NM_001429.4(EP300):c.2380-154G>C
|
rs4479527
|
0.99998
|
NM_001429.4(EP300):c.4452+293C>T
|
rs79540
|
0.99682
|
NM_001429.4(EP300):c.2053+8G>T
|
rs6002267
|
0.96326
|
NM_001429.4(EP300):c.95-97G>T
|
rs2144342
|
0.60050
|
NM_001429.4(EP300):c.3143-45C>T
|
rs4822011
|
0.60005
|
NM_001429.4(EP300):c.3183T>A (p.Thr1061=)
|
rs20552
|
0.59984
|
NM_001429.4(EP300):c.4452+248A>G
|
rs9607779
|
0.58813
|
NM_001429.4(EP300):c.4779+283T>C
|
rs2076581
|
0.58074
|
NM_001429.4(EP300):c.4453-23T>C
|
rs2076577
|
0.51146
|
NM_001429.4(EP300):c.1168+185A>G
|
rs738632
|
0.51017
|
NM_001429.4(EP300):c.4452+153C>T
|
rs12160751
|
0.27288
|
NM_001429.4(EP300):c.4173-222A>G
|
rs5751058
|
0.26292
|
NM_001429.4(EP300):c.4618-18C>T
|
rs2076578
|
0.25729
|
NM_001429.4(EP300):c.4779+99G>A
|
rs2076580
|
0.25634
|
NM_001429.4(EP300):c.3875-166T>C
|
rs2057070
|
0.24494
|
NM_001429.4(EP300):c.4286+207A>G
|
rs9611509
|
0.24422
|
NM_001429.4(EP300):c.730-311G>A
|
rs8137709
|
0.07396
|
NM_001429.4(EP300):c.3671+251dup
|
rs35715259
|
0.07371
|
NM_001429.4(EP300):c.2379+113T>A
|
rs5758247
|
0.07076
|
NM_001429.4(EP300):c.2241+217C>T
|
rs35023864
|
0.07015
|
NM_001429.4(EP300):c.4026-17C>A
|
rs2294976
|
0.07014
|
NM_001429.4(EP300):c.2380-142G>A
|
rs117597170
|
0.05022
|
NM_001429.4(EP300):c.906+99A>G
|
rs12167662
|
0.04940
|
NM_001429.4(EP300):c.2380-15T>C
|
rs17002316
|
0.04125
|
NM_001429.4(EP300):c.95-16T>C
|
rs5758235
|
0.04095
|
NM_001429.4(EP300):c.2242-83G>A
|
rs2273227
|
0.04078
|
NM_001429.4(EP300):c.2132-120G>A
|
rs147996339
|
0.04076
|
NM_001429.4(EP300):c.1168+18G>A
|
rs3818120
|
0.04073
|
NM_001429.4(EP300):c.2241+33C>G
|
rs17002314
|
0.04066
|
NM_001429.4(EP300):c.3590+186C>T
|
rs79458245
|
0.04055
|
NM_001429.4(EP300):c.3348G>A (p.Gln1116=)
|
rs20554
|
0.04022
|
NM_001429.4(EP300):c.4453-318G>A
|
rs75278256
|
0.03521
|
NM_001429.4(EP300):c.3729-94C>T
|
rs118065748
|
0.03296
|
NM_001429.4(EP300):c.1528+66T>C
|
rs12170811
|
0.03033
|
NM_001429.4(EP300):c.730-113C>G
|
rs9619941
|
0.03028
|
NM_001429.4(EP300):c.1623-302T>C
|
rs7285761
|
0.02564
|
NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro)
|
rs1046088
|
0.02418
|
NM_001429.4(EP300):c.2131+18T>A
|
rs9611506
|
0.02398
|
NM_001429.4(EP300):c.5061+9C>T
|
rs73176628
|
0.02054
|
NM_001429.4(EP300):c.1282+240C>A
|
rs75829147
|
0.01962
|
NM_001429.4(EP300):c.906+187A>G
|
rs78496424
|
0.01918
|
NM_001429.4(EP300):c.1283-8T>C
|
rs76827562
|
0.01914
|
NM_001429.4(EP300):c.1879-150A>G
|
rs12330117
|
0.01913
|
NM_001429.4(EP300):c.942C>T (p.Gly314=)
|
rs20553
|
0.01913
|
NM_001429.4(EP300):c.2817+174T>G
|
rs9623334
|
0.01911
|
NM_001429.4(EP300):c.3501+270T>C
|
rs730811
|
0.01910
|
NM_001429.4(EP300):c.1878+59T>C
|
rs9619943
|
0.01908
|
NM_001429.4(EP300):c.2053+42A>G
|
rs116108629
|
0.01904
|
NM_001429.4(EP300):c.3672-196T>C
|
rs9623340
|
0.01903
|
NM_001429.4(EP300):c.2132-256A>T
|
rs144442908
|
0.01899
|
NM_001429.4(EP300):c.3728+212T>G
|
rs7291735
|
0.01887
|
NM_001429.4(EP300):c.3261+172G>A
|
rs114579442
|
0.01880
|
NM_001429.4(EP300):c.*137C>T
|
rs113567138
|
0.01879
|
NM_001429.4(EP300):c.3672-291A>G
|
rs7285973
|
0.01872
|
NM_001429.4(EP300):c.2379+114A>T
|
rs112074017
|
0.01716
|
NM_001429.4(EP300):c.2499G>A (p.Ser833=)
|
rs35560602
|
0.01700
|
NM_001429.4(EP300):c.6372C>T (p.Val2124=)
|
rs34985152
|
0.01700
|
NM_001429.4(EP300):c.5062-113dup
|
rs200218093
|
0.01628
|
NM_001429.4(EP300):c.4286+33T>C
|
rs12169381
|
0.01619
|
NM_001429.4(EP300):c.3426C>T (p.Cys1142=)
|
rs76268515
|
0.01549
|
NM_001429.4(EP300):c.4453-191T>C
|
rs78617850
|
0.01452
|
NM_001429.4(EP300):c.2131+17A>T
|
rs113214815
|
0.01318
|
NM_001429.4(EP300):c.95-202G>A
|
rs73426540
|
0.01318
|
NM_001429.4(EP300):c.4618-309A>G
|
rs74964740
|
0.01230
|
NM_001429.4(EP300):c.3728+55C>G
|
rs116241886
|
0.01224
|
NM_001429.4(EP300):c.3142+245A>G
|
rs35350688
|
0.01111
|
NM_001429.4(EP300):c.2019T>C (p.Pro673=)
|
rs2230110
|
0.01054
|
NM_001429.4(EP300):c.2241+283A>G
|
rs61502017
|
0.01053
|
NM_001429.4(EP300):c.1529-147A>G
|
rs17384028
|
0.01026
|
NM_001429.4(EP300):c.2817+182G>A
|
rs111972987
|
0.00933
|
NM_001429.4(EP300):c.3874+222dup
|
rs140512503
|
0.00908
|
NM_001429.4(EP300):c.4779+34G>A
|
rs2076579
|
0.00786
|
NM_001429.4(EP300):c.631G>A (p.Gly211Ser)
|
rs142030651
|
0.00646
|
NM_001429.4(EP300):c.3261+317C>T
|
rs5758248
|
0.00504
|
NM_001429.4(EP300):c.1761-70G>T
|
rs181036133
|
0.00433
|
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr)
|
rs148884710
|
0.00410
|
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg)
|
rs61756764
|
0.00379
|
NM_001429.4(EP300):c.3729-104T>C
|
rs191452616
|
0.00378
|
NM_001429.4(EP300):c.3591-50G>A
|
rs188363795
|
0.00347
|
NM_001429.4(EP300):c.4286+202A>G
|
rs574690253
|
0.00317
|
NM_001429.4(EP300):c.1623-20T>C
|
rs151092312
|
0.00288
|
NM_001429.4(EP300):c.2064A>G (p.Leu688=)
|
rs61756763
|
0.00282
|
NM_001429.4(EP300):c.5814G>A (p.Thr1938=)
|
rs112948044
|
0.00258
|
NM_001429.4(EP300):c.865A>G (p.Met289Val)
|
rs2230111
|
0.00258
|
NM_001429.4(EP300):c.5061+34C>G
|
rs77540024
|
0.00253
|
NM_001429.4(EP300):c.6636G>A (p.Gln2212=)
|
rs142673005
|
0.00225
|
NM_001429.4(EP300):c.4286+29T>C
|
rs566214668
|
0.00181
|
NM_001429.4(EP300):c.4780-41C>T
|
rs185116512
|
0.00177
|
NM_001429.4(EP300):c.5259C>T (p.Cys1753=)
|
rs148040990
|
0.00172
|
NM_001429.4(EP300):c.678C>G (p.Gly226=)
|
rs147244947
|
0.00158
|
NM_001429.4(EP300):c.4311A>C (p.Ala1437=)
|
rs150941761
|
0.00150
|
NM_001429.4(EP300):c.4173-39A>C
|
rs200251568
|
0.00146
|
NM_001429.4(EP300):c.6210G>A (p.Val2070=)
|
rs11912899
|
0.00142
|
NM_001429.4(EP300):c.1878+9C>G
|
rs186198699
|
0.00138
|
NM_001429.4(EP300):c.5061+10G>A
|
rs78432056
|
0.00135
|
NM_001429.4(EP300):c.5147G>C (p.Ser1716Thr)
|
rs147676363
|
0.00112
|
NM_001429.4(EP300):c.1686A>C (p.Pro562=)
|
rs144993798
|
0.00111
|
NM_001429.4(EP300):c.6390G>A (p.Met2130Ile)
|
rs147973806
|
0.00101
|
NM_001429.4(EP300):c.6969C>G (p.Pro2323=)
|
rs111489369
|
0.00100
|
NM_001429.4(EP300):c.4286+23T>C
|
rs142488264
|
0.00093
|
NM_001429.4(EP300):c.6675G>A (p.Gln2225=)
|
rs147880144
|
0.00092
|
NM_001429.4(EP300):c.4779+18A>G
|
rs146245982
|
0.00084
|
NM_001429.4(EP300):c.3143-9T>C
|
rs199773872
|
0.00083
|
NM_001429.4(EP300):c.2054-3T>C
|
rs375287913
|
0.00081
|
NM_001429.4(EP300):c.2656C>T (p.Pro886Ser)
|
rs148308496
|
0.00074
|
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr)
|
rs145714752
|
0.00072
|
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly)
|
rs146242251
|
0.00070
|
NM_001429.4(EP300):c.4599C>G (p.Thr1533=)
|
rs143885808
|
0.00068
|
NM_001429.4(EP300):c.5271C>T (p.Ser1757=)
|
rs138917060
|
0.00068
|
NM_001429.4(EP300):c.4618-51A>G
|
rs375936936
|
0.00056
|
NM_001429.4(EP300):c.316A>G (p.Ser106Gly)
|
rs150245975
|
0.00054
|
NM_001429.4(EP300):c.2380-36T>C
|
rs140011569
|
0.00051
|
NM_001429.4(EP300):c.5364C>T (p.Leu1788=)
|
rs143551315
|
0.00049
|
NM_001429.4(EP300):c.2568A>G (p.Ala856=)
|
rs145037345
|
0.00045
|
NM_001429.4(EP300):c.6417C>T (p.Gly2139=)
|
rs111315183
|
0.00045
|
NM_001429.4(EP300):c.5061+36C>T
|
rs376408346
|
0.00042
|
NM_001429.4(EP300):c.739A>G (p.Met247Val)
|
rs147583157
|
0.00041
|
NM_001429.4(EP300):c.4287-50T>G
|
rs201416577
|
0.00038
|
NM_001429.4(EP300):c.6951G>A (p.Arg2317=)
|
rs139551099
|
0.00035
|
NM_001429.4(EP300):c.2131+45G>A
|
rs191844376
|
0.00033
|
NM_001429.4(EP300):c.6481A>G (p.Met2161Val)
|
rs188035979
|
0.00029
|
NM_001429.4(EP300):c.2380-18T>C
|
rs189468196
|
0.00028
|
NM_001429.4(EP300):c.4724A>G (p.Asn1575Ser)
|
rs144547088
|
0.00026
|
NM_001429.4(EP300):c.5061+22G>A
|
rs200873471
|
0.00026
|
NM_001429.4(EP300):c.3501+43A>G
|
rs374709084
|
0.00025
|
NM_001429.4(EP300):c.5172C>A (p.Thr1724=)
|
rs142330184
|
0.00025
|
NM_001429.4(EP300):c.5808G>A (p.Ala1936=)
|
rs144798492
|
0.00024
|
NM_001429.4(EP300):c.2110C>T (p.Pro704Ser)
|
rs149858781
|
0.00022
|
NM_001429.4(EP300):c.1608C>A (p.Ala536=)
|
rs370568560
|
0.00020
|
NM_001429.4(EP300):c.324C>T (p.Ala108=)
|
rs138876937
|
0.00020
|
NM_001429.4(EP300):c.2240C>T (p.Pro747Leu)
|
rs193026103
|
0.00019
|
NM_001429.4(EP300):c.1104C>T (p.His368=)
|
rs78045947
|
0.00018
|
NM_001429.4(EP300):c.2242-8T>C
|
rs199931034
|
0.00018
|
NM_001429.4(EP300):c.4752A>G (p.Leu1584=)
|
rs146147293
|
0.00016
|
NM_001429.4(EP300):c.513G>A (p.Ala171=)
|
rs146041458
|
0.00016
|
NM_001429.4(EP300):c.6684G>A (p.Gln2228=)
|
rs148504625
|
0.00016
|
NM_001429.4(EP300):c.6917A>G (p.Gln2306Arg)
|
rs140300789
|
0.00016
|
NM_001429.4(EP300):c.7161T>C (p.Gly2387=)
|
rs143148170
|
0.00016
|
NM_001429.4(EP300):c.5565A>G (p.Pro1855=)
|
rs150532830
|
0.00015
|
NM_001429.4(EP300):c.5604G>A (p.Thr1868=)
|
rs200795114
|
0.00015
|
NM_001429.4(EP300):c.6289C>G (p.Pro2097Ala)
|
rs200189212
|
0.00015
|
NM_001429.4(EP300):c.730-44A>G
|
rs572868943
|
0.00015
|
NM_001429.4(EP300):c.1761-34A>T
|
rs568223812
|
0.00014
|
NM_001429.4(EP300):c.3537C>A (p.Gly1179=)
|
rs148939960
|
0.00014
|
NM_001429.4(EP300):c.5361C>T (p.Ala1787=)
|
rs200552141
|
0.00014
|
NM_001429.4(EP300):c.1782G>C (p.Thr594=)
|
rs17002307
|
0.00013
|
NM_001429.4(EP300):c.2351C>T (p.Pro784Leu)
|
rs201480900
|
0.00011
|
NM_001429.4(EP300):c.2352G>A (p.Pro784=)
|
rs140684440
|
0.00011
|
NM_001429.4(EP300):c.3502-13G>A
|
rs547213630
|
0.00011
|
NM_001429.4(EP300):c.376A>G (p.Met126Val)
|
rs200635644
|
0.00011
|
NM_001429.4(EP300):c.5461C>A (p.Arg1821=)
|
rs780579609
|
0.00011
|
NM_001429.4(EP300):c.2668A>C (p.Thr890Pro)
|
rs577396026
|
0.00010
|
NM_001429.4(EP300):c.1443G>A (p.Pro481=)
|
rs374768898
|
0.00009
|
NM_001429.4(EP300):c.1572G>A (p.Thr524=)
|
rs746398873
|
0.00009
|
NM_001429.4(EP300):c.3162A>G (p.Leu1054=)
|
rs139758629
|
0.00009
|
NM_001429.4(EP300):c.3591-6C>T
|
rs368437789
|
0.00009
|
NM_001429.4(EP300):c.4286+22C>T
|
rs770995695
|
0.00009
|
NM_001429.4(EP300):c.5061+50T>C
|
rs368191882
|
0.00009
|
NM_001429.4(EP300):c.5598G>A (p.Pro1866=)
|
rs560633624
|
0.00009
|
NM_001429.4(EP300):c.6315C>T (p.Gly2105=)
|
rs528866215
|
0.00009
|
NM_001429.4(EP300):c.6729C>T (p.Gly2243=)
|
rs765194008
|
0.00008
|
NM_001429.4(EP300):c.6934C>T (p.Pro2312Ser)
|
rs137935821
|
0.00008
|
NM_001429.4(EP300):c.5061+37C>T
|
rs377096214
|
0.00007
|
NM_001429.4(EP300):c.6406A>G (p.Met2136Val)
|
rs372874467
|
0.00007
|
NM_001429.4(EP300):c.6414G>A (p.Ala2138=)
|
rs374679651
|
0.00007
|
NM_001429.4(EP300):c.3377A>G (p.Asn1126Ser)
|
rs777847755
|
0.00006
|
NM_001429.4(EP300):c.5568G>A (p.Thr1856=)
|
rs202043101
|
0.00006
|
NM_001429.4(EP300):c.6912C>T (p.Ser2304=)
|
rs113329190
|
0.00006
|
NM_001429.4(EP300):c.4503G>A (p.Leu1501=)
|
rs368320273
|
0.00005
|
NM_001429.4(EP300):c.4624A>G (p.Lys1542Glu)
|
rs374162524
|
0.00005
|
NM_001429.4(EP300):c.2756G>A (p.Ser919Asn)
|
rs141403873
|
0.00004
|
NM_001429.4(EP300):c.3522A>G (p.Thr1174=)
|
rs756748826
|
0.00004
|
NM_001429.4(EP300):c.1168+5G>A
|
rs940896515
|
0.00003
|
NM_001429.4(EP300):c.1302C>T (p.Pro434=)
|
rs199901345
|
0.00003
|
NM_001429.4(EP300):c.2594C>T (p.Thr865Ile)
|
rs754168978
|
0.00003
|
NM_001429.4(EP300):c.4857C>T (p.Ile1619=)
|
rs1021520881
|
0.00003
|
NM_001429.4(EP300):c.545A>G (p.Asn182Ser)
|
rs201487387
|
0.00003
|
NM_001429.4(EP300):c.952C>G (p.Pro318Ala)
|
rs762647727
|
0.00003
|
NM_001429.4(EP300):c.1341A>G (p.Gln447=)
|
rs780940794
|
0.00002
|
NM_001429.4(EP300):c.1575G>A (p.Pro525=)
|
rs772455986
|
0.00002
|
NM_001429.4(EP300):c.1991T>C (p.Met664Thr)
|
rs547684073
|
0.00002
|
NM_001429.4(EP300):c.2252A>G (p.Tyr751Cys)
|
rs755815528
|
0.00002
|
NM_001429.4(EP300):c.2334A>G (p.Thr778=)
|
rs374281264
|
0.00002
|
NM_001429.4(EP300):c.2473C>T (p.Pro825Ser)
|
rs751515727
|
0.00002
|
NM_001429.4(EP300):c.2766G>A (p.Ala922=)
|
rs370810144
|
0.00002
|
NM_001429.4(EP300):c.4235C>T (p.Ala1412Val)
|
rs887226313
|
0.00002
|
NM_001429.4(EP300):c.5150A>G (p.Asn1717Ser)
|
rs779154669
|
0.00002
|
NM_001429.4(EP300):c.579C>T (p.Asn193=)
|
rs376004661
|
0.00002
|
NM_001429.4(EP300):c.907-10T>C
|
rs772628747
|
0.00002
|
NM_001429.4(EP300):c.*24G>A
|
rs575190212
|
0.00001
|
NM_001429.4(EP300):c.1081G>A (p.Val361Met)
|
rs1341704749
|
0.00001
|
NM_001429.4(EP300):c.1453C>A (p.Gln485Lys)
|
rs772407988
|
0.00001
|
NM_001429.4(EP300):c.169A>G (p.Asn57Asp)
|
rs1186074560
|
0.00001
|
NM_001429.4(EP300):c.2348C>T (p.Ala783Val)
|
rs755619355
|
0.00001
|
NM_001429.4(EP300):c.2609C>T (p.Pro870Leu)
|
rs540935486
|
0.00001
|
NM_001429.4(EP300):c.307G>A (p.Val103Ile)
|
rs1193355188
|
0.00001
|
NM_001429.4(EP300):c.3502-9C>A
|
rs752128445
|
0.00001
|
NM_001429.4(EP300):c.3842G>A (p.Arg1281Gln)
|
rs764929476
|
0.00001
|
NM_001429.4(EP300):c.451A>G (p.Thr151Ala)
|
rs780440242
|
0.00001
|
NM_001429.4(EP300):c.469C>A (p.Pro157Thr)
|
rs748538778
|
0.00001
|
NM_001429.4(EP300):c.495G>T (p.Met165Ile)
|
rs1343346566
|
0.00001
|
NM_001429.4(EP300):c.5092A>G (p.Thr1698Ala)
|
rs549834848
|
0.00001
|
NM_001429.4(EP300):c.5709C>T (p.Gly1903=)
|
rs200728751
|
0.00001
|
NM_001429.4(EP300):c.5869C>T (p.Pro1957Ser)
|
rs1301322622
|
0.00001
|
NM_001429.4(EP300):c.5926C>T (p.Pro1976Ser)
|
rs1427345303
|
0.00001
|
NM_001429.4(EP300):c.6179C>G (p.Ser2060Cys)
|
rs2059211839
|
0.00001
|
NM_001429.4(EP300):c.6243G>A (p.Leu2081=)
|
rs2059212331
|
0.00001
|
NM_001429.4(EP300):c.6281A>G (p.Asn2094Ser)
|
rs757490161
|
0.00001
|
NM_001429.4(EP300):c.6473T>C (p.Met2158Thr)
|
rs778354178
|
0.00001
|
NM_001429.4(EP300):c.6518A>C (p.Asn2173Thr)
|
rs1555912302
|
0.00001
|
NM_001429.4(EP300):c.7105C>A (p.Gln2369Lys)
|
rs1163407374
|
0.00001
|
NM_001429.4(EP300):c.715C>G (p.Pro239Ala)
|
rs764511770
|
0.00001
|
NM_001429.4(EP300):c.892G>A (p.Gly298Arg)
|
rs755143118
|
0.00001
|
NM_001429.3(EP300):c.3857A>G
|
rs1555910821
|
|
NM_001429.4(EP300):c.*10GTA[1]
|
rs35508493
|
|
NM_001429.4(EP300):c.*6C>T
|
rs544616799
|
|
NM_001429.4(EP300):c.*7C>T
|
|
|
NM_001429.4(EP300):c.1040A>G (p.His347Arg)
|
rs2145710261
|
|
NM_001429.4(EP300):c.104_107del (p.Ser35fs)
|
rs886037664
|
|
NM_001429.4(EP300):c.1053C>G (p.Cys351Trp)
|
rs1388226313
|
|
NM_001429.4(EP300):c.1057C>T (p.Arg353Cys)
|
rs2145710304
|
|
NM_001429.4(EP300):c.1226A>G (p.His409Arg)
|
|
|
NM_001429.4(EP300):c.124G>A (p.Asp42Asn)
|
|
|
NM_001429.4(EP300):c.1255A>G (p.Asn419Asp)
|
rs2058908118
|
|
NM_001429.4(EP300):c.1282+267del
|
rs11388493
|
|
NM_001429.4(EP300):c.1282+267dup
|
rs11388493
|
|
NM_001429.4(EP300):c.1283-16C>T
|
rs200548363
|
|
NM_001429.4(EP300):c.1370G>A (p.Ser457Asn)
|
rs2145715608
|
|
NM_001429.4(EP300):c.137A>T (p.Glu46Val)
|
rs2145696320
|
|
NM_001429.4(EP300):c.1517del (p.Met506fs)
|
rs1601607265
|
|
NM_001429.4(EP300):c.1532C>T (p.Ala511Val)
|
|
|
NM_001429.4(EP300):c.1595T>C (p.Met532Thr)
|
rs774952188
|
|
NM_001429.4(EP300):c.1622+146G>A
|
rs150563866
|
|
NM_001429.4(EP300):c.1622+4A>T
|
|
|
NM_001429.4(EP300):c.1699A>G (p.Ile567Val)
|
|
|
NM_001429.4(EP300):c.1727C>A (p.Thr576Asn)
|
rs201036817
|
|
NM_001429.4(EP300):c.175G>C (p.Gly59Arg)
|
rs1569090280
|
|
NM_001429.4(EP300):c.1876C>T (p.Arg626Ter)
|
|
|
NM_001429.4(EP300):c.1878+86A>T
|
rs9619944
|
|
NM_001429.4(EP300):c.1879-2del
|
|
|
NM_001429.4(EP300):c.1927G>A (p.Glu643Lys)
|
|
|
NM_001429.4(EP300):c.2064del (p.Pro689fs)
|
rs1601617065
|
|
NM_001429.4(EP300):c.2066C>G (p.Pro689Arg)
|
|
|
NM_001429.4(EP300):c.2102A>T (p.Gln701Leu)
|
|
|
NM_001429.4(EP300):c.2113C>G (p.Arg705Gly)
|
|
|
NM_001429.4(EP300):c.2132-328G>T
|
rs12167653
|
|
NM_001429.4(EP300):c.2132-87dup
|
rs766424236
|
|
NM_001429.4(EP300):c.2241+5G>A
|
|
|
NM_001429.4(EP300):c.2242-4del
|
rs747710183
|
|
NM_001429.4(EP300):c.2242-4dup
|
rs747710183
|
|
NM_001429.4(EP300):c.2249G>A (p.Gly750Asp)
|
rs1433543827
|
|
NM_001429.4(EP300):c.2249G>C (p.Gly750Ala)
|
|
|
NM_001429.4(EP300):c.2251_2257del (p.Tyr751fs)
|
rs1601618876
|
|
NM_001429.4(EP300):c.2260C>T (p.Arg754Cys)
|
rs2145735782
|
|
NM_001429.4(EP300):c.2325G>T (p.Met775Ile)
|
rs2145736030
|
|
NM_001429.4(EP300):c.2357G>T (p.Ser786Ile)
|
|
|
NM_001429.4(EP300):c.2379+154_2379+156del
|
rs67744457
|
|
NM_001429.4(EP300):c.2498C>T (p.Ser833Leu)
|
rs1803789601
|
|
NM_001429.4(EP300):c.256C>T (p.Arg86Ter)
|
rs1601598122
|
|
NM_001429.4(EP300):c.2689G>C (p.Val897Leu)
|
rs1375233087
|
|
NM_001429.4(EP300):c.2812A>G (p.Thr938Ala)
|
rs2145737964
|
|
NM_001429.4(EP300):c.301G>A (p.Gly101Ser)
|
rs762557708
|
|
NM_001429.4(EP300):c.3143-4dup
|
rs757931697
|
|
NM_001429.4(EP300):c.3152C>T (p.Pro1051Leu)
|
rs2145744549
|
|
NM_001429.4(EP300):c.3163C>T (p.Arg1055Ter)
|
rs886041830
|
|
NM_001429.4(EP300):c.319C>T (p.Gln107Ter)
|
rs1064797038
|
|
NM_001429.4(EP300):c.3205G>A (p.Asp1069Asn)
|
rs2145744796
|
|
NM_001429.4(EP300):c.3261+126del
|
rs878898787
|
|
NM_001429.4(EP300):c.3261+126dup
|
rs878898787
|
|
NM_001429.4(EP300):c.3261+209G>T
|
rs9653841
|
|
NM_001429.4(EP300):c.3262-247T>G
|
rs66776572
|
|
NM_001429.4(EP300):c.3285C>T (p.Ser1095=)
|
rs971045982
|
|
NM_001429.4(EP300):c.332G>A (p.Ser111Asn)
|
rs2145696782
|
|
NM_001429.4(EP300):c.3354C>T (p.Val1118=)
|
rs11704815
|
|
NM_001429.4(EP300):c.3398G>A (p.Arg1133Gln)
|
|
|
NM_001429.4(EP300):c.3412dup (p.Val1138fs)
|
rs1555910122
|
|
NM_001429.4(EP300):c.3472C>T (p.Gln1158Ter)
|
rs886041739
|
|
NM_001429.4(EP300):c.3502-1G>T
|
rs886041520
|
|
NM_001429.4(EP300):c.3576C>T (p.Tyr1192=)
|
rs1159368614
|
|
NM_001429.4(EP300):c.3591-189_3591-186del
|
rs372645654
|
|
NM_001429.4(EP300):c.3591-202dup
|
rs537593150
|
|
NM_001429.4(EP300):c.3591-212dup
|
rs35492332
|
|
NM_001429.4(EP300):c.3624C>A (p.Ile1208=)
|
rs143660871
|
|
NM_001429.4(EP300):c.3649G>A (p.Asp1217Asn)
|
rs1085307911
|
|
NM_001429.4(EP300):c.3659C>G (p.Ser1220Cys)
|
|
|
NM_001429.4(EP300):c.3740G>A (p.Cys1247Tyr)
|
rs2145756387
|
|
NM_001429.4(EP300):c.3841C>T (p.Arg1281Ter)
|
rs1555910814
|
|
NM_001429.4(EP300):c.3866C>T (p.Ser1289Phe)
|
rs1555910822
|
|
NM_001429.4(EP300):c.3899C>T (p.Thr1300Ile)
|
|
|
NM_001429.4(EP300):c.3934C>T (p.Arg1312Ter)
|
rs1555911075
|
|
NM_001429.4(EP300):c.3971G>A (p.Arg1324Lys)
|
rs1487546042
|
|
NM_001429.4(EP300):c.4016T>C (p.Met1339Thr)
|
rs1064795607
|
|
NM_001429.4(EP300):c.4103del (p.Gly1368fs)
|
rs1601633128
|
|
NM_001429.4(EP300):c.4118T>G (p.Phe1373Cys)
|
|
|
NM_001429.4(EP300):c.4152C>G (p.Asp1384Glu)
|
|
|
NM_001429.4(EP300):c.4172+5_4172+7delinsAT
|
rs2145763996
|
|
NM_001429.4(EP300):c.4177G>A (p.Val1393Ile)
|
|
|
NM_001429.4(EP300):c.4185A>G (p.Ile1395Met)
|
rs937597399
|
|
NM_001429.4(EP300):c.4188_4189insCCTATGTATATCTCCTATACATATCTCCTATCGAACA (p.Tyr1397fs)
|
rs1064794624
|
|
NM_001429.4(EP300):c.4190_4191dup (p.Leu1398fs)
|
rs1555911201
|
|
NM_001429.4(EP300):c.4307G>A (p.Trp1436Ter)
|
rs893031937
|
|
NM_001429.4(EP300):c.433C>G (p.Gln145Glu)
|
rs2145697001
|
|
NM_001429.4(EP300):c.4371_4376del (p.Ile1457_Lys1459delinsMet)
|
rs1555911316
|
|
NM_001429.4(EP300):c.4408A>G (p.Met1470Val)
|
|
|
NM_001429.4(EP300):c.4452+102_4452+108del
|
rs35506286
|
|
NM_001429.4(EP300):c.4452+105_4452+108del
|
rs35506286
|
|
NM_001429.4(EP300):c.4452+106_4452+108dup
|
rs35506286
|
|
NM_001429.4(EP300):c.4452+107_4452+108dup
|
rs35506286
|
|
NM_001429.4(EP300):c.4452+108del
|
rs35506286
|
|
NM_001429.4(EP300):c.4452+108dup
|
rs35506286
|
|
NM_001429.4(EP300):c.4452+282C>T
|
rs112994812
|
|
NM_001429.4(EP300):c.4453-10_4453-8delinsAAAC
|
rs2145769898
|
|
NM_001429.4(EP300):c.4487C>G (p.Thr1496Arg)
|
rs2145770052
|
|
NM_001429.4(EP300):c.4515G>A (p.Glu1505=)
|
|
|
NM_001429.4(EP300):c.4580G>T (p.Arg1527Ile)
|
|
|
NM_001429.4(EP300):c.4601G>A (p.Ser1534Asn)
|
|
|
NM_001429.4(EP300):c.4618-11C>T
|
rs1601636833
|
|
NM_001429.4(EP300):c.4656T>G (p.Asn1552Lys)
|
|
|
NM_001429.4(EP300):c.4687C>T (p.Leu1563=)
|
rs564848230
|
|
NM_001429.4(EP300):c.4711C>T (p.Pro1571Ser)
|
|
|
NM_001429.4(EP300):c.4763T>C (p.Met1588Thr)
|
rs1057521737
|
|
NM_001429.4(EP300):c.4779+98C>A
|
rs149548576
|
|
NM_001429.4(EP300):c.4780-11_4780-8del
|
rs748277415
|
|
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val)
|
rs1057517732
|
|
NM_001429.4(EP300):c.4844C>G (p.Pro1615Arg)
|
|
|
NM_001429.4(EP300):c.4979C>T (p.Thr1660Met)
|
rs2145513499
|
|
NM_001429.4(EP300):c.4999G>C (p.Val1667Leu)
|
rs2059201116
|
|
NM_001429.4(EP300):c.5074T>C (p.Cys1692Arg)
|
rs1555912107
|
|
NM_001429.4(EP300):c.5074T>G (p.Cys1692Gly)
|
rs1555912107
|
|
NM_001429.4(EP300):c.5087A>C (p.Tyr1696Ser)
|
|
|
NM_001429.4(EP300):c.5110A>G (p.Lys1704Glu)
|
rs2145514891
|
|
NM_001429.4(EP300):c.5245C>T (p.Arg1749Trp)
|
rs2145515250
|
|
NM_001429.4(EP300):c.5320A>G (p.Lys1774Glu)
|
|
|
NM_001429.4(EP300):c.5366G>A (p.Cys1789Tyr)
|
|
|
NM_001429.4(EP300):c.5440C>T (p.Arg1814Trp)
|
rs757325753
|
|
NM_001429.4(EP300):c.5483T>C (p.Leu1828Pro)
|
rs1057518002
|
|
NM_001429.4(EP300):c.5486G>A (p.Arg1829His)
|
|
|
NM_001429.4(EP300):c.5488A>G (p.Arg1830Gly)
|
|
|
NM_001429.4(EP300):c.5509C>T (p.Arg1837Trp)
|
rs1439243688
|
|
NM_001429.4(EP300):c.5549C>G (p.Pro1850Arg)
|
rs2145516343
|
|
NM_001429.4(EP300):c.5571_5578del (p.Gly1860fs)
|
rs1085307564
|
|
NM_001429.4(EP300):c.5584C>G (p.Gln1862Glu)
|
rs2145516559
|
|
NM_001429.4(EP300):c.5597C>A (p.Pro1866Gln)
|
|
|
NM_001429.4(EP300):c.5607_5624del (p.Ser1873_Thr1878del)
|
rs1555912169
|
|
NM_001429.4(EP300):c.5654C>T (p.Pro1885Leu)
|
|
|
NM_001429.4(EP300):c.5669C>G (p.Thr1890Ser)
|
rs146165770
|
|
NM_001429.4(EP300):c.5671C>G (p.Gln1891Glu)
|
rs2145517044
|
|
NM_001429.4(EP300):c.5704G>A (p.Ala1902Thr)
|
|
|
NM_001429.4(EP300):c.5720del (p.Pro1907fs)
|
rs1601640325
|
|
NM_001429.4(EP300):c.5813C>T (p.Thr1938Met)
|
|
|
NM_001429.4(EP300):c.5833G>A (p.Val1945Met)
|
rs774508702
|
|
NM_001429.4(EP300):c.596G>C (p.Gly199Ala)
|
|
|
NM_001429.4(EP300):c.6058del (p.Gln2020fs)
|
|
|
NM_001429.4(EP300):c.6105G>C (p.Gln2035His)
|
|
|
NM_001429.4(EP300):c.6118C>G (p.Pro2040Ala)
|
|
|
NM_001429.4(EP300):c.6185G>A (p.Ser2062Asn)
|
|
|
NM_001429.4(EP300):c.6274T>G (p.Tyr2092Asp)
|
rs2059212476
|
|
NM_001429.4(EP300):c.635T>C (p.Met212Thr)
|
|
|
NM_001429.4(EP300):c.6449_6460del (p.2146PQQQ[1])
|
rs758586599
|
|
NM_001429.4(EP300):c.6577C>G (p.Gln2193Glu)
|
|
|
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys)
|
rs587778256
|
|
NM_001429.4(EP300):c.6651T>C (p.Val2217=)
|
|
|
NM_001429.4(EP300):c.6690_6698del (p.His2230_Gln2232del)
|
|
|
NM_001429.4(EP300):c.6697C>G (p.Gln2233Glu)
|
rs2145521936
|
|
NM_001429.4(EP300):c.6718G>A (p.Gly2240Arg)
|
rs2145522007
|
|
NM_001429.4(EP300):c.6764C>T (p.Ala2255Val)
|
rs755172061
|
|
NM_001429.4(EP300):c.6786G>C (p.Gln2262His)
|
rs2059217082
|
|
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)
|
rs533875300
|
|
NM_001429.4(EP300):c.6833T>C (p.Met2278Thr)
|
|
|
NM_001429.4(EP300):c.6864G>C (p.Gln2288His)
|
|
|
NM_001429.4(EP300):c.6868C>T (p.Gln2290Ter)
|
rs1555912362
|
|
NM_001429.4(EP300):c.6928C>T (p.Pro2310Ser)
|
|
|
NM_001429.4(EP300):c.6970dup (p.His2324fs)
|
|
|
NM_001429.4(EP300):c.6998C>G (p.Pro2333Arg)
|
|
|
NM_001429.4(EP300):c.7003C>G (p.Pro2335Ala)
|
|
|
NM_001429.4(EP300):c.7008_7010del (p.Pro2337del)
|
rs1413664360
|
|
NM_001429.4(EP300):c.7049G>C (p.Gly2350Ala)
|
|
|
NM_001429.4(EP300):c.7083_7085dup (p.Gly2362_His2363insGly)
|
|
|
NM_001429.4(EP300):c.7100C>T (p.Pro2367Leu)
|
|
|
NM_001429.4(EP300):c.7100del (p.Pro2367fs)
|
rs1569122847
|
|
NM_001429.4(EP300):c.7223A>G (p.Gln2408Arg)
|
|
|
NM_001429.4(EP300):c.730-151T>C
|
rs5758240
|
|
NM_001429.4(EP300):c.730-18_730-9del
|
rs61120041
|
|
NM_001429.4(EP300):c.746A>T (p.Asn249Ile)
|
rs200732771
|
|
NM_001429.4(EP300):c.767C>T (p.Pro256Leu)
|
|
|
NM_001429.4(EP300):c.808C>G (p.Leu270Val)
|
|
|
NM_001429.4(EP300):c.94+260G>C
|
rs146487972
|
|