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
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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)
|
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|
NM_001429.4(EP300):c.5833G>A (p.Val1945Met)
|
rs774508702
|
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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)
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|
|
NM_001429.4(EP300):c.5866A>G (p.Met1956Val)
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|
NM_001429.4(EP300):c.5879C>T (p.Thr1960Ile)
|
|
|
NM_001429.4(EP300):c.5888C>A (p.Ala1963Asp)
|
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|
NM_001429.4(EP300):c.5938T>G (p.Leu1980Val)
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|
NM_001429.4(EP300):c.5943G>T (p.Glu1981Asp)
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NM_001429.4(EP300):c.596G>C (p.Gly199Ala)
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NM_001429.4(EP300):c.598C>G (p.Arg200Gly)
|
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|
NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser)
|
rs1210404526
|
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NM_001429.4(EP300):c.6002C>T (p.Pro2001Leu)
|
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|
NM_001429.4(EP300):c.6028A>T (p.Met2010Leu)
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NM_001429.4(EP300):c.6045G>A (p.Met2015Ile)
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|
NM_001429.4(EP300):c.6045G>T (p.Met2015Ile)
|
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|
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)
|
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|
NM_001429.4(EP300):c.6112A>G (p.Ile2038Val)
|
|
|
NM_001429.4(EP300):c.6118C>G (p.Pro2040Ala)
|
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|
NM_001429.4(EP300):c.6131G>A (p.Gly2044Asp)
|
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|
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)
|
|
|