ClinVar Miner

List of variants studied for Rubinstein-Taybi syndrome by Invitae

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2087
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.2053+8G>T rs6002267 0.96326
NM_001429.4(EP300):c.3183T>A (p.Thr1061=) rs20552 0.59984
NM_001429.4(EP300):c.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_004380.3(CREBBP):c.3837-8C>T rs3025684 0.15427
NM_004380.3(CREBBP):c.939T>C (p.Asp313=) rs3025702 0.08570
NM_004380.3(CREBBP):c.1676+18A>T rs130018 0.08039
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_004380.3(CREBBP):c.6711C>T (p.Pro2237=) rs3751845 0.02471
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_004380.3(CREBBP):c.3900C>A (p.Ile1300=) rs129974 0.02027
NM_001429.4(EP300):c.1283-8T>C rs76827562 0.01914
NM_001429.4(EP300):c.942C>T (p.Gly314=) rs20553 0.01913
NM_004380.3(CREBBP):c.2784G>A (p.Pro928=) rs3025694 0.01815
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=) rs55916120 0.01802
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_004380.3(CREBBP):c.5670C>T (p.Pro1890=) rs115594471 0.01560
NM_001429.4(EP300):c.3426C>T (p.Cys1142=) rs76268515 0.01549
NM_004380.3(CREBBP):c.1953T>C (p.Tyr651=) rs130003 0.01499
NM_004380.3(CREBBP):c.2974G>A (p.Val992Ile) rs61731383 0.01447
NM_001429.4(EP300):c.2131+17A>T rs113214815 0.01318
NM_004380.3(CREBBP):c.6621A>G (p.Gln2207=) rs55960450 0.01121
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu) rs61731376 0.01088
NM_001429.4(EP300):c.2019T>C (p.Pro673=) rs2230110 0.01054
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=) rs62636220 0.01025
NM_004380.3(CREBBP):c.459G>A (p.Pro153=) rs56388626 0.01000
NM_001429.4(EP300):c.2998-12G>A rs115849119 0.00836
NM_004380.3(CREBBP):c.5454G>A (p.Val1818=) rs61754523 0.00785
NM_001429.4(EP300):c.1168+7G>C rs181755354 0.00718
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381 0.00715
NM_001429.4(EP300):c.631G>A (p.Gly211Ser) rs142030651 0.00646
NM_004380.3(CREBBP):c.5988C>T (p.Ala1996=) rs181646656 0.00612
NM_004380.3(CREBBP):c.6685G>A (p.Gly2229Ser) rs139688311 0.00518
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser) rs112906840 0.00438
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_004380.3(CREBBP):c.333C>T (p.Asn111=) rs150229705 0.00320
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380 0.00307
NM_001429.4(EP300):c.1623-20T>C rs151092312 0.00288
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser) rs145733598 0.00287
NM_001429.4(EP300):c.2064A>G (p.Leu688=) rs61756763 0.00282
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=) rs148904096 0.00267
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_004380.3(CREBBP):c.5052C>T (p.Ser1684=) rs2072381 0.00252
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559 0.00233
NM_001429.4(EP300):c.6636G>A (p.Gln2212=) rs142673005 0.00225
NM_004380.3(CREBBP):c.6003T>C (p.Asn2001=) rs200998860 0.00223
NM_004380.3(CREBBP):c.4822C>A (p.Pro1608Thr) rs73491901 0.00217
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=) rs73491896 0.00217
NM_004380.3(CREBBP):c.293G>T (p.Gly98Val) rs141982003 0.00206
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=) rs61759495 0.00177
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_004380.3(CREBBP):c.4133+19T>C rs202204380 0.00143
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_004380.3(CREBBP):c.4133+4A>G rs372126168 0.00124
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) rs61731405 0.00124
NM_004380.3(CREBBP):c.3831C>T (p.Pro1277=) rs141869477 0.00117
NM_004380.3(CREBBP):c.1574-12C>T rs185243405 0.00116
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=) rs144832179 0.00116
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883 0.00113
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_004380.3(CREBBP):c.5829G>A (p.Pro1943=) rs546554430 0.00103
NM_004380.3(CREBBP):c.7302G>A (p.Thr2434=) rs144609433 0.00103
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649 0.00102
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_004380.3(CREBBP):c.895A>G (p.Ser299Gly) rs149961222 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_004380.3(CREBBP):c.1216+20C>A rs200567815 0.00070
NM_004380.3(CREBBP):c.3698+7G>A rs374345970 0.00070
NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys) rs55790011 0.00069
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_004380.3(CREBBP):c.4494A>G (p.Arg1498=) rs149560660 0.00064
NM_004380.3(CREBBP):c.4133+9G>A rs376602227 0.00063
NM_001429.4(EP300):c.94+13A>G rs201124490 0.00062
NM_001429.4(EP300):c.316A>G (p.Ser106Gly) rs150245975 0.00054
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=) rs141651423 0.00054
NM_001429.4(EP300):c.1168+20T>C rs3818121 0.00052
NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr) rs148781922 0.00051
NM_004380.3(CREBBP):c.2409C>T (p.Ser803=) rs139207930 0.00050
NM_001429.4(EP300):c.5364C>T (p.Leu1788=) rs143551315 0.00049
NM_004380.3(CREBBP):c.2950A>T (p.Asn984Tyr) rs140406003 0.00049
NM_004380.3(CREBBP):c.5886C>T (p.Ile1962=) rs370565083 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_004380.3(CREBBP):c.5770G>A (p.Val1924Met) rs368145743 0.00044
NM_004380.3(CREBBP):c.5865G>A (p.Ala1955=) rs554810606 0.00044
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_004380.3(CREBBP):c.879G>A (p.Val293=) rs144344016 0.00041
NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu) rs200716582 0.00040
NM_004380.3(CREBBP):c.3158C>T (p.Pro1053Leu) rs142008620 0.00038
NM_004380.3(CREBBP):c.4119C>T (p.Pro1373=) rs3025679 0.00038
NM_004380.3(CREBBP):c.458C>T (p.Pro153Leu) rs146538907 0.00038
NM_001429.4(EP300):c.6951G>A (p.Arg2317=) rs139551099 0.00035
NM_004380.3(CREBBP):c.3024C>T (p.Pro1008=) rs144649776 0.00031
NM_004380.3(CREBBP):c.3982+9C>T rs114668693 0.00031
NM_004380.3(CREBBP):c.2616G>A (p.Thr872=) rs781112420 0.00030
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504 0.00030
NM_001429.4(EP300):c.6481A>G (p.Met2161Val) rs188035979 0.00029
NM_004380.3(CREBBP):c.2239A>G (p.Met747Val) rs142932907 0.00029
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=) rs146168040 0.00029
NM_004380.3(CREBBP):c.3985C>T (p.Leu1329=) rs149055008 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_004380.3(CREBBP):c.4251C>T (p.Tyr1417=) rs61731412 0.00024
NM_004380.3(CREBBP):c.5934C>T (p.Asn1978=) rs754282387 0.00023
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_004380.3(CREBBP):c.4560+14A>G rs200934101 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_004380.3(CREBBP):c.1399G>A (p.Ala467Thr) rs202225861 0.00019
NM_004380.3(CREBBP):c.3750C>T (p.Thr1250=) rs199885110 0.00019
NM_004380.3(CREBBP):c.5991C>T (p.Pro1997=) rs201101808 0.00019
NM_004380.3(CREBBP):c.905G>A (p.Ser302Asn) rs200154055 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_004380.3(CREBBP):c.6165C>T (p.Ser2055=) rs368704484 0.00017
NM_004380.3(CREBBP):c.6340G>A (p.Gly2114Ser) rs139169188 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.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_004380.3(CREBBP):c.6138G>A (p.Ala2046=) rs371656213 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_004380.3(CREBBP):c.1743T>G (p.Ala581=) rs117115765 0.00015
NM_004380.3(CREBBP):c.2846C>T (p.Pro949Leu) rs147083140 0.00015
NM_004380.3(CREBBP):c.5874G>C (p.Ala1958=) rs373950003 0.00015
NM_004380.3(CREBBP):c.833A>C (p.Gln278Pro) rs577305576 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_004380.3(CREBBP):c.2225G>C (p.Arg742Pro) rs748747684 0.00014
NM_004380.3(CREBBP):c.3611A>T (p.Tyr1204Phe) rs200346970 0.00014
NM_004380.3(CREBBP):c.3841G>A (p.Val1281Ile) rs201874248 0.00014
NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=) rs374969185 0.00014
NM_004380.3(CREBBP):c.6351C>T (p.Pro2117=) rs142846349 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_004380.3(CREBBP):c.3089C>T (p.Ser1030Phe) rs757051244 0.00013
NM_004380.3(CREBBP):c.4280+8T>C rs376814421 0.00013
NM_004380.3(CREBBP):c.5776C>G (p.Arg1926Gly) rs778915687 0.00013
NM_004380.3(CREBBP):c.6444C>T (p.Gly2148=) rs148539895 0.00013
NM_004380.3(CREBBP):c.6656C>T (p.Ala2219Val) rs150461438 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_004380.3(CREBBP):c.2526G>A (p.Gln842=) rs141775567 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_004380.3(CREBBP):c.6852C>G (p.Thr2284=) rs201161108 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_004380.3(CREBBP):c.5271C>T (p.Gly1757=) rs190121951 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_004380.3(CREBBP):c.1143G>A (p.Ser381=) rs147342740 0.00009
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val) rs369459749 0.00009
NM_004380.3(CREBBP):c.2118A>G (p.Gly706=) rs778065124 0.00009
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met) rs369930675 0.00009
NM_004380.3(CREBBP):c.3204C>T (p.Asn1068=) rs150189749 0.00009
NM_004380.3(CREBBP):c.5334G>A (p.Ser1778=) rs201062642 0.00009
NM_004380.3(CREBBP):c.5667G>A (p.Pro1889=) rs377023934 0.00009
NM_004380.3(CREBBP):c.5769C>T (p.Ser1923=) rs772392148 0.00009
NM_004380.3(CREBBP):c.6324C>T (p.Tyr2108=) rs199821421 0.00009
NM_004380.3(CREBBP):c.681T>C (p.Pro227=) rs201193684 0.00009
NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr) rs759047530 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_004380.3(CREBBP):c.164A>G (p.Asn55Ser) rs587783466 0.00008
NM_004380.3(CREBBP):c.4560+9C>T rs201631062 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_004380.3(CREBBP):c.1633T>C (p.Leu545=) rs371285951 0.00007
NM_004380.3(CREBBP):c.1732C>T (p.Pro578Ser) rs148023511 0.00007
NM_004380.3(CREBBP):c.2439G>A (p.Pro813=) rs763702839 0.00007
NM_004380.3(CREBBP):c.3301C>T (p.Leu1101=) rs766505219 0.00007
NM_004380.3(CREBBP):c.3370-17A>T rs767500889 0.00007
NM_004380.3(CREBBP):c.3982+10G>A rs370093745 0.00007
NM_004380.3(CREBBP):c.5172+19C>G rs371471977 0.00007
NM_004380.3(CREBBP):c.5922G>A (p.Arg1974=) rs202099897 0.00007
NM_004380.3(CREBBP):c.6465T>G (p.Pro2155=) rs746868061 0.00007
NM_004380.3(CREBBP):c.7194A>G (p.Gly2398=) rs773968231 0.00007
NM_004380.3(CREBBP):c.7197C>T (p.His2399=) rs375864984 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_004380.3(CREBBP):c.2364C>T (p.Pro788=) rs201070000 0.00006
NM_004380.3(CREBBP):c.2415G>A (p.Ala805=) rs368664039 0.00006
NM_004380.3(CREBBP):c.3029C>T (p.Pro1010Leu) rs139896431 0.00006
NM_004380.3(CREBBP):c.435C>T (p.Pro145=) rs201435679 0.00006
NM_004380.3(CREBBP):c.4560+6C>T rs369973805 0.00006
NM_004380.3(CREBBP):c.4956C>T (p.Pro1652=) rs139365408 0.00006
NM_004380.3(CREBBP):c.5361C>T (p.Asn1787=) rs375462934 0.00006
NM_004380.3(CREBBP):c.5973G>A (p.Pro1991=) rs539366777 0.00006
NM_004380.3(CREBBP):c.7011G>A (p.Thr2337=) rs377692518 0.00006
NM_004380.3(CREBBP):c.7293G>A (p.Thr2431=) rs587783514 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_004380.3(CREBBP):c.1514C>T (p.Pro505Leu) rs369550568 0.00005
NM_004380.3(CREBBP):c.177T>A (p.Leu59=) rs201027381 0.00005
NM_004380.3(CREBBP):c.1854C>T (p.Pro618=) rs61754522 0.00005
NM_004380.3(CREBBP):c.3060+10G>A rs398124143 0.00005
NM_004380.3(CREBBP):c.414C>T (p.Ala138=) rs542552676 0.00005
NM_004380.3(CREBBP):c.6195C>T (p.Ser2065=) rs374150949 0.00005
NM_004380.3(CREBBP):c.7272G>T (p.Leu2424=) rs375448134 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_004380.3(CREBBP):c.1275T>C (p.His425=) rs758886547 0.00004
NM_004380.3(CREBBP):c.2112A>G (p.Pro704=) rs398124142 0.00004
NM_004380.3(CREBBP):c.2413G>A (p.Ala805Thr) rs370128808 0.00004
NM_004380.3(CREBBP):c.2438C>T (p.Pro813Leu) rs150767375 0.00004
NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile) rs771016864 0.00004
NM_004380.3(CREBBP):c.2668A>C (p.Thr890Pro) rs370012973 0.00004
NM_004380.3(CREBBP):c.3060+9C>T rs372291994 0.00004
NM_004380.3(CREBBP):c.4837G>A (p.Val1613Met) rs766085073 0.00004
NM_004380.3(CREBBP):c.5666C>T (p.Pro1889Leu) rs143180774 0.00004
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala) rs749249146 0.00004
NM_004380.3(CREBBP):c.5930T>A (p.Ile1977Asn) rs754429038 0.00004
NM_004380.3(CREBBP):c.594T>C (p.Ile198=) rs1376107928 0.00004
NM_004380.3(CREBBP):c.6056G>T (p.Gly2019Val) rs771420935 0.00004
NM_004380.3(CREBBP):c.6433A>G (p.Met2145Val) rs758386187 0.00004
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=) rs750845399 0.00004
NM_004380.3(CREBBP):c.6723A>G (p.Pro2241=) rs769325049 0.00004
NM_004380.3(CREBBP):c.6795G>A (p.Ala2265=) rs748072121 0.00004
NM_004380.3(CREBBP):c.69G>A (p.Ser23=) rs766095612 0.00004
NM_004380.3(CREBBP):c.7089G>A (p.Pro2363=) rs199610814 0.00004
NM_004380.3(CREBBP):c.711C>T (p.Ser237=) rs146049063 0.00004
NM_004380.3(CREBBP):c.7236G>A (p.Leu2412=) rs745992971 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_004380.3(CREBBP):c.1026A>G (p.Thr342=) rs751666077 0.00003
NM_004380.3(CREBBP):c.1758C>T (p.Thr586=) rs138353979 0.00003
NM_004380.3(CREBBP):c.1995A>G (p.Leu665=) rs1028648371 0.00003
NM_004380.3(CREBBP):c.2141G>A (p.Arg714His) rs141098117 0.00003
NM_004380.3(CREBBP):c.2400G>A (p.Pro800=) rs756570921 0.00003
NM_004380.3(CREBBP):c.2570C>T (p.Pro857Leu) rs766086544 0.00003
NM_004380.3(CREBBP):c.2635C>T (p.Pro879Ser) rs779479811 0.00003
NM_004380.3(CREBBP):c.271G>A (p.Ala91Thr) rs200673670 0.00003
NM_004380.3(CREBBP):c.271G>T (p.Ala91Ser) rs200673670 0.00003
NM_004380.3(CREBBP):c.3233C>T (p.Ser1078Leu) rs942848385 0.00003
NM_004380.3(CREBBP):c.4213G>A (p.Val1405Met) rs140133512 0.00003
NM_004380.3(CREBBP):c.4560+7G>C rs587783498 0.00003
NM_004380.3(CREBBP):c.4674A>G (p.Gln1558=) rs770241645 0.00003
NM_004380.3(CREBBP):c.4948G>A (p.Val1650Ile) rs776549587 0.00003
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=) rs200287696 0.00003
NM_004380.3(CREBBP):c.5169C>T (p.Cys1723=) rs146718571 0.00003
NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met) rs760771706 0.00003
NM_004380.3(CREBBP):c.5970C>T (p.Thr1990=) rs773118274 0.00003
NM_004380.3(CREBBP):c.6006G>T (p.Val2002=) rs768100377 0.00003
NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val) rs745551441 0.00003
NM_004380.3(CREBBP):c.6549G>A (p.Ala2183=) rs1348561145 0.00003
NM_004380.3(CREBBP):c.6596A>T (p.Gln2199Leu) rs765821935 0.00003
NM_004380.3(CREBBP):c.675G>A (p.Pro225=) rs140708841 0.00003
NM_004380.3(CREBBP):c.701C>T (p.Ala234Val) rs727503892 0.00003
NM_004380.3(CREBBP):c.7125C>T (p.His2375=) rs746116315 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_004380.3(CREBBP):c.1331-4A>G rs756291909 0.00002
NM_004380.3(CREBBP):c.1824C>G (p.Leu608=) rs753242611 0.00002
NM_004380.3(CREBBP):c.2193C>T (p.Asn731=) rs746813014 0.00002
NM_004380.3(CREBBP):c.2410G>A (p.Gly804Arg) rs754981072 0.00002
NM_004380.3(CREBBP):c.2464-7C>G rs772258017 0.00002
NM_004380.3(CREBBP):c.2482G>T (p.Ala828Ser) rs779000839 0.00002
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=) rs587783474 0.00002
NM_004380.3(CREBBP):c.3021G>C (p.Glu1007Asp) rs774653315 0.00002
NM_004380.3(CREBBP):c.4073T>C (p.Phe1358Ser) rs762638591 0.00002
NM_004380.3(CREBBP):c.4394+8T>C rs750961246 0.00002
NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=) rs370689343 0.00002
NM_004380.3(CREBBP):c.4812C>T (p.Asn1604=) rs762565460 0.00002
NM_004380.3(CREBBP):c.5204C>T (p.Thr1735Met) rs1064793090 0.00002
NM_004380.3(CREBBP):c.6658G>A (p.Gly2220Ser) rs141184151 0.00002
NM_004380.3(CREBBP):c.6728C>T (p.Ala2243Val) rs190153828 0.00002
NM_004380.3(CREBBP):c.7040C>T (p.Ala2347Val) rs182347573 0.00002
NM_004380.3(CREBBP):c.7116G>A (p.Ser2372=) rs758454751 0.00002
NM_004380.3(CREBBP):c.759C>T (p.His253=) rs548980748 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
NM_004380.3(CREBBP):c.105C>G (p.Asp35Glu) rs372495787 0.00001
NM_004380.3(CREBBP):c.1089T>C (p.His363=) rs969407052 0.00001
NM_004380.3(CREBBP):c.1331-12T>C rs779542354 0.00001
NM_004380.3(CREBBP):c.1520A>G (p.Gln507Arg) rs766320521 0.00001
NM_004380.3(CREBBP):c.2043C>T (p.Asn681=) rs555628489 0.00001
NM_004380.3(CREBBP):c.2064G>A (p.Pro688=) rs766050154 0.00001
NM_004380.3(CREBBP):c.2557C>A (p.Leu853Met) rs542970560 0.00001
NM_004380.3(CREBBP):c.2626G>A (p.Gly876Arg) rs746552957 0.00001
NM_004380.3(CREBBP):c.2695C>G (p.Pro899Ala) rs1186080322 0.00001
NM_004380.3(CREBBP):c.275G>A (p.Ser92Asn) rs746902106 0.00001
NM_004380.3(CREBBP):c.2823C>T (p.Thr941=) rs762072105 0.00001
NM_004380.3(CREBBP):c.2943A>G (p.Ala981=) rs1053049323 0.00001
NM_004380.3(CREBBP):c.320C>T (p.Pro107Leu) rs766844540 0.00001
NM_004380.3(CREBBP):c.3252C>T (p.Ile1084=) rs190925539 0.00001
NM_004380.3(CREBBP):c.3385G>A (p.Val1129Ile) rs774047746 0.00001
NM_004380.3(CREBBP):c.3465C>T (p.Asp1155=) rs1447337021 0.00001
NM_004380.3(CREBBP):c.3576C>G (p.Val1192=) rs775872294 0.00001
NM_004380.3(CREBBP):c.3828C>T (p.Asp1276=) rs745617177 0.00001
NM_004380.3(CREBBP):c.3837-18G>A rs780739661 0.00001
NM_004380.3(CREBBP):c.3929A>G (p.Asn1310Ser) rs558051943 0.00001
NM_004380.3(CREBBP):c.4344C>T (p.Ala1448=) rs777425519 0.00001
NM_004380.3(CREBBP):c.4740C>T (p.Gly1580=) rs563033919 0.00001
NM_004380.3(CREBBP):c.4890+6C>T rs1567265838 0.00001
NM_004380.3(CREBBP):c.4992C>T (p.Arg1664=) rs756979739 0.00001
NM_004380.3(CREBBP):c.501C>T (p.Ala167=) rs376613398 0.00001
NM_004380.3(CREBBP):c.504G>A (p.Thr168=) rs373310969 0.00001
NM_004380.3(CREBBP):c.5709G>A (p.Pro1903=) rs773624477 0.00001
NM_004380.3(CREBBP):c.5777G>A (p.Arg1926Gln) rs1370704436 0.00001
NM_004380.3(CREBBP):c.5795C>T (p.Thr1932Met) rs867074201 0.00001
NM_004380.3(CREBBP):c.5796G>A (p.Thr1932=) rs755609198 0.00001
NM_004380.3(CREBBP):c.5836C>G (p.Pro1946Ala) rs1321085895 0.00001
NM_004380.3(CREBBP):c.5843C>T (p.Pro1948Leu) rs557611780 0.00001
NM_004380.3(CREBBP):c.586A>G (p.Ser196Gly) rs794727274 0.00001
NM_004380.3(CREBBP):c.6054C>T (p.Pro2018=) rs768626011 0.00001
NM_004380.3(CREBBP):c.6126G>T (p.Met2042Ile) rs1052723403 0.00001
NM_004380.3(CREBBP):c.6228G>A (p.Ser2076=) rs759497776 0.00001
NM_004380.3(CREBBP):c.6279C>T (p.Asn2093=) rs762700575 0.00001
NM_004380.3(CREBBP):c.6282G>A (p.Pro2094=) rs772950054 0.00001
NM_004380.3(CREBBP):c.62G>A (p.Gly21Asp) rs1211983012 0.00001
NM_004380.3(CREBBP):c.6449C>T (p.Pro2150Leu) rs587783512 0.00001
NM_004380.3(CREBBP):c.6450G>A (p.Pro2150=) rs371497730 0.00001
NM_004380.3(CREBBP):c.651C>T (p.Gly217=) rs375403937 0.00001
NM_004380.3(CREBBP):c.6684C>T (p.His2228=) rs138613594 0.00001
NM_004380.3(CREBBP):c.6746G>A (p.Arg2249His) rs794727551 0.00001
NM_004380.3(CREBBP):c.6881G>A (p.Arg2294Gln) rs1064793091 0.00001
NM_004380.3(CREBBP):c.6956A>T (p.His2319Leu) rs587778215 0.00001
NM_004380.3(CREBBP):c.7178G>C (p.Ser2393Thr) rs766962344 0.00001
NM_004380.3(CREBBP):c.7239C>T (p.Asn2413=) rs757539209 0.00001
NM_004380.3(CREBBP):c.825A>C (p.Pro275=) rs370509157 0.00001
NM_004380.3(CREBBP):c.960C>T (p.Thr320=) rs898885851 0.00001
NM_004380.3(CREBBP):c.975+14G>A rs535745718 0.00001
NC_000016.10:g.(?_3727698)_(3793646_?)del
NC_000016.10:g.(?_3727698)_(3810799_?)del
NC_000016.10:g.(?_3727698)_(4802591_?)del
NC_000016.10:g.(?_3744874)_(3758992_?)del
NC_000016.10:g.(?_3744874)_(4337544_?)del
NC_000016.10:g.(?_3757268)_(3757396_?)del
NC_000016.10:g.(?_3780712)_(3781326_?)del
NC_000016.10:g.(?_3791961)_(3792114_?)del
NC_000016.10:g.(?_3810583)_(3879936_?)del
NC_000016.10:g.(?_3879812)_(3879936_?)del
NC_000016.9:g.(?_3293141)_(3929917_?)del
NC_000016.9:g.(?_3293141)_(5971108_?)dup
NC_000016.9:g.(?_3711968)_(3781958_?)del
NC_000016.9:g.(?_3721703)_(3790570_?)del
NC_000016.9:g.(?_3781438)_(3788947_?)del
NC_000016.9:g.(?_3786017)_(3786836_?)dup
NC_000016.9:g.(?_3786017)_(3860800_?)del
NC_000016.9:g.(?_3786631)_(3790570_?)dup
NC_000016.9:g.(?_3799608)_(3821007_?)dup
NC_000016.9:g.(?_3817701)_(3817930_?)dup
NC_000016.9:g.(?_3817701)_(3860800_?)del
NC_000016.9:g.(?_3823732)_(3831327_?)del
NC_000016.9:g.(?_3827594)_(3832947_?)del
NC_000016.9:g.(?_3829526)_(3830870_?)del
NC_000016.9:g.(?_3841962)_(3843647_?)del
NC_000016.9:g.(?_3860584)_(3860800_?)del
NC_000016.9:g.(?_3900278)_(3901030_?)del
NC_000016.9:g.(?_3900278)_(3929917_?)del
NC_000016.9:g.(?_3929813)_(4387545_?)dup
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)
NM_004380.3(CREBBP):c.-204_85del (p.Met1fs) rs1567386034
NM_004380.3(CREBBP):c.1008C>A (p.Pro336=)
NM_004380.3(CREBBP):c.1032C>T (p.Pro344=) rs1439239512
NM_004380.3(CREBBP):c.1043C>T (p.Pro348Leu)
NM_004380.3(CREBBP):c.1092T>C (p.Ala364=)
NM_004380.3(CREBBP):c.1095T>C (p.His365=) rs565069106
NM_004380.3(CREBBP):c.1104G>A (p.Gln368=)
NM_004380.3(CREBBP):c.1109G>C (p.Arg370Pro) rs1179677806
NM_004380.3(CREBBP):c.1119A>T (p.Ala373=)
NM_004380.3(CREBBP):c.1122C>T (p.Asn374=)
NM_004380.3(CREBBP):c.1128G>A (p.Glu376=)
NM_004380.3(CREBBP):c.1133G>T (p.Arg378Leu)
NM_004380.3(CREBBP):c.1146C>T (p.Leu382=)
NM_004380.3(CREBBP):c.1148C>T (p.Pro383Leu) rs2053545106
NM_004380.3(CREBBP):c.1155T>C (p.Cys385=)
NM_004380.3(CREBBP):c.1157G>A (p.Arg386Gln)
NM_004380.3(CREBBP):c.1161C>T (p.Thr387=)
NM_004380.3(CREBBP):c.1188G>A (p.Thr396=)
NM_004380.3(CREBBP):c.1216+4A>G
NM_004380.3(CREBBP):c.1217-16G>A
NM_004380.3(CREBBP):c.1217-17T>C
NM_004380.3(CREBBP):c.1217-19G>A
NM_004380.3(CREBBP):c.1217-20C>T
NM_004380.3(CREBBP):c.1217-4A>G
NM_004380.3(CREBBP):c.1217-7G>A rs2053519519
NM_004380.3(CREBBP):c.1217-7G>T
NM_004380.3(CREBBP):c.1233T>C (p.Ser411=)
NM_004380.3(CREBBP):c.1327C>T (p.Gln443Ter)
NM_004380.3(CREBBP):c.1330+16G>A
NM_004380.3(CREBBP):c.1331-12_1331-9del rs765955245
NM_004380.3(CREBBP):c.1331-24CTGT[2]
NM_004380.3(CREBBP):c.1331-24CTGT[4]
NM_004380.3(CREBBP):c.1331-7G>A
NM_004380.3(CREBBP):c.1360C>T (p.Gln454Ter) rs2053306001
NM_004380.3(CREBBP):c.1388_1395del (p.Gly463fs) rs2053305017
NM_004380.3(CREBBP):c.1389G>A (p.Gly463=)
NM_004380.3(CREBBP):c.1406C>G (p.Ser469Cys)
NM_004380.3(CREBBP):c.140A>G (p.Asn47Ser)
NM_004380.3(CREBBP):c.1416C>T (p.Asn472=)
NM_004380.3(CREBBP):c.1447C>T (p.Arg483Ter) rs1555484797
NM_004380.3(CREBBP):c.1451C>T (p.Ala484Val)
NM_004380.3(CREBBP):c.1455T>C (p.Tyr485=)
NM_004380.3(CREBBP):c.1493C>T (p.Thr498Met)
NM_004380.3(CREBBP):c.1500G>A (p.Leu500=)
NM_004380.3(CREBBP):c.1504C>T (p.Pro502Ser)
NM_004380.3(CREBBP):c.1519dup (p.Gln507fs)
NM_004380.3(CREBBP):c.1525C>T (p.Pro509Ser)
NM_004380.3(CREBBP):c.1534C>A (p.Pro512Thr)
NM_004380.3(CREBBP):c.1549C>T (p.Gln517Ter) rs1596920501
NM_004380.3(CREBBP):c.1551G>A (p.Gln517=)
NM_004380.3(CREBBP):c.1556G>A (p.Arg519Lys)
NM_004380.3(CREBBP):c.1557G>A (p.Arg519=)
NM_004380.3(CREBBP):c.1565A>G (p.Asn522Ser)
NM_004380.3(CREBBP):c.1566C>T (p.Asn522=)
NM_004380.3(CREBBP):c.1574-14T>C
NM_004380.3(CREBBP):c.1574-15_1574-11del
NM_004380.3(CREBBP):c.1574-17C>A
NM_004380.3(CREBBP):c.1574-17C>G
NM_004380.3(CREBBP):c.1574-2A>G rs2141248421
NM_004380.3(CREBBP):c.1577A>G (p.Asn526Ser)
NM_004380.3(CREBBP):c.1582C>G (p.Pro528Ala)
NM_004380.3(CREBBP):c.1594C>A (p.Pro532Thr)
NM_004380.3(CREBBP):c.1605A>C (p.Gly535=)
NM_004380.3(CREBBP):c.1612dup (p.Thr538fs)
NM_004380.3(CREBBP):c.1614A>G (p.Thr538=)
NM_004380.3(CREBBP):c.1618C>T (p.Gln540Ter) rs398124138
NM_004380.3(CREBBP):c.1636A>G (p.Ile546Val)
NM_004380.3(CREBBP):c.1655C>A (p.Pro552Gln)
NM_004380.3(CREBBP):c.1656G>A (p.Pro552=)
NM_004380.3(CREBBP):c.165C>A (p.Asn55Lys)
NM_004380.3(CREBBP):c.1663del (p.Leu555fs) rs2053266530
NM_004380.3(CREBBP):c.1665G>T (p.Leu555=)
NM_004380.3(CREBBP):c.1676+11G>C
NM_004380.3(CREBBP):c.1676+13_1676+14insA
NM_004380.3(CREBBP):c.1676+9C>T
NM_004380.3(CREBBP):c.1677-13A>G
NM_004380.3(CREBBP):c.1677-18T>C
NM_004380.3(CREBBP):c.1677-4T>G
NM_004380.3(CREBBP):c.1678C>A (p.Pro560Thr)
NM_004380.3(CREBBP):c.1679C>A (p.Pro560Gln)
NM_004380.3(CREBBP):c.1690G>A (p.Asp564Asn)
NM_004380.3(CREBBP):c.1725C>T (p.Ser575=)
NM_004380.3(CREBBP):c.172A>T (p.Asn58Tyr)
NM_004380.3(CREBBP):c.1735A>G (p.Thr579Ala)
NM_004380.3(CREBBP):c.1750T>C (p.Ser584Pro)
NM_004380.3(CREBBP):c.1759G>A (p.Gly587Ser)
NM_004380.3(CREBBP):c.175C>T (p.Leu59Phe)
NM_004380.3(CREBBP):c.1779C>T (p.His593=)
NM_004380.3(CREBBP):c.181C>A (p.Pro61Thr)
NM_004380.3(CREBBP):c.1824-19_1824-16del
NM_004380.3(CREBBP):c.1853C>G (p.Pro618Arg)
NM_004380.3(CREBBP):c.1855dup (p.Ala619fs) rs1596909915
NM_004380.3(CREBBP):c.189T>C (p.Ala63=)
NM_004380.3(CREBBP):c.1917dup (p.Met640fs) rs1567306142
NM_004380.3(CREBBP):c.1923C>T (p.Tyr641=)
NM_004380.3(CREBBP):c.1925A>G (p.Glu642Gly)
NM_004380.3(CREBBP):c.1934A>G (p.Asn645Ser)
NM_004380.3(CREBBP):c.1935C>T (p.Asn645=)
NM_004380.3(CREBBP):c.1941+11G>A
NM_004380.3(CREBBP):c.1941+18G>A
NM_004380.3(CREBBP):c.1941+1G>A rs1555483834
NM_004380.3(CREBBP):c.1941+4G>C
NM_004380.3(CREBBP):c.1941+5G>A rs2053202354
NM_004380.3(CREBBP):c.1941+8G>T
NM_004380.3(CREBBP):c.1941G>A (p.Arg647=)
NM_004380.3(CREBBP):c.1942-11T>C
NM_004380.3(CREBBP):c.1942-13T>C
NM_004380.3(CREBBP):c.1942-17A>G
NM_004380.3(CREBBP):c.1942-5T>C rs1482514446
NM_004380.3(CREBBP):c.1984C>A (p.Gln662Lys)
NM_004380.3(CREBBP):c.1986A>G (p.Gln662=)
NM_004380.3(CREBBP):c.2005_2006delinsT (p.Lys668_Arg669insTer) rs1596908213
NM_004380.3(CREBBP):c.2013G>A (p.Ser671=)
NM_004380.3(CREBBP):c.201_202del (p.His67fs)
NM_004380.3(CREBBP):c.2031C>T (p.Gly677=)
NM_004380.3(CREBBP):c.204A>G (p.Lys68=)
NM_004380.3(CREBBP):c.2056C>A (p.Pro686Thr)
NM_004380.3(CREBBP):c.2062C>G (p.Pro688Ala)
NM_004380.3(CREBBP):c.2068G>T (p.Ala690Ser) rs531539047
NM_004380.3(CREBBP):c.2077C>G (p.Pro693Ala)
NM_004380.3(CREBBP):c.2098C>T (p.Pro700Ser)
NM_004380.3(CREBBP):c.2113+11T>C
NM_004380.3(CREBBP):c.2113+13T>C
NM_004380.3(CREBBP):c.2113+19A>G
NM_004380.3(CREBBP):c.2113+20C>T
NM_004380.3(CREBBP):c.2113+3A>G
NM_004380.3(CREBBP):c.2114-14T>C
NM_004380.3(CREBBP):c.2114-5C>A
NM_004380.3(CREBBP):c.2119C>T (p.Pro707Ser)
NM_004380.3(CREBBP):c.2138A>G (p.Asn713Ser)
NM_004380.3(CREBBP):c.213G>A (p.Ser71=)
NM_004380.3(CREBBP):c.2141G>T (p.Arg714Leu) rs141098117
NM_004380.3(CREBBP):c.2158+14T>C
NM_004380.3(CREBBP):c.2158+18G>A
NM_004380.3(CREBBP):c.2158+19T>C
NM_004380.3(CREBBP):c.2159-12G>A
NM_004380.3(CREBBP):c.2159-15T>C
NM_004380.3(CREBBP):c.2159-19G>A
NM_004380.3(CREBBP):c.2159-20C>T
NM_004380.3(CREBBP):c.2167T>G (p.Ser723Ala)
NM_004380.3(CREBBP):c.2169A>T (p.Ser723=)
NM_004380.3(CREBBP):c.2177C>A (p.Pro726His)
NM_004380.3(CREBBP):c.2179A>G (p.Met727Val)
NM_004380.3(CREBBP):c.2181G>T (p.Met727Ile)
NM_004380.3(CREBBP):c.2194G>A (p.Val732Ile)
NM_004380.3(CREBBP):c.2224C>T (p.Arg742Cys)
NM_004380.3(CREBBP):c.222A>G (p.Leu74=)
NM_004380.3(CREBBP):c.2233del (p.Ser745fs) rs2053092574
NM_004380.3(CREBBP):c.225A>C (p.Arg75=)
NM_004380.3(CREBBP):c.2264G>A (p.Ser755Asn)
NM_004380.3(CREBBP):c.2283+11T>C
NM_004380.3(CREBBP):c.2283+16C>T
NM_004380.3(CREBBP):c.2283+18C>G
NM_004380.3(CREBBP):c.2283+1G>T
NM_004380.3(CREBBP):c.2284-5C>T
NM_004380.3(CREBBP):c.2284-7C>T
NM_004380.3(CREBBP):c.2287G>T (p.Ala763Ser)
NM_004380.3(CREBBP):c.2302C>T (p.Arg768Ter) rs1057520652
NM_004380.3(CREBBP):c.2303G>A (p.Arg768Gln) rs754386072
NM_004380.3(CREBBP):c.2306T>A (p.Met769Lys)
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg) rs147805823
NM_004380.3(CREBBP):c.2322del (p.Asn774fs) rs1596895545
NM_004380.3(CREBBP):c.2323A>G (p.Met775Val) rs990281677
NM_004380.3(CREBBP):c.2339C>A (p.Thr780Asn)
NM_004380.3(CREBBP):c.2347A>G (p.Met783Val)
NM_004380.3(CREBBP):c.2347A>T (p.Met783Leu)
NM_004380.3(CREBBP):c.2348T>G (p.Met783Arg)
NM_004380.3(CREBBP):c.2349G>C (p.Met783Ile)
NM_004380.3(CREBBP):c.234C>T (p.Ser78=)
NM_004380.3(CREBBP):c.2355_2366del (p.Ala787_Gln790del) rs755265819
NM_004380.3(CREBBP):c.235G>A (p.Gly79Ser)
NM_004380.3(CREBBP):c.2360C>T (p.Ala787Val)
NM_004380.3(CREBBP):c.2361G>A (p.Ala787=)
NM_004380.3(CREBBP):c.2388G>A (p.Gln796=)
NM_004380.3(CREBBP):c.2415G>C (p.Ala805=)
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr) rs750178517
NM_004380.3(CREBBP):c.2441C>G (p.Pro814Arg)
NM_004380.3(CREBBP):c.2450C>T (p.Thr817Ile)
NM_004380.3(CREBBP):c.2463+17G>A
NM_004380.3(CREBBP):c.2463+4C>T
NM_004380.3(CREBBP):c.2464-17_2464-16del
NM_004380.3(CREBBP):c.2464-19C>G
NM_004380.3(CREBBP):c.2464-1G>A rs2052993075
NM_004380.3(CREBBP):c.2464-6T>A rs2052993184
NM_004380.3(CREBBP):c.2466A>G (p.Gly822=)
NM_004380.3(CREBBP):c.246C>T (p.Ile82=)
NM_004380.3(CREBBP):c.248A>C (p.Asn83Thr)
NM_004380.3(CREBBP):c.2497C>T (p.Leu833Phe)
NM_004380.3(CREBBP):c.24A>G (p.Gly8=)
NM_004380.3(CREBBP):c.2501A>G (p.Asn834Ser)
NM_004380.3(CREBBP):c.2502C>T (p.Asn834=)
NM_004380.3(CREBBP):c.250C>A (p.Pro84Thr) rs770952413
NM_004380.3(CREBBP):c.2511G>T (p.Gly837=)
NM_004380.3(CREBBP):c.2512C>A (p.Pro838Thr)
NM_004380.3(CREBBP):c.2523C>T (p.Ser841=)
NM_004380.3(CREBBP):c.2526_2529dup (p.Pro844fs)
NM_004380.3(CREBBP):c.2527C>G (p.Leu843Val)
NM_004380.3(CREBBP):c.2528T>C (p.Leu843Pro)
NM_004380.3(CREBBP):c.252A>G (p.Pro84=) rs727503893
NM_004380.3(CREBBP):c.2537C>G (p.Pro846Arg)
NM_004380.3(CREBBP):c.2537C>T (p.Pro846Leu)
NM_004380.3(CREBBP):c.2556A>G (p.Pro852=)
NM_004380.3(CREBBP):c.255A>G (p.Gly85=)
NM_004380.3(CREBBP):c.2561A>C (p.His854Pro)
NM_004380.3(CREBBP):c.2571G>A (p.Pro857=)
NM_004380.3(CREBBP):c.2571G>T (p.Pro857=)
NM_004380.3(CREBBP):c.2574dup (p.Pro859fs) rs2141203402
NM_004380.3(CREBBP):c.2585C>T (p.Thr862Met)
NM_004380.3(CREBBP):c.258A>G (p.Ile86Met) rs2054819160
NM_004380.3(CREBBP):c.2596A>G (p.Met866Val)
NM_004380.3(CREBBP):c.2601A>G (p.Pro867=)
NM_004380.3(CREBBP):c.2638C>T (p.Pro880Ser)
NM_004380.3(CREBBP):c.2643G>C (p.Gln881His)
NM_004380.3(CREBBP):c.2644C>T (p.Pro882Ser)
NM_004380.3(CREBBP):c.2663C>T (p.Pro888Leu)
NM_004380.3(CREBBP):c.2664A>G (p.Pro888=)
NM_004380.3(CREBBP):c.2697C>T (p.Pro899=) rs747968181
NM_004380.3(CREBBP):c.2702C>T (p.Pro901Leu)
NM_004380.3(CREBBP):c.2703G>A (p.Pro901=)
NM_004380.3(CREBBP):c.270C>T (p.Ser90=)
NM_004380.3(CREBBP):c.2712C>G (p.Gly904=)
NM_004380.3(CREBBP):c.2715A>G (p.Ser905=)
NM_004380.3(CREBBP):c.2716G>C (p.Val906Leu)
NM_004380.3(CREBBP):c.2726C>G (p.Ala909Gly)
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser) rs143247685
NM_004380.3(CREBBP):c.273C>T (p.Ala91=)
NM_004380.3(CREBBP):c.2744C>T (p.Thr915Ile)
NM_004380.3(CREBBP):c.274A>G (p.Ser92Gly)
NM_004380.3(CREBBP):c.2750C>T (p.Thr917Ile)
NM_004380.3(CREBBP):c.2755C>T (p.Gln919Ter) rs1596886183
NM_004380.3(CREBBP):c.2765C>A (p.Ala922Asp)
NM_004380.3(CREBBP):c.2778G>T (p.Val926=)
NM_004380.3(CREBBP):c.2783C>T (p.Pro928Leu)
NM_004380.3(CREBBP):c.2788C>T (p.Pro930Ser)
NM_004380.3(CREBBP):c.278G>A (p.Ser93Asn)
NM_004380.3(CREBBP):c.2794del (p.Thr932fs) rs2052980008
NM_004380.3(CREBBP):c.2803C>T (p.Gln935Ter)
NM_004380.3(CREBBP):c.2806_2811del (p.Pro936_Pro937del) rs2141199443
NM_004380.3(CREBBP):c.2828A>G (p.Gln943Arg)
NM_004380.3(CREBBP):c.282C>T (p.Pro94=)
NM_004380.3(CREBBP):c.2830T>C (p.Ser944Pro)
NM_004380.3(CREBBP):c.2836C>T (p.Gln946Ter)
NM_004380.3(CREBBP):c.283G>A (p.Val95Met) rs756802946
NM_004380.3(CREBBP):c.2847G>A (p.Pro949=)
NM_004380.3(CREBBP):c.2849C>A (p.Thr950Lys)
NM_004380.3(CREBBP):c.2851C>A (p.Pro951Thr)
NM_004380.3(CREBBP):c.2852C>T (p.Pro951Leu)
NM_004380.3(CREBBP):c.2853T>C (p.Pro951=)
NM_004380.3(CREBBP):c.2854G>T (p.Val952Leu)
NM_004380.3(CREBBP):c.2880+17_2880+18del
NM_004380.3(CREBBP):c.2881-13G>A rs751913060
NM_004380.3(CREBBP):c.2881-14C>G
NM_004380.3(CREBBP):c.2881-14C>T
NM_004380.3(CREBBP):c.2881-17T>C
NM_004380.3(CREBBP):c.2881-18C>A
NM_004380.3(CREBBP):c.2881-4A>G
NM_004380.3(CREBBP):c.288G>A (p.Gln96=)
NM_004380.3(CREBBP):c.2903T>C (p.Ile968Thr) rs147795744
NM_004380.3(CREBBP):c.2917C>A (p.Pro973Thr)
NM_004380.3(CREBBP):c.2924C>T (p.Pro975Leu)
NM_004380.3(CREBBP):c.2928C>T (p.Ser976=)
NM_004380.3(CREBBP):c.2934G>T (p.Val978=)
NM_004380.3(CREBBP):c.2942C>T (p.Ala981Val)
NM_004380.3(CREBBP):c.2951A>G (p.Asn984Ser)
NM_004380.3(CREBBP):c.2977C>T (p.Pro993Ser) rs886042430
NM_004380.3(CREBBP):c.2980G>A (p.Val994Met)
NM_004380.3(CREBBP):c.2992A>G (p.Lys998Glu)
NM_004380.3(CREBBP):c.2995A>G (p.Thr999Ala)
NM_004380.3(CREBBP):c.2996C>T (p.Thr999Met)
NM_004380.3(CREBBP):c.3003C>T (p.Thr1001=)
NM_004380.3(CREBBP):c.3008C>G (p.Ala1003Gly)
NM_004380.3(CREBBP):c.3025G>A (p.Asp1009Asn)
NM_004380.3(CREBBP):c.3025G>T (p.Asp1009Tyr)
NM_004380.3(CREBBP):c.3036A>T (p.Glu1012Asp)
NM_004380.3(CREBBP):c.3044_3046del (p.Gly1015del)
NM_004380.3(CREBBP):c.3061-12G>A
NM_004380.3(CREBBP):c.3061-19C>G
NM_004380.3(CREBBP):c.3061-6C>G
NM_004380.3(CREBBP):c.3099_3102del (p.Glu1034fs)
NM_004380.3(CREBBP):c.309T>C (p.Ala103=)
NM_004380.3(CREBBP):c.3129A>G (p.Ser1043=)
NM_004380.3(CREBBP):c.3133C>G (p.Pro1045Ala)
NM_004380.3(CREBBP):c.314_315del (p.Gly105fs) rs1597054430
NM_004380.3(CREBBP):c.3151A>G (p.Lys1051Glu)
NM_004380.3(CREBBP):c.3161A>G (p.Glu1054Gly)
NM_004380.3(CREBBP):c.3175G>C (p.Val1059Leu)
NM_004380.3(CREBBP):c.3178_3183del (p.Lys1060_Glu1061del)
NM_004380.3(CREBBP):c.3185A>C (p.Glu1062Ala)
NM_004380.3(CREBBP):c.318G>C (p.Gln106His)
NM_004380.3(CREBBP):c.318G>T (p.Gln106His)
NM_004380.3(CREBBP):c.3200G>A (p.Ser1067Asn)
NM_004380.3(CREBBP):c.3205G>A (p.Gly1069Ser)
NM_004380.3(CREBBP):c.3205G>T (p.Gly1069Cys) rs555109138
NM_004380.3(CREBBP):c.3208A>C (p.Thr1070Pro)
NM_004380.3(CREBBP):c.320C>G (p.Pro107Arg) rs766844540
NM_004380.3(CREBBP):c.3212C>T (p.Ala1071Val)
NM_004380.3(CREBBP):c.3214T>G (p.Ser1072Ala)
NM_004380.3(CREBBP):c.3219G>A (p.Gln1073=)
NM_004380.3(CREBBP):c.3223A>G (p.Thr1075Ala)
NM_004380.3(CREBBP):c.3234G>T (p.Ser1078=)
NM_004380.3(CREBBP):c.3235C>T (p.Gln1079Ter)
NM_004380.3(CREBBP):c.3238C>G (p.Pro1080Ala)
NM_004380.3(CREBBP):c.323A>G (p.Asn108Ser)
NM_004380.3(CREBBP):c.3240G>A (p.Pro1080=)
NM_004380.3(CREBBP):c.3242G>A (p.Arg1081His)
NM_004380.3(CREBBP):c.3248_3250+4del
NM_004380.3(CREBBP):c.3250+11T>C
NM_004380.3(CREBBP):c.3250+15C>T
NM_004380.3(CREBBP):c.3250+16A>T
NM_004380.3(CREBBP):c.3250+4G>A
NM_004380.3(CREBBP):c.3250A>C (p.Ile1084Leu)
NM_004380.3(CREBBP):c.3250A>T (p.Ile1084Phe)
NM_004380.3(CREBBP):c.3251-13G>A
NM_004380.3(CREBBP):c.3251-19C>T
NM_004380.3(CREBBP):c.3251-8C>G
NM_004380.3(CREBBP):c.326G>A (p.Ser109Asn)
NM_004380.3(CREBBP):c.3287C>T (p.Pro1096Leu)
NM_004380.3(CREBBP):c.32A>G (p.Asn11Ser)
NM_004380.3(CREBBP):c.3307C>T (p.Arg1103Ter)
NM_004380.3(CREBBP):c.3336G>A (p.Arg1112=)
NM_004380.3(CREBBP):c.3360C>T (p.Leu1120=)
NM_004380.3(CREBBP):c.3369+1G>A rs587783480
NM_004380.3(CREBBP):c.3370-10T>A
NM_004380.3(CREBBP):c.3370-16dup rs75459669
NM_004380.3(CREBBP):c.3370-18C>A
NM_004380.3(CREBBP):c.3370-4del rs75459669
NM_004380.3(CREBBP):c.3370-5_3370-4del rs75459669
NM_004380.3(CREBBP):c.3375T>G (p.Tyr1125Ter)
NM_004380.3(CREBBP):c.3384C>T (p.Ile1128=)
NM_004380.3(CREBBP):c.3410C>G (p.Thr1137Ser)
NM_004380.3(CREBBP):c.3425T>C (p.Leu1142Pro) rs2151383792
NM_004380.3(CREBBP):c.3438A>G (p.Gln1146=)
NM_004380.3(CREBBP):c.3459C>T (p.Tyr1153=)
NM_004380.3(CREBBP):c.3465C>A (p.Asp1155Glu)
NM_004380.3(CREBBP):c.3468C>T (p.Asp1156=)
NM_004380.3(CREBBP):c.3469G>C (p.Val1157Leu)
NM_004380.3(CREBBP):c.346A>G (p.Ser116Gly) rs587778211
NM_004380.3(CREBBP):c.3473G>C (p.Trp1158Ser)
NM_004380.3(CREBBP):c.3494_3497dup (p.Tyr1167fs)
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys) rs587783481
NM_004380.3(CREBBP):c.3506G>A (p.Arg1169His)
NM_004380.3(CREBBP):c.3507C>G (p.Arg1169=)
NM_004380.3(CREBBP):c.3516C>T (p.Ser1172=) rs2151383343
NM_004380.3(CREBBP):c.351C>T (p.Ala117=)
NM_004380.3(CREBBP):c.3531T>C (p.Phe1177=)
NM_004380.3(CREBBP):c.3573T>C (p.Pro1191=) rs536159666
NM_004380.3(CREBBP):c.3591A>T (p.Gly1197=)
NM_004380.3(CREBBP):c.3609+20C>T
NM_004380.3(CREBBP):c.3610-14C>T
NM_004380.3(CREBBP):c.3610-1G>A rs1596852670
NM_004380.3(CREBBP):c.3615G>A (p.Glu1205=)
NM_004380.3(CREBBP):c.3629C>G (p.Thr1210Ser)
NM_004380.3(CREBBP):c.3634_3638del (p.Cys1212fs) rs2052610724
NM_004380.3(CREBBP):c.3639C>T (p.Cys1213=)
NM_004380.3(CREBBP):c.363C>A (p.Ser121Arg)
NM_004380.3(CREBBP):c.3667C>T (p.Arg1223Cys)
NM_004380.3(CREBBP):c.3673G>A (p.Ala1225Thr) rs2052609627
NM_004380.3(CREBBP):c.3676del (p.Ala1226fs) rs2151381815
NM_004380.3(CREBBP):c.3698+11A>G
NM_004380.3(CREBBP):c.3698+6C>T
NM_004380.3(CREBBP):c.36del (p.Arg14fs) rs2055490682
NM_004380.3(CREBBP):c.3706T>A (p.Phe1236Ile)
NM_004380.3(CREBBP):c.3708C>T (p.Phe1236=)
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr) rs1596839714
NM_004380.3(CREBBP):c.3729G>A (p.Glu1243=)
NM_004380.3(CREBBP):c.3729G>C (p.Glu1243Asp)
NM_004380.3(CREBBP):c.3738C>T (p.Gly1246=)
NM_004380.3(CREBBP):c.3748_3749dup (p.Leu1251fs)
NM_004380.3(CREBBP):c.3759C>T (p.Asp1253=)
NM_004380.3(CREBBP):c.375G>A (p.Gln125=)
NM_004380.3(CREBBP):c.3760G>A (p.Asp1254Asn)
NM_004380.3(CREBBP):c.3765T>G (p.Pro1255=)
NM_004380.3(CREBBP):c.3771G>T (p.Gln1257His)
NM_004380.3(CREBBP):c.3779+10G>A
NM_004380.3(CREBBP):c.3779+1G>T rs587783483
NM_004380.3(CREBBP):c.3780-12T>C
NM_004380.3(CREBBP):c.3782C>A (p.Thr1261Lys)
NM_004380.3(CREBBP):c.37A>C (p.Lys13Gln) rs587783484
NM_004380.3(CREBBP):c.3804A>G (p.Glu1268=)
NM_004380.3(CREBBP):c.381TTC[1] (p.Ser129del)
NM_004380.3(CREBBP):c.382T>C (p.Ser128Pro)
NM_004380.3(CREBBP):c.3836+15A>G
NM_004380.3(CREBBP):c.3836+1G>A rs200782888
NM_004380.3(CREBBP):c.3836+1G>C rs200782888
NM_004380.3(CREBBP):c.3837-19C>T
NM_004380.3(CREBBP):c.3839T>G (p.Phe1280Cys) rs2151355973
NM_004380.3(CREBBP):c.3841G>T (p.Val1281Phe)
NM_004380.3(CREBBP):c.3844G>A (p.Asp1282Asn)
NM_004380.3(CREBBP):c.3883G>A (p.Val1295Ile)
NM_004380.3(CREBBP):c.390C>T (p.Ala130=)
NM_004380.3(CREBBP):c.3914+11T>A
NM_004380.3(CREBBP):c.3914+11T>G
NM_004380.3(CREBBP):c.3914+13C>T
NM_004380.3(CREBBP):c.3914+17_3914+32del
NM_004380.3(CREBBP):c.3914+20C>T
NM_004380.3(CREBBP):c.3915-15A>G
NM_004380.3(CREBBP):c.3915-20A>C
NM_004380.3(CREBBP):c.3918T>C (p.Phe1306=)
NM_004380.3(CREBBP):c.3920T>C (p.Val1307Ala) rs2151354200
NM_004380.3(CREBBP):c.3924C>T (p.Cys1308=)
NM_004380.3(CREBBP):c.3925G>A (p.Asp1309Asn)
NM_004380.3(CREBBP):c.3930C>T (p.Asn1310=)
NM_004380.3(CREBBP):c.3934T>G (p.Leu1312Val)
NM_004380.3(CREBBP):c.3946G>A (p.Gly1316Ser)
NM_004380.3(CREBBP):c.395G>A (p.Ser132Asn)
NM_004380.3(CREBBP):c.3973A>C (p.Ser1325Arg)
NM_004380.3(CREBBP):c.3977del (p.Ala1326fs) rs1567276741
NM_004380.3(CREBBP):c.3978T>C (p.Ala1326=) rs2151353919
NM_004380.3(CREBBP):c.3982+14A>C
NM_004380.3(CREBBP):c.3982+15del
NM_004380.3(CREBBP):c.3982+19T>C
NM_004380.3(CREBBP):c.3983-17C>G
NM_004380.3(CREBBP):c.3983-4del
NM_004380.3(CREBBP):c.3983-7T>C
NM_004380.3(CREBBP):c.4011C>T (p.His1337=)
NM_004380.3(CREBBP):c.4043G>A (p.Arg1348His)
NM_004380.3(CREBBP):c.4062C>T (p.Ala1354=)
NM_004380.3(CREBBP):c.4063G>A (p.Gly1355Arg)
NM_004380.3(CREBBP):c.4068G>A (p.Glu1356=)
NM_004380.3(CREBBP):c.4090A>G (p.Ser1364Gly)
NM_004380.3(CREBBP):c.4104G>A (p.Thr1368=)
NM_004380.3(CREBBP):c.4110G>A (p.Glu1370=)
NM_004380.3(CREBBP):c.4119C>G (p.Pro1373=)
NM_004380.3(CREBBP):c.412G>A (p.Ala138Thr)
NM_004380.3(CREBBP):c.4133+20A>G
NM_004380.3(CREBBP):c.4133+6TG[4]
NM_004380.3(CREBBP):c.4133+7G>A
NM_004380.3(CREBBP):c.413C>G (p.Ala138Gly)
NM_004380.3(CREBBP):c.4158T>A (p.Ser1386=)
NM_004380.3(CREBBP):c.4161A>G (p.Glu1387=)
NM_004380.3(CREBBP):c.4170A>G (p.Pro1390=)
NM_004380.3(CREBBP):c.4185T>C (p.Ala1395=)
NM_004380.3(CREBBP):c.4210G>A (p.Gly1404Ser)
NM_004380.3(CREBBP):c.4216G>T (p.Asp1406Tyr) rs2052153254
NM_004380.3(CREBBP):c.4230dup (p.Gly1411fs) rs1555473668
NM_004380.3(CREBBP):c.4232del (p.Gly1411fs)
NM_004380.3(CREBBP):c.4240G>A (p.Val1414Ile)
NM_004380.3(CREBBP):c.4252G>A (p.Gly1418Ser)
NM_004380.3(CREBBP):c.4263C>T (p.Cys1421=)
NM_004380.3(CREBBP):c.4266C>G (p.Pro1422=)
NM_004380.3(CREBBP):c.4277C>T (p.Thr1426Met)
NM_004380.3(CREBBP):c.4278G>A (p.Thr1426=)
NM_004380.3(CREBBP):c.4280+20del
NM_004380.3(CREBBP):c.4281-19A>G
NM_004380.3(CREBBP):c.4296T>G (p.Ser1432=)
NM_004380.3(CREBBP):c.4299T>C (p.Tyr1433=)
NM_004380.3(CREBBP):c.4311T>A (p.Ile1437=)
NM_004380.3(CREBBP):c.431C>T (p.Thr144Ile)
NM_004380.3(CREBBP):c.4321C>T (p.Arg1441Trp)
NM_004380.3(CREBBP):c.4329T>A (p.Arg1443=)
NM_004380.3(CREBBP):c.432C>T (p.Thr144=)
NM_004380.3(CREBBP):c.4332C>T (p.Cys1444=)
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys) rs398124146
NM_004380.3(CREBBP):c.4340C>T (p.Thr1447Ile) rs2151334254
NM_004380.3(CREBBP):c.435C>G (p.Pro145=)
NM_004380.3(CREBBP):c.4364T>G (p.Ile1455Ser)
NM_004380.3(CREBBP):c.436G>A (p.Ala146Thr)
NM_004380.3(CREBBP):c.4371T>C (p.Tyr1457=)
NM_004380.3(CREBBP):c.4392A>G (p.Leu1464=)
NM_004380.3(CREBBP):c.4394+3G>A
NM_004380.3(CREBBP):c.4394+5G>C
NM_004380.3(CREBBP):c.4394+9G>C
NM_004380.3(CREBBP):c.4394G>A (p.Gly1465Glu) rs1555473491
NM_004380.3(CREBBP):c.4395-13G>T rs761012080
NM_004380.3(CREBBP):c.4395-14C>T
NM_004380.3(CREBBP):c.4395-2A>C rs2151330226
NM_004380.3(CREBBP):c.4395-6C>T rs2151330246
NM_004380.3(CREBBP):c.4397A>T (p.Tyr1466Phe)
NM_004380.3(CREBBP):c.4404dup (p.Gly1469fs) rs2052073167
NM_004380.3(CREBBP):c.4409A>C (p.His1470Pro)
NM_004380.3(CREBBP):c.4421_4422delinsTC (p.Cys1474Phe) rs1555473126
NM_004380.3(CREBBP):c.4438GAT[1] (p.Asp1481del)
NM_004380.3(CREBBP):c.4440T>C (p.Asp1480=)
NM_004380.3(CREBBP):c.444C>G (p.Ser148=)
NM_004380.3(CREBBP):c.4452C>T (p.Phe1484=)
NM_004380.3(CREBBP):c.4457_4458del (p.Cys1486fs)
NM_004380.3(CREBBP):c.4465C>A (p.Pro1489Thr)
NM_004380.3(CREBBP):c.4465C>G (p.Pro1489Ala) rs1303444757
NM_004380.3(CREBBP):c.4471C>T (p.Gln1491Ter)
NM_004380.3(CREBBP):c.4480C>T (p.Pro1494Ser) rs199817036
NM_004380.3(CREBBP):c.4482del (p.Lys1495fs)
NM_004380.3(CREBBP):c.4492C>T (p.Arg1498Ter) rs2052070776
NM_004380.3(CREBBP):c.44C>G (p.Ala15Gly)
NM_004380.3(CREBBP):c.4530G>A (p.Ala1510=)
NM_004380.3(CREBBP):c.4530G>T (p.Ala1510=)
NM_004380.3(CREBBP):c.4548C>T (p.Ile1516=)
NM_004380.3(CREBBP):c.4559A>G (p.Lys1520Arg) rs1596805575
NM_004380.3(CREBBP):c.4560+10G>A
NM_004380.3(CREBBP):c.4560+11C>A
NM_004380.3(CREBBP):c.4560+20G>T
NM_004380.3(CREBBP):c.4561-1G>A rs2151327974
NM_004380.3(CREBBP):c.4561-20_4561-19del
NM_004380.3(CREBBP):c.4561-2A>T rs2151327978
NM_004380.3(CREBBP):c.4561-3C>A
NM_004380.3(CREBBP):c.4561-7C>T
NM_004380.3(CREBBP):c.4561-9C>T
NM_004380.3(CREBBP):c.4578A>C (p.Ala1526=)
NM_004380.3(CREBBP):c.459G>C (p.Pro153=)
NM_004380.3(CREBBP):c.45C>G (p.Ala15=)
NM_004380.3(CREBBP):c.4612C>T (p.Pro1538Ser)
NM_004380.3(CREBBP):c.4615T>A (p.Tyr1539Asn)
NM_004380.3(CREBBP):c.4624G>T (p.Gly1542Cys)
NM_004380.3(CREBBP):c.4626T>C (p.Gly1542=)
NM_004380.3(CREBBP):c.463G>A (p.Ala155Thr)
NM_004380.3(CREBBP):c.4640A>G (p.Asn1547Ser)
NM_004380.3(CREBBP):c.4641T>C (p.Asn1547=)
NM_004380.3(CREBBP):c.4644_4645del (p.Leu1549fs) rs1555472938
NM_004380.3(CREBBP):c.4649A>C (p.Glu1550Ala)
NM_004380.3(CREBBP):c.4662G>A (p.Lys1554=)
NM_004380.3(CREBBP):c.4663G>T (p.Glu1555Ter) rs1555472931
NM_004380.3(CREBBP):c.4672C>T (p.Gln1558Ter) rs778375586
NM_004380.3(CREBBP):c.4674AGA[2] (p.Glu1562del)
NM_004380.3(CREBBP):c.4679_4683del (p.Glu1560fs) rs2151327706
NM_004380.3(CREBBP):c.4683G>A (p.Glu1561=)
NM_004380.3(CREBBP):c.4695G>A (p.Lys1565=)
NM_004380.3(CREBBP):c.4721C>G (p.Thr1574Ser)
NM_004380.3(CREBBP):c.4722C>T (p.Thr1574=)
NM_004380.3(CREBBP):c.4726G>A (p.Glu1576Lys)
NM_004380.3(CREBBP):c.4728+4C>G
NM_004380.3(CREBBP):c.4728+8C>T
NM_004380.3(CREBBP):c.4729-12G>A
NM_004380.3(CREBBP):c.4729-13C>T
NM_004380.3(CREBBP):c.4729-14G>A rs130008
NM_004380.3(CREBBP):c.4729-14G>C rs130008
NM_004380.3(CREBBP):c.4729-17C>T
NM_004380.3(CREBBP):c.4729-18C>G
NM_004380.3(CREBBP):c.472del (p.Gln158fs) rs1555496581
NM_004380.3(CREBBP):c.4735C>G (p.Gln1579Glu) rs746079826
NM_004380.3(CREBBP):c.4737G>A (p.Gln1579=)
NM_004380.3(CREBBP):c.4743del (p.Asp1581fs)
NM_004380.3(CREBBP):c.475G>A (p.Val159Met)
NM_004380.3(CREBBP):c.4764G>A (p.Lys1588=)
NM_004380.3(CREBBP):c.4764G>C (p.Lys1588Asn)
NM_004380.3(CREBBP):c.4767C>G (p.Asn1589Lys)
NM_004380.3(CREBBP):c.4767C>T (p.Asn1589=)
NM_004380.3(CREBBP):c.4788C>T (p.Asn1596=)
NM_004380.3(CREBBP):c.4795A>G (p.Ser1599Gly)
NM_004380.3(CREBBP):c.4806C>T (p.Arg1602=)
NM_004380.3(CREBBP):c.4807G>A (p.Ala1603Thr)
NM_004380.3(CREBBP):c.4835A>G (p.Asn1612Ser)
NM_004380.3(CREBBP):c.4836C>T (p.Asn1612=)
NM_004380.3(CREBBP):c.4844A>G (p.Asn1615Ser)
NM_004380.3(CREBBP):c.4846G>A (p.Asp1616Asn)
NM_004380.3(CREBBP):c.4861C>T (p.Leu1621=)
NM_004380.3(CREBBP):c.4866T>C (p.Tyr1622=)
NM_004380.3(CREBBP):c.4890+16G>A
NM_004380.3(CREBBP):c.4890+17G>A
NM_004380.3(CREBBP):c.4890+8T>C
NM_004380.3(CREBBP):c.4891-12C>T
NM_004380.3(CREBBP):c.4891-17C>T
NM_004380.3(CREBBP):c.4891-6C>T
NM_004380.3(CREBBP):c.4891-8T>C
NM_004380.3(CREBBP):c.4893C>A (p.Val1631=)
NM_004380.3(CREBBP):c.4894T>G (p.Phe1632Val)
NM_004380.3(CREBBP):c.4899C>T (p.Phe1633=)
NM_004380.3(CREBBP):c.490A>G (p.Ser164Gly)
NM_004380.3(CREBBP):c.4910T>C (p.Leu1637Pro)
NM_004380.3(CREBBP):c.4926C>T (p.Val1642=)
NM_004380.3(CREBBP):c.4929C>T (p.Ile1643=)
NM_004380.3(CREBBP):c.4942C>T (p.Pro1648Ser)
NM_004380.3(CREBBP):c.4943C>A (p.Pro1648His)
NM_004380.3(CREBBP):c.4944C>A (p.Pro1648=) rs375829291
NM_004380.3(CREBBP):c.4944dup (p.Ile1649fs) rs2151317319
NM_004380.3(CREBBP):c.4947C>T (p.Ile1649=)
NM_004380.3(CREBBP):c.4962C>G (p.Pro1654=)
NM_004380.3(CREBBP):c.4981A>C (p.Met1661Leu)
NM_004380.3(CREBBP):c.4992C>G (p.Arg1664=)
NM_004380.3(CREBBP):c.4995C>T (p.Asp1665=)
NM_004380.3(CREBBP):c.4996G>A (p.Ala1666Thr)
NM_004380.3(CREBBP):c.49del (p.Leu17fs) rs2055490182
NM_004380.3(CREBBP):c.5001C>T (p.Phe1667=)
NM_004380.3(CREBBP):c.500C>G (p.Ala167Gly)
NM_004380.3(CREBBP):c.5010C>G (p.Leu1670=)
NM_004380.3(CREBBP):c.5010C>T (p.Leu1670=)
NM_004380.3(CREBBP):c.5011G>A (p.Ala1671Thr) rs2151316910
NM_004380.3(CREBBP):c.5014A>T (p.Arg1672Ter) rs1555471874
NM_004380.3(CREBBP):c.5017G>T (p.Asp1673Tyr)
NM_004380.3(CREBBP):c.5025C>A (p.His1675Gln)
NM_004380.3(CREBBP):c.5028G>A (p.Trp1676Ter) rs2051909999
NM_004380.3(CREBBP):c.5034C>T (p.Phe1678=)
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del) rs587783502
NM_004380.3(CREBBP):c.503C>T (p.Thr168Met)
NM_004380.3(CREBBP):c.5049C>T (p.Arg1683=)
NM_004380.3(CREBBP):c.504G>C (p.Thr168=)
NM_004380.3(CREBBP):c.5051C>A (p.Ser1684Tyr) rs1555471841
NM_004380.3(CREBBP):c.5059T>C (p.Ser1687Pro) rs61731407
NM_004380.3(CREBBP):c.5060C>T (p.Ser1687Phe) rs2151316542
NM_004380.3(CREBBP):c.5064G>A (p.Thr1688=)
NM_004380.3(CREBBP):c.508C>T (p.Gln170Ter) rs1555496560
NM_004380.3(CREBBP):c.5091C>G (p.Thr1697=)
NM_004380.3(CREBBP):c.5091C>T (p.Thr1697=)
NM_004380.3(CREBBP):c.5105G>T (p.Arg1702Leu) rs1275659601
NM_004380.3(CREBBP):c.510G>A (p.Gln170=)
NM_004380.3(CREBBP):c.5127G>A (p.Glu1709=)
NM_004380.3(CREBBP):c.5133G>A (p.Lys1711=)
NM_004380.3(CREBBP):c.5139C>T (p.His1713=)
NM_004380.3(CREBBP):c.5140G>A (p.Val1714Met)
NM_004380.3(CREBBP):c.5148G>A (p.Thr1716=)
NM_004380.3(CREBBP):c.5148G>C (p.Thr1716=) rs376575063
NM_004380.3(CREBBP):c.515G>T (p.Gly172Val)
NM_004380.3(CREBBP):c.5163T>C (p.Thr1721=)
NM_004380.3(CREBBP):c.5172+13C>A
NM_004380.3(CREBBP):c.5172+4G>A
NM_004380.3(CREBBP):c.5173-10T>G
NM_004380.3(CREBBP):c.5178C>T (p.Tyr1726=)
NM_004380.3(CREBBP):c.5181C>T (p.Asp1727=)
NM_004380.3(CREBBP):c.5184C>T (p.Leu1728=) rs759268055
NM_004380.3(CREBBP):c.5199T>C (p.Tyr1733=)
NM_004380.3(CREBBP):c.5201A>C (p.Asn1734Thr)
NM_004380.3(CREBBP):c.5205G>A (p.Thr1735=)
NM_004380.3(CREBBP):c.521del (p.Gly174fs)
NM_004380.3(CREBBP):c.5232G>A (p.Lys1744=) rs1567263707
NM_004380.3(CREBBP):c.5234G>C (p.Trp1745Ser)
NM_004380.3(CREBBP):c.5241G>T (p.Leu1747=) rs932933039
NM_004380.3(CREBBP):c.5242G>T (p.Gly1748Cys)
NM_004380.3(CREBBP):c.5264G>A (p.Ser1755Asn)
NM_004380.3(CREBBP):c.5277A>G (p.Pro1759=)
NM_004380.3(CREBBP):c.5286G>A (p.Lys1762=)
NM_004380.3(CREBBP):c.5296_5297insCCCAC (p.Glu1766fs) rs2151311901
NM_004380.3(CREBBP):c.529A>G (p.Met177Val)
NM_004380.3(CREBBP):c.5301_5302insAAGAACCCCCAA (p.Ser1767_Arg1768insLysAsnProGln) rs2151311865
NM_004380.3(CREBBP):c.5334G>T (p.Ser1778=)
NM_004380.3(CREBBP):c.5364C>T (p.Ala1788=)
NM_004380.3(CREBBP):c.5374C>T (p.Leu1792=)
NM_004380.3(CREBBP):c.5398C>T (p.Arg1800Trp)
NM_004380.3(CREBBP):c.5403G>A (p.Val1801=)
NM_004380.3(CREBBP):c.5403G>T (p.Val1801=)
NM_004380.3(CREBBP):c.5404G>A (p.Val1802Met)
NM_004380.3(CREBBP):c.5415C>T (p.Thr1805=)
NM_004380.3(CREBBP):c.5418G>A (p.Lys1806=)
NM_004380.3(CREBBP):c.5439C>T (p.Asn1813=)
NM_004380.3(CREBBP):c.5440G>A (p.Gly1814Arg)
NM_004380.3(CREBBP):c.5451G>A (p.Pro1817=)
NM_004380.3(CREBBP):c.5467A>T (p.Ile1823Phe)
NM_004380.3(CREBBP):c.5489C>G (p.Ala1830Gly)
NM_004380.3(CREBBP):c.5540A>G (p.Lys1847Arg)
NM_004380.3(CREBBP):c.5549T>C (p.Leu1850Pro)
NM_004380.3(CREBBP):c.5557C>G (p.Gln1853Glu)
NM_004380.3(CREBBP):c.5570_5590dup (p.Gln1863_Leu1864insHisArgLeuGlnGlnAlaGln)
NM_004380.3(CREBBP):c.5571C>T (p.His1857=)
NM_004380.3(CREBBP):c.5573G>C (p.Arg1858Pro) rs770325046
NM_004380.3(CREBBP):c.5592C>A (p.Leu1864=)
NM_004380.3(CREBBP):c.5592C>T (p.Leu1864=)
NM_004380.3(CREBBP):c.5600G>A (p.Arg1867Gln) rs1131691326
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln) rs1567263168
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val) rs797045037
NM_004380.3(CREBBP):c.5615T>C (p.Met1872Thr) rs879255381
NM_004380.3(CREBBP):c.5627A>G (p.Asn1876Ser)
NM_004380.3(CREBBP):c.5628C>T (p.Asn1876=)
NM_004380.3(CREBBP):c.5631G>A (p.Val1877=)
NM_004380.3(CREBBP):c.5638C>T (p.Gln1880Ter)
NM_004380.3(CREBBP):c.5641_5642del (p.Leu1882fs) rs1567263114
NM_004380.3(CREBBP):c.5653C>T (p.Pro1885Ser)
NM_004380.3(CREBBP):c.567del (p.Asn190fs) rs2054809165
NM_004380.3(CREBBP):c.5694_5703del (p.Ser1898fs) rs1555471323
NM_004380.3(CREBBP):c.5695A>G (p.Thr1899Ala)
NM_004380.3(CREBBP):c.569A>G (p.Asn190Ser)
NM_004380.3(CREBBP):c.5715C>A (p.Pro1905=)
NM_004380.3(CREBBP):c.5730A>G (p.Gln1910=)
NM_004380.3(CREBBP):c.5739C>T (p.Pro1913=)
NM_004380.3(CREBBP):c.5782C>T (p.Gln1928Ter) rs2151308298
NM_004380.3(CREBBP):c.5790C>G (p.Pro1930=)
NM_004380.3(CREBBP):c.5790C>T (p.Pro1930=)
NM_004380.3(CREBBP):c.5791A>C (p.Thr1931Pro)
NM_004380.3(CREBBP):c.5793C>T (p.Thr1931=)
NM_004380.3(CREBBP):c.5796_5804del (p.Val1933_Thr1935del)
NM_004380.3(CREBBP):c.5804C>T (p.Thr1935Ile) rs2151308115
NM_004380.3(CREBBP):c.5817C>A (p.Thr1939=)
NM_004380.3(CREBBP):c.581del (p.Gly194fs) rs2141491677
NM_004380.3(CREBBP):c.5828C>A (p.Pro1943Gln)
NM_004380.3(CREBBP):c.5828C>T (p.Pro1943Leu)
NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln) rs765600316
NM_004380.3(CREBBP):c.5839C>A (p.Pro1947Thr)
NM_004380.3(CREBBP):c.5839C>T (p.Pro1947Ser)
NM_004380.3(CREBBP):c.5841C>T (p.Pro1947=)
NM_004380.3(CREBBP):c.5845G>A (p.Ala1949Thr)
NM_004380.3(CREBBP):c.5856dup (p.Pro1953fs) rs1596786167
NM_004380.3(CREBBP):c.5873C>T (p.Ala1958Val) rs986406817
NM_004380.3(CREBBP):c.5874G>A (p.Ala1958=)
NM_004380.3(CREBBP):c.5878C>A (p.Arg1960=)
NM_004380.3(CREBBP):c.5886C>A (p.Ile1962=) rs370565083
NM_004380.3(CREBBP):c.5887G>A (p.Glu1963Lys)
NM_004380.3(CREBBP):c.5891G>T (p.Arg1964Leu)
NM_004380.3(CREBBP):c.5902C>T (p.Gln1968Ter)
NM_004380.3(CREBBP):c.5908C>G (p.Gln1970Glu)
NM_004380.3(CREBBP):c.5910G>A (p.Gln1970=)
NM_004380.3(CREBBP):c.5910G>T (p.Gln1970His)
NM_004380.3(CREBBP):c.5919C>T (p.Tyr1973=)
NM_004380.3(CREBBP):c.5921G>A (p.Arg1974Gln)
NM_004380.3(CREBBP):c.5922G>T (p.Arg1974=)
NM_004380.3(CREBBP):c.5934C>G (p.Asn1978Lys)
NM_004380.3(CREBBP):c.5940C>T (p.Ser1980=)
NM_004380.3(CREBBP):c.5949A>G (p.Pro1983=)
NM_004380.3(CREBBP):c.5953C>T (p.Arg1985Cys)
NM_004380.3(CREBBP):c.5956A>G (p.Thr1986Ala)
NM_004380.3(CREBBP):c.5957C>T (p.Thr1986Met)
NM_004380.3(CREBBP):c.5962A>G (p.Met1988Val)
NM_004380.3(CREBBP):c.5969_5977del (p.Thr1990_Gly1992del) rs777318563
NM_004380.3(CREBBP):c.5972C>T (p.Pro1991Leu)
NM_004380.3(CREBBP):c.599A>G (p.Gln200Arg)
NM_004380.3(CREBBP):c.59C>T (p.Pro20Leu)
NM_004380.3(CREBBP):c.6028G>A (p.Gly2010Arg) rs751739281
NM_004380.3(CREBBP):c.6033C>T (p.Pro2011=) rs763241697
NM_004380.3(CREBBP):c.6034G>A (p.Val2012Ile)
NM_004380.3(CREBBP):c.6045C>T (p.Ser2015=)
NM_004380.3(CREBBP):c.6050C>T (p.Pro2017Leu)
NM_004380.3(CREBBP):c.6055G>A (p.Gly2019Arg)
NM_004380.3(CREBBP):c.6071C>G (p.Ala2024Gly)
NM_004380.3(CREBBP):c.6072G>A (p.Ala2024=)
NM_004380.3(CREBBP):c.6077T>A (p.Leu2026His)
NM_004380.3(CREBBP):c.6102C>T (p.Gly2034=)
NM_004380.3(CREBBP):c.6110G>A (p.Arg2037Lys)
NM_004380.3(CREBBP):c.6119T>C (p.Ile2040Thr)
NM_004380.3(CREBBP):c.6124A>T (p.Met2042Leu)
NM_004380.3(CREBBP):c.6130G>A (p.Ala2044Thr)
NM_004380.3(CREBBP):c.6131C>T (p.Ala2044Val)
NM_004380.3(CREBBP):c.6137C>T (p.Ala2046Val)
NM_004380.3(CREBBP):c.6138G>T (p.Ala2046=)
NM_004380.3(CREBBP):c.613C>A (p.Gln205Lys)
NM_004380.3(CREBBP):c.615G>A (p.Gln205=)
NM_004380.3(CREBBP):c.6164G>C (p.Ser2055Thr)
NM_004380.3(CREBBP):c.6186C>T (p.Ile2062=)
NM_004380.3(CREBBP):c.61G>A (p.Gly21Ser)
NM_004380.3(CREBBP):c.6216G>A (p.Arg2072=)
NM_004380.3(CREBBP):c.6227C>A (p.Ser2076Ter)
NM_004380.3(CREBBP):c.6237C>A (p.Ser2079=)
NM_004380.3(CREBBP):c.6237C>T (p.Ser2079=)
NM_004380.3(CREBBP):c.6238_6239del (p.Pro2080fs)
NM_004380.3(CREBBP):c.625A>G (p.Met209Val)
NM_004380.3(CREBBP):c.6273A>G (p.Lys2091=)
NM_004380.3(CREBBP):c.6301A>G (p.Ile2101Val)
NM_004380.3(CREBBP):c.6303C>T (p.Ile2101=)
NM_004380.3(CREBBP):c.6307C>T (p.Gln2103Ter)
NM_004380.3(CREBBP):c.6315A>G (p.Thr2105=)
NM_004380.3(CREBBP):c.6327G>C (p.Val2109=)
NM_004380.3(CREBBP):c.6332A>G (p.Asn2111Ser)
NM_004380.3(CREBBP):c.6339C>T (p.Pro2113=)
NM_004380.3(CREBBP):c.6339_6356dup (p.Gly2120_Leu2121insMetGlnProGlnProGly)
NM_004380.3(CREBBP):c.6343A>G (p.Met2115Val)
NM_004380.3(CREBBP):c.6348_6383dup (p.Gly2132_Met2133insLeuGlnSerGlnProGlyMetGlnProGlnProGly)
NM_004380.3(CREBBP):c.6357T>G (p.Pro2119=)
NM_004380.3(CREBBP):c.6361_6396del (p.Leu2121_Gly2132del)
NM_004380.3(CREBBP):c.6372G>A (p.Gln2124=)
NM_004380.3(CREBBP):c.6376G>A (p.Gly2126Ser)
NM_004380.3(CREBBP):c.6376G>T (p.Gly2126Cys)
NM_004380.3(CREBBP):c.6378C>A (p.Gly2126=)
NM_004380.3(CREBBP):c.6384_6401del (p.Gln2128_Met2133del) rs772003652
NM_004380.3(CREBBP):c.6384_6401dup (p.Gln2128_Met2133dup) rs772003652
NM_004380.3(CREBBP):c.6390G>C (p.Gln2130His)
NM_004380.3(CREBBP):c.6391C>T (p.Pro2131Ser)
NM_004380.3(CREBBP):c.6398T>C (p.Met2133Thr)
NM_004380.3(CREBBP):c.6404delinsTGC (p.Gln2135fs) rs2051819669
NM_004380.3(CREBBP):c.6414C>G (p.Ser2138Arg)
NM_004380.3(CREBBP):c.6417G>A (p.Leu2139=)
NM_004380.3(CREBBP):c.6419A>G (p.Gln2140Arg)
NM_004380.3(CREBBP):c.6432C>T (p.Ala2144=)
NM_004380.3(CREBBP):c.6433A>T (p.Met2145Leu)
NM_004380.3(CREBBP):c.6445G>A (p.Val2149Met) rs147448293
NM_004380.3(CREBBP):c.6445G>T (p.Val2149Leu)
NM_004380.3(CREBBP):c.6449C>A (p.Pro2150Gln)
NM_004380.3(CREBBP):c.6451C>T (p.Arg2151Trp)
NM_004380.3(CREBBP):c.6453G>C (p.Arg2151=)
NM_004380.3(CREBBP):c.6456C>T (p.Pro2152=)
NM_004380.3(CREBBP):c.6457G>A (p.Gly2153Ser)
NM_004380.3(CREBBP):c.6458G>A (p.Gly2153Asp)
NM_004380.3(CREBBP):c.6466_6476del (p.Pro2156fs)
NM_004380.3(CREBBP):c.6478G>A (p.Ala2160Thr)
NM_004380.3(CREBBP):c.6480G>A (p.Ala2160=)
NM_004380.3(CREBBP):c.6480G>T (p.Ala2160=)
NM_004380.3(CREBBP):c.6510C>G (p.Ala2170=)
NM_004380.3(CREBBP):c.6510C>T (p.Ala2170=)
NM_004380.3(CREBBP):c.6517A>G (p.Ile2173Val)
NM_004380.3(CREBBP):c.652A>G (p.Arg218Gly)
NM_004380.3(CREBBP):c.6536A>C (p.Asn2179Thr)
NM_004380.3(CREBBP):c.6538C>T (p.Pro2180Ser)
NM_004380.3(CREBBP):c.6543C>A (p.Asn2181Lys)
NM_004380.3(CREBBP):c.6548C>T (p.Ala2183Val)
NM_004380.3(CREBBP):c.6585G>A (p.Arg2195=)
NM_004380.3(CREBBP):c.6594GCA[2] (p.Gln2214_Gln2216del) rs746121736
NM_004380.3(CREBBP):c.6594GCA[3] (p.Gln2215_Gln2216del) rs746121736
NM_004380.3(CREBBP):c.6594GCA[6] (p.Gln2216_Gly2217insGln)
NM_004380.3(CREBBP):c.6600GCAGCAGCAACA[1] (p.Gln2213_Gln2216del) rs750150018
NM_004380.3(CREBBP):c.6603G>A (p.Gln2201=)
NM_004380.3(CREBBP):c.6603_6620del (p.Gln2211_Gln2216del) rs2151302749
NM_004380.3(CREBBP):c.6612GCA[4] (p.Gln2216dup) rs779647460
NM_004380.3(CREBBP):c.6621ACA[1] (p.Gln2216del)
NM_004380.3(CREBBP):c.6621_6644del (p.Gln2209_Gln2216del) rs778507028
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His) rs142545779
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=) rs142545779
NM_004380.3(CREBBP):c.6624_6635del (p.Gln2213_Gln2216del) rs763108828
NM_004380.3(CREBBP):c.6625C>G (p.Gln2209Glu)
NM_004380.3(CREBBP):c.6633A>G (p.Gln2211=)
NM_004380.3(CREBBP):c.6633_6644dup (p.Gln2216_Gly2217insGlnGlnGlnGln)
NM_004380.3(CREBBP):c.6636GCA[5] (p.Gln2216_Gly2217insGln)
NM_004380.3(CREBBP):c.6646C>A (p.Gln2216Lys)
NM_004380.3(CREBBP):c.6657C>T (p.Ala2219=)
NM_004380.3(CREBBP):c.6664G>A (p.Ala2222Thr)
NM_004380.3(CREBBP):c.6668G>T (p.Gly2223Val)
NM_004380.3(CREBBP):c.6671G>C (p.Gly2224Ala)
NM_004380.3(CREBBP):c.6673A>C (p.Met2225Leu)
NM_004380.3(CREBBP):c.6673A>G (p.Met2225Val)
NM_004380.3(CREBBP):c.6680G>A (p.Gly2227Glu)
NM_004380.3(CREBBP):c.6693C>T (p.Phe2231=)
NM_004380.3(CREBBP):c.6725C>T (p.Pro2242Leu)
NM_004380.3(CREBBP):c.6726G>A (p.Pro2242=)
NM_004380.3(CREBBP):c.6730A>C (p.Met2244Leu)
NM_004380.3(CREBBP):c.6732G>A (p.Met2244Ile)
NM_004380.3(CREBBP):c.6734AGC[3] (p.Gln2248del)
NM_004380.3(CREBBP):c.6734AGC[5] (p.Gln2248dup) rs753283086
NM_004380.3(CREBBP):c.6745C>T (p.Arg2249Cys)
NM_004380.3(CREBBP):c.6763C>T (p.Pro2255Ser)
NM_004380.3(CREBBP):c.6764C>T (p.Pro2255Leu) rs1191357764
NM_004380.3(CREBBP):c.6765C>G (p.Pro2255=)
NM_004380.3(CREBBP):c.6777C>T (p.Ser2259=)
NM_004380.3(CREBBP):c.6786C>T (p.Gly2262=)
NM_004380.3(CREBBP):c.6789G>C (p.Gln2263His)
NM_004380.3(CREBBP):c.6794C>T (p.Ala2265Val)
NM_004380.3(CREBBP):c.6820A>G (p.Met2274Val) rs1306100144
NM_004380.3(CREBBP):c.6829C>T (p.Pro2277Ser)
NM_004380.3(CREBBP):c.6831G>A (p.Pro2277=)
NM_004380.3(CREBBP):c.6834G>A (p.Gly2278=) rs372866305
NM_004380.3(CREBBP):c.6839G>A (p.Gly2280Glu) rs781438241
NM_004380.3(CREBBP):c.6855C>G (p.Pro2285=)
NM_004380.3(CREBBP):c.685C>T (p.Pro229Ser)
NM_004380.3(CREBBP):c.6864G>A (p.Gln2288=)
NM_004380.3(CREBBP):c.6871C>G (p.Leu2291Val)
NM_004380.3(CREBBP):c.6886C>T (p.Leu2296=)
NM_004380.3(CREBBP):c.6909_6910delinsTA (p.Gln2303_Gln2304delinsHisLys)
NM_004380.3(CREBBP):c.6930G>T (p.Gln2310His)
NM_004380.3(CREBBP):c.6932C>T (p.Pro2311Leu)
NM_004380.3(CREBBP):c.6933G>A (p.Pro2311=)
NM_004380.3(CREBBP):c.6959T>C (p.Met2320Thr)
NM_004380.3(CREBBP):c.695A>G (p.Gln232Arg) rs2054805900
NM_004380.3(CREBBP):c.6969A>G (p.Gly2323=)
NM_004380.3(CREBBP):c.6972G>A (p.Gln2324=)
NM_004380.3(CREBBP):c.6983C>T (p.Ser2328Leu)
NM_004380.3(CREBBP):c.6997C>A (p.Gln2333Lys)
NM_004380.3(CREBBP):c.7005C>T (p.Ile2335=)
NM_004380.3(CREBBP):c.7006G>A (p.Ala2336Thr)
NM_004380.3(CREBBP):c.700G>A (p.Ala234Thr)
NM_004380.3(CREBBP):c.7011G>C (p.Thr2337=)
NM_004380.3(CREBBP):c.7023C>G (p.Asn2341Lys)
NM_004380.3(CREBBP):c.702C>T (p.Ala234=)
NM_004380.3(CREBBP):c.7030C>T (p.Arg2344Trp)
NM_004380.3(CREBBP):c.7041C>T (p.Ala2347=)
NM_004380.3(CREBBP):c.7058_7078del (p.Arg2353_Pro2359del) rs766383937
NM_004380.3(CREBBP):c.7062C>T (p.Pro2354=)
NM_004380.3(CREBBP):c.70G>A (p.Ala24Thr)
NM_004380.3(CREBBP):c.7106C>T (p.Pro2369Leu)
NM_004380.3(CREBBP):c.7107C>G (p.Pro2369=)
NM_004380.3(CREBBP):c.7111C>A (p.Pro2371Thr)
NM_004380.3(CREBBP):c.7123C>T (p.His2375Tyr)
NM_004380.3(CREBBP):c.712G>A (p.Val238Met) rs146887252
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu) rs146887252
NM_004380.3(CREBBP):c.7136A>C (p.Gln2379Pro)
NM_004380.3(CREBBP):c.7146C>T (p.Ser2382=)
NM_004380.3(CREBBP):c.7149C>A (p.Pro2383=)
NM_004380.3(CREBBP):c.7155C>T (p.Pro2385=) rs763948946
NM_004380.3(CREBBP):c.7161C>G (p.Leu2387=)
NM_004380.3(CREBBP):c.7182C>T (p.Ser2394=) rs934317603
NM_004380.3(CREBBP):c.7195C>T (p.His2399Tyr)
NM_004380.3(CREBBP):c.7198T>C (p.Leu2400=)
NM_004380.3(CREBBP):c.7203G>T (p.Gly2401=)
NM_004380.3(CREBBP):c.7207C>G (p.Pro2403Ala)
NM_004380.3(CREBBP):c.7209C>T (p.Pro2403=)
NM_004380.3(CREBBP):c.7210G>A (p.Glu2404Lys) rs863223334
NM_004380.3(CREBBP):c.721G>A (p.Glu241Lys)
NM_004380.3(CREBBP):c.7243C>T (p.Pro2415Ser)
NM_004380.3(CREBBP):c.7245C>T (p.Pro2415=) rs1555470758
NM_004380.3(CREBBP):c.7255G>A (p.Ala2419Thr)
NM_004380.3(CREBBP):c.7256C>T (p.Ala2419Val)
NM_004380.3(CREBBP):c.7257G>A (p.Ala2419=)
NM_004380.3(CREBBP):c.725C>A (p.Thr242Asn)
NM_004380.3(CREBBP):c.7266C>G (p.Ser2422Arg)
NM_004380.3(CREBBP):c.726C>G (p.Thr242=)
NM_004380.3(CREBBP):c.7281C>T (p.Val2427=)
NM_004380.3(CREBBP):c.7290_7301dup (p.Thr2434_Leu2435insThrGlyAspThr)
NM_004380.3(CREBBP):c.7292C>T (p.Thr2431Met)
NM_004380.3(CREBBP):c.7300A>G (p.Thr2434Ala)
NM_004380.3(CREBBP):c.731C>T (p.Thr244Met)
NM_004380.3(CREBBP):c.7326G>A (p.Leu2442=)
NM_004380.3(CREBBP):c.732G>A (p.Thr244=)
NM_004380.3(CREBBP):c.733C>T (p.Gln245Ter)
NM_004380.3(CREBBP):c.739T>C (p.Ser247Pro)
NM_004380.3(CREBBP):c.749T>C (p.Met250Thr)
NM_004380.3(CREBBP):c.753T>G (p.Thr251=) rs142403441
NM_004380.3(CREBBP):c.756T>C (p.Gly252=)
NM_004380.3(CREBBP):c.760G>T (p.Ala254Ser)
NM_004380.3(CREBBP):c.761C>T (p.Ala254Val)
NM_004380.3(CREBBP):c.761_767del (p.Ala254fs)
NM_004380.3(CREBBP):c.772A>G (p.Thr258Ala) rs1597053070
NM_004380.3(CREBBP):c.774C>T (p.Thr258=)
NM_004380.3(CREBBP):c.775G>T (p.Ala259Ser)
NM_004380.3(CREBBP):c.778C>A (p.Gln260Lys)
NM_004380.3(CREBBP):c.782C>T (p.Ala261Val)
NM_004380.3(CREBBP):c.796A>G (p.Lys266Glu)
NM_004380.3(CREBBP):c.799-18A>T
NM_004380.3(CREBBP):c.799-19del rs2141347625
NM_004380.3(CREBBP):c.799A>G (p.Met267Val)
NM_004380.3(CREBBP):c.799A>T (p.Met267Leu)
NM_004380.3(CREBBP):c.802G>T (p.Gly268Ter) rs2053923868
NM_004380.3(CREBBP):c.805A>G (p.Ile269Val)
NM_004380.3(CREBBP):c.810T>C (p.Thr270=)
NM_004380.3(CREBBP):c.828_840del (p.Phe276fs)
NM_004380.3(CREBBP):c.85+11G>A
NM_004380.3(CREBBP):c.85+13_85+28del
NM_004380.3(CREBBP):c.85+14C>T
NM_004380.3(CREBBP):c.85+2T>G
NM_004380.3(CREBBP):c.85+7_85+13del
NM_004380.3(CREBBP):c.858G>A (p.Gln286=)
NM_004380.3(CREBBP):c.86-20C>A
NM_004380.3(CREBBP):c.862A>G (p.Met288Val)
NM_004380.3(CREBBP):c.874G>A (p.Gly292Arg)
NM_004380.3(CREBBP):c.875G>T (p.Gly292Val)
NM_004380.3(CREBBP):c.882C>A (p.Asn294Lys)
NM_004380.3(CREBBP):c.907A>G (p.Met303Val) rs1567331335
NM_004380.3(CREBBP):c.927C>G (p.Thr309=) rs575297081
NM_004380.3(CREBBP):c.934A>G (p.Thr312Ala)
NM_004380.3(CREBBP):c.941T>C (p.Ile314Thr)
NM_004380.3(CREBBP):c.942C>G (p.Ile314Met)
NM_004380.3(CREBBP):c.955G>A (p.Val319Ile)
NM_004380.3(CREBBP):c.959C>G (p.Thr320Ser)
NM_004380.3(CREBBP):c.966G>A (p.Val322=)
NM_004380.3(CREBBP):c.975+3A>G
NM_004380.3(CREBBP):c.975+9C>A
NM_004380.3(CREBBP):c.976-12G>T
NM_004380.3(CREBBP):c.976-20A>G
NM_004380.3(CREBBP):c.976-4T>G
NM_004380.3(CREBBP):c.976-6T>C
NM_004380.3(CREBBP):c.987A>G (p.Gln329=) rs778596455
NM_004380.3(CREBBP):c.993A>C (p.Ser331=)

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