ClinVar Miner

List of variants in gene ABRAXAS1 studied for Hereditary cancer-predisposing syndrome

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Gene type:
ClinVar version:
Total variants: 368
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HGVS dbSNP gnomAD frequency
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)

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