NM_005188.4(CBL):c.1095+19G>T
|
rs2510152
|
0.61865
|
NM_005188.4(CBL):c.2592C>T (p.Leu864=)
|
rs1893177
|
0.03391
|
NM_005188.4(CBL):c.869+4A>G
|
rs77284821
|
0.02038
|
NM_005188.4(CBL):c.513T>C (p.Ser171=)
|
rs2227987
|
0.00741
|
NM_005188.4(CBL):c.1485G>A (p.Pro495=)
|
rs2229072
|
0.00547
|
NM_005188.4(CBL):c.2710G>A (p.Val904Ile)
|
rs17122769
|
0.00454
|
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu)
|
rs2229073
|
0.00281
|
NM_005188.4(CBL):c.869+19A>G
|
rs181589369
|
0.00232
|
NM_005188.4(CBL):c.1359A>C (p.Pro453=)
|
rs34732429
|
0.00188
|
NM_005188.4(CBL):c.870-19del
|
rs548130600
|
0.00185
|
NM_005188.4(CBL):c.2484G>A (p.Pro828=)
|
rs149533467
|
0.00166
|
NM_005188.4(CBL):c.2190G>C (p.Thr730=)
|
rs143840974
|
0.00137
|
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe)
|
rs2227988
|
0.00121
|
NM_005188.4(CBL):c.2466G>A (p.Arg822=)
|
rs556564719
|
0.00114
|
NM_005188.4(CBL):c.1227+20dup
|
rs530081144
|
0.00095
|
NM_005188.4(CBL):c.2036+9G>T
|
rs142704935
|
0.00076
|
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr)
|
rs146517083
|
0.00076
|
NM_005188.4(CBL):c.1641T>C (p.Pro547=)
|
rs61755280
|
0.00074
|
NM_005188.4(CBL):c.1227+4C>T
|
rs201747825
|
0.00048
|
NM_005188.4(CBL):c.1564-13C>T
|
rs117902985
|
0.00039
|
NM_005188.4(CBL):c.2363G>A (p.Arg788Gln)
|
rs150811339
|
0.00036
|
NM_005188.4(CBL):c.1942A>C (p.Ser648Arg)
|
rs143264567
|
0.00035
|
NM_005188.4(CBL):c.1287C>T (p.Ile429=)
|
rs148368481
|
0.00031
|
NM_005188.4(CBL):c.2588A>G (p.Asn863Ser)
|
rs146250423
|
0.00019
|
NM_005188.4(CBL):c.1871T>C (p.Leu624Ser)
|
rs150550899
|
0.00014
|
NM_005188.4(CBL):c.2513G>T (p.Gly838Val)
|
rs144191570
|
0.00014
|
NM_005188.4(CBL):c.1459A>G (p.Met487Val)
|
rs17848896
|
0.00012
|
NM_005188.4(CBL):c.2060C>T (p.Pro687Leu)
|
rs146705974
|
0.00012
|
NM_005188.4(CBL):c.1432-6C>T
|
rs371919794
|
0.00011
|
NM_005188.4(CBL):c.2359C>T (p.Arg787Cys)
|
rs143132980
|
0.00011
|
NM_005188.4(CBL):c.2360G>A (p.Arg787His)
|
rs200220863
|
0.00011
|
NM_005188.4(CBL):c.2312A>T (p.Asp771Val)
|
rs199788586
|
0.00010
|
NM_005188.4(CBL):c.2542G>A (p.Ala848Thr)
|
rs141710973
|
0.00010
|
NM_005188.4(CBL):c.1566T>C (p.Ala522=)
|
rs371065029
|
0.00009
|
NM_005188.4(CBL):c.2223G>A (p.Ala741=)
|
rs202229538
|
0.00009
|
NM_005188.4(CBL):c.2268C>T (p.Ala756=)
|
rs142564074
|
0.00009
|
NM_005188.4(CBL):c.590+20A>G
|
rs769677676
|
0.00009
|
NM_005188.4(CBL):c.873T>C (p.Tyr291=)
|
rs756526812
|
0.00009
|
NM_005188.4(CBL):c.1356C>T (p.Ser452=)
|
rs150443504
|
0.00008
|
NM_005188.4(CBL):c.195+13C>T
|
rs893347300
|
0.00008
|
NM_005188.4(CBL):c.2349C>T (p.Ala783=)
|
rs552509693
|
0.00008
|
NM_005188.4(CBL):c.2569C>T (p.Leu857Phe)
|
rs201631570
|
0.00008
|
NM_005188.4(CBL):c.1299G>A (p.Pro433=)
|
rs199633558
|
0.00007
|
NM_005188.4(CBL):c.1443G>T (p.Pro481=)
|
rs768111719
|
0.00007
|
NM_005188.4(CBL):c.2126G>A (p.Arg709Gln)
|
rs770667508
|
0.00007
|
NM_005188.4(CBL):c.951A>G (p.Thr317=)
|
rs34851541
|
0.00007
|
NM_005188.4(CBL):c.1008-18G>A
|
rs764185548
|
0.00006
|
NM_005188.4(CBL):c.1423G>A (p.Gly475Ser)
|
rs764599897
|
0.00006
|
NM_005188.4(CBL):c.1643C>T (p.Pro548Leu)
|
rs17848897
|
0.00006
|
NM_005188.4(CBL):c.1753C>T (p.Arg585Cys)
|
rs187952822
|
0.00006
|
NM_005188.4(CBL):c.2216C>T (p.Ser739Phe)
|
rs2227986
|
0.00006
|
NM_005188.4(CBL):c.2252-8T>C
|
rs555179188
|
0.00006
|
NM_005188.4(CBL):c.2262T>G (p.Asn754Lys)
|
rs148139669
|
0.00006
|
NM_005188.4(CBL):c.2461G>A (p.Glu821Lys)
|
rs759358775
|
0.00006
|
NM_005188.4(CBL):c.2721G>A (p.Ter907=)
|
rs937827423
|
0.00006
|
NM_005188.4(CBL):c.869+10A>G
|
rs768380727
|
0.00006
|
NM_005188.4(CBL):c.1095+3G>A
|
rs373738394
|
0.00005
|
NM_005188.4(CBL):c.1432-10T>C
|
rs369724825
|
0.00005
|
NM_005188.4(CBL):c.1528C>G (p.Pro510Ala)
|
rs538054260
|
0.00005
|
NM_005188.4(CBL):c.1647C>A (p.Asp549Glu)
|
rs369030902
|
0.00005
|
NM_005188.4(CBL):c.1723A>G (p.Arg575Gly)
|
rs374515645
|
0.00005
|
NM_005188.4(CBL):c.2482C>T (p.Pro828Ser)
|
rs371026706
|
0.00005
|
NM_005188.4(CBL):c.2520T>G (p.Cys840Trp)
|
rs112330156
|
0.00005
|
NM_005188.4(CBL):c.1140A>G (p.Leu380=)
|
rs370331997
|
0.00004
|
NM_005188.4(CBL):c.1228-10T>G
|
rs754477196
|
0.00004
|
NM_005188.4(CBL):c.1357C>T (p.Pro453Ser)
|
rs748055961
|
0.00004
|
NM_005188.4(CBL):c.1360A>G (p.Asn454Asp)
|
rs371850672
|
0.00004
|
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe)
|
rs730880434
|
0.00004
|
NM_005188.4(CBL):c.1511C>T (p.Pro504Leu)
|
rs533554769
|
0.00004
|
NM_005188.4(CBL):c.1564-18T>C
|
rs754540533
|
0.00004
|
NM_005188.4(CBL):c.1638G>A (p.Pro546=)
|
rs375702554
|
0.00004
|
NM_005188.4(CBL):c.1648C>T (p.Arg550Trp)
|
rs202065722
|
0.00004
|
NM_005188.4(CBL):c.1911C>T (p.Leu637=)
|
rs552760421
|
0.00004
|
NM_005188.4(CBL):c.1942-17T>C
|
rs907111206
|
0.00004
|
NM_005188.4(CBL):c.195+3G>A
|
rs762062705
|
0.00004
|
NM_005188.4(CBL):c.2024C>G (p.Ser675Cys)
|
rs553979171
|
0.00004
|
NM_005188.4(CBL):c.2073A>G (p.Gln691=)
|
rs140298671
|
0.00004
|
NM_005188.4(CBL):c.2083G>A (p.Glu695Lys)
|
rs143975631
|
0.00004
|
NM_005188.4(CBL):c.2206A>G (p.Asn736Asp)
|
rs397507497
|
0.00004
|
NM_005188.4(CBL):c.2486G>A (p.Arg829Gln)
|
rs374672276
|
0.00004
|
NM_005188.4(CBL):c.2614C>A (p.Gln872Lys)
|
rs746795014
|
0.00004
|
NM_005188.4(CBL):c.2677C>T (p.Arg893Trp)
|
rs368138875
|
0.00004
|
NM_005188.4(CBL):c.711G>A (p.Ser237=)
|
rs146662327
|
0.00004
|
NM_005188.4(CBL):c.819G>A (p.Thr273=)
|
rs750907780
|
0.00004
|
NM_005188.4(CBL):c.837T>C (p.Ala279=)
|
rs140250592
|
0.00004
|
NM_005188.4(CBL):c.1353C>T (p.Pro451=)
|
rs201616881
|
0.00003
|
NM_005188.4(CBL):c.1484C>T (p.Pro495Leu)
|
rs373989524
|
0.00003
|
NM_005188.4(CBL):c.1495C>A (p.Arg499=)
|
rs778927765
|
0.00003
|
NM_005188.4(CBL):c.1512G>A (p.Pro504=)
|
rs758285751
|
0.00003
|
NM_005188.4(CBL):c.1676G>T (p.Arg559Leu)
|
rs143034856
|
0.00003
|
NM_005188.4(CBL):c.1703C>T (p.Thr568Ile)
|
rs762016318
|
0.00003
|
NM_005188.4(CBL):c.1920G>A (p.Thr640=)
|
rs202158626
|
0.00003
|
NM_005188.4(CBL):c.2666A>G (p.Lys889Arg)
|
rs1369884955
|
0.00003
|
NM_005188.4(CBL):c.2691C>T (p.Ser897=)
|
rs762560254
|
0.00003
|
NM_005188.4(CBL):c.516A>G (p.Gly172=)
|
rs765968487
|
0.00003
|
NM_005188.4(CBL):c.869+15G>A
|
rs761328610
|
0.00003
|
NM_005188.4(CBL):c.1031A>G (p.Asn344Ser)
|
rs370489946
|
0.00002
|
NM_005188.4(CBL):c.1211G>A (p.Cys404Tyr)
|
rs192712314
|
0.00002
|
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln)
|
rs267606708
|
0.00002
|
NM_005188.4(CBL):c.1394A>T (p.Asp465Val)
|
rs770644035
|
0.00002
|
NM_005188.4(CBL):c.1463C>T (p.Ala488Val)
|
rs377502790
|
0.00002
|
NM_005188.4(CBL):c.1468C>G (p.Gln490Glu)
|
rs1368426444
|
0.00002
|
NM_005188.4(CBL):c.1651C>T (p.Pro551Ser)
|
rs200305176
|
0.00002
|
NM_005188.4(CBL):c.1777C>T (p.Arg593Trp)
|
rs776999573
|
0.00002
|
NM_005188.4(CBL):c.1783A>G (p.Ile595Val)
|
rs775675805
|
0.00002
|
NM_005188.4(CBL):c.1830A>G (p.Thr610=)
|
rs756758516
|
0.00002
|
NM_005188.4(CBL):c.1927C>T (p.Leu643=)
|
rs139939244
|
0.00002
|
NM_005188.4(CBL):c.1941+17A>T
|
rs752171870
|
0.00002
|
NM_005188.4(CBL):c.1942-4C>T
|
rs776366304
|
0.00002
|
NM_005188.4(CBL):c.195+10C>A
|
rs878854755
|
0.00002
|
NM_005188.4(CBL):c.195+14T>G
|
rs1011872703
|
0.00002
|
NM_005188.4(CBL):c.2153G>A (p.Arg718Gln)
|
rs144894769
|
0.00002
|
NM_005188.4(CBL):c.2189C>T (p.Thr730Met)
|
rs376848406
|
0.00002
|
NM_005188.4(CBL):c.2199A>G (p.Ala733=)
|
rs1272395484
|
0.00002
|
NM_005188.4(CBL):c.2235C>T (p.Thr745=)
|
rs763880494
|
0.00002
|
NM_005188.4(CBL):c.2287G>A (p.Gly763Ser)
|
rs1454216416
|
0.00002
|
NM_005188.4(CBL):c.2350G>A (p.Val784Met)
|
rs140725852
|
0.00002
|
NM_005188.4(CBL):c.2435-4C>T
|
rs770832773
|
0.00002
|
NM_005188.4(CBL):c.2485C>T (p.Arg829Trp)
|
rs761245258
|
0.00002
|
NM_005188.4(CBL):c.2535T>C (p.Gly845=)
|
rs778902867
|
0.00002
|
NM_005188.4(CBL):c.2678G>A (p.Arg893Gln)
|
rs751198294
|
0.00002
|
NM_005188.4(CBL):c.286C>T (p.Arg96Cys)
|
rs147438359
|
0.00002
|
NM_005188.4(CBL):c.446G>A (p.Arg149Gln)
|
rs199739868
|
0.00002
|
NM_005188.4(CBL):c.560C>T (p.Ala187Val)
|
rs587778162
|
0.00002
|
NM_005188.4(CBL):c.664A>C (p.Met222Leu)
|
rs773611782
|
0.00002
|
NM_005188.4(CBL):c.698A>G (p.Asn233Ser)
|
rs143276937
|
0.00002
|
NM_005188.4(CBL):c.801C>G (p.Gly267=)
|
rs727502913
|
0.00002
|
NM_005188.4(CBL):c.825C>T (p.Asp275=)
|
rs751768529
|
0.00002
|
NM_005188.4(CBL):c.838C>T (p.Arg280Trp)
|
rs730880432
|
0.00002
|
NM_005188.4(CBL):c.1008-10C>T
|
rs1376523909
|
0.00001
|
NM_005188.4(CBL):c.1008-11A>G
|
rs1173312041
|
0.00001
|
NM_005188.4(CBL):c.1008-8C>T
|
rs1172261425
|
0.00001
|
NM_005188.4(CBL):c.1027C>T (p.Arg343Ter)
|
rs765471101
|
0.00001
|
NM_005188.4(CBL):c.1028G>A (p.Arg343Gln)
|
rs759585425
|
0.00001
|
NM_005188.4(CBL):c.1071C>T (p.Pro357=)
|
rs397517075
|
0.00001
|
NM_005188.4(CBL):c.1074A>G (p.Gln358=)
|
rs1060500678
|
0.00001
|
NM_005188.4(CBL):c.1094A>G (p.Gln365Arg)
|
rs756742202
|
0.00001
|
NM_005188.4(CBL):c.1096-1G>T
|
rs397517076
|
0.00001
|
NM_005188.4(CBL):c.1111T>C (p.Tyr371His)
|
rs267606706
|
0.00001
|
NM_005188.4(CBL):c.1128C>T (p.Ser376=)
|
rs1949904381
|
0.00001
|
NM_005188.4(CBL):c.1139T>C (p.Leu380Pro)
|
rs1377506801
|
0.00001
|
NM_005188.4(CBL):c.1182G>A (p.Glu394=)
|
rs760728674
|
0.00001
|
NM_005188.4(CBL):c.1191A>G (p.Gly397=)
|
rs761630653
|
0.00001
|
NM_005188.4(CBL):c.1206A>G (p.Thr402=)
|
rs764805609
|
0.00001
|
NM_005188.4(CBL):c.1217C>T (p.Thr406Ile)
|
rs757834577
|
0.00001
|
NM_005188.4(CBL):c.1221C>T (p.Ser407=)
|
rs751978701
|
0.00001
|
NM_005188.4(CBL):c.1227+5G>A
|
rs756550704
|
0.00001
|
NM_005188.4(CBL):c.1240C>G (p.Gln414Glu)
|
rs1268484791
|
0.00001
|
NM_005188.4(CBL):c.1245C>G (p.Gly415=)
|
rs751199195
|
0.00001
|
NM_005188.4(CBL):c.1277C>T (p.Thr426Ile)
|
rs769547118
|
0.00001
|
NM_005188.4(CBL):c.1281A>G (p.Glu427=)
|
rs773110111
|
0.00001
|
NM_005188.4(CBL):c.1282C>T (p.Pro428Ser)
|
rs762677807
|
0.00001
|
NM_005188.4(CBL):c.1288G>A (p.Val430Met)
|
rs991981291
|
0.00001
|
NM_005188.4(CBL):c.1298C>T (p.Pro433Leu)
|
rs140627020
|
0.00001
|
NM_005188.4(CBL):c.1320C>T (p.Gly440=)
|
rs794727972
|
0.00001
|
NM_005188.4(CBL):c.1324C>A (p.Leu442Met)
|
rs200508558
|
0.00001
|
NM_005188.4(CBL):c.1326G>A (p.Leu442=)
|
rs548423757
|
0.00001
|
NM_005188.4(CBL):c.1364A>G (p.Tyr455Cys)
|
rs1565872426
|
0.00001
|
NM_005188.4(CBL):c.1399C>G (p.Leu467Val)
|
rs771673435
|
0.00001
|
NM_005188.4(CBL):c.1424G>T (p.Gly475Val)
|
rs200054267
|
0.00001
|
NM_005188.4(CBL):c.1431+11A>C
|
rs891410943
|
0.00001
|
NM_005188.4(CBL):c.1455C>G (p.Phe485Leu)
|
rs369547447
|
0.00001
|
NM_005188.4(CBL):c.1460T>C (p.Met487Thr)
|
rs995860476
|
0.00001
|
NM_005188.4(CBL):c.1517G>T (p.Arg506Leu)
|
rs746728465
|
0.00001
|
NM_005188.4(CBL):c.1529C>G (p.Pro510Arg)
|
rs776055321
|
0.00001
|
NM_005188.4(CBL):c.1534A>G (p.Ser512Gly)
|
rs1427688105
|
0.00001
|
NM_005188.4(CBL):c.1552A>G (p.Thr518Ala)
|
rs377734587
|
0.00001
|
NM_005188.4(CBL):c.1558T>C (p.Ser520Pro)
|
rs371686364
|
0.00001
|
NM_005188.4(CBL):c.1563+13C>T
|
rs199795242
|
0.00001
|
NM_005188.4(CBL):c.1564-16C>A
|
rs992126448
|
0.00001
|
NM_005188.4(CBL):c.1622A>T (p.Asp541Val)
|
rs147285276
|
0.00001
|
NM_005188.4(CBL):c.1637C>T (p.Pro546Leu)
|
rs751274314
|
0.00001
|
NM_005188.4(CBL):c.1649G>A (p.Arg550Gln)
|
rs1949973841
|
0.00001
|
NM_005188.4(CBL):c.1680T>C (p.Pro560=)
|
rs1949974116
|
0.00001
|
NM_005188.4(CBL):c.1687C>T (p.Arg563Cys)
|
rs768837912
|
0.00001
|
NM_005188.4(CBL):c.1688G>A (p.Arg563His)
|
rs1423287961
|
0.00001
|
NM_005188.4(CBL):c.1694T>C (p.Leu565Ser)
|
rs1174693367
|
0.00001
|
NM_005188.4(CBL):c.1695G>A (p.Leu565=)
|
rs776804746
|
0.00001
|
NM_005188.4(CBL):c.1735C>T (p.Pro579Ser)
|
rs752260506
|
0.00001
|
NM_005188.4(CBL):c.1786C>T (p.Pro596Ser)
|
rs1304284873
|
0.00001
|
NM_005188.4(CBL):c.1788C>G (p.Pro596=)
|
rs1060503995
|
0.00001
|
NM_005188.4(CBL):c.1804G>T (p.Ala602Ser)
|
rs1365230067
|
0.00001
|
NM_005188.4(CBL):c.1822C>A (p.Pro608Thr)
|
rs763666786
|
0.00001
|
NM_005188.4(CBL):c.1849C>T (p.Arg617Trp)
|
rs538013681
|
0.00001
|
NM_005188.4(CBL):c.1891A>G (p.Arg631Gly)
|
rs552590011
|
0.00001
|
NM_005188.4(CBL):c.1925G>T (p.Ser642Ile)
|
rs571045498
|
0.00001
|
NM_005188.4(CBL):c.1959A>G (p.Pro653=)
|
rs752080219
|
0.00001
|
NM_005188.4(CBL):c.196-16T>C
|
rs1171075655
|
0.00001
|
NM_005188.4(CBL):c.1997C>T (p.Pro666Leu)
|
rs1461378431
|
0.00001
|
NM_005188.4(CBL):c.2004A>T (p.Ser668=)
|
rs994833014
|
0.00001
|
NM_005188.4(CBL):c.2012A>G (p.Asn671Ser)
|
rs760168148
|
0.00001
|
NM_005188.4(CBL):c.202C>T (p.Arg68Trp)
|
rs730880429
|
0.00001
|
NM_005188.4(CBL):c.2034C>T (p.Ala678=)
|
rs1949996840
|
0.00001
|
NM_005188.4(CBL):c.2044C>G (p.Pro682Ala)
|
rs764430929
|
0.00001
|
NM_005188.4(CBL):c.2053A>G (p.Lys685Glu)
|
rs1555027603
|
0.00001
|
NM_005188.4(CBL):c.2055A>G (p.Lys685=)
|
rs1454595224
|
0.00001
|
NM_005188.4(CBL):c.2062C>T (p.Pro688Ser)
|
rs730880428
|
0.00001
|
NM_005188.4(CBL):c.2086G>A (p.Glu696Lys)
|
rs539217274
|
0.00001
|
NM_005188.4(CBL):c.2097G>A (p.Glu699=)
|
rs1057519031
|
0.00001
|
NM_005188.4(CBL):c.2108C>T (p.Pro703Leu)
|
rs368798262
|
0.00001
|
NM_005188.4(CBL):c.2125C>T (p.Arg709Trp)
|
rs587778155
|
0.00001
|
NM_005188.4(CBL):c.2153+10C>T
|
rs745316113
|
0.00001
|
NM_005188.4(CBL):c.2155G>A (p.Ala719Thr)
|
rs757126995
|
0.00001
|
NM_005188.4(CBL):c.2169C>T (p.Asp723=)
|
rs1447136408
|
0.00001
|
NM_005188.4(CBL):c.2222C>T (p.Ala741Val)
|
rs763213265
|
0.00001
|
NM_005188.4(CBL):c.2227T>C (p.Ser743Pro)
|
rs759665371
|
0.00001
|
NM_005188.4(CBL):c.2230A>G (p.Ile744Val)
|
rs1422371091
|
0.00001
|
NM_005188.4(CBL):c.227C>T (p.Ala76Val)
|
rs757898729
|
0.00001
|
NM_005188.4(CBL):c.2292C>T (p.Pro764=)
|
rs538991997
|
0.00001
|
NM_005188.4(CBL):c.2308G>A (p.Glu770Lys)
|
rs749595774
|
0.00001
|
NM_005188.4(CBL):c.2316T>G (p.Asp772Glu)
|
rs774428573
|
0.00001
|
NM_005188.4(CBL):c.2318G>A (p.Gly773Glu)
|
rs1241925405
|
0.00001
|
NM_005188.4(CBL):c.2339C>T (p.Pro780Leu)
|
rs1401610037
|
0.00001
|
NM_005188.4(CBL):c.2346G>A (p.Pro782=)
|
rs762655460
|
0.00001
|
NM_005188.4(CBL):c.2366C>T (p.Thr789Ile)
|
rs757530036
|
0.00001
|
NM_005188.4(CBL):c.2389A>C (p.Ser797Arg)
|
rs138151048
|
0.00001
|
NM_005188.4(CBL):c.2390G>C (p.Ser797Thr)
|
rs747073805
|
0.00001
|
NM_005188.4(CBL):c.2393C>T (p.Ser798Phe)
|
rs587778158
|
0.00001
|
NM_005188.4(CBL):c.2401G>T (p.Gly801Cys)
|
rs1465141746
|
0.00001
|
NM_005188.4(CBL):c.2414_2416dup (p.Leu805_Asp806insVal)
|
rs777761446
|
0.00001
|
NM_005188.4(CBL):c.2432C>T (p.Thr811Ile)
|
rs749068285
|
0.00001
|
NM_005188.4(CBL):c.2433A>G (p.Thr811=)
|
rs200566020
|
0.00001
|
NM_005188.4(CBL):c.2434+15dup
|
rs397517079
|
0.00001
|
NM_005188.4(CBL):c.243A>G (p.Pro81=)
|
rs863224399
|
0.00001
|
NM_005188.4(CBL):c.2451C>T (p.Ser817=)
|
rs1214485253
|
0.00001
|
NM_005188.4(CBL):c.2458C>G (p.Pro820Ala)
|
rs1356499832
|
0.00001
|
NM_005188.4(CBL):c.2460C>T (p.Pro820=)
|
rs774166893
|
0.00001
|
NM_005188.4(CBL):c.246T>G (p.Pro82=)
|
rs764747073
|
0.00001
|
NM_005188.4(CBL):c.2503C>T (p.Arg835Trp)
|
rs368696716
|
0.00001
|
NM_005188.4(CBL):c.2515A>G (p.Ser839Gly)
|
rs748936051
|
0.00001
|
NM_005188.4(CBL):c.2530A>C (p.Ser844Arg)
|
rs587778159
|
0.00001
|
NM_005188.4(CBL):c.2533G>A (p.Gly845Ser)
|
rs997859448
|
0.00001
|
NM_005188.4(CBL):c.2537C>T (p.Pro846Leu)
|
rs771831548
|
0.00001
|
NM_005188.4(CBL):c.2556C>T (p.Thr852=)
|
rs199537344
|
0.00001
|
NM_005188.4(CBL):c.2557G>A (p.Ala853Thr)
|
rs1393832618
|
0.00001
|
NM_005188.4(CBL):c.2583C>T (p.Ile861=)
|
rs397517080
|
0.00001
|
NM_005188.4(CBL):c.2584G>A (p.Glu862Lys)
|
rs397507498
|
0.00001
|
NM_005188.4(CBL):c.2612A>G (p.Tyr871Cys)
|
rs1237783221
|
0.00001
|
NM_005188.4(CBL):c.2652C>T (p.Asn884=)
|
rs879302360
|
0.00001
|
NM_005188.4(CBL):c.2655C>T (p.Ile885=)
|
rs747804658
|
0.00001
|
NM_005188.4(CBL):c.2656G>A (p.Glu886Lys)
|
rs1435757249
|
0.00001
|
NM_005188.4(CBL):c.2692A>G (p.Ile898Val)
|
rs397507499
|
0.00001
|
NM_005188.4(CBL):c.271A>G (p.Thr91Ala)
|
rs587778160
|
0.00001
|
NM_005188.4(CBL):c.292A>G (p.Ile98Val)
|
rs1415440583
|
0.00001
|
NM_005188.4(CBL):c.443+17A>G
|
rs1438042521
|
0.00001
|
NM_005188.4(CBL):c.444-9C>T
|
rs892852052
|
0.00001
|
NM_005188.4(CBL):c.469A>G (p.Ile157Val)
|
rs730880430
|
0.00001
|
NM_005188.4(CBL):c.495A>G (p.Leu165=)
|
rs764992632
|
0.00001
|
NM_005188.4(CBL):c.511A>G (p.Ser171Gly)
|
rs1358074406
|
0.00001
|
NM_005188.4(CBL):c.522T>C (p.Phe174=)
|
rs727502912
|
0.00001
|
NM_005188.4(CBL):c.572G>C (p.Arg191Thr)
|
rs756736832
|
0.00001
|
NM_005188.4(CBL):c.573A>G (p.Arg191=)
|
rs1254459327
|
0.00001
|
NM_005188.4(CBL):c.578C>T (p.Ala193Val)
|
rs749633193
|
0.00001
|
NM_005188.4(CBL):c.590+11G>A
|
rs772028174
|
0.00001
|
NM_005188.4(CBL):c.595A>G (p.Ile199Val)
|
rs397517082
|
0.00001
|
NM_005188.4(CBL):c.611G>C (p.Ser204Thr)
|
rs759082853
|
0.00001
|
NM_005188.4(CBL):c.624T>C (p.Ala208=)
|
rs757950499
|
0.00001
|
NM_005188.4(CBL):c.625C>G (p.Leu209Val)
|
rs767162260
|
0.00001
|
NM_005188.4(CBL):c.660G>A (p.Glu220=)
|
rs949933368
|
0.00001
|
NM_005188.4(CBL):c.691A>G (p.Thr231Ala)
|
rs1457872297
|
0.00001
|
NM_005188.4(CBL):c.714T>G (p.Val238=)
|
rs371523922
|
0.00001
|
NM_005188.4(CBL):c.747+8A>G
|
rs199517263
|
0.00001
|
NM_005188.4(CBL):c.748-15A>G
|
rs879784628
|
0.00001
|
NM_005188.4(CBL):c.755C>G (p.Ser252Cys)
|
rs1477764968
|
0.00001
|
NM_005188.4(CBL):c.805A>G (p.Met269Val)
|
rs372452974
|
0.00001
|
NM_005188.4(CBL):c.822T>C (p.Tyr274=)
|
rs766797364
|
0.00001
|
NM_005188.4(CBL):c.826G>A (p.Glu276Lys)
|
rs755244263
|
0.00001
|
NM_005188.4(CBL):c.829G>T (p.Val277Leu)
|
rs1439017220
|
0.00001
|
NM_005188.4(CBL):c.839G>A (p.Arg280Gln)
|
rs145155035
|
0.00001
|
NM_005188.4(CBL):c.870-18G>T
|
rs1440973761
|
0.00001
|
NM_005188.4(CBL):c.898C>T (p.Leu300=)
|
rs771326694
|
0.00001
|
NM_005188.4(CBL):c.929C>T (p.Ala310Val)
|
rs764199611
|
0.00001
|
NC_000011.9:g.(?_119077128)_(119077342_?)del
|
|
|
NC_000011.9:g.(?_119077128)_(119077342_?)dup
|
|
|
NC_000011.9:g.(?_119144558)_(119156296_?)del
|
|
|
NM_005188.4(CBL):c.1007+16A>G
|
rs1454883852
|
|
NM_005188.4(CBL):c.1007+19C>T
|
|
|
NM_005188.4(CBL):c.1008-11A>C
|
|
|
NM_005188.4(CBL):c.1023T>C (p.Asp341=)
|
rs1368487308
|
|
NM_005188.4(CBL):c.1027C>G (p.Arg343Gly)
|
|
|
NM_005188.4(CBL):c.1033C>G (p.Gln345Glu)
|
rs202095002
|
|
NM_005188.4(CBL):c.1039C>T (p.Pro347Ser)
|
|
|
NM_005188.4(CBL):c.1043A>G (p.Asp348Gly)
|
rs1592400595
|
|
NM_005188.4(CBL):c.1049C>T (p.Thr350Ile)
|
|
|
NM_005188.4(CBL):c.1062A>G (p.Glu354=)
|
|
|
NM_005188.4(CBL):c.1081A>G (p.Ile361Val)
|
|
|
NM_005188.4(CBL):c.1082T>C (p.Ile361Thr)
|
|
|
NM_005188.4(CBL):c.1088T>C (p.Val363Ala)
|
rs1592400621
|
|
NM_005188.4(CBL):c.1088T>G (p.Val363Gly)
|
rs1592400621
|
|
NM_005188.4(CBL):c.1091C>T (p.Thr364Ile)
|
rs2135303015
|
|
NM_005188.4(CBL):c.1095+10G>T
|
|
|
NM_005188.4(CBL):c.1095+18T>C
|
rs532317818
|
|
NM_005188.4(CBL):c.1095+18_1095+19delinsGT
|
rs2135303045
|
|
NM_005188.4(CBL):c.1096-14T>G
|
|
|
NM_005188.4(CBL):c.1096-17A>T
|
|
|
NM_005188.4(CBL):c.1096-18A>G
|
|
|
NM_005188.4(CBL):c.1096-1G>C
|
rs397517076
|
|
NM_005188.4(CBL):c.1096-21_1096-19del
|
|
|
NM_005188.4(CBL):c.1096-26_1099inv
|
|
|
NM_005188.4(CBL):c.1096-4_1096-1del
|
rs397517077
|
|
NM_005188.4(CBL):c.1096-5C>T
|
|
|
NM_005188.4(CBL):c.1096-7A>G
|
rs1057517968
|
|
NM_005188.4(CBL):c.1096-8A>G
|
rs2135303472
|
|
NM_005188.4(CBL):c.1096-9del
|
rs758061092
|
|
NM_005188.4(CBL):c.1097A>G (p.Glu366Gly)
|
|
|
NM_005188.4(CBL):c.1099C>A (p.Gln367Lys)
|
rs727504504
|
|
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro)
|
rs267606704
|
|
NM_005188.4(CBL):c.1100A>G (p.Gln367Arg)
|
rs267606704
|
|
NM_005188.4(CBL):c.1104T>C (p.Tyr368=)
|
rs1421407887
|
|
NM_005188.4(CBL):c.1107_1118del (p.Leu370_Glu373del)
|
|
|
NM_005188.4(CBL):c.1110A>C (p.Leu370Phe)
|
|
|
NM_005188.4(CBL):c.1110A>G (p.Leu370=)
|
rs754168206
|
|
NM_005188.4(CBL):c.1111T>A (p.Tyr371Asn)
|
rs267606706
|
|
NM_005188.4(CBL):c.1111T>G (p.Tyr371Asp)
|
|
|
NM_005188.4(CBL):c.1112A>C (p.Tyr371Ser)
|
rs387906666
|
|
NM_005188.4(CBL):c.1112A>T (p.Tyr371Phe)
|
rs387906666
|
|
NM_005188.4(CBL):c.1112_1114del (p.Tyr371del)
|
rs2135303545
|
|
NM_005188.4(CBL):c.1119G>T (p.Glu373Asp)
|
rs571152174
|
|
NM_005188.4(CBL):c.1120A>T (p.Met374Leu)
|
|
|
NM_005188.4(CBL):c.1125C>T (p.Gly375=)
|
|
|
NM_005188.4(CBL):c.1126T>C (p.Ser376Pro)
|
|
|
NM_005188.4(CBL):c.1129del (p.Thr377fs)
|
|
|
NM_005188.4(CBL):c.1132_1137del (p.Phe378_Gln379del)
|
rs2135303632
|
|
NM_005188.4(CBL):c.1137A>C (p.Gln379His)
|
rs757933118
|
|
NM_005188.4(CBL):c.1137A>G (p.Gln379=)
|
rs757933118
|
|
NM_005188.4(CBL):c.1141T>C (p.Cys381Arg)
|
rs757874631
|
|
NM_005188.4(CBL):c.1142G>A (p.Cys381Tyr)
|
|
|
NM_005188.4(CBL):c.1144A>G (p.Lys382Glu)
|
rs267606705
|
|
NM_005188.4(CBL):c.1145A>G (p.Lys382Arg)
|
|
|
NM_005188.4(CBL):c.1147A>C (p.Ile383Leu)
|
|
|
NM_005188.4(CBL):c.1148T>C (p.Ile383Thr)
|
|
|
NM_005188.4(CBL):c.1149A>G (p.Ile383Met)
|
rs2135303712
|
|
NM_005188.4(CBL):c.1150T>C (p.Cys384Arg)
|
rs387906664
|
|
NM_005188.4(CBL):c.1150T>G (p.Cys384Gly)
|
rs387906664
|
|
NM_005188.4(CBL):c.1151G>A (p.Cys384Tyr)
|
|
|
NM_005188.4(CBL):c.1153G>A (p.Ala385Thr)
|
|
|
NM_005188.4(CBL):c.1156G>A (p.Glu386Lys)
|
rs1592400852
|
|
NM_005188.4(CBL):c.1163A>G (p.Asp388Gly)
|
rs2135303762
|
|
NM_005188.4(CBL):c.1165A>G (p.Lys389Glu)
|
rs1060500676
|
|
NM_005188.4(CBL):c.1167G>C (p.Lys389Asn)
|
|
|
NM_005188.4(CBL):c.1167G>T (p.Lys389Asn)
|
rs773598122
|
|
NM_005188.4(CBL):c.1169A>T (p.Asp390Val)
|
rs763058208
|
|
NM_005188.4(CBL):c.1173A>G (p.Val391=)
|
|
|
NM_005188.4(CBL):c.1175A>T (p.Lys392Met)
|
rs2135303785
|
|
NM_005188.4(CBL):c.1183C>T (p.Pro395Ser)
|
|
|
NM_005188.4(CBL):c.1186T>C (p.Cys396Arg)
|
rs387906665
|
|
NM_005188.4(CBL):c.1187G>A (p.Cys396Tyr)
|
rs1949905062
|
|
NM_005188.4(CBL):c.1193A>G (p.His398Arg)
|
rs1303812580
|
|
NM_005188.4(CBL):c.1196T>A (p.Leu399His)
|
|
|
NM_005188.4(CBL):c.1196T>C (p.Leu399Pro)
|
|
|
NM_005188.4(CBL):c.1197C>A (p.Leu399=)
|
|
|
NM_005188.4(CBL):c.1198A>C (p.Met400Leu)
|
|
|
NM_005188.4(CBL):c.1198A>G (p.Met400Val)
|
|
|
NM_005188.4(CBL):c.1198A>T (p.Met400Leu)
|
|
|
NM_005188.4(CBL):c.1199T>C (p.Met400Thr)
|
rs397507491
|
|
NM_005188.4(CBL):c.1201T>C (p.Cys401Arg)
|
rs397507492
|
|
NM_005188.4(CBL):c.1202G>T (p.Cys401Phe)
|
rs1357686410
|
|
NM_005188.4(CBL):c.1209C>T (p.Ser403=)
|
rs978200568
|
|
NM_005188.4(CBL):c.1210T>A (p.Cys404Ser)
|
rs1949905314
|
|
NM_005188.4(CBL):c.1210T>C (p.Cys404Arg)
|
rs1949905314
|
|
NM_005188.4(CBL):c.1218A>C (p.Thr406=)
|
rs761053226
|
|
NM_005188.4(CBL):c.1218A>G (p.Thr406=)
|
rs761053226
|
|
NM_005188.4(CBL):c.1219T>C (p.Ser407Pro)
|
|
|
NM_005188.4(CBL):c.1220C>A (p.Ser407Tyr)
|
rs2135303902
|
|
NM_005188.4(CBL):c.1220C>T (p.Ser407Phe)
|
|
|
NM_005188.4(CBL):c.1227+17C>A
|
|
|
NM_005188.4(CBL):c.1227+17C>T
|
rs749579743
|
|
NM_005188.4(CBL):c.1227+2T>C
|
|
|
NM_005188.4(CBL):c.1227+5G>C
|
|
|
NM_005188.4(CBL):c.1228-10dup
|
rs397517078
|
|
NM_005188.4(CBL):c.1228-20A>G
|
rs1438346127
|
|
NM_005188.4(CBL):c.1228-20_1228-17del
|
rs370327162
|
|
NM_005188.4(CBL):c.1228-2A>G
|
rs727504426
|
|
NM_005188.4(CBL):c.1230A>G (p.Glu410=)
|
|
|
NM_005188.4(CBL):c.1231_1236del (p.Ser411_Glu412del)
|
rs2135304373
|
|
NM_005188.4(CBL):c.1237G>A (p.Gly413Ser)
|
rs371679886
|
|
NM_005188.4(CBL):c.1238G>A (p.Gly413Asp)
|
rs2135304402
|
|
NM_005188.4(CBL):c.1243G>A (p.Gly415Ser)
|
rs756530482
|
|
NM_005188.4(CBL):c.1246T>A (p.Cys416Ser)
|
rs1949907918
|
|
NM_005188.4(CBL):c.1246T>C (p.Cys416Arg)
|
|
|
NM_005188.4(CBL):c.1247G>A (p.Cys416Tyr)
|
|
|
NM_005188.4(CBL):c.1247G>C (p.Cys416Ser)
|
rs757456261
|
|
NM_005188.4(CBL):c.1248T>C (p.Cys416=)
|
|
|
NM_005188.4(CBL):c.1250C>G (p.Pro417Arg)
|
|
|
NM_005188.4(CBL):c.1253T>C (p.Phe418Ser)
|
rs772156285
|
|
NM_005188.4(CBL):c.1254C>G (p.Phe418Leu)
|
|
|
NM_005188.4(CBL):c.1254C>T (p.Phe418=)
|
rs2135304448
|
|
NM_005188.4(CBL):c.1256G>A (p.Cys419Tyr)
|
|
|
NM_005188.4(CBL):c.1258C>G (p.Arg420Gly)
|
|
|
NM_005188.4(CBL):c.1259G>C (p.Arg420Pro)
|
|
|
NM_005188.4(CBL):c.1259G>T (p.Arg420Leu)
|
rs267606708
|
|
NM_005188.4(CBL):c.1263T>G (p.Cys421Trp)
|
rs1592401139
|
|
NM_005188.4(CBL):c.1274G>A (p.Gly425Asp)
|
rs1949908282
|
|
NM_005188.4(CBL):c.1278T>A (p.Thr426=)
|
|
|
NM_005188.4(CBL):c.1286T>A (p.Ile429Asn)
|
|
|
NM_005188.4(CBL):c.1290G>A (p.Val430=)
|
rs1060503996
|
|
NM_005188.4(CBL):c.1296T>C (p.Asp432=)
|
rs1188095865
|
|
NM_005188.4(CBL):c.1298C>A (p.Pro433Gln)
|
rs140627020
|
|
NM_005188.4(CBL):c.1299G>C (p.Pro433=)
|
|
|
NM_005188.4(CBL):c.1299G>T (p.Pro433=)
|
|
|
NM_005188.4(CBL):c.1306C>T (p.Pro436Ser)
|
|
|
NM_005188.4(CBL):c.1319G>T (p.Gly440Val)
|
rs757570929
|
|
NM_005188.4(CBL):c.1321A>C (p.Ser441Arg)
|
|
|
NM_005188.4(CBL):c.1322G>T (p.Ser441Ile)
|
|
|
NM_005188.4(CBL):c.1323C>T (p.Ser441=)
|
rs1044787155
|
|
NM_005188.4(CBL):c.1327T>C (p.Leu443=)
|
|
|
NM_005188.4(CBL):c.1346del (p.Gly449fs)
|
rs1592401235
|
|
NM_005188.4(CBL):c.1349C>T (p.Ala450Val)
|
|
|
NM_005188.4(CBL):c.1351C>G (p.Pro451Ala)
|
rs886041313
|
|
NM_005188.4(CBL):c.1361A>G (p.Asn454Ser)
|
rs2135304767
|
|
NM_005188.4(CBL):c.1363T>G (p.Tyr455Asp)
|
|
|
NM_005188.4(CBL):c.1365T>C (p.Tyr455=)
|
rs749044865
|
|
NM_005188.4(CBL):c.1365TGA[3] (p.Asp458_Asp460del)
|
|
|
NM_005188.4(CBL):c.1365TGA[5] (p.Asp460del)
|
rs397507494
|
|
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup)
|
rs397507494
|
|
NM_005188.4(CBL):c.1380T>C (p.Asp460=)
|
rs2135304809
|
|
NM_005188.4(CBL):c.1384C>T (p.Arg462Ter)
|
rs886041425
|
|
NM_005188.4(CBL):c.1385G>A (p.Arg462Gln)
|
|
|
NM_005188.4(CBL):c.1393G>A (p.Asp465Asn)
|
rs2135304845
|
|
NM_005188.4(CBL):c.1395T>C (p.Asp465=)
|
|
|
NM_005188.4(CBL):c.1400T>C (p.Leu467Pro)
|
rs1385198964
|
|
NM_005188.4(CBL):c.1401C>A (p.Leu467=)
|
|
|
NM_005188.4(CBL):c.1401_1402del (p.Phe468fs)
|
rs2135304862
|
|
NM_005188.4(CBL):c.1406T>C (p.Met469Thr)
|
|
|
NM_005188.4(CBL):c.1431+10C>T
|
|
|
NM_005188.4(CBL):c.1431+15T>C
|
|
|
NM_005188.4(CBL):c.1431+17G>A
|
rs1949909892
|
|
NM_005188.4(CBL):c.1431+6A>G
|
|
|
NM_005188.4(CBL):c.1432-12del
|
|
|
NM_005188.4(CBL):c.1432-5C>G
|
|
|
NM_005188.4(CBL):c.1432-7A>G
|
rs1349100855
|
|
NM_005188.4(CBL):c.1432-9G>T
|
|
|
NM_005188.4(CBL):c.1434G>T (p.Val478=)
|
rs374936250
|
|
NM_005188.4(CBL):c.1435G>T (p.Glu479Ter)
|
|
|
NM_005188.4(CBL):c.1436A>T (p.Glu479Val)
|
|
|
NM_005188.4(CBL):c.1442C>T (p.Pro481Leu)
|
|
|
NM_005188.4(CBL):c.1443G>A (p.Pro481=)
|
rs768111719
|
|
NM_005188.4(CBL):c.1452A>G (p.Pro484=)
|
|
|
NM_005188.4(CBL):c.1457C>T (p.Ser486Phe)
|
|
|
NM_005188.4(CBL):c.1463C>A (p.Ala488Asp)
|
|
|
NM_005188.4(CBL):c.1464C>T (p.Ala488=)
|
rs766521315
|
|
NM_005188.4(CBL):c.1466dup (p.Gln490fs)
|
|
|
NM_005188.4(CBL):c.1471G>A (p.Ala491Thr)
|
|
|
NM_005188.4(CBL):c.1480C>G (p.Pro494Ala)
|
|
|
NM_005188.4(CBL):c.1484C>A (p.Pro495Gln)
|
|
|
NM_005188.4(CBL):c.1484del (p.Pro495fs)
|
rs2135310015
|
|
NM_005188.4(CBL):c.1496G>A (p.Arg499Gln)
|
rs1949969900
|
|
NM_005188.4(CBL):c.1499T>C (p.Leu500Pro)
|
|
|
NM_005188.4(CBL):c.1504C>T (p.Leu502Phe)
|
|
|
NM_005188.4(CBL):c.1507C>T (p.Leu503=)
|
rs1592405051
|
|
NM_005188.4(CBL):c.1512G>T (p.Pro504=)
|
rs758285751
|
|
NM_005188.4(CBL):c.1517G>A (p.Arg506Gln)
|
|
|
NM_005188.4(CBL):c.1521A>T (p.Val507=)
|
|
|
NM_005188.4(CBL):c.1523G>A (p.Cys508Tyr)
|
|
|
NM_005188.4(CBL):c.1523G>C (p.Cys508Ser)
|
rs2135310108
|
|
NM_005188.4(CBL):c.1527_1528delinsCT (p.Pro510Ser)
|
|
|
NM_005188.4(CBL):c.1530C>T (p.Pro510=)
|
|
|
NM_005188.4(CBL):c.1534del (p.Ser512fs)
|
|
|
NM_005188.4(CBL):c.1537G>A (p.Ala513Thr)
|
rs200442365
|
|
NM_005188.4(CBL):c.1538C>T (p.Ala513Val)
|
rs1949970576
|
|
NM_005188.4(CBL):c.1543G>C (p.Ala515Pro)
|
rs1171133734
|
|
NM_005188.4(CBL):c.1547T>C (p.Leu516Pro)
|
|
|
NM_005188.4(CBL):c.1554T>A (p.Thr518=)
|
|
|
NM_005188.4(CBL):c.1561A>G (p.Lys521Glu)
|
|
|
NM_005188.4(CBL):c.1562A>T (p.Lys521Met)
|
|
|
NM_005188.4(CBL):c.1563+11_1563+17del
|
|
|
NM_005188.4(CBL):c.1563+14C>T
|
|
|
NM_005188.4(CBL):c.1563+15A>G
|
|
|
NM_005188.4(CBL):c.1563+19C>T
|
|
|
NM_005188.4(CBL):c.1563+1G>A
|
|
|
NM_005188.4(CBL):c.1563+22_1563+30del
|
|
|
NM_005188.4(CBL):c.1564-11T>G
|
|
|
NM_005188.4(CBL):c.1564-12C>T
|
|
|
NM_005188.4(CBL):c.1564-13_1564-3del
|
rs759801355
|
|
NM_005188.4(CBL):c.1564-16C>T
|
rs992126448
|
|
NM_005188.4(CBL):c.1564-20C>T
|
rs2135310240
|
|
NM_005188.4(CBL):c.1564-3C>T
|
rs1555230585
|
|
NM_005188.4(CBL):c.1570T>G (p.Ser524Ala)
|
|
|
NM_005188.4(CBL):c.1579C>T (p.Leu527Phe)
|
|
|
NM_005188.4(CBL):c.1581T>C (p.Leu527=)
|
|
|
NM_005188.4(CBL):c.1585A>G (p.Lys529Glu)
|
|
|
NM_005188.4(CBL):c.1596A>G (p.Pro532=)
|
|
|
NM_005188.4(CBL):c.1598T>C (p.Leu533Ser)
|
|
|
NM_005188.4(CBL):c.1598dup (p.Leu533fs)
|
|
|
NM_005188.4(CBL):c.1611C>T (p.Pro537=)
|
rs1258105653
|
|
NM_005188.4(CBL):c.1614A>G (p.Thr538=)
|
rs1408642074
|
|
NM_005188.4(CBL):c.1618C>T (p.Arg540Ter)
|
rs764340189
|
|
NM_005188.4(CBL):c.1619G>A (p.Arg540Gln)
|
rs980503623
|
|
NM_005188.4(CBL):c.1622A>G (p.Asp541Gly)
|
|
|
NM_005188.4(CBL):c.1629A>G (p.Pro543=)
|
rs558577411
|
|
NM_005188.4(CBL):c.1630C>T (p.Pro544Ser)
|
|
|
NM_005188.4(CBL):c.1633C>G (p.Pro545Ala)
|
|
|
NM_005188.4(CBL):c.1633C>T (p.Pro545Ser)
|
|
|
NM_005188.4(CBL):c.1634C>A (p.Pro545Gln)
|
rs1949973481
|
|
NM_005188.4(CBL):c.1634C>T (p.Pro545Leu)
|
rs1949973481
|
|
NM_005188.4(CBL):c.1655A>G (p.Tyr552Cys)
|
|
|
NM_005188.4(CBL):c.1675C>G (p.Arg559Gly)
|
rs779425249
|
|
NM_005188.4(CBL):c.1676G>A (p.Arg559Gln)
|
rs143034856
|
|
NM_005188.4(CBL):c.1696C>A (p.Pro566Thr)
|
|
|
NM_005188.4(CBL):c.1697C>G (p.Pro566Arg)
|
rs1428398685
|
|
NM_005188.4(CBL):c.1699_1701dup (p.Cys567_Thr568insCys)
|
|
|
NM_005188.4(CBL):c.1700G>A (p.Cys567Tyr)
|
rs1949974480
|
|
NM_005188.4(CBL):c.1710C>T (p.Gly570=)
|
|
|
NM_005188.4(CBL):c.1711G>A (p.Asp571Asn)
|
rs483352825
|
|
NM_005188.4(CBL):c.1717C>T (p.Pro573Ser)
|
|
|
NM_005188.4(CBL):c.1729A>G (p.Lys577Glu)
|
|
|
NM_005188.4(CBL):c.1732dup (p.Leu578fs)
|
rs1949974996
|
|
NM_005188.4(CBL):c.1733T>C (p.Leu578Pro)
|
rs776651600
|
|
NM_005188.4(CBL):c.1735C>G (p.Pro579Ala)
|
rs752260506
|
|
NM_005188.4(CBL):c.1737C>T (p.Pro579=)
|
|
|
NM_005188.4(CBL):c.1742T>G (p.Val581Gly)
|
|
|
NM_005188.4(CBL):c.1743C>T (p.Val581=)
|
rs570668705
|
|
NM_005188.4(CBL):c.1744C>A (p.Pro582Thr)
|
rs2135310666
|
|
NM_005188.4(CBL):c.1745C>T (p.Pro582Leu)
|
rs1949975295
|
|
NM_005188.4(CBL):c.1746C>T (p.Pro582=)
|
|
|
NM_005188.4(CBL):c.1749T>C (p.Ser583=)
|
|
|
NM_005188.4(CBL):c.1754G>A (p.Arg585His)
|
rs727504640
|
|
NM_005188.4(CBL):c.1754G>C (p.Arg585Pro)
|
|
|
NM_005188.4(CBL):c.1754G>T (p.Arg585Leu)
|
rs727504640
|
|
NM_005188.4(CBL):c.1757T>C (p.Leu586Pro)
|
|
|
NM_005188.4(CBL):c.1758T>C (p.Leu586=)
|
|
|
NM_005188.4(CBL):c.1765T>C (p.Ser589Pro)
|
rs1555230612
|
|
NM_005188.4(CBL):c.1768T>G (p.Trp590Gly)
|
|
|
NM_005188.4(CBL):c.1769G>C (p.Trp590Ser)
|
|
|
NM_005188.4(CBL):c.1771C>G (p.Leu591Val)
|
rs1060500679
|
|
NM_005188.4(CBL):c.1773G>T (p.Leu591=)
|
rs148474386
|
|
NM_005188.4(CBL):c.1778G>A (p.Arg593Gln)
|
rs730880435
|
|
NM_005188.4(CBL):c.1781C>T (p.Pro594Leu)
|
|
|
NM_005188.4(CBL):c.1789A>G (p.Lys597Glu)
|
rs1949976299
|
|
NM_005188.4(CBL):c.1790A>G (p.Lys597Arg)
|
rs1363189852
|
|
NM_005188.4(CBL):c.1792G>A (p.Val598Ile)
|
|
|
NM_005188.4(CBL):c.1793T>A (p.Val598Glu)
|
rs1060500675
|
|
NM_005188.4(CBL):c.1795C>A (p.Pro599Thr)
|
rs1340017837
|
|
NM_005188.4(CBL):c.1795C>G (p.Pro599Ala)
|
rs1340017837
|
|
NM_005188.4(CBL):c.1797A>G (p.Pro599=)
|
|
|
NM_005188.4(CBL):c.1801T>C (p.Ser601Pro)
|
rs1271364778
|
|
NM_005188.4(CBL):c.1810A>G (p.Ser604Gly)
|
rs1555230616
|
|
NM_005188.4(CBL):c.1816A>G (p.Ser606Gly)
|
|
|
NM_005188.4(CBL):c.1818T>A (p.Ser606Arg)
|
|
|
NM_005188.4(CBL):c.1821T>A (p.Asp607Glu)
|
rs2135310845
|
|
NM_005188.4(CBL):c.1822C>T (p.Pro608Ser)
|
rs763666786
|
|
NM_005188.4(CBL):c.1823C>A (p.Pro608His)
|
rs397507495
|
|
NM_005188.4(CBL):c.1831G>C (p.Gly611Arg)
|
|
|
NM_005188.4(CBL):c.1834A>G (p.Arg612Gly)
|
|
|
NM_005188.4(CBL):c.1837G>T (p.Glu613Ter)
|
|
|
NM_005188.4(CBL):c.1847A>C (p.Asn616Thr)
|
rs376094293
|
|
NM_005188.4(CBL):c.1847A>G (p.Asn616Ser)
|
|
|
NM_005188.4(CBL):c.1847A>T (p.Asn616Ile)
|
|
|
NM_005188.4(CBL):c.1850G>A (p.Arg617Gln)
|
rs780457588
|
|
NM_005188.4(CBL):c.1850G>T (p.Arg617Leu)
|
rs780457588
|
|
NM_005188.4(CBL):c.1857A>T (p.Ser619=)
|
|
|
NM_005188.4(CBL):c.1858C>G (p.Leu620Val)
|
|
|
NM_005188.4(CBL):c.1862C>T (p.Pro621Leu)
|
rs1334315007
|
|
NM_005188.4(CBL):c.1870T>C (p.Leu624=)
|
rs981306664
|
|
NM_005188.4(CBL):c.1872G>T (p.Leu624Phe)
|
|
|
NM_005188.4(CBL):c.1875C>T (p.Pro625=)
|
|
|
NM_005188.4(CBL):c.1878A>G (p.Ser626=)
|
|
|
NM_005188.4(CBL):c.1905T>C (p.Pro635=)
|
|
|
NM_005188.4(CBL):c.1911C>G (p.Leu637=)
|
rs552760421
|
|
NM_005188.4(CBL):c.1912G>A (p.Gly638Arg)
|
|
|
NM_005188.4(CBL):c.1914A>G (p.Gly638=)
|
rs2135310998
|
|
NM_005188.4(CBL):c.1915A>G (p.Ser639Gly)
|
|
|
NM_005188.4(CBL):c.1917C>G (p.Ser639Arg)
|
|
|
NM_005188.4(CBL):c.1919C>T (p.Thr640Met)
|
|
|
NM_005188.4(CBL):c.1925G>A (p.Ser642Asn)
|
rs571045498
|
|
NM_005188.4(CBL):c.1928T>C (p.Leu643Pro)
|
|
|
NM_005188.4(CBL):c.192C>A (p.Asp64Glu)
|
|
|
NM_005188.4(CBL):c.192C>G (p.Asp64Glu)
|
rs1565851628
|
|
NM_005188.4(CBL):c.1934C>T (p.Thr645Ile)
|
|
|
NM_005188.4(CBL):c.1935C>T (p.Thr645=)
|
|
|
NM_005188.4(CBL):c.1937C>T (p.Ser646Phe)
|
|
|
NM_005188.4(CBL):c.1941+10A>C
|
rs1238672363
|
|
NM_005188.4(CBL):c.1941+23_1941+26del
|
rs1949978831
|
|
NM_005188.4(CBL):c.1941+2T>G
|
|
|
NM_005188.4(CBL):c.1941+4A>C
|
|
|
NM_005188.4(CBL):c.1942-14T>G
|
rs2135312850
|
|
NM_005188.4(CBL):c.1942-16T>C
|
|
|
NM_005188.4(CBL):c.1942-18C>T
|
|
|
NM_005188.4(CBL):c.1942-19A>G
|
|
|
NM_005188.4(CBL):c.1942-20C>T
|
|
|
NM_005188.4(CBL):c.1942-7T>C
|
|
|
NM_005188.4(CBL):c.1945A>G (p.Met649Val)
|
rs769423231
|
|
NM_005188.4(CBL):c.1949_1951del (p.Asn650del)
|
|
|
NM_005188.4(CBL):c.195+12G>C
|
rs1040283004
|
|
NM_005188.4(CBL):c.195+12_195+13delinsTT
|
rs1949271281
|
|
NM_005188.4(CBL):c.195+17G>A
|
|
|
NM_005188.4(CBL):c.195+17del
|
|
|
NM_005188.4(CBL):c.195+18C>T
|
rs2135244298
|
|
NM_005188.4(CBL):c.195+19G>T
|
|
|
NM_005188.4(CBL):c.195+5A>G
|
rs1949271201
|
|
NM_005188.4(CBL):c.1951A>G (p.Ser651Gly)
|
|
|
NM_005188.4(CBL):c.1953C>A (p.Ser651Arg)
|
|
|
NM_005188.4(CBL):c.1954A>C (p.Ser652Arg)
|
rs1055456727
|
|
NM_005188.4(CBL):c.1956C>T (p.Ser652=)
|
|
|
NM_005188.4(CBL):c.1957C>T (p.Pro653Ser)
|
rs1591265497
|
|
NM_005188.4(CBL):c.1958C>T (p.Pro653Leu)
|
|
|
NM_005188.4(CBL):c.196-12C>G
|
rs2135266089
|
|
NM_005188.4(CBL):c.196-19T>C
|
rs2135266082
|
|
NM_005188.4(CBL):c.196-4G>A
|
|
|
NM_005188.4(CBL):c.196-6T>A
|
|
|
NM_005188.4(CBL):c.196-6T>C
|
|
|
NM_005188.4(CBL):c.1962A>T (p.Leu654Phe)
|
rs727502915
|
|
NM_005188.4(CBL):c.1965A>G (p.Val655=)
|
|
|
NM_005188.4(CBL):c.196G>A (p.Val66Met)
|
|
|
NM_005188.4(CBL):c.1980C>T (p.Asp660=)
|
|
|
NM_005188.4(CBL):c.1991T>C (p.Ile664Thr)
|
rs397507496
|
|
NM_005188.4(CBL):c.2004A>G (p.Ser668=)
|
|
|
NM_005188.4(CBL):c.2009C>T (p.Ala670Val)
|
|
|
NM_005188.4(CBL):c.2015C>A (p.Ala672Asp)
|
|
|
NM_005188.4(CBL):c.2017A>G (p.Ile673Val)
|
rs1439055502
|
|
NM_005188.4(CBL):c.201G>A (p.Val67=)
|
rs1195793980
|
|
NM_005188.4(CBL):c.2021A>G (p.Tyr674Cys)
|
rs768160029
|
|
NM_005188.4(CBL):c.2024C>A (p.Ser675Tyr)
|
|
|
NM_005188.4(CBL):c.2025T>C (p.Ser675=)
|
rs2135312966
|
|
NM_005188.4(CBL):c.2031T>C (p.Ala677=)
|
|
|
NM_005188.4(CBL):c.2036+10C>G
|
|
|
NM_005188.4(CBL):c.2036+14A>C
|
|
|
NM_005188.4(CBL):c.2036+17T>C
|
|
|
NM_005188.4(CBL):c.2037-16A>C
|
|
|
NM_005188.4(CBL):c.2037-17T>G
|
rs2135319753
|
|
NM_005188.4(CBL):c.2037-4C>T
|
|
|
NM_005188.4(CBL):c.2037-9A>C
|
rs1591269676
|
|
NM_005188.4(CBL):c.2041_2044inv (p.Leu681_Pro682delinsGluAla)
|
|
|
NM_005188.4(CBL):c.2047G>A (p.Val683Met)
|
rs2135319783
|
|
NM_005188.4(CBL):c.2049G>A (p.Val683=)
|
rs1950067375
|
|
NM_005188.4(CBL):c.204G>T (p.Arg68=)
|
rs1193552867
|
|
NM_005188.4(CBL):c.2050C>T (p.Pro684Ser)
|
rs587778154
|
|
NM_005188.4(CBL):c.2052A>C (p.Pro684=)
|
rs886047771
|
|
NM_005188.4(CBL):c.2053A>C (p.Lys685Gln)
|
rs1555027603
|
|
NM_005188.4(CBL):c.2056C>G (p.Leu686Val)
|
|
|
NM_005188.4(CBL):c.2063C>G (p.Pro688Arg)
|
|
|
NM_005188.4(CBL):c.2065G>T (p.Gly689Trp)
|
|
|
NM_005188.4(CBL):c.2069A>T (p.Glu690Val)
|
|
|
NM_005188.4(CBL):c.206T>C (p.Leu69Ser)
|
|
|
NM_005188.4(CBL):c.2077G>A (p.Glu693Lys)
|
rs587778156
|
|
NM_005188.4(CBL):c.2093C>A (p.Thr698Lys)
|
rs1565272125
|
|
NM_005188.4(CBL):c.2095G>A (p.Glu699Lys)
|
|
|
NM_005188.4(CBL):c.2097G>C (p.Glu699Asp)
|
rs1057519031
|
|
NM_005188.4(CBL):c.2100C>A (p.Tyr700Ter)
|
|
|
NM_005188.4(CBL):c.2106T>C (p.Thr702=)
|
|
|
NM_005188.4(CBL):c.2107C>T (p.Pro703Ser)
|
|
|
NM_005188.4(CBL):c.2116A>T (p.Arg706Trp)
|
|
|
NM_005188.4(CBL):c.2118G>A (p.Arg706=)
|
rs1950068296
|
|
NM_005188.4(CBL):c.2120C>G (p.Pro707Arg)
|
rs576175174
|
|
NM_005188.4(CBL):c.2120C>T (p.Pro707Leu)
|
|
|
NM_005188.4(CBL):c.2122C>T (p.Leu708=)
|
|
|
NM_005188.4(CBL):c.2124A>G (p.Leu708=)
|
|
|
NM_005188.4(CBL):c.2135A>G (p.Asp712Gly)
|
|
|
NM_005188.4(CBL):c.213_214del (p.Asn72fs)
|
|
|
NM_005188.4(CBL):c.2144A>C (p.Gln715Pro)
|
|
|
NM_005188.4(CBL):c.2146A>G (p.Ser716Gly)
|
|
|
NM_005188.4(CBL):c.2152C>T (p.Arg718Ter)
|
|
|
NM_005188.4(CBL):c.2153+12A>G
|
|
|
NM_005188.4(CBL):c.2153+14A>C
|
|
|
NM_005188.4(CBL):c.2153+18C>G
|
|
|
NM_005188.4(CBL):c.2153+5G>C
|
|
|
NM_005188.4(CBL):c.2154-12C>G
|
|
|
NM_005188.4(CBL):c.2154-13C>A
|
rs748969942
|
|
NM_005188.4(CBL):c.2154-13C>G
|
|
|
NM_005188.4(CBL):c.2154-14T>C
|
rs1950071352
|
|
NM_005188.4(CBL):c.2154-14dup
|
|
|
NM_005188.4(CBL):c.2154-7G>C
|
rs2135320148
|
|
NM_005188.4(CBL):c.2155G>T (p.Ala719Ser)
|
|
|
NM_005188.4(CBL):c.2157A>G (p.Ala719=)
|
|
|
NM_005188.4(CBL):c.2161G>T (p.Asp721Tyr)
|
|
|
NM_005188.4(CBL):c.2164T>G (p.Cys722Gly)
|
|
|
NM_005188.4(CBL):c.2166C>T (p.Cys722=)
|
|
|
NM_005188.4(CBL):c.2167G>A (p.Asp723Asn)
|
|
|
NM_005188.4(CBL):c.2172G>A (p.Gln724=)
|
|
|
NM_005188.4(CBL):c.2177T>C (p.Ile726Thr)
|
|
|
NM_005188.4(CBL):c.2180A>G (p.Asp727Gly)
|
|
|
NM_005188.4(CBL):c.2190G>A (p.Thr730=)
|
rs143840974
|
|
NM_005188.4(CBL):c.2192A>G (p.Tyr731Cys)
|
rs1212670088
|
|
NM_005188.4(CBL):c.2201T>C (p.Met734Thr)
|
|
|
NM_005188.4(CBL):c.2202_2203dup (p.Tyr735fs)
|
|
|
NM_005188.4(CBL):c.2212C>G (p.Gln738Glu)
|
|
|
NM_005188.4(CBL):c.2228C>G (p.Ser743Cys)
|
|
|
NM_005188.4(CBL):c.2231T>G (p.Ile744Ser)
|
|
|
NM_005188.4(CBL):c.2232C>G (p.Ile744Met)
|
|
|
NM_005188.4(CBL):c.2236G>A (p.Glu746Lys)
|
|
|
NM_005188.4(CBL):c.223C>G (p.Leu75Val)
|
|
|
NM_005188.4(CBL):c.2249_2251dup (p.Phe750_Gly751insVal)
|
rs1950072398
|
|
NM_005188.4(CBL):c.2251+13T>G
|
|
|
NM_005188.4(CBL):c.2251+14_2251+22del
|
rs568433114
|
|
NM_005188.4(CBL):c.2251+14del
|
|
|
NM_005188.4(CBL):c.2251+16G>A
|
|
|
NM_005188.4(CBL):c.2251+19A>G
|
rs1398869837
|
|
NM_005188.4(CBL):c.2251+6T>A
|
|
|
NM_005188.4(CBL):c.2251+8G>T
|
|
|
NM_005188.4(CBL):c.2251+9C>A
|
rs1439660465
|
|
NM_005188.4(CBL):c.2252-12A>G
|
|
|
NM_005188.4(CBL):c.2252-12A>T
|
|
|
NM_005188.4(CBL):c.2252-13C>T
|
|
|
NM_005188.4(CBL):c.2252-15C>T
|
|
|
NM_005188.4(CBL):c.2252-17C>G
|
|
|
NM_005188.4(CBL):c.2252-18_2252-16del
|
|
|
NM_005188.4(CBL):c.2252-19A>G
|
|
|
NM_005188.4(CBL):c.2252-19A>T
|
|
|
NM_005188.4(CBL):c.2252-2A>G
|
rs1950077587
|
|
NM_005188.4(CBL):c.2252G>C (p.Gly751Ala)
|
|
|
NM_005188.4(CBL):c.2252G>T (p.Gly751Val)
|
rs2135320929
|
|
NM_005188.4(CBL):c.2253T>G (p.Gly751=)
|
rs2135320931
|
|
NM_005188.4(CBL):c.2259G>A (p.Gly753=)
|
rs1591270443
|
|
NM_005188.4(CBL):c.2259G>C (p.Gly753=)
|
rs1591270443
|
|
NM_005188.4(CBL):c.2260A>G (p.Asn754Asp)
|
|
|
NM_005188.4(CBL):c.2263T>C (p.Leu755=)
|
rs2135320946
|
|
NM_005188.4(CBL):c.2266G>T (p.Ala756Ser)
|
|
|
NM_005188.4(CBL):c.226G>A (p.Ala76Thr)
|
rs1483168332
|
|
NM_005188.4(CBL):c.2270C>T (p.Ala757Val)
|
rs1489560722
|
|
NM_005188.4(CBL):c.2273C>T (p.Ala758Val)
|
|
|
NM_005188.4(CBL):c.227C>A (p.Ala76Glu)
|
rs757898729
|
|
NM_005188.4(CBL):c.2282A>G (p.Asn761Ser)
|
|
|
NM_005188.4(CBL):c.2283C>T (p.Asn761=)
|
|
|
NM_005188.4(CBL):c.2284A>G (p.Thr762Ala)
|
|
|
NM_005188.4(CBL):c.2285C>G (p.Thr762Ser)
|
|
|
NM_005188.4(CBL):c.228G>A (p.Ala76=)
|
rs2135266151
|
|
NM_005188.4(CBL):c.2291C>G (p.Pro764Arg)
|
|
|
NM_005188.4(CBL):c.2293G>A (p.Glu765Lys)
|
|
|
NM_005188.4(CBL):c.2300C>T (p.Ser767Leu)
|
|
|
NM_005188.4(CBL):c.2307T>C (p.Asn769=)
|
|
|
NM_005188.4(CBL):c.2309A>G (p.Glu770Gly)
|
|
|
NM_005188.4(CBL):c.2310G>A (p.Glu770=)
|
|
|
NM_005188.4(CBL):c.2314G>A (p.Asp772Asn)
|
rs1950078039
|
|
NM_005188.4(CBL):c.2315A>T (p.Asp772Val)
|
rs2135321028
|
|
NM_005188.4(CBL):c.231A>G (p.Leu77=)
|
rs2135266156
|
|
NM_005188.4(CBL):c.2337A>G (p.Pro779=)
|
rs1042340033
|
|
NM_005188.4(CBL):c.2338C>T (p.Pro780Ser)
|
rs1555027886
|
|
NM_005188.4(CBL):c.2341G>C (p.Val781Leu)
|
|
|
NM_005188.4(CBL):c.2347G>T (p.Ala783Ser)
|
|
|
NM_005188.4(CBL):c.2349C>A (p.Ala783=)
|
rs552509693
|
|
NM_005188.4(CBL):c.2350G>C (p.Val784Leu)
|
rs140725852
|
|
NM_005188.4(CBL):c.2356del (p.Ala786fs)
|
|
|
NM_005188.4(CBL):c.2357C>T (p.Ala786Val)
|
|
|
NM_005188.4(CBL):c.235A>G (p.Asn79Asp)
|
|
|
NM_005188.4(CBL):c.2363G>C (p.Arg788Pro)
|
|
|
NM_005188.4(CBL):c.2369T>A (p.Leu790His)
|
rs1950078661
|
|
NM_005188.4(CBL):c.2370C>T (p.Leu790=)
|
|
|
NM_005188.4(CBL):c.2377A>G (p.Ile793Val)
|
|
|
NM_005188.4(CBL):c.2378T>C (p.Ile793Thr)
|
|
|
NM_005188.4(CBL):c.2381C>G (p.Ser794Cys)
|
|
|
NM_005188.4(CBL):c.2381C>T (p.Ser794Phe)
|
rs201620100
|
|
NM_005188.4(CBL):c.2388C>T (p.Ala796=)
|
|
|
NM_005188.4(CBL):c.2389A>G (p.Ser797Gly)
|
|
|
NM_005188.4(CBL):c.2390G>A (p.Ser797Asn)
|
|
|
NM_005188.4(CBL):c.2393CCT[1] (p.Ser799del)
|
rs755938138
|
|
NM_005188.4(CBL):c.2394C>T (p.Ser798=)
|
rs773256658
|
|
NM_005188.4(CBL):c.2396C>T (p.Ser799Phe)
|
|
|
NM_005188.4(CBL):c.2399T>G (p.Phe800Cys)
|
rs1285510326
|
|
NM_005188.4(CBL):c.239G>A (p.Ser80Asn)
|
|
|
NM_005188.4(CBL):c.2404T>A (p.Trp802Arg)
|
rs2135321282
|
|
NM_005188.4(CBL):c.2406G>A (p.Trp802Ter)
|
|
|
NM_005188.4(CBL):c.2408T>C (p.Leu803Ser)
|
rs2135321296
|
|
NM_005188.4(CBL):c.2413C>G (p.Leu805Val)
|
rs1950079119
|
|
NM_005188.4(CBL):c.2418T>G (p.Asp806Glu)
|
|
|
NM_005188.4(CBL):c.2420G>A (p.Gly807Asp)
|
|
|
NM_005188.4(CBL):c.2428A>G (p.Thr810Ala)
|
|
|
NM_005188.4(CBL):c.2429CAA[1] (p.Thr811del)
|
|
|
NM_005188.4(CBL):c.2432C>A (p.Thr811Lys)
|
|
|
NM_005188.4(CBL):c.2434+12G>A
|
|
|
NM_005188.4(CBL):c.2434+13A>G
|
rs2135321355
|
|
NM_005188.4(CBL):c.2434+18T>C
|
|
|
NM_005188.4(CBL):c.2434+19T>C
|
rs1040579282
|
|
NM_005188.4(CBL):c.2434+2T>A
|
|
|
NM_005188.4(CBL):c.2434+3G>A
|
rs2135321343
|
|
NM_005188.4(CBL):c.2434A>G (p.Asn812Asp)
|
rs907398440
|
|
NM_005188.4(CBL):c.2435-11A>G
|
|
|
NM_005188.4(CBL):c.2435-13C>A
|
|
|
NM_005188.4(CBL):c.2435-13C>T
|
|
|
NM_005188.4(CBL):c.2435-14C>G
|
rs2135321973
|
|
NM_005188.4(CBL):c.2435-14C>T
|
|
|
NM_005188.4(CBL):c.2435-18C>T
|
rs2135321969
|
|
NM_005188.4(CBL):c.2435-1_2435del
|
rs749424087
|
|
NM_005188.4(CBL):c.2435-7C>A
|
|
|
NM_005188.4(CBL):c.2435-8del
|
|
|
NM_005188.4(CBL):c.2435-9T>C
|
|
|
NM_005188.4(CBL):c.2442T>C (p.Thr814=)
|
rs2135321991
|
|
NM_005188.4(CBL):c.2443G>A (p.Glu815Lys)
|
|
|
NM_005188.4(CBL):c.2452C>T (p.Gln818Ter)
|
|
|
NM_005188.4(CBL):c.2453A>C (p.Gln818Pro)
|
|
|
NM_005188.4(CBL):c.2458C>T (p.Pro820Ser)
|
|
|
NM_005188.4(CBL):c.2467C>T (p.Pro823Ser)
|
|
|
NM_005188.4(CBL):c.2470C>T (p.Pro824Ser)
|
|
|
NM_005188.4(CBL):c.2471C>T (p.Pro824Leu)
|
rs2135322034
|
|
NM_005188.4(CBL):c.2483C>T (p.Pro828Leu)
|
|
|
NM_005188.4(CBL):c.248A>G (p.Tyr83Cys)
|
rs1555226659
|
|
NM_005188.4(CBL):c.2494_2495del (p.Asn832fs)
|
|
|
NM_005188.4(CBL):c.2502A>T (p.Glu834Asp)
|
rs1950085952
|
|
NM_005188.4(CBL):c.2504G>A (p.Arg835Gln)
|
rs1057518072
|
|
NM_005188.4(CBL):c.2509G>A (p.Ala837Thr)
|
rs1950086093
|
|
NM_005188.4(CBL):c.250A>G (p.Ile84Val)
|
|
|
NM_005188.4(CBL):c.2516G>C (p.Ser839Thr)
|
rs199771745
|
|
NM_005188.4(CBL):c.2517C>T (p.Ser839=)
|
rs2135322103
|
|
NM_005188.4(CBL):c.2519G>A (p.Cys840Tyr)
|
rs376536789
|
|
NM_005188.4(CBL):c.251T>C (p.Ile84Thr)
|
|
|
NM_005188.4(CBL):c.2530A>G (p.Ser844Gly)
|
|
|
NM_005188.4(CBL):c.2531G>A (p.Ser844Asn)
|
|
|
NM_005188.4(CBL):c.2536C>T (p.Pro846Ser)
|
|
|
NM_005188.4(CBL):c.253T>C (p.Leu85=)
|
rs2135266192
|
|
NM_005188.4(CBL):c.2542G>T (p.Ala848Ser)
|
|
|
NM_005188.4(CBL):c.2546C>T (p.Ser849Phe)
|
|
|
NM_005188.4(CBL):c.2551G>T (p.Ala851Ser)
|
|
|
NM_005188.4(CBL):c.2554A>C (p.Thr852Pro)
|
|
|
NM_005188.4(CBL):c.2558C>T (p.Ala853Val)
|
|
|
NM_005188.4(CBL):c.2559C>T (p.Ala853=)
|
|
|
NM_005188.4(CBL):c.2569_2574dup (p.Ser858_Ser859insLeuSer)
|
|
|
NM_005188.4(CBL):c.2571C>T (p.Leu857=)
|
|
|
NM_005188.4(CBL):c.2573C>G (p.Ser858Cys)
|
|
|
NM_005188.4(CBL):c.2573C>T (p.Ser858Phe)
|
rs2135322201
|
|
NM_005188.4(CBL):c.2579A>T (p.Glu860Val)
|
rs1950087188
|
|
NM_005188.4(CBL):c.2580G>A (p.Glu860=)
|
rs751908445
|
|
NM_005188.4(CBL):c.258C>T (p.Asp86=)
|
|
|
NM_005188.4(CBL):c.2590C>G (p.Leu864Val)
|
rs2135322234
|
|
NM_005188.4(CBL):c.2599C>T (p.Gln867Ter)
|
|
|
NM_005188.4(CBL):c.2600A>C (p.Gln867Pro)
|
|
|
NM_005188.4(CBL):c.2604G>A (p.Gly868=)
|
rs200774234
|
|
NM_005188.4(CBL):c.2607C>T (p.Tyr869=)
|
|
|
NM_005188.4(CBL):c.260T>A (p.Leu87Gln)
|
rs2135266203
|
|
NM_005188.4(CBL):c.2614C>G (p.Gln872Glu)
|
rs746795014
|
|
NM_005188.4(CBL):c.2622C>T (p.Ile874=)
|
|
|
NM_005188.4(CBL):c.2629G>C (p.Ala877Pro)
|
|
|
NM_005188.4(CBL):c.263T>C (p.Leu88Pro)
|
|
|
NM_005188.4(CBL):c.2642C>G (p.Ala881Gly)
|
|
|
NM_005188.4(CBL):c.2644C>A (p.Gln882Lys)
|
|
|
NM_005188.4(CBL):c.265C>T (p.Pro89Ser)
|
rs1949511407
|
|
NM_005188.4(CBL):c.2670C>T (p.Asn890=)
|
|
|
NM_005188.4(CBL):c.2684T>C (p.Phe895Ser)
|
|
|
NM_005188.4(CBL):c.2686G>A (p.Val896Ile)
|
rs2135322351
|
|
NM_005188.4(CBL):c.2687T>C (p.Val896Ala)
|
|
|
NM_005188.4(CBL):c.2694T>G (p.Ile898Met)
|
|
|
NM_005188.4(CBL):c.269A>G (p.Asp90Gly)
|
rs1555226661
|
|
NM_005188.4(CBL):c.2701_2703del (p.Pro901del)
|
|
|
NM_005188.4(CBL):c.2708A>G (p.His903Arg)
|
rs1950088762
|
|
NM_005188.4(CBL):c.2710_2711del (p.Val904fs)
|
|
|
NM_005188.4(CBL):c.2714C>A (p.Ala905Asp)
|
|
|
NM_005188.4(CBL):c.2715T>C (p.Ala905=)
|
rs2135322388
|
|
NM_005188.4(CBL):c.272C>A (p.Thr91Asn)
|
|
|
NM_005188.4(CBL):c.287G>A (p.Arg96His)
|
|
|
NM_005188.4(CBL):c.313A>C (p.Lys105Gln)
|
|
|
NM_005188.4(CBL):c.320A>C (p.Glu107Ala)
|
|
|
NM_005188.4(CBL):c.321G>A (p.Glu107=)
|
|
|
NM_005188.4(CBL):c.324A>G (p.Thr108=)
|
|
|
NM_005188.4(CBL):c.326T>C (p.Leu109Pro)
|
|
|
NM_005188.4(CBL):c.328G>A (p.Gly110Arg)
|
rs1565859798
|
|
NM_005188.4(CBL):c.337G>A (p.Glu113Lys)
|
|
|
NM_005188.4(CBL):c.338A>C (p.Glu113Ala)
|
|
|
NM_005188.4(CBL):c.345T>C (p.Phe115=)
|
rs1342206980
|
|
NM_005188.4(CBL):c.346A>G (p.Arg116Gly)
|
|
|
NM_005188.4(CBL):c.354T>C (p.Phe118=)
|
|
|
NM_005188.4(CBL):c.355A>G (p.Met119Val)
|
rs1173256276
|
|
NM_005188.4(CBL):c.357G>A (p.Met119Ile)
|
rs1490142046
|
|
NM_005188.4(CBL):c.357G>T (p.Met119Ile)
|
rs1490142046
|
|
NM_005188.4(CBL):c.367A>G (p.Met123Val)
|
rs1949512275
|
|
NM_005188.4(CBL):c.372G>C (p.Lys124Asn)
|
|
|
NM_005188.4(CBL):c.381G>A (p.Lys127=)
|
rs1949512395
|
|
NM_005188.4(CBL):c.383A>G (p.Gln128Arg)
|
|
|
NM_005188.4(CBL):c.385A>G (p.Thr129Ala)
|
|
|
NM_005188.4(CBL):c.394del (p.Leu132fs)
|
|
|
NM_005188.4(CBL):c.399C>T (p.Phe133=)
|
rs2135266372
|
|
NM_005188.4(CBL):c.401A>G (p.Lys134Arg)
|
rs2135266374
|
|
NM_005188.4(CBL):c.406G>A (p.Gly136Arg)
|
rs2135266379
|
|
NM_005188.4(CBL):c.419T>G (p.Met140Arg)
|
rs1555226684
|
|
NM_005188.4(CBL):c.420G>A (p.Met140Ile)
|
rs2135266393
|
|
NM_005188.4(CBL):c.421T>C (p.Tyr141His)
|
|
|
NM_005188.4(CBL):c.432T>C (p.Asn144=)
|
|
|
NM_005188.4(CBL):c.438G>C (p.Gln146His)
|
|
|
NM_005188.4(CBL):c.438G>T (p.Gln146His)
|
|
|
NM_005188.4(CBL):c.443+13del
|
|
|
NM_005188.4(CBL):c.443+16T>C
|
|
|
NM_005188.4(CBL):c.443+18C>T
|
|
|
NM_005188.4(CBL):c.443+9G>A
|
|
|
NM_005188.4(CBL):c.444-10T>C
|
|
|
NM_005188.4(CBL):c.444-14C>A
|
|
|
NM_005188.4(CBL):c.444-17A>C
|
|
|
NM_005188.4(CBL):c.444-18C>A
|
|
|
NM_005188.4(CBL):c.444-18C>T
|
rs879040078
|
|
NM_005188.4(CBL):c.444-20T>C
|
rs1238042752
|
|
NM_005188.4(CBL):c.444-3T>C
|
|
|
NM_005188.4(CBL):c.444-4G>T
|
rs1331093488
|
|
NM_005188.4(CBL):c.444-5del
|
|
|
NM_005188.4(CBL):c.444-9dup
|
rs1949850430
|
|
NM_005188.4(CBL):c.445C>T (p.Arg149Ter)
|
rs267602720
|
|
NM_005188.4(CBL):c.451C>T (p.Leu151=)
|
|
|
NM_005188.4(CBL):c.453A>C (p.Leu151=)
|
|
|
NM_005188.4(CBL):c.454A>C (p.Thr152Pro)
|
|
|
NM_005188.4(CBL):c.455C>A (p.Thr152Asn)
|
|
|
NM_005188.4(CBL):c.457A>G (p.Lys153Glu)
|
|
|
NM_005188.4(CBL):c.471C>G (p.Ile157Met)
|
|
|
NM_005188.4(CBL):c.473T>C (p.Phe158Ser)
|
rs2135297020
|
|
NM_005188.4(CBL):c.481A>C (p.Met161Leu)
|
|
|
NM_005188.4(CBL):c.482T>A (p.Met161Lys)
|
|
|
NM_005188.4(CBL):c.493C>G (p.Leu165Val)
|
rs1555229540
|
|
NM_005188.4(CBL):c.498A>C (p.Lys166Asn)
|
rs1565870421
|
|
NM_005188.4(CBL):c.519C>T (p.Leu173=)
|
rs1949851368
|
|
NM_005188.4(CBL):c.522T>G (p.Phe174Leu)
|
|
|
NM_005188.4(CBL):c.525G>A (p.Gln175=)
|
|
|
NM_005188.4(CBL):c.531C>T (p.Asp177=)
|
|
|
NM_005188.4(CBL):c.534A>G (p.Thr178=)
|
rs1346848498
|
|
NM_005188.4(CBL):c.538C>T (p.Arg180Trp)
|
|
|
NM_005188.4(CBL):c.546T>G (p.Thr182=)
|
|
|
NM_005188.4(CBL):c.549A>G (p.Lys183=)
|
|
|
NM_005188.4(CBL):c.550G>A (p.Ala184Thr)
|
|
|
NM_005188.4(CBL):c.561G>A (p.Ala187=)
|
|
|
NM_005188.4(CBL):c.582T>C (p.Phe194=)
|
rs1565870454
|
|
NM_005188.4(CBL):c.586dup (p.Glu196fs)
|
rs2135297170
|
|
NM_005188.4(CBL):c.590+12A>G
|
|
|
NM_005188.4(CBL):c.590+16A>C
|
rs2135297202
|
|
NM_005188.4(CBL):c.590+2T>G
|
|
|
NM_005188.4(CBL):c.590+3A>C
|
|
|
NM_005188.4(CBL):c.591-14C>T
|
|
|
NM_005188.4(CBL):c.591-17C>T
|
|
|
NM_005188.4(CBL):c.591-20C>T
|
|
|
NM_005188.4(CBL):c.591-3C>G
|
|
|
NM_005188.4(CBL):c.591-8C>G
|
rs749291716
|
|
NM_005188.4(CBL):c.591-8C>T
|
rs749291716
|
|
NM_005188.4(CBL):c.591-9C>A
|
|
|
NM_005188.4(CBL):c.591-9C>G
|
rs747041808
|
|
NM_005188.4(CBL):c.594A>T (p.Thr198=)
|
|
|
NM_005188.4(CBL):c.618A>G (p.Arg206=)
|
rs2135298754
|
|
NM_005188.4(CBL):c.619C>A (p.Gln207Lys)
|
|
|
NM_005188.4(CBL):c.627A>G (p.Leu209=)
|
rs1057524651
|
|
NM_005188.4(CBL):c.628C>G (p.His210Asp)
|
|
|
NM_005188.4(CBL):c.634G>A (p.Val212Met)
|
|
|
NM_005188.4(CBL):c.643A>G (p.Ile215Val)
|
|
|
NM_005188.4(CBL):c.646A>G (p.Ser216Gly)
|
|
|
NM_005188.4(CBL):c.650C>G (p.Ser217Cys)
|
|
|
NM_005188.4(CBL):c.650C>T (p.Ser217Phe)
|
|
|
NM_005188.4(CBL):c.656T>C (p.Leu219Pro)
|
rs895664191
|
|
NM_005188.4(CBL):c.664A>G (p.Met222Val)
|
|
|
NM_005188.4(CBL):c.665T>C (p.Met222Thr)
|
rs1057518053
|
|
NM_005188.4(CBL):c.672G>A (p.Leu224=)
|
rs2135298929
|
|
NM_005188.4(CBL):c.686A>G (p.Asp229Gly)
|
|
|
NM_005188.4(CBL):c.688C>T (p.Leu230=)
|
|
|
NM_005188.4(CBL):c.693C>A (p.Thr231=)
|
|
|
NM_005188.4(CBL):c.702T>C (p.Asp234=)
|
rs2135299020
|
|
NM_005188.4(CBL):c.704A>G (p.Tyr235Cys)
|
|
|
NM_005188.4(CBL):c.710C>A (p.Ser237Ter)
|
|
|
NM_005188.4(CBL):c.711G>C (p.Ser237=)
|
|
|
NM_005188.4(CBL):c.726C>T (p.Asp242=)
|
rs886152926
|
|
NM_005188.4(CBL):c.727A>T (p.Ile243Phe)
|
|
|
NM_005188.4(CBL):c.728T>C (p.Ile243Thr)
|
rs1268100574
|
|
NM_005188.4(CBL):c.729C>T (p.Ile243=)
|
|
|
NM_005188.4(CBL):c.735C>T (p.Thr245=)
|
|
|
NM_005188.4(CBL):c.747+10_747+11insTTAT
|
rs1473693007
|
|
NM_005188.4(CBL):c.747+16del
|
rs2135299171
|
|
NM_005188.4(CBL):c.747+19_747+20insA
|
rs1949869142
|
|
NM_005188.4(CBL):c.747+3A>G
|
rs1592398477
|
|
NM_005188.4(CBL):c.747+8A>T
|
|
|
NM_005188.4(CBL):c.747G>A (p.Gln249=)
|
rs1949869019
|
|
NM_005188.4(CBL):c.748-11del
|
|
|
NM_005188.4(CBL):c.748-12T>A
|
rs1949876096
|
|
NM_005188.4(CBL):c.748-13C>A
|
|
|
NM_005188.4(CBL):c.748-16G>C
|
rs200533967
|
|
NM_005188.4(CBL):c.748-18T>C
|
|
|
NM_005188.4(CBL):c.748-19A>C
|
|
|
NM_005188.4(CBL):c.748-20G>A
|
|
|
NM_005188.4(CBL):c.748-3T>C
|
rs1060500677
|
|
NM_005188.4(CBL):c.748-6C>T
|
rs1398964671
|
|
NM_005188.4(CBL):c.765C>G (p.Leu255=)
|
|
|
NM_005188.4(CBL):c.768G>A (p.Arg256=)
|
rs1555229786
|
|
NM_005188.4(CBL):c.777C>T (p.Asn259=)
|
|
|
NM_005188.4(CBL):c.785C>T (p.Ala262Val)
|
rs1949876321
|
|
NM_005188.4(CBL):c.814T>C (p.Leu272=)
|
rs2135300581
|
|
NM_005188.4(CBL):c.831G>C (p.Val277=)
|
|
|
NM_005188.4(CBL):c.838C>G (p.Arg280Gly)
|
|
|
NM_005188.4(CBL):c.851T>C (p.Phe284Ser)
|
|
|
NM_005188.4(CBL):c.864dup (p.Gly289fs)
|
|
|
NM_005188.4(CBL):c.866G>T (p.Gly289Val)
|
rs2135300624
|
|
NM_005188.4(CBL):c.869+14C>T
|
|
|
NM_005188.4(CBL):c.869+18A>G
|
rs1432059209
|
|
NM_005188.4(CBL):c.870-13T>C
|
|
|
NM_005188.4(CBL):c.880C>T (p.Arg294Trp)
|
|
|
NM_005188.4(CBL):c.882G>A (p.Arg294=)
|
rs1949886854
|
|
NM_005188.4(CBL):c.891T>C (p.Cys297=)
|
rs1949886927
|
|
NM_005188.4(CBL):c.892A>C (p.Thr298Pro)
|
rs1949886947
|
|
NM_005188.4(CBL):c.895C>T (p.Arg299Cys)
|
rs1053471259
|
|
NM_005188.4(CBL):c.906G>A (p.Gln302=)
|
|
|
NM_005188.4(CBL):c.913A>G (p.Ile305Val)
|
|
|
NM_005188.4(CBL):c.927T>C (p.Thr309=)
|
|
|
NM_005188.4(CBL):c.929C>G (p.Ala310Gly)
|
|
|
NM_005188.4(CBL):c.936G>T (p.Gly312=)
|
rs1949887269
|
|
NM_005188.4(CBL):c.938A>G (p.Asn313Ser)
|
|
|
NM_005188.4(CBL):c.940A>T (p.Ile314Phe)
|
|
|
NM_005188.4(CBL):c.945C>G (p.Leu315=)
|
|
|
NM_005188.4(CBL):c.952A>G (p.Ile318Val)
|
|
|
NM_005188.4(CBL):c.954C>T (p.Ile318=)
|
rs1592399698
|
|
NM_005188.4(CBL):c.960C>A (p.His320Gln)
|
rs1949887450
|
|
NM_005188.4(CBL):c.966A>G (p.Lys322=)
|
rs2135301572
|
|
NM_005188.4(CBL):c.972C>T (p.Leu324=)
|
rs2135301576
|
|
NM_005188.4(CBL):c.981A>G (p.Ala327=)
|
rs2135301590
|
|