NM_001123385.2(BCOR):c.2514C>A (p.Pro838=)
|
rs147497014
|
0.00082
|
NM_001123385.2(BCOR):c.4724T>C (p.Met1575Thr)
|
rs142595337
|
0.00043
|
NM_001123385.2(BCOR):c.2525T>C (p.Val842Ala)
|
rs143119333
|
0.00032
|
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.5134G>A (p.Asp1712Asn)
|
rs148195891
|
0.00008
|
NM_001123385.2(BCOR):c.4960G>C (p.Val1654Leu)
|
rs138012019
|
0.00006
|
NM_001123385.2(BCOR):c.2910G>A (p.Ala970=)
|
rs138137552
|
0.00005
|
NM_001123385.2(BCOR):c.3711G>A (p.Val1237=)
|
rs753256966
|
0.00005
|
NM_001123385.2(BCOR):c.4258G>A (p.Asp1420Asn)
|
rs886042813
|
0.00005
|
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.4202C>T (p.Pro1401Leu)
|
rs201959477
|
0.00004
|
NM_001123385.2(BCOR):c.2287C>T (p.Arg763Trp)
|
rs780348147
|
0.00003
|
NM_001123385.2(BCOR):c.4173+5C>T
|
rs398124314
|
0.00003
|
NM_001123385.2(BCOR):c.163G>A (p.Val55Met)
|
rs142564611
|
0.00002
|
NM_001123385.2(BCOR):c.221G>A (p.Arg74His)
|
rs1434826738
|
0.00002
|
NM_001123385.2(BCOR):c.3941C>A (p.Ala1314Asp)
|
rs754985350
|
0.00002
|
NM_001123385.2(BCOR):c.5062G>C (p.Glu1688Gln)
|
rs1368427807
|
0.00002
|
NM_001123385.2(BCOR):c.86+9G>A
|
rs794727292
|
0.00002
|
NM_001123385.2(BCOR):c.1880A>G (p.Lys627Arg)
|
rs1057522664
|
0.00001
|
NM_001123385.2(BCOR):c.1952T>C (p.Ile651Thr)
|
rs746064364
|
0.00001
|
NM_001123385.2(BCOR):c.2519C>T (p.Pro840Leu)
|
rs904253464
|
0.00001
|
NM_001123385.2(BCOR):c.2991A>G (p.Ala997=)
|
rs150387371
|
0.00001
|
NM_001123385.2(BCOR):c.3956C>T (p.Ala1319Val)
|
rs758900726
|
0.00001
|
NM_001123385.2(BCOR):c.4541G>A (p.Arg1514Gln)
|
rs1187192426
|
0.00001
|
GRCh37/hg19 Xp11.4(chrX:39349074-40119639)x2
|
|
|
GRCh37/hg19 Xp11.4(chrX:39697946-39914660)x3
|
|
|
NM_001123385.2(BCOR):c.1775C>A (p.Pro592Gln)
|
rs765667331
|
|
NM_001123385.2(BCOR):c.1782_1787delinsGTG (p.Ile595_Gln596delinsTrp)
|
|
|
NM_001123385.2(BCOR):c.2008C>A (p.Pro670Thr)
|
|
|
NM_001123385.2(BCOR):c.2125G>A (p.Gly709Ser)
|
rs398124312
|
|
NM_001123385.2(BCOR):c.2275A>C (p.Thr759Pro)
|
|
|
NM_001123385.2(BCOR):c.2305del (p.Glu769fs)
|
rs1569155966
|
|
NM_001123385.2(BCOR):c.2416G>A (p.Val806Ile)
|
rs746216348
|
|
NM_001123385.2(BCOR):c.2423_2424delinsAC (p.Leu808His)
|
rs1569155643
|
|
NM_001123385.2(BCOR):c.2516A>G (p.Lys839Arg)
|
|
|
NM_001123385.2(BCOR):c.2581C>T (p.Arg861Cys)
|
|
|
NM_001123385.2(BCOR):c.2738C>A (p.Thr913Asn)
|
rs2147203630
|
|
NM_001123385.2(BCOR):c.2851G>C (p.Asp951His)
|
rs1935525202
|
|
NM_001123385.2(BCOR):c.2903A>G (p.Asn968Ser)
|
rs2147200517
|
|
NM_001123385.2(BCOR):c.2978G>A (p.Arg993Gln)
|
rs756356120
|
|
NM_001123385.2(BCOR):c.3053G>A (p.Arg1018His)
|
rs751015767
|
|
NM_001123385.2(BCOR):c.3155A>C (p.Glu1052Ala)
|
|
|
NM_001123385.2(BCOR):c.3193G>A (p.Val1065Ile)
|
rs1555917318
|
|
NM_001123385.2(BCOR):c.3238T>C (p.Cys1080Arg)
|
rs1602143995
|
|
NM_001123385.2(BCOR):c.3392G>T (p.Arg1131Leu)
|
rs758883383
|
|
NM_001123385.2(BCOR):c.3503-1G>C
|
rs1935042036
|
|
NM_001123385.2(BCOR):c.3560A>G (p.His1187Arg)
|
|
|
NM_001123385.2(BCOR):c.3568G>A (p.Glu1190Lys)
|
rs1555915488
|
|
NM_001123385.2(BCOR):c.3626G>A (p.Arg1209His)
|
rs1422527923
|
|
NM_001123385.2(BCOR):c.3664G>T (p.Val1222Leu)
|
|
|
NM_001123385.2(BCOR):c.3712_3729del (p.Thr1238_Pro1243del)
|
rs1569148032
|
|
NM_001123385.2(BCOR):c.37A>G (p.Ser13Gly)
|
rs1935888587
|
|
NM_001123385.2(BCOR):c.3847+7G>A
|
rs142686469
|
|
NM_001123385.2(BCOR):c.3933C>G (p.Cys1311Trp)
|
rs781293725
|
|
NM_001123385.2(BCOR):c.3944C>G (p.Ser1315Cys)
|
|
|
NM_001123385.2(BCOR):c.3958A>G (p.Lys1320Glu)
|
rs2147034066
|
|
NM_001123385.2(BCOR):c.4017G>C (p.Glu1339Asp)
|
|
|
NM_001123385.2(BCOR):c.4345A>G (p.Met1449Val)
|
rs774520249
|
|
NM_001123385.2(BCOR):c.4349C>T (p.Pro1450Leu)
|
rs1212276461
|
|
NM_001123385.2(BCOR):c.4376A>G (p.Asn1459Ser)
|
|
|
NM_001123385.2(BCOR):c.4405C>T (p.Arg1469Trp)
|
|
|
NM_001123385.2(BCOR):c.4443C>T (p.Tyr1481=)
|
rs1555913852
|
|
NM_001123385.2(BCOR):c.4468G>A (p.Val1490Ile)
|
|
|
NM_001123385.2(BCOR):c.4478G>A (p.Arg1493Gln)
|
|
|
NM_001123385.2(BCOR):c.4522G>A (p.Gly1508Ser)
|
|
|
NM_001123385.2(BCOR):c.4694C>T (p.Thr1565Ile)
|
|
|
NM_001123385.2(BCOR):c.4778_4780del (p.Asp1593del)
|
|
|
NM_001123385.2(BCOR):c.4852G>T (p.Ala1618Ser)
|
|
|
NM_001123385.2(BCOR):c.4943C>G (p.Pro1648Arg)
|
|
|
NM_001123385.2(BCOR):c.5035A>C (p.Ile1679Leu)
|
|
|
NM_001123385.2(BCOR):c.5174A>C (p.Asp1725Ala)
|
rs1057522572
|
|