NM_001429.3(EP300):c.3857A>G
|
rs1555910821
|
|
NM_001429.4(EP300):c.104_107del (p.Ser35fs)
|
rs886037664
|
|
NM_001429.4(EP300):c.1092C>A (p.Cys364Ter)
|
rs786205557
|
|
NM_001429.4(EP300):c.1164C>A (p.Cys388Ter)
|
rs1555907286
|
|
NM_001429.4(EP300):c.1282+1G>A
|
|
|
NM_001429.4(EP300):c.1709_1710del (p.Gln570fs)
|
|
|
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter)
|
rs137853038
|
|
NM_001429.4(EP300):c.1878+1G>A
|
rs2058974109
|
|
NM_001429.4(EP300):c.2064dup (p.Pro689fs)
|
rs1601617062
|
|
NM_001429.4(EP300):c.2132-1G>A
|
rs2145734002
|
|
NM_001429.4(EP300):c.2161dup (p.Ala721fs)
|
rs1057519012
|
|
NM_001429.4(EP300):c.2461_2470del (p.Gln821fs)
|
|
|
NM_001429.4(EP300):c.2660C>T (p.Thr887Ile)
|
rs953108559
|
|
NM_001429.4(EP300):c.3205G>A (p.Asp1069Asn)
|
rs2145744796
|
|
NM_001429.4(EP300):c.3262-2A>G
|
rs1555910114
|
|
NM_001429.4(EP300):c.3451C>T (p.Gln1151Ter)
|
|
|
NM_001429.4(EP300):c.3502-2A>G
|
rs2059089321
|
|
NM_001429.4(EP300):c.3573T>A (p.Tyr1191Ter)
|
rs565779970
|
|
NM_001429.4(EP300):c.3589A>T (p.Arg1197Trp)
|
rs1340981566
|
|
NM_001429.4(EP300):c.3649G>A (p.Asp1217Asn)
|
rs1085307911
|
|
NM_001429.4(EP300):c.3671+1G>A
|
rs2059103511
|
|
NM_001429.4(EP300):c.3671+5G>C
|
|
|
NM_001429.4(EP300):c.3671+5_3671+8del
|
rs886042977
|
|
NM_001429.4(EP300):c.3729-1G>T
|
rs2145756375
|
|
NM_001429.4(EP300):c.3731TTG[1] (p.Val1245del)
|
rs1555910602
|
|
NM_001429.4(EP300):c.3733del (p.Val1245fs)
|
|
|
NM_001429.4(EP300):c.3749G>A (p.Cys1250Tyr)
|
rs1601629319
|
|
NM_001429.4(EP300):c.3889A>T (p.Arg1297Ter)
|
|
|
NM_001429.4(EP300):c.4016T>C (p.Met1339Thr)
|
rs1064795607
|
|
NM_001429.4(EP300):c.4070_4092del (p.Thr1357fs)
|
|
|
NM_001429.4(EP300):c.4173G>C (p.Arg1391Ser)
|
rs1464734494
|
|
NM_001429.4(EP300):c.4195G>A (p.Asp1399Asn)
|
rs1057519889
|
|
NM_001429.4(EP300):c.4195G>T (p.Asp1399Tyr)
|
rs1057519889
|
|
NM_001429.4(EP300):c.4232C>T (p.Thr1411Ile)
|
rs1601633708
|
|
NM_001429.4(EP300):c.4287-1G>T
|
|
|
NM_001429.4(EP300):c.4318C>A (p.Pro1440Thr)
|
|
|
NM_001429.4(EP300):c.4337A>G (p.Tyr1446Cys)
|
|
|
NM_001429.4(EP300):c.4371_4376del (p.Ile1457_Lys1459delinsMet)
|
rs1555911316
|
|
NM_001429.4(EP300):c.4452+5G>T
|
rs1555911334
|
|
NM_001429.4(EP300):c.4453-10_4453-8delinsAAAC
|
rs2145769898
|
|
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu)
|
rs1555911573
|
|
NM_001429.4(EP300):c.4540G>C (p.Glu1514Gln)
|
|
|
NM_001429.4(EP300):c.4578_4581del (p.Arg1527fs)
|
|
|
NM_001429.4(EP300):c.4692dup (p.Arg1565Ter)
|
rs1601636935
|
|
NM_001429.4(EP300):c.4763T>C (p.Met1588Thr)
|
rs1057521737
|
|
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val)
|
rs1057517732
|
|
NM_001429.4(EP300):c.4898T>G (p.Leu1633Arg)
|
|
|
NM_001429.4(EP300):c.5047T>C (p.Cys1683Arg)
|
rs2145513922
|
|
NM_001429.4(EP300):c.5074T>C (p.Cys1692Arg)
|
rs1555912107
|
|
NM_001429.4(EP300):c.5074T>G (p.Cys1692Gly)
|
rs1555912107
|
|
NM_001429.4(EP300):c.5245C>T (p.Arg1749Trp)
|
rs2145515250
|
|
NM_001429.4(EP300):c.5255A>G (p.Asn1752Ser)
|
|
|
NM_001429.4(EP300):c.5471A>C (p.Gln1824Pro)
|
rs1569120903
|
|
NM_001429.4(EP300):c.5483T>C (p.Leu1828Pro)
|
rs1057518002
|
|
NM_001429.4(EP300):c.5485C>T (p.Arg1829Cys)
|
rs2145516075
|
|
NM_001429.4(EP300):c.5486G>C (p.Arg1829Pro)
|
rs2145516079
|
|
NM_001429.4(EP300):c.5492G>C (p.Arg1831Thr)
|
rs1601639958
|
|
NM_001429.4(EP300):c.5493G>C (p.Arg1831Ser)
|
rs1379274045
|
|
NM_001429.4(EP300):c.5571_5578del (p.Gly1860fs)
|
rs1085307564
|
|
NM_001429.4(EP300):c.5873del (p.Pro1958fs)
|
rs2145518271
|
|
NM_001429.4(EP300):c.5894dup (p.Met1965fs)
|
|
|
NM_001429.4(EP300):c.5897del (p.Gly1966fs)
|
|
|
NM_001429.4(EP300):c.598C>T (p.Arg200Ter)
|
rs769721953
|
|
NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser)
|
rs1210404526
|
|
NM_001429.4(EP300):c.6015_6028del (p.Gln2005fs)
|
rs2059210417
|
|
NM_001429.4(EP300):c.6058del (p.Gln2020fs)
|
|
|
NM_001429.4(EP300):c.6121_6124del (p.Leu2041fs)
|
rs2059211409
|
|
NM_001429.4(EP300):c.6196C>T (p.Gln2066Ter)
|
rs1555912238
|
|
NM_001429.4(EP300):c.6454C>T (p.Gln2152Ter)
|
|
|
NM_001429.4(EP300):c.6532C>T (p.Gln2178Ter)
|
|
|
NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del)
|
rs875989807
|
|
NM_001429.4(EP300):c.6608dup (p.Gly2204fs)
|
rs2059215587
|
|
NM_001429.4(EP300):c.6659C>T (p.Pro2220Leu)
|
rs555467754
|
|
NM_001429.4(EP300):c.6691del (p.Met2231fs)
|
rs1601641819
|
|
NM_001429.4(EP300):c.6868C>T (p.Gln2290Ter)
|
rs1555912362
|
|
NM_001429.4(EP300):c.6970dup (p.His2324fs)
|
|
|
NM_001429.4(EP300):c.6986dup (p.Arg2330fs)
|
rs2059219404
|
|
NM_001429.4(EP300):c.7097del (p.Ser2366fs)
|
rs2059220495
|
|
NM_001429.4(EP300):c.7111T>A (p.Ser2371Thr)
|
rs2059220693
|
|
NM_001429.4(EP300):c.7223A>G (p.Gln2408Arg)
|
|
|