ClinVar Miner

List of variants reported as likely benign for argininosuccinic aciduria

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 427
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HGVS dbSNP gnomAD frequency
NM_000048.4(ASL):c.*218C>T rs115226772 0.00375
NM_000048.4(ASL):c.162C>T (p.Leu54=) rs140221164 0.00238
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.392C>T (p.Thr131Met) rs143793815 0.00042
NM_000048.4(ASL):c.1200C>G (p.Thr400=) rs370291313 0.00037
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.1098C>T (p.Pro366=) rs138511394 0.00014
NM_000048.4(ASL):c.135C>T (p.Tyr45=) rs200619443 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.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.524+12G>T rs200700775 0.00009
NM_000048.4(ASL):c.1342G>A (p.Val448Ile) rs139410488 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.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.1293G>A (p.Gly431=) rs977248418 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.849G>C (p.Leu283=) rs771334759 0.00006
NM_000048.4(ASL):c.919-10C>T rs199585001 0.00006
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.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.1063-8G>A rs548397162 0.00004
NM_000048.4(ASL):c.13-4C>T rs201082875 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.1242G>A (p.Gln414=) rs144716217 0.00003
NM_000048.4(ASL):c.1389G>A (p.Gln463=) rs149698725 0.00003
NM_000048.4(ASL):c.291+7C>G rs371162956 0.00003
NM_000048.4(ASL):c.924C>T (p.Ala308=) rs747831550 0.00003
NM_000048.4(ASL):c.1023C>T (p.Ala341=) rs530889593 0.00002
NM_000048.4(ASL):c.1170C>A (p.Ala390=) rs747116101 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.498C>T (p.Pro166=) rs1293664442 0.00002
NM_000048.4(ASL):c.771C>T (p.Ala257=) rs375586912 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.919-4G>A rs756230523 0.00002
NM_000048.4(ASL):c.1014T>C (p.Thr338=) rs1396048492 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.1143+8T>C rs1015804553 0.00001
NM_000048.4(ASL):c.1143+9G>A rs368891277 0.00001
NM_000048.4(ASL):c.1173C>T (p.Ser391=) rs1436177232 0.00001
NM_000048.4(ASL):c.12+10A>T rs746934631 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.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.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.1341C>T (p.Ser447=) rs558327619 0.00001
NM_000048.4(ASL):c.1344C>T (p.Val448=) rs144011206 0.00001
NM_000048.4(ASL):c.141G>A (p.Arg47=) rs569936169 0.00001
NM_000048.4(ASL):c.195T>C (p.His65=) rs1431884873 0.00001
NM_000048.4(ASL):c.246C>T (p.Asn82=) rs1281983139 0.00001
NM_000048.4(ASL):c.279G>A (p.Glu93=) rs1228047537 0.00001
NM_000048.4(ASL):c.292-14C>T rs376560894 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.446+7C>A rs1224014280 0.00001
NM_000048.4(ASL):c.462C>T (p.Leu154=) rs1303394917 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.552T>C (p.Ser184=) rs1786675333 0.00001
NM_000048.4(ASL):c.582C>T (p.Ile194=) rs746394101 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.603-5T>C rs367999318 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.660C>T (p.Leu220=) rs1562741433 0.00001
NM_000048.4(ASL):c.693T>C (p.Asp231=) rs1312699116 0.00001
NM_000048.4(ASL):c.708G>C (p.Arg236=) rs1206710088 0.00001
NM_000048.4(ASL):c.720C>T (p.Ala240=) rs764072757 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.834-14A>G rs1786759930 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
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.1050C>T (p.Ile350=)
NM_000048.4(ASL):c.1056G>C (p.Thr352=) rs745476328
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+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.1063-15C>T
NM_000048.4(ASL):c.1063-19C>T
NM_000048.4(ASL):c.1065T>A (p.Ile355=)
NM_000048.4(ASL):c.1068C>T (p.His356=)
NM_000048.4(ASL):c.1077C>T (p.Asn359=) rs372785881
NM_000048.4(ASL):c.1095C>T (p.Ser365=) rs749559501
NM_000048.4(ASL):c.1143+16C>A
NM_000048.4(ASL):c.1143+18del
NM_000048.4(ASL):c.1143+20G>T
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.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.1176G>C (p.Gly392=) rs2115764470
NM_000048.4(ASL):c.1185G>C (p.Val395=)
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.12+11C>A
NM_000048.4(ASL):c.12+14C>T
NM_000048.4(ASL):c.12+15G>T
NM_000048.4(ASL):c.12+17G>A
NM_000048.4(ASL):c.12+20C>A
NM_000048.4(ASL):c.12+8G>A
NM_000048.4(ASL):c.1206G>A (p.Gly402=)
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.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.1230G>A (p.Leu410=)
NM_000048.4(ASL):c.1250+11del
NM_000048.4(ASL):c.1250+18C>T
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.1296C>T (p.His432=)
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.13-7T>C
NM_000048.4(ASL):c.13-8C>T rs2115689858
NM_000048.4(ASL):c.1317C>T (p.Ala439=) rs755170923
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.1386G>A (p.Gln462=) rs1274669918
NM_000048.4(ASL):c.1395G>A (p.Ter465=) rs1339615185
NM_000048.4(ASL):c.144C>T (p.Gly48=)
NM_000048.4(ASL):c.165C>T (p.Leu55=)
NM_000048.4(ASL):c.174C>A (p.Ala58=)
NM_000048.4(ASL):c.18G>A (p.Gly6=)
NM_000048.4(ASL):c.204C>T (p.Asp68=) rs2115691807
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.208-14G>T
NM_000048.4(ASL):c.208-19T>C
NM_000048.4(ASL):c.208-5T>C
NM_000048.4(ASL):c.225C>A (p.Ala75=)
NM_000048.4(ASL):c.241C>T (p.Leu81=) rs1297216151
NM_000048.4(ASL):c.252T>C (p.Asn84=)
NM_000048.4(ASL):c.255T>C (p.Asp85=) rs2115694775
NM_000048.4(ASL):c.261C>T (p.Asp87=) rs1215546982
NM_000048.4(ASL):c.267C>T (p.His89=)
NM_000048.4(ASL):c.276T>C (p.Asn92=) rs780895668
NM_000048.4(ASL):c.282C>T (p.Arg94=) rs2115695015
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.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+7C>A rs371162956
NM_000048.4(ASL):c.291+8C>A rs781492633
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.306A>C (p.Ala102=) rs192537483
NM_000048.4(ASL):c.309G>C (p.Thr103=)
NM_000048.4(ASL):c.324C>T (p.His108=)
NM_000048.4(ASL):c.333G>T (p.Arg111=) rs2115698584
NM_000048.4(ASL):c.348+10C>T rs779302505
NM_000048.4(ASL):c.348+12C>T
NM_000048.4(ASL):c.348+18C>G
NM_000048.4(ASL):c.348+19C>T
NM_000048.4(ASL):c.348+20C>G
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.396C>T (p.Leu132=) rs2115700372
NM_000048.4(ASL):c.399G>C (p.Ser133=) rs141584041
NM_000048.4(ASL):c.402C>A (p.Gly134=) rs1308519514
NM_000048.4(ASL):c.405C>T (p.Leu135=) rs372653036
NM_000048.4(ASL):c.408C>T (p.Leu136=)
NM_000048.4(ASL):c.426C>T (p.Thr142=)
NM_000048.4(ASL):c.446+14G>A
NM_000048.4(ASL):c.447-10T>C
NM_000048.4(ASL):c.447-18G>C
NM_000048.4(ASL):c.447-9C>T
NM_000048.4(ASL):c.45T>C (p.Gly15=) rs2115690225
NM_000048.4(ASL):c.465C>T (p.Phe155=)
NM_000048.4(ASL):c.471G>A (p.Gly157=)
NM_000048.4(ASL):c.471G>T (p.Gly157=)
NM_000048.4(ASL):c.486G>A (p.Gln162=) rs1786669549
NM_000048.4(ASL):c.48A>G (p.Ala16=)
NM_000048.4(ASL):c.492C>T (p.Ala164=)
NM_000048.4(ASL):c.51G>A (p.Val17=)
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.525-8T>C
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.540G>C (p.Leu180=) rs1584027903
NM_000048.4(ASL):c.549C>T (p.Asp183=)
NM_000048.4(ASL):c.54C>T (p.Asp18=) rs1309121791
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.573G>C (p.Arg191=) rs1470984058
NM_000048.4(ASL):c.577C>A (p.Arg193=)
NM_000048.4(ASL):c.579G>C (p.Arg193=) rs2115725998
NM_000048.4(ASL):c.589C>T (p.Leu197=) rs2115726114
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.602+18G>A
NM_000048.4(ASL):c.602+18G>T
NM_000048.4(ASL):c.602+19C>T
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.603-20A>T rs376008291
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.612T>C (p.Ile204=) rs2115730140
NM_000048.4(ASL):c.627G>A (p.Leu209=)
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+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.656-3dup 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.681C>T (p.Leu227=)
NM_000048.4(ASL):c.687C>T (p.Ser229=)
NM_000048.4(ASL):c.711C>T (p.Asp237=)
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+20T>C
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.719-5C>T
NM_000048.4(ASL):c.720C>G (p.Ala240=) rs764072757
NM_000048.4(ASL):c.723G>A (p.Glu241=)
NM_000048.4(ASL):c.729G>A (p.Leu243=) rs1584031066
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.771C>A (p.Ala257=) rs375586912
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.810C>T (p.Phe270=)
NM_000048.4(ASL):c.813G>A (p.Val271=)
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.834-20G>T
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>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.870C>T (p.Pro290=) rs764804216
NM_000048.4(ASL):c.888C>T (p.Ile296=)
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.909G>A (p.Val303=)
NM_000048.4(ASL):c.916C>A (p.Arg306=)
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+18A>G
NM_000048.4(ASL):c.918+19G>A
NM_000048.4(ASL):c.918+8A>G
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.919-20G>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.927G>A (p.Gly309=)
NM_000048.4(ASL):c.927G>C (p.Gly309=) rs151294789
NM_000048.4(ASL):c.930C>T (p.Leu310=)
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>T (p.Tyr321=)
NM_000048.4(ASL):c.96G>C (p.Arg32=) rs2115690889
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+17G>T
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.979-6T>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.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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