NM_020964.3(EPG5):c.2718+146G>C
|
rs4476262
|
0.83272
|
NM_020964.3(EPG5):c.4475-238G>A
|
rs1893524
|
0.83137
|
NM_020964.3(EPG5):c.5870-172G>A
|
rs7228722
|
0.79711
|
NM_020964.3(EPG5):c.7443-86T>G
|
rs514001
|
0.79647
|
NM_020964.3(EPG5):c.6621+29A>G
|
rs3826633
|
0.79509
|
NM_020964.3(EPG5):c.6412-250G>A
|
rs12961975
|
0.79475
|
NM_020964.3(EPG5):c.7227-123G>A
|
rs567801
|
0.77840
|
NM_020964.3(EPG5):c.4952+184C>G
|
rs11082494
|
0.62471
|
NM_020964.3(EPG5):c.3173T>C (p.Val1058Ala)
|
rs3744998
|
0.46686
|
NM_020964.3(EPG5):c.3098+117C>A
|
rs1075906
|
0.46222
|
NM_020964.3(EPG5):c.2839-162A>G
|
rs11082498
|
0.36577
|
NM_020964.3(EPG5):c.1793-35C>T
|
rs3745000
|
0.30094
|
NM_020964.3(EPG5):c.2099+125T>C
|
rs8098175
|
0.29697
|
NM_020964.3(EPG5):c.*140G>A
|
rs507653
|
0.29103
|
NM_020964.3(EPG5):c.4532C>T (p.Ala1511Val)
|
rs1893523
|
0.25513
|
NM_020964.3(EPG5):c.3693+212A>T
|
rs60006789
|
0.25487
|
NM_020964.3(EPG5):c.63+18C>T
|
rs555802868
|
0.25000
|
NM_020964.3(EPG5):c.4646+35T>C
|
rs3826634
|
0.21003
|
NM_020964.3(EPG5):c.4646+190G>T
|
rs12604880
|
0.20861
|
NM_020964.3(EPG5):c.4089C>T (p.His1363=)
|
rs3744996
|
0.20554
|
NM_020964.3(EPG5):c.2553+35C>T
|
rs9965433
|
0.19161
|
NM_020964.3(EPG5):c.3099-311G>A
|
rs1371976
|
0.17125
|
NM_020964.3(EPG5):c.2413-70T>C
|
rs73953914
|
0.15787
|
NM_020964.3(EPG5):c.2553+228T>C
|
rs73953913
|
0.15095
|
NM_020964.3(EPG5):c.3240-216C>T
|
rs62095409
|
0.14418
|
NM_020964.3(EPG5):c.*74T>G
|
rs508915
|
0.14387
|
NM_020964.3(EPG5):c.6049+126G>A
|
rs9950550
|
0.14178
|
NM_020964.3(EPG5):c.6766+238G>A
|
rs12456289
|
0.13163
|
NM_020964.3(EPG5):c.6622-92C>G
|
rs8099496
|
0.13157
|
NM_020964.3(EPG5):c.6225+181A>G
|
rs7233909
|
0.13090
|
NM_020964.3(EPG5):c.1008+317A>G
|
rs58246199
|
0.12029
|
NM_020964.3(EPG5):c.544A>G (p.Lys182Glu)
|
rs59422275
|
0.11994
|
NM_020964.3(EPG5):c.64-213A>G
|
rs57659207
|
0.11979
|
NM_020964.3(EPG5):c.64-323C>T
|
rs74498242
|
0.11690
|
NM_020964.3(EPG5):c.5668-184A>G
|
rs9949693
|
0.10672
|
NM_020964.3(EPG5):c.1678-60G>T
|
rs75005183
|
0.10666
|
NM_020964.3(EPG5):c.7558-11G>A
|
rs57761448
|
0.10601
|
NM_020964.3(EPG5):c.1793-209A>C
|
rs72918369
|
0.10256
|
NM_020964.3(EPG5):c.1944-104G>A
|
rs72918362
|
0.10243
|
NM_020964.3(EPG5):c.1678-213T>C
|
rs72918371
|
0.10087
|
NM_020964.3(EPG5):c.1793-294T>C
|
rs61363974
|
0.09798
|
NM_020964.3(EPG5):c.3693+60C>A
|
rs7237763
|
0.09500
|
NM_020964.3(EPG5):c.1792+273A>T
|
rs142457576
|
0.09413
|
NM_020964.3(EPG5):c.1571+220T>C
|
rs72918376
|
0.09367
|
NM_020964.3(EPG5):c.6766+322C>T
|
rs78383925
|
0.06178
|
NM_020964.3(EPG5):c.5668-302G>C
|
rs144932096
|
0.05924
|
NM_020964.3(EPG5):c.5591G>A (p.Ser1864Asn)
|
rs34064739
|
0.05283
|
NM_020964.3(EPG5):c.2532G>C (p.Glu844Asp)
|
rs3744999
|
0.04674
|
NM_020964.3(EPG5):c.7227-128C>G
|
rs34455748
|
0.04589
|
NM_020964.3(EPG5):c.4330-209A>G
|
rs72918344
|
0.04365
|
NM_020964.3(EPG5):c.4329+197G>A
|
rs7242434
|
0.04114
|
NM_020964.3(EPG5):c.4205+74A>G
|
rs79523804
|
0.04027
|
NM_020964.3(EPG5):c.5110-249G>A
|
rs115533345
|
0.04026
|
NM_020964.3(EPG5):c.5109+232C>G
|
rs28698347
|
0.04014
|
NM_020964.3(EPG5):c.2413-264G>A
|
rs28438661
|
0.03765
|
NM_020964.3(EPG5):c.1572-38A>G
|
rs8090934
|
0.03463
|
NM_020964.3(EPG5):c.4329+300T>C
|
rs7242125
|
0.03459
|
NM_020964.3(EPG5):c.4646+140T>G
|
rs75052800
|
0.03455
|
NM_020964.3(EPG5):c.4329+254A>G
|
rs7243454
|
0.03454
|
NM_020964.3(EPG5):c.3694-321T>C
|
rs9959151
|
0.03453
|
NM_020964.3(EPG5):c.2553+237C>T
|
rs9965236
|
0.03313
|
NM_020964.3(EPG5):c.3099-272C>T
|
rs11873365
|
0.03307
|
NM_020964.3(EPG5):c.5943-246A>G
|
rs73953905
|
0.02584
|
NM_020964.3(EPG5):c.7558-205C>T
|
rs56671562
|
0.02560
|
NM_020964.3(EPG5):c.3248C>T (p.Ser1083Leu)
|
rs78339727
|
0.02107
|
NM_020964.3(EPG5):c.2839-301A>G
|
rs73953912
|
0.02046
|
NM_020964.3(EPG5):c.3385-20C>T
|
rs6507647
|
0.02046
|
NM_020964.3(EPG5):c.6621+257A>G
|
rs9947795
|
0.01864
|
NM_020964.3(EPG5):c.5943-204T>G
|
rs7236728
|
0.01773
|
NM_020964.3(EPG5):c.2553+47T>G
|
rs114439881
|
0.01741
|
NM_020964.3(EPG5):c.1497+67G>A
|
rs28395299
|
0.01678
|
NM_020964.3(EPG5):c.7557+15T>C
|
rs59817706
|
0.01339
|
NM_020964.3(EPG5):c.5954G>A (p.Arg1985Gln)
|
rs34674177
|
0.01298
|
NM_020964.3(EPG5):c.1766A>G (p.Gln589Arg)
|
rs61734402
|
0.01093
|
NM_020964.3(EPG5):c.6516C>T (p.Tyr2172=)
|
rs114665741
|
0.00940
|
NM_020964.3(EPG5):c.3279C>T (p.Ser1093=)
|
rs72918350
|
0.00844
|
NM_020964.3(EPG5):c.4206-26C>T
|
rs144175319
|
0.00831
|
NM_020964.3(EPG5):c.6522G>A (p.Pro2174=)
|
rs148683476
|
0.00708
|
NM_020964.3(EPG5):c.1399C>T (p.Leu467=)
|
rs145998030
|
0.00707
|
NM_020964.3(EPG5):c.104G>A (p.Ser35Asn)
|
rs145177562
|
0.00565
|
NM_020964.3(EPG5):c.3493A>G (p.Ile1165Val)
|
rs61744077
|
0.00541
|
NM_020964.3(EPG5):c.7443-14C>T
|
rs150647938
|
0.00509
|
NM_020964.3(EPG5):c.2911T>G (p.Leu971Val)
|
rs148777356
|
0.00488
|
NM_020964.3(EPG5):c.4039A>C (p.Asn1347His)
|
rs144860976
|
0.00405
|
NM_020964.3(EPG5):c.5583C>T (p.Cys1861=)
|
rs200372908
|
0.00399
|
NM_020964.3(EPG5):c.3436T>C (p.Leu1146=)
|
rs9965714
|
0.00369
|
NM_020964.3(EPG5):c.18G>A (p.Lys6=)
|
rs181345590
|
0.00354
|
NM_020964.3(EPG5):c.5653T>C (p.Leu1885=)
|
rs114131140
|
0.00323
|
NM_020964.3(EPG5):c.5700T>C (p.Phe1900=)
|
rs34545102
|
0.00308
|
NM_020964.3(EPG5):c.2063T>C (p.Phe688Ser)
|
rs61978576
|
0.00295
|
NM_020964.3(EPG5):c.2257+10C>T
|
rs202068698
|
0.00282
|
NM_020964.3(EPG5):c.740C>T (p.Pro247Leu)
|
rs140494095
|
0.00247
|
NM_020964.3(EPG5):c.4629G>A (p.Leu1543=)
|
rs182255496
|
0.00238
|
NM_020964.3(EPG5):c.3965G>A (p.Arg1322His)
|
rs148641800
|
0.00232
|
NM_020964.3(EPG5):c.2259C>T (p.Asp753=)
|
rs142253896
|
0.00200
|
NM_020964.3(EPG5):c.1571+7G>A
|
rs202014798
|
0.00178
|
NM_020964.3(EPG5):c.7495A>G (p.Met2499Val)
|
rs191244915
|
0.00173
|
NM_020964.3(EPG5):c.780A>G (p.Leu260=)
|
rs186213665
|
0.00156
|
NM_020964.3(EPG5):c.4541C>T (p.Pro1514Leu)
|
rs139209033
|
0.00133
|
NM_020964.3(EPG5):c.5229C>T (p.Phe1743=)
|
rs76331338
|
0.00133
|
NM_020964.3(EPG5):c.6226-18T>G
|
rs114958790
|
0.00119
|
NM_020964.3(EPG5):c.800C>T (p.Ser267Leu)
|
rs180913079
|
0.00113
|
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr)
|
rs201067154
|
0.00088
|
NM_020964.3(EPG5):c.5070A>G (p.Thr1690=)
|
rs35073566
|
0.00088
|
NM_020964.3(EPG5):c.5869+18C>T
|
rs202231195
|
0.00077
|
NM_020964.3(EPG5):c.4134A>G (p.Glu1378=)
|
rs200489622
|
0.00062
|
NM_020964.3(EPG5):c.6162G>A (p.Thr2054=)
|
rs368651243
|
0.00051
|
NM_020964.3(EPG5):c.5616C>T (p.Thr1872=)
|
rs141282194
|
0.00048
|
NM_020964.3(EPG5):c.3391A>G (p.Ile1131Val)
|
rs3744997
|
0.00043
|
NM_020964.3(EPG5):c.586G>A (p.Gly196Ser)
|
rs565743896
|
0.00035
|
NM_020964.3(EPG5):c.3984-20C>G
|
rs143737072
|
0.00031
|
NM_020964.3(EPG5):c.1461C>T (p.Pro487=)
|
rs142675465
|
0.00029
|
NM_020964.3(EPG5):c.5618A>T (p.Glu1873Val)
|
rs148241618
|
0.00028
|
NM_020964.3(EPG5):c.6078C>A (p.Ala2026=)
|
rs368663653
|
0.00020
|
NM_020964.3(EPG5):c.7009+20C>T
|
rs367613516
|
0.00019
|
NM_020964.3(EPG5):c.5308G>A (p.Asp1770Asn)
|
rs554975133
|
0.00015
|
NM_020964.3(EPG5):c.7368C>T (p.Leu2456=)
|
rs148229334
|
0.00015
|
NM_020964.3(EPG5):c.6161C>T (p.Thr2054Met)
|
rs200926094
|
0.00012
|
NM_020964.3(EPG5):c.1009-10_1009-9dup
|
rs148293118
|
0.00011
|
NM_020964.3(EPG5):c.2374G>A (p.Glu792Lys)
|
rs188738484
|
0.00009
|
NM_020964.3(EPG5):c.2233G>A (p.Ala745Thr)
|
rs564487069
|
0.00005
|
NM_020964.3(EPG5):c.6939C>T (p.Cys2313=)
|
rs774873040
|
0.00004
|
NM_020964.3(EPG5):c.3582+12G>C
|
rs554695413
|
0.00001
|
NM_020964.3(EPG5):c.4584G>C (p.Leu1528Phe)
|
rs199978382
|
0.00001
|
NM_001410858.1(EPG5):c.7577T>C (p.Phe2526Ser)
|
|
|
NM_020964.3(EPG5):c.*163GT[13]
|
rs112643058
|
|
NM_020964.3(EPG5):c.*163GT[14]
|
rs112643058
|
|
NM_020964.3(EPG5):c.*163GT[15]
|
rs112643058
|
|
NM_020964.3(EPG5):c.1498-17del
|
rs2050838482
|
|
NM_020964.3(EPG5):c.1944-16C>T
|
rs575676819
|
|
NM_020964.3(EPG5):c.2245C>G (p.Gln749Glu)
|
|
|
NM_020964.3(EPG5):c.2413-15del
|
rs1197236398
|
|
NM_020964.3(EPG5):c.2413-7del
|
|
|
NM_020964.3(EPG5):c.2413-7dup
|
|
|
NM_020964.3(EPG5):c.3099-215=
|
rs34399624
|
|
NM_020964.3(EPG5):c.3240-283G>A
|
rs9966480
|
|
NM_020964.3(EPG5):c.33C>G (p.Ala11=)
|
rs539082493
|
|
NM_020964.3(EPG5):c.3551G>A (p.Cys1184Tyr)
|
|
|
NM_020964.3(EPG5):c.3694-310G>A
|
rs9959239
|
|
NM_020964.3(EPG5):c.3817-5del
|
|
|
NM_020964.3(EPG5):c.3983+130_3983+133del
|
rs67738770
|
|
NM_020964.3(EPG5):c.3984-334AGAT[7]
|
rs537576512
|
|
NM_020964.3(EPG5):c.3984-9dup
|
rs1448453433
|
|
NM_020964.3(EPG5):c.4329+36_4329+37del
|
rs542412749
|
|
NM_020964.3(EPG5):c.4329+37del
|
rs542412749
|
|
NM_020964.3(EPG5):c.4646+20C>T
|
rs191567436
|
|
NM_020964.3(EPG5):c.5544C>T (p.Pro1848=)
|
rs578073131
|
|
NM_020964.3(EPG5):c.5584G>A (p.Ala1862Thr)
|
rs34977955
|
|
NM_020964.3(EPG5):c.6050-47del
|
rs11334955
|
|
NM_020964.3(EPG5):c.6050-48_6050-47del
|
rs11334955
|
|
NM_020964.3(EPG5):c.6050-63dup
|
rs11334955
|
|
NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp)
|
rs116076204
|
|
NM_020964.3(EPG5):c.6226-8dup
|
|
|
NM_020964.3(EPG5):c.63+14C>A
|
rs757703100
|
|
NM_020964.3(EPG5):c.63+15del
|
rs11301517
|
|
NM_020964.3(EPG5):c.6622-23dup
|
rs11333207
|
|
NM_020964.3(EPG5):c.6622-7del
|
rs11333207
|
|
NM_020964.3(EPG5):c.6622-8_6622-7del
|
rs11333207
|
|
NM_020964.3(EPG5):c.6622-9_6622-7del
|
rs11333207
|
|
NM_020964.3(EPG5):c.6767-255_6767-252del
|
rs140704324
|
|
NM_020964.3(EPG5):c.7010-100dup
|
rs139942774
|
|