ClinVar Miner

List of variants in gene EP300 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 581
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.2019T>C (p.Pro673=) rs2230110 0.01054
NM_001429.4(EP300):c.*745del rs532524940 0.00291
NM_001429.4(EP300):c.5061+10G>A rs78432056 0.00135
NM_001429.4(EP300):c.739A>G (p.Met247Val) rs147583157 0.00041
NM_001429.4(EP300):c.4724A>G (p.Asn1575Ser) rs144547088 0.00026
NM_001429.4(EP300):c.5172C>A (p.Thr1724=) rs142330184 0.00025
NM_001429.4(EP300):c.4026G>A (p.Arg1342=) rs146119145 0.00016
NM_001429.4(EP300):c.5711A>C (p.Gln1904Pro) rs140187237 0.00016
NM_001429.4(EP300):c.2787A>G (p.Ala929=) rs143690368 0.00012
NM_001429.4(EP300):c.448T>C (p.Ser150Pro) rs138241570 0.00012
NM_001429.4(EP300):c.454G>A (p.Gly152Ser) rs142758675 0.00011
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.2245A>G (p.Met749Val) rs370478867 0.00007
NM_001429.4(EP300):c.1540A>G (p.Met514Val) rs765266179 0.00006
NM_001429.4(EP300):c.4214G>A (p.Arg1405His) rs138855106 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.7114A>G (p.Met2372Val) rs768061933 0.00006
NM_001429.4(EP300):c.4624A>G (p.Lys1542Glu) rs374162524 0.00005
NM_001429.4(EP300):c.6922C>T (p.Arg2308Cys) rs145312648 0.00005
NM_001429.4(EP300):c.1760+20C>T rs368767822 0.00004
NM_001429.4(EP300):c.2201A>G (p.Gln734Arg) rs779657418 0.00004
NM_001429.4(EP300):c.2419A>G (p.Ile807Val) rs201054979 0.00004
NM_001429.4(EP300):c.4347T>C (p.His1449=) rs137986257 0.00004
NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser) rs749979249 0.00004
NM_001429.4(EP300):c.103T>G (p.Ser35Ala) rs546292445 0.00003
NM_001429.4(EP300):c.1168+5G>A rs940896515 0.00003
NM_001429.4(EP300):c.2241G>A (p.Pro747=) rs759604286 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.7082A>G (p.Gln2361Arg) rs1263635747 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.2252A>G (p.Tyr751Cys) rs755815528 0.00002
NM_001429.4(EP300):c.2473C>T (p.Pro825Ser) rs751515727 0.00002
NM_001429.4(EP300):c.4235C>T (p.Ala1412Val) rs887226313 0.00002
NM_001429.4(EP300):c.574A>T (p.Met192Leu) rs771650739 0.00002
NM_001429.4(EP300):c.5914A>G (p.Met1972Val) rs373725137 0.00002
NM_001429.4(EP300):c.6437C>A (p.Pro2146His) rs745528077 0.00002
NM_001429.4(EP300):c.1081G>A (p.Val361Met) rs1341704749 0.00001
NM_001429.4(EP300):c.1150T>G (p.Ser384Ala) rs377368037 0.00001
NM_001429.4(EP300):c.1303G>A (p.Val435Ile) rs779573838 0.00001
NM_001429.4(EP300):c.1453C>A (p.Gln485Lys) rs772407988 0.00001
NM_001429.4(EP300):c.1508T>C (p.Met503Thr) rs1185038602 0.00001
NM_001429.4(EP300):c.169A>G (p.Asn57Asp) rs1186074560 0.00001
NM_001429.4(EP300):c.1710G>A (p.Gln570=) rs886043092 0.00001
NM_001429.4(EP300):c.2005A>G (p.Met669Val) rs749541256 0.00001
NM_001429.4(EP300):c.2078T>C (p.Met693Thr) rs199636064 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.2503G>A (p.Val835Ile) rs1569107347 0.00001
NM_001429.4(EP300):c.271C>T (p.Pro91Ser) rs138538553 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.3330G>T (p.Gln1110His) rs374163115 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.363G>C (p.Met121Ile) rs757476470 0.00001
NM_001429.4(EP300):c.3842G>A (p.Arg1281Gln) rs764929476 0.00001
NM_001429.4(EP300):c.3884C>G (p.Ser1295Cys) rs772897576 0.00001
NM_001429.4(EP300):c.4339A>G (p.Ile1447Val) rs1448116681 0.00001
NM_001429.4(EP300):c.4532A>G (p.Asn1511Ser) rs763860567 0.00001
NM_001429.4(EP300):c.471A>G (p.Pro157=) rs770598337 0.00001
NM_001429.4(EP300):c.495G>T (p.Met165Ile) rs1343346566 0.00001
NM_001429.4(EP300):c.5092A>G (p.Thr1698Ala) rs549834848 0.00001
NM_001429.4(EP300):c.536C>G (p.Ala179Gly) rs1064797288 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.6179C>G (p.Ser2060Cys) rs2059211839 0.00001
NM_001429.4(EP300):c.6243G>A (p.Leu2081=) rs2059212331 0.00001
NM_001429.4(EP300):c.6473T>C (p.Met2158Thr) rs778354178 0.00001
NM_001429.4(EP300):c.6518A>C (p.Asn2173Thr) rs1555912302 0.00001
NM_001429.4(EP300):c.6526C>T (p.Pro2176Ser) rs779543207 0.00001
NM_001429.4(EP300):c.6967C>T (p.Pro2323Ser) rs201369756 0.00001
NM_001429.4(EP300):c.7105C>A (p.Gln2369Lys) rs1163407374 0.00001
NM_001429.4(EP300):c.892G>A (p.Gly298Arg) rs755143118 0.00001
GRCh37/hg19 22q13.2(chr22:41408541-41580159)x3
NM_001429.4(EP300):c.*40_*44del rs751376755
NM_001429.4(EP300):c.*591_*592dup rs60283061
NM_001429.4(EP300):c.*592del rs60283061
NM_001429.4(EP300):c.*592dup rs60283061
NM_001429.4(EP300):c.*785_*786del rs886057577
NM_001429.4(EP300):c.*7C>T
NM_001429.4(EP300):c.*921dup rs1161532977
NM_001429.4(EP300):c.*922_*930delinsC rs1555912614
NM_001429.4(EP300):c.*922_*930delinsCCC rs1555912614
NM_001429.4(EP300):c.*922_*932delinsC rs886057580
NM_001429.4(EP300):c.*922_*932delinsCCC rs886057580
NM_001429.4(EP300):c.*922_*938delinsC rs886057581
NM_001429.4(EP300):c.*922_*942delinsC rs1555912616
NM_001429.4(EP300):c.*922_*942delinsCC rs1555912616
NM_001429.4(EP300):c.*926AC[18] rs59721178
NM_001429.4(EP300):c.*926AC[20] rs59721178
NM_001429.4(EP300):c.*926AC[22] rs59721178
NM_001429.4(EP300):c.*926AC[23] rs59721178
NM_001429.4(EP300):c.1040A>G (p.His347Arg) rs2145710261
NM_001429.4(EP300):c.104C>G (p.Ser35Cys) rs2145696235
NM_001429.4(EP300):c.1053C>G (p.Cys351Trp) rs1388226313
NM_001429.4(EP300):c.1057C>T (p.Arg353Cys) rs2145710304
NM_001429.4(EP300):c.1143C>G (p.His381Gln) rs2145710465
NM_001429.4(EP300):c.1157A>G (p.Lys386Arg)
NM_001429.4(EP300):c.1226A>G (p.His409Arg)
NM_001429.4(EP300):c.124G>A (p.Asp42Asn)
NM_001429.4(EP300):c.1255A>G (p.Asn419Asp) rs2058908118
NM_001429.4(EP300):c.1282C>T (p.Pro428Ser)
NM_001429.4(EP300):c.1287T>G (p.Ile429Met)
NM_001429.4(EP300):c.12T>A (p.Asn4Lys)
NM_001429.4(EP300):c.1334T>A (p.Val445Glu)
NM_001429.4(EP300):c.1352C>A (p.Pro451His)
NM_001429.4(EP300):c.1357C>G (p.Leu453Val)
NM_001429.4(EP300):c.1370G>A (p.Ser457Asn) rs2145715608
NM_001429.4(EP300):c.1372C>G (p.Gln458Glu)
NM_001429.4(EP300):c.137A>T (p.Glu46Val) rs2145696320
NM_001429.4(EP300):c.1403A>T (p.Tyr468Phe) rs587778262
NM_001429.4(EP300):c.1420C>T (p.Pro474Ser)
NM_001429.4(EP300):c.1442C>T (p.Pro481Leu) rs533244094
NM_001429.4(EP300):c.1443_1444delinsAC (p.Thr482Pro)
NM_001429.4(EP300):c.1448A>T (p.Gln483Leu) rs2058919614
NM_001429.4(EP300):c.1449A>C (p.Gln483His)
NM_001429.4(EP300):c.1456G>C (p.Val486Leu)
NM_001429.4(EP300):c.1465A>G (p.Lys489Glu)
NM_001429.4(EP300):c.1467G>T (p.Lys489Asn)
NM_001429.4(EP300):c.1516A>G (p.Met506Val) rs886057556
NM_001429.4(EP300):c.151A>G (p.Thr51Ala)
NM_001429.4(EP300):c.1528+3_1528+10del
NM_001429.4(EP300):c.1529-4T>G
NM_001429.4(EP300):c.1529-8T>C rs587783621
NM_001429.4(EP300):c.152C>T (p.Thr51Ile)
NM_001429.4(EP300):c.1532C>T (p.Ala511Val)
NM_001429.4(EP300):c.1553G>A (p.Gly518Glu)
NM_001429.4(EP300):c.1553G>C (p.Gly518Ala)
NM_001429.4(EP300):c.1573C>T (p.Pro525Ser) rs886042427
NM_001429.4(EP300):c.1595T>C (p.Met532Thr) rs774952188
NM_001429.4(EP300):c.1622+4A>T
NM_001429.4(EP300):c.1654T>C (p.Ser552Pro) rs587778263
NM_001429.4(EP300):c.1663C>T (p.Pro555Ser)
NM_001429.4(EP300):c.1670C>T (p.Pro557Leu)
NM_001429.4(EP300):c.1672A>T (p.Thr558Ser) rs1057519397
NM_001429.4(EP300):c.1673C>G (p.Thr558Arg)
NM_001429.4(EP300):c.1673C>T (p.Thr558Ile)
NM_001429.4(EP300):c.1681C>G (p.Gln561Glu)
NM_001429.4(EP300):c.1709A>G (p.Gln570Arg)
NM_001429.4(EP300):c.170A>G (p.Asn57Ser)
NM_001429.4(EP300):c.175G>C (p.Gly59Arg) rs1569090280
NM_001429.4(EP300):c.1760+6_1760+9del rs2145722830
NM_001429.4(EP300):c.1761C>T (p.Leu587=)
NM_001429.4(EP300):c.1784C>T (p.Pro595Leu) rs886057557
NM_001429.4(EP300):c.1810C>T (p.Arg604Trp)
NM_001429.4(EP300):c.1861G>A (p.Glu621Lys) rs778829658
NM_001429.4(EP300):c.1879-2del
NM_001429.4(EP300):c.1880C>T (p.Ala627Val)
NM_001429.4(EP300):c.189G>C (p.Gln63His)
NM_001429.4(EP300):c.191T>C (p.Leu64Pro)
NM_001429.4(EP300):c.1927G>A (p.Glu643Lys)
NM_001429.4(EP300):c.1931T>G (p.Leu644Arg)
NM_001429.4(EP300):c.194A>G (p.Gln65Arg)
NM_001429.4(EP300):c.1972C>A (p.Leu658Ile)
NM_001429.4(EP300):c.1985C>A (p.Ala662Glu) rs1339311567
NM_001429.4(EP300):c.1989C>T (p.Gly663=) rs1291428868
NM_001429.4(EP300):c.1996C>T (p.Pro666Ser)
NM_001429.4(EP300):c.2020A>G (p.Asn674Asp)
NM_001429.4(EP300):c.2023A>G (p.Met675Val)
NM_001429.4(EP300):c.2027G>C (p.Gly676Ala) rs1555908795
NM_001429.4(EP300):c.2041G>A (p.Gly681Arg)
NM_001429.4(EP300):c.2052T>G (p.Ser684=)
NM_001429.4(EP300):c.2053+4A>T rs1057518889
NM_001429.4(EP300):c.2053+5G>C
NM_001429.4(EP300):c.2066C>G (p.Pro689Arg)
NM_001429.4(EP300):c.2077A>G (p.Met693Val)
NM_001429.4(EP300):c.2083C>T (p.Arg695Cys)
NM_001429.4(EP300):c.2093T>C (p.Val698Ala)
NM_001429.4(EP300):c.2102A>T (p.Gln701Leu)
NM_001429.4(EP300):c.2104A>G (p.Met702Val)
NM_001429.4(EP300):c.2113C>G (p.Arg705Gly)
NM_001429.4(EP300):c.2122C>A (p.Pro708Thr)
NM_001429.4(EP300):c.2167C>A (p.Pro723Thr)
NM_001429.4(EP300):c.2183G>A (p.Arg728Gln)
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.2224C>G (p.Pro742Ala)
NM_001429.4(EP300):c.2224C>T (p.Pro742Ser)
NM_001429.4(EP300):c.2241+5G>A
NM_001429.4(EP300):c.2242-6_2242-4del rs747710183
NM_001429.4(EP300):c.2249G>A (p.Gly750Asp) rs1433543827
NM_001429.4(EP300):c.2249G>C (p.Gly750Ala)
NM_001429.4(EP300):c.2260C>T (p.Arg754Cys) rs2145735782
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.2325G>T (p.Met775Ile) rs2145736030
NM_001429.4(EP300):c.2335A>G (p.Asn779Asp)
NM_001429.4(EP300):c.2350C>G (p.Pro784Ala)
NM_001429.4(EP300):c.2357G>T (p.Ser786Ile)
NM_001429.4(EP300):c.238C>G (p.Gln80Glu)
NM_001429.4(EP300):c.2405C>G (p.Pro802Arg)
NM_001429.4(EP300):c.2462A>T (p.Gln821Leu)
NM_001429.4(EP300):c.2498C>T (p.Ser833Leu) rs1803789601
NM_001429.4(EP300):c.2507C>T (p.Pro836Leu)
NM_001429.4(EP300):c.2512C>G (p.Arg838Gly)
NM_001429.4(EP300):c.2539C>G (p.Pro847Ala)
NM_001429.4(EP300):c.2540C>G (p.Pro847Arg)
NM_001429.4(EP300):c.2548G>T (p.Gly850Trp)
NM_001429.4(EP300):c.2563C>T (p.Pro855Ser)
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.2596C>A (p.Pro866Thr)
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.2657C>T (p.Pro886Leu)
NM_001429.4(EP300):c.2689G>C (p.Val897Leu) rs1375233087
NM_001429.4(EP300):c.2704C>T (p.Pro902Ser)
NM_001429.4(EP300):c.2713C>A (p.Pro905Thr)
NM_001429.4(EP300):c.2720C>T (p.Ala907Val)
NM_001429.4(EP300):c.272C>G (p.Pro91Arg)
NM_001429.4(EP300):c.2743C>T (p.Arg915Cys)
NM_001429.4(EP300):c.2753A>G (p.Gln918Arg)
NM_001429.4(EP300):c.2789C>T (p.Pro930Leu)
NM_001429.4(EP300):c.2812A>G (p.Thr938Ala) rs2145737964
NM_001429.4(EP300):c.284T>C (p.Met95Thr)
NM_001429.4(EP300):c.28C>T (p.Pro10Ser) rs2145665490
NM_001429.4(EP300):c.301G>A (p.Gly101Ser) rs762557708
NM_001429.4(EP300):c.311T>C (p.Met104Thr)
NM_001429.4(EP300):c.3143-1G>T rs1230152737
NM_001429.4(EP300):c.3143-3A>T rs749597275
NM_001429.4(EP300):c.3143-4del rs757931697
NM_001429.4(EP300):c.3152C>T (p.Pro1051Leu) rs2145744549
NM_001429.4(EP300):c.3178C>T (p.Pro1060Ser) rs2059069019
NM_001429.4(EP300):c.3191C>T (p.Ala1064Val)
NM_001429.4(EP300):c.31C>T (p.Pro11Ser)
NM_001429.4(EP300):c.320A>G (p.Gln107Arg)
NM_001429.4(EP300):c.3261+3A>G
NM_001429.4(EP300):c.3302C>T (p.Thr1101Ile) rs2145747224
NM_001429.4(EP300):c.3310A>G (p.Arg1104Gly)
NM_001429.4(EP300):c.332G>A (p.Ser111Asn) rs2145696782
NM_001429.4(EP300):c.3355G>A (p.Asp1119Asn)
NM_001429.4(EP300):c.3355GAT[1] (p.Asp1120del)
NM_001429.4(EP300):c.3362T>C (p.Ile1121Thr)
NM_001429.4(EP300):c.3397C>T (p.Arg1133Trp)
NM_001429.4(EP300):c.3398G>A (p.Arg1133Gln)
NM_001429.4(EP300):c.3428C>G (p.Ser1143Cys) rs2059082907
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.3565G>A (p.Ala1189Thr)
NM_001429.4(EP300):c.3568A>G (p.Thr1190Ala)
NM_001429.4(EP300):c.3569C>T (p.Thr1190Ile)
NM_001429.4(EP300):c.3590+4A>T
NM_001429.4(EP300):c.3592T>C (p.Tyr1198His) rs1305375514
NM_001429.4(EP300):c.3624C>G (p.Ile1208Met) rs143660871
NM_001429.4(EP300):c.3625C>G (p.Gln1209Glu)
NM_001429.4(EP300):c.362T>C (p.Met121Thr)
NM_001429.4(EP300):c.3659C>G (p.Ser1220Cys)
NM_001429.4(EP300):c.365T>A (p.Val122Asp)
NM_001429.4(EP300):c.3665C>A (p.Pro1222His) rs7285319
NM_001429.4(EP300):c.3686A>G (p.Glu1229Gly)
NM_001429.4(EP300):c.3704A>G (p.Lys1235Arg)
NM_001429.4(EP300):c.3728T>A (p.Leu1243Gln)
NM_001429.4(EP300):c.3746A>G (p.Glu1249Gly)
NM_001429.4(EP300):c.3747G>C (p.Glu1249Asp)
NM_001429.4(EP300):c.3750C>G (p.Cys1250Trp) rs747187417
NM_001429.4(EP300):c.3752G>A (p.Gly1251Glu)
NM_001429.4(EP300):c.3772T>C (p.Cys1258Arg) rs2145756430
NM_001429.4(EP300):c.3800CTG[1] (p.Ala1268del)
NM_001429.4(EP300):c.3807-4T>G rs1337278789
NM_001429.4(EP300):c.3807-7C>T
NM_001429.4(EP300):c.3811G>C (p.Val1271Leu)
NM_001429.4(EP300):c.3815G>C (p.Cys1272Ser)
NM_001429.4(EP300):c.3818A>G (p.Asp1273Gly) rs2145759316
NM_001429.4(EP300):c.3827T>C (p.Leu1276Ser)
NM_001429.4(EP300):c.3838G>T (p.Ala1280Ser) rs2059136013
NM_001429.4(EP300):c.383A>T (p.Gln128Leu)
NM_001429.4(EP300):c.3866C>G (p.Ser1289Cys)
NM_001429.4(EP300):c.3866C>T (p.Ser1289Phe) rs1555910822
NM_001429.4(EP300):c.3872A>C (p.Lys1291Thr)
NM_001429.4(EP300):c.3893T>G (p.Leu1298Arg) rs2145762737
NM_001429.4(EP300):c.3899C>T (p.Thr1300Ile)
NM_001429.4(EP300):c.3901T>G (p.Phe1301Val) rs766262045
NM_001429.4(EP300):c.3913C>T (p.Arg1305Cys) rs1555911073
NM_001429.4(EP300):c.3946C>G (p.Pro1316Ala)
NM_001429.4(EP300):c.3947C>G (p.Pro1316Arg)
NM_001429.4(EP300):c.394A>T (p.Thr132Ser)
NM_001429.4(EP300):c.3971G>A (p.Arg1324Lys) rs1487546042
NM_001429.4(EP300):c.3976G>A (p.Val1326Ile) rs1268191227
NM_001429.4(EP300):c.3983C>G (p.Ala1328Gly)
NM_001429.4(EP300):c.4009C>G (p.Pro1337Ala)
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.4021G>A (p.Ala1341Thr)
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.4096A>G (p.Ile1366Val)
NM_001429.4(EP300):c.4111C>G (p.Leu1371Val)
NM_001429.4(EP300):c.4118T>G (p.Phe1373Cys)
NM_001429.4(EP300):c.4152C>G (p.Asp1384Glu)
NM_001429.4(EP300):c.4172+5_4172+7delinsAT rs2145763996
NM_001429.4(EP300):c.4172+5del
NM_001429.4(EP300):c.4177G>A (p.Val1393Ile)
NM_001429.4(EP300):c.4185A>G (p.Ile1395Met) rs937597399
NM_001429.4(EP300):c.4186T>C (p.Ser1396Pro)
NM_001429.4(EP300):c.4256T>C (p.Ile1419Thr)
NM_001429.4(EP300):c.4306T>C (p.Trp1436Arg)
NM_001429.4(EP300):c.4331A>G (p.Asp1444Gly) rs1569117388
NM_001429.4(EP300):c.433C>G (p.Gln145Glu) rs2145697001
NM_001429.4(EP300):c.4340T>G (p.Ile1447Ser) rs2145766562
NM_001429.4(EP300):c.4357C>A (p.Pro1453Thr)
NM_001429.4(EP300):c.4360G>C (p.Asp1454His)
NM_001429.4(EP300):c.4372C>T (p.Pro1458Ser) rs1487932572
NM_001429.4(EP300):c.4378C>T (p.Pro1460Ser)
NM_001429.4(EP300):c.437G>A (p.Gly146Asp)
NM_001429.4(EP300):c.4408A>G (p.Met1470Val)
NM_001429.4(EP300):c.4432C>T (p.Arg1478Cys) rs1445337631
NM_001429.4(EP300):c.4433G>A (p.Arg1478His)
NM_001429.4(EP300):c.4438G>A (p.Val1480Ile)
NM_001429.4(EP300):c.4439T>C (p.Val1480Ala)
NM_001429.4(EP300):c.4452+20_4452+21delinsTT
NM_001429.4(EP300):c.4453G>T (p.Asp1485Tyr) rs2145769934
NM_001429.4(EP300):c.4480A>G (p.Arg1494Gly)
NM_001429.4(EP300):c.4487C>G (p.Thr1496Arg) rs2145770052
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
NM_001429.4(EP300):c.4515G>A (p.Glu1505=)
NM_001429.4(EP300):c.4529C>G (p.Pro1510Arg) rs1569118503
NM_001429.4(EP300):c.4532A>T (p.Asn1511Ile)
NM_001429.4(EP300):c.4564_4572del (p.Gln1522_Glu1524del)
NM_001429.4(EP300):c.4580G>T (p.Arg1527Ile)
NM_001429.4(EP300):c.458T>C (p.Met153Thr)
NM_001429.4(EP300):c.4601G>A (p.Ser1534Asn)
NM_001429.4(EP300):c.4618-18_4618-17delinsTC
NM_001429.4(EP300):c.4650GAA[1] (p.Lys1551del)
NM_001429.4(EP300):c.4653G>T (p.Lys1551Asn)
NM_001429.4(EP300):c.4656T>G (p.Asn1552Lys)
NM_001429.4(EP300):c.4691G>A (p.Ser1564Asn)
NM_001429.4(EP300):c.4711C>T (p.Pro1571Ser)
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.4844C>G (p.Pro1615Arg)
NM_001429.4(EP300):c.4857C>G (p.Ile1619Met)
NM_001429.4(EP300):c.487A>G (p.Met163Val)
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.4979C>T (p.Thr1660Met) rs2145513499
NM_001429.4(EP300):c.4993C>T (p.Arg1665Cys)
NM_001429.4(EP300):c.4994G>A (p.Arg1665His) rs1601639332
NM_001429.4(EP300):c.4999G>C (p.Val1667Leu) rs2059201116
NM_001429.4(EP300):c.5015A>G (p.Glu1672Gly)
NM_001429.4(EP300):c.5053G>C (p.Val1685Leu)
NM_001429.4(EP300):c.5061+4G>A rs2059201364
NM_001429.4(EP300):c.5062-3T>C
NM_001429.4(EP300):c.5087A>C (p.Tyr1696Ser)
NM_001429.4(EP300):c.5092A>T (p.Thr1698Ser) rs549834848
NM_001429.4(EP300):c.5095A>G (p.Lys1699Glu) rs2059203421
NM_001429.4(EP300):c.5110A>G (p.Lys1704Glu) rs2145514891
NM_001429.4(EP300):c.5153A>T (p.Asn1718Ile)
NM_001429.4(EP300):c.5170_5194del (p.Thr1724fs) rs1555912112
NM_001429.4(EP300):c.5192G>A (p.Arg1731His)
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.5245C>T (p.Arg1749Trp) rs2145515250
NM_001429.4(EP300):c.5249A>G (p.Asn1750Ser) rs2145515265
NM_001429.4(EP300):c.5288G>A (p.Arg1763Gln)
NM_001429.4(EP300):c.529A>G (p.Met177Val)
NM_001429.4(EP300):c.5307G>C (p.Lys1769Asn)
NM_001429.4(EP300):c.5320A>G (p.Lys1774Glu)
NM_001429.4(EP300):c.5331C>T (p.Gly1777=)
NM_001429.4(EP300):c.5332G>A (p.Gly1778Arg)
NM_001429.4(EP300):c.5366G>A (p.Cys1789Tyr)
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.5477A>C (p.Gln1826Pro) rs2145516037
NM_001429.4(EP300):c.5486G>A (p.Arg1829His)
NM_001429.4(EP300):c.5488A>G (p.Arg1830Gly)
NM_001429.4(EP300):c.5509C>T (p.Arg1837Trp) rs1439243688
NM_001429.4(EP300):c.5510G>A (p.Arg1837Gln) rs755471385
NM_001429.4(EP300):c.5519T>G (p.Val1840Gly)
NM_001429.4(EP300):c.5520_5522del (p.Val1841del)
NM_001429.4(EP300):c.5532A>C (p.Gln1844His)
NM_001429.4(EP300):c.5546C>T (p.Ser1849Phe)
NM_001429.4(EP300):c.5549C>G (p.Pro1850Arg) rs2145516343
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.5564C>T (p.Pro1855Leu)
NM_001429.4(EP300):c.5572C>G (p.Pro1858Ala) rs398123610
NM_001429.4(EP300):c.5584C>G (p.Gln1862Glu) rs2145516559
NM_001429.4(EP300):c.5587C>G (p.Pro1863Ala)
NM_001429.4(EP300):c.5591C>G (p.Thr1864Ser)
NM_001429.4(EP300):c.5597C>A (p.Pro1866Gln)
NM_001429.4(EP300):c.5597C>T (p.Pro1866Leu)
NM_001429.4(EP300):c.5602A>T (p.Thr1868Ser)
NM_001429.4(EP300):c.5607_5624del (p.Ser1873_Thr1878del) rs1555912169
NM_001429.4(EP300):c.5618C>T (p.Ser1873Phe)
NM_001429.4(EP300):c.5620CAGCCT[1] (p.1874QP[1])
NM_001429.4(EP300):c.5633C>T (p.Thr1878Ile)
NM_001429.4(EP300):c.5636C>T (p.Pro1879Leu)
NM_001429.4(EP300):c.5654C>T (p.Pro1885Leu)
NM_001429.4(EP300):c.5665A>G (p.Arg1889Gly)
NM_001429.4(EP300):c.5671C>G (p.Gln1891Glu) rs2145517044
NM_001429.4(EP300):c.5678C>T (p.Ala1893Val)
NM_001429.4(EP300):c.569A>G (p.Gln190Arg) rs199653514
NM_001429.4(EP300):c.5702CAG[3] (p.Ala1902_Gly1903insAla)
NM_001429.4(EP300):c.5704G>A (p.Ala1902Thr)
NM_001429.4(EP300):c.5713G>A (p.Val1905Met)
NM_001429.4(EP300):c.5719C>T (p.Pro1907Ser)
NM_001429.4(EP300):c.5726C>A (p.Thr1909Asn)
NM_001429.4(EP300):c.574A>G (p.Met192Val)
NM_001429.4(EP300):c.5759G>T (p.Gly1920Val)
NM_001429.4(EP300):c.5807C>T (p.Ala1936Val) rs1301825643
NM_001429.4(EP300):c.580G>A (p.Gly194Ser)
NM_001429.4(EP300):c.5813C>T (p.Thr1938Met)
NM_001429.4(EP300):c.5833G>A (p.Val1945Met) rs774508702
NM_001429.4(EP300):c.5839A>G (p.Ile1947Val) rs977251718
NM_001429.4(EP300):c.5840_5848del (p.Ile1947_Gln1949del) rs1171171784
NM_001429.4(EP300):c.5858A>G (p.Gln1953Arg)
NM_001429.4(EP300):c.5866A>G (p.Met1956Val)
NM_001429.4(EP300):c.5879C>T (p.Thr1960Ile)
NM_001429.4(EP300):c.5888C>A (p.Ala1963Asp)
NM_001429.4(EP300):c.5938T>G (p.Leu1980Val)
NM_001429.4(EP300):c.5943G>T (p.Glu1981Asp)
NM_001429.4(EP300):c.596G>C (p.Gly199Ala)
NM_001429.4(EP300):c.598C>G (p.Arg200Gly)
NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser) rs1210404526
NM_001429.4(EP300):c.6002C>T (p.Pro2001Leu)
NM_001429.4(EP300):c.6028A>T (p.Met2010Leu)
NM_001429.4(EP300):c.6045G>A (p.Met2015Ile)
NM_001429.4(EP300):c.6045G>T (p.Met2015Ile)
NM_001429.4(EP300):c.605G>T (p.Arg202Leu)
NM_001429.4(EP300):c.6083C>T (p.Ala2028Val)
NM_001429.4(EP300):c.6105G>C (p.Gln2035His)
NM_001429.4(EP300):c.6112A>G (p.Ile2038Val)
NM_001429.4(EP300):c.6118C>G (p.Pro2040Ala)
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.6177_6185dup (p.Arg2059_Pro2061dup) rs2145519648
NM_001429.4(EP300):c.6185G>A (p.Ser2062Asn)
NM_001429.4(EP300):c.6204A>C (p.Gln2068His)
NM_001429.4(EP300):c.6245C>G (p.Ala2082Gly)
NM_001429.4(EP300):c.6261G>C (p.Gln2087His) rs767446483
NM_001429.4(EP300):c.6274T>G (p.Tyr2092Asp) rs2059212476
NM_001429.4(EP300):c.6287A>G (p.Asn2096Ser) rs1762014323
NM_001429.4(EP300):c.6294A>G (p.Gln2098=)
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.6350C>T (p.Thr2117Ile) rs2059213237
NM_001429.4(EP300):c.635T>C (p.Met212Thr)
NM_001429.4(EP300):c.6374A>G (p.His2125Arg) rs886057568
NM_001429.4(EP300):c.6389T>C (p.Met2130Thr) rs1299853803
NM_001429.4(EP300):c.6394A>G (p.Asn2132Asp)
NM_001429.4(EP300):c.6397A>T (p.Met2133Leu)
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.6455_6466dup (p.Gln2155_Pro2156insGlnGlnLeuGln)
NM_001429.4(EP300):c.6460C>T (p.Leu2154Phe)
NM_001429.4(EP300):c.6467C>T (p.Pro2156Leu)
NM_001429.4(EP300):c.6472A>G (p.Met2158Val)
NM_001429.4(EP300):c.6508A>G (p.Met2170Val)
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.6526C>A (p.Pro2176Thr)
NM_001429.4(EP300):c.6533A>G (p.Gln2178Arg)
NM_001429.4(EP300):c.6536T>C (p.Phe2179Ser)
NM_001429.4(EP300):c.6567G>A (p.Met2189Ile)
NM_001429.4(EP300):c.6577C>G (p.Gln2193Glu)
NM_001429.4(EP300):c.6599G>C (p.Gly2200Ala)
NM_001429.4(EP300):c.6607C>G (p.Pro2203Ala) rs1358846937
NM_001429.4(EP300):c.6613A>G (p.Met2205Val)
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.6644A>G (p.Gln2215Arg)
NM_001429.4(EP300):c.6646G>A (p.Gly2216Arg)
NM_001429.4(EP300):c.6662C>T (p.Pro2221Leu)
NM_001429.4(EP300):c.6667C>A (p.Gln2223Lys)
NM_001429.4(EP300):c.667C>G (p.Leu223Val) rs746720991
NM_001429.4(EP300):c.6680T>C (p.Met2227Thr)
NM_001429.4(EP300):c.6690_6698del (p.His2230_Gln2232del)
NM_001429.4(EP300):c.6697C>G (p.Gln2233Glu) rs2145521936
NM_001429.4(EP300):c.6703C>A (p.Gln2235Lys)
NM_001429.4(EP300):c.6707A>G (p.Gln2236Arg)
NM_001429.4(EP300):c.6709G>A (p.Gly2237Arg)
NM_001429.4(EP300):c.6712A>G (p.Asn2238Asp)
NM_001429.4(EP300):c.6713A>G (p.Asn2238Ser) rs767335677
NM_001429.4(EP300):c.6718G>A (p.Gly2240Arg) rs2145522007
NM_001429.4(EP300):c.6722A>G (p.Gln2241Arg)
NM_001429.4(EP300):c.6747G>C (p.Leu2249Phe)
NM_001429.4(EP300):c.6749G>T (p.Gly2250Val)
NM_001429.4(EP300):c.6764C>T (p.Ala2255Val) rs755172061
NM_001429.4(EP300):c.6773A>T (p.Gln2258Leu) rs2145522210
NM_001429.4(EP300):c.6775G>A (p.Ala2259Thr)
NM_001429.4(EP300):c.6782A>G (p.Gln2261Arg)
NM_001429.4(EP300):c.6786G>C (p.Gln2262His) rs2059217082
NM_001429.4(EP300):c.6788G>A (p.Arg2263Gln)
NM_001429.4(EP300):c.6805A>T (p.Met2269Leu)
NM_001429.4(EP300):c.6815C>T (p.Pro2272Leu) rs1386526100
NM_001429.4(EP300):c.6820C>G (p.Gln2274Glu)
NM_001429.4(EP300):c.6833T>C (p.Met2278Thr)
NM_001429.4(EP300):c.6859A>G (p.Asn2287Asp) rs2145522603
NM_001429.4(EP300):c.6864G>C (p.Gln2288His)
NM_001429.4(EP300):c.6896T>A (p.Ile2299Asn)
NM_001429.4(EP300):c.6920T>C (p.Val2307Ala)
NM_001429.4(EP300):c.6928C>T (p.Pro2310Ser)
NM_001429.4(EP300):c.6954_6965del (p.Gln2319_Pro2322del) rs2145523070
NM_001429.4(EP300):c.695G>C (p.Gly232Ala) rs1261612920
NM_001429.4(EP300):c.6970C>G (p.His2324Asp)
NM_001429.4(EP300):c.6973_6975dup (p.Ser2326_Pro2327insSer)
NM_001429.4(EP300):c.6988A>G (p.Arg2330Gly)
NM_001429.4(EP300):c.6998C>G (p.Pro2333Arg)
NM_001429.4(EP300):c.7003C>G (p.Pro2335Ala)
NM_001429.4(EP300):c.7008_7010del (p.Pro2337del) rs1413664360
NM_001429.4(EP300):c.7014_7028del (p.His2338_Pro2342del) rs1601642386
NM_001429.4(EP300):c.7015C>T (p.His2339Tyr)
NM_001429.4(EP300):c.7041_7046del (p.His2348_Pro2349del) rs2145523559
NM_001429.4(EP300):c.7049G>C (p.Gly2350Ala)
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.7072C>G (p.Pro2358Ala) rs1569122827
NM_001429.4(EP300):c.7083_7085dup (p.Gly2362_His2363insGly)
NM_001429.4(EP300):c.7100C>T (p.Pro2367Leu)
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.7136A>G (p.Asn2379Ser) rs886057571
NM_001429.4(EP300):c.7138C>T (p.Pro2380Ser)
NM_001429.4(EP300):c.713G>A (p.Gly238Asp)
NM_001429.4(EP300):c.7142G>A (p.Gly2381Asp)
NM_001429.4(EP300):c.7153C>T (p.Leu2385Phe) rs752065194
NM_001429.4(EP300):c.7157A>G (p.His2386Arg)
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.7220C>T (p.Ser2407Leu) rs1424813619
NM_001429.4(EP300):c.7221A>G (p.Ser2407=) rs964396023
NM_001429.4(EP300):c.7225A>C (p.Ser2409Arg) rs748325077
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.749C>G (p.Pro250Arg) rs2058879222
NM_001429.4(EP300):c.767C>T (p.Pro256Leu)
NM_001429.4(EP300):c.795T>G (p.Ile265Met)
NM_001429.4(EP300):c.7G>A (p.Glu3Lys) rs181951278
NM_001429.4(EP300):c.808C>G (p.Leu270Val)
NM_001429.4(EP300):c.853T>C (p.Ser285Pro)
NM_001429.4(EP300):c.871A>G (p.Lys291Glu) rs1555907094
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.985A>G (p.Thr329Ala) rs2145710174
NM_001429.4(EP300):c.991G>A (p.Asp331Asn)
NM_001429.4(EP300):c.9G>T (p.Glu3Asp)

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