ClinVar Miner

List of variants in gene ABRAXAS1 reported by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 350
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HGVS dbSNP gnomAD frequency
NM_139076.3(ABRAXAS1):c.1042G>A (p.Ala348Thr) rs12642536 0.35927
NM_139076.3(ABRAXAS1):c.1117G>A (p.Asp373Asn) rs13125836 0.04174
NM_139076.3(ABRAXAS1):c.951C>T (p.Leu317=) rs79357787 0.00772
NM_139076.3(ABRAXAS1):c.422C>T (p.Thr141Ile) rs150207999 0.00469
NM_139076.3(ABRAXAS1):c.476+18A>T rs199567861 0.00096
NM_139076.3(ABRAXAS1):c.755G>A (p.Arg252Gln) rs114513239 0.00083
NM_139076.3(ABRAXAS1):c.917T>C (p.Val306Ala) rs138986552 0.00080
NM_139076.3(ABRAXAS1):c.897G>A (p.Met299Ile) rs140407442 0.00070
NM_139076.3(ABRAXAS1):c.680A>C (p.Lys227Thr) rs149091407 0.00043
NM_139076.3(ABRAXAS1):c.1011del (p.Ala338fs) rs764429803 0.00031
NM_139076.3(ABRAXAS1):c.1056T>G (p.Asp352Glu) rs773812911 0.00029
NM_139076.3(ABRAXAS1):c.594C>T (p.His198=) rs144724610 0.00029
NM_139076.3(ABRAXAS1):c.125A>G (p.Lys42Arg) rs201948472 0.00028
NM_139076.3(ABRAXAS1):c.797-19G>A rs199624910 0.00026
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.116G>T (p.Gly39Val) rs762424001 0.00009
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.1214G>C (p.Arg405Pro) rs200281698 0.00006
NM_139076.3(ABRAXAS1):c.178+9T>C rs367733190 0.00006
NM_139076.3(ABRAXAS1):c.1106dup (p.Ser370fs) rs587780262 0.00005
NM_139076.3(ABRAXAS1):c.1139A>G (p.Asp380Gly) rs587780264 0.00005
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.289G>A (p.Val97Ile) rs367592316 0.00004
NM_139076.3(ABRAXAS1):c.577C>T (p.Arg193Ter) rs201698934 0.00004
NM_139076.3(ABRAXAS1):c.580G>T (p.Ala194Ser) rs1020540603 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.88-7T>C rs796205057 0.00004
NM_139076.3(ABRAXAS1):c.1036C>T (p.His346Tyr) rs755755614 0.00003
NM_139076.3(ABRAXAS1):c.1106G>A (p.Arg369Gln) rs755313466 0.00003
NM_139076.3(ABRAXAS1):c.179-12C>G rs773912114 0.00003
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.781C>G (p.Gln261Glu) rs373605348 0.00003
NM_139076.3(ABRAXAS1):c.797-11A>C rs776370144 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.1124G>A (p.Gly375Asp) rs751122263 0.00002
NM_139076.3(ABRAXAS1):c.1125T>C (p.Gly375=) rs1351769121 0.00002
NM_139076.3(ABRAXAS1):c.139G>C (p.Asp47His) rs764540685 0.00002
NM_139076.3(ABRAXAS1):c.265T>C (p.Leu89=) rs1016451915 0.00002
NM_139076.3(ABRAXAS1):c.310C>T (p.Arg104Cys) rs779497289 0.00002
NM_139076.3(ABRAXAS1):c.404T>A (p.Leu135Ter) rs765697539 0.00002
NM_139076.3(ABRAXAS1):c.433T>C (p.Ser145Pro) rs886983641 0.00002
NM_139076.3(ABRAXAS1):c.500T>C (p.Val167Ala) rs1166739614 0.00002
NM_139076.3(ABRAXAS1):c.536A>G (p.Tyr179Cys) rs774586693 0.00002
NM_139076.3(ABRAXAS1):c.662C>T (p.Ser221Leu) rs1415231112 0.00002
NM_139076.3(ABRAXAS1):c.682-14A>G rs370019011 0.00002
NM_139076.3(ABRAXAS1):c.699G>A (p.Val233=) rs1187186600 0.00002
NM_139076.3(ABRAXAS1):c.918T>C (p.Val306=) rs766011574 0.00002
NM_139076.3(ABRAXAS1):c.937T>C (p.Tyr313His) rs1722179072 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.1038T>C (p.His346=) rs750046185 0.00001
NM_139076.3(ABRAXAS1):c.103G>C (p.Gly35Arg) rs749184518 0.00001
NM_139076.3(ABRAXAS1):c.1063T>C (p.Trp355Arg) rs1340605631 0.00001
NM_139076.3(ABRAXAS1):c.1089A>G (p.Leu363=) rs1454883559 0.00001
NM_139076.3(ABRAXAS1):c.1093A>G (p.Thr365Ala) rs1422799528 0.00001
NM_139076.3(ABRAXAS1):c.1102_1104del (p.Lys368del) rs878855206 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.144C>T (p.Ser48=) rs763350470 0.00001
NM_139076.3(ABRAXAS1):c.178+18C>T rs748143173 0.00001
NM_139076.3(ABRAXAS1):c.215+16_215+17insT rs769469869 0.00001
NM_139076.3(ABRAXAS1):c.216-11G>T rs1167031221 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.278A>G (p.Lys93Arg) rs1230543521 0.00001
NM_139076.3(ABRAXAS1):c.299A>T (p.Tyr100Phe) rs878855207 0.00001
NM_139076.3(ABRAXAS1):c.307C>T (p.Arg103Cys) rs748680448 0.00001
NM_139076.3(ABRAXAS1):c.308G>A (p.Arg103His) rs200068246 0.00001
NM_139076.3(ABRAXAS1):c.311G>A (p.Arg104His) rs542570943 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.332C>T (p.Thr111Met) rs1553936765 0.00001
NM_139076.3(ABRAXAS1):c.333G>A (p.Thr111=) rs751175389 0.00001
NM_139076.3(ABRAXAS1):c.416T>C (p.Ile139Thr) rs780316562 0.00001
NM_139076.3(ABRAXAS1):c.434C>A (p.Ser145Tyr) rs1017145408 0.00001
NM_139076.3(ABRAXAS1):c.442C>T (p.Arg148Ter) rs1046873224 0.00001
NM_139076.3(ABRAXAS1):c.447G>A (p.Leu149=) rs758037982 0.00001
NM_139076.3(ABRAXAS1):c.461A>G (p.Tyr154Cys) rs764782835 0.00001
NM_139076.3(ABRAXAS1):c.473A>T (p.Lys158Ile) rs1445851548 0.00001
NM_139076.3(ABRAXAS1):c.476+5A>C rs753767582 0.00001
NM_139076.3(ABRAXAS1):c.477-13T>C rs1284794023 0.00001
NM_139076.3(ABRAXAS1):c.489G>T (p.Arg163Ser) rs535462791 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.522T>C (p.Ser174=) rs567936741 0.00001
NM_139076.3(ABRAXAS1):c.575G>A (p.Ser192Asn) rs368006283 0.00001
NM_139076.3(ABRAXAS1):c.578G>A (p.Arg193Gln) rs138594808 0.00001
NM_139076.3(ABRAXAS1):c.586C>T (p.Gln196Ter) rs1453713620 0.00001
NM_139076.3(ABRAXAS1):c.596+9C>A rs778567938 0.00001
NM_139076.3(ABRAXAS1):c.596G>A (p.Ser199Asn) rs1060503253 0.00001
NM_139076.3(ABRAXAS1):c.597-10T>A rs752868005 0.00001
NM_139076.3(ABRAXAS1):c.597-4A>C rs765266353 0.00001
NM_139076.3(ABRAXAS1):c.597C>T (p.Ser199=) rs760067070 0.00001
NM_139076.3(ABRAXAS1):c.602A>C (p.Lys201Thr) rs1722418479 0.00001
NM_139076.3(ABRAXAS1):c.603A>T (p.Lys201Asn) rs777073943 0.00001
NM_139076.3(ABRAXAS1):c.636A>G (p.Val212=) rs1035858335 0.00001
NM_139076.3(ABRAXAS1):c.649G>T (p.Glu217Ter) rs1164568228 0.00001
NM_139076.3(ABRAXAS1):c.658G>A (p.Ala220Thr) rs748861737 0.00001
NM_139076.3(ABRAXAS1):c.681+13A>C rs751425191 0.00001
NM_139076.3(ABRAXAS1):c.712del (p.Gln238fs) rs771336457 0.00001
NM_139076.3(ABRAXAS1):c.735G>T (p.Lys245Asn) rs1230517929 0.00001
NM_139076.3(ABRAXAS1):c.747A>T (p.Arg249Ser) rs1722231029 0.00001
NM_139076.3(ABRAXAS1):c.765G>A (p.Glu255=) rs878855208 0.00001
NM_139076.3(ABRAXAS1):c.768A>G (p.Lys256=) rs1362183388 0.00001
NM_139076.3(ABRAXAS1):c.780A>G (p.Ala260=) rs1198547223 0.00001
NM_139076.3(ABRAXAS1):c.787C>G (p.Gln263Glu) rs199541299 0.00001
NM_139076.3(ABRAXAS1):c.796+13C>T rs770303098 0.00001
NM_139076.3(ABRAXAS1):c.796+1G>A rs1262378912 0.00001
NM_139076.3(ABRAXAS1):c.797-20T>G rs1183666399 0.00001
NM_139076.3(ABRAXAS1):c.813A>G (p.Gln271=) rs1722191467 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.88-3T>C rs1419334464 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.920C>G (p.Ser307Cys) rs760360071 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.959T>C (p.Val320Ala) rs781160014 0.00001
NM_139076.3(ABRAXAS1):c.965A>G (p.Asn322Ser) rs771082457 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
NC_000004.11:g.(?_84383622)_(84406225_?)del
NC_000004.11:g.(?_84383622)_(84406225_?)dup
NC_000004.11:g.(?_84391526)_(84391832_?)del
NC_000004.11:g.(?_84393365)_(84393451_?)dup
NC_000004.12:g.(?_83462459)_(83485082_?)dup
NC_000004.12:g.(?_83482144)_(83485072_?)dup
NM_139076.3(ABRAXAS1):c.1015A>G (p.Ser339Gly) rs2529418499
NM_139076.3(ABRAXAS1):c.1018A>G (p.Thr340Ala) rs758969039
NM_139076.3(ABRAXAS1):c.1022C>T (p.Pro341Leu) rs1722173605
NM_139076.3(ABRAXAS1):c.102T>C (p.Leu34=) rs1723022539
NM_139076.3(ABRAXAS1):c.1032dup (p.Lys345Ter) rs587780261
NM_139076.3(ABRAXAS1):c.1033A>G (p.Lys345Glu) rs1722172481
NM_139076.3(ABRAXAS1):c.1042G>T (p.Ala348Ser) rs12642536
NM_139076.3(ABRAXAS1):c.1051T>C (p.Leu351=) rs1578122288
NM_139076.3(ABRAXAS1):c.1056T>A (p.Asp352Glu) rs773812911
NM_139076.3(ABRAXAS1):c.1056T>C (p.Asp352=) rs773812911
NM_139076.3(ABRAXAS1):c.1057G>A (p.Asp353Asn) rs1578122280
NM_139076.3(ABRAXAS1):c.1058A>G (p.Asp353Gly) rs762929045
NM_139076.3(ABRAXAS1):c.1066C>A (p.Gln356Lys) rs2110032968
NM_139076.3(ABRAXAS1):c.1074G>A (p.Lys358=) rs1272784538
NM_139076.3(ABRAXAS1):c.1082G>C (p.Arg361Pro) rs201627097
NM_139076.3(ABRAXAS1):c.1095A>G (p.Thr365=) rs748650098
NM_139076.3(ABRAXAS1):c.1097A>G (p.Gln366Arg) rs1269730495
NM_139076.3(ABRAXAS1):c.1101C>T (p.Asp367=) rs779168599
NM_139076.3(ABRAXAS1):c.1105C>T (p.Arg369Ter) rs1560570544
NM_139076.3(ABRAXAS1):c.1106G>T (p.Arg369Leu) rs755313466
NM_139076.3(ABRAXAS1):c.1114G>C (p.Ala372Pro) rs1722162523
NM_139076.3(ABRAXAS1):c.111A>G (p.Val37=) rs1308142665
NM_139076.3(ABRAXAS1):c.1123G>C (p.Gly375Arg) rs756892998
NM_139076.3(ABRAXAS1):c.1124G>C (p.Gly375Ala) rs751122263
NM_139076.3(ABRAXAS1):c.1126A>G (p.Ser376Gly) rs1722161264
NM_139076.3(ABRAXAS1):c.1131T>C (p.Ser377=) rs2529418052
NM_139076.3(ABRAXAS1):c.113A>C (p.Lys38Thr) rs1723021960
NM_139076.3(ABRAXAS1):c.1143dup (p.Ala382fs) rs1327418487
NM_139076.3(ABRAXAS1):c.1144G>C (p.Ala382Pro) rs1038252853
NM_139076.3(ABRAXAS1):c.1147T>A (p.Ser383Thr) rs2110032821
NM_139076.3(ABRAXAS1):c.1154T>C (p.Met385Thr) rs1158665632
NM_139076.3(ABRAXAS1):c.1162C>A (p.Pro388Thr) rs764951890
NM_139076.3(ABRAXAS1):c.1162C>G (p.Pro388Ala) rs764951890
NM_139076.3(ABRAXAS1):c.1163C>T (p.Pro388Leu) rs759305711
NM_139076.3(ABRAXAS1):c.1170A>G (p.Thr390=) rs776562122
NM_139076.3(ABRAXAS1):c.1180A>C (p.Ile394Leu) rs1560570462
NM_139076.3(ABRAXAS1):c.1181T>C (p.Ile394Thr) rs2110032759
NM_139076.3(ABRAXAS1):c.1194G>A (p.Lys398=) rs1318264580
NM_139076.3(ABRAXAS1):c.1206A>G (p.Glu402=) rs1553936008
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.121G>A (p.Ala41Thr) rs1723021568
NM_139076.3(ABRAXAS1):c.122C>T (p.Ala41Val) rs780156756
NM_139076.3(ABRAXAS1):c.132C>T (p.Ser44=) rs2529465285
NM_139076.3(ABRAXAS1):c.141T>C (p.Asp47=) rs1723020430
NM_139076.3(ABRAXAS1):c.160G>C (p.Glu54Gln) rs2529465211
NM_139076.3(ABRAXAS1):c.175A>G (p.Ile59Val) rs1428512699
NM_139076.3(ABRAXAS1):c.176T>A (p.Ile59Asn) rs772825230
NM_139076.3(ABRAXAS1):c.176T>C (p.Ile59Thr) rs772825230
NM_139076.3(ABRAXAS1):c.178+17T>C rs1458139715
NM_139076.3(ABRAXAS1):c.178+3G>A rs2110049260
NM_139076.3(ABRAXAS1):c.179-14T>C rs1722782347
NM_139076.3(ABRAXAS1):c.189A>G (p.Lys63=) rs2529452321
NM_139076.3(ABRAXAS1):c.190T>C (p.Tyr64His) rs768638289
NM_139076.3(ABRAXAS1):c.192T>C (p.Tyr64=) rs1353085385
NM_139076.3(ABRAXAS1):c.198A>T (p.Pro66=) rs1466488893
NM_139076.3(ABRAXAS1):c.215+11G>A rs2529452220
NM_139076.3(ABRAXAS1):c.215+15T>C rs2529452198
NM_139076.3(ABRAXAS1):c.215+1G>A rs2110044831
NM_139076.3(ABRAXAS1):c.215G>A (p.Ser72Asn) rs2110044834
NM_139076.3(ABRAXAS1):c.216-22_216-20del
NM_139076.3(ABRAXAS1):c.231A>C (p.Ser77=) rs2110041429
NM_139076.3(ABRAXAS1):c.234C>A (p.Gly78=) rs765721350
NM_139076.3(ABRAXAS1):c.234C>T (p.Gly78=) rs765721350
NM_139076.3(ABRAXAS1):c.250G>A (p.Ala84Thr) rs1404975428
NM_139076.3(ABRAXAS1):c.268_270dup (p.Ser90dup) rs2110041387
NM_139076.3(ABRAXAS1):c.282+8C>G rs1722610708
NM_139076.3(ABRAXAS1):c.283-17T>C rs778038758
NM_139076.3(ABRAXAS1):c.283-283_306del rs1722534884
NM_139076.3(ABRAXAS1):c.291A>G (p.Val97=) rs2529438476
NM_139076.3(ABRAXAS1):c.308G>T (p.Arg103Leu) rs200068246
NM_139076.3(ABRAXAS1):c.320A>T (p.Asp107Val) rs1578128583
NM_139076.3(ABRAXAS1):c.327C>A (p.Ile109=)
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.336T>C (p.Phe112=) rs1208655861
NM_139076.3(ABRAXAS1):c.339A>G (p.Arg113=) rs2110039783
NM_139076.3(ABRAXAS1):c.342G>C (p.Glu114Asp) rs1722533185
NM_139076.3(ABRAXAS1):c.349C>A (p.Leu117Ile) rs765150557
NM_139076.3(ABRAXAS1):c.358A>T (p.Asn120Tyr)
NM_139076.3(ABRAXAS1):c.364C>G (p.Gln122Glu) rs137876115
NM_139076.3(ABRAXAS1):c.364C>T (p.Gln122Ter) rs137876115
NM_139076.3(ABRAXAS1):c.368A>G (p.Glu123Gly) rs2529438185
NM_139076.3(ABRAXAS1):c.369G>A (p.Glu123=) rs1722531723
NM_139076.3(ABRAXAS1):c.375T>G (p.Phe125Leu) rs2529438150
NM_139076.3(ABRAXAS1):c.381C>G (p.Asn127Lys) rs201470211
NM_139076.3(ABRAXAS1):c.408A>C (p.Thr136=) rs2110039706
NM_139076.3(ABRAXAS1):c.410C>T (p.Pro137Leu) rs1560574581
NM_139076.3(ABRAXAS1):c.415A>G (p.Ile139Val) rs2110039689
NM_139076.3(ABRAXAS1):c.416TAA[1] (p.Ile140del) rs758151655
NM_139076.3(ABRAXAS1):c.417A>G (p.Ile139Met) rs1722530322
NM_139076.3(ABRAXAS1):c.431G>A (p.Cys144Tyr) rs1412096015
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.455C>A (p.Ser152Tyr)
NM_139076.3(ABRAXAS1):c.456C>T (p.Ser152=) rs2529437870
NM_139076.3(ABRAXAS1):c.456del (p.Leu153fs) rs1578128367
NM_139076.3(ABRAXAS1):c.464A>C (p.Lys155Thr) rs1330016704
NM_139076.3(ABRAXAS1):c.467C>T (p.Pro156Leu) rs1722527633
NM_139076.3(ABRAXAS1):c.469C>T (p.Gln157Ter) rs1722527531
NM_139076.3(ABRAXAS1):c.476+15G>T rs2110039580
NM_139076.3(ABRAXAS1):c.477-12T>A rs2110038787
NM_139076.3(ABRAXAS1):c.477-12T>C rs2110038787
NM_139076.3(ABRAXAS1):c.477-18A>G rs776009781
NM_139076.3(ABRAXAS1):c.477-19_477-18del rs2529435632
NM_139076.3(ABRAXAS1):c.477-1G>T
NM_139076.3(ABRAXAS1):c.477-6T>C rs2110038777
NM_139076.3(ABRAXAS1):c.477A>G (p.Gly159=) rs1722491084
NM_139076.3(ABRAXAS1):c.496T>C (p.Leu166=) rs1060504866
NM_139076.3(ABRAXAS1):c.505G>A (p.Ala169Thr) rs2110038721
NM_139076.3(ABRAXAS1):c.514_515delinsAA (p.Gly172Asn) rs2529435445
NM_139076.3(ABRAXAS1):c.515G>T (p.Gly172Val) rs766408024
NM_139076.3(ABRAXAS1):c.543T>C (p.Thr181=) rs2529435358
NM_139076.3(ABRAXAS1):c.555C>T (p.Ser185=) rs1578127501
NM_139076.3(ABRAXAS1):c.556T>C (p.Cys186Arg) rs2529435291
NM_139076.3(ABRAXAS1):c.558dup (p.Met187fs) rs1722486804
NM_139076.3(ABRAXAS1):c.562T>C (p.Ser188Pro) rs1229781720
NM_139076.3(ABRAXAS1):c.571T>G (p.Phe191Val) rs775425473
NM_139076.3(ABRAXAS1):c.576C>T (p.Ser192=) rs746347317
NM_139076.3(ABRAXAS1):c.582A>G (p.Ala194=) rs772212241
NM_139076.3(ABRAXAS1):c.584T>C (p.Val195Ala) rs2529435179
NM_139076.3(ABRAXAS1):c.586C>A (p.Gln196Lys) rs1453713620
NM_139076.3(ABRAXAS1):c.591dup (p.His198fs)
NM_139076.3(ABRAXAS1):c.595A>C (p.Ser199Arg) rs1722484545
NM_139076.3(ABRAXAS1):c.596+3A>C rs1722484259
NM_139076.3(ABRAXAS1):c.597-11A>G
NM_139076.3(ABRAXAS1):c.597-20G>A rs2529431545
NM_139076.3(ABRAXAS1):c.597-20G>T rs2529431545
NM_139076.3(ABRAXAS1):c.601A>C (p.Lys201Gln) rs901660662
NM_139076.3(ABRAXAS1):c.601A>G (p.Lys201Glu) rs901660662
NM_139076.3(ABRAXAS1):c.612AGA[1] (p.Glu205del) rs759905964
NM_139076.3(ABRAXAS1):c.620G>A (p.Gly207Glu) rs2529431437
NM_139076.3(ABRAXAS1):c.630G>A (p.Lys210=) rs761032251
NM_139076.3(ABRAXAS1):c.656A>G (p.Tyr219Cys) rs768405316
NM_139076.3(ABRAXAS1):c.657T>C (p.Tyr219=) rs2529431323
NM_139076.3(ABRAXAS1):c.678A>G (p.Leu226=) rs2529431258
NM_139076.3(ABRAXAS1):c.681+5G>A rs1722414601
NM_139076.3(ABRAXAS1):c.682-12T>C rs2529422176
NM_139076.3(ABRAXAS1):c.682-13C>T rs2110034103
NM_139076.3(ABRAXAS1):c.682-13_682-9del rs724159832
NM_139076.3(ABRAXAS1):c.682-17A>G rs2110034107
NM_139076.3(ABRAXAS1):c.685A>T (p.Ile229Leu) rs2110034090
NM_139076.3(ABRAXAS1):c.695_696insTAAAAAAAA (p.Lys231_Lys232insAsnLysLys) rs2110034084
NM_139076.3(ABRAXAS1):c.696del (p.Val233fs) rs1390153317
NM_139076.3(ABRAXAS1):c.698T>C (p.Val233Ala) rs2110034075
NM_139076.3(ABRAXAS1):c.709G>T (p.Glu237Ter) rs758079543
NM_139076.3(ABRAXAS1):c.717A>G (p.Ala239=) rs1060504867
NM_139076.3(ABRAXAS1):c.722A>C (p.Asp241Ala) rs2110034041
NM_139076.3(ABRAXAS1):c.732A>G (p.Val244=) rs753968871
NM_139076.3(ABRAXAS1):c.754C>T (p.Arg252Ter) rs1300270870
NM_139076.3(ABRAXAS1):c.773G>C (p.Arg258Thr) rs1060503254
NM_139076.3(ABRAXAS1):c.778G>A (p.Ala260Thr) rs200727513
NM_139076.3(ABRAXAS1):c.792A>C (p.Ala264=) rs2529421816
NM_139076.3(ABRAXAS1):c.796+12_796+14del rs1722226324
NM_139076.3(ABRAXAS1):c.796+20_796+21del rs746513523
NM_139076.3(ABRAXAS1):c.797-11A>G rs776370144
NM_139076.3(ABRAXAS1):c.797-15T>A rs201424228
NM_139076.3(ABRAXAS1):c.797-15T>C rs201424228
NM_139076.3(ABRAXAS1):c.797-1G>A rs1722192551
NM_139076.3(ABRAXAS1):c.797-3T>C rs971707943
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.826_828del (p.Glu276del) rs748475674
NM_139076.3(ABRAXAS1):c.828G>C (p.Glu276Asp) rs2110033350
NM_139076.3(ABRAXAS1):c.833T>G (p.Ile278Ser) rs587780267
NM_139076.3(ABRAXAS1):c.837T>C (p.Phe279=) rs1578122554
NM_139076.3(ABRAXAS1):c.846G>T (p.Gln282His) rs2529419339
NM_139076.3(ABRAXAS1):c.864dup (p.Pro289fs) rs35378950
NM_139076.3(ABRAXAS1):c.871T>A (p.Ser291Thr) rs2110033286
NM_139076.3(ABRAXAS1):c.872C>G (p.Ser291Cys) rs2110033282
NM_139076.3(ABRAXAS1):c.875A>C (p.Glu292Ala) rs1578122514
NM_139076.3(ABRAXAS1):c.879dup (p.Leu294fs) rs769078691
NM_139076.3(ABRAXAS1):c.88-12_88-11del rs2110049367
NM_139076.3(ABRAXAS1):c.88-13T>C
NM_139076.3(ABRAXAS1):c.88-20T>G rs754075786
NM_139076.3(ABRAXAS1):c.894T>C (p.Val298=) rs1560570842
NM_139076.3(ABRAXAS1):c.895_908dup (p.Asn303delinsLysCysLeuTer) rs1578122471
NM_139076.3(ABRAXAS1):c.896T>C (p.Met299Thr) rs781307588
NM_139076.3(ABRAXAS1):c.907A>G (p.Asn303Asp) rs2529419156
NM_139076.3(ABRAXAS1):c.908dup (p.Asn303fs) rs1578122465
NM_139076.3(ABRAXAS1):c.913C>A (p.His305Asn) rs1722181853
NM_139076.3(ABRAXAS1):c.914A>G (p.His305Arg) rs1438058565
NM_139076.3(ABRAXAS1):c.915T>A (p.His305Gln) rs587780269
NM_139076.3(ABRAXAS1):c.915T>C (p.His305=) rs587780269
NM_139076.3(ABRAXAS1):c.92G>T (p.Gly31Val) rs756325320
NM_139076.3(ABRAXAS1):c.932_937del (p.Cys311_Asn312del) rs1722179235
NM_139076.3(ABRAXAS1):c.936C>T (p.Asn312=) rs1578122398
NM_139076.3(ABRAXAS1):c.942C>T (p.Asn314=) rs2110033173
NM_139076.3(ABRAXAS1):c.943C>T (p.His315Tyr) rs2529419014
NM_139076.3(ABRAXAS1):c.945C>G (p.His315Gln) rs1578122388
NM_139076.3(ABRAXAS1):c.947A>G (p.His316Arg) rs2110033166
NM_139076.3(ABRAXAS1):c.966T>C (p.Asn322=) rs2110033127
NM_139076.3(ABRAXAS1):c.96T>G (p.Phe32Leu) rs1723022809
NM_139076.3(ABRAXAS1):c.972C>T (p.Thr324=) rs2529418672
NM_139076.3(ABRAXAS1):c.97CTT[1] (p.Leu34del) rs776878945
NM_139076.3(ABRAXAS1):c.988A>T (p.Thr330Ser) rs2529418612

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