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.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.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.6969C>G (p.Pro2323=)
|
rs111489369
|
0.00100
|
NM_001429.4(EP300):c.6675G>A (p.Gln2225=)
|
rs147880144
|
0.00092
|
NM_001429.4(EP300):c.4779+18A>G
|
rs146245982
|
0.00084
|
NM_001429.4(EP300):c.2998-14dup
|
rs560058125
|
0.00083
|
NM_001429.4(EP300):c.3143-9T>C
|
rs199773872
|
0.00083
|
NM_001429.4(EP300):c.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_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_001429.4(EP300):c.3105C>T (p.Thr1035=)
|
rs150498069
|
0.00048
|
NM_001429.4(EP300):c.2568A>G (p.Ala856=)
|
rs145037345
|
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_004380.3(CREBBP):c.3158C>T (p.Pro1053Leu)
|
rs142008620
|
0.00038
|
NM_004380.3(CREBBP):c.4119C>T (p.Pro1373=)
|
rs3025679
|
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_001429.4(EP300):c.6481A>G (p.Met2161Val)
|
rs188035979
|
0.00029
|
NM_001429.4(EP300):c.2380-18T>C
|
rs189468196
|
0.00028
|
NM_004380.3(CREBBP):c.5934C>T (p.Asn1978=)
|
rs754282387
|
0.00023
|
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.3750C>T (p.Thr1250=)
|
rs199885110
|
0.00019
|
NM_001429.4(EP300):c.1104C>T (p.His368=)
|
rs78045947
|
0.00018
|
NM_001429.4(EP300):c.6917A>G (p.Gln2306Arg)
|
rs140300789
|
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_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.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_004380.3(CREBBP):c.2225G>C (p.Arg742Pro)
|
rs748747684
|
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.1782G>C (p.Thr594=)
|
rs17002307
|
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_001429.4(EP300):c.4026-7T>C
|
rs187388966
|
0.00012
|
NM_001429.4(EP300):c.2351C>T (p.Pro784Leu)
|
rs201480900
|
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.2925A>G (p.Glu975=)
|
rs75752076
|
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.3162A>G (p.Leu1054=)
|
rs139758629
|
0.00009
|
NM_001429.4(EP300):c.5598G>A (p.Pro1866=)
|
rs560633624
|
0.00009
|
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met)
|
rs369930675
|
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.681T>C (p.Pro227=)
|
rs201193684
|
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.6729C>T (p.Gly2243=)
|
rs765194008
|
0.00008
|
NM_001429.4(EP300):c.752A>G (p.Asn251Ser)
|
rs142009367
|
0.00008
|
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.3750C>T (p.Cys1250=)
|
rs747187417
|
0.00006
|
NM_001429.4(EP300):c.5644A>G (p.Ser1882Gly)
|
rs769796204
|
0.00006
|
NM_001429.4(EP300):c.7114A>G (p.Met2372Val)
|
rs768061933
|
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_001429.4(EP300):c.4503G>A (p.Leu1501=)
|
rs368320273
|
0.00005
|
NM_004380.3(CREBBP):c.177T>A (p.Leu59=)
|
rs201027381
|
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_001429.4(EP300):c.2359G>A (p.Gly787Ser)
|
rs564786569
|
0.00004
|
NM_001429.4(EP300):c.2756G>A (p.Ser919Asn)
|
rs141403873
|
0.00004
|
NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser)
|
rs749979249
|
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.6433A>G (p.Met2145Val)
|
rs758386187
|
0.00004
|
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=)
|
rs750845399
|
0.00004
|
NM_004380.3(CREBBP):c.7089G>A (p.Pro2363=)
|
rs199610814
|
0.00004
|
NM_001429.4(EP300):c.1302C>T (p.Pro434=)
|
rs199901345
|
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.6413C>T (p.Ala2138Val)
|
rs587778258
|
0.00003
|
NM_001429.4(EP300):c.7018G>A (p.Val2340Ile)
|
rs558456063
|
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.1758C>T (p.Thr586=)
|
rs138353979
|
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.4948G>A (p.Val1650Ile)
|
rs776549587
|
0.00003
|
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=)
|
rs200287696
|
0.00003
|
NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val)
|
rs745551441
|
0.00003
|
NM_001429.4(EP300):c.2334A>G (p.Thr778=)
|
rs374281264
|
0.00002
|
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=)
|
rs587783474
|
0.00002
|
NM_004380.3(CREBBP):c.4073T>C (p.Phe1358Ser)
|
rs762638591
|
0.00002
|
NM_004380.3(CREBBP):c.5204C>T (p.Thr1735Met)
|
rs1064793090
|
0.00002
|
NM_004380.3(CREBBP):c.6728C>T (p.Ala2243Val)
|
rs190153828
|
0.00002
|
NM_001429.4(EP300):c.1150T>G (p.Ser384Ala)
|
rs377368037
|
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.271C>T (p.Pro91Ser)
|
rs138538553
|
0.00001
|
NM_001429.4(EP300):c.2997+12G>A
|
rs372770495
|
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.5709C>T (p.Gly1903=)
|
rs200728751
|
0.00001
|
NM_001429.4(EP300):c.6352A>G (p.Met2118Val)
|
rs755381839
|
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.275G>A (p.Ser92Asn)
|
rs746902106
|
0.00001
|
NM_004380.3(CREBBP):c.3929A>G (p.Asn1310Ser)
|
rs558051943
|
0.00001
|
NM_004380.3(CREBBP):c.4740C>T (p.Gly1580=)
|
rs563033919
|
0.00001
|
NM_004380.3(CREBBP):c.4992C>T (p.Arg1664=)
|
rs756979739
|
0.00001
|
NM_004380.3(CREBBP):c.504G>A (p.Thr168=)
|
rs373310969
|
0.00001
|
NM_004380.3(CREBBP):c.5843C>T (p.Pro1948Leu)
|
rs557611780
|
0.00001
|
NM_004380.3(CREBBP):c.6684C>T (p.His2228=)
|
rs138613594
|
0.00001
|
NM_001429.4(EP300):c.1044T>C (p.Ala348=)
|
|
|
NM_001429.4(EP300):c.1077G>A (p.Gly359=)
|
|
|
NM_001429.4(EP300):c.1113A>G (p.Thr371=)
|
|
|
NM_001429.4(EP300):c.1152A>G (p.Ser384=)
|
|
|
NM_001429.4(EP300):c.1283-16C>T
|
rs200548363
|
|
NM_001429.4(EP300):c.1283-19dup
|
|
|
NM_001429.4(EP300):c.1283-6C>G
|
|
|
NM_001429.4(EP300):c.1449A>C (p.Gln483His)
|
|
|
NM_001429.4(EP300):c.156A>G (p.Glu52=)
|
|
|
NM_001429.4(EP300):c.1634G>A (p.Ser545Asn)
|
rs547550163
|
|
NM_001429.4(EP300):c.1785G>A (p.Pro595=)
|
|
|
NM_001429.4(EP300):c.1830A>G (p.Ala610=)
|
|
|
NM_001429.4(EP300):c.1878+19dup
|
|
|
NM_001429.4(EP300):c.1972C>A (p.Leu658Ile)
|
|
|
NM_001429.4(EP300):c.1983T>C (p.Ala661=)
|
|
|
NM_001429.4(EP300):c.2053+18T>C
|
|
|
NM_001429.4(EP300):c.2077A>G (p.Met693Val)
|
|
|
NM_001429.4(EP300):c.208A>G (p.Met70Val)
|
|
|
NM_001429.4(EP300):c.2131+24dup
|
rs766192274
|
|
NM_001429.4(EP300):c.2181C>T (p.Pro727=)
|
|
|
NM_001429.4(EP300):c.2256G>A (p.Gly752=)
|
|
|
NM_001429.4(EP300):c.231A>G (p.Lys77=)
|
|
|
NM_001429.4(EP300):c.2398T>G (p.Ser800Ala)
|
|
|
NM_001429.4(EP300):c.2505A>G (p.Val835=)
|
|
|
NM_001429.4(EP300):c.2520C>T (p.Pro840=)
|
|
|
NM_001429.4(EP300):c.2534C>G (p.Thr845Ser)
|
|
|
NM_001429.4(EP300):c.2573C>T (p.Thr858Ile)
|
|
|
NM_001429.4(EP300):c.257G>A (p.Arg86Gln)
|
|
|
NM_001429.4(EP300):c.2622G>C (p.Gln874His)
|
|
|
NM_001429.4(EP300):c.2676A>G (p.Gln892=)
|
|
|
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.2789C>T (p.Pro930Leu)
|
|
|
NM_001429.4(EP300):c.2801C>T (p.Pro934Leu)
|
|
|
NM_001429.4(EP300):c.287G>A (p.Gly96Glu)
|
|
|
NM_001429.4(EP300):c.2889T>C (p.Asn963=)
|
|
|
NM_001429.4(EP300):c.2915C>T (p.Pro972Leu)
|
|
|
NM_001429.4(EP300):c.2982G>A (p.Pro994=)
|
|
|
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.3045A>G (p.Arg1015=)
|
|
|
NM_001429.4(EP300):c.3116C>T (p.Pro1039Leu)
|
|
|
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.31C>T (p.Pro11Ser)
|
|
|
NM_001429.4(EP300):c.3282G>A (p.Lys1094=)
|
|
|
NM_001429.4(EP300):c.3354C>T (p.Val1118=)
|
rs11704815
|
|
NM_001429.4(EP300):c.33T>A (p.Pro11=)
|
|
|
NM_001429.4(EP300):c.3447T>C (p.Phe1149=)
|
|
|
NM_001429.4(EP300):c.3636C>T (p.Ser1212=)
|
|
|
NM_001429.4(EP300):c.3690A>G (p.Gln1230=)
|
|
|
NM_001429.4(EP300):c.3806+3A>G
|
rs1601629363
|
|
NM_001429.4(EP300):c.383A>T (p.Gln128Leu)
|
|
|
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.4188T>A (p.Ser1396=)
|
|
|
NM_001429.4(EP300):c.4191C>T (p.Tyr1397=)
|
|
|
NM_001429.4(EP300):c.443C>T (p.Thr148Met)
|
|
|
NM_001429.4(EP300):c.4602C>T (p.Ser1534=)
|
|
|
NM_001429.4(EP300):c.4687C>G (p.Leu1563Val)
|
|
|
NM_001429.4(EP300):c.4687C>T (p.Leu1563=)
|
rs564848230
|
|
NM_001429.4(EP300):c.4798C>G (p.Leu1600Val)
|
rs140154690
|
|
NM_001429.4(EP300):c.4884T>C (p.Asp1628=)
|
|
|
NM_001429.4(EP300):c.4920G>A (p.Glu1640=)
|
|
|
NM_001429.4(EP300):c.512C>T (p.Ala171Val)
|
|
|
NM_001429.4(EP300):c.524C>T (p.Pro175Leu)
|
|
|
NM_001429.4(EP300):c.532T>C (p.Leu178=)
|
|
|
NM_001429.4(EP300):c.5406G>A (p.Pro1802=)
|
|
|
NM_001429.4(EP300):c.5493G>A (p.Arg1831=)
|
|
|
NM_001429.4(EP300):c.5532A>G (p.Gln1844=)
|
|
|
NM_001429.4(EP300):c.5559C>A (p.Ala1853=)
|
|
|
NM_001429.4(EP300):c.5634C>T (p.Thr1878=)
|
|
|
NM_001429.4(EP300):c.5685T>C (p.Pro1895=)
|
|
|
NM_001429.4(EP300):c.5727C>T (p.Thr1909=)
|
|
|
NM_001429.4(EP300):c.5729CTC[1] (p.Pro1911del)
|
|
|
NM_001429.4(EP300):c.5784G>C (p.Met1928Ile)
|
|
|
NM_001429.4(EP300):c.5873C>T (p.Pro1958Leu)
|
|
|
NM_001429.4(EP300):c.5874G>T (p.Pro1958=)
|
|
|
NM_001429.4(EP300):c.5911C>T (p.Pro1971Ser)
|
|
|
NM_001429.4(EP300):c.6090A>G (p.Gln2030=)
|
|
|
NM_001429.4(EP300):c.6108A>T (p.Val2036=)
|
|
|
NM_001429.4(EP300):c.615G>T (p.Met205Ile)
|
|
|
NM_001429.4(EP300):c.6163T>C (p.Leu2055=)
|
|
|
NM_001429.4(EP300):c.6192C>A (p.Pro2064=)
|
|
|
NM_001429.4(EP300):c.6204A>G (p.Gln2068=)
|
|
|
NM_001429.4(EP300):c.6240G>A (p.Leu2080=)
|
|
|
NM_001429.4(EP300):c.6351C>T (p.Thr2117=)
|
|
|
NM_001429.4(EP300):c.6378C>T (p.Ser2126=)
|
|
|
NM_001429.4(EP300):c.6382C>G (p.Pro2128Ala)
|
|
|
NM_001429.4(EP300):c.63G>C (p.Pro21=)
|
|
|
NM_001429.4(EP300):c.6418G>A (p.Val2140Ile)
|
|
|
NM_001429.4(EP300):c.6522C>T (p.Thr2174=)
|
|
|
NM_001429.4(EP300):c.6543C>T (p.Asp2181=)
|
|
|
NM_001429.4(EP300):c.6633C>T (p.Phe2211=)
|
|
|
NM_001429.4(EP300):c.6641C>T (p.Pro2214Leu)
|
|
|
NM_001429.4(EP300):c.6659C>G (p.Pro2220Arg)
|
|
|
NM_001429.4(EP300):c.6696A>G (p.Gln2232=)
|
|
|
NM_001429.4(EP300):c.6743C>T (p.Ala2248Val)
|
|
|
NM_001429.4(EP300):c.6777C>T (p.Ala2259=)
|
|
|
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)
|
rs533875300
|
|
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.6921G>A (p.Val2307=)
|
|
|
NM_001429.4(EP300):c.7011A>G (p.Pro2337=)
|
|
|
NM_001429.4(EP300):c.7013A>G (p.His2338Arg)
|
|
|
NM_001429.4(EP300):c.7074C>T (p.Pro2358=)
|
|
|
NM_001429.4(EP300):c.7101G>A (p.Pro2367=)
|
|
|
NM_001429.4(EP300):c.7106A>G (p.Gln2369Arg)
|
|
|
NM_001429.4(EP300):c.7112C>T (p.Ser2371Leu)
|
|
|
NM_001429.4(EP300):c.7120T>G (p.Ser2374Ala)
|
|
|
NM_001429.4(EP300):c.7135A>C (p.Asn2379His)
|
|
|
NM_001429.4(EP300):c.713G>A (p.Gly238Asp)
|
|
|
NM_001429.4(EP300):c.7168G>A (p.Ala2390Thr)
|
|
|
NM_001429.4(EP300):c.7213A>G (p.Asn2405Asp)
|
|
|
NM_001429.4(EP300):c.7216C>T (p.Leu2406Phe)
|
|
|
NM_001429.4(EP300):c.730-18_730-9del
|
rs61120041
|
|
NM_001429.4(EP300):c.750C>T (p.Pro250=)
|
|
|
NM_001429.4(EP300):c.809T>G (p.Leu270Arg)
|
|
|
NM_001429.4(EP300):c.853T>C (p.Ser285Pro)
|
|
|
NM_001429.4(EP300):c.955G>A (p.Val319Ile)
|
|
|
NM_001429.4(EP300):c.963A>G (p.Gln321=)
|
|
|
NM_004380.3(CREBBP):c.1095T>C (p.His365=)
|
rs565069106
|
|
NM_004380.3(CREBBP):c.1128G>A (p.Glu376=)
|
|
|
NM_004380.3(CREBBP):c.1389G>A (p.Gly463=)
|
|
|
NM_004380.3(CREBBP):c.140A>G (p.Asn47Ser)
|
|
|
NM_004380.3(CREBBP):c.1565A>G (p.Asn522Ser)
|
|
|
NM_004380.3(CREBBP):c.1655C>A (p.Pro552Gln)
|
|
|
NM_004380.3(CREBBP):c.1656G>A (p.Pro552=)
|
|
|
NM_004380.3(CREBBP):c.1725C>T (p.Ser575=)
|
|
|
NM_004380.3(CREBBP):c.1735A>G (p.Thr579Ala)
|
|
|
NM_004380.3(CREBBP):c.1759G>A (p.Gly587Ser)
|
|
|
NM_004380.3(CREBBP):c.1779C>T (p.His593=)
|
|
|
NM_004380.3(CREBBP):c.181C>A (p.Pro61Thr)
|
|
|
NM_004380.3(CREBBP):c.1923C>T (p.Tyr641=)
|
|
|
NM_004380.3(CREBBP):c.1935C>T (p.Asn645=)
|
|
|
NM_004380.3(CREBBP):c.1941+18G>A
|
|
|
NM_004380.3(CREBBP):c.1942-17A>G
|
|
|
NM_004380.3(CREBBP):c.1986A>G (p.Gln662=)
|
|
|
NM_004380.3(CREBBP):c.2062C>G (p.Pro688Ala)
|
|
|
NM_004380.3(CREBBP):c.2068G>T (p.Ala690Ser)
|
rs531539047
|
|
NM_004380.3(CREBBP):c.2264G>A (p.Ser755Asn)
|
|
|
NM_004380.3(CREBBP):c.2287G>T (p.Ala763Ser)
|
|
|
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg)
|
rs147805823
|
|
NM_004380.3(CREBBP):c.2361G>A (p.Ala787=)
|
|
|
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr)
|
rs750178517
|
|
NM_004380.3(CREBBP):c.2441C>G (p.Pro814Arg)
|
|
|
NM_004380.3(CREBBP):c.250C>A (p.Pro84Thr)
|
rs770952413
|
|
NM_004380.3(CREBBP):c.2527C>G (p.Leu843Val)
|
|
|
NM_004380.3(CREBBP):c.2537C>G (p.Pro846Arg)
|
|
|
NM_004380.3(CREBBP):c.2585C>T (p.Thr862Met)
|
|
|
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.2702C>T (p.Pro901Leu)
|
|
|
NM_004380.3(CREBBP):c.270C>T (p.Ser90=)
|
|
|
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)
|
rs143247685
|
|
NM_004380.3(CREBBP):c.2828A>G (p.Gln943Arg)
|
|
|
NM_004380.3(CREBBP):c.2853T>C (p.Pro951=)
|
|
|
NM_004380.3(CREBBP):c.288G>A (p.Gln96=)
|
|
|
NM_004380.3(CREBBP):c.2942C>T (p.Ala981Val)
|
|
|
NM_004380.3(CREBBP):c.2951A>G (p.Asn984Ser)
|
|
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NM_004380.3(CREBBP):c.2977C>T (p.Pro993Ser)
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rs886042430
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NM_004380.3(CREBBP):c.2980G>A (p.Val994Met)
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NM_004380.3(CREBBP):c.2995A>G (p.Thr999Ala)
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NM_004380.3(CREBBP):c.2996C>T (p.Thr999Met)
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NM_004380.3(CREBBP):c.3008C>G (p.Ala1003Gly)
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NM_004380.3(CREBBP):c.3025G>A (p.Asp1009Asn)
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NM_004380.3(CREBBP):c.3200G>A (p.Ser1067Asn)
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NM_004380.3(CREBBP):c.3205G>A (p.Gly1069Ser)
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NM_004380.3(CREBBP):c.3205G>T (p.Gly1069Cys)
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rs555109138
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NM_004380.3(CREBBP):c.3240G>A (p.Pro1080=)
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NM_004380.3(CREBBP):c.3360C>T (p.Leu1120=)
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NM_004380.3(CREBBP):c.3370-16dup
|
rs75459669
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NM_004380.3(CREBBP):c.3370-4del
|
rs75459669
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NM_004380.3(CREBBP):c.3370-5_3370-4del
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rs75459669
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NM_004380.3(CREBBP):c.3459C>T (p.Tyr1153=)
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NM_004380.3(CREBBP):c.3469G>C (p.Val1157Leu)
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NM_004380.3(CREBBP):c.3507C>G (p.Arg1169=)
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NM_004380.3(CREBBP):c.3738C>T (p.Gly1246=)
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NM_004380.3(CREBBP):c.3759C>T (p.Asp1253=)
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NM_004380.3(CREBBP):c.382T>C (p.Ser128Pro)
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NM_004380.3(CREBBP):c.3924C>T (p.Cys1308=)
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NM_004380.3(CREBBP):c.3930C>T (p.Asn1310=)
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NM_004380.3(CREBBP):c.395G>A (p.Ser132Asn)
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NM_004380.3(CREBBP):c.4104G>A (p.Thr1368=)
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NM_004380.3(CREBBP):c.412G>A (p.Ala138Thr)
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NM_004380.3(CREBBP):c.444C>G (p.Ser148=)
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NM_004380.3(CREBBP):c.45C>G (p.Ala15=)
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NM_004380.3(CREBBP):c.4728+8C>T
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NM_004380.3(CREBBP):c.4729-14G>A
|
rs130008
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NM_004380.3(CREBBP):c.4729-14G>C
|
rs130008
|
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NM_004380.3(CREBBP):c.4767C>T (p.Asn1589=)
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NM_004380.3(CREBBP):c.4788C>T (p.Asn1596=)
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NM_004380.3(CREBBP):c.4806C>T (p.Arg1602=)
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NM_004380.3(CREBBP):c.4807G>A (p.Ala1603Thr)
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NM_004380.3(CREBBP):c.4835A>G (p.Asn1612Ser)
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NM_004380.3(CREBBP):c.4890+16G>A
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NM_004380.3(CREBBP):c.4947C>T (p.Ile1649=)
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NM_004380.3(CREBBP):c.5001C>T (p.Phe1667=)
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NM_004380.3(CREBBP):c.5091C>T (p.Thr1697=)
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NM_004380.3(CREBBP):c.5178C>T (p.Tyr1726=)
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NM_004380.3(CREBBP):c.5181C>T (p.Asp1727=)
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NM_004380.3(CREBBP):c.5199T>C (p.Tyr1733=)
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NM_004380.3(CREBBP):c.5264G>A (p.Ser1755Asn)
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NM_004380.3(CREBBP):c.5277A>G (p.Pro1759=)
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NM_004380.3(CREBBP):c.5628C>T (p.Asn1876=)
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NM_004380.3(CREBBP):c.5631G>A (p.Val1877=)
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NM_004380.3(CREBBP):c.5739C>T (p.Pro1913=)
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NM_004380.3(CREBBP):c.5793C>T (p.Thr1931=)
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NM_004380.3(CREBBP):c.5828C>T (p.Pro1943Leu)
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NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln)
|
rs765600316
|
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NM_004380.3(CREBBP):c.5839C>T (p.Pro1947Ser)
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NM_004380.3(CREBBP):c.5845G>A (p.Ala1949Thr)
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NM_004380.3(CREBBP):c.5878C>A (p.Arg1960=)
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NM_004380.3(CREBBP):c.5949A>G (p.Pro1983=)
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NM_004380.3(CREBBP):c.5972C>T (p.Pro1991Leu)
|
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NM_004380.3(CREBBP):c.6072G>A (p.Ala2024=)
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NM_004380.3(CREBBP):c.6137C>T (p.Ala2046Val)
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NM_004380.3(CREBBP):c.6237C>A (p.Ser2079=)
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NM_004380.3(CREBBP):c.6332A>G (p.Asn2111Ser)
|
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NM_004380.3(CREBBP):c.6357T>G (p.Pro2119=)
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NM_004380.3(CREBBP):c.6414C>G (p.Ser2138Arg)
|
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NM_004380.3(CREBBP):c.6445G>A (p.Val2149Met)
|
rs147448293
|
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NM_004380.3(CREBBP):c.6445G>T (p.Val2149Leu)
|
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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.6693C>T (p.Phe2231=)
|
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NM_004380.3(CREBBP):c.6725C>T (p.Pro2242Leu)
|
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NM_004380.3(CREBBP):c.6726G>A (p.Pro2242=)
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NM_004380.3(CREBBP):c.6732G>A (p.Met2244Ile)
|
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NM_004380.3(CREBBP):c.6786C>T (p.Gly2262=)
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NM_004380.3(CREBBP):c.6794C>T (p.Ala2265Val)
|
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NM_004380.3(CREBBP):c.6829C>T (p.Pro2277Ser)
|
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NM_004380.3(CREBBP):c.6831G>A (p.Pro2277=)
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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.712G>A (p.Val238Met)
|
rs146887252
|
|
NM_004380.3(CREBBP):c.7198T>C (p.Leu2400=)
|
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NM_004380.3(CREBBP):c.7207C>G (p.Pro2403Ala)
|
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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.7281C>T (p.Val2427=)
|
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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=)
|
|
|
NM_004380.3(CREBBP):c.753T>G (p.Thr251=)
|
rs142403441
|
|
NM_004380.3(CREBBP):c.774C>T (p.Thr258=)
|
|
|
NM_004380.3(CREBBP):c.862A>G (p.Met288Val)
|
|
|
NM_004380.3(CREBBP):c.875G>T (p.Gly292Val)
|
|
|