|
rs1555615554
|
|
NM_001042492.3(NF1):c.3929C>T (p.Thr1310Ile)
|
rs1555615554
|
|
NM_001042492.3(NF1):c.392C>T (p.Ala131Val)
|
rs1567817930
|
|
NM_001042492.3(NF1):c.3932C>A (p.Ser1311Tyr)
|
rs587782894
|
|
NM_001042492.3(NF1):c.3932C>T (p.Ser1311Phe)
|
rs587782894
|
|
NM_001042492.3(NF1):c.3937G>C (p.Asp1313His)
|
|
|
NM_001042492.3(NF1):c.393_394delinsCC (p.Ala132Pro)
|
rs2065794141
|
|
NM_001042492.3(NF1):c.3941G>T (p.Trp1314Leu)
|
|
|
NM_001042492.3(NF1):c.3944A>C (p.Gln1315Pro)
|
|
|
NM_001042492.3(NF1):c.3945A>C (p.Gln1315His)
|
|
|
NM_001042492.3(NF1):c.3946C>T (p.His1316Tyr)
|
rs1218464470
|
|
NM_001042492.3(NF1):c.3947A>C (p.His1316Pro)
|
rs751023085
|
|
NM_001042492.3(NF1):c.3947A>T (p.His1316Leu)
|
rs751023085
|
|
NM_001042492.3(NF1):c.3949G>A (p.Val1317Ile)
|
rs1555615560
|
|
NM_001042492.3(NF1):c.3949G>C (p.Val1317Leu)
|
rs1555615560
|
|
NM_001042492.3(NF1):c.394G>C (p.Ala132Pro)
|
|
|
NM_001042492.3(NF1):c.3950T>C (p.Val1317Ala)
|
|
|
NM_001042492.3(NF1):c.3952A>G (p.Ser1318Gly)
|
|
|
NM_001042492.3(NF1):c.3953G>C (p.Ser1318Thr)
|
|
|
NM_001042492.3(NF1):c.3955T>C (p.Phe1319Leu)
|
|
|
NM_001042492.3(NF1):c.3955T>G (p.Phe1319Val)
|
|
|
NM_001042492.3(NF1):c.3957T>G (p.Phe1319Leu)
|
|
|
NM_001042492.3(NF1):c.3958G>A (p.Glu1320Lys)
|
rs1273280025
|
|
NM_001042492.3(NF1):c.3959A>C (p.Glu1320Ala)
|
rs1555615562
|
|
NM_001042492.3(NF1):c.3959A>G (p.Glu1320Gly)
|
|
|
NM_001042492.3(NF1):c.3964G>A (p.Asp1322Asn)
|
rs1597723042
|
|
NM_001042492.3(NF1):c.3964G>C (p.Asp1322His)
|
rs1597723042
|
|
NM_001042492.3(NF1):c.3964G>T (p.Asp1322Tyr)
|
|
|
NM_001042492.3(NF1):c.3965A>C (p.Asp1322Ala)
|
rs1555615565
|
|
NM_001042492.3(NF1):c.3965A>G (p.Asp1322Gly)
|
|
|
NM_001042492.3(NF1):c.3965A>T (p.Asp1322Val)
|
rs1555615565
|
|
NM_001042492.3(NF1):c.3967C>G (p.Pro1323Ala)
|
rs2067195656
|
|
NM_001042492.3(NF1):c.3967C>T (p.Pro1323Ser)
|
rs2067195656
|
|
NM_001042492.3(NF1):c.3968C>G (p.Pro1323Arg)
|
|
|
NM_001042492.3(NF1):c.3968C>T (p.Pro1323Leu)
|
|
|
NM_001042492.3(NF1):c.3971C>T (p.Thr1324Ile)
|
rs2067195762
|
|
NM_001042492.3(NF1):c.3972C>T (p.Thr1324=)
|
rs1597723059
|
|
NM_001042492.3(NF1):c.3973A>T (p.Arg1325Trp)
|
|
|
NM_001042492.3(NF1):c.3974+3T>G
|
rs1597723069
|
|
NM_001042492.3(NF1):c.3975-2_4018dup
|
rs2151451269
|
|
NM_001042492.3(NF1):c.3975G>T (p.Arg1325Ser)
|
rs1597734999
|
|
NM_001042492.3(NF1):c.3978A>T (p.Leu1326Phe)
|
rs876660506
|
|
NM_001042492.3(NF1):c.397G>A (p.Glu133Lys)
|
rs2065794225
|
|
NM_001042492.3(NF1):c.3980A>G (p.Glu1327Gly)
|
rs2067447715
|
|
NM_001042492.3(NF1):c.3982C>T (p.Pro1328Ser)
|
rs2151451297
|
|
NM_001042492.3(NF1):c.3986C>T (p.Ser1329Leu)
|
rs1060500319
|
|
NM_001042492.3(NF1):c.3988G>A (p.Glu1330Lys)
|
rs1483311407
|
|
NM_001042492.3(NF1):c.3989A>G (p.Glu1330Gly)
|
rs1256727206
|
|
NM_001042492.3(NF1):c.3991A>G (p.Ser1331Gly)
|
rs1411796317
|
|
NM_001042492.3(NF1):c.3992G>A (p.Ser1331Asn)
|
rs1567858266
|
|
NM_001042492.3(NF1):c.3992G>C (p.Ser1331Thr)
|
rs1567858266
|
|
NM_001042492.3(NF1):c.3993C>G (p.Ser1331Arg)
|
rs2067448156
|
|
NM_001042492.3(NF1):c.3997G>A (p.Glu1333Lys)
|
rs2151451342
|
|
NM_001042492.3(NF1):c.3998A>G (p.Glu1333Gly)
|
rs200618072
|
|
NM_001042492.3(NF1):c.4000G>A (p.Glu1334Lys)
|
rs878853892
|
|
NM_001042492.3(NF1):c.4005C>G (p.Asn1335Lys)
|
rs2067448469
|
|
NM_001042492.3(NF1):c.4008G>C (p.Gln1336His)
|
|
|
NM_001042492.3(NF1):c.4008G>T (p.Gln1336His)
|
rs2067448530
|
|
NM_001042492.3(NF1):c.4010G>A (p.Arg1337Gln)
|
rs1060500379
|
|
NM_001042492.3(NF1):c.4011G>C (p.Arg1337=)
|
rs2067448681
|
|
NM_001042492.3(NF1):c.4012A>C (p.Asn1338His)
|
rs864622202
|
|
NM_001042492.3(NF1):c.4014C>A (p.Asn1338Lys)
|
|
|
NM_001042492.3(NF1):c.4014CCT[1] (p.Leu1340del)
|
rs863224834
|
|
NM_001042492.3(NF1):c.4016T>C (p.Leu1339Pro)
|
rs1567858306
|
|
NM_001042492.3(NF1):c.4018C>T (p.Leu1340Phe)
|
rs876658268
|
|
NM_001042492.3(NF1):c.4022A>G (p.Gln1341Arg)
|
rs1555617325
|
|
NM_001042492.3(NF1):c.4022A>T (p.Gln1341Leu)
|
rs1555617325
|
|
NM_001042492.3(NF1):c.4023G>C (p.Gln1341His)
|
|
|
NM_001042492.3(NF1):c.4025T>C (p.Met1342Thr)
|
rs1326621088
|
|
NM_001042492.3(NF1):c.4026G>A (p.Met1342Ile)
|
rs2067449278
|
|
NM_001042492.3(NF1):c.4029_4030insTTT (p.Thr1343_Glu1344insPhe)
|
|
|
NM_001042492.3(NF1):c.4034A>G (p.Lys1345Arg)
|
|
|
NM_001042492.3(NF1):c.4035G>C (p.Lys1345Asn)
|
|
|
NM_001042492.3(NF1):c.4036T>A (p.Phe1346Ile)
|
rs2151451451
|
|
NM_001042492.3(NF1):c.4038C>A (p.Phe1346Leu)
|
rs2067449447
|
|
NM_001042492.3(NF1):c.403_405del (p.Arg135del)
|
rs1597635919
|
|
NM_001042492.3(NF1):c.4043A>G (p.His1348Arg)
|
rs786201844
|
|
NM_001042492.3(NF1):c.4043A>T (p.His1348Leu)
|
rs786201844
|
|
NM_001042492.3(NF1):c.4045G>A (p.Ala1349Thr)
|
rs1555617332
|
|
NM_001042492.3(NF1):c.4045G>T (p.Ala1349Ser)
|
rs1555617332
|
|
NM_001042492.3(NF1):c.4046C>T (p.Ala1349Val)
|
rs1229215269
|
|
NM_001042492.3(NF1):c.4049T>C (p.Ile1350Thr)
|
|
|
NM_001042492.3(NF1):c.404G>T (p.Arg135Leu)
|
rs1060500244
|
|
NM_001042492.3(NF1):c.4051A>C (p.Ile1351Leu)
|
rs1233135542
|
|
NM_001042492.3(NF1):c.4052T>A (p.Ile1351Asn)
|
|
|
NM_001042492.3(NF1):c.4054A>T (p.Ser1352Cys)
|
rs1337343400
|
|
NM_001042492.3(NF1):c.4055G>T (p.Ser1352Ile)
|
rs876660908
|
|
NM_001042492.3(NF1):c.4058C>T (p.Ser1353Phe)
|
rs1555617346
|
|
NM_001042492.3(NF1):c.4060T>A (p.Ser1354Thr)
|
|
|
NM_001042492.3(NF1):c.4061C>A (p.Ser1354Tyr)
|
rs1555617348
|
|
NM_001042492.3(NF1):c.4061C>T (p.Ser1354Phe)
|
rs1555617348
|
|
NM_001042492.3(NF1):c.4067A>C (p.Glu1356Ala)
|
|
|
NM_001042492.3(NF1):c.4069T>A (p.Phe1357Ile)
|
rs1207255352
|
|
NM_001042492.3(NF1):c.4069T>C (p.Phe1357Leu)
|
rs1207255352
|
|
NM_001042492.3(NF1):c.4069T>G (p.Phe1357Val)
|
|
|
NM_001042492.3(NF1):c.4071C>A (p.Phe1357Leu)
|
|
|
NM_001042492.3(NF1):c.4071C>G (p.Phe1357Leu)
|
rs747272290
|
|
NM_001042492.3(NF1):c.4072C>T (p.Pro1358Ser)
|
rs1555617359
|
|
NM_001042492.3(NF1):c.4073C>T (p.Pro1358Leu)
|
rs2067450726
|
|
NM_001042492.3(NF1):c.4074_4075delinsAA (p.Pro1359Thr)
|
rs1555617362
|
|
NM_001042492.3(NF1):c.4075C>A (p.Pro1359Thr)
|
rs745931495
|
|
NM_001042492.3(NF1):c.4081C>A (p.Leu1361Ile)
|
|
|
NM_001042492.3(NF1):c.4081C>T (p.Leu1361Phe)
|
|
|
NM_001042492.3(NF1):c.4082T>G (p.Leu1361Arg)
|
|
|
NM_001042492.3(NF1):c.4084C>G (p.Arg1362Gly)
|
|
|
NM_001042492.3(NF1):c.4085G>A (p.Arg1362Gln)
|
rs540108477
|
|
NM_001042492.3(NF1):c.4085G>T (p.Arg1362Leu)
|
rs540108477
|
|
NM_001042492.3(NF1):c.4090G>A (p.Val1364Met)
|
rs749748720
|
|
NM_001042492.3(NF1):c.4093T>C (p.Cys1365Arg)
|
rs1364158639
|
|
NM_001042492.3(NF1):c.4096C>T (p.His1366Tyr)
|
|
|
NM_001042492.3(NF1):c.4097A>G (p.His1366Arg)
|
rs769042915
|
|
NM_001042492.3(NF1):c.4099T>C (p.Cys1367Arg)
|
rs2151451647
|
|
NM_001042492.3(NF1):c.40G>T (p.Val14Phe)
|
rs2143145306
|
|
NM_001042492.3(NF1):c.4100G>A (p.Cys1367Tyr)
|
rs2151451650
|
|
NM_001042492.3(NF1):c.4103T>C (p.Leu1368Ser)
|
rs1597735265
|
|
NM_001042492.3(NF1):c.4105T>C (p.Tyr1369His)
|
|
|
NM_001042492.3(NF1):c.4109A>C (p.Gln1370Pro)
|
rs1135402853
|
|
NM_001042492.3(NF1):c.410C>T (p.Ser137Phe)
|
rs1597635932
|
|
NM_001042492.3(NF1):c.4110+13T>G
|
|
|
NM_001042492.3(NF1):c.4110+3A>C
|
rs774669878
|
|
NM_001042492.3(NF1):c.4110+4T>A
|
rs587781700
|
|
NM_001042492.3(NF1):c.4110+4T>G
|
rs587781700
|
|
NM_001042492.3(NF1):c.4110+5_4110+8del
|
rs2067451835
|
|
NM_001042492.3(NF1):c.4110+6C>T
|
rs2067451891
|
|
NM_001042492.3(NF1):c.4110G>A (p.Gln1370=)
|
rs1135402854
|
|
NM_001042492.3(NF1):c.4110G>C (p.Gln1370His)
|
rs1135402854
|
|
NM_001042492.3(NF1):c.412G>A (p.Ala138Thr)
|
rs1597635936
|
|
NM_001042492.3(NF1):c.415T>G (p.Ser139Ala)
|
rs1555606096
|
|
NM_001042492.3(NF1):c.416C>G (p.Ser139Cys)
|
rs1262333812
|
|
NM_001042492.3(NF1):c.416C>T (p.Ser139Phe)
|
rs1262333812
|
|
NM_001042492.3(NF1):c.4174-15A>G
|
|
|
NM_001042492.3(NF1):c.4174-17_4174-16insCTTGTTTTTAGGTGGTTAGCCTAAA
|
rs2151461675
|
|
NM_001042492.3(NF1):c.4174-22A>G
|
|
|
NM_001042492.3(NF1):c.4177G>A (p.Val1393Ile)
|
|
|
NM_001042492.3(NF1):c.4178T>G (p.Val1393Gly)
|
rs769555730
|
|
NM_001042492.3(NF1):c.4181G>A (p.Ser1394Asn)
|
|
|
NM_001042492.3(NF1):c.4183C>G (p.Gln1395Glu)
|
|
|
NM_001042492.3(NF1):c.4184A>G (p.Gln1395Arg)
|
rs2151461782
|
|
NM_001042492.3(NF1):c.4186C>T (p.Arg1396Cys)
|
rs1555618495
|
|
NM_001042492.3(NF1):c.418G>A (p.Gly140Arg)
|
rs2065794781
|
|
NM_001042492.3(NF1):c.4191C>A (p.Phe1397Leu)
|
rs1555618498
|
|
NM_001042492.3(NF1):c.4191C>G (p.Phe1397Leu)
|
|
|
NM_001042492.3(NF1):c.4192C>T (p.Pro1398Ser)
|
|
|
NM_001042492.3(NF1):c.4193C>T (p.Pro1398Leu)
|
rs864622299
|
|
NM_001042492.3(NF1):c.4197G>C (p.Gln1399His)
|
rs1355988609
|
|
NM_001042492.3(NF1):c.4197G>T (p.Gln1399His)
|
rs1355988609
|
|
NM_001042492.3(NF1):c.4199A>G (p.Asn1400Ser)
|
|
|
NM_001042492.3(NF1):c.419G>A (p.Gly140Glu)
|
|
|
NM_001042492.3(NF1):c.41T>A (p.Val14Asp)
|
|
|
NM_001042492.3(NF1):c.41T>C (p.Val14Ala)
|
|
|
NM_001042492.3(NF1):c.4200C>G (p.Asn1400Lys)
|
|
|
NM_001042492.3(NF1):c.4201A>G (p.Ser1401Gly)
|
rs1060500310
|
|
NM_001042492.3(NF1):c.4202G>A (p.Ser1401Asn)
|
rs1060500249
|
|
NM_001042492.3(NF1):c.4202G>C (p.Ser1401Thr)
|
rs1060500249
|
|
NM_001042492.3(NF1):c.4202G>T (p.Ser1401Ile)
|
rs1060500249
|
|
NM_001042492.3(NF1):c.4207G>C (p.Gly1403Arg)
|
rs138227618
|
|
NM_001042492.3(NF1):c.4207G>T (p.Gly1403Cys)
|
|
|
NM_001042492.3(NF1):c.4208G>A (p.Gly1403Asp)
|
|
|
NM_001042492.3(NF1):c.4211C>T (p.Ala1404Val)
|
rs1060500257
|
|
NM_001042492.3(NF1):c.4211_4213dup (p.Ala1404dup)
|
rs2067621081
|
|
NM_001042492.3(NF1):c.4214T>C (p.Val1405Ala)
|
rs1186560791
|
|
NM_001042492.3(NF1):c.4217G>T (p.Gly1406Val)
|
rs1555618505
|
|
NM_001042492.3(NF1):c.4219A>C (p.Ser1407Arg)
|
|
|
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly)
|
rs587781755
|
|
NM_001042492.3(NF1):c.421G>A (p.Val141Ile)
|
rs2143672914
|
|
NM_001042492.3(NF1):c.4221T>G (p.Ser1407Arg)
|
rs2067621366
|
|
NM_001042492.3(NF1):c.4223C>A (p.Ala1408Asp)
|
rs2151461922
|
|
NM_001042492.3(NF1):c.4226T>C (p.Met1409Thr)
|
rs1555618508
|
|
NM_001042492.3(NF1):c.4226T>G (p.Met1409Arg)
|
rs1555618508
|
|
NM_001042492.3(NF1):c.4227G>A (p.Met1409Ile)
|
rs786201895
|
|
NM_001042492.3(NF1):c.4227G>C (p.Met1409Ile)
|
rs786201895
|
|
NM_001042492.3(NF1):c.4227G>T (p.Met1409Ile)
|
|
|
NM_001042492.3(NF1):c.4228T>A (p.Phe1410Ile)
|
rs2151461937
|
|
NM_001042492.3(NF1):c.4230C>A (p.Phe1410Leu)
|
|
|
NM_001042492.3(NF1):c.4230C>G (p.Phe1410Leu)
|
rs750213850
|
|
NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr)
|
rs1555618516
|
|
NM_001042492.3(NF1):c.4237T>C (p.Phe1413Leu)
|
rs1190777334
|
|
NM_001042492.3(NF1):c.4239T>G (p.Phe1413Leu)
|
rs1597744644
|
|
NM_001042492.3(NF1):c.4240A>G (p.Ile1414Val)
|
rs2151461966
|
|
NM_001042492.3(NF1):c.4243A>C (p.Asn1415His)
|
rs1555618518
|
|
NM_001042492.3(NF1):c.4246C>G (p.Pro1416Ala)
|
rs2151461990
|
|
NM_001042492.3(NF1):c.4247C>G (p.Pro1416Arg)
|
rs1555618521
|
|
NM_001042492.3(NF1):c.4247C>T (p.Pro1416Leu)
|
rs1555618521
|
|
NM_001042492.3(NF1):c.4247_4248delinsTC (p.Pro1416Leu)
|
rs2151461995
|
|
NM_001042492.3(NF1):c.4249G>T (p.Ala1417Ser)
|
rs587781941
|
|
NM_001042492.3(NF1):c.4252_4253insCAA (p.Ala1417_Ile1418insThr)
|
rs1783538929
|
|
NM_001042492.3(NF1):c.4254T>A (p.Ile1418=)
|
|
|
NM_001042492.3(NF1):c.4255G>A (p.Val1419Ile)
|
rs2067622413
|
|
NM_001042492.3(NF1):c.4256T>C (p.Val1419Ala)
|
|
|
NM_001042492.3(NF1):c.4256T>G (p.Val1419Gly)
|
|
|
NM_001042492.3(NF1):c.4258T>C (p.Ser1420Pro)
|
rs1555618533
|
|
NM_001042492.3(NF1):c.4261C>G (p.Pro1421Ala)
|
rs1347152182
|
|
NM_001042492.3(NF1):c.4261C>T (p.Pro1421Ser)
|
rs1347152182
|
|
NM_001042492.3(NF1):c.4262C>G (p.Pro1421Arg)
|
rs753997885
|
|
NM_001042492.3(NF1):c.4264T>A (p.Tyr1422Asn)
|
|
|
NM_001042492.3(NF1):c.4264T>C (p.Tyr1422His)
|
rs17884349
|
|
NM_001042492.3(NF1):c.4267G>A (p.Glu1423Lys)
|
rs2067622976
|
|
NM_001042492.3(NF1):c.4271C>A (p.Ala1424Glu)
|
rs2067623060
|
|
NM_001042492.3(NF1):c.4274G>A (p.Gly1425Glu)
|
rs1555618547
|
|
NM_001042492.3(NF1):c.4277T>C (p.Ile1426Thr)
|
rs1555618549
|
|
NM_001042492.3(NF1):c.427T>C (p.Phe143Leu)
|
rs2065794956
|
|
NM_001042492.3(NF1):c.4282G>T (p.Asp1428Tyr)
|
rs2151462089
|
|
NM_001042492.3(NF1):c.4284T>A (p.Asp1428Glu)
|
|
|
NM_001042492.3(NF1):c.4288A>C (p.Lys1430Gln)
|
rs2151462099
|
|
NM_001042492.3(NF1):c.4289A>G (p.Lys1430Arg)
|
|
|
NM_001042492.3(NF1):c.4290G>C (p.Lys1430Asn)
|
|
|
NM_001042492.3(NF1):c.4290G>T (p.Lys1430Asn)
|
rs373086572
|
|
NM_001042492.3(NF1):c.4291C>T (p.Pro1431Ser)
|
|
|
NM_001042492.3(NF1):c.4292C>T (p.Pro1431Leu)
|
rs2067623603
|
|
NM_001042492.3(NF1):c.4294C>T (p.Pro1432Ser)
|
rs1597744750
|
|
NM_001042492.3(NF1):c.4298C>A (p.Pro1433His)
|
|
|
NM_001042492.3(NF1):c.4298C>G (p.Pro1433Arg)
|
rs1310048288
|
|
NM_001042492.3(NF1):c.4300A>G (p.Arg1434Gly)
|
rs2067623934
|
|
NM_001042492.3(NF1):c.4301G>T (p.Arg1434Ile)
|
rs1597744780
|
|
NM_001042492.3(NF1):c.4303A>T (p.Ile1435Phe)
|
|
|
NM_001042492.3(NF1):c.4305C>G (p.Ile1435Met)
|
|
|
NM_001042492.3(NF1):c.4307A>T (p.Glu1436Val)
|
|
|
NM_001042492.3(NF1):c.4309A>T (p.Arg1437Trp)
|
rs1555618558
|
|
NM_001042492.3(NF1):c.4310G>A (p.Arg1437Lys)
|
rs1567862061
|
|
NM_001042492.3(NF1):c.4312G>A (p.Gly1438Ser)
|
rs1555618559
|
|
NM_001042492.3(NF1):c.4312G>T (p.Gly1438Cys)
|
rs1555618559
|
|
NM_001042492.3(NF1):c.4313G>A (p.Gly1438Asp)
|
|
|
NM_001042492.3(NF1):c.4313G>C (p.Gly1438Ala)
|
rs748901190
|
|
NM_001042492.3(NF1):c.4313G>T (p.Gly1438Val)
|
rs748901190
|
|
NM_001042492.3(NF1):c.4315T>A (p.Leu1439Met)
|
rs1555618562
|
|
NM_001042492.3(NF1):c.4316T>C (p.Leu1439Ser)
|
rs1567862071
|
|
NM_001042492.3(NF1):c.4316T>G (p.Leu1439Trp)
|
rs1567862071
|
|
NM_001042492.3(NF1):c.4319A>G (p.Lys1440Arg)
|
rs199474788
|
|
NM_001042492.3(NF1):c.431C>T (p.Ser144Phe)
|
rs2065795028
|
|
NM_001042492.3(NF1):c.4321T>A (p.Leu1441Ile)
|
rs786201458
|
|
NM_001042492.3(NF1):c.4322T>C (p.Leu1441Ser)
|
|
|
NM_001042492.3(NF1):c.4328C>T (p.Ser1443Leu)
|
rs1555618566
|
|
NM_001042492.3(NF1):c.4331A>T (p.Lys1444Met)
|
rs199474781
|
|
NM_001042492.3(NF1):c.4333-2dup
|
|
|
NM_001042492.3(NF1):c.4333-3T>C
|
rs1597745535
|
|
NM_001042492.3(NF1):c.4333A>C (p.Ile1445Leu)
|
rs1555618637
|
|
NM_001042492.3(NF1):c.4333A>G (p.Ile1445Val)
|
|
|
NM_001042492.3(NF1):c.4333A>T (p.Ile1445Leu)
|
rs1555618637
|
|
NM_001042492.3(NF1):c.4334T>C (p.Ile1445Thr)
|
|
|
NM_001042492.3(NF1):c.4334T>G (p.Ile1445Arg)
|
rs1597745565
|
|
NM_001042492.3(NF1):c.4336C>T (p.Leu1446Phe)
|
rs1555618639
|
|
NM_001042492.3(NF1):c.433C>G (p.Leu145Val)
|
rs786203460
|
|
NM_001042492.3(NF1):c.433C>T (p.Leu145Phe)
|
rs786203460
|
|
NM_001042492.3(NF1):c.4344T>G (p.Ser1448Arg)
|
rs1555618644
|
|
NM_001042492.3(NF1):c.4349C>A (p.Ala1450Asp)
|
rs2067636212
|
|
NM_001042492.3(NF1):c.4349C>T (p.Ala1450Val)
|
rs2067636212
|
|
NM_001042492.3(NF1):c.4352A>T (p.Asn1451Ile)
|
rs199474754
|
|
NM_001042492.3(NF1):c.4355A>G (p.His1452Arg)
|
rs1567862291
|
|
NM_001042492.3(NF1):c.4357G>C (p.Val1453Leu)
|
rs199474755
|
|
NM_001042492.3(NF1):c.4357G>T (p.Val1453Phe)
|
rs199474755
|
|
NM_001042492.3(NF1):c.4358T>C (p.Val1453Ala)
|
rs1306807858
|
|
NM_001042492.3(NF1):c.4360C>G (p.Leu1454Val)
|
rs1408832954
|
|
NM_001042492.3(NF1):c.4360C>T (p.Leu1454Phe)
|
rs1408832954
|
|
NM_001042492.3(NF1):c.4361T>C (p.Leu1454Pro)
|
rs2067636896
|
|
NM_001042492.3(NF1):c.4369_4371del (p.Lys1457del)
|
rs1555618653
|
|
NM_001042492.3(NF1):c.436A>G (p.Ser146Gly)
|
rs2143673178
|
|
NM_001042492.3(NF1):c.4370A>T (p.Lys1457Ile)
|
|
|
NM_001042492.3(NF1):c.4372G>C (p.Glu1458Gln)
|
|
|
NM_001042492.3(NF1):c.4374A>T (p.Glu1458Asp)
|
|
|
NM_001042492.3(NF1):c.4375G>C (p.Glu1459Gln)
|
rs1597745663
|
|
NM_001042492.3(NF1):c.4378C>A (p.His1460Asn)
|
rs377295676
|
|
NM_001042492.3(NF1):c.4378C>T (p.His1460Tyr)
|
rs377295676
|
|
NM_001042492.3(NF1):c.4379A>G (p.His1460Arg)
|
rs748990989
|
|
NM_001042492.3(NF1):c.4379A>T (p.His1460Leu)
|
rs748990989
|
|
NM_001042492.3(NF1):c.4387C>A (p.Pro1463Thr)
|
rs1597745703
|
|
NM_001042492.3(NF1):c.4387C>T (p.Pro1463Ser)
|
|
|
NM_001042492.3(NF1):c.438C>A (p.Ser146Arg)
|
|
|
NM_001042492.3(NF1):c.4390T>C (p.Phe1464Leu)
|
rs2067638875
|
|
NM_001042492.3(NF1):c.4391T>C (p.Phe1464Ser)
|
|
|
NM_001042492.3(NF1):c.4394A>G (p.Asn1465Ser)
|
rs786202492
|
|
NM_001042492.3(NF1):c.4396G>T (p.Asp1466Tyr)
|
rs878853895
|
|
NM_001042492.3(NF1):c.4398T>G (p.Asp1466Glu)
|
rs2151463134
|
|
NM_001042492.3(NF1):c.439T>C (p.Cys147Arg)
|
rs1555606104
|
|
NM_001042492.3(NF1):c.439_468dup (p.Cys147_Arg156dup)
|
rs2143673214
|
|
NM_001042492.3(NF1):c.4400T>C (p.Phe1467Ser)
|
|
|
NM_001042492.3(NF1):c.4402G>A (p.Val1468Met)
|
rs876660320
|
|
NM_001042492.3(NF1):c.4411_4416del (p.Asn1471_Phe1472del)
|
rs2151463175
|
|
NM_001042492.3(NF1):c.4412A>C (p.Asn1471Thr)
|
rs876658250
|
|
NM_001042492.3(NF1):c.4412A>G (p.Asn1471Ser)
|
rs876658250
|
|
NM_001042492.3(NF1):c.4415T>C (p.Phe1472Ser)
|
|
|
NM_001042492.3(NF1):c.4424C>T (p.Ala1475Val)
|
rs2151463210
|
|
NM_001042492.3(NF1):c.4427G>A (p.Arg1476His)
|
rs1555618691
|
|
NM_001042492.3(NF1):c.4427G>T (p.Arg1476Leu)
|
rs1555618691
|
|
NM_001042492.3(NF1):c.4428C>T (p.Arg1476=)
|
rs2067640114
|
|
NM_001042492.3(NF1):c.4429A>G (p.Arg1477Gly)
|
rs2067640173
|
|
NM_001042492.3(NF1):c.4430+1G>A
|
rs773151680
|
|
NM_001042492.3(NF1):c.4430+20C>G
|
rs2151463278
|
|
NM_001042492.3(NF1):c.4430+4A>C
|
|
|
NM_001042492.3(NF1):c.4430+6T>A
|
rs1567862378
|
|
NM_001042492.3(NF1):c.4430G>A (p.Arg1477Lys)
|
rs1060500293
|
|
NM_001042492.3(NF1):c.4430G>C (p.Arg1477Thr)
|
rs1060500293
|
|
NM_001042492.3(NF1):c.4431-14_4431-13del
|
|
|
NM_001042492.3(NF1):c.4431G>A (p.Arg1477=)
|
rs181462219
|
|
NM_001042492.3(NF1):c.4431G>T (p.Arg1477Ser)
|
rs181462219
|
|
NM_001042492.3(NF1):c.4432T>C (p.Phe1478Leu)
|
|
|
NM_001042492.3(NF1):c.4433T>A (p.Phe1478Tyr)
|
|
|
NM_001042492.3(NF1):c.4433T>G (p.Phe1478Cys)
|
rs1597746900
|
|
NM_001042492.3(NF1):c.4436T>C (p.Phe1479Ser)
|
rs2067662458
|
|
NM_001042492.3(NF1):c.4437C>A (p.Phe1479Leu)
|
rs757953485
|
|
NM_001042492.3(NF1):c.4442A>G (p.Asp1481Gly)
|
rs777229737
|
|
NM_001042492.3(NF1):c.4444A>G (p.Ile1482Val)
|
rs1060500362
|
|
NM_001042492.3(NF1):c.4445T>A (p.Ile1482Lys)
|
|
|
NM_001042492.3(NF1):c.4445T>G (p.Ile1482Arg)
|
rs746994734
|
|
NM_001042492.3(NF1):c.4447G>A (p.Ala1483Thr)
|
rs1555618808
|
|
NM_001042492.3(NF1):c.4447G>T (p.Ala1483Ser)
|
rs1555618808
|
|
NM_001042492.3(NF1):c.4448C>G (p.Ala1483Gly)
|
rs564989006
|
|
NM_001042492.3(NF1):c.4450T>A (p.Ser1484Thr)
|
|
|
NM_001042492.3(NF1):c.4450T>C (p.Ser1484Pro)
|
rs2067662922
|
|
NM_001042492.3(NF1):c.4453G>T (p.Asp1485Tyr)
|
rs2067662991
|
|
NM_001042492.3(NF1):c.4454A>G (p.Asp1485Gly)
|
rs1279391103
|
|
NM_001042492.3(NF1):c.4455T>G (p.Asp1485Glu)
|
|
|
NM_001042492.3(NF1):c.4456T>C (p.Cys1486Arg)
|
|
|
NM_001042492.3(NF1):c.4459C>T (p.Pro1487Ser)
|
rs1265291141
|
|
NM_001042492.3(NF1):c.445A>G (p.Asn149Asp)
|
rs750974024
|
|
NM_001042492.3(NF1):c.4462A>C (p.Thr1488Pro)
|
rs876660162
|
|
NM_001042492.3(NF1):c.4462A>G (p.Thr1488Ala)
|
rs876660162
|
|
NM_001042492.3(NF1):c.4463C>T (p.Thr1488Ile)
|
rs1597746958
|
|
NM_001042492.3(NF1):c.4466G>A (p.Ser1489Asn)
|
rs2067663434
|
|
NM_001042492.3(NF1):c.4469A>G (p.Asp1490Gly)
|
rs2067663471
|
|
NM_001042492.3(NF1):c.446A>C (p.Asn149Thr)
|
rs2143673370
|
|
NM_001042492.3(NF1):c.446A>G (p.Asn149Ser)
|
rs2143673370
|
|
NM_001042492.3(NF1):c.4470T>A (p.Asp1490Glu)
|
rs745678532
|
|
NM_001042492.3(NF1):c.4471G>A (p.Ala1491Thr)
|
rs2067663552
|
|
NM_001042492.3(NF1):c.4472C>T (p.Ala1491Val)
|
rs876658334
|
|
NM_001042492.3(NF1):c.4475T>C (p.Val1492Ala)
|
rs2067663652
|
|
NM_001042492.3(NF1):c.4478A>G (p.Asn1493Ser)
|
rs1597746976
|
|
NM_001042492.3(NF1):c.4481A>G (p.His1494Arg)
|
rs769417700
|
|
NM_001042492.3(NF1):c.4486C>T (p.Leu1496Phe)
|
rs1555618823
|
|
NM_001042492.3(NF1):c.448T>G (p.Phe150Val)
|
|
|
NM_001042492.3(NF1):c.4490C>T (p.Ser1497Phe)
|
rs1597746999
|
|
NM_001042492.3(NF1):c.4495A>C (p.Ile1499Leu)
|
rs764654925
|
|
NM_001042492.3(NF1):c.4498A>G (p.Ser1500Gly)
|
rs1135402862
|
|
NM_001042492.3(NF1):c.44G>A (p.Ser15Asn)
|
rs1598173852
|
|
NM_001042492.3(NF1):c.4501G>A (p.Asp1501Asn)
|
rs2067664389
|
|
NM_001042492.3(NF1):c.4502_4503delinsTT (p.Asp1501Val)
|
|
|
NM_001042492.3(NF1):c.4504_4505delinsAA (p.Gly1502Asn)
|
|
|
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His)
|
rs1555618837
|
|
NM_001042492.3(NF1):c.4507A>G (p.Asn1503Asp)
|
|
|
NM_001042492.3(NF1):c.450C>A (p.Phe150Leu)
|
rs202142624
|
|
NM_001042492.3(NF1):c.4510G>A (p.Val1504Met)
|
rs1555618839
|
|
NM_001042492.3(NF1):c.4516G>C (p.Ala1506Pro)
|
|
|
NM_001042492.3(NF1):c.4516_4517delinsTT (p.Ala1506Phe)
|
rs1567862930
|
|
NM_001042492.3(NF1):c.4518_4544dup (p.Asn1514_Gln1515insHisLeuHisArgLeuLeuTrpAsnAsn)
|
|
|
NM_001042492.3(NF1):c.451A>G (p.Asn151Asp)
|
rs769391944
|
|
NM_001042492.3(NF1):c.4522C>G (p.His1508Asp)
|
rs1393895345
|
|
NM_001042492.3(NF1):c.4523A>G (p.His1508Arg)
|
rs1254695587
|
|
NM_001042492.3(NF1):c.4525C>T (p.Arg1509Cys)
|
rs864622348
|
|
NM_001042492.3(NF1):c.4529T>C (p.Leu1510Pro)
|
rs1597747078
|
|
NM_001042492.3(NF1):c.4529T>G (p.Leu1510Arg)
|
|
|
NM_001042492.3(NF1):c.4530A>G (p.Leu1510=)
|
rs876660089
|
|
NM_001042492.3(NF1):c.4530_4531insATA (p.Leu1510_Leu1511insIle)
|
|
|
NM_001042492.3(NF1):c.4531C>G (p.Leu1511Val)
|
rs2067665189
|
|
NM_001042492.3(NF1):c.4531C>T (p.Leu1511Phe)
|
rs2067665189
|
|
NM_001042492.3(NF1):c.4532_4533delinsAT (p.Leu1511His)
|
|
|
NM_001042492.3(NF1):c.4536G>C (p.Trp1512Cys)
|
rs878853897
|
|
NM_001042492.3(NF1):c.4538A>G (p.Asn1513Ser)
|
rs113205862
|
|
NM_001042492.3(NF1):c.4539C>G (p.Asn1513Lys)
|
rs2067665418
|
|
NM_001042492.3(NF1):c.4540A>C (p.Asn1514His)
|
rs864622404
|
|
NM_001042492.3(NF1):c.4540A>G (p.Asn1514Asp)
|
rs864622404
|
|
NM_001042492.3(NF1):c.4548G>C (p.Glu1516Asp)
|
rs1567863000
|
|
NM_001042492.3(NF1):c.4548G>T (p.Glu1516Asp)
|
rs1567863000
|
|
NM_001042492.3(NF1):c.4549A>G (p.Lys1517Glu)
|
rs2067665710
|
|
NM_001042492.3(NF1):c.454G>A (p.Ala152Thr)
|
rs2065795636
|
|
NM_001042492.3(NF1):c.4555G>A (p.Gly1519Arg)
|
rs1060500380
|
|
NM_001042492.3(NF1):c.4557_4558delinsTA (p.Gln1520Lys)
|
|
|
NM_001042492.3(NF1):c.4560G>C (p.Gln1520His)
|
rs1555618859
|
|
NM_001042492.3(NF1):c.4560G>T (p.Gln1520His)
|
rs1555618859
|
|
NM_001042492.3(NF1):c.4562A>G (p.Tyr1521Cys)
|
rs2067665932
|
|
NM_001042492.3(NF1):c.4565T>C (p.Leu1522Pro)
|
|
|
NM_001042492.3(NF1):c.4567T>C (p.Ser1523Pro)
|
|
|
NM_001042492.3(NF1):c.4568C>A (p.Ser1523Tyr)
|
|
|
NM_001042492.3(NF1):c.4570A>G (p.Ser1524Gly)
|
rs2151464855
|
|
NM_001042492.3(NF1):c.4571_4572delinsAA (p.Ser1524Lys)
|
rs1555618860
|
|
NM_001042492.3(NF1):c.4572C>A (p.Ser1524Arg)
|
rs1597747170
|
|
NM_001042492.3(NF1):c.4573A>G (p.Asn1525Asp)
|
rs1555618861
|
|
NM_001042492.3(NF1):c.4577+2T>C
|
rs1597747184
|
|
NM_001042492.3(NF1):c.4577+2dup
|
rs2067666266
|
|
NM_001042492.3(NF1):c.4577+4A>G
|
rs1555618863
|
|
NM_001042492.3(NF1):c.4577+4del
|
|
|
NM_001042492.3(NF1):c.4577+6A>G
|
rs2067666398
|
|
NM_001042492.3(NF1):c.4578-19A>C
|
|
|
NM_001042492.3(NF1):c.4578-3T>A
|
rs1597748656
|
|
NM_001042492.3(NF1):c.4578-3del
|
rs1597748663
|
|
NM_001042492.3(NF1):c.4578-7T>A
|
rs2067689107
|
|
NM_001042492.3(NF1):c.4578-8G>C
|
rs375758486
|
|
NM_001042492.3(NF1):c.4578-9T>A
|
rs2067688959
|
|
NM_001042492.3(NF1):c.4578G>T (p.Arg1526Ser)
|
rs1356757316
|
|
NM_001042492.3(NF1):c.4579G>A (p.Asp1527Asn)
|
|
|
NM_001042492.3(NF1):c.4579G>T (p.Asp1527Tyr)
|
rs587781542
|
|
NM_001042492.3(NF1):c.4580A>T (p.Asp1527Val)
|
|
|
NM_001042492.3(NF1):c.4585A>G (p.Lys1529Glu)
|
|
|
NM_001042492.3(NF1):c.4588G>A (p.Ala1530Thr)
|
rs2151466206
|
|
NM_001042492.3(NF1):c.458T>A (p.Val153Asp)
|
rs2143673698
|
|
NM_001042492.3(NF1):c.458T>C (p.Val153Ala)
|
rs2143673698
|
|
NM_001042492.3(NF1):c.4591G>A (p.Val1531Ile)
|
|
|
NM_001042492.3(NF1):c.4595G>A (p.Gly1532Glu)
|
|
|
NM_001042492.3(NF1):c.4595G>T (p.Gly1532Val)
|
|
|
NM_001042492.3(NF1):c.4598G>A (p.Arg1533Lys)
|
|
|
NM_001042492.3(NF1):c.4599A>T (p.Arg1533Ser)
|
rs1597748710
|
|
NM_001042492.3(NF1):c.4616T>C (p.Met1539Thr)
|
rs1567863578
|
|
NM_001042492.3(NF1):c.4618G>A (p.Ala1540Thr)
|
rs2151466274
|
|
NM_001042492.3(NF1):c.4621A>G (p.Thr1541Ala)
|
rs2067690191
|
|
NM_001042492.3(NF1):c.4624C>T (p.Leu1542Phe)
|
rs1555619011
|
|
NM_001042492.3(NF1):c.4624CTT[1] (p.Leu1543del)
|
|
|
NM_001042492.3(NF1):c.4628T>C (p.Leu1543Pro)
|
|
|
NM_001042492.3(NF1):c.4631C>A (p.Ala1544Glu)
|
rs1555619015
|
|
NM_001042492.3(NF1):c.4633T>C (p.Tyr1545His)
|
rs1555619019
|
|
NM_001042492.3(NF1):c.4634A>G (p.Tyr1545Cys)
|
rs1597748795
|
|
NM_001042492.3(NF1):c.4637T>C (p.Leu1546Pro)
|
rs876660760
|
|
NM_001042492.3(NF1):c.4637T>G (p.Leu1546Arg)
|
|
|
NM_001042492.3(NF1):c.4639G>A (p.Gly1547Ser)
|
|
|
NM_001042492.3(NF1):c.463A>T (p.Ser155Cys)
|
rs1272106481
|
|
NM_001042492.3(NF1):c.4640G>A (p.Gly1547Asp)
|
rs2151466343
|
|
NM_001042492.3(NF1):c.4642C>T (p.Pro1548Ser)
|
rs876658396
|
|
NM_001042492.3(NF1):c.4645C>G (p.Pro1549Ala)
|
rs1555619025
|
|
NM_001042492.3(NF1):c.4646C>G (p.Pro1549Arg)
|
rs2151466351
|
|
NM_001042492.3(NF1):c.4649A>G (p.Glu1550Gly)
|
rs2067690886
|
|
NM_001042492.3(NF1):c.464G>A (p.Ser155Asn)
|
rs1555606113
|
|
NM_001042492.3(NF1):c.4657C>T (p.Pro1553Ser)
|
rs1033427343
|
|
NM_001042492.3(NF1):c.4658C>T (p.Pro1553Leu)
|
|
|
NM_001042492.3(NF1):c.4660G>A (p.Val1554Met)
|
rs1319687326
|
|
NM_001042492.3(NF1):c.4666G>C (p.Asp1556His)
|
|
|
NM_001042492.3(NF1):c.4667A>T (p.Asp1556Val)
|
|
|
NM_001042492.3(NF1):c.466C>T (p.Arg156Cys)
|
rs755890242
|
|
NM_001042492.3(NF1):c.4670C>A (p.Thr1557Lys)
|
rs876660065
|
|
NM_001042492.3(NF1):c.4670C>G (p.Thr1557Arg)
|
rs876660065
|
|
NM_001042492.3(NF1):c.4672C>T (p.His1558Tyr)
|
rs1468638747
|
|
NM_001042492.3(NF1):c.4673A>G (p.His1558Arg)
|
rs1597748910
|
|
NM_001042492.3(NF1):c.467G>C (p.Arg156Pro)
|
rs754096545
|
|
NM_001042492.3(NF1):c.467G>T (p.Arg156Leu)
|
rs754096545
|
|
NM_001042492.3(NF1):c.4681A>T (p.Ser1561Cys)
|
rs2151466435
|
|
NM_001042492.3(NF1):c.4682G>C (p.Ser1561Thr)
|
rs751414513
|
|
NM_001042492.3(NF1):c.4682G>T (p.Ser1561Ile)
|
|
|
NM_001042492.3(NF1):c.4683C>G (p.Ser1561Arg)
|
rs2067691723
|
|
NM_001042492.3(NF1):c.4684C>T (p.Leu1562Phe)
|
|
|
NM_001042492.3(NF1):c.4685T>A (p.Leu1562His)
|
|
|
NM_001042492.3(NF1):c.4688A>T (p.Asn1563Ile)
|
|
|
NM_001042492.3(NF1):c.4694C>G (p.Thr1565Ser)
|
rs2067691859
|
|
NM_001042492.3(NF1):c.4696A>G (p.Ser1566Gly)
|
|
|
NM_001042492.3(NF1):c.469A>G (p.Ile157Val)
|
rs1555606118
|
|
NM_001042492.3(NF1):c.46C>T (p.Arg16Cys)
|
rs1057520334
|
|
NM_001042492.3(NF1):c.4700C>T (p.Ser1567Leu)
|
rs1555619051
|
|
NM_001042492.3(NF1):c.4706T>C (p.Phe1569Ser)
|
|
|
NM_001042492.3(NF1):c.470T>A (p.Ile157Asn)
|
rs199474744
|
|
NM_001042492.3(NF1):c.4717A>G (p.Met1573Val)
|
|
|
NM_001042492.3(NF1):c.4721C>T (p.Thr1574Ile)
|
rs1567863650
|
|
NM_001042492.3(NF1):c.4724+2_4724+3insTTT
|
rs2151466559
|
|
NM_001042492.3(NF1):c.4724+3A>C
|
|
|
NM_001042492.3(NF1):c.4724+5A>G
|
rs2151466564
|
|
NM_001042492.3(NF1):c.4724+6G>A
|
rs2067692408
|
|
NM_001042492.3(NF1):c.4724+7T>G
|
|
|
NM_001042492.3(NF1):c.4724G>A (p.Arg1575Lys)
|
|
|
NM_001042492.3(NF1):c.4725-3T>C
|
rs892441625
|
|
NM_001042492.3(NF1):c.4725G>A (p.Arg1575=)
|
rs147755637
|
|
NM_001042492.3(NF1):c.4725G>T (p.Arg1575Ser)
|
|
|
NM_001042492.3(NF1):c.4732G>A (p.Val1578Ile)
|
rs1597753156
|
|
NM_001042492.3(NF1):c.4736A>C (p.His1579Pro)
|
rs1275751975
|
|
NM_001042492.3(NF1):c.4740A>T (p.Glu1580Asp)
|
|
|
NM_001042492.3(NF1):c.4749A>T (p.Glu1583Asp)
|
rs144091165
|
|
NM_001042492.3(NF1):c.4754A>G (p.Lys1585Arg)
|
|
|
NM_001042492.3(NF1):c.4756G>A (p.Ala1586Thr)
|
rs767438491
|
|
NM_001042492.3(NF1):c.4756G>T (p.Ala1586Ser)
|
rs767438491
|
|
NM_001042492.3(NF1):c.475A>C (p.Thr159Pro)
|
rs371192107
|
|
NM_001042492.3(NF1):c.4762A>G (p.Lys1588Glu)
|
rs2067765422
|
|
NM_001042492.3(NF1):c.4765A>C (p.Thr1589Pro)
|
|
|
NM_001042492.3(NF1):c.4765A>G (p.Thr1589Ala)
|
rs2067765502
|
|
NM_001042492.3(NF1):c.4768T>G (p.Leu1590Val)
|
rs1567865010
|
|
NM_001042492.3(NF1):c.4770A>C (p.Leu1590Phe)
|
rs1567865021
|
|
NM_001042492.3(NF1):c.4772G>A (p.Ser1591Asn)
|
rs1597753246
|
|
NM_001042492.3(NF1):c.4772G>C (p.Ser1591Thr)
|
rs1597753246
|
|
NM_001042492.3(NF1):c.4774A>G (p.Ile1592Val)
|
|
|
NM_001042492.3(NF1):c.4775T>C (p.Ile1592Thr)
|
rs765799937
|
|
NM_001042492.3(NF1):c.4781A>G (p.Tyr1594Cys)
|
rs1060500303
|
|
NM_001042492.3(NF1):c.4784A>G (p.Gln1595Arg)
|
rs2151470206
|
|
NM_001042492.3(NF1):c.4786G>C (p.Ala1596Pro)
|
rs2151470213
|
|
NM_001042492.3(NF1):c.4787C>A (p.Ala1596Asp)
|
|
|
NM_001042492.3(NF1):c.4787C>G (p.Ala1596Gly)
|
rs1567865042
|
|
NM_001042492.3(NF1):c.478A>T (p.Arg160Trp)
|
|
|
NM_001042492.3(NF1):c.479+3T>G
|
rs876658752
|
|
NM_001042492.3(NF1):c.479+5G>T
|
rs1567818033
|
|
NM_001042492.3(NF1):c.4790G>C (p.Gly1597Ala)
|
|
|
NM_001042492.3(NF1):c.4791G>T (p.Gly1597=)
|
rs1412795566
|
|
NM_001042492.3(NF1):c.4796C>A (p.Ser1599Tyr)
|
rs1555619407
|
|
NM_001042492.3(NF1):c.4796C>T (p.Ser1599Phe)
|
rs1555619407
|
|
NM_001042492.3(NF1):c.47G>C (p.Arg16Pro)
|
rs1555594493
|
|
NM_001042492.3(NF1):c.480-29A>G
|
|
|
NM_001042492.3(NF1):c.480-3del
|
|
|
NM_001042492.3(NF1):c.480-5T>G
|
|
|
NM_001042492.3(NF1):c.480-6T>G
|
|
|
NM_001042492.3(NF1):c.4801G>A (p.Ala1601Thr)
|
rs754651519
|
|
NM_001042492.3(NF1):c.4801G>C (p.Ala1601Pro)
|
|
|
NM_001042492.3(NF1):c.4802C>A (p.Ala1601Asp)
|
rs2151470269
|
|
NM_001042492.3(NF1):c.4804G>A (p.Gly1602Arg)
|
rs878853898
|
|
NM_001042492.3(NF1):c.4805G>A (p.Gly1602Glu)
|
|
|
NM_001042492.3(NF1):c.4808A>G (p.Asn1603Ser)
|
rs2067766672
|
|
NM_001042492.3(NF1):c.4808A>T (p.Asn1603Ile)
|
|
|
NM_001042492.3(NF1):c.480G>T (p.Arg160Ser)
|
rs1555607071
|
|
NM_001042492.3(NF1):c.4811C>G (p.Pro1604Arg)
|
rs2067766742
|
|
NM_001042492.3(NF1):c.4811C>T (p.Pro1604Leu)
|
rs2067766742
|
|
NM_001042492.3(NF1):c.4817T>C (p.Phe1606Ser)
|
|
|
NM_001042492.3(NF1):c.4819TAT[1] (p.Tyr1608del)
|
|
|
NM_001042492.3(NF1):c.4820A>G (p.Tyr1607Cys)
|
|
|
NM_001042492.3(NF1):c.4822T>G (p.Tyr1608Asp)
|
rs2067766985
|
|
NM_001042492.3(NF1):c.4823A>C (p.Tyr1608Ser)
|
rs1555619417
|
|
NM_001042492.3(NF1):c.4823A>G (p.Tyr1608Cys)
|
rs1555619417
|
|
NM_001042492.3(NF1):c.4825G>A (p.Val1609Ile)
|
rs876658973
|
|
NM_001042492.3(NF1):c.4826T>C (p.Val1609Ala)
|
rs876660303
|
|
NM_001042492.3(NF1):c.4828G>A (p.Ala1610Thr)
|
rs2067767184
|
|
NM_001042492.3(NF1):c.4828G>T (p.Ala1610Ser)
|
rs2067767184
|
|
NM_001042492.3(NF1):c.4829C>T (p.Ala1610Val)
|
|
|
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp)
|
rs1060500316
|
|
NM_001042492.3(NF1):c.4832G>A (p.Arg1611Gln)
|
rs876659197
|
|
NM_001042492.3(NF1):c.4834A>C (p.Arg1612=)
|
rs755137259
|
|
NM_001042492.3(NF1):c.4834A>T (p.Arg1612Trp)
|
|
|
NM_001042492.3(NF1):c.4835+3_4835+10delinsT
|
rs2067767641
|
|
NM_001042492.3(NF1):c.4835+4A>C
|
|
|
NM_001042492.3(NF1):c.4835+4A>G
|
|
|
NM_001042492.3(NF1):c.4835G>C (p.Arg1612Thr)
|
rs1555619423
|
|
NM_001042492.3(NF1):c.4836-15T>A
|
rs2151537408
|
|
NM_001042492.3(NF1):c.4836-3T>A
|
|
|
NM_001042492.3(NF1):c.4836G>T (p.Arg1612Ser)
|
rs1555533268
|
|
NM_001042492.3(NF1):c.4838T>G (p.Phe1613Cys)
|
rs2151537477
|
|
NM_001042492.3(NF1):c.4846G>A (p.Gly1616Ser)
|
rs1555533271
|
|
NM_001042492.3(NF1):c.4847G>A (p.Gly1616Asp)
|
rs1597829516
|
|
NM_001042492.3(NF1):c.4849C>G (p.Gln1617Glu)
|
|
|
NM_001042492.3(NF1):c.484C>A (p.Gln162Lys)
|
rs1555607073
|
|
NM_001042492.3(NF1):c.484C>G (p.Gln162Glu)
|
rs1555607073
|
|
NM_001042492.3(NF1):c.4856A>G (p.Asn1619Ser)
|
rs1466167635
|
|
NM_001042492.3(NF1):c.4862A>C (p.Asp1621Ala)
|
rs2151537564
|
|
NM_001042492.3(NF1):c.4865T>G (p.Leu1622Trp)
|
|
|
NM_001042492.3(NF1):c.4866G>T (p.Leu1622Phe)
|
|
|
NM_001042492.3(NF1):c.4868T>G (p.Leu1623Arg)
|
|
|
NM_001042492.3(NF1):c.4871T>C (p.Ile1624Thr)
|
|
|
NM_001042492.3(NF1):c.4872A>G (p.Ile1624Met)
|
|
|
NM_001042492.3(NF1):c.487G>A (p.Glu163Lys)
|
|
|
NM_001042492.3(NF1):c.4880T>G (p.Val1627Gly)
|
rs1567611231
|
|
NM_001042492.3(NF1):c.4881_4883del (p.Leu1629del)
|
|
|
NM_001042492.3(NF1):c.4884A>C (p.Leu1628Phe)
|
rs2151537649
|
|
NM_001042492.3(NF1):c.4886T>C (p.Leu1629Pro)
|
rs1555533288
|
|
NM_001042492.3(NF1):c.4889C>T (p.Thr1630Ile)
|
|
|
NM_001042492.3(NF1):c.488A>G (p.Glu163Gly)
|
|
|
NM_001042492.3(NF1):c.4895A>G (p.Lys1632Arg)
|
rs2069327086
|
|
NM_001042492.3(NF1):c.4897C>A (p.Pro1633Thr)
|
rs1567611255
|
|
NM_001042492.3(NF1):c.4898C>T (p.Pro1633Leu)
|
|
|
NM_001042492.3(NF1):c.4900T>A (p.Tyr1634Asn)
|
|
|
NM_001042492.3(NF1):c.4903T>C (p.Tyr1635His)
|
|
|
NM_001042492.3(NF1):c.4903_4917dup (p.Tyr1635_Tyr1639dup)
|
rs2069327013
|
|
NM_001042492.3(NF1):c.4904A>T (p.Tyr1635Phe)
|
rs786202866
|
|
NM_001042492.3(NF1):c.4916A>G (p.Tyr1639Cys)
|
|
|
NM_001042492.3(NF1):c.4921A>G (p.Ile1641Val)
|
rs2151537768
|
|
NM_001042492.3(NF1):c.4922T>C (p.Ile1641Thr)
|
rs1567611281
|
|
NM_001042492.3(NF1):c.4924G>A (p.Val1642Ile)
|
rs2151537778
|
|
NM_001042492.3(NF1):c.4924G>T (p.Val1642Leu)
|
|
|
NM_001042492.3(NF1):c.4927G>A (p.Val1643Met)
|
rs1060500381
|
|
NM_001042492.3(NF1):c.4927_4929delinsATA (p.Val1643Ile)
|
rs1597829655
|
|
NM_001042492.3(NF1):c.4929G>T (p.Val1643=)
|
rs17880521
|
|
NM_001042492.3(NF1):c.4930G>C (p.Asp1644His)
|
rs1131691123
|
|
NM_001042492.3(NF1):c.4934T>G (p.Leu1645Arg)
|
rs1555533305
|
|
NM_001042492.3(NF1):c.4936A>T (p.Thr1646Ser)
|
|
|
NM_001042492.3(NF1):c.4937C>A (p.Thr1646Asn)
|
|
|
NM_001042492.3(NF1):c.4937C>T (p.Thr1646Ile)
|
rs1597829686
|
|
NM_001042492.3(NF1):c.493A>G (p.Thr165Ala)
|
rs786203186
|
|
NM_001042492.3(NF1):c.4940A>C (p.His1647Pro)
|
rs1555533307
|
|
NM_001042492.3(NF1):c.4942A>C (p.Thr1648Pro)
|
|
|
NM_001042492.3(NF1):c.4942A>T (p.Thr1648Ser)
|
rs770558820
|
|
NM_001042492.3(NF1):c.4945G>T (p.Gly1649Trp)
|
|
|
NM_001042492.3(NF1):c.4949C>T (p.Pro1650Leu)
|
rs1597829723
|
|
NM_001042492.3(NF1):c.4949_4954del (p.Pro1650_Asn1652delinsHis)
|
rs1567611339
|
|
NM_001042492.3(NF1):c.494C>G (p.Thr165Ser)
|
rs876660009
|
|
NM_001042492.3(NF1):c.494C>T (p.Thr165Ile)
|
rs876660009
|
|
NM_001042492.3(NF1):c.4951A>C (p.Ser1651Arg)
|
rs1555533314
|
|
NM_001042492.3(NF1):c.4951A>G (p.Ser1651Gly)
|
rs1555533314
|
|
NM_001042492.3(NF1):c.4951A>T (p.Ser1651Cys)
|
rs1555533314
|
|
NM_001042492.3(NF1):c.4953C>G (p.Ser1651Arg)
|
|
|
NM_001042492.3(NF1):c.4955A>G (p.Asn1652Ser)
|
rs775874538
|
|
NM_001042492.3(NF1):c.4956T>A (p.Asn1652Lys)
|
rs1597829740
|
|
NM_001042492.3(NF1):c.4958G>T (p.Arg1653Leu)
|
rs763413441
|
|
NM_001042492.3(NF1):c.4970A>G (p.Asp1657Gly)
|
|
|
NM_001042492.3(NF1):c.4975C>T (p.Leu1659Phe)
|
|
|
NM_001042492.3(NF1):c.4976T>C (p.Leu1659Pro)
|
rs2151537955
|
|
NM_001042492.3(NF1):c.4978T>C (p.Ser1660Pro)
|
|
|
NM_001042492.3(NF1):c.4979C>G (p.Ser1660Cys)
|
rs2069329686
|
|
NM_001042492.3(NF1):c.4979C>T (p.Ser1660Phe)
|
rs2069329686
|
|
NM_001042492.3(NF1):c.4982A>T (p.Lys1661Met)
|
|
|
NM_001042492.3(NF1):c.4984T>A (p.Trp1662Arg)
|
rs1555533328
|
|
NM_001042492.3(NF1):c.4984T>C (p.Trp1662Arg)
|
rs1555533328
|
|
NM_001042492.3(NF1):c.4985G>C (p.Trp1662Ser)
|
rs1567611375
|
|
NM_001042492.3(NF1):c.4985G>T (p.Trp1662Leu)
|
|
|
NM_001042492.3(NF1):c.4990G>T (p.Val1664Phe)
|
|
|
NM_001042492.3(NF1):c.4998T>A (p.Phe1666Leu)
|
rs2151538054
|
|
NM_001042492.3(NF1):c.499T>G (p.Cys167Gly)
|
rs2065903351
|
|
NM_001042492.3(NF1):c.4G>A (p.Ala2Thr)
|
|
|
NM_001042492.3(NF1):c.4G>T (p.Ala2Ser)
|
rs2143144232
|
|
NM_001042492.3(NF1):c.4_5delinsTT (p.Ala2Phe)
|
rs1555594471
|
|
NM_001042492.3(NF1):c.5000C>T (p.Pro1667Leu)
|
|
|
NM_001042492.3(NF1):c.5001T>A (p.Pro1667=)
|
|
|
NM_001042492.3(NF1):c.500G>C (p.Cys167Ser)
|
rs2143707075
|
|
NM_001042492.3(NF1):c.5014G>A (p.Asp1672Asn)
|
rs1483541195
|
|
NM_001042492.3(NF1):c.5015A>G (p.Asp1672Gly)
|
rs1555533338
|
|
NM_001042492.3(NF1):c.5015A>T (p.Asp1672Val)
|
rs1555533338
|
|
NM_001042492.3(NF1):c.5017_5019del (p.Asn1673del)
|
rs2151538129
|
|
NM_001042492.3(NF1):c.5018A>G (p.Asn1673Ser)
|
rs1201910133
|
|
NM_001042492.3(NF1):c.5020G>A (p.Val1674Ile)
|
rs1555533342
|
|
NM_001042492.3(NF1):c.5024C>T (p.Ser1675Phe)
|
|
|
NM_001042492.3(NF1):c.5026G>T (p.Ala1676Ser)
|
rs756450772
|
|
NM_001042492.3(NF1):c.5030T>A (p.Val1677Asp)
|
rs1060500384
|
|
NM_001042492.3(NF1):c.5030T>C (p.Val1677Ala)
|
rs1060500384
|
|
NM_001042492.3(NF1):c.5030TCTATA[3] (p.Ile1679_Tyr1680dup)
|
rs1135402868
|
|
NM_001042492.3(NF1):c.5030_5031delinsAT (p.Val1677Asp)
|
|
|
NM_001042492.3(NF1):c.5032T>C (p.Tyr1678His)
|
rs786203241
|
|
NM_001042492.3(NF1):c.5033A>G (p.Tyr1678Cys)
|
rs1555533347
|
|
NM_001042492.3(NF1):c.5036T>C (p.Ile1679Thr)
|
rs2151538224
|
|
NM_001042492.3(NF1):c.5037C>G (p.Ile1679Met)
|
rs1555533349
|
|
NM_001042492.3(NF1):c.5038T>G (p.Tyr1680Asp)
|
rs2069331474
|
|
NM_001042492.3(NF1):c.5039A>C (p.Tyr1680Ser)
|
|
|
NM_001042492.3(NF1):c.5039A>G (p.Tyr1680Cys)
|
rs758361270
|
|
NM_001042492.3(NF1):c.503C>T (p.Ser168Leu)
|
|
|
NM_001042492.3(NF1):c.5050T>C (p.Ser1684Pro)
|
|
|
NM_001042492.3(NF1):c.5051C>G (p.Ser1684Cys)
|
rs2151538280
|
|
NM_001042492.3(NF1):c.5055G>T (p.Trp1685Cys)
|
|
|
NM_001042492.3(NF1):c.5059A>G (p.Arg1687Gly)
|
rs746461616
|
|
NM_001042492.3(NF1):c.5060G>A (p.Arg1687Lys)
|
rs2151538312
|
|
NM_001042492.3(NF1):c.5060G>C (p.Arg1687Thr)
|
|
|
NM_001042492.3(NF1):c.5061G>C (p.Arg1687Ser)
|
rs2069332144
|
|
NM_001042492.3(NF1):c.5066A>G (p.Tyr1689Cys)
|
|
|
NM_001042492.3(NF1):c.5068A>C (p.Thr1690Pro)
|
rs2069332520
|
|
NM_001042492.3(NF1):c.5069_5070insTTG (p.Thr1690_Lys1691insCys)
|
|
|
NM_001042492.3(NF1):c.5071A>G (p.Lys1691Glu)
|
|
|
NM_001042492.3(NF1):c.5072A>C (p.Lys1691Thr)
|
rs863224661
|
|
NM_001042492.3(NF1):c.5072A>G (p.Lys1691Arg)
|
rs863224661
|
|
NM_001042492.3(NF1):c.5073G>C (p.Lys1691Asn)
|
rs1597829953
|
|
NM_001042492.3(NF1):c.5077C>A (p.His1693Asn)
|
rs2069332893
|
|
NM_001042492.3(NF1):c.5078A>G (p.His1693Arg)
|
rs2151538392
|
|
NM_001042492.3(NF1):c.507A>C (p.Glu169Asp)
|
|
|
NM_001042492.3(NF1):c.5083C>T (p.Arg1695Trp)
|
rs1567611500
|
|
NM_001042492.3(NF1):c.5084G>A (p.Arg1695Gln)
|
rs1555533367
|
|
NM_001042492.3(NF1):c.508G>T (p.Asp170Tyr)
|
rs2065903486
|
|
NM_001042492.3(NF1):c.5092A>T (p.Thr1698Ser)
|
rs876659017
|
|
NM_001042492.3(NF1):c.5093C>G (p.Thr1698Ser)
|
rs769469854
|
|
NM_001042492.3(NF1):c.5093C>T (p.Thr1698Ile)
|
|
|
NM_001042492.3(NF1):c.5095G>A (p.Gly1699Ser)
|
rs1597830004
|
|
NM_001042492.3(NF1):c.5096G>A (p.Gly1699Asp)
|
rs2069333669
|
|
NM_001042492.3(NF1):c.5096G>C (p.Gly1699Ala)
|
rs2069333669
|
|
NM_001042492.3(NF1):c.50T>G (p.Phe17Cys)
|
rs1911557433
|
|
NM_001042492.3(NF1):c.5102A>C (p.Lys1701Thr)
|
rs1597830021
|
|
NM_001042492.3(NF1):c.5102A>T (p.Lys1701Ile)
|
rs1597830021
|
|
NM_001042492.3(NF1):c.5104G>A (p.Gly1702Ser)
|
|
|
NM_001042492.3(NF1):c.5105G>A (p.Gly1702Asp)
|
rs2069333953
|
|
NM_001042492.3(NF1):c.5107A>G (p.Ser1703Gly)
|
rs1555533374
|
|
NM_001042492.3(NF1):c.5108G>A (p.Ser1703Asn)
|
rs876660159
|
|
NM_001042492.3(NF1):c.5108G>C (p.Ser1703Thr)
|
rs876660159
|
|
NM_001042492.3(NF1):c.510C>G (p.Asp170Glu)
|
|
|
NM_001042492.3(NF1):c.5110A>G (p.Lys1704Glu)
|
|
|
NM_001042492.3(NF1):c.5113A>G (p.Arg1705Gly)
|
|
|
NM_001042492.3(NF1):c.5114G>A (p.Arg1705Lys)
|
rs876660487
|
|
NM_001042492.3(NF1):c.5115G>T (p.Arg1705Ser)
|
|
|
NM_001042492.3(NF1):c.5119G>A (p.Val1707Ile)
|
rs1302949776
|
|
NM_001042492.3(NF1):c.511A>C (p.Asn171His)
|
rs1597643796
|
|
NM_001042492.3(NF1):c.511A>G (p.Asn171Asp)
|
rs1597643796
|
|
NM_001042492.3(NF1):c.5123T>G (p.Phe1708Cys)
|
rs1597830056
|
|
NM_001042492.3(NF1):c.5126T>A (p.Ile1709Lys)
|
rs876660316
|
|
NM_001042492.3(NF1):c.5126T>G (p.Ile1709Arg)
|
rs876660316
|
|
NM_001042492.3(NF1):c.5128G>A (p.Asp1710Asn)
|
rs1428709938
|
|
NM_001042492.3(NF1):c.512A>C (p.Asn171Thr)
|
rs767500770
|
|
NM_001042492.3(NF1):c.5132G>T (p.Cys1711Phe)
|
rs1567611549
|
|
NM_001042492.3(NF1):c.5137G>C (p.Gly1713Arg)
|
rs2151538644
|
|
NM_001042492.3(NF1):c.5140A>G (p.Lys1714Glu)
|
rs1597830089
|
|
NM_001042492.3(NF1):c.5141A>C (p.Lys1714Thr)
|
rs2069334864
|
|
NM_001042492.3(NF1):c.5142A>C (p.Lys1714Asn)
|
rs1555533379
|
|
NM_001042492.3(NF1):c.5142A>G (p.Lys1714=)
|
rs1555533379
|
|
NM_001042492.3(NF1):c.5143C>G (p.Leu1715Val)
|
|
|
NM_001042492.3(NF1):c.5146G>A (p.Ala1716Thr)
|
rs767469374
|
|
NM_001042492.3(NF1):c.514G>A (p.Val172Ile)
|
rs1555607083
|
|
NM_001042492.3(NF1):c.5152C>G (p.His1718Asp)
|
|
|
NM_001042492.3(NF1):c.5152C>T (p.His1718Tyr)
|
rs1555533381
|
|
NM_001042492.3(NF1):c.5155A>C (p.Ile1719Leu)
|
|
|
NM_001042492.3(NF1):c.5155A>G (p.Ile1719Val)
|
rs1434439252
|
|
NM_001042492.3(NF1):c.5158G>A (p.Glu1720Lys)
|
|
|
NM_001042492.3(NF1):c.5158G>C (p.Glu1720Gln)
|
|
|
NM_001042492.3(NF1):c.5160G>C (p.Glu1720Asp)
|
rs773378630
|
|
NM_001042492.3(NF1):c.5163T>G (p.His1721Gln)
|
rs267604792
|
|
NM_001042492.3(NF1):c.5164G>A (p.Glu1722Lys)
|
|
|
NM_001042492.3(NF1):c.5166A>T (p.Glu1722Asp)
|
rs1597830174
|
|
NM_001042492.3(NF1):c.5169A>T (p.Gln1723His)
|
rs864622372
|
|
NM_001042492.3(NF1):c.5170C>G (p.Gln1724Glu)
|
rs1567611587
|
|
NM_001042492.3(NF1):c.5177T>G (p.Leu1726Arg)
|
rs2151538809
|
|
NM_001042492.3(NF1):c.5180C>G (p.Pro1727Arg)
|
rs2069336255
|
|
NM_001042492.3(NF1):c.5185G>C (p.Ala1729Pro)
|
|
|
NM_001042492.3(NF1):c.5188A>G (p.Thr1730Ala)
|
|
|
NM_001042492.3(NF1):c.5189C>G (p.Thr1730Ser)
|
rs772831692
|
|
NM_001042492.3(NF1):c.5189C>T (p.Thr1730Ile)
|
rs772831692
|
|
NM_001042492.3(NF1):c.518A>T (p.Asp173Val)
|
rs1597643820
|
|
NM_001042492.3(NF1):c.5191T>G (p.Leu1731Val)
|
rs876658602
|
|
NM_001042492.3(NF1):c.5194G>A (p.Ala1732Thr)
|
rs2069336671
|
|
NM_001042492.3(NF1):c.5195C>G (p.Ala1732Gly)
|
rs202037436
|
|
NM_001042492.3(NF1):c.519_520insCAA (p.Asp173_Val174insGln)
|
rs2143707301
|
|
NM_001042492.3(NF1):c.51C>G (p.Phe17Leu)
|
rs1369290988
|
|
NM_001042492.3(NF1):c.520G>A (p.Val174Ile)
|
rs1555607084
|
|
NM_001042492.3(NF1):c.520G>T (p.Val174Phe)
|
rs1555607084
|
|
NM_001042492.3(NF1):c.5210T>A (p.Leu1737Gln)
|
|
|
NM_001042492.3(NF1):c.5212A>G (p.Lys1738Glu)
|
rs2069337096
|
|
NM_001042492.3(NF1):c.5215G>A (p.Val1739Ile)
|
|
|
NM_001042492.3(NF1):c.5215G>C (p.Val1739Leu)
|
rs876659956
|
|
NM_001042492.3(NF1):c.5217A>T (p.Val1739=)
|
|
|
NM_001042492.3(NF1):c.5221C>A (p.His1741Asn)
|
rs780529277
|
|
NM_001042492.3(NF1):c.5221C>G (p.His1741Asp)
|
|
|
NM_001042492.3(NF1):c.5224A>G (p.Asn1742Asp)
|
rs2069337415
|
|
NM_001042492.3(NF1):c.5226_5234del (p.Asn1742_Leu1744del)
|
|
|
NM_001042492.3(NF1):c.5227G>C (p.Ala1743Pro)
|
rs878853900
|
|
NM_001042492.3(NF1):c.5227G>T (p.Ala1743Ser)
|
|
|
NM_001042492.3(NF1):c.5230C>T (p.Leu1744Phe)
|
rs1555533407
|
|
NM_001042492.3(NF1):c.5233A>C (p.Lys1745Gln)
|
rs2151538985
|
|
NM_001042492.3(NF1):c.5236C>A (p.Leu1746Ile)
|
|
|
NM_001042492.3(NF1):c.5244C>G (p.His1748Gln)
|
|
|
NM_001042492.3(NF1):c.5245A>G (p.Lys1749Glu)
|
rs2069338050
|
|
NM_001042492.3(NF1):c.524A>G (p.His175Arg)
|
|
|
NM_001042492.3(NF1):c.5252C>A (p.Thr1751Asn)
|
|
|
NM_001042492.3(NF1):c.5252C>T (p.Thr1751Ile)
|
|
|
NM_001042492.3(NF1):c.5254A>G (p.Lys1752Glu)
|
rs2069338262
|
|
NM_001042492.3(NF1):c.5260T>C (p.Ser1754Pro)
|
|
|
NM_001042492.3(NF1):c.5260T>G (p.Ser1754Ala)
|
|
|
NM_001042492.3(NF1):c.5264T>G (p.Ile1755Ser)
|
|
|
NM_001042492.3(NF1):c.5267A>C (p.Lys1756Thr)
|
|
|
NM_001042492.3(NF1):c.5268+2dup
|
|
|
NM_001042492.3(NF1):c.5268+3A>C
|
|
|
NM_001042492.3(NF1):c.5268+4A>G
|
rs1555533418
|
|
NM_001042492.3(NF1):c.5268+5del
|
|
|
NM_001042492.3(NF1):c.5269-11C>G
|
|
|
NM_001042492.3(NF1):c.5269-19C>A
|
rs755620051
|
|
NM_001042492.3(NF1):c.5269-3C>G
|
|
|
NM_001042492.3(NF1):c.5269G>T (p.Val1757Phe)
|
|
|
NM_001042492.3(NF1):c.5270T>A (p.Val1757Asp)
|
rs1021835871
|
|
NM_001042492.3(NF1):c.5271T>A (p.Val1757=)
|
rs1399095966
|
|
NM_001042492.3(NF1):c.5273G>A (p.Gly1758Asp)
|
rs1358882546
|
|
NM_001042492.3(NF1):c.5273G>C (p.Gly1758Ala)
|
rs1358882546
|
|
NM_001042492.3(NF1):c.5275T>C (p.Ser1759Pro)
|
rs2069375050
|
|
NM_001042492.3(NF1):c.5275T>G (p.Ser1759Ala)
|
rs2069375050
|
|
NM_001042492.3(NF1):c.5278A>G (p.Thr1760Ala)
|
|
|
NM_001042492.3(NF1):c.527A>G (p.Asp176Gly)
|
rs1567820732
|
|
NM_001042492.3(NF1):c.5281G>A (p.Ala1761Thr)
|
rs2069375243
|
|
NM_001042492.3(NF1):c.5281G>C (p.Ala1761Pro)
|
rs2069375243
|
|
NM_001042492.3(NF1):c.5282C>G (p.Ala1761Gly)
|
rs2069375331
|
|
NM_001042492.3(NF1):c.5283_5300del (p.Val1762_Ala1767del)
|
|
|
NM_001042492.3(NF1):c.5284G>A (p.Val1762Ile)
|
rs1060500290
|
|
NM_001042492.3(NF1):c.5285T>A (p.Val1762Asp)
|
rs1555533550
|
|
NM_001042492.3(NF1):c.5285T>C (p.Val1762Ala)
|
rs1555533550
|
|
NM_001042492.3(NF1):c.5287C>G (p.Gln1763Glu)
|
|
|
NM_001042492.3(NF1):c.5290G>T (p.Val1764Leu)
|
rs778427434
|
|
NM_001042492.3(NF1):c.5294C>T (p.Thr1765Ile)
|
rs2151540847
|
|
NM_001042492.3(NF1):c.5299G>A (p.Ala1767Thr)
|
rs529905904
|
|
NM_001042492.3(NF1):c.5299G>T (p.Ala1767Ser)
|
rs529905904
|
|
NM_001042492.3(NF1):c.5304G>C (p.Glu1768Asp)
|
rs2069376025
|
|
NM_001042492.3(NF1):c.5305C>G (p.Arg1769Gly)
|
|
|
NM_001042492.3(NF1):c.5306G>A (p.Arg1769Gln)
|
rs1555533559
|
|
NM_001042492.3(NF1):c.5306G>C (p.Arg1769Pro)
|
|
|
NM_001042492.3(NF1):c.5310A>C (p.Thr1770=)
|
rs2069376282
|
|
NM_001042492.3(NF1):c.5314G>A (p.Val1772Ile)
|
|
|
NM_001042492.3(NF1):c.5317C>G (p.Leu1773Val)
|
|
|
NM_001042492.3(NF1):c.5318T>C (p.Leu1773Pro)
|
rs1597831917
|
|
NM_001042492.3(NF1):c.5324A>T (p.Gln1775Leu)
|
|
|
NM_001042492.3(NF1):c.5328_5329delinsTA (p.Val1777Ile)
|
rs2069377113
|
|
NM_001042492.3(NF1):c.5329G>A (p.Val1777Ile)
|
rs876658562
|
|
NM_001042492.3(NF1):c.5329G>T (p.Val1777Phe)
|
rs876658562
|
|
NM_001042492.3(NF1):c.5332T>C (p.Phe1778Leu)
|
|
|
NM_001042492.3(NF1):c.5336T>G (p.Leu1779Arg)
|
rs2151541015
|
|
NM_001042492.3(NF1):c.5339A>G (p.Asn1780Ser)
|
rs1411525800
|
|
NM_001042492.3(NF1):c.5348A>G (p.Tyr1783Cys)
|
rs1597831963
|
|
NM_001042492.3(NF1):c.5350T>A (p.Tyr1784Asn)
|
|
|
NM_001042492.3(NF1):c.5350T>G (p.Tyr1784Asp)
|
rs2151541060
|
|
NM_001042492.3(NF1):c.5351A>C (p.Tyr1784Ser)
|
rs1060500280
|
|
NM_001042492.3(NF1):c.5351A>G (p.Tyr1784Cys)
|
rs1060500280
|
|
NM_001042492.3(NF1):c.5353G>T (p.Ala1785Ser)
|
rs199474782
|
|
NM_001042492.3(NF1):c.5360A>C (p.Glu1787Ala)
|
rs1555533570
|
|
NM_001042492.3(NF1):c.5361A>C (p.Glu1787Asp)
|
rs2151541092
|
|
NM_001042492.3(NF1):c.5362A>G (p.Ile1788Val)
|
rs2069378035
|
|
NM_001042492.3(NF1):c.5363T>C (p.Ile1788Thr)
|
rs2069378120
|
|
NM_001042492.3(NF1):c.5365G>A (p.Glu1789Lys)
|
|
|
NM_001042492.3(NF1):c.5365G>C (p.Glu1789Gln)
|
rs1555533571
|
|
NM_001042492.3(NF1):c.5371A>G (p.Ile1791Val)
|
|
|
NM_001042492.3(NF1):c.5371A>T (p.Ile1791Phe)
|
rs2151541120
|
|
NM_001042492.3(NF1):c.5373C>G (p.Ile1791Met)
|
rs1597831996
|
|
NM_001042492.3(NF1):c.5375G>C (p.Cys1792Ser)
|
|
|
NM_001042492.3(NF1):c.5375G>T (p.Cys1792Phe)
|
rs1263046457
|
|
NM_001042492.3(NF1):c.5377C>A (p.Leu1793Ile)
|
rs761676110
|
|
NM_001042492.3(NF1):c.5378T>C (p.Leu1793Pro)
|
|
|
NM_001042492.3(NF1):c.5380G>A (p.Val1794Ile)
|
rs1555533574
|
|
NM_001042492.3(NF1):c.5381T>G (p.Val1794Gly)
|
|
|
NM_001042492.3(NF1):c.5384A>G (p.Asp1795Gly)
|
rs1567612446
|
|
NM_001042492.3(NF1):c.5384_5410del (p.Asp1795_Ile1803del)
|
rs2069378982
|
|
NM_001042492.3(NF1):c.5385T>A (p.Asp1795Glu)
|
rs1135402870
|
|
NM_001042492.3(NF1):c.5389A>G (p.Asn1797Asp)
|
|
|
NM_001042492.3(NF1):c.5391_5393dup (p.Asn1797_Gln1798insHis)
|
|
|
NM_001042492.3(NF1):c.5407A>C (p.Ile1803Leu)
|
|
|
NM_001042492.3(NF1):c.5409T>G (p.Ile1803Met)
|
rs2069379800
|
|
NM_001042492.3(NF1):c.540A>C (p.Leu180Phe)
|
rs1597643865
|
|
NM_001042492.3(NF1):c.5410G>A (p.Ala1804Thr)
|
rs2151541269
|
|
NM_001042492.3(NF1):c.5411C>G (p.Ala1804Gly)
|
|
|
NM_001042492.3(NF1):c.5413A>G (p.Asn1805Asp)
|
rs1287561681
|
|
NM_001042492.3(NF1):c.5419G>A (p.Gly1807Ser)
|
rs1443729188
|
|
NM_001042492.3(NF1):c.5421C>T (p.Gly1807=)
|
rs1060500279
|
|
NM_001042492.3(NF1):c.5422A>G (p.Thr1808Ala)
|
|
|
NM_001042492.3(NF1):c.5428C>T (p.Leu1810Phe)
|
|
|
NM_001042492.3(NF1):c.5429T>C (p.Leu1810Pro)
|
|
|
NM_001042492.3(NF1):c.542A>G (p.Gln181Arg)
|
rs2065904138
|
|
NM_001042492.3(NF1):c.5432C>T (p.Thr1811Ile)
|
rs2151541340
|
|
NM_001042492.3(NF1):c.5434T>C (p.Phe1812Leu)
|
rs2069380487
|
|
NM_001042492.3(NF1):c.5439G>T (p.Met1813Ile)
|
|
|
NM_001042492.3(NF1):c.5440C>T (p.His1814Tyr)
|
rs1036523228
|
|
NM_001042492.3(NF1):c.5442C>G (p.His1814Gln)
|
rs991848606
|
|
NM_001042492.3(NF1):c.5443C>G (p.Gln1815Glu)
|
rs1555533587
|
|
NM_001042492.3(NF1):c.5447A>G (p.Glu1816Gly)
|
|
|
NM_001042492.3(NF1):c.5450G>A (p.Cys1817Tyr)
|
rs1555533589
|
|
NM_001042492.3(NF1):c.5456C>T (p.Ala1819Val)
|
rs1555533590
|
|
NM_001042492.3(NF1):c.5458A>G (p.Ile1820Val)
|
rs786202459
|
|
NM_001042492.3(NF1):c.5459T>C (p.Ile1820Thr)
|
rs1597832129
|
|
NM_001042492.3(NF1):c.545A>G (p.Tyr182Cys)
|
rs2143707725
|
|
NM_001042492.3(NF1):c.545A>T (p.Tyr182Phe)
|
|
|
NM_001042492.3(NF1):c.5461G>C (p.Val1821Leu)
|
rs1597832135
|
|
NM_001042492.3(NF1):c.5462T>C (p.Val1821Ala)
|
rs2151541436
|
|
NM_001042492.3(NF1):c.5462T>G (p.Val1821Gly)
|
|
|
NM_001042492.3(NF1):c.5465A>C (p.Gln1822Pro)
|
rs1060500328
|
|
NM_001042492.3(NF1):c.5467T>C (p.Ser1823Pro)
|
rs1555533592
|
|
NM_001042492.3(NF1):c.5468C>A (p.Ser1823Tyr)
|
|
|
NM_001042492.3(NF1):c.5471T>G (p.Ile1824Ser)
|
|
|
NM_001042492.3(NF1):c.5473A>G (p.Ile1825Val)
|
rs2069381682
|
|
NM_001042492.3(NF1):c.5476C>T (p.His1826Tyr)
|
|
|
NM_001042492.3(NF1):c.5477A>G (p.His1826Arg)
|
rs878853902
|
|
NM_001042492.3(NF1):c.5479A>G (p.Ile1827Val)
|
rs1299780528
|
|
NM_001042492.3(NF1):c.5480T>C (p.Ile1827Thr)
|
rs1555533605
|
|
NM_001042492.3(NF1):c.5480T>G (p.Ile1827Ser)
|
|
|
NM_001042492.3(NF1):c.5481C>G (p.Ile1827Met)
|
rs1555533607
|
|
NM_001042492.3(NF1):c.5482C>G (p.Arg1828Gly)
|
rs1555533609
|
|
NM_001042492.3(NF1):c.5482C>T (p.Arg1828Trp)
|
rs1555533609
|
|
NM_001042492.3(NF1):c.5483G>A (p.Arg1828Gln)
|
rs876660298
|
|
NM_001042492.3(NF1):c.5483G>C (p.Arg1828Pro)
|
|
|
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His)
|
rs771529172
|
|
NM_001042492.3(NF1):c.548T>A (p.Ile183Asn)
|
rs2143707759
|
|
NM_001042492.3(NF1):c.5491T>C (p.Trp1831Arg)
|
rs2069382435
|
|
NM_001042492.3(NF1):c.5491T>G (p.Trp1831Gly)
|
rs2069382435
|
|
NM_001042492.3(NF1):c.5493G>C (p.Trp1831Cys)
|
|
|
NM_001042492.3(NF1):c.5494G>A (p.Glu1832Lys)
|
rs2069382639
|
|
NM_001042492.3(NF1):c.5494G>C (p.Glu1832Gln)
|
|
|
NM_001042492.3(NF1):c.549C>G (p.Ile183Met)
|
rs1597643884
|
|
NM_001042492.3(NF1):c.5503C>A (p.Gln1835Lys)
|
|
|
NM_001042492.3(NF1):c.5505G>T (p.Gln1835His)
|
rs1555533615
|
|
NM_001042492.3(NF1):c.5509G>C (p.Asp1837His)
|
rs771597781
|
|
NM_001042492.3(NF1):c.5512T>C (p.Ser1838Pro)
|
rs1555533619
|
|
NM_001042492.3(NF1):c.5515A>C (p.Ile1839Leu)
|
|
|
NM_001042492.3(NF1):c.5518C>A (p.Pro1840Thr)
|
|
|
NM_001042492.3(NF1):c.5519C>G (p.Pro1840Arg)
|
|
|
NM_001042492.3(NF1):c.5522A>G (p.Gln1841Arg)
|
|
|
NM_001042492.3(NF1):c.5523A>T (p.Gln1841His)
|
rs151046636
|
|
NM_001042492.3(NF1):c.5524C>A (p.His1842Asn)
|
|
|
NM_001042492.3(NF1):c.5528C>A (p.Thr1843Asn)
|
|
|
NM_001042492.3(NF1):c.5528C>T (p.Thr1843Ile)
|
rs1567612632
|
|
NM_001042492.3(NF1):c.5530A>G (p.Lys1844Glu)
|
|
|
NM_001042492.3(NF1):c.5531A>G (p.Lys1844Arg)
|
rs2069383981
|
|
NM_001042492.3(NF1):c.5532G>T (p.Lys1844Asn)
|
rs2151541680
|
|
NM_001042492.3(NF1):c.5536C>G (p.Arg1846Gly)
|
rs769843989
|
|
NM_001042492.3(NF1):c.5537G>A (p.Arg1846Gln)
|
rs2069384348
|
|
NM_001042492.3(NF1):c.5537G>T (p.Arg1846Leu)
|
|
|
NM_001042492.3(NF1):c.5539C>A (p.Pro1847Thr)
|
rs2069384394
|
|
NM_001042492.3(NF1):c.5539C>G (p.Pro1847Ala)
|
rs2069384394
|
|
NM_001042492.3(NF1):c.5539C>T (p.Pro1847Ser)
|
rs2069384394
|
|
NM_001042492.3(NF1):c.553G>A (p.Val185Met)
|
|
|
NM_001042492.3(NF1):c.553G>T (p.Val185Leu)
|
|
|
NM_001042492.3(NF1):c.5545G>C (p.Asp1849His)
|
|
|
NM_001042492.3(NF1):c.5546A>T (p.Asp1849Val)
|
rs1170679293
|
|
NM_001042492.3(NF1):c.5548G>A (p.Val1850Ile)
|
rs1597832397
|
|
NM_001042492.3(NF1):c.5548G>T (p.Val1850Phe)
|
rs1597832397
|
|
NM_001042492.3(NF1):c.5549T>A (p.Val1850Asp)
|
rs1555533637
|
|
NM_001042492.3(NF1):c.5549T>G (p.Val1850Gly)
|
rs1555533637
|
|
NM_001042492.3(NF1):c.5554G>A (p.Gly1852Arg)
|
rs1436590774
|
|
NM_001042492.3(NF1):c.5558C>G (p.Thr1853Arg)
|
rs2069385223
|
|
NM_001042492.3(NF1):c.5561T>A (p.Leu1854Gln)
|
rs878853903
|
|
NM_001042492.3(NF1):c.5563C>T (p.Leu1855Phe)
|
rs2069385474
|
|
NM_001042492.3(NF1):c.5564T>A (p.Leu1855His)
|
rs2069385520
|
|
NM_001042492.3(NF1):c.5564T>C (p.Leu1855Pro)
|
rs2069385520
|
|
NM_001042492.3(NF1):c.5566A>G (p.Asn1856Asp)
|
|
|
NM_001042492.3(NF1):c.5569A>G (p.Ile1857Val)
|
|
|
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr)
|
rs1567820765
|
|
NM_001042492.3(NF1):c.5571C>G (p.Ile1857Met)
|
rs771837192
|
|
NM_001042492.3(NF1):c.5572G>A (p.Ala1858Thr)
|
rs786203416
|
|
NM_001042492.3(NF1):c.5572G>T (p.Ala1858Ser)
|
rs786203416
|
|
NM_001042492.3(NF1):c.5578C>A (p.Leu1860Ile)
|
rs746689492
|
|
NM_001042492.3(NF1):c.5582A>T (p.Asn1861Ile)
|
rs1555533647
|
|
NM_001042492.3(NF1):c.5587G>A (p.Gly1863Ser)
|
rs1060500332
|
|
NM_001042492.3(NF1):c.5588G>A (p.Gly1863Asp)
|
rs1597832460
|
|
NM_001042492.3(NF1):c.5590A>T (p.Ser1864Cys)
|
rs2151541898
|
|
NM_001042492.3(NF1):c.5591G>A (p.Ser1864Asn)
|
rs1567612716
|
|
NM_001042492.3(NF1):c.5591G>T (p.Ser1864Ile)
|
|
|
NM_001042492.3(NF1):c.5594C>G (p.Ser1865Cys)
|
|
|
NM_001042492.3(NF1):c.559T>A (p.Cys187Ser)
|
|
|
NM_001042492.3(NF1):c.55G>A (p.Glu19Lys)
|
rs786203307
|
|
NM_001042492.3(NF1):c.5600C>T (p.Pro1867Leu)
|
|
|
NM_001042492.3(NF1):c.5605T>A (p.Leu1869Ile)
|
|
|
NM_001042492.3(NF1):c.5608C>A (p.Arg1870=)
|
rs1049849034
|
|
NM_001042492.3(NF1):c.5608C>G (p.Arg1870Gly)
|
|
|
NM_001042492.3(NF1):c.5608C>T (p.Arg1870Trp)
|
|
|
NM_001042492.3(NF1):c.5609+3A>G
|
rs2151541987
|
|
NM_001042492.3(NF1):c.5609+3A>T
|
rs2151541987
|
|
NM_001042492.3(NF1):c.5609+4G>A
|
|
|
NM_001042492.3(NF1):c.5609+4G>C
|
rs2069386889
|
|
NM_001042492.3(NF1):c.5609+5G>T
|
rs1597832498
|
|
NM_001042492.3(NF1):c.5609G>C (p.Arg1870Pro)
|
|
|
NM_001042492.3(NF1):c.5610-13T>G
|
|
|
NM_001042492.3(NF1):c.5610-15T>G
|
|
|
NM_001042492.3(NF1):c.5610-17T>G
|
|
|
NM_001042492.3(NF1):c.5610-3T>C
|
rs2069447812
|
|
NM_001042492.3(NF1):c.5615C>T (p.Ala1872Val)
|
|
|
NM_001042492.3(NF1):c.5619C>G (p.Ala1873=)
|
rs786203335
|
|
NM_001042492.3(NF1):c.5625T>A (p.Asn1875Lys)
|
rs1275173622
|
|
NM_001042492.3(NF1):c.5625TCT[1] (p.Leu1877del)
|
rs1131691081
|
|
NM_001042492.3(NF1):c.5627T>C (p.Leu1876Pro)
|
|
|
NM_001042492.3(NF1):c.562G>A (p.Ala188Thr)
|
rs778975931
|
|
NM_001042492.3(NF1):c.5630T>G (p.Leu1877Arg)
|
rs2069448419
|
|
NM_001042492.3(NF1):c.5636C>T (p.Ala1879Val)
|
rs1555533845
|
|
NM_001042492.3(NF1):c.5639T>C (p.Leu1880Ser)
|
rs1567613595
|
|
NM_001042492.3(NF1):c.563C>A (p.Ala188Glu)
|
rs1060500309
|
|
NM_001042492.3(NF1):c.5641A>C (p.Thr1881Pro)
|
|
|
NM_001042492.3(NF1):c.5642C>A (p.Thr1881Asn)
|
rs876658349
|
|
NM_001042492.3(NF1):c.5642C>T (p.Thr1881Ile)
|
rs876658349
|
|
NM_001042492.3(NF1):c.5645G>A (p.Cys1882Tyr)
|
rs1597834656
|
|
NM_001042492.3(NF1):c.5646T>G (p.Cys1882Trp)
|
rs1597834659
|
|
NM_001042492.3(NF1):c.5651T>G (p.Phe1884Cys)
|
|
|
NM_001042492.3(NF1):c.5654A>G (p.Asn1885Ser)
|
|
|
NM_001042492.3(NF1):c.5654A>T (p.Asn1885Ile)
|
|
|
NM_001042492.3(NF1):c.5661A>G (p.Lys1887=)
|
rs149759456
|
|
NM_001042492.3(NF1):c.5662A>T (p.Ile1888Phe)
|
rs863224662
|
|
NM_001042492.3(NF1):c.5669G>A (p.Gly1890Asp)
|
|
|
NM_001042492.3(NF1):c.5671C>G (p.Gln1891Glu)
|
|
|
NM_001042492.3(NF1):c.5672A>C (p.Gln1891Pro)
|
|
|
NM_001042492.3(NF1):c.5673G>T (p.Gln1891His)
|
rs1555533857
|
|
NM_001042492.3(NF1):c.5676A>C (p.Leu1892Phe)
|
rs876658130
|
|
NM_001042492.3(NF1):c.5676A>T (p.Leu1892Phe)
|
|
|
NM_001042492.3(NF1):c.5677C>G (p.Leu1893Val)
|
|
|
NM_001042492.3(NF1):c.5682_5683delinsCT (p.Glu1894_Thr1895delinsAspSer)
|
rs2151544601
|
|
NM_001042492.3(NF1):c.5689G>A (p.Gly1897Ser)
|
rs368201829
|
|
NM_001042492.3(NF1):c.5690G>T (p.Gly1897Val)
|
rs1597834751
|
|
NM_001042492.3(NF1):c.5694A>G (p.Leu1898=)
|
rs1555533863
|
|
NM_001042492.3(NF1):c.5699T>C (p.Ile1900Thr)
|
|
|
NM_001042492.3(NF1):c.56A>C (p.Glu19Ala)
|
rs1911558602
|
|
NM_001042492.3(NF1):c.56AGC[3] (p.Gln20dup)
|
rs1911558884
|
|
NM_001042492.3(NF1):c.5702C>T (p.Pro1901Leu)
|
rs2069451171
|
|
NM_001042492.3(NF1):c.5705C>G (p.Ala1902Gly)
|
|
|
NM_001042492.3(NF1):c.5705C>T (p.Ala1902Val)
|
rs1465309384
|
|
NM_001042492.3(NF1):c.570A>T (p.Leu190Phe)
|
rs2143708067
|
|
NM_001042492.3(NF1):c.5711A>C (p.Asn1904Thr)
|
rs864622647
|
|
NM_001042492.3(NF1):c.5711A>G (p.Asn1904Ser)
|
rs864622647
|
|
NM_001042492.3(NF1):c.5719T>C (p.Phe1907Leu)
|
rs876660040
|
|
NM_001042492.3(NF1):c.5720T>A (p.Phe1907Tyr)
|
rs1567613677
|
|
NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys)
|
rs751904277
|
|
NM_001042492.3(NF1):c.5729C>T (p.Ser1910Phe)
|
rs751904277
|
|
NM_001042492.3(NF1):c.572A>C (p.Lys191Thr)
|
rs1555607113
|
|
NM_001042492.3(NF1):c.5731A>T (p.Ile1911Phe)
|
|
|
NM_001042492.3(NF1):c.5732T>A (p.Ile1911Asn)
|
rs1597834839
|
|
NM_001042492.3(NF1):c.5732T>C (p.Ile1911Thr)
|
rs1597834839
|
|
NM_001042492.3(NF1):c.5733_5734delinsAC (p.Ser1912Arg)
|
rs2069452266
|
|
NM_001042492.3(NF1):c.5734_5735insATA (p.Ile1911_Ser1912insAsn)
|
|
|
NM_001042492.3(NF1):c.5735G>A (p.Ser1912Asn)
|
|
|
NM_001042492.3(NF1):c.5736T>G (p.Ser1912Arg)
|
|
|
NM_001042492.3(NF1):c.5738_5740dup (p.Lys1913_Thr1914insLys)
|
|
|
NM_001042492.3(NF1):c.5740A>C (p.Thr1914Pro)
|
rs2069452483
|
|
NM_001042492.3(NF1):c.5741C>A (p.Thr1914Lys)
|
rs1555533873
|
|
NM_001042492.3(NF1):c.5742A>G (p.Thr1914=)
|
|
|
NM_001042492.3(NF1):c.5746G>C (p.Ala1916Pro)
|
rs62070718
|
|
NM_001042492.3(NF1):c.5746G>T (p.Ala1916Ser)
|
rs62070718
|
|
NM_001042492.3(NF1):c.5750C>A (p.Ala1917Asp)
|
rs2069452996
|
|
NM_001042492.3(NF1):c.5750C>G (p.Ala1917Gly)
|
rs2069452996
|
|
NM_001042492.3(NF1):c.5752A>C (p.Asn1918His)
|
rs750915711
|
|
NM_001042492.3(NF1):c.5755G>A (p.Glu1919Lys)
|
rs1227869359
|
|
NM_001042492.3(NF1):c.5762A>G (p.His1921Arg)
|
rs2151544881
|
|
NM_001042492.3(NF1):c.5768C>A (p.Thr1923Lys)
|
rs786203824
|
|
NM_001042492.3(NF1):c.5768C>G (p.Thr1923Arg)
|
rs786203824
|
|
NM_001042492.3(NF1):c.5773G>C (p.Glu1925Gln)
|
|
|
NM_001042492.3(NF1):c.5775A>T (p.Glu1925Asp)
|
rs2151544922
|
|
NM_001042492.3(NF1):c.5780T>G (p.Leu1927Trp)
|
rs2151544934
|
|
NM_001042492.3(NF1):c.5783A>G (p.Glu1928Gly)
|
rs2069453957
|
|
NM_001042492.3(NF1):c.5785G>A (p.Glu1929Lys)
|
rs2069454068
|
|
NM_001042492.3(NF1):c.5786A>C (p.Glu1929Ala)
|
|
|
NM_001042492.3(NF1):c.5787G>C (p.Glu1929Asp)
|
rs786202591
|
|
NM_001042492.3(NF1):c.5787G>T (p.Glu1929Asp)
|
rs786202591
|
|
NM_001042492.3(NF1):c.5788T>A (p.Cys1930Ser)
|
rs2069454402
|
|
NM_001042492.3(NF1):c.5789G>A (p.Cys1930Tyr)
|
rs755138009
|
|
NM_001042492.3(NF1):c.5797G>A (p.Gly1933Arg)
|
|
|
NM_001042492.3(NF1):c.5800T>A (p.Phe1934Ile)
|
|
|
NM_001042492.3(NF1):c.5800T>C (p.Phe1934Leu)
|
rs2151544983
|
|
NM_001042492.3(NF1):c.5801T>G (p.Phe1934Cys)
|
rs2151544987
|
|
NM_001042492.3(NF1):c.5807A>G (p.Lys1936Arg)
|
rs2069454728
|
|
NM_001042492.3(NF1):c.5812+3A>C
|
rs1597834976
|
|
NM_001042492.3(NF1):c.5812+3_5812+4del
|
rs1555533888
|
|
NM_001042492.3(NF1):c.5812+5G>T
|
|
|
NM_001042492.3(NF1):c.5812+5_5812+8del
|
|
|
NM_001042492.3(NF1):c.5812+6T>G
|
rs1555533893
|
|
NM_001042492.3(NF1):c.5812A>G (p.Ser1938Gly)
|
rs1555533885
|
|
NM_001042492.3(NF1):c.5813-3C>T
|
rs2151550224
|
|
NM_001042492.3(NF1):c.5813-5T>C
|
rs2151550215
|
|
NM_001042492.3(NF1):c.5813G>A (p.Ser1938Asn)
|
rs906075234
|
|
NM_001042492.3(NF1):c.5814_5815insTTTTT (p.Ile1939fs)
|
rs1481408918
|
|
NM_001042492.3(NF1):c.5815A>G (p.Ile1939Val)
|
rs1173859882
|
|
NM_001042492.3(NF1):c.5815A>T (p.Ile1939Phe)
|
rs1173859882
|
|
NM_001042492.3(NF1):c.5816T>C (p.Ile1939Thr)
|
rs1304057833
|
|
NM_001042492.3(NF1):c.5825A>G (p.Lys1942Arg)
|
rs2069601534
|
|
NM_001042492.3(NF1):c.5831T>C (p.Leu1944Pro)
|
rs2069601725
|
|
NM_001042492.3(NF1):c.5836T>A (p.Leu1946Met)
|
rs1422333640
|
|
NM_001042492.3(NF1):c.5836T>G (p.Leu1946Val)
|
|
|
NM_001042492.3(NF1):c.5842T>C (p.Tyr1948His)
|
rs1057520575
|
|
NM_001042492.3(NF1):c.5845A>T (p.Met1949Leu)
|
rs1597840049
|
|
NM_001042492.3(NF1):c.584A>C (p.Lys195Thr)
|
|
|
NM_001042492.3(NF1):c.5851C>G (p.Pro1951Ala)
|
rs1555534391
|
|
NM_001042492.3(NF1):c.5858T>G (p.Leu1953Arg)
|
rs199474792
|
|
NM_001042492.3(NF1):c.586+3A>G
|
rs2065905008
|
|
NM_001042492.3(NF1):c.586+3A>T
|
|
|
NM_001042492.3(NF1):c.586+4A>G
|
rs1597644028
|
|
NM_001042492.3(NF1):c.586+4dup
|
rs2143708312
|
|
NM_001042492.3(NF1):c.586+5G>C
|
rs1060500284
|
|
NM_001042492.3(NF1):c.586+5del
|
rs1567820838
|
|
NM_001042492.3(NF1):c.586+664A>G
|
|
|
NM_001042492.3(NF1):c.5861C>T (p.Ser1954Leu)
|
rs2069602711
|
|
NM_001042492.3(NF1):c.5863A>T (p.Asn1955Tyr)
|
rs1567615782
|
|
NM_001042492.3(NF1):c.5864A>G (p.Asn1955Ser)
|
|
|
NM_001042492.3(NF1):c.5866C>A (p.Leu1956Ile)
|
rs747678243
|
|
NM_001042492.3(NF1):c.5866C>G (p.Leu1956Val)
|
|
|
NM_001042492.3(NF1):c.5867T>G (p.Leu1956Arg)
|
rs1597840087
|
|
NM_001042492.3(NF1):c.586G>A (p.Glu196Lys)
|
rs876659079
|
|
NM_001042492.3(NF1):c.587-14T>A
|
rs940581106
|
|
NM_001042492.3(NF1):c.5870T>C (p.Val1957Ala)
|
rs2069602993
|
|
NM_001042492.3(NF1):c.5873G>A (p.Arg1958His)
|
|
|
NM_001042492.3(NF1):c.5882A>G (p.Lys1961Arg)
|
rs2069603347
|
|
NM_001042492.3(NF1):c.5885A>C (p.His1962Pro)
|
rs1555534402
|
|
NM_001042492.3(NF1):c.5885A>G (p.His1962Arg)
|
rs1555534402
|
|
NM_001042492.3(NF1):c.5890G>A (p.Asp1964Asn)
|
|
|
NM_001042492.3(NF1):c.5893G>A (p.Asp1965Asn)
|
|
|
NM_001042492.3(NF1):c.5894A>T (p.Asp1965Val)
|
rs2151550455
|
|
NM_001042492.3(NF1):c.5896_5897delinsAT (p.Ala1966Ile)
|
rs2151550467
|
|
NM_001042492.3(NF1):c.5897C>T (p.Ala1966Val)
|
|
|
NM_001042492.3(NF1):c.589A>G (p.Thr197Ala)
|
rs1171626658
|
|
NM_001042492.3(NF1):c.58C>G (p.Gln20Glu)
|
rs1567786905
|
|
NM_001042492.3(NF1):c.5900A>G (p.Lys1967Arg)
|
rs1567615807
|
|
NM_001042492.3(NF1):c.5903G>A (p.Arg1968Gln)
|
|
|
NM_001042492.3(NF1):c.5906A>G (p.Gln1969Arg)
|
|
|
NM_001042492.3(NF1):c.590C>G (p.Thr197Arg)
|
rs1597658021
|
|
NM_001042492.3(NF1):c.590C>T (p.Thr197Ile)
|
|
|
NM_001042492.3(NF1):c.5911G>A (p.Val1971Ile)
|
rs2069605938
|
|
NM_001042492.3(NF1):c.5918C>G (p.Ala1973Gly)
|
rs1597840153
|
|
NM_001042492.3(NF1):c.5918C>T (p.Ala1973Val)
|
rs1597840153
|
|
NM_001042492.3(NF1):c.5920A>G (p.Ile1974Val)
|
rs1597840159
|
|
NM_001042492.3(NF1):c.5924T>C (p.Leu1975Pro)
|
rs1555534411
|
|
NM_001042492.3(NF1):c.5928C>A (p.Asp1976Glu)
|
rs568852704
|
|
NM_001042492.3(NF1):c.5928C>G (p.Asp1976Glu)
|
rs568852704
|
|
NM_001042492.3(NF1):c.592G>A (p.Ala198Thr)
|
rs1555608643
|
|
NM_001042492.3(NF1):c.5933T>G (p.Leu1978Arg)
|
rs2069606635
|
|
NM_001042492.3(NF1):c.5935A>G (p.Ile1979Val)
|
rs775480099
|
|
NM_001042492.3(NF1):c.5935A>T (p.Ile1979Leu)
|
rs775480099
|
|
NM_001042492.3(NF1):c.5936T>G (p.Ile1979Arg)
|
|
|
NM_001042492.3(NF1):c.5937A>G (p.Ile1979Met)
|
rs1555534418
|
|
NM_001042492.3(NF1):c.5939C>T (p.Thr1980Ile)
|
rs1060500336
|
|
NM_001042492.3(NF1):c.593C>A (p.Ala198Glu)
|
rs863224663
|
|
NM_001042492.3(NF1):c.593C>T (p.Ala198Val)
|
rs863224663
|
|
NM_001042492.3(NF1):c.5943G>T (p.Met1981Ile)
|
|
|
NM_001042492.3(NF1):c.5945C>A (p.Thr1982Asn)
|
rs1336219677
|
|
NM_001042492.3(NF1):c.5945C>G (p.Thr1982Ser)
|
|
|
NM_001042492.3(NF1):c.5954A>T (p.Glu1985Val)
|
|
|
NM_001042492.3(NF1):c.5957A>G (p.Lys1986Arg)
|
rs2069607779
|
|
NM_001042492.3(NF1):c.5959C>G (p.Gln1987Glu)
|
rs876659070
|
|
NM_001042492.3(NF1):c.5960A>G (p.Gln1987Arg)
|
rs2151550646
|
|
NM_001042492.3(NF1):c.5974A>G (p.Ile1992Val)
|
|
|
NM_001042492.3(NF1):c.5974A>T (p.Ile1992Phe)
|
rs1597840279
|
|
NM_001042492.3(NF1):c.5977C>G (p.Gln1993Glu)
|
|
|
NM_001042492.3(NF1):c.5984A>G (p.Lys1995Arg)
|
rs1567615913
|
|
NM_001042492.3(NF1):c.5988A>G (p.Ile1996Met)
|
|
|
NM_001042492.3(NF1):c.5989T>C (p.Trp1997Arg)
|
rs1597840306
|
|
NM_001042492.3(NF1):c.5992G>A (p.Gly1998Arg)
|
rs1555534426
|
|
NM_001042492.3(NF1):c.5995A>T (p.Ser1999Cys)
|
rs753703741
|
|
NM_001042492.3(NF1):c.5997C>A (p.Ser1999Arg)
|
rs2069608865
|
|
NM_001042492.3(NF1):c.5997C>G (p.Ser1999Arg)
|
|
|
NM_001042492.3(NF1):c.5998C>T (p.Leu2000Phe)
|
rs1555534429
|
|
NM_001042492.3(NF1):c.5999T>C (p.Leu2000Pro)
|
rs2069608977
|
|
NM_001042492.3(NF1):c.599A>C (p.Lys200Thr)
|
|
|
NM_001042492.3(NF1):c.599A>T (p.Lys200Ile)
|
rs1597658055
|
|
NM_001042492.3(NF1):c.59A>C (p.Gln20Pro)
|
rs1598173901
|
|
NM_001042492.3(NF1):c.59A>G (p.Gln20Arg)
|
rs1598173901
|
|
NM_001042492.3(NF1):c.5C>A (p.Ala2Asp)
|
|
|
NM_001042492.3(NF1):c.60+3A>G
|
|
|
NM_001042492.3(NF1):c.60+3A>T
|
rs1598173910
|
|
NM_001042492.3(NF1):c.60+4A>G
|
rs1911560774
|
|
NM_001042492.3(NF1):c.60+5C>T
|
rs879413062
|
|
NM_001042492.3(NF1):c.60+6C>T
|
rs779260264
|
|
NM_001042492.3(NF1):c.6001G>C (p.Gly2001Arg)
|
rs199474751
|
|
NM_001042492.3(NF1):c.6002G>A (p.Gly2001Glu)
|
rs878853905
|
|
NM_001042492.3(NF1):c.6002G>T (p.Gly2001Val)
|
rs878853905
|
|
NM_001042492.3(NF1):c.6005A>C (p.Gln2002Pro)
|
|
|
NM_001042492.3(NF1):c.6006+5T>C
|
|
|
NM_001042492.3(NF1):c.6006+5_6006+25del
|
rs1555534435
|
|
NM_001042492.3(NF1):c.6006+6G>T
|
|
|
NM_001042492.3(NF1):c.6006G>C (p.Gln2002His)
|
rs1555534432
|
|
NM_001042492.3(NF1):c.600A>C (p.Lys200Asn)
|
|
|
NM_001042492.3(NF1):c.6010A>G (p.Thr2004Ala)
|
|
|
NM_001042492.3(NF1):c.6010A>T (p.Thr2004Ser)
|
rs2069668251
|
|
NM_001042492.3(NF1):c.6013G>C (p.Asp2005His)
|
rs876658702
|
|
NM_001042492.3(NF1):c.6014A>T (p.Asp2005Val)
|
rs2151553171
|
|
NM_001042492.3(NF1):c.6015T>G (p.Asp2005Glu)
|
rs2151553173
|
|
NM_001042492.3(NF1):c.6018_6020del (p.Leu2007del)
|
rs2151553179
|
|
NM_001042492.3(NF1):c.6019C>G (p.Leu2007Val)
|
|
|
NM_001042492.3(NF1):c.6020T>C (p.Leu2007Pro)
|
|
|
NM_001042492.3(NF1):c.6020T>G (p.Leu2007Arg)
|
rs2069668597
|
|
NM_001042492.3(NF1):c.6023A>T (p.Asp2008Val)
|
rs2069668717
|
|
NM_001042492.3(NF1):c.6024TGT[1] (p.Val2010del)
|
rs2069668833
|
|
NM_001042492.3(NF1):c.6025G>T (p.Val2009Phe)
|
|
|
NM_001042492.3(NF1):c.6028G>A (p.Val2010Ile)
|
|
|
NM_001042492.3(NF1):c.602T>G (p.Phe201Cys)
|
rs2066131098
|
|
NM_001042492.3(NF1):c.6031C>G (p.Leu2011Val)
|
rs1567616649
|
|
NM_001042492.3(NF1):c.6032T>C (p.Leu2011Pro)
|
rs878853906
|
|
NM_001042492.3(NF1):c.6034G>C (p.Asp2012His)
|
rs199474783
|
|
NM_001042492.3(NF1):c.6037A>G (p.Ser2013Gly)
|
rs876658710
|
|
NM_001042492.3(NF1):c.6038G>A (p.Ser2013Asn)
|
rs1567616663
|
|
NM_001042492.3(NF1):c.6041T>G (p.Phe2014Cys)
|
rs1000572454
|
|
NM_001042492.3(NF1):c.6044T>C (p.Ile2015Thr)
|
rs2069669370
|
|
NM_001042492.3(NF1):c.6047A>C (p.Lys2016Thr)
|
|
|
NM_001042492.3(NF1):c.604A>G (p.Lys202Glu)
|
rs2143774078
|
|
NM_001042492.3(NF1):c.6050C>T (p.Thr2017Ile)
|
|
|
NM_001042492.3(NF1):c.6053G>A (p.Ser2018Asn)
|
rs2069669492
|
|
NM_001042492.3(NF1):c.6055G>C (p.Ala2019Pro)
|
rs2069669625
|
|
NM_001042492.3(NF1):c.6056C>T (p.Ala2019Val)
|
rs1567616673
|
|
NM_001042492.3(NF1):c.6058A>G (p.Thr2020Ala)
|
rs1597842258
|
|
NM_001042492.3(NF1):c.6061G>A (p.Gly2021Ser)
|
|
|
NM_001042492.3(NF1):c.6061G>T (p.Gly2021Cys)
|
|
|
NM_001042492.3(NF1):c.6062G>A (p.Gly2021Asp)
|
rs1555534605
|
|
NM_001042492.3(NF1):c.6062G>C (p.Gly2021Ala)
|
|
|
NM_001042492.3(NF1):c.6062G>T (p.Gly2021Val)
|
|
|
NM_001042492.3(NF1):c.6069G>C (p.Leu2023Phe)
|
rs1555534607
|
|
NM_001042492.3(NF1):c.6076A>G (p.Ile2026Val)
|
rs1376868609
|
|
NM_001042492.3(NF1):c.607G>A (p.Ala203Thr)
|
rs904361724
|
|
NM_001042492.3(NF1):c.6082G>C (p.Ala2028Pro)
|
rs767869530
|
|
NM_001042492.3(NF1):c.608C>G (p.Ala203Gly)
|
|
|
NM_001042492.3(NF1):c.6091A>T (p.Met2031Leu)
|
|
|
NM_001042492.3(NF1):c.6092T>A (p.Met2031Lys)
|
rs753624907
|
|
NM_001042492.3(NF1):c.6092T>G (p.Met2031Arg)
|
|
|
NM_001042492.3(NF1):c.60G>T (p.Gln20His)
|
|
|
NM_001042492.3(NF1):c.61-3del
|
|
|
NM_001042492.3(NF1):c.61-7486G>C
|
|
|
NM_001042492.3(NF1):c.6101C>T (p.Thr2034Ile)
|
rs1567616695
|
|
NM_001042492.3(NF1):c.6103G>C (p.Ala2035Pro)
|
|
|
NM_001042492.3(NF1):c.6104C>A (p.Ala2035Asp)
|
rs2151553465
|
|
NM_001042492.3(NF1):c.6109G>A (p.Ala2037Thr)
|
rs1555534612
|
|
NM_001042492.3(NF1):c.610C>G (p.Leu204Val)
|
rs1460076498
|
|
NM_001042492.3(NF1):c.6116C>T (p.Ala2039Val)
|
rs1555534614
|
|
NM_001042492.3(NF1):c.6118T>C (p.Ser2040Pro)
|
rs1567616704
|
|
NM_001042492.3(NF1):c.6119C>T (p.Ser2040Phe)
|
rs2069671270
|
|
NM_001042492.3(NF1):c.6122G>A (p.Gly2041Glu)
|
rs2151553528
|
|
NM_001042492.3(NF1):c.6124A>G (p.Asn2042Asp)
|
rs2151553540
|
|
NM_001042492.3(NF1):c.6127G>A (p.Val2043Met)
|
|
|
NM_001042492.3(NF1):c.6137T>C (p.Val2046Ala)
|
|
|
NM_001042492.3(NF1):c.6137T>G (p.Val2046Gly)
|
|
|
NM_001042492.3(NF1):c.6141A>C (p.Ser2047=)
|
rs2069671830
|
|
NM_001042492.3(NF1):c.6143G>A (p.Ser2048Asn)
|
rs2151553604
|
|
NM_001042492.3(NF1):c.6146A>T (p.Lys2049Met)
|
|
|
NM_001042492.3(NF1):c.6147+3A>G
|
rs1014307120
|
|
NM_001042492.3(NF1):c.6147+5T>A
|
rs1597842332
|
|
NM_001042492.3(NF1):c.6147+5T>C
|
rs1597842332
|
|
NM_001042492.3(NF1):c.6147G>A (p.Lys2049=)
|
|
|
NM_001042492.3(NF1):c.6147G>C (p.Lys2049Asn)
|
rs1135402882
|
|
NM_001042492.3(NF1):c.614A>G (p.Lys205Arg)
|
rs1555608659
|
|
NM_001042492.3(NF1):c.6151A>G (p.Ile2051Val)
|
|
|
NM_001042492.3(NF1):c.6154G>A (p.Gly2052Arg)
|
rs2069681516
|
|
NM_001042492.3(NF1):c.6157A>G (p.Arg2053Gly)
|
|
|
NM_001042492.3(NF1):c.6158G>A (p.Arg2053Lys)
|
rs1060500289
|
|
NM_001042492.3(NF1):c.6158G>C (p.Arg2053Thr)
|
rs1060500289
|
|
NM_001042492.3(NF1):c.615G>A (p.Lys205=)
|
rs1135402794
|
|
NM_001042492.3(NF1):c.6160A>G (p.Met2054Val)
|
rs1037341012
|
|
NM_001042492.3(NF1):c.6160A>T (p.Met2054Leu)
|
rs1037341012
|
|
NM_001042492.3(NF1):c.6161T>C (p.Met2054Thr)
|
rs1555534665
|
|
NM_001042492.3(NF1):c.6162G>A (p.Met2054Ile)
|
rs876660651
|
|
NM_001042492.3(NF1):c.6164G>C (p.Cys2055Ser)
|
rs1597842735
|
|
NM_001042492.3(NF1):c.6169A>G (p.Ile2057Val)
|
|
|
NM_001042492.3(NF1):c.616A>G (p.Lys206Glu)
|
rs1060500269
|
|
NM_001042492.3(NF1):c.6175G>A (p.Asp2059Asn)
|
rs761029453
|
|
NM_001042492.3(NF1):c.6179A>G (p.Lys2060Arg)
|
rs1597842757
|
|
NM_001042492.3(NF1):c.6185G>C (p.Cys2062Ser)
|
rs1555534668
|
|
NM_001042492.3(NF1):c.618G>C (p.Lys206Asn)
|
rs1567825917
|
|
NM_001042492.3(NF1):c.6190T>C (p.Ser2064Pro)
|
|
|
NM_001042492.3(NF1):c.6191C>T (p.Ser2064Phe)
|
rs2069682819
|
|
NM_001042492.3(NF1):c.6196A>G (p.Thr2066Ala)
|
rs1567616928
|
|
NM_001042492.3(NF1):c.6196A>T (p.Thr2066Ser)
|
|
|
NM_001042492.3(NF1):c.61C>G (p.Leu21Val)
|
rs779453629
|
|
NM_001042492.3(NF1):c.6200C>A (p.Pro2067His)
|
rs2151554428
|
|
NM_001042492.3(NF1):c.6203C>G (p.Thr2068Ser)
|
rs876659172
|
|
NM_001042492.3(NF1):c.6212A>G (p.Gln2071Arg)
|
rs1597842800
|
|
NM_001042492.3(NF1):c.6214C>T (p.His2072Tyr)
|
|
|
NM_001042492.3(NF1):c.6217C>T (p.Leu2073Phe)
|
rs1026776734
|
|
NM_001042492.3(NF1):c.6220A>T (p.Met2074Leu)
|
|
|
NM_001042492.3(NF1):c.6227A>G (p.Asp2076Gly)
|
rs1597842820
|
|
NM_001042492.3(NF1):c.6229G>T (p.Asp2077Tyr)
|
rs1597842830
|
|
NM_001042492.3(NF1):c.6230A>G (p.Asp2077Gly)
|
rs1555534684
|
|
NM_001042492.3(NF1):c.6230A>T (p.Asp2077Val)
|
rs1555534684
|
|
NM_001042492.3(NF1):c.6238A>G (p.Ile2080Val)
|
rs2069684102
|
|
NM_001042492.3(NF1):c.6247C>T (p.Arg2083Cys)
|
|
|
NM_001042492.3(NF1):c.6249C>G (p.Arg2083=)
|
rs1567616975
|
|
NM_001042492.3(NF1):c.624_632del (p.Gln209_Ala211del)
|
rs1555608666
|
|
NM_001042492.3(NF1):c.6251A>G (p.Tyr2084Cys)
|
|
|
NM_001042492.3(NF1):c.6268T>C (p.Phe2090Leu)
|
rs2069685496
|
|
NM_001042492.3(NF1):c.6268_6279del (p.Phe2090_Ser2093del)
|
rs2151554649
|
|
NM_001042492.3(NF1):c.6272A>G (p.Asn2091Ser)
|
rs1555534696
|
|
NM_001042492.3(NF1):c.6276T>G (p.Asn2092Lys)
|
rs2069685829
|
|
NM_001042492.3(NF1):c.6278C>G (p.Ser2093Cys)
|
rs1555534698
|
|
NM_001042492.3(NF1):c.6280C>T (p.Leu2094Phe)
|
rs2069686019
|
|
NM_001042492.3(NF1):c.6283G>A (p.Asp2095Asn)
|
rs1254820959
|
|
NM_001042492.3(NF1):c.6283G>T (p.Asp2095Tyr)
|
|
|
NM_001042492.3(NF1):c.6289G>T (p.Ala2097Ser)
|
|
|
NM_001042492.3(NF1):c.6292G>A (p.Ala2098Thr)
|
rs894460960
|
|
NM_001042492.3(NF1):c.6292G>C (p.Ala2098Pro)
|
rs894460960
|
|
NM_001042492.3(NF1):c.6293C>T (p.Ala2098Val)
|
rs764106639
|
|
NM_001042492.3(NF1):c.6295C>T (p.His2099Tyr)
|
rs1060500382
|
|
NM_001042492.3(NF1):c.6296A>T (p.His2099Leu)
|
|
|
NM_001042492.3(NF1):c.6298C>A (p.Leu2100Ile)
|
rs2069686615
|
|
NM_001042492.3(NF1):c.6298C>G (p.Leu2100Val)
|
|
|
NM_001042492.3(NF1):c.6299T>A (p.Leu2100His)
|
|
|
NM_001042492.3(NF1):c.6299T>C (p.Leu2100Pro)
|
rs1555534708
|
|
NM_001042492.3(NF1):c.6299T>G (p.Leu2100Arg)
|
rs1555534708
|
|
NM_001042492.3(NF1):c.6299_6304del (p.Leu2100_Tyr2102delinsHis)
|
|
|
NM_001042492.3(NF1):c.62T>A (p.Leu21His)
|
rs1567814403
|
|
NM_001042492.3(NF1):c.62T>C (p.Leu21Pro)
|
rs1567814403
|
|
NM_001042492.3(NF1):c.6302C>T (p.Pro2101Leu)
|
rs756746198
|
|
NM_001042492.3(NF1):c.6305A>G (p.Tyr2102Cys)
|
|
|
NM_001042492.3(NF1):c.6307C>A (p.Leu2103Ile)
|
|
|
NM_001042492.3(NF1):c.6307C>T (p.Leu2103Phe)
|
rs1555534719
|
|
NM_001042492.3(NF1):c.6308T>A (p.Leu2103His)
|
rs2069687450
|
|
NM_001042492.3(NF1):c.6310T>C (p.Phe2104Leu)
|
rs876660000
|
|
NM_001042492.3(NF1):c.6312C>G (p.Phe2104Leu)
|
rs780728198
|
|
NM_001042492.3(NF1):c.6316G>C (p.Val2106Leu)
|
rs755791578
|
|
NM_001042492.3(NF1):c.6319G>A (p.Val2107Ile)
|
rs2151554822
|
|
NM_001042492.3(NF1):c.6323C>T (p.Thr2108Ile)
|
rs876658920
|
|
NM_001042492.3(NF1):c.6327C>G (p.Phe2109Leu)
|
rs2069688250
|
|
NM_001042492.3(NF1):c.632C>T (p.Ala211Val)
|
rs1555608675
|
|
NM_001042492.3(NF1):c.6338C>A (p.Thr2113Lys)
|
rs768982249
|
|
NM_001042492.3(NF1):c.6338C>T (p.Thr2113Ile)
|
rs768982249
|
|
NM_001042492.3(NF1):c.6340G>T (p.Gly2114Cys)
|
rs1567617070
|
|
NM_001042492.3(NF1):c.6344C>T (p.Pro2115Leu)
|
rs867091831
|
|
NM_001042492.3(NF1):c.634G>A (p.Val212Ile)
|
rs2143774495
|
|
NM_001042492.3(NF1):c.6364A>G (p.Thr2122Ala)
|
rs139387354
|
|
NM_001042492.3(NF1):c.6365C>T (p.Thr2122Ile)
|
rs878853907
|
|
NM_001042492.3(NF1):c.6368A>G (p.His2123Arg)
|
rs112546213
|
|
NM_001042492.3(NF1):c.6368A>T (p.His2123Leu)
|
rs112546213
|
|
NM_001042492.3(NF1):c.6373C>G (p.Leu2125Val)
|
rs786204236
|
|
NM_001042492.3(NF1):c.6374T>C (p.Leu2125Pro)
|
rs1597843129
|
|
NM_001042492.3(NF1):c.6376G>A (p.Val2126Ile)
|
rs1567617114
|
|
NM_001042492.3(NF1):c.6377T>G (p.Val2126Gly)
|
rs1597843145
|
|
NM_001042492.3(NF1):c.637A>G (p.Ile213Val)
|
rs2066132329
|
|
NM_001042492.3(NF1):c.6382A>T (p.Asn2128Tyr)
|
rs2151555041
|
|
NM_001042492.3(NF1):c.6385A>G (p.Ile2129Val)
|
rs2151555054
|
|
NM_001042492.3(NF1):c.6386T>C (p.Ile2129Thr)
|
rs1287981187
|
|
NM_001042492.3(NF1):c.6388A>C (p.Ile2130Leu)
|
rs2069690351
|
|
NM_001042492.3(NF1):c.6394T>C (p.Ser2132Pro)
|
rs2151555087
|
|
NM_001042492.3(NF1):c.6398T>A (p.Leu2133Gln)
|
|
|
NM_001042492.3(NF1):c.6398T>C (p.Leu2133Pro)
|
rs2069690617
|
|
NM_001042492.3(NF1):c.6400T>G (p.Cys2134Gly)
|
|
|
NM_001042492.3(NF1):c.6403A>C (p.Thr2135Pro)
|
rs1555534767
|
|
NM_001042492.3(NF1):c.6403A>G (p.Thr2135Ala)
|
|
|
NM_001042492.3(NF1):c.6404C>T (p.Thr2135Ile)
|
rs1555534770
|
|
NM_001042492.3(NF1):c.640A>C (p.Asn214His)
|
rs2143774553
|
|
NM_001042492.3(NF1):c.6415C>T (p.Leu2139Phe)
|
|
|
NM_001042492.3(NF1):c.6416T>C (p.Leu2139Pro)
|
|
|
NM_001042492.3(NF1):c.641A>G (p.Asn214Ser)
|
rs746291745
|
|
NM_001042492.3(NF1):c.6421T>G (p.Phe2141Val)
|
rs2069691314
|
|
NM_001042492.3(NF1):c.6424A>C (p.Ser2142Arg)
|
rs1135402886
|
|
NM_001042492.3(NF1):c.6425G>A (p.Ser2142Asn)
|
rs876658896
|
|
NM_001042492.3(NF1):c.6426T>C (p.Ser2142=)
|
rs1060500251
|
|
NM_001042492.3(NF1):c.6427+3A>G
|
|
|
NM_001042492.3(NF1):c.6427+5G>A
|
rs1060500311
|
|
NM_001042492.3(NF1):c.6427+5G>C
|
rs1060500311
|
|
NM_001042492.3(NF1):c.6427+5G>T
|
|
|
NM_001042492.3(NF1):c.6430G>A (p.Glu2144Lys)
|
|
|
NM_001042492.3(NF1):c.6430G>C (p.Glu2144Gln)
|
|
|
NM_001042492.3(NF1):c.6431A>G (p.Glu2144Gly)
|
rs2069703452
|
|
NM_001042492.3(NF1):c.6432G>T (p.Glu2144Asp)
|
|
|
NM_001042492.3(NF1):c.6434C>T (p.Thr2145Ile)
|
rs1597843658
|
|
NM_001042492.3(NF1):c.6437A>G (p.Lys2146Arg)
|
rs1597843678
|
|
NM_001042492.3(NF1):c.6439C>A (p.Gln2147Lys)
|
rs1555534859
|
|
NM_001042492.3(NF1):c.643A>T (p.Ser215Cys)
|
rs1331838002
|
|
NM_001042492.3(NF1):c.6449_6460del (p.Arg2150_Leu2153del)
|
rs1555534860
|
|
NM_001042492.3(NF1):c.644G>A (p.Ser215Asn)
|
rs2143774620
|
|
NM_001042492.3(NF1):c.6458T>C (p.Leu2153Pro)
|
rs2069704188
|
|
NM_001042492.3(NF1):c.6466T>C (p.Phe2156Leu)
|
|
|
NM_001042492.3(NF1):c.646C>G (p.Leu216Val)
|
rs1597658201
|
|
NM_001042492.3(NF1):c.6475C>T (p.Pro2159Ser)
|
rs2151556095
|
|
NM_001042492.3(NF1):c.6478A>C (p.Lys2160Gln)
|
rs2151556114
|
|
NM_001042492.3(NF1):c.6479A>G (p.Lys2160Arg)
|
rs2151556119
|
|
NM_001042492.3(NF1):c.647T>G (p.Leu216Arg)
|
rs199474756
|
|
NM_001042492.3(NF1):c.6480A>T (p.Lys2160Asn)
|
|
|
NM_001042492.3(NF1):c.6488T>C (p.Leu2163Ser)
|
rs1353492847
|
|
NM_001042492.3(NF1):c.6489G>C (p.Leu2163Phe)
|
rs2151556147
|
|
NM_001042492.3(NF1):c.6499A>C (p.Ile2167Leu)
|
rs2069704731
|
|
NM_001042492.3(NF1):c.6499A>T (p.Ile2167Phe)
|
|
|
NM_001042492.3(NF1):c.64C>G (p.Pro22Ala)
|
rs1597625794
|
|
NM_001042492.3(NF1):c.64C>T (p.Pro22Ser)
|
rs1597625794
|
|
NM_001042492.3(NF1):c.6508G>A (p.Val2170Ile)
|
rs2069704816
|
|
NM_001042492.3(NF1):c.6520G>A (p.Ala2174Thr)
|
rs2069705000
|
|
NM_001042492.3(NF1):c.6521C>T (p.Ala2174Val)
|
rs1555534865
|
|
NM_001042492.3(NF1):c.6522T>C (p.Ala2174=)
|
|
|
NM_001042492.3(NF1):c.6523G>C (p.Val2175Leu)
|
|
|
NM_001042492.3(NF1):c.6526A>G (p.Ile2176Val)
|
rs2069705304
|
|
NM_001042492.3(NF1):c.6527T>C (p.Ile2176Thr)
|
rs2069705362
|
|
NM_001042492.3(NF1):c.6534C>T (p.Phe2178=)
|
|
|
NM_001042492.3(NF1):c.6535C>T (p.Arg2179Cys)
|
rs878853908
|
|
NM_001042492.3(NF1):c.6536G>A (p.Arg2179His)
|
rs772639479
|
|
NM_001042492.3(NF1):c.6536G>T (p.Arg2179Leu)
|
rs772639479
|
|
NM_001042492.3(NF1):c.653A>G (p.Lys218Arg)
|
rs1332171832
|
|
NM_001042492.3(NF1):c.654+2dup
|
|
|
NM_001042492.3(NF1):c.654+4del
|
rs1555608683
|
|
NM_001042492.3(NF1):c.6545A>G (p.Tyr2182Cys)
|
rs2069705839
|
|
NM_001042492.3(NF1):c.6548G>A (p.Arg2183Gln)
|
rs2069706142
|
|
NM_001042492.3(NF1):c.6548G>C (p.Arg2183Pro)
|
rs2069706142
|
|
NM_001042492.3(NF1):c.655-3T>G
|
rs746584147
|
|
NM_001042492.3(NF1):c.6555G>A (p.Arg2185=)
|
rs786203189
|
|
NM_001042492.3(NF1):c.6556T>C (p.Ser2186Pro)
|
rs765867354
|
|
NM_001042492.3(NF1):c.6559T>C (p.Phe2187Leu)
|
rs1555534876
|
|
NM_001042492.3(NF1):c.655G>C (p.Ala219Pro)
|
rs2066137928
|
|
NM_001042492.3(NF1):c.6563C>G (p.Ser2188Cys)
|
|
|
NM_001042492.3(NF1):c.6566C>T (p.Pro2189Leu)
|
rs2069706766
|
|
NM_001042492.3(NF1):c.656C>G (p.Ala219Gly)
|
rs1160353919
|
|
NM_001042492.3(NF1):c.656C>T (p.Ala219Val)
|
rs1160353919
|
|
NM_001042492.3(NF1):c.6571T>C (p.Ser2191Pro)
|
rs754630324
|
|
NM_001042492.3(NF1):c.6572C>T (p.Ser2191Phe)
|
rs765598479
|
|
NM_001042492.3(NF1):c.6574T>C (p.Tyr2192His)
|
rs267606598
|
|
NM_001042492.3(NF1):c.6575A>G (p.Tyr2192Cys)
|
|
|
NM_001042492.3(NF1):c.6575A>T (p.Tyr2192Phe)
|
|
|
NM_001042492.3(NF1):c.6577G>C (p.Glu2193Gln)
|
rs1135402891
|
|
NM_001042492.3(NF1):c.6581G>A (p.Arg2194Lys)
|
rs2069707550
|
|
NM_001042492.3(NF1):c.6583G>C (p.Glu2195Gln)
|
rs1597843959
|
|
NM_001042492.3(NF1):c.6585G>C (p.Glu2195Asp)
|
|
|
NM_001042492.3(NF1):c.6586A>G (p.Thr2196Ala)
|
rs372169109
|
|
NM_001042492.3(NF1):c.6587C>T (p.Thr2196Ile)
|
rs2151556471
|
|
NM_001042492.3(NF1):c.6592G>A (p.Ala2198Thr)
|
rs1555534882
|
|
NM_001042492.3(NF1):c.6597G>C (p.Leu2199Phe)
|
rs2151556504
|
|
NM_001042492.3(NF1):c.65C>T (p.Pro22Leu)
|
rs2065654347
|
|
NM_001042492.3(NF1):c.6602C>T (p.Ser2201Phe)
|
rs2151556524
|
|
NM_001042492.3(NF1):c.6611C>T (p.Thr2204Ile)
|
rs1597843996
|
|
NM_001042492.3(NF1):c.6620_6622del (p.Glu2207del)
|
rs2069708499
|
|
NM_001042492.3(NF1):c.6622G>A (p.Ala2208Thr)
|
rs2151556592
|
|
NM_001042492.3(NF1):c.6623C>G (p.Ala2208Gly)
|
rs1555534886
|
|
NM_001042492.3(NF1):c.6623C>T (p.Ala2208Val)
|
rs1555534886
|
|
NM_001042492.3(NF1):c.6630G>A (p.Leu2210=)
|
rs886052801
|
|
NM_001042492.3(NF1):c.6630G>C (p.Leu2210Phe)
|
rs886052801
|
|
NM_001042492.3(NF1):c.6635T>A (p.Ile2212Asn)
|
rs1597844075
|
|
NM_001042492.3(NF1):c.6637A>G (p.Met2213Val)
|
rs864622330
|
|
NM_001042492.3(NF1):c.6638T>C (p.Met2213Thr)
|
|
|
NM_001042492.3(NF1):c.6641A>G (p.Glu2214Gly)
|
|
|
NM_001042492.3(NF1):c.6642+18A>G
|
rs1555534893
|
|
NM_001042492.3(NF1):c.6642+26C>G
|
|
|
NM_001042492.3(NF1):c.6642+3A>G
|
rs1555534891
|
|
NM_001042492.3(NF1):c.6642+3A>T
|
|
|
NM_001042492.3(NF1):c.6642+5A>G
|
rs1567617536
|
|
NM_001042492.3(NF1):c.6642+6G>A
|
rs2069709590
|
|
NM_001042492.3(NF1):c.6642+6del
|
rs1597844152
|
|
NM_001042492.3(NF1):c.6643-18G>C
|
|
|
NM_001042492.3(NF1):c.6643-3T>A
|
rs1326745383
|
|
NM_001042492.3(NF1):c.6643-3T>G
|
rs1326745383
|
|
NM_001042492.3(NF1):c.6643-5T>G
|
rs1555534907
|
|
NM_001042492.3(NF1):c.6644C>T (p.Ala2215Val)
|
rs2069716487
|
|
NM_001042492.3(NF1):c.6646T>C (p.Cys2216Arg)
|
rs757736155
|
|
NM_001042492.3(NF1):c.6647G>T (p.Cys2216Phe)
|
rs1567617669
|
|
NM_001042492.3(NF1):c.6648C>T (p.Cys2216=)
|
rs1597844556
|
|
NM_001042492.3(NF1):c.6649A>G (p.Met2217Val)
|
rs876658255
|
|
NM_001042492.3(NF1):c.664A>G (p.Asn222Asp)
|
rs2143777490
|
|
NM_001042492.3(NF1):c.6650T>A (p.Met2217Lys)
|
rs2069716815
|
|
NM_001042492.3(NF1):c.6656A>T (p.Asp2219Val)
|
rs1567617676
|
|
NM_001042492.3(NF1):c.6657T>G (p.Asp2219Glu)
|
rs786203831
|
|
NM_001042492.3(NF1):c.6658A>C (p.Ile2220Leu)
|
rs781284066
|
|
NM_001042492.3(NF1):c.6658A>G (p.Ile2220Val)
|
rs781284066
|
|
NM_001042492.3(NF1):c.665A>C (p.Asn222Thr)
|
rs587781709
|
|
NM_001042492.3(NF1):c.6664A>T (p.Thr2222Ser)
|
|
|
NM_001042492.3(NF1):c.6679G>A (p.Asp2227Asn)
|
rs993364800
|
|
NM_001042492.3(NF1):c.6680A>T (p.Asp2227Val)
|
rs1485756462
|
|
NM_001042492.3(NF1):c.6681C>A (p.Asp2227Glu)
|
rs876659371
|
|
NM_001042492.3(NF1):c.6681C>G (p.Asp2227Glu)
|
rs876659371
|
|
NM_001042492.3(NF1):c.6691G>A (p.Glu2231Lys)
|
rs1024484381
|
|
NM_001042492.3(NF1):c.6693A>C (p.Glu2231Asp)
|
rs777588905
|
|
NM_001042492.3(NF1):c.6694C>G (p.Leu2232Val)
|
rs1597844673
|
|
NM_001042492.3(NF1):c.6697G>A (p.Ala2233Thr)
|
rs2069718829
|
|
NM_001042492.3(NF1):c.669G>T (p.Trp223Cys)
|
rs1057517967
|
|
NM_001042492.3(NF1):c.6700C>G (p.Gln2234Glu)
|
rs1567617727
|
|
NM_001042492.3(NF1):c.6701A>G (p.Gln2234Arg)
|
rs1597844689
|
|
NM_001042492.3(NF1):c.6704+4T>C
|
rs1555534930
|
|
NM_001042492.3(NF1):c.6704+5G>A
|
rs2069719353
|
|
NM_001042492.3(NF1):c.6704G>T (p.Arg2235Ile)
|
rs2069719031
|
|
NM_001042492.3(NF1):c.6705-14T>G
|
|
|
NM_001042492.3(NF1):c.6705-17G>A
|
rs1064795966
|
|
NM_001042492.3(NF1):c.6705-3C>T
|
|
|
NM_001042492.3(NF1):c.6705-5T>G
|
rs1597844956
|
|
NM_001042492.3(NF1):c.6705-9T>G
|
|
|
NM_001042492.3(NF1):c.6705-9_6705-8insGCAGATTG
|
rs2069723972
|
|
NM_001042492.3(NF1):c.6706T>A (p.Phe2236Ile)
|
rs2151558031
|
|
NM_001042492.3(NF1):c.6706T>C (p.Phe2236Leu)
|
|
|
NM_001042492.3(NF1):c.670G>C (p.Val224Leu)
|
rs1567826116
|
|
NM_001042492.3(NF1):c.6714C>A (p.Phe2238Leu)
|
rs2069724756
|
|
NM_001042492.3(NF1):c.6716A>T (p.Gln2239Leu)
|
rs1597844989
|
|
NM_001042492.3(NF1):c.6717A>G (p.Gln2239=)
|
rs2069724967
|
|
NM_001042492.3(NF1):c.6725C>T (p.Pro2242Leu)
|
|
|
NM_001042492.3(NF1):c.6730C>G (p.Leu2244Val)
|
|
|
NM_001042492.3(NF1):c.6736C>A (p.Pro2246Thr)
|
rs2151558118
|
|
NM_001042492.3(NF1):c.6745C>T (p.Leu2249Phe)
|
|
|
NM_001042492.3(NF1):c.6746T>G (p.Leu2249Arg)
|
rs2151558158
|
|
NM_001042492.3(NF1):c.6748G>C (p.Val2250Leu)
|
|
|
NM_001042492.3(NF1):c.6748G>T (p.Val2250Phe)
|
|
|
NM_001042492.3(NF1):c.6749T>C (p.Val2250Ala)
|
rs1567617869
|
|
NM_001042492.3(NF1):c.6751G>T (p.Val2251Phe)
|
|
|
NM_001042492.3(NF1):c.6757G>C (p.Gly2253Arg)
|
|
|
NM_001042492.3(NF1):c.6758G>A (p.Gly2253Glu)
|
rs876659295
|
|
NM_001042492.3(NF1):c.6762T>G (p.Cys2254Trp)
|
|
|
NM_001042492.3(NF1):c.6764T>G (p.Ile2255Ser)
|
rs2069726396
|
|
NM_001042492.3(NF1):c.6766A>G (p.Ser2256Gly)
|
|
|
NM_001042492.3(NF1):c.6768C>A (p.Ser2256Arg)
|
|
|
NM_001042492.3(NF1):c.676A>G (p.Asn226Asp)
|
|
|
NM_001042492.3(NF1):c.6771A>T (p.Lys2257Asn)
|
rs2151558249
|
|
NM_001042492.3(NF1):c.6772C>G (p.Arg2258Gly)
|
|
|
NM_001042492.3(NF1):c.6775G>A (p.Val2259Met)
|
rs1348782175
|
|
NM_001042492.3(NF1):c.677A>C (p.Asn226Thr)
|
rs770339628
|
|
NM_001042492.3(NF1):c.6781C>G (p.His2261Asp)
|
rs750869272
|
|
NM_001042492.3(NF1):c.6781C>T (p.His2261Tyr)
|
rs750869272
|
|
NM_001042492.3(NF1):c.6782A>C (p.His2261Pro)
|
rs201336602
|
|
NM_001042492.3(NF1):c.6782A>G (p.His2261Arg)
|
rs201336602
|
|
NM_001042492.3(NF1):c.6784G>T (p.Gly2262Trp)
|
rs1392981001
|
|
NM_001042492.3(NF1):c.6784_6801dup (p.Gly2262_Ile2267dup)
|
rs2151558293
|
|
NM_001042492.3(NF1):c.6787C>A (p.Gln2263Lys)
|
rs2069727121
|
|
NM_001042492.3(NF1):c.6791T>A (p.Ile2264Lys)
|
|
|
NM_001042492.3(NF1):c.6792A>G (p.Ile2264Met)
|
|
|
NM_001042492.3(NF1):c.6794A>G (p.Lys2265Arg)
|
rs1060500258
|
|
NM_001042492.3(NF1):c.6794A>T (p.Lys2265Met)
|
rs1060500258
|
|
NM_001042492.3(NF1):c.6798G>T (p.Gln2266His)
|
|
|
NM_001042492.3(NF1):c.6799A>G (p.Ile2267Val)
|
|
|
NM_001042492.3(NF1):c.679T>C (p.Tyr227His)
|
rs780682850
|
|
NM_001042492.3(NF1):c.6801A>G (p.Ile2267Met)
|
rs876659381
|
|
NM_001042492.3(NF1):c.6805C>G (p.Arg2269Gly)
|
rs1555534961
|
|
NM_001042492.3(NF1):c.6805C>T (p.Arg2269Cys)
|
rs1555534961
|
|
NM_001042492.3(NF1):c.6808A>G (p.Ile2270Val)
|
|
|
NM_001042492.3(NF1):c.680A>G (p.Tyr227Cys)
|
|
|
NM_001042492.3(NF1):c.6811C>T (p.Leu2271Phe)
|
rs2151558388
|
|
NM_001042492.3(NF1):c.6815G>C (p.Ser2272Thr)
|
|
|
NM_001042492.3(NF1):c.6818A>G (p.Lys2273Arg)
|
rs1060500344
|
|
NM_001042492.3(NF1):c.6819+3_6819+4del
|
|
|
NM_001042492.3(NF1):c.6819+3del
|
rs2069728377
|
|
NM_001042492.3(NF1):c.6819+5C>A
|
rs876659499
|
|
NM_001042492.3(NF1):c.6819G>T (p.Lys2273Asn)
|
rs1060500373
|
|
NM_001042492.3(NF1):c.6820-10T>G
|
rs1597845883
|
|
NM_001042492.3(NF1):c.6820-14T>G
|
|
|
NM_001042492.3(NF1):c.6820-29_6820-5del
|
|
|
NM_001042492.3(NF1):c.6820-6T>C
|
rs1597845896
|
|
NM_001042492.3(NF1):c.6820-7C>A
|
rs1555535020
|
|
NM_001042492.3(NF1):c.6820-8C>G
|
rs1060503909
|
|
NM_001042492.3(NF1):c.6820-8C>T
|
rs1060503909
|
|
NM_001042492.3(NF1):c.6821C>G (p.Ala2274Gly)
|
rs2069742248
|
|
NM_001042492.3(NF1):c.6826G>A (p.Glu2276Lys)
|
rs2069742475
|
|
NM_001042492.3(NF1):c.6830G>A (p.Ser2277Asn)
|
rs1597845918
|
|
NM_001042492.3(NF1):c.6832T>A (p.Cys2278Ser)
|
rs2069742802
|
|
NM_001042492.3(NF1):c.6832T>G (p.Cys2278Gly)
|
|
|
NM_001042492.3(NF1):c.6835T>A (p.Leu2279Ile)
|
|
|
NM_001042492.3(NF1):c.6841G>A (p.Gly2281Arg)
|
|
|
NM_001042492.3(NF1):c.6845C>G (p.Pro2282Arg)
|
rs2069743547
|
|
NM_001042492.3(NF1):c.6850A>G (p.Thr2284Ala)
|
rs1597845953
|
|
NM_001042492.3(NF1):c.6858C>G (p.Asn2286Lys)
|
rs2151559216
|
|
NM_001042492.3(NF1):c.685G>C (p.Asp229His)
|
rs2066138591
|
|
NM_001042492.3(NF1):c.6861T>G (p.Ser2287Arg)
|
rs2069744324
|
|
NM_001042492.3(NF1):c.6864A>G (p.Gln2288=)
|
rs1064794756
|
|
NM_001042492.3(NF1):c.6865G>C (p.Val2289Leu)
|
rs943381724
|
|
NM_001042492.3(NF1):c.6869T>C (p.Leu2290Pro)
|
|
|
NM_001042492.3(NF1):c.686A>G (p.Asp229Gly)
|
rs1060500285
|
|
NM_001042492.3(NF1):c.686A>T (p.Asp229Val)
|
|
|
NM_001042492.3(NF1):c.6871A>C (p.Ile2291Leu)
|
rs876659722
|
|
NM_001042492.3(NF1):c.6877_6878delinsAG (p.Ala2293Ser)
|
|
|
NM_001042492.3(NF1):c.6881C>T (p.Thr2294Ile)
|
rs786201902
|
|
NM_001042492.3(NF1):c.6883G>T (p.Val2295Leu)
|
rs2151559300
|
|
NM_001042492.3(NF1):c.6886_6903del (p.Ile2296_Leu2301del)
|
rs2069744859
|
|
NM_001042492.3(NF1):c.6887T>C (p.Ile2296Thr)
|
rs1212022548
|
|
NM_001042492.3(NF1):c.6889G>A (p.Ala2297Thr)
|
rs2151559310
|
|
NM_001042492.3(NF1):c.6890C>G (p.Ala2297Gly)
|
rs2069744965
|
|
NM_001042492.3(NF1):c.6893T>C (p.Leu2298Pro)
|
rs1597846070
|
|
NM_001042492.3(NF1):c.6896C>T (p.Thr2299Ile)
|
|
|
NM_001042492.3(NF1):c.6900A>C (p.Lys2300Asn)
|
rs786203861
|
|
NM_001042492.3(NF1):c.6900A>T (p.Lys2300Asn)
|
rs786203861
|
|
NM_001042492.3(NF1):c.6906G>T (p.Gln2302His)
|
|
|
NM_001042492.3(NF1):c.6908C>T (p.Pro2303Leu)
|
rs2151559381
|
|
NM_001042492.3(NF1):c.690A>C (p.Glu230Asp)
|
rs2066138707
|
|
NM_001042492.3(NF1):c.6917A>T (p.Asn2306Ile)
|
|
|
NM_001042492.3(NF1):c.6918T>A (p.Asn2306Lys)
|
rs1597846111
|
|
NM_001042492.3(NF1):c.6919_6921del (p.Lys2307del)
|
rs587782819
|
|
NM_001042492.3(NF1):c.691T>G (p.Phe231Val)
|
rs2143777882
|
|
NM_001042492.3(NF1):c.6920A>G (p.Lys2307Arg)
|
rs765418194
|
|
NM_001042492.3(NF1):c.6921+2_6921+3dup
|
|
|
NM_001042492.3(NF1):c.6921+3A>C
|
rs1085307885
|
|
NM_001042492.3(NF1):c.6921+3_6921+64dup
|
rs2151559419
|
|
NM_001042492.3(NF1):c.6921+6T>G
|
rs368541645
|
|
NM_001042492.3(NF1):c.6921G>T (p.Lys2307Asn)
|
rs1057523533
|
|
NM_001042492.3(NF1):c.6922-3C>T
|
rs876659438
|
|
NM_001042492.3(NF1):c.6922-9_6922-7del
|
rs2151561376
|
|
NM_001042492.3(NF1):c.6922G>A (p.Asp2308Asn)
|
rs775660003
|
|
NM_001042492.3(NF1):c.6922G>T (p.Asp2308Tyr)
|
|
|
NM_001042492.3(NF1):c.6925T>G (p.Ser2309Ala)
|
rs2151561428
|
|
NM_001042492.3(NF1):c.6926C>T (p.Ser2309Leu)
|
rs1555535159
|
|
NM_001042492.3(NF1):c.6928C>G (p.Pro2310Ala)
|
|
|
NM_001042492.3(NF1):c.6928C>T (p.Pro2310Ser)
|
rs2069789708
|
|
NM_001042492.3(NF1):c.6931C>G (p.Leu2311Val)
|
rs1044698498
|
|
NM_001042492.3(NF1):c.6938A>G (p.Lys2313Arg)
|
rs2069790077
|
|
NM_001042492.3(NF1):c.693_694delinsCT (p.Thr232Ser)
|
rs1555608748
|
|
NM_001042492.3(NF1):c.6941C>T (p.Ala2314Val)
|
rs2151561523
|
|
NM_001042492.3(NF1):c.6943C>G (p.Leu2315Val)
|
rs1361377546
|
|
NM_001042492.3(NF1):c.6946T>C (p.Phe2316Leu)
|
|
|
NM_001042492.3(NF1):c.6948T>G (p.Phe2316Leu)
|
rs1597847958
|
|
NM_001042492.3(NF1):c.6949T>G (p.Trp2317Gly)
|
rs1060500297
|
|
NM_001042492.3(NF1):c.694A>G (p.Thr232Ala)
|
rs876660027
|
|
NM_001042492.3(NF1):c.694A>T (p.Thr232Ser)
|
rs876660027
|
|
NM_001042492.3(NF1):c.6951G>C (p.Trp2317Cys)
|
rs2069790642
|
|
NM_001042492.3(NF1):c.6952G>T (p.Val2318Leu)
|
rs760528229
|
|
NM_001042492.3(NF1):c.6953T>A (p.Val2318Glu)
|
|
|
NM_001042492.3(NF1):c.6953T>C (p.Val2318Ala)
|
rs2069790813
|
|
NM_001042492.3(NF1):c.6955G>A (p.Ala2319Thr)
|
rs786203881
|
|
NM_001042492.3(NF1):c.6955G>C (p.Ala2319Pro)
|
rs786203881
|
|
NM_001042492.3(NF1):c.6955_6969del (p.Ala2319_Leu2323del)
|
rs2069790969
|
|
NM_001042492.3(NF1):c.6956C>T (p.Ala2319Val)
|
|
|
NM_001042492.3(NF1):c.6959T>C (p.Val2320Ala)
|
rs2069791087
|
|
NM_001042492.3(NF1):c.6959T>G (p.Val2320Gly)
|
|
|
NM_001042492.3(NF1):c.695C>G (p.Thr232Arg)
|
rs769719064
|
|
NM_001042492.3(NF1):c.695C>T (p.Thr232Ile)
|
rs769719064
|
|
NM_001042492.3(NF1):c.6968T>C (p.Leu2323Pro)
|
rs1131691267
|
|
NM_001042492.3(NF1):c.6971A>G (p.Gln2324Arg)
|
|
|
NM_001042492.3(NF1):c.6972G>C (p.Gln2324His)
|
|
|
NM_001042492.3(NF1):c.6973C>A (p.Leu2325Ile)
|
rs1597848038
|
|
NM_001042492.3(NF1):c.6976G>A (p.Asp2326Asn)
|
rs1374858930
|
|
NM_001042492.3(NF1):c.6977A>G (p.Asp2326Gly)
|
|
|
NM_001042492.3(NF1):c.6977A>T (p.Asp2326Val)
|
rs2069791654
|
|
NM_001042492.3(NF1):c.6978T>C (p.Asp2326=)
|
rs1135402896
|
|
NM_001042492.3(NF1):c.697A>C (p.Lys233Gln)
|
rs922257267
|
|
NM_001042492.3(NF1):c.697A>G (p.Lys233Glu)
|
rs922257267
|
|
NM_001042492.3(NF1):c.6985A>G (p.Asn2329Asp)
|
rs1597848075
|
|
NM_001042492.3(NF1):c.6986A>G (p.Asn2329Ser)
|
rs1597848079
|
|
NM_001042492.3(NF1):c.698A>G (p.Lys233Arg)
|
rs2066138986
|
|
NM_001042492.3(NF1):c.6990_6991insATGAGG (p.Leu2330_Tyr2331insMetArg)
|
rs1597848085
|
|
NM_001042492.3(NF1):c.6992A>T (p.Tyr2331Phe)
|
rs1060500304
|
|
NM_001042492.3(NF1):c.6995CAG[1] (p.Ala2333del)
|
rs2151561758
|
|
NM_001042492.3(NF1):c.6996A>C (p.Ser2332=)
|
|
|
NM_001042492.3(NF1):c.6997G>T (p.Ala2333Ser)
|
rs1555535178
|
|
NM_001042492.3(NF1):c.69A>G (p.Ile23Met)
|
rs1555604870
|
|
NM_001042492.3(NF1):c.7000G>C (p.Gly2334Arg)
|
rs1597848100
|
|
NM_001042492.3(NF1):c.7002T>G (p.Gly2334=)
|
|
|
NM_001042492.3(NF1):c.7003A>C (p.Thr2335Pro)
|
rs370209920
|
|
NM_001042492.3(NF1):c.7004C>A (p.Thr2335Asn)
|
|
|
NM_001042492.3(NF1):c.7006G>C (p.Ala2336Pro)
|
rs587781428
|
|
NM_001042492.3(NF1):c.7006G>T (p.Ala2336Ser)
|
rs587781428
|
|
NM_001042492.3(NF1):c.7007C>A (p.Ala2336Glu)
|
rs886052802
|
|
NM_001042492.3(NF1):c.7010T>G (p.Leu2337Arg)
|
rs1555535179
|
|
NM_001042492.3(NF1):c.7012C>G (p.Leu2338Val)
|
rs1597848149
|
|
NM_001042492.3(NF1):c.7025T>C (p.Leu2342Pro)
|
|
|
NM_001042492.3(NF1):c.7025T>G (p.Leu2342Arg)
|
rs2151561874
|
|
NM_001042492.3(NF1):c.7027C>T (p.His2343Tyr)
|
rs781578248
|
|
NM_001042492.3(NF1):c.7028A>G (p.His2343Arg)
|
|
|
NM_001042492.3(NF1):c.702_703inv (p.Tyr235His)
|
|
|
NM_001042492.3(NF1):c.7030A>G (p.Thr2344Ala)
|
rs1555535189
|
|
NM_001042492.3(NF1):c.7031C>G (p.Thr2344Ser)
|
|
|
NM_001042492.3(NF1):c.7031C>T (p.Thr2344Ile)
|
rs2069793613
|
|
NM_001042492.3(NF1):c.7033T>G (p.Leu2345Val)
|
|
|
NM_001042492.3(NF1):c.7034T>C (p.Leu2345Ser)
|
rs1555535195
|
|
NM_001042492.3(NF1):c.7036G>A (p.Asp2346Asn)
|
rs2069793959
|
|
NM_001042492.3(NF1):c.7036G>C (p.Asp2346His)
|
rs2069793959
|
|
NM_001042492.3(NF1):c.7037A>G (p.Asp2346Gly)
|
rs2151561935
|
|
NM_001042492.3(NF1):c.7038T>G (p.Asp2346Glu)
|
|
|
NM_001042492.3(NF1):c.7040G>C (p.Ser2347Thr)
|
rs1567619102
|
|
NM_001042492.3(NF1):c.7042C>T (p.Leu2348Phe)
|
|
|
NM_001042492.3(NF1):c.7043T>G (p.Leu2348Arg)
|
rs1597848222
|
|
NM_001042492.3(NF1):c.7045C>G (p.Arg2349Gly)
|
rs56013763
|
|
NM_001042492.3(NF1):c.7046G>T (p.Arg2349Leu)
|
rs864622065
|
|
NM_001042492.3(NF1):c.7048A>C (p.Ile2350Leu)
|
rs1381254564
|
|
NM_001042492.3(NF1):c.7048A>G (p.Ile2350Val)
|
|
|
NM_001042492.3(NF1):c.7049T>A (p.Ile2350Lys)
|
rs2069794814
|
|
NM_001042492.3(NF1):c.7050A>G (p.Ile2350Met)
|
|
|
NM_001042492.3(NF1):c.7054A>G (p.Asn2352Asp)
|
rs1441937734
|
|
NM_001042492.3(NF1):c.7057_7059del (p.Asp2353del)
|
rs786203558
|
|
NM_001042492.3(NF1):c.7060A>G (p.Lys2354Glu)
|
rs2069795315
|
|
NM_001042492.3(NF1):c.7062+17T>G
|
rs2151562120
|
|
NM_001042492.3(NF1):c.7062+3A>G
|
|
|
NM_001042492.3(NF1):c.7062+3A>T
|
|
|
NM_001042492.3(NF1):c.7062+3_7062+31del
|
|
|
NM_001042492.3(NF1):c.7062+6C>G
|
rs2069795623
|
|
NM_001042492.3(NF1):c.7062+6C>T
|
|
|
NM_001042492.3(NF1):c.7063-3T>C
|
rs1241158120
|
|
NM_001042492.3(NF1):c.7063-3T>G
|
rs1241158120
|
|
NM_001042492.3(NF1):c.7063-4A>G
|
rs749805168
|
|
NM_001042492.3(NF1):c.7063-7T>A
|
|
|
NM_001042492.3(NF1):c.7063-9_7063-7del
|
|
|
NM_001042492.3(NF1):c.7064G>A (p.Ser2355Asn)
|
rs1555535399
|
|
NM_001042492.3(NF1):c.7065T>A (p.Ser2355Arg)
|
|
|
NM_001042492.3(NF1):c.7066C>T (p.Pro2356Ser)
|
rs2151564948
|
|
NM_001042492.3(NF1):c.7067C>A (p.Pro2356Gln)
|
rs1555535402
|
|
NM_001042492.3(NF1):c.7069G>A (p.Glu2357Lys)
|
rs199474784
|
|
NM_001042492.3(NF1):c.706C>G (p.Gln236Glu)
|
rs1597658664
|
|
NM_001042492.3(NF1):c.7070A>G (p.Glu2357Gly)
|
rs786203596
|
|
NM_001042492.3(NF1):c.7070A>T (p.Glu2357Val)
|
rs786203596
|
|
NM_001042492.3(NF1):c.7072G>C (p.Glu2358Gln)
|
rs2069865899
|
|
NM_001042492.3(NF1):c.7073A>G (p.Glu2358Gly)
|
|
|
NM_001042492.3(NF1):c.7078T>C (p.Phe2360Leu)
|
rs2069866148
|
|
NM_001042492.3(NF1):c.7078T>G (p.Phe2360Val)
|
rs2069866148
|
|
NM_001042492.3(NF1):c.7079T>G (p.Phe2360Cys)
|
rs1567620390
|
|
NM_001042492.3(NF1):c.707A>G (p.Gln236Arg)
|
rs1321998864
|
|
NM_001042492.3(NF1):c.7081A>G (p.Met2361Val)
|
rs1022562410
|
|
NM_001042492.3(NF1):c.7082T>C (p.Met2361Thr)
|
|
|
NM_001042492.3(NF1):c.7083G>A (p.Met2361Ile)
|
rs1293010884
|
|
NM_001042492.3(NF1):c.7089C>G (p.Ile2363Met)
|
rs2069866501
|
|
NM_001042492.3(NF1):c.7090C>T (p.Arg2364Trp)
|
rs1567620403
|
|
NM_001042492.3(NF1):c.7097C>G (p.Pro2366Arg)
|
rs1597851311
|
|
NM_001042492.3(NF1):c.7097C>T (p.Pro2366Leu)
|
rs1597851311
|
|
NM_001042492.3(NF1):c.7099C>G (p.Leu2367Val)
|
rs1259241665
|
|
NM_001042492.3(NF1):c.709A>G (p.Ile237Val)
|
|
|
NM_001042492.3(NF1):c.7102G>A (p.Glu2368Lys)
|
rs2151565046
|
|
NM_001042492.3(NF1):c.7102G>C (p.Glu2368Gln)
|
|
|
NM_001042492.3(NF1):c.7108C>T (p.His2370Tyr)
|
rs587781479
|
|
NM_001042492.3(NF1):c.7113C>T (p.Cys2371=)
|
rs2069867490
|
|
NM_001042492.3(NF1):c.711C>G (p.Ile237Met)
|
rs2066139444
|
|
NM_001042492.3(NF1):c.7120A>G (p.Met2374Val)
|
rs2069867800
|
|
NM_001042492.3(NF1):c.7121T>G (p.Met2374Arg)
|
|
|
NM_001042492.3(NF1):c.7122G>A (p.Met2374Ile)
|
rs2151565097
|
|
NM_001042492.3(NF1):c.7125T>A (p.Asp2375Glu)
|
rs1597851343
|
|
NM_001042492.3(NF1):c.712C>G (p.Pro238Ala)
|
rs1060500365
|
|
NM_001042492.3(NF1):c.7138C>T (p.Leu2380Phe)
|
rs2069868324
|
|
NM_001042492.3(NF1):c.7144T>A (p.Phe2382Ile)
|
rs2069868688
|
|
NM_001042492.3(NF1):c.7148A>C (p.Asn2383Thr)
|
|
|
NM_001042492.3(NF1):c.7150T>C (p.Ser2384Pro)
|
rs1555535429
|
|
NM_001042492.3(NF1):c.7153A>C (p.Asn2385His)
|
|
|
NM_001042492.3(NF1):c.7156T>G (p.Phe2386Val)
|
rs1597851418
|
|
NM_001042492.3(NF1):c.7157T>C (p.Phe2386Ser)
|
rs1555535439
|
|
NM_001042492.3(NF1):c.7160A>C (p.Asn2387Thr)
|
rs2069869339
|
|
NM_001042492.3(NF1):c.7160A>G (p.Asn2387Ser)
|
|
|
NM_001042492.3(NF1):c.7161C>G (p.Asn2387Lys)
|
rs1555535444
|
|
NM_001042492.3(NF1):c.7162T>A (p.Phe2388Ile)
|
rs1425642121
|
|
NM_001042492.3(NF1):c.7162T>C (p.Phe2388Leu)
|
rs1425642121
|
|
NM_001042492.3(NF1):c.7170G>C (p.Leu2390Phe)
|
rs751081026
|
|
NM_001042492.3(NF1):c.7170G>T (p.Leu2390Phe)
|
rs751081026
|
|
NM_001042492.3(NF1):c.7172T>C (p.Val2391Ala)
|
rs2069869918
|
|
NM_001042492.3(NF1):c.7174G>C (p.Gly2392Arg)
|
rs1357330262
|
|
NM_001042492.3(NF1):c.7177C>T (p.His2393Tyr)
|
rs1597851468
|
|
NM_001042492.3(NF1):c.7178A>G (p.His2393Arg)
|
rs2069870134
|
|
NM_001042492.3(NF1):c.7179C>A (p.His2393Gln)
|
rs2069870191
|
|
NM_001042492.3(NF1):c.7179C>G (p.His2393Gln)
|
rs2069870191
|
|
NM_001042492.3(NF1):c.7180C>G (p.Leu2394Val)
|
rs1555535452
|
|
NM_001042492.3(NF1):c.7181T>A (p.Leu2394His)
|
rs1135402899
|
|
NM_001042492.3(NF1):c.7183T>G (p.Leu2395Val)
|
rs1567620503
|
|
NM_001042492.3(NF1):c.7189+4A>C
|
rs756834212
|
|
NM_001042492.3(NF1):c.7189+6A>C
|
|
|
NM_001042492.3(NF1):c.7189G>C (p.Gly2397Arg)
|
rs1135402900
|
|
NM_001042492.3(NF1):c.7190-3T>C
|
rs2070073286
|
|
NM_001042492.3(NF1):c.7190-5T>G
|
rs748245325
|
|
NM_001042492.3(NF1):c.7190G>A (p.Gly2397Glu)
|
rs2070073482
|
|
NM_001042492.3(NF1):c.7196G>A (p.Arg2399Lys)
|
|
|
NM_001042492.3(NF1):c.7197G>T (p.Arg2399Ser)
|
|
|
NM_001042492.3(NF1):c.7198C>T (p.His2400Tyr)
|
rs1567623421
|
|
NM_001042492.3(NF1):c.7199A>G (p.His2400Arg)
|
rs1597858362
|
|
NM_001042492.3(NF1):c.7201C>T (p.Pro2401Ser)
|
rs1597858372
|
|
NM_001042492.3(NF1):c.7204T>G (p.Ser2402Ala)
|
rs1287571228
|
|
NM_001042492.3(NF1):c.7217T>C (p.Val2406Ala)
|
rs950181978
|
|
NM_001042492.3(NF1):c.7219G>C (p.Ala2407Pro)
|
rs2151572572
|
|
NM_001042492.3(NF1):c.721G>A (p.Asp241Asn)
|
rs2066139718
|
|
NM_001042492.3(NF1):c.7220C>G (p.Ala2407Gly)
|
rs2151572575
|
|
NM_001042492.3(NF1):c.7223G>A (p.Arg2408Lys)
|
rs1597858407
|
|
NM_001042492.3(NF1):c.7225A>G (p.Thr2409Ala)
|
rs1555536021
|
|
NM_001042492.3(NF1):c.7226C>T (p.Thr2409Ile)
|
rs1597858415
|
|
NM_001042492.3(NF1):c.7228G>A (p.Val2410Ile)
|
rs1060500372
|
|
NM_001042492.3(NF1):c.7228G>C (p.Val2410Leu)
|
rs1060500372
|
|
NM_001042492.3(NF1):c.722A>C (p.Asp241Ala)
|
|
|
NM_001042492.3(NF1):c.7233A>T (p.Arg2411Ser)
|
|
|
NM_001042492.3(NF1):c.7235T>G (p.Ile2412Ser)
|
|
|
NM_001042492.3(NF1):c.7237T>G (p.Leu2413Val)
|
|
|
NM_001042492.3(NF1):c.7240C>T (p.His2414Tyr)
|
rs2070075234
|
|
NM_001042492.3(NF1):c.7241A>C (p.His2414Pro)
|
rs876659855
|
|
NM_001042492.3(NF1):c.7243A>G (p.Thr2415Ala)
|
|
|
NM_001042492.3(NF1):c.7246C>G (p.Leu2416Val)
|
rs786201310
|
|
NM_001042492.3(NF1):c.7246C>T (p.Leu2416=)
|
rs786201310
|
|
NM_001042492.3(NF1):c.7246CTA[1] (p.Leu2417del)
|
rs1555536023
|
|
NM_001042492.3(NF1):c.7249C>G (p.Leu2417Val)
|
rs2070075539
|
|
NM_001042492.3(NF1):c.724A>G (p.Met242Val)
|
rs1555608762
|
|
NM_001042492.3(NF1):c.7253C>G (p.Thr2418Ser)
|
|
|
NM_001042492.3(NF1):c.7256T>G (p.Leu2419Arg)
|
rs2070075780
|
|
NM_001042492.3(NF1):c.7258G>A (p.Val2420Ile)
|
rs1597858484
|
|
NM_001042492.3(NF1):c.7258G>C (p.Val2420Leu)
|
rs1597858484
|
|
NM_001042492.3(NF1):c.725T>C (p.Met242Thr)
|
rs1555608765
|
|
NM_001042492.3(NF1):c.725T>G (p.Met242Arg)
|
rs1555608765
|
|
NM_001042492.3(NF1):c.7262A>C (p.Asn2421Thr)
|
rs774339063
|
|
NM_001042492.3(NF1):c.7262A>G (p.Asn2421Ser)
|
rs774339063
|
|
NM_001042492.3(NF1):c.7265A>G (p.Lys2422Arg)
|
rs1597858501
|
|
NM_001042492.3(NF1):c.7267C>T (p.His2423Tyr)
|
rs761299521
|
|
NM_001042492.3(NF1):c.7269C>A (p.His2423Gln)
|
|
|
NM_001042492.3(NF1):c.7269C>G (p.His2423Gln)
|
|
|
NM_001042492.3(NF1):c.7272A>C (p.Arg2424Ser)
|
rs139997141
|
|
NM_001042492.3(NF1):c.7274A>G (p.Asn2425Ser)
|
rs2070076752
|
|
NM_001042492.3(NF1):c.7276T>G (p.Cys2426Gly)
|
rs767059035
|
|
NM_001042492.3(NF1):c.727G>A (p.Ala243Thr)
|
|
|
NM_001042492.3(NF1):c.7281C>A (p.Asp2427Glu)
|
rs1567623519
|
|
NM_001042492.3(NF1):c.7283A>T (p.Lys2428Ile)
|
rs2070077385
|
|
NM_001042492.3(NF1):c.7286T>C (p.Phe2429Ser)
|
|
|
NM_001042492.3(NF1):c.7289A>C (p.Glu2430Ala)
|
rs876659449
|
|
NM_001042492.3(NF1):c.7291G>A (p.Val2431Met)
|
|
|
NM_001042492.3(NF1):c.7292T>C (p.Val2431Ala)
|
|
|
NM_001042492.3(NF1):c.7292T>G (p.Val2431Gly)
|
rs2070077893
|
|
NM_001042492.3(NF1):c.7294A>C (p.Asn2432His)
|
|
|
NM_001042492.3(NF1):c.7295A>G (p.Asn2432Ser)
|
rs2070077965
|
|
NM_001042492.3(NF1):c.7297A>G (p.Thr2433Ala)
|
rs1597858568
|
|
NM_001042492.3(NF1):c.730+4A>G
|
rs767510113
|
|
NM_001042492.3(NF1):c.730+5G>A
|
rs1567826200
|
|
NM_001042492.3(NF1):c.730+6G>C
|
rs1444298546
|
|
NM_001042492.3(NF1):c.730+6G>T
|
|
|
NM_001042492.3(NF1):c.7301A>C (p.Gln2434Pro)
|
|
|
NM_001042492.3(NF1):c.7302G>C (p.Gln2434His)
|
|
|
NM_001042492.3(NF1):c.7303A>G (p.Ser2435Gly)
|
rs1555536038
|
|
NM_001042492.3(NF1):c.7303A>T (p.Ser2435Cys)
|
rs1555536038
|
|
NM_001042492.3(NF1):c.7304G>A (p.Ser2435Asn)
|
rs2151572910
|
|
NM_001042492.3(NF1):c.7306G>C (p.Val2436Leu)
|
rs876659856
|
|
NM_001042492.3(NF1):c.7309G>A (p.Ala2437Thr)
|
|
|
NM_001042492.3(NF1):c.730G>A (p.Glu244Lys)
|
rs1567826188
|
|
NM_001042492.3(NF1):c.731-3C>G
|
|
|
NM_001042492.3(NF1):c.7310C>A (p.Ala2437Asp)
|
rs2070078591
|
|
NM_001042492.3(NF1):c.7310C>T (p.Ala2437Val)
|
|
|
NM_001042492.3(NF1):c.7316T>C (p.Leu2439Ser)
|
rs2070078996
|
|
NM_001042492.3(NF1):c.7317A>C (p.Leu2439Phe)
|
rs1597858633
|
|
NM_001042492.3(NF1):c.7317AGC[1] (p.Ala2441del)
|
rs1085307506
|
|
NM_001042492.3(NF1):c.7321+3A>G
|
rs1597858650
|
|
NM_001042492.3(NF1):c.7321+6A>G
|
rs1597858669
|
|
NM_001042492.3(NF1):c.7322-14C>A
|
|
|
NM_001042492.3(NF1):c.7327C>G (p.Leu2443Val)
|
|
|
NM_001042492.3(NF1):c.7330A>G (p.Thr2444Ala)
|
rs2070103253
|
|
NM_001042492.3(NF1):c.7334T>C (p.Val2445Ala)
|
rs1567623931
|
|
NM_001042492.3(NF1):c.7334T>G (p.Val2445Gly)
|
rs1567623931
|
|
NM_001042492.3(NF1):c.7336T>G (p.Ser2446Ala)
|
rs2151574285
|
|
NM_001042492.3(NF1):c.7339G>C (p.Glu2447Gln)
|
rs878853914
|
|
NM_001042492.3(NF1):c.7340AAG[1] (p.Glu2448del)
|
rs587781961
|
|
NM_001042492.3(NF1):c.7343A>C (p.Glu2448Ala)
|
rs1597859599
|
|
NM_001042492.3(NF1):c.7343A>G (p.Glu2448Gly)
|
|
|
NM_001042492.3(NF1):c.7346T>C (p.Val2449Ala)
|
|
|
NM_001042492.3(NF1):c.734G>A (p.Cys245Tyr)
|
rs587781869
|
|
NM_001042492.3(NF1):c.734G>C (p.Cys245Ser)
|
|
|
NM_001042492.3(NF1):c.7355G>A (p.Arg2452His)
|
rs1555536122
|
|
NM_001042492.3(NF1):c.7355G>C (p.Arg2452Pro)
|
|
|
NM_001042492.3(NF1):c.7355G>T (p.Arg2452Leu)
|
rs1555536122
|
|
NM_001042492.3(NF1):c.7357T>C (p.Cys2453Arg)
|
|
|
NM_001042492.3(NF1):c.7357_7359del (p.Cys2453del)
|
|
|
NM_001042492.3(NF1):c.7358G>A (p.Cys2453Tyr)
|
|
|
NM_001042492.3(NF1):c.7361G>C (p.Ser2454Thr)
|
rs1555536127
|
|
NM_001042492.3(NF1):c.7366A>C (p.Lys2456Gln)
|
rs2151574384
|
|
NM_001042492.3(NF1):c.7368A>C (p.Lys2456Asn)
|
rs201287021
|
|
NM_001042492.3(NF1):c.7369C>T (p.His2457Tyr)
|
rs768404575
|
|
NM_001042492.3(NF1):c.736G>T (p.Ala246Ser)
|
rs1597659751
|
|
NM_001042492.3(NF1):c.7373G>A (p.Arg2458Lys)
|
rs1555536130
|
|
NM_001042492.3(NF1):c.7374A>C (p.Arg2458Ser)
|
rs2070105352
|
|
NM_001042492.3(NF1):c.7379C>T (p.Ser2460Leu)
|
rs2151574431
|
|
NM_001042492.3(NF1):c.7381C>G (p.Leu2461Val)
|
rs1199046022
|
|
NM_001042492.3(NF1):c.7381C>T (p.Leu2461Phe)
|
rs1199046022
|
|
NM_001042492.3(NF1):c.7381CTT[2] (p.Leu2463del)
|
rs786203184
|
|
NM_001042492.3(NF1):c.7382T>A (p.Leu2461His)
|
rs2070105653
|
|
NM_001042492.3(NF1):c.7384C>A (p.Leu2462Ile)
|
|
|
NM_001042492.3(NF1):c.7385T>C (p.Leu2462Pro)
|
rs1060500302
|
|
NM_001042492.3(NF1):c.7387C>G (p.Leu2463Val)
|
rs2070105859
|
|
NM_001042492.3(NF1):c.7387C>T (p.Leu2463Phe)
|
|
|
NM_001042492.3(NF1):c.7390A>C (p.Thr2464Pro)
|
|
|
NM_001042492.3(NF1):c.7391C>T (p.Thr2464Ile)
|
rs1597859696
|
|
NM_001042492.3(NF1):c.7396A>C (p.Ile2466Leu)
|
rs748027595
|
|
NM_001042492.3(NF1):c.7399T>G (p.Ser2467Ala)
|
|
|
NM_001042492.3(NF1):c.7400C>T (p.Ser2467Leu)
|
rs1555536135
|
|
NM_001042492.3(NF1):c.7406A>G (p.Glu2469Gly)
|
rs1281096294
|
|
NM_001042492.3(NF1):c.7406A>T (p.Glu2469Val)
|
rs1281096294
|
|
NM_001042492.3(NF1):c.740A>G (p.Glu247Gly)
|
rs864622385
|
|
NM_001042492.3(NF1):c.740A>T (p.Glu247Val)
|
|
|
NM_001042492.3(NF1):c.7411G>A (p.Val2471Ile)
|
rs876660126
|
|
NM_001042492.3(NF1):c.7412T>C (p.Val2471Ala)
|
|
|
NM_001042492.3(NF1):c.7414C>T (p.Pro2472Ser)
|
rs2151574519
|
|
NM_001042492.3(NF1):c.7415C>G (p.Pro2472Arg)
|
rs786202184
|
|
NM_001042492.3(NF1):c.7415C>T (p.Pro2472Leu)
|
rs786202184
|
|
NM_001042492.3(NF1):c.7417A>G (p.Met2473Val)
|
rs1555536144
|
|
NM_001042492.3(NF1):c.7420G>T (p.Asp2474Tyr)
|
rs1405212000
|
|
NM_001042492.3(NF1):c.7421A>G (p.Asp2474Gly)
|
rs2070107259
|
|
NM_001042492.3(NF1):c.7421A>T (p.Asp2474Val)
|
|
|
NM_001042492.3(NF1):c.7423A>G (p.Thr2475Ala)
|
rs1597859789
|
|
NM_001042492.3(NF1):c.7424C>T (p.Thr2475Ile)
|
rs770532573
|
|
NM_001042492.3(NF1):c.7426T>C (p.Tyr2476His)
|
rs864622745
|
|
NM_001042492.3(NF1):c.7429C>G (p.Pro2477Ala)
|
rs876658722
|
|
NM_001042492.3(NF1):c.7429C>T (p.Pro2477Ser)
|
rs876658722
|
|
NM_001042492.3(NF1):c.7442G>T (p.Gly2481Val)
|
rs786202540
|
|
NM_001042492.3(NF1):c.7446C>A (p.Asp2482Glu)
|
rs876660614
|
|
NM_001042492.3(NF1):c.7447C>T (p.Pro2483Ser)
|
rs1291550449
|
|
NM_001042492.3(NF1):c.7448C>G (p.Pro2483Arg)
|
rs2070108464
|
|
NM_001042492.3(NF1):c.7448C>T (p.Pro2483Leu)
|
rs2070108464
|
|
NM_001042492.3(NF1):c.744G>T (p.Lys248Asn)
|
|
|
NM_001042492.3(NF1):c.7450_7451delinsAT (p.Ser2484Ile)
|
|
|
NM_001042492.3(NF1):c.7454A>C (p.Tyr2485Ser)
|
|
|
NM_001042492.3(NF1):c.7456A>C (p.Arg2486=)
|
rs752162999
|
|
NM_001042492.3(NF1):c.7457+1G>C
|
rs2151574698
|
|
NM_001042492.3(NF1):c.7457+3A>G
|
rs1555536170
|
|
NM_001042492.3(NF1):c.7457+5G>A
|
rs1555536171
|
|
NM_001042492.3(NF1):c.7457+5G>C
|
|
|
NM_001042492.3(NF1):c.7458-16T>A
|
|
|
NM_001042492.3(NF1):c.7458-339G>A
|
rs2151576361
|
|
NM_001042492.3(NF1):c.7458-3C>A
|
rs1158267419
|
|
NM_001042492.3(NF1):c.7458-3C>G
|
rs1158267419
|
|
NM_001042492.3(NF1):c.7458-5T>G
|
|
|
NM_001042492.3(NF1):c.7458G>A (p.Arg2486=)
|
rs2070166426
|
|
NM_001042492.3(NF1):c.7458G>T (p.Arg2486Ser)
|
rs2070166426
|
|
NM_001042492.3(NF1):c.7459A>G (p.Thr2487Ala)
|
rs2070166547
|
|
NM_001042492.3(NF1):c.745C>G (p.Leu249Val)
|
rs2143785034
|
|
NM_001042492.3(NF1):c.7460C>T (p.Thr2487Ile)
|
rs2070166606
|
|
NM_001042492.3(NF1):c.7462C>G (p.Leu2488Val)
|
rs876660345
|
|
NM_001042492.3(NF1):c.7463T>C (p.Leu2488Pro)
|
rs2070166801
|
|
NM_001042492.3(NF1):c.7465A>G (p.Lys2489Glu)
|
rs1555536338
|
|
NM_001042492.3(NF1):c.7466A>C (p.Lys2489Thr)
|
rs864622249
|
|
NM_001042492.3(NF1):c.7466A>G (p.Lys2489Arg)
|
rs864622249
|
|
NM_001042492.3(NF1):c.746T>G (p.Leu249Arg)
|
rs1567826623
|
|
NM_001042492.3(NF1):c.7472C>T (p.Thr2491Ile)
|
rs2151576935
|
|
NM_001042492.3(NF1):c.7475A>T (p.Gln2492Leu)
|
|
|
NM_001042492.3(NF1):c.7477C>T (p.Pro2493Ser)
|
rs2070167112
|
|
NM_001042492.3(NF1):c.7478C>T (p.Pro2493Leu)
|
rs2151576963
|
|
NM_001042492.3(NF1):c.7487C>T (p.Ser2496Phe)
|
rs371773406
|
|
NM_001042492.3(NF1):c.7490C>T (p.Pro2497Leu)
|
rs1555536347
|
|
NM_001042492.3(NF1):c.7494A>C (p.Lys2498Asn)
|
rs2070167780
|
|
NM_001042492.3(NF1):c.7495_7496delinsCT (p.Gly2499Leu)
|
rs2070167904
|
|
NM_001042492.3(NF1):c.7496G>A (p.Gly2499Asp)
|
rs375176282
|
|
NM_001042492.3(NF1):c.7499C>A (p.Ser2500Tyr)
|
rs2070168165
|
|
NM_001042492.3(NF1):c.749T>C (p.Phe250Ser)
|
|
|
NM_001042492.3(NF1):c.74C>G (p.Thr25Arg)
|
rs1555604874
|
|
NM_001042492.3(NF1):c.74C>T (p.Thr25Ile)
|
rs1555604874
|
|
NM_001042492.3(NF1):c.7504G>C (p.Gly2502Arg)
|
rs1555536357
|
|
NM_001042492.3(NF1):c.7505G>T (p.Gly2502Val)
|
|
|
NM_001042492.3(NF1):c.7509C>T (p.Tyr2503=)
|
rs1555536359
|
|
NM_001042492.3(NF1):c.750T>A (p.Phe250Leu)
|
rs2143785091
|
|
NM_001042492.3(NF1):c.7510C>A (p.Leu2504Ile)
|
rs876658333
|
|
NM_001042492.3(NF1):c.7510C>T (p.Leu2504Phe)
|
rs876658333
|
|
NM_001042492.3(NF1):c.7511T>C (p.Leu2504Pro)
|
rs2151577076
|
|
NM_001042492.3(NF1):c.7513G>C (p.Ala2505Pro)
|
rs786202955
|
|
NM_001042492.3(NF1):c.7514C>G (p.Ala2505Gly)
|
rs1567625126
|
|
NM_001042492.3(NF1):c.7514C>T (p.Ala2505Val)
|
rs1567625126
|
|
NM_001042492.3(NF1):c.7517C>A (p.Ala2506Asp)
|
|
|
NM_001042492.3(NF1):c.7519A>G (p.Thr2507Ala)
|
rs1597862129
|
|
NM_001042492.3(NF1):c.7526C>G (p.Pro2509Arg)
|
rs786202146
|
|
NM_001042492.3(NF1):c.7526C>T (p.Pro2509Leu)
|
rs786202146
|
|
NM_001042492.3(NF1):c.752A>G (p.Asp251Gly)
|
rs2143785113
|
|
NM_001042492.3(NF1):c.7539G>C (p.Gln2513His)
|
rs2070170345
|
|
NM_001042492.3(NF1):c.753C>G (p.Asp251Glu)
|
rs1567826636
|
|
NM_001042492.3(NF1):c.7540A>G (p.Thr2514Ala)
|
rs1597862168
|
|
NM_001042492.3(NF1):c.7543A>C (p.Ser2515Arg)
|
|
|
NM_001042492.3(NF1):c.7543A>G (p.Ser2515Gly)
|
rs2070170553
|
|
NM_001042492.3(NF1):c.7544G>T (p.Ser2515Ile)
|
rs1597862174
|
|
NM_001042492.3(NF1):c.7546C>T (p.Pro2516Ser)
|
rs753977783
|
|
NM_001042492.3(NF1):c.7547C>A (p.Pro2516His)
|
|
|
NM_001042492.3(NF1):c.754T>G (p.Leu252Val)
|
|
|
NM_001042492.3(NF1):c.7550G>A (p.Arg2517Gln)
|
rs755260088
|
|
NM_001042492.3(NF1):c.7550G>C (p.Arg2517Pro)
|
|
|
NM_001042492.3(NF1):c.7553C>A (p.Ala2518Asp)
|
rs1060500265
|
|
NM_001042492.3(NF1):c.7566G>A (p.Met2522Ile)
|
rs2070171212
|
|
NM_001042492.3(NF1):c.7570C>G (p.Leu2524Val)
|
|
|
NM_001042492.3(NF1):c.7579G>A (p.Gly2527Arg)
|
rs2151577333
|
|
NM_001042492.3(NF1):c.757G>A (p.Val253Met)
|
rs786203607
|
|
NM_001042492.3(NF1):c.757G>T (p.Val253Leu)
|
rs786203607
|
|
NM_001042492.3(NF1):c.7580G>A (p.Gly2527Glu)
|
rs2151577339
|
|
NM_001042492.3(NF1):c.7588T>C (p.Ser2530Pro)
|
rs1567625190
|
|
NM_001042492.3(NF1):c.758T>A (p.Val253Glu)
|
rs2066156105
|
|
NM_001042492.3(NF1):c.7593G>C (p.Gln2531His)
|
rs2070172055
|
|
NM_001042492.3(NF1):c.7594G>A (p.Ala2532Thr)
|
rs1555536373
|
|
NM_001042492.3(NF1):c.7597A>T (p.Asn2533Tyr)
|
rs2151577390
|
|
NM_001042492.3(NF1):c.7608G>T (p.Lys2536Asn)
|
rs1597862283
|
|
NM_001042492.3(NF1):c.7609T>G (p.Leu2537Val)
|
|
|
NM_001042492.3(NF1):c.7615+1_7615+5dup
|
|
|
NM_001042492.3(NF1):c.7615+5G>A
|
rs1555536382
|
|
NM_001042492.3(NF1):c.7615+6T>C
|
|
|
NM_001042492.3(NF1):c.7615G>A (p.Gly2539Arg)
|
|
|
NM_001042492.3(NF1):c.7616-13C>G
|
|
|
NM_001042492.3(NF1):c.7616G>C (p.Gly2539Ala)
|
rs1597865736
|
|
NM_001042492.3(NF1):c.7618A>G (p.Thr2540Ala)
|
rs1555536632
|
|
NM_001042492.3(NF1):c.7619C>A (p.Thr2540Lys)
|
rs1555536633
|
|
NM_001042492.3(NF1):c.761A>G (p.Asp254Gly)
|
rs2066156209
|
|
NM_001042492.3(NF1):c.7623_7625del (p.Lys2542del)
|
rs2151581007
|
|
NM_001042492.3(NF1):c.7635T>A (p.Asp2545Glu)
|
rs876659530
|
|
NM_001042492.3(NF1):c.7637A>C (p.His2546Pro)
|
|
|
NM_001042492.3(NF1):c.763G>A (p.Gly255Ser)
|
rs773207833
|
|
NM_001042492.3(NF1):c.7642A>G (p.Ile2548Val)
|
rs1555536636
|
|
NM_001042492.3(NF1):c.7642A>T (p.Ile2548Leu)
|
|
|
NM_001042492.3(NF1):c.7644A>G (p.Ile2548Met)
|
rs2070273405
|
|
NM_001042492.3(NF1):c.7648G>C (p.Asp2550His)
|
rs2151581078
|
|
NM_001042492.3(NF1):c.7651A>G (p.Thr2551Ala)
|
rs2151581089
|
|
NM_001042492.3(NF1):c.7657G>C (p.Ala2553Pro)
|
rs1555536644
|
|
NM_001042492.3(NF1):c.7657G>T (p.Ala2553Ser)
|
rs1555536644
|
|
NM_001042492.3(NF1):c.7660C>T (p.Pro2554Ser)
|
|
|
NM_001042492.3(NF1):c.7663A>G (p.Lys2555Glu)
|
rs786203792
|
|
NM_001042492.3(NF1):c.7667G>T (p.Arg2556Met)
|
rs1597865787
|
|
NM_001042492.3(NF1):c.7669C>G (p.Gln2557Glu)
|
rs2151581157
|
|
NM_001042492.3(NF1):c.7670A>C (p.Gln2557Pro)
|
rs2070273995
|
|
NM_001042492.3(NF1):c.7676T>C (p.Met2559Thr)
|
rs2070274119
|
|
NM_001042492.3(NF1):c.7685G>T (p.Gly2562Val)
|
rs2070274448
|
|
NM_001042492.3(NF1):c.7687A>C (p.Ile2563Leu)
|
rs1555536648
|
|
NM_001042492.3(NF1):c.7687A>G (p.Ile2563Val)
|
rs1555536648
|
|
NM_001042492.3(NF1):c.768T>G (p.Phe256Leu)
|
rs1597659838
|
|
NM_001042492.3(NF1):c.7693A>G (p.Thr2565Ala)
|
rs786202548
|
|
NM_001042492.3(NF1):c.7694C>T (p.Thr2565Ile)
|
|
|
NM_001042492.3(NF1):c.7696C>G (p.Pro2566Ala)
|
rs2151581259
|
|
NM_001042492.3(NF1):c.7697C>T (p.Pro2566Leu)
|
rs1218492217
|
|
NM_001042492.3(NF1):c.769G>C (p.Ala257Pro)
|
rs2066156448
|
|
NM_001042492.3(NF1):c.76G>A (p.Gly26Arg)
|
rs778973022
|
|
NM_001042492.3(NF1):c.7700C>A (p.Pro2567His)
|
rs754511534
|
|
NM_001042492.3(NF1):c.7700C>G (p.Pro2567Arg)
|
rs754511534
|
|
NM_001042492.3(NF1):c.7701dup (p.Lys2568fs)
|
rs1060500295
|
|
NM_001042492.3(NF1):c.7703A>C (p.Lys2568Thr)
|
|
|
NM_001042492.3(NF1):c.7704A>C (p.Lys2568Asn)
|
|
|
NM_001042492.3(NF1):c.7705A>G (p.Met2569Val)
|
rs2070275038
|
|
NM_001042492.3(NF1):c.7706T>C (p.Met2569Thr)
|
rs2151581300
|
|
NM_001042492.3(NF1):c.7706T>G (p.Met2569Arg)
|
|
|
NM_001042492.3(NF1):c.7709G>A (p.Arg2570Lys)
|
rs2151581311
|
|
NM_001042492.3(NF1):c.770C>G (p.Ala257Gly)
|
|
|
NM_001042492.3(NF1):c.770C>T (p.Ala257Val)
|
rs2143785365
|
|
NM_001042492.3(NF1):c.7711A>C (p.Arg2571=)
|
|
|
NM_001042492.3(NF1):c.7712G>A (p.Arg2571Lys)
|
rs1597865842
|
|
NM_001042492.3(NF1):c.7712G>C (p.Arg2571Thr)
|
|
|
NM_001042492.3(NF1):c.7714G>C (p.Val2572Leu)
|
rs1555536652
|
|
NM_001042492.3(NF1):c.7717G>A (p.Ala2573Thr)
|
rs1555536654
|
|
NM_001042492.3(NF1):c.7718C>A (p.Ala2573Glu)
|
rs2070275358
|
|
NM_001042492.3(NF1):c.7724C>T (p.Thr2575Ile)
|
rs1597865850
|
|
NM_001042492.3(NF1):c.7727A>G (p.Asp2576Gly)
|
rs2151581354
|
|
NM_001042492.3(NF1):c.7729T>G (p.Tyr2577Asp)
|
|
|
NM_001042492.3(NF1):c.7735A>G (p.Met2579Val)
|
|
|
NM_001042492.3(NF1):c.7738+3G>A
|
rs771445239
|
|
NM_001042492.3(NF1):c.7738+6A>T
|
rs2070275951
|
|
NM_001042492.3(NF1):c.7739-11T>G
|
|
|
NM_001042492.3(NF1):c.7739-19_7739-11del
|
|
|
NM_001042492.3(NF1):c.7739-3C>A
|
rs747382969
|
|
NM_001042492.3(NF1):c.7739-3C>T
|
rs747382969
|
|
NM_001042492.3(NF1):c.7741A>G (p.Thr2581Ala)
|
|
|
NM_001042492.3(NF1):c.7744C>G (p.Gln2582Glu)
|
|
|
NM_001042492.3(NF1):c.7745A>G (p.Gln2582Arg)
|
rs2151582173
|
|
NM_001042492.3(NF1):c.7748G>A (p.Arg2583Lys)
|
rs2151582191
|
|
NM_001042492.3(NF1):c.7751T>G (p.Ile2584Ser)
|
rs1597866331
|
|
NM_001042492.3(NF1):c.7754C>T (p.Ser2585Phe)
|
|
|
NM_001042492.3(NF1):c.7762C>G (p.Gln2588Glu)
|
|
|
NM_001042492.3(NF1):c.7763A>G (p.Gln2588Arg)
|
|
|
NM_001042492.3(NF1):c.7763A>T (p.Gln2588Leu)
|
|
|
NM_001042492.3(NF1):c.7767G>C (p.Gln2589His)
|
rs587782168
|
|
NM_001042492.3(NF1):c.7768C>T (p.His2590Tyr)
|
rs1555536690
|
|
NM_001042492.3(NF1):c.776G>A (p.Ser259Asn)
|
rs2066156591
|
|
NM_001042492.3(NF1):c.7770C>A (p.His2590Gln)
|
rs1060503906
|
|
NM_001042492.3(NF1):c.7774C>A (p.His2592Asn)
|
rs749460130
|
|
NM_001042492.3(NF1):c.7775A>G (p.His2592Arg)
|
|
|
NM_001042492.3(NF1):c.7776T>A (p.His2592Gln)
|
rs1555536692
|
|
NM_001042492.3(NF1):c.7776T>G (p.His2592Gln)
|
|
|
NM_001042492.3(NF1):c.7781G>C (p.Arg2594Pro)
|
|
|
NM_001042492.3(NF1):c.7781G>T (p.Arg2594Leu)
|
rs774781617
|
|
NM_001042492.3(NF1):c.7783A>G (p.Lys2595Glu)
|
rs2151582291
|
|
NM_001042492.3(NF1):c.7786G>A (p.Val2596Ile)
|
|
|
NM_001042492.3(NF1):c.7789T>C (p.Ser2597Pro)
|
rs864622364
|
|
NM_001042492.3(NF1):c.778A>G (p.Thr260Ala)
|
rs1466892954
|
|
NM_001042492.3(NF1):c.7792G>A (p.Val2598Met)
|
|
|
NM_001042492.3(NF1):c.7792G>C (p.Val2598Leu)
|
|
|
NM_001042492.3(NF1):c.7792G>T (p.Val2598Leu)
|
rs2151582315
|
|
NM_001042492.3(NF1):c.779C>T (p.Thr260Ile)
|
rs1567826665
|
|
NM_001042492.3(NF1):c.77G>A (p.Gly26Glu)
|
rs2143625375
|
|
NM_001042492.3(NF1):c.7804A>G (p.Asn2602Asp)
|
rs150657839
|
|
NM_001042492.3(NF1):c.7804A>T (p.Asn2602Tyr)
|
rs150657839
|
|
NM_001042492.3(NF1):c.7805A>G (p.Asn2602Ser)
|
rs2151582358
|
|
NM_001042492.3(NF1):c.7807G>A (p.Val2603Ile)
|
rs766135206
|
|
NM_001042492.3(NF1):c.7807G>C (p.Val2603Leu)
|
rs766135206
|
|
NM_001042492.3(NF1):c.7810C>T (p.Leu2604Phe)
|
rs776602307
|
|
NM_001042492.3(NF1):c.7816G>A (p.Asp2606Asn)
|
rs2151582401
|
|
NM_001042492.3(NF1):c.7818T>A (p.Asp2606Glu)
|
|
|
NM_001042492.3(NF1):c.781A>C (p.Lys261Gln)
|
rs2066156804
|
|
NM_001042492.3(NF1):c.7820A>C (p.Glu2607Ala)
|
rs1597866483
|
|
NM_001042492.3(NF1):c.7820AAG[1] (p.Glu2608del)
|
rs2070288954
|
|
NM_001042492.3(NF1):c.7822G>A (p.Glu2608Lys)
|
rs1597866487
|
|
NM_001042492.3(NF1):c.7823A>G (p.Glu2608Gly)
|
rs2070289110
|
|
NM_001042492.3(NF1):c.7823A>T (p.Glu2608Val)
|
|
|
NM_001042492.3(NF1):c.7825G>C (p.Val2609Leu)
|
rs786203848
|
|
NM_001042492.3(NF1):c.7826T>C (p.Val2609Ala)
|
|
|
NM_001042492.3(NF1):c.7828C>T (p.Leu2610Phe)
|
|
|
NM_001042492.3(NF1):c.7829T>C (p.Leu2610Pro)
|
|
|
NM_001042492.3(NF1):c.7831A>G (p.Thr2611Ala)
|
rs759424718
|
|
NM_001042492.3(NF1):c.7837C>A (p.Pro2613Thr)
|
rs138839077
|
|
NM_001042492.3(NF1):c.7838C>A (p.Pro2613Gln)
|
rs750972729
|
|
NM_001042492.3(NF1):c.7840A>G (p.Lys2614Glu)
|
|
|
NM_001042492.3(NF1):c.7842G>T (p.Lys2614Asn)
|
rs1555536710
|
|
NM_001042492.3(NF1):c.7844T>A (p.Ile2615Asn)
|
rs1555536711
|
|
NM_001042492.3(NF1):c.7844T>G (p.Ile2615Ser)
|
|
|
NM_001042492.3(NF1):c.7845_7847del (p.Ile2615_Gln2616delinsMet)
|
rs2070290251
|
|
NM_001042492.3(NF1):c.7846C>G (p.Gln2616Glu)
|
rs1555536713
|
|
NM_001042492.3(NF1):c.7847A>G (p.Gln2616Arg)
|
rs876659308
|
|
NM_001042492.3(NF1):c.784C>T (p.Arg262Cys)
|
rs754343223
|
|
NM_001042492.3(NF1):c.7855C>T (p.Leu2619Phe)
|
rs781437770
|
|
NM_001042492.3(NF1):c.7856T>G (p.Leu2619Arg)
|
rs916881278
|
|
NM_001042492.3(NF1):c.7859T>G (p.Leu2620Arg)
|
rs2151582531
|
|
NM_001042492.3(NF1):c.785G>A (p.Arg262His)
|
rs1555608957
|
|
NM_001042492.3(NF1):c.785G>C (p.Arg262Pro)
|
rs1555608957
|
|
NM_001042492.3(NF1):c.7864G>A (p.Val2622Ile)
|
rs1471144465
|
|
NM_001042492.3(NF1):c.7864G>C (p.Val2622Leu)
|
rs1471144465
|
|
NM_001042492.3(NF1):c.7867C>A (p.Leu2623Ile)
|
|
|
NM_001042492.3(NF1):c.7867C>G (p.Leu2623Val)
|
rs1555536721
|
|
NM_001042492.3(NF1):c.7869+4A>G
|
rs1567627046
|
|
NM_001042492.3(NF1):c.7869+5G>A
|
rs1555536725
|
|
NM_001042492.3(NF1):c.7869A>G (p.Leu2623=)
|
rs876659536
|
|
NM_001042492.3(NF1):c.7870-13dup
|
rs369360556
|
|
NM_001042492.3(NF1):c.7870-19C>G
|
|
|
NM_001042492.3(NF1):c.7870-20A>G
|
rs574898272
|
|
NM_001042492.3(NF1):c.7870-3C>T
|
rs1597866792
|
|
NM_001042492.3(NF1):c.7870-6T>A
|
rs2151583143
|
|
NM_001042492.3(NF1):c.7870G>A (p.Ala2624Thr)
|
rs1597866802
|
|
NM_001042492.3(NF1):c.7870G>C (p.Ala2624Pro)
|
rs1597866802
|
|
NM_001042492.3(NF1):c.7873A>G (p.Thr2625Ala)
|
rs2070296220
|
|
NM_001042492.3(NF1):c.7874C>T (p.Thr2625Ile)
|
rs2151583169
|
|
NM_001042492.3(NF1):c.7876C>A (p.Leu2626Met)
|
rs1555536748
|
|
NM_001042492.3(NF1):c.7888A>G (p.Thr2630Ala)
|
rs1567627155
|
|
NM_001042492.3(NF1):c.7889C>T (p.Thr2630Ile)
|
rs1283946778
|
|
NM_001042492.3(NF1):c.7896T>A (p.Asp2632Glu)
|
rs1277560744
|
|
NM_001042492.3(NF1):c.7902T>A (p.Phe2634Leu)
|
rs2151583253
|
|
NM_001042492.3(NF1):c.7903G>A (p.Asp2635Asn)
|
rs2151583254
|
|
NM_001042492.3(NF1):c.7904A>T (p.Asp2635Val)
|
rs2070297198
|
|
NM_001042492.3(NF1):c.7905T>A (p.Asp2635Glu)
|
|
|
NM_001042492.3(NF1):c.7906C>G (p.Gln2636Glu)
|
|
|
NM_001042492.3(NF1):c.7907A>C (p.Gln2636Pro)
|
rs1597866867
|
|
NM_001042492.3(NF1):c.7910G>T (p.Arg2637Leu)
|
rs560262404
|
|
NM_001042492.3(NF1):c.7912A>C (p.Ile2638Leu)
|
|
|
NM_001042492.3(NF1):c.7912A>G (p.Ile2638Val)
|
rs2151583282
|
|
NM_001042492.3(NF1):c.7914T>G (p.Ile2638Met)
|
rs1597866892
|
|
NM_001042492.3(NF1):c.7915C>A (p.Leu2639Ile)
|
rs1057518362
|
|
NM_001042492.3(NF1):c.7915C>G (p.Leu2639Val)
|
rs1057518362
|
|
NM_001042492.3(NF1):c.7919A>G (p.Tyr2640Cys)
|
rs1597866901
|
|
NM_001042492.3(NF1):c.7919A>T (p.Tyr2640Phe)
|
rs1597866901
|
|
NM_001042492.3(NF1):c.791C>T (p.Ala264Val)
|
rs2143785708
|
|
NM_001042492.3(NF1):c.7921G>A (p.Glu2641Lys)
|
rs2151583310
|
|
NM_001042492.3(NF1):c.7922A>C (p.Glu2641Ala)
|
rs876658205
|
|
NM_001042492.3(NF1):c.7922A>G (p.Glu2641Gly)
|
|
|
NM_001042492.3(NF1):c.7922A>T (p.Glu2641Val)
|
rs876658205
|
|
NM_001042492.3(NF1):c.7930G>C (p.Ala2644Pro)
|
rs2070298197
|
|
NM_001042492.3(NF1):c.7933G>A (p.Glu2645Lys)
|
|
|
NM_001042492.3(NF1):c.7934A>G (p.Glu2645Gly)
|
|
|
NM_001042492.3(NF1):c.7937C>T (p.Ala2646Val)
|
|
|
NM_001042492.3(NF1):c.7943T>C (p.Val2648Ala)
|
|
|
NM_001042492.3(NF1):c.7945G>A (p.Val2649Met)
|
rs1555536761
|
|
NM_001042492.3(NF1):c.7945G>C (p.Val2649Leu)
|
rs1555536761
|
|
NM_001042492.3(NF1):c.7946T>G (p.Val2649Gly)
|
|
|
NM_001042492.3(NF1):c.7948T>C (p.Phe2650Leu)
|
|
|
NM_001042492.3(NF1):c.7948T>G (p.Phe2650Val)
|
|
|
NM_001042492.3(NF1):c.7949T>G (p.Phe2650Cys)
|
rs754443238
|
|
NM_001042492.3(NF1):c.794C>T (p.Ala265Val)
|
|
|
NM_001042492.3(NF1):c.7954A>G (p.Lys2652Glu)
|
|
|
NM_001042492.3(NF1):c.7955A>G (p.Lys2652Arg)
|
rs1597866986
|
|
NM_001042492.3(NF1):c.7962T>G (p.Phe2654Leu)
|
rs1597867008
|
|
NM_001042492.3(NF1):c.7963C>A (p.Pro2655Thr)
|
rs587781791
|
|
NM_001042492.3(NF1):c.7963C>G (p.Pro2655Ala)
|
rs587781791
|
|
NM_001042492.3(NF1):c.7963C>T (p.Pro2655Ser)
|
rs587781791
|
|
NM_001042492.3(NF1):c.7964C>T (p.Pro2655Leu)
|
rs2070299592
|
|
NM_001042492.3(NF1):c.7966G>A (p.Val2656Ile)
|
|
|
NM_001042492.3(NF1):c.7969G>C (p.Val2657Leu)
|
rs1597867034
|
|
NM_001042492.3(NF1):c.796G>A (p.Val266Ile)
|
rs2066157267
|
|
NM_001042492.3(NF1):c.7970+3A>G
|
rs1567627282
|
|
NM_001042492.3(NF1):c.7970+3_7970+4del
|
rs2151583488
|
|
NM_001042492.3(NF1):c.7970+4_7970+7del
|
rs1064794279
|
|
NM_001042492.3(NF1):c.7970+5G>A
|
rs1567627286
|
|
NM_001042492.3(NF1):c.7970+6T>G
|
rs1555536775
|
|
NM_001042492.3(NF1):c.7971-1G>T
|
rs1417908560
|
|
NM_001042492.3(NF1):c.7971-3T>G
|
rs2151584771
|
|
NM_001042492.3(NF1):c.7972C>A (p.His2658Asn)
|
rs1555536868
|
|
NM_001042492.3(NF1):c.7975A>C (p.Asn2659His)
|
rs1177245412
|
|
NM_001042492.3(NF1):c.7976A>C (p.Asn2659Thr)
|
rs1597868051
|
|
NM_001042492.3(NF1):c.7981T>G (p.Leu2661Val)
|
|
|
NM_001042492.3(NF1):c.7987T>A (p.Ser2663Thr)
|
rs2151584821
|
|
NM_001042492.3(NF1):c.7988C>A (p.Ser2663Tyr)
|
|
|
NM_001042492.3(NF1):c.7988C>G (p.Ser2663Cys)
|
rs786202579
|
|
NM_001042492.3(NF1):c.7988C>T (p.Ser2663Phe)
|
rs786202579
|
|
NM_001042492.3(NF1):c.7990A>G (p.Lys2664Glu)
|
|
|
NM_001042492.3(NF1):c.7992G>C (p.Lys2664Asn)
|
rs1060500377
|
|
NM_001042492.3(NF1):c.7995C>G (p.Ile2665Met)
|
rs1037082087
|
|
NM_001042492.3(NF1):c.7997A>G (p.Asn2666Ser)
|
|
|
NM_001042492.3(NF1):c.7999A>G (p.Thr2667Ala)
|
rs995645937
|
|
NM_001042492.3(NF1):c.7999A>T (p.Thr2667Ser)
|
|
|
NM_001042492.3(NF1):c.799_802del (p.Trp267fs)
|
rs1567826683
|
|
NM_001042492.3(NF1):c.7G>A (p.Ala3Thr)
|
rs1598173770
|
|
NM_001042492.3(NF1):c.8000C>G (p.Thr2667Ser)
|
rs786203669
|
|
NM_001042492.3(NF1):c.8000C>T (p.Thr2667Ile)
|
rs786203669
|
|
NM_001042492.3(NF1):c.8002C>A (p.Leu2668Met)
|
rs1060503905
|
|
NM_001042492.3(NF1):c.8002C>G (p.Leu2668Val)
|
rs1060503905
|
|
NM_001042492.3(NF1):c.8008T>C (p.Ser2670Pro)
|
rs1597868102
|
|
NM_001042492.3(NF1):c.8009C>T (p.Ser2670Leu)
|
rs1131691074
|
|
NM_001042492.3(NF1):c.8011T>A (p.Leu2671Met)
|
rs2070326229
|
|
NM_001042492.3(NF1):c.8020G>A (p.Asp2674Asn)
|
rs1597868123
|
|
NM_001042492.3(NF1):c.8026A>G (p.Asn2676Asp)
|
rs1555536902
|
|
NM_001042492.3(NF1):c.8036A>C (p.Asn2679Thr)
|
|
|
NM_001042492.3(NF1):c.8039C>G (p.Pro2680Arg)
|
rs2151584968
|
|
NM_001042492.3(NF1):c.8039C>T (p.Pro2680Leu)
|
|
|
NM_001042492.3(NF1):c.803C>A (p.Pro268Gln)
|
rs1441060549
|
|
NM_001042492.3(NF1):c.803C>G (p.Pro268Arg)
|
|
|
NM_001042492.3(NF1):c.803C>T (p.Pro268Leu)
|
rs1441060549
|
|
NM_001042492.3(NF1):c.8046T>A (p.His2682Gln)
|
rs1184642602
|
|
NM_001042492.3(NF1):c.8048G>A (p.Gly2683Glu)
|
rs2070327151
|
|
NM_001042492.3(NF1):c.8048G>C (p.Gly2683Ala)
|
|
|
NM_001042492.3(NF1):c.8050A>C (p.Ile2684Leu)
|
rs1555536913
|
|
NM_001042492.3(NF1):c.8059A>T (p.Ser2687Cys)
|
rs2070327470
|
|
NM_001042492.3(NF1):c.8060G>T (p.Ser2687Ile)
|
rs1555536916
|
|
NM_001042492.3(NF1):c.8062G>A (p.Val2688Met)
|
|
|
NM_001042492.3(NF1):c.8062G>T (p.Val2688Leu)
|
rs1567627780
|
|
NM_001042492.3(NF1):c.8065G>A (p.Val2689Met)
|
rs761214867
|
|
NM_001042492.3(NF1):c.8072A>G (p.His2691Arg)
|
rs1597868213
|
|
NM_001042492.3(NF1):c.8080T>A (p.Ser2694Thr)
|
rs876658554
|
|
NM_001042492.3(NF1):c.8081C>A (p.Ser2694Tyr)
|
rs1597868223
|
|
NM_001042492.3(NF1):c.8083C>T (p.Pro2695Ser)
|
rs772707560
|
|
NM_001042492.3(NF1):c.8084C>T (p.Pro2695Leu)
|
rs2070328290
|
|
NM_001042492.3(NF1):c.8086C>A (p.Pro2696Thr)
|
rs764508546
|
|
NM_001042492.3(NF1):c.8086C>T (p.Pro2696Ser)
|
|
|
NM_001042492.3(NF1):c.8090A>C (p.Gln2697Pro)
|
rs2151585121
|
|
NM_001042492.3(NF1):c.8091A>C (p.Gln2697His)
|
|
|
NM_001042492.3(NF1):c.809A>G (p.Gln270Arg)
|
rs1597659939
|
|
NM_001042492.3(NF1):c.809A>T (p.Gln270Leu)
|
|
|
NM_001042492.3(NF1):c.8107C>A (p.Leu2703Met)
|
rs955074155
|
|
NM_001042492.3(NF1):c.8108T>C (p.Leu2703Pro)
|
|
|
NM_001042492.3(NF1):c.810A>G (p.Gln270=)
|
rs2066157647
|
|
NM_001042492.3(NF1):c.8111A>C (p.Gln2704Pro)
|
rs2151585162
|
|
NM_001042492.3(NF1):c.8113+12T>C
|
|
|
NM_001042492.3(NF1):c.8113+6T>G
|
|
|
NM_001042492.3(NF1):c.8113A>G (p.Ser2705Gly)
|
rs1597868305
|
|
NM_001042492.3(NF1):c.8124T>A (p.Phe2708Leu)
|
rs2151585975
|
|
NM_001042492.3(NF1):c.8126A>G (p.Asn2709Ser)
|
rs2070339296
|
|
NM_001042492.3(NF1):c.8128G>A (p.Gly2710Ser)
|
|
|
NM_001042492.3(NF1):c.8129G>T (p.Gly2710Val)
|
rs1597868740
|
|
NM_001042492.3(NF1):c.812T>C (p.Ile271Thr)
|
rs1597659948
|
|
NM_001042492.3(NF1):c.8137C>T (p.Arg2713Trp)
|
rs757391670
|
|
NM_001042492.3(NF1):c.8138G>A (p.Arg2713Gln)
|
rs1170836879
|
|
NM_001042492.3(NF1):c.8139dup (p.Phe2714fs)
|
rs1567628013
|
|
NM_001042492.3(NF1):c.8141T>A (p.Phe2714Tyr)
|
rs2151586035
|
|
NM_001042492.3(NF1):c.8143G>A (p.Ala2715Thr)
|
rs2070340047
|
|
NM_001042492.3(NF1):c.8144C>T (p.Ala2715Val)
|
rs1597868802
|
|
NM_001042492.3(NF1):c.8148A>T (p.Gly2716=)
|
rs2151586062
|
|
NM_001042492.3(NF1):c.814A>G (p.Ile272Val)
|
rs1555608971
|
|
NM_001042492.3(NF1):c.8152T>C (p.Phe2718Leu)
|
|
|
NM_001042492.3(NF1):c.8156C>T (p.Ser2719Leu)
|
|
|
NM_001042492.3(NF1):c.8158A>G (p.Lys2720Glu)
|
rs1597868832
|
|
NM_001042492.3(NF1):c.8160+2T>G
|
rs1135402909
|
|
NM_001042492.3(NF1):c.8160+4A>G
|
rs1555537033
|
|
NM_001042492.3(NF1):c.8160G>A (p.Lys2720=)
|
rs1555537030
|
|
NM_001042492.3(NF1):c.8160G>C (p.Lys2720Asn)
|
rs1555537030
|
|
NM_001042492.3(NF1):c.8161-3C>T
|
rs786203684
|
|
NM_001042492.3(NF1):c.8161C>G (p.Gln2721Glu)
|
rs2070372971
|
|
NM_001042492.3(NF1):c.8162A>G (p.Gln2721Arg)
|
rs876657933
|
|
NM_001042492.3(NF1):c.8176G>A (p.Asp2726Asn)
|
rs1135402910
|
|
NM_001042492.3(NF1):c.8177A>G (p.Asp2726Gly)
|
|
|
NM_001042492.3(NF1):c.8179T>C (p.Tyr2727His)
|
rs876660178
|
|
NM_001042492.3(NF1):c.8183C>T (p.Ala2728Val)
|
rs760973918
|
|
NM_001042492.3(NF1):c.8188C>T (p.Leu2730Phe)
|
rs2151587710
|
|
NM_001042492.3(NF1):c.8198A>C (p.Lys2733Thr)
|
rs2070373730
|
|
NM_001042492.3(NF1):c.8203C>G (p.Leu2735Val)
|
|
|
NM_001042492.3(NF1):c.8207A>G (p.Asp2736Gly)
|
|
|
NM_001042492.3(NF1):c.8209G>A (p.Ala2737Thr)
|
rs2151587791
|
|
NM_001042492.3(NF1):c.8210C>G (p.Ala2737Gly)
|
|
|
NM_001042492.3(NF1):c.8215A>G (p.Ile2739Val)
|
|
|
NM_001042492.3(NF1):c.8217_8218delinsAA (p.Asp2740Asn)
|
|
|
NM_001042492.3(NF1):c.8218G>A (p.Asp2740Asn)
|
rs1555537228
|
|
NM_001042492.3(NF1):c.821T>C (p.Leu274Pro)
|
rs2066157974
|
|
NM_001042492.3(NF1):c.8220C>G (p.Asp2740Glu)
|
rs2070374242
|
|
NM_001042492.3(NF1):c.8222C>A (p.Thr2741Lys)
|
rs144178015
|
|
NM_001042492.3(NF1):c.8222C>T (p.Thr2741Met)
|
rs144178015
|
|
NM_001042492.3(NF1):c.8227C>G (p.Leu2743Val)
|
rs1597870180
|
|
NM_001042492.3(NF1):c.8231C>G (p.Pro2744Arg)
|
|
|
NM_001042492.3(NF1):c.8239G>A (p.Asp2747Asn)
|
rs745472917
|
|
NM_001042492.3(NF1):c.823A>C (p.Ile275Leu)
|
rs786202464
|
|
NM_001042492.3(NF1):c.823A>T (p.Ile275Phe)
|
rs786202464
|
|
NM_001042492.3(NF1):c.8240A>G (p.Asp2747Gly)
|
rs2151587891
|
|
NM_001042492.3(NF1):c.8243A>C (p.Glu2748Ala)
|
|
|
NM_001042492.3(NF1):c.8244A>T (p.Glu2748Asp)
|
rs878853919
|
|
NM_001042492.3(NF1):c.8248A>G (p.Thr2750Ala)
|
|
|
NM_001042492.3(NF1):c.8249C>G (p.Thr2750Ser)
|
rs2070374835
|
|
NM_001042492.3(NF1):c.8249C>T (p.Thr2750Ile)
|
|
|
NM_001042492.3(NF1):c.8252G>A (p.Ser2751Asn)
|
rs2151587925
|
|
NM_001042492.3(NF1):c.8252G>T (p.Ser2751Ile)
|
rs2151587925
|
|
NM_001042492.3(NF1):c.8259A>C (p.Glu2753Asp)
|
rs2070374976
|
|
NM_001042492.3(NF1):c.825C>G (p.Ile275Met)
|
|
|
NM_001042492.3(NF1):c.8261C>T (p.Ser2754Phe)
|
rs2151587952
|
|
NM_001042492.3(NF1):c.8263C>G (p.Leu2755Val)
|
|
|
NM_001042492.3(NF1):c.8263C>T (p.Leu2755Phe)
|
|
|
NM_001042492.3(NF1):c.8267T>A (p.Leu2756Gln)
|
rs1555537241
|
|
NM_001042492.3(NF1):c.8267T>G (p.Leu2756Arg)
|
rs1555537241
|
|
NM_001042492.3(NF1):c.8269_8293dup (p.Ala2765fs)
|
rs2151587957
|
|
NM_001042492.3(NF1):c.8270_8294dup (p.Leu2766fs)
|
rs1597870232
|
|
NM_001042492.3(NF1):c.8273C>G (p.Pro2758Arg)
|
rs2151588007
|
|
NM_001042492.3(NF1):c.8276C>T (p.Thr2759Ile)
|
|
|
NM_001042492.3(NF1):c.8278T>G (p.Ser2760Ala)
|
rs2151588025
|
|
NM_001042492.3(NF1):c.827T>C (p.Leu276Ser)
|
|
|
NM_001042492.3(NF1):c.8281C>T (p.Pro2761Ser)
|
rs2151588032
|
|
NM_001042492.3(NF1):c.8287C>A (p.Pro2763Thr)
|
rs2070375557
|
|
NM_001042492.3(NF1):c.8288C>A (p.Pro2763His)
|
rs878853920
|
|
NM_001042492.3(NF1):c.8290C>T (p.Pro2764Ser)
|
|
|
NM_001042492.3(NF1):c.8293G>C (p.Ala2765Pro)
|
|
|
NM_001042492.3(NF1):c.829T>C (p.Cys277Arg)
|
|
|
NM_001042492.3(NF1):c.8300A>G (p.Gln2767Arg)
|
rs2151588076
|
|
NM_001042492.3(NF1):c.8301_8322dup (p.Asn2775delinsGluProAlaTer)
|
rs1597870268
|
|
NM_001042492.3(NF1):c.8307G>C (p.Gln2769His)
|
|
|
NM_001042492.3(NF1):c.830G>A (p.Cys277Tyr)
|
rs2066158274
|
|
NM_001042492.3(NF1):c.8312G>C (p.Ser2771Thr)
|
rs2070376310
|
|
NM_001042492.3(NF1):c.8314A>G (p.Ile2772Val)
|
rs762336662
|
|
NM_001042492.3(NF1):c.8318C>T (p.Thr2773Ile)
|
rs1597870290
|
|
NM_001042492.3(NF1):c.8321C>T (p.Ala2774Val)
|
|
|
NM_001042492.3(NF1):c.8323A>T (p.Asn2775Tyr)
|
rs1555537252
|
|
NM_001042492.3(NF1):c.8324A>C (p.Asn2775Thr)
|
rs772090874
|
|
NM_001042492.3(NF1):c.8336C>G (p.Ser2779Cys)
|
|
|
NM_001042492.3(NF1):c.8340T>G (p.Asn2780Lys)
|
|
|
NM_001042492.3(NF1):c.8348C>T (p.Thr2783Ile)
|
|
|
NM_001042492.3(NF1):c.8350_8351del (p.Ser2784fs)
|
|
|
NM_001042492.3(NF1):c.8357C>T (p.Ala2786Val)
|
rs2070377037
|
|
NM_001042492.3(NF1):c.835G>C (p.Glu279Gln)
|
|
|
NM_001042492.3(NF1):c.8362T>G (p.Ser2788Ala)
|
rs374004608
|
|
NM_001042492.3(NF1):c.8363C>T (p.Ser2788Phe)
|
rs1567628713
|
|
NM_001042492.3(NF1):c.8366A>G (p.Gln2789Arg)
|
rs1454723879
|
|
NM_001042492.3(NF1):c.8366A>T (p.Gln2789Leu)
|
rs1454723879
|
|
NM_001042492.3(NF1):c.8369A>T (p.His2790Leu)
|
|
|
NM_001042492.3(NF1):c.8372C>T (p.Ser2791Phe)
|
rs1597870350
|
|
NM_001042492.3(NF1):c.8374C>T (p.Pro2792Ser)
|
rs2070377546
|
|
NM_001042492.3(NF1):c.8375C>T (p.Pro2792Leu)
|
|
|
NM_001042492.3(NF1):c.8376A>C (p.Pro2792=)
|
rs1028961967
|
|
NM_001042492.3(NF1):c.8377+6T>C
|
|
|
NM_001042492.3(NF1):c.8378-5214A>G
|
|
|
NM_001042492.3(NF1):c.8380A>G (p.Ile2794Val)
|
rs2151601231
|
|
NM_001042492.3(NF1):c.8381T>C (p.Ile2794Thr)
|
rs2151601235
|
|
NM_001042492.3(NF1):c.8381T>G (p.Ile2794Ser)
|
|
|
NM_001042492.3(NF1):c.8383G>A (p.Asp2795Asn)
|
rs1475978079
|
|
NM_001042492.3(NF1):c.8383G>C (p.Asp2795His)
|
rs1475978079
|
|
NM_001042492.3(NF1):c.8389_8391del (p.Glu2797del)
|
rs1555538511
|
|
NM_001042492.3(NF1):c.8392A>T (p.Asn2798Tyr)
|
rs1555538514
|
|
NM_001042492.3(NF1):c.8393A>G (p.Asn2798Ser)
|
rs1555538515
|
|
NM_001042492.3(NF1):c.8394C>G (p.Asn2798Lys)
|
rs376136174
|
|
NM_001042492.3(NF1):c.8395G>C (p.Val2799Leu)
|
rs377393842
|
|
NM_001042492.3(NF1):c.8395G>T (p.Val2799Phe)
|
rs377393842
|
|
NM_001042492.3(NF1):c.8396T>C (p.Val2799Ala)
|
rs2070695501
|
|
NM_001042492.3(NF1):c.8398G>A (p.Glu2800Lys)
|
rs1597882991
|
|
NM_001042492.3(NF1):c.8399A>C (p.Glu2800Ala)
|
rs753479281
|
|
NM_001042492.3(NF1):c.8404T>C (p.Ser2802Pro)
|
rs1597883017
|
|
NM_001042492.3(NF1):c.8405C>A (p.Ser2802Tyr)
|
rs754638282
|
|
NM_001042492.3(NF1):c.8407C>A (p.Pro2803Thr)
|
rs779180729
|
|
NM_001042492.3(NF1):c.8407C>G (p.Pro2803Ala)
|
rs779180729
|
|
NM_001042492.3(NF1):c.8407C>T (p.Pro2803Ser)
|
rs779180729
|
|
NM_001042492.3(NF1):c.8408C>T (p.Pro2803Leu)
|
rs2151601322
|
|
NM_001042492.3(NF1):c.8420A>G (p.His2807Arg)
|
rs2070695954
|
|
NM_001042492.3(NF1):c.8420A>T (p.His2807Leu)
|
rs2070695954
|
|
NM_001042492.3(NF1):c.8421C>A (p.His2807Gln)
|
rs1326795798
|
|
NM_001042492.3(NF1):c.8422T>C (p.Cys2808Arg)
|
rs1597883056
|
|
NM_001042492.3(NF1):c.8422_8427del (p.Cys2808_Asn2809del)
|
rs2070696010
|
|
NM_001042492.3(NF1):c.8428A>G (p.Ser2810Gly)
|
rs1597883071
|
|
NM_001042492.3(NF1):c.8429G>A (p.Ser2810Asn)
|
|
|
NM_001042492.3(NF1):c.8434C>T (p.Arg2812Ter)
|
|
|
NM_001042492.3(NF1):c.8437A>T (p.Thr2813Ser)
|
rs1597883075
|
|
NM_001042492.3(NF1):c.8438C>G (p.Thr2813Ser)
|
rs2070696371
|
|
NM_001042492.3(NF1):c.8440C>T (p.Arg2814Cys)
|
rs876658139
|
|
NM_001042492.3(NF1):c.8443C>T (p.His2815Tyr)
|
rs2070696484
|
|
NM_001042492.3(NF1):c.8445C>A (p.His2815Gln)
|
rs1597883082
|
|
NM_001042492.3(NF1):c.8448A>G (p.Gly2816=)
|
rs2070696565
|
|
NM_001042492.3(NF1):c.8450C>T (p.Ser2817Phe)
|
rs1048863798
|
|
NM_001042492.3(NF1):c.8452G>A (p.Ala2818Thr)
|
rs771006452
|
|
NM_001042492.3(NF1):c.8458C>G (p.Gln2820Glu)
|
rs2151601501
|
|
NM_001042492.3(NF1):c.8461G>A (p.Val2821Met)
|
rs1567634549
|
|
NM_001042492.3(NF1):c.8465A>G (p.Gln2822Arg)
|
|
|
NM_001042492.3(NF1):c.8465A>T (p.Gln2822Leu)
|
|
|
NM_001042492.3(NF1):c.8469G>T (p.Lys2823Asn)
|
rs1203883572
|
|
NM_001042492.3(NF1):c.8471A>C (p.Gln2824Pro)
|
|
|
NM_001042492.3(NF1):c.8471A>G (p.Gln2824Arg)
|
|
|
NM_001042492.3(NF1):c.8477G>C (p.Ser2826Thr)
|
rs1057523477
|
|
NM_001042492.3(NF1):c.8477G>T (p.Ser2826Ile)
|
|
|
NM_001042492.3(NF1):c.8479G>A (p.Ala2827Thr)
|
rs199878086
|
|
NM_001042492.3(NF1):c.847G>A (p.Asp283Asn)
|
rs200572531
|
|
NM_001042492.3(NF1):c.847G>C (p.Asp283His)
|
|
|
NM_001042492.3(NF1):c.8482G>A (p.Gly2828Ser)
|
rs2070697456
|
|
NM_001042492.3(NF1):c.8485A>G (p.Ser2829Gly)
|
|
|
NM_001042492.3(NF1):c.8486G>A (p.Ser2829Asn)
|
|
|
NM_001042492.3(NF1):c.8489_8493del (p.Phe2830fs)
|
|
|
NM_001042492.3(NF1):c.848A>G (p.Asp283Gly)
|
rs878853921
|
|
NM_001042492.3(NF1):c.8490C>G (p.Phe2830Leu)
|
rs760550772
|
|
NM_001042492.3(NF1):c.8494C>A (p.Arg2832Ser)
|
|
|
NM_001042492.3(NF1):c.8495G>T (p.Arg2832Leu)
|
|
|
NM_001042492.3(NF1):c.8497A>C (p.Asn2833His)
|
rs786202863
|
|
NM_001042492.3(NF1):c.8498A>G (p.Asn2833Ser)
|
rs1567634576
|
|
NM_001042492.3(NF1):c.8498dup (p.Asn2833fs)
|
|
|
NM_001042492.3(NF1):c.8499T>G (p.Asn2833Lys)
|
rs142636150
|
|
NM_001042492.3(NF1):c.8500A>C (p.Ser2834Arg)
|
|
|
NM_001042492.3(NF1):c.8501G>A (p.Ser2834Asn)
|
|
|
NM_001042492.3(NF1):c.8501G>T (p.Ser2834Ile)
|
rs2151601621
|
|
NM_001042492.3(NF1):c.8502C>G (p.Ser2834Arg)
|
|
|
NM_001042492.3(NF1):c.8503A>G (p.Ile2835Val)
|
rs2151601629
|
|
NM_001042492.3(NF1):c.8507AGA[1] (p.Lys2837del)
|
rs1555538565
|
|
NM_001042492.3(NF1):c.8509A>C (p.Lys2837Gln)
|
rs2070698110
|
|
NM_001042492.3(NF1):c.8511G>T (p.Lys2837Asn)
|
|
|
NM_001042492.3(NF1):c.8514C>G (p.Ile2838Met)
|
rs1567634589
|
|
NM_001042492.3(NF1):c.8516T>C (p.Val2839Ala)
|
rs2151601671
|
|
NM_001042492.3(NF1):c.851T>C (p.Ile284Thr)
|
rs2066158910
|
|
NM_001042492.3(NF1):c.852A>G (p.Ile284Met)
|
rs1567826762
|
|
NM_001042492.3(NF1):c.854C>T (p.Ser285Phe)
|
rs2066159067
|
|
NM_001042492.3(NF1):c.862G>C (p.Val288Leu)
|
|
|
NM_001042492.3(NF1):c.865G>A (p.Val289Ile)
|
rs1326607708
|
|
NM_001042492.3(NF1):c.866T>C (p.Val289Ala)
|
rs749251299
|
|
NM_001042492.3(NF1):c.868G>A (p.Asp290Asn)
|
rs1597660081
|
|
NM_001042492.3(NF1):c.86A>G (p.Asn29Ser)
|
|
|
NM_001042492.3(NF1):c.871G>A (p.Glu291Lys)
|
rs2143786875
|
|
NM_001042492.3(NF1):c.872A>C (p.Glu291Ala)
|
rs876660171
|
|
NM_001042492.3(NF1):c.875A>C (p.Asn292Thr)
|
rs2143786939
|
|
NM_001042492.3(NF1):c.877A>G (p.Asn293Asp)
|
rs2143786964
|
|
NM_001042492.3(NF1):c.87C>A (p.Asn29Lys)
|
|
|
NM_001042492.3(NF1):c.880A>G (p.Met294Val)
|
rs1597660112
|
|
NM_001042492.3(NF1):c.884A>G (p.Asn295Ser)
|
rs1555608994
|
|
NM_001042492.3(NF1):c.885T>A (p.Asn295Lys)
|
rs864622300
|
|
NM_001042492.3(NF1):c.886A>G (p.Lys296Glu)
|
|
|
NM_001042492.3(NF1):c.886A>T (p.Lys296Ter)
|
rs1135402798
|
|
NM_001042492.3(NF1):c.888+6G>A
|
rs1555609000
|
|
NM_001042492.3(NF1):c.888+789A>G
|
rs1597660974
|
|
NM_001042492.3(NF1):c.888G>A (p.Lys296=)
|
rs1597660134
|
|
NM_001042492.3(NF1):c.889-11_889-6delinsAAATT
|
rs2143871690
|
|
NM_001042492.3(NF1):c.889-18T>G
|
|
|
NM_001042492.3(NF1):c.889-2A>G
|
rs878853922
|
|
NM_001042492.3(NF1):c.889-6C>G
|
|
|
NM_001042492.3(NF1):c.889-8T>G
|
rs1452485831
|
|
NM_001042492.3(NF1):c.889-9A>G
|
|
|
NM_001042492.3(NF1):c.889A>C (p.Lys297Gln)
|
rs786202384
|
|
NM_001042492.3(NF1):c.88A>C (p.Thr30Pro)
|
rs1555604881
|
|
NM_001042492.3(NF1):c.88A>G (p.Thr30Ala)
|
|
|
NM_001042492.3(NF1):c.893T>C (p.Leu298Ser)
|
|
|
NM_001042492.3(NF1):c.894A>C (p.Leu298Phe)
|
|
|
NM_001042492.3(NF1):c.894A>T (p.Leu298Phe)
|
|
|
NM_001042492.3(NF1):c.899T>C (p.Leu300Pro)
|
rs2066505649
|
|
NM_001042492.3(NF1):c.8C>G (p.Ala3Gly)
|
rs1911550821
|
|
NM_001042492.3(NF1):c.8C>T (p.Ala3Val)
|
rs1911550821
|
|
NM_001042492.3(NF1):c.901G>A (p.Asp301Asn)
|
rs2066505718
|
|
NM_001042492.3(NF1):c.901G>C (p.Asp301His)
|
|
|
NM_001042492.3(NF1):c.905G>A (p.Ser302Asn)
|
rs786202746
|
|
NM_001042492.3(NF1):c.907C>G (p.Leu303Val)
|
rs1555610847
|
|
NM_001042492.3(NF1):c.910C>G (p.Arg304Gly)
|
rs786203950
|
|
NM_001042492.3(NF1):c.911G>T (p.Arg304Leu)
|
rs76015786
|
|
NM_001042492.3(NF1):c.913A>G (p.Lys305Glu)
|
rs1567835041
|
|
NM_001042492.3(NF1):c.91C>G (p.His31Asp)
|
rs786202864
|
|
NM_001042492.3(NF1):c.922_923delinsTT (p.Ala308Phe)
|
rs1597680797
|
|
NM_001042492.3(NF1):c.923C>G (p.Ala308Gly)
|
rs876660836
|
|
NM_001042492.3(NF1):c.923C>T (p.Ala308Val)
|
|
|
NM_001042492.3(NF1):c.925_926delinsAT (p.Gly309Ile)
|
|
|
NM_001042492.3(NF1):c.926G>A (p.Gly309Asp)
|
rs1555610862
|
|
NM_001042492.3(NF1):c.926G>T (p.Gly309Val)
|
|
|
NM_001042492.3(NF1):c.928C>T (p.His310Tyr)
|
rs1597680837
|
|
NM_001042492.3(NF1):c.929A>G (p.His310Arg)
|
|
|
NM_001042492.3(NF1):c.92A>G (p.His31Arg)
|
rs199474725
|
|
NM_001042492.3(NF1):c.930T>A (p.His310Gln)
|
rs1555610865
|
|
NM_001042492.3(NF1):c.930T>G (p.His310Gln)
|
rs1555610865
|
|
NM_001042492.3(NF1):c.937A>G (p.Ser313Gly)
|
rs373320953
|
|
NM_001042492.3(NF1):c.938G>C (p.Ser313Thr)
|
rs2066506773
|
|
NM_001042492.3(NF1):c.938G>T (p.Ser313Ile)
|
|
|
NM_001042492.3(NF1):c.93T>A (p.His31Gln)
|
rs2143625630
|
|
NM_001042492.3(NF1):c.94A>G (p.Thr32Ala)
|
|
|
NM_001042492.3(NF1):c.950C>T (p.Thr317Ile)
|
|
|
NM_001042492.3(NF1):c.958G>C (p.Ala320Pro)
|
rs2066507272
|
|
NM_001042492.3(NF1):c.95C>A (p.Thr32Asn)
|
rs2065655236
|
|
NM_001042492.3(NF1):c.961G>C (p.Ala321Pro)
|
rs2066507408
|
|
NM_001042492.3(NF1):c.962C>T (p.Ala321Val)
|
rs2143873023
|
|
NM_001042492.3(NF1):c.965T>C (p.Ile322Thr)
|
rs1417994243
|
|
NM_001042492.3(NF1):c.967G>A (p.Ala323Thr)
|
rs2143873082
|
|
NM_001042492.3(NF1):c.974T>G (p.Val325Gly)
|
rs1422095982
|
|
NM_001042492.3(NF1):c.976A>G (p.Lys326Glu)
|
rs1597680956
|
|
NM_001042492.3(NF1):c.977A>G (p.Lys326Arg)
|
rs2066507912
|
|
NM_001042492.3(NF1):c.978_980del (p.Leu327del)
|
rs2066507983
|
|
NM_001042492.3(NF1):c.97A>G (p.Lys33Glu)
|
rs1060500324
|
|
NM_001042492.3(NF1):c.980T>C (p.Leu327Pro)
|
rs201624827
|
|
NM_001042492.3(NF1):c.983G>A (p.Cys328Tyr)
|
rs2143873368
|
|
NM_001042492.3(NF1):c.984T>G (p.Cys328Trp)
|
|
|
NM_001042492.3(NF1):c.987A>G (p.Lys329=)
|
rs2066508210
|
|
NM_001042492.3(NF1):c.98A>G (p.Lys33Arg)
|
rs1555604887
|
|
NM_001042492.3(NF1):c.992G>C (p.Ser331Thr)
|
rs1555610899
|
|
NM_001042492.3(NF1):c.996T>G (p.Thr332=)
|
|
|
NM_001042492.3(NF1):c.997T>C (p.Tyr333His)
|
rs2066508508
|
|
NM_001042492.3(NF1):c.99A>G (p.Lys33=)
|
rs786203280
|
|
NM_001369769.2(KIFC2):c.2280_2282delinsTTC (p.Cys761Ser)
|
rs1586726058
|
|
NM_001374258.1(BRAF):c.1529C>G (p.Thr510Arg)
|
rs397516891
|
|
NM_001378469.1(BRAF):c.1178-61A>G
|
rs397516886
|
|
NM_001378475.1(BRAF):c.240+15434C>T
|
rs769648920
|
|
NM_002524.4(NRAS):c.-132C>T
|
rs886045109
|
|
NM_002524.4(NRAS):c.-209A>G
|
rs886045111
|
|
NM_002524.4(NRAS):c.-242G>C
|
rs886045112
|
|
NM_002524.4(NRAS):c.-245C>T
|
rs886045113
|
|
NM_002524.5(NRAS):c.*1062_*1063del
|
rs775070295
|
|
NM_002524.5(NRAS):c.*1105C>T
|
rs1658933470
|
|
NM_002524.5(NRAS):c.*1382G>T
|
rs886045105
|
|
NM_002524.5(NRAS):c.*1643G>C
|
rs571329214
|
|
NM_002524.5(NRAS):c.*1656C>T
|
rs886045104
|
|
NM_002524.5(NRAS):c.*1845T>C
|
rs1480696185
|
|
NM_002524.5(NRAS):c.*1887T>C
|
rs1658917145
|
|
NM_002524.5(NRAS):c.*1936C>G
|
rs1658915425
|
|
NM_002524.5(NRAS):c.*2178G>A
|
rs886045103
|
|
NM_002524.5(NRAS):c.*2226G>C
|
rs1658900816
|
|
NM_002524.5(NRAS):c.*2328G>A
|
rs1201037392
|
|
NM_002524.5(NRAS):c.*2412G>A
|
rs757692247
|
|
NM_002524.5(NRAS):c.*2589G>A
|
rs556142436
|
|
NM_002524.5(NRAS):c.*2677A>T
|
rs886045101
|
|
NM_002524.5(NRAS):c.*2714G>T
|
rs886045100
|
|
NM_002524.5(NRAS):c.*2811C>A
|
rs1658883840
|
|
NM_002524.5(NRAS):c.*2860G>A
|
rs886045099
|
|
NM_002524.5(NRAS):c.*3020A>G
|
rs550638204
|
|
NM_002524.5(NRAS):c.*3362T>C
|
rs577115849
|
|
NM_002524.5(NRAS):c.*3392T>C
|
rs886045097
|
|
NM_002524.5(NRAS):c.*3430T>A
|
rs539638523
|
|
NM_002524.5(NRAS):c.*935dup
|
rs886045106
|
|
NM_002524.5(NRAS):c.107T>C (p.Ile36Thr)
|
|
|
NM_002524.5(NRAS):c.140A>G (p.Asp47Gly)
|
rs1383166562
|
|
NM_002524.5(NRAS):c.152G>A (p.Cys51Tyr)
|
rs1659099474
|
|
NM_002524.5(NRAS):c.166C>G (p.Leu56Val)
|
|
|
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)
|
rs121913254
|
|
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu)
|
rs11554290
|
|
NM_002524.5(NRAS):c.183A>T (p.Gln61His)
|
rs121913255
|
|
NM_002524.5(NRAS):c.18GGT[2] (p.Val9del)
|
|
|
NM_002524.5(NRAS):c.203G>C (p.Arg68Thr)
|
rs1659097707
|
|
NM_002524.5(NRAS):c.22G>A (p.Val8Met)
|
rs2101744314
|
|
NM_002524.5(NRAS):c.235C>T (p.Leu79Phe)
|
rs1659097188
|
|
NM_002524.5(NRAS):c.259A>T (p.Ser87Cys)
|
|
|
NM_002524.5(NRAS):c.25G>A (p.Val9Ile)
|
rs1553244682
|
|
NM_002524.5(NRAS):c.260G>A (p.Ser87Asn)
|
rs1385254281
|
|
NM_002524.5(NRAS):c.272C>T (p.Ala91Val)
|
rs774832953
|
|
NM_002524.5(NRAS):c.283C>T (p.Leu95Phe)
|
|
|
NM_002524.5(NRAS):c.290+4C>T
|
|
|
NM_002524.5(NRAS):c.297G>T (p.Gln99His)
|
rs941246661
|
|
NM_002524.5(NRAS):c.300T>G (p.Ile100Met)
|
rs575693594
|
|
NM_002524.5(NRAS):c.305G>A (p.Arg102Gln)
|
|
|
NM_002524.5(NRAS):c.31G>A (p.Ala11Thr)
|
rs1367788342
|
|
NM_002524.5(NRAS):c.320A>C (p.Asp107Ala)
|
rs1570871503
|
|
NM_002524.5(NRAS):c.325G>A (p.Val109Ile)
|
|
|
NM_002524.5(NRAS):c.334G>T (p.Val112Leu)
|
rs730880968
|
|
NM_002524.5(NRAS):c.356A>G (p.Asp119Gly)
|
|
|
NM_002524.5(NRAS):c.368G>A (p.Arg123Lys)
|
rs727503347
|
|
NM_002524.5(NRAS):c.370A>G (p.Thr124Ala)
|
rs747732620
|
|
NM_002524.5(NRAS):c.380C>G (p.Thr127Arg)
|
rs779899354
|
|
NM_002524.5(NRAS):c.380C>T (p.Thr127Ile)
|
rs779899354
|
|
NM_002524.5(NRAS):c.394G>A (p.Glu132Lys)
|
|
|
NM_002524.5(NRAS):c.404A>G (p.Lys135Arg)
|
|
|
NM_002524.5(NRAS):c.412G>A (p.Gly138Arg)
|
|
|
NM_002524.5(NRAS):c.41T>G (p.Val14Gly)
|
|
|
NM_002524.5(NRAS):c.421T>C (p.Phe141Leu)
|
|
|
NM_002524.5(NRAS):c.424A>G (p.Ile142Val)
|
|
|
NM_002524.5(NRAS):c.425T>C (p.Ile142Thr)
|
|
|
NM_002524.5(NRAS):c.42T>C (p.Val14=)
|
rs1433972399
|
|
NM_002524.5(NRAS):c.430A>G (p.Thr144Ala)
|
|
|
NM_002524.5(NRAS):c.436G>A (p.Ala146Thr)
|
|
|
NM_002524.5(NRAS):c.441G>T (p.Lys147Asn)
|
|
|
NM_002524.5(NRAS):c.450+3A>G
|
|
|
NM_002524.5(NRAS):c.450+6G>A
|
|
|
NM_002524.5(NRAS):c.450+6G>T
|
|
|
NM_002524.5(NRAS):c.450G>C (p.Gln150His)
|
|
|
NM_002524.5(NRAS):c.454G>T (p.Val152Phe)
|
|
|
NM_002524.5(NRAS):c.457G>A (p.Glu153Lys)
|
|
|
NM_002524.5(NRAS):c.461A>G (p.Asp154Gly)
|
rs1429449890
|
|
NM_002524.5(NRAS):c.478G>A (p.Val160Ile)
|
rs2101737856
|
|
NM_002524.5(NRAS):c.490C>A (p.Arg164Ser)
|
|
|
NM_002524.5(NRAS):c.499C>T (p.Arg167Ter)
|
rs1658970955
|
|
NM_002524.5(NRAS):c.4A>G (p.Thr2Ala)
|
|
|
NM_002524.5(NRAS):c.524ATG[3] (p.Asp176_Gly177insAsp)
|
|
|
NM_002524.5(NRAS):c.526G>T (p.Asp176Tyr)
|
|
|
NM_002524.5(NRAS):c.539_*4+1del
|
rs1658965835
|
|
NM_002524.5(NRAS):c.544A>T (p.Met182Leu)
|
|
|
NM_002524.5(NRAS):c.562G>T (p.Val188Leu)
|
rs730880381
|
|
NM_002524.5(NRAS):c.65A>G (p.Gln22Arg)
|
rs1570877514
|
|
NM_002709.3(PPP1CB):c.434T>A (p.Ile145Asn)
|
rs2148051984
|
|
NM_002745.5(MAPK1):c.155C>A (p.Ala52Asp)
|
rs2145705712
|
|
NM_002755.4(MAP2K1):c.*917del
|
rs886051370
|
|
NM_002755.4(MAP2K1):c.*917dup
|
rs886051370
|
|
NM_002755.4(MAP2K1):c.1004A>G (p.Gln335Arg)
|
rs2140683019
|
|
NM_002755.4(MAP2K1):c.1008T>G (p.Asp336Glu)
|
|
|
NM_002755.4(MAP2K1):c.1022+6T>G
|
|
|
NM_002755.4(MAP2K1):c.1023-11_1023-4del
|
|
|
NM_002755.4(MAP2K1):c.1023-4T>A
|
|
|
NM_002755.4(MAP2K1):c.1023-4T>G
|
rs1462240441
|
|
NM_002755.4(MAP2K1):c.1030A>C (p.Lys344Gln)
|
|
|
NM_002755.4(MAP2K1):c.1031_1034del (p.Lys344fs)
|
|
|
NM_002755.4(MAP2K1):c.1047A>C (p.Arg349Ser)
|
rs1177367316
|
|
NM_002755.4(MAP2K1):c.1053T>A (p.Asp351Glu)
|
|
|
NM_002755.4(MAP2K1):c.1054T>G (p.Leu352Val)
|
|
|
NM_002755.4(MAP2K1):c.1067T>C (p.Met356Thr)
|
|
|
NM_002755.4(MAP2K1):c.1068+12_1068+15del
|
rs397516788
|
|
NM_002755.4(MAP2K1):c.1069-3C>T
|
|
|
NM_002755.4(MAP2K1):c.1072C>T (p.His358Tyr)
|
rs1595889532
|
|
NM_002755.4(MAP2K1):c.1113T>G (p.Phe371Leu)
|
|
|
NM_002755.4(MAP2K1):c.1153A>G (p.Ser385Gly)
|
|
|
NM_002755.4(MAP2K1):c.1157C>T (p.Thr386Ile)
|
|
|
NM_002755.4(MAP2K1):c.1180dup (p.Ter394LeuextTer?)
|
rs1893223775
|
|
NM_002755.4(MAP2K1):c.1181_*2del (p.Ter394CysextTer?)
|
rs1595889609
|
|
NM_002755.4(MAP2K1):c.126TGA[1] (p.Asp43del)
|
rs1555416037
|
|
NM_002755.4(MAP2K1):c.130_162del (p.Glu44_Leu54del)
|
rs2140578690
|
|
NM_002755.4(MAP2K1):c.138del (p.Gln46fs)
|
|
|
NM_002755.4(MAP2K1):c.139C>T (p.Arg47Ter)
|
|
|
NM_002755.4(MAP2K1):c.140G>A (p.Arg47Gln)
|
rs1567009054
|
|
NM_002755.4(MAP2K1):c.146G>A (p.Arg49His)
|
|
|
NM_002755.4(MAP2K1):c.149T>C (p.Leu50Pro)
|
rs2140578834
|
|
NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln)
|
rs397516790
|
|
NM_002755.4(MAP2K1):c.173A>G (p.Gln58Arg)
|
|
|
NM_002755.4(MAP2K1):c.174G>T (p.Gln58His)
|
rs2093484335
|
|
NM_002755.4(MAP2K1):c.198C>A (p.Asp66Glu)
|
rs56200325
|
|
NM_002755.4(MAP2K1):c.205G>A (p.Glu69Lys)
|
rs2093484413
|
|
NM_002755.4(MAP2K1):c.212T>C (p.Ile71Thr)
|
rs2140579455
|
|
NM_002755.4(MAP2K1):c.212T>G (p.Ile71Ser)
|
rs2140579455
|
|
NM_002755.4(MAP2K1):c.215G>A (p.Ser72Asn)
|
|
|
NM_002755.4(MAP2K1):c.238G>A (p.Gly80Ser)
|
rs2140579691
|
|
NM_002755.4(MAP2K1):c.239G>A (p.Gly80Asp)
|
|
|
NM_002755.4(MAP2K1):c.247T>C (p.Phe83Leu)
|
|
|
NM_002755.4(MAP2K1):c.256T>A (p.Ser86Thr)
|
|
|
NM_002755.4(MAP2K1):c.265C>T (p.Pro89Ser)
|
|
|
NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg)
|
rs397516791
|
|
NM_002755.4(MAP2K1):c.280A>G (p.Met94Val)
|
|
|
NM_002755.4(MAP2K1):c.319A>G (p.Ile107Val)
|
rs1567009717
|
|
NM_002755.4(MAP2K1):c.31C>G (p.Leu11Val)
|
|
|
NM_002755.4(MAP2K1):c.323G>A (p.Arg108Gln)
|
rs727504819
|
|
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu)
|
rs727504819
|
|
NM_002755.4(MAP2K1):c.365A>G (p.Asn122Ser)
|
|
|
NM_002755.4(MAP2K1):c.370C>A (p.Pro124Thr)
|
rs1057519732
|
|
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser)
|
rs1057519732
|
|
NM_002755.4(MAP2K1):c.379G>A (p.Val127Met)
|
rs1013906172
|
|
NM_002755.4(MAP2K1):c.383del (p.Gly128fs)
|
|
|
NM_002755.4(MAP2K1):c.404G>A (p.Ser135Asn)
|
|
|
NM_002755.4(MAP2K1):c.41C>T (p.Ala14Val)
|
|
|
NM_002755.4(MAP2K1):c.421A>G (p.Ile141Val)
|
rs1189360966
|
|
NM_002755.4(MAP2K1):c.438+4T>A
|
|
|
NM_002755.4(MAP2K1):c.43C>G (p.Pro15Ala)
|
|
|
NM_002755.4(MAP2K1):c.43C>T (p.Pro15Ser)
|
rs916502006
|
|
NM_002755.4(MAP2K1):c.460G>A (p.Val154Ile)
|
|
|
NM_002755.4(MAP2K1):c.481A>G (p.Ile161Val)
|
rs2140598087
|
|
NM_002755.4(MAP2K1):c.482T>C (p.Ile161Thr)
|
rs2140598095
|
|
NM_002755.4(MAP2K1):c.48C>A (p.Asp16Glu)
|
rs1330053912
|
|
NM_002755.4(MAP2K1):c.490C>A (p.Gln164Lys)
|
rs1891772126
|
|
NM_002755.4(MAP2K1):c.503A>G (p.Lys168Arg)
|
rs886051366
|
|
NM_002755.4(MAP2K1):c.509G>A (p.Ser170Asn)
|
|
|
NM_002755.4(MAP2K1):c.516+1G>A
|
rs1240248728
|
|
NM_002755.4(MAP2K1):c.516+3G>A
|
|
|
NM_002755.4(MAP2K1):c.517-1G>T
|
|
|
NM_002755.4(MAP2K1):c.529C>A (p.Leu177Met)
|
|
|
NM_002755.4(MAP2K1):c.551A>T (p.His184Leu)
|
|
|
NM_002755.4(MAP2K1):c.553A>G (p.Lys185Glu)
|
|
|
NM_002755.4(MAP2K1):c.556A>G (p.Ile186Val)
|
|
|
NM_002755.4(MAP2K1):c.568+4A>G
|
|
|
NM_002755.4(MAP2K1):c.568+6A>G
|
rs1430324310
|
|
NM_002755.4(MAP2K1):c.596A>G (p.Asn199Ser)
|
|
|
NM_002755.4(MAP2K1):c.5C>G (p.Pro2Arg)
|
|
|
NM_002755.4(MAP2K1):c.612C>G (p.Ile204Met)
|
rs2140667598
|
|
NM_002755.4(MAP2K1):c.633C>G (p.Val211=)
|
|
|
NM_002755.4(MAP2K1):c.637G>A (p.Gly213Arg)
|
|
|
NM_002755.4(MAP2K1):c.647T>C (p.Ile216Thr)
|
|
|
NM_002755.4(MAP2K1):c.649G>A (p.Asp217Asn)
|
|
|
NM_002755.4(MAP2K1):c.692C>G (p.Ser231Trp)
|
|
|
NM_002755.4(MAP2K1):c.693+4T>C
|
|
|
NM_002755.4(MAP2K1):c.709G>A (p.Gly237Arg)
|
|
|
NM_002755.4(MAP2K1):c.70A>G (p.Ser24Gly)
|
rs2093344167
|
|
NM_002755.4(MAP2K1):c.724G>A (p.Val242Met)
|
|
|
NM_002755.4(MAP2K1):c.729G>T (p.Gln243His)
|
rs772752167
|
|
NM_002755.4(MAP2K1):c.754T>G (p.Ser252Ala)
|
|
|
NM_002755.4(MAP2K1):c.770C>T (p.Ala257Val)
|
rs1334665647
|
|
NM_002755.4(MAP2K1):c.772G>T (p.Val258Phe)
|
|
|
NM_002755.4(MAP2K1):c.77C>T (p.Ala26Val)
|
|
|
NM_002755.4(MAP2K1):c.793C>T (p.Pro265Ser)
|
rs1567025858
|
|
NM_002755.4(MAP2K1):c.80+2T>C
|
|
|
NM_002755.4(MAP2K1):c.80+6T>C
|
|
|
NM_002755.4(MAP2K1):c.800A>T (p.Asp267Val)
|
|
|
NM_002755.4(MAP2K1):c.811C>G (p.Leu271Val)
|
|
|
NM_002755.4(MAP2K1):c.81G>A (p.Glu27=)
|
|
|
NM_002755.4(MAP2K1):c.836T>C (p.Val279Ala)
|
|
|
NM_002755.4(MAP2K1):c.842_844del (p.Gly281del)
|
|
|
NM_002755.4(MAP2K1):c.851C>A (p.Ala284Asp)
|
|
|
NM_002755.4(MAP2K1):c.853G>A (p.Glu285Lys)
|
rs1893007795
|
|
NM_002755.4(MAP2K1):c.868C>A (p.Pro290Thr)
|
|
|
NM_002755.4(MAP2K1):c.86A>G (p.Asn29Ser)
|
|
|
NM_002755.4(MAP2K1):c.875C>G (p.Thr292Ser)
|
rs397516794
|
|
NM_002755.4(MAP2K1):c.885G>T (p.Arg295Ser)
|
|
|
NM_002755.4(MAP2K1):c.894C>T (p.Ser298=)
|
rs2140675493
|
|
NM_002755.4(MAP2K1):c.895+15G>A
|
|
|
NM_002755.4(MAP2K1):c.895+19C>A
|
|
|
NM_002755.4(MAP2K1):c.896-3T>C
|
rs2140678872
|
|
NM_002755.4(MAP2K1):c.899A>G (p.Tyr300Cys)
|
|
|
NM_002755.4(MAP2K1):c.904A>C (p.Met302Leu)
|
rs1023593707
|
|
NM_002755.4(MAP2K1):c.906G>T (p.Met302Ile)
|
|
|
NM_002755.4(MAP2K1):c.914G>A (p.Arg305Gln)
|
rs1595887104
|
|
NM_002755.4(MAP2K1):c.917C>T (p.Pro306Leu)
|
rs1555420826
|
|
NM_002755.4(MAP2K1):c.928A>G (p.Ile310Val)
|
|
|
NM_002755.4(MAP2K1):c.960+1G>T
|
|
|
NM_002755.4(MAP2K1):c.960+5G>A
|
|
|
NM_002755.4(MAP2K1):c.961-2A>G
|
rs2140682916
|
|
NM_002755.4(MAP2K1):c.970A>C (p.Lys324Gln)
|
rs762436311
|
|
NM_002755.4(MAP2K1):c.983_987del (p.Gly328fs)
|
|
|
NM_002755.4(MAP2K1):c.995T>A (p.Leu332Gln)
|
rs1316044036
|
|
NM_002834.3(PTPN11):c.-291G>A
|
rs997562896
|
|
NM_002834.3(PTPN11):c.-317C>G
|
rs373537430
|
|
NM_002834.4(PTPN11):c.-176G>T
|
rs919391557
|
|
NM_002834.4(PTPN11):c.-179G>C
|
rs545369072
|
|
NM_002834.5(PTPN11):c.*1015C>G
|
rs538946251
|
|
NM_002834.5(PTPN11):c.*1035A>G
|
rs886048970
|
|
NM_002834.5(PTPN11):c.*1157ATG[13]
|
rs80269561
|
|
NM_002834.5(PTPN11):c.*1157ATG[16]
|
rs80269561
|
|
NM_002834.5(PTPN11):c.*1157ATG[17]
|
rs80269561
|
|
NM_002834.5(PTPN11):c.*1536T>G
|
rs371375321
|
|
NM_002834.5(PTPN11):c.*1729A>G
|
rs886048975
|
|
NM_002834.5(PTPN11):c.*1946G>A
|
rs886048976
|
|
NM_002834.5(PTPN11):c.*2822A>G
|
rs1164863703
|
|
NM_002834.5(PTPN11):c.*3244A>G
|
rs763237386
|
|
NM_002834.5(PTPN11):c.*41_*46del
|
rs886048967
|
|
NM_002834.5(PTPN11):c.*656del
|
rs886048968
|
|
NM_002834.5(PTPN11):c.*673G>A
|
rs2038937189
|
|
NM_002834.5(PTPN11):c.*684G>A
|
rs1566194466
|
|
NM_002834.5(PTPN11):c.-139G>A
|
rs886048964
|
|
NM_002834.5(PTPN11):c.-151C>A
|
rs889190246
|
|
NM_002834.5(PTPN11):c.-161T>A
|
rs893158717
|
|
NM_002834.5(PTPN11):c.1018G>T (p.Asp340Tyr)
|
rs2135901995
|
|
NM_002834.5(PTPN11):c.1027C>T (p.Arg343Trp)
|
rs1373621596
|
|
NM_002834.5(PTPN11):c.1032G>A (p.Met344Ile)
|
rs2038533623
|
|
NM_002834.5(PTPN11):c.1039C>A (p.Gln347Lys)
|
rs2038533750
|
|
NM_002834.5(PTPN11):c.103A>G (p.Lys35Glu)
|
rs934388335
|
|
NM_002834.5(PTPN11):c.1043A>T (p.Glu348Val)
|
rs1287780991
|
|
NM_002834.5(PTPN11):c.1049C>A (p.Ser350Tyr)
|
rs2135902093
|
|
NM_002834.5(PTPN11):c.104A>T (p.Lys35Ile)
|
|
|
NM_002834.5(PTPN11):c.1057A>C (p.Ile353Leu)
|
rs752392909
|
|
NM_002834.5(PTPN11):c.1078G>A (p.Val360Met)
|
|
|
NM_002834.5(PTPN11):c.1085G>A (p.Arg362Lys)
|
rs2135902194
|
|
NM_002834.5(PTPN11):c.1091A>G (p.Lys364Arg)
|
rs988676659
|
|
NM_002834.5(PTPN11):c.1093A>C (p.Ser365Arg)
|
rs1566183223
|
|
NM_002834.5(PTPN11):c.1095T>A (p.Ser365Arg)
|
|
|
NM_002834.5(PTPN11):c.1117G>A (p.Asp373Asn)
|
|
|
NM_002834.5(PTPN11):c.1121A>G (p.Glu374Gly)
|
|
|
NM_002834.5(PTPN11):c.1126G>A (p.Ala376Thr)
|
|
|
NM_002834.5(PTPN11):c.1129C>G (p.Leu377Val)
|
rs1322494804
|
|
NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile)
|
rs1214510641
|
|
NM_002834.5(PTPN11):c.1148T>C (p.Met383Thr)
|
rs1260386432
|
|
NM_002834.5(PTPN11):c.1150C>T (p.Arg384Cys)
|
|
|
NM_002834.5(PTPN11):c.1166A>G (p.Lys389Arg)
|
rs2038606620
|
|
NM_002834.5(PTPN11):c.1171A>G (p.Ser391Gly)
|
rs2135906878
|
|
NM_002834.5(PTPN11):c.1172G>A (p.Ser391Asn)
|
|
|
NM_002834.5(PTPN11):c.1177G>A (p.Ala393Thr)
|
|
|
NM_002834.5(PTPN11):c.1183G>T (p.Asp395Tyr)
|
|
|
NM_002834.5(PTPN11):c.1186T>C (p.Tyr396His)
|
|
|
NM_002834.5(PTPN11):c.1198G>A (p.Glu400Lys)
|
|
|
NM_002834.5(PTPN11):c.11G>A (p.Arg4Gln)
|
|
|
NM_002834.5(PTPN11):c.1205A>C (p.Lys402Thr)
|
|
|
NM_002834.5(PTPN11):c.1216G>A (p.Val406Ile)
|
rs1592850347
|
|
NM_002834.5(PTPN11):c.1221A>G (p.Gly407=)
|
rs532529560
|
|
NM_002834.5(PTPN11):c.1223A>G (p.Gln408Arg)
|
rs2038607572
|
|
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met)
|
rs121918467
|
|
NM_002834.5(PTPN11):c.1235A>G (p.Glu412Gly)
|
rs2038677213
|
|
NM_002834.5(PTPN11):c.1241C>T (p.Thr414Met)
|
|
|
NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp)
|
rs1355732645
|
|
NM_002834.5(PTPN11):c.1277A>C (p.His426Pro)
|
rs727505389
|
|
NM_002834.5(PTPN11):c.127C>G (p.Leu43Val)
|
rs1566164987
|
|
NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe)
|
rs1566164987
|
|
NM_002834.5(PTPN11):c.1281C>T (p.Gly427=)
|
rs753173299
|
|
NM_002834.5(PTPN11):c.1282G>C (p.Val428Leu)
|
rs397507536
|
|
NM_002834.5(PTPN11):c.1294C>G (p.Pro432Ala)
|
|
|
NM_002834.5(PTPN11):c.1302C>T (p.Gly434=)
|
rs777895575
|
|
NM_002834.5(PTPN11):c.1303G>T (p.Val435Leu)
|
|
|
NM_002834.5(PTPN11):c.1326G>A (p.Val442=)
|
|
|
NM_002834.5(PTPN11):c.1331A>G (p.His444Arg)
|
|
|
NM_002834.5(PTPN11):c.133G>A (p.Val45Ile)
|
rs2037995352
|
|
NM_002834.5(PTPN11):c.1343G>A (p.Ser448Asn)
|
|
|
NM_002834.5(PTPN11):c.1348A>G (p.Met450Val)
|
rs2038680566
|
|
NM_002834.5(PTPN11):c.1348A>T (p.Met450Leu)
|
|
|
NM_002834.5(PTPN11):c.1349T>C (p.Met450Thr)
|
rs2135912854
|
|
NM_002834.5(PTPN11):c.1358G>A (p.Gly453Glu)
|
|
|
NM_002834.5(PTPN11):c.1361C>T (p.Pro454Leu)
|
rs1566185599
|
|
NM_002834.5(PTPN11):c.1379+6A>C
|
|
|
NM_002834.5(PTPN11):c.138-12G>A
|
|
|
NM_002834.5(PTPN11):c.1382C>T (p.Ala461Val)
|
rs397509344
|
|
NM_002834.5(PTPN11):c.1385G>T (p.Gly462Val)
|
rs2038706464
|
|
NM_002834.5(PTPN11):c.1387A>G (p.Ile463Val)
|
|
|
NM_002834.5(PTPN11):c.14+6G>T
|
rs1244171867
|
|
NM_002834.5(PTPN11):c.14+8G>T
|
rs886048965
|
|
NM_002834.5(PTPN11):c.1402_1403delinsGA (p.Thr468Glu)
|
rs886039711
|
|
NM_002834.5(PTPN11):c.1408A>G (p.Ile470Val)
|
rs779978269
|
|
NM_002834.5(PTPN11):c.1426A>G (p.Ile476Val)
|
rs2038706987
|
|
NM_002834.5(PTPN11):c.1432A>G (p.Ile478Val)
|
|
|
NM_002834.5(PTPN11):c.1444A>C (p.Lys482Gln)
|
|
|
NM_002834.5(PTPN11):c.1447+6T>C
|
|
|
NM_002834.5(PTPN11):c.1450G>A (p.Val484Ile)
|
rs2135916035
|
|
NM_002834.5(PTPN11):c.1453G>T (p.Asp485Tyr)
|
rs397507538
|
|
NM_002834.5(PTPN11):c.1454A>G (p.Asp485Gly)
|
rs2135916057
|
|
NM_002834.5(PTPN11):c.1464T>G (p.Ile488Met)
|
|
|
NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala)
|
rs397507539
|
|
NM_002834.5(PTPN11):c.148G>A (p.Ala50Thr)
|
rs587778636
|
|
NM_002834.5(PTPN11):c.1496C>G (p.Ser499Cys)
|
|
|
NM_002834.5(PTPN11):c.1498C>G (p.Gln500Glu)
|
rs2038714548
|
|
NM_002834.5(PTPN11):c.1499A>G (p.Gln500Arg)
|
rs1173984843
|
|
NM_002834.5(PTPN11):c.15-4del
|
rs1223869705
|
|
NM_002834.5(PTPN11):c.1500G>T (p.Gln500His)
|
|
|
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile)
|
rs397507503
|
|
NM_002834.5(PTPN11):c.1594G>C (p.Glu532Gln)
|
|
|
NM_002834.5(PTPN11):c.1599+4C>A
|
rs142606486
|
|
NM_002834.5(PTPN11):c.1599+5C>T
|
|
|
NM_002834.5(PTPN11):c.1599+6A>C
|
|
|
NM_002834.5(PTPN11):c.1604G>A (p.Ser535Asn)
|
|
|
NM_002834.5(PTPN11):c.1628C>T (p.Thr543Ile)
|
rs1057520397
|
|
NM_002834.5(PTPN11):c.1648G>A (p.Ala550Thr)
|
|
|
NM_002834.5(PTPN11):c.164A>G (p.Lys55Arg)
|
rs1261667540
|
|
NM_002834.5(PTPN11):c.1657A>T (p.Thr553Ser)
|
|
|
NM_002834.5(PTPN11):c.1662T>C (p.Ser554=)
|
rs2135928801
|
|
NM_002834.5(PTPN11):c.1671G>C (p.Gln557His)
|
rs753741561
|
|
NM_002834.5(PTPN11):c.1675C>T (p.Pro559Ser)
|
rs1060502526
|
|
NM_002834.5(PTPN11):c.1676C>T (p.Pro559Leu)
|
|
|
NM_002834.5(PTPN11):c.1678C>G (p.Leu560Val)
|
rs397516797
|
|
NM_002834.5(PTPN11):c.167T>C (p.Ile56Thr)
|
rs1052382672
|
|
NM_002834.5(PTPN11):c.1685C>T (p.Pro562Leu)
|
rs2038884191
|
|
NM_002834.5(PTPN11):c.1690A>G (p.Thr564Ala)
|
|
|
NM_002834.5(PTPN11):c.1696A>G (p.Thr566Ala)
|
rs746712068
|
|
NM_002834.5(PTPN11):c.1705T>C (p.Cys569Arg)
|
rs1420924484
|
|
NM_002834.5(PTPN11):c.1708G>T (p.Ala570Ser)
|
|
|
NM_002834.5(PTPN11):c.1712A>C (p.Glu571Ala)
|
|
|
NM_002834.5(PTPN11):c.1713-6_1730del
|
rs2135930793
|
|
NM_002834.5(PTPN11):c.1716G>A (p.Met572Ile)
|
|
|
NM_002834.5(PTPN11):c.1724A>G (p.Asp575Gly)
|
rs397516799
|
|
NM_002834.5(PTPN11):c.1727G>A (p.Ser576Asn)
|
|
|
NM_002834.5(PTPN11):c.1739A>G (p.Tyr580Cys)
|
rs2038914051
|
|
NM_002834.5(PTPN11):c.1742A>C (p.Glu581Ala)
|
rs2135930864
|
|
NM_002834.5(PTPN11):c.1763A>G (p.Gln588Arg)
|
|
|
NM_002834.5(PTPN11):c.1766A>C (p.Gln589Pro)
|
|
|
NM_002834.5(PTPN11):c.179_181del (p.Gly60del)
|
rs80338836
|
|
NM_002834.5(PTPN11):c.184_185delinsAT (p.Tyr62Ile)
|
|
|
NM_002834.5(PTPN11):c.185A>G (p.Tyr62Cys)
|
|
|
NM_002834.5(PTPN11):c.18G>T (p.Trp6Cys)
|
|
|
NM_002834.5(PTPN11):c.222G>A (p.Leu74=)
|
rs1429492147
|
|
NM_002834.5(PTPN11):c.223G>C (p.Ala75Pro)
|
rs1555267561
|
|
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys)
|
rs121918464
|
|
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly)
|
rs121918465
|
|
NM_002834.5(PTPN11):c.246G>C (p.Met82Ile)
|
rs753788277
|
|
NM_002834.5(PTPN11):c.256G>A (p.Gly86Arg)
|
rs925129380
|
|
NM_002834.5(PTPN11):c.276T>A (p.Asn92Lys)
|
rs2135862739
|
|
NM_002834.5(PTPN11):c.279A>T (p.Gly93=)
|
|
|
NM_002834.5(PTPN11):c.281A>G (p.Asp94Gly)
|
rs2135862786
|
|
NM_002834.5(PTPN11):c.283G>A (p.Val95Ile)
|
rs2135862799
|
|
NM_002834.5(PTPN11):c.289G>A (p.Glu97Lys)
|
rs397507516
|
|
NM_002834.5(PTPN11):c.28A>G (p.Asn10Asp)
|
rs368633510
|
|
NM_002834.5(PTPN11):c.290A>T (p.Glu97Val)
|
rs2135862855
|
|
NM_002834.5(PTPN11):c.29A>C (p.Asn10Thr)
|
|
|
NM_002834.5(PTPN11):c.29A>G (p.Asn10Ser)
|
|
|
NM_002834.5(PTPN11):c.302C>T (p.Pro101Leu)
|
|
|
NM_002834.5(PTPN11):c.325T>C (p.Ser109Pro)
|
|
|
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys)
|
rs397507518
|
|
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly)
|
rs397507519
|
|
NM_002834.5(PTPN11):c.32T>C (p.Ile11Thr)
|
|
|
NM_002834.5(PTPN11):c.332+3C>T
|
|
|
NM_002834.5(PTPN11):c.369G>T (p.Glu123Asp)
|
rs755619262
|
|
NM_002834.5(PTPN11):c.387A>C (p.Lys129Asn)
|
|
|
NM_002834.5(PTPN11):c.395A>C (p.His132Pro)
|
|
|
NM_002834.5(PTPN11):c.418A>T (p.Ser140Cys)
|
rs1060502527
|
|
NM_002834.5(PTPN11):c.466G>T (p.Asp156Tyr)
|
|
|
NM_002834.5(PTPN11):c.470A>G (p.Lys157Arg)
|
rs1315568280
|
|
NM_002834.5(PTPN11):c.473G>C (p.Gly158Ala)
|
rs1555267825
|
|
NM_002834.5(PTPN11):c.473G>T (p.Gly158Val)
|
|
|
NM_002834.5(PTPN11):c.479G>A (p.Ser160Asn)
|
rs1044076600
|
|
NM_002834.5(PTPN11):c.487G>T (p.Gly163Cys)
|
|
|
NM_002834.5(PTPN11):c.500T>C (p.Val167Ala)
|
|
|
NM_002834.5(PTPN11):c.501G>C (p.Val167=)
|
|
|
NM_002834.5(PTPN11):c.502A>G (p.Thr168Ala)
|
rs2038105901
|
|
NM_002834.5(PTPN11):c.525+6T>A
|
rs370878456
|
|
NM_002834.5(PTPN11):c.525+6T>C
|
|
|
NM_002834.5(PTPN11):c.538G>A (p.Asp180Asn)
|
|
|
NM_002834.5(PTPN11):c.53A>G (p.Asn18Ser)
|
rs587778635
|
|
NM_002834.5(PTPN11):c.554A>T (p.Glu185Val)
|
|
|
NM_002834.5(PTPN11):c.557G>C (p.Arg186Pro)
|
rs764663951
|
|
NM_002834.5(PTPN11):c.55C>G (p.Leu19Val)
|
|
|
NM_002834.5(PTPN11):c.574G>A (p.Asp192Asn)
|
|
|
NM_002834.5(PTPN11):c.575A>C (p.Asp192Ala)
|
|
|
NM_002834.5(PTPN11):c.583G>C (p.Glu195Gln)
|
|
|
NM_002834.5(PTPN11):c.604A>T (p.Met202Leu)
|
|
|
NM_002834.5(PTPN11):c.611A>T (p.Glu204Val)
|
|
|
NM_002834.5(PTPN11):c.612A>T (p.Glu204Asp)
|
|
|
NM_002834.5(PTPN11):c.628C>A (p.Leu210Ile)
|
|
|
NM_002834.5(PTPN11):c.641A>T (p.Gln214Leu)
|
|
|
NM_002834.5(PTPN11):c.643-5A>G
|
|
|
NM_002834.5(PTPN11):c.643-6G>A
|
rs780387568
|
|
NM_002834.5(PTPN11):c.64A>G (p.Thr22Ala)
|
|
|
NM_002834.5(PTPN11):c.653C>T (p.Thr218Met)
|
|
|
NM_002834.5(PTPN11):c.658C>T (p.Arg220Cys)
|
rs2135872268
|
|
NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)
|
|
|
NM_002834.5(PTPN11):c.710C>T (p.Ala237Val)
|
|
|
NM_002834.5(PTPN11):c.712G>A (p.Glu238Lys)
|
|
|
NM_002834.5(PTPN11):c.727_732del (p.Val243_Lys244del)
|
rs2135872358
|
|
NM_002834.5(PTPN11):c.733C>G (p.Gln245Glu)
|
rs2038155027
|
|
NM_002834.5(PTPN11):c.756+6T>C
|
|
|
NM_002834.5(PTPN11):c.762ACA[2] (p.Gln257del)
|
rs397507524
|
|
NM_002834.5(PTPN11):c.770A>G (p.Gln257Arg)
|
rs2038442309
|
|
NM_002834.5(PTPN11):c.776G>A (p.Cys259Tyr)
|
|
|
NM_002834.5(PTPN11):c.781_782delinsTA (p.Leu261Tyr)
|
|
|
NM_002834.5(PTPN11):c.782T>G (p.Leu261Arg)
|
rs765642157
|
|
NM_002834.5(PTPN11):c.788A>G (p.Tyr263Cys)
|
rs763617831
|
|
NM_002834.5(PTPN11):c.853+3A>G
|
|
|
NM_002834.5(PTPN11):c.853+7A>G
|
|
|
NM_002834.5(PTPN11):c.853+8T>C
|
rs886048966
|
|
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val)
|
rs397507531
|
|
NM_002834.5(PTPN11):c.854-14T>A
|
rs2038526676
|
|
NM_002834.5(PTPN11):c.854T>A (p.Phe285Tyr)
|
rs121918463
|
|
NM_002834.5(PTPN11):c.865A>G (p.Arg289Gly)
|
rs2135901005
|
|
NM_002834.5(PTPN11):c.877C>T (p.His293Tyr)
|
|
|
NM_002834.5(PTPN11):c.879C>A (p.His293Gln)
|
rs117730996
|
|
NM_002834.5(PTPN11):c.879C>G (p.His293Gln)
|
rs117730996
|
|
NM_002834.5(PTPN11):c.880G>A (p.Asp294Asn)
|
|
|
NM_002834.5(PTPN11):c.880G>T (p.Asp294Tyr)
|
|
|
NM_002834.5(PTPN11):c.889C>G (p.Pro297Ala)
|
|
|
NM_002834.5(PTPN11):c.898C>A (p.Pro300Thr)
|
|
|
NM_002834.5(PTPN11):c.947C>T (p.Thr316Ile)
|
rs547041954
|
|
NM_002834.5(PTPN11):c.955A>G (p.Asn319Asp)
|
rs2038531520
|
|
NM_002834.5(PTPN11):c.956A>G (p.Asn319Ser)
|
|
|
NM_002834.5(PTPN11):c.965A>G (p.Lys322Arg)
|
|
|
NM_002834.5(PTPN11):c.972A>C (p.Lys324Asn)
|
|
|
NM_002834.5(PTPN11):c.997T>A (p.Cys333Ser)
|
rs730880993
|
|
NM_002880.3(RAF1):c.-26-?_1370+?dup
|
|
|
NM_002880.3(RAF1):c.-340_-339GA[1]
|
rs527774250
|
|
NM_002880.3(RAF1):c.1109_1111delGAG
|
|
|
NM_002880.4(RAF1):c.*120C>A
|
rs1575528605
|
|
NM_002880.4(RAF1):c.*162T>C
|
rs886057913
|
|
NM_002880.4(RAF1):c.*628G>T
|
rs374944110
|
|
NM_002880.4(RAF1):c.*640T>C
|
rs759464247
|
|
NM_002880.4(RAF1):c.*729AACA[4]
|
rs371820097
|
|
NM_002880.4(RAF1):c.*729AACA[6]
|
rs371820097
|
|
NM_002880.4(RAF1):c.-107C>T
|
rs1451879607
|
|
NM_002880.4(RAF1):c.-139T>G
|
rs886057918
|
|
NM_002880.4(RAF1):c.-146C>G
|
rs886057919
|
|
NM_002880.4(RAF1):c.-204G>C
|
rs547543588
|
|
NM_002880.4(RAF1):c.-59C>G
|
rs201603517
|
|
NM_002880.4(RAF1):c.1019A>G (p.Tyr340Cys)
|
rs2058798881
|
|
NM_002880.4(RAF1):c.1031T>C (p.Ile344Thr)
|
|
|
NM_002880.4(RAF1):c.1033G>C (p.Glu345Gln)
|
|
|
NM_002880.4(RAF1):c.1037C>A (p.Ala346Asp)
|
rs2125378113
|
|
NM_002880.4(RAF1):c.1055C>T (p.Ser352Phe)
|
rs2125377884
|
|
NM_002880.4(RAF1):c.1057A>G (p.Thr353Ala)
|
rs946464136
|
|
NM_002880.4(RAF1):c.106T>G (p.Phe36Val)
|
rs2125453209
|
|
NM_002880.4(RAF1):c.1079T>C (p.Phe360Ser)
|
|
|
NM_002880.4(RAF1):c.1085C>G (p.Thr362Ser)
|
rs2125377494
|
|
NM_002880.4(RAF1):c.1108+9_1108+21del
|
rs727504451
|
|
NM_002880.4(RAF1):c.1109-10A>G
|
|
|
NM_002880.4(RAF1):c.1127T>C (p.Ile376Thr)
|
rs1575546549
|
|
NM_002880.4(RAF1):c.1135G>T (p.Val379Phe)
|
|
|
NM_002880.4(RAF1):c.113A>C (p.Tyr38Ser)
|
rs576041742
|
|
NM_002880.4(RAF1):c.1144C>T (p.Pro382Ser)
|
rs1575546471
|
|
NM_002880.4(RAF1):c.1148C>A (p.Thr383Asn)
|
|
|
NM_002880.4(RAF1):c.1150C>T (p.Pro384Ser)
|
rs140788943
|
|
NM_002880.4(RAF1):c.1151C>G (p.Pro384Arg)
|
rs2125347586
|
|
NM_002880.4(RAF1):c.1192C>T (p.Arg398Cys)
|
|
|
NM_002880.4(RAF1):c.1193G>A (p.Arg398His)
|
rs730880382
|
|
NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu)
|
rs730880382
|
|
NM_002880.4(RAF1):c.11T>C (p.Ile4Thr)
|
|
|
NM_002880.4(RAF1):c.1201C>G (p.Arg401Gly)
|
|
|
NM_002880.4(RAF1):c.1201C>T (p.Arg401Trp)
|
|
|
NM_002880.4(RAF1):c.1208T>C (p.Val403Ala)
|
|
|
NM_002880.4(RAF1):c.121C>T (p.Arg41Trp)
|
rs1480507957
|
|
NM_002880.4(RAF1):c.1234A>G (p.Met412Val)
|
|
|
NM_002880.4(RAF1):c.1234A>T (p.Met412Leu)
|
rs1231291103
|
|
NM_002880.4(RAF1):c.1242G>C (p.Lys414Asn)
|
|
|
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile)
|
rs876657965
|
|
NM_002880.4(RAF1):c.1273G>A (p.Glu425Lys)
|
|
|
NM_002880.4(RAF1):c.1291A>T (p.Lys431Ter)
|
rs2125343165
|
|
NM_002880.4(RAF1):c.1292A>C (p.Lys431Thr)
|
rs747632183
|
|
NM_002880.4(RAF1):c.1313C>A (p.Thr438Asn)
|
|
|
NM_002880.4(RAF1):c.1317G>C (p.Lys439Asn)
|
|
|
NM_002880.4(RAF1):c.131A>C (p.Asp44Ala)
|
|
|
NM_002880.4(RAF1):c.1323G>C (p.Gln441His)
|
rs1131691942
|
|
NM_002880.4(RAF1):c.132T>A (p.Asp44Glu)
|
|
|
NM_002880.4(RAF1):c.1338T>G (p.Ile446Met)
|
|
|
NM_002880.4(RAF1):c.133G>A (p.Asp45Asn)
|
rs1575600313
|
|
NM_002880.4(RAF1):c.1342A>G (p.Ile448Val)
|
|
|
NM_002880.4(RAF1):c.1348C>T (p.Arg450Trp)
|
|
|
NM_002880.4(RAF1):c.1349G>A (p.Arg450Gln)
|
rs886041642
|
|
NM_002880.4(RAF1):c.1349G>T (p.Arg450Leu)
|
rs886041642
|
|
NM_002880.4(RAF1):c.1353G>C (p.Gln451His)
|
|
|
NM_002880.4(RAF1):c.1355C>A (p.Thr452Lys)
|
rs555781462
|
|
NM_002880.4(RAF1):c.1364G>A (p.Gly455Glu)
|
|
|
NM_002880.4(RAF1):c.1370+3G>A
|
rs2058489324
|
|
NM_002880.4(RAF1):c.1370+3_1370+6del
|
rs2125342650
|
|
NM_002880.4(RAF1):c.1371C>A (p.Asp457Glu)
|
rs2125332052
|
|
NM_002880.4(RAF1):c.1371C>G (p.Asp457Glu)
|
rs2125332052
|
|
NM_002880.4(RAF1):c.1376T>C (p.Leu459Ser)
|
|
|
NM_002880.4(RAF1):c.1385A>G (p.Lys462Arg)
|
|
|
NM_002880.4(RAF1):c.1388A>T (p.Asn463Ile)
|
|
|
NM_002880.4(RAF1):c.138C>T (p.Gly46=)
|
|
|
NM_002880.4(RAF1):c.1392C>G (p.Ile464Met)
|
rs2125332012
|
|
NM_002880.4(RAF1):c.1397A>G (p.His466Arg)
|
|
|
NM_002880.4(RAF1):c.1417+1G>A
|
|
|
NM_002880.4(RAF1):c.1418A>G (p.Asn473Ser)
|
|
|
NM_002880.4(RAF1):c.1421T>C (p.Ile474Thr)
|
|
|
NM_002880.4(RAF1):c.1426C>T (p.Leu476Phe)
|
rs2058315266
|
|
NM_002880.4(RAF1):c.1432G>A (p.Glu478Lys)
|
|
|
NM_002880.4(RAF1):c.1438T>A (p.Leu480Ile)
|
|
|
NM_002880.4(RAF1):c.1463G>A (p.Gly488Asp)
|
rs865862568
|
|
NM_002880.4(RAF1):c.1466T>C (p.Leu489Ser)
|
|
|
NM_002880.4(RAF1):c.1467G>C (p.Leu489Phe)
|
rs1553610155
|
|
NM_002880.4(RAF1):c.1467G>T (p.Leu489Phe)
|
rs1553610155
|
|
NM_002880.4(RAF1):c.146C>G (p.Thr49Arg)
|
|
|
NM_002880.4(RAF1):c.1475T>C (p.Val492Ala)
|
|
|
NM_002880.4(RAF1):c.1483C>T (p.Arg495Cys)
|
|
|
NM_002880.4(RAF1):c.1488G>C (p.Trp496Cys)
|
rs2125325948
|
|
NM_002880.4(RAF1):c.1488G>T (p.Trp496Cys)
|
|
|
NM_002880.4(RAF1):c.1505T>C (p.Val502Ala)
|
rs2125325738
|
|
NM_002880.4(RAF1):c.1513C>T (p.Pro505Ser)
|
rs758684190
|
|
NM_002880.4(RAF1):c.1517C>T (p.Thr506Ile)
|
rs1315751104
|
|
NM_002880.4(RAF1):c.151C>G (p.Pro51Ala)
|
|
|
NM_002880.4(RAF1):c.1529T>C (p.Leu510Pro)
|
|
|
NM_002880.4(RAF1):c.1536+3G>A
|
|
|
NM_002880.4(RAF1):c.1536G>A (p.Met512Ile)
|
|
|
NM_002880.4(RAF1):c.1537-32_1537-8dup
|
|
|
NM_002880.4(RAF1):c.1551C>G (p.Ile517Met)
|
|
|
NM_002880.4(RAF1):c.1552C>T (p.Arg518Ter)
|
rs2125322976
|
|
NM_002880.4(RAF1):c.1556T>G (p.Met519Arg)
|
rs1553609996
|
|
NM_002880.4(RAF1):c.1561G>C (p.Asp521His)
|
rs2125322844
|
|
NM_002880.4(RAF1):c.1564A>G (p.Asn522Asp)
|
|
|
NM_002880.4(RAF1):c.1564AAC[1] (p.Asn523del)
|
|
|
NM_002880.4(RAF1):c.1566C>G (p.Asn522Lys)
|
|
|
NM_002880.4(RAF1):c.1568A>G (p.Asn523Ser)
|
|
|
NM_002880.4(RAF1):c.1575C>G (p.Phe525Leu)
|
|
|
NM_002880.4(RAF1):c.1598_1600del (p.Ser533del)
|
|
|
NM_002880.4(RAF1):c.1609G>A (p.Val537Ile)
|
rs751232720
|
|
NM_002880.4(RAF1):c.1613T>C (p.Leu538Ser)
|
rs730881011
|
|
NM_002880.4(RAF1):c.1616A>G (p.Tyr539Cys)
|
|
|
NM_002880.4(RAF1):c.161C>A (p.Thr54Lys)
|
rs754798801
|
|
NM_002880.4(RAF1):c.1621C>A (p.Leu541Met)
|
|
|
NM_002880.4(RAF1):c.1635_1636delinsAA (p.Leu546Ile)
|
|
|
NM_002880.4(RAF1):c.1652T>A (p.Ile551Asn)
|
rs2058289374
|
|
NM_002880.4(RAF1):c.1655A>C (p.Asn552Thr)
|
|
|
NM_002880.4(RAF1):c.1655A>G (p.Asn552Ser)
|
rs775817988
|
|
NM_002880.4(RAF1):c.1658A>G (p.Asn553Ser)
|
rs1411490030
|
|
NM_002880.4(RAF1):c.1660C>T (p.Arg554Ter)
|
rs925151637
|
|
NM_002880.4(RAF1):c.1666C>G (p.Gln556Glu)
|
|
|
NM_002880.4(RAF1):c.1667A>G (p.Gln556Arg)
|
rs774558798
|
|
NM_002880.4(RAF1):c.1668+1G>A
|
rs112252613
|
|
NM_002880.4(RAF1):c.1668+20A>T
|
rs2125321294
|
|
NM_002880.4(RAF1):c.1668+3_1668+4dup
|
|
|
NM_002880.4(RAF1):c.1669-19_1672dup
|
rs2125320099
|
|
NM_002880.4(RAF1):c.1690G>A (p.Gly564Arg)
|
rs1553609909
|
|
NM_002880.4(RAF1):c.1694A>G (p.Tyr565Cys)
|
rs1575530552
|
|
NM_002880.4(RAF1):c.169A>G (p.Thr57Ala)
|
|
|
NM_002880.4(RAF1):c.16G>A (p.Gly6Arg)
|
rs1575600689
|
|
NM_002880.4(RAF1):c.1706_1712dup (p.Ser571delinsArgSerTer)
|
rs2058277475
|
|
NM_002880.4(RAF1):c.1725G>C (p.Lys575Asn)
|
|
|
NM_002880.4(RAF1):c.1738G>T (p.Ala580Ser)
|
|
|
NM_002880.4(RAF1):c.1746G>C (p.Lys582Asn)
|
rs2058276038
|
|
NM_002880.4(RAF1):c.1765_1767del (p.Val589del)
|
rs2125319431
|
|
NM_002880.4(RAF1):c.176G>A (p.Arg59His)
|
rs1559447623
|
|
NM_002880.4(RAF1):c.1770G>C (p.Lys590Asn)
|
rs773583951
|
|
NM_002880.4(RAF1):c.1784A>C (p.Glu595Ala)
|
rs2125319319
|
|
NM_002880.4(RAF1):c.1799C>G (p.Pro600Arg)
|
|
|
NM_002880.4(RAF1):c.1803+6G>C
|
rs1553609870
|
|
NM_002880.4(RAF1):c.1811C>T (p.Ser604Phe)
|
|
|
NM_002880.4(RAF1):c.1822C>G (p.Leu608Val)
|
|
|
NM_002880.4(RAF1):c.1832A>C (p.His611Pro)
|
rs2058261337
|
|
NM_002880.4(RAF1):c.1834T>A (p.Ser612Thr)
|
|
|
NM_002880.4(RAF1):c.1837_1838del (p.Leu613fs)
|
rs2125316977
|
|
NM_002880.4(RAF1):c.183C>G (p.Phe61Leu)
|
|
|
NM_002880.4(RAF1):c.1841C>T (p.Pro614Leu)
|
|
|
NM_002880.4(RAF1):c.1850A>C (p.Asn617Thr)
|
|
|
NM_002880.4(RAF1):c.1850A>T (p.Asn617Ile)
|
|
|
NM_002880.4(RAF1):c.1858G>A (p.Ala620Thr)
|
rs865905076
|
|
NM_002880.4(RAF1):c.1867C>T (p.Pro623Ser)
|
rs373596121
|
|
NM_002880.4(RAF1):c.1871C>G (p.Ser624Cys)
|
rs1057524239
|
|
NM_002880.4(RAF1):c.1880G>A (p.Arg627Gln)
|
rs730881006
|
|
NM_002880.4(RAF1):c.1886C>G (p.Ala629Gly)
|
rs1228678241
|
|
NM_002880.4(RAF1):c.188C>T (p.Pro63Leu)
|
|
|
NM_002880.4(RAF1):c.1891A>G (p.Thr631Ala)
|
|
|
NM_002880.4(RAF1):c.1894G>A (p.Glu632Lys)
|
|
|
NM_002880.4(RAF1):c.1898A>G (p.Asp633Gly)
|
|
|
NM_002880.4(RAF1):c.191A>G (p.Asn64Ser)
|
|
|
NM_002880.4(RAF1):c.1922C>G (p.Thr641Arg)
|
rs587777587
|
|
NM_002880.4(RAF1):c.1936C>T (p.Pro646Ser)
|
rs1060503152
|
|
NM_002880.4(RAF1):c.1943T>C (p.Phe648Ser)
|
rs760591831
|
|
NM_002880.4(RAF1):c.1A>G (p.Met1Val)
|
rs2125453796
|
|
NM_002880.4(RAF1):c.208-6_208-3del
|
rs2125431643
|
|
NM_002880.4(RAF1):c.20C>G (p.Ala7Gly)
|
rs200365094
|
|
NM_002880.4(RAF1):c.212A>T (p.Asn71Ile)
|
rs184022679
|
|
NM_002880.4(RAF1):c.218G>A (p.Arg73Gln)
|
rs140884322
|
|
NM_002880.4(RAF1):c.21T>C (p.Ala7=)
|
rs886057915
|
|
NM_002880.4(RAF1):c.226A>G (p.Met76Val)
|
rs730880999
|
|
NM_002880.4(RAF1):c.227T>C (p.Met76Thr)
|
rs2125431362
|
|
NM_002880.4(RAF1):c.228G>A (p.Met76Ile)
|
rs2125431347
|
|
NM_002880.4(RAF1):c.231C>T (p.Ser77=)
|
rs1450510914
|
|
NM_002880.4(RAF1):c.245T>C (p.Leu82Pro)
|
rs2125431096
|
|
NM_002880.4(RAF1):c.260A>G (p.Lys87Arg)
|
rs763666757
|
|
NM_002880.4(RAF1):c.264G>A (p.Val88=)
|
rs1189963978
|
|
NM_002880.4(RAF1):c.276A>T (p.Gln92His)
|
|
|
NM_002880.4(RAF1):c.277C>T (p.Pro93Ser)
|
rs771199974
|
|
NM_002880.4(RAF1):c.278C>T (p.Pro93Leu)
|
rs1559438381
|
|
NM_002880.4(RAF1):c.294_295dup (p.Phe99fs)
|
|
|
NM_002880.4(RAF1):c.309C>G (p.His103Gln)
|
rs1057520880
|
|
NM_002880.4(RAF1):c.310G>A (p.Glu104Lys)
|
|
|
NM_002880.4(RAF1):c.312A>C (p.Glu104Asp)
|
|
|
NM_002880.4(RAF1):c.320+6A>T
|
|
|
NM_002880.4(RAF1):c.321-3T>C
|
|
|
NM_002880.4(RAF1):c.325_327del (p.Lys109del)
|
rs1418886913
|
|
NM_002880.4(RAF1):c.327dup (p.Ala110fs)
|
rs1418886913
|
|
NM_002880.4(RAF1):c.332G>A (p.Arg111His)
|
rs996417348
|
|
NM_002880.4(RAF1):c.34A>G (p.Ser12Gly)
|
rs2125453642
|
|
NM_002880.4(RAF1):c.353C>T (p.Ala118Val)
|
|
|
NM_002880.4(RAF1):c.356C>T (p.Ala119Val)
|
rs1398525119
|
|
NM_002880.4(RAF1):c.370G>A (p.Glu124Lys)
|
rs1060503153
|
|
NM_002880.4(RAF1):c.377T>C (p.Leu126Pro)
|
|
|
NM_002880.4(RAF1):c.379C>T (p.Gln127Ter)
|
rs397516820
|
|
NM_002880.4(RAF1):c.37A>G (p.Asn13Asp)
|
|
|
NM_002880.4(RAF1):c.388T>A (p.Phe130Ile)
|
rs397516821
|
|
NM_002880.4(RAF1):c.418A>T (p.Asn140Tyr)
|
|
|
NM_002880.4(RAF1):c.419A>G (p.Asn140Ser)
|
rs876657968
|
|
NM_002880.4(RAF1):c.420C>G (p.Asn140Lys)
|
rs775525868
|
|
NM_002880.4(RAF1):c.422T>C (p.Phe141Ser)
|
rs2059135125
|
|
NM_002880.4(RAF1):c.423+12A>T
|
rs1055790600
|
|
NM_002880.4(RAF1):c.423T>C (p.Phe141=)
|
rs2059134982
|
|
NM_002880.4(RAF1):c.427C>G (p.Arg143Gly)
|
|
|
NM_002880.4(RAF1):c.437T>C (p.Phe146Ser)
|
rs2125417098
|
|
NM_002880.4(RAF1):c.438C>A (p.Phe146Leu)
|
rs794727717
|
|
NM_002880.4(RAF1):c.445C>T (p.Leu149Phe)
|
rs1559433480
|
|
NM_002880.4(RAF1):c.452T>C (p.Phe151Ser)
|
rs587782971
|
|
NM_002880.4(RAF1):c.453C>A (p.Phe151Leu)
|
rs2125416996
|
|
NM_002880.4(RAF1):c.457G>C (p.Asp153His)
|
rs2059121734
|
|
NM_002880.4(RAF1):c.460A>G (p.Ile154Val)
|
|
|
NM_002880.4(RAF1):c.465T>G (p.Cys155Trp)
|
rs2059121538
|
|
NM_002880.4(RAF1):c.475C>A (p.Leu159Met)
|
|
|
NM_002880.4(RAF1):c.478C>T (p.Leu160Phe)
|
|
|
NM_002880.4(RAF1):c.491G>A (p.Arg164Gln)
|
|
|
NM_002880.4(RAF1):c.492A>G (p.Arg164=)
|
rs2059120434
|
|
NM_002880.4(RAF1):c.512A>G (p.Lys171Arg)
|
rs876657969
|
|
NM_002880.4(RAF1):c.524A>G (p.His175Arg)
|
rs397516822
|
|
NM_002880.4(RAF1):c.533C>G (p.Thr178Ser)
|
rs1232843195
|
|
NM_002880.4(RAF1):c.537A>G (p.Lys179=)
|
rs1575582733
|
|
NM_002880.4(RAF1):c.545C>T (p.Thr182Ile)
|
|
|
NM_002880.4(RAF1):c.553G>T (p.Val185Leu)
|
|
|
NM_002880.4(RAF1):c.556G>A (p.Asp186Asn)
|
rs2125416501
|
|
NM_002880.4(RAF1):c.567C>A (p.Asn189Lys)
|
rs2125416422
|
|
NM_002880.4(RAF1):c.580T>A (p.Leu194Ile)
|
|
|
NM_002880.4(RAF1):c.589C>A (p.Pro197Thr)
|
rs563575013
|
|
NM_002880.4(RAF1):c.592A>G (p.Asn198Asp)
|
|
|
NM_002880.4(RAF1):c.602T>C (p.Ile201Thr)
|
rs369852728
|
|
NM_002880.4(RAF1):c.604G>A (p.Gly202Ser)
|
|
|
NM_002880.4(RAF1):c.608A>G (p.Asp203Gly)
|
|
|
NM_002880.4(RAF1):c.616G>A (p.Val206Ile)
|
rs2059026071
|
|
NM_002880.4(RAF1):c.623C>A (p.Ala208Glu)
|
|
|
NM_002880.4(RAF1):c.62T>C (p.Val21Ala)
|
rs1306287046
|
|
NM_002880.4(RAF1):c.638C>T (p.Thr213Ile)
|
|
|
NM_002880.4(RAF1):c.643C>T (p.Arg215Cys)
|
rs773051648
|
|
NM_002880.4(RAF1):c.646C>T (p.Arg216Cys)
|
rs2125406604
|
|
NM_002880.4(RAF1):c.647G>A (p.Arg216His)
|
rs761703202
|
|
NM_002880.4(RAF1):c.655G>C (p.Glu219Gln)
|
rs2059024431
|
|
NM_002880.4(RAF1):c.656A>T (p.Glu219Val)
|
|
|
NM_002880.4(RAF1):c.659C>A (p.Ser220Tyr)
|
rs997988758
|
|
NM_002880.4(RAF1):c.659_660del (p.Ser220fs)
|
rs1575577384
|
|
NM_002880.4(RAF1):c.65T>G (p.Phe22Cys)
|
rs2125453485
|
|
NM_002880.4(RAF1):c.672G>T (p.Met224Ile)
|
rs1553614191
|
|
NM_002880.4(RAF1):c.673C>G (p.Pro225Ala)
|
|
|
NM_002880.4(RAF1):c.681T>C (p.Ser227=)
|
|
|
NM_002880.4(RAF1):c.683C>T (p.Ser228Phe)
|
|
|
NM_002880.4(RAF1):c.687_707dup (p.Pro235_His236insGlnHisArgTyrSerThrPro)
|
|
|
NM_002880.4(RAF1):c.68_70del (p.Asp23del)
|
rs749549707
|
|
NM_002880.4(RAF1):c.700A>G (p.Thr234Ala)
|
|
|
NM_002880.4(RAF1):c.727T>C (p.Ser243Pro)
|
|
|
NM_002880.4(RAF1):c.728C>G (p.Ser243Cys)
|
rs1575573477
|
|
NM_002880.4(RAF1):c.730A>C (p.Ser244Arg)
|
|
|
NM_002880.4(RAF1):c.741T>A (p.Ser247=)
|
|
|
NM_002880.4(RAF1):c.746G>T (p.Gly249Val)
|
rs1559426289
|
|
NM_002880.4(RAF1):c.751C>G (p.Leu251Val)
|
|
|
NM_002880.4(RAF1):c.752T>A (p.Leu251His)
|
rs1553613787
|
|
NM_002880.4(RAF1):c.752T>G (p.Leu251Arg)
|
|
|
NM_002880.4(RAF1):c.758A>C (p.Gln253Pro)
|
|
|
NM_002880.4(RAF1):c.766A>G (p.Arg256Gly)
|
rs397516825
|
|
NM_002880.4(RAF1):c.767G>C (p.Arg256Thr)
|
|
|
NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr)
|
rs397516827
|
|
NM_002880.4(RAF1):c.779C>T (p.Thr260Ile)
|
rs869025501
|
|
NM_002880.4(RAF1):c.790C>G (p.His264Asp)
|
|
|
NM_002880.4(RAF1):c.791A>G (p.His264Arg)
|
rs1057517887
|
|
NM_002880.4(RAF1):c.797T>G (p.Val266Gly)
|
rs2058951671
|
|
NM_002880.4(RAF1):c.803C>G (p.Thr268Ser)
|
rs2125397288
|
|
NM_002880.4(RAF1):c.811C>A (p.Pro271Thr)
|
rs1458313379
|
|
NM_002880.4(RAF1):c.826A>G (p.Met276Val)
|
rs1189618862
|
|
NM_002880.4(RAF1):c.830T>G (p.Ile277Ser)
|
rs1559425852
|
|
NM_002880.4(RAF1):c.834+4A>C
|
rs2058950056
|
|
NM_002880.4(RAF1):c.837T>A (p.Asp279Glu)
|
rs2125381916
|
|
NM_002880.4(RAF1):c.843T>A (p.Ile281=)
|
rs2058826353
|
|
NM_002880.4(RAF1):c.848G>A (p.Ser283Asn)
|
rs1575565653
|
|
NM_002880.4(RAF1):c.850C>T (p.His284Tyr)
|
|
|
NM_002880.4(RAF1):c.856G>A (p.Glu286Lys)
|
rs147453956
|
|
NM_002880.4(RAF1):c.862+4C>A
|
|
|
NM_002880.4(RAF1):c.866C>T (p.Ser289Leu)
|
|
|
NM_002880.4(RAF1):c.869C>A (p.Pro290His)
|
rs2058820862
|
|
NM_002880.4(RAF1):c.874G>A (p.Ala292Thr)
|
|
|
NM_002880.4(RAF1):c.885T>G (p.Ser295Arg)
|
|
|
NM_002880.4(RAF1):c.890C>G (p.Pro297Arg)
|
|
|
NM_002880.4(RAF1):c.892A>C (p.Asn298His)
|
rs878854567
|
|
NM_002880.4(RAF1):c.895A>G (p.Asn299Asp)
|
|
|
NM_002880.4(RAF1):c.896A>G (p.Asn299Ser)
|
|
|
NM_002880.4(RAF1):c.89C>A (p.Pro30His)
|
|
|
NM_002880.4(RAF1):c.908C>T (p.Thr303Ile)
|
|
|
NM_002880.4(RAF1):c.91A>G (p.Thr31Ala)
|
rs1486365900
|
|
NM_002880.4(RAF1):c.922C>T (p.Pro308Ser)
|
|
|
NM_002880.4(RAF1):c.929C>T (p.Thr310Ile)
|
|
|
NM_002880.4(RAF1):c.930_941del (p.Pro311_Ala314del)
|
|
|
NM_002880.4(RAF1):c.937C>A (p.Pro313Thr)
|
|
|
NM_002880.4(RAF1):c.945_946del (p.Glu317fs)
|
rs2125380363
|
|
NM_002880.4(RAF1):c.947G>A (p.Arg316Lys)
|
|
|
NM_002880.4(RAF1):c.949_950delinsCT (p.Glu317Leu)
|
|
|
NM_002880.4(RAF1):c.958C>T (p.Pro320Ser)
|
rs1406867543
|
|
NM_002880.4(RAF1):c.959C>T (p.Pro320Leu)
|
rs2058815076
|
|
NM_002880.4(RAF1):c.964T>C (p.Ser322Pro)
|
rs2125380223
|
|
NM_002880.4(RAF1):c.97G>A (p.Val33Ile)
|
rs1575600440
|
|
NM_002880.4(RAF1):c.988A>G (p.Ile330Val)
|
|
|
NM_002880.4(RAF1):c.989T>C (p.Ile330Thr)
|
|
|
NM_002880.4(RAF1):c.994C>G (p.Pro332Ala)
|
rs1057403865
|
|
NM_002880.4(RAF1):c.997C>G (p.Arg333Gly)
|
rs551466727
|
|
NM_002880.4(RAF1):c.998G>T (p.Arg333Leu)
|
rs755384884
|
|
NM_004333.6(BRAF):c.*143A>G
|
rs1585929994
|
|
NM_004333.6(BRAF):c.*203A>G
|
rs1796208696
|
|
NM_004333.6(BRAF):c.1004C>T (p.Ser335Phe)
|
|
|
NM_004333.6(BRAF):c.1012A>G (p.Lys338Glu)
|
|
|
NM_004333.6(BRAF):c.1021C>G (p.Pro341Ala)
|
|
|
NM_004333.6(BRAF):c.1022C>A (p.Pro341Gln)
|
rs863224722
|
|
NM_004333.6(BRAF):c.1028C>T (p.Pro343Leu)
|
|
|
NM_004333.6(BRAF):c.103G>A (p.Ala35Thr)
|
rs1818660367
|
|
NM_004333.6(BRAF):c.1040G>A (p.Arg347Gln)
|
|
|
NM_004333.6(BRAF):c.104C>A (p.Ala35Asp)
|
|
|
NM_004333.6(BRAF):c.1051G>C (p.Glu351Gln)
|
rs2129038019
|
|
NM_004333.6(BRAF):c.1056T>A (p.Asp352Glu)
|
rs1398817791
|
|
NM_004333.6(BRAF):c.1058A>G (p.His353Arg)
|
rs1802306841
|
|
NM_004333.6(BRAF):c.1066C>G (p.Gln356Glu)
|
rs151308995
|
|
NM_004333.6(BRAF):c.1076A>G (p.Gln359Arg)
|
|
|
NM_004333.6(BRAF):c.1085G>T (p.Arg362Leu)
|
|
|
NM_004333.6(BRAF):c.1087T>G (p.Ser363Ala)
|
|
|
NM_004333.6(BRAF):c.1103A>G (p.Asn368Ser)
|
rs1802300066
|
|
NM_004333.6(BRAF):c.1117A>G (p.Thr373Ala)
|
|
|
NM_004333.6(BRAF):c.1120A>G (p.Ile374Val)
|
rs397507471
|
|
NM_004333.6(BRAF):c.1133A>G (p.Asn378Ser)
|
rs1278451495
|
|
NM_004333.6(BRAF):c.1146G>C (p.Leu382Phe)
|
rs1801519948
|
|
NM_004333.6(BRAF):c.1157A>G (p.Gln386Arg)
|
rs1554401118
|
|
NM_004333.6(BRAF):c.1177G>A (p.Gly393Arg)
|
rs748393685
|
|
NM_004333.6(BRAF):c.1178-3T>C
|
|
|
NM_004333.6(BRAF):c.1189G>T (p.Gly397Cys)
|
rs760702929
|
|
NM_004333.6(BRAF):c.1190G>A (p.Gly397Asp)
|
rs1554400237
|
|
NM_004333.6(BRAF):c.1196C>T (p.Ser399Phe)
|
rs1554400234
|
|
NM_004333.6(BRAF):c.1201A>G (p.Thr401Ala)
|
|
|
NM_004333.6(BRAF):c.1205C>A (p.Pro402His)
|
rs199927105
|
|
NM_004333.6(BRAF):c.1205C>G (p.Pro402Arg)
|
rs199927105
|
|
NM_004333.6(BRAF):c.1205C>T (p.Pro402Leu)
|
rs199927105
|
|
NM_004333.6(BRAF):c.1207C>G (p.Pro403Ala)
|
rs749792302
|
|
NM_004333.6(BRAF):c.1208del (p.Pro403fs)
|
|
|
NM_004333.6(BRAF):c.1218A>C (p.Leu406Phe)
|
rs1801035219
|
|
NM_004333.6(BRAF):c.1219C>A (p.Pro407Thr)
|
|
|
NM_004333.6(BRAF):c.1244C>G (p.Ala415Gly)
|
|
|
NM_004333.6(BRAF):c.1247T>C (p.Leu416Ser)
|
rs780915629
|
|
NM_004333.6(BRAF):c.124G>T (p.Ala42Ser)
|
rs2129153151
|
|
NM_004333.6(BRAF):c.1250A>G (p.Gln417Arg)
|
|
|
NM_004333.6(BRAF):c.1259C>G (p.Pro420Arg)
|
|
|
NM_004333.6(BRAF):c.125C>T (p.Ala42Val)
|
|
|
NM_004333.6(BRAF):c.1262G>C (p.Gly421Ala)
|
|
|
NM_004333.6(BRAF):c.1264C>T (p.Pro422Ser)
|
|
|
NM_004333.6(BRAF):c.1288T>G (p.Ser430Ala)
|
|
|
NM_004333.6(BRAF):c.1310G>A (p.Arg437Gln)
|
rs998233805
|
|
NM_004333.6(BRAF):c.1314+1G>T
|
|
|
NM_004333.6(BRAF):c.1314+4A>G
|
|
|
NM_004333.6(BRAF):c.1315-13_1315-12delinsCT
|
|
|
NM_004333.6(BRAF):c.1317A>G (p.Lys439=)
|
rs569455230
|
|
NM_004333.6(BRAF):c.1331G>A (p.Arg444Gln)
|
rs1800890866
|
|
NM_004333.6(BRAF):c.1354A>C (p.Ile452Leu)
|
|
|
NM_004333.6(BRAF):c.1364G>A (p.Gly455Glu)
|
|
|
NM_004333.6(BRAF):c.1379G>A (p.Gly460Glu)
|
|
|
NM_004333.6(BRAF):c.138+3G>A
|
rs1554430994
|
|
NM_004333.6(BRAF):c.138+4A>G
|
|
|
NM_004333.6(BRAF):c.138+6_138+11del
|
|
|
NM_004333.6(BRAF):c.1382A>G (p.Gln461Arg)
|
rs1554399925
|
|
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu)
|
rs121913348
|
|
NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu)
|
rs121913351
|
|
NM_004333.6(BRAF):c.1400C>T (p.Ser467Leu)
|
|
|
NM_004333.6(BRAF):c.1418A>G (p.Lys473Arg)
|
|
|
NM_004333.6(BRAF):c.1431T>C (p.His477=)
|
|
|
NM_004333.6(BRAF):c.1432+8T>A
|
|
|
NM_004333.6(BRAF):c.1441G>A (p.Ala481Thr)
|
|
|
NM_004333.6(BRAF):c.1447A>G (p.Lys483Glu)
|
rs397507474
|
|
NM_004333.6(BRAF):c.1448A>C (p.Lys483Thr)
|
rs1586126581
|
|
NM_004333.6(BRAF):c.1448A>G (p.Lys483Arg)
|
rs1586126581
|
|
NM_004333.6(BRAF):c.1452G>T (p.Met484Ile)
|
rs759901913
|
|
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe)
|
rs180177036
|
|
NM_004333.6(BRAF):c.1489G>A (p.Ala497Thr)
|
rs2129019555
|
|
NM_004333.6(BRAF):c.1495A>C (p.Lys499Gln)
|
rs180177037
|
|
NM_004333.6(BRAF):c.1502A>C (p.Glu501Ala)
|
rs180177039
|
|
NM_004333.6(BRAF):c.1513C>T (p.Leu505Phe)
|
rs397507477
|
|
NM_004333.6(BRAF):c.1517+5G>A
|
|
|
NM_004333.6(BRAF):c.1517+6C>T
|
|
|
NM_004333.6(BRAF):c.1518-3C>T
|
rs1265714510
|
|
NM_004333.6(BRAF):c.1561A>G (p.Thr521Ala)
|
|
|
NM_004333.6(BRAF):c.1569A>G (p.Pro523=)
|
rs759843625
|
|
NM_004333.6(BRAF):c.157A>G (p.Met53Val)
|
|
|
NM_004333.6(BRAF):c.1582G>C (p.Val528Leu)
|
rs2129018438
|
|
NM_004333.6(BRAF):c.15CGGTGG[3] (p.Gly10_Gly11dup)
|
rs1466749878
|
|
NM_004333.6(BRAF):c.160A>G (p.Ile54Val)
|
|
|
NM_004333.6(BRAF):c.1615C>A (p.His539Asn)
|
rs2129018348
|
|
NM_004333.6(BRAF):c.1621C>T (p.Leu541Phe)
|
rs1800393052
|
|
NM_004333.6(BRAF):c.1630A>G (p.Ile544Val)
|
|
|
NM_004333.6(BRAF):c.1631T>C (p.Ile544Thr)
|
|
|
NM_004333.6(BRAF):c.1642T>C (p.Phe548Leu)
|
rs768303459
|
|
NM_004333.6(BRAF):c.1643T>C (p.Phe548Ser)
|
rs1562954580
|
|
NM_004333.6(BRAF):c.1661T>C (p.Ile554Thr)
|
rs878854675
|
|
NM_004333.6(BRAF):c.1662A>G (p.Ile554Met)
|
rs2129018241
|
|
NM_004333.6(BRAF):c.1672C>T (p.Arg558Ter)
|
|
|
NM_004333.6(BRAF):c.1699T>G (p.Leu567Val)
|
|
|
NM_004333.6(BRAF):c.1714A>G (p.Ile572Val)
|
rs755214031
|
|
NM_004333.6(BRAF):c.1722C>G (p.His574Gln)
|
rs397507481
|
|
NM_004333.6(BRAF):c.1740T>C (p.Asn580=)
|
|
|
NM_004333.6(BRAF):c.1741+8T>C
|
|
|
NM_004333.6(BRAF):c.1741A>C (p.Asn581His)
|
rs180177040
|
|
NM_004333.6(BRAF):c.1742-10T>G
|
rs730880411
|
|
NM_004333.6(BRAF):c.1742-7A>C
|
|
|
NM_004333.6(BRAF):c.1742A>T (p.Asn581Ile)
|
|
|
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)
|
rs121913338
|
|
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val)
|
rs121913338
|
|
NM_004333.6(BRAF):c.1786G>T (p.Gly596Cys)
|
rs121913361
|
|
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile)
|
rs121913375
|
|
NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn)
|
rs121913365
|
|
NM_004333.6(BRAF):c.1807C>T (p.Arg603Ter)
|
rs104886015
|
|
NM_004333.6(BRAF):c.1820C>T (p.Ser607Phe)
|
rs1255101216
|
|
NM_004333.6(BRAF):c.1858A>G (p.Met620Val)
|
rs1296245849
|
|
NM_004333.6(BRAF):c.1860+5G>A
|
|
|
NM_004333.6(BRAF):c.1861-3C>T
|
|
|
NM_004333.6(BRAF):c.1861G>T (p.Ala621Ser)
|
rs2128994651
|
|
NM_004333.6(BRAF):c.1864C>T (p.Pro622Ser)
|
|
|
NM_004333.6(BRAF):c.1870G>A (p.Val624Ile)
|
rs781330698
|
|
NM_004333.6(BRAF):c.187G>A (p.Ala63Thr)
|
|
|
NM_004333.6(BRAF):c.1897T>C (p.Tyr633His)
|
rs746010267
|
|
NM_004333.6(BRAF):c.1898A>G (p.Tyr633Cys)
|
rs1797603824
|
|
NM_004333.6(BRAF):c.1910C>T (p.Ser637Leu)
|
|
|
NM_004333.6(BRAF):c.1915G>A (p.Val639Ile)
|
|
|
NM_004333.6(BRAF):c.1936C>G (p.Leu646Val)
|
|
|
NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys)
|
rs1562939198
|
|
NM_004333.6(BRAF):c.1943A>G (p.Glu648Gly)
|
rs1797600118
|
|
NM_004333.6(BRAF):c.1950G>C (p.Met650Ile)
|
rs879255380
|
|
NM_004333.6(BRAF):c.1958A>T (p.Gln653Leu)
|
|
|
NM_004333.6(BRAF):c.1959G>T (p.Gln653His)
|
rs1797598919
|
|
NM_004333.6(BRAF):c.1979A>G (p.Asn660Ser)
|
rs2128994317
|
|
NM_004333.6(BRAF):c.1980C>G (p.Asn660Lys)
|
|
|
NM_004333.6(BRAF):c.1992+3A>G
|
rs1797595959
|
|
NM_004333.6(BRAF):c.1993A>G (p.Ile665Val)
|
|
|
NM_004333.6(BRAF):c.2004G>C (p.Met668Ile)
|
|
|
NM_004333.6(BRAF):c.2039A>G (p.Lys680Arg)
|
|
|
NM_004333.6(BRAF):c.2044C>T (p.Arg682Trp)
|
|
|
NM_004333.6(BRAF):c.205G>A (p.Gly69Ser)
|
|
|
NM_004333.6(BRAF):c.2065A>G (p.Met689Val)
|
|
|
NM_004333.6(BRAF):c.206G>C (p.Gly69Ala)
|
rs1554412417
|
|
NM_004333.6(BRAF):c.2075T>C (p.Leu692Ser)
|
|
|
NM_004333.6(BRAF):c.2077_2078dup (p.Met693fs)
|
|
|
NM_004333.6(BRAF):c.2078T>C (p.Met693Thr)
|
rs766692331
|
|
NM_004333.6(BRAF):c.2084A>G (p.Glu695Gly)
|
|
|
NM_004333.6(BRAF):c.2087G>A (p.Cys696Tyr)
|
|
|
NM_004333.6(BRAF):c.2125C>A (p.Gln709Lys)
|
rs1554389828
|
|
NM_004333.6(BRAF):c.2128-16_2128-15del
|
rs886062015
|
|
NM_004333.6(BRAF):c.2128-27_2128-16delinsTCT
|
rs886062016
|
|
NM_004333.6(BRAF):c.2128-27_2128-8del
|
|
|
NM_004333.6(BRAF):c.2128-28dup
|
rs60814637
|
|
NM_004333.6(BRAF):c.2128-4del
|
rs886062014
|
|
NM_004333.6(BRAF):c.2128-5dup
|
rs373442098
|
|
NM_004333.6(BRAF):c.2134G>A (p.Ala712Thr)
|
rs1481562268
|
|
NM_004333.6(BRAF):c.2134G>T (p.Ala712Ser)
|
|
|
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp)
|
rs727502904
|
|
NM_004333.6(BRAF):c.2155C>T (p.Arg719Cys)
|
rs397507487
|
|
NM_004333.6(BRAF):c.2161T>G (p.Leu721Val)
|
|
|
NM_004333.6(BRAF):c.2176C>T (p.Arg726Cys)
|
|
|
NM_004333.6(BRAF):c.2195C>T (p.Ser732Phe)
|
|
|
NM_004333.6(BRAF):c.2203C>T (p.Arg735Trp)
|
rs2130868602
|
|
NM_004333.6(BRAF):c.2204G>A (p.Arg735Gln)
|
|
|
NM_004333.6(BRAF):c.2213T>G (p.Phe738Cys)
|
|
|
NM_004333.6(BRAF):c.221C>T (p.Pro74Leu)
|
|
|
NM_004333.6(BRAF):c.2231G>A (p.Ser744Asn)
|
|
|
NM_004333.6(BRAF):c.2263A>G (p.Ile755Val)
|
|
|
NM_004333.6(BRAF):c.2276del (p.Gly759fs)
|
|
|
NM_004333.6(BRAF):c.2285C>T (p.Ala762Val)
|
|
|
NM_004333.6(BRAF):c.2291C>T (p.Pro764Leu)
|
rs139420557
|
|
NM_004333.6(BRAF):c.2293G>C (p.Val765Leu)
|
rs1217309134
|
|
NM_004333.6(BRAF):c.2296C>T (p.His766Tyr)
|
|
|
NM_004333.6(BRAF):c.2296_2298del (p.His766del)
|
|
|
NM_004333.6(BRAF):c.22G>T (p.Gly8Cys)
|
|
|
NM_004333.6(BRAF):c.231A>G (p.Ile77Met)
|
|
|
NM_004333.6(BRAF):c.240+2T>C
|
|
|
NM_004333.6(BRAF):c.241-10T>G
|
|
|
NM_004333.6(BRAF):c.242C>T (p.Ala81Val)
|
|
|
NM_004333.6(BRAF):c.245A>G (p.Tyr82Cys)
|
|
|
NM_004333.6(BRAF):c.260G>A (p.Ser87Asn)
|
rs1033856250
|
|
NM_004333.6(BRAF):c.26_34del (p.Gly9_Gly11del)
|
|
|
NM_004333.6(BRAF):c.272C>G (p.Ala91Gly)
|
rs886041256
|
|
NM_004333.6(BRAF):c.279A>T (p.Gln93His)
|
|
|
NM_004333.6(BRAF):c.27_32dup (p.Gly11_Ala12insGlyGly)
|
|
|
NM_004333.6(BRAF):c.302A>G (p.Glu101Gly)
|
|
|
NM_004333.6(BRAF):c.305C>T (p.Ser102Phe)
|
|
|
NM_004333.6(BRAF):c.317G>A (p.Gly106Glu)
|
rs1322163182
|
|
NM_004333.6(BRAF):c.317G>C (p.Gly106Ala)
|
rs1322163182
|
|
NM_004333.6(BRAF):c.319A>C (p.Thr107Pro)
|
rs2129062208
|
|
NM_004333.6(BRAF):c.325T>A (p.Phe109Ile)
|
rs397507460
|
|
NM_004333.6(BRAF):c.329C>G (p.Ser110Cys)
|
|
|
NM_004333.6(BRAF):c.32G>C (p.Gly11Ala)
|
|
|
NM_004333.6(BRAF):c.331G>T (p.Val111Phe)
|
rs1807139980
|
|
NM_004333.6(BRAF):c.346T>G (p.Ser116Ala)
|
|
|
NM_004333.6(BRAF):c.365C>T (p.Ser122Phe)
|
rs397507462
|
|
NM_004333.6(BRAF):c.366TTC[1] (p.Ser127del)
|
|
|
NM_004333.6(BRAF):c.368C>G (p.Ser123Cys)
|
|
|
NM_004333.6(BRAF):c.374C>T (p.Ser125Phe)
|
rs2129062120
|
|
NM_004333.6(BRAF):c.379A>G (p.Ser127Gly)
|
rs543425316
|
|
NM_004333.6(BRAF):c.39G>C (p.Glu13Asp)
|
rs868441785
|
|
NM_004333.6(BRAF):c.416A>G (p.Gln139Arg)
|
|
|
NM_004333.6(BRAF):c.443A>C (p.Asn148Thr)
|
|
|
NM_004333.6(BRAF):c.443A>G (p.Asn148Ser)
|
|
|
NM_004333.6(BRAF):c.469G>A (p.Val157Ile)
|
rs1258111302
|
|
NM_004333.6(BRAF):c.49G>C (p.Ala17Pro)
|
rs1818675668
|
|
NM_004333.6(BRAF):c.509C>T (p.Pro170Leu)
|
|
|
NM_004333.6(BRAF):c.557T>A (p.Met186Lys)
|
|
|
NM_004333.6(BRAF):c.558G>A (p.Met186Ile)
|
rs2129048397
|
|
NM_004333.6(BRAF):c.55T>C (p.Phe19Leu)
|
|
|
NM_004333.6(BRAF):c.563G>C (p.Arg188Thr)
|
rs1803936771
|
|
NM_004333.6(BRAF):c.589G>C (p.Val197Leu)
|
|
|
NM_004333.6(BRAF):c.592T>C (p.Tyr198His)
|
|
|
NM_004333.6(BRAF):c.593A>C (p.Tyr198Ser)
|
|
|
NM_004333.6(BRAF):c.600dup (p.Gln201fs)
|
|
|
NM_004333.6(BRAF):c.609-6T>C
|
|
|
NM_004333.6(BRAF):c.620C>T (p.Pro207Leu)
|
|
|
NM_004333.6(BRAF):c.626G>A (p.Gly209Asp)
|
|
|
NM_004333.6(BRAF):c.647G>C (p.Trp216Ser)
|
|
|
NM_004333.6(BRAF):c.649C>T (p.Leu217Phe)
|
|
|
NM_004333.6(BRAF):c.650T>A (p.Leu217His)
|
|
|
NM_004333.6(BRAF):c.65A>T (p.Asp22Val)
|
rs1414371670
|
|
NM_004333.6(BRAF):c.667C>T (p.His223Tyr)
|
rs2129047895
|
|
NM_004333.6(BRAF):c.66C>G (p.Asp22Glu)
|
|
|
NM_004333.6(BRAF):c.679T>A (p.Leu227Met)
|
|
|
NM_004333.6(BRAF):c.67A>G (p.Met23Val)
|
rs1818671266
|
|
NM_004333.6(BRAF):c.68T>G (p.Met23Arg)
|
|
|
NM_004333.6(BRAF):c.694C>G (p.Leu232Val)
|
|
|
NM_004333.6(BRAF):c.697A>G (p.Thr233Ala)
|
|
|
NM_004333.6(BRAF):c.707A>C (p.Asn236Thr)
|
rs1803829907
|
|
NM_004333.6(BRAF):c.712-221T>C
|
rs1803141356
|
|
NM_004333.6(BRAF):c.71A>C (p.Glu24Ala)
|
|
|
NM_004333.6(BRAF):c.731C>G (p.Thr244Ser)
|
|
|
NM_004333.6(BRAF):c.740T>G (p.Phe247Cys)
|
|
|
NM_004333.6(BRAF):c.754C>G (p.Arg252Gly)
|
|
|
NM_004333.6(BRAF):c.755G>A (p.Arg252Gln)
|
rs1325951163
|
|
NM_004333.6(BRAF):c.755G>C (p.Arg252Pro)
|
rs1325951163
|
|
NM_004333.6(BRAF):c.76G>A (p.Glu26Lys)
|
rs397507457
|
|
NM_004333.6(BRAF):c.779G>A (p.Arg260His)
|
rs1586213318
|
|
NM_004333.6(BRAF):c.77_82dup (p.Ala27_Gly28insGluAla)
|
|
|
NM_004333.6(BRAF):c.789_790del (p.Cys264fs)
|
rs1803104915
|
|
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg)
|
rs397516905
|
|
NM_004333.6(BRAF):c.80C>G (p.Ala27Gly)
|
|
|
NM_004333.6(BRAF):c.80C>T (p.Ala27Val)
|
rs1206505128
|
|
NM_004333.6(BRAF):c.80_88del (p.Ala27_Ala29del)
|
|
|
NM_004333.6(BRAF):c.811C>T (p.Arg271Cys)
|
|
|
NM_004333.6(BRAF):c.81_101del (p.Gly28_Ala34del)
|
|
|
NM_004333.6(BRAF):c.825A>T (p.Glu275Asp)
|
rs1803102591
|
|
NM_004333.6(BRAF):c.82G>T (p.Gly28Cys)
|
rs1437317949
|
|
NM_004333.6(BRAF):c.83GCGCCG[1] (p.28GA[1])
|
rs397507458
|
|
NM_004333.6(BRAF):c.83GCGCCG[2] (p.28GA[2])
|
rs397507458
|
|
NM_004333.6(BRAF):c.83GCGCCG[4] (p.28GA[4])
|
rs397507458
|
|
NM_004333.6(BRAF):c.83GCGCCG[5] (p.28GA[5])
|
rs397507458
|
|
NM_004333.6(BRAF):c.84C>T (p.Gly28=)
|
rs992354585
|
|
NM_004333.6(BRAF):c.861-6T>A
|
|
|
NM_004333.6(BRAF):c.876C>T (p.Ser292=)
|
rs1554403310
|
|
NM_004333.6(BRAF):c.88G>A (p.Gly30Ser)
|
|
|
NM_004333.6(BRAF):c.88G>T (p.Gly30Cys)
|
|
|
NM_004333.6(BRAF):c.898A>C (p.Ile300Leu)
|
|
|
NM_004333.6(BRAF):c.89G>C (p.Gly30Ala)
|
|
|
NM_004333.6(BRAF):c.901C>A (p.Pro301Thr)
|
|
|
NM_004333.6(BRAF):c.907G>C (p.Glu303Gln)
|
rs2129043697
|
|
NM_004333.6(BRAF):c.913G>A (p.Ala305Thr)
|
rs964235659
|
|
NM_004333.6(BRAF):c.92C>T (p.Ala31Val)
|
rs397516906
|
|
NM_004333.6(BRAF):c.934C>G (p.Leu312Val)
|
|
|
NM_004333.6(BRAF):c.940T>A (p.Ser314Thr)
|
|
|
NM_004333.6(BRAF):c.943G>A (p.Gly315Arg)
|
|
|
NM_004333.6(BRAF):c.94G>A (p.Gly32Ser)
|
|
|
NM_004333.6(BRAF):c.950C>G (p.Ser317Cys)
|
|
|
NM_004333.6(BRAF):c.956C>T (p.Ser319Phe)
|
rs886041599
|
|
NM_004333.6(BRAF):c.958G>A (p.Ala320Thr)
|
rs1461617552
|
|
NM_004333.6(BRAF):c.964G>A (p.Ala322Thr)
|
|
|
NM_004333.6(BRAF):c.967T>C (p.Ser323Pro)
|
rs730880414
|
|
NM_004333.6(BRAF):c.976A>C (p.Ile326Leu)
|
|
|
NM_004333.6(BRAF):c.97G>C (p.Ala33Pro)
|
|
|
NM_004333.6(BRAF):c.980+10G>A
|
rs771029578
|
|
NM_004333.6(BRAF):c.980+4T>C
|
|
|
NM_004333.6(BRAF):c.98C>T (p.Ala33Val)
|
rs2129153230
|
|
NM_004985.5(KRAS):c.-14G>C
|
rs1592829132
|
|
NM_004985.5(KRAS):c.-167_-153dup
|
rs1400430419
|
|
NM_004985.5(KRAS):c.-176CGG[4]
|
rs886049200
|
|
NM_004985.5(KRAS):c.136A>G (p.Ile46Val)
|
|
|
NM_004985.5(KRAS):c.164T>G (p.Ile55Ser)
|
rs1951406889
|
|
NM_004985.5(KRAS):c.182A>G (p.Gln61Arg)
|
rs121913240
|
|
NM_004985.5(KRAS):c.183A>C (p.Gln61His)
|
rs17851045
|
|
NM_004985.5(KRAS):c.225G>C (p.Gly75=)
|
|
|
NM_004985.5(KRAS):c.230G>T (p.Gly77Val)
|
|
|
NM_004985.5(KRAS):c.250A>G (p.Ile84Val)
|
rs2141509513
|
|
NM_004985.5(KRAS):c.269T>A (p.Phe90Tyr)
|
|
|
NM_004985.5(KRAS):c.283C>A (p.His95Asn)
|
|
|
NM_004985.5(KRAS):c.324T>G (p.Asp108Glu)
|
rs1264149117
|
|
NM_004985.5(KRAS):c.325G>A (p.Val109Ile)
|
|
|
NM_004985.5(KRAS):c.331A>G (p.Met111Val)
|
|
|
NM_004985.5(KRAS):c.332T>C (p.Met111Thr)
|
rs1951384675
|
|
NM_004985.5(KRAS):c.352T>C (p.Cys118Arg)
|
rs1951384485
|
|
NM_004985.5(KRAS):c.365C>G (p.Ser122Cys)
|
|
|
NM_004985.5(KRAS):c.373G>A (p.Val125Ile)
|
|
|
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile)
|
rs1951383854
|
|
NM_004985.5(KRAS):c.418C>T (p.Pro140Ser)
|
|
|
NM_004985.5(KRAS):c.443C>G (p.Thr148Arg)
|
|
|
NM_004985.5(KRAS):c.450+3A>G
|
|
|
NM_004985.5(KRAS):c.450+5G>A
|
|
|
NM_004985.5(KRAS):c.470A>G (p.Tyr157Cys)
|
rs794727720
|
|
NM_004985.5(KRAS):c.482G>A (p.Arg161Gln)
|
rs2141481655
|
|
NM_004985.5(KRAS):c.508A>T (p.Met170Leu)
|
rs369501492
|
|
NM_004985.5(KRAS):c.510G>C (p.Met170Ile)
|
|
|
NM_004985.5(KRAS):c.519_520inv (p.Gly174Ser)
|
|
|
NM_004985.5(KRAS):c.547A>G (p.Thr183Ala)
|
|
|
NM_004985.5(KRAS):c.548C>A (p.Thr183Lys)
|
|
|
NM_004985.5(KRAS):c.548C>G (p.Thr183Arg)
|
|
|
NM_004985.5(KRAS):c.550_551del (p.Lys184fs)
|
|
|
NM_004985.5(KRAS):c.556G>A (p.Val186Ile)
|
|
|
NM_004985.5(KRAS):c.563T>C (p.Met188Thr)
|
|
|
NM_004985.5(KRAS):c.58A>G (p.Thr20Ala)
|
rs2135806003
|
|
NM_004985.5(KRAS):c.76A>C (p.Asn26His)
|
rs794727277
|
|
NM_004985.5(KRAS):c.98A>G (p.Asp33Gly)
|
|
|
NM_005188.3(CBL):c.-126_-125insTGG
|
rs878976124
|
|
NM_005188.3(CBL):c.-126_-125insTGGCGG
|
rs758396206
|
|
NM_005188.3(CBL):c.-126_-125insTGGCGGCGGCGGCGGCGG
|
rs758396206
|
|
NM_005188.3(CBL):c.-127_-125GGC[12]
|
rs57028199
|
|
NM_005188.3(CBL):c.-127_-125GGC[13]
|
rs57028199
|
|
NM_005188.3(CBL):c.-127_-125GGC[14]
|
rs57028199
|
|
NM_005188.3(CBL):c.-127_-125GGC[15]
|
rs57028199
|
|
NM_005188.3(CBL):c.-127_-125GGC[8]
|
rs57028199
|
|
NM_005188.3(CBL):c.-83C>T
|
rs1592364458
|
|
NM_005188.4(CBL):c.*1661G>T
|
rs886047778
|
|
NM_005188.4(CBL):c.*1711T>C
|
rs886047779
|
|
NM_005188.4(CBL):c.*1712A>G
|
rs955215944
|
|
NM_005188.4(CBL):c.*1732del
|
rs549459958
|
|
NM_005188.4(CBL):c.*2129dup
|
rs886047782
|
|
NM_005188.4(CBL):c.*2137C>T
|
rs886047783
|
|
NM_005188.4(CBL):c.*2762dup
|
rs886047785
|
|
NM_005188.4(CBL):c.*3026C>T
|
rs886047786
|
|
NM_005188.4(CBL):c.*3031A>C
|
rs1950110710
|
|
NM_005188.4(CBL):c.*3106del
|
rs886047787
|
|
NM_005188.4(CBL):c.*3153C>T
|
rs964570263
|
|
NM_005188.4(CBL):c.*3272T>C
|
rs148606028
|
|
NM_005188.4(CBL):c.*3399T>C
|
rs1950113170
|
|
NM_005188.4(CBL):c.*3927G>A
|
rs970587770
|
|
NM_005188.4(CBL):c.*3950T>C
|
rs1950116455
|
|
NM_005188.4(CBL):c.*4390C>G
|
rs886047793
|
|
NM_005188.4(CBL):c.*4667G>A
|
rs886562978
|
|
NM_005188.4(CBL):c.*4716C>G
|
rs1475009534
|
|
NM_005188.4(CBL):c.*4863dup
|
rs572265582
|
|
NM_005188.4(CBL):c.*5006A>G
|
rs1950123628
|
|
NM_005188.4(CBL):c.*5134G>A
|
rs886047798
|
|
NM_005188.4(CBL):c.*5136G>A
|
rs985019007
|
|
NM_005188.4(CBL):c.*559_*560insCAA
|
rs3833768
|
|
NM_005188.4(CBL):c.*560A>T
|
rs202218081
|
|
NM_005188.4(CBL):c.*5637A>C
|
rs748854642
|
|
NM_005188.4(CBL):c.*5771T>A
|
rs886047800
|
|
NM_005188.4(CBL):c.*5860T>C
|
rs886047801
|
|
NM_005188.4(CBL):c.*6362G>A
|
rs886047805
|
|
NM_005188.4(CBL):c.*6429T>C
|
rs1950139475
|
|
NM_005188.4(CBL):c.*6430G>C
|
rs886047806
|
|
NM_005188.4(CBL):c.*660A>G
|
rs1019106598
|
|
NM_005188.4(CBL):c.*6712C>G
|
rs1950142606
|
|
NM_005188.4(CBL):c.*6729C>T
|
rs1950142754
|
|
NM_005188.4(CBL):c.*6872A>T
|
rs1950144572
|
|
NM_005188.4(CBL):c.*6933C>A
|
rs886047807
|
|
NM_005188.4(CBL):c.*7030T>G
|
rs573405123
|
|
NM_005188.4(CBL):c.*7081T>G
|
rs886047809
|
|
NM_005188.4(CBL):c.*7170_*7173del
|
rs112360309
|
|
NM_005188.4(CBL):c.*7173del
|
rs112360309
|
|
NM_005188.4(CBL):c.*7241A>G
|
rs1950148768
|
|
NM_005188.4(CBL):c.*7601G>A
|
rs1489248573
|
|
NM_005188.4(CBL):c.*7659C>A
|
rs567049953
|
|
NM_005188.4(CBL):c.*7659C>G
|
rs567049953
|
|
NM_005188.4(CBL):c.*7659C>T
|
rs567049953
|
|
NM_005188.4(CBL):c.*7689C>G
|
rs187961956
|
|
NM_005188.4(CBL):c.*7855C>T
|
rs1950156118
|
|
NM_005188.4(CBL):c.*7878C>T
|
rs1950156420
|
|
NM_005188.4(CBL):c.*7904G>A
|
rs886047813
|
|
NM_005188.4(CBL):c.*8164_*8167del
|
rs886047814
|
|
NM_005188.4(CBL):c.-125_-116delinsT
|
rs886047763
|
|
NM_005188.4(CBL):c.-41C>T
|
rs751528430
|
|
NM_005188.4(CBL):c.1027C>G (p.Arg343Gly)
|
|
|
NM_005188.4(CBL):c.1033C>G (p.Gln345Glu)
|
rs202095002
|
|
NM_005188.4(CBL):c.1039C>T (p.Pro347Ser)
|
|
|
NM_005188.4(CBL):c.1043A>G (p.Asp348Gly)
|
rs1592400595
|
|
NM_005188.4(CBL):c.1049C>T (p.Thr350Ile)
|
|
|
NM_005188.4(CBL):c.106C>A (p.His36Asn)
|
|
|
NM_005188.4(CBL):c.107ACC[11] (p.His39_His42dup)
|
rs373212940
|
|
NM_005188.4(CBL):c.107ACC[4] (p.His40_His42del)
|
rs373212940
|
|
NM_005188.4(CBL):c.107ACC[5] (p.His41_His42del)
|
|
|
NM_005188.4(CBL):c.107ACC[9] (p.His41_His42dup)
|
rs373212940
|
|
NM_005188.4(CBL):c.1081A>G (p.Ile361Val)
|
|
|
NM_005188.4(CBL):c.1082T>C (p.Ile361Thr)
|
|
|
NM_005188.4(CBL):c.1088T>C (p.Val363Ala)
|
rs1592400621
|
|
NM_005188.4(CBL):c.1088T>G (p.Val363Gly)
|
rs1592400621
|
|
NM_005188.4(CBL):c.108C>G (p.His36Gln)
|
rs748961080
|
|
NM_005188.4(CBL):c.1091C>T (p.Thr364Ile)
|
rs2135303015
|
|
NM_005188.4(CBL):c.1095+18_1095+19delinsGT
|
rs2135303045
|
|
NM_005188.4(CBL):c.1096-26_1099inv
|
|
|
NM_005188.4(CBL):c.1096-7A>G
|
rs1057517968
|
|
NM_005188.4(CBL):c.1097A>G (p.Glu366Gly)
|
|
|
NM_005188.4(CBL):c.1099_1101del (p.Gln367del)
|
rs1555230070
|
|
NM_005188.4(CBL):c.1100A>G (p.Gln367Arg)
|
rs267606704
|
|
NM_005188.4(CBL):c.1107_1118del (p.Leu370_Glu373del)
|
|
|
NM_005188.4(CBL):c.1110A>C (p.Leu370Phe)
|
|
|
NM_005188.4(CBL):c.1111T>G (p.Tyr371Asp)
|
|
|
NM_005188.4(CBL):c.1119G>T (p.Glu373Asp)
|
rs571152174
|
|
NM_005188.4(CBL):c.1120A>T (p.Met374Leu)
|
|
|
NM_005188.4(CBL):c.1126T>C (p.Ser376Pro)
|
|
|
NM_005188.4(CBL):c.1129del (p.Thr377fs)
|
|
|
NM_005188.4(CBL):c.1132_1137del (p.Phe378_Gln379del)
|
rs2135303632
|
|
NM_005188.4(CBL):c.1135C>A (p.Gln379Lys)
|
rs2135303660
|
|
NM_005188.4(CBL):c.1137A>C (p.Gln379His)
|
rs757933118
|
|
NM_005188.4(CBL):c.1141T>C (p.Cys381Arg)
|
rs757874631
|
|
NM_005188.4(CBL):c.1142G>A (p.Cys381Tyr)
|
|
|
NM_005188.4(CBL):c.1144A>G (p.Lys382Glu)
|
rs267606705
|
|
NM_005188.4(CBL):c.1145A>G (p.Lys382Arg)
|
|
|
NM_005188.4(CBL):c.1147A>C (p.Ile383Leu)
|
|
|
NM_005188.4(CBL):c.1148T>C (p.Ile383Thr)
|
|
|
NM_005188.4(CBL):c.1149A>G (p.Ile383Met)
|
rs2135303712
|
|
NM_005188.4(CBL):c.114C>G (p.His38Gln)
|
|
|
NM_005188.4(CBL):c.1150T>C (p.Cys384Arg)
|
rs387906664
|
|
NM_005188.4(CBL):c.1150T>G (p.Cys384Gly)
|
rs387906664
|
|
NM_005188.4(CBL):c.1151G>A (p.Cys384Tyr)
|
|
|
NM_005188.4(CBL):c.1153G>A (p.Ala385Thr)
|
|
|
NM_005188.4(CBL):c.1163A>G (p.Asp388Gly)
|
rs2135303762
|
|
NM_005188.4(CBL):c.1165A>G (p.Lys389Glu)
|
rs1060500676
|
|
NM_005188.4(CBL):c.1167G>C (p.Lys389Asn)
|
|
|
NM_005188.4(CBL):c.1167G>T (p.Lys389Asn)
|
rs773598122
|
|
NM_005188.4(CBL):c.1169A>T (p.Asp390Val)
|
rs763058208
|
|
NM_005188.4(CBL):c.1175A>T (p.Lys392Met)
|
rs2135303785
|
|
NM_005188.4(CBL):c.1183C>T (p.Pro395Ser)
|
|
|
NM_005188.4(CBL):c.1186T>C (p.Cys396Arg)
|
rs387906665
|
|
NM_005188.4(CBL):c.1187G>A (p.Cys396Tyr)
|
rs1949905062
|
|
NM_005188.4(CBL):c.1193A>G (p.His398Arg)
|
rs1303812580
|
|
NM_005188.4(CBL):c.1196T>A (p.Leu399His)
|
|
|
NM_005188.4(CBL):c.1196T>C (p.Leu399Pro)
|
|
|
NM_005188.4(CBL):c.1198A>C (p.Met400Leu)
|
|
|
NM_005188.4(CBL):c.1198A>G (p.Met400Val)
|
|
|
NM_005188.4(CBL):c.1198A>T (p.Met400Leu)
|
|
|
NM_005188.4(CBL):c.1199T>C (p.Met400Thr)
|
rs397507491
|
|
NM_005188.4(CBL):c.1201T>C (p.Cys401Arg)
|
rs397507492
|
|
NM_005188.4(CBL):c.1202G>T (p.Cys401Phe)
|
rs1357686410
|
|
NM_005188.4(CBL):c.1210T>A (p.Cys404Ser)
|
rs1949905314
|
|
NM_005188.4(CBL):c.1210T>C (p.Cys404Arg)
|
rs1949905314
|
|
NM_005188.4(CBL):c.1212_1223dup (p.Cys404_Ser407dup)
|
rs2135303865
|
|
NM_005188.4(CBL):c.1219T>C (p.Ser407Pro)
|
|
|
NM_005188.4(CBL):c.121C>T (p.His41Tyr)
|
|
|
NM_005188.4(CBL):c.121_129dup (p.Leu43_Ser44insHisHisLeu)
|
|
|
NM_005188.4(CBL):c.1220C>A (p.Ser407Tyr)
|
rs2135303902
|
|
NM_005188.4(CBL):c.1220C>T (p.Ser407Phe)
|
|
|
NM_005188.4(CBL):c.1227+10T>C
|
rs886047768
|
|
NM_005188.4(CBL):c.1227+2T>C
|
|
|
NM_005188.4(CBL):c.1227+5G>C
|
|
|
NM_005188.4(CBL):c.1231_1236del (p.Ser411_Glu412del)
|
rs2135304373
|
|
NM_005188.4(CBL):c.1237G>A (p.Gly413Ser)
|
rs371679886
|
|
NM_005188.4(CBL):c.1237G>C (p.Gly413Arg)
|
rs371679886
|
|
NM_005188.4(CBL):c.1238G>A (p.Gly413Asp)
|
rs2135304402
|
|
NM_005188.4(CBL):c.1243G>A (p.Gly415Ser)
|
rs756530482
|
|
NM_005188.4(CBL):c.1246T>A (p.Cys416Ser)
|
rs1949907918
|
|
NM_005188.4(CBL):c.1246T>C (p.Cys416Arg)
|
|
|
NM_005188.4(CBL):c.1247G>A (p.Cys416Tyr)
|
|
|
NM_005188.4(CBL):c.1247G>C (p.Cys416Ser)
|
rs757456261
|
|
NM_005188.4(CBL):c.1250C>G (p.Pro417Arg)
|
|
|
NM_005188.4(CBL):c.1253T>C (p.Phe418Ser)
|
rs772156285
|
|
NM_005188.4(CBL):c.1254C>G (p.Phe418Leu)
|
|
|
NM_005188.4(CBL):c.1256G>A (p.Cys419Tyr)
|
|
|
NM_005188.4(CBL):c.1258C>G (p.Arg420Gly)
|
|
|
NM_005188.4(CBL):c.1259G>C (p.Arg420Pro)
|
|
|
NM_005188.4(CBL):c.1259G>T (p.Arg420Leu)
|
rs267606708
|
|
NM_005188.4(CBL):c.1263T>G (p.Cys421Trp)
|
rs1592401139
|
|
NM_005188.4(CBL):c.1274G>A (p.Gly425Asp)
|
rs1949908282
|
|
NM_005188.4(CBL):c.127C>A (p.Leu43Ile)
|
rs1358704061
|
|
NM_005188.4(CBL):c.127C>T (p.Leu43Phe)
|
|
|
NM_005188.4(CBL):c.127_129dup (p.Leu43dup)
|
rs1555225106
|
|
NM_005188.4(CBL):c.1286T>A (p.Ile429Asn)
|
|
|
NM_005188.4(CBL):c.1298C>A (p.Pro433Gln)
|
rs140627020
|
|
NM_005188.4(CBL):c.1306C>T (p.Pro436Ser)
|
|
|
NM_005188.4(CBL):c.1319G>T (p.Gly440Val)
|
rs757570929
|
|
NM_005188.4(CBL):c.1321A>C (p.Ser441Arg)
|
|
|
NM_005188.4(CBL):c.1322G>T (p.Ser441Ile)
|
|
|
NM_005188.4(CBL):c.1346del (p.Gly449fs)
|
rs1592401235
|
|
NM_005188.4(CBL):c.1349C>T (p.Ala450Val)
|
|
|
NM_005188.4(CBL):c.1351C>G (p.Pro451Ala)
|
rs886041313
|
|
NM_005188.4(CBL):c.1361A>G (p.Asn454Ser)
|
rs2135304767
|
|
NM_005188.4(CBL):c.1363T>G (p.Tyr455Asp)
|
|
|
NM_005188.4(CBL):c.1365TGA[3] (p.Asp458_Asp460del)
|
|
|
NM_005188.4(CBL):c.1365TGA[5] (p.Asp460del)
|
rs397507494
|
|
NM_005188.4(CBL):c.136C>T (p.His46Tyr)
|
|
|
NM_005188.4(CBL):c.1384C>T (p.Arg462Ter)
|
rs886041425
|
|
NM_005188.4(CBL):c.1385G>A (p.Arg462Gln)
|
|
|
NM_005188.4(CBL):c.1393G>A (p.Asp465Asn)
|
rs2135304845
|
|
NM_005188.4(CBL):c.1400T>C (p.Leu467Pro)
|
rs1385198964
|
|
NM_005188.4(CBL):c.1401_1402del (p.Phe468fs)
|
rs2135304862
|
|
NM_005188.4(CBL):c.1406T>C (p.Met469Thr)
|
|
|
NM_005188.4(CBL):c.1431+6A>G
|
|
|
NM_005188.4(CBL):c.1435G>T (p.Glu479Ter)
|
|
|
NM_005188.4(CBL):c.1436A>T (p.Glu479Val)
|
|
|
NM_005188.4(CBL):c.143C>T (p.Pro48Leu)
|
|
|
NM_005188.4(CBL):c.1442C>T (p.Pro481Leu)
|
|
|
NM_005188.4(CBL):c.1457C>T (p.Ser486Phe)
|
|
|
NM_005188.4(CBL):c.1463C>A (p.Ala488Asp)
|
|
|
NM_005188.4(CBL):c.1466dup (p.Gln490fs)
|
|
|
NM_005188.4(CBL):c.1471G>A (p.Ala491Thr)
|
|
|
NM_005188.4(CBL):c.1480C>G (p.Pro494Ala)
|
|
|
NM_005188.4(CBL):c.1484C>A (p.Pro495Gln)
|
|
|
NM_005188.4(CBL):c.1484del (p.Pro495fs)
|
rs2135310015
|
|
NM_005188.4(CBL):c.1496G>A (p.Arg499Gln)
|
rs1949969900
|
|
NM_005188.4(CBL):c.1497A>G (p.Arg499=)
|
rs1949969920
|
|
NM_005188.4(CBL):c.1499T>C (p.Leu500Pro)
|
|
|
NM_005188.4(CBL):c.149C>T (p.Thr50Met)
|
|
|
NM_005188.4(CBL):c.1504C>T (p.Leu502Phe)
|
|
|
NM_005188.4(CBL):c.1517G>A (p.Arg506Gln)
|
|
|
NM_005188.4(CBL):c.1523G>A (p.Cys508Tyr)
|
|
|
NM_005188.4(CBL):c.1523G>C (p.Cys508Ser)
|
rs2135310108
|
|
NM_005188.4(CBL):c.1527_1528delinsCT (p.Pro510Ser)
|
|
|
NM_005188.4(CBL):c.1534del (p.Ser512fs)
|
|
|
NM_005188.4(CBL):c.1537G>A (p.Ala513Thr)
|
rs200442365
|
|
NM_005188.4(CBL):c.1538C>T (p.Ala513Val)
|
rs1949970576
|
|
NM_005188.4(CBL):c.1543G>C (p.Ala515Pro)
|
rs1171133734
|
|
NM_005188.4(CBL):c.1547T>C (p.Leu516Pro)
|
|
|
NM_005188.4(CBL):c.1561A>G (p.Lys521Glu)
|
|
|
NM_005188.4(CBL):c.1562A>T (p.Lys521Met)
|
|
|
NM_005188.4(CBL):c.1563+1G>A
|
|
|
NM_005188.4(CBL):c.1564-3C>T
|
rs1555230585
|
|
NM_005188.4(CBL):c.156C>A (p.Asp52Glu)
|
rs2135244248
|
|
NM_005188.4(CBL):c.1570T>G (p.Ser524Ala)
|
|
|
NM_005188.4(CBL):c.1579C>T (p.Leu527Phe)
|
|
|
NM_005188.4(CBL):c.1585A>G (p.Lys529Glu)
|
|
|
NM_005188.4(CBL):c.158A>G (p.Lys53Arg)
|
|
|
NM_005188.4(CBL):c.1598T>C (p.Leu533Ser)
|
|
|
NM_005188.4(CBL):c.1598dup (p.Leu533fs)
|
|
|
NM_005188.4(CBL):c.160A>G (p.Lys54Glu)
|
|
|
NM_005188.4(CBL):c.1618C>T (p.Arg540Ter)
|
rs764340189
|
|
NM_005188.4(CBL):c.1619G>A (p.Arg540Gln)
|
rs980503623
|
|
NM_005188.4(CBL):c.1622A>G (p.Asp541Gly)
|
|
|
NM_005188.4(CBL):c.1630C>T (p.Pro544Ser)
|
|
|
NM_005188.4(CBL):c.1633C>G (p.Pro545Ala)
|
|
|
NM_005188.4(CBL):c.1633C>T (p.Pro545Ser)
|
|
|
NM_005188.4(CBL):c.1634C>A (p.Pro545Gln)
|
rs1949973481
|
|
NM_005188.4(CBL):c.1634C>T (p.Pro545Leu)
|
rs1949973481
|
|
NM_005188.4(CBL):c.1655A>G (p.Tyr552Cys)
|
|
|
NM_005188.4(CBL):c.1675C>G (p.Arg559Gly)
|
rs779425249
|
|
NM_005188.4(CBL):c.1676G>A (p.Arg559Gln)
|
rs143034856
|
|
NM_005188.4(CBL):c.1681C>T (p.Gln561Ter)
|
rs1246882963
|
|
NM_005188.4(CBL):c.1692C>T (p.Pro564=)
|
rs1300224054
|
|
NM_005188.4(CBL):c.1696C>A (p.Pro566Thr)
|
|
|
NM_005188.4(CBL):c.1697C>G (p.Pro566Arg)
|
rs1428398685
|
|
NM_005188.4(CBL):c.1699_1701dup (p.Cys567_Thr568insCys)
|
|
|
NM_005188.4(CBL):c.1700G>A (p.Cys567Tyr)
|
rs1949974480
|
|
NM_005188.4(CBL):c.1710C>T (p.Gly570=)
|
|
|
NM_005188.4(CBL):c.1711G>A (p.Asp571Asn)
|
rs483352825
|
|
NM_005188.4(CBL):c.1717C>T (p.Pro573Ser)
|
|
|
NM_005188.4(CBL):c.1732dup (p.Leu578fs)
|
rs1949974996
|
|
NM_005188.4(CBL):c.1733T>C (p.Leu578Pro)
|
rs776651600
|
|
NM_005188.4(CBL):c.1735C>G (p.Pro579Ala)
|
rs752260506
|
|
NM_005188.4(CBL):c.173A>G (p.Lys58Arg)
|
|
|
NM_005188.4(CBL):c.1742T>G (p.Val581Gly)
|
|
|
NM_005188.4(CBL):c.1744C>A (p.Pro582Thr)
|
rs2135310666
|
|
NM_005188.4(CBL):c.1745C>T (p.Pro582Leu)
|
rs1949975295
|
|
NM_005188.4(CBL):c.1754G>A (p.Arg585His)
|
rs727504640
|
|
NM_005188.4(CBL):c.1754G>C (p.Arg585Pro)
|
|
|
NM_005188.4(CBL):c.1754G>T (p.Arg585Leu)
|
rs727504640
|
|
NM_005188.4(CBL):c.1757T>C (p.Leu586Pro)
|
|
|
NM_005188.4(CBL):c.1765T>C (p.Ser589Pro)
|
rs1555230612
|
|
NM_005188.4(CBL):c.1768T>G (p.Trp590Gly)
|
|
|
NM_005188.4(CBL):c.1769G>C (p.Trp590Ser)
|
|
|
NM_005188.4(CBL):c.1771C>G (p.Leu591Val)
|
rs1060500679
|
|
NM_005188.4(CBL):c.1778G>A (p.Arg593Gln)
|
rs730880435
|
|
NM_005188.4(CBL):c.1781C>T (p.Pro594Leu)
|
|
|
NM_005188.4(CBL):c.1789A>G (p.Lys597Glu)
|
rs1949976299
|
|
NM_005188.4(CBL):c.1790A>G (p.Lys597Arg)
|
rs1363189852
|
|
NM_005188.4(CBL):c.1792G>A (p.Val598Ile)
|
|
|
NM_005188.4(CBL):c.1793T>A (p.Val598Glu)
|
rs1060500675
|
|
NM_005188.4(CBL):c.1794A>G (p.Val598=)
|
rs760865008
|
|
NM_005188.4(CBL):c.1795C>A (p.Pro599Thr)
|
rs1340017837
|
|
NM_005188.4(CBL):c.1795C>G (p.Pro599Ala)
|
rs1340017837
|
|
NM_005188.4(CBL):c.1801T>C (p.Ser601Pro)
|
rs1271364778
|
|
NM_005188.4(CBL):c.1810A>G (p.Ser604Gly)
|
rs1555230616
|
|
NM_005188.4(CBL):c.1816A>G (p.Ser606Gly)
|
|
|
NM_005188.4(CBL):c.1818T>A (p.Ser606Arg)
|
|
|
NM_005188.4(CBL):c.1821T>A (p.Asp607Glu)
|
rs2135310845
|
|
NM_005188.4(CBL):c.1822C>T (p.Pro608Ser)
|
rs763666786
|
|
NM_005188.4(CBL):c.1823C>A (p.Pro608His)
|
rs397507495
|
|
NM_005188.4(CBL):c.182A>G (p.Lys61Arg)
|
|
|
NM_005188.4(CBL):c.1831G>C (p.Gly611Arg)
|
|
|
NM_005188.4(CBL):c.1834A>G (p.Arg612Gly)
|
|
|
NM_005188.4(CBL):c.1837G>T (p.Glu613Ter)
|
|
|
NM_005188.4(CBL):c.1847A>C (p.Asn616Thr)
|
rs376094293
|
|
NM_005188.4(CBL):c.1847A>G (p.Asn616Ser)
|
|
|
NM_005188.4(CBL):c.1847A>T (p.Asn616Ile)
|
|
|
NM_005188.4(CBL):c.184C>G (p.Leu62Val)
|
rs1459635883
|
|
NM_005188.4(CBL):c.1850G>A (p.Arg617Gln)
|
rs780457588
|
|
NM_005188.4(CBL):c.1850G>T (p.Arg617Leu)
|
rs780457588
|
|
NM_005188.4(CBL):c.1858C>G (p.Leu620Val)
|
|
|
NM_005188.4(CBL):c.185T>A (p.Leu62His)
|
|
|
NM_005188.4(CBL):c.1912G>A (p.Gly638Arg)
|
|
|
NM_005188.4(CBL):c.1915A>G (p.Ser639Gly)
|
|
|
NM_005188.4(CBL):c.1917C>G (p.Ser639Arg)
|
|
|
NM_005188.4(CBL):c.1919C>T (p.Thr640Met)
|
|
|
NM_005188.4(CBL):c.1925G>A (p.Ser642Asn)
|
rs571045498
|
|
NM_005188.4(CBL):c.1928T>C (p.Leu643Pro)
|
|
|
NM_005188.4(CBL):c.192C>A (p.Asp64Glu)
|
|
|
NM_005188.4(CBL):c.192C>G (p.Asp64Glu)
|
rs1565851628
|
|
NM_005188.4(CBL):c.1934C>T (p.Thr645Ile)
|
|
|
NM_005188.4(CBL):c.1937C>T (p.Ser646Phe)
|
|
|
NM_005188.4(CBL):c.1941+2T>G
|
|
|
NM_005188.4(CBL):c.1941+4A>C
|
|
|
NM_005188.4(CBL):c.1945A>G (p.Met649Val)
|
rs769423231
|
|
NM_005188.4(CBL):c.1949_1951del (p.Asn650del)
|
|
|
NM_005188.4(CBL):c.195+5A>G
|
rs1949271201
|
|
NM_005188.4(CBL):c.195+6902A>G
|
|
|
NM_005188.4(CBL):c.1951A>G (p.Ser651Gly)
|
|
|
NM_005188.4(CBL):c.1953C>A (p.Ser651Arg)
|
|
|
NM_005188.4(CBL):c.1954A>C (p.Ser652Arg)
|
rs1055456727
|
|
NM_005188.4(CBL):c.1957C>T (p.Pro653Ser)
|
rs1591265497
|
|
NM_005188.4(CBL):c.1958C>T (p.Pro653Leu)
|
|
|
NM_005188.4(CBL):c.1962A>T (p.Leu654Phe)
|
rs727502915
|
|
NM_005188.4(CBL):c.1967G>A (p.Gly656Asp)
|
rs886047770
|
|
NM_005188.4(CBL):c.196G>A (p.Val66Met)
|
|
|
NM_005188.4(CBL):c.1991T>C (p.Ile664Thr)
|
rs397507496
|
|
NM_005188.4(CBL):c.1A>G (p.Met1Val)
|
|
|
NM_005188.4(CBL):c.2009C>T (p.Ala670Val)
|
|
|
NM_005188.4(CBL):c.2015C>A (p.Ala672Asp)
|
|
|
NM_005188.4(CBL):c.2017A>G (p.Ile673Val)
|
rs1439055502
|
|
NM_005188.4(CBL):c.2021A>G (p.Tyr674Cys)
|
rs768160029
|
|
NM_005188.4(CBL):c.2024C>A (p.Ser675Tyr)
|
|
|
NM_005188.4(CBL):c.2041_2044inv (p.Leu681_Pro682delinsGluAla)
|
|
|
NM_005188.4(CBL):c.2047G>A (p.Val683Met)
|
rs2135319783
|
|
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.2050C>T (p.Pro684Ser)
|
rs587778154
|
|
NM_005188.4(CBL):c.2052A>C (p.Pro684=)
|
rs886047771
|
|
NM_005188.4(CBL):c.2053A>C (p.Lys685Gln)
|
rs1555027603
|
|
NM_005188.4(CBL):c.2056C>G (p.Leu686Val)
|
|
|
NM_005188.4(CBL):c.2063C>G (p.Pro688Arg)
|
|
|
NM_005188.4(CBL):c.2065G>T (p.Gly689Trp)
|
|
|
NM_005188.4(CBL):c.2069A>T (p.Glu690Val)
|
|
|
NM_005188.4(CBL):c.206T>C (p.Leu69Ser)
|
|
|
NM_005188.4(CBL):c.2077G>A (p.Glu693Lys)
|
rs587778156
|
|
NM_005188.4(CBL):c.2093C>A (p.Thr698Lys)
|
rs1565272125
|
|
NM_005188.4(CBL):c.2095G>A (p.Glu699Lys)
|
|
|
NM_005188.4(CBL):c.2096A>G (p.Glu699Gly)
|
rs866325598
|
|
NM_005188.4(CBL):c.2097G>C (p.Glu699Asp)
|
rs1057519031
|
|
NM_005188.4(CBL):c.2100C>A (p.Tyr700Ter)
|
|
|
NM_005188.4(CBL):c.2107C>T (p.Pro703Ser)
|
|
|
NM_005188.4(CBL):c.2116A>T (p.Arg706Trp)
|
|
|
NM_005188.4(CBL):c.2120C>G (p.Pro707Arg)
|
rs576175174
|
|
NM_005188.4(CBL):c.2135A>G (p.Asp712Gly)
|
|
|
NM_005188.4(CBL):c.213_214del (p.Asn72fs)
|
|
|
NM_005188.4(CBL):c.2144A>C (p.Gln715Pro)
|
|
|
NM_005188.4(CBL):c.2146A>G (p.Ser716Gly)
|
|
|
NM_005188.4(CBL):c.2152C>T (p.Arg718Ter)
|
|
|
NM_005188.4(CBL):c.2153+5G>C
|
|
|
NM_005188.4(CBL):c.2155G>T (p.Ala719Ser)
|
|
|
NM_005188.4(CBL):c.2161G>T (p.Asp721Tyr)
|
|
|
NM_005188.4(CBL):c.2164T>G (p.Cys722Gly)
|
|
|
NM_005188.4(CBL):c.2167G>A (p.Asp723Asn)
|
|
|
NM_005188.4(CBL):c.2177T>C (p.Ile726Thr)
|
|
|
NM_005188.4(CBL):c.2180A>G (p.Asp727Gly)
|
|
|
NM_005188.4(CBL):c.2192A>G (p.Tyr731Cys)
|
rs1212670088
|
|
NM_005188.4(CBL):c.2201T>C (p.Met734Thr)
|
|
|
NM_005188.4(CBL):c.2202_2203dup (p.Tyr735fs)
|
|
|
NM_005188.4(CBL):c.2212C>G (p.Gln738Glu)
|
|
|
NM_005188.4(CBL):c.2228C>G (p.Ser743Cys)
|
|
|
NM_005188.4(CBL):c.2231T>G (p.Ile744Ser)
|
|
|
NM_005188.4(CBL):c.2232C>G (p.Ile744Met)
|
|
|
NM_005188.4(CBL):c.2236G>A (p.Glu746Lys)
|
|
|
NM_005188.4(CBL):c.223C>G (p.Leu75Val)
|
|
|
NM_005188.4(CBL):c.2249_2251dup (p.Phe750_Gly751insVal)
|
rs1950072398
|
|
NM_005188.4(CBL):c.2251+6T>A
|
|
|
NM_005188.4(CBL):c.2252-2A>G
|
rs1950077587
|
|
NM_005188.4(CBL):c.2252G>C (p.Gly751Ala)
|
|
|
NM_005188.4(CBL):c.2252G>T (p.Gly751Val)
|
rs2135320929
|
|
NM_005188.4(CBL):c.2260A>G (p.Asn754Asp)
|
|
|
NM_005188.4(CBL):c.2266G>T (p.Ala756Ser)
|
|
|
NM_005188.4(CBL):c.226G>A (p.Ala76Thr)
|
rs1483168332
|
|
NM_005188.4(CBL):c.2270C>T (p.Ala757Val)
|
rs1489560722
|
|
NM_005188.4(CBL):c.2273C>T (p.Ala758Val)
|
|
|
NM_005188.4(CBL):c.227C>A (p.Ala76Glu)
|
rs757898729
|
|
NM_005188.4(CBL):c.2282A>G (p.Asn761Ser)
|
|
|
NM_005188.4(CBL):c.2284A>G (p.Thr762Ala)
|
|
|
NM_005188.4(CBL):c.2285C>G (p.Thr762Ser)
|
|
|
NM_005188.4(CBL):c.2291C>G (p.Pro764Arg)
|
|
|
NM_005188.4(CBL):c.2293G>A (p.Glu765Lys)
|
|
|
NM_005188.4(CBL):c.2300C>T (p.Ser767Leu)
|
|
|
NM_005188.4(CBL):c.2309A>G (p.Glu770Gly)
|
|
|
NM_005188.4(CBL):c.2314G>A (p.Asp772Asn)
|
rs1950078039
|
|
NM_005188.4(CBL):c.2315A>T (p.Asp772Val)
|
rs2135321028
|
|
NM_005188.4(CBL):c.2338C>T (p.Pro780Ser)
|
rs1555027886
|
|
NM_005188.4(CBL):c.2341G>C (p.Val781Leu)
|
|
|
NM_005188.4(CBL):c.2347G>T (p.Ala783Ser)
|
|
|
NM_005188.4(CBL):c.2349C>A (p.Ala783=)
|
rs552509693
|
|
NM_005188.4(CBL):c.2350G>C (p.Val784Leu)
|
rs140725852
|
|
NM_005188.4(CBL):c.2356del (p.Ala786fs)
|
|
|
NM_005188.4(CBL):c.2357C>T (p.Ala786Val)
|
|
|
NM_005188.4(CBL):c.235A>G (p.Asn79Asp)
|
|
|
NM_005188.4(CBL):c.2363G>C (p.Arg788Pro)
|
|
|
NM_005188.4(CBL):c.2369T>A (p.Leu790His)
|
rs1950078661
|
|
NM_005188.4(CBL):c.2377A>G (p.Ile793Val)
|
|
|
NM_005188.4(CBL):c.2378T>C (p.Ile793Thr)
|
|
|
NM_005188.4(CBL):c.2381C>G (p.Ser794Cys)
|
|
|
NM_005188.4(CBL):c.2389A>G (p.Ser797Gly)
|
|
|
NM_005188.4(CBL):c.2390G>A (p.Ser797Asn)
|
|
|
NM_005188.4(CBL):c.2393CCT[1] (p.Ser799del)
|
rs755938138
|
|
NM_005188.4(CBL):c.2396C>T (p.Ser799Phe)
|
|
|
NM_005188.4(CBL):c.2399T>G (p.Phe800Cys)
|
rs1285510326
|
|
NM_005188.4(CBL):c.239G>A (p.Ser80Asn)
|
|
|
NM_005188.4(CBL):c.2404T>A (p.Trp802Arg)
|
rs2135321282
|
|
NM_005188.4(CBL):c.2406G>A (p.Trp802Ter)
|
|
|
NM_005188.4(CBL):c.2408T>C (p.Leu803Ser)
|
rs2135321296
|
|
NM_005188.4(CBL):c.2413C>G (p.Leu805Val)
|
rs1950079119
|
|
NM_005188.4(CBL):c.2418T>G (p.Asp806Glu)
|
|
|
NM_005188.4(CBL):c.2420G>A (p.Gly807Asp)
|
|
|
NM_005188.4(CBL):c.2428A>G (p.Thr810Ala)
|
|
|
NM_005188.4(CBL):c.2429CAA[1] (p.Thr811del)
|
|
|
NM_005188.4(CBL):c.2432C>A (p.Thr811Lys)
|
|
|
NM_005188.4(CBL):c.2434+2T>A
|
|
|
NM_005188.4(CBL):c.2434+3G>A
|
rs2135321343
|
|
NM_005188.4(CBL):c.2434A>G (p.Asn812Asp)
|
rs907398440
|
|
NM_005188.4(CBL):c.2435-1_2435del
|
rs749424087
|
|
NM_005188.4(CBL):c.2443G>A (p.Glu815Lys)
|
|
|
NM_005188.4(CBL):c.2444A>C (p.Glu815Ala)
|
rs1950085293
|
|
NM_005188.4(CBL):c.2452C>T (p.Gln818Ter)
|
|
|
NM_005188.4(CBL):c.2453A>C (p.Gln818Pro)
|
|
|
NM_005188.4(CBL):c.2458C>T (p.Pro820Ser)
|
|
|
NM_005188.4(CBL):c.2467C>T (p.Pro823Ser)
|
|
|
NM_005188.4(CBL):c.2470C>T (p.Pro824Ser)
|
|
|
NM_005188.4(CBL):c.2471C>T (p.Pro824Leu)
|
rs2135322034
|
|
NM_005188.4(CBL):c.2482C>G (p.Pro828Ala)
|
|
|
NM_005188.4(CBL):c.2483C>T (p.Pro828Leu)
|
|
|
NM_005188.4(CBL):c.248A>G (p.Tyr83Cys)
|
rs1555226659
|
|
NM_005188.4(CBL):c.2494_2495del (p.Asn832fs)
|
|
|
NM_005188.4(CBL):c.2502A>T (p.Glu834Asp)
|
rs1950085952
|
|
NM_005188.4(CBL):c.2504G>A (p.Arg835Gln)
|
rs1057518072
|
|
NM_005188.4(CBL):c.2509G>A (p.Ala837Thr)
|
rs1950086093
|
|
NM_005188.4(CBL):c.250A>G (p.Ile84Val)
|
|
|
NM_005188.4(CBL):c.2519G>A (p.Cys840Tyr)
|
rs376536789
|
|
NM_005188.4(CBL):c.2519G>C (p.Cys840Ser)
|
rs376536789
|
|
NM_005188.4(CBL):c.251T>C (p.Ile84Thr)
|
|
|
NM_005188.4(CBL):c.2530A>G (p.Ser844Gly)
|
|
|
NM_005188.4(CBL):c.2531G>A (p.Ser844Asn)
|
|
|
NM_005188.4(CBL):c.2536C>T (p.Pro846Ser)
|
|
|
NM_005188.4(CBL):c.2542G>T (p.Ala848Ser)
|
|
|
NM_005188.4(CBL):c.2544C>T (p.Ala848=)
|
rs2135322154
|
|
NM_005188.4(CBL):c.2546C>T (p.Ser849Phe)
|
|
|
NM_005188.4(CBL):c.2551G>T (p.Ala851Ser)
|
|
|
NM_005188.4(CBL):c.2554A>C (p.Thr852Pro)
|
|
|
NM_005188.4(CBL):c.2558C>T (p.Ala853Val)
|
|
|
NM_005188.4(CBL):c.2569_2574dup (p.Ser858_Ser859insLeuSer)
|
|
|
NM_005188.4(CBL):c.2573C>G (p.Ser858Cys)
|
|
|
NM_005188.4(CBL):c.2573C>T (p.Ser858Phe)
|
rs2135322201
|
|
NM_005188.4(CBL):c.2579A>T (p.Glu860Val)
|
rs1950087188
|
|
NM_005188.4(CBL):c.2590C>G (p.Leu864Val)
|
rs2135322234
|
|
NM_005188.4(CBL):c.2599C>T (p.Gln867Ter)
|
|
|
NM_005188.4(CBL):c.25T>C (p.Ser9Pro)
|
rs1170501749
|
|
NM_005188.4(CBL):c.2600A>C (p.Gln867Pro)
|
|
|
NM_005188.4(CBL):c.260T>A (p.Leu87Gln)
|
rs2135266203
|
|
NM_005188.4(CBL):c.2614C>G (p.Gln872Glu)
|
rs746795014
|
|
NM_005188.4(CBL):c.2629G>C (p.Ala877Pro)
|
|
|
NM_005188.4(CBL):c.263T>C (p.Leu88Pro)
|
|
|
NM_005188.4(CBL):c.2642C>G (p.Ala881Gly)
|
|
|
NM_005188.4(CBL):c.2644C>A (p.Gln882Lys)
|
|
|
NM_005188.4(CBL):c.2654T>C (p.Ile885Thr)
|
|
|
NM_005188.4(CBL):c.265C>T (p.Pro89Ser)
|
rs1949511407
|
|
NM_005188.4(CBL):c.2684T>C (p.Phe895Ser)
|
|
|
NM_005188.4(CBL):c.2686G>A (p.Val896Ile)
|
rs2135322351
|
|
NM_005188.4(CBL):c.2687T>C (p.Val896Ala)
|
|
|
NM_005188.4(CBL):c.2694T>G (p.Ile898Met)
|
|
|
NM_005188.4(CBL):c.269A>G (p.Asp90Gly)
|
rs1555226661
|
|
NM_005188.4(CBL):c.26C>T (p.Ser9Phe)
|
|
|
NM_005188.4(CBL):c.2701_2703del (p.Pro901del)
|
|
|
NM_005188.4(CBL):c.2708A>G (p.His903Arg)
|
rs1950088762
|
|
NM_005188.4(CBL):c.2710_2711del (p.Val904fs)
|
|
|
NM_005188.4(CBL):c.2714C>A (p.Ala905Asp)
|
|
|
NM_005188.4(CBL):c.272C>A (p.Thr91Asn)
|
|
|
NM_005188.4(CBL):c.287G>A (p.Arg96His)
|
|
|
NM_005188.4(CBL):c.296T>C (p.Leu99Ser)
|
rs1949511665
|
|
NM_005188.4(CBL):c.313A>C (p.Lys105Gln)
|
|
|
NM_005188.4(CBL):c.320A>C (p.Glu107Ala)
|
|
|
NM_005188.4(CBL):c.326T>C (p.Leu109Pro)
|
|
|
NM_005188.4(CBL):c.328G>A (p.Gly110Arg)
|
rs1565859798
|
|
NM_005188.4(CBL):c.32C>A (p.Ala11Asp)
|
|
|
NM_005188.4(CBL):c.32C>T (p.Ala11Val)
|
|
|
NM_005188.4(CBL):c.337G>A (p.Glu113Lys)
|
|
|
NM_005188.4(CBL):c.338A>C (p.Glu113Ala)
|
|
|
NM_005188.4(CBL):c.346A>G (p.Arg116Gly)
|
|
|
NM_005188.4(CBL):c.355A>G (p.Met119Val)
|
rs1173256276
|
|
NM_005188.4(CBL):c.357G>A (p.Met119Ile)
|
rs1490142046
|
|
NM_005188.4(CBL):c.357G>T (p.Met119Ile)
|
rs1490142046
|
|
NM_005188.4(CBL):c.367A>G (p.Met123Val)
|
rs1949512275
|
|
NM_005188.4(CBL):c.367A>T (p.Met123Leu)
|
rs1949512275
|
|
NM_005188.4(CBL):c.372G>C (p.Lys124Asn)
|
|
|
NM_005188.4(CBL):c.37G>A (p.Gly13Ser)
|
|
|
NM_005188.4(CBL):c.383A>G (p.Gln128Arg)
|
|
|
NM_005188.4(CBL):c.385A>G (p.Thr129Ala)
|
|
|
NM_005188.4(CBL):c.394del (p.Leu132fs)
|
|
|
NM_005188.4(CBL):c.401A>G (p.Lys134Arg)
|
rs2135266374
|
|
NM_005188.4(CBL):c.405G>C (p.Glu135Asp)
|
rs1057519030
|
|
NM_005188.4(CBL):c.406G>A (p.Gly136Arg)
|
rs2135266379
|
|
NM_005188.4(CBL):c.40G>A (p.Gly14Ser)
|
rs1565851542
|
|
NM_005188.4(CBL):c.419T>G (p.Met140Arg)
|
rs1555226684
|
|
NM_005188.4(CBL):c.420G>A (p.Met140Ile)
|
rs2135266393
|
|
NM_005188.4(CBL):c.421T>C (p.Tyr141His)
|
|
|
NM_005188.4(CBL):c.438G>C (p.Gln146His)
|
|
|
NM_005188.4(CBL):c.438G>T (p.Gln146His)
|
|
|
NM_005188.4(CBL):c.43_44delinsCC (p.Ser15Pro)
|
rs1555225091
|
|
NM_005188.4(CBL):c.443+18C>T
|
|
|
NM_005188.4(CBL):c.444-10T>C
|
|
|
NM_005188.4(CBL):c.444-14C>A
|
|
|
NM_005188.4(CBL):c.444-3T>C
|
|
|
NM_005188.4(CBL):c.444-5del
|
|
|
NM_005188.4(CBL):c.444-6862G>A
|
rs2135290907
|
|
NM_005188.4(CBL):c.445C>T (p.Arg149Ter)
|
rs267602720
|
|
NM_005188.4(CBL):c.453A>C (p.Leu151=)
|
|
|
NM_005188.4(CBL):c.454A>C (p.Thr152Pro)
|
|
|
NM_005188.4(CBL):c.455C>A (p.Thr152Asn)
|
|
|
NM_005188.4(CBL):c.457A>G (p.Lys153Glu)
|
|
|
NM_005188.4(CBL):c.461T>C (p.Leu154Pro)
|
rs1949850753
|
|
NM_005188.4(CBL):c.471C>G (p.Ile157Met)
|
|
|
NM_005188.4(CBL):c.473T>C (p.Phe158Ser)
|
rs2135297020
|
|
NM_005188.4(CBL):c.481A>C (p.Met161Leu)
|
|
|
NM_005188.4(CBL):c.482T>A (p.Met161Lys)
|
|
|
NM_005188.4(CBL):c.493C>G (p.Leu165Val)
|
rs1555229540
|
|
NM_005188.4(CBL):c.498A>C (p.Lys166Asn)
|
rs1565870421
|
|
NM_005188.4(CBL):c.49T>C (p.Ser17Pro)
|
|
|
NM_005188.4(CBL):c.508C>T (p.Pro170Ser)
|
rs1949851157
|
|
NM_005188.4(CBL):c.509C>T (p.Pro170Leu)
|
|
|
NM_005188.4(CBL):c.522T>G (p.Phe174Leu)
|
|
|
NM_005188.4(CBL):c.538C>T (p.Arg180Trp)
|
|
|
NM_005188.4(CBL):c.550G>A (p.Ala184Thr)
|
|
|
NM_005188.4(CBL):c.55G>A (p.Gly19Ser)
|
rs1257650494
|
|
NM_005188.4(CBL):c.586dup (p.Glu196fs)
|
rs2135297170
|
|
NM_005188.4(CBL):c.590+2T>G
|
|
|
NM_005188.4(CBL):c.590+3A>C
|
|
|
NM_005188.4(CBL):c.591-3C>G
|
|
|
NM_005188.4(CBL):c.59C>T (p.Ser20Leu)
|
|
|
NM_005188.4(CBL):c.619C>A (p.Gln207Lys)
|
|
|
NM_005188.4(CBL):c.628C>G (p.His210Asp)
|
|
|
NM_005188.4(CBL):c.634G>A (p.Val212Met)
|
|
|
NM_005188.4(CBL):c.643A>G (p.Ile215Val)
|
|
|
NM_005188.4(CBL):c.646A>G (p.Ser216Gly)
|
|
|
NM_005188.4(CBL):c.650C>G (p.Ser217Cys)
|
|
|
NM_005188.4(CBL):c.650C>T (p.Ser217Phe)
|
|
|
NM_005188.4(CBL):c.656T>C (p.Leu219Pro)
|
rs895664191
|
|
NM_005188.4(CBL):c.664A>G (p.Met222Val)
|
|
|
NM_005188.4(CBL):c.665T>C (p.Met222Thr)
|
rs1057518053
|
|
NM_005188.4(CBL):c.680C>G (p.Thr227Ser)
|
rs1949868148
|
|
NM_005188.4(CBL):c.686A>G (p.Asp229Gly)
|
|
|
NM_005188.4(CBL):c.686A>T (p.Asp229Val)
|
rs1414848678
|
|
NM_005188.4(CBL):c.68G>C (p.Gly23Ala)
|
|
|
NM_005188.4(CBL):c.704A>G (p.Tyr235Cys)
|
|
|
NM_005188.4(CBL):c.710C>A (p.Ser237Ter)
|
|
|
NM_005188.4(CBL):c.710C>T (p.Ser237Leu)
|
rs1949868655
|
|
NM_005188.4(CBL):c.727A>T (p.Ile243Phe)
|
|
|
NM_005188.4(CBL):c.728T>C (p.Ile243Thr)
|
rs1268100574
|
|
NM_005188.4(CBL):c.747+10_747+11insTTAT
|
rs1473693007
|
|
NM_005188.4(CBL):c.747+3A>G
|
rs1592398477
|
|
NM_005188.4(CBL):c.747G>A (p.Gln249=)
|
rs1949869019
|
|
NM_005188.4(CBL):c.748-3T>C
|
rs1060500677
|
|
NM_005188.4(CBL):c.765C>G (p.Leu255=)
|
|
|
NM_005188.4(CBL):c.77T>C (p.Ile26Thr)
|
rs2135244100
|
|
NM_005188.4(CBL):c.785C>T (p.Ala262Val)
|
rs1949876321
|
|
NM_005188.4(CBL):c.80G>T (p.Gly27Val)
|
rs933058944
|
|
NM_005188.4(CBL):c.818C>G (p.Thr273Arg)
|
rs1949876598
|
|
NM_005188.4(CBL):c.82C>T (p.Leu28Phe)
|
|
|
NM_005188.4(CBL):c.838C>G (p.Arg280Gly)
|
|
|
NM_005188.4(CBL):c.83T>C (p.Leu28Pro)
|
|
|
NM_005188.4(CBL):c.851T>C (p.Phe284Ser)
|
|
|
NM_005188.4(CBL):c.852C>T (p.Phe284=)
|
rs745855639
|
|
NM_005188.4(CBL):c.85A>G (p.Met29Val)
|
|
|
NM_005188.4(CBL):c.864dup (p.Gly289fs)
|
|
|
NM_005188.4(CBL):c.866G>T (p.Gly289Val)
|
rs2135300624
|
|
NM_005188.4(CBL):c.880C>T (p.Arg294Trp)
|
|
|
NM_005188.4(CBL):c.892A>C (p.Thr298Pro)
|
rs1949886947
|
|
NM_005188.4(CBL):c.895C>T (p.Arg299Cys)
|
rs1053471259
|
|
NM_005188.4(CBL):c.8G>T (p.Gly3Val)
|
rs1362763825
|
|
NM_005188.4(CBL):c.911C>G (p.Ala304Gly)
|
rs2135301506
|
|
NM_005188.4(CBL):c.913A>G (p.Ile305Val)
|
|
|
NM_005188.4(CBL):c.929C>G (p.Ala310Gly)
|
|
|
NM_005188.4(CBL):c.936G>T (p.Gly312=)
|
rs1949887269
|
|
NM_005188.4(CBL):c.938A>G (p.Asn313Ser)
|
|
|
NM_005188.4(CBL):c.940A>T (p.Ile314Phe)
|
|
|
NM_005188.4(CBL):c.94G>A (p.Ala32Thr)
|
rs2135244138
|
|
NM_005188.4(CBL):c.952A>G (p.Ile318Val)
|
|
|
NM_005188.4(CBL):c.960C>A (p.His320Gln)
|
rs1949887450
|
|
NM_005188.4(CBL):c.98T>A (p.Phe33Tyr)
|
rs987225083
|
|
NM_005343.4(HRAS):c.-101C>T
|
rs8176336
|
|
NM_005343.4(HRAS):c.-54+3G>A
|
|
|
NM_005343.4(HRAS):c.101C>T (p.Pro34Leu)
|
rs2133994210
|
|
NM_005343.4(HRAS):c.103A>G (p.Thr35Ala)
|
rs2133994194
|
|
NM_005343.4(HRAS):c.106A>G (p.Ile36Val)
|
rs1060502663
|
|
NM_005343.4(HRAS):c.107T>C (p.Ile36Thr)
|
rs775056058
|
|
NM_005343.4(HRAS):c.108dup (p.Glu37fs)
|
rs2133994149
|
|
NM_005343.4(HRAS):c.110_111+5del
|
rs1564790048
|
|
NM_005343.4(HRAS):c.112-10C>A
|
rs727503092
|
|
NM_005343.4(HRAS):c.112-11T>A
|
|
|
NM_005343.4(HRAS):c.112-59_*6-51del
|
|
|
NM_005343.4(HRAS):c.115T>A (p.Ser39Thr)
|
rs2133991854
|
|
NM_005343.4(HRAS):c.11A>C (p.Tyr4Ser)
|
rs764622691
|
|
NM_005343.4(HRAS):c.122G>A (p.Arg41Gln)
|
|
|
NM_005343.4(HRAS):c.122G>C (p.Arg41Pro)
|
|
|
NM_005343.4(HRAS):c.127C>T (p.Gln43Ter)
|
rs2133991697
|
|
NM_005343.4(HRAS):c.129G>C (p.Gln43His)
|
|
|
NM_005343.4(HRAS):c.131T>C (p.Val44Ala)
|
|
|
NM_005343.4(HRAS):c.133G>A (p.Val45Ile)
|
rs1564789708
|
|
NM_005343.4(HRAS):c.134T>A (p.Val45Asp)
|
rs1028352031
|
|
NM_005343.4(HRAS):c.136A>G (p.Ile46Val)
|
rs2133991578
|
|
NM_005343.4(HRAS):c.137T>C (p.Ile46Thr)
|
rs1564789700
|
|
NM_005343.4(HRAS):c.138T>G (p.Ile46Met)
|
rs1851286467
|
|
NM_005343.4(HRAS):c.145G>A (p.Glu49Lys)
|
rs1277340795
|
|
NM_005343.4(HRAS):c.145G>C (p.Glu49Gln)
|
rs1277340795
|
|
NM_005343.4(HRAS):c.146A>G (p.Glu49Gly)
|
|
|
NM_005343.4(HRAS):c.151T>C (p.Cys51Arg)
|
|
|
NM_005343.4(HRAS):c.158T>A (p.Leu53Ter)
|
|
|
NM_005343.4(HRAS):c.158T>G (p.Leu53Trp)
|
|
|
NM_005343.4(HRAS):c.16_24del (p.Leu6_Val8del)
|
|
|
NM_005343.4(HRAS):c.174_192del (p.Gly60fs)
|
rs878854757
|
|
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr)
|
rs727503093
|
|
NM_005343.4(HRAS):c.175G>T (p.Ala59Ser)
|
rs727503093
|
|
NM_005343.4(HRAS):c.177_433dup (p.Glu98Ter)
|
|
|
NM_005343.4(HRAS):c.178G>C (p.Gly60Arg)
|
|
|
NM_005343.4(HRAS):c.17TGG[3] (p.Val9del)
|
rs1164486792
|
|
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu)
|
rs121913233
|
|
NM_005343.4(HRAS):c.188_230dup (p.Phe78fs)
|
rs1589792614
|
|
NM_005343.4(HRAS):c.189G>C (p.Glu63Asp)
|
|
|
NM_005343.4(HRAS):c.191dup (p.Tyr64Ter)
|
|
|
NM_005343.4(HRAS):c.194G>A (p.Ser65Asn)
|
|
|
NM_005343.4(HRAS):c.197C>T (p.Ala66Val)
|
|
|
NM_005343.4(HRAS):c.19G>T (p.Val7Leu)
|
|
|
NM_005343.4(HRAS):c.201G>A (p.Met67Ile)
|
|
|
NM_005343.4(HRAS):c.202C>G (p.Arg68Gly)
|
rs1370690781
|
|
NM_005343.4(HRAS):c.202C>T (p.Arg68Trp)
|
rs1370690781
|
|
NM_005343.4(HRAS):c.203G>A (p.Arg68Gln)
|
rs730880461
|
|
NM_005343.4(HRAS):c.203G>T (p.Arg68Leu)
|
rs730880461
|
|
NM_005343.4(HRAS):c.211T>C (p.Tyr71His)
|
rs2133990650
|
|
NM_005343.4(HRAS):c.215T>C (p.Met72Thr)
|
|
|
NM_005343.4(HRAS):c.217C>T (p.Arg73Cys)
|
|
|
NM_005343.4(HRAS):c.218G>A (p.Arg73His)
|
|
|
NM_005343.4(HRAS):c.220A>G (p.Thr74Ala)
|
|
|
NM_005343.4(HRAS):c.221C>G (p.Thr74Ser)
|
|
|
NM_005343.4(HRAS):c.230G>A (p.Gly77Asp)
|
|
|
NM_005343.4(HRAS):c.236T>A (p.Leu79Gln)
|
rs1851275137
|
|
NM_005343.4(HRAS):c.238T>A (p.Cys80Ser)
|
rs1370566417
|
|
NM_005343.4(HRAS):c.245T>C (p.Phe82Ser)
|
rs1851274209
|
|
NM_005343.4(HRAS):c.245T>G (p.Phe82Cys)
|
rs1851274209
|
|
NM_005343.4(HRAS):c.247G>A (p.Ala83Thr)
|
|
|
NM_005343.4(HRAS):c.250A>G (p.Ile84Val)
|
|
|
NM_005343.4(HRAS):c.253A>G (p.Asn85Asp)
|
|
|
NM_005343.4(HRAS):c.25dup (p.Val9fs)
|
|
|
NM_005343.4(HRAS):c.260C>A (p.Thr87Asn)
|
rs1851272986
|
|
NM_005343.4(HRAS):c.260C>T (p.Thr87Ile)
|
rs1851272986
|
|
NM_005343.4(HRAS):c.262A>G (p.Lys88Glu)
|
|
|
NM_005343.4(HRAS):c.263A>G (p.Lys88Arg)
|
rs1851272638
|
|
NM_005343.4(HRAS):c.269T>C (p.Phe90Ser)
|
rs1589792507
|
|
NM_005343.4(HRAS):c.270dup (p.Glu91Ter)
|
rs1851272209
|
|
NM_005343.4(HRAS):c.274G>A (p.Asp92Asn)
|
rs1851271948
|
|
NM_005343.4(HRAS):c.275A>C (p.Asp92Ala)
|
rs1589792495
|
|
NM_005343.4(HRAS):c.282C>G (p.His94Gln)
|
rs375893752
|
|
NM_005343.4(HRAS):c.285G>C (p.Gln95His)
|
rs925794740
|
|
NM_005343.4(HRAS):c.290+3G>A
|
|
|
NM_005343.4(HRAS):c.290+3G>T
|
|
|
NM_005343.4(HRAS):c.290+6C>A
|
rs878854758
|
|
NM_005343.4(HRAS):c.290+9C>G
|
rs747854581
|
|
NM_005343.4(HRAS):c.291-3C>T
|
rs1851251687
|
|
NM_005343.4(HRAS):c.292G>A (p.Glu98Lys)
|
rs751137946
|
|
NM_005343.4(HRAS):c.294G>A (p.Glu98=)
|
|
|
NM_005343.4(HRAS):c.295C>G (p.Gln99Glu)
|
rs1851251123
|
|
NM_005343.4(HRAS):c.295C>T (p.Gln99Ter)
|
|
|
NM_005343.4(HRAS):c.305G>A (p.Arg102Gln)
|
|
|
NM_005343.4(HRAS):c.307G>C (p.Val103Leu)
|
rs1213269684
|
|
NM_005343.4(HRAS):c.313G>A (p.Asp105Asn)
|
rs1274939921
|
|
NM_005343.4(HRAS):c.313G>C (p.Asp105His)
|
|
|
NM_005343.4(HRAS):c.317C>G (p.Ser106Trp)
|
rs730880462
|
|
NM_005343.4(HRAS):c.319G>A (p.Asp107Asn)
|
|
|
NM_005343.4(HRAS):c.323A>G (p.Asp108Gly)
|
|
|
NM_005343.4(HRAS):c.325G>A (p.Val109Met)
|
rs1342261234
|
|
NM_005343.4(HRAS):c.325G>T (p.Val109Leu)
|
|
|
NM_005343.4(HRAS):c.331A>G (p.Met111Val)
|
rs771447288
|
|
NM_005343.4(HRAS):c.331A>T (p.Met111Leu)
|
|
|
NM_005343.4(HRAS):c.332T>C (p.Met111Thr)
|
rs1564789063
|
|
NM_005343.4(HRAS):c.343G>A (p.Gly115Arg)
|
|
|
NM_005343.4(HRAS):c.347A>G (p.Asn116Ser)
|
|
|
NM_005343.4(HRAS):c.358C>G (p.Leu120Val)
|
rs397517139
|
|
NM_005343.4(HRAS):c.361G>A (p.Ala121Thr)
|
rs1851245429
|
|
NM_005343.4(HRAS):c.362C>A (p.Ala121Asp)
|
rs376667492
|
|
NM_005343.4(HRAS):c.362C>T (p.Ala121Val)
|
rs376667492
|
|
NM_005343.4(HRAS):c.364G>A (p.Ala122Thr)
|
rs1851244921
|
|
NM_005343.4(HRAS):c.367C>G (p.Arg123Gly)
|
rs369106578
|
|
NM_005343.4(HRAS):c.368G>A (p.Arg123His)
|
rs730880464
|
|
NM_005343.4(HRAS):c.370A>G (p.Thr124Ala)
|
rs1851243906
|
|
NM_005343.4(HRAS):c.373del (p.Val125fs)
|
|
|
NM_005343.4(HRAS):c.374T>C (p.Val125Ala)
|
|
|
NM_005343.4(HRAS):c.374T>G (p.Val125Gly)
|
|
|
NM_005343.4(HRAS):c.376G>T (p.Glu126Ter)
|
|
|
NM_005343.4(HRAS):c.379T>C (p.Ser127Pro)
|
rs1221709596
|
|
NM_005343.4(HRAS):c.383G>A (p.Arg128Gln)
|
rs1554884794
|
|
NM_005343.4(HRAS):c.383G>T (p.Arg128Leu)
|
rs1554884794
|
|
NM_005343.4(HRAS):c.386A>G (p.Gln129Arg)
|
rs1851242529
|
|
NM_005343.4(HRAS):c.388G>C (p.Ala130Pro)
|
rs1564788957
|
|
NM_005343.4(HRAS):c.391C>G (p.Gln131Glu)
|
rs376688893
|
|
NM_005343.4(HRAS):c.395A>G (p.Asp132Gly)
|
|
|
NM_005343.4(HRAS):c.401C>T (p.Ala134Val)
|
rs397517141
|
|
NM_005343.4(HRAS):c.401_402insAAGACCTCGC (p.Ser136fs)
|
|
|
NM_005343.4(HRAS):c.403C>T (p.Arg135Ter)
|
|
|
NM_005343.4(HRAS):c.404G>A (p.Arg135Gln)
|
rs1473091760
|
|
NM_005343.4(HRAS):c.406A>G (p.Ser136Gly)
|
|
|
NM_005343.4(HRAS):c.407G>C (p.Ser136Thr)
|
|
|
NM_005343.4(HRAS):c.412G>C (p.Gly138Arg)
|
|
|
NM_005343.4(HRAS):c.412_431del (p.Gly138fs)
|
rs1851237302
|
|
NM_005343.4(HRAS):c.413G>A (p.Gly138Asp)
|
rs1554884772
|
|
NM_005343.4(HRAS):c.413G>T (p.Gly138Val)
|
rs1554884772
|
|
NM_005343.4(HRAS):c.414C>T (p.Gly138=)
|
rs2133986610
|
|
NM_005343.4(HRAS):c.415A>T (p.Ile139Phe)
|
rs2133986598
|
|
NM_005343.4(HRAS):c.419C>T (p.Pro140Leu)
|
rs745637518
|
|
NM_005343.4(HRAS):c.41T>G (p.Val14Gly)
|
rs1589793707
|
|
NM_005343.4(HRAS):c.424A>C (p.Ile142Leu)
|
rs1564788848
|
|
NM_005343.4(HRAS):c.424A>G (p.Ile142Val)
|
rs1564788848
|
|
NM_005343.4(HRAS):c.424A>T (p.Ile142Phe)
|
|
|
NM_005343.4(HRAS):c.424_426del (p.Ile142del)
|
|
|
NM_005343.4(HRAS):c.425T>C (p.Ile142Thr)
|
rs2133986466
|
|
NM_005343.4(HRAS):c.426C>A (p.Ile142=)
|
rs533567288
|
|
NM_005343.4(HRAS):c.426C>G (p.Ile142Met)
|
rs533567288
|
|
NM_005343.4(HRAS):c.427G>A (p.Glu143Lys)
|
rs909222512
|
|
NM_005343.4(HRAS):c.427G>C (p.Glu143Gln)
|
rs909222512
|
|
NM_005343.4(HRAS):c.429G>C (p.Glu143Asp)
|
rs1226399807
|
|
NM_005343.4(HRAS):c.440_450+16del
|
|
|
NM_005343.4(HRAS):c.443C>G (p.Thr148Ser)
|
|
|
NM_005343.4(HRAS):c.445C>A (p.Arg149=)
|
|
|
NM_005343.4(HRAS):c.445C>T (p.Arg149Trp)
|
rs1554884750
|
|
NM_005343.4(HRAS):c.445del (p.Arg149fs)
|
rs2133986181
|
|
NM_005343.4(HRAS):c.446G>A (p.Arg149Gln)
|
|
|
NM_005343.4(HRAS):c.44G>C (p.Gly15Ala)
|
rs1554885139
|
|
NM_005343.4(HRAS):c.44G>T (p.Gly15Val)
|
|
|
NM_005343.4(HRAS):c.450+4A>C
|
|
|
NM_005343.4(HRAS):c.451-6T>G
|
rs1480423930
|
|
NM_005343.4(HRAS):c.451G>A (p.Gly151Arg)
|
|
|
NM_005343.4(HRAS):c.451G>C (p.Gly151Arg)
|
|
|
NM_005343.4(HRAS):c.452G>C (p.Gly151Ala)
|
rs1362209698
|
|
NM_005343.4(HRAS):c.457G>T (p.Glu153Ter)
|
|
|
NM_005343.4(HRAS):c.463G>T (p.Ala155Ser)
|
rs1171537215
|
|
NM_005343.4(HRAS):c.464C>T (p.Ala155Val)
|
rs1269551105
|
|
NM_005343.4(HRAS):c.469T>C (p.Tyr157His)
|
rs1851182643
|
|
NM_005343.4(HRAS):c.473C>A (p.Thr158Lys)
|
|
|
NM_005343.4(HRAS):c.473C>G (p.Thr158Arg)
|
|
|
NM_005343.4(HRAS):c.473C>T (p.Thr158Met)
|
rs587778400
|
|
NM_005343.4(HRAS):c.473_475delinsG (p.Thr158fs)
|
|
|
NM_005343.4(HRAS):c.476T>C (p.Leu159Ser)
|
rs2133982455
|
|
NM_005343.4(HRAS):c.477G>T (p.Leu159Phe)
|
|
|
NM_005343.4(HRAS):c.479T>C (p.Val160Ala)
|
rs1851181776
|
|
NM_005343.4(HRAS):c.479T>G (p.Val160Gly)
|
|
|
NM_005343.4(HRAS):c.481C>T (p.Arg161Cys)
|
rs758956556
|
|
NM_005343.4(HRAS):c.482_511del (p.Arg161_Lys170del)
|
rs2133982236
|
|
NM_005343.4(HRAS):c.484G>A (p.Glu162Lys)
|
rs1564787942
|
|
NM_005343.4(HRAS):c.484G>C (p.Glu162Gln)
|
|
|
NM_005343.4(HRAS):c.486G>C (p.Glu162Asp)
|
|
|
NM_005343.4(HRAS):c.487A>T (p.Ile163Phe)
|
rs1564787934
|
|
NM_005343.4(HRAS):c.489C>G (p.Ile163Met)
|
|
|
NM_005343.4(HRAS):c.491G>C (p.Arg164Pro)
|
rs753977266
|
|
NM_005343.4(HRAS):c.493C>A (p.Gln165Lys)
|
|
|
NM_005343.4(HRAS):c.497A>G (p.His166Arg)
|
rs1851180327
|
|
NM_005343.4(HRAS):c.4A>G (p.Thr2Ala)
|
rs878854761
|
|
NM_005343.4(HRAS):c.503T>C (p.Leu168Pro)
|
rs756367459
|
|
NM_005343.4(HRAS):c.506G>T (p.Arg169Leu)
|
rs142218590
|
|
NM_005343.4(HRAS):c.511C>G (p.Leu171Val)
|
|
|
NM_005343.4(HRAS):c.515A>G (p.Asn172Ser)
|
rs913523409
|
|
NM_005343.4(HRAS):c.516C>A (p.Asn172Lys)
|
|
|
NM_005343.4(HRAS):c.517C>T (p.Pro173Ser)
|
rs1851178613
|
|
NM_005343.4(HRAS):c.518C>T (p.Pro173Leu)
|
rs1171786943
|
|
NM_005343.4(HRAS):c.520C>G (p.Pro174Ala)
|
|
|
NM_005343.4(HRAS):c.521C>A (p.Pro174His)
|
rs2133982181
|
|
NM_005343.4(HRAS):c.529_530del (p.Ser177fs)
|
|
|
NM_005343.4(HRAS):c.529_531del (p.Ser177del)
|
|
|
NM_005343.4(HRAS):c.530G>A (p.Ser177Asn)
|
rs1191074796
|
|
NM_005343.4(HRAS):c.530G>C (p.Ser177Thr)
|
|
|
NM_005343.4(HRAS):c.532G>A (p.Gly178Ser)
|
|
|
NM_005343.4(HRAS):c.532G>C (p.Gly178Arg)
|
rs1445835026
|
|
NM_005343.4(HRAS):c.535C>T (p.Pro179Ser)
|
rs1201430199
|
|
NM_005343.4(HRAS):c.538G>C (p.Gly180Arg)
|
|
|
NM_005343.4(HRAS):c.539G>A (p.Gly180Asp)
|
rs1851175904
|
|
NM_005343.4(HRAS):c.542G>A (p.Cys181Tyr)
|
rs1187682907
|
|
NM_005343.4(HRAS):c.543C>T (p.Cys181=)
|
rs2133982060
|
|
NM_005343.4(HRAS):c.544A>C (p.Met182Leu)
|
rs730880465
|
|
NM_005343.4(HRAS):c.544A>G (p.Met182Val)
|
rs730880465
|
|
NM_005343.4(HRAS):c.545T>C (p.Met182Thr)
|
rs1851174858
|
|
NM_005343.4(HRAS):c.548G>A (p.Ser183Asn)
|
|
|
NM_005343.4(HRAS):c.551G>A (p.Cys184Tyr)
|
rs2133982018
|
|
NM_005343.4(HRAS):c.551G>C (p.Cys184Ser)
|
rs2133982018
|
|
NM_005343.4(HRAS):c.552dup (p.Lys185fs)
|
rs1554884418
|
|
NM_005343.4(HRAS):c.559G>A (p.Val187Met)
|
|
|
NM_005343.4(HRAS):c.55C>A (p.Leu19Met)
|
|
|
NM_005343.4(HRAS):c.560T>C (p.Val187Ala)
|
rs1851173673
|
|
NM_005343.4(HRAS):c.565T>G (p.Ser189Ala)
|
rs1851173462
|
|
NM_005343.4(HRAS):c.566_568del (p.Ser189del)
|
|
|
NM_005343.4(HRAS):c.59C>T (p.Thr20Ile)
|
|
|
NM_005343.4(HRAS):c.5C>G (p.Thr2Arg)
|
rs1447218022
|
|
NM_005343.4(HRAS):c.5C>T (p.Thr2Met)
|
rs1447218022
|
|
NM_005343.4(HRAS):c.74A>G (p.Gln25Arg)
|
|
|
NM_005343.4(HRAS):c.88G>A (p.Asp30Asn)
|
rs1226305644
|
|
NM_005343.4(HRAS):c.91G>C (p.Glu31Gln)
|
|
|
NM_005343.4(HRAS):c.97G>A (p.Asp33Asn)
|
rs1851315835
|
|
NM_005343.4(HRAS):c.99C>A (p.Asp33Glu)
|
rs756934316
|
|
NM_005633.4(SOS1):c.*1049G>T
|
rs992013519
|
|
NM_005633.4(SOS1):c.*1090TTTG[1]
|
rs886056016
|
|
NM_005633.4(SOS1):c.*110C>A
|
rs1668534690
|
|
NM_005633.4(SOS1):c.*1224A>G
|
rs886056015
|
|
NM_005633.4(SOS1):c.*1396G>T
|
rs974302565
|
|
NM_005633.4(SOS1):c.*1412A>G
|
rs1668490693
|
|
NM_005633.4(SOS1):c.*1535G>A
|
rs1668487434
|
|
NM_005633.4(SOS1):c.*1589T>G
|
rs886056014
|
|
NM_005633.4(SOS1):c.*1678C>A
|
rs886056013
|
|
NM_005633.4(SOS1):c.*1694del
|
rs767903412
|
|
NM_005633.4(SOS1):c.*1998G>T
|
rs1285805260
|
|
NM_005633.4(SOS1):c.*2048_*2050dup
|
rs761591990
|
|
NM_005633.4(SOS1):c.*2063_*2066dup
|
rs886056011
|
|
NM_005633.4(SOS1):c.*218T>G
|
rs1258255790
|
|
NM_005633.4(SOS1):c.*21A>G
|
rs532419541
|
|
NM_005633.4(SOS1):c.*2208dup
|
rs886056010
|
|
NM_005633.4(SOS1):c.*2246A>T
|
rs1668462557
|
|
NM_005633.4(SOS1):c.*2257C>G
|
rs1020523755
|
|
NM_005633.4(SOS1):c.*2512C>A
|
rs1239076061
|
|
NM_005633.4(SOS1):c.*2893C>A
|
rs1668445130
|
|
NM_005633.4(SOS1):c.*298C>G
|
rs886056021
|
|
NM_005633.4(SOS1):c.*3149C>T
|
rs541644361
|
|
NM_005633.4(SOS1):c.*3158T>C
|
rs913024422
|
|
NM_005633.4(SOS1):c.*3189_*3192del
|
rs572584074
|
|
NM_005633.4(SOS1):c.*3230T>C
|
rs1572793043
|
|
NM_005633.4(SOS1):c.*3291C>T
|
rs748136708
|
|
NM_005633.4(SOS1):c.*3326T>C
|
rs1668433787
|
|
NM_005633.4(SOS1):c.*3463A>G
|
rs886056006
|
|
NM_005633.4(SOS1):c.*3566_*3568del
|
rs886056005
|
|
NM_005633.4(SOS1):c.*3750T>C
|
rs1034733063
|
|
NM_005633.4(SOS1):c.*3811T>C
|
rs1297949357
|
|
NM_005633.4(SOS1):c.*400_*401dup
|
rs10655655
|
|
NM_005633.4(SOS1):c.*4077G>T
|
rs763838346
|
|
NM_005633.4(SOS1):c.*408C>T
|
rs1572795423
|
|
NM_005633.4(SOS1):c.*4110C>A
|
rs886056003
|
|
NM_005633.4(SOS1):c.*483A>C
|
rs1668521466
|
|
NM_005633.4(SOS1):c.*696G>A
|
rs886056018
|
|
NM_005633.4(SOS1):c.*766del
|
rs533720751
|
|
NM_005633.4(SOS1):c.*855G>A
|
rs886056017
|
|
NM_005633.4(SOS1):c.*909G>A
|
rs147219108
|
|
NM_005633.4(SOS1):c.1019C>A (p.Pro340His)
|
rs1367541617
|
|
NM_005633.4(SOS1):c.1034C>A (p.Ala345Asp)
|
|
|
NM_005633.4(SOS1):c.1047C>G (p.His349Gln)
|
|
|
NM_005633.4(SOS1):c.1074+12_1074+14delinsGAA
|
|
|
NM_005633.4(SOS1):c.1074+1966C>G
|
rs2124558711
|
|
NM_005633.4(SOS1):c.1093G>C (p.Glu365Gln)
|
|
|
NM_005633.4(SOS1):c.1098T>A (p.Asp366Glu)
|
rs730881040
|
|
NM_005633.4(SOS1):c.1099C>G (p.Gln367Glu)
|
|
|
NM_005633.4(SOS1):c.1100A>G (p.Gln367Arg)
|
|
|
NM_005633.4(SOS1):c.1100A>T (p.Gln367Leu)
|
rs2124539658
|
|
NM_005633.4(SOS1):c.1127C>G (p.Ala376Gly)
|
|
|
NM_005633.4(SOS1):c.1129A>G (p.Ile377Val)
|
|
|
NM_005633.4(SOS1):c.1150C>G (p.Gln384Glu)
|
|
|
NM_005633.4(SOS1):c.1165A>G (p.Lys389Glu)
|
rs2124539595
|
|
NM_005633.4(SOS1):c.1166A>C (p.Lys389Thr)
|
|
|
NM_005633.4(SOS1):c.1175C>G (p.Ser392Cys)
|
|
|
NM_005633.4(SOS1):c.1175C>T (p.Ser392Phe)
|
|
|
NM_005633.4(SOS1):c.1180A>C (p.Ser394Arg)
|
|
|
NM_005633.4(SOS1):c.1199dup (p.Ser401fs)
|
rs2124539539
|
|
NM_005633.4(SOS1):c.11A>G (p.Gln4Arg)
|
|
|
NM_005633.4(SOS1):c.1200G>A (p.Leu400=)
|
rs748636051
|
|
NM_005633.4(SOS1):c.1206A>C (p.Glu402Asp)
|
|
|
NM_005633.4(SOS1):c.1210G>C (p.Ala404Pro)
|
|
|
NM_005633.4(SOS1):c.1220T>A (p.Phe407Tyr)
|
|
|
NM_005633.4(SOS1):c.1235T>C (p.Met412Thr)
|
|
|
NM_005633.4(SOS1):c.124G>A (p.Asp42Asn)
|
rs1402273679
|
|
NM_005633.4(SOS1):c.1250T>C (p.Leu417Pro)
|
|
|
NM_005633.4(SOS1):c.1252G>C (p.Ala418Pro)
|
|
|
NM_005633.4(SOS1):c.1255A>G (p.Ile419Val)
|
|
|
NM_005633.4(SOS1):c.1262A>T (p.Lys421Met)
|
|
|
NM_005633.4(SOS1):c.1269C>G (p.Asn423Lys)
|
rs138459502
|
|
NM_005633.4(SOS1):c.1276C>A (p.Gln426Lys)
|
rs1558474706
|
|
NM_005633.4(SOS1):c.1285A>G (p.Ile429Val)
|
rs2124537717
|
|
NM_005633.4(SOS1):c.1286T>C (p.Ile429Thr)
|
rs755862687
|
|
NM_005633.4(SOS1):c.1289A>G (p.Asp430Gly)
|
rs2124537699
|
|
NM_005633.4(SOS1):c.1291G>A (p.Gly431Ser)
|
rs1223347034
|
|
NM_005633.4(SOS1):c.1298_1300del (p.Glu433del)
|
rs2124537642
|
|
NM_005633.4(SOS1):c.1306G>C (p.Asp436His)
|
|
|
NM_005633.4(SOS1):c.1310T>G (p.Ile437Ser)
|
rs397517150
|
|
NM_005633.4(SOS1):c.1333A>G (p.Ile445Val)
|
rs2124537533
|
|
NM_005633.4(SOS1):c.1337T>C (p.Met446Thr)
|
rs1669849037
|
|
NM_005633.4(SOS1):c.1338G>C (p.Met446Ile)
|
|
|
NM_005633.4(SOS1):c.1352C>G (p.Thr451Arg)
|
rs730880218
|
|
NM_005633.4(SOS1):c.1357G>A (p.Val453Ile)
|
rs1669848256
|
|
NM_005633.4(SOS1):c.135dup (p.Gln46fs)
|
|
|
NM_005633.4(SOS1):c.1370A>G (p.His457Arg)
|
rs1060503524
|
|
NM_005633.4(SOS1):c.1376G>C (p.Arg459Thr)
|
|
|
NM_005633.4(SOS1):c.1379A>G (p.His460Arg)
|
|
|
NM_005633.4(SOS1):c.137A>T (p.Gln46Leu)
|
rs1190714377
|
|
NM_005633.4(SOS1):c.1391T>C (p.Phe464Ser)
|
|
|
NM_005633.4(SOS1):c.1393_1394delinsTT (p.Asp465Phe)
|
|
|
NM_005633.4(SOS1):c.1403T>C (p.Met468Thr)
|
|
|
NM_005633.4(SOS1):c.1405A>T (p.Ile469Phe)
|
|
|
NM_005633.4(SOS1):c.1422T>A (p.Asn474Lys)
|
|
|
NM_005633.4(SOS1):c.1426G>T (p.Gly476Trp)
|
|
|
NM_005633.4(SOS1):c.1432C>T (p.Pro478Ser)
|
|
|
NM_005633.4(SOS1):c.1433C>G (p.Pro478Arg)
|
rs1553356111
|
|
NM_005633.4(SOS1):c.1454A>G (p.Asn485Ser)
|
rs140671910
|
|
NM_005633.4(SOS1):c.1466G>A (p.Arg489His)
|
rs994463655
|
|
NM_005633.4(SOS1):c.1478A>G (p.Lys493Arg)
|
rs2124537230
|
|
NM_005633.4(SOS1):c.1479G>T (p.Lys493Asn)
|
rs2124537221
|
|
NM_005633.4(SOS1):c.1487T>A (p.Met496Lys)
|
|
|
NM_005633.4(SOS1):c.148G>A (p.Glu50Lys)
|
rs2148140584
|
|
NM_005633.4(SOS1):c.1490G>C (p.Arg497Pro)
|
rs371314838
|
|
NM_005633.4(SOS1):c.1493A>G (p.Lys498Arg)
|
|
|
NM_005633.4(SOS1):c.1495G>A (p.Val499Ile)
|
rs1315811250
|
|
NM_005633.4(SOS1):c.1495G>T (p.Val499Leu)
|
rs1315811250
|
|
NM_005633.4(SOS1):c.1511A>C (p.Lys504Thr)
|
rs2124537140
|
|
NM_005633.4(SOS1):c.1528T>C (p.Tyr510His)
|
rs201404055
|
|
NM_005633.4(SOS1):c.1534C>T (p.His512Tyr)
|
|
|
NM_005633.4(SOS1):c.1542T>A (p.Phe514Leu)
|
|
|
NM_005633.4(SOS1):c.1548A>G (p.Ile516Met)
|
|
|
NM_005633.4(SOS1):c.1558G>T (p.Asp520Tyr)
|
rs754115060
|
|
NM_005633.4(SOS1):c.1569T>G (p.Ser523Arg)
|
|
|
NM_005633.4(SOS1):c.157T>G (p.Leu53Val)
|
|
|
NM_005633.4(SOS1):c.1589C>T (p.Ser530Leu)
|
|
|
NM_005633.4(SOS1):c.1597G>A (p.Glu533Lys)
|
|
|
NM_005633.4(SOS1):c.1611G>C (p.Trp537Cys)
|
|
|
NM_005633.4(SOS1):c.1619C>T (p.Ala540Val)
|
rs2124536870
|
|
NM_005633.4(SOS1):c.1644T>A (p.Ser548Arg)
|
rs730881045
|
|
NM_005633.4(SOS1):c.1645A>G (p.Thr549Ala)
|
rs1558474335
|
|
NM_005633.4(SOS1):c.1648_1650del (p.Leu550del)
|
rs1669838767
|
|
NM_005633.4(SOS1):c.1658T>C (p.Met553Thr)
|
|
|
NM_005633.4(SOS1):c.1659G>A (p.Met553Ile)
|
rs886056025
|
|
NM_005633.4(SOS1):c.1660C>A (p.Leu554Ile)
|
rs757341897
|
|
NM_005633.4(SOS1):c.1664A>C (p.Asp555Ala)
|
|
|
NM_005633.4(SOS1):c.1666G>A (p.Val556Ile)
|
rs753909912
|
|
NM_005633.4(SOS1):c.1670C>T (p.Thr557Ile)
|
rs1245953394
|
|
NM_005633.4(SOS1):c.1674G>A (p.Met558Ile)
|
|
|
NM_005633.4(SOS1):c.1675C>A (p.Leu559Ile)
|
|
|
NM_005633.4(SOS1):c.1686G>T (p.Glu562Asp)
|
rs199778219
|
|
NM_005633.4(SOS1):c.1690G>A (p.Glu564Lys)
|
rs1386900583
|
|
NM_005633.4(SOS1):c.1691A>G (p.Glu564Gly)
|
|
|
NM_005633.4(SOS1):c.1698G>C (p.Gln566His)
|
|
|
NM_005633.4(SOS1):c.1709C>T (p.Pro570Leu)
|
|
|
NM_005633.4(SOS1):c.1711A>C (p.Ser571Arg)
|
|
|
NM_005633.4(SOS1):c.1727G>T (p.Arg576Ile)
|
rs1553356023
|
|
NM_005633.4(SOS1):c.172A>G (p.Met58Val)
|
rs2148140531
|
|
NM_005633.4(SOS1):c.1739C>G (p.Pro580Arg)
|
rs1669835119
|
|
NM_005633.4(SOS1):c.1748A>T (p.Glu583Val)
|
|
|
NM_005633.4(SOS1):c.1750G>A (p.Glu584Lys)
|
|
|
NM_005633.4(SOS1):c.1758_1775dup (p.Asn591_Met592insIleIlePheGluGluAsn)
|
|
|
NM_005633.4(SOS1):c.1768G>C (p.Glu590Gln)
|
rs730881047
|
|
NM_005633.4(SOS1):c.1770G>C (p.Glu590Asp)
|
rs553331572
|
|
NM_005633.4(SOS1):c.1790G>T (p.Gly597Val)
|
rs2124536324
|
|
NM_005633.4(SOS1):c.1798A>C (p.Ile600Leu)
|
rs373139450
|
|
NM_005633.4(SOS1):c.17T>C (p.Leu6Pro)
|
|
|
NM_005633.4(SOS1):c.1814C>A (p.Thr605Asn)
|
|
|
NM_005633.4(SOS1):c.182A>T (p.Gln61Leu)
|
rs1671636707
|
|
NM_005633.4(SOS1):c.1846C>A (p.His616Asn)
|
|
|
NM_005633.4(SOS1):c.1850T>C (p.Met617Thr)
|
rs775105134
|
|
NM_005633.4(SOS1):c.1865A>G (p.Asn622Ser)
|
|
|
NM_005633.4(SOS1):c.1867_1869delinsGAA (p.Phe623Glu)
|
rs1572823606
|
|
NM_005633.4(SOS1):c.1870G>T (p.Val624Phe)
|
rs1669579574
|
|
NM_005633.4(SOS1):c.1880T>G (p.Phe627Cys)
|
rs1057518197
|
|
NM_005633.4(SOS1):c.191C>T (p.Pro64Leu)
|
|
|
NM_005633.4(SOS1):c.1934T>G (p.Ile645Arg)
|
|
|
NM_005633.4(SOS1):c.1935A>G (p.Ile645Met)
|
rs2124520154
|
|
NM_005633.4(SOS1):c.1952C>T (p.Pro651Leu)
|
rs773205186
|
|
NM_005633.4(SOS1):c.1960G>C (p.Glu654Gln)
|
rs1669547011
|
|
NM_005633.4(SOS1):c.1961A>G (p.Glu654Gly)
|
rs1669546886
|
|
NM_005633.4(SOS1):c.1963C>G (p.Pro655Ala)
|
rs2124518554
|
|
NM_005633.4(SOS1):c.196A>G (p.Ser66Gly)
|
|
|
NM_005633.4(SOS1):c.1979G>A (p.Arg660His)
|
|
|
NM_005633.4(SOS1):c.1981A>T (p.Ile661Leu)
|
rs1181488319
|
|
NM_005633.4(SOS1):c.1988T>A (p.Ile663Lys)
|
|
|
NM_005633.4(SOS1):c.1989A>C (p.Ile663=)
|
rs587781172
|
|
NM_005633.4(SOS1):c.198T>G (p.Ser66Arg)
|
|
|
NM_005633.4(SOS1):c.1993A>T (p.Asn665Tyr)
|
|
|
NM_005633.4(SOS1):c.2051C>T (p.Pro684Leu)
|
rs397517155
|
|
NM_005633.4(SOS1):c.2059C>G (p.Leu687Val)
|
rs1669541910
|
|
NM_005633.4(SOS1):c.205G>C (p.Asp69His)
|
|
|
NM_005633.4(SOS1):c.2063G>A (p.Arg688Gln)
|
rs2124518275
|
|
NM_005633.4(SOS1):c.2086T>C (p.Trp696Arg)
|
|
|
NM_005633.4(SOS1):c.2098C>G (p.His700Asp)
|
|
|
NM_005633.4(SOS1):c.2100C>G (p.His700Gln)
|
rs1461692001
|
|
NM_005633.4(SOS1):c.2103C>G (p.Phe701Leu)
|
rs2124517580
|
|
NM_005633.4(SOS1):c.2117G>A (p.Arg706Lys)
|
rs2124517554
|
|
NM_005633.4(SOS1):c.2123C>T (p.Ala708Val)
|
|
|
NM_005633.4(SOS1):c.213+11_213+12delinsAT
|
|
|
NM_005633.4(SOS1):c.213+4T>A
|
|
|
NM_005633.4(SOS1):c.213+4T>C
|
rs1325380102
|
|
NM_005633.4(SOS1):c.2147A>T (p.Glu716Val)
|
|
|
NM_005633.4(SOS1):c.2153T>C (p.Ile718Thr)
|
|
|
NM_005633.4(SOS1):c.2156G>A (p.Gly719Glu)
|
rs200794965
|
|
NM_005633.4(SOS1):c.2167+1G>A
|
rs1558469557
|
|
NM_005633.4(SOS1):c.2167+6T>A
|
|
|
NM_005633.4(SOS1):c.2171A>T (p.Lys724Ile)
|
|
|
NM_005633.4(SOS1):c.2206A>G (p.Ile736Val)
|
|
|
NM_005633.4(SOS1):c.2223A>C (p.Lys741Asn)
|
rs2124515138
|
|
NM_005633.4(SOS1):c.2230A>G (p.Arg744Gly)
|
rs1669494952
|
|
NM_005633.4(SOS1):c.2237A>G (p.Asn746Ser)
|
rs975491573
|
|
NM_005633.4(SOS1):c.2249ATA[1] (p.Asn751del)
|
|
|
NM_005633.4(SOS1):c.224A>G (p.Gln75Arg)
|
|
|
NM_005633.4(SOS1):c.2253T>G (p.Asn751Lys)
|
rs1553354376
|
|
NM_005633.4(SOS1):c.2258C>T (p.Thr753Ile)
|
|
|
NM_005633.4(SOS1):c.225A>G (p.Gln75=)
|
rs560037748
|
|
NM_005633.4(SOS1):c.2267G>A (p.Ser756Asn)
|
|
|
NM_005633.4(SOS1):c.2282T>C (p.Val761Ala)
|
|
|
NM_005633.4(SOS1):c.228_229del (p.Ser77fs)
|
|
|
NM_005633.4(SOS1):c.2305G>C (p.Gly769Arg)
|
|
|
NM_005633.4(SOS1):c.2316G>C (p.Glu772Asp)
|
rs1176763588
|
|
NM_005633.4(SOS1):c.2326C>G (p.Leu776Val)
|
|
|
NM_005633.4(SOS1):c.2339_2354del (p.His780fs)
|
rs2124514866
|
|
NM_005633.4(SOS1):c.2350A>G (p.Ile784Val)
|
|
|
NM_005633.4(SOS1):c.2356C>T (p.Arg786Ter)
|
rs2124514851
|
|
NM_005633.4(SOS1):c.2359C>T (p.Gln787Ter)
|
|
|
NM_005633.4(SOS1):c.23A>T (p.Tyr8Phe)
|
rs781093356
|
|
NM_005633.4(SOS1):c.2404T>C (p.Ser802Pro)
|
|
|
NM_005633.4(SOS1):c.2436A>C (p.Glu812Asp)
|
|
|
NM_005633.4(SOS1):c.2446A>G (p.Ile816Val)
|
rs2124511484
|
|
NM_005633.4(SOS1):c.245T>C (p.Ile82Thr)
|
|
|
NM_005633.4(SOS1):c.2468A>G (p.Lys823Arg)
|
rs1558467976
|
|
NM_005633.4(SOS1):c.2489A>T (p.Asn830Ile)
|
rs397517158
|
|
NM_005633.4(SOS1):c.2491C>G (p.Leu831Val)
|
rs2124511437
|
|
NM_005633.4(SOS1):c.2512T>C (p.Cys838Arg)
|
|
|
NM_005633.4(SOS1):c.2516T>C (p.Ile839Thr)
|
|
|
NM_005633.4(SOS1):c.2522A>C (p.Glu841Ala)
|
|
|
NM_005633.4(SOS1):c.2533T>A (p.Leu845Ile)
|
|
|
NM_005633.4(SOS1):c.253T>C (p.Trp85Arg)
|
rs730881054
|
|
NM_005633.4(SOS1):c.2546T>C (p.Val849Ala)
|
|
|
NM_005633.4(SOS1):c.2554G>A (p.Val852Met)
|
|
|
NM_005633.4(SOS1):c.2554G>T (p.Val852Leu)
|
|
|
NM_005633.4(SOS1):c.256G>A (p.Ala86Thr)
|
|
|
NM_005633.4(SOS1):c.2571G>T (p.Glu857Asp)
|
|
|
NM_005633.4(SOS1):c.2590G>A (p.Glu864Lys)
|
|
|
NM_005633.4(SOS1):c.2593T>G (p.Leu865Val)
|
rs2124503349
|
|
NM_005633.4(SOS1):c.2595G>C (p.Leu865Phe)
|
rs2124503338
|
|
NM_005633.4(SOS1):c.25G>A (p.Glu9Lys)
|
rs1347187972
|
|
NM_005633.4(SOS1):c.2611G>C (p.Val871Leu)
|
rs1354107467
|
|
NM_005633.4(SOS1):c.2632A>G (p.Met878Val)
|
rs2124503272
|
|
NM_005633.4(SOS1):c.2633T>C (p.Met878Thr)
|
|
|
NM_005633.4(SOS1):c.2639dup (p.Ser881fs)
|
|
|
NM_005633.4(SOS1):c.2655A>T (p.Arg885Ser)
|
rs2124503237
|
|
NM_005633.4(SOS1):c.2660A>C (p.Asp887Ala)
|
|
|
NM_005633.4(SOS1):c.2661C>A (p.Asp887Glu)
|
rs2124503229
|
|
NM_005633.4(SOS1):c.2670T>A (p.Phe890Leu)
|
|
|
NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys)
|
rs1553353452
|
|
NM_005633.4(SOS1):c.2674-7C>T
|
rs1015610936
|
|
NM_005633.4(SOS1):c.267T>A (p.Asp89Glu)
|
rs2124610871
|
|
NM_005633.4(SOS1):c.2686C>T (p.Arg896Cys)
|
rs2124501933
|
|
NM_005633.4(SOS1):c.2702T>C (p.Leu901Ser)
|
rs2124501920
|
|
NM_005633.4(SOS1):c.2708A>C (p.Glu903Ala)
|
|
|
NM_005633.4(SOS1):c.2764A>G (p.Ile922Val)
|
rs780420674
|
|
NM_005633.4(SOS1):c.2788T>A (p.Phe930Ile)
|
rs1558465734
|
|
NM_005633.4(SOS1):c.2789T>C (p.Phe930Ser)
|
rs886056024
|
|
NM_005633.4(SOS1):c.2792-6T>G
|
|
|
NM_005633.4(SOS1):c.2803A>C (p.Thr935Pro)
|
|
|
NM_005633.4(SOS1):c.2804C>G (p.Thr935Ser)
|
|
|
NM_005633.4(SOS1):c.2832C>T (p.Asn944=)
|
rs868472772
|
|
NM_005633.4(SOS1):c.2836G>C (p.Glu946Gln)
|
rs1558460847
|
|
NM_005633.4(SOS1):c.283G>A (p.Glu95Lys)
|
rs1558493384
|
|
NM_005633.4(SOS1):c.283G>C (p.Glu95Gln)
|
|
|
NM_005633.4(SOS1):c.2874T>G (p.Phe958Leu)
|
rs2124479605
|
|
NM_005633.4(SOS1):c.2877C>G (p.Ser959Arg)
|
|
|
NM_005633.4(SOS1):c.28T>G (p.Phe10Val)
|
rs2148243308
|
|
NM_005633.4(SOS1):c.2930A>G (p.Gln977Arg)
|
rs2124479522
|
|
NM_005633.4(SOS1):c.2973T>G (p.Phe991Leu)
|
|
|
NM_005633.4(SOS1):c.2980T>G (p.Leu994Val)
|
|
|
NM_005633.4(SOS1):c.3002T>C (p.Met1001Thr)
|
rs2124478911
|
|
NM_005633.4(SOS1):c.3010G>A (p.Glu1004Lys)
|
|
|
NM_005633.4(SOS1):c.3011A>G (p.Glu1004Gly)
|
rs2124478876
|
|
NM_005633.4(SOS1):c.3012A>C (p.Glu1004Asp)
|
|
|
NM_005633.4(SOS1):c.3017C>T (p.Thr1006Ile)
|
|
|
NM_005633.4(SOS1):c.3032A>C (p.Asn1011Thr)
|
rs8192671
|
|
NM_005633.4(SOS1):c.3043G>A (p.Glu1015Lys)
|
|
|
NM_005633.4(SOS1):c.3043G>C (p.Glu1015Gln)
|
rs772348571
|
|
NM_005633.4(SOS1):c.3062C>A (p.Pro1021His)
|
rs771279973
|
|
NM_005633.4(SOS1):c.3068C>A (p.Pro1023His)
|
|
|
NM_005633.4(SOS1):c.3068C>G (p.Pro1023Arg)
|
rs1572806229
|
|
NM_005633.4(SOS1):c.3081+6C>T
|
|
|
NM_005633.4(SOS1):c.3092A>G (p.Tyr1031Cys)
|
rs1668861106
|
|
NM_005633.4(SOS1):c.3095G>C (p.Ser1032Thr)
|
rs2124475811
|
|
NM_005633.4(SOS1):c.3100C>A (p.Pro1034Thr)
|
|
|
NM_005633.4(SOS1):c.311C>A (p.Ser104Tyr)
|
|
|
NM_005633.4(SOS1):c.3134C>T (p.Pro1045Leu)
|
|
|
NM_005633.4(SOS1):c.313C>T (p.Leu105Phe)
|
|
|
NM_005633.4(SOS1):c.3145A>T (p.Thr1049Ser)
|
rs1668858649
|
|
NM_005633.4(SOS1):c.3158C>T (p.Pro1053Leu)
|
|
|
NM_005633.4(SOS1):c.3160A>T (p.Thr1054Ser)
|
|
|
NM_005633.4(SOS1):c.3175G>A (p.Glu1059Lys)
|
|
|
NM_005633.4(SOS1):c.3175G>C (p.Glu1059Gln)
|
|
|
NM_005633.4(SOS1):c.3176A>G (p.Glu1059Gly)
|
|
|
NM_005633.4(SOS1):c.3182G>A (p.Arg1061Lys)
|
|
|
NM_005633.4(SOS1):c.3193T>A (p.Tyr1065Asn)
|
|
|
NM_005633.4(SOS1):c.31T>C (p.Phe11Leu)
|
rs1673826301
|
|
NM_005633.4(SOS1):c.3220G>A (p.Glu1074Lys)
|
|
|
NM_005633.4(SOS1):c.3220G>C (p.Glu1074Gln)
|
|
|
NM_005633.4(SOS1):c.3221A>C (p.Glu1074Ala)
|
rs773504580
|
|
NM_005633.4(SOS1):c.3223A>G (p.Ser1075Gly)
|
|
|
NM_005633.4(SOS1):c.3226A>G (p.Thr1076Ala)
|
|
|
NM_005633.4(SOS1):c.3235G>A (p.Ala1079Thr)
|
rs1668854594
|
|
NM_005633.4(SOS1):c.3238C>G (p.Pro1080Ala)
|
|
|
NM_005633.4(SOS1):c.3242A>G (p.Asn1081Ser)
|
rs992722303
|
|
NM_005633.4(SOS1):c.3248C>G (p.Pro1083Arg)
|
|
|
NM_005633.4(SOS1):c.3254dup (p.Pro1086fs)
|
|
|
NM_005633.4(SOS1):c.3257C>A (p.Pro1086Gln)
|
rs730881028
|
|
NM_005633.4(SOS1):c.3258_3288dup (p.Ser1097fs)
|
|
|
NM_005633.4(SOS1):c.3260dup (p.Leu1087fs)
|
rs1558459711
|
|
NM_005633.4(SOS1):c.3265C>T (p.Pro1089Ser)
|
|
|
NM_005633.4(SOS1):c.3268C>T (p.Pro1090Ser)
|
|
|
NM_005633.4(SOS1):c.3272C>G (p.Pro1091Arg)
|
|
|
NM_005633.4(SOS1):c.3287C>G (p.Ser1096Cys)
|
|
|
NM_005633.4(SOS1):c.328A>G (p.Ile110Val)
|
rs1276127499
|
|
NM_005633.4(SOS1):c.3298G>C (p.Asp1100His)
|
|
|
NM_005633.4(SOS1):c.3298G>T (p.Asp1100Tyr)
|
rs1668850707
|
|
NM_005633.4(SOS1):c.329T>A (p.Ile110Asn)
|
|
|
NM_005633.4(SOS1):c.3305G>A (p.Cys1102Tyr)
|
rs2124475187
|
|
NM_005633.4(SOS1):c.3311T>A (p.Val1104Glu)
|
|
|
NM_005633.4(SOS1):c.3318T>G (p.Asp1106Glu)
|
|
|
NM_005633.4(SOS1):c.3322G>C (p.Asp1108His)
|
rs199856844
|
|
NM_005633.4(SOS1):c.3325C>A (p.His1109Asn)
|
|
|
NM_005633.4(SOS1):c.3329C>G (p.Ser1110Trp)
|
rs572955351
|
|
NM_005633.4(SOS1):c.332A>G (p.His111Arg)
|
rs1572860651
|
|
NM_005633.4(SOS1):c.3334C>G (p.Pro1112Ala)
|
|
|
NM_005633.4(SOS1):c.3334C>T (p.Pro1112Ser)
|
|
|
NM_005633.4(SOS1):c.3335C>G (p.Pro1112Arg)
|
rs1668848728
|
|
NM_005633.4(SOS1):c.3346+4G>C
|
rs1204153026
|
|
NM_005633.4(SOS1):c.3349A>G (p.Asn1117Asp)
|
rs2124462850
|
|
NM_005633.4(SOS1):c.3373A>C (p.Thr1125Pro)
|
|
|
NM_005633.4(SOS1):c.338T>C (p.Leu113Ser)
|
|
|
NM_005633.4(SOS1):c.3391+3T>A
|
|
|
NM_005633.4(SOS1):c.3391+3_3391+6del
|
rs756201866
|
|
NM_005633.4(SOS1):c.3391+5G>C
|
rs1668654438
|
|
NM_005633.4(SOS1):c.3391+6T>G
|
|
|
NM_005633.4(SOS1):c.3392-16A>G
|
|
|
NM_005633.4(SOS1):c.33C>G (p.Phe11Leu)
|
rs1673826225
|
|
NM_005633.4(SOS1):c.3409T>C (p.Ser1137Pro)
|
|
|
NM_005633.4(SOS1):c.3412A>C (p.Ile1138Leu)
|
rs56248239
|
|
NM_005633.4(SOS1):c.3433G>A (p.Asp1145Asn)
|
rs727505383
|
|
NM_005633.4(SOS1):c.3436G>C (p.Glu1146Gln)
|
|
|
NM_005633.4(SOS1):c.3439G>A (p.Val1147Met)
|
|
|
NM_005633.4(SOS1):c.3440T>C (p.Val1147Ala)
|
rs1558455818
|
|
NM_005633.4(SOS1):c.345+6G>A
|
|
|
NM_005633.4(SOS1):c.3451C>T (p.Pro1151Ser)
|
rs2124458641
|
|
NM_005633.4(SOS1):c.3472C>T (p.Arg1158Ter)
|
|
|
NM_005633.4(SOS1):c.3473G>A (p.Arg1158Gln)
|
|
|
NM_005633.4(SOS1):c.347A>T (p.Glu116Val)
|
rs2124607524
|
|
NM_005633.4(SOS1):c.3481T>C (p.Ser1161Pro)
|
|
|
NM_005633.4(SOS1):c.3485C>T (p.Ala1162Val)
|
rs1022820895
|
|
NM_005633.4(SOS1):c.3494A>C (p.Glu1165Ala)
|
|
|
NM_005633.4(SOS1):c.34A>G (p.Ser12Gly)
|
|
|
NM_005633.4(SOS1):c.3511-14_3511-10del
|
rs760713912
|
|
NM_005633.4(SOS1):c.3511A>G (p.Ile1171Val)
|
|
|
NM_005633.4(SOS1):c.3512T>G (p.Ile1171Ser)
|
|
|
NM_005633.4(SOS1):c.3520A>G (p.Lys1174Glu)
|
|
|
NM_005633.4(SOS1):c.3526T>A (p.Leu1176Met)
|
|
|
NM_005633.4(SOS1):c.3526T>G (p.Leu1176Val)
|
rs771115389
|
|
NM_005633.4(SOS1):c.3534T>A (p.Ser1178Arg)
|
rs1572796568
|
|
NM_005633.4(SOS1):c.3559C>T (p.Pro1187Ser)
|
|
|
NM_005633.4(SOS1):c.3563C>T (p.Thr1188Ile)
|
|
|
NM_005633.4(SOS1):c.3568A>G (p.Lys1190Glu)
|
rs1553349579
|
|
NM_005633.4(SOS1):c.356G>A (p.Gly119Asp)
|
|
|
NM_005633.4(SOS1):c.3575A>G (p.Tyr1192Cys)
|
|
|
NM_005633.4(SOS1):c.3575A>T (p.Tyr1192Phe)
|
|
|
NM_005633.4(SOS1):c.3580C>T (p.Pro1194Ser)
|
|
|
NM_005633.4(SOS1):c.3584G>A (p.Arg1195Gln)
|
|
|
NM_005633.4(SOS1):c.3598_3599delinsAC (p.Asp1200Thr)
|
rs1572796492
|
|
NM_005633.4(SOS1):c.3600C>A (p.Asp1200Glu)
|
rs141594736
|
|
NM_005633.4(SOS1):c.3601C>T (p.Arg1201Trp)
|
rs752395541
|
|
NM_005633.4(SOS1):c.3609_3614del (p.Ile1204_Ser1205del)
|
|
|
NM_005633.4(SOS1):c.3624T>C (p.Pro1208=)
|
rs763107563
|
|
NM_005633.4(SOS1):c.3644C>T (p.Pro1215Leu)
|
rs730881050
|
|
NM_005633.4(SOS1):c.3646C>A (p.Pro1216Thr)
|
rs762129481
|
|
NM_005633.4(SOS1):c.3658G>A (p.Val1220Met)
|
rs776814547
|
|
NM_005633.4(SOS1):c.3665C>T (p.Thr1222Ile)
|
|
|
NM_005633.4(SOS1):c.3667C>T (p.Pro1223Ser)
|
rs1353982573
|
|
NM_005633.4(SOS1):c.3671A>T (p.Asp1224Val)
|
|
|
NM_005633.4(SOS1):c.3673G>A (p.Val1225Ile)
|
|
|
NM_005633.4(SOS1):c.3688C>T (p.Pro1230Ser)
|
|
|
NM_005633.4(SOS1):c.3697C>G (p.Leu1233Val)
|
|
|
NM_005633.4(SOS1):c.3709C>T (p.Pro1237Ser)
|
rs371408734
|
|
NM_005633.4(SOS1):c.3718A>G (p.Lys1240Glu)
|
|
|
NM_005633.4(SOS1):c.371A>G (p.His124Arg)
|
rs2124607473
|
|
NM_005633.4(SOS1):c.3724A>G (p.Ser1242Gly)
|
rs1293079271
|
|
NM_005633.4(SOS1):c.3724dup (p.Ser1242fs)
|
rs1558454973
|
|
NM_005633.4(SOS1):c.3731A>G (p.His1244Arg)
|
|
|
NM_005633.4(SOS1):c.3741C>T (p.Ala1247=)
|
rs1668549002
|
|
NM_005633.4(SOS1):c.3748C>T (p.Pro1250Ser)
|
rs1668548624
|
|
NM_005633.4(SOS1):c.3753C>G (p.Asn1251Lys)
|
rs2124454963
|
|
NM_005633.4(SOS1):c.3764C>G (p.Pro1255Arg)
|
rs1376446157
|
|
NM_005633.4(SOS1):c.3770C>T (p.Thr1257Ile)
|
rs962478091
|
|
NM_005633.4(SOS1):c.3775C>G (p.Pro1259Ala)
|
|
|
NM_005633.4(SOS1):c.3778C>G (p.Pro1260Ala)
|
rs779336305
|
|
NM_005633.4(SOS1):c.3781C>G (p.Pro1261Ala)
|
|
|
NM_005633.4(SOS1):c.3781C>T (p.Pro1261Ser)
|
|
|
NM_005633.4(SOS1):c.3793T>G (p.Ser1265Ala)
|
rs886056023
|
|
NM_005633.4(SOS1):c.3799C>T (p.His1267Tyr)
|
|
|
NM_005633.4(SOS1):c.37G>C (p.Glu13Gln)
|
|
|
NM_005633.4(SOS1):c.3802G>C (p.Gly1268Arg)
|
|
|
NM_005633.4(SOS1):c.3808A>G (p.Arg1270Gly)
|
|
|
NM_005633.4(SOS1):c.3832T>A (p.Leu1278Met)
|
|
|
NM_005633.4(SOS1):c.3838C>G (p.Gln1280Glu)
|
rs548519280
|
|
NM_005633.4(SOS1):c.3839AAG[3] (p.Glu1281dup)
|
rs1175436231
|
|
NM_005633.4(SOS1):c.3841G>A (p.Glu1281Lys)
|
|
|
NM_005633.4(SOS1):c.3857C>G (p.Ser1286Cys)
|
rs374341202
|
|
NM_005633.4(SOS1):c.3866G>A (p.Gly1289Glu)
|
|
|
NM_005633.4(SOS1):c.3869C>T (p.Pro1290Leu)
|
|
|
NM_005633.4(SOS1):c.388A>G (p.Ile130Val)
|
rs2124607438
|
|
NM_005633.4(SOS1):c.38A>G (p.Glu13Gly)
|
rs2148243276
|
|
NM_005633.4(SOS1):c.3901C>G (p.His1301Asp)
|
|
|
NM_005633.4(SOS1):c.3901C>T (p.His1301Tyr)
|
|
|
NM_005633.4(SOS1):c.3914T>G (p.Leu1305Arg)
|
|
|
NM_005633.4(SOS1):c.392T>G (p.Val131Gly)
|
|
|
NM_005633.4(SOS1):c.3935G>C (p.Arg1312Thr)
|
|
|
NM_005633.4(SOS1):c.3944C>G (p.Thr1315Arg)
|
rs779904535
|
|
NM_005633.4(SOS1):c.3947A>C (p.His1316Pro)
|
|
|
NM_005633.4(SOS1):c.3950C>T (p.Pro1317Leu)
|
rs2124454104
|
|
NM_005633.4(SOS1):c.3955A>G (p.Met1319Val)
|
|
|
NM_005633.4(SOS1):c.3956T>G (p.Met1319Arg)
|
rs730881036
|
|
NM_005633.4(SOS1):c.3958C>G (p.His1320Asp)
|
|
|
NM_005633.4(SOS1):c.3959A>C (p.His1320Pro)
|
|
|
NM_005633.4(SOS1):c.3960C>G (p.His1320Gln)
|
rs1553349464
|
|
NM_005633.4(SOS1):c.3962G>C (p.Arg1321Thr)
|
rs1054147959
|
|
NM_005633.4(SOS1):c.3964G>A (p.Asp1322Asn)
|
rs1167931335
|
|
NM_005633.4(SOS1):c.3967G>C (p.Gly1323Arg)
|
rs2124454028
|
|
NM_005633.4(SOS1):c.3971C>G (p.Pro1324Arg)
|
rs727503434
|
|
NM_005633.4(SOS1):c.3980T>C (p.Leu1327Ser)
|
|
|
NM_005633.4(SOS1):c.3987T>A (p.Asn1329Lys)
|
rs936986823
|
|
NM_005633.4(SOS1):c.3998C>T (p.Ser1333Phe)
|
rs2124453911
|
|
NM_005633.4(SOS1):c.40G>A (p.Glu14Lys)
|
|
|
NM_005633.4(SOS1):c.427A>G (p.Lys143Glu)
|
rs1671228827
|
|
NM_005633.4(SOS1):c.433G>A (p.Val145Ile)
|
|
|
NM_005633.4(SOS1):c.440A>T (p.Asn147Ile)
|
|
|
NM_005633.4(SOS1):c.457del (p.Arg153fs)
|
|
|
NM_005633.4(SOS1):c.458G>A (p.Arg153Gln)
|
|
|
NM_005633.4(SOS1):c.482A>G (p.Asp161Gly)
|
|
|
NM_005633.4(SOS1):c.487A>G (p.Lys163Glu)
|
rs886042206
|
|
NM_005633.4(SOS1):c.493G>A (p.Ala165Thr)
|
|
|
NM_005633.4(SOS1):c.494C>G (p.Ala165Gly)
|
rs1558492346
|
|
NM_005633.4(SOS1):c.4C>A (p.Gln2Lys)
|
rs587781174
|
|
NM_005633.4(SOS1):c.500G>A (p.Cys167Tyr)
|
rs768975865
|
|
NM_005633.4(SOS1):c.503C>T (p.Ala168Val)
|
|
|
NM_005633.4(SOS1):c.505G>C (p.Asp169His)
|
|
|
NM_005633.4(SOS1):c.511-4A>G
|
rs2124603917
|
|
NM_005633.4(SOS1):c.512T>G (p.Val171Gly)
|
rs397517174
|
|
NM_005633.4(SOS1):c.524T>C (p.Met175Thr)
|
rs2124603907
|
|
NM_005633.4(SOS1):c.538G>A (p.Val180Ile)
|
|
|
NM_005633.4(SOS1):c.541G>A (p.Glu181Lys)
|
rs1671148501
|
|
NM_005633.4(SOS1):c.542A>G (p.Glu181Gly)
|
|
|
NM_005633.4(SOS1):c.543A>C (p.Glu181Asp)
|
rs201068374
|
|
NM_005633.4(SOS1):c.544G>A (p.Asp182Asn)
|
rs1553362279
|
|
NM_005633.4(SOS1):c.548T>C (p.Ile183Thr)
|
rs772569423
|
|
NM_005633.4(SOS1):c.548_552delinsATATATTA (p.Ile183_Asn184delinsAsnIleLeu)
|
|
|
NM_005633.4(SOS1):c.54G>C (p.Lys18Asn)
|
|
|
NM_005633.4(SOS1):c.554T>C (p.Ile185Thr)
|
|
|
NM_005633.4(SOS1):c.558_562del (p.Leu186fs)
|
rs1553362269
|
|
NM_005633.4(SOS1):c.576G>C (p.Glu192Asp)
|
|
|
NM_005633.4(SOS1):c.599C>T (p.Thr200Ile)
|
rs143007609
|
|
NM_005633.4(SOS1):c.5A>T (p.Gln2Leu)
|
rs886056026
|
|
NM_005633.4(SOS1):c.608A>G (p.Asp203Gly)
|
|
|
NM_005633.4(SOS1):c.61G>A (p.Gly21Arg)
|
rs771423136
|
|
NM_005633.4(SOS1):c.646A>T (p.Ile216Leu)
|
|
|
NM_005633.4(SOS1):c.647T>C (p.Ile216Thr)
|
|
|
NM_005633.4(SOS1):c.64C>G (p.Leu22Val)
|
|
|
NM_005633.4(SOS1):c.668T>C (p.Ile223Thr)
|
rs397517176
|
|
NM_005633.4(SOS1):c.670A>G (p.Lys224Glu)
|
rs889231089
|
|
NM_005633.4(SOS1):c.681A>C (p.Arg227Ser)
|
|
|
NM_005633.4(SOS1):c.688T>C (p.Phe230Leu)
|
rs397517177
|
|
NM_005633.4(SOS1):c.691G>A (p.Val231Ile)
|
rs1671141416
|
|
NM_005633.4(SOS1):c.701C>T (p.Ser234Leu)
|
rs2124603499
|
|
NM_005633.4(SOS1):c.70G>C (p.Val24Leu)
|
|
|
NM_005633.4(SOS1):c.715G>C (p.Ala239Pro)
|
|
|
NM_005633.4(SOS1):c.720+1G>A
|
|
|
NM_005633.4(SOS1):c.720T>C (p.Asn240=)
|
rs779699814
|
|
NM_005633.4(SOS1):c.730A>G (p.Asn244Asp)
|
rs1671008499
|
|
NM_005633.4(SOS1):c.734T>C (p.Ile245Thr)
|
rs2124597097
|
|
NM_005633.4(SOS1):c.735A>G (p.Ile245Met)
|
rs2124597094
|
|
NM_005633.4(SOS1):c.742C>T (p.Arg248Cys)
|
rs1671008126
|
|
NM_005633.4(SOS1):c.743G>T (p.Arg248Leu)
|
rs775052125
|
|
NM_005633.4(SOS1):c.746T>C (p.Ile249Thr)
|
rs1324979194
|
|
NM_005633.4(SOS1):c.754A>G (p.Ile252Val)
|
rs1158811958
|
|
NM_005633.4(SOS1):c.76G>T (p.Ala26Ser)
|
|
|
NM_005633.4(SOS1):c.774G>C (p.Lys258Asn)
|
rs1671006816
|
|
NM_005633.4(SOS1):c.782G>A (p.Gly261Asp)
|
|
|
NM_005633.4(SOS1):c.788T>C (p.Ile263Thr)
|
rs1310500908
|
|
NM_005633.4(SOS1):c.796A>G (p.Thr266Ala)
|
|
|
NM_005633.4(SOS1):c.797_799del (p.Thr266_Val267delinsIle)
|
|
|
NM_005633.4(SOS1):c.800T>C (p.Val267Ala)
|
|
|
NM_005633.4(SOS1):c.800T>G (p.Val267Gly)
|
rs748234666
|
|
NM_005633.4(SOS1):c.805A>G (p.Met269Val)
|
|
|
NM_005633.4(SOS1):c.809C>G (p.Thr270Arg)
|
|
|
NM_005633.4(SOS1):c.818G>A (p.Gly273Asp)
|
|
|
NM_005633.4(SOS1):c.829C>A (p.Pro277Thr)
|
rs1057517871
|
|
NM_005633.4(SOS1):c.844T>C (p.Cys282Arg)
|
rs1671004485
|
|
NM_005633.4(SOS1):c.845G>T (p.Cys282Phe)
|
|
|
NM_005633.4(SOS1):c.847T>A (p.Phe283Ile)
|
rs1222945881
|
|
NM_005633.4(SOS1):c.848T>C (p.Phe283Ser)
|
rs1572855029
|
|
NM_005633.4(SOS1):c.864+5G>C
|
rs1671003663
|
|
NM_005633.4(SOS1):c.868C>A (p.Leu290Met)
|
|
|
NM_005633.4(SOS1):c.86A>C (p.Lys29Thr)
|
|
|
NM_005633.4(SOS1):c.87+6G>C
|
rs777383378
|
|
NM_005633.4(SOS1):c.87+6G>T
|
rs777383378
|
|
NM_005633.4(SOS1):c.88-3T>C
|
|
|
NM_005633.4(SOS1):c.888A>C (p.Glu296Asp)
|
|
|
NM_005633.4(SOS1):c.8C>T (p.Ala3Val)
|
|
|
NM_005633.4(SOS1):c.906T>G (p.Ile302Met)
|
rs2124562866
|
|
NM_005633.4(SOS1):c.911G>C (p.Arg304Pro)
|
|
|
NM_005633.4(SOS1):c.919T>A (p.Phe307Ile)
|
rs1670310935
|
|
NM_005633.4(SOS1):c.922C>T (p.His308Tyr)
|
|
|
NM_005633.4(SOS1):c.946T>A (p.Ser316Thr)
|
rs762569805
|
|
NM_005633.4(SOS1):c.961G>A (p.Ala321Thr)
|
rs1558480612
|
|
NM_005633.4(SOS1):c.967T>C (p.Tyr323His)
|
rs1670309576
|
|
NM_005633.4(SOS1):c.976-3dup
|
rs745490729
|
|
NM_005633.4(SOS1):c.982G>A (p.Gly328Ser)
|
|
|
NM_005633.4(SOS1):c.982G>C (p.Gly328Arg)
|
|
|
NM_006270.5(RRAS):c.115G>T (p.Gly39Cys)
|
rs1349125359
|
|
NM_006270.5(RRAS):c.12_13delinsAA (p.Ala5Thr)
|
|
|
NM_006270.5(RRAS):c.147C>A (p.Phe49Leu)
|
rs2081014653
|
|
NM_006270.5(RRAS):c.153+17C>A
|
rs376005750
|
|
NM_006270.5(RRAS):c.182C>A (p.Thr61Asn)
|
|
|
NM_006270.5(RRAS):c.1A>G (p.Met1Val)
|
|
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NM_006270.5(RRAS):c.1A>T (p.Met1Leu)
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|
NM_006270.5(RRAS):c.209G>A (p.Cys70Tyr)
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|
NM_006270.5(RRAS):c.227C>T (p.Pro76Leu)
|
rs756447228
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|
NM_006270.5(RRAS):c.241+5G>A
|
rs2081000124
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|
NM_006270.5(RRAS):c.241+6G>A
|
rs925991568
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|
NM_006270.5(RRAS):c.241+6G>C
|
rs925991568
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NM_006270.5(RRAS):c.253G>A (p.Ala85Thr)
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|
|
NM_006270.5(RRAS):c.262del (p.Glu88fs)
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|
NM_006270.5(RRAS):c.274G>A (p.Ala92Thr)
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NM_006270.5(RRAS):c.289T>C (p.Tyr97His)
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NM_006270.5(RRAS):c.28G>A (p.Gly10Arg)
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NM_006270.5(RRAS):c.292A>G (p.Met98Val)
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|
NM_006270.5(RRAS):c.295C>T (p.Arg99Cys)
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NM_006270.5(RRAS):c.29G>C (p.Gly10Ala)
|
rs2081015676
|
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NM_006270.5(RRAS):c.2T>A (p.Met1Lys)
|
rs928367564
|
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NM_006270.5(RRAS):c.319G>A (p.Val107Met)
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|
NM_006270.5(RRAS):c.337C>T (p.Arg113Trp)
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NM_006270.5(RRAS):c.345-14G>A
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NM_006270.5(RRAS):c.356T>G (p.Val119Gly)
|
rs2122419368
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NM_006270.5(RRAS):c.367T>A (p.Phe123Ile)
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NM_006270.5(RRAS):c.371C>G (p.Thr124Arg)
|
rs369508242
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NM_006270.5(RRAS):c.382C>T (p.Arg128Trp)
|
rs1379523599
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NM_006270.5(RRAS):c.395G>A (p.Arg132His)
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NM_006270.5(RRAS):c.412G>T (p.Val138Leu)
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rs2122419131
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NM_006270.5(RRAS):c.436C>A (p.Leu146Met)
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NM_006270.5(RRAS):c.43C>T (p.Arg15Trp)
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NM_006270.5(RRAS):c.449G>C (p.Arg150Pro)
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rs1017555483
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NM_006270.5(RRAS):c.44G>A (p.Arg15Gln)
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NM_006270.5(RRAS):c.44G>C (p.Arg15Pro)
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NM_006270.5(RRAS):c.454-6C>T
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rs1568436933
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NM_006270.5(RRAS):c.454G>A (p.Val152Ile)
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NM_006270.5(RRAS):c.472_473insTT (p.Ser158fs)
|
rs760978291
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NM_006270.5(RRAS):c.475G>C (p.Ala159Pro)
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NM_006270.5(RRAS):c.484G>A (p.Ala162Thr)
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NM_006270.5(RRAS):c.493C>G (p.His165Asp)
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NM_006270.5(RRAS):c.498G>A (p.Val166=)
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NM_006270.5(RRAS):c.50G>T (p.Gly17Val)
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NM_006270.5(RRAS):c.526C>T (p.Arg176Cys)
|
rs775719606
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NM_006270.5(RRAS):c.533A>C (p.Asn178Thr)
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NM_006270.5(RRAS):c.541G>A (p.Glu181Lys)
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NM_006270.5(RRAS):c.541G>C (p.Glu181Gln)
|
rs1428526675
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NM_006270.5(RRAS):c.553C>A (p.Gln185Lys)
|
rs2122416729
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NM_006270.5(RRAS):c.560T>C (p.Val187Ala)
|
rs1599813084
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NM_006270.5(RRAS):c.563G>A (p.Arg188Gln)
|
rs374621936
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NM_006270.5(RRAS):c.571C>T (p.Arg191Trp)
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NM_006270.5(RRAS):c.572+3G>A
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NM_006270.5(RRAS):c.572+5G>A
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NM_006270.5(RRAS):c.572G>A (p.Arg191Gln)
|
rs759803129
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NM_006270.5(RRAS):c.572G>T (p.Arg191Leu)
|
rs759803129
|
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NM_006270.5(RRAS):c.576A>G (p.Lys192=)
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NM_006270.5(RRAS):c.599C>T (p.Pro200Leu)
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NM_006270.5(RRAS):c.610A>G (p.Ser204Gly)
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NM_006270.5(RRAS):c.623A>G (p.Lys208Arg)
|
rs1568436746
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NM_006270.5(RRAS):c.643T>C (p.Cys215Arg)
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NM_006270.5(RRAS):c.67G>A (p.Asp23Asn)
|
rs2081015208
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NM_006270.5(RRAS):c.70C>T (p.Pro24Ser)
|
rs2122429906
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NM_006270.5(RRAS):c.74dup (p.Pro26fs)
|
rs755237250
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NM_006270.5(RRAS):c.77C>T (p.Pro26Leu)
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NM_006270.5(RRAS):c.84G>C (p.Glu28Asp)
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NM_006270.5(RRAS):c.98T>C (p.Val33Ala)
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rs2122429748
|
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NM_006767.4(LZTR1):c.1141G>C (p.Ala381Pro)
|
rs1224523480
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NM_006767.4(LZTR1):c.1145C>T (p.Ser382Leu)
|
rs762889850
|
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NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys)
|
rs747430075
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NM_006767.4(LZTR1):c.1235G>A (p.Arg412His)
|
rs935736801
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NM_006767.4(LZTR1):c.1254G>T (p.Arg418Ser)
|
rs746064505
|
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NM_006767.4(LZTR1):c.1382C>A (p.Ala461Asp)
|
rs1569156890
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NM_006767.4(LZTR1):c.1428G>A (p.Gln476=)
|
rs2147967090
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NM_006767.4(LZTR1):c.1430C>G (p.Ala477Gly)
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NM_006767.4(LZTR1):c.1485G>A (p.Glu495=)
|
rs1265536815
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NM_006767.4(LZTR1):c.1585T>C (p.Tyr529His)
|
rs767374538
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NM_006767.4(LZTR1):c.163C>T (p.Arg55Trp)
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NM_006767.4(LZTR1):c.1667G>A (p.Ser556Asn)
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|
|
NM_006767.4(LZTR1):c.1685_1702dup (p.Arg567_Gln568insLeuGluGlnLeuCysArg)
|
rs1924752851
|
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NM_006767.4(LZTR1):c.1700G>A (p.Arg567His)
|
rs372417941
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NM_006767.4(LZTR1):c.1739T>C (p.Leu580Pro)
|
rs1555928697
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|
NM_006767.4(LZTR1):c.1750G>A (p.Glu584Lys)
|
rs369697241
|
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NM_006767.4(LZTR1):c.1996T>G (p.Phe666Val)
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|
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NM_006767.4(LZTR1):c.2070-12C>A
|
rs779677120
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NM_006767.4(LZTR1):c.209A>T (p.Lys70Met)
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|
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NM_006767.4(LZTR1):c.2102C>T (p.Pro701Leu)
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NM_006767.4(LZTR1):c.2245T>C (p.Tyr749His)
|
rs1601723615
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NM_006767.4(LZTR1):c.22G>C (p.Gly8Arg)
|
rs575193991
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NM_006767.4(LZTR1):c.2325G>T (p.Gln775His)
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NM_006767.4(LZTR1):c.2350C>T (p.Gln784Ter)
|
rs1489766065
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NM_006767.4(LZTR1):c.2470C>G (p.Leu824Val)
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|
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NM_006767.4(LZTR1):c.2509G>A (p.Gly837Ser)
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rs1924904363
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NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala)
|
rs756485244
|
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NM_006767.4(LZTR1):c.271A>G (p.Met91Val)
|
rs1135401945
|
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NM_006767.4(LZTR1):c.272T>C (p.Met91Thr)
|
rs1555927321
|
|
NM_006767.4(LZTR1):c.274C>A (p.Leu92Ile)
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NM_006767.4(LZTR1):c.295G>T (p.Asp99Tyr)
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|
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NM_006767.4(LZTR1):c.322G>A (p.Ala108Thr)
|
rs1358951592
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NM_006767.4(LZTR1):c.360C>A (p.His120Gln)
|
rs1249605552
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NM_006767.4(LZTR1):c.370G>A (p.Val124Ile)
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|
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NM_006767.4(LZTR1):c.404G>T (p.Gly135Val)
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rs1425031926
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NM_006767.4(LZTR1):c.443A>G (p.Asn148Ser)
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|
|
NM_006767.4(LZTR1):c.527C>T (p.Ser176Leu)
|
rs2147962674
|
|
NM_006767.4(LZTR1):c.58G>A (p.Ala20Thr)
|
rs1924227635
|
|
NM_006767.4(LZTR1):c.759C>A (p.Asn253Lys)
|
rs2147964108
|
|
NM_006767.4(LZTR1):c.851G>A (p.Arg284His)
|
rs768361273
|
|
NM_006767.4(LZTR1):c.888C>T (p.Leu296=)
|
rs772839774
|
|
NM_006767.4(LZTR1):c.895_898del (p.Phe299fs)
|
rs1924613524
|
|
NM_006912.6(RIT1):c.10G>C (p.Gly4Arg)
|
rs2102591257
|
|
NM_006912.6(RIT1):c.112A>G (p.Thr38Ala)
|
rs1557962699
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NM_006912.6(RIT1):c.113C>A (p.Thr38Asn)
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|
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NM_006912.6(RIT1):c.116T>A (p.Met39Lys)
|
rs2102590945
|
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NM_006912.6(RIT1):c.116T>C (p.Met39Thr)
|
rs2102590945
|
|
NM_006912.6(RIT1):c.11G>A (p.Gly4Glu)
|
rs2102591253
|
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NM_006912.6(RIT1):c.125T>C (p.Ile42Thr)
|
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NM_006912.6(RIT1):c.128G>C (p.Ser43Thr)
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NM_006912.6(RIT1):c.133C>G (p.Arg45Gly)
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NM_006912.6(RIT1):c.134G>T (p.Arg45Leu)
|
rs1673569021
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NM_006912.6(RIT1):c.139C>A (p.Pro47Thr)
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|
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NM_006912.6(RIT1):c.145G>C (p.Asp49His)
|
rs2102590904
|
|
NM_006912.6(RIT1):c.146A>T (p.Asp49Val)
|
|
|
NM_006912.6(RIT1):c.14C>T (p.Thr5Ile)
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NM_006912.6(RIT1):c.151G>T (p.Asp51Tyr)
|
rs869025190
|
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NM_006912.6(RIT1):c.152A>T (p.Asp51Val)
|
|
|
NM_006912.6(RIT1):c.153T>A (p.Asp51Glu)
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|
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NM_006912.6(RIT1):c.153T>G (p.Asp51Glu)
|
rs1571999275
|
|
NM_006912.6(RIT1):c.162T>A (p.Ile54=)
|
|
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NM_006912.6(RIT1):c.163+5G>T
|
rs1673568021
|
|
NM_006912.6(RIT1):c.17G>C (p.Arg6Pro)
|
|
|
NM_006912.6(RIT1):c.206C>A (p.Ala69Asp)
|
|
|
NM_006912.6(RIT1):c.211C>G (p.Leu71Val)
|
|
|
NM_006912.6(RIT1):c.212_213del (p.Leu71fs)
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|
|
NM_006912.6(RIT1):c.229_234dup (p.Ala77_Gly78dup)
|
rs1673399028
|
|
NM_006912.6(RIT1):c.22G>T (p.Val8Phe)
|
|
|
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu)
|
rs1557960268
|
|
NM_006912.6(RIT1):c.235C>G (p.Gln79Glu)
|
|
|
NM_006912.6(RIT1):c.238-2dup
|
rs1298539810
|
|
NM_006912.6(RIT1):c.23T>C (p.Val8Ala)
|
|
|
NM_006912.6(RIT1):c.253A>G (p.Met85Val)
|
|
|
NM_006912.6(RIT1):c.256C>T (p.Arg86Trp)
|
|
|
NM_006912.6(RIT1):c.259G>C (p.Asp87His)
|
rs886041414
|
|
NM_006912.6(RIT1):c.274G>T (p.Ala92Ser)
|
|
|
NM_006912.6(RIT1):c.292A>G (p.Ile98Val)
|
rs2102584814
|
|
NM_006912.6(RIT1):c.292A>T (p.Ile98Phe)
|
|
|
NM_006912.6(RIT1):c.29G>C (p.Ser10Thr)
|
|
|
NM_006912.6(RIT1):c.304A>G (p.Ile102Val)
|
rs886041962
|
|
NM_006912.6(RIT1):c.309G>A (p.Thr103=)
|
rs370396152
|
|
NM_006912.6(RIT1):c.310G>A (p.Asp104Asn)
|
|
|
NM_006912.6(RIT1):c.313C>T (p.Arg105Cys)
|
|
|
NM_006912.6(RIT1):c.326A>T (p.His109Leu)
|
rs1407666045
|
|
NM_006912.6(RIT1):c.335G>A (p.Arg112His)
|
|
|
NM_006912.6(RIT1):c.338A>T (p.Glu113Val)
|
|
|
NM_006912.6(RIT1):c.340T>C (p.Phe114Leu)
|
|
|
NM_006912.6(RIT1):c.359G>A (p.Arg120Gln)
|
|
|
NM_006912.6(RIT1):c.365G>A (p.Arg122Gln)
|
|
|
NM_006912.6(RIT1):c.365G>T (p.Arg122Leu)
|
rs777520196
|
|
NM_006912.6(RIT1):c.374A>G (p.Asp125Gly)
|
|
|
NM_006912.6(RIT1):c.376G>A (p.Asp126Asn)
|
|
|
NM_006912.6(RIT1):c.379A>G (p.Thr127Ala)
|
|
|
NM_006912.6(RIT1):c.401A>G (p.Asn134Ser)
|
|
|
NM_006912.6(RIT1):c.413T>G (p.Leu138Arg)
|
|
|
NM_006912.6(RIT1):c.417A>T (p.Lys139Asn)
|
|
|
NM_006912.6(RIT1):c.433A>G (p.Thr145Ala)
|
|
|
NM_006912.6(RIT1):c.446G>C (p.Gly149Ala)
|
|
|
NM_006912.6(RIT1):c.470G>A (p.Ser157Asn)
|
|
|
NM_006912.6(RIT1):c.488C>T (p.Thr163Ile)
|
rs2102581107
|
|
NM_006912.6(RIT1):c.491C>G (p.Ser164Cys)
|
|
|
NM_006912.6(RIT1):c.4G>A (p.Asp2Asn)
|
rs924364497
|
|
NM_006912.6(RIT1):c.503G>A (p.Arg168His)
|
|
|
NM_006912.6(RIT1):c.505T>A (p.Tyr169Asn)
|
|
|
NM_006912.6(RIT1):c.509A>G (p.Tyr170Cys)
|
|
|
NM_006912.6(RIT1):c.50G>A (p.Gly17Glu)
|
|
|
NM_006912.6(RIT1):c.532C>G (p.Leu178Val)
|
rs730881013
|
|
NM_006912.6(RIT1):c.535G>A (p.Val179Ile)
|
|
|
NM_006912.6(RIT1):c.538C>T (p.Arg180Trp)
|
|
|
NM_006912.6(RIT1):c.546A>G (p.Ile182Met)
|
rs1673291260
|
|
NM_006912.6(RIT1):c.547C>T (p.Arg183Cys)
|
|
|
NM_006912.6(RIT1):c.550A>G (p.Arg184Gly)
|
|
|
NM_006912.6(RIT1):c.559A>C (p.Lys187Gln)
|
|
|
NM_006912.6(RIT1):c.561G>C (p.Lys187Asn)
|
|
|
NM_006912.6(RIT1):c.565G>A (p.Ala189Thr)
|
|
|
NM_006912.6(RIT1):c.566C>T (p.Ala189Val)
|
|
|
NM_006912.6(RIT1):c.572T>A (p.Leu191Gln)
|
|
|
NM_006912.6(RIT1):c.578T>C (p.Met193Thr)
|
|
|
NM_006912.6(RIT1):c.578T>G (p.Met193Arg)
|
|
|
NM_006912.6(RIT1):c.587A>C (p.Lys196Thr)
|
|
|
NM_006912.6(RIT1):c.588A>C (p.Lys196Asn)
|
|
|
NM_006912.6(RIT1):c.589T>C (p.Ser197Pro)
|
rs1673289658
|
|
NM_006912.6(RIT1):c.598A>C (p.Lys200Gln)
|
|
|
NM_006912.6(RIT1):c.602A>G (p.Asn201Ser)
|
|
|
NM_006912.6(RIT1):c.604_605del (p.Ser202fs)
|
|
|
NM_006912.6(RIT1):c.607G>A (p.Val203Ile)
|
|
|
NM_006912.6(RIT1):c.617G>A (p.Arg206Lys)
|
|
|
NM_006912.6(RIT1):c.617G>C (p.Arg206Thr)
|
|
|
NM_006912.6(RIT1):c.618G>C (p.Arg206Ser)
|
|
|
NM_006912.6(RIT1):c.634del (p.Arg212fs)
|
|
|
NM_006912.6(RIT1):c.638del (p.Lys213fs)
|
|
|
NM_006912.6(RIT1):c.644_647del (p.Lys215fs)
|
rs766063111
|
|
NM_006912.6(RIT1):c.645del (p.Asp216fs)
|
rs1673288090
|
|
NM_006912.6(RIT1):c.649del (p.Ser217fs)
|
rs1673287696
|
|
NM_006912.6(RIT1):c.650C>G (p.Ser217Ter)
|
|
|
NM_006912.6(RIT1):c.7T>G (p.Ser3Ala)
|
rs2102591265
|
|
NM_006939.4(SOS2):c.*234G>A
|
rs2139461520
|
|
NM_006939.4(SOS2):c.1001G>A (p.Arg334His)
|
|
|
NM_006939.4(SOS2):c.1009C>T (p.Leu337Phe)
|
rs1204583343
|
|
NM_006939.4(SOS2):c.1015C>T (p.Arg339Cys)
|
|
|
NM_006939.4(SOS2):c.1016G>A (p.Arg339His)
|
|
|
NM_006939.4(SOS2):c.1022T>C (p.Met341Thr)
|
|
|
NM_006939.4(SOS2):c.1024C>A (p.Leu342Met)
|
|
|
NM_006939.4(SOS2):c.1042T>G (p.Cys348Gly)
|
rs1885462935
|
|
NM_006939.4(SOS2):c.1043G>C (p.Cys348Ser)
|
|
|
NM_006939.4(SOS2):c.1049A>G (p.His350Arg)
|
|
|
NM_006939.4(SOS2):c.1060T>G (p.Leu354Val)
|
|
|
NM_006939.4(SOS2):c.106C>G (p.Pro36Ala)
|
|
|
NM_006939.4(SOS2):c.1084A>G (p.Ser362Gly)
|
|
|
NM_006939.4(SOS2):c.1141C>G (p.Leu381Val)
|
|
|
NM_006939.4(SOS2):c.1153A>G (p.Met385Val)
|
|
|
NM_006939.4(SOS2):c.1159C>A (p.Arg387=)
|
|
|
NM_006939.4(SOS2):c.115T>A (p.Ser39Thr)
|
rs2139796314
|
|
NM_006939.4(SOS2):c.1160G>A (p.Arg387Gln)
|
|
|
NM_006939.4(SOS2):c.1173G>T (p.Gln391His)
|
|
|
NM_006939.4(SOS2):c.1175A>G (p.Tyr392Cys)
|
rs1085307558
|
|
NM_006939.4(SOS2):c.1181C>T (p.Pro394Leu)
|
rs144332746
|
|
NM_006939.4(SOS2):c.1183A>T (p.Arg395Ter)
|
|
|
NM_006939.4(SOS2):c.1185A>C (p.Arg395Ser)
|
|
|
NM_006939.4(SOS2):c.1189C>G (p.Arg397Gly)
|
rs777771444
|
|
NM_006939.4(SOS2):c.1195G>C (p.Gly399Arg)
|
|
|
NM_006939.4(SOS2):c.1196+5T>C
|
|
|
NM_006939.4(SOS2):c.1209C>A (p.Cys403Ter)
|
|
|
NM_006939.4(SOS2):c.1217A>G (p.Tyr406Cys)
|
|
|
NM_006939.4(SOS2):c.1223A>T (p.His408Leu)
|
rs2139630118
|
|
NM_006939.4(SOS2):c.122A>G (p.Asn41Ser)
|
|
|
NM_006939.4(SOS2):c.1230AAG[1] (p.Arg411del)
|
|
|
NM_006939.4(SOS2):c.1235G>T (p.Ser412Ile)
|
|
|
NM_006939.4(SOS2):c.1242C>A (p.His414Gln)
|
|
|
NM_006939.4(SOS2):c.1242C>G (p.His414Gln)
|
|
|
NM_006939.4(SOS2):c.1244T>G (p.Leu415Arg)
|
|
|
NM_006939.4(SOS2):c.1245_1248del (p.Ala416fs)
|
rs2139630042
|
|
NM_006939.4(SOS2):c.1249A>T (p.Ile417Phe)
|
|
|
NM_006939.4(SOS2):c.1251C>G (p.Ile417Met)
|
|
|
NM_006939.4(SOS2):c.1256A>G (p.Lys419Arg)
|
|
|
NM_006939.4(SOS2):c.1259T>C (p.Met420Thr)
|
|
|
NM_006939.4(SOS2):c.1265A>G (p.Glu422Gly)
|
|
|
NM_006939.4(SOS2):c.1266A>C (p.Glu422Asp)
|
rs755550719
|
|
NM_006939.4(SOS2):c.1285G>A (p.Gly429Arg)
|
|
|
NM_006939.4(SOS2):c.1300G>C (p.Asp434His)
|
rs2139629861
|
|
NM_006939.4(SOS2):c.1320T>A (p.Asn440Lys)
|
rs1884941722
|
|
NM_006939.4(SOS2):c.1325T>G (p.Phe442Cys)
|
|
|
NM_006939.4(SOS2):c.1326C>A (p.Phe442Leu)
|
|
|
NM_006939.4(SOS2):c.1327A>C (p.Ile443Leu)
|
|
|
NM_006939.4(SOS2):c.1331T>C (p.Met444Thr)
|
rs1884941577
|
|
NM_006939.4(SOS2):c.1337G>T (p.Gly446Val)
|
|
|
NM_006939.4(SOS2):c.1339C>A (p.Pro447Thr)
|
|
|
NM_006939.4(SOS2):c.133_136del (p.Leu45fs)
|
rs764257310
|
|
NM_006939.4(SOS2):c.1370G>A (p.Arg457Gln)
|
|
|
NM_006939.4(SOS2):c.1375A>G (p.Ile459Val)
|
rs886268693
|
|
NM_006939.4(SOS2):c.137A>C (p.Tyr46Ser)
|
rs1162838729
|
|
NM_006939.4(SOS2):c.137A>G (p.Tyr46Cys)
|
|
|
NM_006939.4(SOS2):c.1393T>G (p.Leu465Val)
|
|
|
NM_006939.4(SOS2):c.13C>G (p.Pro5Ala)
|
|
|
NM_006939.4(SOS2):c.1403G>T (p.Ser468Ile)
|
|
|
NM_006939.4(SOS2):c.1411C>T (p.Pro471Ser)
|
rs1353990634
|
|
NM_006939.4(SOS2):c.1412C>G (p.Pro471Arg)
|
|
|
NM_006939.4(SOS2):c.1427C>T (p.Thr476Ile)
|
rs2139629330
|
|
NM_006939.4(SOS2):c.1429C>T (p.Arg477Trp)
|
rs1555370121
|
|
NM_006939.4(SOS2):c.1445G>T (p.Ser482Ile)
|
rs1195086721
|
|
NM_006939.4(SOS2):c.1463T>G (p.Leu488Ter)
|
|
|
NM_006939.4(SOS2):c.1474T>C (p.Phe492Leu)
|
|
|
NM_006939.4(SOS2):c.1480A>T (p.Met494Leu)
|
rs1884937684
|
|
NM_006939.4(SOS2):c.1492C>G (p.Gln498Glu)
|
|
|
NM_006939.4(SOS2):c.1516T>C (p.Cys506Arg)
|
|
|
NM_006939.4(SOS2):c.1517G>C (p.Cys506Ser)
|
|
|
NM_006939.4(SOS2):c.1532C>G (p.Ala511Gly)
|
|
|
NM_006939.4(SOS2):c.1537G>C (p.Glu513Gln)
|
|
|
NM_006939.4(SOS2):c.1544T>C (p.Val515Ala)
|
rs2139628968
|
|
NM_006939.4(SOS2):c.1550A>C (p.Lys517Thr)
|
rs367970301
|
|
NM_006939.4(SOS2):c.1560C>G (p.Asn520Lys)
|
|
|
NM_006939.4(SOS2):c.1564ATA[1] (p.Ile523del)
|
|
|
NM_006939.4(SOS2):c.1567A>G (p.Ile523Val)
|
rs1884934797
|
|
NM_006939.4(SOS2):c.1585G>C (p.Ala529Pro)
|
rs2139628740
|
|
NM_006939.4(SOS2):c.1586C>T (p.Ala529Val)
|
|
|
NM_006939.4(SOS2):c.1592A>G (p.Glu531Gly)
|
rs778331065
|
|
NM_006939.4(SOS2):c.1599C>A (p.Asn533Lys)
|
rs1484591662
|
|
NM_006939.4(SOS2):c.1606A>G (p.Met536Val)
|
|
|
NM_006939.4(SOS2):c.1609G>A (p.Ala537Thr)
|
|
|
NM_006939.4(SOS2):c.1610C>T (p.Ala537Val)
|
|
|
NM_006939.4(SOS2):c.1612G>A (p.Ala538Thr)
|
|
|
NM_006939.4(SOS2):c.1634G>A (p.Arg545His)
|
|
|
NM_006939.4(SOS2):c.1642C>A (p.Leu548Ile)
|
|
|
NM_006939.4(SOS2):c.1648C>G (p.Arg550Gly)
|
rs1344304906
|
|
NM_006939.4(SOS2):c.1649G>A (p.Arg550Gln)
|
|
|
NM_006939.4(SOS2):c.164T>C (p.Leu55Pro)
|
rs2139796125
|
|
NM_006939.4(SOS2):c.1661C>T (p.Ser554Leu)
|
rs763829729
|
|
NM_006939.4(SOS2):c.166C>T (p.Leu56Phe)
|
|
|
NM_006939.4(SOS2):c.1682A>T (p.Asn561Ile)
|
|
|
NM_006939.4(SOS2):c.1698A>T (p.Arg566Ser)
|
|
|
NM_006939.4(SOS2):c.1705A>G (p.Ser569Gly)
|
|
|
NM_006939.4(SOS2):c.1708C>T (p.Pro570Ser)
|
|
|
NM_006939.4(SOS2):c.1711G>A (p.Glu571Lys)
|
|
|
NM_006939.4(SOS2):c.1721G>A (p.Arg574His)
|
|
|
NM_006939.4(SOS2):c.1726G>A (p.Val576Ile)
|
|
|
NM_006939.4(SOS2):c.1727T>G (p.Val576Gly)
|
|
|
NM_006939.4(SOS2):c.172A>G (p.Lys58Glu)
|
rs2139796115
|
|
NM_006939.4(SOS2):c.1734del (p.Asp579fs)
|
rs2139628200
|
|
NM_006939.4(SOS2):c.1740_1741del (p.Glu581fs)
|
|
|
NM_006939.4(SOS2):c.1775G>C (p.Ser592Thr)
|
|
|
NM_006939.4(SOS2):c.1781G>T (p.Ser594Ile)
|
|
|
NM_006939.4(SOS2):c.1786A>G (p.Ile596Val)
|
|
|
NM_006939.4(SOS2):c.1788C>G (p.Ile596Met)
|
rs2139627990
|
|
NM_006939.4(SOS2):c.1810G>T (p.Val604Leu)
|
rs769210427
|
|
NM_006939.4(SOS2):c.1811T>C (p.Val604Ala)
|
|
|
NM_006939.4(SOS2):c.181A>G (p.Met61Val)
|
rs774761716
|
|
NM_006939.4(SOS2):c.1832T>C (p.Leu611Ser)
|
|
|
NM_006939.4(SOS2):c.1838A>G (p.Tyr613Cys)
|
|
|
NM_006939.4(SOS2):c.1852+2T>C
|
|
|
NM_006939.4(SOS2):c.1852+3A>G
|
rs758436817
|
|
NM_006939.4(SOS2):c.1852+4T>C
|
|
|
NM_006939.4(SOS2):c.1852+6T>C
|
|
|
NM_006939.4(SOS2):c.185C>T (p.Ala62Val)
|
rs1886594687
|
|
NM_006939.4(SOS2):c.1861T>G (p.Phe621Val)
|
rs1555370029
|
|
NM_006939.4(SOS2):c.1867C>T (p.Arg623Cys)
|
|
|
NM_006939.4(SOS2):c.1888C>T (p.Arg630Cys)
|
|
|
NM_006939.4(SOS2):c.1900A>G (p.Lys634Glu)
|
rs1884893175
|
|
NM_006939.4(SOS2):c.1915C>A (p.Leu639Met)
|
|
|
NM_006939.4(SOS2):c.1934+1G>A
|
|
|
NM_006939.4(SOS2):c.1934+6A>C
|
|
|
NM_006939.4(SOS2):c.1934G>T (p.Arg645Leu)
|
|
|
NM_006939.4(SOS2):c.1939G>A (p.Glu647Lys)
|
|
|
NM_006939.4(SOS2):c.1952C>G (p.Pro651Arg)
|
|
|
NM_006939.4(SOS2):c.1957C>T (p.Pro653Ser)
|
|
|
NM_006939.4(SOS2):c.1966G>T (p.Ala656Ser)
|
|
|
NM_006939.4(SOS2):c.19C>A (p.Pro7Thr)
|
|
|
NM_006939.4(SOS2):c.1_20dup (p.Tyr8fs)
|
|
|
NM_006939.4(SOS2):c.2000C>T (p.Pro667Leu)
|
|
|
NM_006939.4(SOS2):c.2002A>T (p.Ile668Phe)
|
|
|
NM_006939.4(SOS2):c.2021G>A (p.Arg674Lys)
|
rs371205081
|
|
NM_006939.4(SOS2):c.2026C>T (p.Arg676Cys)
|
|
|
NM_006939.4(SOS2):c.2027G>T (p.Arg676Leu)
|
|
|
NM_006939.4(SOS2):c.2039T>C (p.Val680Ala)
|
|
|
NM_006939.4(SOS2):c.2045C>T (p.Pro682Leu)
|
|
|
NM_006939.4(SOS2):c.2047G>A (p.Val683Ile)
|
rs1884843220
|
|
NM_006939.4(SOS2):c.205G>A (p.Asp69Asn)
|
|
|
NM_006939.4(SOS2):c.2104T>C (p.Phe702Leu)
|
rs2139604459
|
|
NM_006939.4(SOS2):c.2113G>T (p.Asp705Tyr)
|
rs1057518079
|
|
NM_006939.4(SOS2):c.2128G>C (p.Glu710Gln)
|
rs768829374
|
|
NM_006939.4(SOS2):c.2148T>G (p.Ile716Met)
|
|
|
NM_006939.4(SOS2):c.2161+7_2161+11del
|
|
|
NM_006939.4(SOS2):c.2166A>T (p.Lys722Asn)
|
rs769787486
|
|
NM_006939.4(SOS2):c.2168C>T (p.Ala723Val)
|
rs1566827698
|
|
NM_006939.4(SOS2):c.2180G>T (p.Trp727Leu)
|
|
|
NM_006939.4(SOS2):c.2182G>A (p.Val728Ile)
|
rs2139595594
|
|
NM_006939.4(SOS2):c.2193T>G (p.Ile731Met)
|
|
|
NM_006939.4(SOS2):c.220G>A (p.Val74Ile)
|
rs1886470934
|
|
NM_006939.4(SOS2):c.2217G>T (p.Lys739Asn)
|
rs186110427
|
|
NM_006939.4(SOS2):c.2220A>T (p.Gln740His)
|
rs576277421
|
|
NM_006939.4(SOS2):c.2221G>A (p.Ala741Thr)
|
rs1594973893
|
|
NM_006939.4(SOS2):c.2231_2232inv (p.Asn744Ser)
|
|
|
NM_006939.4(SOS2):c.2236G>A (p.Val746Ile)
|
|
|
NM_006939.4(SOS2):c.223C>G (p.Gln75Glu)
|
|
|
NM_006939.4(SOS2):c.2240G>A (p.Ser747Asn)
|
|
|
NM_006939.4(SOS2):c.2241C>T (p.Ser747=)
|
|
|
NM_006939.4(SOS2):c.2249T>G (p.Ile750Ser)
|
|
|
NM_006939.4(SOS2):c.224A>G (p.Gln75Arg)
|
rs2139783861
|
|
NM_006939.4(SOS2):c.2272C>G (p.Pro758Ala)
|
|
|
NM_006939.4(SOS2):c.2281T>C (p.Trp761Arg)
|
|
|
NM_006939.4(SOS2):c.2284C>A (p.His762Asn)
|
|
|
NM_006939.4(SOS2):c.2290A>C (p.Ser764Arg)
|
|
|
NM_006939.4(SOS2):c.2304G>T (p.Gln768His)
|
rs778281839
|
|
NM_006939.4(SOS2):c.2307T>A (p.Phe769Leu)
|
|
|
NM_006939.4(SOS2):c.2312_2313insTGTCCT (p.Thr771_Phe772insValLeu)
|
|
|
NM_006939.4(SOS2):c.2316T>G (p.Phe772Leu)
|
rs2139594970
|
|
NM_006939.4(SOS2):c.2318A>C (p.Asp773Ala)
|
rs1884612400
|
|
NM_006939.4(SOS2):c.2320C>G (p.Leu774Val)
|
|
|
NM_006939.4(SOS2):c.2345T>C (p.Ile782Thr)
|
|
|
NM_006939.4(SOS2):c.2347G>C (p.Ala783Pro)
|
|
|
NM_006939.4(SOS2):c.2348C>T (p.Ala783Val)
|
|
|
NM_006939.4(SOS2):c.2351G>A (p.Arg784His)
|
|
|
NM_006939.4(SOS2):c.2354A>G (p.Gln785Arg)
|
|
|
NM_006939.4(SOS2):c.2359A>C (p.Thr787Pro)
|
|
|
NM_006939.4(SOS2):c.2362C>G (p.Leu788Val)
|
rs771681478
|
|
NM_006939.4(SOS2):c.2369A>G (p.Glu790Gly)
|
|
|
NM_006939.4(SOS2):c.2384+18A>G
|
|
|
NM_006939.4(SOS2):c.2413A>G (p.Ser805Gly)
|
|
|
NM_006939.4(SOS2):c.2414G>A (p.Ser805Asn)
|
|
|
NM_006939.4(SOS2):c.2435A>G (p.Lys812Arg)
|
|
|
NM_006939.4(SOS2):c.2453A>G (p.Asn818Ser)
|
|
|
NM_006939.4(SOS2):c.2466G>A (p.Met822Ile)
|
|
|
NM_006939.4(SOS2):c.2485C>T (p.Leu829Phe)
|
|
|
NM_006939.4(SOS2):c.2505A>G (p.Lys835=)
|
|
|
NM_006939.4(SOS2):c.2509A>G (p.Ile837Val)
|
rs1469543967
|
|
NM_006939.4(SOS2):c.2531A>C (p.Glu844Ala)
|
|
|
NM_006939.4(SOS2):c.2539G>T (p.Val847Leu)
|
|
|
NM_006939.4(SOS2):c.2540T>G (p.Val847Gly)
|
rs2139576871
|
|
NM_006939.4(SOS2):c.2551A>C (p.Ser851Arg)
|
|
|
NM_006939.4(SOS2):c.2561T>C (p.Ile854Thr)
|
|
|
NM_006939.4(SOS2):c.2562A>G (p.Ile854Met)
|
|
|
NM_006939.4(SOS2):c.2569C>G (p.Leu857Val)
|
|
|
NM_006939.4(SOS2):c.2572C>A (p.Gln858Lys)
|
|
|
NM_006939.4(SOS2):c.2585A>G (p.Asp862Gly)
|
|
|
NM_006939.4(SOS2):c.263C>T (p.Ala88Val)
|
|
|
NM_006939.4(SOS2):c.2654A>G (p.Asp885Gly)
|
|
|
NM_006939.4(SOS2):c.2667G>T (p.Glu889Asp)
|
|
|
NM_006939.4(SOS2):c.2668-4del
|
rs2139556831
|
|
NM_006939.4(SOS2):c.2668G>A (p.Ala890Thr)
|
|
|
NM_006939.4(SOS2):c.2672T>A (p.Leu891Gln)
|
|
|
NM_006939.4(SOS2):c.2707G>C (p.Val903Leu)
|
|
|
NM_006939.4(SOS2):c.2711A>G (p.Glu904Gly)
|
|
|
NM_006939.4(SOS2):c.2723A>G (p.Asp908Gly)
|
|
|
NM_006939.4(SOS2):c.272A>C (p.Gln91Pro)
|
|
|
NM_006939.4(SOS2):c.2735A>G (p.Lys912Arg)
|
|
|
NM_006939.4(SOS2):c.2741T>A (p.Leu914Gln)
|
|
|
NM_006939.4(SOS2):c.2754_2758del (p.Lys918fs)
|
|
|
NM_006939.4(SOS2):c.2756C>T (p.Ser919Leu)
|
|
|
NM_006939.4(SOS2):c.2762A>G (p.Asn921Ser)
|
|
|
NM_006939.4(SOS2):c.2774T>C (p.Val925Ala)
|
|
|
NM_006939.4(SOS2):c.2784T>A (p.Phe928Leu)
|
|
|
NM_006939.4(SOS2):c.2785+18_2785+19delinsTT
|
|
|
NM_006939.4(SOS2):c.2786-1G>A
|
|
|
NM_006939.4(SOS2):c.280A>G (p.Ile94Val)
|
|
|
NM_006939.4(SOS2):c.2815G>A (p.Glu939Lys)
|
|
|
NM_006939.4(SOS2):c.2838A>T (p.Leu946Phe)
|
|
|
NM_006939.4(SOS2):c.2857T>A (p.Leu953Ile)
|
|
|
NM_006939.4(SOS2):c.2864A>G (p.Asn955Ser)
|
|
|
NM_006939.4(SOS2):c.290G>A (p.Arg97Gln)
|
rs777574895
|
|
NM_006939.4(SOS2):c.2919G>C (p.Gln973His)
|
rs1884164664
|
|
NM_006939.4(SOS2):c.2939G>A (p.Arg980Gln)
|
rs2139550610
|
|
NM_006939.4(SOS2):c.2953A>G (p.Met985Val)
|
|
|
NM_006939.4(SOS2):c.2954T>C (p.Met985Thr)
|
rs2139550560
|
|
NM_006939.4(SOS2):c.2967del (p.Phe989fs)
|
|
|
NM_006939.4(SOS2):c.296G>A (p.Arg99Gln)
|
rs369592322
|
|
NM_006939.4(SOS2):c.2973C>G (p.Asn991Lys)
|
rs1883999905
|
|
NM_006939.4(SOS2):c.2974C>T (p.Leu992Phe)
|
|
|
NM_006939.4(SOS2):c.2979C>G (p.Asn993Lys)
|
rs768403750
|
|
NM_006939.4(SOS2):c.2980C>G (p.Pro994Ala)
|
rs1883999639
|
|
NM_006939.4(SOS2):c.2981C>G (p.Pro994Arg)
|
rs1883999558
|
|
NM_006939.4(SOS2):c.2983A>G (p.Met995Val)
|
rs933544183
|
|
NM_006939.4(SOS2):c.2986G>A (p.Gly996Arg)
|
rs780598157
|
|
NM_006939.4(SOS2):c.2989A>G (p.Ser997Gly)
|
|
|
NM_006939.4(SOS2):c.2990G>T (p.Ser997Ile)
|
|
|
NM_006939.4(SOS2):c.2992G>A (p.Ala998Thr)
|
|
|
NM_006939.4(SOS2):c.2996C>A (p.Ser999Tyr)
|
|
|
NM_006939.4(SOS2):c.2T>C (p.Met1Thr)
|
|
|
NM_006939.4(SOS2):c.3002A>G (p.Lys1001Arg)
|
|
|
NM_006939.4(SOS2):c.3016T>C (p.Tyr1006His)
|
|
|
NM_006939.4(SOS2):c.3023del (p.Phe1008fs)
|
rs2139528773
|
|
NM_006939.4(SOS2):c.3027C>G (p.Asn1009Lys)
|
|
|
NM_006939.4(SOS2):c.3028A>G (p.Lys1010Glu)
|
rs181284424
|
|
NM_006939.4(SOS2):c.3042T>G (p.Ile1014Met)
|
rs1447097552
|
|
NM_006939.4(SOS2):c.3047C>G (p.Pro1016Arg)
|
|
|
NM_006939.4(SOS2):c.304C>T (p.Pro102Ser)
|
rs2139783538
|
|
NM_006939.4(SOS2):c.3055T>C (p.Cys1019Arg)
|
|
|
NM_006939.4(SOS2):c.3064C>A (p.Pro1022Thr)
|
rs2139528591
|
|
NM_006939.4(SOS2):c.3067C>T (p.Pro1023Ser)
|
rs1287471667
|
|
NM_006939.4(SOS2):c.3077C>T (p.Pro1026Leu)
|
rs2139513281
|
|
NM_006939.4(SOS2):c.3080G>A (p.Arg1027Lys)
|
|
|
NM_006939.4(SOS2):c.3089C>G (p.Thr1030Ser)
|
|
|
NM_006939.4(SOS2):c.3102dup (p.Ser1035fs)
|
|
|
NM_006939.4(SOS2):c.3107C>G (p.Pro1036Arg)
|
|
|
NM_006939.4(SOS2):c.3114A>G (p.Ile1038Met)
|
rs1883841371
|
|
NM_006939.4(SOS2):c.3116G>A (p.Arg1039Lys)
|
|
|
NM_006939.4(SOS2):c.3142A>T (p.Thr1048Ser)
|
|
|
NM_006939.4(SOS2):c.3145T>C (p.Ser1049Pro)
|
rs2139513028
|
|
NM_006939.4(SOS2):c.3152C>T (p.Thr1051Ile)
|
|
|
NM_006939.4(SOS2):c.3165C>A (p.His1055Gln)
|
|
|
NM_006939.4(SOS2):c.3172C>T (p.Pro1058Ser)
|
rs753668226
|
|
NM_006939.4(SOS2):c.3173C>G (p.Pro1058Arg)
|
|
|
NM_006939.4(SOS2):c.3173C>T (p.Pro1058Leu)
|
|
|
NM_006939.4(SOS2):c.3190T>A (p.Cys1064Ser)
|
|
|
NM_006939.4(SOS2):c.3190T>C (p.Cys1064Arg)
|
rs1224696199
|
|
NM_006939.4(SOS2):c.3194A>C (p.Lys1065Thr)
|
rs1286858047
|
|
NM_006939.4(SOS2):c.3195A>C (p.Lys1065Asn)
|
rs2139512774
|
|
NM_006939.4(SOS2):c.3208C>T (p.Arg1070Trp)
|
|
|
NM_006939.4(SOS2):c.3209G>A (p.Arg1070Gln)
|
|
|
NM_006939.4(SOS2):c.3247C>T (p.Pro1083Ser)
|
|
|
NM_006939.4(SOS2):c.3250A>C (p.Thr1084Pro)
|
|
|
NM_006939.4(SOS2):c.3251C>T (p.Thr1084Ile)
|
|
|
NM_006939.4(SOS2):c.3256C>T (p.Pro1086Ser)
|
|
|
NM_006939.4(SOS2):c.3260A>G (p.Asn1087Ser)
|
|
|
NM_006939.4(SOS2):c.3263C>T (p.Thr1088Ile)
|
|
|
NM_006939.4(SOS2):c.3271A>T (p.Thr1091Ser)
|
rs1210330980
|
|
NM_006939.4(SOS2):c.3284C>G (p.Ser1095Cys)
|
|
|
NM_006939.4(SOS2):c.3286G>A (p.Ala1096Thr)
|
|
|
NM_006939.4(SOS2):c.3295G>C (p.Asp1099His)
|
|
|
NM_006939.4(SOS2):c.3301A>C (p.Ser1101Arg)
|
|
|
NM_006939.4(SOS2):c.3302G>A (p.Ser1101Asn)
|
rs1419463844
|
|
NM_006939.4(SOS2):c.3303T>G (p.Ser1101Arg)
|
rs1317870927
|
|
NM_006939.4(SOS2):c.3313G>A (p.Asp1105Asn)
|
|
|
NM_006939.4(SOS2):c.3332C>T (p.Ser1111Phe)
|
|
|
NM_006939.4(SOS2):c.3337+4A>G
|
rs924531063
|
|
NM_006939.4(SOS2):c.3341G>A (p.Ser1114Asn)
|
|
|
NM_006939.4(SOS2):c.3344A>G (p.Asn1115Ser)
|
|
|
NM_006939.4(SOS2):c.3347G>A (p.Ser1116Asn)
|
|
|
NM_006939.4(SOS2):c.3358C>T (p.Pro1120Ser)
|
|
|
NM_006939.4(SOS2):c.3379+4_3379+7del
|
rs2139510043
|
|
NM_006939.4(SOS2):c.3379+6T>C
|
rs2139510050
|
|
NM_006939.4(SOS2):c.3380-3_3380-2del
|
rs1883462827
|
|
NM_006939.4(SOS2):c.3383C>G (p.Ser1128Cys)
|
rs1566815476
|
|
NM_006939.4(SOS2):c.3392G>A (p.Ser1131Asn)
|
|
|
NM_006939.4(SOS2):c.3395C>T (p.Ser1132Leu)
|
rs2139472231
|
|
NM_006939.4(SOS2):c.33del (p.Phe11fs)
|
|
|
NM_006939.4(SOS2):c.3408A>T (p.Leu1136Phe)
|
|
|
NM_006939.4(SOS2):c.3410A>G (p.His1137Arg)
|
|
|
NM_006939.4(SOS2):c.3416T>G (p.Leu1139Arg)
|
|
|
NM_006939.4(SOS2):c.3443C>G (p.Pro1148Arg)
|
rs1375287247
|
|
NM_006939.4(SOS2):c.3443_3454del (p.Pro1148_Pro1151del)
|
rs777487865
|
|
NM_006939.4(SOS2):c.344A>G (p.Lys115Arg)
|
|
|
NM_006939.4(SOS2):c.345+3A>G
|
|
|
NM_006939.4(SOS2):c.345+5C>T
|
|
|
NM_006939.4(SOS2):c.345+6A>G
|
rs2139783376
|
|
NM_006939.4(SOS2):c.3452C>G (p.Pro1151Arg)
|
|
|
NM_006939.4(SOS2):c.3463T>A (p.Phe1155Ile)
|
|
|
NM_006939.4(SOS2):c.3468T>A (p.Asp1156Glu)
|
|
|
NM_006939.4(SOS2):c.3489+4dup
|
|
|
NM_006939.4(SOS2):c.3490-2dup
|
rs2139465845
|
|
NM_006939.4(SOS2):c.3506A>T (p.Asp1169Val)
|
|
|
NM_006939.4(SOS2):c.3526C>A (p.Pro1176Thr)
|
|
|
NM_006939.4(SOS2):c.3530C>T (p.Pro1177Leu)
|
rs1566814839
|
|
NM_006939.4(SOS2):c.3540TCC[2] (p.Pro1183del)
|
|
|
NM_006939.4(SOS2):c.3544C>A (p.Pro1182Thr)
|
|
|
NM_006939.4(SOS2):c.3544C>T (p.Pro1182Ser)
|
|
|
NM_006939.4(SOS2):c.3560C>T (p.Pro1187Leu)
|
rs1594951526
|
|
NM_006939.4(SOS2):c.3571G>T (p.Val1191Phe)
|
rs934357386
|
|
NM_006939.4(SOS2):c.3574C>T (p.Pro1192Ser)
|
|
|
NM_006939.4(SOS2):c.3578C>T (p.Thr1193Ile)
|
|
|
NM_006939.4(SOS2):c.3583G>A (p.Ala1195Thr)
|
|
|
NM_006939.4(SOS2):c.3593G>C (p.Gly1198Ala)
|
rs2139465314
|
|
NM_006939.4(SOS2):c.3604A>G (p.Ser1202Gly)
|
|
|
NM_006939.4(SOS2):c.3613C>A (p.Pro1205Thr)
|
|
|
NM_006939.4(SOS2):c.3619_3620delinsGT (p.Pro1207Val)
|
|
|
NM_006939.4(SOS2):c.3621_3632del (p.Pro1208_Pro1211del)
|
|
|
NM_006939.4(SOS2):c.3631C>G (p.Pro1211Ala)
|
|
|
NM_006939.4(SOS2):c.3637_3693dup (p.Pro1231_Phe1232insProAspThrProProProValProLeuArgProProGluHisPheIleAsnCysPro)
|
|
|
NM_006939.4(SOS2):c.3638C>G (p.Pro1213Arg)
|
|
|
NM_006939.4(SOS2):c.3655G>A (p.Val1219Ile)
|
|
|
NM_006939.4(SOS2):c.3664C>T (p.Arg1222Trp)
|
|
|
NM_006939.4(SOS2):c.3665G>C (p.Arg1222Pro)
|
|
|
NM_006939.4(SOS2):c.3665G>T (p.Arg1222Leu)
|
|
|
NM_006939.4(SOS2):c.3671C>T (p.Pro1224Leu)
|
rs1883396353
|
|
NM_006939.4(SOS2):c.3677A>G (p.His1226Arg)
|
|
|
NM_006939.4(SOS2):c.3681T>A (p.Phe1227Leu)
|
|
|
NM_006939.4(SOS2):c.3700C>G (p.Leu1234Val)
|
|
|
NM_006939.4(SOS2):c.3707C>T (p.Pro1236Leu)
|
rs1403796339
|
|
NM_006939.4(SOS2):c.3719G>C (p.Gly1240Ala)
|
|
|
NM_006939.4(SOS2):c.3721C>T (p.His1241Tyr)
|
|
|
NM_006939.4(SOS2):c.3741C>G (p.Asp1247Glu)
|
rs1883393016
|
|
NM_006939.4(SOS2):c.374A>G (p.His125Arg)
|
|
|
NM_006939.4(SOS2):c.3756T>G (p.Ile1252Met)
|
|
|
NM_006939.4(SOS2):c.3767C>A (p.Pro1256Gln)
|
|
|
NM_006939.4(SOS2):c.3772T>G (p.Ser1258Ala)
|
rs1344396759
|
|
NM_006939.4(SOS2):c.3781A>C (p.Thr1261Pro)
|
rs1555367637
|
|
NM_006939.4(SOS2):c.3785C>T (p.Pro1262Leu)
|
rs2139464111
|
|
NM_006939.4(SOS2):c.3794C>T (p.Thr1265Ile)
|
rs2139464050
|
|
NM_006939.4(SOS2):c.3797C>T (p.Pro1266Leu)
|
rs2139464021
|
|
NM_006939.4(SOS2):c.3800C>T (p.Ser1267Phe)
|
|
|
NM_006939.4(SOS2):c.3808G>A (p.Val1270Ile)
|
|
|
NM_006939.4(SOS2):c.3814C>A (p.Arg1272Ser)
|
rs1005498417
|
|
NM_006939.4(SOS2):c.3817C>T (p.Arg1273Ter)
|
|
|
NM_006939.4(SOS2):c.3818G>A (p.Arg1273Gln)
|
rs58365465
|
|
NM_006939.4(SOS2):c.3832A>G (p.Ser1278Gly)
|
|
|
NM_006939.4(SOS2):c.3842A>G (p.Gln1281Arg)
|
|
|
NM_006939.4(SOS2):c.3850C>G (p.Leu1284Val)
|
|
|
NM_006939.4(SOS2):c.3862C>T (p.Pro1288Ser)
|
|
|
NM_006939.4(SOS2):c.3869C>A (p.Pro1290His)
|
rs1244881868
|
|
NM_006939.4(SOS2):c.3872_3873del (p.Pro1291fs)
|
|
|
NM_006939.4(SOS2):c.3898C>T (p.Pro1300Ser)
|
|
|
NM_006939.4(SOS2):c.390T>G (p.Ile130Met)
|
rs1886426829
|
|
NM_006939.4(SOS2):c.3920del (p.Pro1307fs)
|
|
|
NM_006939.4(SOS2):c.3930C>G (p.Tyr1310Ter)
|
rs1214781595
|
|
NM_006939.4(SOS2):c.3934C>T (p.Arg1312Trp)
|
|
|
NM_006939.4(SOS2):c.3952C>A (p.Pro1318Thr)
|
|
|
NM_006939.4(SOS2):c.3953C>A (p.Pro1318Gln)
|
|
|
NM_006939.4(SOS2):c.3957G>T (p.Leu1319Phe)
|
rs2139462748
|
|
NM_006939.4(SOS2):c.3958T>C (p.Tyr1320His)
|
rs950322034
|
|
NM_006939.4(SOS2):c.395C>T (p.Ala132Val)
|
|
|
NM_006939.4(SOS2):c.3965T>C (p.Leu1322Pro)
|
|
|
NM_006939.4(SOS2):c.3968C>T (p.Pro1323Leu)
|
rs886041929
|
|
NM_006939.4(SOS2):c.3980del (p.Asn1327fs)
|
|
|
NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg)
|
|
|
NM_006939.4(SOS2):c.42G>T (p.Glu14Asp)
|
|
|
NM_006939.4(SOS2):c.431T>A (p.Leu144Ter)
|
|
|
NM_006939.4(SOS2):c.439A>G (p.Asn147Asp)
|
|
|
NM_006939.4(SOS2):c.449T>C (p.Phe150Ser)
|
rs1886424881
|
|
NM_006939.4(SOS2):c.460C>A (p.His154Asn)
|
|
|
NM_006939.4(SOS2):c.462T>G (p.His154Gln)
|
|
|
NM_006939.4(SOS2):c.468A>C (p.Glu156Asp)
|
|
|
NM_006939.4(SOS2):c.472T>C (p.Ser158Pro)
|
|
|
NM_006939.4(SOS2):c.476A>G (p.Gln159Arg)
|
|
|
NM_006939.4(SOS2):c.490G>A (p.Val164Met)
|
|
|
NM_006939.4(SOS2):c.496A>G (p.Met166Val)
|
rs1555322175
|
|
NM_006939.4(SOS2):c.49C>T (p.Pro17Ser)
|
rs750929787
|
|
NM_006939.4(SOS2):c.502G>A (p.Ala168Thr)
|
rs2139778845
|
|
NM_006939.4(SOS2):c.503C>T (p.Ala168Val)
|
|
|
NM_006939.4(SOS2):c.507T>A (p.Asp169Glu)
|
|
|
NM_006939.4(SOS2):c.510+3_510+6del
|
|
|
NM_006939.4(SOS2):c.511G>A (p.Val171Ile)
|
|
|
NM_006939.4(SOS2):c.516G>C (p.Leu172Phe)
|
rs561507728
|
|
NM_006939.4(SOS2):c.521A>G (p.Asp174Gly)
|
rs2139734704
|
|
NM_006939.4(SOS2):c.523A>C (p.Met175Leu)
|
rs1336823806
|
|
NM_006939.4(SOS2):c.523A>G (p.Met175Val)
|
|
|
NM_006939.4(SOS2):c.530A>G (p.Asp177Gly)
|
|
|
NM_006939.4(SOS2):c.534G>T (p.Gln178His)
|
rs2139734609
|
|
NM_006939.4(SOS2):c.541A>C (p.Ile181Leu)
|
|
|
NM_006939.4(SOS2):c.541A>G (p.Ile181Val)
|
|
|
NM_006939.4(SOS2):c.541A>T (p.Ile181Leu)
|
|
|
NM_006939.4(SOS2):c.542T>C (p.Ile181Thr)
|
rs1886006429
|
|
NM_006939.4(SOS2):c.545G>T (p.Gly182Val)
|
rs149487643
|
|
NM_006939.4(SOS2):c.549G>T (p.Leu183Phe)
|
rs137961578
|
|
NM_006939.4(SOS2):c.551T>C (p.Val184Ala)
|
|
|
NM_006939.4(SOS2):c.554C>A (p.Ser185Tyr)
|
rs1203751748
|
|
NM_006939.4(SOS2):c.556C>G (p.Leu186Val)
|
rs2139734457
|
|
NM_006939.4(SOS2):c.561T>G (p.Cys187Trp)
|
|
|
NM_006939.4(SOS2):c.563A>G (p.Glu188Gly)
|
|
|
NM_006939.4(SOS2):c.572C>A (p.Pro191His)
|
rs72681869
|
|
NM_006939.4(SOS2):c.574A>C (p.Ser192Arg)
|
rs1886005265
|
|
NM_006939.4(SOS2):c.574A>G (p.Ser192Gly)
|
rs1886005265
|
|
NM_006939.4(SOS2):c.577TCT[1] (p.Ser194del)
|
rs769352438
|
|
NM_006939.4(SOS2):c.583G>A (p.Gly195Ser)
|
|
|
NM_006939.4(SOS2):c.584G>C (p.Gly195Ala)
|
|
|
NM_006939.4(SOS2):c.586G>C (p.Glu196Gln)
|
|
|
NM_006939.4(SOS2):c.622G>T (p.Ala208Ser)
|
rs61755579
|
|
NM_006939.4(SOS2):c.662T>C (p.Ile221Thr)
|
rs2139733977
|
|
NM_006939.4(SOS2):c.674G>T (p.Arg225Leu)
|
|
|
NM_006939.4(SOS2):c.680C>A (p.Ala227Asp)
|
rs756565236
|
|
NM_006939.4(SOS2):c.69G>C (p.Leu23Phe)
|
|
|
NM_006939.4(SOS2):c.710del (p.Pro237fs)
|
rs2139733738
|
|
NM_006939.4(SOS2):c.714+1G>A
|
|
|
NM_006939.4(SOS2):c.715-12_715-8del
|
|
|
NM_006939.4(SOS2):c.715-18_715-17inv
|
|
|
NM_006939.4(SOS2):c.715-3C>T
|
|
|
NM_006939.4(SOS2):c.715G>A (p.Asp239Asn)
|
|
|
NM_006939.4(SOS2):c.718A>G (p.Ile240Val)
|
rs1885779266
|
|
NM_006939.4(SOS2):c.726G>T (p.Lys242Asn)
|
|
|
NM_006939.4(SOS2):c.762T>A (p.Thr254=)
|
|
|
NM_006939.4(SOS2):c.772T>G (p.Leu258Val)
|
|
|
NM_006939.4(SOS2):c.775G>A (p.Gly259Ser)
|
|
|
NM_006939.4(SOS2):c.803C>T (p.Thr268Ile)
|
|
|
NM_006939.4(SOS2):c.806A>G (p.Asp269Gly)
|
|
|
NM_006939.4(SOS2):c.817C>G (p.Pro273Ala)
|
|
|
NM_006939.4(SOS2):c.835A>C (p.Ser279Arg)
|
|
|
NM_006939.4(SOS2):c.838T>C (p.Cys280Arg)
|
rs2139709714
|
|
NM_006939.4(SOS2):c.83G>A (p.Arg28Gln)
|
|
|
NM_006939.4(SOS2):c.842T>C (p.Phe281Ser)
|
rs1555371627
|
|
NM_006939.4(SOS2):c.858+5G>C
|
|
|
NM_006939.4(SOS2):c.866C>T (p.Ala289Val)
|
|
|
NM_006939.4(SOS2):c.87+1G>T
|
|
|
NM_006939.4(SOS2):c.892C>T (p.Gln298Ter)
|
|
|
NM_006939.4(SOS2):c.898A>G (p.Ile300Val)
|
rs1248787575
|
|
NM_006939.4(SOS2):c.907C>T (p.Pro303Ser)
|
|
|
NM_006939.4(SOS2):c.908C>T (p.Pro303Leu)
|
|
|
NM_006939.4(SOS2):c.932A>C (p.Lys311Thr)
|
|
|
NM_006939.4(SOS2):c.940G>A (p.Ala314Thr)
|
rs1885702958
|
|
NM_006939.4(SOS2):c.944G>A (p.Arg315Lys)
|
rs2139702139
|
|
NM_006939.4(SOS2):c.949G>A (p.Ala317Thr)
|
rs2139702095
|
|
NM_006939.4(SOS2):c.955G>A (p.Ala319Thr)
|
|
|
NM_006939.4(SOS2):c.956C>T (p.Ala319Val)
|
rs1329480973
|
|
NM_006939.4(SOS2):c.961C>T (p.His321Tyr)
|
|
|
NM_006939.4(SOS2):c.969+5A>G
|
|
|
NM_006939.4(SOS2):c.969+6C>T
|
rs1194667646
|
|
NM_006939.4(SOS2):c.975T>G (p.Ile325Met)
|
rs2139679163
|
|
NM_006939.4(SOS2):c.995C>G (p.Ala332Gly)
|
|
|
NM_007373.3(SHOC2):c.-346T>G
|
rs1203298501
|
|
NM_007373.4(SHOC2):c.*1218C>T
|
rs886046735
|
|
NM_007373.4(SHOC2):c.*1381G>C
|
rs997392575
|
|
NM_007373.4(SHOC2):c.*1508G>T
|
rs202206864
|
|
NM_007373.4(SHOC2):c.*1575A>G
|
rs886046736
|
|
NM_007373.4(SHOC2):c.*518T>C
|
rs886046731
|
|
NM_007373.4(SHOC2):c.*625del
|
rs886046733
|
|
NM_007373.4(SHOC2):c.*958C>A
|
rs372493479
|
|
NM_007373.4(SHOC2):c.-259G>A
|
rs138612584
|
|
NM_007373.4(SHOC2):c.1004G>A (p.Ser335Asn)
|
rs1590835179
|
|
NM_007373.4(SHOC2):c.102T>G (p.Phe34Leu)
|
|
|
NM_007373.4(SHOC2):c.1035G>T (p.Leu345Phe)
|
|
|
NM_007373.4(SHOC2):c.103G>A (p.Gly35Arg)
|
|
|
NM_007373.4(SHOC2):c.103G>T (p.Gly35Trp)
|
rs751634012
|
|
NM_007373.4(SHOC2):c.1046G>A (p.Gly349Asp)
|
rs1848437298
|
|
NM_007373.4(SHOC2):c.1049G>A (p.Gly350Asp)
|
|
|
NM_007373.4(SHOC2):c.1055C>T (p.Ser352Phe)
|
rs1848437546
|
|
NM_007373.4(SHOC2):c.1072T>C (p.Tyr358His)
|
|
|
NM_007373.4(SHOC2):c.107A>G (p.Lys36Arg)
|
|
|
NM_007373.4(SHOC2):c.1097G>A (p.Arg366Gln)
|
rs1219277268
|
|
NM_007373.4(SHOC2):c.1097G>T (p.Arg366Leu)
|
|
|
NM_007373.4(SHOC2):c.1103A>G (p.Asn368Ser)
|
|
|
NM_007373.4(SHOC2):c.110A>G (p.Glu37Gly)
|
|
|
NM_007373.4(SHOC2):c.1130G>A (p.Arg377Lys)
|
|
|
NM_007373.4(SHOC2):c.1138G>A (p.Val380Ile)
|
|
|
NM_007373.4(SHOC2):c.113G>A (p.Ser38Asn)
|
|
|
NM_007373.4(SHOC2):c.1159A>G (p.Lys387Glu)
|
rs1848438761
|
|
NM_007373.4(SHOC2):c.1161+4A>G
|
|
|
NM_007373.4(SHOC2):c.1161+6C>T
|
|
|
NM_007373.4(SHOC2):c.1164C>A (p.Asp388Glu)
|
|
|
NM_007373.4(SHOC2):c.1166A>G (p.Asn389Ser)
|
rs2134177725
|
|
NM_007373.4(SHOC2):c.1208G>C (p.Ser403Thr)
|
rs1487427017
|
|
NM_007373.4(SHOC2):c.1213G>C (p.Val405Leu)
|
|
|
NM_007373.4(SHOC2):c.1231A>G (p.Thr411Ala)
|
rs730881021
|
|
NM_007373.4(SHOC2):c.126A>T (p.Glu42Asp)
|
|
|
NM_007373.4(SHOC2):c.1284+15G>A
|
rs770745229
|
|
NM_007373.4(SHOC2):c.1292T>C (p.Ile431Thr)
|
|
|
NM_007373.4(SHOC2):c.1297T>C (p.Ser433Pro)
|
|
|
NM_007373.4(SHOC2):c.1300A>G (p.Asn434Asp)
|
|
|
NM_007373.4(SHOC2):c.130A>G (p.Lys44Glu)
|
|
|
NM_007373.4(SHOC2):c.1324C>G (p.His442Asp)
|
|
|
NM_007373.4(SHOC2):c.1325A>T (p.His442Leu)
|
|
|
NM_007373.4(SHOC2):c.1334G>A (p.Gly445Glu)
|
|
|
NM_007373.4(SHOC2):c.134C>G (p.Thr45Ser)
|
|
|
NM_007373.4(SHOC2):c.1356G>C (p.Glu452Asp)
|
rs1047190791
|
|
NM_007373.4(SHOC2):c.1422+9_1422+11del
|
rs750754038
|
|
NM_007373.4(SHOC2):c.1434G>C (p.Leu478Phe)
|
|
|
NM_007373.4(SHOC2):c.1435A>T (p.Thr479Ser)
|
|
|
NM_007373.4(SHOC2):c.1445A>T (p.Gln482Leu)
|
rs1259268451
|
|
NM_007373.4(SHOC2):c.145G>A (p.Asp49Asn)
|
|
|
NM_007373.4(SHOC2):c.1468A>G (p.Ile490Val)
|
|
|
NM_007373.4(SHOC2):c.1474C>A (p.His492Asn)
|
|
|
NM_007373.4(SHOC2):c.1480A>G (p.Thr494Ala)
|
rs1188545694
|
|
NM_007373.4(SHOC2):c.1481C>A (p.Thr494Asn)
|
rs758241851
|
|
NM_007373.4(SHOC2):c.1482dup (p.Asn495Ter)
|
|
|
NM_007373.4(SHOC2):c.1490C>G (p.Thr497Arg)
|
|
|
NM_007373.4(SHOC2):c.1520C>T (p.Thr507Ile)
|
rs2134180790
|
|
NM_007373.4(SHOC2):c.1539T>C (p.Ile513=)
|
|
|
NM_007373.4(SHOC2):c.1544C>T (p.Thr515Ile)
|
|
|
NM_007373.4(SHOC2):c.154G>T (p.Asp52Tyr)
|
|
|
NM_007373.4(SHOC2):c.1555C>G (p.Leu519Val)
|
rs2134182984
|
|
NM_007373.4(SHOC2):c.1580A>T (p.Asn527Ile)
|
|
|
NM_007373.4(SHOC2):c.1582C>G (p.Pro528Ala)
|
rs869025524
|
|
NM_007373.4(SHOC2):c.1582C>T (p.Pro528Ser)
|
rs869025524
|
|
NM_007373.4(SHOC2):c.1592A>G (p.His531Arg)
|
rs1848567648
|
|
NM_007373.4(SHOC2):c.1625A>G (p.Lys542Arg)
|
|
|
NM_007373.4(SHOC2):c.1627C>T (p.Leu543Phe)
|
rs1446237590
|
|
NM_007373.4(SHOC2):c.1637T>G (p.Met546Arg)
|
rs2134183100
|
|
NM_007373.4(SHOC2):c.1669C>T (p.Pro557Ser)
|
rs761448239
|
|
NM_007373.4(SHOC2):c.1689G>T (p.Gly563=)
|
rs759803668
|
|
NM_007373.4(SHOC2):c.1692dup (p.Pro565fs)
|
|
|
NM_007373.4(SHOC2):c.1693C>A (p.Pro565Thr)
|
|
|
NM_007373.4(SHOC2):c.16G>C (p.Gly6Arg)
|
|
|
NM_007373.4(SHOC2):c.1703T>C (p.Ile568Thr)
|
|
|
NM_007373.4(SHOC2):c.1726G>A (p.Gly576Ser)
|
rs1848570319
|
|
NM_007373.4(SHOC2):c.173G>A (p.Ser58Asn)
|
|
|
NM_007373.4(SHOC2):c.1741A>G (p.Met581Val)
|
rs1470655019
|
|
NM_007373.4(SHOC2):c.1743G>A (p.Met581Ile)
|
|
|
NM_007373.4(SHOC2):c.1749A>C (p.Ter583Cys)
|
|
|
NM_007373.4(SHOC2):c.181C>A (p.Gln61Lys)
|
rs1564714635
|
|
NM_007373.4(SHOC2):c.183A>T (p.Gln61His)
|
|
|
NM_007373.4(SHOC2):c.187G>A (p.Gly63Arg)
|
|
|
NM_007373.4(SHOC2):c.212C>T (p.Thr71Met)
|
|
|
NM_007373.4(SHOC2):c.22G>C (p.Glu8Gln)
|
|
|
NM_007373.4(SHOC2):c.236C>G (p.Pro79Arg)
|
|
|
NM_007373.4(SHOC2):c.238G>A (p.Gly80Arg)
|
rs1847637531
|
|
NM_007373.4(SHOC2):c.242C>T (p.Thr81Ile)
|
rs1359743107
|
|
NM_007373.4(SHOC2):c.254C>T (p.Ser85Phe)
|
rs1847637817
|
|
NM_007373.4(SHOC2):c.258C>A (p.Ser86Arg)
|
|
|
NM_007373.4(SHOC2):c.263C>G (p.Ala88Gly)
|
|
|
NM_007373.4(SHOC2):c.28G>T (p.Asp10Tyr)
|
|
|
NM_007373.4(SHOC2):c.307A>G (p.Met103Val)
|
|
|
NM_007373.4(SHOC2):c.31T>C (p.Ser11Pro)
|
|
|
NM_007373.4(SHOC2):c.321A>C (p.Leu107Phe)
|
|
|
NM_007373.4(SHOC2):c.326A>G (p.Lys109Arg)
|
rs2134121410
|
|
NM_007373.4(SHOC2):c.32C>A (p.Ser11Tyr)
|
rs1381863749
|
|
NM_007373.4(SHOC2):c.332C>G (p.Ser111Cys)
|
rs149084468
|
|
NM_007373.4(SHOC2):c.334A>G (p.Ile112Val)
|
rs1418386730
|
|
NM_007373.4(SHOC2):c.338A>G (p.His113Arg)
|
|
|
NM_007373.4(SHOC2):c.342A>G (p.Ile114Met)
|
rs2134121467
|
|
NM_007373.4(SHOC2):c.425T>G (p.Val142Gly)
|
rs768053004
|
|
NM_007373.4(SHOC2):c.476C>A (p.Thr159Asn)
|
rs758157906
|
|
NM_007373.4(SHOC2):c.47C>G (p.Pro16Arg)
|
|
|
NM_007373.4(SHOC2):c.506A>G (p.Lys169Arg)
|
rs2134121699
|
|
NM_007373.4(SHOC2):c.506_507delinsC (p.Lys169fs)
|
rs1847643137
|
|
NM_007373.4(SHOC2):c.511C>A (p.Leu171Met)
|
rs1847643199
|
|
NM_007373.4(SHOC2):c.514C>T (p.Arg172Trp)
|
rs1057517872
|
|
NM_007373.4(SHOC2):c.515G>A (p.Arg172Gln)
|
|
|
NM_007373.4(SHOC2):c.517A>G (p.Met173Val)
|
rs1057518206
|
|
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile)
|
rs730881020
|
|
NM_007373.4(SHOC2):c.526T>A (p.Leu176Ile)
|
|
|
NM_007373.4(SHOC2):c.527T>C (p.Leu176Ser)
|
rs2134121776
|
|
NM_007373.4(SHOC2):c.52G>C (p.Val18Leu)
|
|
|
NM_007373.4(SHOC2):c.562G>A (p.Val188Met)
|
|
|
NM_007373.4(SHOC2):c.562G>C (p.Val188Leu)
|
|
|
NM_007373.4(SHOC2):c.566A>T (p.Tyr189Phe)
|
rs1847644218
|
|
NM_007373.4(SHOC2):c.568A>G (p.Arg190Gly)
|
|
|
NM_007373.4(SHOC2):c.569G>A (p.Arg190Lys)
|
|
|
NM_007373.4(SHOC2):c.56C>G (p.Pro19Arg)
|
rs1847632082
|
|
NM_007373.4(SHOC2):c.580C>T (p.Leu194Phe)
|
|
|
NM_007373.4(SHOC2):c.584C>T (p.Thr195Ile)
|
|
|
NM_007373.4(SHOC2):c.598C>T (p.Arg200Cys)
|
|
|
NM_007373.4(SHOC2):c.612A>G (p.Ile204Met)
|
|
|
NM_007373.4(SHOC2):c.633C>G (p.Ile211Met)
|
|
|
NM_007373.4(SHOC2):c.644C>G (p.Ser215Ter)
|
|
|
NM_007373.4(SHOC2):c.647A>T (p.Lys216Ile)
|
|
|
NM_007373.4(SHOC2):c.685C>A (p.Gln229Lys)
|
|
|
NM_007373.4(SHOC2):c.713G>A (p.Cys238Tyr)
|
|
|
NM_007373.4(SHOC2):c.71G>A (p.Arg24Lys)
|
rs1564714561
|
|
NM_007373.4(SHOC2):c.721A>G (p.Ile241Val)
|
|
|
NM_007373.4(SHOC2):c.756C>A (p.His252Gln)
|
rs2134149170
|
|
NM_007373.4(SHOC2):c.769A>T (p.Ile257Phe)
|
|
|
NM_007373.4(SHOC2):c.774A>G (p.Gly258=)
|
rs753237615
|
|
NM_007373.4(SHOC2):c.77A>G (p.Lys26Arg)
|
|
|
NM_007373.4(SHOC2):c.794A>C (p.Asn265Thr)
|
|
|
NM_007373.4(SHOC2):c.794A>G (p.Asn265Ser)
|
|
|
NM_007373.4(SHOC2):c.79G>C (p.Glu27Gln)
|
|
|
NM_007373.4(SHOC2):c.806A>G (p.Gln269Arg)
|
rs864309599
|
|
NM_007373.4(SHOC2):c.815A>T (p.Glu272Val)
|
rs2134149258
|
|
NM_007373.4(SHOC2):c.826C>T (p.Leu276Phe)
|
|
|
NM_007373.4(SHOC2):c.836C>T (p.Thr279Ile)
|
rs1848065186
|
|
NM_007373.4(SHOC2):c.841+20A>G
|
|
|
NM_007373.4(SHOC2):c.862C>T (p.Arg288Cys)
|
|
|
NM_007373.4(SHOC2):c.88G>A (p.Ala30Thr)
|
|
|
NM_007373.4(SHOC2):c.892G>A (p.Ala298Thr)
|
|
|
NM_007373.4(SHOC2):c.910G>A (p.Ala304Thr)
|
|
|
NM_007373.4(SHOC2):c.919A>G (p.Ser307Gly)
|
|
|
NM_007373.4(SHOC2):c.91T>C (p.Ser31Pro)
|
|
|
NM_007373.4(SHOC2):c.923C>T (p.Ala308Val)
|
|
|
NM_007373.4(SHOC2):c.937A>C (p.Asn313His)
|
|
|
NM_007373.4(SHOC2):c.950A>G (p.Asn317Ser)
|
rs1060501927
|
|
NM_007373.4(SHOC2):c.973-3_973-2del
|
|
|
NM_007373.4(SHOC2):c.974G>A (p.Ser325Asn)
|
|
|
NM_012250.6(RRAS2):c.560C>G (p.Pro187Arg)
|
|
|
NM_014160.5(MKRN2):c.*1420G>A
|
rs1461713213
|
|
NM_014160.5(MKRN2):c.*1421T>A
|
rs2058212896
|
|
NM_030662.4(MAP2K2):c.1007G>A (p.Gly336Asp)
|
|
|
NM_030662.4(MAP2K2):c.1019C>G (p.Pro340Arg)
|
rs1277686711
|
|
NM_030662.4(MAP2K2):c.1021G>A (p.Asp341Asn)
|
rs564067943
|
|
NM_030662.4(MAP2K2):c.1026C>A (p.Phe342Leu)
|
|
|
NM_030662.4(MAP2K2):c.1031A>G (p.Glu344Gly)
|
|
|
NM_030662.4(MAP2K2):c.1042A>G (p.Lys348Glu)
|
rs1460336485
|
|
NM_030662.4(MAP2K2):c.1043A>G (p.Lys348Arg)
|
|
|
NM_030662.4(MAP2K2):c.1043_1046del (p.Lys348fs)
|
|
|
NM_030662.4(MAP2K2):c.1051A>C (p.Ile351Leu)
|
|
|
NM_030662.4(MAP2K2):c.1073C>T (p.Ala358Val)
|
|
|
NM_030662.4(MAP2K2):c.1085T>G (p.Met362Arg)
|
|
|
NM_030662.4(MAP2K2):c.1087C>T (p.Leu363Phe)
|
rs2145041802
|
|
NM_030662.4(MAP2K2):c.1090A>G (p.Thr364Ala)
|
|
|
NM_030662.4(MAP2K2):c.1100C>A (p.Thr367Asn)
|
rs2145036668
|
|
NM_030662.4(MAP2K2):c.1105A>C (p.Ile369Leu)
|
|
|
NM_030662.4(MAP2K2):c.1106T>C (p.Ile369Thr)
|
rs2145036656
|
|
NM_030662.4(MAP2K2):c.1109A>G (p.Lys370Arg)
|
rs1599278009
|
|
NM_030662.4(MAP2K2):c.1109A>T (p.Lys370Met)
|
rs1599278009
|
|
NM_030662.4(MAP2K2):c.110T>A (p.Leu37Gln)
|
|
|
NM_030662.4(MAP2K2):c.1111C>T (p.Arg371Trp)
|
rs1003521922
|
|
NM_030662.4(MAP2K2):c.1112G>T (p.Arg371Leu)
|
|
|
NM_030662.4(MAP2K2):c.1117G>A (p.Glu373Lys)
|
|
|
NM_030662.4(MAP2K2):c.1117G>C (p.Glu373Gln)
|
|
|
NM_030662.4(MAP2K2):c.1123G>T (p.Glu375Ter)
|
|
|
NM_030662.4(MAP2K2):c.1130T>C (p.Val377Ala)
|
|
|
NM_030662.4(MAP2K2):c.1150T>C (p.Cys384Arg)
|
|
|
NM_030662.4(MAP2K2):c.1151G>A (p.Cys384Tyr)
|
rs2040846395
|
|
NM_030662.4(MAP2K2):c.1157C>A (p.Thr386Asn)
|
|
|
NM_030662.4(MAP2K2):c.1157C>T (p.Thr386Ile)
|
rs2145036510
|
|
NM_030662.4(MAP2K2):c.1170C>G (p.Asn390Lys)
|
|
|
NM_030662.4(MAP2K2):c.1178G>T (p.Gly393Val)
|
|
|
NM_030662.4(MAP2K2):c.1181C>T (p.Thr394Ile)
|
|
|
NM_030662.4(MAP2K2):c.1184C>G (p.Pro395Arg)
|
rs2040845976
|
|
NM_030662.4(MAP2K2):c.1185del (p.Thr396fs)
|
rs2040845949
|
|
NM_030662.4(MAP2K2):c.1190G>T (p.Arg397Leu)
|
|
|
NM_030662.4(MAP2K2):c.1193C>G (p.Thr398Ser)
|
|
|
NM_030662.4(MAP2K2):c.1196C>T (p.Ala399Val)
|
|
|
NM_030662.4(MAP2K2):c.151AAG[1] (p.Lys52del)
|
|
|
NM_030662.4(MAP2K2):c.157C>T (p.Arg53Trp)
|
|
|
NM_030662.4(MAP2K2):c.158G>A (p.Arg53Gln)
|
|
|
NM_030662.4(MAP2K2):c.159del (p.Leu54fs)
|
rs777549760
|
|
NM_030662.4(MAP2K2):c.166G>A (p.Ala56Thr)
|
|
|
NM_030662.4(MAP2K2):c.178C>T (p.Gln60Ter)
|
|
|
NM_030662.4(MAP2K2):c.17A>G (p.Lys6Arg)
|
|
|
NM_030662.4(MAP2K2):c.183A>T (p.Lys61Asn)
|
rs886041310
|
|
NM_030662.4(MAP2K2):c.185C>T (p.Ala62Val)
|
|
|
NM_030662.4(MAP2K2):c.188A>C (p.Lys63Thr)
|
|
|
NM_030662.4(MAP2K2):c.191_192delinsCT (p.Val64Ala)
|
rs1555698682
|
|
NM_030662.4(MAP2K2):c.193G>A (p.Gly65Ser)
|
|
|
NM_030662.4(MAP2K2):c.205G>C (p.Asp69His)
|
|
|
NM_030662.4(MAP2K2):c.208G>A (p.Asp70Asn)
|
|
|
NM_030662.4(MAP2K2):c.209A>G (p.Asp70Gly)
|
|
|
NM_030662.4(MAP2K2):c.214T>G (p.Phe72Val)
|
rs2145080238
|
|
NM_030662.4(MAP2K2):c.22del (p.Val8fs)
|
rs730880519
|
|
NM_030662.4(MAP2K2):c.238G>T (p.Ala80Ser)
|
|
|
NM_030662.4(MAP2K2):c.245A>G (p.Asn82Ser)
|
|
|
NM_030662.4(MAP2K2):c.256G>A (p.Val86Ile)
|
|
|
NM_030662.4(MAP2K2):c.270G>T (p.Gln90His)
|
|
|
NM_030662.4(MAP2K2):c.284G>A (p.Gly95Asp)
|
rs2145079750
|
|
NM_030662.4(MAP2K2):c.288CAT[1] (p.Ile97del)
|
rs1555698652
|
|
NM_030662.4(MAP2K2):c.291C>G (p.Ile97Met)
|
rs200918323
|
|
NM_030662.4(MAP2K2):c.292A>G (p.Met98Val)
|
rs1484288126
|
|
NM_030662.4(MAP2K2):c.300G>T (p.Arg100Ser)
|
rs2041236830
|
|
NM_030662.4(MAP2K2):c.303+6C>T
|
|
|
NM_030662.4(MAP2K2):c.305T>C (p.Leu102Pro)
|
|
|
NM_030662.4(MAP2K2):c.320T>A (p.Ile107Asn)
|
rs1555698037
|
|
NM_030662.4(MAP2K2):c.325C>G (p.Pro109Ala)
|
rs1060502983
|
|
NM_030662.4(MAP2K2):c.331A>T (p.Ile111Phe)
|
rs1555698031
|
|
NM_030662.4(MAP2K2):c.34C>A (p.Leu12Ile)
|
rs2041335933
|
|
NM_030662.4(MAP2K2):c.350G>A (p.Arg117His)
|
|
|
NM_030662.4(MAP2K2):c.351C>G (p.Arg117=)
|
rs777670871
|
|
NM_030662.4(MAP2K2):c.351C>T (p.Arg117=)
|
rs777670871
|
|
NM_030662.4(MAP2K2):c.358C>G (p.Gln120Glu)
|
rs2041142085
|
|
NM_030662.4(MAP2K2):c.376A>C (p.Asn126His)
|
rs1057519806
|
|
NM_030662.4(MAP2K2):c.380C>T (p.Ser127Leu)
|
rs1568260052
|
|
NM_030662.4(MAP2K2):c.386A>C (p.Tyr129Ser)
|
|
|
NM_030662.4(MAP2K2):c.386A>G (p.Tyr129Cys)
|
|
|
NM_030662.4(MAP2K2):c.391G>T (p.Val131Leu)
|
|
|
NM_030662.4(MAP2K2):c.403G>A (p.Gly135Arg)
|
|
|
NM_030662.4(MAP2K2):c.419A>C (p.Asp140Ala)
|
|
|
NM_030662.4(MAP2K2):c.433A>G (p.Ile145Val)
|
rs2041140457
|
|
NM_030662.4(MAP2K2):c.450+3G>A
|
|
|
NM_030662.4(MAP2K2):c.450+5G>A
|
|
|
NM_030662.4(MAP2K2):c.451-6C>G
|
|
|
NM_030662.4(MAP2K2):c.453C>G (p.Asp151Glu)
|
rs17851657
|
|
NM_030662.4(MAP2K2):c.454G>T (p.Gly152Cys)
|
|
|
NM_030662.4(MAP2K2):c.46C>A (p.Pro16Thr)
|
rs904859028
|
|
NM_030662.4(MAP2K2):c.515A>G (p.Lys172Arg)
|
rs1218364046
|
|
NM_030662.4(MAP2K2):c.518T>C (p.Val173Ala)
|
|
|
NM_030662.4(MAP2K2):c.521G>C (p.Ser174Thr)
|
rs2145057459
|
|
NM_030662.4(MAP2K2):c.523A>G (p.Ile175Val)
|
rs373325880
|
|
NM_030662.4(MAP2K2):c.526G>A (p.Ala176Thr)
|
rs767381558
|
|
NM_030662.4(MAP2K2):c.528+19_528+20inv
|
|
|
NM_030662.4(MAP2K2):c.528+6T>C
|
rs2145057390
|
|
NM_030662.4(MAP2K2):c.528G>C (p.Ala176=)
|
|
|
NM_030662.4(MAP2K2):c.529-2A>C
|
rs2145055278
|
|
NM_030662.4(MAP2K2):c.529-7C>G
|
|
|
NM_030662.4(MAP2K2):c.532C>G (p.Leu178Val)
|
|
|
NM_030662.4(MAP2K2):c.536_537delinsTT (p.Arg179Leu)
|
|
|
NM_030662.4(MAP2K2):c.538G>T (p.Gly180Cys)
|
rs1336312423
|
|
NM_030662.4(MAP2K2):c.539G>A (p.Gly180Asp)
|
|
|
NM_030662.4(MAP2K2):c.542T>C (p.Leu181Ser)
|
|
|
NM_030662.4(MAP2K2):c.545C>T (p.Ala182Val)
|
|
|
NM_030662.4(MAP2K2):c.547T>C (p.Tyr183His)
|
|
|
NM_030662.4(MAP2K2):c.548A>G (p.Tyr183Cys)
|
|
|
NM_030662.4(MAP2K2):c.551T>C (p.Leu184Pro)
|
|
|
NM_030662.4(MAP2K2):c.558G>T (p.Glu186Asp)
|
rs2145055150
|
|
NM_030662.4(MAP2K2):c.55G>T (p.Ala19Ser)
|
|
|
NM_030662.4(MAP2K2):c.565C>G (p.Gln189Glu)
|
|
|
NM_030662.4(MAP2K2):c.567dup (p.Ile190fs)
|
|
|
NM_030662.4(MAP2K2):c.572T>C (p.Met191Thr)
|
|
|
NM_030662.4(MAP2K2):c.577C>T (p.Arg193Ter)
|
rs2041005560
|
|
NM_030662.4(MAP2K2):c.578G>A (p.Arg193Gln)
|
rs530342723
|
|
NM_030662.4(MAP2K2):c.578_580+9del
|
|
|
NM_030662.4(MAP2K2):c.580+5G>C
|
|
|
NM_030662.4(MAP2K2):c.581-2A>G
|
|
|
NM_030662.4(MAP2K2):c.58G>A (p.Glu20Lys)
|
|
|
NM_030662.4(MAP2K2):c.594C>T (p.Ser198=)
|
|
|
NM_030662.4(MAP2K2):c.602T>C (p.Leu201Pro)
|
|
|
NM_030662.4(MAP2K2):c.604G>T (p.Val202Leu)
|
rs769471250
|
|
NM_030662.4(MAP2K2):c.608dup (p.Asn203fs)
|
rs2145054379
|
|
NM_030662.4(MAP2K2):c.61G>C (p.Gly21Arg)
|
|
|
NM_030662.4(MAP2K2):c.626A>G (p.Lys209Arg)
|
|
|
NM_030662.4(MAP2K2):c.627G>A (p.Lys209=)
|
rs1555696933
|
|
NM_030662.4(MAP2K2):c.627G>C (p.Lys209Asn)
|
rs1555696933
|
|
NM_030662.4(MAP2K2):c.639del (p.Phe213fs)
|
rs2145054190
|
|
NM_030662.4(MAP2K2):c.640G>A (p.Gly214Arg)
|
|
|
NM_030662.4(MAP2K2):c.643G>T (p.Val215Leu)
|
|
|
NM_030662.4(MAP2K2):c.650G>C (p.Gly217Ala)
|
|
|
NM_030662.4(MAP2K2):c.653A>T (p.Gln218Leu)
|
|
|
NM_030662.4(MAP2K2):c.655C>G (p.Leu219Val)
|
|
|
NM_030662.4(MAP2K2):c.659_660delinsCA (p.Ile220Thr)
|
|
|
NM_030662.4(MAP2K2):c.674A>T (p.Asn225Ile)
|
|
|
NM_030662.4(MAP2K2):c.682G>C (p.Val228Leu)
|
rs999810842
|
|
NM_030662.4(MAP2K2):c.685G>A (p.Gly229Ser)
|
|
|
NM_030662.4(MAP2K2):c.687C>T (p.Gly229=)
|
|
|
NM_030662.4(MAP2K2):c.691C>T (p.Arg231Cys)
|
rs375843855
|
|
NM_030662.4(MAP2K2):c.692G>T (p.Arg231Leu)
|
rs730880511
|
|
NM_030662.4(MAP2K2):c.694T>A (p.Ser232Thr)
|
|
|
NM_030662.4(MAP2K2):c.703G>T (p.Ala235Ser)
|
rs1166526430
|
|
NM_030662.4(MAP2K2):c.705+2T>C
|
rs2145053647
|
|
NM_030662.4(MAP2K2):c.706-1_706delinsTT
|
rs1599287155
|
|
NM_030662.4(MAP2K2):c.712C>T (p.Arg238Trp)
|
|
|
NM_030662.4(MAP2K2):c.713G>A (p.Arg238Gln)
|
|
|
NM_030662.4(MAP2K2):c.71del (p.Pro24fs)
|
rs730880525
|
|
NM_030662.4(MAP2K2):c.727C>G (p.His243Asp)
|
|
|
NM_030662.4(MAP2K2):c.739C>T (p.Gln247Ter)
|
|
|
NM_030662.4(MAP2K2):c.73A>G (p.Thr25Ala)
|
|
|
NM_030662.4(MAP2K2):c.740A>C (p.Gln247Pro)
|
rs1226120513
|
|
NM_030662.4(MAP2K2):c.745G>T (p.Asp249Tyr)
|
|
|
NM_030662.4(MAP2K2):c.758T>C (p.Met253Thr)
|
|
|
NM_030662.4(MAP2K2):c.760_761del (p.Gly254fs)
|
|
|
NM_030662.4(MAP2K2):c.767C>G (p.Ser256Cys)
|
|
|
NM_030662.4(MAP2K2):c.775G>C (p.Glu259Gln)
|
rs1038040308
|
|
NM_030662.4(MAP2K2):c.791G>A (p.Arg264Lys)
|
|
|
NM_030662.4(MAP2K2):c.794A>T (p.Tyr265Phe)
|
rs1377552828
|
|
NM_030662.4(MAP2K2):c.794_824del (p.Tyr265fs)
|
|
|
NM_030662.4(MAP2K2):c.79G>A (p.Glu27Lys)
|
|
|
NM_030662.4(MAP2K2):c.806C>A (p.Pro269Gln)
|
|
|
NM_030662.4(MAP2K2):c.806C>G (p.Pro269Arg)
|
rs368064728
|
|
NM_030662.4(MAP2K2):c.806C>T (p.Pro269Leu)
|
rs368064728
|
|
NM_030662.4(MAP2K2):c.834C>G (p.Ile278Met)
|
rs766540227
|
|
NM_030662.4(MAP2K2):c.836T>C (p.Phe279Ser)
|
rs2145049960
|
|
NM_030662.4(MAP2K2):c.83G>A (p.Gly28Asp)
|
|
|
NM_030662.4(MAP2K2):c.83_84delinsAA (p.Gly28Glu)
|
rs730880520
|
|
NM_030662.4(MAP2K2):c.842G>C (p.Arg281Pro)
|
rs1332074575
|
|
NM_030662.4(MAP2K2):c.847G>A (p.Val283Met)
|
rs185999703
|
|
NM_030662.4(MAP2K2):c.854A>T (p.Asp285Val)
|
|
|
NM_030662.4(MAP2K2):c.85G>T (p.Ala29Ser)
|
rs770134564
|
|
NM_030662.4(MAP2K2):c.860AAG[1] (p.Glu288del)
|
rs763469132
|
|
NM_030662.4(MAP2K2):c.865G>A (p.Gly289Arg)
|
rs1555696725
|
|
NM_030662.4(MAP2K2):c.871C>G (p.Pro291Ala)
|
|
|
NM_030662.4(MAP2K2):c.872C>G (p.Pro291Arg)
|
|
|
NM_030662.4(MAP2K2):c.872C>T (p.Pro291Leu)
|
rs752436529
|
|
NM_030662.4(MAP2K2):c.874C>T (p.His292Tyr)
|
|
|
NM_030662.4(MAP2K2):c.886C>T (p.Pro296Ser)
|
|
|
NM_030662.4(MAP2K2):c.899C>A (p.Pro300His)
|
|
|
NM_030662.4(MAP2K2):c.901C>G (p.Pro301Ala)
|
|
|
NM_030662.4(MAP2K2):c.903del (p.Arg303fs)
|
|
|
NM_030662.4(MAP2K2):c.903dup (p.Gly302fs)
|
|
|
NM_030662.4(MAP2K2):c.904G>A (p.Gly302Arg)
|
|
|
NM_030662.4(MAP2K2):c.908G>A (p.Arg303His)
|
rs1251433138
|
|
NM_030662.4(MAP2K2):c.917G>T (p.Ser306Ile)
|
|
|
NM_030662.4(MAP2K2):c.924C>G (p.His308Gln)
|
|
|
NM_030662.4(MAP2K2):c.93-15dup
|
rs751442889
|
|
NM_030662.4(MAP2K2):c.940C>A (p.Pro314Thr)
|
rs775940718
|
|
NM_030662.4(MAP2K2):c.946A>G (p.Met316Val)
|
|
|
NM_030662.4(MAP2K2):c.956T>C (p.Phe319Ser)
|
|
|
NM_030662.4(MAP2K2):c.969C>G (p.Asp323Glu)
|
rs768656734
|
|
NM_030662.4(MAP2K2):c.973_974del (p.Ile325fs)
|
rs770978109
|
|
NM_030662.4(MAP2K2):c.976G>T (p.Val326Leu)
|
|
|
NM_030662.4(MAP2K2):c.97A>C (p.Asn33His)
|
|
|
NM_030662.4(MAP2K2):c.986C>T (p.Pro329Leu)
|
rs2040904724
|
|
NM_032322.4(RNF135):c.1015del (p.Val339fs)
|
rs724159978
|
|
NM_032322.4(RNF135):c.742del (p.Leu248fs)
|
rs724159977
|
|
NM_033360.4(KRAS):c.*101_*106del
|
rs1339924833
|
|
NM_033360.4(KRAS):c.*180A>G
|
rs886049198
|
|
NM_033360.4(KRAS):c.*1893A>G
|
rs886049192
|
|
NM_033360.4(KRAS):c.*1967del
|
rs886049191
|
|
NM_033360.4(KRAS):c.*3092_*3095del
|
rs886049184
|
|
NM_033360.4(KRAS):c.*3269C>T
|
rs886049183
|
|
NM_033360.4(KRAS):c.*3323T>C
|
rs886049182
|
|
NM_033360.4(KRAS):c.*3803_*3804dup
|
rs142323886
|
|
NM_033360.4(KRAS):c.*3875_*3878del
|
rs886049180
|
|
NM_033360.4(KRAS):c.*4187del
|
rs34719539
|
|
NM_033360.4(KRAS):c.*4604G>A
|
rs577486152
|
|
NM_033360.4(KRAS):c.*491C>G
|
rs886049196
|
|
NM_033360.4(KRAS):c.*659del
|
rs756307694
|
|
NM_033360.4(KRAS):c.*671C>T
|
rs566222739
|
|
NM_033360.4(KRAS):c.-128C>G
|
rs886049199
|
|
NM_033360.4(KRAS):c.148A>G (p.Thr50Ala)
|
rs730880470
|
|
NM_033360.4(KRAS):c.154C>T (p.Leu52Phe)
|
rs1555194041
|
|
NM_033360.4(KRAS):c.194G>T (p.Ser65Ile)
|
rs1555194026
|
|
NM_152594.3(SPRED1):c.*1095A>G
|
rs1888519746
|
|
NM_152594.3(SPRED1):c.*1400G>A
|
rs886051109
|
|
NM_152594.3(SPRED1):c.*1798A>C
|
rs886051111
|
|
NM_152594.3(SPRED1):c.*1833A>C
|
rs1225083790
|
|
NM_152594.3(SPRED1):c.*1967C>T
|
rs977825563
|
|
NM_152594.3(SPRED1):c.*2323T>C
|
rs1397459578
|
|
NM_152594.3(SPRED1):c.*2414del
|
rs532033889
|
|
NM_152594.3(SPRED1):c.*2420T>C
|
rs184024152
|
|
NM_152594.3(SPRED1):c.*2422A>G
|
rs1888552362
|
|
NM_152594.3(SPRED1):c.*2506_*2513del
|
rs770258605
|
|
NM_152594.3(SPRED1):c.*2539A>T
|
rs970641083
|
|
NM_152594.3(SPRED1):c.*2843A>C
|
rs886051115
|
|
NM_152594.3(SPRED1):c.*3395G>A
|
rs140749542
|
|
NM_152594.3(SPRED1):c.*3536C>G
|
rs889076008
|
|
NM_152594.3(SPRED1):c.*3647T>G
|
rs186366365
|
|
NM_152594.3(SPRED1):c.*3701A>G
|
rs574179000
|
|
NM_152594.3(SPRED1):c.*3705A>G
|
rs888994607
|
|
NM_152594.3(SPRED1):c.*383G>A
|
rs1888501738
|
|
NM_152594.3(SPRED1):c.*4136ATT[1]
|
rs369376164
|
|
NM_152594.3(SPRED1):c.*4781C>A
|
rs886051121
|
|
NM_152594.3(SPRED1):c.*4948AT[1]
|
rs886051122
|
|
NM_152594.3(SPRED1):c.*4987A>C
|
rs886051123
|
|
NM_152594.3(SPRED1):c.*5232G>A
|
rs886051124
|
|
NM_152594.3(SPRED1):c.*5263C>A
|
rs78521927
|
|
NM_152594.3(SPRED1):c.*5346A>C
|
rs886051125
|
|
NM_152594.3(SPRED1):c.*5440T>C
|
rs917966244
|
|
NM_152594.3(SPRED1):c.*5449A>G
|
rs1888638409
|
|
NM_152594.3(SPRED1):c.*578AT[11]
|
rs147547509
|
|
NM_152594.3(SPRED1):c.*578AT[12]
|
rs147547509
|
|
NM_152594.3(SPRED1):c.*578AT[13]
|
rs147547509
|
|
NM_152594.3(SPRED1):c.*578AT[8]
|
rs147547509
|
|
NM_152594.3(SPRED1):c.*632C>T
|
rs1888507927
|
|
NM_152594.3(SPRED1):c.-114G>A
|
rs1489810093
|
|
NM_152594.3(SPRED1):c.-152C>A
|
rs886051102
|
|
NM_152594.3(SPRED1):c.-175G>T
|
rs1312214893
|
|
NM_152594.3(SPRED1):c.-294C>T
|
rs886051100
|
|
NM_152594.3(SPRED1):c.-87C>T
|
rs886051103
|
|
NM_152594.3(SPRED1):c.101T>C (p.Leu34Pro)
|
|
|
NM_152594.3(SPRED1):c.1025T>A (p.Phe342Tyr)
|
rs1888483954
|
|
NM_152594.3(SPRED1):c.1027A>G (p.Asn343Asp)
|
|
|
NM_152594.3(SPRED1):c.1044_1045delinsCC (p.Val348_Arg349=)
|
|
|
NM_152594.3(SPRED1):c.1044_1045delinsCT (p.Arg349Trp)
|
|
|
NM_152594.3(SPRED1):c.104G>A (p.Gly35Glu)
|
|
|
NM_152594.3(SPRED1):c.1067C>A (p.Pro356Gln)
|
|
|
NM_152594.3(SPRED1):c.1076T>A (p.Ile359Asn)
|
rs763738243
|
|
NM_152594.3(SPRED1):c.1078A>G (p.Lys360Glu)
|
|
|
NM_152594.3(SPRED1):c.1087A>G (p.Ile363Val)
|
|
|
NM_152594.3(SPRED1):c.1089A>G (p.Ile363Met)
|
|
|
NM_152594.3(SPRED1):c.108G>T (p.Gly36=)
|
|
|
NM_152594.3(SPRED1):c.1096G>A (p.Val366Ile)
|
|
|
NM_152594.3(SPRED1):c.1098T>G (p.Val366=)
|
rs1888486382
|
|
NM_152594.3(SPRED1):c.1103G>C (p.Cys368Ser)
|
rs2141016537
|
|
NM_152594.3(SPRED1):c.1109T>C (p.Leu370Pro)
|
rs2141016541
|
|
NM_152594.3(SPRED1):c.1119G>C (p.Glu373Asp)
|
|
|
NM_152594.3(SPRED1):c.1125G>A (p.Met375Ile)
|
|
|
NM_152594.3(SPRED1):c.1147T>C (p.Ser383Pro)
|
|
|
NM_152594.3(SPRED1):c.115C>G (p.Leu39Val)
|
rs1555389691
|
|
NM_152594.3(SPRED1):c.1163C>T (p.Ser388Phe)
|
rs1888487548
|
|
NM_152594.3(SPRED1):c.1172G>C (p.Cys391Ser)
|
|
|
NM_152594.3(SPRED1):c.1175C>T (p.Ser392Leu)
|
rs1345810751
|
|
NM_152594.3(SPRED1):c.1189G>A (p.Asp397Asn)
|
rs1888488545
|
|
NM_152594.3(SPRED1):c.118AGC[1] (p.Ser41del)
|
rs1895108139
|
|
NM_152594.3(SPRED1):c.1190A>G (p.Asp397Gly)
|
|
|
NM_152594.3(SPRED1):c.1199T>A (p.Phe400Tyr)
|
|
|
NM_152594.3(SPRED1):c.119G>C (p.Ser40Thr)
|
|
|
NM_152594.3(SPRED1):c.1208G>A (p.Arg403Gln)
|
rs772476060
|
|
NM_152594.3(SPRED1):c.1225G>A (p.Ala409Thr)
|
|
|
NM_152594.3(SPRED1):c.1225_1226delinsTT (p.Ala409Phe)
|
|
|
NM_152594.3(SPRED1):c.1232C>T (p.Ser411Phe)
|
|
|
NM_152594.3(SPRED1):c.1246T>C (p.Cys416Arg)
|
rs1888490204
|
|
NM_152594.3(SPRED1):c.1246T>G (p.Cys416Gly)
|
|
|
NM_152594.3(SPRED1):c.1271_1272del (p.Arg424fs)
|
|
|
NM_152594.3(SPRED1):c.1275G>A (p.Met425Ile)
|
|
|
NM_152594.3(SPRED1):c.1280A>G (p.His427Arg)
|
rs1888490898
|
|
NM_152594.3(SPRED1):c.1300G>T (p.Gly434Cys)
|
|
|
NM_152594.3(SPRED1):c.1307G>C (p.Cys436Ser)
|
|
|
NM_152594.3(SPRED1):c.1320_1321del (p.His440fs)
|
rs759838497
|
|
NM_152594.3(SPRED1):c.1327G>C (p.Ala443Pro)
|
|
|
NM_152594.3(SPRED1):c.135C>G (p.Phe45Leu)
|
rs1595733562
|
|
NM_152594.3(SPRED1):c.137A>G (p.Lys46Arg)
|
|
|
NM_152594.3(SPRED1):c.154G>A (p.Glu52Lys)
|
rs2140978504
|
|
NM_152594.3(SPRED1):c.156G>C (p.Glu52Asp)
|
|
|
NM_152594.3(SPRED1):c.160G>T (p.Gly54Cys)
|
|
|
NM_152594.3(SPRED1):c.161G>C (p.Gly54Ala)
|
|
|
NM_152594.3(SPRED1):c.161G>T (p.Gly54Val)
|
rs1895110134
|
|
NM_152594.3(SPRED1):c.164G>A (p.Cys55Tyr)
|
|
|
NM_152594.3(SPRED1):c.178A>G (p.Ile60Val)
|
rs761830220
|
|
NM_152594.3(SPRED1):c.17C>G (p.Ala6Gly)
|
rs1490356893
|
|
NM_152594.3(SPRED1):c.182G>T (p.Arg61Leu)
|
rs750686148
|
|
NM_152594.3(SPRED1):c.189G>T (p.Glu63Asp)
|
rs2140978555
|
|
NM_152594.3(SPRED1):c.197G>C (p.Arg66Thr)
|
rs1895112263
|
|
NM_152594.3(SPRED1):c.207G>A (p.Met69Ile)
|
|
|
NM_152594.3(SPRED1):c.208-12G>A
|
|
|
NM_152594.3(SPRED1):c.20C>T (p.Thr7Ile)
|
|
|
NM_152594.3(SPRED1):c.221G>T (p.Cys74Phe)
|
rs1412213561
|
|
NM_152594.3(SPRED1):c.232A>G (p.Lys78Glu)
|
rs2140994773
|
|
NM_152594.3(SPRED1):c.235G>T (p.Asp79Tyr)
|
|
|
NM_152594.3(SPRED1):c.241A>G (p.Ile81Val)
|
|
|
NM_152594.3(SPRED1):c.250A>G (p.Lys84Glu)
|
rs2140994791
|
|
NM_152594.3(SPRED1):c.25G>A (p.Asp9Asn)
|
|
|
NM_152594.3(SPRED1):c.270C>G (p.His90Gln)
|
rs773943895
|
|
NM_152594.3(SPRED1):c.274T>C (p.Trp92Arg)
|
rs1566867214
|
|
NM_152594.3(SPRED1):c.287A>C (p.Asp96Ala)
|
|
|
NM_152594.3(SPRED1):c.287A>G (p.Asp96Gly)
|
rs1555391039
|
|
NM_152594.3(SPRED1):c.28A>G (p.Asn10Asp)
|
|
|
NM_152594.3(SPRED1):c.299G>A (p.Gly100Asp)
|
rs1555391048
|
|
NM_152594.3(SPRED1):c.299G>T (p.Gly100Val)
|
rs1555391048
|
|
NM_152594.3(SPRED1):c.29A>G (p.Asn10Ser)
|
rs1894018444
|
|
NM_152594.3(SPRED1):c.302T>C (p.Leu101Pro)
|
rs1595746820
|
|
NM_152594.3(SPRED1):c.302T>G (p.Leu101Arg)
|
rs1595746820
|
|
NM_152594.3(SPRED1):c.314G>T (p.Ser105Ile)
|
rs1895620929
|
|
NM_152594.3(SPRED1):c.315T>G (p.Ser105Arg)
|
rs1566867263
|
|
NM_152594.3(SPRED1):c.317C>T (p.Pro106Leu)
|
rs2140994900
|
|
NM_152594.3(SPRED1):c.319G>A (p.Ala107Thr)
|
|
|
NM_152594.3(SPRED1):c.31G>A (p.Asp11Asn)
|
rs1445226319
|
|
NM_152594.3(SPRED1):c.32+3A>T
|
rs1894018882
|
|
NM_152594.3(SPRED1):c.350G>A (p.Arg117Gln)
|
|
|
NM_152594.3(SPRED1):c.353G>C (p.Arg118Thr)
|
rs373381933
|
|
NM_152594.3(SPRED1):c.355G>C (p.Ala119Pro)
|
rs2140994936
|
|
NM_152594.3(SPRED1):c.376+3A>G
|
|
|
NM_152594.3(SPRED1):c.376+4G>A
|
|
|
NM_152594.3(SPRED1):c.376+4G>C
|
|
|
NM_152594.3(SPRED1):c.376G>C (p.Gly126Arg)
|
rs2140994953
|
|
NM_152594.3(SPRED1):c.382C>G (p.Pro128Ala)
|
rs1895677013
|
|
NM_152594.3(SPRED1):c.386A>T (p.Glu129Val)
|
|
|
NM_152594.3(SPRED1):c.395A>G (p.Asn132Ser)
|
rs1595748117
|
|
NM_152594.3(SPRED1):c.403G>C (p.Glu135Gln)
|
rs1595748136
|
|
NM_152594.3(SPRED1):c.410C>T (p.Ala137Val)
|
rs1355725873
|
|
NM_152594.3(SPRED1):c.421C>A (p.Gln141Lys)
|
rs1060502505
|
|
NM_152594.3(SPRED1):c.423+5G>A
|
rs1895679388
|
|
NM_152594.3(SPRED1):c.423+5_423+8del
|
rs1895679212
|
|
NM_152594.3(SPRED1):c.424-4A>G
|
rs1057518328
|
|
NM_152594.3(SPRED1):c.424G>T (p.Ala142Ser)
|
|
|
NM_152594.3(SPRED1):c.427A>G (p.Asn143Asp)
|
|
|
NM_152594.3(SPRED1):c.431A>G (p.Glu144Gly)
|
rs1895992409
|
|
NM_152594.3(SPRED1):c.440C>T (p.Ser147Phe)
|
|
|
NM_152594.3(SPRED1):c.445A>G (p.Ser149Gly)
|
rs2141007736
|
|
NM_152594.3(SPRED1):c.449C>A (p.Ser150Tyr)
|
|
|
NM_152594.3(SPRED1):c.449C>T (p.Ser150Phe)
|
rs1555392025
|
|
NM_152594.3(SPRED1):c.451C>G (p.Leu151Val)
|
rs750421037
|
|
NM_152594.3(SPRED1):c.455T>C (p.Val152Ala)
|
rs1895993159
|
|
NM_152594.3(SPRED1):c.460G>T (p.Asp154Tyr)
|
rs1414327113
|
|
NM_152594.3(SPRED1):c.462_464dup (p.His155dup)
|
rs1895993278
|
|
NM_152594.3(SPRED1):c.46C>G (p.Arg16Gly)
|
|
|
NM_152594.3(SPRED1):c.47G>A (p.Arg16Gln)
|
|
|
NM_152594.3(SPRED1):c.47G>T (p.Arg16Leu)
|
|
|
NM_152594.3(SPRED1):c.480G>C (p.Glu160Asp)
|
|
|
NM_152594.3(SPRED1):c.487G>T (p.Val163Phe)
|
rs1895993694
|
|
NM_152594.3(SPRED1):c.493A>G (p.Ser165Gly)
|
rs1456920197
|
|
NM_152594.3(SPRED1):c.498G>C (p.Glu166Asp)
|
|
|
NM_152594.3(SPRED1):c.49G>A (p.Val17Met)
|
rs1895106351
|
|
NM_152594.3(SPRED1):c.508A>G (p.Ser170Gly)
|
|
|
NM_152594.3(SPRED1):c.517A>G (p.Ile173Val)
|
rs1060502504
|
|
NM_152594.3(SPRED1):c.519A>G (p.Ile173Met)
|
|
|
NM_152594.3(SPRED1):c.521G>T (p.Arg174Ile)
|
rs2141007899
|
|
NM_152594.3(SPRED1):c.526_528del (p.Ser176del)
|
rs763365429
|
|
NM_152594.3(SPRED1):c.527C>T (p.Ser176Phe)
|
rs1895995078
|
|
NM_152594.3(SPRED1):c.535G>A (p.Glu179Lys)
|
|
|
NM_152594.3(SPRED1):c.538G>T (p.Asp180Tyr)
|
rs1375474473
|
|
NM_152594.3(SPRED1):c.53G>T (p.Arg18Leu)
|
|
|
NM_152594.3(SPRED1):c.546T>A (p.Asn182Lys)
|
|
|
NM_152594.3(SPRED1):c.547G>A (p.Ala183Thr)
|
|
|
NM_152594.3(SPRED1):c.548C>A (p.Ala183Asp)
|
|
|
NM_152594.3(SPRED1):c.548C>T (p.Ala183Val)
|
|
|
NM_152594.3(SPRED1):c.553A>G (p.Arg185Gly)
|
|
|
NM_152594.3(SPRED1):c.556G>A (p.Val186Ile)
|
|
|
NM_152594.3(SPRED1):c.563T>C (p.Met188Thr)
|
|
|
NM_152594.3(SPRED1):c.564_565delinsAA (p.Met188_Gln189delinsIleLys)
|
|
|
NM_152594.3(SPRED1):c.565C>A (p.Gln189Lys)
|
rs200142785
|
|
NM_152594.3(SPRED1):c.567A>T (p.Gln189His)
|
|
|
NM_152594.3(SPRED1):c.56C>G (p.Ala19Gly)
|
rs968982670
|
|
NM_152594.3(SPRED1):c.574_582+14dup
|
|
|
NM_152594.3(SPRED1):c.582+4A>C
|
|
|
NM_152594.3(SPRED1):c.584T>A (p.Ile195Lys)
|
|
|
NM_152594.3(SPRED1):c.602G>T (p.Gly201Val)
|
|
|
NM_152594.3(SPRED1):c.605T>C (p.Leu202Ser)
|
rs1555392598
|
|
NM_152594.3(SPRED1):c.607G>A (p.Asp203Asn)
|
|
|
NM_152594.3(SPRED1):c.611T>C (p.Ile204Thr)
|
|
|
NM_152594.3(SPRED1):c.614A>G (p.Gln205Arg)
|
rs779879921
|
|
NM_152594.3(SPRED1):c.620G>C (p.Arg207Thr)
|
rs2141014869
|
|
NM_152594.3(SPRED1):c.630A>T (p.Glu210Asp)
|
rs2141014874
|
|
NM_152594.3(SPRED1):c.649T>G (p.Ser217Ala)
|
|
|
NM_152594.3(SPRED1):c.652A>G (p.Lys218Glu)
|
|
|
NM_152594.3(SPRED1):c.659G>A (p.Cys220Tyr)
|
rs1896209096
|
|
NM_152594.3(SPRED1):c.665G>A (p.Ser222Asn)
|
|
|
NM_152594.3(SPRED1):c.666C>A (p.Ser222Arg)
|
rs1896209442
|
|
NM_152594.3(SPRED1):c.668T>A (p.Leu223Gln)
|
|
|
NM_152594.3(SPRED1):c.677A>C (p.Gln226Pro)
|
|
|
NM_152594.3(SPRED1):c.684+5G>A
|
rs985085386
|
|
NM_152594.3(SPRED1):c.685-3_685-2insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTATCTGTTTCTTTTTT
|
|
|
NM_152594.3(SPRED1):c.685G>A (p.Val229Ile)
|
|
|
NM_152594.3(SPRED1):c.685G>T (p.Val229Phe)
|
rs201837340
|
|
NM_152594.3(SPRED1):c.689C>G (p.Pro230Arg)
|
rs2141016004
|
|
NM_152594.3(SPRED1):c.706C>T (p.His236Tyr)
|
|
|
NM_152594.3(SPRED1):c.734T>C (p.Ile245Thr)
|
|
|
NM_152594.3(SPRED1):c.747C>G (p.Asn249Lys)
|
rs1888472576
|
|
NM_152594.3(SPRED1):c.74A>G (p.Asp25Gly)
|
rs1057524159
|
|
NM_152594.3(SPRED1):c.758T>C (p.Ile253Thr)
|
|
|
NM_152594.3(SPRED1):c.758T>G (p.Ile253Ser)
|
|
|
NM_152594.3(SPRED1):c.766C>A (p.Arg256Ser)
|
rs1331443136
|
|
NM_152594.3(SPRED1):c.766C>T (p.Arg256Cys)
|
|
|
NM_152594.3(SPRED1):c.770G>A (p.Arg257His)
|
rs750832911
|
|
NM_152594.3(SPRED1):c.773A>G (p.Tyr258Cys)
|
rs2141016090
|
|
NM_152594.3(SPRED1):c.782A>G (p.Tyr261Cys)
|
|
|
NM_152594.3(SPRED1):c.796A>T (p.Met266Leu)
|
rs1340143366
|
|
NM_152594.3(SPRED1):c.798G>A (p.Met266Ile)
|
|
|
NM_152594.3(SPRED1):c.808G>T (p.Asp270Tyr)
|
|
|
NM_152594.3(SPRED1):c.823G>T (p.Asp275Tyr)
|
rs780737673
|
|
NM_152594.3(SPRED1):c.82A>G (p.Ser28Gly)
|
rs2140978422
|
|
NM_152594.3(SPRED1):c.836G>A (p.Ser279Asn)
|
|
|
NM_152594.3(SPRED1):c.854C>T (p.Pro285Leu)
|
|
|
NM_152594.3(SPRED1):c.856G>A (p.Asp286Asn)
|
rs2141016195
|
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NM_152594.3(SPRED1):c.867A>T (p.Lys289Asn)
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NM_152594.3(SPRED1):c.872A>T (p.Asp291Val)
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NM_152594.3(SPRED1):c.877C>G (p.Leu293Val)
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NM_152594.3(SPRED1):c.881A>T (p.Tyr294Phe)
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rs886051105
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NM_152594.3(SPRED1):c.883T>C (p.Ser295Pro)
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NM_152594.3(SPRED1):c.88G>A (p.Gly30Arg)
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NM_152594.3(SPRED1):c.896A>C (p.Glu299Ala)
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NM_152594.3(SPRED1):c.898A>G (p.Thr300Ala)
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rs1888477050
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NM_152594.3(SPRED1):c.89G>T (p.Gly30Val)
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NM_152594.3(SPRED1):c.902A>C (p.Lys301Thr)
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NM_152594.3(SPRED1):c.907A>C (p.Ser303Arg)
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rs2141016279
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NM_152594.3(SPRED1):c.908G>A (p.Ser303Asn)
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NM_152594.3(SPRED1):c.916A>G (p.Lys306Glu)
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rs1300035418
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NM_152594.3(SPRED1):c.917A>G (p.Lys306Arg)
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rs1888477642
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NM_152594.3(SPRED1):c.922T>A (p.Ser308Thr)
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rs765841849
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NM_152594.3(SPRED1):c.931T>C (p.Phe311Leu)
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rs375700452
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NM_152594.3(SPRED1):c.943C>T (p.Pro315Ser)
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NM_152594.3(SPRED1):c.958A>G (p.Ile320Val)
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NM_152594.3(SPRED1):c.962A>C (p.Lys321Thr)
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NM_152594.3(SPRED1):c.962A>G (p.Lys321Arg)
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NM_152594.3(SPRED1):c.963G>C (p.Lys321Asn)
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NM_152594.3(SPRED1):c.967T>G (p.Ser323Ala)
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NM_152594.3(SPRED1):c.973C>G (p.Arg325Gly)
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rs1057518683
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NM_152594.3(SPRED1):c.974G>A (p.Arg325Gln)
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rs1238094530
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NM_152594.3(SPRED1):c.977G>C (p.Arg326Thr)
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NM_152594.3(SPRED1):c.985G>T (p.Asp329Tyr)
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rs756634323
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NM_152594.3(SPRED1):c.989G>A (p.Gly330Asp)
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rs1461391044
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NM_152594.3(SPRED1):c.993A>G (p.Glu331=)
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NM_152594.3(SPRED1):c.997T>G (p.Ser333Ala)
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NM_176795.5(HRAS):c.463_468dup (p.Gly155_Ser156dup)
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NM_176795.5(HRAS):c.500dup (p.Pro169fs)
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rs35613389
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Single allele
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