ClinVar Miner

List of variants in gene ASL studied for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 795
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HGVS dbSNP gnomAD frequency
NM_000048.4(ASL):c.656-102T>C rs313828 0.76440
NM_000048.4(ASL):c.655+124A>G rs313829 0.71689
NM_000048.4(ASL):c.978+63C>T rs2460432 0.65407
NM_000048.4(ASL):c.*265C>T rs465359 0.09815
NM_000048.4(ASL):c.*323G>A rs160643 0.09813
NM_000048.4(ASL):c.*287C>T rs160644 0.09796
NM_000048.4(ASL):c.*268G>C rs462853 0.09790
NM_000048.4(ASL):c.602+13C>T rs12536292 0.04315
NM_000048.4(ASL):c.718+14A>T rs117035302 0.01554
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185 0.01380
NM_000048.4(ASL):c.576G>A (p.Lys192=) rs115468878 0.00717
NM_000048.4(ASL):c.1062+16C>G rs192554187 0.00714
NM_000048.4(ASL):c.*218C>T rs115226772 0.00375
NM_000048.4(ASL):c.556C>A (p.Arg186=) rs111407265 0.00347
NM_000048.4(ASL):c.183C>T (p.Asp61=) rs73374672 0.00282
NM_000048.4(ASL):c.162C>T (p.Leu54=) rs140221164 0.00238
NM_000048.4(ASL):c.927G>T (p.Gly309=) rs151294789 0.00185
NM_000048.4(ASL):c.309G>A (p.Thr103=) rs142448820 0.00129
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_000048.4(ASL):c.*395C>T rs140184651 0.00090
NM_000048.4(ASL):c.1029C>T (p.Leu343=) rs140532520 0.00083
NM_000048.4(ASL):c.242T>C (p.Leu81Pro) rs141046612 0.00061
NM_000048.4(ASL):c.399G>A (p.Ser133=) rs141584041 0.00057
NM_000048.4(ASL):c.291+4C>T rs368188924 0.00046
NM_000048.4(ASL):c.392C>T (p.Thr131Met) rs143793815 0.00042
NM_000048.4(ASL):c.1200C>G (p.Thr400=) rs370291313 0.00037
NM_000048.4(ASL):c.532G>A (p.Val178Met) rs28941473 0.00034
NM_000048.4(ASL):c.299T>C (p.Ile100Thr) rs202142867 0.00022
NM_000048.4(ASL):c.1169C>T (p.Ala390Val) rs201047656 0.00021
NM_000048.4(ASL):c.655+8G>A rs200203985 0.00019
NM_000048.4(ASL):c.1035G>A (p.Val345=) rs182203503 0.00018
NM_000048.4(ASL):c.1063-18G>A rs375596037 0.00016
NM_000048.4(ASL):c.1357C>T (p.Arg453Cys) rs144591360 0.00015
NM_000048.4(ASL):c.857A>G (p.Gln286Arg) rs28941472 0.00015
NM_000048.4(ASL):c.1098C>T (p.Pro366=) rs138511394 0.00014
NM_000048.4(ASL):c.135C>T (p.Tyr45=) rs200619443 0.00014
NM_000048.4(ASL):c.354C>T (p.Val118=) rs116121482 0.00014
NM_000048.4(ASL):c.1056G>A (p.Thr352=) rs745476328 0.00013
NM_000048.4(ASL):c.1143+13C>A rs202069416 0.00013
NM_000048.4(ASL):c.1383A>C (p.Ala461=) rs139531479 0.00013
NM_000048.4(ASL):c.719-12C>A rs578174223 0.00013
NM_000048.4(ASL):c.*286T>A rs555884175 0.00011
NM_000048.4(ASL):c.-31G>A rs766867890 0.00011
NM_000048.4(ASL):c.1047C>G (p.Val349=) rs187877947 0.00011
NM_000048.4(ASL):c.1062+14C>A rs776422245 0.00011
NM_000048.4(ASL):c.1278C>T (p.Cys426=) rs140770112 0.00011
NM_000048.4(ASL):c.1302G>A (p.Val434=) rs141705502 0.00011
NM_000048.4(ASL):c.1044C>T (p.Gly348=) rs147116519 0.00009
NM_000048.4(ASL):c.1270G>A (p.Val424Met) rs368264870 0.00009
NM_000048.4(ASL):c.524+12G>T rs200700775 0.00009
NM_000048.4(ASL):c.1342G>A (p.Val448Ile) rs139410488 0.00008
NM_000048.4(ASL):c.337C>T (p.Arg113Trp) rs767543051 0.00008
NM_000048.4(ASL):c.446+1G>A rs142637046 0.00008
NM_000048.4(ASL):c.571C>T (p.Arg191Trp) rs143508372 0.00008
NM_000048.4(ASL):c.603-20A>G rs376008291 0.00008
NM_000048.4(ASL):c.656-14T>A rs756638742 0.00008
NM_000048.4(ASL):c.72C>T (p.Phe24=) rs760059034 0.00008
NM_000048.4(ASL):c.1134C>T (p.Val378=) rs143883756 0.00007
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286 0.00007
NM_000048.4(ASL):c.174C>T (p.Ala58=) rs376104424 0.00007
NM_000048.4(ASL):c.303T>C (p.Gly101=) rs746665818 0.00007
NM_000048.4(ASL):c.330A>G (p.Gly110=) rs147464765 0.00007
NM_000048.4(ASL):c.1045G>A (p.Val349Ile) rs372774556 0.00006
NM_000048.4(ASL):c.1293G>A (p.Gly431=) rs977248418 0.00006
NM_000048.4(ASL):c.1366C>T (p.Arg456Trp) rs759396688 0.00006
NM_000048.4(ASL):c.207+10G>A rs754479563 0.00006
NM_000048.4(ASL):c.207+9C>T rs766219256 0.00006
NM_000048.4(ASL):c.401G>A (p.Gly134Asp) rs201352504 0.00006
NM_000048.4(ASL):c.656-4C>A rs571362354 0.00006
NM_000048.4(ASL):c.688A>G (p.Met230Val) rs143957662 0.00006
NM_000048.4(ASL):c.849G>C (p.Leu283=) rs771334759 0.00006
NM_000048.4(ASL):c.919-10C>T rs199585001 0.00006
NM_000048.4(ASL):c.-16C>T rs372229504 0.00005
NM_000048.4(ASL):c.1263G>A (p.Ser421=) rs542163407 0.00005
NM_000048.4(ASL):c.393G>A (p.Thr131=) rs147273133 0.00005
NM_000048.4(ASL):c.447-20C>T rs370515460 0.00005
NM_000048.4(ASL):c.544C>T (p.Arg182Ter) rs398123126 0.00005
NM_000048.4(ASL):c.609C>A (p.Ala203=) rs139105263 0.00005
NM_000048.4(ASL):c.75C>T (p.Asn25=) rs370260834 0.00005
NM_000048.4(ASL):c.90C>T (p.Tyr30=) rs751062108 0.00005
NM_000048.4(ASL):c.933G>A (p.Leu311=) rs550097103 0.00005
NM_000048.4(ASL):c.*11A>G rs199571661 0.00004
NM_000048.4(ASL):c.-34A>G rs913916151 0.00004
NM_000048.4(ASL):c.1063-8G>A rs548397162 0.00004
NM_000048.4(ASL):c.13-4C>T rs201082875 0.00004
NM_000048.4(ASL):c.1358G>A (p.Arg453His) rs762805462 0.00004
NM_000048.4(ASL):c.159G>A (p.Gly53=) rs745883849 0.00004
NM_000048.4(ASL):c.219G>A (p.Glu73=) rs775520810 0.00004
NM_000048.4(ASL):c.348+8A>T rs757626168 0.00004
NM_000048.4(ASL):c.369G>A (p.Leu123=) rs968632275 0.00004
NM_000048.4(ASL):c.528C>T (p.His176=) rs150557376 0.00004
NM_000048.4(ASL):c.578G>A (p.Arg193Gln) rs373697663 0.00004
NM_000048.4(ASL):c.649C>T (p.Arg217Ter) rs369879957 0.00004
NM_000048.4(ASL):c.656-6C>G rs374259737 0.00004
NM_000048.4(ASL):c.718+3G>A rs368266194 0.00004
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys) rs28940287 0.00003
NM_000048.4(ASL):c.1242G>A (p.Gln414=) rs144716217 0.00003
NM_000048.4(ASL):c.1345G>A (p.Asp449Asn) rs781031440 0.00003
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln) rs767271619 0.00003
NM_000048.4(ASL):c.1389G>A (p.Gln463=) rs149698725 0.00003
NM_000048.4(ASL):c.284G>A (p.Arg95His) rs150244667 0.00003
NM_000048.4(ASL):c.291+7C>G rs371162956 0.00003
NM_000048.4(ASL):c.577C>T (p.Arg193Trp) rs1428029508 0.00003
NM_000048.4(ASL):c.748A>G (p.Met250Val) rs374908945 0.00003
NM_000048.4(ASL):c.924C>T (p.Ala308=) rs747831550 0.00003
NM_000048.4(ASL):c.938C>A (p.Thr313Asn) rs1410031530 0.00003
NM_000048.4(ASL):c.1023C>T (p.Ala341=) rs530889593 0.00002
NM_000048.4(ASL):c.1127A>G (p.Tyr376Cys) rs761034915 0.00002
NM_000048.4(ASL):c.1165G>A (p.Glu389Lys) rs1465800300 0.00002
NM_000048.4(ASL):c.1170C>A (p.Ala390=) rs747116101 0.00002
NM_000048.4(ASL):c.1262C>T (p.Ser421Leu) rs148669165 0.00002
NM_000048.4(ASL):c.1267G>A (p.Asp423Asn) rs778321544 0.00002
NM_000048.4(ASL):c.1323C>T (p.Gly441=) rs749685338 0.00002
NM_000048.4(ASL):c.1371G>A (p.Ala457=) rs375514826 0.00002
NM_000048.4(ASL):c.208-4A>G rs1293737779 0.00002
NM_000048.4(ASL):c.243G>C (p.Leu81=) rs774204716 0.00002
NM_000048.4(ASL):c.294G>A (p.Glu98=) rs778312880 0.00002
NM_000048.4(ASL):c.326C>T (p.Thr109Met) rs146123574 0.00002
NM_000048.4(ASL):c.338G>A (p.Arg113Gln) rs752783461 0.00002
NM_000048.4(ASL):c.436C>T (p.Arg146Trp) rs199938613 0.00002
NM_000048.4(ASL):c.447-1G>A rs778254333 0.00002
NM_000048.4(ASL):c.498C>T (p.Pro166=) rs1293664442 0.00002
NM_000048.4(ASL):c.524+2T>G rs869312976 0.00002
NM_000048.4(ASL):c.557G>A (p.Arg186Gln) rs752397242 0.00002
NM_000048.4(ASL):c.62T>C (p.Met21Thr) rs774392615 0.00002
NM_000048.4(ASL):c.637C>T (p.Arg213Ter) rs761651320 0.00002
NM_000048.4(ASL):c.638G>A (p.Arg213Gln) rs1449589636 0.00002
NM_000048.4(ASL):c.771C>T (p.Ala257=) rs375586912 0.00002
NM_000048.4(ASL):c.77C>T (p.Ala26Val) rs761046404 0.00002
NM_000048.4(ASL):c.861G>A (p.Lys287=) rs370973627 0.00002
NM_000048.4(ASL):c.870C>G (p.Pro290=) rs764804216 0.00002
NM_000048.4(ASL):c.918+13G>C rs372611875 0.00002
NM_000048.4(ASL):c.918+5G>A rs781331391 0.00002
NM_000048.4(ASL):c.919-4G>A rs756230523 0.00002
NM_000048.4(ASL):c.*93C>T rs1362861443 0.00001
NM_000048.4(ASL):c.1014T>C (p.Thr338=) rs1396048492 0.00001
NM_000048.4(ASL):c.1020T>G (p.Ser340Arg) rs771476376 0.00001
NM_000048.4(ASL):c.1026G>C (p.Val342=) rs768461888 0.00001
NM_000048.4(ASL):c.1059G>T (p.Leu353=) rs771658402 0.00001
NM_000048.4(ASL):c.1101C>T (p.Asp367=) rs199891488 0.00001
NM_000048.4(ASL):c.1113T>G (p.Thr371=) rs1466517161 0.00001
NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys) rs886062406 0.00001
NM_000048.4(ASL):c.1128C>A (p.Tyr376Ter) rs764546937 0.00001
NM_000048.4(ASL):c.1136G>A (p.Arg379His) rs200853731 0.00001
NM_000048.4(ASL):c.1143+8T>C rs1015804553 0.00001
NM_000048.4(ASL):c.1143+9G>A rs368891277 0.00001
NM_000048.4(ASL):c.1154G>A (p.Arg385His) rs746120802 0.00001
NM_000048.4(ASL):c.1173C>T (p.Ser391=) rs1436177232 0.00001
NM_000048.4(ASL):c.1193C>A (p.Ala398Asp) rs770167670 0.00001
NM_000048.4(ASL):c.1204G>T (p.Gly402Trp) rs727503812 0.00001
NM_000048.4(ASL):c.1210G>A (p.Ala404Thr) rs757216794 0.00001
NM_000048.4(ASL):c.1230G>C (p.Leu410=) rs1397223617 0.00001
NM_000048.4(ASL):c.1239G>T (p.Leu413=) rs780205992 0.00001
NM_000048.4(ASL):c.1250+13C>T rs879422673 0.00001
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs) rs757109353 0.00001
NM_000048.4(ASL):c.1260C>T (p.Phe420=) rs1208131360 0.00001
NM_000048.4(ASL):c.1269C>T (p.Asp423=) rs1420011973 0.00001
NM_000048.4(ASL):c.1275C>T (p.Ile425=) rs771218861 0.00001
NM_000048.4(ASL):c.1285G>T (p.Asp429Tyr) rs1415535789 0.00001
NM_000048.4(ASL):c.1290C>T (p.Tyr430=) rs780846396 0.00001
NM_000048.4(ASL):c.1299T>C (p.Ser433=) rs764807922 0.00001
NM_000048.4(ASL):c.1308G>A (p.Gln436=) rs751302378 0.00001
NM_000048.4(ASL):c.1311T>C (p.Tyr437=) rs932494060 0.00001
NM_000048.4(ASL):c.1318C>T (p.Leu440=) rs146274715 0.00001
NM_000048.4(ASL):c.1319T>C (p.Leu440Pro) rs752915686 0.00001
NM_000048.4(ASL):c.1332G>A (p.Ala444=) rs1020745415 0.00001
NM_000048.4(ASL):c.133T>A (p.Tyr45Asn) rs771012029 0.00001
NM_000048.4(ASL):c.1341C>T (p.Ser447=) rs558327619 0.00001
NM_000048.4(ASL):c.1344C>T (p.Val448=) rs144011206 0.00001
NM_000048.4(ASL):c.1388A>G (p.Gln463Arg) rs200363489 0.00001
NM_000048.4(ASL):c.141G>A (p.Arg47=) rs569936169 0.00001
NM_000048.4(ASL):c.155C>T (p.Ala52Val) rs886062405 0.00001
NM_000048.4(ASL):c.195T>C (p.His65=) rs1431884873 0.00001
NM_000048.4(ASL):c.209T>C (p.Val70Ala) rs1027739421 0.00001
NM_000048.4(ASL):c.246C>T (p.Asn82=) rs1281983139 0.00001
NM_000048.4(ASL):c.260A>G (p.Asp87Gly) rs752100894 0.00001
NM_000048.4(ASL):c.279G>A (p.Glu93=) rs1228047537 0.00001
NM_000048.4(ASL):c.280C>T (p.Arg94Cys) rs374304304 0.00001
NM_000048.4(ASL):c.281G>A (p.Arg94His) rs777437569 0.00001
NM_000048.4(ASL):c.283C>T (p.Arg95Cys) rs28940585 0.00001
NM_000048.4(ASL):c.292-14C>T rs376560894 0.00001
NM_000048.4(ASL):c.292G>T (p.Glu98Ter) rs770375565 0.00001
NM_000048.4(ASL):c.306A>G (p.Ala102=) rs192537483 0.00001
NM_000048.4(ASL):c.308C>T (p.Thr103Met) rs768087423 0.00001
NM_000048.4(ASL):c.312A>G (p.Ala104=) rs1398461862 0.00001
NM_000048.4(ASL):c.327G>A (p.Thr109=) rs766185326 0.00001
NM_000048.4(ASL):c.331C>T (p.Arg111Trp) rs138310841 0.00001
NM_000048.4(ASL):c.332G>A (p.Arg111Gln) rs561367199 0.00001
NM_000048.4(ASL):c.349-1G>A rs1395478201 0.00001
NM_000048.4(ASL):c.34C>T (p.Arg12Trp) rs564735357 0.00001
NM_000048.4(ASL):c.376C>T (p.Arg126Trp) rs201962738 0.00001
NM_000048.4(ASL):c.377G>A (p.Arg126Gln) rs777235530 0.00001
NM_000048.4(ASL):c.446+2T>C rs1268519003 0.00001
NM_000048.4(ASL):c.446+7C>A rs1224014280 0.00001
NM_000048.4(ASL):c.446C>T (p.Ala149Val) rs777288665 0.00001
NM_000048.4(ASL):c.462C>T (p.Leu154=) rs1303394917 0.00001
NM_000048.4(ASL):c.467C>T (p.Pro156Leu) rs769017508 0.00001
NM_000048.4(ASL):c.468G>A (p.Pro156=) rs748316235 0.00001
NM_000048.4(ASL):c.474C>T (p.Tyr158=) rs1361999742 0.00001
NM_000048.4(ASL):c.507G>C (p.Trp169Cys) rs759952363 0.00001
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073 0.00001
NM_000048.4(ASL):c.552T>C (p.Ser184=) rs1786675333 0.00001
NM_000048.4(ASL):c.566A>G (p.Glu189Gly) rs756363516 0.00001
NM_000048.4(ASL):c.582C>T (p.Ile194=) rs746394101 0.00001
NM_000048.4(ASL):c.584A>G (p.Asn195Ser) rs1409298819 0.00001
NM_000048.4(ASL):c.585T>C (p.Asn195=) rs772416006 0.00001
NM_000048.4(ASL):c.588C>T (p.Val196=) rs114242623 0.00001
NM_000048.4(ASL):c.602+1G>A rs398123127 0.00001
NM_000048.4(ASL):c.603-5T>C rs367999318 0.00001
NM_000048.4(ASL):c.613G>A (p.Ala205Thr) rs771531271 0.00001
NM_000048.4(ASL):c.615A>G (p.Ala205=) rs775013928 0.00001
NM_000048.4(ASL):c.625C>T (p.Leu209=) rs1484116994 0.00001
NM_000048.4(ASL):c.633G>T (p.Val211=) rs1326733063 0.00001
NM_000048.4(ASL):c.642G>A (p.Glu214=) rs1427327330 0.00001
NM_000048.4(ASL):c.655+7C>T rs755546894 0.00001
NM_000048.4(ASL):c.655G>C (p.Glu219Gln) rs944576125 0.00001
NM_000048.4(ASL):c.660C>T (p.Leu220=) rs1562741433 0.00001
NM_000048.4(ASL):c.693T>C (p.Asp231=) rs1312699116 0.00001
NM_000048.4(ASL):c.707G>A (p.Arg236Gln) rs764602422 0.00001
NM_000048.4(ASL):c.708G>C (p.Arg236=) rs1206710088 0.00001
NM_000048.4(ASL):c.713T>A (p.Phe238Tyr) rs754283030 0.00001
NM_000048.4(ASL):c.719-1G>A rs369828060 0.00001
NM_000048.4(ASL):c.720C>T (p.Ala240=) rs764072757 0.00001
NM_000048.4(ASL):c.722A>C (p.Glu241Ala) rs924321091 0.00001
NM_000048.4(ASL):c.740C>T (p.Ser247Leu) rs1405344068 0.00001
NM_000048.4(ASL):c.76G>A (p.Ala26Thr) rs775839623 0.00001
NM_000048.4(ASL):c.772G>A (p.Glu258Lys) rs909358635 0.00001
NM_000048.4(ASL):c.789C>T (p.Tyr263=) rs1388633554 0.00001
NM_000048.4(ASL):c.795C>T (p.Thr265=) rs757101256 0.00001
NM_000048.4(ASL):c.833+10G>A rs544134586 0.00001
NM_000048.4(ASL):c.833+16C>T rs949611035 0.00001
NM_000048.4(ASL):c.833+4A>G rs375854730 0.00001
NM_000048.4(ASL):c.834-14A>G rs1786759930 0.00001
NM_000048.4(ASL):c.839G>A (p.Gly280Glu) rs1085307952 0.00001
NM_000048.4(ASL):c.846C>G (p.Ser282Arg) rs398123128 0.00001
NM_000048.4(ASL):c.890G>A (p.Arg297Gln) rs750431938 0.00001
NM_000048.4(ASL):c.91G>A (p.Asp31Asn) rs754995756 0.00001
NM_000048.4(ASL):c.95G>A (p.Arg32Gln) rs149108910 0.00001
NM_000048.4(ASL):c.976C>A (p.Gln326Lys) rs398123129 0.00001
NM_000048.4(ASL):c.978G>C (p.Gln326His) rs764356037 0.00001
NM_000048.4(ASL):c.979-8C>T rs781673231 0.00001
NM_000048.4(ASL):c.981G>A (p.Glu327=) rs770579327 0.00001
NC_000007.13:g.(?_65541069)_(65541100_?)del
NC_000007.13:g.(?_65541069)_(65548181_?)del
NC_000007.13:g.(?_65541069)_(65557899_?)dup
NC_000007.13:g.(?_65546770)_(65557899_?)dup
NC_000007.13:g.(?_65546932)_(65549932_?)del
NC_000007.13:g.(?_65547857)_(65548171_?)del
NC_000007.13:g.(?_65551562)_(65557909_?)dup
NC_000007.13:g.(?_65556973)_(65557899_?)del
NC_000007.13:g.(?_65556973)_(65557919_?)dup
NC_000007.13:g.(?_65557534)_(65557909_?)del
NC_000007.14:g.(?_66076062)_(66092932_?)dup
NC_000007.14:g.(?_66076072)_(66092922_?)del
NC_000007.14:g.(?_66081783)_(66083194_?)del
NC_000007.14:g.(?_66086565)_(66092932_?)dup
NC_000007.14:g.66089612del rs1584032751
NM_000048.3(ASL):c.292delG rs869312987
NM_000048.4(ASL):c.1005G>C (p.Val335=) rs2115746700
NM_000048.4(ASL):c.1008A>G (p.Ser336=) rs2115746741
NM_000048.4(ASL):c.1040C>T (p.Thr347Ile)
NM_000048.4(ASL):c.1045_1057del (p.Val349fs) rs796051933
NM_000048.4(ASL):c.1045_1062+7del rs1329070853
NM_000048.4(ASL):c.1049T>C (p.Ile350Thr)
NM_000048.4(ASL):c.104G>A (p.Trp35Ter)
NM_000048.4(ASL):c.1050C>T (p.Ile350=)
NM_000048.4(ASL):c.1056G>C (p.Thr352=) rs745476328
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter) rs367543005
NM_000048.4(ASL):c.1062+12C>T
NM_000048.4(ASL):c.1062+13C>A
NM_000048.4(ASL):c.1062+13C>T
NM_000048.4(ASL):c.1062+16C>A
NM_000048.4(ASL):c.1062+17C>G
NM_000048.4(ASL):c.1062+17del rs750441507
NM_000048.4(ASL):c.1062+17dup
NM_000048.4(ASL):c.1062+1G>T rs1554327825
NM_000048.4(ASL):c.1062+5G>C
NM_000048.4(ASL):c.1062+7C>G
NM_000048.4(ASL):c.1062+7C>T rs2115747359
NM_000048.4(ASL):c.1063-10G>A
NM_000048.4(ASL):c.1063-12C>T
NM_000048.4(ASL):c.1063-14A>T
NM_000048.4(ASL):c.1063-14_1063-5del
NM_000048.4(ASL):c.1063-15C>T
NM_000048.4(ASL):c.1063-19C>T
NM_000048.4(ASL):c.1063-3del
NM_000048.4(ASL):c.1063-57G>C rs1167406
NM_000048.4(ASL):c.1065T>A (p.Ile355=)
NM_000048.4(ASL):c.1068C>T (p.His356=)
NM_000048.4(ASL):c.106G>T (p.Glu36Ter)
NM_000048.4(ASL):c.1077C>G (p.Asn359Lys) rs372785881
NM_000048.4(ASL):c.1077C>T (p.Asn359=) rs372785881
NM_000048.4(ASL):c.1078A>G (p.Met360Val) rs2115760128
NM_000048.4(ASL):c.1079T>C (p.Met360Thr) rs875989948
NM_000048.4(ASL):c.1080G>C (p.Met360Ile) rs1786857910
NM_000048.4(ASL):c.1095C>T (p.Ser365=) rs749559501
NM_000048.4(ASL):c.1098dup (p.Asp367fs)
NM_000048.4(ASL):c.1102A>G (p.Met368Val) rs1554328202
NM_000048.4(ASL):c.1105del (p.Leu369fs) rs1554328206
NM_000048.4(ASL):c.111_133del (p.Asp38fs) rs1554326267
NM_000048.4(ASL):c.1122dup (p.Tyr375fs) rs869312993
NM_000048.4(ASL):c.1135C>G (p.Arg379Gly)
NM_000048.4(ASL):c.1136G>T (p.Arg379Leu) rs200853731
NM_000048.4(ASL):c.1143+16C>A
NM_000048.4(ASL):c.1143+18del
NM_000048.4(ASL):c.1143+1G>A
NM_000048.4(ASL):c.1143+1G>C
NM_000048.4(ASL):c.1143+1G>T
NM_000048.4(ASL):c.1143+1del
NM_000048.4(ASL):c.1143+20G>T
NM_000048.4(ASL):c.1143+2T>G rs2115760718
NM_000048.4(ASL):c.1143+6T>A rs2115760756
NM_000048.4(ASL):c.1143+8T>G
NM_000048.4(ASL):c.1144-14T>A
NM_000048.4(ASL):c.1144-15C>T
NM_000048.4(ASL):c.1144-19C>T
NM_000048.4(ASL):c.1144-5C>T rs1429849711
NM_000048.4(ASL):c.114T>C (p.Asp38=)
NM_000048.4(ASL):c.1154G>T (p.Arg385Leu)
NM_000048.4(ASL):c.115G>T (p.Val39Phe)
NM_000048.4(ASL):c.1164C>G (p.His388Gln) rs75300185
NM_000048.4(ASL):c.1167G>A (p.Glu389=)
NM_000048.4(ASL):c.1170C>G (p.Ala390=)
NM_000048.4(ASL):c.1170C>T (p.Ala390=) rs747116101
NM_000048.4(ASL):c.1172_1173delinsAA (p.Ser391Ter) rs1786880122
NM_000048.4(ASL):c.1174G>A (p.Gly392Arg)
NM_000048.4(ASL):c.1176G>C (p.Gly392=) rs2115764470
NM_000048.4(ASL):c.117del (p.Gln40fs)
NM_000048.4(ASL):c.1185G>C (p.Val395=)
NM_000048.4(ASL):c.118_119del (p.Gln40fs)
NM_000048.4(ASL):c.1194C>A (p.Ala398=)
NM_000048.4(ASL):c.1194C>T (p.Ala398=) rs149370610
NM_000048.4(ASL):c.1197G>A (p.Glu399=) rs2115764700
NM_000048.4(ASL):c.1204G>A (p.Gly402Arg) rs727503812
NM_000048.4(ASL):c.1206G>A (p.Gly402=)
NM_000048.4(ASL):c.1207del (p.Val403fs) rs1554328363
NM_000048.4(ASL):c.1209C>T (p.Val403=) rs1179470187
NM_000048.4(ASL):c.120A>G (p.Gln40=) rs1786514929
NM_000048.4(ASL):c.1215C>T (p.Leu405=)
NM_000048.4(ASL):c.1218C>G (p.Asn406Lys) rs2115764896
NM_000048.4(ASL):c.1219C>T (p.Gln407Ter) rs2115764913
NM_000048.4(ASL):c.1221G>A (p.Gln407=)
NM_000048.4(ASL):c.1222C>T (p.Leu408=) rs2115764958
NM_000048.4(ASL):c.1224G>A (p.Leu408=) rs2115764992
NM_000048.4(ASL):c.1227A>G (p.Ser409=)
NM_000048.4(ASL):c.1228C>T (p.Leu410=)
NM_000048.4(ASL):c.122G>A (p.Gly41Asp) rs1562737230
NM_000048.4(ASL):c.1230G>A (p.Leu410=)
NM_000048.4(ASL):c.1249_1250+12del rs1554328381
NM_000048.4(ASL):c.1250+11del
NM_000048.4(ASL):c.1250+18C>T
NM_000048.4(ASL):c.1250+1G>A
NM_000048.4(ASL):c.1250+8C>T
NM_000048.4(ASL):c.1251-10C>G rs2115766036
NM_000048.4(ASL):c.1251-10C>T
NM_000048.4(ASL):c.1251-18C>A
NM_000048.4(ASL):c.1251-4C>G
NM_000048.4(ASL):c.1251-8C>G
NM_000048.4(ASL):c.1251-8C>T
NM_000048.4(ASL):c.1254C>T (p.Pro418=) rs2115766177
NM_000048.4(ASL):c.1255C>T (p.Leu419=)
NM_000048.4(ASL):c.1257G>A (p.Leu419=)
NM_000048.4(ASL):c.1266C>A (p.Gly422=) rs538342522
NM_000048.4(ASL):c.1267G>C (p.Asp423His)
NM_000048.4(ASL):c.1279G>A (p.Val427Met)
NM_000048.4(ASL):c.1290C>A (p.Tyr430Ter) rs780846396
NM_000048.4(ASL):c.1296C>T (p.His432=)
NM_000048.4(ASL):c.1297A>C (p.Ser433Arg) rs1554328459
NM_000048.4(ASL):c.13-10T>C rs2115689838
NM_000048.4(ASL):c.13-12T>A
NM_000048.4(ASL):c.13-14G>T
NM_000048.4(ASL):c.13-19T>C
NM_000048.4(ASL):c.13-1G>C rs1554326239
NM_000048.4(ASL):c.13-2A>G
NM_000048.4(ASL):c.13-7T>C
NM_000048.4(ASL):c.13-8C>T rs2115689858
NM_000048.4(ASL):c.1300G>T (p.Val434Leu) rs773071023
NM_000048.4(ASL):c.1311T>G (p.Tyr437Ter) rs932494060
NM_000048.4(ASL):c.1317C>T (p.Ala439=) rs755170923
NM_000048.4(ASL):c.131C>G (p.Ala44Gly) rs2115691157
NM_000048.4(ASL):c.1325del (p.Gly442fs) rs1554328479
NM_000048.4(ASL):c.1331C>T (p.Ala444Val)
NM_000048.4(ASL):c.1334G>A (p.Arg445His)
NM_000048.4(ASL):c.1340G>A (p.Ser447Asn)
NM_000048.4(ASL):c.1349G>A (p.Trp450Ter) rs1786894242
NM_000048.4(ASL):c.1354A>T (p.Ile452Phe)
NM_000048.4(ASL):c.1358G>T (p.Arg453Leu)
NM_000048.4(ASL):c.1360C>T (p.Gln454Ter) rs869312994
NM_000048.4(ASL):c.1366C>A (p.Arg456=)
NM_000048.4(ASL):c.1368G>A (p.Arg456=)
NM_000048.4(ASL):c.1371G>T (p.Ala457=)
NM_000048.4(ASL):c.1372C>T (p.Leu458=) rs1175698932
NM_000048.4(ASL):c.1374A>G (p.Leu458=)
NM_000048.4(ASL):c.1377G>A (p.Leu459=) rs2115767668
NM_000048.4(ASL):c.1382C>T (p.Ala461Val)
NM_000048.4(ASL):c.1386G>A (p.Gln462=) rs1274669918
NM_000048.4(ASL):c.1395G>A (p.Ter465=) rs1339615185
NM_000048.4(ASL):c.143del (p.Gly48fs)
NM_000048.4(ASL):c.144C>T (p.Gly48=)
NM_000048.4(ASL):c.145C>A (p.Leu49Met)
NM_000048.4(ASL):c.159del (p.Leu54fs) rs1786516110
NM_000048.4(ASL):c.165C>T (p.Leu55=)
NM_000048.4(ASL):c.174C>A (p.Ala58=)
NM_000048.4(ASL):c.175G>A (p.Glu59Lys) rs869312985
NM_000048.4(ASL):c.175G>T (p.Glu59Ter)
NM_000048.4(ASL):c.176A>T (p.Glu59Val)
NM_000048.4(ASL):c.18G>A (p.Gly6=)
NM_000048.4(ASL):c.204C>T (p.Asp68=) rs2115691807
NM_000048.4(ASL):c.206A>G (p.Lys69Arg)
NM_000048.4(ASL):c.207+10G>C
NM_000048.4(ASL):c.207+18A>G
NM_000048.4(ASL):c.207+19G>C
NM_000048.4(ASL):c.207+8C>A
NM_000048.4(ASL):c.207+9C>A
NM_000048.4(ASL):c.207+9C>G
NM_000048.4(ASL):c.207G>A (p.Lys69=) rs886043007
NM_000048.4(ASL):c.208-14G>T
NM_000048.4(ASL):c.208-19T>C
NM_000048.4(ASL):c.208-1G>A
NM_000048.4(ASL):c.208-1G>T
NM_000048.4(ASL):c.208-5T>C
NM_000048.4(ASL):c.221G>A (p.Trp74Ter) rs2115694416
NM_000048.4(ASL):c.225C>A (p.Ala75=)
NM_000048.4(ASL):c.226C>T (p.Gln76Ter)
NM_000048.4(ASL):c.229G>C (p.Gly77Arg)
NM_000048.4(ASL):c.231C>T (p.Gly77=) rs2115694497
NM_000048.4(ASL):c.231_243del (p.Phe79fs)
NM_000048.4(ASL):c.241C>T (p.Leu81=) rs1297216151
NM_000048.4(ASL):c.243_244del (p.Asn82fs)
NM_000048.4(ASL):c.252T>C (p.Asn84=)
NM_000048.4(ASL):c.255T>C (p.Asp85=) rs2115694775
NM_000048.4(ASL):c.256G>T (p.Glu86Ter) rs1786532924
NM_000048.4(ASL):c.257A>C (p.Glu86Ala) rs869312986
NM_000048.4(ASL):c.261C>T (p.Asp87=) rs1215546982
NM_000048.4(ASL):c.267C>T (p.His89=)
NM_000048.4(ASL):c.269C>A (p.Thr90Lys)
NM_000048.4(ASL):c.276T>C (p.Asn92=) rs780895668
NM_000048.4(ASL):c.280C>A (p.Arg94Ser)
NM_000048.4(ASL):c.280_281insTGAAG (p.Arg94fs)
NM_000048.4(ASL):c.282C>T (p.Arg94=) rs2115695015
NM_000048.4(ASL):c.283_285delinsGGCG (p.Arg95fs) rs1554326365
NM_000048.4(ASL):c.285C>T (p.Arg95=) rs757105613
NM_000048.4(ASL):c.286C>T (p.Leu96=) rs1042681659
NM_000048.4(ASL):c.287T>C (p.Leu96Pro) rs1483600747
NM_000048.4(ASL):c.288G>C (p.Leu96=) rs2115695181
NM_000048.4(ASL):c.291+17C>A
NM_000048.4(ASL):c.291+17C>G
NM_000048.4(ASL):c.291+1G>T rs201523601
NM_000048.4(ASL):c.291+2T>C
NM_000048.4(ASL):c.291+3A>G
NM_000048.4(ASL):c.291+7C>A rs371162956
NM_000048.4(ASL):c.291+8C>A rs781492633
NM_000048.4(ASL):c.291G>A (p.Lys97=)
NM_000048.4(ASL):c.292-12C>T
NM_000048.4(ASL):c.292-12del
NM_000048.4(ASL):c.292-18G>A
NM_000048.4(ASL):c.292-7C>T rs748643275
NM_000048.4(ASL):c.299T>A (p.Ile100Asn) rs202142867
NM_000048.4(ASL):c.29G>A (p.Gly10Asp) rs1786510603
NM_000048.4(ASL):c.29del (p.Gly10fs)
NM_000048.4(ASL):c.302G>A (p.Gly101Asp)
NM_000048.4(ASL):c.305dup (p.Thr103fs)
NM_000048.4(ASL):c.306A>C (p.Ala102=) rs192537483
NM_000048.4(ASL):c.309G>C (p.Thr103=)
NM_000048.4(ASL):c.311C>T (p.Ala104Val)
NM_000048.4(ASL):c.324C>T (p.His108=)
NM_000048.4(ASL):c.329dup (p.Arg111fs)
NM_000048.4(ASL):c.333G>T (p.Arg111=) rs2115698584
NM_000048.4(ASL):c.343G>T (p.Asp115Tyr)
NM_000048.4(ASL):c.346C>T (p.Gln116Ter) rs367543006
NM_000048.4(ASL):c.348+10C>T rs779302505
NM_000048.4(ASL):c.348+12C>T
NM_000048.4(ASL):c.348+13dup rs781287410
NM_000048.4(ASL):c.348+18C>G
NM_000048.4(ASL):c.348+19C>T
NM_000048.4(ASL):c.348+1G>A
NM_000048.4(ASL):c.348+1G>T rs2115698756
NM_000048.4(ASL):c.348+20C>G
NM_000048.4(ASL):c.348+22del
NM_000048.4(ASL):c.348+8dup
NM_000048.4(ASL):c.348+9G>T rs2115698826
NM_000048.4(ASL):c.349-13C>A
NM_000048.4(ASL):c.349-18C>T
NM_000048.4(ASL):c.349-5C>T rs1400200414
NM_000048.4(ASL):c.349-6G>T rs2115699934
NM_000048.4(ASL):c.349-9C>G
NM_000048.4(ASL):c.351G>C (p.Val117=)
NM_000048.4(ASL):c.367C>T (p.Leu123=) rs2115700058
NM_000048.4(ASL):c.371G>A (p.Trp124Ter) rs1786558070
NM_000048.4(ASL):c.372G>A (p.Trp124Ter) rs1786558148
NM_000048.4(ASL):c.377G>C (p.Arg126Pro) rs777235530
NM_000048.4(ASL):c.379C>T (p.Gln127Ter) rs1786558577
NM_000048.4(ASL):c.385T>A (p.Cys129Ser)
NM_000048.4(ASL):c.387C>A (p.Cys129Ter)
NM_000048.4(ASL):c.388T>C (p.Ser130Pro)
NM_000048.4(ASL):c.396C>T (p.Leu132=) rs2115700372
NM_000048.4(ASL):c.398C>A (p.Ser133Ter)
NM_000048.4(ASL):c.398C>G (p.Ser133Trp)
NM_000048.4(ASL):c.398C>T (p.Ser133Leu)
NM_000048.4(ASL):c.399G>C (p.Ser133=) rs141584041
NM_000048.4(ASL):c.400G>A (p.Gly134Ser) rs2115700439
NM_000048.4(ASL):c.402C>A (p.Gly134=) rs1308519514
NM_000048.4(ASL):c.403_404insCAAG (p.Leu135fs)
NM_000048.4(ASL):c.404T>G (p.Leu135Arg) rs1786559599
NM_000048.4(ASL):c.405C>T (p.Leu135=) rs372653036
NM_000048.4(ASL):c.406del (p.Leu136fs)
NM_000048.4(ASL):c.408C>T (p.Leu136=)
NM_000048.4(ASL):c.425_426insAGCTCCCAGCT (p.Met143fs)
NM_000048.4(ASL):c.426C>T (p.Thr142=)
NM_000048.4(ASL):c.426del (p.Met143fs) rs2115700686
NM_000048.4(ASL):c.434A>G (p.Asp145Gly)
NM_000048.4(ASL):c.436C>G (p.Arg146Gly)
NM_000048.4(ASL):c.437G>A (p.Arg146Gln) rs796051931
NM_000048.4(ASL):c.437G>C (p.Arg146Pro) rs796051931
NM_000048.4(ASL):c.440C>A (p.Ala147Glu) rs1786561465
NM_000048.4(ASL):c.446+14G>A
NM_000048.4(ASL):c.446+1G>C
NM_000048.4(ASL):c.446+3G>C
NM_000048.4(ASL):c.447-10T>C
NM_000048.4(ASL):c.447-18G>C
NM_000048.4(ASL):c.447-2A>G
NM_000048.4(ASL):c.447-9C>T
NM_000048.4(ASL):c.451_452dup (p.Asp152fs) rs1786667696
NM_000048.4(ASL):c.452G>A (p.Arg151His)
NM_000048.4(ASL):c.454G>A (p.Asp152Asn) rs780023054
NM_000048.4(ASL):c.45T>C (p.Gly15=) rs2115690225
NM_000048.4(ASL):c.461T>C (p.Leu154Pro) rs869312988
NM_000048.4(ASL):c.465C>T (p.Phe155=)
NM_000048.4(ASL):c.467C>A (p.Pro156Gln)
NM_000048.4(ASL):c.471G>A (p.Gly157=)
NM_000048.4(ASL):c.471G>T (p.Gly157=)
NM_000048.4(ASL):c.478del (p.His160fs)
NM_000048.4(ASL):c.485A>G (p.Gln162Arg) rs1554327025
NM_000048.4(ASL):c.486G>A (p.Gln162=) rs1786669549
NM_000048.4(ASL):c.48A>G (p.Ala16=)
NM_000048.4(ASL):c.490G>C (p.Ala164Pro)
NM_000048.4(ASL):c.492C>T (p.Ala164=)
NM_000048.4(ASL):c.493C>T (p.Gln165Ter)
NM_000048.4(ASL):c.502C>T (p.Arg168Cys) rs766832061
NM_000048.4(ASL):c.502del (p.Arg168fs)
NM_000048.4(ASL):c.503G>A (p.Arg168His) rs727503811
NM_000048.4(ASL):c.509G>A (p.Ser170Asn) rs1180650883
NM_000048.4(ASL):c.51G>A (p.Val17=)
NM_000048.4(ASL):c.521T>C (p.Leu174Pro) rs2115724599
NM_000048.4(ASL):c.524+10G>A
NM_000048.4(ASL):c.524+14G>A rs1398644718
NM_000048.4(ASL):c.524+16T>C
NM_000048.4(ASL):c.524+17G>A
NM_000048.4(ASL):c.525-10C>T
NM_000048.4(ASL):c.525-11G>A
NM_000048.4(ASL):c.525-14C>T
NM_000048.4(ASL):c.525-16C>T
NM_000048.4(ASL):c.525-1G>A
NM_000048.4(ASL):c.525-8T>C
NM_000048.4(ASL):c.525_536del (p.Ser175_Ala179delinsArg)
NM_000048.4(ASL):c.530C>G (p.Ala177Gly) rs2115725413
NM_000048.4(ASL):c.531C>A (p.Ala177=) rs201974677
NM_000048.4(ASL):c.531C>T (p.Ala177=) rs201974677
NM_000048.4(ASL):c.533_557dup (p.Arg186_Leu187insGlyThrAspProArgLeuTer) rs796051932
NM_000048.4(ASL):c.540G>C (p.Leu180=) rs1584027903
NM_000048.4(ASL):c.544C>G (p.Arg182Gly)
NM_000048.4(ASL):c.545G>C (p.Arg182Pro)
NM_000048.4(ASL):c.549C>T (p.Asp183=)
NM_000048.4(ASL):c.54C>T (p.Asp18=) rs1309121791
NM_000048.4(ASL):c.551_552del (p.Asp183_Ser184insTer) rs1786675239
NM_000048.4(ASL):c.556C>T (p.Arg186Trp) rs111407265
NM_000048.4(ASL):c.562C>T (p.Leu188=)
NM_000048.4(ASL):c.564G>A (p.Leu188=)
NM_000048.4(ASL):c.564G>T (p.Leu188=)
NM_000048.4(ASL):c.569_573dup (p.Lys192fs)
NM_000048.4(ASL):c.571C>G (p.Arg191Gly) rs143508372
NM_000048.4(ASL):c.573G>C (p.Arg191=) rs1470984058
NM_000048.4(ASL):c.575_580dup (p.Lys192_Arg193dup) rs869312989
NM_000048.4(ASL):c.577C>A (p.Arg193=)
NM_000048.4(ASL):c.579G>C (p.Arg193=) rs2115725998
NM_000048.4(ASL):c.57del (p.Ile20fs)
NM_000048.4(ASL):c.586G>A (p.Val196Ile)
NM_000048.4(ASL):c.589C>T (p.Leu197=) rs2115726114
NM_000048.4(ASL):c.58del (p.Ile20fs)
NM_000048.4(ASL):c.594C>G (p.Pro198=) rs760887143
NM_000048.4(ASL):c.597G>C (p.Leu199=) rs1268487200
NM_000048.4(ASL):c.597G>T (p.Leu199=)
NM_000048.4(ASL):c.599G>T (p.Gly200Val) rs2115726233
NM_000048.4(ASL):c.5C>A (p.Ala2Asp)
NM_000048.4(ASL):c.602+18G>A
NM_000048.4(ASL):c.602+18G>T
NM_000048.4(ASL):c.602+19C>T
NM_000048.4(ASL):c.602+1G>T rs398123127
NM_000048.4(ASL):c.602+22del
NM_000048.4(ASL):c.602+2T>C
NM_000048.4(ASL):c.603-10G>A rs1179948747
NM_000048.4(ASL):c.603-12C>T
NM_000048.4(ASL):c.603-13C>T
NM_000048.4(ASL):c.603-14C>T
NM_000048.4(ASL):c.603-1G>C rs1584028936
NM_000048.4(ASL):c.603-20A>T rs376008291
NM_000048.4(ASL):c.603-2A>C
NM_000048.4(ASL):c.603-2A>G
NM_000048.4(ASL):c.603-7C>G
NM_000048.4(ASL):c.603-8C>T
NM_000048.4(ASL):c.606G>T (p.Gly202=) rs781714725
NM_000048.4(ASL):c.60C>T (p.Ile20=) rs910643561
NM_000048.4(ASL):c.611T>C (p.Ile204Thr)
NM_000048.4(ASL):c.612T>C (p.Ile204=) rs2115730140
NM_000048.4(ASL):c.614C>T (p.Ala205Val) rs796051925
NM_000048.4(ASL):c.616G>A (p.Gly206Ser)
NM_000048.4(ASL):c.617G>A (p.Gly206Asp)
NM_000048.4(ASL):c.617G>T (p.Gly206Val)
NM_000048.4(ASL):c.623C>G (p.Pro208Arg)
NM_000048.4(ASL):c.627G>A (p.Leu209=)
NM_000048.4(ASL):c.629del (p.Gly210fs)
NM_000048.4(ASL):c.631_647del (p.Val211fs) rs1554327181
NM_000048.4(ASL):c.638G>C (p.Arg213Pro)
NM_000048.4(ASL):c.639A>G (p.Arg213=)
NM_000048.4(ASL):c.651A>G (p.Arg217=)
NM_000048.4(ASL):c.655+10C>G rs756614378
NM_000048.4(ASL):c.655+16C>T
NM_000048.4(ASL):c.655+20C>T
NM_000048.4(ASL):c.655+5G>A
NM_000048.4(ASL):c.655+8G>T rs200203985
NM_000048.4(ASL):c.656-10_656-7del
NM_000048.4(ASL):c.656-10del rs2115732818
NM_000048.4(ASL):c.656-12C>T
NM_000048.4(ASL):c.656-13C>T
NM_000048.4(ASL):c.656-1G>A
NM_000048.4(ASL):c.656-2A>C
NM_000048.4(ASL):c.656-2A>T
NM_000048.4(ASL):c.656-3dup rs778811159
NM_000048.4(ASL):c.656-4C>G rs571362354
NM_000048.4(ASL):c.656-4C>T rs571362354
NM_000048.4(ASL):c.656-5C>A rs201814807
NM_000048.4(ASL):c.656-5C>G
NM_000048.4(ASL):c.656-5C>T rs201814807
NM_000048.4(ASL):c.656-6C>A
NM_000048.4(ASL):c.656-6C>T
NM_000048.4(ASL):c.656-7C>T
NM_000048.4(ASL):c.656-9C>A
NM_000048.4(ASL):c.656-9C>T
NM_000048.4(ASL):c.66G>A (p.Glu22=)
NM_000048.4(ASL):c.671C>T (p.Ala224Val) rs2115733053
NM_000048.4(ASL):c.672dup (p.Ile225fs)
NM_000048.4(ASL):c.674T>C (p.Ile225Thr)
NM_000048.4(ASL):c.675C>G (p.Ile225Met) rs1554327265
NM_000048.4(ASL):c.681C>T (p.Leu227=)
NM_000048.4(ASL):c.686G>C (p.Ser229Thr) rs1554327272
NM_000048.4(ASL):c.687C>T (p.Ser229=)
NM_000048.4(ASL):c.689T>C (p.Met230Thr)
NM_000048.4(ASL):c.690G>A (p.Met230Ile) rs2115733193
NM_000048.4(ASL):c.691G>C (p.Asp231His)
NM_000048.4(ASL):c.697A>T (p.Thr233Ser)
NM_000048.4(ASL):c.698C>G (p.Thr233Ser) rs1229119110
NM_000048.4(ASL):c.698_699delinsA (p.Thr233fs)
NM_000048.4(ASL):c.706C>T (p.Arg236Trp) rs761268464
NM_000048.4(ASL):c.711C>G (p.Asp237Glu)
NM_000048.4(ASL):c.711C>T (p.Asp237=)
NM_000048.4(ASL):c.717G>A (p.Val239=)
NM_000048.4(ASL):c.718+10G>C
NM_000048.4(ASL):c.718+15G>A
NM_000048.4(ASL):c.718+15G>C
NM_000048.4(ASL):c.718+1G>A
NM_000048.4(ASL):c.718+20T>C
NM_000048.4(ASL):c.718+5G>A rs869312990
NM_000048.4(ASL):c.718+7C>T
NM_000048.4(ASL):c.718+8C>T rs1445565689
NM_000048.4(ASL):c.719-13C>A
NM_000048.4(ASL):c.719-13C>T
NM_000048.4(ASL):c.719-19T>C
NM_000048.4(ASL):c.719-1G>C rs369828060
NM_000048.4(ASL):c.719-5C>T
NM_000048.4(ASL):c.720C>G (p.Ala240=) rs764072757
NM_000048.4(ASL):c.721G>A (p.Glu241Lys)
NM_000048.4(ASL):c.721G>T (p.Glu241Ter) rs1786746301
NM_000048.4(ASL):c.723G>A (p.Glu241=)
NM_000048.4(ASL):c.723G>C (p.Glu241Asp)
NM_000048.4(ASL):c.729G>A (p.Leu243=) rs1584031066
NM_000048.4(ASL):c.735G>A (p.Trp245Ter) rs1554327573
NM_000048.4(ASL):c.736G>A (p.Ala246Thr)
NM_000048.4(ASL):c.736del (p.Ala246fs)
NM_000048.4(ASL):c.741G>A (p.Ser247=) rs371927473
NM_000048.4(ASL):c.741G>C (p.Ser247=) rs371927473
NM_000048.4(ASL):c.741G>T (p.Ser247=) rs371927473
NM_000048.4(ASL):c.746G>T (p.Cys249Phe) rs2115739143
NM_000048.4(ASL):c.749T>A (p.Met250Lys)
NM_000048.4(ASL):c.754C>T (p.His252Tyr)
NM_000048.4(ASL):c.762C>A (p.Ser254Arg) rs869312991
NM_000048.4(ASL):c.765dup (p.Met256fs) rs1562742141
NM_000048.4(ASL):c.767T>C (p.Met256Thr)
NM_000048.4(ASL):c.771C>A (p.Ala257=) rs375586912
NM_000048.4(ASL):c.778C>T (p.Leu260Phe)
NM_000048.4(ASL):c.785T>C (p.Leu262Pro) rs1554327586
NM_000048.4(ASL):c.786C>G (p.Leu262=)
NM_000048.4(ASL):c.78G>A (p.Ala26=) rs115069006
NM_000048.4(ASL):c.78G>C (p.Ala26=) rs115069006
NM_000048.4(ASL):c.78G>T (p.Ala26=) rs115069006
NM_000048.4(ASL):c.803del (p.Phe268fs)
NM_000048.4(ASL):c.810C>T (p.Phe270=)
NM_000048.4(ASL):c.811G>T (p.Val271Leu)
NM_000048.4(ASL):c.813G>A (p.Val271=)
NM_000048.4(ASL):c.814C>T (p.Gln272Ter) rs1786750679
NM_000048.4(ASL):c.81C>T (p.Ser27=) rs2115690655
NM_000048.4(ASL):c.822A>G (p.Ser274=)
NM_000048.4(ASL):c.831C>T (p.Tyr277=) rs2115739815
NM_000048.4(ASL):c.833+19C>T
NM_000048.4(ASL):c.833+7C>T rs2115739894
NM_000048.4(ASL):c.834-12C>T
NM_000048.4(ASL):c.834-13C>T
NM_000048.4(ASL):c.834-1G>A
NM_000048.4(ASL):c.834-20G>T
NM_000048.4(ASL):c.834-5C>A
NM_000048.4(ASL):c.834-5C>T rs373749562
NM_000048.4(ASL):c.834-6C>T
NM_000048.4(ASL):c.834-9T>C
NM_000048.4(ASL):c.837G>A (p.Thr279=)
NM_000048.4(ASL):c.837G>C (p.Thr279=) rs543255240
NM_000048.4(ASL):c.837G>T (p.Thr279=)
NM_000048.4(ASL):c.843C>T (p.Ser281=) rs2115741445
NM_000048.4(ASL):c.849G>A (p.Leu283=)
NM_000048.4(ASL):c.855C>G (p.Pro285=) rs760378137
NM_000048.4(ASL):c.857A>C (p.Gln286Pro)
NM_000048.4(ASL):c.870C>T (p.Pro290=) rs764804216
NM_000048.4(ASL):c.870del (p.Asp291fs)
NM_000048.4(ASL):c.871G>A (p.Asp291Asn)
NM_000048.4(ASL):c.888C>T (p.Ile296=)
NM_000048.4(ASL):c.889C>T (p.Arg297Trp) rs869312992
NM_000048.4(ASL):c.891G>T (p.Arg297=) rs1377192458
NM_000048.4(ASL):c.903G>A (p.Gly301=) rs2115741935
NM_000048.4(ASL):c.907G>A (p.Val303Met)
NM_000048.4(ASL):c.909G>A (p.Val303=)
NM_000048.4(ASL):c.916C>A (p.Arg306=)
NM_000048.4(ASL):c.916C>T (p.Arg306Trp) rs868834862
NM_000048.4(ASL):c.917G>C (p.Arg306Pro) rs755245694
NM_000048.4(ASL):c.918+10G>A
NM_000048.4(ASL):c.918+11_918+14dup rs2115742201
NM_000048.4(ASL):c.918+12A>G rs2115742216
NM_000048.4(ASL):c.918+12del
NM_000048.4(ASL):c.918+17dup
NM_000048.4(ASL):c.918+18A>G
NM_000048.4(ASL):c.918+19G>A
NM_000048.4(ASL):c.918+8A>G
NM_000048.4(ASL):c.918_919-31del rs2115742136
NM_000048.4(ASL):c.919-10_919-9del
NM_000048.4(ASL):c.919-12C>T
NM_000048.4(ASL):c.919-16C>A
NM_000048.4(ASL):c.919-1G>A rs1786770612
NM_000048.4(ASL):c.919-20G>A
NM_000048.4(ASL):c.919-4G>T rs756230523
NM_000048.4(ASL):c.919-5C>T rs746354859
NM_000048.4(ASL):c.919-7C>T
NM_000048.4(ASL):c.919del (p.Cys307fs)
NM_000048.4(ASL):c.925G>A (p.Gly309Arg) rs769506424
NM_000048.4(ASL):c.927G>A (p.Gly309=)
NM_000048.4(ASL):c.927G>C (p.Gly309=) rs151294789
NM_000048.4(ASL):c.928C>T (p.Leu310Phe) rs1168345442
NM_000048.4(ASL):c.930C>T (p.Leu310=)
NM_000048.4(ASL):c.932T>C (p.Leu311Pro)
NM_000048.4(ASL):c.944A>G (p.Lys315Arg)
NM_000048.4(ASL):c.94C>T (p.Arg32Trp)
NM_000048.4(ASL):c.94_100del (p.Arg32fs) rs1554326263
NM_000048.4(ASL):c.951T>A (p.Leu317=) rs765914227
NM_000048.4(ASL):c.960C>A (p.Thr320=) rs2115743513
NM_000048.4(ASL):c.963C>A (p.Tyr321Ter)
NM_000048.4(ASL):c.963C>T (p.Tyr321=)
NM_000048.4(ASL):c.966_974dup (p.Asp324_Leu325insPheLysAsp) rs2115743637
NM_000048.4(ASL):c.96G>C (p.Arg32=) rs2115690889
NM_000048.4(ASL):c.973_976del (p.Leu325fs) rs763407938
NM_000048.4(ASL):c.974T>G (p.Leu325Ter)
NM_000048.4(ASL):c.976C>T (p.Gln326Ter)
NM_000048.4(ASL):c.978+10C>G rs535237668
NM_000048.4(ASL):c.978+10C>T rs535237668
NM_000048.4(ASL):c.978+11G>A
NM_000048.4(ASL):c.978+12G>A
NM_000048.4(ASL):c.978+15G>A
NM_000048.4(ASL):c.978+15del rs535066653
NM_000048.4(ASL):c.978+15dup rs535066653
NM_000048.4(ASL):c.978+17G>A rs548786563
NM_000048.4(ASL):c.978+17G>T
NM_000048.4(ASL):c.978+1G>A
NM_000048.4(ASL):c.978+30C>T rs160647
NM_000048.4(ASL):c.978+5G>A
NM_000048.4(ASL):c.979-11G>T
NM_000048.4(ASL):c.979-12T>C
NM_000048.4(ASL):c.979-13A>G
NM_000048.4(ASL):c.979-15C>T
NM_000048.4(ASL):c.979-16G>A
NM_000048.4(ASL):c.979-18C>G
NM_000048.4(ASL):c.979-3C>T
NM_000048.4(ASL):c.979-6T>C rs1584032729
NM_000048.4(ASL):c.979-9G>A rs2115746380
NM_000048.4(ASL):c.984C>T (p.Asp328=) rs2115746525
NM_000048.4(ASL):c.990A>G (p.Glu330=)
NM_000048.4(ASL):c.996G>A (p.Val332=)
NM_000048.4(ASL):c.999_1000del (p.Phe333fs)
NM_000048.4(ASL):c.99C>A (p.His33Gln)
NM_000048.4(ASL):c.99C>G (p.His33Gln) rs142077823
NM_000048.4(ASL):c.99C>T (p.His33=) rs142077823

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