NM_147127.5(EVC2):c.3272+83A>G
|
rs6840591
|
0.97488
|
NM_147127.5(EVC2):c.520-250T>G
|
rs10937662
|
0.93354
|
NM_147127.5(EVC2):c.450+292G>C
|
rs6810418
|
0.93272
|
NM_147127.5(EVC2):c.520-129G>A
|
rs10937661
|
0.93181
|
NM_147127.5(EVC2):c.3659+237A>G
|
rs4234707
|
0.92768
|
NM_147127.5(EVC2):c.1006-288T>G
|
rs4689274
|
0.78514
|
NM_147127.5(EVC2):c.1145+178T>A
|
rs13125075
|
0.72776
|
NM_147127.5(EVC2):c.871-185G>A
|
rs4298088
|
0.63696
|
NM_147127.5(EVC2):c.707-57T>C
|
rs998092
|
0.62867
|
NM_147127.5(EVC2):c.816+173C>T
|
rs957727
|
0.62830
|
NM_147127.5(EVC2):c.816+130G>A
|
rs957726
|
0.62826
|
NM_147127.5(EVC2):c.3360+272A>G
|
rs7670299
|
0.47038
|
NM_147127.5(EVC2):c.1710+284T>C
|
rs1013601
|
0.46292
|
NM_147127.5(EVC2):c.1710+315C>T
|
rs1013600
|
0.46283
|
NM_147127.5(EVC2):c.1471-236G>A
|
rs7674131
|
0.46211
|
NM_147127.5(EVC2):c.1146-191A>G
|
rs4577515
|
0.42315
|
NM_147127.5(EVC2):c.870+247A>T
|
rs6836026
|
0.37896
|
NM_147127.5(EVC2):c.2829+203C>G
|
rs4560347
|
0.37725
|
NM_147127.5(EVC2):c.2707-24A>G
|
rs10025164
|
0.37451
|
NM_147127.5(EVC2):c.2707-98C>A
|
rs10032860
|
0.37407
|
NC_000004.12:g.5709607G>A
|
rs9790440
|
0.35696
|
NM_147127.5(EVC2):c.451-299G>A
|
rs28531831
|
0.34874
|
NM_147127.5(EVC2):c.1006-228C>T
|
rs4689273
|
0.34453
|
NM_147127.2(EVC2):c.-104T>C
|
rs2013183
|
0.33784
|
NC_000004.12:g.5709641G>A
|
rs3774854
|
0.32501
|
NM_147127.5(EVC2):c.871-295A>G
|
rs4524330
|
0.32115
|
NM_147127.5(EVC2):c.3272+220G>A
|
rs62297462
|
0.28941
|
NM_147127.5(EVC2):c.706+300G>A
|
rs67064159
|
0.28939
|
NM_147127.5(EVC2):c.3557+67A>G
|
rs12508361
|
0.28659
|
NM_147127.5(EVC2):c.451-52G>A
|
rs35705473
|
0.26495
|
NM_147127.5(EVC2):c.283+223C>T
|
rs13126806
|
0.24405
|
NM_147127.5(EVC2):c.284-155A>G
|
rs11936402
|
0.24206
|
NM_147127.5(EVC2):c.870+176C>T
|
rs10937658
|
0.21550
|
NM_147127.5(EVC2):c.2047-182A>G
|
rs35325839
|
0.19643
|
NM_147127.5(EVC2):c.2502-240G>A
|
rs57126574
|
0.17780
|
NM_147127.5(EVC2):c.707-75G>A
|
rs960055
|
0.17003
|
NM_147127.5(EVC2):c.707-51C>T
|
rs13129960
|
0.15254
|
NM_147127.5(EVC2):c.1006-330T>G
|
rs17687543
|
0.15004
|
NM_147127.5(EVC2):c.229-250G>C
|
rs12503011
|
0.14040
|
NM_147127.5(EVC2):c.2706+265T>C
|
rs28546301
|
0.13072
|
NM_147127.5(EVC2):c.2502-204C>T
|
rs57824419
|
0.13024
|
NM_147127.5(EVC2):c.2706+266G>A
|
rs28489765
|
0.13015
|
NM_147127.5(EVC2):c.2502-106G>A
|
rs28379106
|
0.12966
|
NM_147127.5(EVC2):c.1006-109del
|
rs113939285
|
0.11697
|
NM_147127.5(EVC2):c.1886+162C>T
|
rs79426828
|
0.10758
|
NM_147127.5(EVC2):c.2501+41G>A
|
rs60896170
|
0.10412
|
NM_147127.5(EVC2):c.3360+142C>G
|
rs16837475
|
0.08488
|
NM_147127.5(EVC2):c.1886+29G>A
|
rs57185424
|
0.08380
|
NM_147127.5(EVC2):c.3361-172C>T
|
rs56739291
|
0.08259
|
NM_147127.5(EVC2):c.3660-111C>A
|
rs73794635
|
0.08026
|
NM_001166136.2(EVC2):c.-13+87A>G
|
rs3755840
|
0.06899
|
NM_147127.5(EVC2):c.1471-68C>T
|
rs76589199
|
0.06622
|
NM_147127.5(EVC2):c.3058-177C>T
|
rs112812794
|
0.05249
|
NM_147127.5(EVC2):c.3253C>T (p.Leu1085=)
|
rs112554914
|
0.05240
|
NM_147127.5(EVC2):c.284-36C>T
|
rs16837573
|
0.04382
|
NM_147127.5(EVC2):c.1006-54C>T
|
rs73798106
|
0.04256
|
NM_147127.5(EVC2):c.1145+195T>A
|
rs77003809
|
0.04105
|
NM_147127.5(EVC2):c.2707-147C>G
|
rs80101274
|
0.04083
|
NM_147127.5(EVC2):c.2707-137C>T
|
rs74366739
|
0.04077
|
NM_147127.5(EVC2):c.1710+236G>C
|
rs115944729
|
0.03720
|
NM_147127.5(EVC2):c.283+129A>G
|
rs7656937
|
0.03668
|
NM_147127.5(EVC2):c.2047-81T>C
|
rs73198155
|
0.03157
|
NM_147127.5(EVC2):c.450+31A>G
|
rs55801084
|
0.02796
|
NM_147127.5(EVC2):c.1059C>T (p.Gly353=)
|
rs77793386
|
0.02666
|
NM_147127.5(EVC2):c.284-98G>T
|
rs79024204
|
0.02637
|
NM_147127.5(EVC2):c.2501+154C>T
|
rs79974556
|
0.02367
|
NM_147127.5(EVC2):c.2501+276A>G
|
rs73198152
|
0.02203
|
NM_147127.5(EVC2):c.3557+10G>A
|
rs116218656
|
0.02138
|
NM_147127.5(EVC2):c.284-267C>T
|
rs73200126
|
0.02072
|
NM_147127.5(EVC2):c.1145+34_1145+35del
|
rs147183830
|
0.01929
|
NM_147127.5(EVC2):c.3660-18C>A
|
rs6853237
|
0.01859
|
NM_147127.5(EVC2):c.2830-198C>T
|
rs113847914
|
0.01850
|
NM_147127.5(EVC2):c.229-291T>G
|
rs144902778
|
0.01846
|
NM_147127.5(EVC2):c.2501+148A>G
|
rs73794678
|
0.01831
|
NM_147127.5(EVC2):c.2829+173G>A
|
rs73794666
|
0.01801
|
NM_147127.5(EVC2):c.519+192G>T
|
rs181679152
|
0.01781
|
NM_147127.5(EVC2):c.2046+147T>C
|
rs114349041
|
0.01543
|
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val)
|
rs75829835
|
0.01478
|
NM_147127.5(EVC2):c.3057+161C>T
|
rs76081066
|
0.01393
|
NM_147127.5(EVC2):c.1006-268C>T
|
rs73065629
|
0.01340
|
NM_147127.5(EVC2):c.2706+179T>C
|
rs115712574
|
0.01252
|
NM_147127.5(EVC2):c.2706+151C>T
|
rs116207883
|
0.01249
|
NM_147127.5(EVC2):c.3659+334C>T
|
rs140714919
|
0.01105
|
NM_147127.5(EVC2):c.1006-94G>C
|
rs76139256
|
0.01082
|
NM_147127.5(EVC2):c.3557+138dup
|
rs201389445
|
0.01005
|
NM_147127.5(EVC2):c.3557+255T>C
|
rs149416590
|
0.01005
|
NM_147127.5(EVC2):c.3557+184C>T
|
rs144778121
|
0.01000
|
NM_147127.5(EVC2):c.3361-89C>A
|
rs116392680
|
0.00965
|
NM_147127.5(EVC2):c.284-53A>G
|
rs77216974
|
0.00949
|
NM_147127.5(EVC2):c.284-35G>A
|
rs114046377
|
0.00945
|
NM_147127.5(EVC2):c.3361-196G>A
|
rs76595482
|
0.00928
|
NM_147127.5(EVC2):c.3360+221T>C
|
rs115084644
|
0.00926
|
NM_147127.5(EVC2):c.2046+212A>G
|
rs116726301
|
0.00921
|
NM_147127.5(EVC2):c.692A>G (p.Lys231Arg)
|
rs114024753
|
0.00863
|
NM_147127.5(EVC2):c.2047-221A>G
|
rs142248443
|
0.00854
|
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg)
|
rs73074138
|
0.00851
|
NM_147127.5(EVC2):c.229-162C>T
|
rs140170464
|
0.00790
|
NM_147127.5(EVC2):c.817-168C>T
|
rs80339770
|
0.00783
|
NM_147127.5(EVC2):c.706+173A>G
|
rs28483214
|
0.00759
|
NM_147127.5(EVC2):c.2706+268G>A
|
rs183231166
|
0.00668
|
NM_147127.5(EVC2):c.229-151A>C
|
rs112470838
|
0.00655
|
NM_147127.5(EVC2):c.2707-5T>C
|
rs186058156
|
0.00650
|
NM_147127.5(EVC2):c.2830-260A>G
|
rs115587647
|
0.00593
|
NM_147127.5(EVC2):c.3660-224T>C
|
rs78749463
|
0.00577
|
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr)
|
rs113869406
|
0.00570
|
NM_147127.5(EVC2):c.1886+68C>T
|
rs114678224
|
0.00565
|
NM_147127.5(EVC2):c.3557+296C>T
|
rs116824914
|
0.00565
|
NM_147127.5(EVC2):c.814C>T (p.Arg272Trp)
|
rs114142742
|
0.00521
|
NM_147127.5(EVC2):c.2706+64A>G
|
rs146043610
|
0.00515
|
NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp)
|
rs116502852
|
0.00513
|
NM_147127.5(EVC2):c.1845C>T (p.Thr615=)
|
rs112747818
|
0.00512
|
NM_147127.5(EVC2):c.1471-44G>A
|
rs111826210
|
0.00485
|
NM_147127.5(EVC2):c.675A>G (p.Gly225=)
|
rs74930168
|
0.00463
|
NM_147127.5(EVC2):c.2830-128G>A
|
rs80165535
|
0.00449
|
NM_147127.5(EVC2):c.707-45C>T
|
rs116453365
|
0.00433
|
NM_147127.5(EVC2):c.307T>C (p.Leu103=)
|
rs140877783
|
0.00416
|
NM_147127.5(EVC2):c.1711-230C>G
|
rs140803712
|
0.00400
|
NM_147127.5(EVC2):c.3561A>G (p.Lys1187=)
|
rs76523157
|
0.00388
|
NM_147127.5(EVC2):c.2047-9A>T
|
rs73198154
|
0.00366
|
NM_147127.5(EVC2):c.2601C>T (p.Ala867=)
|
rs116514447
|
0.00357
|
NM_147127.5(EVC2):c.707-4G>A
|
rs113806963
|
0.00357
|
NM_147127.5(EVC2):c.2029C>A (p.Arg677=)
|
rs73198165
|
0.00341
|
NM_147127.5(EVC2):c.2707-276G>A
|
rs182662440
|
0.00323
|
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val)
|
rs140951974
|
0.00320
|
NM_147127.5(EVC2):c.864C>T (p.Asn288=)
|
rs144730069
|
0.00320
|
NM_147127.5(EVC2):c.1471-7T>C
|
rs150842594
|
0.00319
|
NM_147127.5(EVC2):c.1954A>G (p.Ile652Val)
|
rs144670544
|
0.00294
|
NM_147127.5(EVC2):c.*90C>T
|
rs115810595
|
0.00287
|
NM_147127.5(EVC2):c.3659+8T>C
|
rs200119306
|
0.00270
|
NM_147127.5(EVC2):c.2151C>T (p.His717=)
|
rs144584049
|
0.00220
|
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro)
|
rs143388379
|
0.00212
|
NM_147127.5(EVC2):c.18C>T (p.Ser6=)
|
rs556910528
|
0.00207
|
NM_147127.5(EVC2):c.2883A>C (p.Gly961=)
|
rs149188988
|
0.00205
|
NM_147127.5(EVC2):c.817-43C>G
|
rs77250194
|
0.00170
|
NM_147127.5(EVC2):c.2487G>A (p.Glu829=)
|
rs16837501
|
0.00165
|
NM_147127.5(EVC2):c.2394G>A (p.Arg798=)
|
rs147173201
|
0.00149
|
NM_147127.5(EVC2):c.2395G>C (p.Asp799His)
|
rs143491078
|
0.00149
|
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=)
|
rs144532809
|
0.00146
|
NM_147127.5(EVC2):c.1823G>A (p.Arg608His)
|
rs145693546
|
0.00129
|
NM_147127.5(EVC2):c.2707-13A>T
|
rs146588799
|
0.00105
|
NM_147127.5(EVC2):c.2244C>T (p.Thr748=)
|
rs146588335
|
0.00090
|
NM_147127.5(EVC2):c.3272+7C>T
|
rs201048030
|
0.00090
|
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile)
|
rs138728350
|
0.00083
|
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser)
|
rs150367317
|
0.00083
|
NM_147127.5(EVC2):c.2060G>A (p.Arg687His)
|
rs144420242
|
0.00054
|
NM_147127.5(EVC2):c.2178G>A (p.Glu726=)
|
rs147015327
|
0.00051
|
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu)
|
rs145425340
|
0.00046
|
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=)
|
rs201460514
|
0.00042
|
NM_147127.5(EVC2):c.2591G>A (p.Arg864Lys)
|
rs369531662
|
0.00035
|
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys)
|
rs186197620
|
0.00034
|
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys)
|
rs572056540
|
0.00034
|
NM_147127.5(EVC2):c.2304G>C (p.Val768=)
|
rs139936564
|
0.00030
|
NM_147127.5(EVC2):c.3702A>G (p.Ile1234Met)
|
rs375566943
|
0.00022
|
NM_147127.5(EVC2):c.2958C>T (p.Thr986=)
|
rs567792423
|
0.00019
|
NM_147127.5(EVC2):c.-17G>C
|
rs1048547708
|
0.00018
|
NM_147127.5(EVC2):c.3858C>T (p.His1286=)
|
rs368103321
|
0.00011
|
NM_147127.5(EVC2):c.809C>T (p.Ser270Leu)
|
rs369153874
|
0.00011
|
NM_147127.5(EVC2):c.1009T>A (p.Trp337Arg)
|
rs201555920
|
0.00010
|
NM_147127.5(EVC2):c.2340C>T (p.His780=)
|
rs150691722
|
0.00010
|
NM_147127.5(EVC2):c.129C>T (p.Gly43=)
|
rs985034372
|
0.00009
|
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile)
|
rs199824658
|
0.00009
|
NM_147127.5(EVC2):c.3519C>T (p.Ser1173=)
|
rs749446584
|
0.00009
|
NM_147127.5(EVC2):c.765C>T (p.Asn255=)
|
rs139129327
|
0.00009
|
NM_147127.5(EVC2):c.520-6C>T
|
rs747479747
|
0.00008
|
NM_147127.5(EVC2):c.530C>T (p.Ser177Leu)
|
rs145758016
|
0.00008
|
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn)
|
rs180747811
|
0.00007
|
NM_147127.5(EVC2):c.1478T>C (p.Val493Ala)
|
rs202210260
|
0.00006
|
NM_147127.5(EVC2):c.2079C>T (p.Val693=)
|
rs201171209
|
0.00006
|
NM_147127.5(EVC2):c.878C>T (p.Pro293Leu)
|
rs138882677
|
0.00006
|
NM_147127.5(EVC2):c.887G>C (p.Gly296Ala)
|
rs201083070
|
0.00006
|
NM_147127.5(EVC2):c.126C>T (p.Leu42=)
|
rs781009014
|
0.00005
|
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)
|
rs769864196
|
0.00005
|
NM_147127.5(EVC2):c.2076C>T (p.Ser692=)
|
rs138556477
|
0.00005
|
NM_147127.5(EVC2):c.2157C>T (p.Ala719=)
|
rs777141609
|
0.00005
|
NM_147127.5(EVC2):c.2556G>A (p.Arg852=)
|
rs762781823
|
0.00005
|
NM_147127.5(EVC2):c.3094C>T (p.Leu1032=)
|
rs777897646
|
0.00005
|
NM_147127.5(EVC2):c.446G>A (p.Arg149His)
|
rs202198132
|
0.00005
|
NM_147127.5(EVC2):c.707-20_707-19del
|
rs777343377
|
0.00005
|
NM_147127.5(EVC2):c.2517A>G (p.Ser839=)
|
rs756424912
|
0.00004
|
NM_147127.5(EVC2):c.707T>C (p.Val236Ala)
|
rs764307512
|
0.00004
|
NM_147127.5(EVC2):c.221G>A (p.Ser74Asn)
|
rs1191013607
|
0.00003
|
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter)
|
rs965707319
|
0.00003
|
NM_147127.5(EVC2):c.3659+2T>C
|
rs200300612
|
0.00003
|
NM_147127.5(EVC2):c.3732G>A (p.Leu1244=)
|
rs774269538
|
0.00003
|
NM_147127.5(EVC2):c.550C>T (p.Arg184Cys)
|
rs773218631
|
0.00003
|
NM_147127.5(EVC2):c.885C>T (p.His295=)
|
rs752378780
|
0.00003
|
NM_147127.5(EVC2):c.902G>C (p.Gly301Ala)
|
rs142952894
|
0.00003
|
NM_147127.5(EVC2):c.1499G>A (p.Arg500Gln)
|
rs770644264
|
0.00002
|
NM_147127.5(EVC2):c.1567G>T (p.Ala523Ser)
|
rs200622704
|
0.00002
|
NM_147127.5(EVC2):c.2180G>A (p.Arg727His)
|
rs140363692
|
0.00002
|
NM_147127.5(EVC2):c.2350A>G (p.Met784Val)
|
rs202191109
|
0.00002
|
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter)
|
rs760382778
|
0.00002
|
NM_147127.5(EVC2):c.3134C>T (p.Ala1045Val)
|
rs750108569
|
0.00002
|
NM_147127.5(EVC2):c.3660del (p.Ser1220fs)
|
rs753581033
|
0.00002
|
NM_147127.5(EVC2):c.3859G>A (p.Val1287Ile)
|
rs771435248
|
0.00002
|
NM_147127.5(EVC2):c.705A>G (p.Gln235=)
|
rs768647764
|
0.00002
|
NM_147127.5(EVC2):c.109C>T (p.Pro37Ser)
|
rs769781725
|
0.00001
|
NM_147127.5(EVC2):c.1658A>G (p.Glu553Gly)
|
rs766349604
|
0.00001
|
NM_147127.5(EVC2):c.1732G>A (p.Asp578Asn)
|
rs757316188
|
0.00001
|
NM_147127.5(EVC2):c.1931G>A (p.Arg644Gln)
|
rs773470850
|
0.00001
|
NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter)
|
rs781623802
|
0.00001
|
NM_147127.5(EVC2):c.2152G>A (p.Gly718Ser)
|
rs762306367
|
0.00001
|
NM_147127.5(EVC2):c.2254C>T (p.Arg752Trp)
|
rs532778814
|
0.00001
|
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter)
|
rs751356206
|
0.00001
|
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter)
|
rs548681312
|
0.00001
|
NM_147127.5(EVC2):c.2677G>A (p.Asp893Asn)
|
rs1553830511
|
0.00001
|
NM_147127.5(EVC2):c.2758C>T (p.Leu920Phe)
|
rs762404021
|
0.00001
|
NM_147127.5(EVC2):c.2791C>T (p.Leu931Phe)
|
rs749339159
|
0.00001
|
NM_147127.5(EVC2):c.3020A>C (p.Lys1007Thr)
|
rs727503920
|
0.00001
|
NM_147127.5(EVC2):c.3361-2del
|
rs757914735
|
0.00001
|
NM_147127.5(EVC2):c.3570C>G (p.Ser1190Arg)
|
rs763892029
|
0.00001
|
GRCh37/hg19 4p16.2(chr4:5636439-5710337)x1
|
|
|
GRCh37/hg19 4p16.2(chr4:5656731-5693774)x3
|
|
|
NM_001166136.2(EVC2):c.-13+167C>T
|
rs6821316
|
|
NM_147127.5(EVC2):c.1099A>C (p.Ile367Leu)
|
|
|
NM_147127.5(EVC2):c.1106C>G (p.Ser369Cys)
|
rs2108895919
|
|
NM_147127.5(EVC2):c.1146-241A>T
|
rs114025234
|
|
NM_147127.5(EVC2):c.139C>T (p.Pro47Ser)
|
rs376923652
|
|
NM_147127.5(EVC2):c.1710+104A>C
|
rs76624078
|
|
NM_147127.5(EVC2):c.1710+217_1710+218dup
|
rs71227270
|
|
NM_147127.5(EVC2):c.1710+217dup
|
rs71227270
|
|
NM_147127.5(EVC2):c.1710+224C>A
|
rs112417127
|
|
NM_147127.5(EVC2):c.1710+224C>G
|
rs112417127
|
|
NM_147127.5(EVC2):c.1710+224_1710+225insCA
|
rs199666307
|
|
NM_147127.5(EVC2):c.1710+225del
|
rs71227270
|
|
NM_147127.5(EVC2):c.1711-10del
|
rs35103377
|
|
NM_147127.5(EVC2):c.1711-11_1711-10dup
|
rs35103377
|
|
NM_147127.5(EVC2):c.1711-12_1711-10dup
|
rs35103377
|
|
NM_147127.5(EVC2):c.1711-19T>G
|
rs1716317519
|
|
NM_147127.5(EVC2):c.1711-20dup
|
rs35103377
|
|
NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter)
|
rs73198165
|
|
NM_147127.5(EVC2):c.2059C>T (p.Arg687Cys)
|
|
|
NM_147127.5(EVC2):c.2137C>G (p.Leu713Val)
|
rs143662104
|
|
NM_147127.5(EVC2):c.2258G>A (p.Arg753His)
|
|
|
NM_147127.5(EVC2):c.229-100del
|
rs748171113
|
|
NM_147127.5(EVC2):c.229-114dup
|
rs748171113
|
|
NM_147127.5(EVC2):c.229-251T>G
|
rs190518332
|
|
NM_147127.5(EVC2):c.2301G>A (p.Gly767=)
|
rs374178504
|
|
NM_147127.5(EVC2):c.2394_2395delinsAC (p.Asp799His)
|
rs1577169974
|
|
NM_147127.5(EVC2):c.2483G>A (p.Trp828Ter)
|
rs1715768907
|
|
NM_147127.5(EVC2):c.2652G>A (p.Trp884Ter)
|
rs981099037
|
|
NM_147127.5(EVC2):c.2829+29del
|
rs373232667
|
|
NM_147127.5(EVC2):c.2830-174G>A
|
rs116241937
|
|
NM_147127.5(EVC2):c.2830-65_2830-62del
|
rs113324162
|
|
NM_147127.5(EVC2):c.2869G>C (p.Glu957Gln)
|
rs1560140198
|
|
NM_147127.5(EVC2):c.3091C>T (p.Gln1031Ter)
|
rs370438593
|
|
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter)
|
rs886037764
|
|
NM_147127.5(EVC2):c.3166G>A (p.Gly1056Arg)
|
|
|
NM_147127.5(EVC2):c.3272+8G>A
|
rs201800139
|
|
NM_147127.5(EVC2):c.3358C>T (p.Gln1120Ter)
|
rs951561591
|
|
NM_147127.5(EVC2):c.3360+177A>G
|
rs77671911
|
|
NM_147127.5(EVC2):c.3361-145A>T
|
rs76244489
|
|
NM_147127.5(EVC2):c.3374dup (p.Ser1126fs)
|
|
|
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs)
|
rs750396637
|
|
NM_147127.5(EVC2):c.3419G>A (p.Arg1140His)
|
rs779684008
|
|
NM_147127.5(EVC2):c.3480T>G (p.Asp1160Glu)
|
rs2108770792
|
|
NM_147127.5(EVC2):c.3488C>T (p.Thr1163Ile)
|
|
|
NM_147127.5(EVC2):c.3505_3507delinsTAT (p.His1169Tyr)
|
rs2108770735
|
|
NM_147127.5(EVC2):c.3544G>T (p.Val1182Leu)
|
rs144511301
|
|
NM_147127.5(EVC2):c.3557+201_3557+202dup
|
rs34681984
|
|
NM_147127.5(EVC2):c.3557+211del
|
rs34681984
|
|
NM_147127.5(EVC2):c.3558-314del
|
rs949664571
|
|
NM_147127.5(EVC2):c.3558-330dup
|
rs949664571
|
|
NM_147127.5(EVC2):c.3558G>A (p.Arg1186=)
|
|
|
NM_147127.5(EVC2):c.3610A>T (p.Ile1204Leu)
|
|
|
NM_147127.5(EVC2):c.3703T>C (p.Phe1235Leu)
|
rs794727367
|
|
NM_147127.5(EVC2):c.3718A>C (p.Ser1240Arg)
|
rs1399603571
|
|
NM_147127.5(EVC2):c.3779del (p.Ala1260fs)
|
rs1577093203
|
|
NM_147127.5(EVC2):c.3863C>T (p.Pro1288Leu)
|
|
|
NM_147127.5(EVC2):c.3876GAA[1] (p.Lys1293del)
|
rs752839237
|
|
NM_147127.5(EVC2):c.3877A>T (p.Lys1293Ter)
|
|
|
NM_147127.5(EVC2):c.419_424del (p.Phe140_Arg142delinsTer)
|
rs1560233040
|
|
NM_147127.5(EVC2):c.450+81G>C
|
rs143715705
|
|
NM_147127.5(EVC2):c.451-16_451-15del
|
rs377541465
|
|
NM_147127.5(EVC2):c.499_500del (p.Ile167fs)
|
rs1560230203
|
|
NM_147127.5(EVC2):c.568A>G (p.Asn190Asp)
|
|
|
NM_147127.5(EVC2):c.706+219_706+222del
|
rs376083261
|
|
NM_147127.5(EVC2):c.706+273A>C
|
rs113294715
|
|
NM_147127.5(EVC2):c.707-273G>A
|
rs141287944
|
|
NM_147127.5(EVC2):c.710del (p.Gly237fs)
|
rs1560223934
|
|
NM_147127.5(EVC2):c.850del (p.Thr284fs)
|
rs886044525
|
|
NM_147127.5(EVC2):c.864dup (p.Val289fs)
|
rs1553849875
|
|
NM_147127.5(EVC2):c.871-257C>T
|
rs78601416
|
|
NM_147127.5(EVC2):c.874C>G (p.Leu292Val)
|
rs772759691
|
|
NM_147127.5(EVC2):c.876_892dup (p.His298fs)
|
rs2108900159
|
|