ClinVar Miner

List of variants in gene EP300 reported as likely benign for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 354
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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.6390G>A (p.Met2130Ile) rs147973806 0.00101
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.1519A>G (p.Ser507Gly) rs146242251 0.00070
NM_001429.4(EP300):c.316A>G (p.Ser106Gly) rs150245975 0.00054
NM_001429.4(EP300):c.6417C>T (p.Gly2139=) rs111315183 0.00045
NM_001429.4(EP300):c.739A>G (p.Met247Val) rs147583157 0.00041
NM_001429.4(EP300):c.6951G>A (p.Arg2317=) rs139551099 0.00035
NM_001429.4(EP300):c.6481A>G (p.Met2161Val) rs188035979 0.00029
NM_001429.4(EP300):c.2380-18T>C rs189468196 0.00028
NM_001429.4(EP300):c.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.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.7161T>C (p.Gly2387=) rs143148170 0.00016
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.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.2645C>G (p.Pro882Arg) rs772707021 0.00012
NM_001429.4(EP300):c.2787A>G (p.Ala929=) rs143690368 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.2352G>A (p.Pro784=) rs140684440 0.00011
NM_001429.4(EP300):c.2668A>C (p.Thr890Pro) rs577396026 0.00010
NM_001429.4(EP300):c.3143-7T>G rs778277906 0.00010
NM_001429.4(EP300):c.5454G>C (p.Leu1818=) rs148026063 0.00010
NM_001429.4(EP300):c.6311C>G (p.Pro2104Arg) rs138584705 0.00010
NM_001429.4(EP300):c.7017C>T (p.His2339=) rs759571982 0.00010
NM_001429.4(EP300):c.7167C>T (p.Ser2389=) rs150845823 0.00010
NM_001429.4(EP300):c.1572G>A (p.Thr524=) rs746398873 0.00009
NM_001429.4(EP300):c.3591-6C>T rs368437789 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.5967G>A (p.Met1989Ile) rs763795718 0.00008
NM_001429.4(EP300):c.6934C>T (p.Pro2312Ser) rs137935821 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.3377A>G (p.Asn1126Ser) rs777847755 0.00006
NM_001429.4(EP300):c.3591-19A>G rs376628079 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.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.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.4624A>G (p.Lys1542Glu) rs374162524 0.00005
NM_001429.4(EP300):c.5391G>A (p.Gln1797=) rs1014464615 0.00005
NM_001429.4(EP300):c.6922C>T (p.Arg2308Cys) rs145312648 0.00005
NM_001429.4(EP300):c.1672A>G (p.Thr558Ala) rs1057519397 0.00004
NM_001429.4(EP300):c.1760+20C>T rs368767822 0.00004
NM_001429.4(EP300):c.2367T>C (p.Ala789=) rs759989339 0.00004
NM_001429.4(EP300):c.2419A>G (p.Ile807Val) rs201054979 0.00004
NM_001429.4(EP300):c.5028T>C (p.His1676=) rs747152661 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.1528+15T>C rs200147263 0.00003
NM_001429.4(EP300):c.1627A>G (p.Met543Val) rs142823793 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.726T>A (p.Leu242=) rs886057555 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.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.7191C>T (p.Thr2397=) rs376984096 0.00002
NM_001429.4(EP300):c.907-10T>C rs772628747 0.00002
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.1874A>G (p.Asn625Ser) rs775426461 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.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.3875-8A>C rs747796024 0.00001
NM_001429.4(EP300):c.4509T>C (p.Tyr1503=) rs373428278 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.6225C>T (p.His2075=) rs543501228 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.6582A>G (p.Gln2194=) rs761195313 0.00001
NM_001429.4(EP300):c.1128A>G (p.Leu376=)
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.1283-14T>C
NM_001429.4(EP300):c.1283-20A>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.1355A>G (p.Asn452Ser)
NM_001429.4(EP300):c.1366G>A (p.Val456Ile)
NM_001429.4(EP300):c.1467G>T (p.Lys489Asn)
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.1585T>C (p.Ser529Pro)
NM_001429.4(EP300):c.1622+10A>T
NM_001429.4(EP300):c.1635T>A (p.Ser545Arg)
NM_001429.4(EP300):c.1666A>G (p.Met556Val)
NM_001429.4(EP300):c.1671A>G (p.Pro557=)
NM_001429.4(EP300):c.1683A>G (p.Gln561=)
NM_001429.4(EP300):c.1686A>G (p.Pro562=)
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.1839G>A (p.Arg613=)
NM_001429.4(EP300):c.2034G>A (p.Pro678=)
NM_001429.4(EP300):c.2053+17A>G
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.2093T>C (p.Val698Ala)
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.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.2242-15T>G
NM_001429.4(EP300):c.2242-17T>G
NM_001429.4(EP300):c.2242-7T>C
NM_001429.4(EP300):c.2285G>A (p.Gly762Asp)
NM_001429.4(EP300):c.2380-19_2380-15del
NM_001429.4(EP300):c.2534C>T (p.Thr845Ile)
NM_001429.4(EP300):c.2550G>T (p.Gly850=)
NM_001429.4(EP300):c.2598T>A (p.Pro866=)
NM_001429.4(EP300):c.2632C>T (p.Leu878=)
NM_001429.4(EP300):c.2636A>C (p.His879Pro)
NM_001429.4(EP300):c.2690T>C (p.Val897Ala)
NM_001429.4(EP300):c.2730C>T (p.Pro910=)
NM_001429.4(EP300):c.2757C>T (p.Ser919=)
NM_001429.4(EP300):c.2802G>T (p.Pro934=)
NM_001429.4(EP300):c.2805G>A (p.Gln935=)
NM_001429.4(EP300):c.3143-12T>C
NM_001429.4(EP300):c.3143-15C>A
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+8T>G
NM_001429.4(EP300):c.3352G>A (p.Val1118Ile)
NM_001429.4(EP300):c.3357T>C (p.Asp1119=)
NM_001429.4(EP300):c.338C>T (p.Pro113Leu)
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.346G>A (p.Gly116Ser)
NM_001429.4(EP300):c.3534C>T (p.Tyr1178=)
NM_001429.4(EP300):c.3624C>A (p.Ile1208=) rs143660871
NM_001429.4(EP300):c.3624C>T (p.Ile1208=) rs143660871
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.3675A>G (p.Thr1225=)
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.3729-6T>C
NM_001429.4(EP300):c.3729-8T>C
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.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.3874+13C>T
NM_001429.4(EP300):c.3875-19_3875-18del
NM_001429.4(EP300):c.4005A>G (p.Val1335=) rs1462493430
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.4065C>T (p.Tyr1355=)
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.4221A>G (p.Lys1407=)
NM_001429.4(EP300):c.4287-20C>G
NM_001429.4(EP300):c.4353T>C (p.His1451=)
NM_001429.4(EP300):c.4377G>A (p.Lys1459=)
NM_001429.4(EP300):c.442A>G (p.Thr148Ala)
NM_001429.4(EP300):c.4452+18G>A rs548353389
NM_001429.4(EP300):c.4453-6T>C
NM_001429.4(EP300):c.4512C>T (p.Phe1504=)
NM_001429.4(EP300):c.457A>G (p.Met153Val)
NM_001429.4(EP300):c.458T>C (p.Met153Thr)
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.4618-19C>T
NM_001429.4(EP300):c.4618-9A>G
NM_001429.4(EP300):c.4668C>T (p.Thr1556=)
NM_001429.4(EP300):c.4740C>T (p.Leu1580=)
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.4817C>T (p.Ala1606Val)
NM_001429.4(EP300):c.4824C>G (p.Ser1608=) rs199994113
NM_001429.4(EP300):c.4828C>T (p.Pro1610Ser)
NM_001429.4(EP300):c.4845T>G (p.Pro1615=)
NM_001429.4(EP300):c.4887G>A (p.Ala1629=)
NM_001429.4(EP300):c.4971G>A (p.Glu1657=)
NM_001429.4(EP300):c.498C>T (p.Asn166=) rs2058828603
NM_001429.4(EP300):c.5007C>G (p.Thr1669=)
NM_001429.4(EP300):c.5062-15C>T
NM_001429.4(EP300):c.5062-18C>T
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.5154C>T (p.Asn1718=)
NM_001429.4(EP300):c.5169C>T (p.Ala1723=)
NM_001429.4(EP300):c.5268A>G (p.Pro1756=)
NM_001429.4(EP300):c.5313C>T (p.Cys1771=)
NM_001429.4(EP300):c.5331C>G (p.Gly1777=)
NM_001429.4(EP300):c.5331C>T (p.Gly1777=)
NM_001429.4(EP300):c.5388C>T (p.Cys1796=)
NM_001429.4(EP300):c.5412G>A (p.Pro1804=)
NM_001429.4(EP300):c.5442G>A (p.Arg1814=)
NM_001429.4(EP300):c.546T>C (p.Asn182=)
NM_001429.4(EP300):c.5510G>A (p.Arg1837Gln) rs755471385
NM_001429.4(EP300):c.5547C>T (p.Ser1849=)
NM_001429.4(EP300):c.5550C>G (p.Pro1850=)
NM_001429.4(EP300):c.5567C>T (p.Thr1856Met)
NM_001429.4(EP300):c.5597C>T (p.Pro1866Leu)
NM_001429.4(EP300):c.5664C>G (p.Pro1888=)
NM_001429.4(EP300):c.5669C>G (p.Thr1890Ser) rs146165770
NM_001429.4(EP300):c.5838A>G (p.Gln1946=)
NM_001429.4(EP300):c.5854A>G (p.Ile1952Val)
NM_001429.4(EP300):c.5874G>A (p.Pro1958=)
NM_001429.4(EP300):c.5934G>A (p.Gly1978=)
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.6015A>G (p.Gln2005=)
NM_001429.4(EP300):c.6105G>A (p.Gln2035=)
NM_001429.4(EP300):c.6128C>A (p.Pro2043Gln)
NM_001429.4(EP300):c.613A>G (p.Met205Val)
NM_001429.4(EP300):c.6144A>G (p.Gln2048=)
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.6193C>T (p.Leu2065=)
NM_001429.4(EP300):c.6195G>A (p.Leu2065=)
NM_001429.4(EP300):c.6240G>C (p.Leu2080=)
NM_001429.4(EP300):c.6262C>T (p.Arg2088Trp) rs201569846
NM_001429.4(EP300):c.6279C>T (p.Ala2093=)
NM_001429.4(EP300):c.6414G>T (p.Ala2138=) rs374679651
NM_001429.4(EP300):c.6444G>A (p.Gln2148=)
NM_001429.4(EP300):c.6468A>C (p.Pro2156=)
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.6539G>A (p.Arg2180Gln)
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.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.6642C>G (p.Pro2214=)
NM_001429.4(EP300):c.6657C>T (p.Tyr2219=) rs2145521664
NM_001429.4(EP300):c.667C>G (p.Leu223Val) rs746720991
NM_001429.4(EP300):c.6681G>A (p.Met2227Ile)
NM_001429.4(EP300):c.6712A>G (p.Asn2238Asp)
NM_001429.4(EP300):c.6716T>C (p.Met2239Thr)
NM_001429.4(EP300):c.6775G>A (p.Ala2259Thr)
NM_001429.4(EP300):c.6801A>G (p.Gln2267=)
NM_001429.4(EP300):c.680C>T (p.Ser227Phe)
NM_001429.4(EP300):c.6840C>T (p.Pro2280=)
NM_001429.4(EP300):c.6888C>T (p.Gly2296=)
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.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.6975C>T (p.Ser2325=)
NM_001429.4(EP300):c.6984C>A (p.Ser2328=) rs200478275
NM_001429.4(EP300):c.7070A>G (p.Asn2357Ser) rs147304540
NM_001429.4(EP300):c.7094C>T (p.Ala2365Val)
NM_001429.4(EP300):c.7098C>T (p.Ser2366=)
NM_001429.4(EP300):c.7134C>T (p.Ser2378=)
NM_001429.4(EP300):c.7136A>G (p.Asn2379Ser) rs886057571
NM_001429.4(EP300):c.7163C>T (p.Ala2388Val)
NM_001429.4(EP300):c.7173G>A (p.Thr2391=)
NM_001429.4(EP300):c.7182A>G (p.Gly2394=)
NM_001429.4(EP300):c.7221A>G (p.Ser2407=) rs964396023
NM_001429.4(EP300):c.7230A>G (p.Thr2410=)
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.730-20C>T
NM_001429.4(EP300):c.730-5C>T
NM_001429.4(EP300):c.730-7_730-2del rs762256767
NM_001429.4(EP300):c.757T>C (p.Tyr253His)
NM_001429.4(EP300):c.759T>C (p.Tyr253=)
NM_001429.4(EP300):c.770A>G (p.Tyr257Cys)
NM_001429.4(EP300):c.772A>G (p.Thr258Ala)
NM_001429.4(EP300):c.839T>C (p.Leu280Pro)
NM_001429.4(EP300):c.864T>C (p.Ala288=)
NM_001429.4(EP300):c.907-14G>A
NM_001429.4(EP300):c.95-9T>C
NM_001429.4(EP300):c.960C>T (p.Ala320=)
NM_001429.4(EP300):c.984T>C (p.His328=)

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