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_004380.3(CREBBP):c.6711C>T (p.Pro2237=)
|
rs3751845
|
0.02471
|
NM_004380.3(CREBBP):c.3900C>A (p.Ile1300=)
|
rs129974
|
0.02027
|
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_004380.3(CREBBP):c.5670C>T (p.Pro1890=)
|
rs115594471
|
0.01560
|
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_004380.3(CREBBP):c.6621A>G (p.Gln2207=)
|
rs55960450
|
0.01121
|
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu)
|
rs61731376
|
0.01088
|
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_004380.3(CREBBP):c.5454G>A (p.Val1818=)
|
rs61754523
|
0.00785
|
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile)
|
rs61753381
|
0.00715
|
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_004380.3(CREBBP):c.333C>T (p.Asn111=)
|
rs150229705
|
0.00320
|
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr)
|
rs61753380
|
0.00307
|
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser)
|
rs145733598
|
0.00287
|
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=)
|
rs148904096
|
0.00267
|
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_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_004380.3(CREBBP):c.4133+19T>C
|
rs202204380
|
0.00143
|
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_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_004380.3(CREBBP):c.895A>G (p.Ser299Gly)
|
rs149961222
|
0.00084
|
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_004380.3(CREBBP):c.4494A>G (p.Arg1498=)
|
rs149560660
|
0.00064
|
NM_004380.3(CREBBP):c.4133+9G>A
|
rs376602227
|
0.00063
|
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=)
|
rs141651423
|
0.00054
|
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_004380.3(CREBBP):c.2950A>T (p.Asn984Tyr)
|
rs140406003
|
0.00049
|
NM_004380.3(CREBBP):c.5886C>T (p.Ile1962=)
|
rs370565083
|
0.00049
|
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_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_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_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_004380.3(CREBBP):c.4251C>T (p.Tyr1417=)
|
rs61731412
|
0.00024
|
NM_004380.3(CREBBP):c.5934C>T (p.Asn1978=)
|
rs754282387
|
0.00023
|
NM_004380.3(CREBBP):c.4560+14A>G
|
rs200934101
|
0.00021
|
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_004380.3(CREBBP):c.6165C>T (p.Ser2055=)
|
rs368704484
|
0.00017
|
NM_004380.3(CREBBP):c.6340G>A (p.Gly2114Ser)
|
rs139169188
|
0.00017
|
NM_004380.3(CREBBP):c.6138G>A (p.Ala2046=)
|
rs371656213
|
0.00016
|
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_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_004380.3(CREBBP):c.3089C>T (p.Ser1030Phe)
|
rs757051244
|
0.00013
|
NM_004380.3(CREBBP):c.4280+8T>C
|
rs376814421
|
0.00013
|
NM_004380.3(CREBBP):c.5776C>G (p.Arg1926Gly)
|
rs778915687
|
0.00013
|
NM_004380.3(CREBBP):c.6444C>T (p.Gly2148=)
|
rs148539895
|
0.00013
|
NM_004380.3(CREBBP):c.6656C>T (p.Ala2219Val)
|
rs150461438
|
0.00013
|
NM_004380.3(CREBBP):c.2526G>A (p.Gln842=)
|
rs141775567
|
0.00012
|
NM_004380.3(CREBBP):c.6852C>G (p.Thr2284=)
|
rs201161108
|
0.00011
|
NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=)
|
rs190121951
|
0.00010
|
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_004380.3(CREBBP):c.164A>G (p.Asn55Ser)
|
rs587783466
|
0.00008
|
NM_004380.3(CREBBP):c.4560+9C>T
|
rs201631062
|
0.00008
|
NM_004380.3(CREBBP):c.1633T>C (p.Leu545=)
|
rs371285951
|
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_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_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_004380.3(CREBBP):c.1275T>C (p.His425=)
|
rs758886547
|
0.00004
|
NM_004380.3(CREBBP):c.2112A>G (p.Pro704=)
|
rs398124142
|
0.00004
|
NM_004380.3(CREBBP):c.2413G>A (p.Ala805Thr)
|
rs370128808
|
0.00004
|
NM_004380.3(CREBBP):c.2438C>T (p.Pro813Leu)
|
rs150767375
|
0.00004
|
NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile)
|
rs771016864
|
0.00004
|
NM_004380.3(CREBBP):c.2668A>C (p.Thr890Pro)
|
rs370012973
|
0.00004
|
NM_004380.3(CREBBP):c.3060+9C>T
|
rs372291994
|
0.00004
|
NM_004380.3(CREBBP):c.4837G>A (p.Val1613Met)
|
rs766085073
|
0.00004
|
NM_004380.3(CREBBP):c.5666C>T (p.Pro1889Leu)
|
rs143180774
|
0.00004
|
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala)
|
rs749249146
|
0.00004
|
NM_004380.3(CREBBP):c.5930T>A (p.Ile1977Asn)
|
rs754429038
|
0.00004
|
NM_004380.3(CREBBP):c.594T>C (p.Ile198=)
|
rs1376107928
|
0.00004
|
NM_004380.3(CREBBP):c.6056G>T (p.Gly2019Val)
|
rs771420935
|
0.00004
|
NM_004380.3(CREBBP):c.6433A>G (p.Met2145Val)
|
rs758386187
|
0.00004
|
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=)
|
rs750845399
|
0.00004
|
NM_004380.3(CREBBP):c.6723A>G (p.Pro2241=)
|
rs769325049
|
0.00004
|
NM_004380.3(CREBBP):c.6795G>A (p.Ala2265=)
|
rs748072121
|
0.00004
|
NM_004380.3(CREBBP):c.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_004380.3(CREBBP):c.1026A>G (p.Thr342=)
|
rs751666077
|
0.00003
|
NM_004380.3(CREBBP):c.1758C>T (p.Thr586=)
|
rs138353979
|
0.00003
|
NM_004380.3(CREBBP):c.1995A>G (p.Leu665=)
|
rs1028648371
|
0.00003
|
NM_004380.3(CREBBP):c.2141G>A (p.Arg714His)
|
rs141098117
|
0.00003
|
NM_004380.3(CREBBP):c.2400G>A (p.Pro800=)
|
rs756570921
|
0.00003
|
NM_004380.3(CREBBP):c.2570C>T (p.Pro857Leu)
|
rs766086544
|
0.00003
|
NM_004380.3(CREBBP):c.2635C>T (p.Pro879Ser)
|
rs779479811
|
0.00003
|
NM_004380.3(CREBBP):c.271G>A (p.Ala91Thr)
|
rs200673670
|
0.00003
|
NM_004380.3(CREBBP):c.271G>T (p.Ala91Ser)
|
rs200673670
|
0.00003
|
NM_004380.3(CREBBP):c.3233C>T (p.Ser1078Leu)
|
rs942848385
|
0.00003
|
NM_004380.3(CREBBP):c.4213G>A (p.Val1405Met)
|
rs140133512
|
0.00003
|
NM_004380.3(CREBBP):c.4560+7G>C
|
rs587783498
|
0.00003
|
NM_004380.3(CREBBP):c.4674A>G (p.Gln1558=)
|
rs770241645
|
0.00003
|
NM_004380.3(CREBBP):c.4948G>A (p.Val1650Ile)
|
rs776549587
|
0.00003
|
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=)
|
rs200287696
|
0.00003
|
NM_004380.3(CREBBP):c.5169C>T (p.Cys1723=)
|
rs146718571
|
0.00003
|
NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met)
|
rs760771706
|
0.00003
|
NM_004380.3(CREBBP):c.5970C>T (p.Thr1990=)
|
rs773118274
|
0.00003
|
NM_004380.3(CREBBP):c.6006G>T (p.Val2002=)
|
rs768100377
|
0.00003
|
NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val)
|
rs745551441
|
0.00003
|
NM_004380.3(CREBBP):c.6549G>A (p.Ala2183=)
|
rs1348561145
|
0.00003
|
NM_004380.3(CREBBP):c.6596A>T (p.Gln2199Leu)
|
rs765821935
|
0.00003
|
NM_004380.3(CREBBP):c.675G>A (p.Pro225=)
|
rs140708841
|
0.00003
|
NM_004380.3(CREBBP):c.701C>T (p.Ala234Val)
|
rs727503892
|
0.00003
|
NM_004380.3(CREBBP):c.7125C>T (p.His2375=)
|
rs746116315
|
0.00003
|
NM_004380.3(CREBBP):c.1331-4A>G
|
rs756291909
|
0.00002
|
NM_004380.3(CREBBP):c.1824C>G (p.Leu608=)
|
rs753242611
|
0.00002
|
NM_004380.3(CREBBP):c.2193C>T (p.Asn731=)
|
rs746813014
|
0.00002
|
NM_004380.3(CREBBP):c.2410G>A (p.Gly804Arg)
|
rs754981072
|
0.00002
|
NM_004380.3(CREBBP):c.2464-7C>G
|
rs772258017
|
0.00002
|
NM_004380.3(CREBBP):c.2482G>T (p.Ala828Ser)
|
rs779000839
|
0.00002
|
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=)
|
rs587783474
|
0.00002
|
NM_004380.3(CREBBP):c.3021G>C (p.Glu1007Asp)
|
rs774653315
|
0.00002
|
NM_004380.3(CREBBP):c.4073T>C (p.Phe1358Ser)
|
rs762638591
|
0.00002
|
NM_004380.3(CREBBP):c.4394+8T>C
|
rs750961246
|
0.00002
|
NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=)
|
rs370689343
|
0.00002
|
NM_004380.3(CREBBP):c.4812C>T (p.Asn1604=)
|
rs762565460
|
0.00002
|
NM_004380.3(CREBBP):c.5204C>T (p.Thr1735Met)
|
rs1064793090
|
0.00002
|
NM_004380.3(CREBBP):c.6658G>A (p.Gly2220Ser)
|
rs141184151
|
0.00002
|
NM_004380.3(CREBBP):c.6728C>T (p.Ala2243Val)
|
rs190153828
|
0.00002
|
NM_004380.3(CREBBP):c.7040C>T (p.Ala2347Val)
|
rs182347573
|
0.00002
|
NM_004380.3(CREBBP):c.7116G>A (p.Ser2372=)
|
rs758454751
|
0.00002
|
NM_004380.3(CREBBP):c.759C>T (p.His253=)
|
rs548980748
|
0.00002
|
NM_004380.3(CREBBP):c.105C>G (p.Asp35Glu)
|
rs372495787
|
0.00001
|
NM_004380.3(CREBBP):c.1089T>C (p.His363=)
|
rs969407052
|
0.00001
|
NM_004380.3(CREBBP):c.1331-12T>C
|
rs779542354
|
0.00001
|
NM_004380.3(CREBBP):c.1520A>G (p.Gln507Arg)
|
rs766320521
|
0.00001
|
NM_004380.3(CREBBP):c.2043C>T (p.Asn681=)
|
rs555628489
|
0.00001
|
NM_004380.3(CREBBP):c.2064G>A (p.Pro688=)
|
rs766050154
|
0.00001
|
NM_004380.3(CREBBP):c.2557C>A (p.Leu853Met)
|
rs542970560
|
0.00001
|
NM_004380.3(CREBBP):c.2626G>A (p.Gly876Arg)
|
rs746552957
|
0.00001
|
NM_004380.3(CREBBP):c.2695C>G (p.Pro899Ala)
|
rs1186080322
|
0.00001
|
NM_004380.3(CREBBP):c.275G>A (p.Ser92Asn)
|
rs746902106
|
0.00001
|
NM_004380.3(CREBBP):c.2823C>T (p.Thr941=)
|
rs762072105
|
0.00001
|
NM_004380.3(CREBBP):c.2943A>G (p.Ala981=)
|
rs1053049323
|
0.00001
|
NM_004380.3(CREBBP):c.320C>T (p.Pro107Leu)
|
rs766844540
|
0.00001
|
NM_004380.3(CREBBP):c.3252C>T (p.Ile1084=)
|
rs190925539
|
0.00001
|
NM_004380.3(CREBBP):c.3385G>A (p.Val1129Ile)
|
rs774047746
|
0.00001
|
NM_004380.3(CREBBP):c.3465C>T (p.Asp1155=)
|
rs1447337021
|
0.00001
|
NM_004380.3(CREBBP):c.3576C>G (p.Val1192=)
|
rs775872294
|
0.00001
|
NM_004380.3(CREBBP):c.3828C>T (p.Asp1276=)
|
rs745617177
|
0.00001
|
NM_004380.3(CREBBP):c.3837-18G>A
|
rs780739661
|
0.00001
|
NM_004380.3(CREBBP):c.3929A>G (p.Asn1310Ser)
|
rs558051943
|
0.00001
|
NM_004380.3(CREBBP):c.4344C>T (p.Ala1448=)
|
rs777425519
|
0.00001
|
NM_004380.3(CREBBP):c.4740C>T (p.Gly1580=)
|
rs563033919
|
0.00001
|
NM_004380.3(CREBBP):c.4890+6C>T
|
rs1567265838
|
0.00001
|
NM_004380.3(CREBBP):c.4992C>T (p.Arg1664=)
|
rs756979739
|
0.00001
|
NM_004380.3(CREBBP):c.501C>T (p.Ala167=)
|
rs376613398
|
0.00001
|
NM_004380.3(CREBBP):c.504G>A (p.Thr168=)
|
rs373310969
|
0.00001
|
NM_004380.3(CREBBP):c.5709G>A (p.Pro1903=)
|
rs773624477
|
0.00001
|
NM_004380.3(CREBBP):c.5777G>A (p.Arg1926Gln)
|
rs1370704436
|
0.00001
|
NM_004380.3(CREBBP):c.5795C>T (p.Thr1932Met)
|
rs867074201
|
0.00001
|
NM_004380.3(CREBBP):c.5796G>A (p.Thr1932=)
|
rs755609198
|
0.00001
|
NM_004380.3(CREBBP):c.5836C>G (p.Pro1946Ala)
|
rs1321085895
|
0.00001
|
NM_004380.3(CREBBP):c.5843C>T (p.Pro1948Leu)
|
rs557611780
|
0.00001
|
NM_004380.3(CREBBP):c.586A>G (p.Ser196Gly)
|
rs794727274
|
0.00001
|
NM_004380.3(CREBBP):c.6054C>T (p.Pro2018=)
|
rs768626011
|
0.00001
|
NM_004380.3(CREBBP):c.6126G>T (p.Met2042Ile)
|
rs1052723403
|
0.00001
|
NM_004380.3(CREBBP):c.6228G>A (p.Ser2076=)
|
rs759497776
|
0.00001
|
NM_004380.3(CREBBP):c.6279C>T (p.Asn2093=)
|
rs762700575
|
0.00001
|
NM_004380.3(CREBBP):c.6282G>A (p.Pro2094=)
|
rs772950054
|
0.00001
|
NM_004380.3(CREBBP):c.6449C>T (p.Pro2150Leu)
|
rs587783512
|
0.00001
|
NM_004380.3(CREBBP):c.6450G>A (p.Pro2150=)
|
rs371497730
|
0.00001
|
NM_004380.3(CREBBP):c.651C>T (p.Gly217=)
|
rs375403937
|
0.00001
|
NM_004380.3(CREBBP):c.6684C>T (p.His2228=)
|
rs138613594
|
0.00001
|
NM_004380.3(CREBBP):c.6746G>A (p.Arg2249His)
|
rs794727551
|
0.00001
|
NM_004380.3(CREBBP):c.6881G>A (p.Arg2294Gln)
|
rs1064793091
|
0.00001
|
NM_004380.3(CREBBP):c.6956A>T (p.His2319Leu)
|
rs587778215
|
0.00001
|
NM_004380.3(CREBBP):c.7178G>C (p.Ser2393Thr)
|
rs766962344
|
0.00001
|
NM_004380.3(CREBBP):c.7239C>T (p.Asn2413=)
|
rs757539209
|
0.00001
|
NM_004380.3(CREBBP):c.825A>C (p.Pro275=)
|
rs370509157
|
0.00001
|
NM_004380.3(CREBBP):c.960C>T (p.Thr320=)
|
rs898885851
|
0.00001
|
NM_004380.3(CREBBP):c.975+14G>A
|
rs535745718
|
0.00001
|
NC_000016.10:g.(?_3727698)_(3793646_?)del
|
|
|
NC_000016.10:g.(?_3727698)_(3810799_?)del
|
|
|
NC_000016.10:g.(?_3744874)_(3758992_?)del
|
|
|
NC_000016.10:g.(?_3757268)_(3757396_?)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.(?_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
|
|
|
NM_004380.3(CREBBP):c.1008C>A (p.Pro336=)
|
|
|
NM_004380.3(CREBBP):c.1032C>T (p.Pro344=)
|
rs1439239512
|
|
NM_004380.3(CREBBP):c.1043C>T (p.Pro348Leu)
|
|
|
NM_004380.3(CREBBP):c.1092T>C (p.Ala364=)
|
|
|
NM_004380.3(CREBBP):c.1095T>C (p.His365=)
|
rs565069106
|
|
NM_004380.3(CREBBP):c.1104G>A (p.Gln368=)
|
|
|
NM_004380.3(CREBBP):c.1109G>C (p.Arg370Pro)
|
rs1179677806
|
|
NM_004380.3(CREBBP):c.1119A>T (p.Ala373=)
|
|
|
NM_004380.3(CREBBP):c.1122C>T (p.Asn374=)
|
|
|
NM_004380.3(CREBBP):c.1128G>A (p.Glu376=)
|
|
|
NM_004380.3(CREBBP):c.1133G>T (p.Arg378Leu)
|
|
|
NM_004380.3(CREBBP):c.1146C>T (p.Leu382=)
|
|
|
NM_004380.3(CREBBP):c.1148C>T (p.Pro383Leu)
|
rs2053545106
|
|
NM_004380.3(CREBBP):c.1155T>C (p.Cys385=)
|
|
|
NM_004380.3(CREBBP):c.1157G>A (p.Arg386Gln)
|
|
|
NM_004380.3(CREBBP):c.1161C>T (p.Thr387=)
|
|
|
NM_004380.3(CREBBP):c.1188G>A (p.Thr396=)
|
|
|
NM_004380.3(CREBBP):c.1216+4A>G
|
|
|
NM_004380.3(CREBBP):c.1217-16G>A
|
|
|
NM_004380.3(CREBBP):c.1217-17T>C
|
|
|
NM_004380.3(CREBBP):c.1217-19G>A
|
|
|
NM_004380.3(CREBBP):c.1217-20C>T
|
|
|
NM_004380.3(CREBBP):c.1217-4A>G
|
|
|
NM_004380.3(CREBBP):c.1217-7G>A
|
rs2053519519
|
|
NM_004380.3(CREBBP):c.1217-7G>T
|
|
|
NM_004380.3(CREBBP):c.1233T>C (p.Ser411=)
|
|
|
NM_004380.3(CREBBP):c.1327C>T (p.Gln443Ter)
|
|
|
NM_004380.3(CREBBP):c.1330+16G>A
|
|
|
NM_004380.3(CREBBP):c.1331-12_1331-9del
|
rs765955245
|
|
NM_004380.3(CREBBP):c.1331-24CTGT[2]
|
|
|
NM_004380.3(CREBBP):c.1331-24CTGT[4]
|
|
|
NM_004380.3(CREBBP):c.1331-7G>A
|
|
|
NM_004380.3(CREBBP):c.1360C>T (p.Gln454Ter)
|
rs2053306001
|
|
NM_004380.3(CREBBP):c.1388_1395del (p.Gly463fs)
|
rs2053305017
|
|
NM_004380.3(CREBBP):c.1389G>A (p.Gly463=)
|
|
|
NM_004380.3(CREBBP):c.1406C>G (p.Ser469Cys)
|
|
|
NM_004380.3(CREBBP):c.140A>G (p.Asn47Ser)
|
|
|
NM_004380.3(CREBBP):c.1416C>T (p.Asn472=)
|
|
|
NM_004380.3(CREBBP):c.1447C>T (p.Arg483Ter)
|
rs1555484797
|
|
NM_004380.3(CREBBP):c.1451C>T (p.Ala484Val)
|
|
|
NM_004380.3(CREBBP):c.1455T>C (p.Tyr485=)
|
|
|
NM_004380.3(CREBBP):c.1493C>T (p.Thr498Met)
|
|
|
NM_004380.3(CREBBP):c.1500G>A (p.Leu500=)
|
|
|
NM_004380.3(CREBBP):c.1504C>T (p.Pro502Ser)
|
|
|
NM_004380.3(CREBBP):c.1519dup (p.Gln507fs)
|
|
|
NM_004380.3(CREBBP):c.1525C>T (p.Pro509Ser)
|
|
|
NM_004380.3(CREBBP):c.1534C>A (p.Pro512Thr)
|
|
|
NM_004380.3(CREBBP):c.1549C>T (p.Gln517Ter)
|
rs1596920501
|
|
NM_004380.3(CREBBP):c.1551G>A (p.Gln517=)
|
|
|
NM_004380.3(CREBBP):c.1556G>A (p.Arg519Lys)
|
|
|
NM_004380.3(CREBBP):c.1557G>A (p.Arg519=)
|
|
|
NM_004380.3(CREBBP):c.1565A>G (p.Asn522Ser)
|
|
|
NM_004380.3(CREBBP):c.1566C>T (p.Asn522=)
|
|
|
NM_004380.3(CREBBP):c.1574-14T>C
|
|
|
NM_004380.3(CREBBP):c.1574-15_1574-11del
|
|
|
NM_004380.3(CREBBP):c.1574-17C>A
|
|
|
NM_004380.3(CREBBP):c.1574-17C>G
|
|
|
NM_004380.3(CREBBP):c.1574-2A>G
|
rs2141248421
|
|
NM_004380.3(CREBBP):c.1577A>G (p.Asn526Ser)
|
|
|
NM_004380.3(CREBBP):c.1582C>G (p.Pro528Ala)
|
|
|
NM_004380.3(CREBBP):c.1594C>A (p.Pro532Thr)
|
|
|
NM_004380.3(CREBBP):c.1605A>C (p.Gly535=)
|
|
|
NM_004380.3(CREBBP):c.1612dup (p.Thr538fs)
|
|
|
NM_004380.3(CREBBP):c.1614A>G (p.Thr538=)
|
|
|
NM_004380.3(CREBBP):c.1618C>T (p.Gln540Ter)
|
rs398124138
|
|
NM_004380.3(CREBBP):c.1636A>G (p.Ile546Val)
|
|
|
NM_004380.3(CREBBP):c.1655C>A (p.Pro552Gln)
|
|
|
NM_004380.3(CREBBP):c.1656G>A (p.Pro552=)
|
|
|
NM_004380.3(CREBBP):c.165C>A (p.Asn55Lys)
|
|
|
NM_004380.3(CREBBP):c.1663del (p.Leu555fs)
|
rs2053266530
|
|
NM_004380.3(CREBBP):c.1665G>T (p.Leu555=)
|
|
|
NM_004380.3(CREBBP):c.1676+11G>C
|
|
|
NM_004380.3(CREBBP):c.1676+13_1676+14insA
|
|
|
NM_004380.3(CREBBP):c.1676+9C>T
|
|
|
NM_004380.3(CREBBP):c.1677-13A>G
|
|
|
NM_004380.3(CREBBP):c.1677-18T>C
|
|
|
NM_004380.3(CREBBP):c.1677-4T>G
|
|
|
NM_004380.3(CREBBP):c.1678C>A (p.Pro560Thr)
|
|
|
NM_004380.3(CREBBP):c.1679C>A (p.Pro560Gln)
|
|
|
NM_004380.3(CREBBP):c.172A>T (p.Asn58Tyr)
|
|
|
NM_004380.3(CREBBP):c.1750T>C (p.Ser584Pro)
|
|
|
NM_004380.3(CREBBP):c.1759G>A (p.Gly587Ser)
|
|
|
NM_004380.3(CREBBP):c.175C>T (p.Leu59Phe)
|
|
|
NM_004380.3(CREBBP):c.1779C>T (p.His593=)
|
|
|
NM_004380.3(CREBBP):c.181C>A (p.Pro61Thr)
|
|
|
NM_004380.3(CREBBP):c.1824-19_1824-16del
|
|
|
NM_004380.3(CREBBP):c.1853C>G (p.Pro618Arg)
|
|
|
NM_004380.3(CREBBP):c.1855dup (p.Ala619fs)
|
rs1596909915
|
|
NM_004380.3(CREBBP):c.189T>C (p.Ala63=)
|
|
|
NM_004380.3(CREBBP):c.1917dup (p.Met640fs)
|
rs1567306142
|
|
NM_004380.3(CREBBP):c.1923C>T (p.Tyr641=)
|
|
|
NM_004380.3(CREBBP):c.1925A>G (p.Glu642Gly)
|
|
|
NM_004380.3(CREBBP):c.1934A>G (p.Asn645Ser)
|
|
|
NM_004380.3(CREBBP):c.1935C>T (p.Asn645=)
|
|
|
NM_004380.3(CREBBP):c.1941+11G>A
|
|
|
NM_004380.3(CREBBP):c.1941+18G>A
|
|
|
NM_004380.3(CREBBP):c.1941+1G>A
|
rs1555483834
|
|
NM_004380.3(CREBBP):c.1941+4G>C
|
|
|
NM_004380.3(CREBBP):c.1941+5G>A
|
rs2053202354
|
|
NM_004380.3(CREBBP):c.1941+8G>T
|
|
|
NM_004380.3(CREBBP):c.1941G>A (p.Arg647=)
|
|
|
NM_004380.3(CREBBP):c.1942-11T>C
|
|
|
NM_004380.3(CREBBP):c.1942-13T>C
|
|
|
NM_004380.3(CREBBP):c.1942-17A>G
|
|
|
NM_004380.3(CREBBP):c.1942-5T>C
|
rs1482514446
|
|
NM_004380.3(CREBBP):c.1984C>A (p.Gln662Lys)
|
|
|
NM_004380.3(CREBBP):c.1986A>G (p.Gln662=)
|
|
|
NM_004380.3(CREBBP):c.2005_2006delinsT (p.Lys668_Arg669insTer)
|
rs1596908213
|
|
NM_004380.3(CREBBP):c.2013G>A (p.Ser671=)
|
|
|
NM_004380.3(CREBBP):c.201_202del (p.His67fs)
|
|
|
NM_004380.3(CREBBP):c.2031C>T (p.Gly677=)
|
|
|
NM_004380.3(CREBBP):c.204A>G (p.Lys68=)
|
|
|
NM_004380.3(CREBBP):c.2056C>A (p.Pro686Thr)
|
|
|
NM_004380.3(CREBBP):c.2062C>G (p.Pro688Ala)
|
|
|
NM_004380.3(CREBBP):c.2068G>T (p.Ala690Ser)
|
rs531539047
|
|
NM_004380.3(CREBBP):c.2077C>G (p.Pro693Ala)
|
|
|
NM_004380.3(CREBBP):c.2098C>T (p.Pro700Ser)
|
|
|
NM_004380.3(CREBBP):c.2113+11T>C
|
|
|
NM_004380.3(CREBBP):c.2113+13T>C
|
|
|
NM_004380.3(CREBBP):c.2113+19A>G
|
|
|
NM_004380.3(CREBBP):c.2113+20C>T
|
|
|
NM_004380.3(CREBBP):c.2113+3A>G
|
|
|
NM_004380.3(CREBBP):c.2114-14T>C
|
|
|
NM_004380.3(CREBBP):c.2114-5C>A
|
|
|
NM_004380.3(CREBBP):c.2119C>T (p.Pro707Ser)
|
|
|
NM_004380.3(CREBBP):c.2138A>G (p.Asn713Ser)
|
|
|
NM_004380.3(CREBBP):c.213G>A (p.Ser71=)
|
|
|
NM_004380.3(CREBBP):c.2141G>T (p.Arg714Leu)
|
rs141098117
|
|
NM_004380.3(CREBBP):c.2158+14T>C
|
|
|
NM_004380.3(CREBBP):c.2158+18G>A
|
|
|
NM_004380.3(CREBBP):c.2158+19T>C
|
|
|
NM_004380.3(CREBBP):c.2159-12G>A
|
|
|
NM_004380.3(CREBBP):c.2159-15T>C
|
|
|
NM_004380.3(CREBBP):c.2159-19G>A
|
|
|
NM_004380.3(CREBBP):c.2159-20C>T
|
|
|
NM_004380.3(CREBBP):c.2167T>G (p.Ser723Ala)
|
|
|
NM_004380.3(CREBBP):c.2169A>T (p.Ser723=)
|
|
|
NM_004380.3(CREBBP):c.2177C>A (p.Pro726His)
|
|
|
NM_004380.3(CREBBP):c.2179A>G (p.Met727Val)
|
|
|
NM_004380.3(CREBBP):c.2181G>T (p.Met727Ile)
|
|
|
NM_004380.3(CREBBP):c.2194G>A (p.Val732Ile)
|
|
|
NM_004380.3(CREBBP):c.2224C>T (p.Arg742Cys)
|
|
|
NM_004380.3(CREBBP):c.222A>G (p.Leu74=)
|
|
|
NM_004380.3(CREBBP):c.2233del (p.Ser745fs)
|
rs2053092574
|
|
NM_004380.3(CREBBP):c.225A>C (p.Arg75=)
|
|
|
NM_004380.3(CREBBP):c.2264G>A (p.Ser755Asn)
|
|
|
NM_004380.3(CREBBP):c.2283+11T>C
|
|
|
NM_004380.3(CREBBP):c.2283+16C>T
|
|
|
NM_004380.3(CREBBP):c.2283+18C>G
|
|
|
NM_004380.3(CREBBP):c.2283+1G>T
|
|
|
NM_004380.3(CREBBP):c.2284-5C>T
|
|
|
NM_004380.3(CREBBP):c.2284-7C>T
|
|
|
NM_004380.3(CREBBP):c.2287G>T (p.Ala763Ser)
|
|
|
NM_004380.3(CREBBP):c.2302C>T (p.Arg768Ter)
|
rs1057520652
|
|
NM_004380.3(CREBBP):c.2303G>A (p.Arg768Gln)
|
rs754386072
|
|
NM_004380.3(CREBBP):c.2306T>A (p.Met769Lys)
|
|
|
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg)
|
rs147805823
|
|
NM_004380.3(CREBBP):c.2322del (p.Asn774fs)
|
rs1596895545
|
|
NM_004380.3(CREBBP):c.2323A>G (p.Met775Val)
|
rs990281677
|
|
NM_004380.3(CREBBP):c.2339C>A (p.Thr780Asn)
|
|
|
NM_004380.3(CREBBP):c.2347A>G (p.Met783Val)
|
|
|
NM_004380.3(CREBBP):c.2347A>T (p.Met783Leu)
|
|
|
NM_004380.3(CREBBP):c.2348T>G (p.Met783Arg)
|
|
|
NM_004380.3(CREBBP):c.2349G>C (p.Met783Ile)
|
|
|
NM_004380.3(CREBBP):c.234C>T (p.Ser78=)
|
|
|
NM_004380.3(CREBBP):c.2355_2366del (p.Ala787_Gln790del)
|
rs755265819
|
|
NM_004380.3(CREBBP):c.235G>A (p.Gly79Ser)
|
|
|
NM_004380.3(CREBBP):c.2360C>T (p.Ala787Val)
|
|
|
NM_004380.3(CREBBP):c.2361G>A (p.Ala787=)
|
|
|
NM_004380.3(CREBBP):c.2388G>A (p.Gln796=)
|
|
|
NM_004380.3(CREBBP):c.2415G>C (p.Ala805=)
|
|
|
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr)
|
rs750178517
|
|
NM_004380.3(CREBBP):c.2441C>G (p.Pro814Arg)
|
|
|
NM_004380.3(CREBBP):c.2450C>T (p.Thr817Ile)
|
|
|
NM_004380.3(CREBBP):c.2463+17G>A
|
|
|
NM_004380.3(CREBBP):c.2463+4C>T
|
|
|
NM_004380.3(CREBBP):c.2464-17_2464-16del
|
|
|
NM_004380.3(CREBBP):c.2464-19C>G
|
|
|
NM_004380.3(CREBBP):c.2464-1G>A
|
rs2052993075
|
|
NM_004380.3(CREBBP):c.2464-6T>A
|
rs2052993184
|
|
NM_004380.3(CREBBP):c.2466A>G (p.Gly822=)
|
|
|
NM_004380.3(CREBBP):c.246C>T (p.Ile82=)
|
|
|
NM_004380.3(CREBBP):c.248A>C (p.Asn83Thr)
|
|
|
NM_004380.3(CREBBP):c.2497C>T (p.Leu833Phe)
|
|
|
NM_004380.3(CREBBP):c.24A>G (p.Gly8=)
|
|
|
NM_004380.3(CREBBP):c.2501A>G (p.Asn834Ser)
|
|
|
NM_004380.3(CREBBP):c.2502C>T (p.Asn834=)
|
|
|
NM_004380.3(CREBBP):c.250C>A (p.Pro84Thr)
|
rs770952413
|
|
NM_004380.3(CREBBP):c.2511G>T (p.Gly837=)
|
|
|
NM_004380.3(CREBBP):c.2512C>A (p.Pro838Thr)
|
|
|
NM_004380.3(CREBBP):c.2523C>T (p.Ser841=)
|
|
|
NM_004380.3(CREBBP):c.2526_2529dup (p.Pro844fs)
|
|
|
NM_004380.3(CREBBP):c.2527C>G (p.Leu843Val)
|
|
|
NM_004380.3(CREBBP):c.2528T>C (p.Leu843Pro)
|
|
|
NM_004380.3(CREBBP):c.252A>G (p.Pro84=)
|
rs727503893
|
|
NM_004380.3(CREBBP):c.2537C>G (p.Pro846Arg)
|
|
|
NM_004380.3(CREBBP):c.2537C>T (p.Pro846Leu)
|
|
|
NM_004380.3(CREBBP):c.2556A>G (p.Pro852=)
|
|
|
NM_004380.3(CREBBP):c.255A>G (p.Gly85=)
|
|
|
NM_004380.3(CREBBP):c.2561A>C (p.His854Pro)
|
|
|
NM_004380.3(CREBBP):c.2571G>A (p.Pro857=)
|
|
|
NM_004380.3(CREBBP):c.2571G>T (p.Pro857=)
|
|
|
NM_004380.3(CREBBP):c.2574dup (p.Pro859fs)
|
rs2141203402
|
|
NM_004380.3(CREBBP):c.2585C>T (p.Thr862Met)
|
|
|
NM_004380.3(CREBBP):c.258A>G (p.Ile86Met)
|
rs2054819160
|
|
NM_004380.3(CREBBP):c.2596A>G (p.Met866Val)
|
|
|
NM_004380.3(CREBBP):c.2601A>G (p.Pro867=)
|
|
|
NM_004380.3(CREBBP):c.2638C>T (p.Pro880Ser)
|
|
|
NM_004380.3(CREBBP):c.2643G>C (p.Gln881His)
|
|
|
NM_004380.3(CREBBP):c.2644C>T (p.Pro882Ser)
|
|
|
NM_004380.3(CREBBP):c.2663C>T (p.Pro888Leu)
|
|
|
NM_004380.3(CREBBP):c.2664A>G (p.Pro888=)
|
|
|
NM_004380.3(CREBBP):c.2697C>T (p.Pro899=)
|
rs747968181
|
|
NM_004380.3(CREBBP):c.2702C>T (p.Pro901Leu)
|
|
|
NM_004380.3(CREBBP):c.2703G>A (p.Pro901=)
|
|
|
NM_004380.3(CREBBP):c.270C>T (p.Ser90=)
|
|
|
NM_004380.3(CREBBP):c.2712C>G (p.Gly904=)
|
|
|
NM_004380.3(CREBBP):c.2715A>G (p.Ser905=)
|
|
|
NM_004380.3(CREBBP):c.2716G>C (p.Val906Leu)
|
|
|
NM_004380.3(CREBBP):c.2726C>G (p.Ala909Gly)
|
|
|
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)
|
rs143247685
|
|
NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser)
|
rs143247685
|
|
NM_004380.3(CREBBP):c.273C>T (p.Ala91=)
|
|
|
NM_004380.3(CREBBP):c.2744C>T (p.Thr915Ile)
|
|
|
NM_004380.3(CREBBP):c.274A>G (p.Ser92Gly)
|
|
|
NM_004380.3(CREBBP):c.2750C>T (p.Thr917Ile)
|
|
|
NM_004380.3(CREBBP):c.2755C>T (p.Gln919Ter)
|
rs1596886183
|
|
NM_004380.3(CREBBP):c.2765C>A (p.Ala922Asp)
|
|
|
NM_004380.3(CREBBP):c.2778G>T (p.Val926=)
|
|
|
NM_004380.3(CREBBP):c.2783C>T (p.Pro928Leu)
|
|
|
NM_004380.3(CREBBP):c.2788C>T (p.Pro930Ser)
|
|
|
NM_004380.3(CREBBP):c.278G>A (p.Ser93Asn)
|
|
|
NM_004380.3(CREBBP):c.2794del (p.Thr932fs)
|
rs2052980008
|
|
NM_004380.3(CREBBP):c.2803C>T (p.Gln935Ter)
|
|
|
NM_004380.3(CREBBP):c.2806_2811del (p.Pro936_Pro937del)
|
rs2141199443
|
|
NM_004380.3(CREBBP):c.2828A>G (p.Gln943Arg)
|
|
|
NM_004380.3(CREBBP):c.282C>T (p.Pro94=)
|
|
|
NM_004380.3(CREBBP):c.2830T>C (p.Ser944Pro)
|
|
|
NM_004380.3(CREBBP):c.2836C>T (p.Gln946Ter)
|
|
|
NM_004380.3(CREBBP):c.283G>A (p.Val95Met)
|
rs756802946
|
|
NM_004380.3(CREBBP):c.2847G>A (p.Pro949=)
|
|
|
NM_004380.3(CREBBP):c.2849C>A (p.Thr950Lys)
|
|
|
NM_004380.3(CREBBP):c.2851C>A (p.Pro951Thr)
|
|
|
NM_004380.3(CREBBP):c.2852C>T (p.Pro951Leu)
|
|
|
NM_004380.3(CREBBP):c.2853T>C (p.Pro951=)
|
|
|
NM_004380.3(CREBBP):c.2854G>T (p.Val952Leu)
|
|
|
NM_004380.3(CREBBP):c.2880+17_2880+18del
|
|
|
NM_004380.3(CREBBP):c.2881-13G>A
|
rs751913060
|
|
NM_004380.3(CREBBP):c.2881-14C>G
|
|
|
NM_004380.3(CREBBP):c.2881-14C>T
|
|
|
NM_004380.3(CREBBP):c.2881-17T>C
|
|
|
NM_004380.3(CREBBP):c.2881-18C>A
|
|
|
NM_004380.3(CREBBP):c.2881-4A>G
|
|
|
NM_004380.3(CREBBP):c.288G>A (p.Gln96=)
|
|
|
NM_004380.3(CREBBP):c.2903T>C (p.Ile968Thr)
|
rs147795744
|
|
NM_004380.3(CREBBP):c.2917C>A (p.Pro973Thr)
|
|
|
NM_004380.3(CREBBP):c.2924C>T (p.Pro975Leu)
|
|
|
NM_004380.3(CREBBP):c.2928C>T (p.Ser976=)
|
|
|
NM_004380.3(CREBBP):c.2934G>T (p.Val978=)
|
|
|
NM_004380.3(CREBBP):c.2942C>T (p.Ala981Val)
|
|
|
NM_004380.3(CREBBP):c.2951A>G (p.Asn984Ser)
|
|
|
NM_004380.3(CREBBP):c.2977C>T (p.Pro993Ser)
|
rs886042430
|
|
NM_004380.3(CREBBP):c.2980G>A (p.Val994Met)
|
|
|
NM_004380.3(CREBBP):c.2992A>G (p.Lys998Glu)
|
|
|
NM_004380.3(CREBBP):c.2995A>G (p.Thr999Ala)
|
|
|
NM_004380.3(CREBBP):c.2996C>T (p.Thr999Met)
|
|
|
NM_004380.3(CREBBP):c.3003C>T (p.Thr1001=)
|
|
|
NM_004380.3(CREBBP):c.3008C>G (p.Ala1003Gly)
|
|
|
NM_004380.3(CREBBP):c.3025G>A (p.Asp1009Asn)
|
|
|
NM_004380.3(CREBBP):c.3025G>T (p.Asp1009Tyr)
|
|
|
NM_004380.3(CREBBP):c.3036A>T (p.Glu1012Asp)
|
|
|
NM_004380.3(CREBBP):c.3044_3046del (p.Gly1015del)
|
|
|
NM_004380.3(CREBBP):c.3061-12G>A
|
|
|
NM_004380.3(CREBBP):c.3061-19C>G
|
|
|
NM_004380.3(CREBBP):c.3061-6C>G
|
|
|
NM_004380.3(CREBBP):c.3099_3102del (p.Glu1034fs)
|
|
|
NM_004380.3(CREBBP):c.309T>C (p.Ala103=)
|
|
|
NM_004380.3(CREBBP):c.3129A>G (p.Ser1043=)
|
|
|
NM_004380.3(CREBBP):c.3133C>G (p.Pro1045Ala)
|
|
|
NM_004380.3(CREBBP):c.314_315del (p.Gly105fs)
|
rs1597054430
|
|
NM_004380.3(CREBBP):c.3151A>G (p.Lys1051Glu)
|
|
|
NM_004380.3(CREBBP):c.3161A>G (p.Glu1054Gly)
|
|
|
NM_004380.3(CREBBP):c.3175G>C (p.Val1059Leu)
|
|
|
NM_004380.3(CREBBP):c.3178_3183del (p.Lys1060_Glu1061del)
|
|
|
NM_004380.3(CREBBP):c.3185A>C (p.Glu1062Ala)
|
|
|
NM_004380.3(CREBBP):c.318G>C (p.Gln106His)
|
|
|
NM_004380.3(CREBBP):c.318G>T (p.Gln106His)
|
|
|
NM_004380.3(CREBBP):c.3200G>A (p.Ser1067Asn)
|
|
|
NM_004380.3(CREBBP):c.3205G>A (p.Gly1069Ser)
|
|
|
NM_004380.3(CREBBP):c.3205G>T (p.Gly1069Cys)
|
rs555109138
|
|
NM_004380.3(CREBBP):c.3208A>C (p.Thr1070Pro)
|
|
|
NM_004380.3(CREBBP):c.320C>G (p.Pro107Arg)
|
rs766844540
|
|
NM_004380.3(CREBBP):c.3212C>T (p.Ala1071Val)
|
|
|
NM_004380.3(CREBBP):c.3214T>G (p.Ser1072Ala)
|
|
|
NM_004380.3(CREBBP):c.3219G>A (p.Gln1073=)
|
|
|
NM_004380.3(CREBBP):c.3223A>G (p.Thr1075Ala)
|
|
|
NM_004380.3(CREBBP):c.3234G>T (p.Ser1078=)
|
|
|
NM_004380.3(CREBBP):c.3235C>T (p.Gln1079Ter)
|
|
|
NM_004380.3(CREBBP):c.3238C>G (p.Pro1080Ala)
|
|
|
NM_004380.3(CREBBP):c.323A>G (p.Asn108Ser)
|
|
|
NM_004380.3(CREBBP):c.3240G>A (p.Pro1080=)
|
|
|
NM_004380.3(CREBBP):c.3242G>A (p.Arg1081His)
|
|
|
NM_004380.3(CREBBP):c.3248_3250+4del
|
|
|
NM_004380.3(CREBBP):c.3250+11T>C
|
|
|
NM_004380.3(CREBBP):c.3250+15C>T
|
|
|
NM_004380.3(CREBBP):c.3250+16A>T
|
|
|
NM_004380.3(CREBBP):c.3250+4G>A
|
|
|
NM_004380.3(CREBBP):c.3250A>C (p.Ile1084Leu)
|
|
|
NM_004380.3(CREBBP):c.3250A>T (p.Ile1084Phe)
|
|
|
NM_004380.3(CREBBP):c.3251-13G>A
|
|
|
NM_004380.3(CREBBP):c.3251-19C>T
|
|
|
NM_004380.3(CREBBP):c.3251-8C>G
|
|
|
NM_004380.3(CREBBP):c.326G>A (p.Ser109Asn)
|
|
|
NM_004380.3(CREBBP):c.3287C>T (p.Pro1096Leu)
|
|
|
NM_004380.3(CREBBP):c.32A>G (p.Asn11Ser)
|
|
|
NM_004380.3(CREBBP):c.3307C>T (p.Arg1103Ter)
|
|
|
NM_004380.3(CREBBP):c.3336G>A (p.Arg1112=)
|
|
|
NM_004380.3(CREBBP):c.3360C>T (p.Leu1120=)
|
|
|
NM_004380.3(CREBBP):c.3369+1G>A
|
rs587783480
|
|
NM_004380.3(CREBBP):c.3370-10T>A
|
|
|
NM_004380.3(CREBBP):c.3370-16dup
|
rs75459669
|
|
NM_004380.3(CREBBP):c.3370-18C>A
|
|
|
NM_004380.3(CREBBP):c.3370-4del
|
rs75459669
|
|
NM_004380.3(CREBBP):c.3370-5_3370-4del
|
rs75459669
|
|
NM_004380.3(CREBBP):c.3375T>G (p.Tyr1125Ter)
|
|
|
NM_004380.3(CREBBP):c.3384C>T (p.Ile1128=)
|
|
|
NM_004380.3(CREBBP):c.3410C>G (p.Thr1137Ser)
|
|
|
NM_004380.3(CREBBP):c.3425T>C (p.Leu1142Pro)
|
rs2151383792
|
|
NM_004380.3(CREBBP):c.3438A>G (p.Gln1146=)
|
|
|
NM_004380.3(CREBBP):c.3459C>T (p.Tyr1153=)
|
|
|
NM_004380.3(CREBBP):c.3465C>A (p.Asp1155Glu)
|
|
|
NM_004380.3(CREBBP):c.3468C>T (p.Asp1156=)
|
|
|
NM_004380.3(CREBBP):c.3469G>C (p.Val1157Leu)
|
|
|
NM_004380.3(CREBBP):c.346A>G (p.Ser116Gly)
|
rs587778211
|
|
NM_004380.3(CREBBP):c.3473G>C (p.Trp1158Ser)
|
|
|
NM_004380.3(CREBBP):c.3494_3497dup (p.Tyr1167fs)
|
|
|
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys)
|
rs587783481
|
|
NM_004380.3(CREBBP):c.3506G>A (p.Arg1169His)
|
|
|
NM_004380.3(CREBBP):c.3507C>G (p.Arg1169=)
|
|
|
NM_004380.3(CREBBP):c.3516C>T (p.Ser1172=)
|
rs2151383343
|
|
NM_004380.3(CREBBP):c.351C>T (p.Ala117=)
|
|
|
NM_004380.3(CREBBP):c.3531T>C (p.Phe1177=)
|
|
|
NM_004380.3(CREBBP):c.3573T>C (p.Pro1191=)
|
rs536159666
|
|
NM_004380.3(CREBBP):c.3591A>T (p.Gly1197=)
|
|
|
NM_004380.3(CREBBP):c.3609+20C>T
|
|
|
NM_004380.3(CREBBP):c.3610-14C>T
|
|
|
NM_004380.3(CREBBP):c.3610-1G>A
|
rs1596852670
|
|
NM_004380.3(CREBBP):c.3615G>A (p.Glu1205=)
|
|
|
NM_004380.3(CREBBP):c.3629C>G (p.Thr1210Ser)
|
|
|
NM_004380.3(CREBBP):c.3634_3638del (p.Cys1212fs)
|
rs2052610724
|
|
NM_004380.3(CREBBP):c.3639C>T (p.Cys1213=)
|
|
|
NM_004380.3(CREBBP):c.363C>A (p.Ser121Arg)
|
|
|
NM_004380.3(CREBBP):c.3667C>T (p.Arg1223Cys)
|
|
|
NM_004380.3(CREBBP):c.3673G>A (p.Ala1225Thr)
|
rs2052609627
|
|
NM_004380.3(CREBBP):c.3676del (p.Ala1226fs)
|
rs2151381815
|
|
NM_004380.3(CREBBP):c.3698+11A>G
|
|
|
NM_004380.3(CREBBP):c.3698+6C>T
|
|
|
NM_004380.3(CREBBP):c.3706T>A (p.Phe1236Ile)
|
|
|
NM_004380.3(CREBBP):c.3708C>T (p.Phe1236=)
|
|
|
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr)
|
rs1596839714
|
|
NM_004380.3(CREBBP):c.3729G>A (p.Glu1243=)
|
|
|
NM_004380.3(CREBBP):c.3729G>C (p.Glu1243Asp)
|
|
|
NM_004380.3(CREBBP):c.3738C>T (p.Gly1246=)
|
|
|
NM_004380.3(CREBBP):c.3748_3749dup (p.Leu1251fs)
|
|
|
NM_004380.3(CREBBP):c.3759C>T (p.Asp1253=)
|
|
|
NM_004380.3(CREBBP):c.375G>A (p.Gln125=)
|
|
|
NM_004380.3(CREBBP):c.3760G>A (p.Asp1254Asn)
|
|
|
NM_004380.3(CREBBP):c.3765T>G (p.Pro1255=)
|
|
|
NM_004380.3(CREBBP):c.3771G>T (p.Gln1257His)
|
|
|
NM_004380.3(CREBBP):c.3779+10G>A
|
|
|
NM_004380.3(CREBBP):c.3779+1G>T
|
rs587783483
|
|
NM_004380.3(CREBBP):c.3780-12T>C
|
|
|
NM_004380.3(CREBBP):c.3782C>A (p.Thr1261Lys)
|
|
|
NM_004380.3(CREBBP):c.3804A>G (p.Glu1268=)
|
|
|
NM_004380.3(CREBBP):c.381TTC[1] (p.Ser129del)
|
|
|
NM_004380.3(CREBBP):c.382T>C (p.Ser128Pro)
|
|
|
NM_004380.3(CREBBP):c.3836+15A>G
|
|
|
NM_004380.3(CREBBP):c.3836+1G>A
|
rs200782888
|
|
NM_004380.3(CREBBP):c.3836+1G>C
|
rs200782888
|
|
NM_004380.3(CREBBP):c.3837-19C>T
|
|
|
NM_004380.3(CREBBP):c.3839T>G (p.Phe1280Cys)
|
rs2151355973
|
|
NM_004380.3(CREBBP):c.3841G>T (p.Val1281Phe)
|
|
|
NM_004380.3(CREBBP):c.3844G>A (p.Asp1282Asn)
|
|
|
NM_004380.3(CREBBP):c.3883G>A (p.Val1295Ile)
|
|
|
NM_004380.3(CREBBP):c.390C>T (p.Ala130=)
|
|
|
NM_004380.3(CREBBP):c.3914+11T>A
|
|
|
NM_004380.3(CREBBP):c.3914+11T>G
|
|
|
NM_004380.3(CREBBP):c.3914+13C>T
|
|
|
NM_004380.3(CREBBP):c.3914+17_3914+32del
|
|
|
NM_004380.3(CREBBP):c.3914+20C>T
|
|
|
NM_004380.3(CREBBP):c.3915-15A>G
|
|
|
NM_004380.3(CREBBP):c.3915-20A>C
|
|
|
NM_004380.3(CREBBP):c.3918T>C (p.Phe1306=)
|
|
|
NM_004380.3(CREBBP):c.3920T>C (p.Val1307Ala)
|
rs2151354200
|
|
NM_004380.3(CREBBP):c.3924C>T (p.Cys1308=)
|
|
|
NM_004380.3(CREBBP):c.3925G>A (p.Asp1309Asn)
|
|
|
NM_004380.3(CREBBP):c.3930C>T (p.Asn1310=)
|
|
|
NM_004380.3(CREBBP):c.3934T>G (p.Leu1312Val)
|
|
|
NM_004380.3(CREBBP):c.3946G>A (p.Gly1316Ser)
|
|
|
NM_004380.3(CREBBP):c.395G>A (p.Ser132Asn)
|
|
|
NM_004380.3(CREBBP):c.3973A>C (p.Ser1325Arg)
|
|
|
NM_004380.3(CREBBP):c.3977del (p.Ala1326fs)
|
rs1567276741
|
|
NM_004380.3(CREBBP):c.3978T>C (p.Ala1326=)
|
rs2151353919
|
|
NM_004380.3(CREBBP):c.3982+14A>C
|
|
|
NM_004380.3(CREBBP):c.3982+15del
|
|
|
NM_004380.3(CREBBP):c.3982+19T>C
|
|
|
NM_004380.3(CREBBP):c.3983-17C>G
|
|
|
NM_004380.3(CREBBP):c.3983-4del
|
|
|
NM_004380.3(CREBBP):c.3983-7T>C
|
|
|
NM_004380.3(CREBBP):c.4011C>T (p.His1337=)
|
|
|
NM_004380.3(CREBBP):c.4043G>A (p.Arg1348His)
|
|
|
NM_004380.3(CREBBP):c.4062C>T (p.Ala1354=)
|
|
|
NM_004380.3(CREBBP):c.4063G>A (p.Gly1355Arg)
|
|
|
NM_004380.3(CREBBP):c.4068G>A (p.Glu1356=)
|
|
|
NM_004380.3(CREBBP):c.4090A>G (p.Ser1364Gly)
|
|
|
NM_004380.3(CREBBP):c.4104G>A (p.Thr1368=)
|
|
|
NM_004380.3(CREBBP):c.4110G>A (p.Glu1370=)
|
|
|
NM_004380.3(CREBBP):c.4119C>G (p.Pro1373=)
|
|
|
NM_004380.3(CREBBP):c.412G>A (p.Ala138Thr)
|
|
|
NM_004380.3(CREBBP):c.4133+20A>G
|
|
|
NM_004380.3(CREBBP):c.4133+6TG[4]
|
|
|
NM_004380.3(CREBBP):c.4133+7G>A
|
|
|
NM_004380.3(CREBBP):c.413C>G (p.Ala138Gly)
|
|
|
NM_004380.3(CREBBP):c.4158T>A (p.Ser1386=)
|
|
|
NM_004380.3(CREBBP):c.4161A>G (p.Glu1387=)
|
|
|
NM_004380.3(CREBBP):c.4170A>G (p.Pro1390=)
|
|
|
NM_004380.3(CREBBP):c.4185T>C (p.Ala1395=)
|
|
|
NM_004380.3(CREBBP):c.4210G>A (p.Gly1404Ser)
|
|
|
NM_004380.3(CREBBP):c.4216G>T (p.Asp1406Tyr)
|
rs2052153254
|
|
NM_004380.3(CREBBP):c.4230dup (p.Gly1411fs)
|
rs1555473668
|
|
NM_004380.3(CREBBP):c.4232del (p.Gly1411fs)
|
|
|
NM_004380.3(CREBBP):c.4240G>A (p.Val1414Ile)
|
|
|
NM_004380.3(CREBBP):c.4252G>A (p.Gly1418Ser)
|
|
|
NM_004380.3(CREBBP):c.4263C>T (p.Cys1421=)
|
|
|
NM_004380.3(CREBBP):c.4266C>G (p.Pro1422=)
|
|
|
NM_004380.3(CREBBP):c.4277C>T (p.Thr1426Met)
|
|
|
NM_004380.3(CREBBP):c.4278G>A (p.Thr1426=)
|
|
|
NM_004380.3(CREBBP):c.4280+20del
|
|
|
NM_004380.3(CREBBP):c.4281-19A>G
|
|
|
NM_004380.3(CREBBP):c.4296T>G (p.Ser1432=)
|
|
|
NM_004380.3(CREBBP):c.4299T>C (p.Tyr1433=)
|
|
|
NM_004380.3(CREBBP):c.4311T>A (p.Ile1437=)
|
|
|
NM_004380.3(CREBBP):c.431C>T (p.Thr144Ile)
|
|
|
NM_004380.3(CREBBP):c.4321C>T (p.Arg1441Trp)
|
|
|
NM_004380.3(CREBBP):c.4329T>A (p.Arg1443=)
|
|
|
NM_004380.3(CREBBP):c.432C>T (p.Thr144=)
|
|
|
NM_004380.3(CREBBP):c.4332C>T (p.Cys1444=)
|
|
|
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)
|
rs398124146
|
|
NM_004380.3(CREBBP):c.4340C>T (p.Thr1447Ile)
|
rs2151334254
|
|
NM_004380.3(CREBBP):c.435C>G (p.Pro145=)
|
|
|
NM_004380.3(CREBBP):c.4364T>G (p.Ile1455Ser)
|
|
|
NM_004380.3(CREBBP):c.436G>A (p.Ala146Thr)
|
|
|
NM_004380.3(CREBBP):c.4371T>C (p.Tyr1457=)
|
|
|
NM_004380.3(CREBBP):c.4392A>G (p.Leu1464=)
|
|
|
NM_004380.3(CREBBP):c.4394+3G>A
|
|
|
NM_004380.3(CREBBP):c.4394+5G>C
|
|
|
NM_004380.3(CREBBP):c.4394+9G>C
|
|
|
NM_004380.3(CREBBP):c.4394G>A (p.Gly1465Glu)
|
rs1555473491
|
|
NM_004380.3(CREBBP):c.4395-13G>T
|
rs761012080
|
|
NM_004380.3(CREBBP):c.4395-14C>T
|
|
|
NM_004380.3(CREBBP):c.4395-2A>C
|
rs2151330226
|
|
NM_004380.3(CREBBP):c.4395-6C>T
|
rs2151330246
|
|
NM_004380.3(CREBBP):c.4397A>T (p.Tyr1466Phe)
|
|
|
NM_004380.3(CREBBP):c.4404dup (p.Gly1469fs)
|
rs2052073167
|
|
NM_004380.3(CREBBP):c.4409A>C (p.His1470Pro)
|
|
|
NM_004380.3(CREBBP):c.4421_4422delinsTC (p.Cys1474Phe)
|
rs1555473126
|
|
NM_004380.3(CREBBP):c.4438GAT[1] (p.Asp1481del)
|
|
|
NM_004380.3(CREBBP):c.4440T>C (p.Asp1480=)
|
|
|
NM_004380.3(CREBBP):c.444C>G (p.Ser148=)
|
|
|
NM_004380.3(CREBBP):c.4452C>T (p.Phe1484=)
|
|
|
NM_004380.3(CREBBP):c.4457_4458del (p.Cys1486fs)
|
|
|
NM_004380.3(CREBBP):c.4465C>A (p.Pro1489Thr)
|
|
|
NM_004380.3(CREBBP):c.4465C>G (p.Pro1489Ala)
|
rs1303444757
|
|
NM_004380.3(CREBBP):c.4471C>T (p.Gln1491Ter)
|
|
|
NM_004380.3(CREBBP):c.4480C>T (p.Pro1494Ser)
|
rs199817036
|
|
NM_004380.3(CREBBP):c.4482del (p.Lys1495fs)
|
|
|
NM_004380.3(CREBBP):c.4492C>T (p.Arg1498Ter)
|
rs2052070776
|
|
NM_004380.3(CREBBP):c.4530G>A (p.Ala1510=)
|
|
|
NM_004380.3(CREBBP):c.4530G>T (p.Ala1510=)
|
|
|
NM_004380.3(CREBBP):c.4548C>T (p.Ile1516=)
|
|
|
NM_004380.3(CREBBP):c.4559A>G (p.Lys1520Arg)
|
rs1596805575
|
|
NM_004380.3(CREBBP):c.4560+10G>A
|
|
|
NM_004380.3(CREBBP):c.4560+11C>A
|
|
|
NM_004380.3(CREBBP):c.4560+20G>T
|
|
|
NM_004380.3(CREBBP):c.4561-1G>A
|
rs2151327974
|
|
NM_004380.3(CREBBP):c.4561-20_4561-19del
|
|
|
NM_004380.3(CREBBP):c.4561-2A>T
|
rs2151327978
|
|
NM_004380.3(CREBBP):c.4561-3C>A
|
|
|
NM_004380.3(CREBBP):c.4561-7C>T
|
|
|
NM_004380.3(CREBBP):c.4561-9C>T
|
|
|
NM_004380.3(CREBBP):c.4578A>C (p.Ala1526=)
|
|
|
NM_004380.3(CREBBP):c.459G>C (p.Pro153=)
|
|
|
NM_004380.3(CREBBP):c.4612C>T (p.Pro1538Ser)
|
|
|
NM_004380.3(CREBBP):c.4615T>A (p.Tyr1539Asn)
|
|
|
NM_004380.3(CREBBP):c.4624G>T (p.Gly1542Cys)
|
|
|
NM_004380.3(CREBBP):c.4626T>C (p.Gly1542=)
|
|
|
NM_004380.3(CREBBP):c.463G>A (p.Ala155Thr)
|
|
|
NM_004380.3(CREBBP):c.4640A>G (p.Asn1547Ser)
|
|
|
NM_004380.3(CREBBP):c.4641T>C (p.Asn1547=)
|
|
|
NM_004380.3(CREBBP):c.4649A>C (p.Glu1550Ala)
|
|
|
NM_004380.3(CREBBP):c.4662G>A (p.Lys1554=)
|
|
|
NM_004380.3(CREBBP):c.4663G>T (p.Glu1555Ter)
|
rs1555472931
|
|
NM_004380.3(CREBBP):c.4672C>T (p.Gln1558Ter)
|
rs778375586
|
|
NM_004380.3(CREBBP):c.4674AGA[2] (p.Glu1562del)
|
|
|
NM_004380.3(CREBBP):c.4679_4683del (p.Glu1560fs)
|
rs2151327706
|
|
NM_004380.3(CREBBP):c.4683G>A (p.Glu1561=)
|
|
|
NM_004380.3(CREBBP):c.4695G>A (p.Lys1565=)
|
|
|
NM_004380.3(CREBBP):c.4721C>G (p.Thr1574Ser)
|
|
|
NM_004380.3(CREBBP):c.4722C>T (p.Thr1574=)
|
|
|
NM_004380.3(CREBBP):c.4726G>A (p.Glu1576Lys)
|
|
|
NM_004380.3(CREBBP):c.4728+4C>G
|
|
|
NM_004380.3(CREBBP):c.4728+8C>T
|
|
|
NM_004380.3(CREBBP):c.4729-12G>A
|
|
|
NM_004380.3(CREBBP):c.4729-13C>T
|
|
|
NM_004380.3(CREBBP):c.4729-14G>A
|
rs130008
|
|
NM_004380.3(CREBBP):c.4729-14G>C
|
rs130008
|
|
NM_004380.3(CREBBP):c.4729-17C>T
|
|
|
NM_004380.3(CREBBP):c.4729-18C>G
|
|
|
NM_004380.3(CREBBP):c.472del (p.Gln158fs)
|
rs1555496581
|
|
NM_004380.3(CREBBP):c.4735C>G (p.Gln1579Glu)
|
rs746079826
|
|
NM_004380.3(CREBBP):c.4737G>A (p.Gln1579=)
|
|
|
NM_004380.3(CREBBP):c.4743del (p.Asp1581fs)
|
|
|
NM_004380.3(CREBBP):c.475G>A (p.Val159Met)
|
|
|
NM_004380.3(CREBBP):c.4764G>A (p.Lys1588=)
|
|
|
NM_004380.3(CREBBP):c.4764G>C (p.Lys1588Asn)
|
|
|
NM_004380.3(CREBBP):c.4767C>G (p.Asn1589Lys)
|
|
|
NM_004380.3(CREBBP):c.4767C>T (p.Asn1589=)
|
|
|
NM_004380.3(CREBBP):c.4788C>T (p.Asn1596=)
|
|
|
NM_004380.3(CREBBP):c.4795A>G (p.Ser1599Gly)
|
|
|
NM_004380.3(CREBBP):c.4806C>T (p.Arg1602=)
|
|
|
NM_004380.3(CREBBP):c.4807G>A (p.Ala1603Thr)
|
|
|
NM_004380.3(CREBBP):c.4835A>G (p.Asn1612Ser)
|
|
|
NM_004380.3(CREBBP):c.4836C>T (p.Asn1612=)
|
|
|
NM_004380.3(CREBBP):c.4844A>G (p.Asn1615Ser)
|
|
|
NM_004380.3(CREBBP):c.4846G>A (p.Asp1616Asn)
|
|
|
NM_004380.3(CREBBP):c.4861C>T (p.Leu1621=)
|
|
|
NM_004380.3(CREBBP):c.4866T>C (p.Tyr1622=)
|
|
|
NM_004380.3(CREBBP):c.4890+16G>A
|
|
|
NM_004380.3(CREBBP):c.4890+17G>A
|
|
|
NM_004380.3(CREBBP):c.4890+8T>C
|
|
|
NM_004380.3(CREBBP):c.4891-12C>T
|
|
|
NM_004380.3(CREBBP):c.4891-17C>T
|
|
|
NM_004380.3(CREBBP):c.4891-6C>T
|
|
|
NM_004380.3(CREBBP):c.4891-8T>C
|
|
|
NM_004380.3(CREBBP):c.4893C>A (p.Val1631=)
|
|
|
NM_004380.3(CREBBP):c.4894T>G (p.Phe1632Val)
|
|
|
NM_004380.3(CREBBP):c.4899C>T (p.Phe1633=)
|
|
|
NM_004380.3(CREBBP):c.490A>G (p.Ser164Gly)
|
|
|
NM_004380.3(CREBBP):c.4910T>C (p.Leu1637Pro)
|
|
|
NM_004380.3(CREBBP):c.4926C>T (p.Val1642=)
|
|
|
NM_004380.3(CREBBP):c.4929C>T (p.Ile1643=)
|
|
|
NM_004380.3(CREBBP):c.4942C>T (p.Pro1648Ser)
|
|
|
NM_004380.3(CREBBP):c.4943C>A (p.Pro1648His)
|
|
|
NM_004380.3(CREBBP):c.4944C>A (p.Pro1648=)
|
rs375829291
|
|
NM_004380.3(CREBBP):c.4944dup (p.Ile1649fs)
|
rs2151317319
|
|
NM_004380.3(CREBBP):c.4947C>T (p.Ile1649=)
|
|
|
NM_004380.3(CREBBP):c.4962C>G (p.Pro1654=)
|
|
|
NM_004380.3(CREBBP):c.4981A>C (p.Met1661Leu)
|
|
|
NM_004380.3(CREBBP):c.4992C>G (p.Arg1664=)
|
|
|
NM_004380.3(CREBBP):c.4995C>T (p.Asp1665=)
|
|
|
NM_004380.3(CREBBP):c.4996G>A (p.Ala1666Thr)
|
|
|
NM_004380.3(CREBBP):c.5001C>T (p.Phe1667=)
|
|
|
NM_004380.3(CREBBP):c.500C>G (p.Ala167Gly)
|
|
|
NM_004380.3(CREBBP):c.5010C>G (p.Leu1670=)
|
|
|
NM_004380.3(CREBBP):c.5010C>T (p.Leu1670=)
|
|
|
NM_004380.3(CREBBP):c.5011G>A (p.Ala1671Thr)
|
rs2151316910
|
|
NM_004380.3(CREBBP):c.5014A>T (p.Arg1672Ter)
|
rs1555471874
|
|
NM_004380.3(CREBBP):c.5017G>T (p.Asp1673Tyr)
|
|
|
NM_004380.3(CREBBP):c.5025C>A (p.His1675Gln)
|
|
|
NM_004380.3(CREBBP):c.5028G>A (p.Trp1676Ter)
|
rs2051909999
|
|
NM_004380.3(CREBBP):c.5034C>T (p.Phe1678=)
|
|
|
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del)
|
rs587783502
|
|
NM_004380.3(CREBBP):c.503C>T (p.Thr168Met)
|
|
|
NM_004380.3(CREBBP):c.5049C>T (p.Arg1683=)
|
|
|
NM_004380.3(CREBBP):c.504G>C (p.Thr168=)
|
|
|
NM_004380.3(CREBBP):c.5051C>A (p.Ser1684Tyr)
|
rs1555471841
|
|
NM_004380.3(CREBBP):c.5059T>C (p.Ser1687Pro)
|
rs61731407
|
|
NM_004380.3(CREBBP):c.5060C>T (p.Ser1687Phe)
|
rs2151316542
|
|
NM_004380.3(CREBBP):c.5064G>A (p.Thr1688=)
|
|
|
NM_004380.3(CREBBP):c.5091C>G (p.Thr1697=)
|
|
|
NM_004380.3(CREBBP):c.5091C>T (p.Thr1697=)
|
|
|
NM_004380.3(CREBBP):c.5105G>T (p.Arg1702Leu)
|
rs1275659601
|
|
NM_004380.3(CREBBP):c.510G>A (p.Gln170=)
|
|
|
NM_004380.3(CREBBP):c.5127G>A (p.Glu1709=)
|
|
|
NM_004380.3(CREBBP):c.5133G>A (p.Lys1711=)
|
|
|
NM_004380.3(CREBBP):c.5139C>T (p.His1713=)
|
|
|
NM_004380.3(CREBBP):c.5140G>A (p.Val1714Met)
|
|
|
NM_004380.3(CREBBP):c.5148G>A (p.Thr1716=)
|
|
|
NM_004380.3(CREBBP):c.5148G>C (p.Thr1716=)
|
rs376575063
|
|
NM_004380.3(CREBBP):c.515G>T (p.Gly172Val)
|
|
|
NM_004380.3(CREBBP):c.5163T>C (p.Thr1721=)
|
|
|
NM_004380.3(CREBBP):c.5172+13C>A
|
|
|
NM_004380.3(CREBBP):c.5172+4G>A
|
|
|
NM_004380.3(CREBBP):c.5173-10T>G
|
|
|
NM_004380.3(CREBBP):c.5178C>T (p.Tyr1726=)
|
|
|
NM_004380.3(CREBBP):c.5181C>T (p.Asp1727=)
|
|
|
NM_004380.3(CREBBP):c.5184C>T (p.Leu1728=)
|
rs759268055
|
|
NM_004380.3(CREBBP):c.5199T>C (p.Tyr1733=)
|
|
|
NM_004380.3(CREBBP):c.5201A>C (p.Asn1734Thr)
|
|
|
NM_004380.3(CREBBP):c.5205G>A (p.Thr1735=)
|
|
|
NM_004380.3(CREBBP):c.521del (p.Gly174fs)
|
|
|
NM_004380.3(CREBBP):c.5232G>A (p.Lys1744=)
|
rs1567263707
|
|
NM_004380.3(CREBBP):c.5234G>C (p.Trp1745Ser)
|
|
|
NM_004380.3(CREBBP):c.5241G>T (p.Leu1747=)
|
rs932933039
|
|
NM_004380.3(CREBBP):c.5242G>T (p.Gly1748Cys)
|
|
|
NM_004380.3(CREBBP):c.5264G>A (p.Ser1755Asn)
|
|
|
NM_004380.3(CREBBP):c.5277A>G (p.Pro1759=)
|
|
|
NM_004380.3(CREBBP):c.5286G>A (p.Lys1762=)
|
|
|
NM_004380.3(CREBBP):c.5296_5297insCCCAC (p.Glu1766fs)
|
rs2151311901
|
|
NM_004380.3(CREBBP):c.529A>G (p.Met177Val)
|
|
|
NM_004380.3(CREBBP):c.5301_5302insAAGAACCCCCAA (p.Ser1767_Arg1768insLysAsnProGln)
|
rs2151311865
|
|
NM_004380.3(CREBBP):c.5334G>T (p.Ser1778=)
|
|
|
NM_004380.3(CREBBP):c.5364C>T (p.Ala1788=)
|
|
|
NM_004380.3(CREBBP):c.5374C>T (p.Leu1792=)
|
|
|
NM_004380.3(CREBBP):c.5398C>T (p.Arg1800Trp)
|
|
|
NM_004380.3(CREBBP):c.5403G>A (p.Val1801=)
|
|
|
NM_004380.3(CREBBP):c.5403G>T (p.Val1801=)
|
|
|
NM_004380.3(CREBBP):c.5404G>A (p.Val1802Met)
|
|
|
NM_004380.3(CREBBP):c.5415C>T (p.Thr1805=)
|
|
|
NM_004380.3(CREBBP):c.5418G>A (p.Lys1806=)
|
|
|
NM_004380.3(CREBBP):c.5439C>T (p.Asn1813=)
|
|
|
NM_004380.3(CREBBP):c.5440G>A (p.Gly1814Arg)
|
|
|
NM_004380.3(CREBBP):c.5451G>A (p.Pro1817=)
|
|
|
NM_004380.3(CREBBP):c.5467A>T (p.Ile1823Phe)
|
|
|
NM_004380.3(CREBBP):c.5489C>G (p.Ala1830Gly)
|
|
|
NM_004380.3(CREBBP):c.5540A>G (p.Lys1847Arg)
|
|
|
NM_004380.3(CREBBP):c.5549T>C (p.Leu1850Pro)
|
|
|
NM_004380.3(CREBBP):c.5557C>G (p.Gln1853Glu)
|
|
|
NM_004380.3(CREBBP):c.5570_5590dup (p.Gln1863_Leu1864insHisArgLeuGlnGlnAlaGln)
|
|
|
NM_004380.3(CREBBP):c.5571C>T (p.His1857=)
|
|
|
NM_004380.3(CREBBP):c.5573G>C (p.Arg1858Pro)
|
rs770325046
|
|
NM_004380.3(CREBBP):c.5592C>A (p.Leu1864=)
|
|
|
NM_004380.3(CREBBP):c.5592C>T (p.Leu1864=)
|
|
|
NM_004380.3(CREBBP):c.5600G>A (p.Arg1867Gln)
|
rs1131691326
|
|
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln)
|
rs1567263168
|
|
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)
|
rs797045037
|
|
NM_004380.3(CREBBP):c.5615T>C (p.Met1872Thr)
|
rs879255381
|
|
NM_004380.3(CREBBP):c.5627A>G (p.Asn1876Ser)
|
|
|
NM_004380.3(CREBBP):c.5628C>T (p.Asn1876=)
|
|
|
NM_004380.3(CREBBP):c.5631G>A (p.Val1877=)
|
|
|
NM_004380.3(CREBBP):c.5638C>T (p.Gln1880Ter)
|
|
|
NM_004380.3(CREBBP):c.5641_5642del (p.Leu1882fs)
|
rs1567263114
|
|
NM_004380.3(CREBBP):c.5653C>T (p.Pro1885Ser)
|
|
|
NM_004380.3(CREBBP):c.567del (p.Asn190fs)
|
rs2054809165
|
|
NM_004380.3(CREBBP):c.5694_5703del (p.Ser1898fs)
|
rs1555471323
|
|
NM_004380.3(CREBBP):c.5695A>G (p.Thr1899Ala)
|
|
|
NM_004380.3(CREBBP):c.569A>G (p.Asn190Ser)
|
|
|
NM_004380.3(CREBBP):c.5715C>A (p.Pro1905=)
|
|
|
NM_004380.3(CREBBP):c.5730A>G (p.Gln1910=)
|
|
|
NM_004380.3(CREBBP):c.5739C>T (p.Pro1913=)
|
|
|
NM_004380.3(CREBBP):c.5782C>T (p.Gln1928Ter)
|
rs2151308298
|
|
NM_004380.3(CREBBP):c.5790C>G (p.Pro1930=)
|
|
|
NM_004380.3(CREBBP):c.5790C>T (p.Pro1930=)
|
|
|
NM_004380.3(CREBBP):c.5791A>C (p.Thr1931Pro)
|
|
|
NM_004380.3(CREBBP):c.5793C>T (p.Thr1931=)
|
|
|
NM_004380.3(CREBBP):c.5796_5804del (p.Val1933_Thr1935del)
|
|
|
NM_004380.3(CREBBP):c.5804C>T (p.Thr1935Ile)
|
rs2151308115
|
|
NM_004380.3(CREBBP):c.5817C>A (p.Thr1939=)
|
|
|
NM_004380.3(CREBBP):c.581del (p.Gly194fs)
|
rs2141491677
|
|
NM_004380.3(CREBBP):c.5828C>A (p.Pro1943Gln)
|
|
|
NM_004380.3(CREBBP):c.5828C>T (p.Pro1943Leu)
|
|
|
NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln)
|
rs765600316
|
|
NM_004380.3(CREBBP):c.5839C>A (p.Pro1947Thr)
|
|
|
NM_004380.3(CREBBP):c.5839C>T (p.Pro1947Ser)
|
|
|
NM_004380.3(CREBBP):c.5841C>T (p.Pro1947=)
|
|
|
NM_004380.3(CREBBP):c.5845G>A (p.Ala1949Thr)
|
|
|
NM_004380.3(CREBBP):c.5856dup (p.Pro1953fs)
|
rs1596786167
|
|
NM_004380.3(CREBBP):c.5873C>T (p.Ala1958Val)
|
rs986406817
|
|
NM_004380.3(CREBBP):c.5874G>A (p.Ala1958=)
|
|
|
NM_004380.3(CREBBP):c.5878C>A (p.Arg1960=)
|
|
|
NM_004380.3(CREBBP):c.5886C>A (p.Ile1962=)
|
rs370565083
|
|
NM_004380.3(CREBBP):c.5887G>A (p.Glu1963Lys)
|
|
|
NM_004380.3(CREBBP):c.5891G>T (p.Arg1964Leu)
|
|
|
NM_004380.3(CREBBP):c.5902C>T (p.Gln1968Ter)
|
|
|
NM_004380.3(CREBBP):c.5908C>G (p.Gln1970Glu)
|
|
|
NM_004380.3(CREBBP):c.5910G>A (p.Gln1970=)
|
|
|
NM_004380.3(CREBBP):c.5910G>T (p.Gln1970His)
|
|
|
NM_004380.3(CREBBP):c.5919C>T (p.Tyr1973=)
|
|
|
NM_004380.3(CREBBP):c.5921G>A (p.Arg1974Gln)
|
|
|
NM_004380.3(CREBBP):c.5922G>T (p.Arg1974=)
|
|
|
NM_004380.3(CREBBP):c.5934C>G (p.Asn1978Lys)
|
|
|
NM_004380.3(CREBBP):c.5940C>T (p.Ser1980=)
|
|
|
NM_004380.3(CREBBP):c.5949A>G (p.Pro1983=)
|
|
|
NM_004380.3(CREBBP):c.5953C>T (p.Arg1985Cys)
|
|
|
NM_004380.3(CREBBP):c.5956A>G (p.Thr1986Ala)
|
|
|
NM_004380.3(CREBBP):c.5957C>T (p.Thr1986Met)
|
|
|
NM_004380.3(CREBBP):c.5962A>G (p.Met1988Val)
|
|
|
NM_004380.3(CREBBP):c.5969_5977del (p.Thr1990_Gly1992del)
|
rs777318563
|
|
NM_004380.3(CREBBP):c.5972C>T (p.Pro1991Leu)
|
|
|
NM_004380.3(CREBBP):c.599A>G (p.Gln200Arg)
|
|
|
NM_004380.3(CREBBP):c.6028G>A (p.Gly2010Arg)
|
rs751739281
|
|
NM_004380.3(CREBBP):c.6033C>T (p.Pro2011=)
|
rs763241697
|
|
NM_004380.3(CREBBP):c.6034G>A (p.Val2012Ile)
|
|
|
NM_004380.3(CREBBP):c.6045C>T (p.Ser2015=)
|
|
|
NM_004380.3(CREBBP):c.6050C>T (p.Pro2017Leu)
|
|
|
NM_004380.3(CREBBP):c.6055G>A (p.Gly2019Arg)
|
|
|
NM_004380.3(CREBBP):c.6071C>G (p.Ala2024Gly)
|
|
|
NM_004380.3(CREBBP):c.6072G>A (p.Ala2024=)
|
|
|
NM_004380.3(CREBBP):c.6077T>A (p.Leu2026His)
|
|
|
NM_004380.3(CREBBP):c.6102C>T (p.Gly2034=)
|
|
|
NM_004380.3(CREBBP):c.6110G>A (p.Arg2037Lys)
|
|
|
NM_004380.3(CREBBP):c.6119T>C (p.Ile2040Thr)
|
|
|
NM_004380.3(CREBBP):c.6124A>T (p.Met2042Leu)
|
|
|
NM_004380.3(CREBBP):c.6130G>A (p.Ala2044Thr)
|
|
|
NM_004380.3(CREBBP):c.6131C>T (p.Ala2044Val)
|
|
|
NM_004380.3(CREBBP):c.6137C>T (p.Ala2046Val)
|
|
|
NM_004380.3(CREBBP):c.6138G>T (p.Ala2046=)
|
|
|
NM_004380.3(CREBBP):c.613C>A (p.Gln205Lys)
|
|
|
NM_004380.3(CREBBP):c.615G>A (p.Gln205=)
|
|
|
NM_004380.3(CREBBP):c.6164G>C (p.Ser2055Thr)
|
|
|
NM_004380.3(CREBBP):c.6186C>T (p.Ile2062=)
|
|
|
NM_004380.3(CREBBP):c.6216G>A (p.Arg2072=)
|
|
|
NM_004380.3(CREBBP):c.6227C>A (p.Ser2076Ter)
|
|
|
NM_004380.3(CREBBP):c.6237C>A (p.Ser2079=)
|
|
|
NM_004380.3(CREBBP):c.6237C>T (p.Ser2079=)
|
|
|
NM_004380.3(CREBBP):c.6238_6239del (p.Pro2080fs)
|
|
|
NM_004380.3(CREBBP):c.625A>G (p.Met209Val)
|
|
|
NM_004380.3(CREBBP):c.6273A>G (p.Lys2091=)
|
|
|
NM_004380.3(CREBBP):c.6301A>G (p.Ile2101Val)
|
|
|
NM_004380.3(CREBBP):c.6303C>T (p.Ile2101=)
|
|
|
NM_004380.3(CREBBP):c.6307C>T (p.Gln2103Ter)
|
|
|
NM_004380.3(CREBBP):c.6315A>G (p.Thr2105=)
|
|
|
NM_004380.3(CREBBP):c.6327G>C (p.Val2109=)
|
|
|
NM_004380.3(CREBBP):c.6332A>G (p.Asn2111Ser)
|
|
|
NM_004380.3(CREBBP):c.6339C>T (p.Pro2113=)
|
|
|
NM_004380.3(CREBBP):c.6339_6356dup (p.Gly2120_Leu2121insMetGlnProGlnProGly)
|
|
|
NM_004380.3(CREBBP):c.6343A>G (p.Met2115Val)
|
|
|
NM_004380.3(CREBBP):c.6348_6383dup (p.Gly2132_Met2133insLeuGlnSerGlnProGlyMetGlnProGlnProGly)
|
|
|
NM_004380.3(CREBBP):c.6357T>G (p.Pro2119=)
|
|
|
NM_004380.3(CREBBP):c.6361_6396del (p.Leu2121_Gly2132del)
|
|
|
NM_004380.3(CREBBP):c.6372G>A (p.Gln2124=)
|
|
|
NM_004380.3(CREBBP):c.6376G>A (p.Gly2126Ser)
|
|
|
NM_004380.3(CREBBP):c.6376G>T (p.Gly2126Cys)
|
|
|
NM_004380.3(CREBBP):c.6378C>A (p.Gly2126=)
|
|
|
NM_004380.3(CREBBP):c.6384_6401del (p.Gln2128_Met2133del)
|
rs772003652
|
|
NM_004380.3(CREBBP):c.6384_6401dup (p.Gln2128_Met2133dup)
|
rs772003652
|
|
NM_004380.3(CREBBP):c.6390G>C (p.Gln2130His)
|
|
|
NM_004380.3(CREBBP):c.6391C>T (p.Pro2131Ser)
|
|
|
NM_004380.3(CREBBP):c.6398T>C (p.Met2133Thr)
|
|
|
NM_004380.3(CREBBP):c.6404delinsTGC (p.Gln2135fs)
|
rs2051819669
|
|
NM_004380.3(CREBBP):c.6414C>G (p.Ser2138Arg)
|
|
|
NM_004380.3(CREBBP):c.6417G>A (p.Leu2139=)
|
|
|
NM_004380.3(CREBBP):c.6419A>G (p.Gln2140Arg)
|
|
|
NM_004380.3(CREBBP):c.6432C>T (p.Ala2144=)
|
|
|
NM_004380.3(CREBBP):c.6433A>T (p.Met2145Leu)
|
|
|
NM_004380.3(CREBBP):c.6445G>A (p.Val2149Met)
|
rs147448293
|
|
NM_004380.3(CREBBP):c.6445G>T (p.Val2149Leu)
|
|
|
NM_004380.3(CREBBP):c.6449C>A (p.Pro2150Gln)
|
|
|
NM_004380.3(CREBBP):c.6451C>T (p.Arg2151Trp)
|
|
|
NM_004380.3(CREBBP):c.6453G>C (p.Arg2151=)
|
|
|
NM_004380.3(CREBBP):c.6456C>T (p.Pro2152=)
|
|
|
NM_004380.3(CREBBP):c.6457G>A (p.Gly2153Ser)
|
|
|
NM_004380.3(CREBBP):c.6458G>A (p.Gly2153Asp)
|
|
|
NM_004380.3(CREBBP):c.6466_6476del (p.Pro2156fs)
|
|
|
NM_004380.3(CREBBP):c.6478G>A (p.Ala2160Thr)
|
|
|
NM_004380.3(CREBBP):c.6480G>A (p.Ala2160=)
|
|
|
NM_004380.3(CREBBP):c.6480G>T (p.Ala2160=)
|
|
|
NM_004380.3(CREBBP):c.6510C>G (p.Ala2170=)
|
|
|
NM_004380.3(CREBBP):c.6510C>T (p.Ala2170=)
|
|
|
NM_004380.3(CREBBP):c.6517A>G (p.Ile2173Val)
|
|
|
NM_004380.3(CREBBP):c.652A>G (p.Arg218Gly)
|
|
|
NM_004380.3(CREBBP):c.6536A>C (p.Asn2179Thr)
|
|
|
NM_004380.3(CREBBP):c.6538C>T (p.Pro2180Ser)
|
|
|
NM_004380.3(CREBBP):c.6543C>A (p.Asn2181Lys)
|
|
|
NM_004380.3(CREBBP):c.6548C>T (p.Ala2183Val)
|
|
|
NM_004380.3(CREBBP):c.6585G>A (p.Arg2195=)
|
|
|
NM_004380.3(CREBBP):c.6594GCA[2] (p.Gln2214_Gln2216del)
|
rs746121736
|
|
NM_004380.3(CREBBP):c.6594GCA[3] (p.Gln2215_Gln2216del)
|
rs746121736
|
|
NM_004380.3(CREBBP):c.6594GCA[6] (p.Gln2216_Gly2217insGln)
|
|
|
NM_004380.3(CREBBP):c.6600GCAGCAGCAACA[1] (p.Gln2213_Gln2216del)
|
rs750150018
|
|
NM_004380.3(CREBBP):c.6603G>A (p.Gln2201=)
|
|
|
NM_004380.3(CREBBP):c.6603_6620del (p.Gln2211_Gln2216del)
|
rs2151302749
|
|
NM_004380.3(CREBBP):c.6612GCA[4] (p.Gln2216dup)
|
rs779647460
|
|
NM_004380.3(CREBBP):c.6621ACA[1] (p.Gln2216del)
|
|
|
NM_004380.3(CREBBP):c.6621_6644del (p.Gln2209_Gln2216del)
|
rs778507028
|
|
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His)
|
rs142545779
|
|
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=)
|
rs142545779
|
|
NM_004380.3(CREBBP):c.6624_6635del (p.Gln2213_Gln2216del)
|
rs763108828
|
|
NM_004380.3(CREBBP):c.6625C>G (p.Gln2209Glu)
|
|
|
NM_004380.3(CREBBP):c.6633A>G (p.Gln2211=)
|
|
|
NM_004380.3(CREBBP):c.6633_6644dup (p.Gln2216_Gly2217insGlnGlnGlnGln)
|
|
|
NM_004380.3(CREBBP):c.6636GCA[5] (p.Gln2216_Gly2217insGln)
|
|
|
NM_004380.3(CREBBP):c.6646C>A (p.Gln2216Lys)
|
|
|
NM_004380.3(CREBBP):c.6657C>T (p.Ala2219=)
|
|
|
NM_004380.3(CREBBP):c.6664G>A (p.Ala2222Thr)
|
|
|
NM_004380.3(CREBBP):c.6668G>T (p.Gly2223Val)
|
|
|
NM_004380.3(CREBBP):c.6671G>C (p.Gly2224Ala)
|
|
|
NM_004380.3(CREBBP):c.6673A>C (p.Met2225Leu)
|
|
|
NM_004380.3(CREBBP):c.6673A>G (p.Met2225Val)
|
|
|
NM_004380.3(CREBBP):c.6680G>A (p.Gly2227Glu)
|
|
|
NM_004380.3(CREBBP):c.6693C>T (p.Phe2231=)
|
|
|
NM_004380.3(CREBBP):c.6725C>T (p.Pro2242Leu)
|
|
|
NM_004380.3(CREBBP):c.6726G>A (p.Pro2242=)
|
|
|
NM_004380.3(CREBBP):c.6730A>C (p.Met2244Leu)
|
|
|
NM_004380.3(CREBBP):c.6732G>A (p.Met2244Ile)
|
|
|
NM_004380.3(CREBBP):c.6734AGC[3] (p.Gln2248del)
|
|
|
NM_004380.3(CREBBP):c.6734AGC[5] (p.Gln2248dup)
|
rs753283086
|
|
NM_004380.3(CREBBP):c.6745C>T (p.Arg2249Cys)
|
|
|
NM_004380.3(CREBBP):c.6763C>T (p.Pro2255Ser)
|
|
|
NM_004380.3(CREBBP):c.6764C>T (p.Pro2255Leu)
|
rs1191357764
|
|
NM_004380.3(CREBBP):c.6765C>G (p.Pro2255=)
|
|
|
NM_004380.3(CREBBP):c.6777C>T (p.Ser2259=)
|
|
|
NM_004380.3(CREBBP):c.6786C>T (p.Gly2262=)
|
|
|
NM_004380.3(CREBBP):c.6789G>C (p.Gln2263His)
|
|
|
NM_004380.3(CREBBP):c.6794C>T (p.Ala2265Val)
|
|
|
NM_004380.3(CREBBP):c.6820A>G (p.Met2274Val)
|
rs1306100144
|
|
NM_004380.3(CREBBP):c.6829C>T (p.Pro2277Ser)
|
|
|
NM_004380.3(CREBBP):c.6831G>A (p.Pro2277=)
|
|
|
NM_004380.3(CREBBP):c.6834G>A (p.Gly2278=)
|
rs372866305
|
|
NM_004380.3(CREBBP):c.6839G>A (p.Gly2280Glu)
|
rs781438241
|
|
NM_004380.3(CREBBP):c.6855C>G (p.Pro2285=)
|
|
|
NM_004380.3(CREBBP):c.685C>T (p.Pro229Ser)
|
|
|
NM_004380.3(CREBBP):c.6864G>A (p.Gln2288=)
|
|
|
NM_004380.3(CREBBP):c.6871C>G (p.Leu2291Val)
|
|
|
NM_004380.3(CREBBP):c.6886C>T (p.Leu2296=)
|
|
|
NM_004380.3(CREBBP):c.6909_6910delinsTA (p.Gln2303_Gln2304delinsHisLys)
|
|
|
NM_004380.3(CREBBP):c.6930G>T (p.Gln2310His)
|
|
|
NM_004380.3(CREBBP):c.6932C>T (p.Pro2311Leu)
|
|
|
NM_004380.3(CREBBP):c.6933G>A (p.Pro2311=)
|
|
|
NM_004380.3(CREBBP):c.6959T>C (p.Met2320Thr)
|
|
|
NM_004380.3(CREBBP):c.695A>G (p.Gln232Arg)
|
rs2054805900
|
|
NM_004380.3(CREBBP):c.6969A>G (p.Gly2323=)
|
|
|
NM_004380.3(CREBBP):c.6972G>A (p.Gln2324=)
|
|
|
NM_004380.3(CREBBP):c.6983C>T (p.Ser2328Leu)
|
|
|
NM_004380.3(CREBBP):c.6997C>A (p.Gln2333Lys)
|
|
|
NM_004380.3(CREBBP):c.7005C>T (p.Ile2335=)
|
|
|
NM_004380.3(CREBBP):c.7006G>A (p.Ala2336Thr)
|
|
|
NM_004380.3(CREBBP):c.700G>A (p.Ala234Thr)
|
|
|
NM_004380.3(CREBBP):c.7011G>C (p.Thr2337=)
|
|
|
NM_004380.3(CREBBP):c.7023C>G (p.Asn2341Lys)
|
|
|
NM_004380.3(CREBBP):c.702C>T (p.Ala234=)
|
|
|
NM_004380.3(CREBBP):c.7030C>T (p.Arg2344Trp)
|
|
|
NM_004380.3(CREBBP):c.7041C>T (p.Ala2347=)
|
|
|
NM_004380.3(CREBBP):c.7058_7078del (p.Arg2353_Pro2359del)
|
rs766383937
|
|
NM_004380.3(CREBBP):c.7062C>T (p.Pro2354=)
|
|
|
NM_004380.3(CREBBP):c.7106C>T (p.Pro2369Leu)
|
|
|
NM_004380.3(CREBBP):c.7107C>G (p.Pro2369=)
|
|
|
NM_004380.3(CREBBP):c.7111C>A (p.Pro2371Thr)
|
|
|
NM_004380.3(CREBBP):c.7123C>T (p.His2375Tyr)
|
|
|
NM_004380.3(CREBBP):c.712G>A (p.Val238Met)
|
rs146887252
|
|
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu)
|
rs146887252
|
|
NM_004380.3(CREBBP):c.7136A>C (p.Gln2379Pro)
|
|
|
NM_004380.3(CREBBP):c.7146C>T (p.Ser2382=)
|
|
|
NM_004380.3(CREBBP):c.7149C>A (p.Pro2383=)
|
|
|
NM_004380.3(CREBBP):c.7155C>T (p.Pro2385=)
|
rs763948946
|
|
NM_004380.3(CREBBP):c.7161C>G (p.Leu2387=)
|
|
|
NM_004380.3(CREBBP):c.7182C>T (p.Ser2394=)
|
rs934317603
|
|
NM_004380.3(CREBBP):c.7195C>T (p.His2399Tyr)
|
|
|
NM_004380.3(CREBBP):c.7198T>C (p.Leu2400=)
|
|
|
NM_004380.3(CREBBP):c.7203G>T (p.Gly2401=)
|
|
|
NM_004380.3(CREBBP):c.7207C>G (p.Pro2403Ala)
|
|
|
NM_004380.3(CREBBP):c.7209C>T (p.Pro2403=)
|
|
|
NM_004380.3(CREBBP):c.7210G>A (p.Glu2404Lys)
|
rs863223334
|
|
NM_004380.3(CREBBP):c.721G>A (p.Glu241Lys)
|
|
|
NM_004380.3(CREBBP):c.7243C>T (p.Pro2415Ser)
|
|
|
NM_004380.3(CREBBP):c.7245C>T (p.Pro2415=)
|
rs1555470758
|
|
NM_004380.3(CREBBP):c.7255G>A (p.Ala2419Thr)
|
|
|
NM_004380.3(CREBBP):c.7256C>T (p.Ala2419Val)
|
|
|
NM_004380.3(CREBBP):c.7257G>A (p.Ala2419=)
|
|
|
NM_004380.3(CREBBP):c.725C>A (p.Thr242Asn)
|
|
|
NM_004380.3(CREBBP):c.7266C>G (p.Ser2422Arg)
|
|
|
NM_004380.3(CREBBP):c.726C>G (p.Thr242=)
|
|
|
NM_004380.3(CREBBP):c.7281C>T (p.Val2427=)
|
|
|
NM_004380.3(CREBBP):c.7290_7301dup (p.Thr2434_Leu2435insThrGlyAspThr)
|
|
|
NM_004380.3(CREBBP):c.7292C>T (p.Thr2431Met)
|
|
|
NM_004380.3(CREBBP):c.7300A>G (p.Thr2434Ala)
|
|
|
NM_004380.3(CREBBP):c.731C>T (p.Thr244Met)
|
|
|
NM_004380.3(CREBBP):c.7326G>A (p.Leu2442=)
|
|
|
NM_004380.3(CREBBP):c.732G>A (p.Thr244=)
|
|
|
NM_004380.3(CREBBP):c.733C>T (p.Gln245Ter)
|
|
|
NM_004380.3(CREBBP):c.739T>C (p.Ser247Pro)
|
|
|
NM_004380.3(CREBBP):c.749T>C (p.Met250Thr)
|
|
|
NM_004380.3(CREBBP):c.753T>G (p.Thr251=)
|
rs142403441
|
|
NM_004380.3(CREBBP):c.756T>C (p.Gly252=)
|
|
|
NM_004380.3(CREBBP):c.760G>T (p.Ala254Ser)
|
|
|
NM_004380.3(CREBBP):c.761C>T (p.Ala254Val)
|
|
|
NM_004380.3(CREBBP):c.761_767del (p.Ala254fs)
|
|
|
NM_004380.3(CREBBP):c.772A>G (p.Thr258Ala)
|
rs1597053070
|
|
NM_004380.3(CREBBP):c.774C>T (p.Thr258=)
|
|
|
NM_004380.3(CREBBP):c.775G>T (p.Ala259Ser)
|
|
|
NM_004380.3(CREBBP):c.778C>A (p.Gln260Lys)
|
|
|
NM_004380.3(CREBBP):c.782C>T (p.Ala261Val)
|
|
|
NM_004380.3(CREBBP):c.796A>G (p.Lys266Glu)
|
|
|
NM_004380.3(CREBBP):c.799-18A>T
|
|
|
NM_004380.3(CREBBP):c.799-19del
|
rs2141347625
|
|
NM_004380.3(CREBBP):c.799A>G (p.Met267Val)
|
|
|
NM_004380.3(CREBBP):c.799A>T (p.Met267Leu)
|
|
|
NM_004380.3(CREBBP):c.802G>T (p.Gly268Ter)
|
rs2053923868
|
|
NM_004380.3(CREBBP):c.805A>G (p.Ile269Val)
|
|
|
NM_004380.3(CREBBP):c.810T>C (p.Thr270=)
|
|
|
NM_004380.3(CREBBP):c.828_840del (p.Phe276fs)
|
|
|
NM_004380.3(CREBBP):c.85+11G>A
|
|
|
NM_004380.3(CREBBP):c.85+13_85+28del
|
|
|
NM_004380.3(CREBBP):c.85+14C>T
|
|
|
NM_004380.3(CREBBP):c.85+2T>G
|
|
|
NM_004380.3(CREBBP):c.85+7_85+13del
|
|
|
NM_004380.3(CREBBP):c.858G>A (p.Gln286=)
|
|
|
NM_004380.3(CREBBP):c.86-20C>A
|
|
|
NM_004380.3(CREBBP):c.862A>G (p.Met288Val)
|
|
|
NM_004380.3(CREBBP):c.874G>A (p.Gly292Arg)
|
|
|
NM_004380.3(CREBBP):c.875G>T (p.Gly292Val)
|
|
|
NM_004380.3(CREBBP):c.882C>A (p.Asn294Lys)
|
|
|
NM_004380.3(CREBBP):c.907A>G (p.Met303Val)
|
rs1567331335
|
|
NM_004380.3(CREBBP):c.927C>G (p.Thr309=)
|
rs575297081
|
|
NM_004380.3(CREBBP):c.934A>G (p.Thr312Ala)
|
|
|
NM_004380.3(CREBBP):c.941T>C (p.Ile314Thr)
|
|
|
NM_004380.3(CREBBP):c.942C>G (p.Ile314Met)
|
|
|
NM_004380.3(CREBBP):c.955G>A (p.Val319Ile)
|
|
|
NM_004380.3(CREBBP):c.959C>G (p.Thr320Ser)
|
|
|
NM_004380.3(CREBBP):c.966G>A (p.Val322=)
|
|
|
NM_004380.3(CREBBP):c.975+3A>G
|
|
|
NM_004380.3(CREBBP):c.975+9C>A
|
|
|
NM_004380.3(CREBBP):c.976-12G>T
|
|
|
NM_004380.3(CREBBP):c.976-20A>G
|
|
|
NM_004380.3(CREBBP):c.976-4T>G
|
|
|
NM_004380.3(CREBBP):c.976-6T>C
|
|
|
NM_004380.3(CREBBP):c.987A>G (p.Gln329=)
|
rs778596455
|
|
NM_004380.3(CREBBP):c.993A>C (p.Ser331=)
|
|
|