ClinVar Miner

List of variants in gene EP300 studied for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1156
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.2053+8G>T rs6002267 0.96608
NM_001429.4(EP300):c.3183T>A (p.Thr1061=) rs20552 0.60742
NM_001429.4(EP300):c.4453-23T>C rs2076577 0.52128
NM_001429.4(EP300):c.4618-18C>T rs2076578 0.25729
NM_001429.4(EP300):c.4452+20C>T rs6002271 0.24735
NM_001429.4(EP300):c.4026-17C>A rs2294976 0.07351
NM_001429.4(EP300):c.2380-15T>C rs17002316 0.04187
NM_001429.4(EP300):c.95-16T>C rs5758235 0.04158
NM_001429.4(EP300):c.1168+18G>A rs3818120 0.04137
NM_001429.4(EP300):c.3348G>A (p.Gln1116=) rs20554 0.04072
NM_001429.4(EP300):c.2131+18T>A rs9611506 0.02567
NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro) rs1046088 0.02418
NM_001429.4(EP300):c.5061+9C>T rs73176628 0.02079
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 0.01442
NM_001429.4(EP300):c.2131+17A>T rs113214815 0.01215
NM_001429.4(EP300):c.2019T>C (p.Pro673=) rs2230110 0.00998
NM_001429.4(EP300):c.1168+7G>C rs181755354 0.00711
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.1623-20T>C rs151092312 0.00288
NM_001429.4(EP300):c.2064A>G (p.Leu688=) rs61756763 0.00276
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.1283-19dup rs564142589 0.00160
NM_001429.4(EP300):c.5259C>T (p.Cys1753=) rs148040990 0.00160
NM_001429.4(EP300):c.678C>G (p.Gly226=) rs147244947 0.00158
NM_001429.4(EP300):c.532T>C (p.Leu178=) rs190524661 0.00155
NM_001429.4(EP300):c.4311A>C (p.Ala1437=) rs150941761 0.00150
NM_001429.4(EP300):c.1878+9C>G rs186198699 0.00138
NM_001429.4(EP300):c.5061+10G>A rs78432056 0.00131
NM_001429.4(EP300):c.6210G>A (p.Val2070=) rs11912899 0.00130
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.6969C>G (p.Pro2323=) rs111489369 0.00100
NM_001429.4(EP300):c.6390G>A (p.Met2130Ile) rs147973806 0.00093
NM_001429.4(EP300):c.6675G>A (p.Gln2225=) rs147880144 0.00092
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly) rs146242251 0.00090
NM_001429.4(EP300):c.4779+18A>G rs146245982 0.00084
NM_001429.4(EP300):c.1168+20T>C rs3818121 0.00082
NM_001429.4(EP300):c.4503G>A (p.Leu1501=) rs368320273 0.00078
NM_001429.4(EP300):c.3143-9T>C rs199773872 0.00077
NM_001429.4(EP300):c.2054-3T>C rs375287913 0.00072
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr) rs145714752 0.00071
NM_001429.4(EP300):c.2656C>T (p.Pro886Ser) rs148308496 0.00070
NM_001429.4(EP300):c.4599C>G (p.Thr1533=) rs143885808 0.00068
NM_001429.4(EP300):c.5271C>T (p.Ser1757=) rs138917060 0.00060
NM_001429.4(EP300):c.316A>G (p.Ser106Gly) rs150245975 0.00051
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.5364C>T (p.Leu1788=) rs143551315 0.00043
NM_001429.4(EP300):c.739A>G (p.Met247Val) rs147583157 0.00038
NM_001429.4(EP300):c.6481A>G (p.Met2161Val) rs188035979 0.00037
NM_001429.4(EP300):c.6951G>A (p.Arg2317=) rs139551099 0.00035
NM_001429.4(EP300):c.2380-18T>C rs189468196 0.00029
NM_001429.4(EP300):c.1990A>G (p.Met664Val) rs529145180 0.00027
NM_001429.4(EP300):c.1283-20A>G rs138758404 0.00026
NM_001429.4(EP300):c.4724A>G (p.Asn1575Ser) rs144547088 0.00026
NM_001429.4(EP300):c.6192C>A (p.Pro2064=) rs370889984 0.00026
NM_001429.4(EP300):c.5172C>A (p.Thr1724=) rs142330184 0.00025
NM_001429.4(EP300):c.324C>T (p.Ala108=) rs138876937 0.00023
NM_001429.4(EP300):c.5808G>A (p.Ala1936=) rs144798492 0.00023
NM_001429.4(EP300):c.444G>A (p.Thr148=) rs376779611 0.00022
NM_001429.4(EP300):c.2110C>T (p.Pro704Ser) rs149858781 0.00021
NM_001429.4(EP300):c.6043A>G (p.Met2015Val) rs1351718424 0.00021
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.1608C>A (p.Ala536=) rs370568560 0.00018
NM_001429.4(EP300):c.2242-8T>C rs199931034 0.00018
NM_001429.4(EP300):c.4191C>T (p.Tyr1397=) rs377652798 0.00017
NM_001429.4(EP300):c.7177C>G (p.Leu2393Val) rs377508897 0.00017
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.5711A>C (p.Gln1904Pro) rs140187237 0.00016
NM_001429.4(EP300):c.7161T>C (p.Gly2387=) rs143148170 0.00016
NM_001429.4(EP300):c.513G>A (p.Ala171=) rs146041458 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.6684G>A (p.Gln2228=) rs148504625 0.00015
NM_001429.4(EP300):c.6696A>G (p.Gln2232=) rs140852765 0.00015
NM_001429.4(EP300):c.6917A>G (p.Gln2306Arg) rs140300789 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.5565A>G (p.Pro1855=) rs150532830 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.2351C>T (p.Pro784Leu) rs201480900 0.00013
NM_001429.4(EP300):c.3502-13G>A rs547213630 0.00013
NM_001429.4(EP300):c.5598G>A (p.Pro1866=) rs560633624 0.00013
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.2352G>A (p.Pro784=) rs140684440 0.00011
NM_001429.4(EP300):c.2359G>A (p.Gly787Ser) rs564786569 0.00011
NM_001429.4(EP300):c.2645C>G (p.Pro882Arg) rs772707021 0.00011
NM_001429.4(EP300):c.2668A>C (p.Thr890Pro) rs577396026 0.00011
NM_001429.4(EP300):c.2676A>G (p.Gln892=) rs374237094 0.00011
NM_001429.4(EP300):c.2787A>G (p.Ala929=) rs143690368 0.00011
NM_001429.4(EP300):c.3352G>A (p.Val1118Ile) rs368486518 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.6315C>T (p.Gly2105=) rs528866215 0.00011
NM_001429.4(EP300):c.772A>G (p.Thr258Ala) rs201804130 0.00011
NM_001429.4(EP300):c.157T>C (p.Leu53=) rs147566983 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.6659C>G (p.Pro2220Arg) rs555467754 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.5169C>T (p.Ala1723=) rs372604824 0.00009
NM_001429.4(EP300):c.586A>G (p.Ile196Val) rs148693910 0.00009
NM_001429.4(EP300):c.6414G>A (p.Ala2138=) rs374679651 0.00009
NM_001429.4(EP300):c.3143-7T>G rs778277906 0.00008
NM_001429.4(EP300):c.3874+13C>T rs545137722 0.00008
NM_001429.4(EP300):c.5559C>A (p.Ala1853=) rs141691930 0.00008
NM_001429.4(EP300):c.5709C>T (p.Gly1903=) rs200728751 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.2053+18T>C rs200658631 0.00007
NM_001429.4(EP300):c.2077A>G (p.Met693Val) rs151147205 0.00007
NM_001429.4(EP300):c.2671A>C (p.Thr891Pro) rs200499648 0.00007
NM_001429.4(EP300):c.5346C>T (p.Cys1782=) rs747513510 0.00007
NM_001429.4(EP300):c.5784G>C (p.Met1928Ile) rs376626285 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.6641C>T (p.Pro2214Leu) rs140819454 0.00007
NM_001429.4(EP300):c.6729C>T (p.Gly2243=) rs765194008 0.00007
NM_001429.4(EP300):c.6912C>T (p.Ser2304=) rs113329190 0.00007
NM_001429.4(EP300):c.1540A>G (p.Met514Val) rs765266179 0.00006
NM_001429.4(EP300):c.1585T>C (p.Ser529Pro) rs538308049 0.00006
NM_001429.4(EP300):c.2245A>G (p.Met749Val) rs370478867 0.00006
NM_001429.4(EP300):c.2393G>A (p.Ser798Asn) rs781326261 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.4482A>G (p.Arg1494=) rs149471059 0.00006
NM_001429.4(EP300):c.5406G>A (p.Pro1802=) rs537834282 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.6874C>G (p.Pro2292Ala) rs751592464 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.1282C>T (p.Pro428Ser) rs201341021 0.00005
NM_001429.4(EP300):c.1352C>A (p.Pro451His) rs140538515 0.00005
NM_001429.4(EP300):c.1785G>A (p.Pro595=) rs374354690 0.00005
NM_001429.4(EP300):c.1830A>G (p.Ala610=) rs138697580 0.00005
NM_001429.4(EP300):c.1878+13T>C rs200466416 0.00005
NM_001429.4(EP300):c.2034G>A (p.Pro678=) rs772761956 0.00005
NM_001429.4(EP300):c.2334A>G (p.Thr778=) rs374281264 0.00005
NM_001429.4(EP300):c.2419A>G (p.Ile807Val) rs201054979 0.00005
NM_001429.4(EP300):c.270C>T (p.Ser90=) rs367583060 0.00005
NM_001429.4(EP300):c.2746T>A (p.Ser916Thr) rs148531930 0.00005
NM_001429.4(EP300):c.2789C>T (p.Pro930Leu) rs147198241 0.00005
NM_001429.4(EP300):c.31C>T (p.Pro11Ser) rs762278198 0.00005
NM_001429.4(EP300):c.3617A>G (p.Asn1206Ser) rs779792116 0.00005
NM_001429.4(EP300):c.4214G>A (p.Arg1405His) rs138855106 0.00005
NM_001429.4(EP300):c.4624A>G (p.Lys1542Glu) rs374162524 0.00005
NM_001429.4(EP300):c.4887G>A (p.Ala1629=) rs747009952 0.00005
NM_001429.4(EP300):c.5076T>C (p.Cys1692=) rs766092268 0.00005
NM_001429.4(EP300):c.5391G>A (p.Gln1797=) rs1014464615 0.00005
NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser) rs749979249 0.00005
NM_001429.4(EP300):c.5685T>C (p.Pro1895=) rs757884542 0.00005
NM_001429.4(EP300):c.6418G>A (p.Val2140Ile) rs367685222 0.00005
NM_001429.4(EP300):c.6680T>C (p.Met2227Thr) rs374135370 0.00005
NM_001429.4(EP300):c.6922C>T (p.Arg2308Cys) rs145312648 0.00005
NM_001429.4(EP300):c.1529-16T>C rs1343155056 0.00004
NM_001429.4(EP300):c.1760+20C>T rs368767822 0.00004
NM_001429.4(EP300):c.2242-17T>G rs543379609 0.00004
NM_001429.4(EP300):c.2367T>C (p.Ala789=) rs759989339 0.00004
NM_001429.4(EP300):c.2756G>A (p.Ser919Asn) rs141403873 0.00004
NM_001429.4(EP300):c.2801C>T (p.Pro934Leu) rs564126491 0.00004
NM_001429.4(EP300):c.3216C>T (p.Ser1072=) rs764807486 0.00004
NM_001429.4(EP300):c.3522A>G (p.Thr1174=) rs756748826 0.00004
NM_001429.4(EP300):c.3751G>A (p.Gly1251Arg) rs373249130 0.00004
NM_001429.4(EP300):c.4149T>C (p.Ser1383=) rs1034313445 0.00004
NM_001429.4(EP300):c.4172+11C>T rs368910454 0.00004
NM_001429.4(EP300):c.4347T>C (p.His1449=) rs137986257 0.00004
NM_001429.4(EP300):c.6662C>T (p.Pro2221Leu) rs28937578 0.00004
NM_001429.4(EP300):c.6923G>A (p.Arg2308His) rs759647202 0.00004
NM_001429.4(EP300):c.7017C>T (p.His2339=) rs759571982 0.00004
NM_001429.4(EP300):c.713G>A (p.Gly238Asp) rs761125378 0.00004
NM_001429.4(EP300):c.781C>T (p.Pro261Ser) rs753462821 0.00004
NM_001429.4(EP300):c.955G>A (p.Val319Ile) rs766329658 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.1635T>A (p.Ser545Arg) rs759693947 0.00003
NM_001429.4(EP300):c.1672A>G (p.Thr558Ala) rs1057519397 0.00003
NM_001429.4(EP300):c.1683A>G (p.Gln561=) rs374523754 0.00003
NM_001429.4(EP300):c.1887C>T (p.Tyr629=) rs144594889 0.00003
NM_001429.4(EP300):c.2053+8_2053+11del rs763761484 0.00003
NM_001429.4(EP300):c.2093T>C (p.Val698Ala) rs980024399 0.00003
NM_001429.4(EP300):c.2132-15T>C rs750449132 0.00003
NM_001429.4(EP300):c.2241G>A (p.Pro747=) rs759604286 0.00003
NM_001429.4(EP300):c.231A>G (p.Lys77=) rs752625922 0.00003
NM_001429.4(EP300):c.2505A>G (p.Val835=) rs749488807 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.2757C>T (p.Ser919=) rs774376230 0.00003
NM_001429.4(EP300):c.2805G>A (p.Gln935=) rs376996214 0.00003
NM_001429.4(EP300):c.3261+11G>A rs370353369 0.00003
NM_001429.4(EP300):c.3261+14G>A rs1227739842 0.00003
NM_001429.4(EP300):c.3690A>G (p.Gln1230=) rs772381383 0.00003
NM_001429.4(EP300):c.4172+16A>G rs777335301 0.00003
NM_001429.4(EP300):c.4602C>T (p.Ser1534=) rs758523229 0.00003
NM_001429.4(EP300):c.4617+9A>C rs369538643 0.00003
NM_001429.4(EP300):c.4780-14T>G rs772175513 0.00003
NM_001429.4(EP300):c.487A>G (p.Met163Val) rs754310554 0.00003
NM_001429.4(EP300):c.5028T>C (p.His1676=) rs747152661 0.00003
NM_001429.4(EP300):c.512C>T (p.Ala171Val) rs533349187 0.00003
NM_001429.4(EP300):c.524C>T (p.Pro175Leu) rs1200338622 0.00003
NM_001429.4(EP300):c.545A>G (p.Asn182Ser) rs201487387 0.00003
NM_001429.4(EP300):c.5493G>A (p.Arg1831=) rs1379274045 0.00003
NM_001429.4(EP300):c.5532A>G (p.Gln1844=) rs1483819669 0.00003
NM_001429.4(EP300):c.5567C>T (p.Thr1856Met) rs373942196 0.00003
NM_001429.4(EP300):c.5644A>G (p.Ser1882Gly) rs769796204 0.00003
NM_001429.4(EP300):c.5934G>A (p.Gly1978=) rs762125885 0.00003
NM_001429.4(EP300):c.5958G>A (p.Pro1986=) rs147863486 0.00003
NM_001429.4(EP300):c.6091C>T (p.Pro2031Ser) rs199650847 0.00003
NM_001429.4(EP300):c.6144A>G (p.Gln2048=) rs1193267661 0.00003
NM_001429.4(EP300):c.6193C>T (p.Leu2065=) rs377556812 0.00003
NM_001429.4(EP300):c.6413C>T (p.Ala2138Val) rs587778258 0.00003
NM_001429.4(EP300):c.6801A>G (p.Gln2267=) rs578112810 0.00003
NM_001429.4(EP300):c.7018G>A (p.Val2340Ile) rs558456063 0.00003
NM_001429.4(EP300):c.7100C>T (p.Pro2367Leu) rs748953233 0.00003
NM_001429.4(EP300):c.7101G>A (p.Pro2367=) rs377059599 0.00003
NM_001429.4(EP300):c.7135A>C (p.Asn2379His) rs202225885 0.00003
NM_001429.4(EP300):c.7140A>G (p.Pro2380=) rs543339090 0.00003
NM_001429.4(EP300):c.7168G>A (p.Ala2390Thr) rs200567960 0.00003
NM_001429.4(EP300):c.7173G>A (p.Thr2391=) rs573669978 0.00003
NM_001429.4(EP300):c.726T>A (p.Leu242=) rs886057555 0.00003
NM_001429.4(EP300):c.729+20G>T rs777496736 0.00003
NM_001429.4(EP300):c.742A>C (p.Asn248His) rs777191526 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.156A>G (p.Glu52=) rs1440053697 0.00002
NM_001429.4(EP300):c.1575G>A (p.Pro525=) rs772455986 0.00002
NM_001429.4(EP300):c.1666A>G (p.Met556Val) rs779503787 0.00002
NM_001429.4(EP300):c.1781C>T (p.Thr594Met) rs750740148 0.00002
NM_001429.4(EP300):c.1991T>C (p.Met664Thr) rs547684073 0.00002
NM_001429.4(EP300):c.2054-19T>C rs769216865 0.00002
NM_001429.4(EP300):c.206G>A (p.Gly69Asp) rs370355846 0.00002
NM_001429.4(EP300):c.2181C>T (p.Pro727=) rs558057411 0.00002
NM_001429.4(EP300):c.2183G>A (p.Arg728Gln) rs746729196 0.00002
NM_001429.4(EP300):c.2256G>A (p.Gly752=) rs1233370924 0.00002
NM_001429.4(EP300):c.2622G>C (p.Gln874His) rs377763622 0.00002
NM_001429.4(EP300):c.2766G>A (p.Ala922=) rs370810144 0.00002
NM_001429.4(EP300):c.3534C>T (p.Tyr1178=) rs199535477 0.00002
NM_001429.4(EP300):c.3590+4A>T rs1285602759 0.00002
NM_001429.4(EP300):c.3806+12C>T rs199998839 0.00002
NM_001429.4(EP300):c.383A>T (p.Gln128Leu) rs149380994 0.00002
NM_001429.4(EP300):c.4065C>T (p.Tyr1355=) rs886043598 0.00002
NM_001429.4(EP300):c.4235C>T (p.Ala1412Val) rs887226313 0.00002
NM_001429.4(EP300):c.4618-19C>T rs370553691 0.00002
NM_001429.4(EP300):c.4623C>T (p.Thr1541=) rs1458645380 0.00002
NM_001429.4(EP300):c.4863C>T (p.Cys1621=) rs779048506 0.00002
NM_001429.4(EP300):c.5007C>G (p.Thr1669=) rs367915829 0.00002
NM_001429.4(EP300):c.5088T>C (p.Tyr1696=) rs754931716 0.00002
NM_001429.4(EP300):c.5150A>G (p.Asn1717Ser) rs779154669 0.00002
NM_001429.4(EP300):c.5331C>T (p.Gly1777=) rs558982627 0.00002
NM_001429.4(EP300):c.5597C>T (p.Pro1866Leu) rs763290593 0.00002
NM_001429.4(EP300):c.5727C>T (p.Thr1909=) rs149418364 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.596G>C (p.Gly199Ala) rs761775649 0.00002
NM_001429.4(EP300):c.5979A>G (p.Pro1993=) rs140403496 0.00002
NM_001429.4(EP300):c.613A>G (p.Met205Val) rs763036895 0.00002
NM_001429.4(EP300):c.6303_6323del (p.Met2106_Gly2112del) rs754326379 0.00002
NM_001429.4(EP300):c.6378C>T (p.Ser2126=) rs368321182 0.00002
NM_001429.4(EP300):c.6488C>T (p.Pro2163Leu) rs1013716287 0.00002
NM_001429.4(EP300):c.7011A>G (p.Pro2337=) rs374096478 0.00002
NM_001429.4(EP300):c.7082A>G (p.Gln2361Arg) rs1263635747 0.00002
NM_001429.4(EP300):c.7191C>T (p.Thr2397=) rs376984096 0.00002
NM_001429.4(EP300):c.7213A>G (p.Asn2405Asp) rs796194082 0.00002
NM_001429.4(EP300):c.730-20C>T rs753573114 0.00002
NM_001429.4(EP300):c.809T>G (p.Leu270Arg) rs781277803 0.00002
NM_001429.4(EP300):c.853T>C (p.Ser285Pro) rs761504502 0.00002
NM_001429.4(EP300):c.907-10T>C rs772628747 0.00002
NM_001429.4(EP300):c.1044T>C (p.Ala348=) rs779317339 0.00001
NM_001429.4(EP300):c.1113A>G (p.Thr371=) rs748993032 0.00001
NM_001429.4(EP300):c.1128A>G (p.Leu376=) rs2058891058 0.00001
NM_001429.4(EP300):c.1150T>G (p.Ser384Ala) rs377368037 0.00001
NM_001429.4(EP300):c.1169-11C>T rs1288243601 0.00001
NM_001429.4(EP300):c.1169-12T>C rs761882151 0.00001
NM_001429.4(EP300):c.1226A>G (p.His409Arg) rs1466532504 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.1355A>G (p.Asn452Ser) rs774469864 0.00001
NM_001429.4(EP300):c.1366G>A (p.Val456Ile) rs775990510 0.00001
NM_001429.4(EP300):c.1449A>C (p.Gln483His) rs779031630 0.00001
NM_001429.4(EP300):c.1508T>C (p.Met503Thr) rs1185038602 0.00001
NM_001429.4(EP300):c.151A>G (p.Thr51Ala) rs2058826373 0.00001
NM_001429.4(EP300):c.1541T>C (p.Met514Thr) rs758573292 0.00001
NM_001429.4(EP300):c.1571C>T (p.Thr524Met) rs1452596865 0.00001
NM_001429.4(EP300):c.169A>G (p.Asn57Asp) rs1186074560 0.00001
NM_001429.4(EP300):c.1709A>G (p.Gln570Arg) rs1298081293 0.00001
NM_001429.4(EP300):c.170A>G (p.Asn57Ser) rs2518115485 0.00001
NM_001429.4(EP300):c.1760+11T>C rs762847042 0.00001
NM_001429.4(EP300):c.1874A>G (p.Asn625Ser) rs775426461 0.00001
NM_001429.4(EP300):c.1983T>C (p.Ala661=) rs199798718 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.2132-11C>G rs761640420 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.2184G>T (p.Arg728=) rs187938527 0.00001
NM_001429.4(EP300):c.2188A>G (p.Thr730Ala) rs2059021271 0.00001
NM_001429.4(EP300):c.2191C>T (p.Pro731Ser) rs1290732977 0.00001
NM_001429.4(EP300):c.2242-15T>G rs1436689041 0.00001
NM_001429.4(EP300):c.2242-7T>C rs754162523 0.00001
NM_001429.4(EP300):c.2279A>G (p.Asn760Ser) rs374502005 0.00001
NM_001429.4(EP300):c.2285G>A (p.Gly762Asp) rs745785745 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.2632C>T (p.Leu878=) rs780654334 0.00001
NM_001429.4(EP300):c.2640C>G (p.Pro880=) rs769353664 0.00001
NM_001429.4(EP300):c.271C>T (p.Pro91Ser) rs138538553 0.00001
NM_001429.4(EP300):c.2730C>T (p.Pro910=) rs780271472 0.00001
NM_001429.4(EP300):c.2743C>T (p.Arg915Cys) rs377517076 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.3261+3A>G rs753036687 0.00001
NM_001429.4(EP300):c.3261+8T>G rs756407848 0.00001
NM_001429.4(EP300):c.3282G>A (p.Lys1094=) rs1024481587 0.00001
NM_001429.4(EP300):c.3357T>C (p.Asp1119=) rs1305496497 0.00001
NM_001429.4(EP300):c.33T>A (p.Pro11=) rs750974943 0.00001
NM_001429.4(EP300):c.3447T>C (p.Phe1149=) rs758726314 0.00001
NM_001429.4(EP300):c.3464C>T (p.Pro1155Leu) rs747493771 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.3636C>T (p.Ser1212=) rs911135531 0.00001
NM_001429.4(EP300):c.3659C>G (p.Ser1220Cys) rs1176732027 0.00001
NM_001429.4(EP300):c.3675A>G (p.Thr1225=) rs774604553 0.00001
NM_001429.4(EP300):c.3704A>G (p.Lys1235Arg) rs775923978 0.00001
NM_001429.4(EP300):c.3711C>T (p.Asp1237=) rs2059114686 0.00001
NM_001429.4(EP300):c.3728+8C>T rs147244236 0.00001
NM_001429.4(EP300):c.3728+9G>A rs1357133466 0.00001
NM_001429.4(EP300):c.3728T>A (p.Leu1243Gln) rs764718091 0.00001
NM_001429.4(EP300):c.3729-8T>C rs760510686 0.00001
NM_001429.4(EP300):c.3746A>G (p.Glu1249Gly) rs2059122292 0.00001
NM_001429.4(EP300):c.3752G>A (p.Gly1251Glu) rs1032317413 0.00001
NM_001429.4(EP300):c.3802G>T (p.Ala1268Ser) rs1203373368 0.00001
NM_001429.4(EP300):c.3806+13G>A rs1045067263 0.00001
NM_001429.4(EP300):c.3827T>C (p.Leu1276Ser) rs1375932118 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.3935G>A (p.Arg1312Gln) rs2059152930 0.00001
NM_001429.4(EP300):c.4025+12T>A rs1363868184 0.00001
NM_001429.4(EP300):c.4026-12T>G rs2059153903 0.00001
NM_001429.4(EP300):c.4096A>G (p.Ile1366Val) rs1362394296 0.00001
NM_001429.4(EP300):c.4155C>T (p.Cys1385=) rs1181179827 0.00001
NM_001429.4(EP300):c.4172+5del rs780518563 0.00001
NM_001429.4(EP300):c.4172+7C>T rs752087395 0.00001
NM_001429.4(EP300):c.4173-4A>G rs1282680913 0.00001
NM_001429.4(EP300):c.4188T>A (p.Ser1396=) rs765022504 0.00001
NM_001429.4(EP300):c.4256T>C (p.Ile1419Thr) rs1278019392 0.00001
NM_001429.4(EP300):c.4339A>G (p.Ile1447Val) rs1448116681 0.00001
NM_001429.4(EP300):c.4353T>C (p.His1451=) rs373752539 0.00001
NM_001429.4(EP300):c.4360G>C (p.Asp1454His) rs2059163106 0.00001
NM_001429.4(EP300):c.4433G>A (p.Arg1478His) rs756061989 0.00001
NM_001429.4(EP300):c.4438G>A (p.Val1480Ile) rs753948138 0.00001
NM_001429.4(EP300):c.443C>T (p.Thr148Met) rs753658203 0.00001
NM_001429.4(EP300):c.4452+18G>A rs548353389 0.00001
NM_001429.4(EP300):c.4509T>C (p.Tyr1503=) rs373428278 0.00001
NM_001429.4(EP300):c.4512C>T (p.Phe1504=) rs773749974 0.00001
NM_001429.4(EP300):c.457A>G (p.Met153Val) rs777895834 0.00001
NM_001429.4(EP300):c.458T>C (p.Met153Thr) rs1312379259 0.00001
NM_001429.4(EP300):c.4617+10T>C rs1415742351 0.00001
NM_001429.4(EP300):c.4617+13A>G rs781696277 0.00001
NM_001429.4(EP300):c.4618-9A>G rs1013464962 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.4817C>T (p.Ala1606Val) rs754513034 0.00001
NM_001429.4(EP300):c.4824C>G (p.Ser1608=) rs199994113 0.00001
NM_001429.4(EP300):c.4842T>C (p.Asp1614=) rs755816596 0.00001
NM_001429.4(EP300):c.4971G>A (p.Glu1657=) rs140500249 0.00001
NM_001429.4(EP300):c.4980G>A (p.Thr1660=) rs570470790 0.00001
NM_001429.4(EP300):c.5062-5C>T rs1601639609 0.00001
NM_001429.4(EP300):c.5100C>T (p.Asn1700=) rs1292894731 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.5441G>T (p.Arg1814Leu) rs765425263 0.00001
NM_001429.4(EP300):c.5550C>G (p.Pro1850=) rs745528143 0.00001
NM_001429.4(EP300):c.5602A>T (p.Thr1868Ser) rs755349993 0.00001
NM_001429.4(EP300):c.5634C>T (p.Thr1878=) rs768483167 0.00001
NM_001429.4(EP300):c.5719C>T (p.Pro1907Ser) rs1034013330 0.00001
NM_001429.4(EP300):c.5838A>G (p.Gln1946=) rs772381985 0.00001
NM_001429.4(EP300):c.5858A>G (p.Gln1953Arg) rs2059208731 0.00001
NM_001429.4(EP300):c.5866A>G (p.Met1956Val) rs1311637459 0.00001
NM_001429.4(EP300):c.5869C>T (p.Pro1957Ser) rs1301322622 0.00001
NM_001429.4(EP300):c.5873C>T (p.Pro1958Leu) rs776916559 0.00001
NM_001429.4(EP300):c.5874G>T (p.Pro1958=) rs755466610 0.00001
NM_001429.4(EP300):c.5911C>T (p.Pro1971Ser) rs772034350 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.5967G>A (p.Met1989Ile) rs763795718 0.00001
NM_001429.4(EP300):c.6090A>G (p.Gln2030=) rs749621134 0.00001
NM_001429.4(EP300):c.6105G>A (p.Gln2035=) rs1441073777 0.00001
NM_001429.4(EP300):c.6108A>T (p.Val2036=) rs200624744 0.00001
NM_001429.4(EP300):c.6112A>G (p.Ile2038Val) rs761386616 0.00001
NM_001429.4(EP300):c.6128C>A (p.Pro2043Gln) rs546354866 0.00001
NM_001429.4(EP300):c.615G>T (p.Met205Ile) rs766306644 0.00001
NM_001429.4(EP300):c.6163T>C (p.Leu2055=) rs564569293 0.00001
NM_001429.4(EP300):c.6183C>T (p.Pro2061=) rs2059211875 0.00001
NM_001429.4(EP300):c.6204A>G (p.Gln2068=) rs1407259552 0.00001
NM_001429.4(EP300):c.6225C>T (p.His2075=) rs543501228 0.00001
NM_001429.4(EP300):c.6240G>A (p.Leu2080=) rs1006520558 0.00001
NM_001429.4(EP300):c.6279C>T (p.Ala2093=) rs754090447 0.00001
NM_001429.4(EP300):c.6300C>T (p.Ile2100=) rs1254571486 0.00001
NM_001429.4(EP300):c.6323A>C (p.Gln2108Pro) rs760736215 0.00001
NM_001429.4(EP300):c.6351C>T (p.Thr2117=) rs752110014 0.00001
NM_001429.4(EP300):c.6352A>G (p.Met2118Val) rs755381839 0.00001
NM_001429.4(EP300):c.6382C>G (p.Pro2128Ala) rs768432479 0.00001
NM_001429.4(EP300):c.6435_6446dup (p.Gln2153_Leu2154insProGlnGlnGln) rs779096859 0.00001
NM_001429.4(EP300):c.6468A>C (p.Pro2156=) rs776688239 0.00001
NM_001429.4(EP300):c.6473T>C (p.Met2158Thr) rs778354178 0.00001
NM_001429.4(EP300):c.6494C>T (p.Ala2165Val) rs138656422 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.6522C>T (p.Thr2174=) rs1218368197 0.00001
NM_001429.4(EP300):c.6526C>T (p.Pro2176Ser) rs779543207 0.00001
NM_001429.4(EP300):c.6539G>A (p.Arg2180Gln) rs745390323 0.00001
NM_001429.4(EP300):c.6582A>G (p.Gln2194=) rs761195313 0.00001
NM_001429.4(EP300):c.6592G>A (p.Gly2198Arg) rs370216095 0.00001
NM_001429.4(EP300):c.6646G>A (p.Gly2216Arg) rs1333876461 0.00001
NM_001429.4(EP300):c.667C>G (p.Leu223Val) rs746720991 0.00001
NM_001429.4(EP300):c.6681G>A (p.Met2227Ile) rs757157815 0.00001
NM_001429.4(EP300):c.6703C>A (p.Gln2235Lys) rs770293450 0.00001
NM_001429.4(EP300):c.6707A>G (p.Gln2236Arg) rs2517835363 0.00001
NM_001429.4(EP300):c.6712A>G (p.Asn2238Asp) rs759095488 0.00001
NM_001429.4(EP300):c.6775G>A (p.Ala2259Thr) rs374908361 0.00001
NM_001429.4(EP300):c.6777C>T (p.Ala2259=) rs1234058174 0.00001
NM_001429.4(EP300):c.6863A>G (p.Gln2288Arg) rs943142293 0.00001
NM_001429.4(EP300):c.6896T>A (p.Ile2299Asn) rs1481010407 0.00001
NM_001429.4(EP300):c.6914A>G (p.Asn2305Ser) rs769583219 0.00001
NM_001429.4(EP300):c.6921G>A (p.Val2307=) rs1239603966 0.00001
NM_001429.4(EP300):c.6967C>T (p.Pro2323Ser) rs201369756 0.00001
NM_001429.4(EP300):c.6988A>G (p.Arg2330Gly) rs2059219435 0.00001
NM_001429.4(EP300):c.7015C>T (p.His2339Tyr) rs183326303 0.00001
NM_001429.4(EP300):c.7109A>G (p.Asn2370Ser) rs745616467 0.00001
NM_001429.4(EP300):c.7112C>T (p.Ser2371Leu) rs139208187 0.00001
NM_001429.4(EP300):c.7121C>T (p.Ser2374Phe) rs2145524137 0.00001
NM_001429.4(EP300):c.7136A>G (p.Asn2379Ser) rs886057571 0.00001
NM_001429.4(EP300):c.7139C>T (p.Pro2380Leu) rs587778259 0.00001
NM_001429.4(EP300):c.7163C>T (p.Ala2388Val) rs1180547319 0.00001
NM_001429.4(EP300):c.7182A>G (p.Gly2394=) rs770105399 0.00001
NM_001429.4(EP300):c.7230A>G (p.Thr2410=) rs1399174163 0.00001
NM_001429.4(EP300):c.729+19T>C rs755938959 0.00001
NM_001429.4(EP300):c.729+8C>T rs751025845 0.00001
NM_001429.4(EP300):c.730-10T>A rs201058616 0.00001
NM_001429.4(EP300):c.757T>C (p.Tyr253His) rs1281969693 0.00001
NM_001429.4(EP300):c.825G>A (p.Gln275=) rs149058635 0.00001
NM_001429.4(EP300):c.898C>T (p.Pro300Ser) rs1414372233 0.00001
NM_001429.4(EP300):c.907-14G>A rs971554293 0.00001
NM_001429.4(EP300):c.941G>A (p.Gly314Asp) rs1022243558 0.00001
NM_001429.4(EP300):c.984T>C (p.His328=) rs1223680688 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.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=) rs780613170
NM_001429.4(EP300):c.1088A>C (p.Gln363Pro)
NM_001429.4(EP300):c.108_111del (p.Phe37fs) rs2518115346
NM_001429.4(EP300):c.1143C>G (p.His381Gln) rs2145710465
NM_001429.4(EP300):c.1152A>G (p.Ser384=) rs1247094723
NM_001429.4(EP300):c.1155_1156del (p.Lys386fs)
NM_001429.4(EP300):c.1169-11C>G rs1288243601
NM_001429.4(EP300):c.1169-17T>C
NM_001429.4(EP300):c.1169-19T>A rs1041993716
NM_001429.4(EP300):c.1169-4T>C rs2518132524
NM_001429.4(EP300):c.1192C>T (p.Gln398Ter)
NM_001429.4(EP300):c.1225C>T (p.His409Tyr) rs2145713608
NM_001429.4(EP300):c.1253A>G (p.Lys418Arg)
NM_001429.4(EP300):c.1282+1G>A rs2145713819
NM_001429.4(EP300):c.1283-14T>C rs759984232
NM_001429.4(EP300):c.1283-16C>T rs200548363
NM_001429.4(EP300):c.1283-6C>G rs142082005
NM_001429.4(EP300):c.1293T>C (p.Thr431=) rs2518134554
NM_001429.4(EP300):c.1304T>G (p.Val435Gly)
NM_001429.4(EP300):c.1308A>G (p.Gly436=) rs2518134590
NM_001429.4(EP300):c.1334T>A (p.Val445Glu) rs1407415699
NM_001429.4(EP300):c.1351C>G (p.Pro451Ala) rs151308825
NM_001429.4(EP300):c.1357C>G (p.Leu453Val) rs1315254953
NM_001429.4(EP300):c.1372C>G (p.Gln458Glu) rs2518134738
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) rs762400446
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) rs2518134890
NM_001429.4(EP300):c.1448A>T (p.Gln483Leu) rs2058919614
NM_001429.4(EP300):c.1456G>A (p.Val486Met)
NM_001429.4(EP300):c.1456G>C (p.Val486Leu) rs145739685
NM_001429.4(EP300):c.1465A>G (p.Lys489Glu) rs761121417
NM_001429.4(EP300):c.1467G>T (p.Lys489Asn) rs769024926
NM_001429.4(EP300):c.1478A>G (p.Asn493Ser)
NM_001429.4(EP300):c.1504G>A (p.Gly502Ser)
NM_001429.4(EP300):c.1527G>C (p.Met509Ile)
NM_001429.4(EP300):c.1528+17C>G rs1347166131
NM_001429.4(EP300):c.1528+19A>G
NM_001429.4(EP300):c.1528+3_1528+10del rs2518135140
NM_001429.4(EP300):c.1528+9G>A
NM_001429.4(EP300):c.1529-12A>G rs1230800729
NM_001429.4(EP300):c.1529-19T>G rs2518139041
NM_001429.4(EP300):c.1529-8T>C rs587783621
NM_001429.4(EP300):c.1553G>A (p.Gly518Glu) rs2518139144
NM_001429.4(EP300):c.1553G>C (p.Gly518Ala) rs2518139144
NM_001429.4(EP300):c.1572G>T (p.Thr524=)
NM_001429.4(EP300):c.1582C>T (p.Leu528Phe)
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 rs761696482
NM_001429.4(EP300):c.1634G>A (p.Ser545Asn) rs547550163
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) rs2518141323
NM_001429.4(EP300):c.1671A>G (p.Pro557=) rs2518141339
NM_001429.4(EP300):c.1672A>T (p.Thr558Ser) rs1057519397
NM_001429.4(EP300):c.1673C>G (p.Thr558Arg) rs2518141344
NM_001429.4(EP300):c.1673C>T (p.Thr558Ile) rs2518141344
NM_001429.4(EP300):c.1681C>G (p.Gln561Glu) rs2518141350
NM_001429.4(EP300):c.1686A>G (p.Pro562=) rs144993798
NM_001429.4(EP300):c.1702C>T (p.Arg568Trp)
NM_001429.4(EP300):c.1704G>C (p.Arg568=)
NM_001429.4(EP300):c.1709_1710del (p.Gln570fs) rs2518141380
NM_001429.4(EP300):c.1726A>T (p.Thr576Ser)
NM_001429.4(EP300):c.1729del (p.Gln577fs) rs2518141405
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+6_1760+9del rs2145722830
NM_001429.4(EP300):c.1761-10C>G rs917571102
NM_001429.4(EP300):c.1761-16G>A rs745888999
NM_001429.4(EP300):c.1761C>T (p.Leu587=) rs760772299
NM_001429.4(EP300):c.1810C>T (p.Arg604Trp) rs2145724948
NM_001429.4(EP300):c.1814dup (p.Met605fs) rs2518143785
NM_001429.4(EP300):c.1839G>A (p.Arg613=) rs1377327215
NM_001429.4(EP300):c.1861G>A (p.Glu621Lys) rs778829658
NM_001429.4(EP300):c.1878+19dup rs747624858
NM_001429.4(EP300):c.1878+1G>A rs2058974109
NM_001429.4(EP300):c.189G>C (p.Gln63His) rs772562025
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) rs973317775
NM_001429.4(EP300):c.1989C>T (p.Gly663=) rs1291428868
NM_001429.4(EP300):c.1996C>T (p.Pro666Ser) rs2145726264
NM_001429.4(EP300):c.19G>C (p.Glu7Gln)
NM_001429.4(EP300):c.2006T>A (p.Met669Lys)
NM_001429.4(EP300):c.2023A>G (p.Met675Val) rs1394264199
NM_001429.4(EP300):c.2041G>A (p.Gly681Arg) rs2145726493
NM_001429.4(EP300):c.2052T>G (p.Ser684=) rs2145726551
NM_001429.4(EP300):c.2053+17A>G rs2145726597
NM_001429.4(EP300):c.2053+5G>C rs2518145440
NM_001429.4(EP300):c.2054-16C>T rs1182751059
NM_001429.4(EP300):c.2064dup (p.Pro689fs) rs1601617062
NM_001429.4(EP300):c.2067T>C (p.Pro689=) rs2145732276
NM_001429.4(EP300):c.208A>G (p.Met70Val) rs1569090318
NM_001429.4(EP300):c.2104A>G (p.Met702Val) rs1258333494
NM_001429.4(EP300):c.211G>A (p.Val71Ile)
NM_001429.4(EP300):c.2122C>A (p.Pro708Thr) rs992638094
NM_001429.4(EP300):c.2131+18_2131+19inv
NM_001429.4(EP300):c.2131+24dup rs766192274
NM_001429.4(EP300):c.2132-1G>A rs2145734002
NM_001429.4(EP300):c.2132-8A>T rs2517795104
NM_001429.4(EP300):c.2164dup (p.Gln722fs) rs879253873
NM_001429.4(EP300):c.2167C>A (p.Pro723Thr) rs755152564
NM_001429.4(EP300):c.2184G>A (p.Arg728=) rs187938527
NM_001429.4(EP300):c.2187A>G (p.Gln729=)
NM_001429.4(EP300):c.2203C>T (p.His735Tyr) rs2145734259
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.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.2261G>A (p.Arg754His) rs544338126
NM_001429.4(EP300):c.2261G>C (p.Arg754Pro) rs544338126
NM_001429.4(EP300):c.2261G>T (p.Arg754Leu) rs544338126
NM_001429.4(EP300):c.2279A>C (p.Asn760Thr)
NM_001429.4(EP300):c.2279A>T (p.Asn760Ile) rs374502005
NM_001429.4(EP300):c.2302A>G (p.Thr768Ala) rs2145735923
NM_001429.4(EP300):c.2313A>G (p.Pro771=)
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 rs2059032372
NM_001429.4(EP300):c.2398T>G (p.Ser800Ala) rs932158547
NM_001429.4(EP300):c.2452C>A (p.His818Asn)
NM_001429.4(EP300):c.2461_2470del (p.Gln821fs) rs2517797695
NM_001429.4(EP300):c.2462A>T (p.Gln821Leu) rs2517797702
NM_001429.4(EP300):c.2463G>A (p.Gln821=)
NM_001429.4(EP300):c.2504T>C (p.Val835Ala)
NM_001429.4(EP300):c.2507C>T (p.Pro836Leu) rs1192330545
NM_001429.4(EP300):c.2520C>T (p.Pro840=) rs200111935
NM_001429.4(EP300):c.2534C>G (p.Thr845Ser) rs202070031
NM_001429.4(EP300):c.2534C>T (p.Thr845Ile) rs202070031
NM_001429.4(EP300):c.2537C>T (p.Pro846Leu)
NM_001429.4(EP300):c.2539C>G (p.Pro847Ala) rs764698803
NM_001429.4(EP300):c.2548G>T (p.Gly850Trp) rs894531031
NM_001429.4(EP300):c.2550G>T (p.Gly850=) rs2517797931
NM_001429.4(EP300):c.2556G>T (p.Gln852His)
NM_001429.4(EP300):c.2567CAA[2] (p.Thr858del) rs770125372
NM_001429.4(EP300):c.2567CAA[4] (p.Thr858_Ile859insThr) rs770125372
NM_001429.4(EP300):c.2573C>T (p.Thr858Ile) rs751375792
NM_001429.4(EP300):c.257G>A (p.Arg86Gln) rs147121738
NM_001429.4(EP300):c.2584C>G (p.Pro862Ala)
NM_001429.4(EP300):c.2591C>T (p.Pro864Leu) rs2517798001
NM_001429.4(EP300):c.2598T>A (p.Pro866=) rs1601619708
NM_001429.4(EP300):c.2636A>C (p.His879Pro) rs747453239
NM_001429.4(EP300):c.2641C>T (p.Pro881Ser) rs1341258230
NM_001429.4(EP300):c.2647A>G (p.Arg883Gly) rs2059034589
NM_001429.4(EP300):c.2657C>G (p.Pro886Arg) rs1436028814
NM_001429.4(EP300):c.2659A>G (p.Thr887Ala)
NM_001429.4(EP300):c.2660C>T (p.Thr887Ile) rs953108559
NM_001429.4(EP300):c.268T>C (p.Ser90Pro)
NM_001429.4(EP300):c.2690T>C (p.Val897Ala) rs1239883671
NM_001429.4(EP300):c.2720C>T (p.Ala907Val) rs757344870
NM_001429.4(EP300):c.2734C>T (p.Gln912Ter) rs2145737748
NM_001429.4(EP300):c.2736G>T (p.Gln912His) rs1171907394
NM_001429.4(EP300):c.2749C>T (p.Gln917Ter)
NM_001429.4(EP300):c.2781A>G (p.Pro927=)
NM_001429.4(EP300):c.2790G>A (p.Pro930=)
NM_001429.4(EP300):c.2802G>T (p.Pro934=) rs201374098
NM_001429.4(EP300):c.286G>A (p.Gly96Arg)
NM_001429.4(EP300):c.287G>A (p.Gly96Glu) rs779548244
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 rs2145744468
NM_001429.4(EP300):c.3143-15C>A rs1569109899
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 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.3166C>T (p.Gln1056Ter) rs1601623271
NM_001429.4(EP300):c.3178C>T (p.Pro1060Ser) rs2059069019
NM_001429.4(EP300):c.320A>G (p.Gln107Arg) rs2145696747
NM_001429.4(EP300):c.3258C>A (p.Ile1086=) rs2517804360
NM_001429.4(EP300):c.3261+10T>C
NM_001429.4(EP300):c.3262-13C>T
NM_001429.4(EP300):c.3262-9T>C
NM_001429.4(EP300):c.3285C>T (p.Ser1095=) rs971045982
NM_001429.4(EP300):c.3310A>G (p.Arg1104Gly) rs2517806277
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.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) rs756031537
NM_001429.4(EP300):c.3397C>T (p.Arg1133Trp) rs1203250209
NM_001429.4(EP300):c.3410G>A (p.Arg1137Gln) rs757413185
NM_001429.4(EP300):c.3417C>T (p.Tyr1139=) rs952398016
NM_001429.4(EP300):c.342A>G (p.Gly114=) rs2518115923
NM_001429.4(EP300):c.3438_3439del (p.Glu1147fs) rs1601624754
NM_001429.4(EP300):c.3458T>A (p.Ile1153Asn) rs2145747791
NM_001429.4(EP300):c.346G>A (p.Gly116Ser) rs1320689399
NM_001429.4(EP300):c.3485dup (p.Tyr1162Ter) rs1601624790
NM_001429.4(EP300):c.3502-17A>C
NM_001429.4(EP300):c.3553A>G (p.Ile1185Val) rs1489896703
NM_001429.4(EP300):c.3568A>G (p.Thr1190Ala) rs975609094
NM_001429.4(EP300):c.3589A>T (p.Arg1197Trp) rs1340981566
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) rs2517810995
NM_001429.4(EP300):c.3644del (p.Leu1215fs) rs2517811066
NM_001429.4(EP300):c.3644dup (p.Leu1215fs) rs2517811066
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 rs2517811213
NM_001429.4(EP300):c.3671+1G>A rs2059103511
NM_001429.4(EP300):c.3671+5G>C rs2145752629
NM_001429.4(EP300):c.3671+5_3671+7dup rs774612000
NM_001429.4(EP300):c.3672-9T>C
NM_001429.4(EP300):c.3672_3673dup (p.Thr1225fs) rs2517813357
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) rs2517813382
NM_001429.4(EP300):c.3694T>A (p.Ser1232Thr)
NM_001429.4(EP300):c.369_370dup (p.Ser124fs) rs2518115992
NM_001429.4(EP300):c.3707dup (p.Asn1236fs) rs1601628237
NM_001429.4(EP300):c.3728+13C>T rs1268232581
NM_001429.4(EP300):c.3728+5G>C rs1114167305
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 rs753733347
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) rs2517815239
NM_001429.4(EP300):c.373C>A (p.Pro125Thr)
NM_001429.4(EP300):c.3750C>G (p.Cys1250Trp) rs747187417
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) rs2517815363
NM_001429.4(EP300):c.3806+11A>G rs2517815386
NM_001429.4(EP300):c.3806+3A>G rs1601629363
NM_001429.4(EP300):c.3807-12G>A rs2059135828
NM_001429.4(EP300):c.3807-15_3807-14del
NM_001429.4(EP300):c.3807-7C>T rs1200883341
NM_001429.4(EP300):c.3810C>T (p.Phe1270=) rs760116084
NM_001429.4(EP300):c.3811G>A (p.Val1271Ile)
NM_001429.4(EP300):c.3815G>C (p.Cys1272Ser) rs2517817656
NM_001429.4(EP300):c.3819T>C (p.Asp1273=) rs2145759320
NM_001429.4(EP300):c.3826_3827dup (p.Leu1276fs) rs2145759333
NM_001429.4(EP300):c.3838G>T (p.Ala1280Ser) rs2059136013
NM_001429.4(EP300):c.3858_3859dup (p.Lys1287fs) rs2517817714
NM_001429.4(EP300):c.3870T>C (p.Ala1290=)
NM_001429.4(EP300):c.3872A>C (p.Lys1291Thr) rs2517817737
NM_001429.4(EP300):c.3875-19_3875-18del rs751151231
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.3934C>T (p.Arg1312Ter) rs1555911075
NM_001429.4(EP300):c.3936A>T (p.Arg1312=) rs764315890
NM_001429.4(EP300):c.3984T>C (p.Ala1328=) rs1308482912
NM_001429.4(EP300):c.3996C>G (p.Thr1332=) rs142288817
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) rs2517820700
NM_001429.4(EP300):c.4020A>T (p.Lys1340Asn) rs2517820704
NM_001429.4(EP300):c.4026-11C>T rs2145763257
NM_001429.4(EP300):c.4026-9A>G rs2059153923
NM_001429.4(EP300):c.4044G>T (p.Glu1348Asp) rs2059154086
NM_001429.4(EP300):c.4065C>G (p.Tyr1355Ter) rs886043598
NM_001429.4(EP300):c.4066C>T (p.Arg1356Ter) rs1440862488
NM_001429.4(EP300):c.4067G>C (p.Arg1356Pro) rs1303184977
NM_001429.4(EP300):c.4070C>A (p.Thr1357Asn) rs1347049247
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.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=) rs776773800
NM_001429.4(EP300):c.4172+16A>C rs777335301
NM_001429.4(EP300):c.4173-15C>G rs1243904367
NM_001429.4(EP300):c.4173-17C>A rs928863480
NM_001429.4(EP300):c.4173-17_4173-8del
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) rs2517822537
NM_001429.4(EP300):c.4216_4219dup (p.Lys1407delinsThrTer) rs2145765098
NM_001429.4(EP300):c.4221A>G (p.Lys1407=) rs142802640
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.4265T>C (p.Leu1422Ser)
NM_001429.4(EP300):c.4287-1G>T rs2517823890
NM_001429.4(EP300):c.4287-20C>G rs778959566
NM_001429.4(EP300):c.4318C>A (p.Pro1440Thr) rs2145766457
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.4354C>T (p.Pro1452Ser)
NM_001429.4(EP300):c.4357C>A (p.Pro1453Thr) rs767216111
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=) rs2145766700
NM_001429.4(EP300):c.437G>A (p.Gly146Asp) rs760595859
NM_001429.4(EP300):c.4390C>T (p.Gln1464Ter) rs1601634247
NM_001429.4(EP300):c.4408dup (p.Met1470fs) rs2517824218
NM_001429.4(EP300):c.442A>G (p.Thr148Ala) rs764079704
NM_001429.4(EP300):c.4432C>T (p.Arg1478Cys) rs1445337631
NM_001429.4(EP300):c.4444_4445dup (p.Asp1482fs) rs2517824372
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+20_4452+21delinsTT rs2517824473
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 rs755372085
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) rs2059176610
NM_001429.4(EP300):c.4480A>G (p.Arg1494Gly) rs2145770020
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) rs2517826687
NM_001429.4(EP300):c.4511T>G (p.Phe1504Cys) rs1114167306
NM_001429.4(EP300):c.4513G>T (p.Glu1505Ter) rs1555911574
NM_001429.4(EP300):c.4529C>G (p.Pro1510Arg) rs1569118503
NM_001429.4(EP300):c.4532A>T (p.Asn1511Ile) rs763860567
NM_001429.4(EP300):c.4564_4572del (p.Gln1522_Glu1524del) rs2517826839
NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter) rs1569118537
NM_001429.4(EP300):c.4595del (p.Asn1532fs) rs2517826930
NM_001429.4(EP300):c.4611C>A (p.Ser1537Arg) rs1303397164
NM_001429.4(EP300):c.4613C>A (p.Thr1538Lys)
NM_001429.4(EP300):c.4617+17dup rs2517827041
NM_001429.4(EP300):c.4617+18C>T
NM_001429.4(EP300):c.4617+5G>A
NM_001429.4(EP300):c.4618-18_4618-17delinsTC rs2517827847
NM_001429.4(EP300):c.4653G>T (p.Lys1551Asn) rs1483018665
NM_001429.4(EP300):c.4668C>T (p.Thr1556=) rs2517827930
NM_001429.4(EP300):c.4687C>G (p.Leu1563Val) rs564848230
NM_001429.4(EP300):c.4687C>T (p.Leu1563=) rs564848230
NM_001429.4(EP300):c.4723A>G (p.Asn1575Asp) rs2059184127
NM_001429.4(EP300):c.4735G>T (p.Asp1579Tyr) rs760998327
NM_001429.4(EP300):c.4740C>T (p.Leu1580=) rs1333558378
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 rs775638492
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.4826_4833dup (p.Ile1612fs) rs2145512343
NM_001429.4(EP300):c.4828C>T (p.Pro1610Ser) rs1458591540
NM_001429.4(EP300):c.4829C>T (p.Pro1610Leu) rs771861948
NM_001429.4(EP300):c.4836dup (p.Val1613fs) rs797045559
NM_001429.4(EP300):c.4845T>G (p.Pro1615=) rs2517830828
NM_001429.4(EP300):c.4856T>A (p.Ile1619Asn)
NM_001429.4(EP300):c.4857C>G (p.Ile1619Met) rs1021520881
NM_001429.4(EP300):c.4873del (p.Asp1625fs) rs2145512676
NM_001429.4(EP300):c.4879C>T (p.Arg1627Trp)
NM_001429.4(EP300):c.4880G>A (p.Arg1627Gln)
NM_001429.4(EP300):c.4884T>C (p.Asp1628=) rs938606062
NM_001429.4(EP300):c.4920G>A (p.Glu1640=) rs765581834
NM_001429.4(EP300):c.4923C>G (p.Phe1641Leu) rs1167185688
NM_001429.4(EP300):c.4933C>T (p.Arg1645Ter) rs139310551
NM_001429.4(EP300):c.4934_4939del (p.Arg1645_Ala1647delinsPro) rs2517831125
NM_001429.4(EP300):c.4947dup (p.Ser1650fs) rs2517831169
NM_001429.4(EP300):c.494T>C (p.Met165Thr) rs2518116415
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) rs1319384976
NM_001429.4(EP300):c.4960A>G (p.Met1654Val) rs1319384976
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.5016A>G (p.Glu1672=)
NM_001429.4(EP300):c.5031G>A (p.Val1677=)
NM_001429.4(EP300):c.5053G>C (p.Val1685Leu) rs2145513962
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 rs765020740
NM_001429.4(EP300):c.5062-18C>T rs1339825681
NM_001429.4(EP300):c.5062-20A>C
NM_001429.4(EP300):c.5062-3T>C rs2517831861
NM_001429.4(EP300):c.5062-6C>T
NM_001429.4(EP300):c.5092A>T (p.Thr1698Ser) rs549834848
NM_001429.4(EP300):c.5122C>T (p.Leu1708=) rs2059203528
NM_001429.4(EP300):c.5153A>T (p.Asn1718Ile) rs1323901624
NM_001429.4(EP300):c.5154C>T (p.Asn1718=) rs2145515026
NM_001429.4(EP300):c.5210G>A (p.Arg1737His) rs1389352663
NM_001429.4(EP300):c.521A>G (p.Asn174Ser) rs2518116490
NM_001429.4(EP300):c.5231A>G (p.His1744Arg) rs2517832108
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.5268A>G (p.Pro1756=) rs1272929668
NM_001429.4(EP300):c.5288G>A (p.Arg1763Gln) rs2145515376
NM_001429.4(EP300):c.529A>G (p.Met177Val) rs2518116501
NM_001429.4(EP300):c.5313C>T (p.Cys1771=) rs1187590603
NM_001429.4(EP300):c.5327A>G (p.Asn1776Ser)
NM_001429.4(EP300):c.5331C>G (p.Gly1777=) rs558982627
NM_001429.4(EP300):c.5332G>A (p.Gly1778Arg) rs2059204658
NM_001429.4(EP300):c.5366GCT[1] (p.Cys1790del)
NM_001429.4(EP300):c.5388C>T (p.Cys1796=) rs748793403
NM_001429.4(EP300):c.5397C>T (p.Asn1799=)
NM_001429.4(EP300):c.5411C>T (p.Pro1804Leu) rs371065099
NM_001429.4(EP300):c.5412G>A (p.Pro1804=) rs368368055
NM_001429.4(EP300):c.5422A>C (p.Asn1808His) rs1569120861
NM_001429.4(EP300):c.5442G>A (p.Arg1814=) rs2145515906
NM_001429.4(EP300):c.546T>C (p.Asn182=) rs2518116541
NM_001429.4(EP300):c.5472G>C (p.Gln1824His) rs2145516016
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>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) rs2059205716
NM_001429.4(EP300):c.5526G>T (p.Gly1842=)
NM_001429.4(EP300):c.5527dup (p.Gln1843fs) rs2517832657
NM_001429.4(EP300):c.5532A>C (p.Gln1844His) rs1483819669
NM_001429.4(EP300):c.5546C>T (p.Ser1849Phe) rs1200933754
NM_001429.4(EP300):c.5547C>T (p.Ser1849=) rs2145516337
NM_001429.4(EP300):c.5556_5564del (p.Ala1853_Pro1855del) rs1555912151
NM_001429.4(EP300):c.5558C>G (p.Ala1853Gly) rs922820001
NM_001429.4(EP300):c.5560A>C (p.Thr1854Pro) rs2059206124
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) rs1297677732
NM_001429.4(EP300):c.5620CAGCCT[1] (p.1874QP[1]) rs767178802
NM_001429.4(EP300):c.5623C>T (p.Pro1875Ser)
NM_001429.4(EP300):c.5664C>G (p.Pro1888=) rs2145516994
NM_001429.4(EP300):c.5665A>G (p.Arg1889Gly) rs751791250
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) rs2145517071
NM_001429.4(EP300):c.5682C>T (p.Gly1894=)
NM_001429.4(EP300):c.5688_5689del (p.Ser1897fs) rs2517833003
NM_001429.4(EP300):c.5705C>T (p.Ala1902Val)
NM_001429.4(EP300):c.5713G>A (p.Val1905Met) rs2059207559
NM_001429.4(EP300):c.5718C>T (p.Thr1906=)
NM_001429.4(EP300):c.5723dup (p.Thr1909fs) rs1555912182
NM_001429.4(EP300):c.5729CTC[1] (p.Pro1911del) rs755668623
NM_001429.4(EP300):c.5737A>C (p.Thr1913Pro)
NM_001429.4(EP300):c.5747dup (p.Pro1917fs) rs1601640370
NM_001429.4(EP300):c.5752dup (p.Leu1918fs)
NM_001429.4(EP300):c.5759G>T (p.Gly1920Val) rs985714434
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.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) rs775556373
NM_001429.4(EP300):c.5874G>A (p.Pro1958=) rs755466610
NM_001429.4(EP300):c.5880dup (p.Pro1961fs) rs2517833527
NM_001429.4(EP300):c.5888C>A (p.Ala1963Asp) rs754423861
NM_001429.4(EP300):c.5894dup (p.Met1965fs) rs2517833590
NM_001429.4(EP300):c.5897del (p.Gly1966fs) rs2517833597
NM_001429.4(EP300):c.5943G>T (p.Glu1981Asp) rs955056237
NM_001429.4(EP300):c.5954_5968dup (p.Met1989_Gln1990insArgProThrGlyMet)
NM_001429.4(EP300):c.5957C>A (p.Pro1986Gln) rs144626200
NM_001429.4(EP300):c.5961_5962del (p.Gly1988fs) rs2517833741
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=) rs760227533
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) rs753072432
NM_001429.4(EP300):c.6045G>T (p.Met2015Ile) rs753072432
NM_001429.4(EP300):c.605G>A (p.Arg202Gln)
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.6121_6124del (p.Leu2041fs) rs2059211409
NM_001429.4(EP300):c.6131G>A (p.Gly2044Asp) rs1457697396
NM_001429.4(EP300):c.6142CAA[1] (p.Gln2049del) rs2517834165
NM_001429.4(EP300):c.6148G>C (p.Ala2050Pro) rs2145519545
NM_001429.4(EP300):c.6149C>G (p.Ala2050Gly)
NM_001429.4(EP300):c.6160C>A (p.Leu2054Ile) rs2517834207
NM_001429.4(EP300):c.6165G>A (p.Leu2055=) rs2059211682
NM_001429.4(EP300):c.6166C>T (p.Arg2056Trp) rs752770043
NM_001429.4(EP300):c.6171_6175del (p.Leu2058fs)
NM_001429.4(EP300):c.6181C>T (p.Pro2061Ser)
NM_001429.4(EP300):c.6195G>A (p.Leu2065=) rs746384848
NM_001429.4(EP300):c.6196C>T (p.Gln2066Ter) rs1555912238
NM_001429.4(EP300):c.6204A>C (p.Gln2068His) rs1407259552
NM_001429.4(EP300):c.6240G>C (p.Leu2080=) rs1006520558
NM_001429.4(EP300):c.6245C>G (p.Ala2082Gly) rs2517834375
NM_001429.4(EP300):c.6252C>T (p.Phe2084=)
NM_001429.4(EP300):c.6262C>T (p.Arg2088Trp) rs201569846
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) rs2517834474
NM_001429.4(EP300):c.6312_6332del (p.Met2106_Gly2112del) rs755425119
NM_001429.4(EP300):c.6323del (p.Gln2108fs) rs2517834553
NM_001429.4(EP300):c.6344C>T (p.Pro2115Leu)
NM_001429.4(EP300):c.6350C>T (p.Thr2117Ile) rs2059213237
NM_001429.4(EP300):c.6366G>T (p.Gln2122His)
NM_001429.4(EP300):c.6374A>G (p.His2125Arg) rs886057568
NM_001429.4(EP300):c.638del (p.Gly213fs) rs1569090642
NM_001429.4(EP300):c.6394A>G (p.Asn2132Asp) rs2517834698
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) rs773555512
NM_001429.4(EP300):c.6414G>T (p.Ala2138=) rs374679651
NM_001429.4(EP300):c.6425G>A (p.Arg2142Lys)
NM_001429.4(EP300):c.6444G>A (p.Gln2148=) rs2145520747
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) rs2145520770
NM_001429.4(EP300):c.6449_6460del (p.2146PQQQ[1]) rs758586599
NM_001429.4(EP300):c.6454C>T (p.Gln2152Ter) rs2517834847
NM_001429.4(EP300):c.6455_6466dup (p.Gln2155_Pro2156insGlnGlnLeuGln) rs1352758271
NM_001429.4(EP300):c.6467C>T (p.Pro2156Leu) rs2517834869
NM_001429.4(EP300):c.6472A>G (p.Met2158Val) rs1367145568
NM_001429.4(EP300):c.6489C>G (p.Pro2163=) rs2059214487
NM_001429.4(EP300):c.6504G>A (p.Met2168Ile) rs566357328
NM_001429.4(EP300):c.6508A>G (p.Met2170Val) rs1419903766
NM_001429.4(EP300):c.6509T>C (p.Met2170Thr) rs2517834950
NM_001429.4(EP300):c.650dup (p.Asn217fs) rs2145697647
NM_001429.4(EP300):c.6520A>G (p.Thr2174Ala) rs5758252
NM_001429.4(EP300):c.6523A>G (p.Met2175Val) rs758104803
NM_001429.4(EP300):c.6526C>A (p.Pro2176Thr) rs779543207
NM_001429.4(EP300):c.6533A>G (p.Gln2178Arg) rs754808991
NM_001429.4(EP300):c.6543C>T (p.Asp2181=) rs149611960
NM_001429.4(EP300):c.6546C>A (p.Ile2182=) rs1259603610
NM_001429.4(EP300):c.6549G>C (p.Leu2183Phe)
NM_001429.4(EP300):c.6561A>G (p.Gln2187=) rs2059215166
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.6594G>A (p.Gly2198=) rs1373568802
NM_001429.4(EP300):c.6599G>C (p.Gly2200Ala) rs766113308
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=) rs778982671
NM_001429.4(EP300):c.6642C>G (p.Pro2214=) rs147355603
NM_001429.4(EP300):c.6657C>T (p.Tyr2219=) rs2145521664
NM_001429.4(EP300):c.6667C>A (p.Gln2223Lys) rs2145521728
NM_001429.4(EP300):c.6676C>T (p.Arg2226Trp)
NM_001429.4(EP300):c.6691del (p.Met2231fs) rs1601641819
NM_001429.4(EP300):c.6716T>C (p.Met2239Thr) rs775274711
NM_001429.4(EP300):c.6739dup (p.Gln2247fs) rs2145522089
NM_001429.4(EP300):c.6743C>T (p.Ala2248Val) rs750553966
NM_001429.4(EP300):c.6747G>C (p.Leu2249Phe) rs758459646
NM_001429.4(EP300):c.6749G>T (p.Gly2250Val) rs1461589152
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.6782A>G (p.Gln2261Arg) rs2059217064
NM_001429.4(EP300):c.6786G>C (p.Gln2262His) rs2059217082
NM_001429.4(EP300):c.6787C>T (p.Arg2263Ter) rs1354580969
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.6804G>C (p.Gln2268His)
NM_001429.4(EP300):c.6805A>T (p.Met2269Leu) rs1316610590
NM_001429.4(EP300):c.680C>T (p.Ser227Phe) rs773141352
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) rs2517835542
NM_001429.4(EP300):c.6840C>T (p.Pro2280=) rs2145522511
NM_001429.4(EP300):c.6867C>T (p.Ala2289=) rs375883849
NM_001429.4(EP300):c.6888C>T (p.Gly2296=) rs1002354415
NM_001429.4(EP300):c.6907C>G (p.Leu2303Val) rs144787962
NM_001429.4(EP300):c.6915_6918del (p.Asn2305fs) rs797045560
NM_001429.4(EP300):c.6920T>G (p.Val2307Gly) rs766271527
NM_001429.4(EP300):c.6958T>C (p.Ser2320Pro) rs768211521
NM_001429.4(EP300):c.695G>C (p.Gly232Ala) rs1261612920
NM_001429.4(EP300):c.6970C>A (p.His2324Asn) rs202094489
NM_001429.4(EP300):c.6973_6975dup (p.Ser2326_Pro2327insSer) rs2517835831
NM_001429.4(EP300):c.6975C>G (p.Ser2325=)
NM_001429.4(EP300):c.6975C>T (p.Ser2325=) rs200271896
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.6994C>A (p.Gln2332Lys)
NM_001429.4(EP300):c.7013A>G (p.His2338Arg) rs755811743
NM_001429.4(EP300):c.7014_7028del (p.His2338_Pro2342del) rs1601642386
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) rs560504491
NM_001429.4(EP300):c.7064A>G (p.Gln2355Arg) rs2059220210
NM_001429.4(EP300):c.706T>A (p.Leu236Met) rs370931638
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=) rs755615658
NM_001429.4(EP300):c.708G>C (p.Leu236Phe)
NM_001429.4(EP300):c.7094C>T (p.Ala2365Val) rs1288457396
NM_001429.4(EP300):c.7098C>T (p.Ser2366=) rs1601642534
NM_001429.4(EP300):c.7100del (p.Pro2367fs) rs1569122847
NM_001429.4(EP300):c.7106A>G (p.Gln2369Arg) rs778796762
NM_001429.4(EP300):c.7120T>G (p.Ser2374Ala) rs768864659
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) rs2517836154
NM_001429.4(EP300):c.7134C>T (p.Ser2378=) rs2145524235
NM_001429.4(EP300):c.7135A>G (p.Asn2379Asp) rs202225885
NM_001429.4(EP300):c.7138C>T (p.Pro2380Ser) rs2145524260
NM_001429.4(EP300):c.7153C>T (p.Leu2385Phe) rs752065194
NM_001429.4(EP300):c.7158T>C (p.His2386=)
NM_001429.4(EP300):c.7179G>A (p.Leu2393=)
NM_001429.4(EP300):c.7183C>G (p.Leu2395Val) rs773300219
NM_001429.4(EP300):c.7186A>C (p.Ser2396Arg) rs764376096
NM_001429.4(EP300):c.7186A>G (p.Ser2396Gly)
NM_001429.4(EP300):c.7189A>C (p.Thr2397Pro) rs2145524640
NM_001429.4(EP300):c.7192G>A (p.Asp2398Asn)
NM_001429.4(EP300):c.7202A>G (p.Asp2401Gly)
NM_001429.4(EP300):c.7216C>T (p.Leu2406Phe) rs1172315931
NM_001429.4(EP300):c.721C>T (p.Pro241Ser) rs2058830075
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.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.730-18_730-9del rs61120041
NM_001429.4(EP300):c.730-3del
NM_001429.4(EP300):c.730-5C>T rs371539664
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) rs2058879102
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=) rs1569094928
NM_001429.4(EP300):c.759T>C (p.Tyr253=) rs1569094941
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) rs980878885
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) rs763554446
NM_001429.4(EP300):c.864T>C (p.Ala288=) rs2058880218
NM_001429.4(EP300):c.887G>T (p.Gly296Val) rs2145708053
NM_001429.4(EP300):c.899C>G (p.Pro300Arg)
NM_001429.4(EP300):c.901A>G (p.Asn301Asp) rs2145708100
NM_001429.4(EP300):c.933G>A (p.Gln311=)
NM_001429.4(EP300):c.937C>G (p.Pro313Ala)
NM_001429.4(EP300):c.95-3T>C rs949538020
NM_001429.4(EP300):c.95-9T>C rs2518115298
NM_001429.4(EP300):c.952C>T (p.Pro318Ser) rs762647727
NM_001429.4(EP300):c.960C>T (p.Ala320=) rs2145710114
NM_001429.4(EP300):c.963A>G (p.Gln321=) rs1216571196
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.991G>A (p.Asp331Asn) rs2518129853
NM_001429.4(EP300):c.9G>T (p.Glu3Asp) rs2058682150
NM_001429.4:c.730_1760del

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