ClinVar Miner

List of variants in gene EP300 studied for dysostosis

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1178
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.2053+8G>T rs6002267 0.96326
NM_001429.4(EP300):c.3183T>A (p.Thr1061=) rs20552 0.59984
NM_001429.4(EP300):c.4453-23T>C rs2076577 0.51146
NM_001429.4(EP300):c.4618-18C>T rs2076578 0.25729
NM_001429.4(EP300):c.4452+20C>T rs6002271 0.24366
NM_001429.4(EP300):c.4026-17C>A rs2294976 0.07014
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.1168+18G>A rs3818120 0.04073
NM_001429.4(EP300):c.3348G>A (p.Gln1116=) rs20554 0.04022
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.1283-8T>C rs76827562 0.01914
NM_001429.4(EP300):c.942C>T (p.Gly314=) rs20553 0.01913
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.3426C>T (p.Cys1142=) rs76268515 0.01549
NM_001429.4(EP300):c.2131+17A>T rs113214815 0.01318
NM_001429.4(EP300):c.2019T>C (p.Pro673=) rs2230110 0.01054
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.2773C>A (p.Pro925Thr) rs148884710 0.00410
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764 0.00379
NM_001429.4(EP300):c.*745del rs532524940 0.00291
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.6636G>A (p.Gln2212=) rs142673005 0.00225
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.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.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.316A>G (p.Ser106Gly) rs150245975 0.00054
NM_001429.4(EP300):c.1168+20T>C rs3818121 0.00052
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.739A>G (p.Met247Val) rs147583157 0.00041
NM_001429.4(EP300):c.6951G>A (p.Arg2317=) rs139551099 0.00035
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.1990A>G (p.Met664Val) rs529145180 0.00027
NM_001429.4(EP300):c.4724A>G (p.Asn1575Ser) rs144547088 0.00026
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.444G>A (p.Thr148=) rs376779611 0.00022
NM_001429.4(EP300):c.6043A>G (p.Met2015Val) rs1351718424 0.00021
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.2765C>T (p.Ala922Val) rs150389014 0.00016
NM_001429.4(EP300):c.4026G>A (p.Arg1342=) rs146119145 0.00016
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.3537C>A (p.Gly1179=) rs148939960 0.00014
NM_001429.4(EP300):c.5361C>T (p.Ala1787=) rs200552141 0.00014
NM_001429.4(EP300):c.1539T>C (p.Pro513=) rs377140865 0.00013
NM_001429.4(EP300):c.1782G>C (p.Thr594=) rs17002307 0.00013
NM_001429.4(EP300):c.2242-14T>G rs760859922 0.00013
NM_001429.4(EP300):c.2645C>G (p.Pro882Arg) rs772707021 0.00012
NM_001429.4(EP300):c.2787A>G (p.Ala929=) rs143690368 0.00012
NM_001429.4(EP300):c.4026-7T>C rs187388966 0.00012
NM_001429.4(EP300):c.448T>C (p.Ser150Pro) rs138241570 0.00012
NM_001429.4(EP300):c.157T>C (p.Leu53=) rs147566983 0.00011
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.454G>A (p.Gly152Ser) rs142758675 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.3143-7T>G rs778277906 0.00010
NM_001429.4(EP300):c.5454G>C (p.Leu1818=) rs148026063 0.00010
NM_001429.4(EP300):c.6311C>G (p.Pro2104Arg) rs138584705 0.00010
NM_001429.4(EP300):c.7017C>T (p.His2339=) rs759571982 0.00010
NM_001429.4(EP300):c.7167C>T (p.Ser2389=) rs150845823 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.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.2671A>C (p.Thr891Pro) rs200499648 0.00008
NM_001429.4(EP300):c.5346C>T (p.Cys1782=) rs747513510 0.00008
NM_001429.4(EP300):c.5967G>A (p.Met1989Ile) rs763795718 0.00008
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.2245A>G (p.Met749Val) rs370478867 0.00007
NM_001429.4(EP300):c.5832C>T (p.His1944=) rs142885571 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.1540A>G (p.Met514Val) rs765266179 0.00006
NM_001429.4(EP300):c.2405C>T (p.Pro802Leu) rs749702423 0.00006
NM_001429.4(EP300):c.3377A>G (p.Asn1126Ser) rs777847755 0.00006
NM_001429.4(EP300):c.3591-19A>G rs376628079 0.00006
NM_001429.4(EP300):c.3750C>T (p.Cys1250=) rs747187417 0.00006
NM_001429.4(EP300):c.4214G>A (p.Arg1405His) rs138855106 0.00006
NM_001429.4(EP300):c.4482A>G (p.Arg1494=) rs149471059 0.00006
NM_001429.4(EP300):c.5568G>A (p.Thr1856=) rs202043101 0.00006
NM_001429.4(EP300):c.5644A>G (p.Ser1882Gly) rs769796204 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.6950G>A (p.Arg2317Gln) rs149456776 0.00006
NM_001429.4(EP300):c.7114A>G (p.Met2372Val) rs768061933 0.00006
NM_001429.4(EP300):c.1529-16T>C rs1343155056 0.00005
NM_001429.4(EP300):c.1878+13T>C rs200466416 0.00005
NM_001429.4(EP300):c.270C>T (p.Ser90=) rs367583060 0.00005
NM_001429.4(EP300):c.3617A>G (p.Asn1206Ser) rs779792116 0.00005
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.5391G>A (p.Gln1797=) rs1014464615 0.00005
NM_001429.4(EP300):c.6922C>T (p.Arg2308Cys) rs145312648 0.00005
NM_001429.4(EP300):c.1672A>G (p.Thr558Ala) rs1057519397 0.00004
NM_001429.4(EP300):c.1760+20C>T rs368767822 0.00004
NM_001429.4(EP300):c.2359G>A (p.Gly787Ser) rs564786569 0.00004
NM_001429.4(EP300):c.2367T>C (p.Ala789=) rs759989339 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.7140A>G (p.Pro2380=) rs543339090 0.00004
NM_001429.4(EP300):c.729+20G>T rs777496736 0.00004
NM_001429.4(EP300):c.781C>T (p.Pro261Ser) rs753462821 0.00004
NM_001429.4(EP300):c.1302C>T (p.Pro434=) rs199901345 0.00003
NM_001429.4(EP300):c.1528+15T>C rs200147263 0.00003
NM_001429.4(EP300):c.1627A>G (p.Met543Val) rs142823793 0.00003
NM_001429.4(EP300):c.2241G>A (p.Pro747=) rs759604286 0.00003
NM_001429.4(EP300):c.2393G>A (p.Ser798Asn) rs781326261 0.00003
NM_001429.4(EP300):c.2594C>T (p.Thr865Ile) rs754168978 0.00003
NM_001429.4(EP300):c.2744G>A (p.Arg915His) rs748820220 0.00003
NM_001429.4(EP300):c.4172+16A>G rs777335301 0.00003
NM_001429.4(EP300):c.545A>G (p.Asn182Ser) rs201487387 0.00003
NM_001429.4(EP300):c.6091C>T (p.Pro2031Ser) rs199650847 0.00003
NM_001429.4(EP300):c.6413C>T (p.Ala2138Val) rs587778258 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.726T>A (p.Leu242=) rs886057555 0.00003
NM_001429.4(EP300):c.923C>T (p.Pro308Leu) rs587778261 0.00003
NM_001429.4(EP300):c.952C>G (p.Pro318Ala) rs762647727 0.00003
NM_001429.4(EP300):c.108A>G (p.Leu36=) rs374715858 0.00002
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.1781C>T (p.Thr594Met) rs750740148 0.00002
NM_001429.4(EP300):c.1887C>T (p.Tyr629=) rs144594889 0.00002
NM_001429.4(EP300):c.1991T>C (p.Met664Thr) rs547684073 0.00002
NM_001429.4(EP300):c.2334A>G (p.Thr778=) rs374281264 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.4980G>A (p.Thr1660=) rs570470790 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.5914A>G (p.Met1972Val) rs373725137 0.00002
NM_001429.4(EP300):c.6437C>A (p.Pro2146His) rs745528077 0.00002
NM_001429.4(EP300):c.7191C>T (p.Thr2397=) rs376984096 0.00002
NM_001429.4(EP300):c.907-10T>C rs772628747 0.00002
NM_001429.4(EP300):c.1150T>G (p.Ser384Ala) rs377368037 0.00001
NM_001429.4(EP300):c.12T>C (p.Asn4=) rs758604225 0.00001
NM_001429.4(EP300):c.1303G>A (p.Val435Ile) rs779573838 0.00001
NM_001429.4(EP300):c.1316A>G (p.Asn439Ser) rs746628829 0.00001
NM_001429.4(EP300):c.1508T>C (p.Met503Thr) rs1185038602 0.00001
NM_001429.4(EP300):c.169A>G (p.Asn57Asp) rs1186074560 0.00001
NM_001429.4(EP300):c.1874A>G (p.Asn625Ser) rs775426461 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.206G>A (p.Gly69Asp) rs370355846 0.00001
NM_001429.4(EP300):c.2078T>C (p.Met693Thr) rs199636064 0.00001
NM_001429.4(EP300):c.2145T>C (p.Phe715=) rs750344330 0.00001
NM_001429.4(EP300):c.214C>A (p.Gln72Lys) rs539635560 0.00001
NM_001429.4(EP300):c.2279A>G (p.Asn760Ser) rs374502005 0.00001
NM_001429.4(EP300):c.2348C>T (p.Ala783Val) rs755619355 0.00001
NM_001429.4(EP300):c.2513G>A (p.Arg838His) rs774840930 0.00001
NM_001429.4(EP300):c.2609C>T (p.Pro870Leu) rs540935486 0.00001
NM_001429.4(EP300):c.271C>T (p.Pro91Ser) rs138538553 0.00001
NM_001429.4(EP300):c.302G>A (p.Gly101Asp) rs879722959 0.00001
NM_001429.4(EP300):c.307G>A (p.Val103Ile) rs1193355188 0.00001
NM_001429.4(EP300):c.3501+17A>G rs774004879 0.00001
NM_001429.4(EP300):c.3502-9C>A rs752128445 0.00001
NM_001429.4(EP300):c.3573T>C (p.Tyr1191=) rs565779970 0.00001
NM_001429.4(EP300):c.359G>A (p.Ser120Asn) rs1303897359 0.00001
NM_001429.4(EP300):c.3615C>G (p.Phe1205Leu) rs587778255 0.00001
NM_001429.4(EP300):c.363G>C (p.Met121Ile) rs757476470 0.00001
NM_001429.4(EP300):c.3875-8A>C rs747796024 0.00001
NM_001429.4(EP300):c.3884C>G (p.Ser1295Cys) rs772897576 0.00001
NM_001429.4(EP300):c.4339A>G (p.Ile1447Val) rs1448116681 0.00001
NM_001429.4(EP300):c.4509T>C (p.Tyr1503=) rs373428278 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.4842T>C (p.Asp1614=) rs755816596 0.00001
NM_001429.4(EP300):c.5280G>A (p.Lys1760=) rs148892028 0.00001
NM_001429.4(EP300):c.5440C>A (p.Arg1814=) rs757325753 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.6225C>T (p.His2075=) rs543501228 0.00001
NM_001429.4(EP300):c.6352A>G (p.Met2118Val) rs755381839 0.00001
NM_001429.4(EP300):c.6473T>C (p.Met2158Thr) rs778354178 0.00001
NM_001429.4(EP300):c.6488C>T (p.Pro2163Leu) rs1013716287 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.6582A>G (p.Gln2194=) rs761195313 0.00001
NM_001429.4(EP300):c.6967C>T (p.Pro2323Ser) rs201369756 0.00001
NM_001429.4(EP300):c.7139C>T (p.Pro2380Leu) rs587778259 0.00001
NM_001429.4(EP300):c.825G>A (p.Gln275=) rs149058635 0.00001
NC_000022.10:g.(?_41531797)_(41566595_?)dup
NC_000022.10:g.(?_41553153)_(41554524_?)del
NC_000022.10:g.(?_41564433)_(41566595_?)del
NC_000022.10:g.(?_41566450)_(41572658_?)del
NC_000022.11:g.(?_41131368)_(41140277_?)del
NC_000022.11:g.(?_41151813)_(41152370_?)del
NC_000022.11:g.(?_41154975)_(41164150_?)del
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.3:c.4271_4367del
NM_001429.4(EP300):c.*1083_*1085del rs561433394
NM_001429.4(EP300):c.*340dup rs561569141
NM_001429.4(EP300):c.*40_*44del rs751376755
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.*785_*786del rs886057577
NM_001429.4(EP300):c.*921dup rs1161532977
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.*926AC[18] rs59721178
NM_001429.4(EP300):c.*926AC[20] rs59721178
NM_001429.4(EP300):c.*926AC[22] rs59721178
NM_001429.4(EP300):c.*926AC[23] rs59721178
NM_001429.4(EP300):c.1044T>C (p.Ala348=)
NM_001429.4(EP300):c.1047C>T (p.His349=)
NM_001429.4(EP300):c.104C>G (p.Ser35Cys) rs2145696235
NM_001429.4(EP300):c.104_107del (p.Ser35fs) rs886037664
NM_001429.4(EP300):c.1067A>T (p.Gln356Leu)
NM_001429.4(EP300):c.1077G>A (p.Gly359=)
NM_001429.4(EP300):c.1088A>C (p.Gln363Pro)
NM_001429.4(EP300):c.108_111del (p.Phe37fs)
NM_001429.4(EP300):c.1113A>G (p.Thr371=)
NM_001429.4(EP300):c.1128A>G (p.Leu376=)
NM_001429.4(EP300):c.1143C>G (p.His381Gln) rs2145710465
NM_001429.4(EP300):c.1152A>G (p.Ser384=)
NM_001429.4(EP300):c.1155_1156del (p.Lys386fs)
NM_001429.4(EP300):c.1169-11C>G
NM_001429.4(EP300):c.1169-11C>T
NM_001429.4(EP300):c.1169-12T>C
NM_001429.4(EP300):c.1169-17T>C
NM_001429.4(EP300):c.1169-19T>A
NM_001429.4(EP300):c.1169-4T>C
NM_001429.4(EP300):c.1192C>T (p.Gln398Ter)
NM_001429.4(EP300):c.1225C>T (p.His409Tyr)
NM_001429.4(EP300):c.1226A>G (p.His409Arg)
NM_001429.4(EP300):c.1253A>G (p.Lys418Arg)
NM_001429.4(EP300):c.1282+1G>A
NM_001429.4(EP300):c.1282C>T (p.Pro428Ser)
NM_001429.4(EP300):c.1283-14T>C
NM_001429.4(EP300):c.1283-16C>T rs200548363
NM_001429.4(EP300):c.1283-19dup
NM_001429.4(EP300):c.1283-20A>G
NM_001429.4(EP300):c.1283-6C>G
NM_001429.4(EP300):c.1293T>C (p.Thr431=)
NM_001429.4(EP300):c.1304T>G (p.Val435Gly)
NM_001429.4(EP300):c.1308A>G (p.Gly436=)
NM_001429.4(EP300):c.1334T>A (p.Val445Glu)
NM_001429.4(EP300):c.1351C>G (p.Pro451Ala) rs151308825
NM_001429.4(EP300):c.1352C>A (p.Pro451His)
NM_001429.4(EP300):c.1355A>G (p.Asn452Ser)
NM_001429.4(EP300):c.1357C>G (p.Leu453Val)
NM_001429.4(EP300):c.1366G>A (p.Val456Ile)
NM_001429.4(EP300):c.1372C>G (p.Gln458Glu)
NM_001429.4(EP300):c.1374G>A (p.Gln458=)
NM_001429.4(EP300):c.1403A>T (p.Tyr468Phe) rs587778262
NM_001429.4(EP300):c.1420C>T (p.Pro474Ser)
NM_001429.4(EP300):c.1423dup (p.Tyr475fs) rs2145715677
NM_001429.4(EP300):c.1424A>G (p.Tyr475Cys)
NM_001429.4(EP300):c.1443_1444delinsAC (p.Thr482Pro)
NM_001429.4(EP300):c.1448A>T (p.Gln483Leu) rs2058919614
NM_001429.4(EP300):c.1449A>C (p.Gln483His)
NM_001429.4(EP300):c.1456G>A (p.Val486Met)
NM_001429.4(EP300):c.1456G>C (p.Val486Leu)
NM_001429.4(EP300):c.1465A>G (p.Lys489Glu)
NM_001429.4(EP300):c.1467G>T (p.Lys489Asn)
NM_001429.4(EP300):c.1478A>G (p.Asn493Ser)
NM_001429.4(EP300):c.147_156del (p.Ser50fs)
NM_001429.4(EP300):c.1504G>A (p.Gly502Ser)
NM_001429.4(EP300):c.1516A>G (p.Met506Val) rs886057556
NM_001429.4(EP300):c.151A>G (p.Thr51Ala)
NM_001429.4(EP300):c.1527G>C (p.Met509Ile)
NM_001429.4(EP300):c.1528+17C>G
NM_001429.4(EP300):c.1528+19A>G
NM_001429.4(EP300):c.1528+3_1528+10del
NM_001429.4(EP300):c.1528+9G>A
NM_001429.4(EP300):c.1529-12A>G
NM_001429.4(EP300):c.1529-19T>G
NM_001429.4(EP300):c.1529-8T>C rs587783621
NM_001429.4(EP300):c.1541T>C (p.Met514Thr) rs758573292
NM_001429.4(EP300):c.1553G>A (p.Gly518Glu)
NM_001429.4(EP300):c.1553G>C (p.Gly518Ala)
NM_001429.4(EP300):c.156A>G (p.Glu52=)
NM_001429.4(EP300):c.1571C>T (p.Thr524Met) rs1452596865
NM_001429.4(EP300):c.1572G>T (p.Thr524=)
NM_001429.4(EP300):c.1582C>T (p.Leu528Phe)
NM_001429.4(EP300):c.1585T>C (p.Ser529Pro)
NM_001429.4(EP300):c.1606_1610delinsTATGTTGAGCCATAACTGCATGTTGAGCCCA (p.Ala536_Ile537delinsTyrValGluProTer) rs1601610306
NM_001429.4(EP300):c.1609A>G (p.Ile537Val)
NM_001429.4(EP300):c.1611A>G (p.Ile537Met)
NM_001429.4(EP300):c.1622+10A>T
NM_001429.4(EP300):c.1634G>A (p.Ser545Asn) rs547550163
NM_001429.4(EP300):c.1635T>A (p.Ser545Arg)
NM_001429.4(EP300):c.1637A>C (p.Glu546Ala)
NM_001429.4(EP300):c.1642G>A (p.Ala548Thr)
NM_001429.4(EP300):c.1651C>G (p.Pro551Ala)
NM_001429.4(EP300):c.1654T>C (p.Ser552Pro) rs587778263
NM_001429.4(EP300):c.1663C>T (p.Pro555Ser)
NM_001429.4(EP300):c.1666A>G (p.Met556Val)
NM_001429.4(EP300):c.1671A>G (p.Pro557=)
NM_001429.4(EP300):c.1672A>T (p.Thr558Ser) rs1057519397
NM_001429.4(EP300):c.1673C>G (p.Thr558Arg)
NM_001429.4(EP300):c.1673C>T (p.Thr558Ile)
NM_001429.4(EP300):c.1681C>G (p.Gln561Glu)
NM_001429.4(EP300):c.1683A>G (p.Gln561=)
NM_001429.4(EP300):c.1686A>G (p.Pro562=)
NM_001429.4(EP300):c.1702C>T (p.Arg568Trp)
NM_001429.4(EP300):c.1704G>C (p.Arg568=)
NM_001429.4(EP300):c.1709A>G (p.Gln570Arg)
NM_001429.4(EP300):c.1709_1710del (p.Gln570fs)
NM_001429.4(EP300):c.170A>G (p.Asn57Ser)
NM_001429.4(EP300):c.1726A>T (p.Thr576Ser)
NM_001429.4(EP300):c.1729del (p.Gln577fs)
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter) rs137853038
NM_001429.4(EP300):c.1739G>A (p.Arg580Gln)
NM_001429.4(EP300):c.1760+11T>C
NM_001429.4(EP300):c.1760+6_1760+9del rs2145722830
NM_001429.4(EP300):c.1761-10C>G
NM_001429.4(EP300):c.1761-16G>A
NM_001429.4(EP300):c.1761C>T (p.Leu587=)
NM_001429.4(EP300):c.1785G>A (p.Pro595=)
NM_001429.4(EP300):c.1810C>T (p.Arg604Trp)
NM_001429.4(EP300):c.1814dup (p.Met605fs)
NM_001429.4(EP300):c.1830A>G (p.Ala610=)
NM_001429.4(EP300):c.1839G>A (p.Arg613=)
NM_001429.4(EP300):c.1861G>A (p.Glu621Lys) rs778829658
NM_001429.4(EP300):c.1878+19dup
NM_001429.4(EP300):c.1878+1G>A rs2058974109
NM_001429.4(EP300):c.189G>C (p.Gln63His)
NM_001429.4(EP300):c.1921C>A (p.Gln641Lys)
NM_001429.4(EP300):c.1942C>T (p.Arg648Ter) rs137853039
NM_001429.4(EP300):c.1957C>T (p.Gln653Ter) rs1601613391
NM_001429.4(EP300):c.1972C>A (p.Leu658Ile)
NM_001429.4(EP300):c.1983T>C (p.Ala661=)
NM_001429.4(EP300):c.1989C>T (p.Gly663=) rs1291428868
NM_001429.4(EP300):c.1996C>T (p.Pro666Ser)
NM_001429.4(EP300):c.2006T>A (p.Met669Lys)
NM_001429.4(EP300):c.2023A>G (p.Met675Val)
NM_001429.4(EP300):c.2034G>A (p.Pro678=)
NM_001429.4(EP300):c.2041G>A (p.Gly681Arg)
NM_001429.4(EP300):c.2052T>G (p.Ser684=)
NM_001429.4(EP300):c.2053+17A>G
NM_001429.4(EP300):c.2053+18T>C
NM_001429.4(EP300):c.2053+5G>C
NM_001429.4(EP300):c.2053+8_2053+11del
NM_001429.4(EP300):c.2054-16C>T
NM_001429.4(EP300):c.2054-19T>C
NM_001429.4(EP300):c.2064dup (p.Pro689fs) rs1601617062
NM_001429.4(EP300):c.2067T>C (p.Pro689=)
NM_001429.4(EP300):c.2077A>G (p.Met693Val)
NM_001429.4(EP300):c.208A>G (p.Met70Val)
NM_001429.4(EP300):c.2093T>C (p.Val698Ala)
NM_001429.4(EP300):c.2104A>G (p.Met702Val)
NM_001429.4(EP300):c.211G>A (p.Val71Ile)
NM_001429.4(EP300):c.2122C>A (p.Pro708Thr)
NM_001429.4(EP300):c.2131+18_2131+19inv
NM_001429.4(EP300):c.2131+24dup rs766192274
NM_001429.4(EP300):c.2132-11C>G
NM_001429.4(EP300):c.2132-15T>C
NM_001429.4(EP300):c.2132-1G>A rs2145734002
NM_001429.4(EP300):c.2132-8A>T
NM_001429.4(EP300):c.2164dup (p.Gln722fs) rs879253873
NM_001429.4(EP300):c.2167C>A (p.Pro723Thr)
NM_001429.4(EP300):c.2181C>T (p.Pro727=)
NM_001429.4(EP300):c.2183G>A (p.Arg728Gln)
NM_001429.4(EP300):c.2184G>A (p.Arg728=)
NM_001429.4(EP300):c.2184G>T (p.Arg728=)
NM_001429.4(EP300):c.2187A>G (p.Gln729=)
NM_001429.4(EP300):c.2188A>G (p.Thr730Ala)
NM_001429.4(EP300):c.2191C>T (p.Pro731Ser)
NM_001429.4(EP300):c.2203C>T (p.His735Tyr)
NM_001429.4(EP300):c.2225del (p.Pro742fs) rs2059021664
NM_001429.4(EP300):c.222A>T (p.Ala74=)
NM_001429.4(EP300):c.2237A>G (p.Asn746Ser)
NM_001429.4(EP300):c.2241+5G>C
NM_001429.4(EP300):c.2242-15T>G
NM_001429.4(EP300):c.2242-17T>G
NM_001429.4(EP300):c.2242-6_2242-4del rs747710183
NM_001429.4(EP300):c.2242-7T>C
NM_001429.4(EP300):c.2249G>A (p.Gly750Asp) rs1433543827
NM_001429.4(EP300):c.2251_2257del (p.Tyr751fs) rs1601618876
NM_001429.4(EP300):c.2254G>A (p.Gly752Arg)
NM_001429.4(EP300):c.2256G>A (p.Gly752=)
NM_001429.4(EP300):c.2261G>A (p.Arg754His) rs544338126
NM_001429.4(EP300):c.2261G>C (p.Arg754Pro)
NM_001429.4(EP300):c.2261G>T (p.Arg754Leu)
NM_001429.4(EP300):c.2279A>C (p.Asn760Thr)
NM_001429.4(EP300):c.2279A>T (p.Asn760Ile)
NM_001429.4(EP300):c.2285G>A (p.Gly762Asp)
NM_001429.4(EP300):c.2302A>G (p.Thr768Ala)
NM_001429.4(EP300):c.2313A>G (p.Pro771=)
NM_001429.4(EP300):c.231A>G (p.Lys77=)
NM_001429.4(EP300):c.2333dup (p.Asn779fs) rs2145736063
NM_001429.4(EP300):c.2379+8T>C
NM_001429.4(EP300):c.2380-19A>C
NM_001429.4(EP300):c.2380-19_2380-15del
NM_001429.4(EP300):c.2398T>G (p.Ser800Ala)
NM_001429.4(EP300):c.2452C>A (p.His818Asn)
NM_001429.4(EP300):c.2461_2470del (p.Gln821fs)
NM_001429.4(EP300):c.2462A>T (p.Gln821Leu)
NM_001429.4(EP300):c.2463G>A (p.Gln821=)
NM_001429.4(EP300):c.2504T>C (p.Val835Ala)
NM_001429.4(EP300):c.2505A>G (p.Val835=)
NM_001429.4(EP300):c.2507C>T (p.Pro836Leu)
NM_001429.4(EP300):c.2520C>T (p.Pro840=)
NM_001429.4(EP300):c.2534C>G (p.Thr845Ser)
NM_001429.4(EP300):c.2534C>T (p.Thr845Ile)
NM_001429.4(EP300):c.2537C>T (p.Pro846Leu)
NM_001429.4(EP300):c.2539C>G (p.Pro847Ala)
NM_001429.4(EP300):c.2548G>T (p.Gly850Trp)
NM_001429.4(EP300):c.2550G>T (p.Gly850=)
NM_001429.4(EP300):c.2556G>T (p.Gln852His)
NM_001429.4(EP300):c.2567CAA[2] (p.Thr858del)
NM_001429.4(EP300):c.2567CAA[4] (p.Thr858_Ile859insThr)
NM_001429.4(EP300):c.2573C>T (p.Thr858Ile)
NM_001429.4(EP300):c.257G>A (p.Arg86Gln)
NM_001429.4(EP300):c.2584C>G (p.Pro862Ala)
NM_001429.4(EP300):c.2591C>T (p.Pro864Leu)
NM_001429.4(EP300):c.2598T>A (p.Pro866=)
NM_001429.4(EP300):c.2622G>C (p.Gln874His)
NM_001429.4(EP300):c.2632C>T (p.Leu878=)
NM_001429.4(EP300):c.2636A>C (p.His879Pro)
NM_001429.4(EP300):c.2640C>G (p.Pro880=)
NM_001429.4(EP300):c.2641C>T (p.Pro881Ser)
NM_001429.4(EP300):c.2647A>G (p.Arg883Gly) rs2059034589
NM_001429.4(EP300):c.2657C>G (p.Pro886Arg)
NM_001429.4(EP300):c.2659A>G (p.Thr887Ala)
NM_001429.4(EP300):c.2660C>T (p.Thr887Ile) rs953108559
NM_001429.4(EP300):c.2676A>G (p.Gln892=)
NM_001429.4(EP300):c.268T>C (p.Ser90Pro)
NM_001429.4(EP300):c.2690T>C (p.Val897Ala)
NM_001429.4(EP300):c.2720C>T (p.Ala907Val)
NM_001429.4(EP300):c.2730C>T (p.Pro910=)
NM_001429.4(EP300):c.2734C>T (p.Gln912Ter)
NM_001429.4(EP300):c.2736G>T (p.Gln912His)
NM_001429.4(EP300):c.2743C>T (p.Arg915Cys)
NM_001429.4(EP300):c.2746T>A (p.Ser916Thr)
NM_001429.4(EP300):c.2757C>T (p.Ser919=)
NM_001429.4(EP300):c.2781A>G (p.Pro927=)
NM_001429.4(EP300):c.2789C>T (p.Pro930Leu)
NM_001429.4(EP300):c.2790G>A (p.Pro930=)
NM_001429.4(EP300):c.2801C>T (p.Pro934Leu)
NM_001429.4(EP300):c.2802G>T (p.Pro934=)
NM_001429.4(EP300):c.2805G>A (p.Gln935=)
NM_001429.4(EP300):c.286G>A (p.Gly96Arg)
NM_001429.4(EP300):c.287G>A (p.Gly96Glu)
NM_001429.4(EP300):c.28C>T (p.Pro10Ser) rs2145665490
NM_001429.4(EP300):c.301G>A (p.Gly101Ser) rs762557708
NM_001429.4(EP300):c.3143-12T>C
NM_001429.4(EP300):c.3143-15C>A
NM_001429.4(EP300):c.3143-19T>G
NM_001429.4(EP300):c.3143-3A>T rs749597275
NM_001429.4(EP300):c.3143-4del rs757931697
NM_001429.4(EP300):c.3143-4dup rs757931697
NM_001429.4(EP300):c.3143-5_3143-4dup rs757931697
NM_001429.4(EP300):c.3143-6_3143-4dup
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.3166C>T (p.Gln1056Ter) rs1601623271
NM_001429.4(EP300):c.3178C>T (p.Pro1060Ser) rs2059069019
NM_001429.4(EP300):c.31C>T (p.Pro11Ser)
NM_001429.4(EP300):c.320A>G (p.Gln107Arg)
NM_001429.4(EP300):c.3216C>T (p.Ser1072=)
NM_001429.4(EP300):c.3258C>A (p.Ile1086=)
NM_001429.4(EP300):c.3261+10T>C
NM_001429.4(EP300):c.3261+11G>A
NM_001429.4(EP300):c.3261+14G>A
NM_001429.4(EP300):c.3261+3A>G
NM_001429.4(EP300):c.3261+8T>G
NM_001429.4(EP300):c.3262-13C>T
NM_001429.4(EP300):c.3262-2A>G rs1555910114
NM_001429.4(EP300):c.3262-9T>C
NM_001429.4(EP300):c.3282G>A (p.Lys1094=)
NM_001429.4(EP300):c.3285C>T (p.Ser1095=) rs971045982
NM_001429.4(EP300):c.3310A>G (p.Arg1104Gly)
NM_001429.4(EP300):c.332G>A (p.Ser111Asn) rs2145696782
NM_001429.4(EP300):c.3352G>A (p.Val1118Ile)
NM_001429.4(EP300):c.3354C>T (p.Val1118=) rs11704815
NM_001429.4(EP300):c.3357T>C (p.Asp1119=)
NM_001429.4(EP300):c.3367del (p.Met1124fs) rs1601624722
NM_001429.4(EP300):c.3375C>G (p.Phe1125Leu)
NM_001429.4(EP300):c.3384C>T (p.Ala1128=)
NM_001429.4(EP300):c.338C>T (p.Pro113Leu)
NM_001429.4(EP300):c.3397C>T (p.Arg1133Trp)
NM_001429.4(EP300):c.33T>A (p.Pro11=)
NM_001429.4(EP300):c.3410G>A (p.Arg1137Gln)
NM_001429.4(EP300):c.3417C>T (p.Tyr1139=) rs952398016
NM_001429.4(EP300):c.342A>G (p.Gly114=)
NM_001429.4(EP300):c.3438_3439del (p.Glu1147fs) rs1601624754
NM_001429.4(EP300):c.3447T>C (p.Phe1149=)
NM_001429.4(EP300):c.3458T>A (p.Ile1153Asn)
NM_001429.4(EP300):c.3464C>T (p.Pro1155Leu)
NM_001429.4(EP300):c.346G>A (p.Gly116Ser)
NM_001429.4(EP300):c.3485dup (p.Tyr1162Ter) rs1601624790
NM_001429.4(EP300):c.3502-17A>C
NM_001429.4(EP300):c.3534C>T (p.Tyr1178=)
NM_001429.4(EP300):c.3553A>G (p.Ile1185Val)
NM_001429.4(EP300):c.3568A>G (p.Thr1190Ala)
NM_001429.4(EP300):c.3573T>A (p.Tyr1191Ter) rs565779970
NM_001429.4(EP300):c.3589A>T (p.Arg1197Trp) rs1340981566
NM_001429.4(EP300):c.3590+4A>T
NM_001429.4(EP300):c.3591-5G>A
NM_001429.4(EP300):c.3592T>C (p.Tyr1198His) rs1305375514
NM_001429.4(EP300):c.3624C>A (p.Ile1208=) rs143660871
NM_001429.4(EP300):c.3624C>G (p.Ile1208Met) rs143660871
NM_001429.4(EP300):c.3624C>T (p.Ile1208=) rs143660871
NM_001429.4(EP300):c.3625C>G (p.Gln1209Glu)
NM_001429.4(EP300):c.3636C>T (p.Ser1212=)
NM_001429.4(EP300):c.3644del (p.Leu1215fs)
NM_001429.4(EP300):c.3644dup (p.Leu1215fs)
NM_001429.4(EP300):c.3659C>G (p.Ser1220Cys)
NM_001429.4(EP300):c.3660C>G (p.Ser1220=)
NM_001429.4(EP300):c.3665C>A (p.Pro1222His) rs7285319
NM_001429.4(EP300):c.3669A>C (p.Gln1223His)
NM_001429.4(EP300):c.3671+16A>C
NM_001429.4(EP300):c.3671+1G>A rs2059103511
NM_001429.4(EP300):c.3671+5G>C
NM_001429.4(EP300):c.3671+5_3671+7dup
NM_001429.4(EP300):c.3672-9T>C
NM_001429.4(EP300):c.3672_3673dup (p.Thr1225fs)
NM_001429.4(EP300):c.3675A>G (p.Thr1225=)
NM_001429.4(EP300):c.3684_3687del (p.Lys1228fs) rs1555910482
NM_001429.4(EP300):c.3684del (p.Glu1229fs) rs2145754777
NM_001429.4(EP300):c.3686A>G (p.Glu1229Gly)
NM_001429.4(EP300):c.3690A>G (p.Gln1230=)
NM_001429.4(EP300):c.3694T>A (p.Ser1232Thr)
NM_001429.4(EP300):c.369_370dup (p.Ser124fs)
NM_001429.4(EP300):c.3704A>G (p.Lys1235Arg)
NM_001429.4(EP300):c.3707dup (p.Asn1236fs) rs1601628237
NM_001429.4(EP300):c.3711C>T (p.Asp1237=)
NM_001429.4(EP300):c.3728+13C>T
NM_001429.4(EP300):c.3728+5G>C rs1114167305
NM_001429.4(EP300):c.3728+8C>T
NM_001429.4(EP300):c.3728+9G>A
NM_001429.4(EP300):c.3728T>A (p.Leu1243Gln)
NM_001429.4(EP300):c.3729-19A>G
NM_001429.4(EP300):c.3729-1G>T rs2145756375
NM_001429.4(EP300):c.3729-6T>C
NM_001429.4(EP300):c.3729-8T>C
NM_001429.4(EP300):c.372C>T (p.Ser124=)
NM_001429.4(EP300):c.3731TTG[1] (p.Val1245del) rs1555910602
NM_001429.4(EP300):c.3733del (p.Val1245fs)
NM_001429.4(EP300):c.373C>A (p.Pro125Thr)
NM_001429.4(EP300):c.3746A>G (p.Glu1249Gly)
NM_001429.4(EP300):c.3749G>A (p.Cys1250Tyr) rs1601629319
NM_001429.4(EP300):c.3750C>G (p.Cys1250Trp) rs747187417
NM_001429.4(EP300):c.3751G>A (p.Gly1251Arg)
NM_001429.4(EP300):c.3752G>A (p.Gly1251Glu)
NM_001429.4(EP300):c.3778C>T (p.Leu1260Phe)
NM_001429.4(EP300):c.3790A>C (p.Ile1264Leu)
NM_001429.4(EP300):c.3800CTG[1] (p.Ala1268del)
NM_001429.4(EP300):c.3802G>T (p.Ala1268Ser)
NM_001429.4(EP300):c.3806+11A>G
NM_001429.4(EP300):c.3806+12C>T
NM_001429.4(EP300):c.3806+13G>A
NM_001429.4(EP300):c.3806+3A>G rs1601629363
NM_001429.4(EP300):c.3807-12G>A
NM_001429.4(EP300):c.3807-15_3807-14del
NM_001429.4(EP300):c.3807-7C>T
NM_001429.4(EP300):c.3810C>T (p.Phe1270=)
NM_001429.4(EP300):c.3811G>A (p.Val1271Ile)
NM_001429.4(EP300):c.3815G>C (p.Cys1272Ser)
NM_001429.4(EP300):c.3819T>C (p.Asp1273=)
NM_001429.4(EP300):c.3826_3827dup (p.Leu1276fs) rs2145759333
NM_001429.4(EP300):c.3827T>C (p.Leu1276Ser)
NM_001429.4(EP300):c.3838G>T (p.Ala1280Ser) rs2059136013
NM_001429.4(EP300):c.383A>T (p.Gln128Leu)
NM_001429.4(EP300):c.3858_3859dup (p.Lys1287fs)
NM_001429.4(EP300):c.3870T>C (p.Ala1290=)
NM_001429.4(EP300):c.3872A>C (p.Lys1291Thr)
NM_001429.4(EP300):c.3874+13C>T
NM_001429.4(EP300):c.3875-19_3875-18del
NM_001429.4(EP300):c.3893T>G (p.Leu1298Arg) rs2145762737
NM_001429.4(EP300):c.3905dup (p.Glu1303fs) rs2059152743
NM_001429.4(EP300):c.390C>T (p.Gly130=)
NM_001429.4(EP300):c.3935G>A (p.Arg1312Gln)
NM_001429.4(EP300):c.3936A>T (p.Arg1312=)
NM_001429.4(EP300):c.3984T>C (p.Ala1328=)
NM_001429.4(EP300):c.3996C>G (p.Thr1332=)
NM_001429.4(EP300):c.3996C>T (p.Thr1332=) rs142288817
NM_001429.4(EP300):c.4005A>G (p.Val1335=) rs1462493430
NM_001429.4(EP300):c.4009C>T (p.Pro1337Ser) rs2145762914
NM_001429.4(EP300):c.4019A>G (p.Lys1340Arg)
NM_001429.4(EP300):c.4020A>T (p.Lys1340Asn)
NM_001429.4(EP300):c.4025+12T>A
NM_001429.4(EP300):c.4026-11C>T
NM_001429.4(EP300):c.4026-12T>G
NM_001429.4(EP300):c.4026-9A>G rs2059153923
NM_001429.4(EP300):c.4044G>T (p.Glu1348Asp)
NM_001429.4(EP300):c.4065C>G (p.Tyr1355Ter) rs886043598
NM_001429.4(EP300):c.4065C>T (p.Tyr1355=)
NM_001429.4(EP300):c.4066C>T (p.Arg1356Ter) rs1440862488
NM_001429.4(EP300):c.4067G>C (p.Arg1356Pro)
NM_001429.4(EP300):c.4070C>A (p.Thr1357Asn)
NM_001429.4(EP300):c.4073_4074dup (p.Ala1359fs) rs2059154269
NM_001429.4(EP300):c.4080C>T (p.Leu1360=)
NM_001429.4(EP300):c.4086C>A (p.Ala1362=)
NM_001429.4(EP300):c.4096A>G (p.Ile1366Val)
NM_001429.4(EP300):c.4107T>G (p.Val1369=)
NM_001429.4(EP300):c.410G>C (p.Gly137Ala)
NM_001429.4(EP300):c.4124G>T (p.Gly1375Val)
NM_001429.4(EP300):c.4131T>C (p.His1377=)
NM_001429.4(EP300):c.4149T>C (p.Ser1383=)
NM_001429.4(EP300):c.4155C>T (p.Cys1385=)
NM_001429.4(EP300):c.4172+11C>T
NM_001429.4(EP300):c.4172+16A>C
NM_001429.4(EP300):c.4172+5del
NM_001429.4(EP300):c.4172+7C>T
NM_001429.4(EP300):c.4173-15C>G
NM_001429.4(EP300):c.4173-17C>A
NM_001429.4(EP300):c.4173-17_4173-8del
NM_001429.4(EP300):c.4173-4A>G
NM_001429.4(EP300):c.4173-6G>A rs753407510
NM_001429.4(EP300):c.4173G>C (p.Arg1391Ser) rs1464734494
NM_001429.4(EP300):c.4186T>C (p.Ser1396Pro)
NM_001429.4(EP300):c.4188T>A (p.Ser1396=)
NM_001429.4(EP300):c.4191C>T (p.Tyr1397=)
NM_001429.4(EP300):c.4216_4219dup (p.Lys1407delinsThrTer) rs2145765098
NM_001429.4(EP300):c.4221A>G (p.Lys1407=)
NM_001429.4(EP300):c.4232C>T (p.Thr1411Ile) rs1601633708
NM_001429.4(EP300):c.4236A>G (p.Ala1412=)
NM_001429.4(EP300):c.4246G>C (p.Glu1416Gln)
NM_001429.4(EP300):c.4252C>T (p.Leu1418=)
NM_001429.4(EP300):c.4256T>C (p.Ile1419Thr)
NM_001429.4(EP300):c.4265T>C (p.Leu1422Ser)
NM_001429.4(EP300):c.4287-1G>T
NM_001429.4(EP300):c.4287-20C>G
NM_001429.4(EP300):c.4318C>A (p.Pro1440Thr)
NM_001429.4(EP300):c.4331A>G (p.Asp1444Gly) rs1569117388
NM_001429.4(EP300):c.4340T>G (p.Ile1447Ser) rs2145766562
NM_001429.4(EP300):c.4353T>C (p.His1451=)
NM_001429.4(EP300):c.4357C>A (p.Pro1453Thr)
NM_001429.4(EP300):c.4360G>C (p.Asp1454His)
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.4377G>A (p.Lys1459=)
NM_001429.4(EP300):c.437G>A (p.Gly146Asp)
NM_001429.4(EP300):c.4390C>T (p.Gln1464Ter) rs1601634247
NM_001429.4(EP300):c.4408dup (p.Met1470fs)
NM_001429.4(EP300):c.442A>G (p.Thr148Ala)
NM_001429.4(EP300):c.4432C>T (p.Arg1478Cys) rs1445337631
NM_001429.4(EP300):c.4433G>A (p.Arg1478His)
NM_001429.4(EP300):c.4438G>A (p.Val1480Ile)
NM_001429.4(EP300):c.443C>T (p.Thr148Met)
NM_001429.4(EP300):c.4444_4445dup (p.Asp1482fs)
NM_001429.4(EP300):c.4448A>G (p.Tyr1483Cys)
NM_001429.4(EP300):c.444G>C (p.Thr148=) rs376779611
NM_001429.4(EP300):c.4452+10G>C
NM_001429.4(EP300):c.4452+18G>A rs548353389
NM_001429.4(EP300):c.4452+20_4452+21delinsTT
NM_001429.4(EP300):c.4452+5G>T rs1555911334
NM_001429.4(EP300):c.4452+8G>A
NM_001429.4(EP300):c.4453-6T>C
NM_001429.4(EP300):c.4453G>T (p.Asp1485Tyr) rs2145769934
NM_001429.4(EP300):c.4455T>C (p.Asp1485=)
NM_001429.4(EP300):c.4465C>T (p.Gln1489Ter)
NM_001429.4(EP300):c.4480A>G (p.Arg1494Gly)
NM_001429.4(EP300):c.448_449delinsCT (p.Ser150Leu)
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
NM_001429.4(EP300):c.4507T>C (p.Tyr1503His)
NM_001429.4(EP300):c.4511T>G (p.Phe1504Cys) rs1114167306
NM_001429.4(EP300):c.4512C>T (p.Phe1504=)
NM_001429.4(EP300):c.4513G>T (p.Glu1505Ter)
NM_001429.4(EP300):c.4529C>G (p.Pro1510Arg) rs1569118503
NM_001429.4(EP300):c.4532A>T (p.Asn1511Ile)
NM_001429.4(EP300):c.4564_4572del (p.Gln1522_Glu1524del)
NM_001429.4(EP300):c.457A>G (p.Met153Val)
NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter) rs1569118537
NM_001429.4(EP300):c.458T>C (p.Met153Thr)
NM_001429.4(EP300):c.4595del (p.Asn1532fs)
NM_001429.4(EP300):c.4602C>T (p.Ser1534=)
NM_001429.4(EP300):c.4611C>A (p.Ser1537Arg)
NM_001429.4(EP300):c.4613C>A (p.Thr1538Lys)
NM_001429.4(EP300):c.4617+10T>C
NM_001429.4(EP300):c.4617+13A>G
NM_001429.4(EP300):c.4617+17dup
NM_001429.4(EP300):c.4617+18C>T
NM_001429.4(EP300):c.4617+5G>A
NM_001429.4(EP300):c.4617+9A>C
NM_001429.4(EP300):c.4618-18_4618-17delinsTC
NM_001429.4(EP300):c.4618-19C>T
NM_001429.4(EP300):c.4618-9A>G
NM_001429.4(EP300):c.4623C>T (p.Thr1541=)
NM_001429.4(EP300):c.4653G>T (p.Lys1551Asn)
NM_001429.4(EP300):c.4668C>T (p.Thr1556=)
NM_001429.4(EP300):c.4687C>G (p.Leu1563Val)
NM_001429.4(EP300):c.4687C>T (p.Leu1563=) rs564848230
NM_001429.4(EP300):c.4692dup (p.Arg1565Ter) rs1601636935
NM_001429.4(EP300):c.4723A>G (p.Asn1575Asp)
NM_001429.4(EP300):c.4735G>T (p.Asp1579Tyr)
NM_001429.4(EP300):c.4740C>T (p.Leu1580=)
NM_001429.4(EP300):c.4755T>C (p.Tyr1585=)
NM_001429.4(EP300):c.4756G>T (p.Ala1586Ser) rs1480723806
NM_001429.4(EP300):c.4763T>C (p.Met1588Thr) rs1057521737
NM_001429.4(EP300):c.4779+16C>A
NM_001429.4(EP300):c.4779+5G>T
NM_001429.4(EP300):c.4780-11_4780-8del rs748277415
NM_001429.4(EP300):c.4780-12T>A
NM_001429.4(EP300):c.4780-14T>G
NM_001429.4(EP300):c.4780-21_4780-18del rs2059199595
NM_001429.4(EP300):c.4782C>T (p.Val1594=)
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001429.4(EP300):c.4785del (p.Phe1596fs) rs2145512052
NM_001429.4(EP300):c.4798C>G (p.Leu1600Val) rs140154690
NM_001429.4(EP300):c.4817C>T (p.Ala1606Val)
NM_001429.4(EP300):c.4824C>G (p.Ser1608=) rs199994113
NM_001429.4(EP300):c.4826_4833dup (p.Ile1612fs) rs2145512343
NM_001429.4(EP300):c.4828C>T (p.Pro1610Ser)
NM_001429.4(EP300):c.4829C>T (p.Pro1610Leu)
NM_001429.4(EP300):c.4836dup (p.Val1613fs) rs797045559
NM_001429.4(EP300):c.4845T>G (p.Pro1615=)
NM_001429.4(EP300):c.4857C>G (p.Ile1619Met)
NM_001429.4(EP300):c.4863C>T (p.Cys1621=)
NM_001429.4(EP300):c.4873del (p.Asp1625fs) rs2145512676
NM_001429.4(EP300):c.4879C>T (p.Arg1627Trp)
NM_001429.4(EP300):c.487A>G (p.Met163Val)
NM_001429.4(EP300):c.4880G>A (p.Arg1627Gln)
NM_001429.4(EP300):c.4884T>C (p.Asp1628=)
NM_001429.4(EP300):c.4887G>A (p.Ala1629=)
NM_001429.4(EP300):c.4920G>A (p.Glu1640=)
NM_001429.4(EP300):c.4923C>G (p.Phe1641Leu)
NM_001429.4(EP300):c.4933C>T (p.Arg1645Ter) rs139310551
NM_001429.4(EP300):c.4934_4939del (p.Arg1645_Ala1647delinsPro)
NM_001429.4(EP300):c.4947dup (p.Ser1650fs)
NM_001429.4(EP300):c.494T>C (p.Met165Thr)
NM_001429.4(EP300):c.494_497del (p.Met165fs) rs1601598354
NM_001429.4(EP300):c.4954_4957dup (p.Cys1653fs) rs1555912040
NM_001429.4(EP300):c.4960A>C (p.Met1654Leu)
NM_001429.4(EP300):c.4960A>G (p.Met1654Val)
NM_001429.4(EP300):c.4971G>A (p.Glu1657=)
NM_001429.4(EP300):c.498C>T (p.Asn166=) rs2058828603
NM_001429.4(EP300):c.4994G>A (p.Arg1665His) rs1601639332
NM_001429.4(EP300):c.5001del (p.Tyr1668fs)
NM_001429.4(EP300):c.5007C>G (p.Thr1669=)
NM_001429.4(EP300):c.5016A>G (p.Glu1672=)
NM_001429.4(EP300):c.5031G>A (p.Val1677=)
NM_001429.4(EP300):c.5053G>C (p.Val1685Leu)
NM_001429.4(EP300):c.5054T>C (p.Val1685Ala)
NM_001429.4(EP300):c.5061+14T>C
NM_001429.4(EP300):c.5062-15C>T
NM_001429.4(EP300):c.5062-18C>T
NM_001429.4(EP300):c.5062-20A>C
NM_001429.4(EP300):c.5062-3T>C
NM_001429.4(EP300):c.5062-5C>T rs1601639609
NM_001429.4(EP300):c.5062-6C>T
NM_001429.4(EP300):c.5076T>C (p.Cys1692=)
NM_001429.4(EP300):c.5088T>C (p.Tyr1696=)
NM_001429.4(EP300):c.5092A>T (p.Thr1698Ser) rs549834848
NM_001429.4(EP300):c.5100C>T (p.Asn1700=)
NM_001429.4(EP300):c.5122C>T (p.Leu1708=)
NM_001429.4(EP300):c.512C>T (p.Ala171Val)
NM_001429.4(EP300):c.5153A>T (p.Asn1718Ile)
NM_001429.4(EP300):c.5154C>T (p.Asn1718=)
NM_001429.4(EP300):c.5169C>T (p.Ala1723=)
NM_001429.4(EP300):c.5210G>A (p.Arg1737His)
NM_001429.4(EP300):c.521A>G (p.Asn174Ser)
NM_001429.4(EP300):c.5231A>G (p.His1744Arg)
NM_001429.4(EP300):c.5245C>T (p.Arg1749Trp) rs2145515250
NM_001429.4(EP300):c.5249A>G (p.Asn1750Ser) rs2145515265
NM_001429.4(EP300):c.524C>T (p.Pro175Leu)
NM_001429.4(EP300):c.5268A>G (p.Pro1756=)
NM_001429.4(EP300):c.5288G>A (p.Arg1763Gln)
NM_001429.4(EP300):c.529A>G (p.Met177Val)
NM_001429.4(EP300):c.5313C>T (p.Cys1771=)
NM_001429.4(EP300):c.5327A>G (p.Asn1776Ser)
NM_001429.4(EP300):c.532T>C (p.Leu178=)
NM_001429.4(EP300):c.5331C>G (p.Gly1777=)
NM_001429.4(EP300):c.5331C>T (p.Gly1777=)
NM_001429.4(EP300):c.5332G>A (p.Gly1778Arg)
NM_001429.4(EP300):c.5366GCT[1] (p.Cys1790del)
NM_001429.4(EP300):c.5388C>T (p.Cys1796=)
NM_001429.4(EP300):c.5397C>T (p.Asn1799=)
NM_001429.4(EP300):c.5406G>A (p.Pro1802=)
NM_001429.4(EP300):c.5411C>T (p.Pro1804Leu)
NM_001429.4(EP300):c.5412G>A (p.Pro1804=)
NM_001429.4(EP300):c.5422A>C (p.Asn1808His) rs1569120861
NM_001429.4(EP300):c.5441G>T (p.Arg1814Leu)
NM_001429.4(EP300):c.5442G>A (p.Arg1814=)
NM_001429.4(EP300):c.546T>C (p.Asn182=)
NM_001429.4(EP300):c.5472G>C (p.Gln1824His)
NM_001429.4(EP300):c.5486G>C (p.Arg1829Pro) rs2145516079
NM_001429.4(EP300):c.5492G>C (p.Arg1831Thr) rs1601639958
NM_001429.4(EP300):c.5493G>A (p.Arg1831=)
NM_001429.4(EP300):c.5493G>C (p.Arg1831Ser) rs1379274045
NM_001429.4(EP300):c.5509C>T (p.Arg1837Trp) rs1439243688
NM_001429.4(EP300):c.5510G>A (p.Arg1837Gln) rs755471385
NM_001429.4(EP300):c.5519T>G (p.Val1840Gly)
NM_001429.4(EP300):c.5526G>T (p.Gly1842=)
NM_001429.4(EP300):c.5527dup (p.Gln1843fs)
NM_001429.4(EP300):c.5532A>C (p.Gln1844His)
NM_001429.4(EP300):c.5532A>G (p.Gln1844=)
NM_001429.4(EP300):c.5546C>T (p.Ser1849Phe)
NM_001429.4(EP300):c.5547C>T (p.Ser1849=)
NM_001429.4(EP300):c.5550C>G (p.Pro1850=)
NM_001429.4(EP300):c.5556_5564del (p.Ala1853_Pro1855del) rs1555912151
NM_001429.4(EP300):c.5558C>G (p.Ala1853Gly)
NM_001429.4(EP300):c.5559C>A (p.Ala1853=)
NM_001429.4(EP300):c.5560A>C (p.Thr1854Pro)
NM_001429.4(EP300):c.5567C>T (p.Thr1856Met)
NM_001429.4(EP300):c.5578_5584del (p.Gly1860fs) rs1601640102
NM_001429.4(EP300):c.5586del (p.Gln1862fs)
NM_001429.4(EP300):c.5587C>G (p.Pro1863Ala)
NM_001429.4(EP300):c.5597C>T (p.Pro1866Leu)
NM_001429.4(EP300):c.5602A>T (p.Thr1868Ser)
NM_001429.4(EP300):c.5620CAGCCT[1] (p.1874QP[1])
NM_001429.4(EP300):c.5623C>T (p.Pro1875Ser)
NM_001429.4(EP300):c.5634C>T (p.Thr1878=)
NM_001429.4(EP300):c.5664C>G (p.Pro1888=)
NM_001429.4(EP300):c.5665A>G (p.Arg1889Gly)
NM_001429.4(EP300):c.5669C>G (p.Thr1890Ser) rs146165770
NM_001429.4(EP300):c.5669C>T (p.Thr1890Ile)
NM_001429.4(EP300):c.5674G>A (p.Ala1892Thr)
NM_001429.4(EP300):c.5678C>T (p.Ala1893Val)
NM_001429.4(EP300):c.5682C>T (p.Gly1894=)
NM_001429.4(EP300):c.5685T>C (p.Pro1895=)
NM_001429.4(EP300):c.5688_5689del (p.Ser1897fs)
NM_001429.4(EP300):c.5705C>T (p.Ala1902Val)
NM_001429.4(EP300):c.5713G>A (p.Val1905Met)
NM_001429.4(EP300):c.5718C>T (p.Thr1906=)
NM_001429.4(EP300):c.5719C>T (p.Pro1907Ser)
NM_001429.4(EP300):c.5723dup (p.Thr1909fs) rs1555912182
NM_001429.4(EP300):c.5727C>T (p.Thr1909=)
NM_001429.4(EP300):c.5729CTC[1] (p.Pro1911del)
NM_001429.4(EP300):c.5737A>C (p.Thr1913Pro)
NM_001429.4(EP300):c.5747dup (p.Pro1917fs) rs1601640370
NM_001429.4(EP300):c.5759G>T (p.Gly1920Val)
NM_001429.4(EP300):c.5784G>C (p.Met1928Ile)
NM_001429.4(EP300):c.5796T>A (p.Ile1932=)
NM_001429.4(EP300):c.5807C>T (p.Ala1936Val) rs1301825643
NM_001429.4(EP300):c.5826_5843del (p.Met1942_Phe1948delinsIle)
NM_001429.4(EP300):c.5838A>G (p.Gln1946=)
NM_001429.4(EP300):c.5839A>G (p.Ile1947Val) rs977251718
NM_001429.4(EP300):c.5840_5848del (p.Ile1947_Gln1949del) rs1171171784
NM_001429.4(EP300):c.584C>A (p.Ser195Ter) rs2058829252
NM_001429.4(EP300):c.5854A>G (p.Ile1952Val)
NM_001429.4(EP300):c.5858A>G (p.Gln1953Arg)
NM_001429.4(EP300):c.5866A>G (p.Met1956Val)
NM_001429.4(EP300):c.5873C>T (p.Pro1958Leu)
NM_001429.4(EP300):c.5874G>A (p.Pro1958=)
NM_001429.4(EP300):c.5874G>T (p.Pro1958=)
NM_001429.4(EP300):c.5880dup (p.Pro1961fs)
NM_001429.4(EP300):c.5888C>A (p.Ala1963Asp)
NM_001429.4(EP300):c.5894dup (p.Met1965fs)
NM_001429.4(EP300):c.5897del (p.Gly1966fs)
NM_001429.4(EP300):c.5911C>T (p.Pro1971Ser)
NM_001429.4(EP300):c.5934G>A (p.Gly1978=)
NM_001429.4(EP300):c.5943G>T (p.Glu1981Asp)
NM_001429.4(EP300):c.5957C>A (p.Pro1986Gln)
NM_001429.4(EP300):c.5958G>A (p.Pro1986=)
NM_001429.4(EP300):c.5961_5962del (p.Gly1988fs)
NM_001429.4(EP300):c.596G>C (p.Gly199Ala)
NM_001429.4(EP300):c.5979A>G (p.Pro1993=)
NM_001429.4(EP300):c.598C>T (p.Arg200Ter) rs769721953
NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser) rs1210404526
NM_001429.4(EP300):c.6015A>G (p.Gln2005=)
NM_001429.4(EP300):c.6015_6028del (p.Gln2005fs) rs2059210417
NM_001429.4(EP300):c.6034A>G (p.Arg2012Gly)
NM_001429.4(EP300):c.6036G>A (p.Arg2012=)
NM_001429.4(EP300):c.6045G>A (p.Met2015Ile)
NM_001429.4(EP300):c.6045G>T (p.Met2015Ile)
NM_001429.4(EP300):c.605G>A (p.Arg202Gln)
NM_001429.4(EP300):c.6090A>G (p.Gln2030=)
NM_001429.4(EP300):c.6091C>G (p.Pro2031Ala)
NM_001429.4(EP300):c.6092C>T (p.Pro2031Leu)
NM_001429.4(EP300):c.6101del (p.Gly2034fs) rs2145519321
NM_001429.4(EP300):c.6105G>A (p.Gln2035=)
NM_001429.4(EP300):c.6108A>T (p.Val2036=)
NM_001429.4(EP300):c.6112A>G (p.Ile2038Val)
NM_001429.4(EP300):c.6121_6124del (p.Leu2041fs) rs2059211409
NM_001429.4(EP300):c.6128C>A (p.Pro2043Gln)
NM_001429.4(EP300):c.6131G>A (p.Gly2044Asp)
NM_001429.4(EP300):c.613A>G (p.Met205Val)
NM_001429.4(EP300):c.6142CAA[1] (p.Gln2049del)
NM_001429.4(EP300):c.6144A>G (p.Gln2048=)
NM_001429.4(EP300):c.6148G>C (p.Ala2050Pro)
NM_001429.4(EP300):c.6149C>G (p.Ala2050Gly)
NM_001429.4(EP300):c.615G>T (p.Met205Ile)
NM_001429.4(EP300):c.6160C>A (p.Leu2054Ile)
NM_001429.4(EP300):c.6163T>C (p.Leu2055=)
NM_001429.4(EP300):c.6165G>A (p.Leu2055=)
NM_001429.4(EP300):c.6166C>T (p.Arg2056Trp)
NM_001429.4(EP300):c.6181C>T (p.Pro2061Ser)
NM_001429.4(EP300):c.6183C>T (p.Pro2061=) rs2059211875
NM_001429.4(EP300):c.6192C>A (p.Pro2064=)
NM_001429.4(EP300):c.6193C>T (p.Leu2065=)
NM_001429.4(EP300):c.6195G>A (p.Leu2065=)
NM_001429.4(EP300):c.6196C>T (p.Gln2066Ter) rs1555912238
NM_001429.4(EP300):c.6204A>C (p.Gln2068His)
NM_001429.4(EP300):c.6204A>G (p.Gln2068=)
NM_001429.4(EP300):c.6240G>A (p.Leu2080=)
NM_001429.4(EP300):c.6240G>C (p.Leu2080=)
NM_001429.4(EP300):c.6245C>G (p.Ala2082Gly)
NM_001429.4(EP300):c.6252C>T (p.Phe2084=)
NM_001429.4(EP300):c.6262C>T (p.Arg2088Trp) rs201569846
NM_001429.4(EP300):c.6279C>T (p.Ala2093=)
NM_001429.4(EP300):c.6287A>G (p.Asn2096Ser) rs1762014323
NM_001429.4(EP300):c.6288T>G (p.Asn2096Lys)
NM_001429.4(EP300):c.6298_6317del (p.Ile2100fs)
NM_001429.4(EP300):c.6300C>T (p.Ile2100=)
NM_001429.4(EP300):c.6303_6323del (p.Met2106_Gly2112del)
NM_001429.4(EP300):c.6312_6332del (p.Met2106_Gly2112del) rs755425119
NM_001429.4(EP300):c.6323A>C (p.Gln2108Pro)
NM_001429.4(EP300):c.6323del (p.Gln2108fs)
NM_001429.4(EP300):c.6344C>T (p.Pro2115Leu)
NM_001429.4(EP300):c.6350C>T (p.Thr2117Ile) rs2059213237
NM_001429.4(EP300):c.6351C>T (p.Thr2117=)
NM_001429.4(EP300):c.6366G>T (p.Gln2122His)
NM_001429.4(EP300):c.6374A>G (p.His2125Arg) rs886057568
NM_001429.4(EP300):c.6378C>T (p.Ser2126=)
NM_001429.4(EP300):c.6382C>G (p.Pro2128Ala)
NM_001429.4(EP300):c.638del (p.Gly213fs) rs1569090642
NM_001429.4(EP300):c.6394A>G (p.Asn2132Asp)
NM_001429.4(EP300):c.6395A>T (p.Asn2132Ile) rs886057569
NM_001429.4(EP300):c.6398T>C (p.Met2133Thr)
NM_001429.4(EP300):c.639A>T (p.Gly213=)
NM_001429.4(EP300):c.6402T>G (p.Asn2134Lys)
NM_001429.4(EP300):c.6414G>T (p.Ala2138=) rs374679651
NM_001429.4(EP300):c.6418G>A (p.Val2140Ile)
NM_001429.4(EP300):c.6425G>A (p.Arg2142Lys)
NM_001429.4(EP300):c.6435_6446dup (p.Gln2153_Leu2154insProGlnGlnGln)
NM_001429.4(EP300):c.6444G>A (p.Gln2148=)
NM_001429.4(EP300):c.6446A>G (p.Gln2149Arg)
NM_001429.4(EP300):c.6447A>G (p.Gln2149=)
NM_001429.4(EP300):c.6448C>A (p.Pro2150Thr)
NM_001429.4(EP300):c.6449_6460del (p.2146PQQQ[1]) rs758586599
NM_001429.4(EP300):c.6454C>T (p.Gln2152Ter)
NM_001429.4(EP300):c.6455_6466dup (p.Gln2155_Pro2156insGlnGlnLeuGln)
NM_001429.4(EP300):c.6467C>T (p.Pro2156Leu)
NM_001429.4(EP300):c.6468A>C (p.Pro2156=)
NM_001429.4(EP300):c.6472A>G (p.Met2158Val)
NM_001429.4(EP300):c.6489C>G (p.Pro2163=)
NM_001429.4(EP300):c.6494C>T (p.Ala2165Val)
NM_001429.4(EP300):c.6504G>A (p.Met2168Ile) rs566357328
NM_001429.4(EP300):c.6508A>G (p.Met2170Val)
NM_001429.4(EP300):c.6509T>C (p.Met2170Thr)
NM_001429.4(EP300):c.650dup (p.Asn217fs) rs2145697647
NM_001429.4(EP300):c.6520A>G (p.Thr2174Ala) rs5758252
NM_001429.4(EP300):c.6522C>T (p.Thr2174=)
NM_001429.4(EP300):c.6523A>G (p.Met2175Val)
NM_001429.4(EP300):c.6526C>A (p.Pro2176Thr)
NM_001429.4(EP300):c.6533A>G (p.Gln2178Arg)
NM_001429.4(EP300):c.6539G>A (p.Arg2180Gln)
NM_001429.4(EP300):c.6543C>T (p.Asp2181=)
NM_001429.4(EP300):c.6546C>A (p.Ile2182=)
NM_001429.4(EP300):c.6549G>C (p.Leu2183Phe)
NM_001429.4(EP300):c.6561A>G (p.Gln2187=)
NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del) rs875989807
NM_001429.4(EP300):c.6576G>C (p.Gln2192His)
NM_001429.4(EP300):c.6579G>C (p.Gln2193His)
NM_001429.4(EP300):c.6591A>G (p.Ala2197=)
NM_001429.4(EP300):c.6592G>A (p.Gly2198Arg)
NM_001429.4(EP300):c.6594G>A (p.Gly2198=)
NM_001429.4(EP300):c.6599G>C (p.Gly2200Ala)
NM_001429.4(EP300):c.6607C>A (p.Pro2203Thr)
NM_001429.4(EP300):c.6607C>G (p.Pro2203Ala) rs1358846937
NM_001429.4(EP300):c.6615G>T (p.Met2205Ile)
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.6633C>T (p.Phe2211=)
NM_001429.4(EP300):c.6641C>T (p.Pro2214Leu)
NM_001429.4(EP300):c.6642C>G (p.Pro2214=)
NM_001429.4(EP300):c.6646G>A (p.Gly2216Arg)
NM_001429.4(EP300):c.6657C>T (p.Tyr2219=) rs2145521664
NM_001429.4(EP300):c.6659C>G (p.Pro2220Arg)
NM_001429.4(EP300):c.6662C>T (p.Pro2221Leu)
NM_001429.4(EP300):c.6667C>A (p.Gln2223Lys)
NM_001429.4(EP300):c.6676C>T (p.Arg2226Trp)
NM_001429.4(EP300):c.667C>G (p.Leu223Val) rs746720991
NM_001429.4(EP300):c.6680T>C (p.Met2227Thr)
NM_001429.4(EP300):c.6681G>A (p.Met2227Ile)
NM_001429.4(EP300):c.6691del (p.Met2231fs) rs1601641819
NM_001429.4(EP300):c.6696A>G (p.Gln2232=)
NM_001429.4(EP300):c.6703C>A (p.Gln2235Lys)
NM_001429.4(EP300):c.6707A>G (p.Gln2236Arg)
NM_001429.4(EP300):c.6712A>G (p.Asn2238Asp)
NM_001429.4(EP300):c.6716T>C (p.Met2239Thr)
NM_001429.4(EP300):c.6739dup (p.Gln2247fs)
NM_001429.4(EP300):c.6743C>T (p.Ala2248Val)
NM_001429.4(EP300):c.6747G>C (p.Leu2249Phe)
NM_001429.4(EP300):c.6749G>T (p.Gly2250Val)
NM_001429.4(EP300):c.6751G>A (p.Ala2251Thr)
NM_001429.4(EP300):c.6769C>T (p.Leu2257=)
NM_001429.4(EP300):c.676G>T (p.Gly226Cys)
NM_001429.4(EP300):c.6775G>A (p.Ala2259Thr)
NM_001429.4(EP300):c.6777C>T (p.Ala2259=)
NM_001429.4(EP300):c.6782A>G (p.Gln2261Arg)
NM_001429.4(EP300):c.6786G>C (p.Gln2262His) rs2059217082
NM_001429.4(EP300):c.6787C>T (p.Arg2263Ter)
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.6801A>G (p.Gln2267=)
NM_001429.4(EP300):c.6804G>C (p.Gln2268His)
NM_001429.4(EP300):c.6805A>T (p.Met2269Leu)
NM_001429.4(EP300):c.680C>T (p.Ser227Phe)
NM_001429.4(EP300):c.6815C>T (p.Pro2272Leu) rs1386526100
NM_001429.4(EP300):c.6820C>A (p.Gln2274Lys)
NM_001429.4(EP300):c.6832A>G (p.Met2278Val)
NM_001429.4(EP300):c.6833_6842dup (p.Gln2281fs)
NM_001429.4(EP300):c.6840C>T (p.Pro2280=)
NM_001429.4(EP300):c.6863A>G (p.Gln2288Arg)
NM_001429.4(EP300):c.6867C>T (p.Ala2289=)
NM_001429.4(EP300):c.6874C>G (p.Pro2292Ala)
NM_001429.4(EP300):c.6888C>T (p.Gly2296=)
NM_001429.4(EP300):c.6896T>A (p.Ile2299Asn)
NM_001429.4(EP300):c.6907C>G (p.Leu2303Val) rs144787962
NM_001429.4(EP300):c.6914A>G (p.Asn2305Ser)
NM_001429.4(EP300):c.6915_6918del (p.Asn2305fs) rs797045560
NM_001429.4(EP300):c.6920T>G (p.Val2307Gly)
NM_001429.4(EP300):c.6921G>A (p.Val2307=)
NM_001429.4(EP300):c.6958T>C (p.Ser2320Pro)
NM_001429.4(EP300):c.695G>C (p.Gly232Ala) rs1261612920
NM_001429.4(EP300):c.6970C>A (p.His2324Asn)
NM_001429.4(EP300):c.6973_6975dup (p.Ser2326_Pro2327insSer)
NM_001429.4(EP300):c.6975C>G (p.Ser2325=)
NM_001429.4(EP300):c.6975C>T (p.Ser2325=)
NM_001429.4(EP300):c.6981_6983del (p.Ser2328del)
NM_001429.4(EP300):c.6983C>T (p.Ser2328Phe)
NM_001429.4(EP300):c.6984C>A (p.Ser2328=) rs200478275
NM_001429.4(EP300):c.6988A>G (p.Arg2330Gly)
NM_001429.4(EP300):c.6994C>A (p.Gln2332Lys)
NM_001429.4(EP300):c.7011A>G (p.Pro2337=)
NM_001429.4(EP300):c.7013A>G (p.His2338Arg)
NM_001429.4(EP300):c.7014_7028del (p.His2338_Pro2342del) rs1601642386
NM_001429.4(EP300):c.7015C>T (p.His2339Tyr)
NM_001429.4(EP300):c.7041A>G (p.Pro2347=)
NM_001429.4(EP300):c.7043A>G (p.His2348Arg)
NM_001429.4(EP300):c.7046del (p.Pro2349fs)
NM_001429.4(EP300):c.7054G>A (p.Val2352Ile)
NM_001429.4(EP300):c.7064A>G (p.Gln2355Arg)
NM_001429.4(EP300):c.706T>A (p.Leu236Met)
NM_001429.4(EP300):c.706T>C (p.Leu236=)
NM_001429.4(EP300):c.7070A>G (p.Asn2357Ser) rs147304540
NM_001429.4(EP300):c.7070A>T (p.Asn2357Ile)
NM_001429.4(EP300):c.7070_7096dup (p.Asn2357_Ala2365dup) rs2059220245
NM_001429.4(EP300):c.7074C>T (p.Pro2358=)
NM_001429.4(EP300):c.708G>C (p.Leu236Phe)
NM_001429.4(EP300):c.7094C>T (p.Ala2365Val)
NM_001429.4(EP300):c.7098C>T (p.Ser2366=)
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.7106A>G (p.Gln2369Arg)
NM_001429.4(EP300):c.7109A>G (p.Asn2370Ser)
NM_001429.4(EP300):c.7112C>T (p.Ser2371Leu)
NM_001429.4(EP300):c.7120T>G (p.Ser2374Ala)
NM_001429.4(EP300):c.7121C>T (p.Ser2374Phe)
NM_001429.4(EP300):c.7129G>A (p.Ala2377Thr)
NM_001429.4(EP300):c.7131T>C (p.Ala2377=)
NM_001429.4(EP300):c.7131dup (p.Ser2378Ter)
NM_001429.4(EP300):c.7134C>T (p.Ser2378=)
NM_001429.4(EP300):c.7135A>C (p.Asn2379His)
NM_001429.4(EP300):c.7135A>G (p.Asn2379Asp)
NM_001429.4(EP300):c.7136A>G (p.Asn2379Ser) rs886057571
NM_001429.4(EP300):c.7138C>T (p.Pro2380Ser)
NM_001429.4(EP300):c.713G>A (p.Gly238Asp)
NM_001429.4(EP300):c.7153C>T (p.Leu2385Phe) rs752065194
NM_001429.4(EP300):c.7158T>C (p.His2386=)
NM_001429.4(EP300):c.7163C>T (p.Ala2388Val)
NM_001429.4(EP300):c.7168G>A (p.Ala2390Thr)
NM_001429.4(EP300):c.7173G>A (p.Thr2391=)
NM_001429.4(EP300):c.7179G>A (p.Leu2393=)
NM_001429.4(EP300):c.7182A>G (p.Gly2394=)
NM_001429.4(EP300):c.7183C>G (p.Leu2395Val)
NM_001429.4(EP300):c.7186A>C (p.Ser2396Arg)
NM_001429.4(EP300):c.7186A>G (p.Ser2396Gly)
NM_001429.4(EP300):c.7189A>C (p.Thr2397Pro)
NM_001429.4(EP300):c.7192G>A (p.Asp2398Asn)
NM_001429.4(EP300):c.7202A>G (p.Asp2401Gly)
NM_001429.4(EP300):c.7213A>G (p.Asn2405Asp)
NM_001429.4(EP300):c.7216C>T (p.Leu2406Phe)
NM_001429.4(EP300):c.721C>T (p.Pro241Ser)
NM_001429.4(EP300):c.7220C>T (p.Ser2407Leu) rs1424813619
NM_001429.4(EP300):c.7221A>G (p.Ser2407=) rs964396023
NM_001429.4(EP300):c.7222_7223del (p.Gln2408fs) rs1057519375
NM_001429.4(EP300):c.7225A>C (p.Ser2409Arg) rs748325077
NM_001429.4(EP300):c.7230A>G (p.Thr2410=)
NM_001429.4(EP300):c.7241_7242dup (p.Ter2415ThrextTer?) rs1329239009
NM_001429.4(EP300):c.7242C>T (p.His2414=) rs1329691393
NM_001429.4(EP300):c.7244A>G (p.Ter2415Trp) rs1601642812
NM_001429.4(EP300):c.729+18T>G
NM_001429.4(EP300):c.729+19T>C
NM_001429.4(EP300):c.729+8C>T
NM_001429.4(EP300):c.730-10T>A
NM_001429.4(EP300):c.730-18_730-9del rs61120041
NM_001429.4(EP300):c.730-20C>T
NM_001429.4(EP300):c.730-3del
NM_001429.4(EP300):c.730-5C>T
NM_001429.4(EP300):c.730-7_730-2del rs762256767
NM_001429.4(EP300):c.730A>T (p.Met244Leu)
NM_001429.4(EP300):c.734G>A (p.Gly245Glu)
NM_001429.4(EP300):c.742A>C (p.Asn248His)
NM_001429.4(EP300):c.746A>T (p.Asn249Ile) rs200732771
NM_001429.4(EP300):c.749C>G (p.Pro250Arg) rs2058879222
NM_001429.4(EP300):c.750C>T (p.Pro250=)
NM_001429.4(EP300):c.757T>C (p.Tyr253His)
NM_001429.4(EP300):c.759T>C (p.Tyr253=)
NM_001429.4(EP300):c.768A>T (p.Pro256=)
NM_001429.4(EP300):c.769_786del (p.Tyr257_Gly262del) rs876661318
NM_001429.4(EP300):c.770A>G (p.Tyr257Cys)
NM_001429.4(EP300):c.772A>G (p.Thr258Ala)
NM_001429.4(EP300):c.809T>G (p.Leu270Arg)
NM_001429.4(EP300):c.828A>C (p.Thr276=)
NM_001429.4(EP300):c.832del (p.Thr278fs) rs2058879988
NM_001429.4(EP300):c.839T>C (p.Leu280Pro)
NM_001429.4(EP300):c.853T>C (p.Ser285Pro)
NM_001429.4(EP300):c.864T>C (p.Ala288=)
NM_001429.4(EP300):c.887G>T (p.Gly296Val)
NM_001429.4(EP300):c.898C>T (p.Pro300Ser)
NM_001429.4(EP300):c.899C>G (p.Pro300Arg)
NM_001429.4(EP300):c.901A>G (p.Asn301Asp)
NM_001429.4(EP300):c.907-14G>A
NM_001429.4(EP300):c.933G>A (p.Gln311=)
NM_001429.4(EP300):c.937C>G (p.Pro313Ala)
NM_001429.4(EP300):c.941G>A (p.Gly314Asp)
NM_001429.4(EP300):c.95-3T>C
NM_001429.4(EP300):c.95-9T>C
NM_001429.4(EP300):c.952C>T (p.Pro318Ser)
NM_001429.4(EP300):c.955G>A (p.Val319Ile)
NM_001429.4(EP300):c.960C>T (p.Ala320=)
NM_001429.4(EP300):c.963A>G (p.Gln321=)
NM_001429.4(EP300):c.965G>A (p.Gly322Glu)
NM_001429.4(EP300):c.965G>C (p.Gly322Ala)
NM_001429.4(EP300):c.967A>G (p.Met323Val)
NM_001429.4(EP300):c.984T>C (p.His328=)
NM_001429.4(EP300):c.991G>A (p.Asp331Asn)
NM_001429.4(EP300):c.9G>T (p.Glu3Asp)
NM_001429.4:c.730_1760del

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