NM_004380.3(CREBBP):c.437C>T (p.Ala146Val)
|
rs1295662710
|
0.00001
|
NM_001429.3(EP300):c.3857A>G
|
rs1555910821
|
|
NM_001429.4(EP300):c.104_107del (p.Ser35fs)
|
rs886037664
|
|
NM_001429.4(EP300):c.1606_1610delinsTATGTTGAGCCATAACTGCATGTTGAGCCCA (p.Ala536_Ile537delinsTyrValGluProTer)
|
rs1601610306
|
|
NM_001429.4(EP300):c.1957C>T (p.Gln653Ter)
|
rs1601613391
|
|
NM_001429.4(EP300):c.2251_2257del (p.Tyr751fs)
|
rs1601618876
|
|
NM_001429.4(EP300):c.3367del (p.Met1124fs)
|
rs1601624722
|
|
NM_001429.4(EP300):c.3438_3439del (p.Glu1147fs)
|
rs1601624754
|
|
NM_001429.4(EP300):c.4173G>C (p.Arg1391Ser)
|
rs1464734494
|
|
NM_001429.4(EP300):c.4390C>T (p.Gln1464Ter)
|
rs1601634247
|
|
NM_001429.4(EP300):c.494_497del (p.Met165fs)
|
rs1601598354
|
|
NM_001429.4(EP300):c.4954_4957dup (p.Cys1653fs)
|
rs1555912040
|
|
NM_001429.4(EP300):c.5578_5584del (p.Gly1860fs)
|
rs1601640102
|
|
NM_001429.4(EP300):c.5747dup (p.Pro1917fs)
|
rs1601640370
|
|
NM_001429.4(EP300):c.6607C>G (p.Pro2203Ala)
|
rs1358846937
|
|
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)
|
rs533875300
|
|
NM_001429.4(EP300):c.7244A>G (p.Ter2415Trp)
|
rs1601642812
|
|
NM_004380.3(CREBBP):c.1044del (p.Glu349fs)
|
rs1596948052
|
|
NM_004380.3(CREBBP):c.1069C>T (p.Gln357Ter)
|
rs121434625
|
|
NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter)
|
rs1384496494
|
|
NM_004380.3(CREBBP):c.1124del (p.Gly375fs)
|
rs1596947743
|
|
NM_004380.3(CREBBP):c.1127_1128dup (p.Val377fs)
|
rs1596947732
|
|
NM_004380.3(CREBBP):c.1156C>T (p.Arg386Ter)
|
rs587783461
|
|
NM_004380.3(CREBBP):c.1216+2T>A
|
rs1596947522
|
|
NM_004380.3(CREBBP):c.1225_1231del (p.Cys409fs)
|
rs1596944340
|
|
NM_004380.3(CREBBP):c.1237C>T (p.Arg413Ter)
|
rs1302427305
|
|
NM_004380.3(CREBBP):c.1270C>T (p.Arg424Ter)
|
rs587783464
|
|
NM_004380.3(CREBBP):c.1483C>T (p.Gln495Ter)
|
rs1596920745
|
|
NM_004380.3(CREBBP):c.1549C>T (p.Gln517Ter)
|
rs1596920501
|
|
NM_004380.3(CREBBP):c.1573+1G>A
|
rs1596920360
|
|
NM_004380.3(CREBBP):c.1646C>G (p.Ser549Ter)
|
rs1596917200
|
|
NM_004380.3(CREBBP):c.173_185del (p.Asn58fs)
|
rs1597054837
|
|
NM_004380.3(CREBBP):c.1801C>T (p.Arg601Trp)
|
rs1354934373
|
|
NM_004380.3(CREBBP):c.1824-1G>A
|
rs1596910004
|
|
NM_004380.3(CREBBP):c.1907_1912del (p.Val636_Glu637del)
|
rs1596909791
|
|
NM_004380.3(CREBBP):c.1941+2T>C
|
rs1596909656
|
|
NM_004380.3(CREBBP):c.2159-1G>T
|
rs1596897799
|
|
NM_004380.3(CREBBP):c.2330del (p.Gly777fs)
|
rs1596895500
|
|
NM_004380.3(CREBBP):c.2417T>G (p.Met806Arg)
|
rs1596895058
|
|
NM_004380.3(CREBBP):c.243_244insTA (p.Ile82Ter)
|
rs1597054662
|
|
NM_004380.3(CREBBP):c.2456dup (p.Ser820fs)
|
rs1596894889
|
|
NM_004380.3(CREBBP):c.2713_2719del (p.Ser905fs)
|
rs1596886295
|
|
NM_004380.3(CREBBP):c.2773C>T (p.Gln925Ter)
|
rs1596886132
|
|
NM_004380.3(CREBBP):c.2787dup (p.Pro930fs)
|
rs1596886048
|
|
NM_004380.3(CREBBP):c.2817_2818delinsT (p.Ala940fs)
|
rs1596885894
|
|
NM_004380.3(CREBBP):c.2854_2863dup (p.Gln955fs)
|
rs1596885651
|
|
NM_004380.3(CREBBP):c.2910dup (p.Arg971fs)
|
rs1596882629
|
|
NM_004380.3(CREBBP):c.2911A>T (p.Arg971Ter)
|
rs1374436403
|
|
NM_004380.3(CREBBP):c.3020_3021dup (p.Pro1008fs)
|
rs1596882124
|
|
NM_004380.3(CREBBP):c.3058G>T (p.Glu1020Ter)
|
rs1596882010
|
|
NM_004380.3(CREBBP):c.3060+1G>T
|
rs1596882004
|
|
NM_004380.3(CREBBP):c.3097A>T (p.Lys1033Ter)
|
rs1596878921
|
|
NM_004380.3(CREBBP):c.3168dup (p.Val1057fs)
|
rs1596878700
|
|
NM_004380.3(CREBBP):c.3292del (p.Thr1097_Leu1098insTer)
|
rs1596856390
|
|
NM_004380.3(CREBBP):c.3330_3334del (p.Phe1111fs)
|
rs1596856285
|
|
NM_004380.3(CREBBP):c.3366dup (p.Pro1123fs)
|
rs1596856176
|
|
NM_004380.3(CREBBP):c.3369+1G>T
|
rs587783480
|
|
NM_004380.3(CREBBP):c.3432_3433del (p.Gly1145fs)
|
rs1596854369
|
|
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys)
|
rs28937315
|
|
NM_004380.3(CREBBP):c.3535A>G (p.Ser1179Gly)
|
rs1596854023
|
|
NM_004380.3(CREBBP):c.3610-1G>C
|
rs1596852670
|
|
NM_004380.3(CREBBP):c.3610-2A>G
|
rs1596852674
|
|
NM_004380.3(CREBBP):c.3625C>T (p.Gln1209Ter)
|
rs1596852578
|
|
NM_004380.3(CREBBP):c.3659_3660delinsATGGTA (p.Thr1220fs)
|
rs1596852463
|
|
NM_004380.3(CREBBP):c.3661_3665del (p.Ile1221fs)
|
rs1596852443
|
|
NM_004380.3(CREBBP):c.3690T>G (p.Tyr1230Ter)
|
rs748451307
|
|
NM_004380.3(CREBBP):c.3698+5G>T
|
rs1596852349
|
|
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr)
|
rs1596839714
|
|
NM_004380.3(CREBBP):c.376G>T (p.Gly126Ter)
|
rs1597054242
|
|
NM_004380.3(CREBBP):c.3779+1G>A
|
rs587783483
|
|
NM_004380.3(CREBBP):c.3779+1G>T
|
rs587783483
|
|
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)
|
rs267606752
|
|
NM_004380.3(CREBBP):c.3832del (p.Glu1278fs)
|
rs1596834998
|
|
NM_004380.3(CREBBP):c.3836+1G>A
|
rs200782888
|
|
NM_004380.3(CREBBP):c.3914+1G>A
|
rs1555475352
|
|
NM_004380.3(CREBBP):c.4040G>C (p.Arg1347Pro)
|
rs1596813665
|
|
NM_004380.3(CREBBP):c.4078C>T (p.Arg1360Ter)
|
rs587783490
|
|
NM_004380.3(CREBBP):c.4078dup (p.Arg1360fs)
|
rs1596813570
|
|
NM_004380.3(CREBBP):c.4145C>T (p.Ser1382Phe)
|
rs149877180
|
|
NM_004380.3(CREBBP):c.4174C>T (p.Arg1392Ter)
|
rs1596812306
|
|
NM_004380.3(CREBBP):c.4175G>T (p.Arg1392Leu)
|
rs1596812290
|
|
NM_004380.3(CREBBP):c.4243C>T (p.Gln1415Ter)
|
rs1596812202
|
|
NM_004380.3(CREBBP):c.4277C>G (p.Thr1426Arg)
|
rs145988918
|
|
NM_004380.3(CREBBP):c.4279A>G (p.Arg1427Gly)
|
rs794727401
|
|
NM_004380.3(CREBBP):c.4283G>C (p.Arg1428Pro)
|
rs778448390
|
|
NM_004380.3(CREBBP):c.4290C>A (p.Tyr1430Ter)
|
rs1596810465
|
|
NM_004380.3(CREBBP):c.4297T>C (p.Tyr1433His)
|
rs1596810435
|
|
NM_004380.3(CREBBP):c.4303G>T (p.Asp1435Tyr)
|
rs1596810419
|
|
NM_004380.3(CREBBP):c.4394+3_4394+7del
|
rs1596810185
|
|
NM_004380.3(CREBBP):c.4417G>A (p.Ala1473Thr)
|
rs1596805927
|
|
NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly)
|
rs886041286
|
|
NM_004380.3(CREBBP):c.4458_4459insT (p.His1487fs)
|
rs1596805807
|
|
NM_004380.3(CREBBP):c.4459C>T (p.His1487Tyr)
|
rs1057519207
|
|
NM_004380.3(CREBBP):c.4460A>G (p.His1487Arg)
|
rs1596805792
|
|
NM_004380.3(CREBBP):c.4559A>T (p.Lys1520Met)
|
rs1596805575
|
|
NM_004380.3(CREBBP):c.4613C>T (p.Pro1538Leu)
|
rs1596804126
|
|
NM_004380.3(CREBBP):c.4644_4645del (p.Leu1549fs)
|
rs1555472938
|
|
NM_004380.3(CREBBP):c.4644_4646dup (p.Leu1549dup)
|
rs1596804073
|
|
NM_004380.3(CREBBP):c.4728+2del
|
rs1596803811
|
|
NM_004380.3(CREBBP):c.4890+1G>A
|
rs1596793242
|
|
NM_004380.3(CREBBP):c.494_507del (p.Ser165fs)
|
rs1597053795
|
|
NM_004380.3(CREBBP):c.4991G>A (p.Arg1664His)
|
rs1596791996
|
|
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del)
|
rs587783502
|
|
NM_004380.3(CREBBP):c.5722del (p.Gln1908fs)
|
rs1596786752
|
|
NM_004380.3(CREBBP):c.5790dup (p.Thr1931fs)
|
rs1596786512
|
|
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs)
|
rs587783507
|
|
NM_004380.3(CREBBP):c.5845dup (p.Ala1949fs)
|
rs1596786219
|
|
NM_004380.3(CREBBP):c.5905C>T (p.Gln1969Ter)
|
rs1567262537
|
|
NM_004380.3(CREBBP):c.5986del (p.Ala1996fs)
|
rs1596785514
|
|
NM_004380.3(CREBBP):c.6113_6137del (p.Pro2038fs)
|
rs1596784713
|
|
NM_004380.3(CREBBP):c.6113_6137dup (p.Ala2047fs)
|
rs1596784713
|
|
NM_004380.3(CREBBP):c.613C>T (p.Gln205Ter)
|
rs1597053504
|
|
NM_004380.3(CREBBP):c.6221_6230del (p.Leu2074fs)
|
rs1596784310
|
|
NM_004380.3(CREBBP):c.6395_6417del (p.Gly2132fs)
|
rs797045500
|
|
NM_004380.3(CREBBP):c.662_698del (p.Gly221fs)
|
rs1597053322
|
|
NM_004380.3(CREBBP):c.772A>G (p.Thr258Ala)
|
rs1597053070
|
|
NM_004380.3(CREBBP):c.967_974dup (p.Met325fs)
|
rs1596984633
|
|
NM_004380.3(CREBBP):c.997G>T (p.Gly333Ter)
|
rs1596948165
|
|