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.4453-23T>C
|
rs2076577
|
0.51146
|
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.*745del
|
rs532524940
|
0.00291
|
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.5747T>C (p.Met1916Thr)
|
rs559294915
|
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.1672A>G (p.Thr558Ala)
|
rs1057519397
|
0.00004
|
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.2505G>T (p.Met835Ile)
|
rs759041100
|
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.2241G>A (p.Pro747=)
|
rs759604286
|
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.7082A>G (p.Gln2361Arg)
|
rs1263635747
|
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.2860G>A (p.Ala954Thr)
|
rs373284909
|
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.6437C>A (p.Pro2146His)
|
rs745528077
|
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.7162G>A (p.Ala2388Thr)
|
rs756011865
|
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.1303G>A (p.Val435Ile)
|
rs779573838
|
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.363G>C (p.Met121Ile)
|
rs757476470
|
0.00001
|
NM_001429.4(EP300):c.3875-8A>C
|
rs747796024
|
0.00001
|
NM_001429.4(EP300):c.3884C>G (p.Ser1295Cys)
|
rs772897576
|
0.00001
|
NM_001429.4(EP300):c.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.1585A>G (p.Met529Val)
|
rs747187975
|
0.00001
|
NM_004380.3(CREBBP):c.1627C>G (p.Pro543Ala)
|
rs947001316
|
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.3485A>G (p.Asn1162Ser)
|
rs148166625
|
0.00001
|
NM_004380.3(CREBBP):c.3576C>G (p.Val1192=)
|
rs775872294
|
0.00001
|
NM_004380.3(CREBBP):c.3641A>G (p.Tyr1214Cys)
|
rs1272691121
|
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.3893A>G (p.Tyr1298Cys)
|
rs773159964
|
0.00001
|
NM_004380.3(CREBBP):c.3929A>G (p.Asn1310Ser)
|
rs558051943
|
0.00001
|
NM_004380.3(CREBBP):c.4121G>C (p.Gly1374Ala)
|
rs2052174869
|
0.00001
|
NM_004380.3(CREBBP):c.4344C>T (p.Ala1448=)
|
rs777425519
|
0.00001
|
NM_004380.3(CREBBP):c.437C>T (p.Ala146Val)
|
rs1295662710
|
0.00001
|
NM_004380.3(CREBBP):c.4709C>T (p.Ala1570Val)
|
rs1186493453
|
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.6550A>G (p.Ser2184Gly)
|
rs398124149
|
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
|
GRCh37/hg19 16p13.11(chr16:15154115-16276115)
|
|
|
GRCh37/hg19 16p13.3(chr16:3794894-3795355)
|
|
|
GRCh38/hg38 16p13.3(chr16:3727580-3851110)x1
|
|
|
GRCh38/hg38 16p13.3(chr16:3818098-3858843)x1
|
|
|
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.(41537227_41542742)_(41560135_41562602)dup
|
|
|
NC_000022.10:g.(?_41074407)_(41489122_?)del
|
|
|
NC_000022.10:g.(?_41553153)_(41554524_?)del
|
|
|
NC_000022.11:g.(?_41092585)_(41093099_41117186)del
|
|
|
NC_000022.11:g.(?_41131368)_(41140277_?)del
|
|
|
NC_000022.11:g.(?_41151813)_(41152370_?)del
|
|
|
NC_000022.11:g.(?_41154975)_(41164150_?)del
|
|
|
NG_009873.1:g.(?_5000)_(160068_?)del
|
|
|
NM_001429.3(EP300):c.3857A>G
|
rs1555910821
|
|
NM_001429.3:c.4271_4367del
|
|
|
NM_001429.4(EP300):c.*1083_*1085del
|
rs561433394
|
|
NM_001429.4(EP300):c.*340dup
|
rs561569141
|
|
NM_001429.4(EP300):c.*40_*44del
|
rs751376755
|
|
NM_001429.4(EP300):c.*591_*592dup
|
rs60283061
|
|
NM_001429.4(EP300):c.*592del
|
rs60283061
|
|
NM_001429.4(EP300):c.*592dup
|
rs60283061
|
|
NM_001429.4(EP300):c.*785_*786del
|
rs886057577
|
|
NM_001429.4(EP300):c.*921dup
|
rs1161532977
|
|
NM_001429.4(EP300):c.*922_*930delinsC
|
rs1555912614
|
|
NM_001429.4(EP300):c.*922_*930delinsCCC
|
rs1555912614
|
|
NM_001429.4(EP300):c.*922_*932delinsC
|
rs886057580
|
|
NM_001429.4(EP300):c.*922_*932delinsCCC
|
rs886057580
|
|
NM_001429.4(EP300):c.*922_*938delinsC
|
rs886057581
|
|
NM_001429.4(EP300):c.*922_*942delinsC
|
rs1555912616
|
|
NM_001429.4(EP300):c.*922_*942delinsCC
|
rs1555912616
|
|
NM_001429.4(EP300):c.*926AC[18]
|
rs59721178
|
|
NM_001429.4(EP300):c.*926AC[20]
|
rs59721178
|
|
NM_001429.4(EP300):c.*926AC[22]
|
rs59721178
|
|
NM_001429.4(EP300):c.*926AC[23]
|
rs59721178
|
|
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.108_111del (p.Phe37fs)
|
|
|
NM_001429.4(EP300):c.1113A>G (p.Thr371=)
|
|
|
NM_001429.4(EP300):c.1128A>G (p.Leu376=)
|
|
|
NM_001429.4(EP300):c.1143C>G (p.His381Gln)
|
rs2145710465
|
|
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.1423dup (p.Tyr475fs)
|
rs2145715677
|
|
NM_001429.4(EP300):c.1443_1444delinsAC (p.Thr482Pro)
|
|
|
NM_001429.4(EP300):c.1448A>T (p.Gln483Leu)
|
rs2058919614
|
|
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.1516A>G (p.Met506Val)
|
rs886057556
|
|
NM_001429.4(EP300):c.151A>G (p.Thr51Ala)
|
|
|
NM_001429.4(EP300):c.1528+17C>G
|
|
|
NM_001429.4(EP300):c.1528+3_1528+10del
|
|
|
NM_001429.4(EP300):c.1529-12A>G
|
|
|
NM_001429.4(EP300):c.1529-19T>G
|
|
|
NM_001429.4(EP300):c.1529-8T>C
|
rs587783621
|
|
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.1606_1610delinsTATGTTGAGCCATAACTGCATGTTGAGCCCA (p.Ala536_Ile537delinsTyrValGluProTer)
|
rs1601610306
|
|
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.1709_1710del (p.Gln570fs)
|
|
|
NM_001429.4(EP300):c.170A>G (p.Asn57Ser)
|
|
|
NM_001429.4(EP300):c.1729del (p.Gln577fs)
|
|
|
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter)
|
rs137853038
|
|
NM_001429.4(EP300):c.1760+11T>C
|
|
|
NM_001429.4(EP300):c.1760+6_1760+9del
|
rs2145722830
|
|
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.1861G>A (p.Glu621Lys)
|
rs778829658
|
|
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.1942C>T (p.Arg648Ter)
|
rs137853039
|
|
NM_001429.4(EP300):c.1957C>T (p.Gln653Ter)
|
rs1601613391
|
|
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.2064dup (p.Pro689fs)
|
rs1601617062
|
|
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.2132-1G>A
|
rs2145734002
|
|
NM_001429.4(EP300):c.2132-8A>T
|
|
|
NM_001429.4(EP300):c.2164dup (p.Gln722fs)
|
rs879253873
|
|
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.2225del (p.Pro742fs)
|
rs2059021664
|
|
NM_001429.4(EP300):c.2242-15T>G
|
|
|
NM_001429.4(EP300):c.2242-17T>G
|
|
|
NM_001429.4(EP300):c.2242-6_2242-4del
|
rs747710183
|
|
NM_001429.4(EP300):c.2242-7T>C
|
|
|
NM_001429.4(EP300):c.2251_2257del (p.Tyr751fs)
|
rs1601618876
|
|
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.2333dup (p.Asn779fs)
|
rs2145736063
|
|
NM_001429.4(EP300):c.2380-19_2380-15del
|
|
|
NM_001429.4(EP300):c.2398T>G (p.Ser800Ala)
|
|
|
NM_001429.4(EP300):c.2461_2470del (p.Gln821fs)
|
|
|
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.2660C>T (p.Thr887Ile)
|
rs953108559
|
|
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.2734C>T (p.Gln912Ter)
|
|
|
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.2877_2884del (p.Thr960fs)
|
rs1569108381
|
|
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.2893C>T (p.Gln965Ter)
|
|
|
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.2960C>T (p.Pro987Leu)
|
rs2145740050
|
|
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.2998-3_2998-2del
|
rs2145740556
|
|
NM_001429.4(EP300):c.2998-3del
|
rs528974321
|
|
NM_001429.4(EP300):c.3014_3015del (p.Asp1004_Cys1005insTer)
|
rs2059050320
|
|
NM_001429.4(EP300):c.301G>A (p.Gly101Ser)
|
rs762557708
|
|
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.3067del (p.Glu1022_Ile1023insTer)
|
rs2059050708
|
|
NM_001429.4(EP300):c.3070_3071insT (p.Lys1024fs)
|
rs1601621506
|
|
NM_001429.4(EP300):c.3070_3074del (p.Lys1024fs)
|
rs1555909697
|
|
NM_001429.4(EP300):c.3084C>A (p.Asp1028Glu)
|
|
|
NM_001429.4(EP300):c.3098C>T (p.Ser1033Leu)
|
|
|
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.3135_3138del (p.Lys1046fs)
|
rs2059051273
|
|
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.3163C>T (p.Arg1055Ter)
|
rs886041830
|
|
NM_001429.4(EP300):c.3166C>T (p.Gln1056Ter)
|
rs1601623271
|
|
NM_001429.4(EP300):c.3178C>T (p.Pro1060Ser)
|
rs2059069019
|
|
NM_001429.4(EP300):c.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.3262-2A>G
|
rs1555910114
|
|
NM_001429.4(EP300):c.3282G>A (p.Lys1094=)
|
|
|
NM_001429.4(EP300):c.3310A>G (p.Arg1104Gly)
|
|
|
NM_001429.4(EP300):c.332G>A (p.Ser111Asn)
|
rs2145696782
|
|
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.3367del (p.Met1124fs)
|
rs1601624722
|
|
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.3438_3439del (p.Glu1147fs)
|
rs1601624754
|
|
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.3485dup (p.Tyr1162Ter)
|
rs1601624790
|
|
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.3573T>A (p.Tyr1191Ter)
|
rs565779970
|
|
NM_001429.4(EP300):c.3589A>T (p.Arg1197Trp)
|
rs1340981566
|
|
NM_001429.4(EP300):c.3590+4A>T
|
|
|
NM_001429.4(EP300):c.3592T>C (p.Tyr1198His)
|
rs1305375514
|
|
NM_001429.4(EP300):c.3624C>A (p.Ile1208=)
|
rs143660871
|
|
NM_001429.4(EP300):c.3624C>G (p.Ile1208Met)
|
rs143660871
|
|
NM_001429.4(EP300):c.3624C>T (p.Ile1208=)
|
rs143660871
|
|
NM_001429.4(EP300):c.3625C>G (p.Gln1209Glu)
|
|
|
NM_001429.4(EP300):c.3636C>T (p.Ser1212=)
|
|
|
NM_001429.4(EP300):c.3659C>G (p.Ser1220Cys)
|
|
|
NM_001429.4(EP300):c.3665C>A (p.Pro1222His)
|
rs7285319
|
|
NM_001429.4(EP300):c.3671+16A>C
|
|
|
NM_001429.4(EP300):c.3671+1G>A
|
rs2059103511
|
|
NM_001429.4(EP300):c.3671+5G>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+5G>C
|
rs1114167305
|
|
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.3731TTG[1] (p.Val1245del)
|
rs1555910602
|
|
NM_001429.4(EP300):c.3733del (p.Val1245fs)
|
|
|
NM_001429.4(EP300):c.3746A>G (p.Glu1249Gly)
|
|
|
NM_001429.4(EP300):c.3749G>A (p.Cys1250Tyr)
|
rs1601629319
|
|
NM_001429.4(EP300):c.3750C>G (p.Cys1250Trp)
|
rs747187417
|
|
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.3826_3827dup (p.Leu1276fs)
|
rs2145759333
|
|
NM_001429.4(EP300):c.3827T>C (p.Leu1276Ser)
|
|
|
NM_001429.4(EP300):c.3838G>T (p.Ala1280Ser)
|
rs2059136013
|
|
NM_001429.4(EP300):c.383A>T (p.Gln128Leu)
|
|
|
NM_001429.4(EP300):c.3858_3859dup (p.Lys1287fs)
|
|
|
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.3893T>G (p.Leu1298Arg)
|
rs2145762737
|
|
NM_001429.4(EP300):c.3905dup (p.Glu1303fs)
|
rs2059152743
|
|
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.4173G>C (p.Arg1391Ser)
|
rs1464734494
|
|
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.4232C>T (p.Thr1411Ile)
|
rs1601633708
|
|
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.4318C>A (p.Pro1440Thr)
|
|
|
NM_001429.4(EP300):c.4331A>G (p.Asp1444Gly)
|
rs1569117388
|
|
NM_001429.4(EP300):c.4340T>G (p.Ile1447Ser)
|
rs2145766562
|
|
NM_001429.4(EP300):c.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.4363C>T (p.Gln1455Ter)
|
rs1555911313
|
|
NM_001429.4(EP300):c.4371_4376del (p.Ile1457_Lys1459delinsMet)
|
rs1555911316
|
|
NM_001429.4(EP300):c.4377G>A (p.Lys1459=)
|
|
|
NM_001429.4(EP300):c.437G>A (p.Gly146Asp)
|
|
|
NM_001429.4(EP300):c.4390C>T (p.Gln1464Ter)
|
rs1601634247
|
|
NM_001429.4(EP300):c.442A>G (p.Thr148Ala)
|
|
|
NM_001429.4(EP300):c.4433G>A (p.Arg1478His)
|
|
|
NM_001429.4(EP300):c.4438G>A (p.Val1480Ile)
|
|
|
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.4452+5G>T
|
rs1555911334
|
|
NM_001429.4(EP300):c.4453-6T>C
|
|
|
NM_001429.4(EP300):c.4453G>T (p.Asp1485Tyr)
|
rs2145769934
|
|
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.4511T>G (p.Phe1504Cys)
|
rs1114167306
|
|
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.4532A>T (p.Asn1511Ile)
|
|
|
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.4692dup (p.Arg1565Ter)
|
rs1601636935
|
|
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.4836dup (p.Val1613fs)
|
rs797045559
|
|
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.494_497del (p.Met165fs)
|
rs1601598354
|
|
NM_001429.4(EP300):c.4954_4957dup (p.Cys1653fs)
|
rs1555912040
|
|
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.5092A>T (p.Thr1698Ser)
|
rs549834848
|
|
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.5245C>T (p.Arg1749Trp)
|
rs2145515250
|
|
NM_001429.4(EP300):c.5249A>G (p.Asn1750Ser)
|
rs2145515265
|
|
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.5486G>C (p.Arg1829Pro)
|
rs2145516079
|
|
NM_001429.4(EP300):c.5492G>C (p.Arg1831Thr)
|
rs1601639958
|
|
NM_001429.4(EP300):c.5493G>A (p.Arg1831=)
|
|
|
NM_001429.4(EP300):c.5493G>C (p.Arg1831Ser)
|
rs1379274045
|
|
NM_001429.4(EP300):c.5510G>A (p.Arg1837Gln)
|
rs755471385
|
|
NM_001429.4(EP300):c.5519T>G (p.Val1840Gly)
|
|
|
NM_001429.4(EP300):c.5527dup (p.Gln1843fs)
|
|
|
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.5578_5584del (p.Gly1860fs)
|
rs1601640102
|
|
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.5688_5689del (p.Ser1897fs)
|
|
|
NM_001429.4(EP300):c.5713G>A (p.Val1905Met)
|
|
|
NM_001429.4(EP300):c.5719C>T (p.Pro1907Ser)
|
|
|
NM_001429.4(EP300):c.5723dup (p.Thr1909fs)
|
rs1555912182
|
|
NM_001429.4(EP300):c.5727C>T (p.Thr1909=)
|
|
|
NM_001429.4(EP300):c.5729CTC[1] (p.Pro1911del)
|
|
|
NM_001429.4(EP300):c.5747dup (p.Pro1917fs)
|
rs1601640370
|
|
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.5839A>G (p.Ile1947Val)
|
rs977251718
|
|
NM_001429.4(EP300):c.5840_5848del (p.Ile1947_Gln1949del)
|
rs1171171784
|
|
NM_001429.4(EP300):c.584C>A (p.Ser195Ter)
|
rs2058829252
|
|
NM_001429.4(EP300):c.5854A>G (p.Ile1952Val)
|
|
|
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.5894dup (p.Met1965fs)
|
|
|
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.5961_5962del (p.Gly1988fs)
|
|
|
NM_001429.4(EP300):c.5979A>G (p.Pro1993=)
|
|
|
NM_001429.4(EP300):c.598C>T (p.Arg200Ter)
|
rs769721953
|
|
NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser)
|
rs1210404526
|
|
NM_001429.4(EP300):c.6015A>G (p.Gln2005=)
|
|
|
NM_001429.4(EP300):c.6015_6028del (p.Gln2005fs)
|
rs2059210417
|
|
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.6101del (p.Gly2034fs)
|
rs2145519321
|
|
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.6121_6124del (p.Leu2041fs)
|
rs2059211409
|
|
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.6196C>T (p.Gln2066Ter)
|
rs1555912238
|
|
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.6323del (p.Gln2108fs)
|
|
|
NM_001429.4(EP300):c.6350C>T (p.Thr2117Ile)
|
rs2059213237
|
|
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.638del (p.Gly213fs)
|
rs1569090642
|
|
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.6454C>T (p.Gln2152Ter)
|
|
|
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.6607C>G (p.Pro2203Ala)
|
rs1358846937
|
|
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.6691del (p.Met2231fs)
|
rs1601641819
|
|
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.6815C>T (p.Pro2272Leu)
|
rs1386526100
|
|
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.6915_6918del (p.Asn2305fs)
|
rs797045560
|
|
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.7014_7028del (p.His2338_Pro2342del)
|
rs1601642386
|
|
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.70_71del (p.Ser24fs)
|
rs1555902247
|
|
NM_001429.4(EP300):c.7100del (p.Pro2367fs)
|
rs1569122847
|
|
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.7220C>T (p.Ser2407Leu)
|
rs1424813619
|
|
NM_001429.4(EP300):c.7221A>G (p.Ser2407=)
|
rs964396023
|
|
NM_001429.4(EP300):c.7222_7223del (p.Gln2408fs)
|
rs1057519375
|
|
NM_001429.4(EP300):c.7225A>C (p.Ser2409Arg)
|
rs748325077
|
|
NM_001429.4(EP300):c.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.7244A>G (p.Ter2415Trp)
|
rs1601642812
|
|
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.749C>G (p.Pro250Arg)
|
rs2058879222
|
|
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.769_786del (p.Tyr257_Gly262del)
|
rs876661318
|
|
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_001429.4:c.730_1760del
|
|
|
NM_004380.2(CREBBP):c.(?_-23)_85+?del
|
|
|
NM_004380.2(CREBBP):c.[4112T>A;4118C>A]
|
|
|
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.1044del (p.Glu349fs)
|
rs1596948052
|
|
NM_004380.3(CREBBP):c.1062dup (p.Gln355fs)
|
rs1567318022
|
|
NM_004380.3(CREBBP):c.1063C>T (p.Gln355Ter)
|
rs587783460
|
|
NM_004380.3(CREBBP):c.1068del (p.Gln356fs)
|
|
|
NM_004380.3(CREBBP):c.1069C>T (p.Gln357Ter)
|
rs121434625
|
|
NM_004380.3(CREBBP):c.1090G>C (p.Ala364Pro)
|
|
|
NM_004380.3(CREBBP):c.1092T>C (p.Ala364=)
|
|
|
NM_004380.3(CREBBP):c.1094A>C (p.His365Pro)
|
|
|
NM_004380.3(CREBBP):c.1095T>C (p.His365=)
|
rs565069106
|
|
NM_004380.3(CREBBP):c.1104G>A (p.Gln368=)
|
|
|
NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter)
|
rs1384496494
|
|
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.1124del (p.Gly375fs)
|
rs1596947743
|
|
NM_004380.3(CREBBP):c.1127_1128dup (p.Val377fs)
|
rs1596947732
|
|
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.1156C>T (p.Arg386Ter)
|
rs587783461
|
|
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.1213C>G (p.Gln405Glu)
|
rs2053544204
|
|
NM_004380.3(CREBBP):c.1216+2T>A
|
rs1596947522
|
|
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.1225_1231del (p.Cys409fs)
|
rs1596944340
|
|
NM_004380.3(CREBBP):c.1233T>C (p.Ser411=)
|
|
|
NM_004380.3(CREBBP):c.1237C>T (p.Arg413Ter)
|
rs1302427305
|
|
NM_004380.3(CREBBP):c.1257G>A (p.Trp419Ter)
|
rs587783463
|
|
NM_004380.3(CREBBP):c.1270C>T (p.Arg424Ter)
|
rs587783464
|
|
NM_004380.3(CREBBP):c.1280_1281del (p.Cys427fs)
|
rs1567316655
|
|
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.1483C>T (p.Gln495Ter)
|
rs1596920745
|
|
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.1562_1563del (p.Leu521fs)
|
rs1567309482
|
|
NM_004380.3(CREBBP):c.1565A>G (p.Asn522Ser)
|
|
|
NM_004380.3(CREBBP):c.1566C>T (p.Asn522=)
|
|
|
NM_004380.3(CREBBP):c.1573+1G>A
|
rs1596920360
|
|
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.1590del (p.Asn530fs)
|
rs587783465
|
|
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.1646C>G (p.Ser549Ter)
|
rs1596917200
|
|
NM_004380.3(CREBBP):c.1655C>A (p.Pro552Gln)
|
|
|
NM_004380.3(CREBBP):c.1655C>T (p.Pro552Leu)
|
|
|
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+2_1676+5del
|
rs2141247044
|
|
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.1694del (p.Gly565fs)
|
rs1596916327
|
|
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.173_185del (p.Asn58fs)
|
rs1597054837
|
|
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.1776G>C (p.Trp592Cys)
|
|
|
NM_004380.3(CREBBP):c.1779C>T (p.His593=)
|
|
|
NM_004380.3(CREBBP):c.1801C>T (p.Arg601Trp)
|
rs1354934373
|
|
NM_004380.3(CREBBP):c.181C>A (p.Pro61Thr)
|
|
|
NM_004380.3(CREBBP):c.1821del (p.Lys607fs)
|
rs587783467
|
|
NM_004380.3(CREBBP):c.1823T>C (p.Leu608Pro)
|
rs2053254528
|
|
NM_004380.3(CREBBP):c.1824-19_1824-16del
|
|
|
NM_004380.3(CREBBP):c.1824-1G>A
|
rs1596910004
|
|
NM_004380.3(CREBBP):c.1824-1G>C
|
|
|
NM_004380.3(CREBBP):c.1853C>G (p.Pro618Arg)
|
|
|
NM_004380.3(CREBBP):c.1855dup (p.Ala619fs)
|
rs1596909915
|
|
NM_004380.3(CREBBP):c.1867_1874del (p.Asp623fs)
|
|
|
NM_004380.3(CREBBP):c.189T>C (p.Ala63=)
|
|
|
NM_004380.3(CREBBP):c.189del (p.Ala64fs)
|
|
|
NM_004380.3(CREBBP):c.1907_1912del (p.Val636_Glu637del)
|
rs1596909791
|
|
NM_004380.3(CREBBP):c.1911del (p.Asp639fs)
|
rs2141237372
|
|
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.1930G>C (p.Ala644Pro)
|
rs2141237064
|
|
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+1G>T
|
rs1555483834
|
|
NM_004380.3(CREBBP):c.1941+2T>C
|
rs1596909656
|
|
NM_004380.3(CREBBP):c.1941+4G>C
|
|
|
NM_004380.3(CREBBP):c.1941+5G>A
|
rs2053202354
|
|
NM_004380.3(CREBBP):c.1941+8G>A
|
rs761673254
|
|
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.1955A>C (p.His652Pro)
|
rs587783468
|
|
NM_004380.3(CREBBP):c.1977C>A (p.Tyr659Ter)
|
rs2053190428
|
|
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.2026del (p.Gln676fs)
|
rs587783469
|
|
NM_004380.3(CREBBP):c.2031C>T (p.Gly677=)
|
|
|
NM_004380.3(CREBBP):c.2031del (p.Ile678fs)
|
rs1555483716
|
|
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+1G>C
|
|
|
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.2122_2123del (p.Leu708fs)
|
rs587783470
|
|
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.2159-1G>T
|
rs1596897799
|
|
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.2178dup (p.Met727fs)
|
rs797045483
|
|
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.2314C>A (p.Pro772Thr)
|
rs1555482779
|
|
NM_004380.3(CREBBP):c.2322del (p.Asn774fs)
|
rs1596895545
|
|
NM_004380.3(CREBBP):c.2323A>G (p.Met775Val)
|
rs990281677
|
|
NM_004380.3(CREBBP):c.2330del (p.Gly777fs)
|
rs1596895500
|
|
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.2383_2400dup (p.Pro795_Pro800dup)
|
rs1596895167
|
|
NM_004380.3(CREBBP):c.2388G>A (p.Gln796=)
|
|
|
NM_004380.3(CREBBP):c.239C>G (p.Ser80Cys)
|
rs1318683084
|
|
NM_004380.3(CREBBP):c.2415G>C (p.Ala805=)
|
|
|
NM_004380.3(CREBBP):c.2417T>A (p.Met806Lys)
|
rs1596895058
|
|
NM_004380.3(CREBBP):c.2417T>C (p.Met806Thr)
|
rs1596895058
|
|
NM_004380.3(CREBBP):c.2417T>G (p.Met806Arg)
|
rs1596895058
|
|
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr)
|
rs750178517
|
|
NM_004380.3(CREBBP):c.2436_2437insGCTG (p.Pro813fs)
|
rs2141214738
|
|
NM_004380.3(CREBBP):c.243_244insTA (p.Ile82Ter)
|
rs1597054662
|
|
NM_004380.3(CREBBP):c.2441C>G (p.Pro814Arg)
|
|
|
NM_004380.3(CREBBP):c.2450C>T (p.Thr817Ile)
|
|
|
NM_004380.3(CREBBP):c.2456dup (p.Ser820fs)
|
rs1596894889
|
|
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.2505G>A (p.Met835Ile)
|
rs759041100
|
|
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.2530C>T (p.Pro844Ser)
|
rs2052990480
|
|
NM_004380.3(CREBBP):c.2535C>A (p.Cys845Ter)
|
rs587783471
|
|
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.2606T>C (p.Leu869Pro)
|
rs587783472
|
|
NM_004380.3(CREBBP):c.2606_2607del (p.Leu869fs)
|
rs587783473
|
|
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.2679_2690delinsCC (p.Ser894fs)
|
rs797045484
|
|
NM_004380.3(CREBBP):c.2697C>T (p.Pro899=)
|
rs747968181
|
|
NM_004380.3(CREBBP):c.2701C>T (p.Pro901Ser)
|
|
|
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.2713_2719del (p.Ser905fs)
|
rs1596886295
|
|
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.2773C>T (p.Gln925Ter)
|
rs1596886132
|
|
NM_004380.3(CREBBP):c.2778G>T (p.Val926=)
|
|
|
NM_004380.3(CREBBP):c.2783C>T (p.Pro928Leu)
|
|
|
NM_004380.3(CREBBP):c.2787dup (p.Pro930fs)
|
rs1596886048
|
|
NM_004380.3(CREBBP):c.2788C>T (p.Pro930Ser)
|
|
|
NM_004380.3(CREBBP):c.278G>A (p.Ser93Asn)
|
|
|
NM_004380.3(CREBBP):c.2791C>T (p.Gln931Ter)
|
rs587783475
|
|
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.2810dup (p.Ser938fs)
|
rs797045485
|
|
NM_004380.3(CREBBP):c.2817_2818delinsT (p.Ala940fs)
|
rs1596885894
|
|
NM_004380.3(CREBBP):c.2828A>G (p.Gln943Arg)
|
|
|
NM_004380.3(CREBBP):c.282C>T (p.Pro94=)
|
|
|
NM_004380.3(CREBBP):c.282dup (p.Val95fs)
|
rs797045486
|
|
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.2854_2863dup (p.Gln955fs)
|
rs1596885651
|
|
NM_004380.3(CREBBP):c.286C>T (p.Gln96Ter)
|
rs587783476
|
|
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.2910dup (p.Arg971fs)
|
rs1596882629
|
|
NM_004380.3(CREBBP):c.2911A>T (p.Arg971Ter)
|
rs1374436403
|
|
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.299del (p.Gly100fs)
|
rs587783477
|
|
NM_004380.3(CREBBP):c.2T>A (p.Met1Lys)
|
rs797045487
|
|
NM_004380.3(CREBBP):c.3003C>T (p.Thr1001=)
|
|
|
NM_004380.3(CREBBP):c.3008C>G (p.Ala1003Gly)
|
|
|
NM_004380.3(CREBBP):c.3020_3021dup (p.Pro1008fs)
|
rs1596882124
|
|
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.3058G>T (p.Glu1020Ter)
|
rs1596882010
|
|
NM_004380.3(CREBBP):c.3060+1G>T
|
rs1596882004
|
|
NM_004380.3(CREBBP):c.3061-12G>A
|
|
|
NM_004380.3(CREBBP):c.3061-19C>G
|
|
|
NM_004380.3(CREBBP):c.3061-1G>T
|
rs1555481030
|
|
NM_004380.3(CREBBP):c.3061-6C>G
|
|
|
NM_004380.3(CREBBP):c.3068del (p.Glu1023fs)
|
|
|
NM_004380.3(CREBBP):c.3077_3085delinsAA (p.Leu1026_Ala1029delinsTer)
|
rs797045488
|
|
NM_004380.3(CREBBP):c.3097A>T (p.Lys1033Ter)
|
rs1596878921
|
|
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.3163G>T (p.Val1055Leu)
|
|
|
NM_004380.3(CREBBP):c.3168dup (p.Val1057fs)
|
rs1596878700
|
|
NM_004380.3(CREBBP):c.316C>T (p.Gln106Ter)
|
rs587783478
|
|
NM_004380.3(CREBBP):c.3175G>C (p.Val1059Leu)
|
|
|
NM_004380.3(CREBBP):c.3178_3183del (p.Lys1060_Glu1061del)
|
|
|
NM_004380.3(CREBBP):c.3181G>A (p.Glu1061Lys)
|
|
|
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.3190G>A (p.Glu1064Lys)
|
rs886041006
|
|
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.3227C>T (p.Ser1076Phe)
|
rs1476678901
|
|
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.3249A>T (p.Lys1083Asn)
|
rs2141181124
|
|
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.3270dup (p.Arg1091fs)
|
|
|
NM_004380.3(CREBBP):c.3287C>T (p.Pro1096Leu)
|
|
|
NM_004380.3(CREBBP):c.3292del (p.Thr1097_Leu1098insTer)
|
rs1596856390
|
|
NM_004380.3(CREBBP):c.32A>G (p.Asn11Ser)
|
|
|
NM_004380.3(CREBBP):c.3307C>T (p.Arg1103Ter)
|
|
|
NM_004380.3(CREBBP):c.3310C>T (p.Gln1104Ter)
|
rs587783479
|
|
NM_004380.3(CREBBP):c.3330_3334del (p.Phe1111fs)
|
rs1596856285
|
|
NM_004380.3(CREBBP):c.3336G>A (p.Arg1112=)
|
|
|
NM_004380.3(CREBBP):c.3360C>T (p.Leu1120=)
|
|
|
NM_004380.3(CREBBP):c.3366dup (p.Pro1123fs)
|
rs1596856176
|
|
NM_004380.3(CREBBP):c.3369+1G>A
|
rs587783480
|
|
NM_004380.3(CREBBP):c.3369+1G>T
|
rs587783480
|
|
NM_004380.3(CREBBP):c.3369+1del
|
rs2151385509
|
|
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.3370-2A>G
|
rs866703165
|
|
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.3418del (p.Arg1140fs)
|
rs2151383848
|
|
NM_004380.3(CREBBP):c.3425T>C (p.Leu1142Pro)
|
rs2151383792
|
|
NM_004380.3(CREBBP):c.3432_3433del (p.Gly1145fs)
|
rs1596854369
|
|
NM_004380.3(CREBBP):c.3436C>T (p.Gln1146Ter)
|
rs797045489
|
|
NM_004380.3(CREBBP):c.3438A>G (p.Gln1146=)
|
|
|
NM_004380.3(CREBBP):c.3459C>T (p.Tyr1153=)
|
|
|
NM_004380.3(CREBBP):c.3461dup (p.Asp1155fs)
|
rs797045490
|
|
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.348_349dup (p.Ala117fs)
|
rs797045491
|
|
NM_004380.3(CREBBP):c.3490G>C (p.Ala1164Pro)
|
rs797045492
|
|
NM_004380.3(CREBBP):c.3494_3497dup (p.Tyr1167fs)
|
|
|
NM_004380.3(CREBBP):c.3495_3575del (p.Trp1165_Val1192delinsCys)
|
rs1596853925
|
|
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys)
|
rs587783481
|
|
NM_004380.3(CREBBP):c.3504_3527del (p.Asn1168_Tyr1175del)
|
|
|
NM_004380.3(CREBBP):c.3506G>A (p.Arg1169His)
|
|
|
NM_004380.3(CREBBP):c.3507C>G (p.Arg1169=)
|
|
|
NM_004380.3(CREBBP):c.3512C>G (p.Thr1171Arg)
|
|
|
NM_004380.3(CREBBP):c.3516C>T (p.Ser1172=)
|
rs2151383343
|
|
NM_004380.3(CREBBP):c.351C>T (p.Ala117=)
|
|
|
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys)
|
rs28937315
|
|
NM_004380.3(CREBBP):c.3531T>C (p.Phe1177=)
|
|
|
NM_004380.3(CREBBP):c.3535A>G (p.Ser1179Gly)
|
rs1596854023
|
|
NM_004380.3(CREBBP):c.3571C>A (p.Pro1191Thr)
|
rs2151383193
|
|
NM_004380.3(CREBBP):c.3573T>C (p.Pro1191=)
|
rs536159666
|
|
NM_004380.3(CREBBP):c.3591A>T (p.Gly1197=)
|
|
|
NM_004380.3(CREBBP):c.3598del (p.Cys1200fs)
|
rs2052622209
|
|
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.3610-1G>C
|
rs1596852670
|
|
NM_004380.3(CREBBP):c.3610-2A>G
|
rs1596852674
|
|
NM_004380.3(CREBBP):c.3613G>T (p.Glu1205Ter)
|
rs587783482
|
|
NM_004380.3(CREBBP):c.3615G>A (p.Glu1205=)
|
|
|
NM_004380.3(CREBBP):c.3623dup (p.Gln1209fs)
|
rs2052611239
|
|
NM_004380.3(CREBBP):c.3625C>T (p.Gln1209Ter)
|
rs1596852578
|
|
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.3659C>T (p.Thr1220Ile)
|
|
|
NM_004380.3(CREBBP):c.3659_3660delinsATGGTA (p.Thr1220fs)
|
rs1596852463
|
|
NM_004380.3(CREBBP):c.3661_3665del (p.Ile1221fs)
|
rs1596852443
|
|
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.3690T>G (p.Tyr1230Ter)
|
rs748451307
|
|
NM_004380.3(CREBBP):c.3698+11A>G
|
|
|
NM_004380.3(CREBBP):c.3698+5G>T
|
rs1596852349
|
|
NM_004380.3(CREBBP):c.3698+6C>T
|
|
|
NM_004380.3(CREBBP):c.3698G>A (p.Arg1233Lys)
|
rs1057518844
|
|
NM_004380.3(CREBBP):c.3699-11C>A
|
|
|
NM_004380.3(CREBBP):c.3699-1469_3836+1579del
|
|
|
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.3749C>A (p.Thr1250Asn)
|
|
|
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.376G>T (p.Gly126Ter)
|
rs1597054242
|
|
NM_004380.3(CREBBP):c.3771G>T (p.Gln1257His)
|
|
|
NM_004380.3(CREBBP):c.3779+10G>A
|
|
|
NM_004380.3(CREBBP):c.3779+1G>A
|
rs587783483
|
|
NM_004380.3(CREBBP):c.3779+1G>C
|
rs587783483
|
|
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.37A>G (p.Lys13Glu)
|
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.3832G>A (p.Glu1278Lys)
|
rs267606752
|
|
NM_004380.3(CREBBP):c.3832G>C (p.Glu1278Gln)
|
rs267606752
|
|
NM_004380.3(CREBBP):c.3832del (p.Glu1278fs)
|
rs1596834998
|
|
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.3836C>G (p.Pro1279Arg)
|
rs749189606
|
|
NM_004380.3(CREBBP):c.3837-19C>T
|
|
|
NM_004380.3(CREBBP):c.3837-2A>T
|
rs1567277287
|
|
NM_004380.3(CREBBP):c.3839T>A (p.Phe1280Tyr)
|
|
|
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.3892T>C (p.Tyr1298His)
|
rs2052315739
|
|
NM_004380.3(CREBBP):c.3907C>T (p.Pro1303Ser)
|
rs2151355349
|
|
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+1G>A
|
rs1555475352
|
|
NM_004380.3(CREBBP):c.3914+1G>T
|
rs1555475352
|
|
NM_004380.3(CREBBP):c.3914+20C>T
|
|
|
NM_004380.3(CREBBP):c.3914+3G>T
|
rs587783485
|
|
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.3940A>T (p.Lys1314Ter)
|
rs2151354104
|
|
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.3974G>T (p.Ser1325Ile)
|
rs760292945
|
|
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.3982+1G>A
|
rs398124145
|
|
NM_004380.3(CREBBP):c.3982+3A>T
|
rs1596823180
|
|
NM_004380.3(CREBBP):c.3983-17C>G
|
|
|
NM_004380.3(CREBBP):c.3983-1G>C
|
rs2151341377
|
|
NM_004380.3(CREBBP):c.3983-2A>G
|
rs587783486
|
|
NM_004380.3(CREBBP):c.3983-4del
|
|
|
NM_004380.3(CREBBP):c.3983-7T>C
|
|
|
NM_004380.3(CREBBP):c.3989A>G (p.Gln1330Arg)
|
rs587783487
|
|
NM_004380.3(CREBBP):c.4011C>T (p.His1337=)
|
|
|
NM_004380.3(CREBBP):c.4013T>G (p.Leu1338Trp)
|
rs2151341032
|
|
NM_004380.3(CREBBP):c.4022G>C (p.Arg1341Pro)
|
rs587783488
|
|
NM_004380.3(CREBBP):c.4040G>C (p.Arg1347Pro)
|
rs1596813665
|
|
NM_004380.3(CREBBP):c.4043G>A (p.Arg1348His)
|
|
|
NM_004380.3(CREBBP):c.4045C>T (p.Gln1349Ter)
|
rs587783489
|
|
NM_004380.3(CREBBP):c.4062C>T (p.Ala1354=)
|
|
|
NM_004380.3(CREBBP):c.4063G>A (p.Gly1355Arg)
|
|
|
NM_004380.3(CREBBP):c.4067_4071del (p.Glu1356fs)
|
|
|
NM_004380.3(CREBBP):c.4068G>A (p.Glu1356=)
|
|
|
NM_004380.3(CREBBP):c.406C>T (p.Gln136Ter)
|
rs121434624
|
|
NM_004380.3(CREBBP):c.4078C>T (p.Arg1360Ter)
|
rs587783490
|
|
NM_004380.3(CREBBP):c.4078dup (p.Arg1360fs)
|
rs1596813570
|
|
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+1G>A
|
rs587783491
|
|
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.4133G>C (p.Arg1378Pro)
|
rs121434626
|
|
NM_004380.3(CREBBP):c.4134-1G>T
|
rs886041048
|
|
NM_004380.3(CREBBP):c.413C>G (p.Ala138Gly)
|
|
|
NM_004380.3(CREBBP):c.4141G>A (p.Asp1381Asn)
|
rs2052155279
|
|
NM_004380.3(CREBBP):c.4145C>T (p.Ser1382Phe)
|
rs149877180
|
|
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.4174C>T (p.Arg1392Ter)
|
rs1596812306
|
|
NM_004380.3(CREBBP):c.4175G>T (p.Arg1392Leu)
|
rs1596812290
|
|
NM_004380.3(CREBBP):c.4185T>C (p.Ala1395=)
|
|
|
NM_004380.3(CREBBP):c.4206del (p.Ile1402fs)
|
rs1596812256
|
|
NM_004380.3(CREBBP):c.4208A>G (p.Asp1403Gly)
|
|
|
NM_004380.3(CREBBP):c.4210G>A (p.Gly1404Ser)
|
|
|
NM_004380.3(CREBBP):c.4216G>T (p.Asp1406Tyr)
|
rs2052153254
|
|
NM_004380.3(CREBBP):c.4226T>C (p.Phe1409Ser)
|
rs587783492
|
|
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.4243C>T (p.Gln1415Ter)
|
rs1596812202
|
|
NM_004380.3(CREBBP):c.4251C>G (p.Tyr1417Ter)
|
|
|
NM_004380.3(CREBBP):c.4252G>A (p.Gly1418Ser)
|
|
|
NM_004380.3(CREBBP):c.4262G>T (p.Cys1421Phe)
|
rs200616542
|
|
NM_004380.3(CREBBP):c.4263C>T (p.Cys1421=)
|
|
|
NM_004380.3(CREBBP):c.4266C>G (p.Pro1422=)
|
|
|
NM_004380.3(CREBBP):c.4277C>G (p.Thr1426Arg)
|
rs145988918
|
|
NM_004380.3(CREBBP):c.4277C>T (p.Thr1426Met)
|
|
|
NM_004380.3(CREBBP):c.4278G>A (p.Thr1426=)
|
|
|
NM_004380.3(CREBBP):c.4279A>G (p.Arg1427Gly)
|
rs794727401
|
|
NM_004380.3(CREBBP):c.4280+20del
|
|
|
NM_004380.3(CREBBP):c.4281-11C>G
|
rs587783493
|
|
NM_004380.3(CREBBP):c.4281-19A>G
|
|
|
NM_004380.3(CREBBP):c.4281G>T (p.Arg1427Ser)
|
rs797045494
|
|
NM_004380.3(CREBBP):c.4283G>C (p.Arg1428Pro)
|
rs778448390
|
|
NM_004380.3(CREBBP):c.4290C>A (p.Tyr1430Ter)
|
rs1596810465
|
|
NM_004380.3(CREBBP):c.4296T>G (p.Ser1432=)
|
|
|
NM_004380.3(CREBBP):c.4297T>C (p.Tyr1433His)
|
rs1596810435
|
|
NM_004380.3(CREBBP):c.4299T>C (p.Tyr1433=)
|
|
|
NM_004380.3(CREBBP):c.4303G>T (p.Asp1435Tyr)
|
rs1596810419
|
|
NM_004380.3(CREBBP):c.4305T>G (p.Asp1435Glu)
|
rs928061320
|
|
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.4376A>G (p.Glu1459Gly)
|
rs587783494
|
|
NM_004380.3(CREBBP):c.4392A>G (p.Leu1464=)
|
|
|
NM_004380.3(CREBBP):c.4394+3G>A
|
|
|
NM_004380.3(CREBBP):c.4394+3_4394+7del
|
rs1596810185
|
|
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.4398T>A (p.Tyr1466Ter)
|
rs147688139
|
|
NM_004380.3(CREBBP):c.4404_4405del (p.Gly1469fs)
|
rs2151330140
|
|
NM_004380.3(CREBBP):c.4404dup (p.Gly1469fs)
|
rs2052073167
|
|
NM_004380.3(CREBBP):c.4409A>C (p.His1470Pro)
|
|
|
NM_004380.3(CREBBP):c.4417G>A (p.Ala1473Thr)
|
rs1596805927
|
|
NM_004380.3(CREBBP):c.4421_4422delinsTC (p.Cys1474Phe)
|
rs1555473126
|
|
NM_004380.3(CREBBP):c.4436_4438del (p.Gly1479del)
|
rs1555473122
|
|
NM_004380.3(CREBBP):c.4438GAT[1] (p.Asp1481del)
|
|
|
NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly)
|
rs886041286
|
|
NM_004380.3(CREBBP):c.4440T>C (p.Asp1480=)
|
|
|
NM_004380.3(CREBBP):c.4444T>G (p.Tyr1482Asp)
|
rs587783495
|
|
NM_004380.3(CREBBP):c.4445A>G (p.Tyr1482Cys)
|
rs587783496
|
|
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.4458_4459insT (p.His1487fs)
|
rs1596805807
|
|
NM_004380.3(CREBBP):c.4459C>T (p.His1487Tyr)
|
rs1057519207
|
|
NM_004380.3(CREBBP):c.4460A>G (p.His1487Arg)
|
rs1596805792
|
|
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.4490A>C (p.Lys1497Thr)
|
|
|
NM_004380.3(CREBBP):c.4492C>T (p.Arg1498Ter)
|
rs2052070776
|
|
NM_004380.3(CREBBP):c.44C>G (p.Ala15Gly)
|
|
|
NM_004380.3(CREBBP):c.4508A>G (p.Tyr1503Cys)
|
rs587783497
|
|
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.4559A>T (p.Lys1520Met)
|
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.4567_4568del (p.Phe1523fs)
|
|
|
NM_004380.3(CREBBP):c.4571A>G (p.Lys1524Arg)
|
|
|
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.4613C>T (p.Pro1538Leu)
|
rs1596804126
|
|
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.4644_4646dup (p.Leu1549dup)
|
rs1596804073
|
|
NM_004380.3(CREBBP):c.4649A>C (p.Glu1550Ala)
|
|
|
NM_004380.3(CREBBP):c.4650_4654del (p.Glu1551fs)
|
|
|
NM_004380.3(CREBBP):c.4660A>T (p.Lys1554Ter)
|
rs1567269316
|
|
NM_004380.3(CREBBP):c.4662G>A (p.Lys1554=)
|
|
|
NM_004380.3(CREBBP):c.4663G>T (p.Glu1555Ter)
|
rs1555472931
|
|
NM_004380.3(CREBBP):c.4666C>G (p.Leu1556Val)
|
|
|
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.4689del (p.Lys1565fs)
|
rs587783499
|
|
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+2del
|
rs1596803811
|
|
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.4792del (p.Ser1598fs)
|
rs587783500
|
|
NM_004380.3(CREBBP):c.4795A>G (p.Ser1599Gly)
|
|
|
NM_004380.3(CREBBP):c.47_48delinsT (p.Lys16fs)
|
rs2055490250
|
|
NM_004380.3(CREBBP):c.4804C>A (p.Arg1602Ser)
|
rs2151319330
|
|
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+1G>A
|
rs1596793242
|
|
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>C (p.Phe1632Leu)
|
rs587783501
|
|
NM_004380.3(CREBBP):c.4894T>G (p.Phe1632Val)
|
|
|
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del)
|
rs1555471931
|
|
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.494_507del (p.Ser165fs)
|
rs1597053795
|
|
NM_004380.3(CREBBP):c.4962C>G (p.Pro1654=)
|
|
|
NM_004380.3(CREBBP):c.4981A>C (p.Met1661Leu)
|
|
|
NM_004380.3(CREBBP):c.4991G>A (p.Arg1664His)
|
rs1596791996
|
|
NM_004380.3(CREBBP):c.4991G>T (p.Arg1664Leu)
|
rs1596791996
|
|
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.5027G>A (p.Trp1676Ter)
|
rs797045495
|
|
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.5050T>C (p.Ser1684Pro)
|
rs587783503
|
|
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.5158T>C (p.Cys1720Arg)
|
rs2051906390
|
|
NM_004380.3(CREBBP):c.515G>T (p.Gly172Val)
|
|
|
NM_004380.3(CREBBP):c.5163T>C (p.Thr1721=)
|
|
|
NM_004380.3(CREBBP):c.5169C>G (p.Cys1723Trp)
|
rs146718571
|
|
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.5186G>C (p.Cys1729Ser)
|
rs2051863859
|
|
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.5237G>T (p.Gly1746Val)
|
rs869312714
|
|
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.5357G>A (p.Arg1786His)
|
rs988251457
|
|
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.5412C>A (p.His1804Gln)
|
rs797045496
|
|
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.5462A>G (p.Gln1821Arg)
|
rs1448187215
|
|
NM_004380.3(CREBBP):c.5467A>T (p.Ile1823Phe)
|
|
|
NM_004380.3(CREBBP):c.5482_5484del (p.Tyr1828del)
|
rs1596787459
|
|
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.5555_5575del (p.Gln1852_Arg1858del)
|
rs2151309803
|
|
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.5611A>C (p.Thr1871Pro)
|
rs2051850835
|
|
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.5683C>T (p.Gln1895Ter)
|
|
|
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.5710C>T (p.Gln1904Ter)
|
rs2151308835
|
|
NM_004380.3(CREBBP):c.5715C>A (p.Pro1905=)
|
|
|
NM_004380.3(CREBBP):c.5722del (p.Gln1908fs)
|
rs1596786752
|
|
NM_004380.3(CREBBP):c.5730A>G (p.Gln1910=)
|
|
|
NM_004380.3(CREBBP):c.5739C>T (p.Pro1913=)
|
|
|
NM_004380.3(CREBBP):c.5763C>G (p.Phe1921Leu)
|
rs2051845365
|
|
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.5790dup (p.Thr1931fs)
|
rs1596786512
|
|
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.5821C>T (p.Gln1941Ter)
|
rs587783505
|
|
NM_004380.3(CREBBP):c.5828C>A (p.Pro1943Gln)
|
|
|
NM_004380.3(CREBBP):c.5828C>T (p.Pro1943Leu)
|
|
|
NM_004380.3(CREBBP):c.5834_5844del (p.Pro1945fs)
|
rs587783506
|
|
NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln)
|
rs765600316
|
|
NM_004380.3(CREBBP):c.5837del (p.Pro1946fs)
|
rs587783507
|
|
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs)
|
rs587783507
|
|
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.5842C>A (p.Pro1948Thr)
|
rs1231016252
|
|
NM_004380.3(CREBBP):c.5844_5846dup (p.Ala1949dup)
|
rs2151307787
|
|
NM_004380.3(CREBBP):c.5845G>A (p.Ala1949Thr)
|
|
|
NM_004380.3(CREBBP):c.5845dup (p.Ala1949fs)
|
rs1596786219
|
|
NM_004380.3(CREBBP):c.5856dup (p.Pro1953fs)
|
rs1596786167
|
|
NM_004380.3(CREBBP):c.5869del (p.Glu1957fs)
|
rs587783508
|
|
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.5905C>T (p.Gln1969Ter)
|
rs1567262537
|
|
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.5936_5937insT (p.Ser1980fs)
|
rs797045498
|
|
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.5961_5981delinsGCAT (p.Met1988fs)
|
rs2151306905
|
|
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.5986del (p.Ala1996fs)
|
rs1596785514
|
|
NM_004380.3(CREBBP):c.598C>T (p.Gln200Ter)
|
rs587783509
|
|
NM_004380.3(CREBBP):c.5991del (p.Pro1997_Val1998insTer)
|
|
|
NM_004380.3(CREBBP):c.599A>G (p.Gln200Arg)
|
|
|
NM_004380.3(CREBBP):c.59C>T (p.Pro20Leu)
|
|
|
NM_004380.3(CREBBP):c.6005_6006del (p.Val2002fs)
|
|
|
NM_004380.3(CREBBP):c.6007C>T (p.Pro2003Ser)
|
rs1282498604
|
|
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.6088C>T (p.Gln2030Ter)
|
rs587783510
|
|
NM_004380.3(CREBBP):c.6102C>T (p.Gly2034=)
|
|
|
NM_004380.3(CREBBP):c.6104del (p.Leu2035fs)
|
rs2051830234
|
|
NM_004380.3(CREBBP):c.6107_6116del (p.Pro2036fs)
|
rs797045499
|
|
NM_004380.3(CREBBP):c.6110G>A (p.Arg2037Lys)
|
|
|
NM_004380.3(CREBBP):c.6113_6137del (p.Pro2038fs)
|
rs1596784713
|
|
NM_004380.3(CREBBP):c.6113_6137dup (p.Ala2047fs)
|
rs1596784713
|
|
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.6130_6171del (p.Ala2044_Gln2057del)
|
rs587783511
|
|
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.613C>T (p.Gln205Ter)
|
rs1597053504
|
|
NM_004380.3(CREBBP):c.615G>A (p.Gln205=)
|
|
|
NM_004380.3(CREBBP):c.6164G>C (p.Ser2055Thr)
|
|
|
NM_004380.3(CREBBP):c.6169C>T (p.Gln2057Ter)
|
|
|
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.6221_6230del (p.Leu2074fs)
|
rs1596784310
|
|
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.6241C>T (p.Gln2081Ter)
|
rs886041518
|
|
NM_004380.3(CREBBP):c.6244C>T (p.Gln2082Ter)
|
rs1057518789
|
|
NM_004380.3(CREBBP):c.6250C>T (p.Gln2084Ter)
|
rs2051825168
|
|
NM_004380.3(CREBBP):c.625A>G (p.Met209Val)
|
|
|
NM_004380.3(CREBBP):c.6273A>G (p.Lys2091=)
|
|
|
NM_004380.3(CREBBP):c.6275C>G (p.Ser2092Ter)
|
rs1555471077
|
|
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.6324C>A (p.Tyr2108Ter)
|
rs199821421
|
|
NM_004380.3(CREBBP):c.6324C>G (p.Tyr2108Ter)
|
rs199821421
|
|
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.6388C>T (p.Gln2130Ter)
|
rs2151304304
|
|
NM_004380.3(CREBBP):c.6390G>C (p.Gln2130His)
|
|
|
NM_004380.3(CREBBP):c.6391C>T (p.Pro2131Ser)
|
|
|
NM_004380.3(CREBBP):c.6395_6417del (p.Gly2132fs)
|
rs797045500
|
|
NM_004380.3(CREBBP):c.6395_6417dup (p.Gln2140fs)
|
rs797045500
|
|
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.6436C>T (p.Gln2146Ter)
|
rs1596783639
|
|
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.6454C>T (p.Pro2152Ser)
|
rs773348705
|
|
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.6557A>T (p.Asn2186Ile)
|
rs1358192617
|
|
NM_004380.3(CREBBP):c.6559C>T (p.Pro2187Ser)
|
rs2151303211
|
|
NM_004380.3(CREBBP):c.6585G>A (p.Arg2195=)
|
|
|
NM_004380.3(CREBBP):c.6587_6588dup (p.Leu2197fs)
|
|
|
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_6629del (p.Gln2214_Gln2216del)
|
rs727503890
|
|
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.662_698del (p.Gly221fs)
|
rs1597053322
|
|
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.668G>C (p.Gly223Ala)
|
rs2054806972
|
|
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=)
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NM_004380.3(CREBBP):c.6909_6910delinsTA (p.Gln2303_Gln2304delinsHisLys)
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NM_004380.3(CREBBP):c.6930G>T (p.Gln2310His)
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NM_004380.3(CREBBP):c.6932C>T (p.Pro2311Leu)
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NM_004380.3(CREBBP):c.6933G>A (p.Pro2311=)
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NM_004380.3(CREBBP):c.6959T>C (p.Met2320Thr)
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NM_004380.3(CREBBP):c.695A>G (p.Gln232Arg)
|
rs2054805900
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NM_004380.3(CREBBP):c.6969A>G (p.Gly2323=)
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NM_004380.3(CREBBP):c.6972G>A (p.Gln2324=)
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NM_004380.3(CREBBP):c.6983C>T (p.Ser2328Leu)
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NM_004380.3(CREBBP):c.6997C>A (p.Gln2333Lys)
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NM_004380.3(CREBBP):c.7005C>T (p.Ile2335=)
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NM_004380.3(CREBBP):c.7006G>A (p.Ala2336Thr)
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NM_004380.3(CREBBP):c.700G>A (p.Ala234Thr)
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NM_004380.3(CREBBP):c.7011G>C (p.Thr2337=)
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NM_004380.3(CREBBP):c.7023C>G (p.Asn2341Lys)
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NM_004380.3(CREBBP):c.702C>T (p.Ala234=)
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NM_004380.3(CREBBP):c.7030C>T (p.Arg2344Trp)
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NM_004380.3(CREBBP):c.7041C>T (p.Ala2347=)
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NM_004380.3(CREBBP):c.7058_7078del (p.Arg2353_Pro2359del)
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rs766383937
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NM_004380.3(CREBBP):c.7062C>T (p.Pro2354=)
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NM_004380.3(CREBBP):c.70G>A (p.Ala24Thr)
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NM_004380.3(CREBBP):c.7106C>T (p.Pro2369Leu)
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NM_004380.3(CREBBP):c.7107C>G (p.Pro2369=)
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NM_004380.3(CREBBP):c.7111C>A (p.Pro2371Thr)
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NM_004380.3(CREBBP):c.7123C>T (p.His2375Tyr)
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NM_004380.3(CREBBP):c.712G>A (p.Val238Met)
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rs146887252
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NM_004380.3(CREBBP):c.712G>C (p.Val238Leu)
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rs146887252
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NM_004380.3(CREBBP):c.7136A>C (p.Gln2379Pro)
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NM_004380.3(CREBBP):c.7146C>T (p.Ser2382=)
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NM_004380.3(CREBBP):c.7149C>A (p.Pro2383=)
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NM_004380.3(CREBBP):c.7155C>T (p.Pro2385=)
|
rs763948946
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NM_004380.3(CREBBP):c.7161C>G (p.Leu2387=)
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NM_004380.3(CREBBP):c.7182C>T (p.Ser2394=)
|
rs934317603
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NM_004380.3(CREBBP):c.7195C>T (p.His2399Tyr)
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NM_004380.3(CREBBP):c.7198T>C (p.Leu2400=)
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NM_004380.3(CREBBP):c.719C>T (p.Ala240Val)
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NM_004380.3(CREBBP):c.7203G>T (p.Gly2401=)
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NM_004380.3(CREBBP):c.7207C>G (p.Pro2403Ala)
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NM_004380.3(CREBBP):c.7209C>T (p.Pro2403=)
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NM_004380.3(CREBBP):c.7210G>A (p.Glu2404Lys)
|
rs863223334
|
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NM_004380.3(CREBBP):c.721G>A (p.Glu241Lys)
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NM_004380.3(CREBBP):c.7243C>T (p.Pro2415Ser)
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NM_004380.3(CREBBP):c.7245C>T (p.Pro2415=)
|
rs1555470758
|
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NM_004380.3(CREBBP):c.7255G>A (p.Ala2419Thr)
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NM_004380.3(CREBBP):c.7256C>T (p.Ala2419Val)
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NM_004380.3(CREBBP):c.7257G>A (p.Ala2419=)
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NM_004380.3(CREBBP):c.725C>A (p.Thr242Asn)
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NM_004380.3(CREBBP):c.7261_*247delinsC (p.Ser2421_Ter2443delinsXaa)
|
rs1555470631
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NM_004380.3(CREBBP):c.7266C>G (p.Ser2422Arg)
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NM_004380.3(CREBBP):c.726C>G (p.Thr242=)
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NM_004380.3(CREBBP):c.7281C>T (p.Val2427=)
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NM_004380.3(CREBBP):c.7290_7301dup (p.Thr2434_Leu2435insThrGlyAspThr)
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NM_004380.3(CREBBP):c.7292C>T (p.Thr2431Met)
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NM_004380.3(CREBBP):c.7300A>G (p.Thr2434Ala)
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NM_004380.3(CREBBP):c.7311G>T (p.Lys2437Asn)
|
rs895608889
|
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NM_004380.3(CREBBP):c.731C>T (p.Thr244Met)
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NM_004380.3(CREBBP):c.7326G>A (p.Leu2442=)
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NM_004380.3(CREBBP):c.732G>A (p.Thr244=)
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NM_004380.3(CREBBP):c.733C>T (p.Gln245Ter)
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NM_004380.3(CREBBP):c.739T>C (p.Ser247Pro)
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NM_004380.3(CREBBP):c.749T>C (p.Met250Thr)
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NM_004380.3(CREBBP):c.753T>G (p.Thr251=)
|
rs142403441
|
|
NM_004380.3(CREBBP):c.756T>C (p.Gly252=)
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|
|
NM_004380.3(CREBBP):c.758A>G (p.His253Arg)
|
rs142268920
|
|
NM_004380.3(CREBBP):c.760G>T (p.Ala254Ser)
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|
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NM_004380.3(CREBBP):c.761C>T (p.Ala254Val)
|
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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=)
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|
|
NM_004380.3(CREBBP):c.775G>T (p.Ala259Ser)
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|
|
NM_004380.3(CREBBP):c.778C>A (p.Gln260Lys)
|
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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)
|
|
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NM_004380.3(CREBBP):c.810T>C (p.Thr270=)
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|
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NM_004380.3(CREBBP):c.827_828dup (p.Gly277fs)
|
rs797045502
|
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NM_004380.3(CREBBP):c.828_840del (p.Phe276fs)
|
|
|
NM_004380.3(CREBBP):c.85+11G>A
|
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NM_004380.3(CREBBP):c.85+13_85+28del
|
|
|
NM_004380.3(CREBBP):c.85+14C>T
|
|
|
NM_004380.3(CREBBP):c.85+1G>A
|
rs1597099388
|
|
NM_004380.3(CREBBP):c.85+2T>G
|
|
|
NM_004380.3(CREBBP):c.85+7_85+13del
|
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NM_004380.3(CREBBP):c.851del (p.Gly284fs)
|
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NM_004380.3(CREBBP):c.858G>A (p.Gln286=)
|
|
|
NM_004380.3(CREBBP):c.859_860inv (p.Pro287Gly)
|
|
|
NM_004380.3(CREBBP):c.86-1G>T
|
rs11644721
|
|
NM_004380.3(CREBBP):c.86-20C>A
|
|
|
NM_004380.3(CREBBP):c.86-2A>C
|
rs587783515
|
|
NM_004380.3(CREBBP):c.862A>G (p.Met288Val)
|
|
|
NM_004380.3(CREBBP):c.874G>A (p.Gly292Arg)
|
|
|
NM_004380.3(CREBBP):c.875G>A (p.Gly292Glu)
|
|
|
NM_004380.3(CREBBP):c.875G>T (p.Gly292Val)
|
|
|
NM_004380.3(CREBBP):c.878T>A (p.Val293Glu)
|
rs1239213391
|
|
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.953C>A (p.Ser318Ter)
|
rs587783516
|
|
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.967_974dup (p.Met325fs)
|
rs1596984633
|
|
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=)
|
|
|
NM_004380.3(CREBBP):c.997G>T (p.Gly333Ter)
|
rs1596948165
|
|
NM_004380.3(CREBBP):c.998G>A (p.Gly333Glu)
|
rs2053548814
|
|
Single allele
|
|
|