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.4618-18C>T
|
rs2076578
|
0.25729
|
NM_001429.4(EP300):c.4452+20C>T
|
rs6002271
|
0.24366
|
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_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_001429.4(EP300):c.1283-8T>C
|
rs76827562
|
0.01914
|
NM_001429.4(EP300):c.942C>T (p.Gly314=)
|
rs20553
|
0.01913
|
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_001429.4(EP300):c.3426C>T (p.Cys1142=)
|
rs76268515
|
0.01549
|
NM_001429.4(EP300):c.1168+7G>C
|
rs181755354
|
0.00718
|
NM_001429.4(EP300):c.631G>A (p.Gly211Ser)
|
rs142030651
|
0.00646
|
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_001429.4(EP300):c.2064A>G (p.Leu688=)
|
rs61756763
|
0.00282
|
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_001429.4(EP300):c.6636G>A (p.Gln2212=)
|
rs142673005
|
0.00225
|
NM_001429.4(EP300):c.5259C>T (p.Cys1753=)
|
rs148040990
|
0.00172
|
NM_001429.4(EP300):c.1878+9C>G
|
rs186198699
|
0.00138
|
NM_001429.4(EP300):c.5061+10G>A
|
rs78432056
|
0.00135
|
NM_001429.4(EP300):c.5147G>C (p.Ser1716Thr)
|
rs147676363
|
0.00112
|
NM_001429.4(EP300):c.6390G>A (p.Met2130Ile)
|
rs147973806
|
0.00101
|
NM_001429.4(EP300):c.6969C>G (p.Pro2323=)
|
rs111489369
|
0.00100
|
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr)
|
rs145714752
|
0.00072
|
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly)
|
rs146242251
|
0.00070
|
NM_001429.4(EP300):c.316A>G (p.Ser106Gly)
|
rs150245975
|
0.00054
|
NM_001429.4(EP300):c.6417C>T (p.Gly2139=)
|
rs111315183
|
0.00045
|
NM_001429.4(EP300):c.6481A>G (p.Met2161Val)
|
rs188035979
|
0.00029
|
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_001429.4(EP300):c.2242-8T>C
|
rs199931034
|
0.00018
|
NM_001429.4(EP300):c.7161T>C (p.Gly2387=)
|
rs143148170
|
0.00016
|
NM_001429.4(EP300):c.6289C>G (p.Pro2097Ala)
|
rs200189212
|
0.00015
|
NM_001429.4(EP300):c.1782G>C (p.Thr594=)
|
rs17002307
|
0.00013
|
NM_001429.4(EP300):c.4026-7T>C
|
rs187388966
|
0.00012
|
NM_001429.4(EP300):c.376A>G (p.Met126Val)
|
rs200635644
|
0.00011
|
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.4482A>G (p.Arg1494=)
|
rs149471059
|
0.00006
|
NM_001429.4(EP300):c.6950G>A (p.Arg2317Gln)
|
rs149456776
|
0.00006
|
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.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_001429.4(EP300):c.1094A>G (p.Asn365Ser)
|
rs747431211
|
0.00002
|
NM_001429.4(EP300):c.5914A>G (p.Met1972Val)
|
rs373725137
|
0.00002
|
NM_001429.4(EP300):c.1150T>G (p.Ser384Ala)
|
rs377368037
|
0.00001
|
NM_001429.4(EP300):c.2173A>G (p.Ile725Val)
|
rs73885743
|
0.00001
|
NM_001429.4(EP300):c.2609C>T (p.Pro870Leu)
|
rs540935486
|
0.00001
|
NM_001429.4(EP300):c.3615C>G (p.Phe1205Leu)
|
rs587778255
|
0.00001
|
NM_001429.4(EP300):c.5440C>A (p.Arg1814=)
|
rs757325753
|
0.00001
|
NM_001429.4(EP300):c.5601G>A (p.Gln1867=)
|
rs1250353355
|
0.00001
|
NM_001429.4(EP300):c.6526C>T (p.Pro2176Ser)
|
rs779543207
|
0.00001
|
NM_001429.4(EP300):c.6660A>G (p.Pro2220=)
|
rs886038484
|
0.00001
|
NM_001429.4(EP300):c.7139C>T (p.Pro2380Leu)
|
rs587778259
|
0.00001
|
GRCh37/hg19 22q13.2(chr22:41536475-41540761)
|
|
|
NM_001429.4(EP300):c.*10GTA[1]
|
rs35508493
|
|
NM_001429.4(EP300):c.1403A>T (p.Tyr468Phe)
|
rs587778262
|
|
NM_001429.4(EP300):c.1654T>C (p.Ser552Pro)
|
rs587778263
|
|
NM_001429.4(EP300):c.2596C>A (p.Pro866Thr)
|
|
|
NM_001429.4(EP300):c.2627A>T (p.Gln876Leu)
|
rs587778254
|
|
NM_001429.4(EP300):c.2774dup (p.Thr926fs)
|
rs587778253
|
|
NM_001429.4(EP300):c.3143-1G>T
|
rs1230152737
|
|
NM_001429.4(EP300):c.3143-4del
|
rs757931697
|
|
NM_001429.4(EP300):c.3143-4dup
|
rs757931697
|
|
NM_001429.4(EP300):c.3261+3A>G
|
|
|
NM_001429.4(EP300):c.3354C>T (p.Val1118=)
|
rs11704815
|
|
NM_001429.4(EP300):c.3569C>T (p.Thr1190Ile)
|
|
|
NM_001429.4(EP300):c.3772T>C (p.Cys1258Arg)
|
rs2145756430
|
|
NM_001429.4(EP300):c.3807-4T>G
|
rs1337278789
|
|
NM_001429.4(EP300):c.3807-7C>T
|
|
|
NM_001429.4(EP300):c.458T>C (p.Met153Thr)
|
|
|
NM_001429.4(EP300):c.4934_4939del (p.Arg1645_Ala1647delinsPro)
|
|
|
NM_001429.4(EP300):c.5510G>A (p.Arg1837Gln)
|
rs755471385
|
|
NM_001429.4(EP300):c.5552C>T (p.Thr1851Ile)
|
rs587778257
|
|
NM_001429.4(EP300):c.5633C>A (p.Thr1878Asn)
|
rs1484157418
|
|
NM_001429.4(EP300):c.5669C>G (p.Thr1890Ser)
|
rs146165770
|
|
NM_001429.4(EP300):c.5832C>G (p.His1944Gln)
|
rs142885571
|
|
NM_001429.4(EP300):c.6177_6185dup (p.Arg2059_Pro2061dup)
|
rs2145519648
|
|
NM_001429.4(EP300):c.6504G>A (p.Met2168Ile)
|
rs566357328
|
|
NM_001429.4(EP300):c.6586G>A (p.Gly2196Arg)
|
rs587778260
|
|
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys)
|
rs587778256
|
|
NM_001429.4(EP300):c.6722A>G (p.Gln2241Arg)
|
|
|
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)
|
rs533875300
|
|
NM_001429.4(EP300):c.6820C>G (p.Gln2274Glu)
|
|
|
NM_001429.4(EP300):c.6907C>G (p.Leu2303Val)
|
rs144787962
|
|
NM_001429.4(EP300):c.6954_6965del (p.Gln2319_Pro2322del)
|
rs2145523070
|
|
NM_001429.4(EP300):c.7041_7046del (p.His2348_Pro2349del)
|
rs2145523559
|
|
NM_001429.4(EP300):c.7245G>A (p.Ter2415=)
|
rs587783622
|
|
NM_001429.4(EP300):c.730-18_730-9del
|
rs61120041
|
|
NM_001429.4(EP300):c.730-5C>T
|
|
|
NM_001429.4(EP300):c.907-17_907-8del
|
rs797045561
|
|