ClinVar Miner

List of variants in gene EP300 reported as likely benign for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 460
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.2499G>A (p.Ser833=) rs35560602 0.01700
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.6390G>A (p.Met2130Ile) rs147973806 0.00093
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly) rs146242251 0.00090
NM_001429.4(EP300):c.2054-3T>C rs375287913 0.00072
NM_001429.4(EP300):c.2656C>T (p.Pro886Ser) rs148308496 0.00070
NM_001429.4(EP300):c.316A>G (p.Ser106Gly) rs150245975 0.00051
NM_001429.4(EP300):c.6417C>T (p.Gly2139=) rs111315183 0.00045
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.1283-20A>G rs138758404 0.00026
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 0.00023
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.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.5361C>T (p.Ala1787=) rs200552141 0.00014
NM_001429.4(EP300):c.1539T>C (p.Pro513=) rs377140865 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.448T>C (p.Ser150Pro) rs138241570 0.00012
NM_001429.4(EP300):c.2352G>A (p.Pro784=) rs140684440 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.2787A>G (p.Ala929=) rs143690368 0.00011
NM_001429.4(EP300):c.3352G>A (p.Val1118Ile) rs368486518 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.7167C>T (p.Ser2389=) rs150845823 0.00010
NM_001429.4(EP300):c.1572G>A (p.Thr524=) rs746398873 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.3143-7T>G rs778277906 0.00008
NM_001429.4(EP300):c.3874+13C>T rs545137722 0.00008
NM_001429.4(EP300):c.6934C>T (p.Pro2312Ser) rs137935821 0.00008
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.6912C>T (p.Ser2304=) rs113329190 0.00007
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.3377A>G (p.Asn1126Ser) rs777847755 0.00006
NM_001429.4(EP300):c.3591-19A>G rs376628079 0.00006
NM_001429.4(EP300):c.4482A>G (p.Arg1494=) rs149471059 0.00006
NM_001429.4(EP300):c.5568G>A (p.Thr1856=) rs202043101 0.00006
NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu) rs144626200 0.00006
NM_001429.4(EP300):c.6649G>A (p.Val2217Ile) rs368554118 0.00006
NM_001429.4(EP300):c.6950G>A (p.Arg2317Gln) rs149456776 0.00006
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.2419A>G (p.Ile807Val) rs201054979 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.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.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.3216C>T (p.Ser1072=) rs764807486 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.6923G>A (p.Arg2308His) rs759647202 0.00004
NM_001429.4(EP300):c.7017C>T (p.His2339=) rs759571982 0.00004
NM_001429.4(EP300):c.781C>T (p.Pro261Ser) rs753462821 0.00004
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.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.4172+16A>G rs777335301 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.545A>G (p.Asn182Ser) rs201487387 0.00003
NM_001429.4(EP300):c.5567C>T (p.Thr1856Met) rs373942196 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.6801A>G (p.Gln2267=) rs578112810 0.00003
NM_001429.4(EP300):c.7100C>T (p.Pro2367Leu) rs748953233 0.00003
NM_001429.4(EP300):c.7140A>G (p.Pro2380=) rs543339090 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.108A>G (p.Leu36=) rs374715858 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.2183G>A (p.Arg728Gln) rs746729196 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.3806+12C>T rs199998839 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.5007C>G (p.Thr1669=) rs367915829 0.00002
NM_001429.4(EP300):c.5088T>C (p.Tyr1696=) rs754931716 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.579C>T (p.Asn193=) rs376004661 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.6488C>T (p.Pro2163Leu) rs1013716287 0.00002
NM_001429.4(EP300):c.7191C>T (p.Thr2397=) rs376984096 0.00002
NM_001429.4(EP300):c.730-20C>T rs753573114 0.00002
NM_001429.4(EP300):c.907-10T>C rs772628747 0.00002
NM_001429.4(EP300):c.1128A>G (p.Leu376=) rs2058891058 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.12T>C (p.Asn4=) rs758604225 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.1508T>C (p.Met503Thr) rs1185038602 0.00001
NM_001429.4(EP300):c.1541T>C (p.Met514Thr) rs758573292 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.2062C>T (p.Leu688=) rs767283642 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.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.2730C>T (p.Pro910=) rs780271472 0.00001
NM_001429.4(EP300):c.302G>A (p.Gly101Asp) rs879722959 0.00001
NM_001429.4(EP300):c.3261+8T>G rs756407848 0.00001
NM_001429.4(EP300):c.3357T>C (p.Asp1119=) rs1305496497 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.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.3729-8T>C rs760510686 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.3875-8A>C rs747796024 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.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.4353T>C (p.His1451=) rs373752539 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.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.5550C>G (p.Pro1850=) rs745528143 0.00001
NM_001429.4(EP300):c.5838A>G (p.Gln1946=) rs772381985 0.00001
NM_001429.4(EP300):c.5967G>A (p.Met1989Ile) rs763795718 0.00001
NM_001429.4(EP300):c.6105G>A (p.Gln2035=) rs1441073777 0.00001
NM_001429.4(EP300):c.6128C>A (p.Pro2043Gln) rs546354866 0.00001
NM_001429.4(EP300):c.6183C>T (p.Pro2061=) rs2059211875 0.00001
NM_001429.4(EP300):c.6225C>T (p.His2075=) rs543501228 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.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.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.6712A>G (p.Asn2238Asp) rs759095488 0.00001
NM_001429.4(EP300):c.6775G>A (p.Ala2259Thr) rs374908361 0.00001
NM_001429.4(EP300):c.6914A>G (p.Asn2305Ser) rs769583219 0.00001
NM_001429.4(EP300):c.7015C>T (p.His2339Tyr) rs183326303 0.00001
NM_001429.4(EP300):c.7136A>G (p.Asn2379Ser) rs886057571 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.907-14G>A rs971554293 0.00001
NM_001429.4(EP300):c.984T>C (p.His328=) rs1223680688 0.00001
NM_001429.4(EP300):c.*1083_*1085del rs561433394
NM_001429.4(EP300):c.*340dup rs561569141
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.1283-14T>C rs759984232
NM_001429.4(EP300):c.1293T>C (p.Thr431=) rs2518134554
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.1374G>A (p.Gln458=)
NM_001429.4(EP300):c.1467G>T (p.Lys489Asn) rs769024926
NM_001429.4(EP300):c.1478A>G (p.Asn493Ser)
NM_001429.4(EP300):c.1528+17C>G rs1347166131
NM_001429.4(EP300):c.1528+19A>G
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.1572G>T (p.Thr524=)
NM_001429.4(EP300):c.1622+10A>T rs761696482
NM_001429.4(EP300):c.1651C>G (p.Pro551Ala)
NM_001429.4(EP300):c.1671A>G (p.Pro557=) rs2518141339
NM_001429.4(EP300):c.1686A>G (p.Pro562=) rs144993798
NM_001429.4(EP300):c.1704G>C (p.Arg568=)
NM_001429.4(EP300):c.1761-10C>G rs917571102
NM_001429.4(EP300):c.1761-16G>A rs745888999
NM_001429.4(EP300):c.1839G>A (p.Arg613=) rs1377327215
NM_001429.4(EP300):c.2053+17A>G rs2145726597
NM_001429.4(EP300):c.2054-16C>T rs1182751059
NM_001429.4(EP300):c.2067T>C (p.Pro689=) rs2145732276
NM_001429.4(EP300):c.2132-8A>T rs2517795104
NM_001429.4(EP300):c.2184G>A (p.Arg728=) rs187938527
NM_001429.4(EP300):c.2187A>G (p.Gln729=)
NM_001429.4(EP300):c.2249G>A (p.Gly750Asp) rs1433543827
NM_001429.4(EP300):c.2313A>G (p.Pro771=)
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.2463G>A (p.Gln821=)
NM_001429.4(EP300):c.2534C>T (p.Thr845Ile) rs202070031
NM_001429.4(EP300):c.2537C>T (p.Pro846Leu)
NM_001429.4(EP300):c.2550G>T (p.Gly850=) rs2517797931
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.2690T>C (p.Val897Ala) rs1239883671
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.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.3258C>A (p.Ile1086=) rs2517804360
NM_001429.4(EP300):c.3261+10T>C
NM_001429.4(EP300):c.3262-9T>C
NM_001429.4(EP300):c.3285C>T (p.Ser1095=) rs971045982
NM_001429.4(EP300):c.3384C>T (p.Ala1128=)
NM_001429.4(EP300):c.338C>T (p.Pro113Leu) rs756031537
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.346G>A (p.Gly116Ser) rs1320689399
NM_001429.4(EP300):c.3502-17A>C
NM_001429.4(EP300):c.3591-5G>A
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.3660C>G (p.Ser1220=)
NM_001429.4(EP300):c.3671+16A>C rs2517811213
NM_001429.4(EP300):c.3671+5_3671+7dup rs774612000
NM_001429.4(EP300):c.3672-9T>C
NM_001429.4(EP300):c.3728+13C>T rs1268232581
NM_001429.4(EP300):c.3729-19A>G
NM_001429.4(EP300):c.3729-6T>C rs753733347
NM_001429.4(EP300):c.3790A>C (p.Ile1264Leu)
NM_001429.4(EP300):c.3806+11A>G rs2517815386
NM_001429.4(EP300):c.3807-12G>A rs2059135828
NM_001429.4(EP300):c.3807-7C>T rs1200883341
NM_001429.4(EP300):c.3810C>T (p.Phe1270=) rs760116084
NM_001429.4(EP300):c.3819T>C (p.Asp1273=) rs2145759320
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.390C>T (p.Gly130=)
NM_001429.4(EP300):c.4005A>G (p.Val1335=) rs1462493430
NM_001429.4(EP300):c.4026-11C>T rs2145763257
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.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.4221A>G (p.Lys1407=) rs142802640
NM_001429.4(EP300):c.4252C>T (p.Leu1418=)
NM_001429.4(EP300):c.4287-20C>G rs778959566
NM_001429.4(EP300):c.4377G>A (p.Lys1459=) rs2145766700
NM_001429.4(EP300):c.442A>G (p.Thr148Ala) rs764079704
NM_001429.4(EP300):c.444G>C (p.Thr148=) rs376779611
NM_001429.4(EP300):c.4452+10G>C
NM_001429.4(EP300):c.4452+8G>A
NM_001429.4(EP300):c.4453-6T>C rs755372085
NM_001429.4(EP300):c.4455T>C (p.Asp1485=)
NM_001429.4(EP300):c.4611C>A (p.Ser1537Arg) rs1303397164
NM_001429.4(EP300):c.4617+17dup rs2517827041
NM_001429.4(EP300):c.4617+18C>T
NM_001429.4(EP300):c.4668C>T (p.Thr1556=) rs2517827930
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.4779+16C>A
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.4828C>T (p.Pro1610Ser) rs1458591540
NM_001429.4(EP300):c.4845T>G (p.Pro1615=) rs2517830828
NM_001429.4(EP300):c.498C>T (p.Asn166=) rs2058828603
NM_001429.4(EP300):c.5031G>A (p.Val1677=)
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.5062-6C>T
NM_001429.4(EP300):c.5122C>T (p.Leu1708=) rs2059203528
NM_001429.4(EP300):c.5154C>T (p.Asn1718=) rs2145515026
NM_001429.4(EP300):c.5268A>G (p.Pro1756=) rs1272929668
NM_001429.4(EP300):c.5313C>T (p.Cys1771=) rs1187590603
NM_001429.4(EP300):c.5331C>G (p.Gly1777=) rs558982627
NM_001429.4(EP300):c.5388C>T (p.Cys1796=) rs748793403
NM_001429.4(EP300):c.5397C>T (p.Asn1799=)
NM_001429.4(EP300):c.5412G>A (p.Pro1804=) rs368368055
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.5510G>A (p.Arg1837Gln) rs755471385
NM_001429.4(EP300):c.5526G>T (p.Gly1842=)
NM_001429.4(EP300):c.5547C>T (p.Ser1849=) rs2145516337
NM_001429.4(EP300):c.5623C>T (p.Pro1875Ser)
NM_001429.4(EP300):c.5664C>G (p.Pro1888=) rs2145516994
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.5682C>T (p.Gly1894=)
NM_001429.4(EP300):c.5718C>T (p.Thr1906=)
NM_001429.4(EP300):c.5796T>A (p.Ile1932=)
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.5957C>A (p.Pro1986Gln) rs144626200
NM_001429.4(EP300):c.6015A>G (p.Gln2005=) rs760227533
NM_001429.4(EP300):c.6036G>A (p.Arg2012=)
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.6195G>A (p.Leu2065=) rs746384848
NM_001429.4(EP300):c.6240G>C (p.Leu2080=) rs1006520558
NM_001429.4(EP300):c.6252C>T (p.Phe2084=)
NM_001429.4(EP300):c.6262C>T (p.Arg2088Trp) rs201569846
NM_001429.4(EP300):c.6398T>C (p.Met2133Thr)
NM_001429.4(EP300):c.639A>T (p.Gly213=)
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.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.6546C>A (p.Ile2182=) rs1259603610
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.6594G>A (p.Gly2198=) rs1373568802
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
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.6676C>T (p.Arg2226Trp)
NM_001429.4(EP300):c.6716T>C (p.Met2239Thr) rs775274711
NM_001429.4(EP300):c.6769C>T (p.Leu2257=)
NM_001429.4(EP300):c.676G>T (p.Gly226Cys)
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.680C>T (p.Ser227Phe) rs773141352
NM_001429.4(EP300):c.6820C>A (p.Gln2274Lys)
NM_001429.4(EP300):c.6840C>T (p.Pro2280=) rs2145522511
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.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.6975C>T (p.Ser2325=) rs200271896
NM_001429.4(EP300):c.6984C>A (p.Ser2328=) rs200478275
NM_001429.4(EP300):c.7041A>G (p.Pro2347=)
NM_001429.4(EP300):c.7043A>G (p.His2348Arg)
NM_001429.4(EP300):c.706T>C (p.Leu236=)
NM_001429.4(EP300):c.7070A>G (p.Asn2357Ser) rs147304540
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.7131T>C (p.Ala2377=)
NM_001429.4(EP300):c.7134C>T (p.Ser2378=) rs2145524235
NM_001429.4(EP300):c.7158T>C (p.His2386=)
NM_001429.4(EP300):c.7179G>A (p.Leu2393=)
NM_001429.4(EP300):c.7202A>G (p.Asp2401Gly)
NM_001429.4(EP300):c.7221A>G (p.Ser2407=) rs964396023
NM_001429.4(EP300):c.7242C>T (p.His2414=) rs1329691393
NM_001429.4(EP300):c.729+18T>G
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.759T>C (p.Tyr253=) rs1569094941
NM_001429.4(EP300):c.768A>T (p.Pro256=)
NM_001429.4(EP300):c.770A>G (p.Tyr257Cys) rs980878885
NM_001429.4(EP300):c.828A>C (p.Thr276=)
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.95-9T>C rs2518115298
NM_001429.4(EP300):c.960C>T (p.Ala320=) rs2145710114

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