ClinVar Miner

List of variants in gene EP300

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 330
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HGVS dbSNP
NC_000022.10:g.(41537227_41542742)_(41560135_41562602)dup
NC_000022.10:g.(?_41550979)_(41560154_?)del
NC_000022.11:g.(?_41092585)_(41093099_41117186)del
NC_000022.11:g.41150384_41156982delinsTG
NC_000022.11:g.41152013G>A
NC_000022.11:g.41155018C>T
NC_000022.11:g.41169562C>T
NM_001429.3(EP300):c.3143-4dupT rs757931697
NM_001429.3(EP300):c.3671+5_3671+8delGTAA rs886042977
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.4(EP300):c.*1083_*1085del rs561433394
NM_001429.4(EP300):c.*10_*12GTA[1] rs35508493
NM_001429.4(EP300):c.*137C>T rs113567138
NM_001429.4(EP300):c.*138G>A rs75494658
NM_001429.4(EP300):c.*298A>G rs552755933
NM_001429.4(EP300):c.*340dup rs561569141
NM_001429.4(EP300):c.*352C>T rs577686550
NM_001429.4(EP300):c.*40_*44del rs751376755
NM_001429.4(EP300):c.*52C>G rs542406106
NM_001429.4(EP300):c.*552G>A rs886057574
NM_001429.4(EP300):c.*559A>G rs886057575
NM_001429.4(EP300):c.*568A>G rs533563820
NM_001429.4(EP300):c.*591_*592dup rs60283061
NM_001429.4(EP300):c.*592del rs60283061
NM_001429.4(EP300):c.*592dup rs60283061
NM_001429.4(EP300):c.*745del rs532524940
NM_001429.4(EP300):c.*753T>C rs886057576
NM_001429.4(EP300):c.*785_*786del rs886057577
NM_001429.4(EP300):c.*815A>C rs572918594
NM_001429.4(EP300):c.*844G>A rs532999218
NM_001429.4(EP300):c.*921dup rs1161532977
NM_001429.4(EP300):c.*922A>C rs146984033
NM_001429.4(EP300):c.*922_*930delinsC rs1555912614
NM_001429.4(EP300):c.*922_*930delinsCCC rs1555912614
NM_001429.4(EP300):c.*922_*932delinsC rs886057580
NM_001429.4(EP300):c.*922_*932delinsCCC rs886057580
NM_001429.4(EP300):c.*922_*938delinsC rs886057581
NM_001429.4(EP300):c.*922_*942delinsC rs1555912616
NM_001429.4(EP300):c.*922_*942delinsCC rs1555912616
NM_001429.4(EP300):c.*924T>A rs149250603
NM_001429.4(EP300):c.*924T>C rs149250603
NM_001429.4(EP300):c.*926A>C rs140429533
NM_001429.4(EP300):c.*926_*927AC[18] rs59721178
NM_001429.4(EP300):c.*926_*927AC[20] rs59721178
NM_001429.4(EP300):c.*926_*927AC[22] rs59721178
NM_001429.4(EP300):c.*926_*927AC[23] rs59721178
NM_001429.4(EP300):c.*928A>C rs142198417
NM_001429.4(EP300):c.*930A>C rs879634387
NM_001429.4(EP300):c.*932A>C rs886057585
NM_001429.4(EP300):c.*938A>C rs886057586
NM_001429.4(EP300):c.*942A>C rs754018515
NM_001429.4(EP300):c.*968T>A rs3210590
NM_001429.4(EP300):c.-133A>G rs116913445
NM_001429.4(EP300):c.-139A>G rs886057554
NM_001429.4(EP300):c.-149G>A rs553861147
NM_001429.4(EP300):c.-192C>T rs763177046
NM_001429.4(EP300):c.-212C>T rs886057553
NM_001429.4(EP300):c.-237C>T rs886057552
NM_001429.4(EP300):c.-238T>C rs886057551
NM_001429.4(EP300):c.-363A>C rs886057550
NM_001429.4(EP300):c.102C>G (p.Gly34=) rs750031887
NM_001429.4(EP300):c.102_103CT[1] (p.Ser35fs) rs886037664
NM_001429.4(EP300):c.103T>G (p.Ser35Ala) rs546292445
NM_001429.4(EP300):c.1066C>T (p.Gln356Ter) rs1555907278
NM_001429.4(EP300):c.1092C>A (p.Cys364Ter) rs786205557
NM_001429.4(EP300):c.1150T>G (p.Ser384Ala) rs377368037
NM_001429.4(EP300):c.1164C>A (p.Cys388Ter) rs1555907286
NM_001429.4(EP300):c.1168+18G>A rs3818120
NM_001429.4(EP300):c.1168+7G>C rs181755354
NM_001429.4(EP300):c.1283-8T>C rs76827562
NM_001429.4(EP300):c.1302C>T (p.Pro434=) rs199901345
NM_001429.4(EP300):c.1316A>G (p.Asn439Ser)
NM_001429.4(EP300):c.1403A>T (p.Tyr468Phe) rs587778262
NM_001429.4(EP300):c.1442C>T (p.Pro481Leu)
NM_001429.4(EP300):c.1453C>A (p.Gln485Lys)
NM_001429.4(EP300):c.1508dup (p.Met503fs) rs1555907749
NM_001429.4(EP300):c.1516A>G (p.Met506Val) rs886057556
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly) rs146242251
NM_001429.4(EP300):c.1528+15T>C rs200147263
NM_001429.4(EP300):c.1529-8T>C rs587783621
NM_001429.4(EP300):c.1540A>G (p.Met514Val) rs765266179
NM_001429.4(EP300):c.1572G>A (p.Thr524=) rs746398873
NM_001429.4(EP300):c.1573C>T (p.Pro525Ser) rs886042427
NM_001429.4(EP300):c.1575G>A (p.Pro525=) rs772455986
NM_001429.4(EP300):c.157T>C (p.Leu53=) rs147566983
NM_001429.4(EP300):c.1619A>G (p.Gln540Arg) rs1057518835
NM_001429.4(EP300):c.1627A>G (p.Met543Val)
NM_001429.4(EP300):c.1654T>C (p.Ser552Pro) rs587778263
NM_001429.4(EP300):c.1672A>G (p.Thr558Ala) rs1057519397
NM_001429.4(EP300):c.1710G>A (p.Gln570=) rs886043092
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter) rs137853038
NM_001429.4(EP300):c.1782G>C (p.Thr594=) rs17002307
NM_001429.4(EP300):c.1784C>T (p.Pro595Leu) rs886057557
NM_001429.4(EP300):c.1878+9C>G rs186198699
NM_001429.4(EP300):c.1942C>T (p.Arg648Ter) rs137853039
NM_001429.4(EP300):c.1989C>T (p.Gly663=) rs1291428868
NM_001429.4(EP300):c.1990A>G (p.Met664Val) rs529145180
NM_001429.4(EP300):c.2005A>G (p.Met669Val) rs749541256
NM_001429.4(EP300):c.2019T>C (p.Pro673=) rs2230110
NM_001429.4(EP300):c.2027G>C (p.Gly676Ala) rs1555908795
NM_001429.4(EP300):c.2053+4A>T rs1057518889
NM_001429.4(EP300):c.2053+8G>T rs6002267
NM_001429.4(EP300):c.2064A>G (p.Leu688=) rs61756763
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764
NM_001429.4(EP300):c.2131+13A>T rs886057558
NM_001429.4(EP300):c.2131+18T>A rs9611506
NM_001429.4(EP300):c.2161dup (p.Ala721fs) rs1057519012
NM_001429.4(EP300):c.2164dup (p.Gln722fs) rs879253873
NM_001429.4(EP300):c.2173A>G (p.Ile725Val) rs73885743
NM_001429.4(EP300):c.2174T>C (p.Ile725Thr) rs375822328
NM_001429.4(EP300):c.2240C>T (p.Pro747Leu) rs193026103
NM_001429.4(EP300):c.2242-6_2242-4del rs747710183
NM_001429.4(EP300):c.2242-8T>C rs199931034
NM_001429.4(EP300):c.2252A>G (p.Tyr751Cys)
NM_001429.4(EP300):c.2348C>T (p.Ala783Val) rs755619355
NM_001429.4(EP300):c.2359G>A (p.Gly787Ser) rs564786569
NM_001429.4(EP300):c.2380-15T>C rs17002316
NM_001429.4(EP300):c.2393G>A (p.Ser798Asn) rs781326261
NM_001429.4(EP300):c.2419A>G (p.Ile807Val) rs201054979
NM_001429.4(EP300):c.2499G>A (p.Ser833=) rs35560602
NM_001429.4(EP300):c.2503G>A (p.Val835Ile) rs1569107347
NM_001429.4(EP300):c.2536C>T (p.Pro846Ser) rs886057560
NM_001429.4(EP300):c.2540dup (p.Ser848fs) rs1569107391
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr) rs145714752
NM_001429.4(EP300):c.2580A>G (p.Pro860=) rs752536439
NM_001429.4(EP300):c.2609C>T (p.Pro870Leu) rs540935486
NM_001429.4(EP300):c.2627A>T (p.Gln876Leu) rs587778254
NM_001429.4(EP300):c.2629G>A (p.Ala877Thr) rs772289466
NM_001429.4(EP300):c.272del (p.Pro91fs) rs1555905780
NM_001429.4(EP300):c.2756G>A (p.Ser919Asn) rs141403873
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710
NM_001429.4(EP300):c.2774dup (p.Thr926fs) rs587778253
NM_001429.4(EP300):c.2787A>G (p.Ala929=) rs143690368
NM_001429.4(EP300):c.2877_2884del (p.Thr960fs) rs1569108381
NM_001429.4(EP300):c.2931G>C (p.Lys977Asn) rs749225428
NM_001429.4(EP300):c.2983G>T (p.Glu995Ter) rs1555909666
NM_001429.4(EP300):c.2989A>G (p.Ile997Val) rs20551
NM_001429.4(EP300):c.2998-12G>A rs115849119
NM_001429.4(EP300):c.3030C>G (p.Thr1010=) rs148414681
NM_001429.4(EP300):c.3031G>C (p.Glu1011Gln) rs775368605
NM_001429.4(EP300):c.3038A>G (p.Glu1013Gly) rs1234168115
NM_001429.4(EP300):c.3063T>C (p.Thr1021=) rs142431552
NM_001429.4(EP300):c.3070_3074del (p.Lys1024fs) rs1555909697
NM_001429.4(EP300):c.307G>A (p.Val103Ile) rs1193355188
NM_001429.4(EP300):c.3105C>T (p.Thr1035=) rs150498069
NM_001429.4(EP300):c.3143-4del rs757931697
NM_001429.4(EP300):c.3143-7T>G rs778277906
NM_001429.4(EP300):c.3162A>G (p.Leu1054=) rs139758629
NM_001429.4(EP300):c.3163C>T (p.Arg1055Ter) rs886041830
NM_001429.4(EP300):c.316A>G (p.Ser106Gly) rs150245975
NM_001429.4(EP300):c.3183T>A (p.Thr1061=) rs20552
NM_001429.4(EP300):c.319C>T (p.Gln107Ter) rs1064797038
NM_001429.4(EP300):c.324C>T (p.Ala108=) rs138876937
NM_001429.4(EP300):c.3262-2A>G rs1555910114
NM_001429.4(EP300):c.3330G>T (p.Gln1110His) rs374163115
NM_001429.4(EP300):c.3348G>A (p.Gln1116=) rs20554
NM_001429.4(EP300):c.3354C>T (p.Val1118=) rs11704815
NM_001429.4(EP300):c.3412dup (p.Val1138fs) rs1555910122
NM_001429.4(EP300):c.3426C>T (p.Cys1142=) rs76268515
NM_001429.4(EP300):c.3472C>T (p.Gln1158Ter) rs886041739
NM_001429.4(EP300):c.3502-1G>T rs886041520
NM_001429.4(EP300):c.3573T>A (p.Tyr1191Ter) rs565779970
NM_001429.4(EP300):c.3591-6C>T rs368437789
NM_001429.4(EP300):c.359G>A (p.Ser120Asn) rs1303897359
NM_001429.4(EP300):c.3615C>G (p.Phe1205Leu) rs587778255
NM_001429.4(EP300):c.3617A>G (p.Asn1206Ser)
NM_001429.4(EP300):c.3624C>A (p.Ile1208=) rs143660871
NM_001429.4(EP300):c.363G>C (p.Met121Ile) rs757476470
NM_001429.4(EP300):c.3649G>A (p.Asp1217Asn) rs1085307911
NM_001429.4(EP300):c.3665C>A (p.Pro1222His) rs7285319
NM_001429.4(EP300):c.3684_3687del (p.Lys1228fs) rs1555910482
NM_001429.4(EP300):c.3728+5G>C rs1114167305
NM_001429.4(EP300):c.3731_3733TTG[1] (p.Val1245del) rs1555910602
NM_001429.4(EP300):c.3750C>G (p.Cys1250Trp)
NM_001429.4(EP300):c.376A>G (p.Met126Val) rs200635644
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.3913C>T (p.Arg1305Cys) rs1555911073
NM_001429.4(EP300):c.3934C>T (p.Arg1312Ter) rs1555911075
NM_001429.4(EP300):c.4016T>C (p.Met1339Thr) rs1064795607
NM_001429.4(EP300):c.4026-17C>A rs2294976
NM_001429.4(EP300):c.4026-2A>G rs1555911098
NM_001429.4(EP300):c.4026-7T>C rs187388966
NM_001429.4(EP300):c.4065C>A (p.Tyr1355Ter) rs886043598
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.4195G>A (p.Asp1399Asn) rs1057519889
NM_001429.4(EP300):c.4195G>T (p.Asp1399Tyr) rs1057519889
NM_001429.4(EP300):c.4214G>A (p.Arg1405His) rs138855106
NM_001429.4(EP300):c.4311A>C (p.Ala1437=) rs150941761
NM_001429.4(EP300):c.4331A>G (p.Asp1444Gly) rs1569117388
NM_001429.4(EP300):c.4347T>C (p.His1449=) rs137986257
NM_001429.4(EP300):c.4363C>T (p.Gln1455Ter) rs1555911313
NM_001429.4(EP300):c.4371_4376del (p.Ile1457_Lys1459delinsMet) rs1555911316
NM_001429.4(EP300):c.444G>A (p.Thr148=) rs376779611
NM_001429.4(EP300):c.444G>C (p.Thr148=) rs376779611
NM_001429.4(EP300):c.4452+20C>T rs6002271
NM_001429.4(EP300):c.4452+5G>T rs1555911334
NM_001429.4(EP300):c.4482A>G (p.Arg1494=) rs149471059
NM_001429.4(EP300):c.4503G>A (p.Leu1501=) rs368320273
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
NM_001429.4(EP300):c.4511T>G (p.Phe1504Cys) rs1114167306
NM_001429.4(EP300):c.4529C>G (p.Pro1510Arg) rs1569118503
NM_001429.4(EP300):c.4579_4589del (p.Arg1527fs) rs1555911580
NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter) rs1569118537
NM_001429.4(EP300):c.4598C>A (p.Thr1533Asn) rs886057561
NM_001429.4(EP300):c.4618-11C>T
NM_001429.4(EP300):c.4618-18C>T rs2076578
NM_001429.4(EP300):c.471A>G (p.Pro157=)
NM_001429.4(EP300):c.4724A>G (p.Asn1575Ser) rs144547088
NM_001429.4(EP300):c.4763T>C (p.Met1588Thr) rs1057521737
NM_001429.4(EP300):c.4779+18A>G rs146245982
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001429.4(EP300):c.4798C>G (p.Leu1600Val) rs140154690
NM_001429.4(EP300):c.4824C>G (p.Ser1608=) rs199994113
NM_001429.4(EP300):c.4836dup (p.Val1613fs) rs797045559
NM_001429.4(EP300):c.4908C>T (p.Asp1636=) rs886057562
NM_001429.4(EP300):c.4933C>T (p.Arg1645Ter) rs139310551
NM_001429.4(EP300):c.4954_4957dup (p.Cys1653fs) rs1555912040
NM_001429.4(EP300):c.495G>T (p.Met165Ile) rs1343346566
NM_001429.4(EP300):c.4994G>A (p.Arg1665His)
NM_001429.4(EP300):c.5028T>C (p.His1676=) rs747152661
NM_001429.4(EP300):c.5061+10G>A rs78432056
NM_001429.4(EP300):c.5061+7A>G rs886057563
NM_001429.4(EP300):c.5061+9C>T rs73176628
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.513G>A (p.Ala171=) rs146041458
NM_001429.4(EP300):c.5147G>C (p.Ser1716Thr) rs147676363
NM_001429.4(EP300):c.5170_5194del (p.Thr1724fs) rs1555912112
NM_001429.4(EP300):c.5172C>A (p.Thr1724=) rs142330184
NM_001429.4(EP300):c.5179C>T (p.Pro1727Ser) rs886057564
NM_001429.4(EP300):c.5259C>T (p.Cys1753=) rs148040990
NM_001429.4(EP300):c.5262A>G (p.Ser1754=) rs886057565
NM_001429.4(EP300):c.536C>G (p.Ala179Gly) rs1064797288
NM_001429.4(EP300):c.5422A>C (p.Asn1808His) rs1569120861
NM_001429.4(EP300):c.5440C>A (p.Arg1814=) rs757325753
NM_001429.4(EP300):c.5471A>C (p.Gln1824Pro) rs1569120903
NM_001429.4(EP300):c.5483T>C (p.Leu1828Pro) rs1057518002
NM_001429.4(EP300):c.5489_5491GGA[1] (p.Arg1831del) rs1569120910
NM_001429.4(EP300):c.5492G>C (p.Arg1831Thr)
NM_001429.4(EP300):c.5552C>T (p.Thr1851Ile) rs587778257
NM_001429.4(EP300):c.5556_5564del (p.Ala1853_Pro1855del) rs1555912151
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.5601G>A (p.Gln1867=) rs1250353355
NM_001429.4(EP300):c.5604G>A (p.Thr1868=) rs200795114
NM_001429.4(EP300):c.5644A>G (p.Ser1882Gly) rs769796204
NM_001429.4(EP300):c.5669C>G (p.Thr1890Ser) rs146165770
NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser)
NM_001429.4(EP300):c.569A>G (p.Gln190Arg)
NM_001429.4(EP300):c.5711A>C (p.Gln1904Pro) rs140187237
NM_001429.4(EP300):c.5723dup (p.Thr1909fs) rs1555912182
NM_001429.4(EP300):c.574A>T (p.Met192Leu) rs771650739
NM_001429.4(EP300):c.5808G>A (p.Ala1936=) rs144798492
NM_001429.4(EP300):c.5814G>A (p.Thr1938=) rs112948044
NM_001429.4(EP300):c.586A>G (p.Ile196Val) rs148693910
NM_001429.4(EP300):c.5889C>T (p.Ala1963=) rs886057566
NM_001429.4(EP300):c.5914A>G (p.Met1972Val) rs373725137
NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu) rs144626200
NM_001429.4(EP300):c.5966T>G (p.Met1989Arg) rs760421892
NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser) rs1210404526
NM_001429.4(EP300):c.6091C>T (p.Pro2031Ser) rs199650847
NM_001429.4(EP300):c.615G>A (p.Met205Ile) rs766306644
NM_001429.4(EP300):c.6196C>T (p.Gln2066Ter) rs1555912238
NM_001429.4(EP300):c.6210G>A (p.Val2070=) rs11912899
NM_001429.4(EP300):c.6289C>G (p.Pro2097Ala) rs200189212
NM_001429.4(EP300):c.6315C>T (p.Gly2105=) rs528866215
NM_001429.4(EP300):c.631G>A (p.Gly211Ser) rs142030651
NM_001429.4(EP300):c.6358G>T (p.Gly2120Cys) rs886057567
NM_001429.4(EP300):c.6372C>T (p.Val2124=) rs34985152
NM_001429.4(EP300):c.6374A>G (p.His2125Arg) rs886057568
NM_001429.4(EP300):c.638del (p.Gly213fs) rs1569090642
NM_001429.4(EP300):c.6390G>A (p.Met2130Ile) rs147973806
NM_001429.4(EP300):c.6395A>T (p.Asn2132Ile) rs886057569
NM_001429.4(EP300):c.6413C>T (p.Ala2138Val) rs587778258
NM_001429.4(EP300):c.6417C>T (p.Gly2139=) rs111315183
NM_001429.4(EP300):c.6437C>A (p.Pro2146His) rs745528077
NM_001429.4(EP300):c.6481A>G (p.Met2161Val) rs188035979
NM_001429.4(EP300):c.6504G>A (p.Met2168Ile) rs566357328
NM_001429.4(EP300):c.6516C>A (p.His2172Gln) rs139382344
NM_001429.4(EP300):c.6526C>T (p.Pro2176Ser) rs779543207
NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del) rs875989807
NM_001429.4(EP300):c.6586G>A (p.Gly2196Arg) rs587778260
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.6636G>A (p.Gln2212=) rs142673005
NM_001429.4(EP300):c.6660A>G (p.Pro2220=) rs886038484
NM_001429.4(EP300):c.6662C>A (p.Pro2221Gln) rs28937578
NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro) rs1046088
NM_001429.4(EP300):c.667C>G (p.Leu223Val) rs746720991
NM_001429.4(EP300):c.6691del (p.Met2231fs)
NM_001429.4(EP300):c.6713A>G (p.Asn2238Ser) rs767335677
NM_001429.4(EP300):c.6729C>T (p.Gly2243=) rs765194008
NM_001429.4(EP300):c.678C>G (p.Gly226=) rs147244947
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.684C>G (p.Pro228=) rs749187279
NM_001429.4(EP300):c.6868C>T (p.Gln2290Ter) rs1555912362
NM_001429.4(EP300):c.68_69TC[1] (p.Ser24fs) rs1555902247
NM_001429.4(EP300):c.6907C>G (p.Leu2303Val) rs144787962
NM_001429.4(EP300):c.6912C>T (p.Ser2304=) rs113329190
NM_001429.4(EP300):c.6915_6918del (p.Asn2305fs) rs797045560
NM_001429.4(EP300):c.6950G>A (p.Arg2317Gln) rs149456776
NM_001429.4(EP300):c.6951G>A (p.Arg2317=) rs139551099
NM_001429.4(EP300):c.6969C>G (p.Pro2323=) rs111489369
NM_001429.4(EP300):c.6984C>A (p.Ser2328=) rs200478275
NM_001429.4(EP300):c.7017C>T (p.His2339=) rs759571982
NM_001429.4(EP300):c.7018G>A (p.Val2340Ile) rs558456063
NM_001429.4(EP300):c.7070A>G (p.Asn2357Ser)
NM_001429.4(EP300):c.7072C>G (p.Pro2358Ala) rs1569122827
NM_001429.4(EP300):c.7100del (p.Pro2367fs) rs1569122847
NM_001429.4(EP300):c.7136A>G (p.Asn2379Ser) rs886057571
NM_001429.4(EP300):c.7139C>T (p.Pro2380Leu) rs587778259
NM_001429.4(EP300):c.7220_7221CA[1] (p.Gln2408fs) rs1057519375
NM_001429.4(EP300):c.7221A>G (p.Ser2407=) rs964396023
NM_001429.4(EP300):c.7245G>A (p.Ter2415=) rs587783622
NM_001429.4(EP300):c.726T>A (p.Leu242=) rs886057555
NM_001429.4(EP300):c.730-18_730-9del rs61120041
NM_001429.4(EP300):c.739A>G (p.Met247Val) rs147583157
NM_001429.4(EP300):c.752A>G (p.Asn251Ser) rs142009367
NM_001429.4(EP300):c.769_786del (p.Tyr257_Gly262del) rs876661318
NM_001429.4(EP300):c.781C>T (p.Pro261Ser) rs753462821
NM_001429.4(EP300):c.865A>G (p.Met289Val) rs2230111
NM_001429.4(EP300):c.871A>G (p.Lys291Glu) rs1555907094
NM_001429.4(EP300):c.907-17_907-8del rs797045561
NM_001429.4(EP300):c.923C>T (p.Pro308Leu) rs587778261
NM_001429.4(EP300):c.94+13A>G rs201124490
NM_001429.4(EP300):c.942C>T (p.Gly314=) rs20553
NM_001429.4(EP300):c.95-16T>C rs5758235
NM_001429.4(EP300):c.952C>G (p.Pro318Ala) rs762647727
NM_001429.4:c.730_1760del

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