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.2019T>C (p.Pro673=)
|
rs2230110
|
0.01054
|
NM_001429.4(EP300):c.631G>A (p.Gly211Ser)
|
rs142030651
|
0.00646
|
NM_001429.4(EP300):c.2064A>G (p.Leu688=)
|
rs61756763
|
0.00282
|
NM_001429.4(EP300):c.865A>G (p.Met289Val)
|
rs2230111
|
0.00258
|
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_001429.4(EP300):c.6210G>A (p.Val2070=)
|
rs11912899
|
0.00142
|
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_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.3143-9T>C
|
rs199773872
|
0.00083
|
NM_001429.4(EP300):c.2656C>T (p.Pro886Ser)
|
rs148308496
|
0.00074
|
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly)
|
rs146242251
|
0.00070
|
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_001429.4(EP300):c.316A>G (p.Ser106Gly)
|
rs150245975
|
0.00054
|
NM_001429.4(EP300):c.5364C>T (p.Leu1788=)
|
rs143551315
|
0.00049
|
NM_001429.4(EP300):c.2568A>G (p.Ala856=)
|
rs145037345
|
0.00045
|
NM_001429.4(EP300):c.6417C>T (p.Gly2139=)
|
rs111315183
|
0.00045
|
NM_001429.4(EP300):c.739A>G (p.Met247Val)
|
rs147583157
|
0.00041
|
NM_001429.4(EP300):c.6481A>G (p.Met2161Val)
|
rs188035979
|
0.00029
|
NM_001429.4(EP300):c.4724A>G (p.Asn1575Ser)
|
rs144547088
|
0.00026
|
NM_001429.4(EP300):c.5808G>A (p.Ala1936=)
|
rs144798492
|
0.00024
|
NM_001429.4(EP300):c.2110C>T (p.Pro704Ser)
|
rs149858781
|
0.00022
|
NM_001429.4(EP300):c.444G>A (p.Thr148=)
|
rs376779611
|
0.00022
|
NM_001429.4(EP300):c.1608C>A (p.Ala536=)
|
rs370568560
|
0.00020
|
NM_001429.4(EP300):c.324C>T (p.Ala108=)
|
rs138876937
|
0.00020
|
NM_001429.4(EP300):c.1104C>T (p.His368=)
|
rs78045947
|
0.00018
|
NM_001429.4(EP300):c.2242-8T>C
|
rs199931034
|
0.00018
|
NM_001429.4(EP300):c.7177C>G (p.Leu2393Val)
|
rs377508897
|
0.00018
|
NM_001429.4(EP300):c.2765C>T (p.Ala922Val)
|
rs150389014
|
0.00016
|
NM_001429.4(EP300):c.4026G>A (p.Arg1342=)
|
rs146119145
|
0.00016
|
NM_001429.4(EP300):c.4752A>G (p.Leu1584=)
|
rs146147293
|
0.00016
|
NM_001429.4(EP300):c.513G>A (p.Ala171=)
|
rs146041458
|
0.00016
|
NM_001429.4(EP300):c.5711A>C (p.Gln1904Pro)
|
rs140187237
|
0.00016
|
NM_001429.4(EP300):c.6684G>A (p.Gln2228=)
|
rs148504625
|
0.00016
|
NM_001429.4(EP300):c.6917A>G (p.Gln2306Arg)
|
rs140300789
|
0.00016
|
NM_001429.4(EP300):c.7161T>C (p.Gly2387=)
|
rs143148170
|
0.00016
|
NM_001429.4(EP300):c.5565A>G (p.Pro1855=)
|
rs150532830
|
0.00015
|
NM_001429.4(EP300):c.5604G>A (p.Thr1868=)
|
rs200795114
|
0.00015
|
NM_001429.4(EP300):c.6289C>G (p.Pro2097Ala)
|
rs200189212
|
0.00015
|
NM_001429.4(EP300):c.3537C>A (p.Gly1179=)
|
rs148939960
|
0.00014
|
NM_001429.4(EP300):c.5361C>T (p.Ala1787=)
|
rs200552141
|
0.00014
|
NM_001429.4(EP300):c.1539T>C (p.Pro513=)
|
rs377140865
|
0.00013
|
NM_001429.4(EP300):c.1782G>C (p.Thr594=)
|
rs17002307
|
0.00013
|
NM_001429.4(EP300):c.2645C>G (p.Pro882Arg)
|
rs772707021
|
0.00012
|
NM_001429.4(EP300):c.448T>C (p.Ser150Pro)
|
rs138241570
|
0.00012
|
NM_001429.4(EP300):c.157T>C (p.Leu53=)
|
rs147566983
|
0.00011
|
NM_001429.4(EP300):c.2351C>T (p.Pro784Leu)
|
rs201480900
|
0.00011
|
NM_001429.4(EP300):c.2352G>A (p.Pro784=)
|
rs140684440
|
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_001429.4(EP300):c.2668A>C (p.Thr890Pro)
|
rs577396026
|
0.00010
|
NM_001429.4(EP300):c.3143-7T>G
|
rs778277906
|
0.00010
|
NM_001429.4(EP300):c.5454G>C (p.Leu1818=)
|
rs148026063
|
0.00010
|
NM_001429.4(EP300):c.6311C>G (p.Pro2104Arg)
|
rs138584705
|
0.00010
|
NM_001429.4(EP300):c.7017C>T (p.His2339=)
|
rs759571982
|
0.00010
|
NM_001429.4(EP300):c.7167C>T (p.Ser2389=)
|
rs150845823
|
0.00010
|
NM_001429.4(EP300):c.1572G>A (p.Thr524=)
|
rs746398873
|
0.00009
|
NM_001429.4(EP300):c.3591-6C>T
|
rs368437789
|
0.00009
|
NM_001429.4(EP300):c.586A>G (p.Ile196Val)
|
rs148693910
|
0.00009
|
NM_001429.4(EP300):c.6315C>T (p.Gly2105=)
|
rs528866215
|
0.00009
|
NM_001429.4(EP300):c.2671A>C (p.Thr891Pro)
|
rs200499648
|
0.00008
|
NM_001429.4(EP300):c.6934C>T (p.Pro2312Ser)
|
rs137935821
|
0.00008
|
NM_001429.4(EP300):c.752A>G (p.Asn251Ser)
|
rs142009367
|
0.00008
|
NM_001429.4(EP300):c.2245A>G (p.Met749Val)
|
rs370478867
|
0.00007
|
NM_001429.4(EP300):c.5832C>T (p.His1944=)
|
rs142885571
|
0.00007
|
NM_001429.4(EP300):c.6406A>G (p.Met2136Val)
|
rs372874467
|
0.00007
|
NM_001429.4(EP300):c.6414G>A (p.Ala2138=)
|
rs374679651
|
0.00007
|
NM_001429.4(EP300):c.1540A>G (p.Met514Val)
|
rs765266179
|
0.00006
|
NM_001429.4(EP300):c.3377A>G (p.Asn1126Ser)
|
rs777847755
|
0.00006
|
NM_001429.4(EP300):c.3750C>T (p.Cys1250=)
|
rs747187417
|
0.00006
|
NM_001429.4(EP300):c.4214G>A (p.Arg1405His)
|
rs138855106
|
0.00006
|
NM_001429.4(EP300):c.4482A>G (p.Arg1494=)
|
rs149471059
|
0.00006
|
NM_001429.4(EP300):c.5568G>A (p.Thr1856=)
|
rs202043101
|
0.00006
|
NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu)
|
rs144626200
|
0.00006
|
NM_001429.4(EP300):c.6649G>A (p.Val2217Ile)
|
rs368554118
|
0.00006
|
NM_001429.4(EP300):c.6912C>T (p.Ser2304=)
|
rs113329190
|
0.00006
|
NM_001429.4(EP300):c.7114A>G (p.Met2372Val)
|
rs768061933
|
0.00006
|
NM_001429.4(EP300):c.4624A>G (p.Lys1542Glu)
|
rs374162524
|
0.00005
|
NM_001429.4(EP300):c.5391G>A (p.Gln1797=)
|
rs1014464615
|
0.00005
|
NM_001429.4(EP300):c.6922C>T (p.Arg2308Cys)
|
rs145312648
|
0.00005
|
NM_001429.4(EP300):c.2359G>A (p.Gly787Ser)
|
rs564786569
|
0.00004
|
NM_001429.4(EP300):c.2419A>G (p.Ile807Val)
|
rs201054979
|
0.00004
|
NM_001429.4(EP300):c.2756G>A (p.Ser919Asn)
|
rs141403873
|
0.00004
|
NM_001429.4(EP300):c.4347T>C (p.His1449=)
|
rs137986257
|
0.00004
|
NM_001429.4(EP300):c.5028T>C (p.His1676=)
|
rs747152661
|
0.00004
|
NM_001429.4(EP300):c.781C>T (p.Pro261Ser)
|
rs753462821
|
0.00004
|
NM_001429.4(EP300):c.2241G>A (p.Pro747=)
|
rs759604286
|
0.00003
|
NM_001429.4(EP300):c.2393G>A (p.Ser798Asn)
|
rs781326261
|
0.00003
|
NM_001429.4(EP300):c.2572A>G (p.Thr858Ala)
|
rs201030855
|
0.00003
|
NM_001429.4(EP300):c.2594C>T (p.Thr865Ile)
|
rs754168978
|
0.00003
|
NM_001429.4(EP300):c.6091C>T (p.Pro2031Ser)
|
rs199650847
|
0.00003
|
NM_001429.4(EP300):c.6413C>T (p.Ala2138Val)
|
rs587778258
|
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.1781C>T (p.Thr594Met)
|
rs750740148
|
0.00002
|
NM_001429.4(EP300):c.4235C>T (p.Ala1412Val)
|
rs887226313
|
0.00002
|
NM_001429.4(EP300):c.579C>T (p.Asn193=)
|
rs376004661
|
0.00002
|
NM_001429.4(EP300):c.907-10T>C
|
rs772628747
|
0.00002
|
NM_001429.4(EP300):c.1150T>G (p.Ser384Ala)
|
rs377368037
|
0.00001
|
NM_001429.4(EP300):c.12T>C (p.Asn4=)
|
rs758604225
|
0.00001
|
NM_001429.4(EP300):c.1453C>A (p.Gln485Lys)
|
rs772407988
|
0.00001
|
NM_001429.4(EP300):c.1998A>G (p.Pro666=)
|
rs1451165837
|
0.00001
|
NM_001429.4(EP300):c.2145T>C (p.Phe715=)
|
rs750344330
|
0.00001
|
NM_001429.4(EP300):c.214C>A (p.Gln72Lys)
|
rs539635560
|
0.00001
|
NM_001429.4(EP300):c.2213A>G (p.Gln738Arg)
|
rs766858607
|
0.00001
|
NM_001429.4(EP300):c.2279A>G (p.Asn760Ser)
|
rs374502005
|
0.00001
|
NM_001429.4(EP300):c.2348C>T (p.Ala783Val)
|
rs755619355
|
0.00001
|
NM_001429.4(EP300):c.2609C>T (p.Pro870Leu)
|
rs540935486
|
0.00001
|
NM_001429.4(EP300):c.271C>T (p.Pro91Ser)
|
rs138538553
|
0.00001
|
NM_001429.4(EP300):c.4509T>C (p.Tyr1503=)
|
rs373428278
|
0.00001
|
NM_001429.4(EP300):c.5280G>A (p.Lys1760=)
|
rs148892028
|
0.00001
|
NM_001429.4(EP300):c.5440C>A (p.Arg1814=)
|
rs757325753
|
0.00001
|
NM_001429.4(EP300):c.5869C>T (p.Pro1957Ser)
|
rs1301322622
|
0.00001
|
NM_001429.4(EP300):c.5966T>G (p.Met1989Arg)
|
rs760421892
|
0.00001
|
NM_001429.4(EP300):c.6020A>G (p.Gln2007Arg)
|
rs763892493
|
0.00001
|
NM_001429.4(EP300):c.650A>G (p.Asn217Ser)
|
rs139130083
|
0.00001
|
NM_001429.4(EP300):c.6660A>G (p.Pro2220=)
|
rs886038484
|
0.00001
|
NM_001429.4(EP300):c.6967C>T (p.Pro2323Ser)
|
rs201369756
|
0.00001
|
NM_001429.3(EP300):c.3857A>G
|
rs1555910821
|
|
NM_001429.4(EP300):c.*10GTA[1]
|
rs35508493
|
|
NM_001429.4(EP300):c.*6C>T
|
rs544616799
|
|
NM_001429.4(EP300):c.-9G>T
|
|
|
NM_001429.4(EP300):c.1168+10C>T
|
|
|
NM_001429.4(EP300):c.1285A>G (p.Ile429Val)
|
|
|
NM_001429.4(EP300):c.1287T>G (p.Ile429Met)
|
|
|
NM_001429.4(EP300):c.1334T>A (p.Val445Glu)
|
|
|
NM_001429.4(EP300):c.1449A>C (p.Gln483His)
|
|
|
NM_001429.4(EP300):c.1467G>T (p.Lys489Asn)
|
|
|
NM_001429.4(EP300):c.1529-4T>G
|
|
|
NM_001429.4(EP300):c.1594A>G (p.Met532Val)
|
|
|
NM_001429.4(EP300):c.1638A>G (p.Glu546=)
|
|
|
NM_001429.4(EP300):c.1709A>G (p.Gln570Arg)
|
|
|
NM_001429.4(EP300):c.170A>G (p.Asn57Ser)
|
|
|
NM_001429.4(EP300):c.1931T>G (p.Leu644Arg)
|
|
|
NM_001429.4(EP300):c.1972C>A (p.Leu658Ile)
|
|
|
NM_001429.4(EP300):c.1983T>C (p.Ala661=)
|
|
|
NM_001429.4(EP300):c.2020A>G (p.Asn674Asp)
|
|
|
NM_001429.4(EP300):c.2034G>A (p.Pro678=)
|
|
|
NM_001429.4(EP300):c.2053+8_2053+11del
|
|
|
NM_001429.4(EP300):c.2077A>G (p.Met693Val)
|
|
|
NM_001429.4(EP300):c.2083C>T (p.Arg695Cys)
|
|
|
NM_001429.4(EP300):c.2104A>G (p.Met702Val)
|
|
|
NM_001429.4(EP300):c.2132-9T>C
|
|
|
NM_001429.4(EP300):c.2181C>T (p.Pro727=)
|
|
|
NM_001429.4(EP300):c.2183G>A (p.Arg728Gln)
|
|
|
NM_001429.4(EP300):c.2184G>T (p.Arg728=)
|
|
|
NM_001429.4(EP300):c.2224C>T (p.Pro742Ser)
|
|
|
NM_001429.4(EP300):c.2232T>G (p.Ala744=)
|
|
|
NM_001429.4(EP300):c.2242-3C>A
|
|
|
NM_001429.4(EP300):c.2242-4T>C
|
|
|
NM_001429.4(EP300):c.2242-5_2242-4dup
|
|
|
NM_001429.4(EP300):c.2283G>A (p.Gln761=)
|
|
|
NM_001429.4(EP300):c.231A>G (p.Lys77=)
|
|
|
NM_001429.4(EP300):c.2350C>G (p.Pro784Ala)
|
|
|
NM_001429.4(EP300):c.238C>G (p.Gln80Glu)
|
|
|
NM_001429.4(EP300):c.2405C>G (p.Pro802Arg)
|
|
|
NM_001429.4(EP300):c.2498C>T (p.Ser833Leu)
|
rs1803789601
|
|
NM_001429.4(EP300):c.2505A>G (p.Val835=)
|
|
|
NM_001429.4(EP300):c.2534C>G (p.Thr845Ser)
|
|
|
NM_001429.4(EP300):c.2563C>T (p.Pro855Ser)
|
|
|
NM_001429.4(EP300):c.2565A>G (p.Pro855=)
|
|
|
NM_001429.4(EP300):c.2640C>G (p.Pro880=)
|
|
|
NM_001429.4(EP300):c.2641C>T (p.Pro881Ser)
|
|
|
NM_001429.4(EP300):c.2657C>T (p.Pro886Leu)
|
|
|
NM_001429.4(EP300):c.2676A>G (p.Gln892=)
|
|
|
NM_001429.4(EP300):c.2713C>A (p.Pro905Thr)
|
|
|
NM_001429.4(EP300):c.2789C>T (p.Pro930Leu)
|
|
|
NM_001429.4(EP300):c.2801C>T (p.Pro934Leu)
|
|
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NM_001429.4(EP300):c.29C>G (p.Pro10Arg)
|
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NM_001429.4(EP300):c.311T>C (p.Met104Thr)
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NM_001429.4(EP300):c.3191C>T (p.Ala1064Val)
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NM_001429.4(EP300):c.31C>T (p.Pro11Ser)
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NM_001429.4(EP300):c.3354C>G (p.Val1118=)
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NM_001429.4(EP300):c.3354C>T (p.Val1118=)
|
rs11704815
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NM_001429.4(EP300):c.3355G>A (p.Asp1119Asn)
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NM_001429.4(EP300):c.3451C>T (p.Gln1151Ter)
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NM_001429.4(EP300):c.3476_3501+41del
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NM_001429.4(EP300):c.3590+4A>T
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NM_001429.4(EP300):c.3591-3C>T
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NM_001429.4(EP300):c.3624C>A (p.Ile1208=)
|
rs143660871
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NM_001429.4(EP300):c.3624C>T (p.Ile1208=)
|
rs143660871
|
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NM_001429.4(EP300):c.362T>C (p.Met121Thr)
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NM_001429.4(EP300):c.3690A>G (p.Gln1230=)
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NM_001429.4(EP300):c.3704A>G (p.Lys1235Arg)
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NM_001429.4(EP300):c.3729-8T>C
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NM_001429.4(EP300):c.3751G>A (p.Gly1251Arg)
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NM_001429.4(EP300):c.383A>T (p.Gln128Leu)
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NM_001429.4(EP300):c.3866C>G (p.Ser1289Cys)
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NM_001429.4(EP300):c.3947C>G (p.Pro1316Arg)
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NM_001429.4(EP300):c.394A>T (p.Thr132Ser)
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NM_001429.4(EP300):c.3971G>A (p.Arg1324Lys)
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rs1487546042
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NM_001429.4(EP300):c.3983C>G (p.Ala1328Gly)
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NM_001429.4(EP300):c.3996C>T (p.Thr1332=)
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rs142288817
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NM_001429.4(EP300):c.4009C>G (p.Pro1337Ala)
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NM_001429.4(EP300):c.4070_4092del (p.Thr1357fs)
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NM_001429.4(EP300):c.4096A>G (p.Ile1366Val)
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NM_001429.4(EP300):c.4131T>C (p.His1377=)
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NM_001429.4(EP300):c.4173-4A>G
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NM_001429.4(EP300):c.4191C>T (p.Tyr1397=)
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NM_001429.4(EP300):c.4353T>C (p.His1451=)
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NM_001429.4(EP300):c.4378C>T (p.Pro1460Ser)
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NM_001429.4(EP300):c.4439T>C (p.Val1480Ala)
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NM_001429.4(EP300):c.444G>C (p.Thr148=)
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rs376779611
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NM_001429.4(EP300):c.4578_4581del (p.Arg1527fs)
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NM_001429.4(EP300):c.4602C>T (p.Ser1534=)
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NM_001429.4(EP300):c.4617+9A>C
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NM_001429.4(EP300):c.4623C>T (p.Thr1541=)
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NM_001429.4(EP300):c.4650GAA[1] (p.Lys1551del)
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NM_001429.4(EP300):c.4687C>T (p.Leu1563=)
|
rs564848230
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NM_001429.4(EP300):c.4734C>T (p.Asn1578=)
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|
NM_001429.4(EP300):c.4780-11_4780-8del
|
rs748277415
|
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NM_001429.4(EP300):c.4783T>G (p.Phe1595Val)
|
rs1057517732
|
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NM_001429.4(EP300):c.478C>T (p.Gln160Ter)
|
|
|
NM_001429.4(EP300):c.4798C>G (p.Leu1600Val)
|
rs140154690
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NM_001429.4(EP300):c.4863C>T (p.Cys1621=)
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NM_001429.4(EP300):c.4887G>T (p.Ala1629=)
|
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NM_001429.4(EP300):c.4920G>A (p.Glu1640=)
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NM_001429.4(EP300):c.494T>C (p.Met165Thr)
|
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NM_001429.4(EP300):c.4971G>A (p.Glu1657=)
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NM_001429.4(EP300):c.4993C>T (p.Arg1665Cys)
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NM_001429.4(EP300):c.4999G>C (p.Val1667Leu)
|
rs2059201116
|
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NM_001429.4(EP300):c.5007C>G (p.Thr1669=)
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NM_001429.4(EP300):c.5169C>T (p.Ala1723=)
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NM_001429.4(EP300):c.5255A>G (p.Asn1752Ser)
|
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NM_001429.4(EP300):c.5331C>T (p.Gly1777=)
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NM_001429.4(EP300):c.5406G>A (p.Pro1802=)
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NM_001429.4(EP300):c.5559C>A (p.Ala1853=)
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NM_001429.4(EP300):c.5591C>G (p.Thr1864Ser)
|
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NM_001429.4(EP300):c.5597C>T (p.Pro1866Leu)
|
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NM_001429.4(EP300):c.5636C>T (p.Pro1879Leu)
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NM_001429.4(EP300):c.5669C>G (p.Thr1890Ser)
|
rs146165770
|
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NM_001429.4(EP300):c.5685T>C (p.Pro1895=)
|
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NM_001429.4(EP300):c.5726C>A (p.Thr1909Asn)
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NM_001429.4(EP300):c.5784G>C (p.Met1928Ile)
|
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NM_001429.4(EP300):c.5805A>G (p.Ala1935=)
|
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|
NM_001429.4(EP300):c.5873C>T (p.Pro1958Leu)
|
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NM_001429.4(EP300):c.5874G>T (p.Pro1958=)
|
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NM_001429.4(EP300):c.5934G>A (p.Gly1978=)
|
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NM_001429.4(EP300):c.5958G>A (p.Pro1986=)
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NM_001429.4(EP300):c.5979A>G (p.Pro1993=)
|
|
|
NM_001429.4(EP300):c.6002C>T (p.Pro2001Leu)
|
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|
NM_001429.4(EP300):c.6016C>T (p.Leu2006=)
|
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|
NM_001429.4(EP300):c.6028A>T (p.Met2010Leu)
|
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|
NM_001429.4(EP300):c.6038C>T (p.Pro2013Leu)
|
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|
NM_001429.4(EP300):c.6083C>T (p.Ala2028Val)
|
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|
NM_001429.4(EP300):c.6163T>C (p.Leu2055=)
|
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NM_001429.4(EP300):c.6192C>A (p.Pro2064=)
|
|
|
NM_001429.4(EP300):c.6279C>T (p.Ala2093=)
|
|
|
NM_001429.4(EP300):c.6294A>G (p.Gln2098=)
|
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|
NM_001429.4(EP300):c.6300C>T (p.Ile2100=)
|
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|
NM_001429.4(EP300):c.6323A>C (p.Gln2108Pro)
|
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NM_001429.4(EP300):c.6369G>A (p.Gly2123=)
|
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NM_001429.4(EP300):c.6378C>T (p.Ser2126=)
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NM_001429.4(EP300):c.6418G>A (p.Val2140Ile)
|
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|
NM_001429.4(EP300):c.6435_6446dup (p.Gln2153_Leu2154insProGlnGlnGln)
|
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|
NM_001429.4(EP300):c.6449_6460del (p.2146PQQQ[1])
|
rs758586599
|
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NM_001429.4(EP300):c.6455_6466dup (p.Gln2155_Pro2156insGlnGlnLeuGln)
|
|
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NM_001429.4(EP300):c.6508A>G (p.Met2170Val)
|
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|
NM_001429.4(EP300):c.6516C>A (p.His2172Gln)
|
rs139382344
|
|
NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del)
|
rs875989807
|
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NM_001429.4(EP300):c.6592G>A (p.Gly2198Arg)
|
|
|
NM_001429.4(EP300):c.6600A>G (p.Gly2200=)
|
|
|
NM_001429.4(EP300):c.6607C>G (p.Pro2203Ala)
|
rs1358846937
|
|
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys)
|
rs587778256
|
|
NM_001429.4(EP300):c.6646G>A (p.Gly2216Arg)
|
|
|
NM_001429.4(EP300):c.6659C>G (p.Pro2220Arg)
|
|
|
NM_001429.4(EP300):c.6662C>T (p.Pro2221Leu)
|
|
|
NM_001429.4(EP300):c.667C>G (p.Leu223Val)
|
rs746720991
|
|
NM_001429.4(EP300):c.6696A>G (p.Gln2232=)
|
|
|
NM_001429.4(EP300):c.6703C>A (p.Gln2235Lys)
|
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|
NM_001429.4(EP300):c.6720A>G (p.Gly2240=)
|
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|
NM_001429.4(EP300):c.6788G>A (p.Arg2263Gln)
|
|
|
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)
|
rs533875300
|
|
NM_001429.4(EP300):c.6801A>G (p.Gln2267=)
|
|
|
NM_001429.4(EP300):c.6822G>A (p.Gln2274=)
|
|
|
NM_001429.4(EP300):c.6874C>G (p.Pro2292Ala)
|
|
|
NM_001429.4(EP300):c.695G>C (p.Gly232Ala)
|
rs1261612920
|
|
NM_001429.4(EP300):c.6970C>G (p.His2324Asp)
|
|
|
NM_001429.4(EP300):c.7015C>T (p.His2339Tyr)
|
|
|
NM_001429.4(EP300):c.713G>A (p.Gly238Asp)
|
|
|
NM_001429.4(EP300):c.7142G>A (p.Gly2381Asp)
|
|
|
NM_001429.4(EP300):c.7173G>A (p.Thr2391=)
|
|
|
NM_001429.4(EP300):c.7197C>T (p.Asn2399=)
|
|
|
NM_001429.4(EP300):c.721C>T (p.Pro241Ser)
|
|
|
NM_001429.4(EP300):c.7230A>G (p.Thr2410=)
|
|
|
NM_001429.4(EP300):c.726T>C (p.Leu242=)
|
|
|
NM_001429.4(EP300):c.730-18_730-9del
|
rs61120041
|
|
NM_001429.4(EP300):c.730-5C>T
|
|
|
NM_001429.4(EP300):c.730-7_730-2del
|
rs762256767
|
|
NM_001429.4(EP300):c.735A>C (p.Gly245=)
|
|
|
NM_001429.4(EP300):c.772A>G (p.Thr258Ala)
|
|
|
NM_001429.4(EP300):c.795T>G (p.Ile265Met)
|
|
|
NM_001429.4(EP300):c.853T>C (p.Ser285Pro)
|
|
|
NM_001429.4(EP300):c.901A>G (p.Asn301Asp)
|
|
|
NM_001429.4(EP300):c.907-9A>G
|
|
|