ClinVar Miner

List of variants studied for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 878
Download table as spreadsheet
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.4618-18C>T rs2076578 0.25729
NM_001429.4(EP300):c.4452+20C>T rs6002271 0.24366
NM_001429.4(EP300):c.2989A>G (p.Ile997Val) rs20551 0.22427
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.2998-12G>A rs115849119 0.00836
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.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.2998-14dup rs560058125 0.00083
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.94+13A>G rs201124490 0.00062
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.3105C>T (p.Thr1035=) rs150498069 0.00048
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.3063T>C (p.Thr1021=) rs142431552 0.00043
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.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.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.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.2916T>C (p.Pro972=) rs142769483 0.00014
NM_001429.4(EP300):c.3537C>A (p.Gly1179=) rs148939960 0.00014
NM_001429.4(EP300):c.5361C>T (p.Ala1787=) rs200552141 0.00014
NM_001429.4(EP300):c.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.2925A>G (p.Glu975=) rs75752076 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.45G>A (p.Arg15=) rs752119517 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.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.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.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.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.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.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.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.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.579C>T (p.Asn193=) rs376004661 0.00002
NM_001429.4(EP300):c.5914A>G (p.Met1972Val) rs373725137 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.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.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.2975C>A (p.Thr992Asn) rs760974878 0.00001
NM_001429.4(EP300):c.2997+12G>A rs372770495 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.3875-8A>C rs747796024 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.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.650A>G (p.Asn217Ser) rs139130083 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
NC_000022.10:g.(?_41074407)_(41489122_?)del
NC_000022.10:g.(?_41553153)_(41554524_?)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_001429.4(EP300):c.1044T>C (p.Ala348=)
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.1077G>A (p.Gly359=)
NM_001429.4(EP300):c.1113A>G (p.Thr371=)
NM_001429.4(EP300):c.1128A>G (p.Leu376=)
NM_001429.4(EP300):c.1152A>G (p.Ser384=)
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.1169-19T>A
NM_001429.4(EP300):c.1169-4T>C
NM_001429.4(EP300):c.1226A>G (p.His409Arg)
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.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.1403A>T (p.Tyr468Phe) rs587778262
NM_001429.4(EP300):c.1420C>T (p.Pro474Ser)
NM_001429.4(EP300):c.1443_1444delinsAC (p.Thr482Pro)
NM_001429.4(EP300):c.1449A>C (p.Gln483His)
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.151A>G (p.Thr51Ala)
NM_001429.4(EP300):c.1528+17C>G
NM_001429.4(EP300):c.1529-12A>G
NM_001429.4(EP300):c.1529-19T>G
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.1585T>C (p.Ser529Pro)
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.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.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.170A>G (p.Asn57Ser)
NM_001429.4(EP300):c.1729del (p.Gln577fs)
NM_001429.4(EP300):c.1760+11T>C
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.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.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.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.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.2122C>A (p.Pro708Thr)
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.2132-8A>T
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.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.2242-15T>G
NM_001429.4(EP300):c.2242-17T>G
NM_001429.4(EP300):c.2242-7T>C
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>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.231A>G (p.Lys77=)
NM_001429.4(EP300):c.2380-19_2380-15del
NM_001429.4(EP300):c.2398T>G (p.Ser800Ala)
NM_001429.4(EP300):c.2462A>T (p.Gln821Leu)
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.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.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.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.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.2676A>G (p.Gln892=)
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.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.2789C>T (p.Pro930Leu)
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.2818-18C>T
NM_001429.4(EP300):c.2818-19C>A
NM_001429.4(EP300):c.2818-20T>G
NM_001429.4(EP300):c.2818-5C>T
NM_001429.4(EP300):c.2818-8C>G
NM_001429.4(EP300):c.2829A>G (p.Pro943=)
NM_001429.4(EP300):c.2838C>G (p.Ser946Arg) rs2059047440
NM_001429.4(EP300):c.2864C>A (p.Pro955Gln)
NM_001429.4(EP300):c.2868T>C (p.Ser956=)
NM_001429.4(EP300):c.2870C>G (p.Thr957Ser)
NM_001429.4(EP300):c.2872A>G (p.Ser958Gly)
NM_001429.4(EP300):c.2876G>T (p.Ser959Ile) rs1308182502
NM_001429.4(EP300):c.287G>A (p.Gly96Glu)
NM_001429.4(EP300):c.2889T>C (p.Asn963=)
NM_001429.4(EP300):c.2891C>A (p.Ser964Tyr)
NM_001429.4(EP300):c.2894A>T (p.Gln965Leu)
NM_001429.4(EP300):c.2898C>T (p.Ala966=)
NM_001429.4(EP300):c.28C>T (p.Pro10Ser) rs2145665490
NM_001429.4(EP300):c.2913G>C (p.Gln971His)
NM_001429.4(EP300):c.2915C>T (p.Pro972Leu)
NM_001429.4(EP300):c.2917T>G (p.Ser973Ala)
NM_001429.4(EP300):c.2940C>T (p.Ala980=)
NM_001429.4(EP300):c.2946G>A (p.Met982Ile)
NM_001429.4(EP300):c.2955T>A (p.Asp985Glu)
NM_001429.4(EP300):c.2965C>A (p.Pro989Thr)
NM_001429.4(EP300):c.2974A>G (p.Thr992Ala)
NM_001429.4(EP300):c.2975C>G (p.Thr992Ser)
NM_001429.4(EP300):c.2982G>A (p.Pro994=)
NM_001429.4(EP300):c.2983G>T (p.Glu995Ter) rs1555909666
NM_001429.4(EP300):c.2997+10G>A
NM_001429.4(EP300):c.2997+14A>G
NM_001429.4(EP300):c.2998-13C>T
NM_001429.4(EP300):c.2998-13del
NM_001429.4(EP300):c.2998-3del rs528974321
NM_001429.4(EP300):c.3030C>G (p.Thr1010=) rs148414681
NM_001429.4(EP300):c.3030C>T (p.Thr1010=) rs148414681
NM_001429.4(EP300):c.3031G>C (p.Glu1011Gln) rs775368605
NM_001429.4(EP300):c.3045A>G (p.Arg1015=)
NM_001429.4(EP300):c.3070_3074del (p.Lys1024fs) rs1555909697
NM_001429.4(EP300):c.3084C>A (p.Asp1028Glu)
NM_001429.4(EP300):c.3116C>T (p.Pro1039Leu)
NM_001429.4(EP300):c.3118G>A (p.Ala1040Thr) rs2145741097
NM_001429.4(EP300):c.3123A>G (p.Pro1041=)
NM_001429.4(EP300):c.3138A>G (p.Lys1046=)
NM_001429.4(EP300):c.3142+17A>T
NM_001429.4(EP300):c.3142+20C>T
NM_001429.4(EP300):c.3142+8T>C
NM_001429.4(EP300):c.3143-12T>C
NM_001429.4(EP300):c.3143-15C>A
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.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+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.3282G>A (p.Lys1094=)
NM_001429.4(EP300):c.3310A>G (p.Arg1104Gly)
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.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.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.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.3589A>T (p.Arg1197Trp) rs1340981566
NM_001429.4(EP300):c.3590+4A>T
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.3659C>G (p.Ser1220Cys)
NM_001429.4(EP300):c.3671+16A>C
NM_001429.4(EP300):c.3671+5_3671+7dup
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.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+8C>T
NM_001429.4(EP300):c.3728+9G>A
NM_001429.4(EP300):c.3728T>A (p.Leu1243Gln)
NM_001429.4(EP300):c.3729-1G>T rs2145756375
NM_001429.4(EP300):c.3729-6T>C
NM_001429.4(EP300):c.3729-8T>C
NM_001429.4(EP300):c.3752G>A (p.Gly1251Glu)
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.3807-7C>T
NM_001429.4(EP300):c.3810C>T (p.Phe1270=)
NM_001429.4(EP300):c.3819T>C (p.Asp1273=)
NM_001429.4(EP300):c.3827T>C (p.Leu1276Ser)
NM_001429.4(EP300):c.383A>T (p.Gln128Leu)
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.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.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.4173-4A>G
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.4256T>C (p.Ile1419Thr)
NM_001429.4(EP300):c.4287-1G>T
NM_001429.4(EP300):c.4287-20C>G
NM_001429.4(EP300):c.4331A>G (p.Asp1444Gly) rs1569117388
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.4377G>A (p.Lys1459=)
NM_001429.4(EP300):c.437G>A (p.Gly146Asp)
NM_001429.4(EP300):c.442A>G (p.Thr148Ala)
NM_001429.4(EP300):c.4433G>A (p.Arg1478His)
NM_001429.4(EP300):c.443C>T (p.Thr148Met)
NM_001429.4(EP300):c.4444_4445dup (p.Asp1482fs)
NM_001429.4(EP300):c.4452+18G>A rs548353389
NM_001429.4(EP300):c.4452+20_4452+21delinsTT
NM_001429.4(EP300):c.4453-6T>C
NM_001429.4(EP300):c.4465C>T (p.Gln1489Ter)
NM_001429.4(EP300):c.4480A>G (p.Arg1494Gly)
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
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.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.4617+10T>C
NM_001429.4(EP300):c.4617+13A>G
NM_001429.4(EP300):c.4617+17dup
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.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.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.4756G>T (p.Ala1586Ser) rs1480723806
NM_001429.4(EP300):c.4763T>C (p.Met1588Thr) rs1057521737
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.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.47C>G (p.Pro16Arg)
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.4845T>G (p.Pro1615=)
NM_001429.4(EP300):c.4857C>G (p.Ile1619Met)
NM_001429.4(EP300):c.4873del (p.Asp1625fs) rs2145512676
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.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.5007C>G (p.Thr1669=)
NM_001429.4(EP300):c.5053G>C (p.Val1685Leu)
NM_001429.4(EP300):c.5062-15C>T
NM_001429.4(EP300):c.5062-18C>T
NM_001429.4(EP300):c.5062-3T>C
NM_001429.4(EP300):c.5062-5C>T rs1601639609
NM_001429.4(EP300):c.5076T>C (p.Cys1692=)
NM_001429.4(EP300):c.5088T>C (p.Tyr1696=)
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.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.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.5388C>T (p.Cys1796=)
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.5493G>A (p.Arg1831=)
NM_001429.4(EP300):c.5510G>A (p.Arg1837Gln) rs755471385
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.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.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.5678C>T (p.Ala1893Val)
NM_001429.4(EP300):c.5685T>C (p.Pro1895=)
NM_001429.4(EP300):c.5713G>A (p.Val1905Met)
NM_001429.4(EP300):c.5719C>T (p.Pro1907Ser)
NM_001429.4(EP300):c.5727C>T (p.Thr1909=)
NM_001429.4(EP300):c.5729CTC[1] (p.Pro1911del)
NM_001429.4(EP300):c.5759G>T (p.Gly1920Val)
NM_001429.4(EP300):c.5784G>C (p.Met1928Ile)
NM_001429.4(EP300):c.5807C>T (p.Ala1936Val) rs1301825643
NM_001429.4(EP300):c.5838A>G (p.Gln1946=)
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.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.5979A>G (p.Pro1993=)
NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser) rs1210404526
NM_001429.4(EP300):c.6015A>G (p.Gln2005=)
NM_001429.4(EP300):c.6045G>A (p.Met2015Ile)
NM_001429.4(EP300):c.6045G>T (p.Met2015Ile)
NM_001429.4(EP300):c.6090A>G (p.Gln2030=)
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.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.615G>T (p.Met205Ile)
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.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.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.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.6298_6317del (p.Ile2100fs)
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.6351C>T (p.Thr2117=)
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.6394A>G (p.Asn2132Asp)
NM_001429.4(EP300):c.63G>C (p.Pro21=)
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.6435_6446dup (p.Gln2153_Leu2154insProGlnGlnGln)
NM_001429.4(EP300):c.6444G>A (p.Gln2148=)
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.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.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.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.6561A>G (p.Gln2187=)
NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del) rs875989807
NM_001429.4(EP300):c.6594G>A (p.Gly2198=)
NM_001429.4(EP300):c.6599G>C (p.Gly2200Ala)
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.6657C>T (p.Tyr2219=) rs2145521664
NM_001429.4(EP300):c.6659C>G (p.Pro2220Arg)
NM_001429.4(EP300):c.6667C>A (p.Gln2223Lys)
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.6696A>G (p.Gln2232=)
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.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.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.6805A>T (p.Met2269Leu)
NM_001429.4(EP300):c.680C>T (p.Ser227Phe)
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.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>T (p.Ser2325=)
NM_001429.4(EP300):c.6984C>A (p.Ser2328=) rs200478275
NM_001429.4(EP300):c.6988A>G (p.Arg2330Gly)
NM_001429.4(EP300):c.7011A>G (p.Pro2337=)
NM_001429.4(EP300):c.7013A>G (p.His2338Arg)
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.7070A>G (p.Asn2357Ser) rs147304540
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.7094C>T (p.Ala2365Val)
NM_001429.4(EP300):c.7098C>T (p.Ser2366=)
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.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.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.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.7189A>C (p.Thr2397Pro)
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.7221A>G (p.Ser2407=) rs964396023
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.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.730-5C>T
NM_001429.4(EP300):c.730-7_730-2del rs762256767
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.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.75G>A (p.Ala25=)
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.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.88G>A (p.Gly30Ser)
NM_001429.4(EP300):c.898C>T (p.Pro300Ser)
NM_001429.4(EP300):c.901A>G (p.Asn301Asp)
NM_001429.4(EP300):c.907-14G>A
NM_001429.4(EP300):c.94+10G>A
NM_001429.4(EP300):c.94+12C>T
NM_001429.4(EP300):c.94+17C>T
NM_001429.4(EP300):c.94+18_94+19insTC
NM_001429.4(EP300):c.94+19G>A
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.984T>C (p.His328=)
NM_001429.4(EP300):c.991G>A (p.Asp331Asn)
NM_001429.4(EP300):c.9G>T (p.Glu3Asp)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.