NM_139076.3(ABRAXAS1):c.1042G>A (p.Ala348Thr)
|
rs12642536
|
0.34822
|
NM_139076.3(ABRAXAS1):c.1117G>A (p.Asp373Asn)
|
rs13125836
|
0.04289
|
NM_139076.3(ABRAXAS1):c.283-108C>T
|
rs115192589
|
0.02599
|
NM_139076.3(ABRAXAS1):c.179-2093C>G
|
rs151220976
|
0.00912
|
NM_139076.3(ABRAXAS1):c.951C>T (p.Leu317=)
|
rs79357787
|
0.00772
|
NM_139076.3(ABRAXAS1):c.179-1773A>G
|
rs144453483
|
0.00229
|
NM_139076.3(ABRAXAS1):c.87+555T>A
|
rs182947222
|
0.00181
|
NM_139076.3(ABRAXAS1):c.179-1747C>G
|
rs191051176
|
0.00143
|
NM_139076.3(ABRAXAS1):c.283-137T>C
|
rs188900531
|
0.00136
|
NM_139076.3(ABRAXAS1):c.897G>A (p.Met299Ile)
|
rs140407442
|
0.00070
|
NM_139076.3(ABRAXAS1):c.283-97G>C
|
rs149402633
|
0.00064
|
NM_139076.3(ABRAXAS1):c.179-1131T>C
|
rs759681678
|
0.00057
|
NM_139076.3(ABRAXAS1):c.680A>C (p.Lys227Thr)
|
rs149091407
|
0.00043
|
NM_139076.3(ABRAXAS1):c.216-277T>C
|
rs542186014
|
0.00041
|
NM_139076.3(ABRAXAS1):c.1056T>G (p.Asp352Glu)
|
rs773812911
|
0.00029
|
NM_139076.3(ABRAXAS1):c.125A>G (p.Lys42Arg)
|
rs201948472
|
0.00028
|
NM_139076.3(ABRAXAS1):c.272A>T (p.Asn91Ile)
|
rs767146349
|
0.00016
|
NM_139076.3(ABRAXAS1):c.941A>G (p.Asn314Ser)
|
rs376489465
|
0.00014
|
NM_139076.3(ABRAXAS1):c.246G>A (p.Glu82=)
|
rs367969368
|
0.00011
|
NM_139076.3(ABRAXAS1):c.381C>T (p.Asn127=)
|
rs201470211
|
0.00010
|
NM_139076.3(ABRAXAS1):c.402A>G (p.Leu134=)
|
rs566419345
|
0.00009
|
NM_139076.3(ABRAXAS1):c.1082G>A (p.Arg361Gln)
|
rs201627097
|
0.00008
|
NM_139076.3(ABRAXAS1):c.1106dup (p.Ser370fs)
|
rs587780262
|
0.00006
|
NM_139076.3(ABRAXAS1):c.322C>G (p.Gln108Glu)
|
rs573603690
|
0.00005
|
NM_139076.3(ABRAXAS1):c.659C>T (p.Ala220Val)
|
rs568225415
|
0.00005
|
NM_139076.3(ABRAXAS1):c.776G>C (p.Gly259Ala)
|
rs201475497
|
0.00005
|
NM_139076.3(ABRAXAS1):c.853C>T (p.Arg285Trp)
|
rs150371881
|
0.00005
|
NM_139076.3(ABRAXAS1):c.892G>C (p.Val298Leu)
|
rs1266518140
|
0.00005
|
NM_139076.3(ABRAXAS1):c.1091A>G (p.Asp364Gly)
|
rs142910445
|
0.00004
|
NM_139076.3(ABRAXAS1):c.1124G>A (p.Gly375Asp)
|
rs751122263
|
0.00004
|
NM_139076.3(ABRAXAS1):c.1139A>G (p.Asp380Gly)
|
rs587780264
|
0.00004
|
NM_139076.3(ABRAXAS1):c.676T>C (p.Leu226=)
|
rs769383568
|
0.00004
|
NM_139076.3(ABRAXAS1):c.688T>C (p.Cys230Arg)
|
rs968394207
|
0.00004
|
NM_139076.3(ABRAXAS1):c.727C>G (p.Leu243Val)
|
rs755187051
|
0.00004
|
NM_139076.3(ABRAXAS1):c.315T>C (p.His105=)
|
rs375331034
|
0.00003
|
NM_139076.3(ABRAXAS1):c.533G>T (p.Gly178Val)
|
rs773434048
|
0.00003
|
NM_139076.3(ABRAXAS1):c.890G>T (p.Cys297Phe)
|
rs377162113
|
0.00003
|
NM_139076.3(ABRAXAS1):c.926G>A (p.Ser309Asn)
|
rs1060503251
|
0.00003
|
NM_139076.3(ABRAXAS1):c.1077A>G (p.Arg359=)
|
rs929635919
|
0.00002
|
NM_139076.3(ABRAXAS1):c.139G>C (p.Asp47His)
|
rs764540685
|
0.00002
|
NM_139076.3(ABRAXAS1):c.144C>T (p.Ser48=)
|
rs763350470
|
0.00002
|
NM_139076.3(ABRAXAS1):c.433T>C (p.Ser145Pro)
|
rs886983641
|
0.00002
|
NM_139076.3(ABRAXAS1):c.1012G>A (p.Ala338Thr)
|
rs1722174148
|
0.00001
|
NM_139076.3(ABRAXAS1):c.1019C>T (p.Thr340Ile)
|
rs367958380
|
0.00001
|
NM_139076.3(ABRAXAS1):c.1035G>A (p.Lys345=)
|
rs1236290730
|
0.00001
|
NM_139076.3(ABRAXAS1):c.1036C>T (p.His346Tyr)
|
rs755755614
|
0.00001
|
NM_139076.3(ABRAXAS1):c.1038T>C (p.His346=)
|
rs750046185
|
0.00001
|
NM_139076.3(ABRAXAS1):c.1108T>A (p.Ser370Thr)
|
rs587780263
|
0.00001
|
NM_139076.3(ABRAXAS1):c.1113A>G (p.Lys371=)
|
rs1204035867
|
0.00001
|
NM_139076.3(ABRAXAS1):c.1148C>T (p.Ser383Phe)
|
rs1722159207
|
0.00001
|
NM_139076.3(ABRAXAS1):c.1152A>C (p.Lys384Asn)
|
rs763567031
|
0.00001
|
NM_139076.3(ABRAXAS1):c.1158C>T (p.Ser386=)
|
rs758296226
|
0.00001
|
NM_139076.3(ABRAXAS1):c.1213C>T (p.Arg405Trp)
|
rs748616526
|
0.00001
|
NM_139076.3(ABRAXAS1):c.1223C>T (p.Thr408Ile)
|
rs368663402
|
0.00001
|
NM_139076.3(ABRAXAS1):c.233G>A (p.Gly78Asp)
|
rs587780265
|
0.00001
|
NM_139076.3(ABRAXAS1):c.271A>G (p.Asn91Asp)
|
rs750097709
|
0.00001
|
NM_139076.3(ABRAXAS1):c.307C>T (p.Arg103Cys)
|
rs748680448
|
0.00001
|
NM_139076.3(ABRAXAS1):c.323A>T (p.Gln108Leu)
|
rs1722533842
|
0.00001
|
NM_139076.3(ABRAXAS1):c.328A>G (p.Met110Val)
|
rs756903113
|
0.00001
|
NM_139076.3(ABRAXAS1):c.333G>A (p.Thr111=)
|
rs751175389
|
0.00001
|
NM_139076.3(ABRAXAS1):c.434C>A (p.Ser145Tyr)
|
rs1017145408
|
0.00001
|
NM_139076.3(ABRAXAS1):c.490G>T (p.Val164Leu)
|
rs781519076
|
0.00001
|
NM_139076.3(ABRAXAS1):c.492A>G (p.Val164=)
|
rs747767327
|
0.00001
|
NM_139076.3(ABRAXAS1):c.575G>A (p.Ser192Asn)
|
rs368006283
|
0.00001
|
NM_139076.3(ABRAXAS1):c.576C>T (p.Ser192=)
|
rs746347317
|
0.00001
|
NM_139076.3(ABRAXAS1):c.578G>A (p.Arg193Gln)
|
rs138594808
|
0.00001
|
NM_139076.3(ABRAXAS1):c.636A>G (p.Val212=)
|
rs1035858335
|
0.00001
|
NM_139076.3(ABRAXAS1):c.658G>A (p.Ala220Thr)
|
rs748861737
|
0.00001
|
NM_139076.3(ABRAXAS1):c.712del (p.Gln238fs)
|
rs771336457
|
0.00001
|
NM_139076.3(ABRAXAS1):c.765G>A (p.Glu255=)
|
rs878855208
|
0.00001
|
NM_139076.3(ABRAXAS1):c.777A>G (p.Gly259=)
|
rs1293484717
|
0.00001
|
NM_139076.3(ABRAXAS1):c.780A>G (p.Ala260=)
|
rs1198547223
|
0.00001
|
NM_139076.3(ABRAXAS1):c.832A>G (p.Ile278Val)
|
rs960772904
|
0.00001
|
NM_139076.3(ABRAXAS1):c.835T>C (p.Phe279Leu)
|
rs748047951
|
0.00001
|
NM_139076.3(ABRAXAS1):c.836T>G (p.Phe279Cys)
|
rs587780268
|
0.00001
|
NM_139076.3(ABRAXAS1):c.854G>A (p.Arg285Gln)
|
rs780076912
|
0.00001
|
NM_139076.3(ABRAXAS1):c.889T>C (p.Cys297Arg)
|
rs745996212
|
0.00001
|
NM_139076.3(ABRAXAS1):c.909T>C (p.Asn303=)
|
rs1342745839
|
0.00001
|
NM_139076.3(ABRAXAS1):c.912A>T (p.Arg304Ser)
|
rs778300694
|
0.00001
|
NM_139076.3(ABRAXAS1):c.916G>C (p.Val306Leu)
|
rs758777622
|
0.00001
|
NM_139076.3(ABRAXAS1):c.952G>A (p.Asp318Asn)
|
rs775345294
|
0.00001
|
NM_139076.3(ABRAXAS1):c.957A>G (p.Val319=)
|
rs746068286
|
0.00001
|
NM_139076.3(ABRAXAS1):c.985C>T (p.His329Tyr)
|
rs1248645578
|
0.00001
|
NM_139076.3(ABRAXAS1):c.986A>G (p.His329Arg)
|
rs778357689
|
0.00001
|
NM_139076.3(ABRAXAS1):c.1003G>A (p.Ala335Thr)
|
|
|
NM_139076.3(ABRAXAS1):c.1010C>T (p.Pro337Leu)
|
|
|
NM_139076.3(ABRAXAS1):c.1011A>G (p.Pro337=)
|
|
|
NM_139076.3(ABRAXAS1):c.1011A>T (p.Pro337=)
|
|
|
NM_139076.3(ABRAXAS1):c.1013C>G (p.Ala338Gly)
|
|
|
NM_139076.3(ABRAXAS1):c.102T>C (p.Leu34=)
|
|
|
NM_139076.3(ABRAXAS1):c.1030A>G (p.Ile344Val)
|
|
|
NM_139076.3(ABRAXAS1):c.1032T>A (p.Ile344=)
|
|
|
NM_139076.3(ABRAXAS1):c.1037A>G (p.His346Arg)
|
|
|
NM_139076.3(ABRAXAS1):c.1042G>T (p.Ala348Ser)
|
rs12642536
|
|
NM_139076.3(ABRAXAS1):c.1043C>T (p.Ala348Val)
|
|
|
NM_139076.3(ABRAXAS1):c.1044C>G (p.Ala348=)
|
|
|
NM_139076.3(ABRAXAS1):c.1047A>C (p.Leu349Phe)
|
|
|
NM_139076.3(ABRAXAS1):c.1049A>C (p.Asp350Ala)
|
|
|
NM_139076.3(ABRAXAS1):c.1056T>A (p.Asp352Glu)
|
rs773812911
|
|
NM_139076.3(ABRAXAS1):c.1059C>T (p.Asp353=)
|
|
|
NM_139076.3(ABRAXAS1):c.1064G>T (p.Trp355Leu)
|
|
|
NM_139076.3(ABRAXAS1):c.1068A>G (p.Gln356=)
|
|
|
NM_139076.3(ABRAXAS1):c.1071C>G (p.Phe357Leu)
|
|
|
NM_139076.3(ABRAXAS1):c.1074G>A (p.Lys358=)
|
|
|
NM_139076.3(ABRAXAS1):c.1076G>A (p.Arg359Lys)
|
|
|
NM_139076.3(ABRAXAS1):c.1081C>T (p.Arg361Trp)
|
|
|
NM_139076.3(ABRAXAS1):c.1082G>T (p.Arg361Leu)
|
|
|
NM_139076.3(ABRAXAS1):c.1083G>A (p.Arg361=)
|
|
|
NM_139076.3(ABRAXAS1):c.1085T>C (p.Leu362Ser)
|
|
|
NM_139076.3(ABRAXAS1):c.1093A>G (p.Thr365Ala)
|
|
|
NM_139076.3(ABRAXAS1):c.1097A>G (p.Gln366Arg)
|
rs1269730495
|
|
NM_139076.3(ABRAXAS1):c.1098A>G (p.Gln366=)
|
|
|
NM_139076.3(ABRAXAS1):c.1106G>A (p.Arg369Gln)
|
|
|
NM_139076.3(ABRAXAS1):c.1106G>T (p.Arg369Leu)
|
rs755313466
|
|
NM_139076.3(ABRAXAS1):c.1108T>G (p.Ser370Ala)
|
|
|
NM_139076.3(ABRAXAS1):c.1109C>T (p.Ser370Phe)
|
|
|
NM_139076.3(ABRAXAS1):c.1112A>C (p.Lys371Thr)
|
|
|
NM_139076.3(ABRAXAS1):c.1114G>C (p.Ala372Pro)
|
rs1722162523
|
|
NM_139076.3(ABRAXAS1):c.1117G>C (p.Asp373His)
|
|
|
NM_139076.3(ABRAXAS1):c.1119T>C (p.Asp373=)
|
|
|
NM_139076.3(ABRAXAS1):c.111A>G (p.Val37=)
|
rs1308142665
|
|
NM_139076.3(ABRAXAS1):c.1123G>C (p.Gly375Arg)
|
|
|
NM_139076.3(ABRAXAS1):c.1124G>C (p.Gly375Ala)
|
rs751122263
|
|
NM_139076.3(ABRAXAS1):c.1125T>C (p.Gly375=)
|
|
|
NM_139076.3(ABRAXAS1):c.1126A>G (p.Ser376Gly)
|
rs1722161264
|
|
NM_139076.3(ABRAXAS1):c.112A>C (p.Lys38Gln)
|
|
|
NM_139076.3(ABRAXAS1):c.1130G>A (p.Ser377Asn)
|
|
|
NM_139076.3(ABRAXAS1):c.1130G>C (p.Ser377Thr)
|
|
|
NM_139076.3(ABRAXAS1):c.1131T>C (p.Ser377=)
|
|
|
NM_139076.3(ABRAXAS1):c.1145C>G (p.Ala382Gly)
|
|
|
NM_139076.3(ABRAXAS1):c.1147T>A (p.Ser383Thr)
|
rs2110032821
|
|
NM_139076.3(ABRAXAS1):c.1150A>C (p.Lys384Gln)
|
|
|
NM_139076.3(ABRAXAS1):c.115G>A (p.Gly39Ser)
|
|
|
NM_139076.3(ABRAXAS1):c.1162C>A (p.Pro388Thr)
|
rs764951890
|
|
NM_139076.3(ABRAXAS1):c.1164A>G (p.Pro388=)
|
|
|
NM_139076.3(ABRAXAS1):c.1168A>C (p.Thr390Pro)
|
|
|
NM_139076.3(ABRAXAS1):c.1172A>G (p.Asp391Gly)
|
|
|
NM_139076.3(ABRAXAS1):c.1176A>C (p.Glu392Asp)
|
|
|
NM_139076.3(ABRAXAS1):c.1179A>C (p.Glu393Asp)
|
|
|
NM_139076.3(ABRAXAS1):c.117T>G (p.Gly39=)
|
|
|
NM_139076.3(ABRAXAS1):c.1180A>G (p.Ile394Val)
|
|
|
NM_139076.3(ABRAXAS1):c.1184A>C (p.Glu395Ala)
|
|
|
NM_139076.3(ABRAXAS1):c.1191G>T (p.Met397Ile)
|
|
|
NM_139076.3(ABRAXAS1):c.1194G>A (p.Lys398=)
|
rs1318264580
|
|
NM_139076.3(ABRAXAS1):c.1194G>C (p.Lys398Asn)
|
|
|
NM_139076.3(ABRAXAS1):c.1198T>G (p.Phe400Val)
|
|
|
NM_139076.3(ABRAXAS1):c.1201G>A (p.Gly401Ser)
|
|
|
NM_139076.3(ABRAXAS1):c.1202G>C (p.Gly401Ala)
|
|
|
NM_139076.3(ABRAXAS1):c.1207T>A (p.Tyr403Asn)
|
|
|
NM_139076.3(ABRAXAS1):c.1211C>T (p.Ser404Leu)
|
rs2110032712
|
|
NM_139076.3(ABRAXAS1):c.1214G>A (p.Arg405Gln)
|
rs200281698
|
|
NM_139076.3(ABRAXAS1):c.1217C>A (p.Ser406Tyr)
|
rs1325575122
|
|
NM_139076.3(ABRAXAS1):c.1217C>T (p.Ser406Phe)
|
|
|
NM_139076.3(ABRAXAS1):c.1220C>T (p.Pro407Leu)
|
|
|
NM_139076.3(ABRAXAS1):c.127A>G (p.Asn43Asp)
|
|
|
NM_139076.3(ABRAXAS1):c.129C>T (p.Asn43=)
|
|
|
NM_139076.3(ABRAXAS1):c.132C>T (p.Ser44=)
|
|
|
NM_139076.3(ABRAXAS1):c.141T>C (p.Asp47=)
|
rs1723020430
|
|
NM_139076.3(ABRAXAS1):c.167T>C (p.Val56Ala)
|
|
|
NM_139076.3(ABRAXAS1):c.170A>G (p.Tyr57Cys)
|
|
|
NM_139076.3(ABRAXAS1):c.176T>A (p.Ile59Asn)
|
rs772825230
|
|
NM_139076.3(ABRAXAS1):c.183T>G (p.Ile61Met)
|
|
|
NM_139076.3(ABRAXAS1):c.184C>G (p.Gln62Glu)
|
|
|
NM_139076.3(ABRAXAS1):c.186G>A (p.Gln62=)
|
|
|
NM_139076.3(ABRAXAS1):c.186G>C (p.Gln62His)
|
|
|
NM_139076.3(ABRAXAS1):c.190T>C (p.Tyr64His)
|
|
|
NM_139076.3(ABRAXAS1):c.192T>C (p.Tyr64=)
|
|
|
NM_139076.3(ABRAXAS1):c.193A>G (p.Ile65Val)
|
|
|
NM_139076.3(ABRAXAS1):c.195T>A (p.Ile65=)
|
|
|
NM_139076.3(ABRAXAS1):c.198A>T (p.Pro66=)
|
|
|
NM_139076.3(ABRAXAS1):c.201C>G (p.Cys67Trp)
|
|
|
NM_139076.3(ABRAXAS1):c.201C>T (p.Cys67=)
|
|
|
NM_139076.3(ABRAXAS1):c.225T>G (p.Asn75Lys)
|
|
|
NM_139076.3(ABRAXAS1):c.234C>A (p.Gly78=)
|
rs765721350
|
|
NM_139076.3(ABRAXAS1):c.235G>A (p.Glu79Lys)
|
|
|
NM_139076.3(ABRAXAS1):c.244G>A (p.Glu82Lys)
|
|
|
NM_139076.3(ABRAXAS1):c.251C>T (p.Ala84Val)
|
|
|
NM_139076.3(ABRAXAS1):c.254T>C (p.Leu85Pro)
|
|
|
NM_139076.3(ABRAXAS1):c.264A>C (p.Ile88=)
|
|
|
NM_139076.3(ABRAXAS1):c.265T>C (p.Leu89=)
|
|
|
NM_139076.3(ABRAXAS1):c.266T>C (p.Leu89Ser)
|
|
|
NM_139076.3(ABRAXAS1):c.275T>C (p.Val92Ala)
|
|
|
NM_139076.3(ABRAXAS1):c.276C>T (p.Val92=)
|
|
|
NM_139076.3(ABRAXAS1):c.278A>G (p.Lys93Arg)
|
|
|
NM_139076.3(ABRAXAS1):c.293G>A (p.Gly98Asp)
|
|
|
NM_139076.3(ABRAXAS1):c.293G>T (p.Gly98Val)
|
|
|
NM_139076.3(ABRAXAS1):c.294T>G (p.Gly98=)
|
|
|
NM_139076.3(ABRAXAS1):c.300C>T (p.Tyr100=)
|
|
|
NM_139076.3(ABRAXAS1):c.302A>G (p.Lys101Arg)
|
|
|
NM_139076.3(ABRAXAS1):c.320A>G (p.Asp107Gly)
|
|
|
NM_139076.3(ABRAXAS1):c.327C>G (p.Ile109Met)
|
rs924277966
|
|
NM_139076.3(ABRAXAS1):c.327C>T (p.Ile109=)
|
rs924277966
|
|
NM_139076.3(ABRAXAS1):c.332C>T (p.Thr111Met)
|
rs1553936765
|
|
NM_139076.3(ABRAXAS1):c.333G>T (p.Thr111=)
|
|
|
NM_139076.3(ABRAXAS1):c.336T>C (p.Phe112=)
|
rs1208655861
|
|
NM_139076.3(ABRAXAS1):c.338G>C (p.Arg113Thr)
|
|
|
NM_139076.3(ABRAXAS1):c.342G>A (p.Glu114=)
|
|
|
NM_139076.3(ABRAXAS1):c.342G>C (p.Glu114Asp)
|
rs1722533185
|
|
NM_139076.3(ABRAXAS1):c.344G>A (p.Arg115Lys)
|
|
|
NM_139076.3(ABRAXAS1):c.346C>A (p.Leu116Met)
|
|
|
NM_139076.3(ABRAXAS1):c.348G>A (p.Leu116=)
|
|
|
NM_139076.3(ABRAXAS1):c.348G>C (p.Leu116=)
|
|
|
NM_139076.3(ABRAXAS1):c.349C>A (p.Leu117Ile)
|
rs765150557
|
|
NM_139076.3(ABRAXAS1):c.350T>C (p.Leu117Pro)
|
|
|
NM_139076.3(ABRAXAS1):c.351T>C (p.Leu117=)
|
|
|
NM_139076.3(ABRAXAS1):c.354C>G (p.His118Gln)
|
|
|
NM_139076.3(ABRAXAS1):c.366G>A (p.Gln122=)
|
|
|
NM_139076.3(ABRAXAS1):c.369G>A (p.Glu123=)
|
rs1722531723
|
|
NM_139076.3(ABRAXAS1):c.370C>A (p.His124Asn)
|
|
|
NM_139076.3(ABRAXAS1):c.370C>G (p.His124Asp)
|
|
|
NM_139076.3(ABRAXAS1):c.371A>G (p.His124Arg)
|
|
|
NM_139076.3(ABRAXAS1):c.375T>G (p.Phe125Leu)
|
|
|
NM_139076.3(ABRAXAS1):c.383A>G (p.Gln128Arg)
|
|
|
NM_139076.3(ABRAXAS1):c.386A>G (p.Asp129Gly)
|
|
|
NM_139076.3(ABRAXAS1):c.388C>G (p.Leu130Val)
|
|
|
NM_139076.3(ABRAXAS1):c.391G>T (p.Val131Phe)
|
|
|
NM_139076.3(ABRAXAS1):c.401T>G (p.Leu134Arg)
|
|
|
NM_139076.3(ABRAXAS1):c.402A>T (p.Leu134=)
|
|
|
NM_139076.3(ABRAXAS1):c.403T>C (p.Leu135=)
|
|
|
NM_139076.3(ABRAXAS1):c.409C>T (p.Pro137Ser)
|
|
|
NM_139076.3(ABRAXAS1):c.413G>A (p.Ser138Asn)
|
|
|
NM_139076.3(ABRAXAS1):c.414T>G (p.Ser138Arg)
|
rs1722530567
|
|
NM_139076.3(ABRAXAS1):c.419T>C (p.Ile140Thr)
|
|
|
NM_139076.3(ABRAXAS1):c.424G>C (p.Glu142Gln)
|
|
|
NM_139076.3(ABRAXAS1):c.426A>G (p.Glu142=)
|
|
|
NM_139076.3(ABRAXAS1):c.429C>T (p.Ser143=)
|
|
|
NM_139076.3(ABRAXAS1):c.430T>A (p.Cys144Ser)
|
|
|
NM_139076.3(ABRAXAS1):c.431G>A (p.Cys144Tyr)
|
|
|
NM_139076.3(ABRAXAS1):c.436A>G (p.Thr146Ala)
|
rs1472680353
|
|
NM_139076.3(ABRAXAS1):c.443G>A (p.Arg148Gln)
|
rs760079258
|
|
NM_139076.3(ABRAXAS1):c.443G>T (p.Arg148Leu)
|
rs760079258
|
|
NM_139076.3(ABRAXAS1):c.450A>G (p.Glu150=)
|
|
|
NM_139076.3(ABRAXAS1):c.452A>G (p.His151Arg)
|
|
|
NM_139076.3(ABRAXAS1):c.456C>T (p.Ser152=)
|
|
|
NM_139076.3(ABRAXAS1):c.460T>C (p.Tyr154His)
|
|
|
NM_139076.3(ABRAXAS1):c.461A>G (p.Tyr154Cys)
|
|
|
NM_139076.3(ABRAXAS1):c.477A>G (p.Gly159=)
|
rs1722491084
|
|
NM_139076.3(ABRAXAS1):c.489G>C (p.Arg163Ser)
|
|
|
NM_139076.3(ABRAXAS1):c.492A>C (p.Val164=)
|
|
|
NM_139076.3(ABRAXAS1):c.493C>T (p.Pro165Ser)
|
|
|
NM_139076.3(ABRAXAS1):c.494C>T (p.Pro165Leu)
|
|
|
NM_139076.3(ABRAXAS1):c.497T>C (p.Leu166Ser)
|
|
|
NM_139076.3(ABRAXAS1):c.499G>C (p.Val167Leu)
|
|
|
NM_139076.3(ABRAXAS1):c.508A>G (p.Asn170Asp)
|
|
|
NM_139076.3(ABRAXAS1):c.509A>G (p.Asn170Ser)
|
|
|
NM_139076.3(ABRAXAS1):c.517A>G (p.Met173Val)
|
|
|
NM_139076.3(ABRAXAS1):c.518T>C (p.Met173Thr)
|
rs587780266
|
|
NM_139076.3(ABRAXAS1):c.531G>A (p.Leu177=)
|
|
|
NM_139076.3(ABRAXAS1):c.545T>C (p.Val182Ala)
|
|
|
NM_139076.3(ABRAXAS1):c.546A>G (p.Val182=)
|
|
|
NM_139076.3(ABRAXAS1):c.551G>T (p.Gly184Val)
|
|
|
NM_139076.3(ABRAXAS1):c.552T>C (p.Gly184=)
|
|
|
NM_139076.3(ABRAXAS1):c.556T>C (p.Cys186Arg)
|
|
|
NM_139076.3(ABRAXAS1):c.582A>G (p.Ala194=)
|
rs772212241
|
|
NM_139076.3(ABRAXAS1):c.588A>G (p.Gln196=)
|
|
|
NM_139076.3(ABRAXAS1):c.595A>C (p.Ser199Arg)
|
rs1722484545
|
|
NM_139076.3(ABRAXAS1):c.597C>T (p.Ser199=)
|
|
|
NM_139076.3(ABRAXAS1):c.601A>G (p.Lys201Glu)
|
|
|
NM_139076.3(ABRAXAS1):c.603A>T (p.Lys201Asn)
|
|
|
NM_139076.3(ABRAXAS1):c.615A>T (p.Glu205Asp)
|
|
|
NM_139076.3(ABRAXAS1):c.616G>C (p.Asp206His)
|
|
|
NM_139076.3(ABRAXAS1):c.617A>G (p.Asp206Gly)
|
|
|
NM_139076.3(ABRAXAS1):c.618T>A (p.Asp206Glu)
|
|
|
NM_139076.3(ABRAXAS1):c.618T>C (p.Asp206=)
|
|
|
NM_139076.3(ABRAXAS1):c.619G>A (p.Gly207Arg)
|
|
|
NM_139076.3(ABRAXAS1):c.620G>A (p.Gly207Glu)
|
|
|
NM_139076.3(ABRAXAS1):c.621A>G (p.Gly207=)
|
|
|
NM_139076.3(ABRAXAS1):c.623C>T (p.Ser208Phe)
|
|
|
NM_139076.3(ABRAXAS1):c.624C>A (p.Ser208=)
|
|
|
NM_139076.3(ABRAXAS1):c.626T>C (p.Leu209Ser)
|
|
|
NM_139076.3(ABRAXAS1):c.633G>A (p.Glu211=)
|
|
|
NM_139076.3(ABRAXAS1):c.634G>C (p.Val212Leu)
|
|
|
NM_139076.3(ABRAXAS1):c.638A>C (p.His213Pro)
|
|
|
NM_139076.3(ABRAXAS1):c.638A>G (p.His213Arg)
|
|
|
NM_139076.3(ABRAXAS1):c.642G>A (p.Lys214=)
|
|
|
NM_139076.3(ABRAXAS1):c.656A>G (p.Tyr219Cys)
|
|
|
NM_139076.3(ABRAXAS1):c.657T>C (p.Tyr219=)
|
|
|
NM_139076.3(ABRAXAS1):c.660T>C (p.Ala220=)
|
|
|
NM_139076.3(ABRAXAS1):c.661T>C (p.Ser221Pro)
|
|
|
NM_139076.3(ABRAXAS1):c.670G>A (p.Glu224Lys)
|
|
|
NM_139076.3(ABRAXAS1):c.678A>G (p.Leu226=)
|
|
|
NM_139076.3(ABRAXAS1):c.682-13_682-9del
|
rs724159832
|
|
NM_139076.3(ABRAXAS1):c.696A>G (p.Lys232=)
|
|
|
NM_139076.3(ABRAXAS1):c.698T>C (p.Val233Ala)
|
rs2110034075
|
|
NM_139076.3(ABRAXAS1):c.699G>A (p.Val233=)
|
rs1187186600
|
|
NM_139076.3(ABRAXAS1):c.705C>T (p.Asp235=)
|
|
|
NM_139076.3(ABRAXAS1):c.716C>A (p.Ala239Glu)
|
|
|
NM_139076.3(ABRAXAS1):c.721G>A (p.Asp241Asn)
|
|
|
NM_139076.3(ABRAXAS1):c.736G>A (p.Asp246Asn)
|
|
|
NM_139076.3(ABRAXAS1):c.739G>A (p.Val247Ile)
|
|
|
NM_139076.3(ABRAXAS1):c.746G>T (p.Arg249Ile)
|
|
|
NM_139076.3(ABRAXAS1):c.747A>T (p.Arg249Ser)
|
rs1722231029
|
|
NM_139076.3(ABRAXAS1):c.753A>G (p.Lys251=)
|
|
|
NM_139076.3(ABRAXAS1):c.761T>C (p.Ile254Thr)
|
|
|
NM_139076.3(ABRAXAS1):c.769A>G (p.Arg257Gly)
|
|
|
NM_139076.3(ABRAXAS1):c.770G>T (p.Arg257Met)
|
|
|
NM_139076.3(ABRAXAS1):c.774A>G (p.Arg258=)
|
|
|
NM_139076.3(ABRAXAS1):c.776G>A (p.Gly259Glu)
|
|
|
NM_139076.3(ABRAXAS1):c.778G>A (p.Ala260Thr)
|
|
|
NM_139076.3(ABRAXAS1):c.778G>C (p.Ala260Pro)
|
|
|
NM_139076.3(ABRAXAS1):c.779C>T (p.Ala260Val)
|
|
|
NM_139076.3(ABRAXAS1):c.781C>A (p.Gln261Lys)
|
|
|
NM_139076.3(ABRAXAS1):c.787C>G (p.Gln263Glu)
|
rs199541299
|
|
NM_139076.3(ABRAXAS1):c.792A>C (p.Ala264=)
|
|
|
NM_139076.3(ABRAXAS1):c.792A>T (p.Ala264=)
|
|
|
NM_139076.3(ABRAXAS1):c.793G>A (p.Ala265Thr)
|
|
|
NM_139076.3(ABRAXAS1):c.793G>C (p.Ala265Pro)
|
|
|
NM_139076.3(ABRAXAS1):c.813A>G (p.Gln271=)
|
|
|
NM_139076.3(ABRAXAS1):c.814A>G (p.Lys272Glu)
|
|
|
NM_139076.3(ABRAXAS1):c.817G>C (p.Asp273His)
|
|
|
NM_139076.3(ABRAXAS1):c.820C>G (p.Pro274Ala)
|
rs1060503252
|
|
NM_139076.3(ABRAXAS1):c.820C>T (p.Pro274Ser)
|
rs1060503252
|
|
NM_139076.3(ABRAXAS1):c.821C>T (p.Pro274Leu)
|
|
|
NM_139076.3(ABRAXAS1):c.828G>C (p.Glu276Asp)
|
rs2110033350
|
|
NM_139076.3(ABRAXAS1):c.831C>T (p.Asn277=)
|
|
|
NM_139076.3(ABRAXAS1):c.833T>G (p.Ile278Ser)
|
rs587780267
|
|
NM_139076.3(ABRAXAS1):c.835T>A (p.Phe279Ile)
|
|
|
NM_139076.3(ABRAXAS1):c.837T>C (p.Phe279=)
|
rs1578122554
|
|
NM_139076.3(ABRAXAS1):c.840T>C (p.Leu280=)
|
|
|
NM_139076.3(ABRAXAS1):c.842G>A (p.Cys281Tyr)
|
|
|
NM_139076.3(ABRAXAS1):c.844C>G (p.Gln282Glu)
|
|
|
NM_139076.3(ABRAXAS1):c.845A>G (p.Gln282Arg)
|
|
|
NM_139076.3(ABRAXAS1):c.846G>T (p.Gln282His)
|
|
|
NM_139076.3(ABRAXAS1):c.847G>A (p.Ala283Thr)
|
|
|
NM_139076.3(ABRAXAS1):c.849A>G (p.Ala283=)
|
|
|
NM_139076.3(ABRAXAS1):c.850T>C (p.Leu284=)
|
|
|
NM_139076.3(ABRAXAS1):c.856A>C (p.Thr286Pro)
|
|
|
NM_139076.3(ABRAXAS1):c.863T>C (p.Phe288Ser)
|
|
|
NM_139076.3(ABRAXAS1):c.871T>A (p.Ser291Thr)
|
rs2110033286
|
|
NM_139076.3(ABRAXAS1):c.887C>T (p.Ser296Leu)
|
|
|
NM_139076.3(ABRAXAS1):c.888A>G (p.Ser296=)
|
|
|
NM_139076.3(ABRAXAS1):c.88G>A (p.Glu30Lys)
|
|
|
NM_139076.3(ABRAXAS1):c.891T>C (p.Cys297=)
|
|
|
NM_139076.3(ABRAXAS1):c.894T>C (p.Val298=)
|
rs1560570842
|
|
NM_139076.3(ABRAXAS1):c.896T>C (p.Met299Thr)
|
|
|
NM_139076.3(ABRAXAS1):c.896T>G (p.Met299Arg)
|
|
|
NM_139076.3(ABRAXAS1):c.897G>C (p.Met299Ile)
|
|
|
NM_139076.3(ABRAXAS1):c.89A>C (p.Glu30Ala)
|
|
|
NM_139076.3(ABRAXAS1):c.902T>C (p.Leu301Ser)
|
|
|
NM_139076.3(ABRAXAS1):c.906A>G (p.Lys302=)
|
|
|
NM_139076.3(ABRAXAS1):c.907A>G (p.Asn303Asp)
|
|
|
NM_139076.3(ABRAXAS1):c.908A>T (p.Asn303Ile)
|
|
|
NM_139076.3(ABRAXAS1):c.914A>G (p.His305Arg)
|
rs1438058565
|
|
NM_139076.3(ABRAXAS1):c.915T>C (p.His305=)
|
rs587780269
|
|
NM_139076.3(ABRAXAS1):c.920C>G (p.Ser307Cys)
|
|
|
NM_139076.3(ABRAXAS1):c.922A>G (p.Lys308Glu)
|
|
|
NM_139076.3(ABRAXAS1):c.928A>G (p.Ser310Gly)
|
|
|
NM_139076.3(ABRAXAS1):c.929G>A (p.Ser310Asn)
|
|
|
NM_139076.3(ABRAXAS1):c.932G>A (p.Cys311Tyr)
|
|
|
NM_139076.3(ABRAXAS1):c.942C>T (p.Asn314=)
|
rs2110033173
|
|
NM_139076.3(ABRAXAS1):c.945C>G (p.His315Gln)
|
rs1578122388
|
|
NM_139076.3(ABRAXAS1):c.956T>C (p.Val319Ala)
|
|
|
NM_139076.3(ABRAXAS1):c.958G>A (p.Val320Ile)
|
|
|
NM_139076.3(ABRAXAS1):c.959T>C (p.Val320Ala)
|
|
|
NM_139076.3(ABRAXAS1):c.964A>G (p.Asn322Asp)
|
|
|
NM_139076.3(ABRAXAS1):c.965A>G (p.Asn322Ser)
|
|
|
NM_139076.3(ABRAXAS1):c.971C>A (p.Thr324Asn)
|
|
|
NM_139076.3(ABRAXAS1):c.971C>G (p.Thr324Ser)
|
|
|
NM_139076.3(ABRAXAS1):c.971C>T (p.Thr324Ile)
|
|
|
NM_139076.3(ABRAXAS1):c.974T>C (p.Leu325Ser)
|
|
|
NM_139076.3(ABRAXAS1):c.981A>G (p.Val327=)
|
|
|
NM_139076.3(ABRAXAS1):c.984A>G (p.Glu328=)
|
|
|
NM_139076.3(ABRAXAS1):c.992A>C (p.Asp331Ala)
|
|
|
NM_139076.3(ABRAXAS1):c.993C>A (p.Asp331Glu)
|
|
|
NM_139076.3(ABRAXAS1):c.994A>T (p.Ile332Phe)
|
|
|
NM_139076.3(ABRAXAS1):c.997C>G (p.Pro333Ala)
|
|
|
NM_139076.3(ABRAXAS1):c.997C>T (p.Pro333Ser)
|
|
|
NM_139076.3(ABRAXAS1):c.998C>T (p.Pro333Leu)
|
|
|