NM_153717.3(EVC):c.1886+172C>A
|
rs4689303
|
0.99999
|
NM_153717.3(EVC):c.2449+83C>T
|
rs1031918
|
0.69606
|
NM_153717.3(EVC):c.1886+266G>A
|
rs13101471
|
0.68182
|
NM_153717.3(EVC):c.1886+253C>T
|
rs13103000
|
0.61295
|
NM_153717.3(EVC):c.802-311T>C
|
rs1351357
|
0.56695
|
NM_153717.3(EVC):c.939+224C>T
|
rs1001180
|
0.56133
|
NM_153717.3(EVC):c.939+63C>A
|
rs13145958
|
0.55696
|
NM_153717.3(EVC):c.1098+51A>T
|
rs4688961
|
0.52782
|
NM_153717.3(EVC):c.300+213C>T
|
rs4539985
|
0.50006
|
NM_153717.3(EVC):c.1776+206C>G
|
rs2878427
|
0.49620
|
NM_153717.3(EVC):c.1316-139G>C
|
rs7660793
|
0.44434
|
NM_153717.3(EVC):c.940-71G>A
|
rs4689311
|
0.41251
|
NM_153717.3(EVC):c.940-91G>A
|
rs4689312
|
0.40577
|
NM_153717.3(EVC):c.1098+194C>T
|
rs13116719
|
0.38637
|
NM_153717.3(EVC):c.1099-19T>C
|
rs899691
|
0.37351
|
NM_153717.3(EVC):c.1098+123A>G
|
rs13143108
|
0.36494
|
NM_153717.3(EVC):c.1887-122G>A
|
rs2291152
|
0.33022
|
NM_153717.3(EVC):c.702+154G>C
|
rs36091422
|
0.30585
|
NM_153717.3(EVC):c.2561+221A>G
|
rs2279251
|
0.29297
|
NM_153717.3(EVC):c.2450-91T>C
|
rs1552057
|
0.29056
|
NM_153717.3(EVC):c.2449+82A>G
|
rs2306399
|
0.28404
|
NM_153717.3(EVC):c.1316-220G>A
|
rs752061
|
0.28374
|
NM_153717.3(EVC):c.1465-285A>G
|
rs12499446
|
0.26870
|
NM_153717.3(EVC):c.2305-44C>T
|
rs2306400
|
0.26578
|
NM_153717.3(EVC):c.2097+118G>A
|
rs12509231
|
0.26519
|
NM_153717.3(EVC):c.2895-114A>G
|
rs2279247
|
0.26058
|
NM_153717.3(EVC):c.2895-249T>C
|
rs2279248
|
0.24744
|
NM_153717.3(EVC):c.1098+231C>T
|
rs199978696
|
0.21529
|
NM_153717.3(EVC):c.939+114G>A
|
rs28609792
|
0.21365
|
NM_153717.3(EVC):c.702+141C>T
|
rs2291155
|
0.21152
|
NM_153717.3(EVC):c.1098+230C>G
|
rs56236353
|
0.21125
|
NM_153717.3(EVC):c.1098+232A>G
|
rs56287837
|
0.20815
|
NM_153717.3(EVC):c.801+240C>T
|
rs1480169
|
0.20327
|
NM_153717.3(EVC):c.1465-47A>C
|
rs4642178
|
0.20086
|
NM_153717.3(EVC):c.1464+236G>T
|
rs9637548
|
0.19846
|
NM_153717.3(EVC):c.618-196C>G
|
rs73795032
|
0.18001
|
NM_153717.3(EVC):c.301-80G>A
|
rs2276875
|
0.17578
|
NM_153717.3(EVC):c.174+238T>A
|
rs3755844
|
0.15474
|
NM_153717.3(EVC):c.2894+248A>T
|
rs2279249
|
0.15238
|
NM_153717.3(EVC):c.174+31G>C
|
rs2276874
|
0.14512
|
NM_153717.3(EVC):c.1098+244_1098+311del
|
rs1560330268
|
0.14463
|
NM_153717.3(EVC):c.1464+177T>A
|
rs2302074
|
0.14282
|
NM_153717.3(EVC):c.940-61C>T
|
rs4688964
|
0.14005
|
NM_153717.3(EVC):c.*210C>A
|
rs16837692
|
0.13049
|
NM_153717.3(EVC):c.940-266C>T
|
rs73200158
|
0.12061
|
NM_153717.3(EVC):c.2561+144G>T
|
rs62297684
|
0.11472
|
NM_153717.3(EVC):c.174+303C>T
|
rs3755845
|
0.11358
|
NM_153717.3(EVC):c.802-15del
|
rs369153323
|
0.10885
|
NM_153717.3(EVC):c.940-259T>G
|
rs57112774
|
0.10165
|
NM_153717.3(EVC):c.1315+271C>T
|
rs11731603
|
0.10108
|
NM_153717.3(EVC):c.2097+111A>C
|
rs76138881
|
0.09446
|
NM_153717.3(EVC):c.618-121G>A
|
rs75063475
|
0.09118
|
NM_153717.3(EVC):c.1886+202G>C
|
rs41269561
|
0.08909
|
NM_153717.3(EVC):c.2782+145G>T
|
rs28722043
|
0.08527
|
NM_153717.3(EVC):c.384+41C>T
|
rs113870218
|
0.08516
|
NM_153717.3(EVC):c.1098+272A>G
|
rs567230595
|
0.08270
|
NM_153717.3(EVC):c.385-174G>A
|
rs1871587
|
0.07869
|
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)
|
rs35953626
|
0.07232
|
NM_153717.3(EVC):c.617+133G>C
|
rs41269553
|
0.07170
|
NM_153717.3(EVC):c.2783-269A>G
|
rs9991936
|
0.06936
|
NM_153717.3(EVC):c.2688+330C>T
|
rs28479075
|
0.06866
|
NM_153717.3(EVC):c.802-313A>G
|
rs28600172
|
0.06571
|
NM_153717.3(EVC):c.*53T>C
|
rs7676531
|
0.06533
|
NM_153717.3(EVC):c.2782+173G>T
|
rs113039000
|
0.06505
|
NM_153717.3(EVC):c.1115C>T (p.Thr372Met)
|
rs28483498
|
0.06438
|
NM_153717.3(EVC):c.1099-144G>T
|
rs60938393
|
0.06418
|
NM_153717.3(EVC):c.1098+119del
|
rs150500409
|
0.06404
|
NM_153717.3(EVC):c.2449+317A>T
|
rs7694192
|
0.06346
|
NM_153717.3(EVC):c.617+154A>G
|
rs55634350
|
0.06329
|
NM_153717.3(EVC):c.1098+297C>T
|
rs13116942
|
0.06266
|
NM_153717.3(EVC):c.702+27C>G
|
rs16837599
|
0.06199
|
NM_153717.3(EVC):c.1098+277C>T
|
rs62300389
|
0.05879
|
NM_153717.3(EVC):c.939+84A>G
|
rs16837617
|
0.05606
|
NM_153717.3(EVC):c.385-170T>A
|
rs28718969
|
0.05370
|
NM_153717.3(EVC):c.801+231del
|
rs140940968
|
0.04155
|
NM_153717.3(EVC):c.2562-45T>C
|
rs1249571815
|
0.03730
|
NM_153717.3(EVC):c.2782+264A>G
|
rs78275936
|
0.03258
|
NM_153717.3(EVC):c.175-236G>T
|
rs79190209
|
0.03193
|
NM_153717.3(EVC):c.940-68C>T
|
rs56193413
|
0.02883
|
NM_153717.3(EVC):c.802-242G>A
|
rs73200154
|
0.02863
|
NM_153717.3(EVC):c.939+11G>T
|
rs55955937
|
0.02788
|
NM_153717.3(EVC):c.1098+293T>C
|
rs1480974188
|
0.02409
|
NM_153717.3(EVC):c.1887-90C>T
|
rs111250893
|
0.01818
|
NM_153717.3(EVC):c.1563+1754G>A
|
rs115269936
|
0.01725
|
NM_153717.3(EVC):c.2450-207C>T
|
rs73077529
|
0.01618
|
NM_153717.3(EVC):c.1464+272C>T
|
rs7667883
|
0.01536
|
NM_153717.3(EVC):c.1464+58G>A
|
rs75743916
|
0.01534
|
NM_153717.3(EVC):c.2688+33A>G
|
rs6845066
|
0.01448
|
NM_153717.3(EVC):c.2689-225G>A
|
rs73077601
|
0.01424
|
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln)
|
rs2279252
|
0.01416
|
NM_153717.3(EVC):c.2098-294C>T
|
rs112863125
|
0.01392
|
NM_153717.3(EVC):c.2098-229C>T
|
rs78475125
|
0.01391
|
NM_153717.3(EVC):c.2097+40G>A
|
rs80194963
|
0.01388
|
NM_153717.3(EVC):c.301-268T>C
|
rs115771644
|
0.01380
|
NM_153717.3(EVC):c.174+151C>T
|
rs75071940
|
0.01362
|
NM_153717.3(EVC):c.940-61_940-60insCTTTG
|
rs144810134
|
0.01259
|
NM_153717.3(EVC):c.1777-96C>T
|
rs58369380
|
0.01214
|
NM_153717.3(EVC):c.1564-240G>T
|
rs115336887
|
0.01198
|
NM_153717.3(EVC):c.2305-45A>C
|
rs114214189
|
0.01191
|
NM_153717.3(EVC):c.2783-271G>A
|
rs74714062
|
0.01181
|
NM_153717.3(EVC):c.2688+272A>G
|
rs75292798
|
0.01180
|
NM_153717.3(EVC):c.1563+217A>G
|
rs115641097
|
0.01172
|
NM_153717.3(EVC):c.1464+8A>G
|
rs116236414
|
0.01163
|
NM_153717.3(EVC):c.2688+301C>G
|
rs76663613
|
0.01162
|
NM_153717.3(EVC):c.2373G>A (p.Gln791=)
|
rs73795089
|
0.01161
|
NM_153717.3(EVC):c.2363G>A (p.Arg788His)
|
rs73795088
|
0.01159
|
NM_153717.3(EVC):c.385-16C>T
|
rs113571700
|
0.00995
|
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn)
|
rs35287723
|
0.00977
|
NM_153717.3(EVC):c.2561+258G>A
|
rs73795095
|
0.00970
|
NM_153717.3(EVC):c.2505G>A (p.Ser835=)
|
rs115976359
|
0.00969
|
NM_153717.3(EVC):c.1315+202G>A
|
rs115275064
|
0.00945
|
NM_153717.3(EVC):c.1886+142C>T
|
rs41269559
|
0.00842
|
NM_153717.3(EVC):c.2783-114A>G
|
rs112443560
|
0.00828
|
NM_153717.3(EVC):c.1887-160A>C
|
rs11729308
|
0.00794
|
NM_153717.3(EVC):c.2895-105A>C
|
rs141031111
|
0.00787
|
NM_153717.3(EVC):c.1564-205G>T
|
rs114987721
|
0.00779
|
NM_153717.3(EVC):c.2098-41G>A
|
rs148639524
|
0.00773
|
NM_153717.3(EVC):c.1316-57C>G
|
rs79758861
|
0.00769
|
NM_153717.3(EVC):c.301-218C>T
|
rs144757429
|
0.00750
|
NM_153717.3(EVC):c.175-120C>T
|
rs41269545
|
0.00747
|
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu)
|
rs60582583
|
0.00733
|
NM_153717.3(EVC):c.617+144G>A
|
rs115477664
|
0.00723
|
NM_153717.3(EVC):c.2895-34G>A
|
rs78968801
|
0.00703
|
NM_153717.3(EVC):c.2305-58G>A
|
rs115678357
|
0.00678
|
NM_153717.3(EVC):c.780G>A (p.Lys260=)
|
rs41269555
|
0.00676
|
NM_153717.3(EVC):c.384+282C>T
|
rs116362495
|
0.00664
|
NM_153717.3(EVC):c.801+216T>C
|
rs76877650
|
0.00661
|
NM_153717.3(EVC):c.2562-142C>G
|
rs148894154
|
0.00642
|
NM_153717.3(EVC):c.2689-23del
|
rs200834058
|
0.00593
|
NM_153717.3(EVC):c.385-332T>C
|
rs115572273
|
0.00589
|
NM_153717.3(EVC):c.2689-285G>C
|
rs144640786
|
0.00565
|
NM_153717.3(EVC):c.300+209A>G
|
rs114795599
|
0.00565
|
NM_153717.3(EVC):c.284A>G (p.Asp95Gly)
|
rs41269547
|
0.00561
|
NM_153717.3(EVC):c.1564-258A>T
|
rs112473947
|
0.00531
|
NM_153717.3(EVC):c.801+223T>C
|
rs116167025
|
0.00529
|
NM_153717.3(EVC):c.2561+294C>T
|
rs73204293
|
0.00498
|
NM_153717.3(EVC):c.2561+134C>T
|
rs141619432
|
0.00459
|
NM_153717.3(EVC):c.469C>G (p.Pro157Ala)
|
rs146729456
|
0.00451
|
NM_153717.3(EVC):c.1315+189C>T
|
rs147951625
|
0.00436
|
NM_153717.3(EVC):c.1098+280A>G
|
rs552568788
|
0.00415
|
NM_153717.3(EVC):c.1855G>A (p.Val619Ile)
|
rs111293777
|
0.00354
|
NM_153717.3(EVC):c.939+50G>A
|
rs144142557
|
0.00328
|
NM_153717.3(EVC):c.1127C>T (p.Ala376Val)
|
rs142535134
|
0.00309
|
NM_153717.3(EVC):c.532G>A (p.Val178Ile)
|
rs144897690
|
0.00243
|
NM_153717.3(EVC):c.1636A>G (p.Met546Val)
|
rs112608085
|
0.00209
|
NM_153717.3(EVC):c.939+9C>T
|
rs201282320
|
0.00205
|
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln)
|
rs41269557
|
0.00201
|
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)
|
rs41269549
|
0.00194
|
NM_153717.3(EVC):c.93C>G (p.Ala31=)
|
rs866226288
|
0.00194
|
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)
|
rs141859946
|
0.00188
|
NM_153717.3(EVC):c.1963G>A (p.Ala655Thr)
|
rs149344570
|
0.00177
|
NM_153717.3(EVC):c.934G>A (p.Asp312Asn)
|
rs115275195
|
0.00171
|
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)
|
rs149898884
|
0.00163
|
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln)
|
rs116952023
|
0.00150
|
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg)
|
rs35926225
|
0.00150
|
NM_153717.3(EVC):c.1040C>T (p.Thr347Met)
|
rs34947207
|
0.00127
|
NM_153717.3(EVC):c.89C>T (p.Pro30Leu)
|
rs886044558
|
0.00121
|
NM_153717.3(EVC):c.1464+5C>T
|
rs369734950
|
0.00120
|
NM_153717.3(EVC):c.2707A>G (p.Ile903Val)
|
rs143678893
|
0.00093
|
NM_153717.3(EVC):c.1770C>T (p.Asp590=)
|
rs141755737
|
0.00079
|
NM_153717.3(EVC):c.2322G>C (p.Ala774=)
|
rs150373930
|
0.00067
|
NM_153717.3(EVC):c.618-22C>T
|
rs2291156
|
0.00062
|
NM_153717.3(EVC):c.1128G>A (p.Ala376=)
|
rs111234281
|
0.00055
|
NM_153717.3(EVC):c.569G>T (p.Arg190Leu)
|
rs113002470
|
0.00051
|
NM_153717.3(EVC):c.175-18C>G
|
rs114621329
|
0.00047
|
NM_153717.3(EVC):c.1653G>A (p.Pro551=)
|
rs151293705
|
0.00044
|
NM_153717.3(EVC):c.1540G>A (p.Glu514Lys)
|
rs141896077
|
0.00042
|
NM_153717.3(EVC):c.1892C>T (p.Thr631Met)
|
rs139481521
|
0.00041
|
NM_153717.3(EVC):c.1321G>A (p.Val441Ile)
|
rs202150959
|
0.00036
|
NM_153717.3(EVC):c.1886+5G>T
|
rs794726665
|
0.00036
|
NM_153717.3(EVC):c.2712C>T (p.Ser904=)
|
rs146829332
|
0.00034
|
NM_153717.3(EVC):c.1928G>A (p.Arg643His)
|
rs144906677
|
0.00029
|
NM_153717.3(EVC):c.802-12C>T
|
rs61514191
|
0.00027
|
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr)
|
rs149537641
|
0.00024
|
NM_153717.3(EVC):c.2519C>T (p.Thr840Met)
|
rs143464806
|
0.00024
|
NM_153717.3(EVC):c.442T>C (p.Leu148=)
|
rs139931919
|
0.00022
|
NM_153717.3(EVC):c.105C>A (p.Gly35=)
|
rs745558003
|
0.00015
|
NM_153717.3(EVC):c.1818A>C (p.Thr606=)
|
rs202093497
|
0.00014
|
NM_153717.3(EVC):c.1523A>G (p.Glu508Gly)
|
rs370721640
|
0.00013
|
NM_153717.3(EVC):c.2449+4C>T
|
rs753679138
|
0.00013
|
NM_153717.3(EVC):c.1694del (p.Ala565fs)
|
rs753014919
|
0.00012
|
NM_153717.3(EVC):c.2298C>T (p.Asp766=)
|
rs140546984
|
0.00011
|
NM_153717.3(EVC):c.473C>G (p.Ser158Cys)
|
rs150284356
|
0.00011
|
NM_153717.3(EVC):c.77C>T (p.Ala26Val)
|
rs1035520087
|
0.00011
|
NM_153717.3(EVC):c.982C>T (p.Leu328Phe)
|
rs199916502
|
0.00011
|
NM_153717.3(EVC):c.1102G>A (p.Ala368Thr)
|
rs145645536
|
0.00010
|
NM_153717.3(EVC):c.1744C>G (p.Leu582Val)
|
rs367863826
|
0.00009
|
NM_153717.3(EVC):c.2392G>A (p.Gly798Arg)
|
rs142738089
|
0.00009
|
NM_153717.3(EVC):c.759A>G (p.Ser253=)
|
rs201105095
|
0.00009
|
NM_153717.3(EVC):c.1564-6C>T
|
rs188245524
|
0.00008
|
NM_153717.3(EVC):c.1807G>A (p.Val603Met)
|
rs886042994
|
0.00006
|
NM_153717.3(EVC):c.549C>T (p.Ser183=)
|
rs201071908
|
0.00005
|
NM_153717.3(EVC):c.1093G>A (p.Ala365Thr)
|
rs370388849
|
0.00004
|
NM_153717.3(EVC):c.2305-6C>T
|
rs781705295
|
0.00004
|
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)
|
rs121908425
|
0.00003
|
NM_153717.3(EVC):c.1349C>T (p.Ala450Val)
|
rs749008952
|
0.00003
|
NM_153717.3(EVC):c.1652C>T (p.Pro551Leu)
|
rs371682994
|
0.00003
|
NM_153717.3(EVC):c.1851C>G (p.Arg617=)
|
rs967986192
|
0.00003
|
NM_153717.3(EVC):c.2457G>A (p.Arg819=)
|
rs1243308266
|
0.00003
|
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)
|
rs767400887
|
0.00003
|
NM_153717.3(EVC):c.625G>A (p.Val209Ile)
|
rs202026284
|
0.00003
|
NM_153717.3(EVC):c.920C>G (p.Ser307Cys)
|
rs372548610
|
0.00003
|
NM_153717.3(EVC):c.409C>A (p.Pro137Thr)
|
rs752906200
|
0.00002
|
NM_153717.3(EVC):c.1247G>A (p.Arg416Gln)
|
rs745640537
|
0.00001
|
NM_153717.3(EVC):c.1315+7C>T
|
rs1252318929
|
0.00001
|
NM_153717.3(EVC):c.1315+8G>A
|
rs550411377
|
0.00001
|
NM_153717.3(EVC):c.175-9G>A
|
rs753317536
|
0.00001
|
NM_153717.3(EVC):c.1777-2A>G
|
rs909612975
|
0.00001
|
NM_153717.3(EVC):c.1957G>A (p.Gly653Ser)
|
rs762716384
|
0.00001
|
NM_153717.3(EVC):c.2114A>G (p.Glu705Gly)
|
rs765248751
|
0.00001
|
NM_153717.3(EVC):c.2782+13dup
|
rs770549797
|
0.00001
|
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter)
|
rs896581899
|
0.00001
|
NM_153717.3(EVC):c.364C>T (p.Pro122Ser)
|
rs1407007311
|
0.00001
|
NM_153717.3(EVC):c.57C>T (p.Asp19=)
|
rs1467149000
|
0.00001
|
NM_153717.3(EVC):c.873dup (p.Glu292Ter)
|
rs527255616
|
0.00001
|
NM_153717.3(EVC):c.928C>G (p.Leu310Val)
|
rs145300726
|
0.00001
|
GRCh37/hg19 4p16.2(chr4:5720274-5800154)x1
|
|
|
GRCh37/hg19 4p16.2(chr4:5731073-5762301)x3
|
|
|
GRCh37/hg19 4p16.2(chr4:5731518-5778783)x1
|
|
|
NM_153717.3(EVC):c.*1439C>T
|
rs188270163
|
|
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs)
|
rs767913372
|
|
NM_153717.3(EVC):c.1041G>A (p.Thr347=)
|
rs148418233
|
|
NM_153717.3(EVC):c.1082A>G (p.Gln361Arg)
|
rs886043999
|
|
NM_153717.3(EVC):c.1098+131del
|
rs201170910
|
|
NM_153717.3(EVC):c.1098+229_1098+230insGTGTCCATCCATCTAC
|
rs143227724
|
|
NM_153717.3(EVC):c.1098+260ATCC[6]
|
rs202244004
|
|
NM_153717.3(EVC):c.1098+277_1098+280del
|
rs200613491
|
|
NM_153717.3(EVC):c.1098+288_1098+289insCCCACCCA
|
rs1448895713
|
|
NM_153717.3(EVC):c.1099-167G>C
|
rs6810769
|
|
NM_153717.3(EVC):c.1099-208C>A
|
rs6812234
|
|
NM_153717.3(EVC):c.1099-208C>T
|
rs6812234
|
|
NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4])
|
rs1164121689
|
|
NM_153717.3(EVC):c.1203C>T (p.Ser401=)
|
rs867155796
|
|
NM_153717.3(EVC):c.1315+253C>T
|
rs116816567
|
|
NM_153717.3(EVC):c.134G>A (p.Trp45Ter)
|
rs1553857995
|
|
NM_153717.3(EVC):c.1416del (p.Phe473fs)
|
rs768485560
|
|
NM_153717.3(EVC):c.1465-44del
|
rs5855888
|
|
NM_153717.3(EVC):c.1465-44dup
|
rs5855888
|
|
NM_153717.3(EVC):c.1528G>A (p.Val510Ile)
|
rs143971158
|
|
NM_153717.3(EVC):c.1563+185A>G
|
rs12499655
|
|
NM_153717.3(EVC):c.1595A>G (p.Gln532Arg)
|
|
|
NM_153717.3(EVC):c.1684C>T (p.Gln562Ter)
|
rs751772225
|
|
NM_153717.3(EVC):c.1720C>T (p.Arg574Cys)
|
|
|
NM_153717.3(EVC):c.172C>T (p.Gln58Ter)
|
rs1057517899
|
|
NM_153717.3(EVC):c.1771C>T (p.Gln591Ter)
|
rs2152289454
|
|
NM_153717.3(EVC):c.1776+199C>T
|
rs112126279
|
|
NM_153717.3(EVC):c.1783_1886+40del
|
rs2152326431
|
|
NM_153717.3(EVC):c.1854C>T (p.Gly618=)
|
rs11737221
|
|
NM_153717.3(EVC):c.1886+5G>A
|
rs794726665
|
|
NM_153717.3(EVC):c.1887-5_1904del
|
rs779275317
|
|
NM_153717.3(EVC):c.1907A>G (p.Gln636Arg)
|
rs757227773
|
|
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln)
|
rs35401386
|
|
NM_153717.3(EVC):c.1979C>T (p.Thr660Met)
|
|
|
NM_153717.3(EVC):c.2098-178_2098-168del
|
rs3830226
|
|
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter)
|
rs1553891936
|
|
NM_153717.3(EVC):c.2304+2T>C
|
rs1553892090
|
|
NM_153717.3(EVC):c.2304+60A>C
|
rs73077517
|
|
NM_153717.3(EVC):c.2305-259_2305-258del
|
rs35554149
|
|
NM_153717.3(EVC):c.2305-260_2305-258del
|
rs35554149
|
|
NM_153717.3(EVC):c.2305-261_2305-258del
|
rs35554149
|
|
NM_153717.3(EVC):c.2329G>T (p.Glu777Ter)
|
|
|
NM_153717.3(EVC):c.2368G>A (p.Val790Met)
|
|
|
NM_153717.3(EVC):c.2416del (p.Glu806fs)
|
rs2152362140
|
|
NM_153717.3(EVC):c.2426T>G (p.Leu809Arg)
|
|
|
NM_153717.3(EVC):c.2449+10C>A
|
rs758387379
|
|
NM_153717.3(EVC):c.2449+15del
|
rs398092136
|
|
NM_153717.3(EVC):c.2504C>A (p.Ser835Ter)
|
rs1560439043
|
|
NM_153717.3(EVC):c.252del (p.Arg85fs)
|
rs1560274387
|
|
NM_153717.3(EVC):c.2561+232del
|
rs3214939
|
|
NM_153717.3(EVC):c.2561+90G>A
|
rs112874041
|
|
NM_153717.3(EVC):c.2562-4C>G
|
rs60082311
|
|
NM_153717.3(EVC):c.2562-70CTCC[6]
|
rs1177063514
|
|
NM_153717.3(EVC):c.2782+103C>T
|
rs3733185
|
|
NM_153717.3(EVC):c.2829_2830del (p.Asp945fs)
|
rs1460851298
|
|
NM_153717.3(EVC):c.2895-16_2895-13del
|
rs773917688
|
|
NM_153717.3(EVC):c.2897_2918dup (p.Ser974fs)
|
rs1560450412
|
|
NM_153717.3(EVC):c.301-171C>T
|
rs111861127
|
|
NM_153717.3(EVC):c.384+5G>C
|
rs1553865348
|
|
NM_153717.3(EVC):c.385-84G>T
|
rs1871586
|
|
NM_153717.3(EVC):c.414dup (p.Leu139fs)
|
rs2151935061
|
|
NM_153717.3(EVC):c.499G>A (p.Gly167Ser)
|
|
|
NM_153717.3(EVC):c.589G>T (p.Ala197Ser)
|
rs115507440
|
|
NM_153717.3(EVC):c.645_647delinsG (p.Ser215fs)
|
|
|
NM_153717.3(EVC):c.65G>C (p.Arg22Pro)
|
rs2151767266
|
|
NM_153717.3(EVC):c.698A>G (p.His233Arg)
|
rs769431829
|
|
NM_153717.3(EVC):c.703-265C>T
|
rs149486305
|
|
NM_153717.3(EVC):c.703-4del
|
rs2152000379
|
|
NM_153717.3(EVC):c.770T>A (p.Leu257Gln)
|
rs750565190
|
|
NM_153717.3(EVC):c.801+93A>C
|
rs58903969
|
|
NM_153717.3(EVC):c.802-12_802-11del
|
rs372546602
|
|
NM_153717.3(EVC):c.802-15_802-9delinsT
|
rs1577406898
|
|
NM_153717.3(EVC):c.802-17TTC[3]
|
rs370315662
|
|
NM_153717.3(EVC):c.802-17TTC[4]
|
rs370315662
|
|
NM_153717.3(EVC):c.802-220del
|
rs112283154
|
|
NM_153717.3(EVC):c.802-221_802-220del
|
rs112283154
|
|
NM_153717.3(EVC):c.802-224_802-220dup
|
rs112283154
|
|
NM_153717.3(EVC):c.802-225_802-220dup
|
rs112283154
|
|
NM_153717.3(EVC):c.82C>A (p.Leu28Met)
|
rs1723001259
|
|
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del)
|
rs755381180
|
|
NM_153717.3(EVC):c.933C>T (p.Ile311=)
|
rs759718572
|
|
NM_153717.3(EVC):c.939+40del
|
rs3214258
|
|
NM_153717.3(EVC):c.940-59_940-55dup
|
rs58769270
|
|