NM_001429.4(EP300):c.5914A>G (p.Met1972Val)
|
rs373725137
|
0.00002
|
NM_001429.4(EP300):c.169A>G (p.Asn57Asp)
|
rs1186074560
|
0.00001
|
NM_001429.4(EP300):c.2078T>C (p.Met693Thr)
|
rs199636064
|
0.00001
|
NM_001429.4(EP300):c.302G>A (p.Gly101Asp)
|
rs879722959
|
0.00001
|
NM_001429.4(EP300):c.307G>A (p.Val103Ile)
|
rs1193355188
|
0.00001
|
NM_001429.4(EP300):c.359G>A (p.Ser120Asn)
|
rs1303897359
|
0.00001
|
NM_001429.4(EP300):c.3615C>G (p.Phe1205Leu)
|
rs587778255
|
0.00001
|
NM_001429.4(EP300):c.4339A>G (p.Ile1447Val)
|
rs1448116681
|
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.6526C>T (p.Pro2176Ser)
|
rs779543207
|
0.00001
|
NM_001429.4(EP300):c.104C>G (p.Ser35Cys)
|
rs2145696235
|
|
NM_001429.4(EP300):c.1226A>G (p.His409Arg)
|
|
|
NM_001429.4(EP300):c.1282C>T (p.Pro428Ser)
|
|
|
NM_001429.4(EP300):c.1352C>A (p.Pro451His)
|
|
|
NM_001429.4(EP300):c.1357C>G (p.Leu453Val)
|
|
|
NM_001429.4(EP300):c.1372C>G (p.Gln458Glu)
|
|
|
NM_001429.4(EP300):c.1403A>T (p.Tyr468Phe)
|
rs587778262
|
|
NM_001429.4(EP300):c.1420C>T (p.Pro474Ser)
|
|
|
NM_001429.4(EP300):c.1443_1444delinsAC (p.Thr482Pro)
|
|
|
NM_001429.4(EP300):c.1456G>C (p.Val486Leu)
|
|
|
NM_001429.4(EP300):c.1465A>G (p.Lys489Glu)
|
|
|
NM_001429.4(EP300):c.151A>G (p.Thr51Ala)
|
|
|
NM_001429.4(EP300):c.1553G>A (p.Gly518Glu)
|
|
|
NM_001429.4(EP300):c.1553G>C (p.Gly518Ala)
|
|
|
NM_001429.4(EP300):c.1654T>C (p.Ser552Pro)
|
rs587778263
|
|
NM_001429.4(EP300):c.1663C>T (p.Pro555Ser)
|
|
|
NM_001429.4(EP300):c.1672A>T (p.Thr558Ser)
|
rs1057519397
|
|
NM_001429.4(EP300):c.1673C>G (p.Thr558Arg)
|
|
|
NM_001429.4(EP300):c.1681C>G (p.Gln561Glu)
|
|
|
NM_001429.4(EP300):c.170A>G (p.Asn57Ser)
|
|
|
NM_001429.4(EP300):c.1761C>T (p.Leu587=)
|
|
|
NM_001429.4(EP300):c.1810C>T (p.Arg604Trp)
|
|
|
NM_001429.4(EP300):c.189G>C (p.Gln63His)
|
|
|
NM_001429.4(EP300):c.1989C>T (p.Gly663=)
|
rs1291428868
|
|
NM_001429.4(EP300):c.1996C>T (p.Pro666Ser)
|
|
|
NM_001429.4(EP300):c.2023A>G (p.Met675Val)
|
|
|
NM_001429.4(EP300):c.2041G>A (p.Gly681Arg)
|
|
|
NM_001429.4(EP300):c.2052T>G (p.Ser684=)
|
|
|
NM_001429.4(EP300):c.2053+5G>C
|
|
|
NM_001429.4(EP300):c.2104A>G (p.Met702Val)
|
|
|
NM_001429.4(EP300):c.2122C>A (p.Pro708Thr)
|
|
|
NM_001429.4(EP300):c.2167C>A (p.Pro723Thr)
|
|
|
NM_001429.4(EP300):c.2188A>G (p.Thr730Ala)
|
|
|
NM_001429.4(EP300):c.2191C>T (p.Pro731Ser)
|
|
|
NM_001429.4(EP300):c.2203C>T (p.His735Tyr)
|
|
|
NM_001429.4(EP300):c.2261G>A (p.Arg754His)
|
rs544338126
|
|
NM_001429.4(EP300):c.2261G>C (p.Arg754Pro)
|
|
|
NM_001429.4(EP300):c.2261G>T (p.Arg754Leu)
|
|
|
NM_001429.4(EP300):c.2279A>T (p.Asn760Ile)
|
|
|
NM_001429.4(EP300):c.2302A>G (p.Thr768Ala)
|
|
|
NM_001429.4(EP300):c.2462A>T (p.Gln821Leu)
|
|
|
NM_001429.4(EP300):c.2507C>T (p.Pro836Leu)
|
|
|
NM_001429.4(EP300):c.2539C>G (p.Pro847Ala)
|
|
|
NM_001429.4(EP300):c.2548G>T (p.Gly850Trp)
|
|
|
NM_001429.4(EP300):c.2567CAA[2] (p.Thr858del)
|
|
|
NM_001429.4(EP300):c.2567CAA[4] (p.Thr858_Ile859insThr)
|
|
|
NM_001429.4(EP300):c.2591C>T (p.Pro864Leu)
|
|
|
NM_001429.4(EP300):c.2641C>T (p.Pro881Ser)
|
|
|
NM_001429.4(EP300):c.2647A>G (p.Arg883Gly)
|
rs2059034589
|
|
NM_001429.4(EP300):c.2657C>G (p.Pro886Arg)
|
|
|
NM_001429.4(EP300):c.2720C>T (p.Ala907Val)
|
|
|
NM_001429.4(EP300):c.28C>T (p.Pro10Ser)
|
rs2145665490
|
|
NM_001429.4(EP300):c.3143-3A>T
|
rs749597275
|
|
NM_001429.4(EP300):c.3178C>T (p.Pro1060Ser)
|
rs2059069019
|
|
NM_001429.4(EP300):c.320A>G (p.Gln107Arg)
|
|
|
NM_001429.4(EP300):c.3261+3A>G
|
|
|
NM_001429.4(EP300):c.3310A>G (p.Arg1104Gly)
|
|
|
NM_001429.4(EP300):c.3397C>T (p.Arg1133Trp)
|
|
|
NM_001429.4(EP300):c.3458T>A (p.Ile1153Asn)
|
|
|
NM_001429.4(EP300):c.3464C>T (p.Pro1155Leu)
|
|
|
NM_001429.4(EP300):c.3553A>G (p.Ile1185Val)
|
|
|
NM_001429.4(EP300):c.3568A>G (p.Thr1190Ala)
|
|
|
NM_001429.4(EP300):c.3590+4A>T
|
|
|
NM_001429.4(EP300):c.3624C>G (p.Ile1208Met)
|
rs143660871
|
|
NM_001429.4(EP300):c.3625C>G (p.Gln1209Glu)
|
|
|
NM_001429.4(EP300):c.3686A>G (p.Glu1229Gly)
|
|
|
NM_001429.4(EP300):c.3728T>A (p.Leu1243Gln)
|
|
|
NM_001429.4(EP300):c.3752G>A (p.Gly1251Glu)
|
|
|
NM_001429.4(EP300):c.3800CTG[1] (p.Ala1268del)
|
|
|
NM_001429.4(EP300):c.3827T>C (p.Leu1276Ser)
|
|
|
NM_001429.4(EP300):c.3872A>C (p.Lys1291Thr)
|
|
|
NM_001429.4(EP300):c.4009C>T (p.Pro1337Ser)
|
rs2145762914
|
|
NM_001429.4(EP300):c.4019A>G (p.Lys1340Arg)
|
|
|
NM_001429.4(EP300):c.4020A>T (p.Lys1340Asn)
|
|
|
NM_001429.4(EP300):c.4044G>T (p.Glu1348Asp)
|
|
|
NM_001429.4(EP300):c.4067G>C (p.Arg1356Pro)
|
|
|
NM_001429.4(EP300):c.4070C>A (p.Thr1357Asn)
|
|
|
NM_001429.4(EP300):c.4172+5del
|
|
|
NM_001429.4(EP300):c.4186T>C (p.Ser1396Pro)
|
|
|
NM_001429.4(EP300):c.4256T>C (p.Ile1419Thr)
|
|
|
NM_001429.4(EP300):c.4331A>G (p.Asp1444Gly)
|
rs1569117388
|
|
NM_001429.4(EP300):c.4357C>A (p.Pro1453Thr)
|
|
|
NM_001429.4(EP300):c.4360G>C (p.Asp1454His)
|
|
|
NM_001429.4(EP300):c.437G>A (p.Gly146Asp)
|
|
|
NM_001429.4(EP300):c.4433G>A (p.Arg1478His)
|
|
|
NM_001429.4(EP300):c.4452+20_4452+21delinsTT
|
|
|
NM_001429.4(EP300):c.4480A>G (p.Arg1494Gly)
|
|
|
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu)
|
rs1555911573
|
|
NM_001429.4(EP300):c.4529C>G (p.Pro1510Arg)
|
rs1569118503
|
|
NM_001429.4(EP300):c.4564_4572del (p.Gln1522_Glu1524del)
|
|
|
NM_001429.4(EP300):c.4618-18_4618-17delinsTC
|
|
|
NM_001429.4(EP300):c.4653G>T (p.Lys1551Asn)
|
|
|
NM_001429.4(EP300):c.4723A>G (p.Asn1575Asp)
|
|
|
NM_001429.4(EP300):c.4735G>T (p.Asp1579Tyr)
|
|
|
NM_001429.4(EP300):c.4756G>T (p.Ala1586Ser)
|
rs1480723806
|
|
NM_001429.4(EP300):c.4829C>T (p.Pro1610Leu)
|
|
|
NM_001429.4(EP300):c.4857C>G (p.Ile1619Met)
|
|
|
NM_001429.4(EP300):c.4923C>G (p.Phe1641Leu)
|
|
|
NM_001429.4(EP300):c.4934_4939del (p.Arg1645_Ala1647delinsPro)
|
|
|
NM_001429.4(EP300):c.494T>C (p.Met165Thr)
|
|
|
NM_001429.4(EP300):c.4960A>C (p.Met1654Leu)
|
|
|
NM_001429.4(EP300):c.4960A>G (p.Met1654Val)
|
|
|
NM_001429.4(EP300):c.4994G>A (p.Arg1665His)
|
rs1601639332
|
|
NM_001429.4(EP300):c.5053G>C (p.Val1685Leu)
|
|
|
NM_001429.4(EP300):c.5062-3T>C
|
|
|
NM_001429.4(EP300):c.5153A>T (p.Asn1718Ile)
|
|
|
NM_001429.4(EP300):c.5210G>A (p.Arg1737His)
|
|
|
NM_001429.4(EP300):c.521A>G (p.Asn174Ser)
|
|
|
NM_001429.4(EP300):c.5231A>G (p.His1744Arg)
|
|
|
NM_001429.4(EP300):c.5288G>A (p.Arg1763Gln)
|
|
|
NM_001429.4(EP300):c.529A>G (p.Met177Val)
|
|
|
NM_001429.4(EP300):c.5332G>A (p.Gly1778Arg)
|
|
|
NM_001429.4(EP300):c.5411C>T (p.Pro1804Leu)
|
|
|
NM_001429.4(EP300):c.5422A>C (p.Asn1808His)
|
rs1569120861
|
|
NM_001429.4(EP300):c.5441G>T (p.Arg1814Leu)
|
|
|
NM_001429.4(EP300):c.5472G>C (p.Gln1824His)
|
|
|
NM_001429.4(EP300):c.5532A>C (p.Gln1844His)
|
|
|
NM_001429.4(EP300):c.5546C>T (p.Ser1849Phe)
|
|
|
NM_001429.4(EP300):c.5556_5564del (p.Ala1853_Pro1855del)
|
rs1555912151
|
|
NM_001429.4(EP300):c.5558C>G (p.Ala1853Gly)
|
|
|
NM_001429.4(EP300):c.5560A>C (p.Thr1854Pro)
|
|
|
NM_001429.4(EP300):c.5587C>G (p.Pro1863Ala)
|
|
|
NM_001429.4(EP300):c.5602A>T (p.Thr1868Ser)
|
|
|
NM_001429.4(EP300):c.5620CAGCCT[1] (p.1874QP[1])
|
|
|
NM_001429.4(EP300):c.5665A>G (p.Arg1889Gly)
|
|
|
NM_001429.4(EP300):c.5678C>T (p.Ala1893Val)
|
|
|
NM_001429.4(EP300):c.5713G>A (p.Val1905Met)
|
|
|
NM_001429.4(EP300):c.5719C>T (p.Pro1907Ser)
|
|
|
NM_001429.4(EP300):c.5759G>T (p.Gly1920Val)
|
|
|
NM_001429.4(EP300):c.5807C>T (p.Ala1936Val)
|
rs1301825643
|
|
NM_001429.4(EP300):c.5858A>G (p.Gln1953Arg)
|
|
|
NM_001429.4(EP300):c.5866A>G (p.Met1956Val)
|
|
|
NM_001429.4(EP300):c.5888C>A (p.Ala1963Asp)
|
|
|
NM_001429.4(EP300):c.5943G>T (p.Glu1981Asp)
|
|
|
NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser)
|
rs1210404526
|
|
NM_001429.4(EP300):c.6045G>A (p.Met2015Ile)
|
|
|
NM_001429.4(EP300):c.6045G>T (p.Met2015Ile)
|
|
|
NM_001429.4(EP300):c.6112A>G (p.Ile2038Val)
|
|
|
NM_001429.4(EP300):c.6131G>A (p.Gly2044Asp)
|
|
|
NM_001429.4(EP300):c.6142CAA[1] (p.Gln2049del)
|
|
|
NM_001429.4(EP300):c.6148G>C (p.Ala2050Pro)
|
|
|
NM_001429.4(EP300):c.6204A>C (p.Gln2068His)
|
|
|
NM_001429.4(EP300):c.6245C>G (p.Ala2082Gly)
|
|
|
NM_001429.4(EP300):c.6287A>G (p.Asn2096Ser)
|
rs1762014323
|
|
NM_001429.4(EP300):c.6303_6323del (p.Met2106_Gly2112del)
|
|
|
NM_001429.4(EP300):c.6312_6332del (p.Met2106_Gly2112del)
|
rs755425119
|
|
NM_001429.4(EP300):c.6323A>C (p.Gln2108Pro)
|
|
|
NM_001429.4(EP300):c.6374A>G (p.His2125Arg)
|
rs886057568
|
|
NM_001429.4(EP300):c.6394A>G (p.Asn2132Asp)
|
|
|
NM_001429.4(EP300):c.6402T>G (p.Asn2134Lys)
|
|
|
NM_001429.4(EP300):c.6435_6446dup (p.Gln2153_Leu2154insProGlnGlnGln)
|
|
|
NM_001429.4(EP300):c.6448C>A (p.Pro2150Thr)
|
|
|
NM_001429.4(EP300):c.6449_6460del (p.2146PQQQ[1])
|
rs758586599
|
|
NM_001429.4(EP300):c.6467C>T (p.Pro2156Leu)
|
|
|
NM_001429.4(EP300):c.6472A>G (p.Met2158Val)
|
|
|
NM_001429.4(EP300):c.6509T>C (p.Met2170Thr)
|
|
|
NM_001429.4(EP300):c.6520A>G (p.Thr2174Ala)
|
rs5758252
|
|
NM_001429.4(EP300):c.6523A>G (p.Met2175Val)
|
|
|
NM_001429.4(EP300):c.6533A>G (p.Gln2178Arg)
|
|
|
NM_001429.4(EP300):c.6599G>C (p.Gly2200Ala)
|
|
|
NM_001429.4(EP300):c.6667C>A (p.Gln2223Lys)
|
|
|
NM_001429.4(EP300):c.6680T>C (p.Met2227Thr)
|
|
|
NM_001429.4(EP300):c.6707A>G (p.Gln2236Arg)
|
|
|
NM_001429.4(EP300):c.6747G>C (p.Leu2249Phe)
|
|
|
NM_001429.4(EP300):c.6749G>T (p.Gly2250Val)
|
|
|
NM_001429.4(EP300):c.6782A>G (p.Gln2261Arg)
|
|
|
NM_001429.4(EP300):c.6805A>T (p.Met2269Leu)
|
|
|
NM_001429.4(EP300):c.6896T>A (p.Ile2299Asn)
|
|
|
NM_001429.4(EP300):c.6973_6975dup (p.Ser2326_Pro2327insSer)
|
|
|
NM_001429.4(EP300):c.6988A>G (p.Arg2330Gly)
|
|
|
NM_001429.4(EP300):c.7054G>A (p.Val2352Ile)
|
|
|
NM_001429.4(EP300):c.7064A>G (p.Gln2355Arg)
|
|
|
NM_001429.4(EP300):c.706T>A (p.Leu236Met)
|
|
|
NM_001429.4(EP300):c.7070_7096dup (p.Asn2357_Ala2365dup)
|
rs2059220245
|
|
NM_001429.4(EP300):c.7109A>G (p.Asn2370Ser)
|
|
|
NM_001429.4(EP300):c.7121C>T (p.Ser2374Phe)
|
|
|
NM_001429.4(EP300):c.7131dup (p.Ser2378Ter)
|
|
|
NM_001429.4(EP300):c.7135A>G (p.Asn2379Asp)
|
|
|
NM_001429.4(EP300):c.7138C>T (p.Pro2380Ser)
|
|
|
NM_001429.4(EP300):c.7153C>T (p.Leu2385Phe)
|
rs752065194
|
|
NM_001429.4(EP300):c.7183C>G (p.Leu2395Val)
|
|
|
NM_001429.4(EP300):c.7186A>C (p.Ser2396Arg)
|
|
|
NM_001429.4(EP300):c.7189A>C (p.Thr2397Pro)
|
|
|
NM_001429.4(EP300):c.721C>T (p.Pro241Ser)
|
|
|
NM_001429.4(EP300):c.7241_7242dup (p.Ter2415ThrextTer?)
|
rs1329239009
|
|
NM_001429.4(EP300):c.734G>A (p.Gly245Glu)
|
|
|
NM_001429.4(EP300):c.742A>C (p.Asn248His)
|
|
|
NM_001429.4(EP300):c.746A>T (p.Asn249Ile)
|
rs200732771
|
|
NM_001429.4(EP300):c.887G>T (p.Gly296Val)
|
|
|
NM_001429.4(EP300):c.898C>T (p.Pro300Ser)
|
|
|
NM_001429.4(EP300):c.901A>G (p.Asn301Asp)
|
|
|
NM_001429.4(EP300):c.941G>A (p.Gly314Asp)
|
|
|
NM_001429.4(EP300):c.95-3T>C
|
|
|
NM_001429.4(EP300):c.952C>T (p.Pro318Ser)
|
|
|
NM_001429.4(EP300):c.991G>A (p.Asp331Asn)
|
|
|
NM_001429.4(EP300):c.9G>T (p.Glu3Asp)
|
|
|