NM_000208.4(INSR):c.5C>G (p.Ala2Gly)
|
rs7508518
|
0.99996
|
NM_000208.4(INSR):c.100+243G>A
|
rs10427109
|
0.96337
|
NM_000208.4(INSR):c.2030-73T>G
|
rs72996158
|
0.96270
|
NM_000208.4(INSR):c.2843-121T>C
|
rs2860173
|
0.93710
|
NM_000208.4(INSR):c.2683-242A>G
|
rs1549616
|
0.92447
|
NM_000208.4(INSR):c.*104A>G
|
rs1051690
|
0.83181
|
NM_000208.4(INSR):c.2267+90G>C
|
rs2252673
|
0.74749
|
NM_000208.4(INSR):c.2030-68T>G
|
rs62124500
|
0.67573
|
NM_000208.4(INSR):c.*2779G>A
|
rs3745551
|
0.67433
|
NM_000208.4(INSR):c.3529+236C>A
|
rs4031066
|
0.66325
|
NM_000208.4(INSR):c.3259-192A>T
|
rs8103497
|
0.65893
|
NM_000208.4(INSR):c.1861+56T>C
|
rs2059807
|
0.63217
|
NM_000208.4(INSR):c.2029+254A>G
|
rs1808531
|
0.62180
|
NM_000208.4(INSR):c.2030-128del
|
rs113402674
|
0.59055
|
NM_000208.4(INSR):c.1483+31T>C
|
rs2860178
|
0.52842
|
NM_000208.4(INSR):c.1611-126T>C
|
rs3815901
|
0.50205
|
NM_000208.4(INSR):c.3529+303G>A
|
rs11085212
|
0.47034
|
NM_000208.4(INSR):c.3529+113del
|
rs34073323
|
0.46704
|
NM_000208.4(INSR):c.3258+308G>A
|
rs2288404
|
0.44561
|
NM_000208.4(INSR):c.653-175_653-174del
|
rs67787836
|
0.41187
|
NM_000208.4(INSR):c.2030-88T>G
|
rs564845387
|
0.39085
|
NM_000208.4(INSR):c.653-114T>C
|
rs891088
|
0.32276
|
NM_000208.4(INSR):c.1483+43G>T
|
rs7252268
|
0.31795
|
NM_000208.4(INSR):c.974+173T>C
|
rs8112748
|
0.30553
|
NM_000208.4(INSR):c.*1494G>A
|
rs3745550
|
0.27864
|
NM_000208.4(INSR):c.2030-206T>C
|
rs112873578
|
0.27667
|
NM_000208.4(INSR):c.3795-85C>T
|
rs11883202
|
0.27514
|
NM_000208.4(INSR):c.1862-20A>G
|
rs2245648
|
0.26534
|
NM_000208.4(INSR):c.1124-311G>A
|
rs45596032
|
0.24749
|
NM_000208.4(INSR):c.1610+264T>C
|
rs1366235
|
0.24054
|
NM_000208.4(INSR):c.1610+28A>C
|
rs2860177
|
0.24043
|
NM_000208.4(INSR):c.3530-306A>G
|
rs4804069
|
0.23324
|
NM_000208.4(INSR):c.*784C>G
|
rs1051651
|
0.22772
|
NM_000208.4(INSR):c.*4474C>T
|
rs1052371
|
0.22677
|
NM_000208.3(INSR):c.*4802C>T
|
rs12150997
|
0.22638
|
NM_000208.4(INSR):c.1861+27C>T
|
rs3815902
|
0.21056
|
NM_000208.4(INSR):c.1610+162G>T
|
rs1366234
|
0.20541
|
NM_000208.4(INSR):c.2683-302A>G
|
rs77017193
|
0.20520
|
NM_000208.4(INSR):c.974+89C>T
|
rs6510959
|
0.20430
|
NM_000208.4(INSR):c.3255C>T (p.His1085=)
|
rs1799817
|
0.20288
|
NM_000208.4(INSR):c.1861+129G>T
|
rs62124510
|
0.16157
|
NM_000208.4(INSR):c.2842+88G>A
|
rs2860175
|
0.16006
|
NM_000208.4(INSR):c.1123+309C>T
|
rs11085213
|
0.15726
|
NM_000208.4(INSR):c.1611-282C>T
|
rs62124511
|
0.15624
|
NM_000208.4(INSR):c.1268+92G>A
|
rs8113777
|
0.14826
|
NM_000208.4(INSR):c.653-153G>A
|
rs17253937
|
0.14270
|
NM_000208.4(INSR):c.653-73G>A
|
rs13306455
|
0.13890
|
NM_000208.4(INSR):c.974+84G>C
|
rs41315074
|
0.13443
|
NM_000208.4(INSR):c.1932A>C (p.Pro644=)
|
rs2245655
|
0.12535
|
NM_000208.4(INSR):c.1862-116A>G
|
rs2352953
|
0.12532
|
NM_000208.4(INSR):c.1862-4A>G
|
rs2245649
|
0.12510
|
NM_000208.4(INSR):c.1918C>T (p.Leu640=)
|
rs2963
|
0.12510
|
NM_000208.4(INSR):c.783C>T (p.Asp261=)
|
rs891087
|
0.11869
|
NM_000208.4(INSR):c.1861+159A>G
|
rs78301545
|
0.11596
|
NM_000208.4(INSR):c.1861+151A>G
|
rs78248456
|
0.10972
|
NM_000208.4(INSR):c.*2854G>T
|
rs1864193
|
0.10584
|
NM_000208.4(INSR):c.*4422G>T
|
rs12642
|
0.10462
|
NM_000208.4(INSR):c.*2010G>A
|
rs55972112
|
0.10448
|
NM_000208.4(INSR):c.2843-99C>A
|
rs13306446
|
0.09596
|
NM_000208.4(INSR):c.3660-64G>A
|
rs13306448
|
0.09135
|
NM_000208.4(INSR):c.2595C>T (p.Asn865=)
|
rs2229431
|
0.08453
|
NM_000208.4(INSR):c.2007C>T (p.Phe669=)
|
rs2962
|
0.08356
|
NM_000208.4(INSR):c.3659+251T>C
|
rs1529448
|
0.08211
|
NM_000208.4(INSR):c.3660-189C>T
|
rs62124489
|
0.07724
|
NM_000208.4(INSR):c.3660-57C>T
|
rs184752862
|
0.07712
|
NM_000208.4(INSR):c.3660-59C>T
|
rs187956009
|
0.07392
|
NM_000208.4(INSR):c.1483+171G>A
|
rs62124512
|
0.07243
|
NM_000208.4(INSR):c.*4195T>C
|
rs1366601
|
0.06149
|
NM_000208.4(INSR):c.*4186T>C
|
rs1366600
|
0.06049
|
NM_000208.4(INSR):c.2542+129G>A
|
rs112122628
|
0.04855
|
NM_000208.4(INSR):c.2682+183C>A
|
rs73498780
|
0.04841
|
NM_000208.4(INSR):c.3033C>T (p.Tyr1011=)
|
rs1799815
|
0.04745
|
NM_000208.4(INSR):c.*3029T>C
|
rs72988602
|
0.04550
|
NM_000208.4(INSR):c.2267+17C>T
|
rs41509747
|
0.04450
|
NM_000208.4(INSR):c.1124-81G>T
|
rs41412545
|
0.04051
|
NM_000208.4(INSR):c.975-279A>G
|
rs145337171
|
0.03929
|
NM_000208.4(INSR):c.2231+20C>A
|
rs6413502
|
0.03725
|
NM_000208.4(INSR):c.2231+34G>A
|
rs3745548
|
0.03596
|
NM_000208.4(INSR):c.1123+21G>A
|
rs13306458
|
0.03006
|
NM_000208.4(INSR):c.1269-99C>T
|
rs34970365
|
0.02911
|
NM_000208.4(INSR):c.1610+23C>T
|
rs9676400
|
0.02818
|
NM_000208.4(INSR):c.1269-231A>G
|
rs61311198
|
0.02722
|
NM_000208.4(INSR):c.*1974_*1975del
|
rs148930499
|
0.02551
|
NM_000208.4(INSR):c.*224C>T
|
rs2860171
|
0.02007
|
NM_000208.4(INSR):c.2643C>T (p.Ile881=)
|
rs2229432
|
0.01903
|
NM_000208.4(INSR):c.2542+3A>G
|
rs13306451
|
0.01900
|
NM_000208.4(INSR):c.2448G>A (p.Thr816=)
|
rs2229434
|
0.01850
|
NM_000208.4(INSR):c.*1432C>T
|
rs111557734
|
0.01814
|
NM_000208.4(INSR):c.653-7del
|
rs766817873
|
0.01724
|
NM_000208.4(INSR):c.*2793C>A
|
rs9282760
|
0.01708
|
NM_000208.4(INSR):c.3795-5C>T
|
rs78312382
|
0.01607
|
NM_000208.3(INSR):c.*4794T>C
|
rs10415841
|
0.01406
|
NM_000208.4(INSR):c.*4218G>C
|
rs10416396
|
0.01362
|
NM_000208.4(INSR):c.101-32C>T
|
rs3745544
|
0.01353
|
NM_000208.4(INSR):c.2370G>A (p.Thr790=)
|
rs16994210
|
0.01346
|
NM_000208.4(INSR):c.653-9del
|
rs754360103
|
0.01255
|
NM_000208.4(INSR):c.*2340A>G
|
rs78987925
|
0.01226
|
NM_000208.4(INSR):c.*4602C>T
|
rs10413914
|
0.01216
|
NM_000208.4(INSR):c.*3857C>T
|
rs114405975
|
0.01204
|
NM_000208.4(INSR):c.*2519G>A
|
rs114982195
|
0.01193
|
NM_000208.4(INSR):c.1989G>A (p.Ala663=)
|
rs36081066
|
0.01045
|
NM_000208.4(INSR):c.1098T>C (p.Ser366=)
|
rs2229435
|
0.00988
|
NM_000208.4(INSR):c.*2318G>A
|
rs80330850
|
0.00953
|
NM_000208.4(INSR):c.909G>A (p.Gln303=)
|
rs9282757
|
0.00950
|
NM_000208.4(INSR):c.*3463A>G
|
rs115358150
|
0.00928
|
NM_000208.4(INSR):c.2718T>C (p.Ala906=)
|
rs2229433
|
0.00891
|
NM_000208.4(INSR):c.3259-31C>T
|
rs148813626
|
0.00848
|
NM_000208.4(INSR):c.262T>C (p.Leu88=)
|
rs61736580
|
0.00797
|
NM_000208.4(INSR):c.*2502A>G
|
rs149795309
|
0.00665
|
NM_000208.4(INSR):c.*1089A>G
|
rs116422284
|
0.00664
|
NM_000208.4(INSR):c.2683-5C>T
|
rs41306363
|
0.00664
|
NM_000208.4(INSR):c.*3786G>C
|
rs115012090
|
0.00642
|
NM_000208.4(INSR):c.3370-15G>A
|
rs41300628
|
0.00616
|
NM_000208.4(INSR):c.*498_*499insTT
|
rs71775166
|
0.00598
|
NM_000208.4(INSR):c.618C>T (p.Val206=)
|
rs56012021
|
0.00580
|
NM_000208.4(INSR):c.1123+13G>T
|
rs72549236
|
0.00526
|
NM_000208.4(INSR):c.3034G>A (p.Val1012Met)
|
rs1799816
|
0.00500
|
NM_000208.4(INSR):c.870C>T (p.His290=)
|
rs74483718
|
0.00416
|
NM_000208.4(INSR):c.*501T>G
|
rs562228680
|
0.00400
|
NM_000208.4(INSR):c.*2820G>A
|
rs139376149
|
0.00394
|
NM_000208.4(INSR):c.*4270G>A
|
rs74433419
|
0.00386
|
NM_000208.4(INSR):c.*1870C>G
|
rs41315072
|
0.00376
|
NM_000208.4(INSR):c.*394del
|
rs140291876
|
0.00350
|
NM_000208.4(INSR):c.2193G>A (p.Thr731=)
|
rs6413501
|
0.00350
|
NM_000208.4(INSR):c.2946-14T>C
|
rs138585749
|
0.00347
|
NM_000208.4(INSR):c.2971C>A (p.Leu991Ile)
|
rs150114699
|
0.00307
|
NM_000208.4(INSR):c.2355G>A (p.Ser785=)
|
rs148137322
|
0.00285
|
NM_000208.4(INSR):c.*3298C>T
|
rs184243377
|
0.00248
|
NM_000208.4(INSR):c.*1171C>T
|
rs188386673
|
0.00225
|
NM_000208.4(INSR):c.*1917G>C
|
rs186013503
|
0.00205
|
NM_000208.4(INSR):c.*4760G>A
|
rs574836227
|
0.00186
|
NM_000208.4(INSR):c.-12G>C
|
rs143135433
|
0.00186
|
NM_000208.4(INSR):c.1080C>T (p.Cys360=)
|
rs56066516
|
0.00183
|
NM_000208.4(INSR):c.*3009del
|
rs140355086
|
0.00182
|
NM_000208.4(INSR):c.2682+9C>G
|
rs41398545
|
0.00145
|
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu)
|
rs146588336
|
0.00145
|
NM_000208.4(INSR):c.*2853T>C
|
rs186288667
|
0.00143
|
NM_000208.4(INSR):c.2736G>A (p.Arg912=)
|
rs147125937
|
0.00134
|
NM_000208.4(INSR):c.*2464C>T
|
rs181555180
|
0.00132
|
NM_000208.4(INSR):c.*356G>T
|
rs1353247571
|
0.00128
|
NM_000208.4(INSR):c.2575C>T (p.His859Tyr)
|
rs149536206
|
0.00123
|
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu)
|
rs143523271
|
0.00116
|
NM_000208.4(INSR):c.687C>T (p.Thr229=)
|
rs150568177
|
0.00111
|
NM_000208.4(INSR):c.*4712T>C
|
rs147343062
|
0.00096
|
NM_000208.4(INSR):c.*3894G>A
|
rs184154294
|
0.00093
|
NM_000208.4(INSR):c.190T>C (p.Leu64=)
|
rs144836032
|
0.00092
|
NM_000208.4(INSR):c.2793G>A (p.Ala931=)
|
rs111502197
|
0.00088
|
NM_000208.4(INSR):c.959C>T (p.Thr320Met)
|
rs138528064
|
0.00087
|
NM_000208.4(INSR):c.2970G>A (p.Pro990=)
|
rs41304772
|
0.00085
|
NM_000208.4(INSR):c.*2255T>G
|
rs547131375
|
0.00071
|
NM_000208.4(INSR):c.2263C>T (p.Pro755Ser)
|
rs148838377
|
0.00064
|
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly)
|
rs147671523
|
0.00058
|
NM_000208.4(INSR):c.2295C>T (p.Gly765=)
|
rs142654992
|
0.00058
|
NM_000208.4(INSR):c.*2149C>T
|
rs886054670
|
0.00052
|
NM_000208.4(INSR):c.*1116G>A
|
rs146905190
|
0.00051
|
NM_000208.3(INSR):c.*4803G>A
|
rs138569451
|
0.00048
|
NM_000208.4(INSR):c.1584G>A (p.Leu528=)
|
rs145334760
|
0.00048
|
NM_000208.4(INSR):c.2573C>T (p.Thr858Met)
|
rs201466857
|
0.00048
|
NM_000208.4(INSR):c.41T>C (p.Leu14Pro)
|
rs745857330
|
0.00047
|
NM_000208.4(INSR):c.2666G>A (p.Arg889Gln)
|
rs187282966
|
0.00046
|
NM_000208.4(INSR):c.*1967G>A
|
rs886054672
|
0.00044
|
NM_000208.4(INSR):c.*499G>T
|
rs1173572474
|
0.00044
|
NM_000208.4(INSR):c.*2136T>A
|
rs886054671
|
0.00043
|
NM_000208.4(INSR):c.*3359G>A
|
rs146249924
|
0.00038
|
NM_000208.4(INSR):c.2293G>A (p.Gly765Ser)
|
rs146698985
|
0.00036
|
NM_000208.4(INSR):c.2388G>C (p.Arg796Ser)
|
rs78433961
|
0.00036
|
NM_000208.4(INSR):c.151G>A (p.Glu51Lys)
|
rs140852238
|
0.00035
|
NM_000208.4(INSR):c.1503A>G (p.Lys501=)
|
rs9676819
|
0.00034
|
NM_000208.4(INSR):c.*1799C>T
|
rs147080388
|
0.00033
|
NM_000208.4(INSR):c.3530-15C>A
|
rs201189144
|
0.00031
|
NM_000208.4(INSR):c.*2565C>T
|
rs117532686
|
0.00029
|
NM_000208.4(INSR):c.224A>G (p.Asp75Gly)
|
rs142910337
|
0.00029
|
NM_000208.4(INSR):c.39G>C (p.Pro13=)
|
rs771984795
|
0.00029
|
NM_000208.4(INSR):c.*1191T>C
|
rs564677377
|
0.00026
|
NM_000208.4(INSR):c.3258+16G>A
|
rs372761756
|
0.00026
|
NM_000208.4(INSR):c.*2456C>T
|
rs145777450
|
0.00025
|
NM_000208.4(INSR):c.*3877T>C
|
rs148660410
|
0.00025
|
NM_000208.4(INSR):c.1179G>A (p.Gly393=)
|
rs140573575
|
0.00025
|
NM_000208.4(INSR):c.888G>A (p.Ser296=)
|
rs2229428
|
0.00024
|
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp)
|
rs76077021
|
0.00021
|
NM_000208.4(INSR):c.2698G>A (p.Val900Ile)
|
rs144029037
|
0.00021
|
NM_000208.4(INSR):c.3193C>G (p.Leu1065Val)
|
rs56395521
|
0.00021
|
NM_000208.4(INSR):c.3615G>A (p.Pro1205=)
|
rs146546375
|
0.00020
|
NM_000208.4(INSR):c.320C>T (p.Thr107Met)
|
rs140762552
|
0.00019
|
NM_000208.4(INSR):c.*1573C>T
|
rs549250341
|
0.00016
|
NM_000208.4(INSR):c.1191C>T (p.Ile397=)
|
rs56135071
|
0.00015
|
NM_000208.4(INSR):c.2976C>T (p.Tyr992=)
|
rs191756282
|
0.00015
|
NM_000208.4(INSR):c.3174G>A (p.Thr1058=)
|
rs141582849
|
0.00015
|
NM_000208.4(INSR):c.*2160G>T
|
rs570523460
|
0.00014
|
NM_000208.4(INSR):c.*613C>T
|
rs779517721
|
0.00014
|
NM_000208.4(INSR):c.*87C>T
|
rs749041393
|
0.00014
|
NM_000208.4(INSR):c.3228G>A (p.Ser1076=)
|
rs768764179
|
0.00014
|
NM_000208.4(INSR):c.690C>T (p.Ala230=)
|
rs373720760
|
0.00014
|
NM_000208.4(INSR):c.*1574G>A
|
rs367868568
|
0.00013
|
NM_000208.4(INSR):c.*4696T>C
|
rs546415055
|
0.00013
|
NM_000208.4(INSR):c.3591G>C (p.Leu1197=)
|
rs776228235
|
0.00012
|
NM_000208.4(INSR):c.*1192G>A
|
rs142596192
|
0.00011
|
NM_000208.4(INSR):c.*1584C>G
|
rs535755401
|
0.00011
|
NM_000208.4(INSR):c.225C>T (p.Asp75=)
|
rs41352749
|
0.00011
|
NM_000208.4(INSR):c.2766C>T (p.Ser922=)
|
rs145713001
|
0.00011
|
NM_000208.4(INSR):c.*4374G>A
|
rs886054660
|
0.00010
|
NM_000208.4(INSR):c.1665T>C (p.Ser555=)
|
rs149795690
|
0.00010
|
NM_000208.4(INSR):c.894G>A (p.Arg298=)
|
rs757999365
|
0.00010
|
NM_000208.4(INSR):c.2081C>T (p.Ser694Phe)
|
rs574155637
|
0.00009
|
NM_000208.4(INSR):c.2117C>A (p.Ala706Asp)
|
rs142391704
|
0.00009
|
NM_000208.4(INSR):c.3102C>T (p.Phe1034=)
|
rs143521418
|
0.00009
|
NM_000208.4(INSR):c.575G>A (p.Gly192Asp)
|
rs143919163
|
0.00009
|
NM_000208.4(INSR):c.*97A>G
|
rs1030133375
|
0.00008
|
NM_000208.4(INSR):c.*999A>G
|
rs372034184
|
0.00008
|
NM_000208.4(INSR):c.2256C>G (p.Ala752=)
|
rs376497490
|
0.00008
|
NM_000208.4(INSR):c.2517C>T (p.Tyr839=)
|
rs769481102
|
0.00008
|
NM_000208.4(INSR):c.2596G>A (p.Val866Ile)
|
rs200110540
|
0.00008
|
NM_000208.4(INSR):c.2598C>T (p.Val866=)
|
rs797045625
|
0.00008
|
NM_000208.4(INSR):c.2754G>A (p.Pro918=)
|
rs148994508
|
0.00008
|
NM_000208.4(INSR):c.2829C>T (p.Tyr943=)
|
rs376766937
|
0.00008
|
NM_000208.4(INSR):c.*2568G>A
|
rs973027799
|
0.00007
|
NM_000208.4(INSR):c.123G>T (p.Arg41=)
|
rs372938158
|
0.00007
|
NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn)
|
rs369102740
|
0.00007
|
NM_000208.4(INSR):c.881A>G (p.Lys294Arg)
|
rs201147780
|
0.00007
|
NM_000208.4(INSR):c.*1137A>G
|
rs192753442
|
0.00006
|
NM_000208.4(INSR):c.*2023A>G
|
rs754015320
|
0.00006
|
NM_000208.4(INSR):c.*2322G>A
|
rs561917859
|
0.00006
|
NM_000208.4(INSR):c.*3019C>A
|
rs1037171690
|
0.00006
|
NM_000208.4(INSR):c.1092C>T (p.Asn364=)
|
rs779479343
|
0.00006
|
NM_000208.4(INSR):c.1203C>T (p.Tyr401=)
|
rs76262811
|
0.00006
|
NM_000208.4(INSR):c.1268+5G>A
|
rs762359047
|
0.00006
|
NM_000208.4(INSR):c.1628C>T (p.Thr543Met)
|
rs767160876
|
0.00006
|
NM_000208.4(INSR):c.221G>A (p.Arg74Gln)
|
rs766295952
|
0.00006
|
NM_000208.4(INSR):c.2280A>G (p.Lys760=)
|
rs373695282
|
0.00006
|
NM_000208.4(INSR):c.2361C>T (p.Ser787=)
|
rs751613599
|
0.00006
|
NM_000208.4(INSR):c.2682+7C>T
|
rs200618148
|
0.00006
|
NM_000208.4(INSR):c.2799C>T (p.Asn933=)
|
rs113446125
|
0.00006
|
NM_000208.4(INSR):c.2853G>A (p.Pro951=)
|
rs200564313
|
0.00006
|
NM_000208.4(INSR):c.3042C>T (p.Asp1014=)
|
rs369686949
|
0.00006
|
NM_000208.4(INSR):c.3370-12T>G
|
rs200201955
|
0.00006
|
NM_000208.4(INSR):c.*12G>A
|
rs375751275
|
0.00005
|
NM_000208.4(INSR):c.1433G>A (p.Arg478His)
|
rs750676016
|
0.00005
|
NM_000208.4(INSR):c.3143G>A (p.Gly1048Asp)
|
rs200921389
|
0.00005
|
NM_000208.4(INSR):c.3809G>A (p.Arg1270His)
|
rs746000108
|
0.00005
|
NM_000208.4(INSR):c.*1001A>G
|
rs766637171
|
0.00004
|
NM_000208.4(INSR):c.*1045C>T
|
rs756351376
|
0.00004
|
NM_000208.4(INSR):c.*241G>A
|
rs369919269
|
0.00004
|
NM_000208.4(INSR):c.*2475A>G
|
rs1401575339
|
0.00004
|
NM_000208.4(INSR):c.-62C>T
|
rs532052290
|
0.00004
|
NM_000208.4(INSR):c.1084G>A (p.Val362Ile)
|
rs72549237
|
0.00004
|
NM_000208.4(INSR):c.1566C>T (p.Pro522=)
|
rs546462100
|
0.00004
|
NM_000208.4(INSR):c.1671G>A (p.Thr557=)
|
rs752643772
|
0.00004
|
NM_000208.4(INSR):c.2376G>A (p.Pro792=)
|
rs529869522
|
0.00004
|
NM_000208.4(INSR):c.3111G>A (p.Val1037=)
|
rs761203697
|
0.00004
|
NM_000208.4(INSR):c.578A>G (p.Lys193Arg)
|
rs1365559678
|
0.00004
|
NM_000208.4(INSR):c.*1591C>T
|
rs545450279
|
0.00003
|
NM_000208.4(INSR):c.*2014C>T
|
rs556567528
|
0.00003
|
NM_000208.4(INSR):c.*3693G>A
|
rs886054662
|
0.00003
|
NM_000208.4(INSR):c.*4379C>T
|
rs886054659
|
0.00003
|
NM_000208.4(INSR):c.*4380G>A
|
rs1016440018
|
0.00003
|
NM_000208.4(INSR):c.1050G>A (p.Ser350=)
|
rs751541632
|
0.00003
|
NM_000208.4(INSR):c.2275C>T (p.Arg759Trp)
|
rs752552480
|
0.00003
|
NM_000208.4(INSR):c.3571C>T (p.Arg1191Trp)
|
rs886054686
|
0.00003
|
NM_000208.4(INSR):c.3805A>T (p.Met1269Leu)
|
rs375197837
|
0.00003
|
NM_000208.4(INSR):c.386A>G (p.Lys129Arg)
|
rs1310336610
|
0.00003
|
NM_000208.4(INSR):c.3876C>T (p.Asp1292=)
|
rs781656016
|
0.00003
|
NM_000208.4(INSR):c.4028G>A (p.Arg1343Gln)
|
rs753624268
|
0.00003
|
NM_000208.4(INSR):c.*280G>A
|
rs886054685
|
0.00002
|
NM_000208.4(INSR):c.1810C>T (p.Arg604Trp)
|
rs777486535
|
0.00002
|
NM_000208.4(INSR):c.2030-3C>T
|
rs766758560
|
0.00002
|
NM_000208.4(INSR):c.2121C>T (p.Gly707=)
|
rs753257847
|
0.00002
|
NM_000208.4(INSR):c.2319C>T (p.Ala773=)
|
rs766008607
|
0.00002
|
NM_000208.4(INSR):c.261C>T (p.Tyr87=)
|
rs145884847
|
0.00002
|
NM_000208.4(INSR):c.2842+4A>T
|
rs369081376
|
0.00002
|
NM_000208.4(INSR):c.2842+6T>A
|
rs767138526
|
0.00002
|
NM_000208.4(INSR):c.2848G>A (p.Val950Ile)
|
rs139944962
|
0.00002
|
NM_000208.4(INSR):c.3158G>A (p.Arg1053His)
|
rs748109926
|
0.00002
|
NM_000208.4(INSR):c.3324C>T (p.His1108=)
|
rs202111071
|
0.00002
|
NM_000208.4(INSR):c.345C>T (p.Phe115=)
|
rs374952799
|
0.00002
|
NM_000208.4(INSR):c.3529+5G>A
|
rs764083259
|
0.00002
|
NM_000208.4(INSR):c.3669C>T (p.Gly1223=)
|
rs750713967
|
0.00002
|
NM_000208.4(INSR):c.3844A>G (p.Thr1282Ala)
|
rs55875349
|
0.00002
|
NM_000208.4(INSR):c.707A>G (p.His236Arg)
|
rs121913145
|
0.00002
|
NM_000208.4(INSR):c.*2405A>T
|
rs886054669
|
0.00001
|
NM_000208.4(INSR):c.*2517A>G
|
rs886054668
|
0.00001
|
NM_000208.4(INSR):c.*442G>T
|
rs1325974020
|
0.00001
|
NM_000208.4(INSR):c.*926_*927insG
|
rs886054676
|
0.00001
|
NM_000208.4(INSR):c.1056G>A (p.Thr352=)
|
rs765176874
|
0.00001
|
NM_000208.4(INSR):c.1147G>A (p.Ala383Thr)
|
rs543791069
|
0.00001
|
NM_000208.4(INSR):c.1151A>G (p.Asn384Ser)
|
rs1419106670
|
0.00001
|
NM_000208.4(INSR):c.1156G>A (p.Gly386Ser)
|
rs764221583
|
0.00001
|
NM_000208.4(INSR):c.1195C>T (p.Arg399Ter)
|
rs121913151
|
0.00001
|
NM_000208.4(INSR):c.1246C>T (p.Arg416Ter)
|
rs778989302
|
0.00001
|
NM_000208.4(INSR):c.1284T>C (p.Tyr428=)
|
rs794727776
|
0.00001
|
NM_000208.4(INSR):c.1459A>G (p.Lys487Glu)
|
rs121913136
|
0.00001
|
NM_000208.4(INSR):c.1466A>G (p.Asn489Ser)
|
rs121913147
|
0.00001
|
NM_000208.4(INSR):c.14G>A (p.Gly5Asp)
|
rs886054690
|
0.00001
|
NM_000208.4(INSR):c.1610+2T>C
|
rs797045624
|
0.00001
|
NM_000208.4(INSR):c.2268-3C>T
|
rs750201666
|
0.00001
|
NM_000208.4(INSR):c.2276G>A (p.Arg759Gln)
|
rs1460294044
|
0.00001
|
NM_000208.4(INSR):c.2325C>T (p.Pro775=)
|
rs746508034
|
0.00001
|
NM_000208.4(INSR):c.2327C>T (p.Thr776Met)
|
rs377048253
|
0.00001
|
NM_000208.4(INSR):c.2380G>A (p.Glu794Lys)
|
rs376600434
|
0.00001
|
NM_000208.4(INSR):c.2498G>A (p.Arg833Gln)
|
rs777565396
|
0.00001
|
NM_000208.4(INSR):c.2543-13C>T
|
rs1187901881
|
0.00001
|
NM_000208.4(INSR):c.2564G>A (p.Gly855Asp)
|
rs201667363
|
0.00001
|
NM_000208.4(INSR):c.2572A>G (p.Thr858Ala)
|
rs182552223
|
0.00001
|
NM_000208.4(INSR):c.2960C>T (p.Pro987Leu)
|
rs866193541
|
0.00001
|
NM_000208.4(INSR):c.3059G>A (p.Arg1020Gln)
|
rs121913148
|
0.00001
|
NM_000208.4(INSR):c.3079C>T (p.Arg1027Ter)
|
rs121913144
|
0.00001
|
NM_000208.4(INSR):c.3202C>T (p.Arg1068Trp)
|
rs762687424
|
0.00001
|
NM_000208.4(INSR):c.3297G>A (p.Thr1099=)
|
rs781555854
|
0.00001
|
NM_000208.4(INSR):c.3321T>C (p.Ala1107=)
|
rs1337155856
|
0.00001
|
NM_000208.4(INSR):c.3383G>A (p.Arg1128His)
|
rs202160383
|
0.00001
|
NM_000208.4(INSR):c.3501C>T (p.Val1167=)
|
rs373794054
|
0.00001
|
NM_000208.4(INSR):c.3572G>A (p.Arg1191Gln)
|
rs121913150
|
0.00001
|
NM_000208.4(INSR):c.3614C>T (p.Pro1205Leu)
|
rs1295645322
|
0.00001
|
NM_000208.4(INSR):c.3808C>T (p.Arg1270Cys)
|
rs371841833
|
0.00001
|
NM_000208.4(INSR):c.3863A>G (p.Asn1288Ser)
|
rs756542405
|
0.00001
|
NM_000208.4(INSR):c.3937G>A (p.Glu1313Lys)
|
rs759636582
|
0.00001
|
NM_000208.4(INSR):c.3999G>A (p.Ser1333=)
|
rs746489788
|
0.00001
|
NM_000208.4(INSR):c.4082A>G (p.Tyr1361Cys)
|
rs13306449
|
0.00001
|
NM_000208.4(INSR):c.4139A>G (p.Asn1380Ser)
|
rs377701938
|
0.00001
|
NM_000208.4(INSR):c.474C>T (p.Ile158=)
|
rs752803584
|
0.00001
|
NM_000208.4(INSR):c.624A>G (p.Arg208=)
|
rs759705666
|
0.00001
|
NM_000208.4(INSR):c.756C>T (p.Cys252=)
|
rs769511771
|
0.00001
|
GRCh37/hg19 19p13.2(chr19:7184327-7184648)x1
|
|
|
INSR, EX17, ALU
|
|
|
NC_000019.9:g.(?_7112275)_(7123001_7125293)dup
|
|
|
NC_000019.9:g.(?_7117067)_(7123020_?)dup
|
|
|
NG_008852.1:g.[135909G>T;8170_32961del24792]
|
|
|
NM_000208.2:c.[1465A>G;3160G>A]
|
|
|
NM_000208.2:c.[2504G>T;2525C>T]
|
|
|
NM_000208.2:c.[766C>T;2997T>G]
|
|
|
NM_000208.3(INSR):c.2683-542_2842+544del
|
|
|
NM_000208.4(INSR):c.*1067G>A
|
rs141647996
|
|
NM_000208.4(INSR):c.*1190A>G
|
rs1972310295
|
|
NM_000208.4(INSR):c.*130A>T
|
rs571448308
|
|
NM_000208.4(INSR):c.*1416del
|
rs3833238
|
|
NM_000208.4(INSR):c.*1525G>A
|
rs886054674
|
|
NM_000208.4(INSR):c.*1592G>A
|
rs886054673
|
|
NM_000208.4(INSR):c.*1831C>A
|
rs111750247
|
|
NM_000208.4(INSR):c.*1831C>T
|
rs111750247
|
|
NM_000208.4(INSR):c.*1909A>G
|
rs989727643
|
|
NM_000208.4(INSR):c.*2102T>C
|
rs1972287724
|
|
NM_000208.4(INSR):c.*2145_*2146dup
|
rs57473640
|
|
NM_000208.4(INSR):c.*214G>A
|
rs1972340823
|
|
NM_000208.4(INSR):c.*2633del
|
rs532103296
|
|
NM_000208.4(INSR):c.*2752C>G
|
rs577444458
|
|
NM_000208.4(INSR):c.*2752C>T
|
rs577444458
|
|
NM_000208.4(INSR):c.*288del
|
rs35434645
|
|
NM_000208.4(INSR):c.*289del
|
rs886054684
|
|
NM_000208.4(INSR):c.*3008_*3009del
|
rs1555733404
|
|
NM_000208.4(INSR):c.*3008del
|
rs72149315
|
|
NM_000208.4(INSR):c.*3010del
|
rs886054664
|
|
NM_000208.4(INSR):c.*3013C>G
|
rs533582304
|
|
NM_000208.4(INSR):c.*302A>G
|
rs1972337815
|
|
NM_000208.4(INSR):c.*3101C>G
|
rs1474403993
|
|
NM_000208.4(INSR):c.*334C>T
|
rs1016923782
|
|
NM_000208.4(INSR):c.*334del
|
rs886054683
|
|
NM_000208.4(INSR):c.*3365C>A
|
rs561270909
|
|
NM_000208.4(INSR):c.*3390CAA[4]
|
rs886054663
|
|
NM_000208.4(INSR):c.*348_*355dup
|
rs71177157
|
|
NM_000208.4(INSR):c.*349_*355dup
|
rs71177157
|
|
NM_000208.4(INSR):c.*352_*355dup
|
rs71177157
|
|
NM_000208.4(INSR):c.*355_*356del
|
rs1491388964
|
|
NM_000208.4(INSR):c.*356_*357del
|
rs1555733954
|
|
NM_000208.4(INSR):c.*358_*359insTTTTTT
|
rs886054680
|
|
NM_000208.4(INSR):c.*3855C>G
|
rs1233808516
|
|
NM_000208.4(INSR):c.*3858G>A
|
rs912366991
|
|
NM_000208.4(INSR):c.*4349C>T
|
rs886054661
|
|
NM_000208.4(INSR):c.*4376G>C
|
rs1277836861
|
|
NM_000208.4(INSR):c.*4719dup
|
rs543556010
|
|
NM_000208.4(INSR):c.*4736T>G
|
rs886054658
|
|
NM_000208.4(INSR):c.*511del
|
rs886054679
|
|
NM_000208.4(INSR):c.*541dup
|
rs886054678
|
|
NM_000208.4(INSR):c.*743A>G
|
rs1459964736
|
|
NM_000208.4(INSR):c.*853A>C
|
rs886054677
|
|
NM_000208.4(INSR):c.*927_*928insG
|
rs886054675
|
|
NM_000208.4(INSR):c.*930dup
|
rs34045095
|
|
NM_000208.4(INSR):c.*959A>G
|
rs988651664
|
|
NM_000208.4(INSR):c.*973dup
|
rs547421118
|
|
NM_000208.4(INSR):c.1001C>T (p.Pro334Leu)
|
rs373995681
|
|
NM_000208.4(INSR):c.101-19T>C
|
|
|
NM_000208.4(INSR):c.101-1G>A
|
rs1568229439
|
|
NM_000208.4(INSR):c.101-2A>G
|
rs2145210376
|
|
NM_000208.4(INSR):c.1032C>T (p.Gly344=)
|
|
|
NM_000208.4(INSR):c.1073G>A (p.Arg358Gln)
|
|
|
NM_000208.4(INSR):c.1093G>A (p.Gly365Arg)
|
|
|
NM_000208.4(INSR):c.1123+19G>A
|
|
|
NM_000208.4(INSR):c.1123+268TTTTTA[3]
|
rs56082163
|
|
NM_000208.4(INSR):c.1123+4_1123+17del
|
|
|
NM_000208.4(INSR):c.1124-2A>G
|
rs587776819
|
|
NM_000208.4(INSR):c.1177G>A (p.Gly393Arg)
|
rs267607184
|
|
NM_000208.4(INSR):c.1179G>T (p.Gly393=)
|
rs140573575
|
|
NM_000208.4(INSR):c.1225T>G (p.Phe409Val)
|
rs121913142
|
|
NM_000208.4(INSR):c.1233G>A (p.Lys411=)
|
|
|
NM_000208.4(INSR):c.1238G>A (p.Arg413His)
|
|
|
NM_000208.4(INSR):c.1245T>A (p.Ile415=)
|
|
|
NM_000208.4(INSR):c.1252G>A (p.Glu418Lys)
|
|
|
NM_000208.4(INSR):c.1254G>C (p.Glu418Asp)
|
|
|
NM_000208.4(INSR):c.126C>A (p.Asn42Lys)
|
rs121913143
|
|
NM_000208.4(INSR):c.1295A>G (p.Asn432Ser)
|
|
|
NM_000208.4(INSR):c.1305A>G (p.Leu435=)
|
rs1463291322
|
|
NM_000208.4(INSR):c.1316G>C (p.Trp439Ser)
|
rs121913158
|
|
NM_000208.4(INSR):c.1348C>T (p.Gln450Ter)
|
rs2144950571
|
|
NM_000208.4(INSR):c.1372A>G (p.Asn458Asp)
|
rs121913160
|
|
NM_000208.4(INSR):c.1377C>G (p.Pro459=)
|
|
|
NM_000208.4(INSR):c.1379A>C (p.Lys460Thr)
|
|
|
NM_000208.4(INSR):c.1432C>T (p.Arg478Cys)
|
|
|
NM_000208.4(INSR):c.143A>G (p.His48Arg)
|
rs1364492874
|
|
NM_000208.4(INSR):c.1459A>C (p.Lys487Gln)
|
rs121913136
|
|
NM_000208.4(INSR):c.1484-108G>A
|
rs2245143
|
|
NM_000208.4(INSR):c.1484-108G>C
|
rs2245143
|
|
NM_000208.4(INSR):c.14del (p.Gly5fs)
|
rs1419070784
|
|
NM_000208.4(INSR):c.1513A>G (p.Ile505Val)
|
rs1599937384
|
|
NM_000208.4(INSR):c.1536C>A (p.Ile512=)
|
rs1599937292
|
|
NM_000208.4(INSR):c.1549G>A (p.Glu517Lys)
|
|
|
NM_000208.4(INSR):c.1573C>T (p.Arg525Ter)
|
rs1599937180
|
|
NM_000208.4(INSR):c.1610+1G>A
|
|
|
NM_000208.4(INSR):c.1610C>T (p.Ala537Val)
|
|
|
NM_000208.4(INSR):c.1638C>T (p.Asp546=)
|
rs2229429
|
|
NM_000208.4(INSR):c.164T>C (p.Val55Ala)
|
rs121913152
|
|
NM_000208.4(INSR):c.1650G>A (p.Ala550=)
|
rs2059806
|
|
NM_000208.4(INSR):c.167T>C (p.Ile56Thr)
|
rs1555689937
|
|
NM_000208.4(INSR):c.169G>A (p.Glu57Lys)
|
rs886044001
|
|
NM_000208.4(INSR):c.172G>A (p.Gly58Arg)
|
rs52836744
|
|
NM_000208.4(INSR):c.1741C>T (p.Arg581Trp)
|
rs1555743340
|
|
NM_000208.4(INSR):c.1843G>A (p.Val615Ile)
|
rs1240624261
|
|
NM_000208.4(INSR):c.1852_1853delinsCT (p.Asp618Leu)
|
|
|
NM_000208.4(INSR):c.1861+107dup
|
rs57156578
|
|
NM_000208.4(INSR):c.1861+286_1861+287del
|
rs200089915
|
|
NM_000208.4(INSR):c.1861+287del
|
rs200089915
|
|
NM_000208.4(INSR):c.1861+8T>A
|
|
|
NM_000208.4(INSR):c.1866C>T (p.Pro622=)
|
rs767792551
|
|
NM_000208.4(INSR):c.1884A>G (p.Pro628=)
|
|
|
NM_000208.4(INSR):c.1907C>T (p.Ser636Phe)
|
rs1168145595
|
|
NM_000208.4(INSR):c.1973T>G (p.Phe658Cys)
|
|
|
NM_000208.4(INSR):c.1988C>T (p.Ala663Val)
|
rs201034510
|
|
NM_000208.4(INSR):c.19C>T (p.Arg7Trp)
|
|
|
NM_000208.4(INSR):c.2029+115AC[6]
|
rs60452030
|
|
NM_000208.4(INSR):c.2029+17G>T
|
|
|
NM_000208.4(INSR):c.2030-107_2030-106insGTATGTGTG
|
rs780092187
|
|
NM_000208.4(INSR):c.2030-121_2030-106del
|
rs778336861
|
|
NM_000208.4(INSR):c.2030-138TG[5]
|
rs373172538
|
|
NM_000208.4(INSR):c.2030-175GT[2]
|
rs202053464
|
|
NM_000208.4(INSR):c.2030-269TG[6]
|
rs140195352
|
|
NM_000208.4(INSR):c.2030_2267+1del
|
|
|
NM_000208.4(INSR):c.2034G>A (p.Leu678=)
|
|
|
NM_000208.4(INSR):c.2084A>G (p.Gln695Arg)
|
|
|
NM_000208.4(INSR):c.2095C>T (p.Gln699Ter)
|
rs121913137
|
|
NM_000208.4(INSR):c.2101G>A (p.Glu701Lys)
|
|
|
NM_000208.4(INSR):c.2122G>A (p.Glu708Lys)
|
|
|
NM_000208.4(INSR):c.2126G>A (p.Cys709Tyr)
|
|
|
NM_000208.4(INSR):c.2178C>A (p.Ser726=)
|
|
|
NM_000208.4(INSR):c.2185A>G (p.Arg729Gly)
|
rs2144890944
|
|
NM_000208.4(INSR):c.2199G>A (p.Glu733=)
|
|
|
NM_000208.4(INSR):c.2214C>T (p.Asn738=)
|
|
|
NM_000208.4(INSR):c.2245G>A (p.Gly749Ser)
|
rs545885277
|
|
NM_000208.4(INSR):c.2250T>C (p.Thr750=)
|
rs1599907812
|
|
NM_000208.4(INSR):c.2267G>A (p.Arg756Lys)
|
|
|
NM_000208.4(INSR):c.2268-51dup
|
rs11400403
|
|
NM_000208.4(INSR):c.226C>G (p.Leu76Val)
|
|
|
NM_000208.4(INSR):c.2286G>T (p.Arg762Ser)
|
rs121913138
|
|
NM_000208.4(INSR):c.2296G>A (p.Asp766Asn)
|
|
|
NM_000208.4(INSR):c.2320G>A (p.Val774Met)
|
|
|
NM_000208.4(INSR):c.2328G>A (p.Thr776=)
|
|
|
NM_000208.4(INSR):c.2362G>A (p.Val788Met)
|
|
|
NM_000208.4(INSR):c.2375C>T (p.Pro792Leu)
|
|
|
NM_000208.4(INSR):c.2384_2387dup (p.Pro797fs)
|
rs1568441899
|
|
NM_000208.4(INSR):c.241C>G (p.Leu81Val)
|
|
|
NM_000208.4(INSR):c.2456G>A (p.Arg819His)
|
|
|
NM_000208.4(INSR):c.2471C>T (p.Ala824Val)
|
rs886054689
|
|
NM_000208.4(INSR):c.2480_2487del (p.Gln827fs)
|
rs587776820
|
|
NM_000208.4(INSR):c.250A>G (p.Ile84Val)
|
rs772506019
|
|
NM_000208.4(INSR):c.2518G>A (p.Val840Ile)
|
|
|
NM_000208.4(INSR):c.2522G>A (p.Ser841Asn)
|
rs780976765
|
|
NM_000208.4(INSR):c.2526G>C (p.Ala842=)
|
rs2229430
|
|
NM_000208.4(INSR):c.2574G>A (p.Thr858=)
|
|
|
NM_000208.4(INSR):c.2599G>A (p.Val867Ile)
|
|
|
NM_000208.4(INSR):c.25dup (p.Ala9fs)
|
|
|
NM_000208.4(INSR):c.2602C>T (p.His868Tyr)
|
rs370120425
|
|
NM_000208.4(INSR):c.2674G>A (p.Gly892Ser)
|
|
|
NM_000208.4(INSR):c.2682+6G>T
|
|
|
NM_000208.4(INSR):c.2683-243C>T
|
rs72990436
|
|
NM_000208.4(INSR):c.2683-309del
|
rs10710758
|
|
NM_000208.4(INSR):c.2697C>T (p.Cys899=)
|
|
|
NM_000208.4(INSR):c.2739G>T (p.Leu913=)
|
rs753461226
|
|
NM_000208.4(INSR):c.2740C>T (p.Arg914Cys)
|
|
|
NM_000208.4(INSR):c.2741G>A (p.Arg914His)
|
|
|
NM_000208.4(INSR):c.2765G>A (p.Ser922Asn)
|
|
|
NM_000208.4(INSR):c.2767G>A (p.Val923Met)
|
rs760156961
|
|
NM_000208.4(INSR):c.2770C>T (p.Arg924Ter)
|
rs387906538
|
|
NM_000208.4(INSR):c.2774T>C (p.Ile925Thr)
|
rs1599881881
|
|
NM_000208.4(INSR):c.2775C>A (p.Ile925=)
|
rs1423085867
|
|
NM_000208.4(INSR):c.2792C>T (p.Ala931Val)
|
|
|
NM_000208.4(INSR):c.2810C>T (p.Thr937Met)
|
|
|
NM_000208.4(INSR):c.2830G>C (p.Val944Leu)
|
|
|
NM_000208.4(INSR):c.2842+171_2842+172del
|
rs148055651
|
|
NM_000208.4(INSR):c.2842+33G>A
|
rs35169098
|
|
NM_000208.4(INSR):c.2843-5T>G
|
rs1555736265
|
|
NM_000208.4(INSR):c.2901C>T (p.Leu967=)
|
|
|
NM_000208.4(INSR):c.2929_2932del (p.Leu977fs)
|
rs1555736246
|
|
NM_000208.4(INSR):c.2933T>A (p.Phe978Tyr)
|
rs886054688
|
|
NM_000208.4(INSR):c.2945+218dup
|
rs58240555
|
|
NM_000208.4(INSR):c.2946-20G>A
|
|
|
NM_000208.4(INSR):c.2946-228del
|
rs11292032
|
|
NM_000208.4(INSR):c.297G>T (p.Leu99=)
|
|
|
NM_000208.4(INSR):c.3003_3012delinsGGAAG (p.Ser1001fs)
|
rs1555735951
|
|
NM_000208.4(INSR):c.3013+271A>G
|
rs10407499
|
|
NM_000208.4(INSR):c.3023G>C (p.Cys1008Ser)
|
rs1281347529
|
|
NM_000208.4(INSR):c.3052G>T (p.Val1018Leu)
|
rs2144814502
|
|
NM_000208.4(INSR):c.3054G>A (p.Val1018=)
|
rs886054687
|
|
NM_000208.4(INSR):c.3071C>T (p.Thr1024Ile)
|
rs780301757
|
|
NM_000208.4(INSR):c.307T>C (p.Phe103Leu)
|
rs1568229181
|
|
NM_000208.4(INSR):c.3094G>A (p.Gly1032Ser)
|
|
|
NM_000208.4(INSR):c.309C>T (p.Phe103=)
|
rs1600111692
|
|
NM_000208.4(INSR):c.3104G>T (p.Gly1035Val)
|
rs121913135
|
|
NM_000208.4(INSR):c.3138C>A (p.Ile1046=)
|
|
|
NM_000208.4(INSR):c.3157C>T (p.Arg1053Cys)
|
|
|
NM_000208.4(INSR):c.3164C>T (p.Ala1055Val)
|
rs1599874183
|
|
NM_000208.4(INSR):c.3165G>A (p.Ala1055=)
|
rs201445608
|
|
NM_000208.4(INSR):c.3191G>A (p.Ser1064Asn)
|
|
|
NM_000208.4(INSR):c.3203G>A (p.Arg1068Gln)
|
|
|
NM_000208.4(INSR):c.3234G>A (p.Met1078Ile)
|
rs2144813778
|
|
NM_000208.4(INSR):c.3259-304G>A
|
rs8100252
|
|
NM_000208.4(INSR):c.3261G>A (p.Val1087=)
|
rs2144806014
|
|
NM_000208.4(INSR):c.329G>A (p.Arg110Gln)
|
|
|
NM_000208.4(INSR):c.3312G>A (p.Glu1104=)
|
|
|
NM_000208.4(INSR):c.3337A>G (p.Ser1113Gly)
|
|
|
NM_000208.4(INSR):c.3364G>A (p.Ala1122Thr)
|
rs1250061465
|
|
NM_000208.4(INSR):c.3370-16C>G
|
|
|
NM_000208.4(INSR):c.3370-16C>T
|
|
|
NM_000208.4(INSR):c.338G>C (p.Arg113Pro)
|
rs121913153
|
|
NM_000208.4(INSR):c.3408G>C (p.Met1136Ile)
|
|
|
NM_000208.4(INSR):c.3410T>C (p.Ile1137Thr)
|
rs775854644
|
|
NM_000208.4(INSR):c.3435C>T (p.Asp1145=)
|
|
|
NM_000208.4(INSR):c.3454G>C (p.Ala1152Pro)
|
rs777183063
|
|
NM_000208.4(INSR):c.3465T>C (p.Phe1155=)
|
|
|
NM_000208.4(INSR):c.3470A>G (p.His1157Arg)
|
rs957304581
|
|
NM_000208.4(INSR):c.3472C>T (p.Arg1158Trp)
|
|
|
NM_000208.4(INSR):c.3481G>A (p.Ala1161Thr)
|
rs121913139
|
|
NM_000208.4(INSR):c.3485C>A (p.Ala1162Glu)
|
rs121913154
|
|
NM_000208.4(INSR):c.3485C>T (p.Ala1162Val)
|
|
|
NM_000208.4(INSR):c.3489A>C (p.Arg1163Ser)
|
|
|
NM_000208.4(INSR):c.350_353del (p.Asn117fs)
|
rs1347163319
|
|
NM_000208.4(INSR):c.3529+129del
|
rs141692149
|
|
NM_000208.4(INSR):c.3540G>A (p.Met1180Ile)
|
rs121913157
|
|
NM_000208.4(INSR):c.356C>T (p.Ala119Val)
|
|
|
NM_000208.4(INSR):c.3601C>T (p.Arg1201Trp)
|
rs1568426700
|
|
NM_000208.4(INSR):c.3602G>A (p.Arg1201Gln)
|
rs121913156
|
|
NM_000208.4(INSR):c.3633_3634del (p.Val1212fs)
|
|
|
NM_000208.4(INSR):c.3660-182GT[2]
|
rs201739191
|
|
NM_000208.4(INSR):c.3660-182_3660-181insCGTGTT
|
rs371272167
|
|
NM_000208.4(INSR):c.3660-190_3660-189insTGTGTGTT
|
rs57039491
|
|
NM_000208.4(INSR):c.3660-246_3660-241del
|
rs66637440
|
|
NM_000208.4(INSR):c.3660-270GT[3]
|
rs66587318
|
|
NM_000208.4(INSR):c.3660-279TG[3]
|
rs66500056
|
|
NM_000208.4(INSR):c.3660-56GT[8]
|
rs367614576
|
|
NM_000208.4(INSR):c.3661T>G (p.Ser1221Ala)
|
rs201979105
|
|
NM_000208.4(INSR):c.3668G>A (p.Gly1223Asp)
|
rs1555734564
|
|
NM_000208.4(INSR):c.3680G>C (p.Trp1227Ser)
|
rs121913140
|
|
NM_000208.4(INSR):c.3694T>C (p.Leu1232=)
|
rs1599866174
|
|
NM_000208.4(INSR):c.3795-66G>A
|
rs11883325
|
|
NM_000208.4(INSR):c.3802_3804del (p.Leu1268del)
|
rs2144790591
|
|
NM_000208.4(INSR):c.3886C>T (p.Pro1296Ser)
|
|
|
NM_000208.4(INSR):c.38C>T (p.Pro13Leu)
|
|
|
NM_000208.4(INSR):c.3918C>T (p.Ser1306=)
|
|
|
NM_000208.4(INSR):c.3919G>A (p.Glu1307Lys)
|
|
|
NM_000208.4(INSR):c.394G>A (p.Gly132Ser)
|
rs886037750
|
|
NM_000208.4(INSR):c.3955A>T (p.Met1319Leu)
|
rs1599863704
|
|
NM_000208.4(INSR):c.3957G>C (p.Met1319Ile)
|
rs199599404
|
|
NM_000208.4(INSR):c.3964G>C (p.Glu1322Gln)
|
rs2144790104
|
|
NM_000208.4(INSR):c.3991C>T (p.Arg1331Cys)
|
|
|
NM_000208.4(INSR):c.3999G>T (p.Ser1333=)
|
rs746489788
|
|
NM_000208.4(INSR):c.39delinsCCTGCTGGTGGCGGTGGCCGCGCCC (p.Pro13_Ala20dup)
|
rs2145264985
|
|
NM_000208.4(INSR):c.4024G>A (p.Gly1342Ser)
|
|
|
NM_000208.4(INSR):c.4044G>C (p.Ser1348=)
|
rs551853926
|
|
NM_000208.4(INSR):c.4049G>A (p.Gly1350Asp)
|
|
|
NM_000208.4(INSR):c.4065C>A (p.Tyr1355Ter)
|
rs140573377
|
|
NM_000208.4(INSR):c.4086A>G (p.Thr1362=)
|
|
|
NM_000208.4(INSR):c.408G>A (p.Leu136=)
|
rs1568229079
|
|
NM_000208.4(INSR):c.4121T>G (p.Leu1374Arg)
|
|
|
NM_000208.4(INSR):c.4133G>A (p.Arg1378Gln)
|
rs52826008
|
|
NM_000208.4(INSR):c.4133G>C (p.Arg1378Pro)
|
rs52826008
|
|
NM_000208.4(INSR):c.4134G>C (p.Arg1378=)
|
rs763796481
|
|
NM_000208.4(INSR):c.421C>T (p.Arg141Trp)
|
rs1555689823
|
|
NM_000208.4(INSR):c.422G>A (p.Arg141Gln)
|
|
|
NM_000208.4(INSR):c.438C>G (p.Ile146Met)
|
rs121913159
|
|
NM_000208.4(INSR):c.442A>T (p.Lys148Ter)
|
rs121913155
|
|
NM_000208.4(INSR):c.448A>G (p.Asn150Asp)
|
|
|
NM_000208.4(INSR):c.479G>A (p.Trp160Ter)
|
rs121913146
|
|
NM_000208.4(INSR):c.489C>A (p.Ile163=)
|
rs530955658
|
|
NM_000208.4(INSR):c.498C>T (p.Ser166=)
|
|
|
NM_000208.4(INSR):c.509dup (p.Asn170fs)
|
|
|
NM_000208.4(INSR):c.561G>A (p.Pro187=)
|
|
|
NM_000208.4(INSR):c.595dup (p.Thr199fs)
|
|
|
NM_000208.4(INSR):c.601A>G (p.Ile201Val)
|
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|
NM_000208.4(INSR):c.608G>A (p.Gly203Glu)
|
|
|
NM_000208.4(INSR):c.632C>T (p.Thr211Ile)
|
rs1967766760
|
|
NM_000208.4(INSR):c.640C>A (p.His214Asn)
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|
|
NM_000208.4(INSR):c.652+19G>T
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|
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NM_000208.4(INSR):c.652+78del
|
rs3837940
|
|
NM_000208.4(INSR):c.653-23TC[11]
|
rs3835070
|
|
NM_000208.4(INSR):c.653-23TC[12]
|
rs3835070
|
|
NM_000208.4(INSR):c.653-23TC[13]
|
rs3835070
|
|
NM_000208.4(INSR):c.653-23TC[14]
|
rs3835070
|
|
NM_000208.4(INSR):c.653-23TC[15]
|
rs3835070
|
|
NM_000208.4(INSR):c.653-23TC[16]
|
rs3835070
|
|
NM_000208.4(INSR):c.653-23TC[19]
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NM_000208.4(INSR):c.653-23TC[20]
|
rs3835070
|
|
NM_000208.4(INSR):c.653-23TC[21]
|
|
|
NM_000208.4(INSR):c.653-23TC[5]
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|
NM_000208.4(INSR):c.653-23TC[8]
|
rs3835070
|
|
NM_000208.4(INSR):c.653-23TC[9]
|
rs3835070
|
|
NM_000208.4(INSR):c.653-5_653-4insTC
|
rs1555746859
|
|
NM_000208.4(INSR):c.653-70ATTT[10]
|
rs57380348
|
|
NM_000208.4(INSR):c.653-70ATTT[12]
|
rs57380348
|
|
NM_000208.4(INSR):c.653-70ATTT[9]
|
rs57380348
|
|
NM_000208.4(INSR):c.653-7T>C
|
|
|
NM_000208.4(INSR):c.653-7_653-6insTC
|
rs1555746860
|
|
NM_000208.4(INSR):c.653-9T>C
|
rs868296217
|
|
NM_000208.4(INSR):c.653-9_653-7delinsC
|
rs1568470641
|
|
NM_000208.4(INSR):c.660_661del (p.Thr221fs)
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|
NM_000208.4(INSR):c.665T>C (p.Ile222Thr)
|
|
|
NM_000208.4(INSR):c.698T>G (p.Leu233Arg)
|
rs387906539
|
|
NM_000208.4(INSR):c.704G>T (p.Cys235Phe)
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|
|
NM_000208.4(INSR):c.712G>A (p.Glu238Lys)
|
|
|
NM_000208.4(INSR):c.728G>A (p.Cys243Tyr)
|
rs911809758
|
|
NM_000208.4(INSR):c.739G>A (p.Asp247Asn)
|
|
|
NM_000208.4(INSR):c.741C>T (p.Asp247=)
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|
|
NM_000208.4(INSR):c.779T>C (p.Leu260Pro)
|
rs121913141
|
|
NM_000208.4(INSR):c.783C>G (p.Asp261Glu)
|
rs891087
|
|
NM_000208.4(INSR):c.784G>A (p.Gly262Ser)
|
rs141484557
|
|
NM_000208.4(INSR):c.796G>A (p.Glu266Lys)
|
|
|
NM_000208.4(INSR):c.851G>A (p.Ser284Asn)
|
rs2144988797
|
|
NM_000208.4(INSR):c.890G>A (p.Arg297Gln)
|
|
|
NM_000208.4(INSR):c.891G>A (p.Arg297=)
|
rs1024295249
|
|
NM_000208.4(INSR):c.895C>G (p.Gln299Glu)
|
|
|
NM_000208.4(INSR):c.921CAA[2] (p.Asn309del)
|
rs775724610
|
|
NM_000208.4(INSR):c.936C>T (p.Ile312=)
|
rs760555781
|
|
NM_000208.4(INSR):c.951C>T (p.Ser317=)
|
|
|
NM_000208.4(INSR):c.952G>A (p.Gly318Arg)
|
|
|
NM_000208.4(INSR):c.974+240C>T
|
rs867527884
|
|
NM_000208.4(INSR):c.974+52G>A
|
rs2860179
|
|
NM_000208.4(INSR):c.975-25CT[7]
|
|
|
NM_000208.4(INSR):c.975-9C>T
|
|
|
NM_000208.4(INSR):c.989C>A (p.Pro330Gln)
|
|
|