ClinVar Miner

List of variants in gene EP300 studied for not provided

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Gene type:
ClinVar version:
Total variants: 555
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HGVS dbSNP gnomAD frequency
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.1168+7G>C rs181755354 0.00718
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.7177C>G (p.Leu2393Val) rs377508897 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.5711A>C (p.Gln1904Pro) rs140187237 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.2787A>G (p.Ala929=) rs143690368 0.00012
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.7017C>T (p.His2339=) rs759571982 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.586A>G (p.Ile196Val) rs148693910 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.752A>G (p.Asn251Ser) rs142009367 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.4214G>A (p.Arg1405His) rs138855106 0.00006
NM_001429.4(EP300):c.5346C>T (p.Cys1782=) rs747513510 0.00006
NM_001429.4(EP300):c.5568G>A (p.Thr1856=) rs202043101 0.00006
NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu) rs144626200 0.00006
NM_001429.4(EP300):c.6649G>A (p.Val2217Ile) rs368554118 0.00006
NM_001429.4(EP300):c.6912C>T (p.Ser2304=) rs113329190 0.00006
NM_001429.4(EP300):c.7114A>G (p.Met2372Val) rs768061933 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.6922C>T (p.Arg2308Cys) rs145312648 0.00005
NM_001429.4(EP300):c.2201A>G (p.Gln734Arg) rs779657418 0.00004
NM_001429.4(EP300):c.2419A>G (p.Ile807Val) rs201054979 0.00004
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.4347T>C (p.His1449=) rs137986257 0.00004
NM_001429.4(EP300):c.5028T>C (p.His1676=) rs747152661 0.00004
NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser) rs749979249 0.00004
NM_001429.4(EP300):c.6923G>A (p.Arg2308His) rs759647202 0.00004
NM_001429.4(EP300):c.103T>G (p.Ser35Ala) rs546292445 0.00003
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.2241G>A (p.Pro747=) rs759604286 0.00003
NM_001429.4(EP300):c.2572A>G (p.Thr858Ala) rs201030855 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.6413C>T (p.Ala2138Val) rs587778258 0.00003
NM_001429.4(EP300):c.6488C>T (p.Pro2163Leu) rs1013716287 0.00003
NM_001429.4(EP300):c.7018G>A (p.Val2340Ile) rs558456063 0.00003
NM_001429.4(EP300):c.7082A>G (p.Gln2361Arg) rs1263635747 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.4566G>A (p.Gln1522=) rs765163038 0.00002
NM_001429.4(EP300):c.5150A>G (p.Asn1717Ser) rs779154669 0.00002
NM_001429.4(EP300):c.574A>T (p.Met192Leu) rs771650739 0.00002
NM_001429.4(EP300):c.579C>T (p.Asn193=) rs376004661 0.00002
NM_001429.4(EP300):c.5914A>G (p.Met1972Val) rs373725137 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.1303G>A (p.Val435Ile) rs779573838 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.1710G>A (p.Gln570=) rs886043092 0.00001
NM_001429.4(EP300):c.1998A>G (p.Pro666=) rs1451165837 0.00001
NM_001429.4(EP300):c.2005A>G (p.Met669Val) rs749541256 0.00001
NM_001429.4(EP300):c.2062C>T (p.Leu688=) rs767283642 0.00001
NM_001429.4(EP300):c.2078T>C (p.Met693Thr) rs199636064 0.00001
NM_001429.4(EP300):c.2348C>T (p.Ala783Val) rs755619355 0.00001
NM_001429.4(EP300):c.2503G>A (p.Val835Ile) rs1569107347 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.3330G>T (p.Gln1110His) rs374163115 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.4532A>G (p.Asn1511Ser) rs763860567 0.00001
NM_001429.4(EP300):c.469C>A (p.Pro157Thr) rs748538778 0.00001
NM_001429.4(EP300):c.471A>G (p.Pro157=) rs770598337 0.00001
NM_001429.4(EP300):c.495G>T (p.Met165Ile) rs1343346566 0.00001
NM_001429.4(EP300):c.5052T>C (p.Thr1684=) rs776906521 0.00001
NM_001429.4(EP300):c.5092A>G (p.Thr1698Ala) rs549834848 0.00001
NM_001429.4(EP300):c.536C>G (p.Ala179Gly) rs1064797288 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.5966T>G (p.Met1989Arg) rs760421892 0.00001
NM_001429.4(EP300):c.6020A>G (p.Gln2007Arg) rs763892493 0.00001
NM_001429.4(EP300):c.6138G>C (p.Val2046=) rs1194421079 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.650A>G (p.Asn217Ser) rs139130083 0.00001
NM_001429.4(EP300):c.6518A>C (p.Asn2173Thr) rs1555912302 0.00001
NM_001429.4(EP300):c.6526C>T (p.Pro2176Ser) rs779543207 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.825G>A (p.Gln275=) rs149058635 0.00001
NM_001429.4(EP300):c.892G>A (p.Gly298Arg) rs755143118 0.00001
GRCh37/hg19 22q13.2(chr22:41408541-41580159)x3
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.4(EP300):c.*10GTA[1] rs35508493
NM_001429.4(EP300):c.*47_*49del
NM_001429.4(EP300):c.*6C>T rs544616799
NM_001429.4(EP300):c.*7C>T
NM_001429.4(EP300):c.1017G>A (p.Gln339=) rs1601604791
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.1092C>A (p.Cys364Ter) rs786205557
NM_001429.4(EP300):c.1157A>G (p.Lys386Arg)
NM_001429.4(EP300):c.1164C>A (p.Cys388Ter) rs1555907286
NM_001429.4(EP300):c.1215T>C (p.Asn405=) rs1242358857
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.12T>A (p.Asn4Lys)
NM_001429.4(EP300):c.1327_1328del (p.Leu443fs) rs2145715515
NM_001429.4(EP300):c.1352C>A (p.Pro451His)
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.1439T>C (p.Met480Thr) rs1601607143
NM_001429.4(EP300):c.1442C>T (p.Pro481Leu) rs533244094
NM_001429.4(EP300):c.1517del (p.Met506fs) rs1601607265
NM_001429.4(EP300):c.1528+2T>C rs2145715940
NM_001429.4(EP300):c.152C>T (p.Thr51Ile)
NM_001429.4(EP300):c.1532C>T (p.Ala511Val)
NM_001429.4(EP300):c.1571C>T (p.Thr524Met) rs1452596865
NM_001429.4(EP300):c.1573C>T (p.Pro525Ser) rs886042427
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.1784C>T (p.Pro595Leu) rs886057557
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.191T>C (p.Leu64Pro)
NM_001429.4(EP300):c.1927G>A (p.Glu643Lys)
NM_001429.4(EP300):c.194A>G (p.Gln65Arg)
NM_001429.4(EP300):c.2034G>A (p.Pro678=)
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.2224C>G (p.Pro742Ala)
NM_001429.4(EP300):c.2232T>G (p.Ala744=)
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.2305C>T (p.Gln769Ter) rs2145735938
NM_001429.4(EP300):c.231A>G (p.Lys77=)
NM_001429.4(EP300):c.2325G>T (p.Met775Ile) rs2145736030
NM_001429.4(EP300):c.2333dup (p.Asn779fs) rs2145736063
NM_001429.4(EP300):c.2357G>T (p.Ser786Ile)
NM_001429.4(EP300):c.2379+154_2379+156del rs67744457
NM_001429.4(EP300):c.2485C>T (p.Gln829Ter)
NM_001429.4(EP300):c.2498C>T (p.Ser833Leu) rs1803789601
NM_001429.4(EP300):c.2540dup (p.Ser848fs) rs1569107391
NM_001429.4(EP300):c.256C>T (p.Arg86Ter) rs1601598122
NM_001429.4(EP300):c.2580A>C (p.Pro860=)
NM_001429.4(EP300):c.2634A>G (p.Leu878=) rs1309658711
NM_001429.4(EP300):c.2647A>G (p.Arg883Gly) rs2059034589
NM_001429.4(EP300):c.2689G>C (p.Val897Leu) rs1375233087
NM_001429.4(EP300):c.2704C>T (p.Pro902Ser)
NM_001429.4(EP300):c.272dup (p.Pro91_Asn92insTer) rs1555905780
NM_001429.4(EP300):c.2743C>T (p.Arg915Cys)
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.3143-2A>T rs1275921990
NM_001429.4(EP300):c.3143-3A>T rs749597275
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.3216C>T (p.Ser1072=)
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.3355GAT[1] (p.Asp1120del)
NM_001429.4(EP300):c.3362T>C (p.Ile1121Thr)
NM_001429.4(EP300):c.3397C>T (p.Arg1133Trp)
NM_001429.4(EP300):c.3398G>A (p.Arg1133Gln)
NM_001429.4(EP300):c.3412dup (p.Val1138fs) rs1555910122
NM_001429.4(EP300):c.3428C>G (p.Ser1143Cys) rs2059082907
NM_001429.4(EP300):c.3472C>T (p.Gln1158Ter) rs886041739
NM_001429.4(EP300):c.3502-1G>T rs886041520
NM_001429.4(EP300):c.3565G>A (p.Ala1189Thr)
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.3671+1G>A rs2059103511
NM_001429.4(EP300):c.3671+5_3671+8del rs886042977
NM_001429.4(EP300):c.3684_3687del (p.Lys1228fs) rs1555910482
NM_001429.4(EP300):c.3685G>T (p.Glu1229Ter) rs866430850
NM_001429.4(EP300):c.3740G>A (p.Cys1247Tyr) rs2145756387
NM_001429.4(EP300):c.3747G>C (p.Glu1249Asp)
NM_001429.4(EP300):c.3811G>C (p.Val1271Leu)
NM_001429.4(EP300):c.3815G>C (p.Cys1272Ser)
NM_001429.4(EP300):c.3818A>G (p.Asp1273Gly) rs2145759316
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.3889A>T (p.Arg1297Ter)
NM_001429.4(EP300):c.3899C>T (p.Thr1300Ile)
NM_001429.4(EP300):c.3913C>T (p.Arg1305Cys) rs1555911073
NM_001429.4(EP300):c.3933G>A (p.Arg1311=) rs1347207948
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.3996C>G (p.Thr1332=)
NM_001429.4(EP300):c.4016T>C (p.Met1339Thr) rs1064795607
NM_001429.4(EP300):c.4065C>A (p.Tyr1355Ter) rs886043598
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.4155C>T (p.Cys1385=)
NM_001429.4(EP300):c.4172+5_4172+7delinsAT rs2145763996
NM_001429.4(EP300):c.4173-6G>A rs753407510
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.4213del (p.Arg1405fs)
NM_001429.4(EP300):c.4233T>C (p.Thr1411=)
NM_001429.4(EP300):c.4301A>T (p.His1434Leu)
NM_001429.4(EP300):c.4306T>C (p.Trp1436Arg)
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.4432C>T (p.Arg1478Cys) rs1445337631
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.4453-2A>G rs2145769929
NM_001429.4(EP300):c.4487C>G (p.Thr1496Arg) rs2145770052
NM_001429.4(EP300):c.4515G>A (p.Glu1505=)
NM_001429.4(EP300):c.4540G>C (p.Glu1514Gln)
NM_001429.4(EP300):c.4558C>G (p.Leu1520Val)
NM_001429.4(EP300):c.4580G>T (p.Arg1527Ile)
NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter) rs1569118537
NM_001429.4(EP300):c.4601G>A (p.Ser1534Asn)
NM_001429.4(EP300):c.4608A>G (p.Glu1536=)
NM_001429.4(EP300):c.4617+1G>A
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.4788T>C (p.Phe1596=) rs1601639129
NM_001429.4(EP300):c.4798C>G (p.Leu1600Val) rs140154690
NM_001429.4(EP300):c.4844C>G (p.Pro1615Arg)
NM_001429.4(EP300):c.4875dup (p.Gly1626fs) rs2059200372
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.5015A>G (p.Glu1672Gly)
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.5095A>G (p.Lys1699Glu) rs2059203421
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.5265G>A (p.Leu1755=)
NM_001429.4(EP300):c.5320A>G (p.Lys1774Glu)
NM_001429.4(EP300):c.532T>C (p.Leu178=)
NM_001429.4(EP300):c.5366G>A (p.Cys1789Tyr)
NM_001429.4(EP300):c.5440C>T (p.Arg1814Trp) rs757325753
NM_001429.4(EP300):c.5471A>C (p.Gln1824Pro) rs1569120903
NM_001429.4(EP300):c.5477A>C (p.Gln1826Pro) rs2145516037
NM_001429.4(EP300):c.5483T>C (p.Leu1828Pro) rs1057518002
NM_001429.4(EP300):c.5485C>T (p.Arg1829Cys) rs2145516075
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.5559C>A (p.Ala1853=)
NM_001429.4(EP300):c.5564C>T (p.Pro1855Leu)
NM_001429.4(EP300):c.5571_5578del (p.Gly1860fs) rs1085307564
NM_001429.4(EP300):c.5572C>G (p.Pro1858Ala) rs398123610
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.569A>G (p.Gln190Arg) rs199653514
NM_001429.4(EP300):c.5702CAG[3] (p.Ala1902_Gly1903insAla)
NM_001429.4(EP300):c.5704G>A (p.Ala1902Thr)
NM_001429.4(EP300):c.5720del (p.Pro1907fs) rs1601640325
NM_001429.4(EP300):c.574A>G (p.Met192Val)
NM_001429.4(EP300):c.580G>A (p.Gly194Ser)
NM_001429.4(EP300):c.5813C>T (p.Thr1938Met)
NM_001429.4(EP300):c.5833G>A (p.Val1945Met) rs774508702
NM_001429.4(EP300):c.5873del (p.Pro1958fs) rs2145518271
NM_001429.4(EP300):c.5879C>T (p.Thr1960Ile)
NM_001429.4(EP300):c.5938T>G (p.Leu1980Val)
NM_001429.4(EP300):c.596G>C (p.Gly199Ala)
NM_001429.4(EP300):c.5973dup (p.Gln1992fs) rs2059209950
NM_001429.4(EP300):c.598C>G (p.Arg200Gly)
NM_001429.4(EP300):c.604C>T (p.Arg202Ter)
NM_001429.4(EP300):c.6058del (p.Gln2020fs)
NM_001429.4(EP300):c.6090A>G (p.Gln2030=)
NM_001429.4(EP300):c.6105G>C (p.Gln2035His)
NM_001429.4(EP300):c.6108A>G (p.Val2036=)
NM_001429.4(EP300):c.6118C>G (p.Pro2040Ala)
NM_001429.4(EP300):c.6141T>A (p.Ser2047=) rs1254969855
NM_001429.4(EP300):c.6185G>A (p.Ser2062Asn)
NM_001429.4(EP300):c.6261G>C (p.Gln2087His) rs767446483
NM_001429.4(EP300):c.6274T>G (p.Tyr2092Asp) rs2059212476
NM_001429.4(EP300):c.6291A>G (p.Pro2097=)
NM_001429.4(EP300):c.6294A>G (p.Gln2098=)
NM_001429.4(EP300):c.635T>C (p.Met212Thr)
NM_001429.4(EP300):c.6389T>C (p.Met2130Thr) rs1299853803
NM_001429.4(EP300):c.6449_6460del (p.2146PQQQ[1]) rs758586599
NM_001429.4(EP300):c.651C>T (p.Asn217=) rs1386790465
NM_001429.4(EP300):c.6532C>T (p.Gln2178Ter)
NM_001429.4(EP300):c.6536T>C (p.Phe2179Ser)
NM_001429.4(EP300):c.6577C>G (p.Gln2193Glu)
NM_001429.4(EP300):c.6600A>G (p.Gly2200=)
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.6644A>G (p.Gln2215Arg)
NM_001429.4(EP300):c.6651T>C (p.Val2217=)
NM_001429.4(EP300):c.6659C>T (p.Pro2220Leu) rs555467754
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.6713A>G (p.Asn2238Ser) rs767335677
NM_001429.4(EP300):c.6718G>A (p.Gly2240Arg) rs2145522007
NM_001429.4(EP300):c.6723G>C (p.Gln2241His)
NM_001429.4(EP300):c.6764C>T (p.Ala2255Val) rs755172061
NM_001429.4(EP300):c.6773A>T (p.Gln2258Leu) rs2145522210
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.6859A>G (p.Asn2287Asp) rs2145522603
NM_001429.4(EP300):c.6864G>C (p.Gln2288His)
NM_001429.4(EP300):c.6868C>T (p.Gln2290Ter) rs1555912362
NM_001429.4(EP300):c.6920T>C (p.Val2307Ala)
NM_001429.4(EP300):c.6928C>T (p.Pro2310Ser)
NM_001429.4(EP300):c.693A>G (p.Gly231=)
NM_001429.4(EP300):c.6948A>G (p.Pro2316=)
NM_001429.4(EP300):c.6954A>G (p.Pro2318=) rs779544216
NM_001429.4(EP300):c.695G>C (p.Gly232Ala) rs1261612920
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.7013A>G (p.His2338Arg)
NM_001429.4(EP300):c.7049G>C (p.Gly2350Ala)
NM_001429.4(EP300):c.7072C>G (p.Pro2358Ala) rs1569122827
NM_001429.4(EP300):c.7081C>T (p.Gln2361Ter) rs2145523848
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.7101G>A (p.Pro2367=)
NM_001429.4(EP300):c.7149A>G (p.Ala2383=)
NM_001429.4(EP300):c.7157A>G (p.His2386Arg)
NM_001429.4(EP300):c.7168G>A (p.Ala2390Thr)
NM_001429.4(EP300):c.7221A>G (p.Ser2407=) rs964396023
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
NM_001429.4(EP300):c.985A>G (p.Thr329Ala) rs2145710174

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