|
NM_004456.5(EZH2):c.553G>C (p.Asp185His)
|
rs2302427
|
0.05998
|
|
NM_004456.5(EZH2):c.2110+6T>G
|
rs41277434
|
0.04917
|
|
NM_004456.5(EZH2):c.1017T>C (p.Phe339=)
|
rs77051363
|
0.01331
|
|
NM_004456.5(EZH2):c.1731G>A (p.Pro577=)
|
rs41277437
|
0.01093
|
|
NM_004456.5(EZH2):c.485-7G>A
|
rs112932272
|
0.00984
|
|
NM_004456.5(EZH2):c.728+19G>C
|
rs114692729
|
0.00566
|
|
NM_004456.5(EZH2):c.2028T>C (p.Asn676=)
|
rs115842196
|
0.00457
|
|
NM_004456.5(EZH2):c.396T>C (p.Pro132=)
|
rs61732845
|
0.00454
|
|
NM_004456.5(EZH2):c.484+13C>T
|
rs140616632
|
0.00261
|
|
NM_004456.5(EZH2):c.1852-6C>T
|
rs78589034
|
0.00208
|
|
NM_004456.5(EZH2):c.1852-9A>G
|
rs199654408
|
0.00166
|
|
NM_004456.5(EZH2):c.1240+9C>A
|
rs114320893
|
0.00121
|
|
NM_004456.5(EZH2):c.1505+12A>G
|
rs192767078
|
0.00112
|
|
NM_004456.5(EZH2):c.1506-19T>G
|
rs199970231
|
0.00079
|
|
NM_004456.5(EZH2):c.625+5G>A
|
rs143615322
|
0.00066
|
|
NM_004456.5(EZH2):c.1452A>G (p.Pro484=)
|
rs148524884
|
0.00048
|
|
NM_004456.5(EZH2):c.657T>C (p.Pro219=)
|
rs148843424
|
0.00034
|
|
NM_004456.5(EZH2):c.965A>G (p.Asn322Ser)
|
rs151023145
|
0.00032
|
|
NM_004456.5(EZH2):c.1392G>A (p.Gly464=)
|
rs202179686
|
0.00024
|
|
NM_004456.5(EZH2):c.165C>G (p.Ile55Met)
|
rs199645805
|
0.00024
|
|
NM_004456.5(EZH2):c.1983A>G (p.Lys661=)
|
rs201616806
|
0.00024
|
|
NM_004456.5(EZH2):c.1547-10C>T
|
rs202184941
|
0.00023
|
|
NM_004456.5(EZH2):c.1281A>G (p.Pro427=)
|
rs530239078
|
0.00022
|
|
NM_004456.5(EZH2):c.1240+10G>A
|
rs374888907
|
0.00021
|
|
NM_004456.5(EZH2):c.1458C>T (p.Pro486=)
|
rs376661392
|
0.00019
|
|
NM_004456.5(EZH2):c.907+5G>A
|
rs368128494
|
0.00019
|
|
NM_004456.5(EZH2):c.1689G>C (p.Pro563=)
|
rs144723981
|
0.00016
|
|
NM_004456.5(EZH2):c.2226C>T (p.Val742=)
|
rs148228353
|
0.00016
|
|
NM_004456.5(EZH2):c.1506-13T>C
|
rs778651288
|
0.00015
|
|
NM_004456.5(EZH2):c.2172C>T (p.Gly724=)
|
rs141143319
|
0.00015
|
|
NM_004456.5(EZH2):c.234C>T (p.Arg78=)
|
rs140399505
|
0.00015
|
|
NM_004456.5(EZH2):c.1000-5C>T
|
rs560591359
|
0.00012
|
|
NM_004456.5(EZH2):c.1884C>G (p.Gly628=)
|
rs61732846
|
0.00012
|
|
NM_004456.5(EZH2):c.933T>C (p.Tyr311=)
|
rs114765515
|
0.00012
|
|
NM_004456.5(EZH2):c.1786G>A (p.Ala596Thr)
|
rs139878257
|
0.00011
|
|
NM_004456.5(EZH2):c.626-15T>C
|
rs377135033
|
0.00011
|
|
NM_004456.5(EZH2):c.2124C>T (p.Asn708=)
|
rs369705964
|
0.00009
|
|
NM_004456.5(EZH2):c.484+10A>G
|
rs370302056
|
0.00009
|
|
NM_004456.5(EZH2):c.1416T>C (p.Tyr472=)
|
rs369851191
|
0.00008
|
|
NM_004456.5(EZH2):c.149T>C (p.Leu50Ser)
|
rs775407864
|
0.00008
|
|
NM_004456.5(EZH2):c.1110C>T (p.Pro370=)
|
rs201699310
|
0.00007
|
|
NM_004456.5(EZH2):c.1947G>A (p.Glu649=)
|
rs760495918
|
0.00007
|
|
NM_004456.5(EZH2):c.474C>T (p.His158=)
|
rs147319809
|
0.00007
|
|
NM_004456.5(EZH2):c.1000-4G>A
|
rs61753265
|
0.00006
|
|
NM_004456.5(EZH2):c.1302T>C (p.Asn434=)
|
rs747539040
|
0.00006
|
|
NM_004456.5(EZH2):c.1719C>A (p.Thr573=)
|
rs186989444
|
0.00006
|
|
NM_004456.5(EZH2):c.2029+17G>A
|
rs769129417
|
0.00006
|
|
NM_004456.5(EZH2):c.2110+15C>T
|
rs533049074
|
0.00006
|
|
NM_004456.5(EZH2):c.972T>G (p.Pro324=)
|
rs574201179
|
0.00006
|
|
NM_004456.5(EZH2):c.2223T>C (p.Tyr741=)
|
rs748102400
|
0.00005
|
|
NM_004456.5(EZH2):c.485-8C>T
|
rs778120645
|
0.00005
|
|
NM_004456.5(EZH2):c.98G>A (p.Arg33Lys)
|
rs1196167328
|
0.00005
|
|
NM_004456.5(EZH2):c.1000-11T>G
|
rs749881299
|
0.00004
|
|
NM_004456.5(EZH2):c.1104C>T (p.Ser368=)
|
rs184733138
|
0.00004
|
|
NM_004456.5(EZH2):c.1548C>T (p.Asp516=)
|
rs199901053
|
0.00004
|
|
NM_004456.5(EZH2):c.2110+7A>T
|
rs772263146
|
0.00004
|
|
NM_004456.5(EZH2):c.485-17C>A
|
rs764034832
|
0.00004
|
|
NM_004456.5(EZH2):c.555C>T (p.Asp185=)
|
rs555589547
|
0.00004
|
|
NM_004456.5(EZH2):c.573C>T (p.Asp191=)
|
rs377682721
|
0.00004
|
|
NM_004456.5(EZH2):c.625+12T>G
|
rs369310375
|
0.00004
|
|
NM_004456.5(EZH2):c.646C>T (p.Arg216Trp)
|
rs771139896
|
0.00004
|
|
NM_004456.5(EZH2):c.729-15C>T
|
rs373592404
|
0.00004
|
|
NM_004456.5(EZH2):c.1505+19T>A
|
rs375481774
|
0.00003
|
|
NM_004456.5(EZH2):c.2232C>T (p.Ile744=)
|
rs373975096
|
0.00003
|
|
NM_004456.5(EZH2):c.232C>T (p.Arg78Cys)
|
rs141583753
|
0.00003
|
|
NM_004456.5(EZH2):c.372T>C (p.Asp124=)
|
rs765380980
|
0.00003
|
|
NM_004456.5(EZH2):c.637C>T (p.Arg213Cys)
|
rs112029831
|
0.00003
|
|
NM_004456.5(EZH2):c.638G>A (p.Arg213His)
|
rs377467108
|
0.00003
|
|
NM_004456.5(EZH2):c.118A>G (p.Ser40Gly)
|
rs754403133
|
0.00002
|
|
NM_004456.5(EZH2):c.1241-9G>T
|
rs888876162
|
0.00002
|
|
NM_004456.5(EZH2):c.1411-12G>A
|
rs773726378
|
0.00002
|
|
NM_004456.5(EZH2):c.1424G>C (p.Arg475Thr)
|
rs1336390351
|
0.00002
|
|
NM_004456.5(EZH2):c.1459G>A (p.Ala487Thr)
|
rs201135441
|
0.00002
|
|
NM_004456.5(EZH2):c.1555T>C (p.Ser519Pro)
|
rs747009766
|
0.00002
|
|
NM_004456.5(EZH2):c.159G>A (p.Thr53=)
|
rs749258482
|
0.00002
|
|
NM_004456.5(EZH2):c.1686T>C (p.Phe562=)
|
rs777160626
|
0.00002
|
|
NM_004456.5(EZH2):c.1785C>T (p.Ala595=)
|
rs369883286
|
0.00002
|
|
NM_004456.5(EZH2):c.1905T>C (p.Asp635=)
|
rs372010918
|
0.00002
|
|
NM_004456.5(EZH2):c.364-17A>G
|
rs752077109
|
0.00002
|
|
NM_004456.5(EZH2):c.574G>A (p.Asp192Asn)
|
rs778968366
|
0.00002
|
|
NM_004456.5(EZH2):c.930T>G (p.Thr310=)
|
rs754379530
|
0.00002
|
|
NM_004456.5(EZH2):c.100C>A (p.Arg34=)
|
rs772477320
|
0.00001
|
|
NM_004456.5(EZH2):c.1087C>T (p.Leu363Phe)
|
rs781431240
|
0.00001
|
|
NM_004456.5(EZH2):c.1091C>T (p.Pro364Leu)
|
rs757601923
|
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.1206A>G (p.Glu402=)
|
rs768486638
|
0.00001
|
|
NM_004456.5(EZH2):c.1230G>A (p.Ser410=)
|
rs1429151324
|
0.00001
|
|
NM_004456.5(EZH2):c.1245A>C (p.Ala415=)
|
rs764010885
|
0.00001
|
|
NM_004456.5(EZH2):c.1377T>C (p.Ile459=)
|
rs1353514491
|
0.00001
|
|
NM_004456.5(EZH2):c.139C>G (p.Gln47Glu)
|
rs972308238
|
0.00001
|
|
NM_004456.5(EZH2):c.1411-8C>T
|
rs762273009
|
0.00001
|
|
NM_004456.5(EZH2):c.1505+9G>T
|
rs754592806
|
0.00001
|
|
NM_004456.5(EZH2):c.1546+7A>G
|
rs201338384
|
0.00001
|
|
NM_004456.5(EZH2):c.1672+8T>C
|
rs1177987694
|
0.00001
|
|
NM_004456.5(EZH2):c.1852-5T>C
|
rs768218975
|
0.00001
|
|
NM_004456.5(EZH2):c.186G>A (p.Gln62=)
|
rs1468342429
|
0.00001
|
|
NM_004456.5(EZH2):c.1896T>C (p.Phe632=)
|
rs1210129833
|
0.00001
|
|
NM_004456.5(EZH2):c.2040G>A (p.Val680=)
|
rs762681573
|
0.00001
|
|
NM_004456.5(EZH2):c.2110+9C>G
|
rs768904493
|
0.00001
|
|
NM_004456.5(EZH2):c.2111-10C>T
|
rs1802357393
|
0.00001
|
|
NM_004456.5(EZH2):c.251C>T (p.Ser84Leu)
|
rs1182369323
|
0.00001
|
|
NM_004456.5(EZH2):c.484+15T>G
|
rs528868013
|
0.00001
|
|
NM_004456.5(EZH2):c.537T>G (p.Gly179=)
|
rs776298138
|
0.00001
|
|
NM_004456.5(EZH2):c.545A>G (p.Asn182Ser)
|
rs746465165
|
0.00001
|
|
NM_004456.5(EZH2):c.557A>G (p.Asp186Gly)
|
rs1346782884
|
0.00001
|
|
NM_004456.5(EZH2):c.568G>A (p.Gly190Arg)
|
rs1808481008
|
0.00001
|
|
NM_004456.5(EZH2):c.604G>A (p.Asp202Asn)
|
rs192731117
|
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.728+7A>C
|
rs1231001121
|
0.00001
|
|
NM_004456.5(EZH2):c.732T>C (p.Tyr244=)
|
rs767727122
|
0.00001
|
|
NM_004456.5(EZH2):c.792A>C (p.Ile264=)
|
rs1807771501
|
0.00001
|
|
NM_004456.5(EZH2):c.908-14C>G
|
rs371337932
|
0.00001
|
|
NM_004456.5(EZH2):c.958C>G (p.Leu320Val)
|
rs6954744
|
0.00001
|
|
NM_004456.5(EZH2):c.963C>T (p.Asp321=)
|
rs762088344
|
0.00001
|
|
NC_000007.13:g.(?_147259210)_(148544390_?)dup
|
|
|
|
NC_000007.13:g.(?_147600637)_(148544390_?)dup
|
|
|
|
NC_000007.13:g.(?_148504738)_(148544390_?)del
|
|
|
|
NC_000007.14:g.(?_148807626)_(148819707_?)dup
|
|
|
|
NM_004456.5(EZH2):c.-1_2del (p.Met1del)
|
|
|
|
NM_004456.5(EZH2):c.1000-13T>C
|
|
|
|
NM_004456.5(EZH2):c.1000-14T>G
|
|
|
|
NM_004456.5(EZH2):c.1000-19_1000-17del
|
rs2129471867
|
|
|
NM_004456.5(EZH2):c.1000-7T>G
|
|
|
|
NM_004456.5(EZH2):c.1014G>A (p.Glu338=)
|
|
|
|
NM_004456.5(EZH2):c.1024G>C (p.Ala342Pro)
|
|
|
|
NM_004456.5(EZH2):c.1030A>G (p.Thr344Ala)
|
rs1309469934
|
|
|
NM_004456.5(EZH2):c.1032C>T (p.Thr344=)
|
|
|
|
NM_004456.5(EZH2):c.1033G>A (p.Ala345Thr)
|
|
|
|
NM_004456.5(EZH2):c.1044A>G (p.Ile348Met)
|
rs2129471812
|
|
|
NM_004456.5(EZH2):c.1050C>A (p.Thr350=)
|
rs1478611049
|
|
|
NM_004456.5(EZH2):c.1054C>G (p.Pro352Ala)
|
|
|
|
NM_004456.5(EZH2):c.1054C>T (p.Pro352Ser)
|
|
|
|
NM_004456.5(EZH2):c.1061G>A (p.Arg354His)
|
|
|
|
NM_004456.5(EZH2):c.1063C>A (p.Pro355Thr)
|
|
|
|
NM_004456.5(EZH2):c.1070G>C (p.Gly357Ala)
|
|
|
|
NM_004456.5(EZH2):c.1140A>G (p.Ser380=)
|
rs752843868
|
|
|
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+16T>C
|
|
|
|
NM_004456.5(EZH2):c.117+4T>C
|
rs1814379605
|
|
|
NM_004456.5(EZH2):c.1172C>T (p.Thr391Ile)
|
rs1375591963
|
|
|
NM_004456.5(EZH2):c.1179G>A (p.Thr393=)
|
rs770102474
|
|
|
NM_004456.5(EZH2):c.1179G>C (p.Thr393=)
|
rs770102474
|
|
|
NM_004456.5(EZH2):c.1179G>T (p.Thr393=)
|
rs770102474
|
|
|
NM_004456.5(EZH2):c.118-15del
|
|
|
|
NM_004456.5(EZH2):c.118-16_118-13del
|
|
|
|
NM_004456.5(EZH2):c.118-17T>C
|
|
|
|
NM_004456.5(EZH2):c.118-17del
|
|
|
|
NM_004456.5(EZH2):c.118-18T>A
|
|
|
|
NM_004456.5(EZH2):c.118-18_118-16del
|
rs775795844
|
|
|
NM_004456.5(EZH2):c.118-22_118-18del
|
|
|
|
NM_004456.5(EZH2):c.118-4T>A
|
|
|
|
NM_004456.5(EZH2):c.118-4del
|
rs3214332
|
|
|
NM_004456.5(EZH2):c.118-4dup
|
|
|
|
NM_004456.5(EZH2):c.118-5_118-4del
|
rs3214332
|
|
|
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.1209A>G (p.Glu403=)
|
rs199543597
|
|
|
NM_004456.5(EZH2):c.1210_1212del (p.Glu404del)
|
rs1805013708
|
|
|
NM_004456.5(EZH2):c.1215G>C (p.Lys405Asn)
|
|
|
|
NM_004456.5(EZH2):c.1218A>G (p.Lys406=)
|
|
|
|
NM_004456.5(EZH2):c.1221T>C (p.Asp407=)
|
|
|
|
NM_004456.5(EZH2):c.1223A>G (p.Glu408Gly)
|
|
|
|
NM_004456.5(EZH2):c.1237T>A (p.Ser413Thr)
|
|
|
|
NM_004456.5(EZH2):c.1240+13T>G
|
|
|
|
NM_004456.5(EZH2):c.1240+14A>G
|
|
|
|
NM_004456.5(EZH2):c.1240+7C>T
|
|
|
|
NM_004456.5(EZH2):c.1241-14A>G
|
|
|
|
NM_004456.5(EZH2):c.1245A>G (p.Ala415=)
|
|
|
|
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.1263A>G (p.Thr421=)
|
rs764997925
|
|
|
NM_004456.5(EZH2):c.1267A>G (p.Ile423Val)
|
|
|
|
NM_004456.5(EZH2):c.1276A>G (p.Lys426Glu)
|
|
|
|
NM_004456.5(EZH2):c.1286T>A (p.Ile429Asn)
|
rs770327434
|
|
|
NM_004456.5(EZH2):c.12T>G (p.Thr4=)
|
rs1002163012
|
|
|
NM_004456.5(EZH2):c.1306G>A (p.Glu436Lys)
|
|
|
|
NM_004456.5(EZH2):c.1320T>A (p.Ala440=)
|
rs2129471359
|
|
|
NM_004456.5(EZH2):c.1330A>G (p.Met444Val)
|
rs1425631167
|
|
|
NM_004456.5(EZH2):c.1335T>C (p.Phe445=)
|
|
|
|
NM_004456.5(EZH2):c.1347T>C (p.Ile449=)
|
|
|
|
NM_004456.5(EZH2):c.1353T>C (p.Thr451=)
|
|
|
|
NM_004456.5(EZH2):c.1362C>T (p.Asp454=)
|
rs1804808760
|
|
|
NM_004456.5(EZH2):c.1364A>G (p.Asn455Ser)
|
|
|
|
NM_004456.5(EZH2):c.1370G>A (p.Cys457Tyr)
|
|
|
|
NM_004456.5(EZH2):c.1410+11C>T
|
|
|
|
NM_004456.5(EZH2):c.1410+19A>G
|
rs916007011
|
|
|
NM_004456.5(EZH2):c.1410+9T>C
|
|
|
|
NM_004456.5(EZH2):c.1411-13_1411-12del
|
|
|
|
NM_004456.5(EZH2):c.1411-17_1411-12dup
|
rs2129471166
|
|
|
NM_004456.5(EZH2):c.1411-20G>C
|
|
|
|
NM_004456.5(EZH2):c.1413G>A (p.Val471=)
|
rs1182052939
|
|
|
NM_004456.5(EZH2):c.1413G>T (p.Val471=)
|
|
|
|
NM_004456.5(EZH2):c.1419G>T (p.Glu473Asp)
|
rs1190049532
|
|
|
NM_004456.5(EZH2):c.1428C>A (p.Val476=)
|
|
|
|
NM_004456.5(EZH2):c.1456C>G (p.Pro486Ala)
|
|
|
|
NM_004456.5(EZH2):c.1458C>G (p.Pro486=)
|
|
|
|
NM_004456.5(EZH2):c.1461T>C (p.Ala487=)
|
rs2129471140
|
|
|
NM_004456.5(EZH2):c.1467T>C (p.Asp489=)
|
|
|
|
NM_004456.5(EZH2):c.1474A>T (p.Thr492Ser)
|
rs770006533
|
|
|
NM_004456.5(EZH2):c.1488A>G (p.Lys496=)
|
|
|
|
NM_004456.5(EZH2):c.148T>G (p.Leu50Val)
|
|
|
|
NM_004456.5(EZH2):c.1505+10T>A
|
|
|
|
NM_004456.5(EZH2):c.1505+12A>T
|
|
|
|
NM_004456.5(EZH2):c.1505+20C>G
|
rs79268614
|
|
|
NM_004456.5(EZH2):c.1506-16C>A
|
|
|
|
NM_004456.5(EZH2):c.1506-16_1506-13del
|
|
|
|
NM_004456.5(EZH2):c.1506-17del
|
|
|
|
NM_004456.5(EZH2):c.1506-22_1506-19del
|
|
|
|
NM_004456.5(EZH2):c.1533A>G (p.Ile511Met)
|
rs1804313910
|
|
|
NM_004456.5(EZH2):c.1546+19C>G
|
|
|
|
NM_004456.5(EZH2):c.1546+20T>C
|
|
|
|
NM_004456.5(EZH2):c.1547-8T>C
|
|
|
|
NM_004456.5(EZH2):c.1549G>A (p.Gly517Ser)
|
|
|
|
NM_004456.5(EZH2):c.1551C>G (p.Gly517=)
|
|
|
|
NM_004456.5(EZH2):c.1560C>T (p.Asn520=)
|
|
|
|
NM_004456.5(EZH2):c.1574A>G (p.Tyr525Cys)
|
|
|
|
NM_004456.5(EZH2):c.158C>T (p.Thr53Met)
|
rs768812143
|
|
|
NM_004456.5(EZH2):c.1613C>A (p.Ser538Ter)
|
rs1804158896
|
|
|
NM_004456.5(EZH2):c.1614G>C (p.Ser538=)
|
rs779840919
|
|
|
NM_004456.5(EZH2):c.1659A>G (p.Gln553=)
|
|
|
|
NM_004456.5(EZH2):c.1672+14G>A
|
|
|
|
NM_004456.5(EZH2):c.1672+15C>G
|
|
|
|
NM_004456.5(EZH2):c.1672+19G>C
|
|
|
|
NM_004456.5(EZH2):c.1672+20A>G
|
|
|
|
NM_004456.5(EZH2):c.1672+2dup
|
rs2129470090
|
|
|
NM_004456.5(EZH2):c.1680C>T (p.Asn560=)
|
rs1182777179
|
|
|
NM_004456.5(EZH2):c.1681C>T (p.Arg561Cys)
|
|
|
|
NM_004456.5(EZH2):c.1682G>T (p.Arg561Leu)
|
rs1164610428
|
|
|
NM_004456.5(EZH2):c.1688C>T (p.Pro563Leu)
|
|
|
|
NM_004456.5(EZH2):c.1689G>T (p.Pro563=)
|
|
|
|
NM_004456.5(EZH2):c.1696C>A (p.Arg566Ser)
|
rs1554486440
|
|
|
NM_004456.5(EZH2):c.1698C>T (p.Arg566=)
|
|
|
|
NM_004456.5(EZH2):c.1704A>G (p.Lys568=)
|
|
|
|
NM_004456.5(EZH2):c.1707A>T (p.Ala569=)
|
|
|
|
NM_004456.5(EZH2):c.1717A>T (p.Thr573Ser)
|
|
|
|
NM_004456.5(EZH2):c.1749A>G (p.Arg583=)
|
|
|
|
NM_004456.5(EZH2):c.1763A>G (p.Asp588Gly)
|
|
|
|
NM_004456.5(EZH2):c.1771C>G (p.Leu591Val)
|
|
|
|
NM_004456.5(EZH2):c.1779T>C (p.Cys593=)
|
|
|
|
NM_004456.5(EZH2):c.177A>G (p.Glu59=)
|
rs1240590434
|
|
|
NM_004456.5(EZH2):c.1809T>C (p.Asn603=)
|
rs1473254071
|
|
|
NM_004456.5(EZH2):c.1815C>T (p.Ser605=)
|
|
|
|
NM_004456.5(EZH2):c.1824C>T (p.Asn608=)
|
rs2129469777
|
|
|
NM_004456.5(EZH2):c.182A>G (p.Lys61Arg)
|
|
|
|
NM_004456.5(EZH2):c.1841G>C (p.Gly614Ala)
|
|
|
|
NM_004456.5(EZH2):c.1851+11A>G
|
|
|
|
NM_004456.5(EZH2):c.1851+12G>A
|
rs1803874326
|
|
|
NM_004456.5(EZH2):c.1851+8A>T
|
|
|
|
NM_004456.5(EZH2):c.1852-19A>G
|
|
|
|
NM_004456.5(EZH2):c.1852-4C>G
|
|
|
|
NM_004456.5(EZH2):c.1852-9A>C
|
rs199654408
|
|
|
NM_004456.5(EZH2):c.1875C>T (p.Asp625=)
|
|
|
|
NM_004456.5(EZH2):c.1876G>A (p.Val626Met)
|
rs587783625
|
|
|
NM_004456.5(EZH2):c.1879G>T (p.Ala627Ser)
|
|
|
|
NM_004456.5(EZH2):c.188G>A (p.Arg63Gln)
|
|
|
|
NM_004456.5(EZH2):c.1890G>A (p.Gly630=)
|
|
|
|
NM_004456.5(EZH2):c.1899C>A (p.Ile633=)
|
|
|
|
NM_004456.5(EZH2):c.1908T>C (p.Pro636=)
|
|
|
|
NM_004456.5(EZH2):c.1927A>C (p.Ile643Leu)
|
|
|
|
NM_004456.5(EZH2):c.1947+10T>G
|
|
|
|
NM_004456.5(EZH2):c.1947+12A>G
|
|
|
|
NM_004456.5(EZH2):c.1947+9C>T
|
|
|
|
NM_004456.5(EZH2):c.1947G>C (p.Glu649Asp)
|
|
|
|
NM_004456.5(EZH2):c.1948-10_1948-9del
|
|
|
|
NM_004456.5(EZH2):c.1948-16G>C
|
|
|
|
NM_004456.5(EZH2):c.1948-18C>T
|
|
|
|
NM_004456.5(EZH2):c.1948-20T>C
|
|
|
|
NM_004456.5(EZH2):c.1948-3del
|
|
|
|
NM_004456.5(EZH2):c.1948-8_1948-4del
|
rs1233925623
|
|
|
NM_004456.5(EZH2):c.1949T>C (p.Ile650Thr)
|
|
|
|
NM_004456.5(EZH2):c.1990G>T (p.Asp664Tyr)
|
rs1060503430
|
|
|
NM_004456.5(EZH2):c.2000T>C (p.Met667Thr)
|
rs1584875099
|
|
|
NM_004456.5(EZH2):c.2006G>A (p.Ser669Asn)
|
rs2129468233
|
|
|
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+10A>G
|
rs1242802484
|
|
|
NM_004456.5(EZH2):c.2029+14del
|
|
|
|
NM_004456.5(EZH2):c.2029+18G>A
|
|
|
|
NM_004456.5(EZH2):c.2029+18G>C
|
|
|
|
NM_004456.5(EZH2):c.2029+18G>T
|
rs777082272
|
|
|
NM_004456.5(EZH2):c.2029+3_2029+25del
|
|
|
|
NM_004456.5(EZH2):c.2029+4T>C
|
|
|
|
NM_004456.5(EZH2):c.2030-10T>C
|
|
|
|
NM_004456.5(EZH2):c.2030-19C>T
|
|
|
|
NM_004456.5(EZH2):c.2030-20G>A
|
|
|
|
NM_004456.5(EZH2):c.2030-20G>C
|
|
|
|
NM_004456.5(EZH2):c.2030-20_2030-19dup
|
|
|
|
NM_004456.5(EZH2):c.2030-5T>G
|
rs763969852
|
|
|
NM_004456.5(EZH2):c.2034T>C (p.Phe678=)
|
|
|
|
NM_004456.5(EZH2):c.2048C>A (p.Thr683Asn)
|
rs1802412684
|
|
|
NM_004456.5(EZH2):c.2048C>T (p.Thr683Ile)
|
|
|
|
NM_004456.5(EZH2):c.2050C>T (p.Arg684Cys)
|
rs587783626
|
|
|
NM_004456.5(EZH2):c.2051G>A (p.Arg684His)
|
|
|
|
NM_004456.5(EZH2):c.2051G>T (p.Arg684Leu)
|
|
|
|
NM_004456.5(EZH2):c.2058T>G (p.Gly686=)
|
|
|
|
NM_004456.5(EZH2):c.2079T>A (p.Asn693Lys)
|
rs2129467665
|
|
|
NM_004456.5(EZH2):c.2084C>T (p.Ser695Leu)
|
rs2129467664
|
|
|
NM_004456.5(EZH2):c.208A>G (p.Ile70Val)
|
|
|
|
NM_004456.5(EZH2):c.2103T>C (p.Tyr701=)
|
rs921971181
|
|
|
NM_004456.5(EZH2):c.2110+16G>A
|
|
|
|
NM_004456.5(EZH2):c.2110+17T>C
|
|
|
|
NM_004456.5(EZH2):c.2110+8C>T
|
rs748403028
|
|
|
NM_004456.5(EZH2):c.2111-15T>C
|
|
|
|
NM_004456.5(EZH2):c.2111-16GT[2]
|
|
|
|
NM_004456.5(EZH2):c.2111-5T>C
|
|
|
|
NM_004456.5(EZH2):c.2111-6T>C
|
rs1802356752
|
|
|
NM_004456.5(EZH2):c.2111-8C>T
|
|
|
|
NM_004456.5(EZH2):c.2113A>G (p.Met705Val)
|
|
|
|
NM_004456.5(EZH2):c.2130T>C (p.Asp710=)
|
|
|
|
NM_004456.5(EZH2):c.2132A>T (p.His711Leu)
|
rs1584862929
|
|
|
NM_004456.5(EZH2):c.2136G>A (p.Arg712=)
|
rs777523893
|
|
|
NM_004456.5(EZH2):c.2166G>A (p.Gln722=)
|
|
|
|
NM_004456.5(EZH2):c.2173G>A (p.Glu725Lys)
|
|
|
|
NM_004456.5(EZH2):c.2174A>G (p.Glu725Gly)
|
|
|
|
NM_004456.5(EZH2):c.2187T>G (p.Phe729Leu)
|
rs1584862620
|
|
|
NM_004456.5(EZH2):c.2195+4G>A
|
rs1392250326
|
|
|
NM_004456.5(EZH2):c.2195+4G>C
|
rs1392250326
|
|
|
NM_004456.5(EZH2):c.2196-10_2197dup
|
rs1584844589
|
|
|
NM_004456.5(EZH2):c.2196-2A>G
|
rs1584844649
|
|
|
NM_004456.5(EZH2):c.2199C>T (p.Tyr733=)
|
|
|
|
NM_004456.5(EZH2):c.2214C>T (p.Ala738=)
|
|
|
|
NM_004456.5(EZH2):c.2217G>T (p.Leu739=)
|
rs1584844275
|
|
|
NM_004456.5(EZH2):c.2218_2220dup (p.Lys740dup)
|
rs1563181659
|
|
|
NM_004456.5(EZH2):c.2220G>C (p.Lys740Asn)
|
|
|
|
NM_004456.5(EZH2):c.2233G>A (p.Glu745Lys)
|
rs397515548
|
|
|
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.2250C>T (p.Ile750=)
|
|
|
|
NM_004456.5(EZH2):c.233G>A (p.Arg78His)
|
|
|
|
NM_004456.5(EZH2):c.234C>A (p.Arg78=)
|
|
|
|
NM_004456.5(EZH2):c.237G>A (p.Gly79=)
|
|
|
|
NM_004456.5(EZH2):c.239C>T (p.Thr80Ile)
|
|
|
|
NM_004456.5(EZH2):c.241A>G (p.Arg81Gly)
|
|
|
|
NM_004456.5(EZH2):c.246+13_246+17del
|
|
|
|
NM_004456.5(EZH2):c.246+17T>C
|
|
|
|
NM_004456.5(EZH2):c.246+19T>C
|
|
|
|
NM_004456.5(EZH2):c.247-15dup
|
rs557474218
|
|
|
NM_004456.5(EZH2):c.247-18T>C
|
|
|
|
NM_004456.5(EZH2):c.247-20T>C
|
|
|
|
NM_004456.5(EZH2):c.252G>T (p.Ser84=)
|
|
|
|
NM_004456.5(EZH2):c.265T>A (p.Leu89Met)
|
|
|
|
NM_004456.5(EZH2):c.283G>A (p.Val95Ile)
|
rs2129478065
|
|
|
NM_004456.5(EZH2):c.284T>G (p.Val95Gly)
|
|
|
|
NM_004456.5(EZH2):c.285C>A (p.Val95=)
|
|
|
|
NM_004456.5(EZH2):c.285C>T (p.Val95=)
|
|
|
|
NM_004456.5(EZH2):c.300T>C (p.Thr100=)
|
|
|
|
NM_004456.5(EZH2):c.310G>A (p.Val104Ile)
|
|
|
|
NM_004456.5(EZH2):c.318A>T (p.Ser106=)
|
rs1378180485
|
|
|
NM_004456.5(EZH2):c.363+19T>A
|
|
|
|
NM_004456.5(EZH2):c.363+9A>G
|
|
|
|
NM_004456.5(EZH2):c.364-14T>A
|
rs778048238
|
|
|
NM_004456.5(EZH2):c.364-14dup
|
rs750852762
|
|
|
NM_004456.5(EZH2):c.364-15del
|
|
|
|
NM_004456.5(EZH2):c.364-16T>C
|
|
|
|
NM_004456.5(EZH2):c.364-20A>G
|
rs2129477058
|
|
|
NM_004456.5(EZH2):c.364-7C>A
|
|
|
|
NM_004456.5(EZH2):c.364-9T>G
|
|
|
|
NM_004456.5(EZH2):c.364-9_364-8del
|
|
|
|
NM_004456.5(EZH2):c.386A>G (p.His129Arg)
|
rs2129477011
|
|
|
NM_004456.5(EZH2):c.398A>G (p.Tyr133Cys)
|
rs1808822115
|
|
|
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.484+15T>C
|
|
|
|
NM_004456.5(EZH2):c.484+17T>C
|
|
|
|
NM_004456.5(EZH2):c.484+6C>T
|
rs2129476856
|
|
|
NM_004456.5(EZH2):c.484+7C>A
|
|
|
|
NM_004456.5(EZH2):c.484+8A>G
|
|
|
|
NM_004456.5(EZH2):c.485-14T>A
|
|
|
|
NM_004456.5(EZH2):c.485-14T>C
|
|
|
|
NM_004456.5(EZH2):c.485-9G>A
|
|
|
|
NM_004456.5(EZH2):c.492G>A (p.Gly164=)
|
|
|
|
NM_004456.5(EZH2):c.515T>C (p.Val172Ala)
|
|
|
|
NM_004456.5(EZH2):c.51G>A (p.Lys17=)
|
|
|
|
NM_004456.5(EZH2):c.531C>T (p.Ala177=)
|
rs1808497396
|
|
|
NM_004456.5(EZH2):c.535G>A (p.Gly179Ser)
|
|
|
|
NM_004456.5(EZH2):c.536G>C (p.Gly179Ala)
|
|
|
|
NM_004456.5(EZH2):c.53G>A (p.Arg18His)
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NM_004456.5(EZH2):c.540A>G (p.Gln180=)
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NM_004456.5(EZH2):c.546TGA[2] (p.Asp189del)
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rs766699965
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NM_004456.5(EZH2):c.549T>A (p.Asp183Glu)
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NM_004456.5(EZH2):c.557ATG[3] (p.Asp189del)
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rs587778303
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NM_004456.5(EZH2):c.559G>A (p.Asp187Asn)
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rs1322202663
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NM_004456.5(EZH2):c.562G>A (p.Asp188Asn)
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rs1585021829
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NM_004456.5(EZH2):c.563A>C (p.Asp188Ala)
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NM_004456.5(EZH2):c.578C>G (p.Pro193Arg)
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NM_004456.5(EZH2):c.582A>G (p.Glu194=)
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NM_004456.5(EZH2):c.587G>C (p.Arg196Thr)
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rs1051056437
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NM_004456.5(EZH2):c.603A>G (p.Lys201=)
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NM_004456.5(EZH2):c.618C>T (p.His206=)
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rs752660754
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NM_004456.5(EZH2):c.620G>A (p.Arg207Gln)
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NM_004456.5(EZH2):c.625+4T>C
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NM_004456.5(EZH2):c.625+7C>T
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NM_004456.5(EZH2):c.626-14A>G
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NM_004456.5(EZH2):c.626-17C>T
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NM_004456.5(EZH2):c.626-3T>C
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rs775960927
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NM_004456.5(EZH2):c.626-5T>G
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NM_004456.5(EZH2):c.626-6G>T
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NM_004456.5(EZH2):c.626A>T (p.Asp209Val)
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rs1807983236
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NM_004456.5(EZH2):c.641C>T (p.Pro214Leu)
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NM_004456.5(EZH2):c.644C>T (p.Pro215Leu)
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NM_004456.5(EZH2):c.647G>A (p.Arg216Gln)
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NM_004456.5(EZH2):c.709G>A (p.Ala237Thr)
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NM_004456.5(EZH2):c.70A>T (p.Met24Leu)
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NM_004456.5(EZH2):c.714A>G (p.Glu238=)
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NM_004456.5(EZH2):c.71T>C (p.Met24Thr)
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rs2129485374
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NM_004456.5(EZH2):c.720A>T (p.Leu240=)
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NM_004456.5(EZH2):c.729-12G>A
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NM_004456.5(EZH2):c.741C>T (p.Leu247=)
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NM_004456.5(EZH2):c.742A>G (p.Thr248Ala)
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NM_004456.5(EZH2):c.744C>G (p.Thr248=)
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rs541419393
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NM_004456.5(EZH2):c.74G>A (p.Arg25Gln)
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rs2129485373
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NM_004456.5(EZH2):c.754C>T (p.Leu252Phe)
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rs2129475548
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NM_004456.5(EZH2):c.763G>A (p.Ala255Thr)
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NM_004456.5(EZH2):c.764C>T (p.Ala255Val)
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NM_004456.5(EZH2):c.787A>G (p.Asn263Asp)
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NM_004456.5(EZH2):c.78G>A (p.Leu26=)
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NM_004456.5(EZH2):c.811T>C (p.Ser271Pro)
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rs2129475506
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NM_004456.5(EZH2):c.813T>C (p.Ser271=)
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NM_004456.5(EZH2):c.824A>C (p.Glu275Ala)
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NM_004456.5(EZH2):c.87C>T (p.Leu29=)
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rs773579841
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NM_004456.5(EZH2):c.891T>C (p.His297=)
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NM_004456.5(EZH2):c.899G>A (p.Cys300Tyr)
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NM_004456.5(EZH2):c.900C>G (p.Cys300Trp)
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NM_004456.5(EZH2):c.906T>C (p.Tyr302=)
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NM_004456.5(EZH2):c.907+11A>G
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NM_004456.5(EZH2):c.907+18A>G
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NM_004456.5(EZH2):c.907+20C>G
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NM_004456.5(EZH2):c.907+4C>T
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NM_004456.5(EZH2):c.908-10dup
|
rs1354070612
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NM_004456.5(EZH2):c.908-15T>G
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NM_004456.5(EZH2):c.908-21_908-19del
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NM_004456.5(EZH2):c.930T>A (p.Thr310=)
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NM_004456.5(EZH2):c.946A>G (p.Thr316Ala)
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NM_004456.5(EZH2):c.952A>G (p.Thr318Ala)
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NM_004456.5(EZH2):c.954A>T (p.Thr318=)
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NM_004456.5(EZH2):c.956C>T (p.Ala319Val)
|
rs1805459613
|
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NM_004456.5(EZH2):c.963C>G (p.Asp321Glu)
|
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NM_004456.5(EZH2):c.968A>T (p.Lys323Ile)
|
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NM_004456.5(EZH2):c.999+15C>G
|
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NM_004456.5(EZH2):c.999+7C>T
|
rs2129472364
|
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NM_004456.5(EZH2):c.9G>C (p.Gln3His)
|
rs1359374351
|
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