NM_001123385.2(BCOR):c.1260T>C (p.Asp420=)
|
rs5917933
|
0.91469
|
NM_001123385.2(BCOR):c.1692A>G (p.Ala564=)
|
rs6520618
|
0.34271
|
NM_001123385.2(BCOR):c.4977-4G>T
|
rs5963725
|
0.16998
|
NM_001123385.2(BCOR):c.1791C>T (p.His597=)
|
rs144606152
|
0.03194
|
NM_001123385.2(BCOR):c.1650C>T (p.Thr550=)
|
rs17145653
|
0.00806
|
NM_001123385.2(BCOR):c.408C>T (p.Ala136=)
|
rs139802143
|
0.00258
|
NM_001123385.2(BCOR):c.4680G>A (p.Thr1560=)
|
rs146007249
|
0.00140
|
NM_001123385.2(BCOR):c.3413T>C (p.Val1138Ala)
|
rs145327925
|
0.00090
|
NM_001123385.2(BCOR):c.2514C>A (p.Pro838=)
|
rs147497014
|
0.00082
|
NM_001123385.2(BCOR):c.4488A>C (p.Ala1496=)
|
rs138741225
|
0.00076
|
NM_001123385.2(BCOR):c.626C>T (p.Ser209Leu)
|
rs143697110
|
0.00072
|
NM_001123385.2(BCOR):c.5037A>T (p.Ile1679=)
|
rs113588421
|
0.00064
|
NM_001123385.2(BCOR):c.3802A>G (p.Arg1268Gly)
|
rs140897453
|
0.00058
|
NM_001123385.2(BCOR):c.223A>T (p.Thr75Ser)
|
rs61744882
|
0.00055
|
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile)
|
rs144722432
|
0.00053
|
NM_001123385.2(BCOR):c.978G>A (p.Pro326=)
|
rs751650335
|
0.00047
|
NM_001123385.2(BCOR):c.4724T>C (p.Met1575Thr)
|
rs142595337
|
0.00043
|
NM_001123385.2(BCOR):c.409G>A (p.Val137Ile)
|
rs146403660
|
0.00042
|
NM_001123385.2(BCOR):c.482C>T (p.Ala161Val)
|
rs142236686
|
0.00038
|
NM_001123385.2(BCOR):c.242G>A (p.Gly81Glu)
|
rs144450053
|
0.00037
|
NM_001123385.2(BCOR):c.946C>T (p.Pro316Ser)
|
rs200052076
|
0.00034
|
NM_001123385.2(BCOR):c.2525T>C (p.Val842Ala)
|
rs143119333
|
0.00032
|
NM_001123385.2(BCOR):c.5190G>A (p.Thr1730=)
|
rs375139386
|
0.00032
|
NM_001123385.2(BCOR):c.3378C>T (p.His1126=)
|
rs137923016
|
0.00030
|
NM_001123385.2(BCOR):c.3974A>G (p.Lys1325Arg)
|
rs187172641
|
0.00027
|
NM_001123385.2(BCOR):c.906C>T (p.His302=)
|
rs145004764
|
0.00026
|
NM_001123385.2(BCOR):c.4383C>T (p.Asn1461=)
|
rs189731022
|
0.00023
|
NM_001123385.2(BCOR):c.2148C>T (p.Tyr716=)
|
rs146426767
|
0.00017
|
NM_001123385.2(BCOR):c.3502+19G>A
|
rs376361422
|
0.00016
|
NM_001123385.2(BCOR):c.3669G>A (p.Ser1223=)
|
rs372032523
|
0.00016
|
NM_001123385.2(BCOR):c.3226G>A (p.Glu1076Lys)
|
rs202065982
|
0.00015
|
NM_001123385.2(BCOR):c.4765C>T (p.Arg1589Cys)
|
rs754643148
|
0.00015
|
NM_001123385.2(BCOR):c.2124C>T (p.Thr708=)
|
rs749386912
|
0.00014
|
NM_001123385.2(BCOR):c.2916C>T (p.Tyr972=)
|
rs370067698
|
0.00014
|
NM_001123385.2(BCOR):c.3277G>A (p.Glu1093Lys)
|
rs144736705
|
0.00013
|
NM_001123385.2(BCOR):c.519C>T (p.Ser173=)
|
rs138917640
|
0.00013
|
NM_001123385.2(BCOR):c.5001G>A (p.Ser1667=)
|
rs375878497
|
0.00012
|
NM_001123385.2(BCOR):c.5058C>T (p.Asn1686=)
|
rs369322807
|
0.00012
|
NM_001123385.2(BCOR):c.3446C>T (p.Ala1149Val)
|
rs368780561
|
0.00011
|
NM_001123385.2(BCOR):c.4320T>C (p.Pro1440=)
|
rs753786462
|
0.00011
|
NM_001123385.2(BCOR):c.1242G>A (p.Ala414=)
|
rs146423227
|
0.00010
|
NM_001123385.2(BCOR):c.1264A>G (p.Ser422Gly)
|
rs202240562
|
0.00010
|
NM_001123385.2(BCOR):c.1669G>A (p.Val557Ile)
|
rs201939220
|
0.00010
|
NM_001123385.2(BCOR):c.759C>T (p.Val253=)
|
rs373674220
|
0.00010
|
NM_001123385.2(BCOR):c.837C>T (p.Leu279=)
|
rs753531268
|
0.00010
|
NM_001123385.2(BCOR):c.2032C>T (p.Pro678Ser)
|
rs145560179
|
0.00009
|
NM_001123385.2(BCOR):c.3366G>A (p.Ser1122=)
|
rs374359497
|
0.00009
|
NM_001123385.2(BCOR):c.4203G>A (p.Pro1401=)
|
rs376940750
|
0.00009
|
NM_001123385.2(BCOR):c.4305A>G (p.Pro1435=)
|
rs144653977
|
0.00009
|
NM_001123385.2(BCOR):c.4766G>A (p.Arg1589His)
|
rs367859441
|
0.00009
|
NM_001123385.2(BCOR):c.4931C>T (p.Thr1644Ile)
|
rs780610123
|
0.00009
|
NM_001123385.2(BCOR):c.1448C>T (p.Pro483Leu)
|
rs587778096
|
0.00008
|
NM_001123385.2(BCOR):c.2633T>C (p.Val878Ala)
|
rs759983308
|
0.00008
|
NM_001123385.2(BCOR):c.4174-20G>A
|
rs374547123
|
0.00008
|
NM_001123385.2(BCOR):c.5193C>T (p.Asn1731=)
|
rs766578072
|
0.00008
|
NM_001123385.2(BCOR):c.739C>T (p.Leu247=)
|
rs139023119
|
0.00008
|
NM_001123385.2(BCOR):c.188G>A (p.Arg63Lys)
|
rs751977474
|
0.00007
|
NM_001123385.2(BCOR):c.2129G>A (p.Arg710His)
|
rs200732803
|
0.00007
|
NM_001123385.2(BCOR):c.2690C>T (p.Ser897Leu)
|
rs147251146
|
0.00007
|
NM_001123385.2(BCOR):c.3872C>T (p.Pro1291Leu)
|
rs371205644
|
0.00007
|
NM_001123385.2(BCOR):c.3036C>T (p.Pro1012=)
|
rs190344757
|
0.00006
|
NM_001123385.2(BCOR):c.3491G>A (p.Arg1164Gln)
|
rs769057299
|
0.00006
|
NM_001123385.2(BCOR):c.3848-10C>T
|
rs765267478
|
0.00006
|
NM_001123385.2(BCOR):c.4014A>C (p.Glu1338Asp)
|
rs142866108
|
0.00006
|
NM_001123385.2(BCOR):c.4890C>T (p.Asp1630=)
|
rs750330961
|
0.00006
|
NM_001123385.2(BCOR):c.4960G>C (p.Val1654Leu)
|
rs138012019
|
0.00006
|
NM_001123385.2(BCOR):c.711C>T (p.Val237=)
|
rs727503827
|
0.00006
|
NM_001123385.2(BCOR):c.1620G>A (p.Arg540=)
|
rs144347073
|
0.00005
|
NM_001123385.2(BCOR):c.1780G>A (p.Val594Ile)
|
rs764515953
|
0.00005
|
NM_001123385.2(BCOR):c.2910G>A (p.Ala970=)
|
rs138137552
|
0.00005
|
NM_001123385.2(BCOR):c.2954A>T (p.Tyr985Phe)
|
rs587778093
|
0.00005
|
NM_001123385.2(BCOR):c.3711G>A (p.Val1237=)
|
rs753256966
|
0.00005
|
NM_001123385.2(BCOR):c.3951G>A (p.Pro1317=)
|
rs972573105
|
0.00005
|
NM_001123385.2(BCOR):c.4008C>T (p.Asp1336=)
|
rs373762694
|
0.00005
|
NM_001123385.2(BCOR):c.4013A>G (p.Glu1338Gly)
|
rs770784599
|
0.00005
|
NM_001123385.2(BCOR):c.4152C>T (p.Tyr1384=)
|
rs750973796
|
0.00005
|
NM_001123385.2(BCOR):c.4258G>A (p.Asp1420Asn)
|
rs886042813
|
0.00005
|
NM_001123385.2(BCOR):c.438T>A (p.Ser146Arg)
|
rs902578908
|
0.00005
|
NM_001123385.2(BCOR):c.455C>T (p.Pro152Leu)
|
rs375342424
|
0.00005
|
NM_001123385.2(BCOR):c.864G>A (p.Pro288=)
|
rs1409344460
|
0.00005
|
NM_001123385.2(BCOR):c.1155G>A (p.Ala385=)
|
rs398124311
|
0.00004
|
NM_001123385.2(BCOR):c.1391C>T (p.Thr464Met)
|
rs749999323
|
0.00004
|
NM_001123385.2(BCOR):c.1708G>A (p.Ala570Thr)
|
rs748813798
|
0.00004
|
NM_001123385.2(BCOR):c.179C>T (p.Thr60Met)
|
rs202121665
|
0.00004
|
NM_001123385.2(BCOR):c.2008C>T (p.Pro670Ser)
|
rs148886271
|
0.00004
|
NM_001123385.2(BCOR):c.3052-14C>T
|
rs373005644
|
0.00004
|
NM_001123385.2(BCOR):c.347C>T (p.Ser116Leu)
|
rs775994643
|
0.00004
|
NM_001123385.2(BCOR):c.3813G>A (p.Ser1271=)
|
rs746505412
|
0.00004
|
NM_001123385.2(BCOR):c.4202C>T (p.Pro1401Leu)
|
rs201959477
|
0.00004
|
NM_001123385.2(BCOR):c.453A>G (p.Thr151=)
|
rs1450768568
|
0.00004
|
NM_001123385.2(BCOR):c.4581C>T (p.Ala1527=)
|
rs758631631
|
0.00004
|
NM_001123385.2(BCOR):c.4599T>C (p.Pro1533=)
|
rs189304389
|
0.00004
|
NM_001123385.2(BCOR):c.599C>T (p.Thr200Met)
|
rs777945715
|
0.00004
|
NM_001123385.2(BCOR):c.1293C>G (p.Thr431=)
|
rs759584655
|
0.00003
|
NM_001123385.2(BCOR):c.1381A>G (p.Met461Val)
|
rs746591131
|
0.00003
|
NM_001123385.2(BCOR):c.1651G>A (p.Asp551Asn)
|
rs372463512
|
0.00003
|
NM_001123385.2(BCOR):c.1668C>T (p.Asn556=)
|
rs765752304
|
0.00003
|
NM_001123385.2(BCOR):c.2014T>G (p.Ser672Ala)
|
rs372910732
|
0.00003
|
NM_001123385.2(BCOR):c.2213C>T (p.Thr738Ile)
|
rs767346654
|
0.00003
|
NM_001123385.2(BCOR):c.2512C>T (p.Pro838Ser)
|
rs148571491
|
0.00003
|
NM_001123385.2(BCOR):c.2769A>G (p.Pro923=)
|
rs371210264
|
0.00003
|
NM_001123385.2(BCOR):c.3266G>A (p.Arg1089His)
|
rs772117755
|
0.00003
|
NM_001123385.2(BCOR):c.3691C>T (p.Arg1231Trp)
|
rs147934033
|
0.00003
|
NM_001123385.2(BCOR):c.3831C>T (p.Pro1277=)
|
rs775358295
|
0.00003
|
NM_001123385.2(BCOR):c.4053C>T (p.Thr1351=)
|
rs781252900
|
0.00003
|
NM_001123385.2(BCOR):c.4679C>T (p.Thr1560Met)
|
rs762705967
|
0.00003
|
NM_001123385.2(BCOR):c.4902C>T (p.Ser1634=)
|
rs747409134
|
0.00003
|
NM_001123385.2(BCOR):c.4944G>A (p.Pro1648=)
|
rs1479323402
|
0.00003
|
NM_001123385.2(BCOR):c.696G>A (p.Pro232=)
|
rs752884103
|
0.00003
|
NM_001123385.2(BCOR):c.874G>T (p.Gly292Cys)
|
rs774040250
|
0.00003
|
NM_001123385.2(BCOR):c.947C>A (p.Pro316His)
|
rs747499705
|
0.00003
|
NM_001123385.2(BCOR):c.1016C>T (p.Pro339Leu)
|
rs587778095
|
0.00002
|
NM_001123385.2(BCOR):c.1045C>T (p.Pro349Ser)
|
rs1200115655
|
0.00002
|
NM_001123385.2(BCOR):c.1064C>T (p.Ser355Leu)
|
rs747038834
|
0.00002
|
NM_001123385.2(BCOR):c.1078C>T (p.His360Tyr)
|
rs1313448533
|
0.00002
|
NM_001123385.2(BCOR):c.1153G>A (p.Ala385Thr)
|
rs1373208021
|
0.00002
|
NM_001123385.2(BCOR):c.1287G>A (p.Lys429=)
|
rs775664343
|
0.00002
|
NM_001123385.2(BCOR):c.1578G>A (p.Ser526=)
|
rs770926725
|
0.00002
|
NM_001123385.2(BCOR):c.1601G>C (p.Trp534Ser)
|
rs1407822292
|
0.00002
|
NM_001123385.2(BCOR):c.221G>A (p.Arg74His)
|
rs1434826738
|
0.00002
|
NM_001123385.2(BCOR):c.2789C>G (p.Pro930Arg)
|
rs753661121
|
0.00002
|
NM_001123385.2(BCOR):c.2898C>T (p.Ile966=)
|
rs775251964
|
0.00002
|
NM_001123385.2(BCOR):c.3339C>T (p.Ser1113=)
|
rs1226506629
|
0.00002
|
NM_001123385.2(BCOR):c.3692G>A (p.Arg1231Gln)
|
rs773204535
|
0.00002
|
NM_001123385.2(BCOR):c.3950C>T (p.Pro1317Leu)
|
rs780412607
|
0.00002
|
NM_001123385.2(BCOR):c.4319C>T (p.Pro1440Leu)
|
rs1033092772
|
0.00002
|
NM_001123385.2(BCOR):c.4620C>T (p.Asn1540=)
|
rs370429826
|
0.00002
|
NM_001123385.2(BCOR):c.5042G>A (p.Arg1681His)
|
rs372913827
|
0.00002
|
NM_001123385.2(BCOR):c.520G>A (p.Asp174Asn)
|
rs933611569
|
0.00002
|
NM_001123385.2(BCOR):c.5234A>C (p.His1745Pro)
|
rs587778100
|
0.00002
|
NM_001123385.2(BCOR):c.651G>A (p.Met217Ile)
|
rs368939471
|
0.00002
|
NM_001123385.2(BCOR):c.863C>T (p.Pro288Leu)
|
rs200417267
|
0.00002
|
NM_001123385.2(BCOR):c.954C>T (p.Ala318=)
|
rs1341463104
|
0.00002
|
NM_001123385.2(BCOR):c.981G>A (p.Gly327=)
|
rs1285291048
|
0.00002
|
NM_001123385.2(BCOR):c.1523C>T (p.Ser508Phe)
|
rs773646449
|
0.00001
|
NM_001123385.2(BCOR):c.1707C>T (p.Ser569=)
|
rs1438078198
|
0.00001
|
NM_001123385.2(BCOR):c.1848C>T (p.Gly616=)
|
rs758579970
|
0.00001
|
NM_001123385.2(BCOR):c.1910C>G (p.Ser637Cys)
|
rs148052848
|
0.00001
|
NM_001123385.2(BCOR):c.1981C>G (p.Pro661Ala)
|
rs749370134
|
0.00001
|
NM_001123385.2(BCOR):c.2166G>C (p.Leu722Phe)
|
rs1041380012
|
0.00001
|
NM_001123385.2(BCOR):c.2203A>G (p.Ile735Val)
|
rs768557634
|
0.00001
|
NM_001123385.2(BCOR):c.2343C>T (p.Thr781=)
|
rs754818592
|
0.00001
|
NM_001123385.2(BCOR):c.235C>T (p.Arg79Trp)
|
rs1462787258
|
0.00001
|
NM_001123385.2(BCOR):c.2519C>T (p.Pro840Leu)
|
rs904253464
|
0.00001
|
NM_001123385.2(BCOR):c.2520C>G (p.Pro840=)
|
rs781016038
|
0.00001
|
NM_001123385.2(BCOR):c.254C>T (p.Pro85Leu)
|
rs121434618
|
0.00001
|
NM_001123385.2(BCOR):c.2560G>A (p.Ala854Thr)
|
rs527732438
|
0.00001
|
NM_001123385.2(BCOR):c.267C>G (p.Val89=)
|
rs371808275
|
0.00001
|
NM_001123385.2(BCOR):c.2877A>G (p.Pro959=)
|
rs763853464
|
0.00001
|
NM_001123385.2(BCOR):c.3092G>A (p.Arg1031Lys)
|
rs755537147
|
0.00001
|
NM_001123385.2(BCOR):c.3291C>A (p.Asp1097Glu)
|
rs1935101181
|
0.00001
|
NM_001123385.2(BCOR):c.3349G>A (p.Ala1117Thr)
|
rs374493655
|
0.00001
|
NM_001123385.2(BCOR):c.3410A>G (p.Lys1137Arg)
|
rs758078994
|
0.00001
|
NM_001123385.2(BCOR):c.3512C>T (p.Pro1171Leu)
|
rs1474217458
|
0.00001
|
NM_001123385.2(BCOR):c.3847+17C>T
|
rs749560832
|
0.00001
|
NM_001123385.2(BCOR):c.3987G>C (p.Lys1329Asn)
|
rs752258567
|
0.00001
|
NM_001123385.2(BCOR):c.4485C>T (p.Asn1495=)
|
rs754796420
|
0.00001
|
NM_001123385.2(BCOR):c.479T>C (p.Val160Ala)
|
rs1459702445
|
0.00001
|
NM_001123385.2(BCOR):c.4824A>C (p.Pro1608=)
|
rs760093247
|
0.00001
|
NM_001123385.2(BCOR):c.4858C>G (p.Pro1620Ala)
|
rs759345634
|
0.00001
|
NM_001123385.2(BCOR):c.4903G>A (p.Asp1635Asn)
|
rs367883774
|
0.00001
|
NM_001123385.2(BCOR):c.578A>G (p.Asn193Ser)
|
rs1259098035
|
0.00001
|
NM_001123385.2(BCOR):c.699G>A (p.Leu233=)
|
rs1480517613
|
0.00001
|
NM_001123385.2(BCOR):c.779C>G (p.Ser260Cys)
|
rs1469848579
|
0.00001
|
NC_000023.10:g.(?_39911356)_(40465012_?)dup
|
|
|
NC_000023.10:g.(?_39916388)_(39937202_?)del
|
|
|
NC_000023.10:g.(?_39921372)_(39923872_?)del
|
|
|
NC_000023.11:g.(40012195_40051245)_(40063072_40063607)del
|
|
|
NC_000023.11:g.(?_40051246)_(40075180_?)del
|
|
|
NC_000023.11:g.(?_40052089)_(40077949_?)del
|
|
|
NC_000023.11:g.(?_40052108)_(40077930_?)del
|
|
|
NC_000023.11:g.(?_40057155)_(40077969_?)del
|
|
|
NC_000023.11:g.(?_40070953)_(40077949_?)dup
|
|
|
NG_008880.1:g.(5324_84863)_?del
|
|
|
NM_001123385.2(BCOR):c.1024C>G (p.Arg342Gly)
|
|
|
NM_001123385.2(BCOR):c.1034T>A (p.Leu345His)
|
|
|
NM_001123385.2(BCOR):c.111C>T (p.Asp37=)
|
|
|
NM_001123385.2(BCOR):c.112G>A (p.Ala38Thr)
|
|
|
NM_001123385.2(BCOR):c.1231C>T (p.Arg411Trp)
|
|
|
NM_001123385.2(BCOR):c.1232G>A (p.Arg411Gln)
|
rs754579483
|
|
NM_001123385.2(BCOR):c.1233del (p.Lys412fs)
|
|
|
NM_001123385.2(BCOR):c.1257A>G (p.Lys419=)
|
rs531585800
|
|
NM_001123385.2(BCOR):c.1260T>A (p.Asp420Glu)
|
|
|
NM_001123385.2(BCOR):c.1260_1261inv (p.Gly421Ser)
|
|
|
NM_001123385.2(BCOR):c.1306G>A (p.Val436Ile)
|
|
|
NM_001123385.2(BCOR):c.1321C>T (p.Leu441=)
|
|
|
NM_001123385.2(BCOR):c.1411G>C (p.Ala471Pro)
|
rs2147243708
|
|
NM_001123385.2(BCOR):c.1449G>A (p.Pro483=)
|
|
|
NM_001123385.2(BCOR):c.1526G>A (p.Trp509Ter)
|
|
|
NM_001123385.2(BCOR):c.1529dup (p.Val511fs)
|
rs2147241441
|
|
NM_001123385.2(BCOR):c.1557G>C (p.Glu519Asp)
|
|
|
NM_001123385.2(BCOR):c.1575G>A (p.Met525Ile)
|
rs1602152534
|
|
NM_001123385.2(BCOR):c.1696C>T (p.Arg566Cys)
|
rs1935607481
|
|
NM_001123385.2(BCOR):c.1723A>G (p.Asn575Asp)
|
rs1602151728
|
|
NM_001123385.2(BCOR):c.176G>A (p.Ser59Asn)
|
rs1197348343
|
|
NM_001123385.2(BCOR):c.1779C>A (p.Ser593=)
|
rs17145652
|
|
NM_001123385.2(BCOR):c.184C>T (p.His62Tyr)
|
|
|
NM_001123385.2(BCOR):c.1862A>G (p.Asn621Ser)
|
|
|
NM_001123385.2(BCOR):c.1901C>A (p.Pro634Gln)
|
|
|
NM_001123385.2(BCOR):c.1902A>G (p.Pro634=)
|
rs963000229
|
|
NM_001123385.2(BCOR):c.1908C>G (p.Ser636Arg)
|
|
|
NM_001123385.2(BCOR):c.1912A>G (p.Ile638Val)
|
|
|
NM_001123385.2(BCOR):c.1987C>A (p.Pro663Thr)
|
|
|
NM_001123385.2(BCOR):c.206C>T (p.Ala69Val)
|
|
|
NM_001123385.2(BCOR):c.2091C>G (p.Ala697=)
|
|
|
NM_001123385.2(BCOR):c.2172G>T (p.Met724Ile)
|
|
|
NM_001123385.2(BCOR):c.2199G>T (p.Thr733=)
|
rs140693978
|
|
NM_001123385.2(BCOR):c.2235G>A (p.Arg745=)
|
|
|
NM_001123385.2(BCOR):c.2265C>T (p.Tyr755=)
|
|
|
NM_001123385.2(BCOR):c.2288G>T (p.Arg763Leu)
|
rs139011455
|
|
NM_001123385.2(BCOR):c.2351A>T (p.Asn784Ile)
|
|
|
NM_001123385.2(BCOR):c.2389_2390del (p.Val797fs)
|
rs2147215369
|
|
NM_001123385.2(BCOR):c.2396A>G (p.Lys799Arg)
|
|
|
NM_001123385.2(BCOR):c.2409T>A (p.Leu803=)
|
rs909983948
|
|
NM_001123385.2(BCOR):c.2419G>C (p.Asp807His)
|
rs1555918075
|
|
NM_001123385.2(BCOR):c.2421C>A (p.Asp807Glu)
|
|
|
NM_001123385.2(BCOR):c.2423_2424delinsAC (p.Leu808His)
|
rs1569155643
|
|
NM_001123385.2(BCOR):c.2449del (p.Thr817fs)
|
rs1602148660
|
|
NM_001123385.2(BCOR):c.2460C>T (p.Asn820=)
|
|
|
NM_001123385.2(BCOR):c.2461G>A (p.Val821Met)
|
|
|
NM_001123385.2(BCOR):c.2488_2489del (p.Ser830fs)
|
rs1555918014
|
|
NM_001123385.2(BCOR):c.2500A>G (p.Ser834Gly)
|
|
|
NM_001123385.2(BCOR):c.2506G>A (p.Glu836Lys)
|
|
|
NM_001123385.2(BCOR):c.2514del (p.Lys839fs)
|
rs1394942244
|
|
NM_001123385.2(BCOR):c.2600A>G (p.Glu867Gly)
|
rs2147207207
|
|
NM_001123385.2(BCOR):c.2607T>C (p.Tyr869=)
|
|
|
NM_001123385.2(BCOR):c.2613del (p.Phe871fs)
|
rs730880013
|
|
NM_001123385.2(BCOR):c.2617C>T (p.Gln873Ter)
|
rs2147206769
|
|
NM_001123385.2(BCOR):c.2647G>A (p.Val883Ile)
|
rs909942650
|
|
NM_001123385.2(BCOR):c.2650C>T (p.Leu884=)
|
rs1442932290
|
|
NM_001123385.2(BCOR):c.2655_2660del (p.Gly886_Thr887del)
|
rs2147205508
|
|
NM_001123385.2(BCOR):c.2664C>A (p.Asn888Lys)
|
rs1935534815
|
|
NM_001123385.2(BCOR):c.2691G>A (p.Ser897=)
|
|
|
NM_001123385.2(BCOR):c.2691G>C (p.Ser897=)
|
rs3810693
|
|
NM_001123385.2(BCOR):c.2691G>T (p.Ser897=)
|
|
|
NM_001123385.2(BCOR):c.2694T>G (p.Thr898=)
|
rs2147204732
|
|
NM_001123385.2(BCOR):c.2722G>A (p.Asp908Asn)
|
rs542522950
|
|
NM_001123385.2(BCOR):c.2815T>C (p.Tyr939His)
|
rs2147202440
|
|
NM_001123385.2(BCOR):c.2858_2859del (p.Lys953fs)
|
rs1602147278
|
|
NM_001123385.2(BCOR):c.285A>G (p.Gly95=)
|
rs143135906
|
|
NM_001123385.2(BCOR):c.2917G>A (p.Val973Met)
|
|
|
NM_001123385.2(BCOR):c.2926C>T (p.Arg976Ter)
|
rs121434619
|
|
NM_001123385.2(BCOR):c.2983C>T (p.Gln995Ter)
|
|
|
NM_001123385.2(BCOR):c.2997+12del
|
|
|
NM_001123385.2(BCOR):c.2997+12dup
|
|
|
NM_001123385.2(BCOR):c.300A>G (p.Lys100=)
|
rs775494265
|
|
NM_001123385.2(BCOR):c.3052-13G>A
|
|
|
NM_001123385.2(BCOR):c.3053G>C (p.Arg1018Pro)
|
|
|
NM_001123385.2(BCOR):c.3090_3091del (p.Glu1032fs)
|
|
|
NM_001123385.2(BCOR):c.3090_3093del (p.Arg1031fs)
|
rs2147176806
|
|
NM_001123385.2(BCOR):c.3119A>T (p.Asp1040Val)
|
|
|
NM_001123385.2(BCOR):c.3153G>A (p.Trp1051Ter)
|
|
|
NM_001123385.2(BCOR):c.3165_3166delinsC (p.Lys1055fs)
|
|
|
NM_001123385.2(BCOR):c.3187_3188dup (p.Val1065fs)
|
|
|
NM_001123385.2(BCOR):c.3225C>T (p.Asn1075=)
|
|
|
NM_001123385.2(BCOR):c.3226del (p.Glu1076fs)
|
rs2147172268
|
|
NM_001123385.2(BCOR):c.3239-6C>T
|
|
|
NM_001123385.2(BCOR):c.3244dup (p.Tyr1082fs)
|
rs1602131405
|
|
NM_001123385.2(BCOR):c.3246T>C (p.Tyr1082=)
|
|
|
NM_001123385.2(BCOR):c.3268del (p.Asp1090fs)
|
rs1555915854
|
|
NM_001123385.2(BCOR):c.3286del (p.Glu1096fs)
|
rs1602131169
|
|
NM_001123385.2(BCOR):c.3305T>C (p.Val1102Ala)
|
rs111622737
|
|
NM_001123385.2(BCOR):c.3305T>G (p.Val1102Gly)
|
rs111622737
|
|
NM_001123385.2(BCOR):c.3331C>G (p.Pro1111Ala)
|
|
|
NM_001123385.2(BCOR):c.3340G>A (p.Glu1114Lys)
|
|
|
NM_001123385.2(BCOR):c.3340G>C (p.Glu1114Gln)
|
rs757991049
|
|
NM_001123385.2(BCOR):c.3346C>T (p.Pro1116Ser)
|
|
|
NM_001123385.2(BCOR):c.3355C>T (p.Gln1119Ter)
|
|
|
NM_001123385.2(BCOR):c.3386C>T (p.Thr1129Ile)
|
|
|
NM_001123385.2(BCOR):c.3388dup (p.Leu1130fs)
|
rs1555915785
|
|
NM_001123385.2(BCOR):c.3392G>A (p.Arg1131Gln)
|
rs758883383
|
|
NM_001123385.2(BCOR):c.3392G>T (p.Arg1131Leu)
|
rs758883383
|
|
NM_001123385.2(BCOR):c.3404_3422del (p.Lys1135fs)
|
rs2147077488
|
|
NM_001123385.2(BCOR):c.3407G>A (p.Arg1136His)
|
|
|
NM_001123385.2(BCOR):c.3410_3411del (p.Lys1137fs)
|
rs1555915763
|
|
NM_001123385.2(BCOR):c.3437_3445del (p.Glu1146_Thr1148del)
|
rs1555915744
|
|
NM_001123385.2(BCOR):c.3450G>A (p.Glu1150=)
|
|
|
NM_001123385.2(BCOR):c.3463del (p.Asp1155fs)
|
rs1602130230
|
|
NM_001123385.2(BCOR):c.3467C>G (p.Pro1156Arg)
|
rs1935083156
|
|
NM_001123385.2(BCOR):c.3467del (p.Pro1156fs)
|
rs1602130188
|
|
NM_001123385.2(BCOR):c.3487C>T (p.Arg1163Ter)
|
rs1935081157
|
|
NM_001123385.2(BCOR):c.3633G>A (p.Leu1211=)
|
|
|
NM_001123385.2(BCOR):c.3635_3638dup (p.Leu1214fs)
|
|
|
NM_001123385.2(BCOR):c.3648_3656del (p.Arg1217_Glu1219del)
|
|
|
NM_001123385.2(BCOR):c.3648_3933del286insGCT (p.Arg1217fs)
|
|
|
NM_001123385.2(BCOR):c.3649C>T (p.Arg1217Ter)
|
rs1935034055
|
|
NM_001123385.2(BCOR):c.3693G>T (p.Arg1231=)
|
rs2147054803
|
|
NM_001123385.2(BCOR):c.3747G>C (p.Gly1249=)
|
|
|
NM_001123385.2(BCOR):c.3758C>T (p.Thr1253Ile)
|
|
|
NM_001123385.2(BCOR):c.3784G>T (p.Ala1262Ser)
|
|
|
NM_001123385.2(BCOR):c.37A>G (p.Ser13Gly)
|
rs1935888587
|
|
NM_001123385.2(BCOR):c.3829C>G (p.Pro1277Ala)
|
|
|
NM_001123385.2(BCOR):c.3834T>C (p.Ser1278=)
|
|
|
NM_001123385.2(BCOR):c.383C>T (p.Thr128Ile)
|
|
|
NM_001123385.2(BCOR):c.3847+7G>A
|
rs142686469
|
|
NM_001123385.2(BCOR):c.3847+7G>C
|
rs142686469
|
|
NM_001123385.2(BCOR):c.3848-20G>A
|
|
|
NM_001123385.2(BCOR):c.3848-35T>C
|
rs3810694
|
|
NM_001123385.2(BCOR):c.3871C>T (p.Pro1291Ser)
|
rs1934982126
|
|
NM_001123385.2(BCOR):c.387C>A (p.Pro129=)
|
|
|
NM_001123385.2(BCOR):c.387C>G (p.Pro129=)
|
rs769854762
|
|
NM_001123385.2(BCOR):c.3888_3889del (p.Ser1297fs)
|
|
|
NM_001123385.2(BCOR):c.3893C>T (p.Ser1298Phe)
|
|
|
NM_001123385.2(BCOR):c.3897C>A (p.Thr1299=)
|
|
|
NM_001123385.2(BCOR):c.3917A>T (p.Gln1306Leu)
|
|
|
NM_001123385.2(BCOR):c.3936A>G (p.Ala1312=)
|
|
|
NM_001123385.2(BCOR):c.3948G>C (p.Arg1316Ser)
|
|
|
NM_001123385.2(BCOR):c.3978A>G (p.Glu1326=)
|
|
|
NM_001123385.2(BCOR):c.3983del (p.Gln1328fs)
|
rs1602124517
|
|
NM_001123385.2(BCOR):c.4009G>A (p.Glu1337Lys)
|
|
|
NM_001123385.2(BCOR):c.404C>G (p.Ser135Cys)
|
|
|
NM_001123385.2(BCOR):c.4076G>T (p.Gly1359Val)
|
rs2147031295
|
|
NM_001123385.2(BCOR):c.4095C>G (p.Thr1365=)
|
|
|
NM_001123385.2(BCOR):c.4111C>T (p.Gln1371Ter)
|
rs863224850
|
|
NM_001123385.2(BCOR):c.4123C>T (p.Arg1375Trp)
|
|
|
NM_001123385.2(BCOR):c.4140_4141del (p.Glu1382fs)
|
|
|
NM_001123385.2(BCOR):c.4165G>A (p.Asp1389Asn)
|
|
|
NM_001123385.2(BCOR):c.4173+13C>A
|
rs2147028349
|
|
NM_001123385.2(BCOR):c.4173+8T>C
|
|
|
NM_001123385.2(BCOR):c.4174-1G>T
|
rs1569146193
|
|
NM_001123385.2(BCOR):c.4218C>T (p.Asp1406=)
|
rs2147014917
|
|
NM_001123385.2(BCOR):c.4240C>G (p.Gln1414Glu)
|
rs1602122136
|
|
NM_001123385.2(BCOR):c.4262G>A (p.Arg1421His)
|
|
|
NM_001123385.2(BCOR):c.4281A>T (p.Pro1427=)
|
|
|
NM_001123385.2(BCOR):c.4304_4308del (p.Pro1435fs)
|
rs730880034
|
|
NM_001123385.2(BCOR):c.4327A>G (p.Thr1443Ala)
|
|
|
NM_001123385.2(BCOR):c.4328_4329del (p.Thr1443fs)
|
rs2147004911
|
|
NM_001123385.2(BCOR):c.4406_4412del (p.Arg1469fs)
|
|
|
NM_001123385.2(BCOR):c.4413C>G (p.Ala1471=)
|
rs1602121380
|
|
NM_001123385.2(BCOR):c.4428+16C>T
|
rs753776453
|
|
NM_001123385.2(BCOR):c.442A>G (p.Ile148Val)
|
|
|
NM_001123385.2(BCOR):c.4497C>A (p.Cys1499Ter)
|
rs766620661
|
|
NM_001123385.2(BCOR):c.4533C>T (p.Asn1511=)
|
|
|
NM_001123385.2(BCOR):c.4540C>T (p.Arg1514Ter)
|
rs199676230
|
|
NM_001123385.2(BCOR):c.4550T>C (p.Leu1517Pro)
|
rs765759611
|
|
NM_001123385.2(BCOR):c.4551del (p.Glu1518fs)
|
rs2146922561
|
|
NM_001123385.2(BCOR):c.4560C>G (p.Gly1520=)
|
rs375830184
|
|
NM_001123385.2(BCOR):c.4560C>T (p.Gly1520=)
|
|
|
NM_001123385.2(BCOR):c.456G>A (p.Pro152=)
|
|
|
NM_001123385.2(BCOR):c.4578T>C (p.Ser1526=)
|
|
|
NM_001123385.2(BCOR):c.4595+9T>G
|
|
|
NM_001123385.2(BCOR):c.4596-10C>G
|
|
|
NM_001123385.2(BCOR):c.4644A>G (p.Leu1548=)
|
|
|
NM_001123385.2(BCOR):c.4711del (p.His1571fs)
|
rs1934541230
|
|
NM_001123385.2(BCOR):c.4741+8A>G
|
|
|
NM_001123385.2(BCOR):c.4742-141_4977-665del
|
|
|
NM_001123385.2(BCOR):c.4742-2A>G
|
|
|
NM_001123385.2(BCOR):c.4760A>G (p.Gln1587Arg)
|
|
|
NM_001123385.2(BCOR):c.4770TGA[2] (p.Asp1593del)
|
rs2146871024
|
|
NM_001123385.2(BCOR):c.4799dup (p.Tyr1601fs)
|
|
|
NM_001123385.2(BCOR):c.4936dup (p.Leu1646fs)
|
rs748074364
|
|
NM_001123385.2(BCOR):c.493G>C (p.Ala165Pro)
|
|
|
NM_001123385.2(BCOR):c.4943C>T (p.Pro1648Leu)
|
|
|
NM_001123385.2(BCOR):c.4976+17T>C
|
|
|
NM_001123385.2(BCOR):c.4977-4_4977-2delinsTTG
|
|
|
NM_001123385.2(BCOR):c.4981C>T (p.Arg1661Ter)
|
rs755680047
|
|
NM_001123385.2(BCOR):c.5000C>T (p.Ser1667Leu)
|
|
|
NM_001123385.2(BCOR):c.5003_5005del (p.Asp1668del)
|
rs2146829974
|
|
NM_001123385.2(BCOR):c.5029T>C (p.Ser1677Pro)
|
|
|
NM_001123385.2(BCOR):c.5144C>T (p.Ala1715Val)
|
|
|
NM_001123385.2(BCOR):c.5157A>T (p.Glu1719Asp)
|
rs2146825751
|
|
NM_001123385.2(BCOR):c.51C>G (p.Ser17Arg)
|
rs771428828
|
|
NM_001123385.2(BCOR):c.526C>T (p.Gln176Ter)
|
|
|
NM_001123385.2(BCOR):c.558T>G (p.Tyr186Ter)
|
|
|
NM_001123385.2(BCOR):c.563G>A (p.Arg188Gln)
|
|
|
NM_001123385.2(BCOR):c.594T>C (p.Gly198=)
|
rs1935704860
|
|
NM_001123385.2(BCOR):c.59T>C (p.Val20Ala)
|
|
|
NM_001123385.2(BCOR):c.627G>A (p.Ser209=)
|
rs1366096747
|
|
NM_001123385.2(BCOR):c.724G>A (p.Glu242Lys)
|
rs1935694930
|
|
NM_001123385.2(BCOR):c.733C>A (p.Leu245Ile)
|
rs1935693973
|
|
NM_001123385.2(BCOR):c.761G>A (p.Gly254Asp)
|
rs2147263152
|
|
NM_001123385.2(BCOR):c.786_790dup (p.Pro264fs)
|
rs1935688233
|
|
NM_001123385.2(BCOR):c.790C>T (p.Pro264Ser)
|
rs1935688006
|
|
NM_001123385.2(BCOR):c.793A>G (p.Met265Val)
|
|
|
NM_001123385.2(BCOR):c.799C>G (p.Leu267Val)
|
|
|
NM_001123385.2(BCOR):c.821dup (p.Ala275fs)
|
|
|
NM_001123385.2(BCOR):c.831G>A (p.Pro277=)
|
|
|
NM_001123385.2(BCOR):c.86+8C>G
|
rs753791832
|
|
NM_001123385.2(BCOR):c.87-19G>A
|
|
|
NM_001123385.2(BCOR):c.885T>C (p.Pro295=)
|
rs2147259368
|
|
NM_001123385.2(BCOR):c.922C>T (p.Gln308Ter)
|
|
|
NM_001123385.2(BCOR):c.932AGC[1] (p.Gln312del)
|
rs3840969
|
|
NM_001123385.2(BCOR):c.937C>A (p.Pro313Thr)
|
rs1935673901
|
|
NM_001123385.2(BCOR):c.938C>T (p.Pro313Leu)
|
rs1935673518
|
|
NM_001123385.2(BCOR):c.977C>T (p.Pro326Leu)
|
|
|
NM_001123385.2(BCOR):c.982del (p.Asp328fs)
|
rs1935668973
|
|
NM_001123385.2(BCOR):c.986C>G (p.Thr329Arg)
|
|
|
NM_001123385.2(BCOR):c.989C>T (p.Ala330Val)
|
|
|
NM_017745.5(BCOR):c.-292-?_*863+?dup
|
|
|