NM_004456.5(EZH2):c.965A>G (p.Asn322Ser)
|
rs151023145
|
0.00032
|
NM_004456.5(EZH2):c.907+5G>A
|
rs368128494
|
0.00019
|
NM_004456.5(EZH2):c.1884C>G (p.Gly628=)
|
rs61732846
|
0.00012
|
NM_004456.5(EZH2):c.1947G>A (p.Glu649=)
|
rs760495918
|
0.00007
|
NM_004456.5(EZH2):c.98G>A (p.Arg33Lys)
|
rs1196167328
|
0.00005
|
NM_004456.5(EZH2):c.118A>G (p.Ser40Gly)
|
rs754403133
|
0.00002
|
NM_004456.5(EZH2):c.1087C>T (p.Leu363Phe)
|
rs781431240
|
0.00001
|
NM_004456.5(EZH2):c.1178C>T (p.Thr393Met)
|
rs1200905474
|
0.00001
|
NM_004456.5(EZH2):c.1198_1203del (p.Lys400_Glu401del)
|
rs756400659
|
0.00001
|
NM_004456.5(EZH2):c.568G>A (p.Gly190Arg)
|
rs1808481008
|
0.00001
|
NM_004456.5(EZH2):c.623A>G (p.Asp208Gly)
|
rs61753264
|
0.00001
|
NM_004456.5(EZH2):c.688A>G (p.Met230Val)
|
rs779951996
|
0.00001
|
NM_004456.5(EZH2):c.958C>G (p.Leu320Val)
|
rs6954744
|
0.00001
|
NC_000007.13:g.(?_148504738)_(148544390_?)del
|
|
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NC_000007.14:g.(?_148807626)_(148819707_?)dup
|
|
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NM_004456.5(EZH2):c.-1_2del (p.Met1del)
|
|
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NM_004456.5(EZH2):c.1024G>C (p.Ala342Pro)
|
|
|
NM_004456.5(EZH2):c.1044A>G (p.Ile348Met)
|
rs2129471812
|
|
NM_004456.5(EZH2):c.1054C>G (p.Pro352Ala)
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|
|
NM_004456.5(EZH2):c.1054C>T (p.Pro352Ser)
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|
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NM_004456.5(EZH2):c.1070G>C (p.Gly357Ala)
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|
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NM_004456.5(EZH2):c.1094A>G (p.Asn365Ser)
|
rs1285260202
|
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NM_004456.5(EZH2):c.1097A>G (p.Asn366Ser)
|
|
|
NM_004456.5(EZH2):c.1144G>A (p.Asp382Asn)
|
rs1805036322
|
|
NM_004456.5(EZH2):c.1147A>G (p.Thr383Ala)
|
|
|
NM_004456.5(EZH2):c.117+4T>C
|
rs1814379605
|
|
NM_004456.5(EZH2):c.1172C>T (p.Thr391Ile)
|
rs1375591963
|
|
NM_004456.5(EZH2):c.1181G>C (p.Gly394Ala)
|
rs587778305
|
|
NM_004456.5(EZH2):c.1194T>A (p.Asn398Lys)
|
rs2129471668
|
|
NM_004456.5(EZH2):c.1198_1200del (p.Lys400del)
|
rs780357774
|
|
NM_004456.5(EZH2):c.1200AGA[3] (p.Glu404del)
|
rs775039041
|
|
NM_004456.5(EZH2):c.1201G>C (p.Glu401Gln)
|
rs1805019052
|
|
NM_004456.5(EZH2):c.1210_1212del (p.Glu404del)
|
rs1805013708
|
|
NM_004456.5(EZH2):c.1215G>C (p.Lys405Asn)
|
|
|
NM_004456.5(EZH2):c.1246A>G (p.Asn416Asp)
|
|
|
NM_004456.5(EZH2):c.1258C>G (p.Gln420Glu)
|
|
|
NM_004456.5(EZH2):c.1260A>T (p.Gln420His)
|
|
|
NM_004456.5(EZH2):c.1267A>G (p.Ile423Val)
|
|
|
NM_004456.5(EZH2):c.1286T>A (p.Ile429Asn)
|
rs770327434
|
|
NM_004456.5(EZH2):c.1306G>A (p.Glu436Lys)
|
|
|
NM_004456.5(EZH2):c.1330A>G (p.Met444Val)
|
rs1425631167
|
|
NM_004456.5(EZH2):c.1364A>G (p.Asn455Ser)
|
|
|
NM_004456.5(EZH2):c.1419G>T (p.Glu473Asp)
|
rs1190049532
|
|
NM_004456.5(EZH2):c.1456C>G (p.Pro486Ala)
|
|
|
NM_004456.5(EZH2):c.1474A>T (p.Thr492Ser)
|
rs770006533
|
|
NM_004456.5(EZH2):c.1506-16_1506-13del
|
|
|
NM_004456.5(EZH2):c.1506-22_1506-19del
|
|
|
NM_004456.5(EZH2):c.1533A>G (p.Ile511Met)
|
rs1804313910
|
|
NM_004456.5(EZH2):c.1574A>G (p.Tyr525Cys)
|
|
|
NM_004456.5(EZH2):c.1579C>A (p.Pro527Thr)
|
rs2129470135
|
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NM_004456.5(EZH2):c.1613C>A (p.Ser538Ter)
|
rs1804158896
|
|
NM_004456.5(EZH2):c.1672+2dup
|
rs2129470090
|
|
NM_004456.5(EZH2):c.1682G>T (p.Arg561Leu)
|
rs1164610428
|
|
NM_004456.5(EZH2):c.1696C>A (p.Arg566Ser)
|
rs1554486440
|
|
NM_004456.5(EZH2):c.1717A>T (p.Thr573Ser)
|
|
|
NM_004456.5(EZH2):c.1763A>G (p.Asp588Gly)
|
|
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NM_004456.5(EZH2):c.1771C>G (p.Leu591Val)
|
|
|
NM_004456.5(EZH2):c.1841G>C (p.Gly614Ala)
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|
|
NM_004456.5(EZH2):c.1879G>T (p.Ala627Ser)
|
|
|
NM_004456.5(EZH2):c.188G>A (p.Arg63Gln)
|
|
|
NM_004456.5(EZH2):c.1927A>C (p.Ile643Leu)
|
|
|
NM_004456.5(EZH2):c.1947G>C (p.Glu649Asp)
|
|
|
NM_004456.5(EZH2):c.1949T>C (p.Ile650Thr)
|
|
|
NM_004456.5(EZH2):c.2021del (p.Asn673_Leu674insTer)
|
rs2129468225
|
|
NM_004456.5(EZH2):c.2026A>G (p.Asn676Asp)
|
|
|
NM_004456.5(EZH2):c.2029+18G>T
|
rs777082272
|
|
NM_004456.5(EZH2):c.2029+3_2029+25del
|
|
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NM_004456.5(EZH2):c.2029+4T>C
|
|
|
NM_004456.5(EZH2):c.2030-5T>G
|
rs763969852
|
|
NM_004456.5(EZH2):c.2048C>T (p.Thr683Ile)
|
|
|
NM_004456.5(EZH2):c.2051G>A (p.Arg684His)
|
|
|
NM_004456.5(EZH2):c.2079T>A (p.Asn693Lys)
|
rs2129467665
|
|
NM_004456.5(EZH2):c.208A>G (p.Ile70Val)
|
|
|
NM_004456.5(EZH2):c.2105C>T (p.Ala702Val)
|
|
|
NM_004456.5(EZH2):c.2111-3_2115dup
|
|
|
NM_004456.5(EZH2):c.2113A>G (p.Met705Val)
|
|
|
NM_004456.5(EZH2):c.2173G>A (p.Glu725Lys)
|
|
|
NM_004456.5(EZH2):c.2195+4G>A
|
rs1392250326
|
|
NM_004456.5(EZH2):c.2195+4G>C
|
rs1392250326
|
|
NM_004456.5(EZH2):c.2196-2A>G
|
rs1584844649
|
|
NM_004456.5(EZH2):c.2220G>C (p.Lys740Asn)
|
|
|
NM_004456.5(EZH2):c.2230_2232dup (p.Ile744_Glu745insIle)
|
|
|
NM_004456.5(EZH2):c.2234A>G (p.Glu745Gly)
|
rs1584844048
|
|
NM_004456.5(EZH2):c.2250C>G (p.Ile750Met)
|
rs779629814
|
|
NM_004456.5(EZH2):c.239C>T (p.Thr80Ile)
|
|
|
NM_004456.5(EZH2):c.241A>G (p.Arg81Gly)
|
|
|
NM_004456.5(EZH2):c.283G>A (p.Val95Ile)
|
rs2129478065
|
|
NM_004456.5(EZH2):c.284T>G (p.Val95Gly)
|
|
|
NM_004456.5(EZH2):c.310G>A (p.Val104Ile)
|
|
|
NM_004456.5(EZH2):c.364-20A>G
|
rs2129477058
|
|
NM_004456.5(EZH2):c.397T>G (p.Tyr133Asp)
|
|
|
NM_004456.5(EZH2):c.432T>G (p.Thr144=)
|
rs2129476946
|
|
NM_004456.5(EZH2):c.437T>C (p.Ile146Thr)
|
|
|
NM_004456.5(EZH2):c.442G>A (p.Glu148Lys)
|
rs1808814702
|
|
NM_004456.5(EZH2):c.44G>T (p.Trp15Leu)
|
rs760133156
|
|
NM_004456.5(EZH2):c.484+6C>T
|
rs2129476856
|
|
NM_004456.5(EZH2):c.515T>C (p.Val172Ala)
|
|
|
NM_004456.5(EZH2):c.532C>G (p.Leu178Val)
|
|
|
NM_004456.5(EZH2):c.535G>A (p.Gly179Ser)
|
|
|
NM_004456.5(EZH2):c.536G>C (p.Gly179Ala)
|
|
|
NM_004456.5(EZH2):c.546TGA[2] (p.Asp189del)
|
rs766699965
|
|
NM_004456.5(EZH2):c.549T>A (p.Asp183Glu)
|
|
|
NM_004456.5(EZH2):c.557ATG[3] (p.Asp189del)
|
rs587778303
|
|
NM_004456.5(EZH2):c.562G>A (p.Asp188Asn)
|
rs1585021829
|
|
NM_004456.5(EZH2):c.587G>C (p.Arg196Thr)
|
rs1051056437
|
|
NM_004456.5(EZH2):c.625+4T>C
|
|
|
NM_004456.5(EZH2):c.626-3T>C
|
rs775960927
|
|
NM_004456.5(EZH2):c.626A>T (p.Asp209Val)
|
rs1807983236
|
|
NM_004456.5(EZH2):c.644C>T (p.Pro215Leu)
|
|
|
NM_004456.5(EZH2):c.679A>G (p.Ile227Val)
|
|
|
NM_004456.5(EZH2):c.709G>A (p.Ala237Thr)
|
|
|
NM_004456.5(EZH2):c.71T>C (p.Met24Thr)
|
rs2129485374
|
|
NM_004456.5(EZH2):c.729-12G>A
|
|
|
NM_004456.5(EZH2):c.742A>G (p.Thr248Ala)
|
|
|
NM_004456.5(EZH2):c.74G>A (p.Arg25Gln)
|
rs2129485373
|
|
NM_004456.5(EZH2):c.754C>T (p.Leu252Phe)
|
rs2129475548
|
|
NM_004456.5(EZH2):c.763G>A (p.Ala255Thr)
|
|
|
NM_004456.5(EZH2):c.764C>T (p.Ala255Val)
|
|
|
NM_004456.5(EZH2):c.775G>C (p.Glu259Gln)
|
rs1807775523
|
|
NM_004456.5(EZH2):c.787A>G (p.Asn263Asp)
|
|
|
NM_004456.5(EZH2):c.811T>C (p.Ser271Pro)
|
rs2129475506
|
|
NM_004456.5(EZH2):c.824A>C (p.Glu275Ala)
|
|
|
NM_004456.5(EZH2):c.899G>A (p.Cys300Tyr)
|
|
|
NM_004456.5(EZH2):c.900C>G (p.Cys300Trp)
|
|
|
NM_004456.5(EZH2):c.906T>C (p.Tyr302=)
|
|
|
NM_004456.5(EZH2):c.907+4C>T
|
|
|
NM_004456.5(EZH2):c.946A>G (p.Thr316Ala)
|
|
|
NM_004456.5(EZH2):c.956C>T (p.Ala319Val)
|
rs1805459613
|
|
NM_004456.5(EZH2):c.963C>G (p.Asp321Glu)
|
|
|
NM_004456.5(EZH2):c.968A>T (p.Lys323Ile)
|
|
|
NM_004456.5(EZH2):c.9G>C (p.Gln3His)
|
rs1359374351
|
|