NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro)
|
rs587783504
|
0.00030
|
NM_004380.3(CREBBP):c.4837G>A (p.Val1613Met)
|
rs766085073
|
0.00004
|
NM_004380.3(CREBBP):c.5188A>G (p.Ile1730Val)
|
rs1159294530
|
0.00001
|
NM_004380.3(CREBBP):c.5356C>T (p.Arg1786Cys)
|
rs1555471394
|
0.00001
|
NC_000016.10:g.(?_3744874)_(3758992_?)del
|
|
|
NC_000016.9:g.(?_3786017)_(3786836_?)dup
|
|
|
NC_000016.9:g.(?_3786631)_(3790570_?)dup
|
|
|
NC_000016.9:g.(?_3829526)_(3830870_?)del
|
|
|
NM_004380.3(CREBBP):c.1094A>C (p.His365Pro)
|
|
|
NM_004380.3(CREBBP):c.1100G>T (p.Cys367Phe)
|
rs1057518498
|
|
NM_004380.3(CREBBP):c.1574-2A>G
|
rs2141248421
|
|
NM_004380.3(CREBBP):c.1625_1649del (p.Pro542fs)
|
rs2141247434
|
|
NM_004380.3(CREBBP):c.1801C>T (p.Arg601Trp)
|
rs1354934373
|
|
NM_004380.3(CREBBP):c.1823T>C (p.Leu608Pro)
|
rs2053254528
|
|
NM_004380.3(CREBBP):c.1824-1G>C
|
|
|
NM_004380.3(CREBBP):c.189del (p.Ala64fs)
|
|
|
NM_004380.3(CREBBP):c.1930G>C (p.Ala644Pro)
|
rs2141237064
|
|
NM_004380.3(CREBBP):c.2031del (p.Ile678fs)
|
rs1555483716
|
|
NM_004380.3(CREBBP):c.2085del (p.Pro696fs)
|
|
|
NM_004380.3(CREBBP):c.2113+1G>C
|
|
|
NM_004380.3(CREBBP):c.2283+1G>T
|
|
|
NM_004380.3(CREBBP):c.2464-1G>A
|
rs2052993075
|
|
NM_004380.3(CREBBP):c.2464-2A>G
|
|
|
NM_004380.3(CREBBP):c.249_251delinsT (p.Pro84fs)
|
rs2141495910
|
|
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)
|
rs143247685
|
|
NM_004380.3(CREBBP):c.3248_3250+4del
|
|
|
NM_004380.3(CREBBP):c.3270dup (p.Arg1091fs)
|
|
|
NM_004380.3(CREBBP):c.3369+1G>T
|
rs587783480
|
|
NM_004380.3(CREBBP):c.3370-2A>G
|
rs866703165
|
|
NM_004380.3(CREBBP):c.3374_3377dup (p.Phe1126fs)
|
|
|
NM_004380.3(CREBBP):c.3418del (p.Arg1140fs)
|
rs2151383848
|
|
NM_004380.3(CREBBP):c.3490G>C (p.Ala1164Pro)
|
rs797045492
|
|
NM_004380.3(CREBBP):c.3495_3575del (p.Trp1165_Val1192delinsCys)
|
rs1596853925
|
|
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys)
|
rs587783481
|
|
NM_004380.3(CREBBP):c.3504_3527del (p.Asn1168_Tyr1175del)
|
|
|
NM_004380.3(CREBBP):c.3512C>G (p.Thr1171Arg)
|
|
|
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.3623dup (p.Gln1209fs)
|
rs2052611239
|
|
NM_004380.3(CREBBP):c.3698G>A (p.Arg1233Lys)
|
rs1057518844
|
|
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr)
|
rs1596839714
|
|
NM_004380.3(CREBBP):c.3743A>T (p.Asn1248Ile)
|
rs1555476935
|
|
NM_004380.3(CREBBP):c.3779+1G>C
|
rs587783483
|
|
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)
|
rs267606752
|
|
NM_004380.3(CREBBP):c.3832G>C (p.Glu1278Gln)
|
rs267606752
|
|
NM_004380.3(CREBBP):c.3882C>G (p.Cys1294Trp)
|
rs1278147369
|
|
NM_004380.3(CREBBP):c.3914+3G>T
|
rs587783485
|
|
NM_004380.3(CREBBP):c.3940A>T (p.Lys1314Ter)
|
rs2151354104
|
|
NM_004380.3(CREBBP):c.3982+3A>T
|
rs1596823180
|
|
NM_004380.3(CREBBP):c.3983-1G>C
|
rs2151341377
|
|
NM_004380.3(CREBBP):c.4022G>C (p.Arg1341Pro)
|
rs587783488
|
|
NM_004380.3(CREBBP):c.4040G>C (p.Arg1347Pro)
|
rs1596813665
|
|
NM_004380.3(CREBBP):c.4067_4071del (p.Glu1356fs)
|
|
|
NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro)
|
rs121434626
|
|
NM_004380.3(CREBBP):c.4134-1G>T
|
rs886041048
|
|
NM_004380.3(CREBBP):c.4145C>T (p.Ser1382Phe)
|
rs149877180
|
|
NM_004380.3(CREBBP):c.4175G>T (p.Arg1392Leu)
|
rs1596812290
|
|
NM_004380.3(CREBBP):c.4184C>A (p.Ala1395Asp)
|
rs1064796948
|
|
NM_004380.3(CREBBP):c.4216G>T (p.Asp1406Tyr)
|
rs2052153254
|
|
NM_004380.3(CREBBP):c.4226T>C (p.Phe1409Ser)
|
rs587783492
|
|
NM_004380.3(CREBBP):c.4262G>T (p.Cys1421Phe)
|
rs200616542
|
|
NM_004380.3(CREBBP):c.4269del (p.Pro1424fs)
|
rs2151336580
|
|
NM_004380.3(CREBBP):c.4277C>G (p.Thr1426Arg)
|
rs145988918
|
|
NM_004380.3(CREBBP):c.4281-11C>G
|
rs587783493
|
|
NM_004380.3(CREBBP):c.4281G>T (p.Arg1427Ser)
|
rs797045494
|
|
NM_004380.3(CREBBP):c.4283G>C (p.Arg1428Pro)
|
rs778448390
|
|
NM_004380.3(CREBBP):c.4297T>C (p.Tyr1433His)
|
rs1596810435
|
|
NM_004380.3(CREBBP):c.4303G>T (p.Asp1435Tyr)
|
rs1596810419
|
|
NM_004380.3(CREBBP):c.4305T>G (p.Asp1435Glu)
|
rs928061320
|
|
NM_004380.3(CREBBP):c.4336C>G (p.Arg1446Gly)
|
rs398124146
|
|
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)
|
rs398124146
|
|
NM_004380.3(CREBBP):c.4337G>A (p.Arg1446His)
|
rs1057519884
|
|
NM_004380.3(CREBBP):c.4337G>T (p.Arg1446Leu)
|
rs1057519884
|
|
NM_004380.3(CREBBP):c.4340C>T (p.Thr1447Ile)
|
rs2151334254
|
|
NM_004380.3(CREBBP):c.4358T>C (p.Ile1453Thr)
|
rs1064795050
|
|
NM_004380.3(CREBBP):c.4376A>G (p.Glu1459Gly)
|
rs587783494
|
|
NM_004380.3(CREBBP):c.4395-2A>C
|
rs2151330226
|
|
NM_004380.3(CREBBP):c.4417G>A (p.Ala1473Thr)
|
rs1596805927
|
|
NM_004380.3(CREBBP):c.4436_4438del (p.Gly1479del)
|
rs1555473122
|
|
NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly)
|
rs886041286
|
|
NM_004380.3(CREBBP):c.4442A>G (p.Asp1481Gly)
|
rs2151329858
|
|
NM_004380.3(CREBBP):c.4445A>G (p.Tyr1482Cys)
|
rs587783496
|
|
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.4471C>A (p.Gln1491Lys)
|
|
|
NM_004380.3(CREBBP):c.4481C>G (p.Pro1494Arg)
|
rs398124147
|
|
NM_004380.3(CREBBP):c.4493G>A (p.Arg1498Gln)
|
rs1567269945
|
|
NM_004380.3(CREBBP):c.4520T>C (p.Leu1507Pro)
|
rs1057520191
|
|
NM_004380.3(CREBBP):c.4613C>T (p.Pro1538Leu)
|
rs1596804126
|
|
NM_004380.3(CREBBP):c.4615T>A (p.Tyr1539Asn)
|
|
|
NM_004380.3(CREBBP):c.4890+2T>C
|
rs786205495
|
|
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del)
|
rs1555471931
|
|
NM_004380.3(CREBBP):c.4991G>A (p.Arg1664His)
|
rs1596791996
|
|
NM_004380.3(CREBBP):c.4991G>T (p.Arg1664Leu)
|
rs1596791996
|
|
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del)
|
rs587783502
|
|
NM_004380.3(CREBBP):c.5050T>C (p.Ser1684Pro)
|
rs587783503
|
|
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.5120G>C (p.Cys1707Ser)
|
rs1064795089
|
|
NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg)
|
rs2051906390
|
|
NM_004380.3(CREBBP):c.5159G>A (p.Cys1720Tyr)
|
rs2051906316
|
|
NM_004380.3(CREBBP):c.5168G>T (p.Cys1723Phe)
|
|
|
NM_004380.3(CREBBP):c.5186G>A (p.Cys1729Tyr)
|
rs2051863859
|
|
NM_004380.3(CREBBP):c.5186G>C (p.Cys1729Ser)
|
rs2051863859
|
|
NM_004380.3(CREBBP):c.5218C>A (p.His1740Asn)
|
rs1596788162
|
|
NM_004380.3(CREBBP):c.5219A>G (p.His1740Arg)
|
rs1567263724
|
|
NM_004380.3(CREBBP):c.5224A>G (p.Met1742Val)
|
|
|
NM_004380.3(CREBBP):c.5237G>T (p.Gly1746Val)
|
rs869312714
|
|
NM_004380.3(CREBBP):c.5315T>A (p.Ile1772Asn)
|
rs2151311733
|
|
NM_004380.3(CREBBP):c.5323T>C (p.Cys1775Arg)
|
rs1057524802
|
|
NM_004380.3(CREBBP):c.5344G>A (p.Ala1782Thr)
|
rs1567263529
|
|
NM_004380.3(CREBBP):c.5345C>T (p.Ala1782Val)
|
rs2051858361
|
|
NM_004380.3(CREBBP):c.5348G>T (p.Cys1783Phe)
|
rs2151311520
|
|
NM_004380.3(CREBBP):c.5356C>G (p.Arg1786Gly)
|
|
|
NM_004380.3(CREBBP):c.5357G>A (p.Arg1786His)
|
rs988251457
|
|
NM_004380.3(CREBBP):c.5357G>C (p.Arg1786Pro)
|
|
|
NM_004380.3(CREBBP):c.5361_5432del (p.Asn1787_Arg1810del)
|
rs1555471385
|
|
NM_004380.3(CREBBP):c.5362G>A (p.Ala1788Thr)
|
rs1064795794
|
|
NM_004380.3(CREBBP):c.5366A>C (p.Asn1789Thr)
|
rs1064794963
|
|
NM_004380.3(CREBBP):c.5366A>G (p.Asn1789Ser)
|
rs1064794963
|
|
NM_004380.3(CREBBP):c.5367C>G (p.Asn1789Lys)
|
rs2151311363
|
|
NM_004380.3(CREBBP):c.5412C>A (p.His1804Gln)
|
rs797045496
|
|
NM_004380.3(CREBBP):c.5482_5484del (p.Tyr1828del)
|
rs1596787459
|
|
NM_004380.3(CREBBP):c.5551C>T (p.Arg1851Cys)
|
rs763253161
|
|
NM_004380.3(CREBBP):c.5558A>C (p.Gln1853Pro)
|
|
|
NM_004380.3(CREBBP):c.5561A>C (p.Gln1854Pro)
|
rs2051852330
|
|
NM_004380.3(CREBBP):c.5563_5583dup (p.Ile1855_Gln1861dup)
|
rs1555471355
|
|
NM_004380.3(CREBBP):c.5570A>C (p.His1857Pro)
|
rs1064795628
|
|
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.5608G>C (p.Ala1870Pro)
|
|
|
NM_004380.3(CREBBP):c.5609CCA[1] (p.Thr1871del)
|
rs2151309510
|
|
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.5623del (p.Arg1875fs)
|
rs1064796056
|
|
NM_004380.3(CREBBP):c.5830dup (p.Ala1944fs)
|
rs1567262786
|
|
NM_004380.3(CREBBP):c.5837del (p.Pro1946fs)
|
rs587783507
|
|
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs)
|
rs587783507
|
|
NM_004380.3(CREBBP):c.5961_5981delinsGCAT (p.Met1988fs)
|
rs2151306905
|
|
NM_004380.3(CREBBP):c.6113_6137dup (p.Ala2047fs)
|
rs1596784713
|
|
NM_004380.3(CREBBP):c.6123del (p.Met2042fs)
|
|
|
NM_004380.3(CREBBP):c.6130_6171del (p.Ala2044_Gln2057del)
|
rs587783511
|
|
NM_004380.3(CREBBP):c.6169C>T (p.Gln2057Ter)
|
|
|
NM_004380.3(CREBBP):c.6185_6195del (p.Ile2062fs)
|
rs1555471098
|
|
NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter)
|
rs886041518
|
|
NM_004380.3(CREBBP):c.6244C>T (p.Gln2082Ter)
|
rs1057518789
|
|
NM_004380.3(CREBBP):c.6250C>T (p.Gln2084Ter)
|
rs2051825168
|
|
NM_004380.3(CREBBP):c.6275C>G (p.Ser2092Ter)
|
rs1555471077
|
|
NM_004380.3(CREBBP):c.6310C>T (p.Arg2104Cys)
|
|
|
NM_004380.3(CREBBP):c.6324C>A (p.Tyr2108Ter)
|
rs199821421
|
|
NM_004380.3(CREBBP):c.6388C>T (p.Gln2130Ter)
|
rs2151304304
|
|
NM_004380.3(CREBBP):c.6988C>T (p.Leu2330Phe)
|
rs1064796531
|
|
NM_004380.3(CREBBP):c.712G>A (p.Val238Met)
|
rs146887252
|
|
NM_004380.3(CREBBP):c.7261_*247delinsC (p.Ser2421_Ter2443delinsXaa)
|
rs1555470631
|
|
NM_004380.3(CREBBP):c.85+1G>A
|
rs1597099388
|
|
NM_004380.3(CREBBP):c.859_860inv (p.Pro287Gly)
|
|
|