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.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.7009+167A>C
|
rs369366486
|
0.02035
|
NM_020964.3(EPG5):c.5870-57C>T
|
rs145742289
|
0.02023
|
NM_020964.3(EPG5):c.7442+192T>C
|
rs117393635
|
0.01869
|
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.*270G>A
|
rs114523378
|
0.01688
|
NM_020964.3(EPG5):c.7226+95A>T
|
rs9961926
|
0.01686
|
NM_020964.3(EPG5):c.1497+67G>A
|
rs28395299
|
0.01678
|
NM_020964.3(EPG5):c.6225+174C>T
|
rs9948555
|
0.01657
|
NM_020964.3(EPG5):c.7442+93G>A
|
rs28605020
|
0.01489
|
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.6049+244C>G
|
rs141432738
|
0.01277
|
NM_020964.3(EPG5):c.1766A>G (p.Gln589Arg)
|
rs61734402
|
0.01093
|
NM_020964.3(EPG5):c.*164T>G
|
rs187738851
|
0.01075
|
NM_020964.3(EPG5):c.5870-272G>A
|
rs7228878
|
0.00961
|
NM_020964.3(EPG5):c.6516C>T (p.Tyr2172=)
|
rs114665741
|
0.00940
|
NM_020964.3(EPG5):c.1793-298C>T
|
rs11876831
|
0.00933
|
NM_020964.3(EPG5):c.4810-229G>A
|
rs72918326
|
0.00896
|
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.7443-14C>T
|
rs150647938
|
0.00509
|
NM_020964.3(EPG5):c.2911T>G (p.Leu971Val)
|
rs148777356
|
0.00488
|
NM_020964.3(EPG5):c.7558-132C>T
|
rs146977012
|
0.00426
|
NM_020964.3(EPG5):c.3984-135A>G
|
rs141858923
|
0.00412
|
NM_020964.3(EPG5):c.4205+134T>C
|
rs76515809
|
0.00410
|
NM_020964.3(EPG5):c.3694-151G>A
|
rs140981196
|
0.00406
|
NM_020964.3(EPG5):c.4039A>C (p.Asn1347His)
|
rs144860976
|
0.00405
|
NM_020964.3(EPG5):c.3385-110A>G
|
rs139491623
|
0.00401
|
NM_020964.3(EPG5):c.5583C>T (p.Cys1861=)
|
rs200372908
|
0.00399
|
NM_020964.3(EPG5):c.6411+24A>G
|
rs114204173
|
0.00351
|
NM_020964.3(EPG5):c.1497+191A>G
|
rs75341729
|
0.00316
|
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.740C>T (p.Pro247Leu)
|
rs140494095
|
0.00247
|
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val)
|
rs144334723
|
0.00245
|
NM_020964.3(EPG5):c.3965G>A (p.Arg1322His)
|
rs148641800
|
0.00232
|
NM_020964.3(EPG5):c.7495A>G (p.Met2499Val)
|
rs191244915
|
0.00173
|
NM_020964.3(EPG5):c.2257+44T>C
|
rs78696159
|
0.00143
|
NM_020964.3(EPG5):c.5229C>T (p.Phe1743=)
|
rs76331338
|
0.00133
|
NM_020964.3(EPG5):c.800C>T (p.Ser267Leu)
|
rs180913079
|
0.00113
|
NM_020964.3(EPG5):c.3079A>G (p.Met1027Val)
|
rs200114829
|
0.00103
|
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr)
|
rs201067154
|
0.00088
|
NM_020964.3(EPG5):c.299C>T (p.Thr100Ile)
|
rs200530606
|
0.00067
|
NM_020964.3(EPG5):c.5052G>A (p.Thr1684=)
|
rs199648768
|
0.00065
|
NM_020964.3(EPG5):c.4134A>G (p.Glu1378=)
|
rs200489622
|
0.00062
|
NM_020964.3(EPG5):c.7165T>G (p.Leu2389Val)
|
rs199602966
|
0.00053
|
NM_020964.3(EPG5):c.1435C>T (p.Leu479Phe)
|
rs200364337
|
0.00051
|
NM_020964.3(EPG5):c.4791C>T (p.Ala1597=)
|
rs368086133
|
0.00041
|
NM_020964.3(EPG5):c.4544C>T (p.Thr1515Met)
|
rs199811412
|
0.00038
|
NM_020964.3(EPG5):c.3313C>T (p.His1105Tyr)
|
rs200305944
|
0.00037
|
NM_020964.3(EPG5):c.2718+3A>G
|
rs374002995
|
0.00032
|
NM_020964.3(EPG5):c.6403G>A (p.Asp2135Asn)
|
rs202038268
|
0.00030
|
NM_020964.3(EPG5):c.1539G>T (p.Met513Ile)
|
rs369120436
|
0.00022
|
NM_020964.3(EPG5):c.2983G>A (p.Val995Ile)
|
rs377499566
|
0.00022
|
NM_020964.3(EPG5):c.6871A>G (p.Ser2291Gly)
|
rs372382701
|
0.00022
|
NM_020964.3(EPG5):c.2881G>A (p.Glu961Lys)
|
rs200744548
|
0.00018
|
NM_020964.3(EPG5):c.151C>G (p.Leu51Val)
|
rs188069373
|
0.00014
|
NM_020964.3(EPG5):c.6792G>T (p.Met2264Ile)
|
rs547681142
|
0.00013
|
NM_020964.3(EPG5):c.708G>A (p.Leu236=)
|
rs182077104
|
0.00012
|
NM_020964.3(EPG5):c.6037G>A (p.Glu2013Lys)
|
rs374158728
|
0.00010
|
NM_020964.3(EPG5):c.2964T>C (p.Cys988=)
|
rs202213194
|
0.00007
|
NM_020964.3(EPG5):c.6512A>G (p.His2171Arg)
|
rs369070714
|
0.00006
|
NM_020964.3(EPG5):c.1857A>T (p.Ser619=)
|
rs543352996
|
0.00005
|
NM_020964.3(EPG5):c.263T>G (p.Leu88Ter)
|
rs183478189
|
0.00005
|
NM_020964.3(EPG5):c.3303A>C (p.Gln1101His)
|
rs201545867
|
0.00005
|
NM_020964.3(EPG5):c.1531C>G (p.His511Asp)
|
rs762634619
|
0.00004
|
NM_020964.3(EPG5):c.340G>A (p.Gly114Arg)
|
rs375017695
|
0.00004
|
NM_020964.3(EPG5):c.4444G>A (p.Val1482Met)
|
rs746749336
|
0.00004
|
NM_020964.3(EPG5):c.5057G>A (p.Arg1686His)
|
rs375463159
|
0.00004
|
NM_020964.3(EPG5):c.6825G>A (p.Met2275Ile)
|
rs768330083
|
0.00004
|
NM_020964.3(EPG5):c.150T>G (p.Ser50=)
|
rs368060363
|
0.00003
|
NM_020964.3(EPG5):c.1707C>G (p.Leu569=)
|
rs1445665065
|
0.00003
|
NM_020964.3(EPG5):c.2716C>T (p.Gln906Ter)
|
rs756503608
|
0.00003
|
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg)
|
rs201757275
|
0.00002
|
NM_020964.3(EPG5):c.3158A>G (p.His1053Arg)
|
rs758172811
|
0.00002
|
NM_020964.3(EPG5):c.1418C>T (p.Pro473Leu)
|
rs189145719
|
0.00001
|
NM_020964.3(EPG5):c.2239T>C (p.Cys747Arg)
|
rs1443228798
|
0.00001
|
NM_020964.3(EPG5):c.2772T>C (p.Leu924=)
|
rs891935086
|
0.00001
|
NM_020964.3(EPG5):c.3044C>T (p.Ala1015Val)
|
rs1135402736
|
0.00001
|
NM_020964.3(EPG5):c.3167C>T (p.Thr1056Ile)
|
rs144908324
|
0.00001
|
NM_020964.3(EPG5):c.3991A>G (p.Ile1331Val)
|
rs775284965
|
0.00001
|
NM_020964.3(EPG5):c.4646+2T>C
|
rs1064795606
|
0.00001
|
NM_020964.3(EPG5):c.4663G>A (p.Glu1555Lys)
|
rs780030419
|
0.00001
|
NM_020964.3(EPG5):c.5869+1G>A
|
rs748670315
|
0.00001
|
NM_020964.3(EPG5):c.6253T>C (p.Phe2085Leu)
|
rs769470632
|
0.00001
|
NM_020964.3(EPG5):c.7243G>A (p.Ala2415Thr)
|
rs1274877697
|
0.00001
|
NM_020964.3(EPG5):c.*163GT[11]
|
rs112643058
|
|
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.*166T>G
|
|
|
NM_020964.3(EPG5):c.1009-313C>T
|
rs141711267
|
|
NM_020964.3(EPG5):c.1152T>C (p.Tyr384=)
|
|
|
NM_020964.3(EPG5):c.1217T>C (p.Val406Ala)
|
rs2143745556
|
|
NM_020964.3(EPG5):c.1442del (p.Asn481fs)
|
|
|
NM_020964.3(EPG5):c.1497+1G>T
|
rs886043244
|
|
NM_020964.3(EPG5):c.1664_1666del (p.Glu555del)
|
rs1568179586
|
|
NM_020964.3(EPG5):c.1726G>T (p.Val576Phe)
|
|
|
NM_020964.3(EPG5):c.1792+73C>T
|
rs1005225312
|
|
NM_020964.3(EPG5):c.1944-52G>A
|
rs79875128
|
|
NM_020964.3(EPG5):c.1961T>G (p.Val654Gly)
|
|
|
NM_020964.3(EPG5):c.2162G>A (p.Trp721Ter)
|
rs1568168835
|
|
NM_020964.3(EPG5):c.2258-878C>T
|
|
|
NM_020964.3(EPG5):c.2413-3T>G
|
|
|
NM_020964.3(EPG5):c.2690A>G (p.Glu897Gly)
|
rs2145782456
|
|
NM_020964.3(EPG5):c.2844A>T (p.Ser948=)
|
|
|
NM_020964.3(EPG5):c.291G>C (p.Thr97=)
|
|
|
NM_020964.3(EPG5):c.291G>T (p.Thr97=)
|
rs376360251
|
|
NM_020964.3(EPG5):c.3056T>C (p.Ile1019Thr)
|
|
|
NM_020964.3(EPG5):c.3099-215=
|
rs34399624
|
|
NM_020964.3(EPG5):c.3130C>A (p.Leu1044Ile)
|
|
|
NM_020964.3(EPG5):c.315A>T (p.Glu105Asp)
|
|
|
NM_020964.3(EPG5):c.31_33delinsACG (p.Ala11Thr)
|
rs1555683798
|
|
NM_020964.3(EPG5):c.3200del (p.Leu1067fs)
|
|
|
NM_020964.3(EPG5):c.3239+5G>A
|
rs2145724330
|
|
NM_020964.3(EPG5):c.3240-283G>A
|
rs9966480
|
|
NM_020964.3(EPG5):c.3342C>G (p.Ala1114=)
|
rs1599565896
|
|
NM_020964.3(EPG5):c.3384+45del
|
rs145864065
|
|
NM_020964.3(EPG5):c.3406C>T (p.Gln1136Ter)
|
|
|
NM_020964.3(EPG5):c.3556C>G (p.Gln1186Glu)
|
|
|
NM_020964.3(EPG5):c.3607C>T (p.Arg1203Trp)
|
rs764221778
|
|
NM_020964.3(EPG5):c.3694-310G>A
|
rs9959239
|
|
NM_020964.3(EPG5):c.3917C>T (p.Pro1306Leu)
|
|
|
NM_020964.3(EPG5):c.3919C>T (p.Leu1307Phe)
|
rs765327583
|
|
NM_020964.3(EPG5):c.3937C>T (p.Gln1313Ter)
|
rs986592823
|
|
NM_020964.3(EPG5):c.3983+130_3983+133del
|
rs67738770
|
|
NM_020964.3(EPG5):c.3984-334AGAT[7]
|
rs537576512
|
|
NM_020964.3(EPG5):c.3994G>A (p.Asp1332Asn)
|
|
|
NM_020964.3(EPG5):c.3999T>C (p.Gly1333=)
|
rs769635657
|
|
NM_020964.3(EPG5):c.4072G>A (p.Glu1358Lys)
|
rs775481546
|
|
NM_020964.3(EPG5):c.4195G>T (p.Glu1399Ter)
|
rs1568145102
|
|
NM_020964.3(EPG5):c.4243A>T (p.Asn1415Tyr)
|
rs767091703
|
|
NM_020964.3(EPG5):c.4329+19dup
|
rs542412749
|
|
NM_020964.3(EPG5):c.4329+36_4329+37del
|
rs542412749
|
|
NM_020964.3(EPG5):c.4329+37del
|
rs542412749
|
|
NM_020964.3(EPG5):c.4474+34_4474+37dup
|
rs146498284
|
|
NM_020964.3(EPG5):c.4501C>T (p.Arg1501Trp)
|
rs370776793
|
|
NM_020964.3(EPG5):c.4527C>T (p.Pro1509=)
|
|
|
NM_020964.3(EPG5):c.4582T>C (p.Leu1528=)
|
rs1599529261
|
|
NM_020964.3(EPG5):c.4735C>T (p.Gln1579Ter)
|
|
|
NM_020964.3(EPG5):c.4740del (p.Thr1581fs)
|
rs1555671254
|
|
NM_020964.3(EPG5):c.4775A>G (p.Lys1592Arg)
|
rs2145575638
|
|
NM_020964.3(EPG5):c.4853A>G (p.His1618Arg)
|
|
|
NM_020964.3(EPG5):c.4953-201A>G
|
rs116136727
|
|
NM_020964.3(EPG5):c.4956del (p.Ala1652_Leu1653insTer)
|
rs1555668791
|
|
NM_020964.3(EPG5):c.5351_5354del (p.Asp1784fs)
|
|
|
NM_020964.3(EPG5):c.5375_5378dup (p.Leu1794fs)
|
rs1555667231
|
|
NM_020964.3(EPG5):c.5584G>A (p.Ala1862Thr)
|
rs34977955
|
|
NM_020964.3(EPG5):c.5584G>T (p.Ala1862Ser)
|
rs34977955
|
|
NM_020964.3(EPG5):c.5713C>T (p.Arg1905Trp)
|
rs759013844
|
|
NM_020964.3(EPG5):c.5943-9_5943-5del
|
rs773330060
|
|
NM_020964.3(EPG5):c.6011T>C (p.Phe2004Ser)
|
rs2145364498
|
|
NM_020964.3(EPG5):c.6020_6021del (p.Cys2007fs)
|
rs1064795230
|
|
NM_020964.3(EPG5):c.6050-47del
|
rs11334955
|
|
NM_020964.3(EPG5):c.6050-48_6050-47del
|
rs11334955
|
|
NM_020964.3(EPG5):c.6050-63_6050-61dup
|
rs11334955
|
|
NM_020964.3(EPG5):c.6050-63_6050-62dup
|
rs11334955
|
|
NM_020964.3(EPG5):c.6050-63dup
|
rs11334955
|
|
NM_020964.3(EPG5):c.6088C>T (p.His2030Tyr)
|
|
|
NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp)
|
rs116076204
|
|
NM_020964.3(EPG5):c.6187C>G (p.Leu2063Val)
|
|
|
NM_020964.3(EPG5):c.63+189C>G
|
rs116758961
|
|
NM_020964.3(EPG5):c.6608_6609insTCAG (p.Lys2205fs)
|
rs1568103027
|
|
NM_020964.3(EPG5):c.6621+1G>A
|
rs2048757326
|
|
NM_020964.3(EPG5):c.6622-23_6622-12dup
|
rs11333207
|
|
NM_020964.3(EPG5):c.6622-23_6622-13dup
|
rs11333207
|
|
NM_020964.3(EPG5):c.6622-23_6622-18dup
|
rs11333207
|
|
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.6767-255_6767-252del
|
rs140704324
|
|
NM_020964.3(EPG5):c.7009+169_7009+170del
|
rs201868961
|
|
NM_020964.3(EPG5):c.7010-100dup
|
rs139942774
|
|
NM_020964.3(EPG5):c.7304dup (p.Asn2435fs)
|
rs1568094308
|
|
NM_020964.3(EPG5):c.7427C>T (p.Ser2476Leu)
|
|
|
NM_020964.3(EPG5):c.7442+7A>C
|
rs1599424279
|
|
NM_020964.3(EPG5):c.748C>G (p.Leu250Val)
|
rs1472761578
|
|
NM_020964.3(EPG5):c.772G>T (p.Glu258Ter)
|
rs1555681647
|
|
NM_020964.3(EPG5):c.7736G>A (p.Arg2579Gln)
|
rs763628666
|
|