NM_024665.7(TBL1XR1):c.766+5A>G
|
rs3749234
|
0.21092
|
NM_024665.7(TBL1XR1):c.1416+25C>G
|
rs16827730
|
0.10956
|
NM_024665.7(TBL1XR1):c.926-8C>T
|
rs77478951
|
0.07381
|
NM_024665.7(TBL1XR1):c.59-13C>G
|
rs78281312
|
0.03907
|
NM_024665.7(TBL1XR1):c.1416+14A>G
|
rs144060569
|
0.01159
|
NM_024665.7(TBL1XR1):c.669A>G (p.Pro223=)
|
rs61750378
|
0.00631
|
NM_024665.7(TBL1XR1):c.291A>G (p.Gln97=)
|
rs61750379
|
0.00455
|
NM_024665.7(TBL1XR1):c.1123-14T>G
|
rs117037344
|
0.00152
|
NM_024665.7(TBL1XR1):c.1251-8T>A
|
rs148654942
|
0.00065
|
NM_024665.7(TBL1XR1):c.1251-13C>G
|
rs764679582
|
0.00038
|
NM_024665.7(TBL1XR1):c.865-19C>T
|
rs375720678
|
0.00034
|
NM_024665.7(TBL1XR1):c.343G>A (p.Ala115Thr)
|
rs375411293
|
0.00022
|
NM_024665.7(TBL1XR1):c.138C>T (p.Pro46=)
|
rs373988821
|
0.00014
|
NM_024665.7(TBL1XR1):c.204+20A>C
|
rs377008567
|
0.00014
|
NM_024665.7(TBL1XR1):c.606C>T (p.Ser202=)
|
rs561869177
|
0.00013
|
NM_024665.7(TBL1XR1):c.926-16C>G
|
rs111696369
|
0.00011
|
NM_024665.7(TBL1XR1):c.90A>C (p.Ile30=)
|
rs201359736
|
0.00009
|
NM_024665.7(TBL1XR1):c.1185T>C (p.Tyr395=)
|
rs769514144
|
0.00007
|
NM_024665.7(TBL1XR1):c.346G>T (p.Ala116Ser)
|
rs372813783
|
0.00006
|
NM_024665.7(TBL1XR1):c.59-5T>C
|
rs773473383
|
0.00006
|
NM_024665.7(TBL1XR1):c.792G>A (p.Gln264=)
|
rs754559924
|
0.00006
|
NM_024665.7(TBL1XR1):c.882C>T (p.Asp294=)
|
rs747230542
|
0.00006
|
NM_024665.7(TBL1XR1):c.1250+7C>T
|
rs1451573835
|
0.00005
|
NM_024665.7(TBL1XR1):c.1424C>T (p.Ala475Val)
|
rs753533374
|
0.00005
|
NM_024665.7(TBL1XR1):c.428-7G>A
|
rs751979734
|
0.00005
|
NM_024665.7(TBL1XR1):c.843C>T (p.Ile281=)
|
rs377292061
|
0.00005
|
NM_024665.7(TBL1XR1):c.427+6C>T
|
rs574703637
|
0.00004
|
NM_024665.7(TBL1XR1):c.428-8C>T
|
rs755172052
|
0.00004
|
NM_024665.7(TBL1XR1):c.767-10T>C
|
rs374414651
|
0.00004
|
NM_024665.7(TBL1XR1):c.925+13T>C
|
rs774246831
|
0.00004
|
NM_024665.7(TBL1XR1):c.926-18A>G
|
rs556726946
|
0.00004
|
NM_024665.7(TBL1XR1):c.1266T>C (p.Ser422=)
|
rs373306105
|
0.00003
|
NM_024665.7(TBL1XR1):c.1413G>A (p.Thr471=)
|
rs768492558
|
0.00003
|
NM_024665.7(TBL1XR1):c.171A>G (p.Leu57=)
|
rs144606780
|
0.00003
|
NM_024665.7(TBL1XR1):c.58+18G>A
|
rs532484549
|
0.00003
|
NM_024665.7(TBL1XR1):c.660A>G (p.Gln220=)
|
rs746245898
|
0.00003
|
NM_024665.7(TBL1XR1):c.702+13A>G
|
rs751169814
|
0.00003
|
NM_024665.7(TBL1XR1):c.714A>G (p.Thr238=)
|
rs750132632
|
0.00003
|
NM_024665.7(TBL1XR1):c.798A>G (p.Lys266=)
|
rs779782589
|
0.00003
|
NM_024665.7(TBL1XR1):c.925+20C>T
|
rs959944490
|
0.00003
|
NM_024665.7(TBL1XR1):c.1251-15T>C
|
rs768431229
|
0.00002
|
NM_024665.7(TBL1XR1):c.1365G>A (p.Arg455=)
|
rs1407933921
|
0.00002
|
NM_024665.7(TBL1XR1):c.1416+4T>C
|
rs760434778
|
0.00002
|
NM_024665.7(TBL1XR1):c.318A>G (p.Gln106=)
|
rs369839013
|
0.00002
|
NM_024665.7(TBL1XR1):c.342C>T (p.Ala114=)
|
rs780887368
|
0.00002
|
NM_024665.7(TBL1XR1):c.353C>T (p.Ala118Val)
|
rs749382891
|
0.00002
|
NM_024665.7(TBL1XR1):c.356G>C (p.Ser119Thr)
|
rs756214140
|
0.00002
|
NM_024665.7(TBL1XR1):c.366A>T (p.Gly122=)
|
rs189284362
|
0.00002
|
NM_024665.7(TBL1XR1):c.561-12A>G
|
rs1298509198
|
0.00002
|
NM_024665.7(TBL1XR1):c.767-7A>G
|
rs1032321341
|
0.00002
|
NM_024665.7(TBL1XR1):c.865-18T>G
|
rs564993517
|
0.00002
|
NM_024665.7(TBL1XR1):c.933A>G (p.Ala311=)
|
rs778688857
|
0.00002
|
NM_024665.7(TBL1XR1):c.961A>G (p.Thr321Ala)
|
rs753108357
|
0.00002
|
NM_024665.7(TBL1XR1):c.1047+3A>G
|
rs1320754324
|
0.00001
|
NM_024665.7(TBL1XR1):c.1047+4A>G
|
rs752675721
|
0.00001
|
NM_024665.7(TBL1XR1):c.1089C>G (p.Leu363=)
|
rs749108767
|
0.00001
|
NM_024665.7(TBL1XR1):c.1152C>T (p.Val384=)
|
rs770559682
|
0.00001
|
NM_024665.7(TBL1XR1):c.1172A>G (p.Asn391Ser)
|
rs1714446805
|
0.00001
|
NM_024665.7(TBL1XR1):c.1220A>G (p.Asn407Ser)
|
rs781011308
|
0.00001
|
NM_024665.7(TBL1XR1):c.1228A>C (p.Asn410His)
|
rs954146086
|
0.00001
|
NM_024665.7(TBL1XR1):c.1235A>G (p.Asn412Ser)
|
rs1553808729
|
0.00001
|
NM_024665.7(TBL1XR1):c.1246G>A (p.Ala416Thr)
|
rs1576982573
|
0.00001
|
NM_024665.7(TBL1XR1):c.1251-10C>T
|
rs779947196
|
0.00001
|
NM_024665.7(TBL1XR1):c.1392A>G (p.Lys464=)
|
rs776138830
|
0.00001
|
NM_024665.7(TBL1XR1):c.1506A>G (p.Ala502=)
|
rs1468675014
|
0.00001
|
NM_024665.7(TBL1XR1):c.150T>A (p.Ile50=)
|
rs1025942647
|
0.00001
|
NM_024665.7(TBL1XR1):c.1527A>C (p.Val509=)
|
rs768850049
|
0.00001
|
NM_024665.7(TBL1XR1):c.1545G>A (p.Ter515=)
|
rs371553222
|
0.00001
|
NM_024665.7(TBL1XR1):c.159C>T (p.Ile53=)
|
rs1331072894
|
0.00001
|
NM_024665.7(TBL1XR1):c.205-11T>C
|
rs747992136
|
0.00001
|
NM_024665.7(TBL1XR1):c.297T>C (p.Tyr99=)
|
rs1418550335
|
0.00001
|
NM_024665.7(TBL1XR1):c.341C>T (p.Ala114Val)
|
rs747826896
|
0.00001
|
NM_024665.7(TBL1XR1):c.396T>C (p.Asn132=)
|
rs930714302
|
0.00001
|
NM_024665.7(TBL1XR1):c.402G>A (p.Glu134=)
|
rs1376215669
|
0.00001
|
NM_024665.7(TBL1XR1):c.441T>G (p.Asp147Glu)
|
rs1197826368
|
0.00001
|
NM_024665.7(TBL1XR1):c.443T>C (p.Met148Thr)
|
rs375312919
|
0.00001
|
NM_024665.7(TBL1XR1):c.444G>A (p.Met148Ile)
|
rs1339329131
|
0.00001
|
NM_024665.7(TBL1XR1):c.447G>T (p.Met149Ile)
|
rs1716927122
|
0.00001
|
NM_024665.7(TBL1XR1):c.560+7T>C
|
rs1009061727
|
0.00001
|
NM_024665.7(TBL1XR1):c.594T>C (p.Leu198=)
|
rs1021701037
|
0.00001
|
NM_024665.7(TBL1XR1):c.657G>A (p.Gly219=)
|
rs772368300
|
0.00001
|
NM_024665.7(TBL1XR1):c.783C>T (p.Thr261=)
|
rs781650987
|
0.00001
|
NM_024665.7(TBL1XR1):c.915T>A (p.Pro305=)
|
rs1399203622
|
0.00001
|
NM_024665.7(TBL1XR1):c.945T>C (p.Asp315=)
|
rs757159620
|
0.00001
|
NM_024665.7(TBL1XR1):c.98A>G (p.His33Arg)
|
rs919621560
|
0.00001
|
GRCh37/hg19 3q26.32(chr3:176755939-176756243)x1
|
|
|
NC_000003.11:g.(?_176743266)_(176782785_?)dup
|
|
|
NC_000003.11:g.(?_176743286)_(176782765_?)dup
|
|
|
NM_024665.7(TBL1XR1):c.1000T>C (p.Cys334Arg)
|
rs1576994101
|
|
NM_024665.7(TBL1XR1):c.1018_1021del (p.Arg340fs)
|
rs1715100386
|
|
NM_024665.7(TBL1XR1):c.1022C>T (p.Pro341Leu)
|
|
|
NM_024665.7(TBL1XR1):c.1026T>A (p.Ile342=)
|
|
|
NM_024665.7(TBL1XR1):c.1046C>T (p.Thr349Met)
|
|
|
NM_024665.7(TBL1XR1):c.1047+1G>C
|
|
|
NM_024665.7(TBL1XR1):c.1047+5G>T
|
|
|
NM_024665.7(TBL1XR1):c.1047G>A (p.Thr349=)
|
rs765557053
|
|
NM_024665.7(TBL1XR1):c.1047G>T (p.Thr349=)
|
|
|
NM_024665.7(TBL1XR1):c.1048-1G>A
|
rs1576993734
|
|
NM_024665.7(TBL1XR1):c.1048-7T>C
|
|
|
NM_024665.7(TBL1XR1):c.1071G>A (p.Trp357Ter)
|
rs2108436501
|
|
NM_024665.7(TBL1XR1):c.1085A>G (p.Asn362Ser)
|
|
|
NM_024665.7(TBL1XR1):c.1090T>C (p.Leu364=)
|
rs2108436409
|
|
NM_024665.7(TBL1XR1):c.1095C>G (p.Ala365=)
|
rs2108436387
|
|
NM_024665.7(TBL1XR1):c.1097C>T (p.Ser366Phe)
|
rs2108436373
|
|
NM_024665.7(TBL1XR1):c.1100G>T (p.Cys367Phe)
|
rs1576993654
|
|
NM_024665.7(TBL1XR1):c.1104T>G (p.Ser368=)
|
|
|
NM_024665.7(TBL1XR1):c.1107C>T (p.Asp369=)
|
|
|
NM_024665.7(TBL1XR1):c.1108G>A (p.Asp370Asn)
|
rs1057517933
|
|
NM_024665.7(TBL1XR1):c.1122+12A>G
|
|
|
NM_024665.7(TBL1XR1):c.1122+13G>C
|
rs973017561
|
|
NM_024665.7(TBL1XR1):c.1122+15A>T
|
rs781151039
|
|
NM_024665.7(TBL1XR1):c.1122+16G>A
|
|
|
NM_024665.7(TBL1XR1):c.1122+5T>C
|
|
|
NM_024665.7(TBL1XR1):c.1125A>G (p.Ile375Met)
|
rs1714452457
|
|
NM_024665.7(TBL1XR1):c.1126T>C (p.Trp376Arg)
|
rs1064795585
|
|
NM_024665.7(TBL1XR1):c.113A>G (p.Asn38Ser)
|
rs1717436350
|
|
NM_024665.7(TBL1XR1):c.1143C>T (p.Asp381=)
|
rs773941585
|
|
NM_024665.7(TBL1XR1):c.1145A>G (p.Asn382Ser)
|
rs1282634331
|
|
NM_024665.7(TBL1XR1):c.1150G>T (p.Val384Phe)
|
|
|
NM_024665.7(TBL1XR1):c.1151T>C (p.Val384Ala)
|
rs2108414521
|
|
NM_024665.7(TBL1XR1):c.1160T>C (p.Leu387Ser)
|
rs2108414472
|
|
NM_024665.7(TBL1XR1):c.1161G>A (p.Leu387=)
|
|
|
NM_024665.7(TBL1XR1):c.1171A>G (p.Asn391Asp)
|
|
|
NM_024665.7(TBL1XR1):c.1173T>C (p.Asn391=)
|
|
|
NM_024665.7(TBL1XR1):c.117A>C (p.Ile39=)
|
rs2108504046
|
|
NM_024665.7(TBL1XR1):c.1182T>G (p.Ile394Met)
|
rs973409423
|
|
NM_024665.7(TBL1XR1):c.1184A>G (p.Tyr395Cys)
|
rs1576982808
|
|
NM_024665.7(TBL1XR1):c.118_119insGTCAGTCCATTT (p.Asn40delinsSerGlnSerIleTyr)
|
rs1717436007
|
|
NM_024665.7(TBL1XR1):c.1195T>A (p.Trp399Arg)
|
rs2108414262
|
|
NM_024665.7(TBL1XR1):c.119A>G (p.Asn40Ser)
|
rs2108504030
|
|
NM_024665.7(TBL1XR1):c.1217C>G (p.Thr406Ser)
|
rs1020225336
|
|
NM_024665.7(TBL1XR1):c.1219A>G (p.Asn407Asp)
|
|
|
NM_024665.7(TBL1XR1):c.1225C>A (p.Pro409Thr)
|
|
|
NM_024665.7(TBL1XR1):c.1225C>G (p.Pro409Ala)
|
rs1008313618
|
|
NM_024665.7(TBL1XR1):c.122G>A (p.Gly41Asp)
|
rs1234470093
|
|
NM_024665.7(TBL1XR1):c.1240A>C (p.Met414Leu)
|
|
|
NM_024665.7(TBL1XR1):c.124G>A (p.Ala42Thr)
|
|
|
NM_024665.7(TBL1XR1):c.1250+13T>C
|
|
|
NM_024665.7(TBL1XR1):c.1250+17A>G
|
|
|
NM_024665.7(TBL1XR1):c.1250+6A>T
|
|
|
NM_024665.7(TBL1XR1):c.1251-10_1251-7del
|
rs778600858
|
|
NM_024665.7(TBL1XR1):c.1251-11T>A
|
rs2108408439
|
|
NM_024665.7(TBL1XR1):c.1251-19T>C
|
|
|
NM_024665.7(TBL1XR1):c.1251-9C>T
|
|
|
NM_024665.7(TBL1XR1):c.1257C>T (p.Ser419=)
|
rs2108408341
|
|
NM_024665.7(TBL1XR1):c.126C>T (p.Ala42=)
|
rs1553817646
|
|
NM_024665.7(TBL1XR1):c.1270G>A (p.Val424Ile)
|
rs753008616
|
|
NM_024665.7(TBL1XR1):c.1290C>A (p.Asp430Glu)
|
|
|
NM_024665.7(TBL1XR1):c.129C>G (p.Leu43=)
|
rs769063142
|
|
NM_024665.7(TBL1XR1):c.129C>T (p.Leu43=)
|
rs769063142
|
|
NM_024665.7(TBL1XR1):c.1301G>A (p.Cys434Tyr)
|
rs1372547105
|
|
NM_024665.7(TBL1XR1):c.1302C>T (p.Cys434=)
|
|
|
NM_024665.7(TBL1XR1):c.130G>A (p.Val44Ile)
|
rs1553817638
|
|
NM_024665.7(TBL1XR1):c.1323_1325del (p.His441del)
|
rs2108408054
|
|
NM_024665.7(TBL1XR1):c.1333G>A (p.Val445Met)
|
|
|
NM_024665.7(TBL1XR1):c.1336T>C (p.Tyr446His)
|
rs1553808301
|
|
NM_024665.7(TBL1XR1):c.1337A>G (p.Tyr446Cys)
|
rs878854402
|
|
NM_024665.7(TBL1XR1):c.1340G>A (p.Ser447Asn)
|
rs2108407962
|
|
NM_024665.7(TBL1XR1):c.1342G>A (p.Val448Ile)
|
rs1714230654
|
|
NM_024665.7(TBL1XR1):c.1344A>G (p.Val448=)
|
|
|
NM_024665.7(TBL1XR1):c.1346C>T (p.Ala449Val)
|
|
|
NM_024665.7(TBL1XR1):c.1364G>A (p.Arg455Lys)
|
|
|
NM_024665.7(TBL1XR1):c.1383T>C (p.Ser461=)
|
|
|
NM_024665.7(TBL1XR1):c.1385T>C (p.Phe462Ser)
|
|
|
NM_024665.7(TBL1XR1):c.1387G>A (p.Asp463Asn)
|
rs1560098548
|
|
NM_024665.7(TBL1XR1):c.138C>G (p.Pro46=)
|
|
|
NM_024665.7(TBL1XR1):c.139G>A (p.Ala47Thr)
|
rs1253058954
|
|
NM_024665.7(TBL1XR1):c.1416+20A>G
|
|
|
NM_024665.7(TBL1XR1):c.1417-10A>G
|
|
|
NM_024665.7(TBL1XR1):c.1417-12dup
|
rs753561692
|
|
NM_024665.7(TBL1XR1):c.1417-16_1417-15dup
|
rs753561692
|
|
NM_024665.7(TBL1XR1):c.1417-19T>C
|
rs2108378479
|
|
NM_024665.7(TBL1XR1):c.1417-7C>G
|
rs761210577
|
|
NM_024665.7(TBL1XR1):c.1417A>G (p.Thr473Ala)
|
|
|
NM_024665.7(TBL1XR1):c.1418C>T (p.Thr473Ile)
|
rs1560091765
|
|
NM_024665.7(TBL1XR1):c.1425T>C (p.Ala475=)
|
|
|
NM_024665.7(TBL1XR1):c.1428A>G (p.Leu476=)
|
rs544818049
|
|
NM_024665.7(TBL1XR1):c.1449A>G (p.Thr483=)
|
|
|
NM_024665.7(TBL1XR1):c.145T>C (p.Leu49=)
|
|
|
NM_024665.7(TBL1XR1):c.1488C>T (p.Asp496=)
|
|
|
NM_024665.7(TBL1XR1):c.1512T>C (p.Asp504=)
|
|
|
NM_024665.7(TBL1XR1):c.1518+18T>A
|
|
|
NM_024665.7(TBL1XR1):c.1518+20T>C
|
|
|
NM_024665.7(TBL1XR1):c.1518+3A>G
|
|
|
NM_024665.7(TBL1XR1):c.1518+8_1518+12del
|
|
|
NM_024665.7(TBL1XR1):c.1518A>C (p.Ser506=)
|
|
|
NM_024665.7(TBL1XR1):c.1519-17A>G
|
|
|
NM_024665.7(TBL1XR1):c.1519-21_1519-18del
|
rs777937343
|
|
NM_024665.7(TBL1XR1):c.1523G>A (p.Cys508Tyr)
|
rs2108374207
|
|
NM_024665.7(TBL1XR1):c.1527A>T (p.Val509=)
|
|
|
NM_024665.7(TBL1XR1):c.1537C>T (p.Arg513Trp)
|
|
|
NM_024665.7(TBL1XR1):c.1539G>C (p.Arg513=)
|
rs2108374139
|
|
NM_024665.7(TBL1XR1):c.1542A>G (p.Lys514=)
|
|
|
NM_024665.7(TBL1XR1):c.156C>T (p.Ile52=)
|
|
|
NM_024665.7(TBL1XR1):c.172_173del (p.Gln58fs)
|
rs2108503904
|
|
NM_024665.7(TBL1XR1):c.17A>G (p.Asp6Gly)
|
rs1577062828
|
|
NM_024665.7(TBL1XR1):c.180A>G (p.Val60=)
|
rs749015447
|
|
NM_024665.7(TBL1XR1):c.186A>G (p.Ala62=)
|
|
|
NM_024665.7(TBL1XR1):c.197T>G (p.Ile66Ser)
|
rs1717428641
|
|
NM_024665.7(TBL1XR1):c.198T>A (p.Ile66=)
|
|
|
NM_024665.7(TBL1XR1):c.204+10A>G
|
|
|
NM_024665.7(TBL1XR1):c.204+15T>C
|
|
|
NM_024665.7(TBL1XR1):c.204+20A>G
|
rs377008567
|
|
NM_024665.7(TBL1XR1):c.204+8A>G
|
|
|
NM_024665.7(TBL1XR1):c.204+9G>A
|
rs1180832176
|
|
NM_024665.7(TBL1XR1):c.204_204+2dup
|
|
|
NM_024665.7(TBL1XR1):c.205-13T>A
|
|
|
NM_024665.7(TBL1XR1):c.205-15A>G
|
|
|
NM_024665.7(TBL1XR1):c.205-3C>T
|
rs1320026361
|
|
NM_024665.7(TBL1XR1):c.205-7A>G
|
rs1717116134
|
|
NM_024665.7(TBL1XR1):c.205-9C>T
|
|
|
NM_024665.7(TBL1XR1):c.205G>T (p.Asp69Tyr)
|
rs2108497431
|
|
NM_024665.7(TBL1XR1):c.208G>T (p.Gly70Cys)
|
|
|
NM_024665.7(TBL1XR1):c.216G>A (p.Leu72=)
|
rs2108497392
|
|
NM_024665.7(TBL1XR1):c.226C>T (p.Arg76Ter)
|
rs1577029680
|
|
NM_024665.7(TBL1XR1):c.232A>G (p.Ile78Val)
|
rs935282343
|
|
NM_024665.7(TBL1XR1):c.241C>G (p.Leu81Val)
|
|
|
NM_024665.7(TBL1XR1):c.249G>C (p.Leu83=)
|
|
|
NM_024665.7(TBL1XR1):c.257_271del (p.Ala86_Asp90del)
|
|
|
NM_024665.7(TBL1XR1):c.258C>T (p.Ala86=)
|
|
|
NM_024665.7(TBL1XR1):c.259G>A (p.Val87Ile)
|
rs751513385
|
|
NM_024665.7(TBL1XR1):c.273A>G (p.Val91=)
|
rs1577029566
|
|
NM_024665.7(TBL1XR1):c.277C>G (p.Gln93Glu)
|
|
|
NM_024665.7(TBL1XR1):c.283A>G (p.Arg95Gly)
|
rs2108497148
|
|
NM_024665.7(TBL1XR1):c.28T>C (p.Phe10Leu)
|
rs1718967303
|
|
NM_024665.7(TBL1XR1):c.303T>G (p.Asp101Glu)
|
rs764319248
|
|
NM_024665.7(TBL1XR1):c.307C>G (p.Leu103Val)
|
|
|
NM_024665.7(TBL1XR1):c.308T>C (p.Leu103Pro)
|
rs2108497048
|
|
NM_024665.7(TBL1XR1):c.321_338dup (p.Ala118_Ser119insAlaAlaAlaAlaAlaAla)
|
|
|
NM_024665.7(TBL1XR1):c.323C>T (p.Ala108Val)
|
rs1056676313
|
|
NM_024665.7(TBL1XR1):c.324_341dup (p.Ala113_Ala118dup)
|
rs1553816164
|
|
NM_024665.7(TBL1XR1):c.327_353del (p.Ala110_Ala118del)
|
|
|
NM_024665.7(TBL1XR1):c.327_357dup (p.Gln120fs)
|
rs1577029136
|
|
NM_024665.7(TBL1XR1):c.330T>C (p.Ala110=)
|
rs774761056
|
|
NM_024665.7(TBL1XR1):c.333T>C (p.Ala111=)
|
|
|
NM_024665.7(TBL1XR1):c.333_350del (p.Ala113_Ala118del)
|
rs1462665726
|
|
NM_024665.7(TBL1XR1):c.333_350dup (p.Ala113_Ala118dup)
|
rs1462665726
|
|
NM_024665.7(TBL1XR1):c.342_350del (p.Ala116_Ala118del)
|
rs746988856
|
|
NM_024665.7(TBL1XR1):c.342_350dup (p.Ala116_Ala118dup)
|
rs746988856
|
|
NM_024665.7(TBL1XR1):c.350C>T (p.Ala117Val)
|
|
|
NM_024665.7(TBL1XR1):c.351A>T (p.Ala117=)
|
|
|
NM_024665.7(TBL1XR1):c.353C>A (p.Ala118Asp)
|
rs749382891
|
|
NM_024665.7(TBL1XR1):c.354C>T (p.Ala118=)
|
|
|
NM_024665.7(TBL1XR1):c.355A>G (p.Ser119Gly)
|
|
|
NM_024665.7(TBL1XR1):c.356G>A (p.Ser119Asn)
|
rs756214140
|
|
NM_024665.7(TBL1XR1):c.360A>G (p.Gln120=)
|
|
|
NM_024665.7(TBL1XR1):c.365G>A (p.Gly122Glu)
|
|
|
NM_024665.7(TBL1XR1):c.38A>G (p.Tyr13Cys)
|
rs1405162373
|
|
NM_024665.7(TBL1XR1):c.390A>C (p.Thr130=)
|
rs1335460465
|
|
NM_024665.7(TBL1XR1):c.395A>G (p.Asn132Ser)
|
|
|
NM_024665.7(TBL1XR1):c.399G>A (p.Gly133=)
|
rs751925024
|
|
NM_024665.7(TBL1XR1):c.40A>G (p.Arg14Gly)
|
rs1718965342
|
|
NM_024665.7(TBL1XR1):c.413C>G (p.Ala138Gly)
|
rs1717082998
|
|
NM_024665.7(TBL1XR1):c.417T>C (p.His139=)
|
|
|
NM_024665.7(TBL1XR1):c.41del (p.Arg14fs)
|
rs2108539881
|
|
NM_024665.7(TBL1XR1):c.420dup (p.Ile141fs)
|
|
|
NM_024665.7(TBL1XR1):c.427+15_427+17del
|
|
|
NM_024665.7(TBL1XR1):c.427+9A>T
|
rs2108496137
|
|
NM_024665.7(TBL1XR1):c.428-19C>T
|
|
|
NM_024665.7(TBL1XR1):c.428-20A>G
|
|
|
NM_024665.7(TBL1XR1):c.428-20_428-17del
|
|
|
NM_024665.7(TBL1XR1):c.428-7G>T
|
rs751979734
|
|
NM_024665.7(TBL1XR1):c.434A>T (p.His145Leu)
|
|
|
NM_024665.7(TBL1XR1):c.459G>A (p.Gly153=)
|
|
|
NM_024665.7(TBL1XR1):c.478A>C (p.Asn160His)
|
rs2108492417
|
|
NM_024665.7(TBL1XR1):c.490G>C (p.Val164Leu)
|
rs2108492388
|
|
NM_024665.7(TBL1XR1):c.513A>G (p.Glu171=)
|
|
|
NM_024665.7(TBL1XR1):c.514G>C (p.Val172Leu)
|
rs1716920045
|
|
NM_024665.7(TBL1XR1):c.519T>C (p.Phe173=)
|
rs765740107
|
|
NM_024665.7(TBL1XR1):c.521T>A (p.Ile174Asn)
|
rs1716918794
|
|
NM_024665.7(TBL1XR1):c.526G>T (p.Ala176Ser)
|
|
|
NM_024665.7(TBL1XR1):c.533A>G (p.Asn178Ser)
|
|
|
NM_024665.7(TBL1XR1):c.542G>A (p.Ser181Asn)
|
rs1367919718
|
|
NM_024665.7(TBL1XR1):c.549C>G (p.Leu183=)
|
|
|
NM_024665.7(TBL1XR1):c.549C>T (p.Leu183=)
|
|
|
NM_024665.7(TBL1XR1):c.549_551del (p.Leu184del)
|
|
|
NM_024665.7(TBL1XR1):c.555A>G (p.Ala185=)
|
rs1047926029
|
|
NM_024665.7(TBL1XR1):c.558A>G (p.Ser186=)
|
rs760252840
|
|
NM_024665.7(TBL1XR1):c.559G>C (p.Gly187Arg)
|
rs2108492204
|
|
NM_024665.7(TBL1XR1):c.560+15G>T
|
|
|
NM_024665.7(TBL1XR1):c.560+17G>C
|
|
|
NM_024665.7(TBL1XR1):c.560+19T>C
|
|
|
NM_024665.7(TBL1XR1):c.561-11T>C
|
|
|
NM_024665.7(TBL1XR1):c.561-12A>C
|
rs1298509198
|
|
NM_024665.7(TBL1XR1):c.561-13C>T
|
|
|
NM_024665.7(TBL1XR1):c.561-13del
|
rs2108490955
|
|
NM_024665.7(TBL1XR1):c.561-15T>C
|
rs201736942
|
|
NM_024665.7(TBL1XR1):c.561-5dup
|
|
|
NM_024665.7(TBL1XR1):c.58+14dup
|
|
|
NM_024665.7(TBL1XR1):c.58+8C>T
|
rs2108539820
|
|
NM_024665.7(TBL1XR1):c.585A>C (p.Ile195=)
|
|
|
NM_024665.7(TBL1XR1):c.59-13_59-9del
|
rs759688772
|
|
NM_024665.7(TBL1XR1):c.59-15_59-14del
|
rs775386912
|
|
NM_024665.7(TBL1XR1):c.59-22_59-19del
|
|
|
NM_024665.7(TBL1XR1):c.59-3T>C
|
rs2108504149
|
|
NM_024665.7(TBL1XR1):c.59-3dup
|
|
|
NM_024665.7(TBL1XR1):c.59-5T>G
|
|
|
NM_024665.7(TBL1XR1):c.59-8G>T
|
|
|
NM_024665.7(TBL1XR1):c.59-8_59-7insGT
|
|
|
NM_024665.7(TBL1XR1):c.595A>C (p.Ser199Arg)
|
|
|
NM_024665.7(TBL1XR1):c.604A>C (p.Ser202Arg)
|
rs2108490815
|
|
NM_024665.7(TBL1XR1):c.619A>G (p.Thr207Ala)
|
|
|
NM_024665.7(TBL1XR1):c.621A>G (p.Thr207=)
|
|
|
NM_024665.7(TBL1XR1):c.626_629del (p.Leu209fs)
|
rs1716848997
|
|
NM_024665.7(TBL1XR1):c.629T>G (p.Val210Gly)
|
|
|
NM_024665.7(TBL1XR1):c.64dup (p.Ser22fs)
|
|
|
NM_024665.7(TBL1XR1):c.665T>A (p.Val222Asp)
|
|
|
NM_024665.7(TBL1XR1):c.671G>T (p.Ser224Ile)
|
|
|
NM_024665.7(TBL1XR1):c.678G>C (p.Lys226Asn)
|
|
|
NM_024665.7(TBL1XR1):c.679G>A (p.Asp227Asn)
|
rs2108490656
|
|
NM_024665.7(TBL1XR1):c.689C>T (p.Ser230Phe)
|
rs1553815393
|
|
NM_024665.7(TBL1XR1):c.693A>G (p.Leu231=)
|
rs2108490620
|
|
NM_024665.7(TBL1XR1):c.699_700delinsTT (p.Trp233_Asn234delinsCysTyr)
|
|
|
NM_024665.7(TBL1XR1):c.6T>C (p.Ser2=)
|
rs2108539980
|
|
NM_024665.7(TBL1XR1):c.700A>G (p.Asn234Asp)
|
rs752153431
|
|
NM_024665.7(TBL1XR1):c.702+12T>C
|
rs2108490586
|
|
NM_024665.7(TBL1XR1):c.702+17C>T
|
|
|
NM_024665.7(TBL1XR1):c.703-10del
|
|
|
NM_024665.7(TBL1XR1):c.703-2A>G
|
rs1577018466
|
|
NM_024665.7(TBL1XR1):c.703-4G>A
|
|
|
NM_024665.7(TBL1XR1):c.703A>G (p.Ser235Gly)
|
|
|
NM_024665.7(TBL1XR1):c.704G>A (p.Ser235Asn)
|
|
|
NM_024665.7(TBL1XR1):c.710G>A (p.Gly237Asp)
|
rs1716484744
|
|
NM_024665.7(TBL1XR1):c.712A>C (p.Thr238Pro)
|
rs1716484332
|
|
NM_024665.7(TBL1XR1):c.712A>G (p.Thr238Ala)
|
|
|
NM_024665.7(TBL1XR1):c.714A>C (p.Thr238=)
|
|
|
NM_024665.7(TBL1XR1):c.714A>T (p.Thr238=)
|
rs750132632
|
|
NM_024665.7(TBL1XR1):c.718C>T (p.Leu240=)
|
|
|
NM_024665.7(TBL1XR1):c.724A>G (p.Thr242Ala)
|
|
|
NM_024665.7(TBL1XR1):c.732C>T (p.Ser244=)
|
|
|
NM_024665.7(TBL1XR1):c.734A>G (p.Tyr245Cys)
|
rs878854401
|
|
NM_024665.7(TBL1XR1):c.75A>G (p.Ala25=)
|
|
|
NM_024665.7(TBL1XR1):c.766+13T>C
|
|
|
NM_024665.7(TBL1XR1):c.766+17C>T
|
|
|
NM_024665.7(TBL1XR1):c.766+7G>A
|
|
|
NM_024665.7(TBL1XR1):c.766+9A>G
|
|
|
NM_024665.7(TBL1XR1):c.767-23_767-18del
|
|
|
NM_024665.7(TBL1XR1):c.767-9G>A
|
|
|
NM_024665.7(TBL1XR1):c.776_780dup (p.Thr261fs)
|
|
|
NM_024665.7(TBL1XR1):c.780C>T (p.Ser260=)
|
|
|
NM_024665.7(TBL1XR1):c.787G>A (p.Gly263Arg)
|
rs2108479602
|
|
NM_024665.7(TBL1XR1):c.813A>G (p.Ala271=)
|
rs369700699
|
|
NM_024665.7(TBL1XR1):c.818A>G (p.Lys273Arg)
|
|
|
NM_024665.7(TBL1XR1):c.819A>G (p.Lys273=)
|
rs1036763376
|
|
NM_024665.7(TBL1XR1):c.827A>G (p.Lys276Arg)
|
|
|
NM_024665.7(TBL1XR1):c.830_831del (p.Lys277fs)
|
|
|
NM_024665.7(TBL1XR1):c.840C>T (p.Phe280=)
|
rs1716458483
|
|
NM_024665.7(TBL1XR1):c.846A>G (p.Leu282=)
|
|
|
NM_024665.7(TBL1XR1):c.84T>C (p.Phe28=)
|
rs1049402673
|
|
NM_024665.7(TBL1XR1):c.864+1G>A
|
|
|
NM_024665.7(TBL1XR1):c.864+7del
|
|
|
NM_024665.7(TBL1XR1):c.865-13_865-8del
|
rs774465473
|
|
NM_024665.7(TBL1XR1):c.865-14C>T
|
|
|
NM_024665.7(TBL1XR1):c.865-20del
|
rs1376809747
|
|
NM_024665.7(TBL1XR1):c.865-5C>G
|
rs1221661271
|
|
NM_024665.7(TBL1XR1):c.865-6T>A
|
|
|
NM_024665.7(TBL1XR1):c.887A>G (p.His296Arg)
|
|
|
NM_024665.7(TBL1XR1):c.906A>G (p.Gln302=)
|
|
|
NM_024665.7(TBL1XR1):c.925+12A>T
|
|
|
NM_024665.7(TBL1XR1):c.925+3A>G
|
|
|
NM_024665.7(TBL1XR1):c.925+7T>C
|
rs1716296692
|
|
NM_024665.7(TBL1XR1):c.926-12G>T
|
rs1715114156
|
|
NM_024665.7(TBL1XR1):c.926-20T>C
|
rs2108437610
|
|
NM_024665.7(TBL1XR1):c.926-4G>T
|
|
|
NM_024665.7(TBL1XR1):c.926-6T>C
|
rs1553810291
|
|
NM_024665.7(TBL1XR1):c.937G>A (p.Asp313Asn)
|
|
|
NM_024665.7(TBL1XR1):c.956ACA[1] (p.Asn320del)
|
|
|
NM_024665.7(TBL1XR1):c.959A>C (p.Asn320Thr)
|
|
|
NM_024665.7(TBL1XR1):c.974G>A (p.Cys325Tyr)
|
rs1553810255
|
|
NM_024665.7(TBL1XR1):c.977G>A (p.Ser326Asn)
|
|
|
NM_024665.7(TBL1XR1):c.999C>T (p.Val333=)
|
|
|