ClinVar Miner

List of variants studied for X-linked severe congenital neutropenia by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 501
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HGVS dbSNP gnomAD frequency
NM_000377.3(WAS):c.995T>C (p.Val332Ala) rs2737799 0.00489
NM_000377.3(WAS):c.391G>A (p.Glu131Lys) rs146220228 0.00222
NM_000377.3(WAS):c.1276G>T (p.Ala426Ser) rs201085962 0.00160
NM_000377.3(WAS):c.1378C>T (p.Pro460Ser) rs143885622 0.00152
NM_000377.3(WAS):c.1453+16C>T rs200543049 0.00115
NM_000377.3(WAS):c.413G>A (p.Arg138Gln) rs139265251 0.00073
NM_000377.3(WAS):c.538C>A (p.His180Asn) rs145040665 0.00063
NM_000377.3(WAS):c.90C>T (p.His30=) rs148800063 0.00053
NM_000377.3(WAS):c.1181C>T (p.Pro394Leu) rs373524969 0.00031
NM_000377.3(WAS):c.873C>T (p.Tyr291=) rs149123892 0.00029
NM_000377.3(WAS):c.1110A>C (p.Pro370=) rs782244198 0.00028
NM_000377.3(WAS):c.1200G>A (p.Pro400=) rs375356111 0.00028
NM_000377.3(WAS):c.1455C>T (p.Asp485=) rs35359501 0.00021
NM_000377.3(WAS):c.1339-18G>A rs370010448 0.00020
NM_000377.3(WAS):c.1191G>A (p.Pro397=) rs782486251 0.00019
NM_000377.3(WAS):c.1280C>T (p.Pro427Leu) rs782307200 0.00019
NM_000377.3(WAS):c.206G>C (p.Cys69Ser) rs374283590 0.00011
NM_000377.3(WAS):c.266G>A (p.Gly89Asp) rs139857045 0.00011
NM_000377.3(WAS):c.593C>T (p.Ala198Val) rs200261212 0.00011
NM_000377.3(WAS):c.559+3G>A rs782645822 0.00010
NM_000377.3(WAS):c.903G>C (p.Glu301Asp) rs781898144 0.00010
NM_000377.3(WAS):c.351C>T (p.Phe117=) rs143299151 0.00009
NM_000377.3(WAS):c.696G>A (p.Lys232=) rs368379103 0.00009
NM_000377.3(WAS):c.803G>A (p.Arg268Gln) rs376560886 0.00009
NM_000377.3(WAS):c.264C>T (p.Tyr88=) rs150520117 0.00008
NM_000377.3(WAS):c.285G>A (p.Leu95=) rs781799471 0.00008
NM_000377.3(WAS):c.1208C>T (p.Pro403Leu) rs782666797 0.00006
NM_000377.3(WAS):c.1299G>A (p.Ala433=) rs372649110 0.00006
NM_000377.3(WAS):c.1339-3C>T rs373491815 0.00006
NM_000377.3(WAS):c.273+14C>T rs782249573 0.00006
NM_000377.3(WAS):c.724A>T (p.Ser242Cys) rs782286374 0.00006
NM_000377.3(WAS):c.1081C>A (p.Pro361Thr) rs201657175 0.00005
NM_000377.3(WAS):c.1252G>T (p.Ala418Ser) rs782784813 0.00005
NM_000377.3(WAS):c.361-17C>T rs782768055 0.00005
NM_000377.3(WAS):c.490A>C (p.Thr164Pro) rs781918613 0.00005
NM_000377.3(WAS):c.69C>T (p.Pro23=) rs1557006235 0.00005
NM_000377.3(WAS):c.941C>T (p.Pro314Leu) rs782752881 0.00005
NM_000377.3(WAS):c.1150C>T (p.Pro384Ser) rs782761074 0.00004
NM_000377.3(WAS):c.463+3G>C rs1274245256 0.00004
NM_000377.3(WAS):c.133-18C>T rs782578064 0.00003
NM_000377.3(WAS):c.1388C>T (p.Ser463Leu) rs782636781 0.00003
NM_000377.3(WAS):c.339C>T (p.Phe113=) rs782233413 0.00003
NM_000377.3(WAS):c.463+14A>C rs1338084492 0.00003
NM_000377.3(WAS):c.594G>A (p.Ala198=) rs376545922 0.00003
NM_000377.3(WAS):c.912G>A (p.Arg304=) rs782572275 0.00003
NM_000377.3(WAS):c.1049C>T (p.Ala350Val) rs1307143057 0.00002
NM_000377.3(WAS):c.1070G>A (p.Arg357Gln) rs1286831963 0.00002
NM_000377.3(WAS):c.1129C>T (p.Arg377Cys) rs1257775061 0.00002
NM_000377.3(WAS):c.1218C>T (p.Ser406=) rs370053372 0.00002
NM_000377.3(WAS):c.1245C>T (p.Leu415=) rs1557007301 0.00002
NM_000377.3(WAS):c.1253C>T (p.Ala418Val) rs781903491 0.00002
NM_000377.3(WAS):c.1266C>T (p.Ala422=) rs782041815 0.00002
NM_000377.3(WAS):c.1476C>T (p.Gly492=) rs1161895393 0.00002
NM_000377.3(WAS):c.1477G>A (p.Asp493Asn) rs781790075 0.00002
NM_000377.3(WAS):c.16A>G (p.Met6Val) rs782730988 0.00002
NM_000377.3(WAS):c.249C>T (p.Tyr83=) rs368151220 0.00002
NM_000377.3(WAS):c.273+15C>T rs1286865928 0.00002
NM_000377.3(WAS):c.274-4C>T rs782527416 0.00002
NM_000377.3(WAS):c.390C>T (p.Asp130=) rs782593697 0.00002
NM_000377.3(WAS):c.420C>T (p.Leu140=) rs782639067 0.00002
NM_000377.3(WAS):c.575C>T (p.Pro192Leu) rs782745511 0.00002
NM_000377.3(WAS):c.679C>T (p.Arg227Cys) rs1395882218 0.00002
NM_000377.3(WAS):c.802C>T (p.Arg268Trp) rs782149318 0.00002
NM_000377.3(WAS):c.975G>C (p.Gln325His) rs930931192 0.00002
NM_000377.3(WAS):c.999G>A (p.Gly333=) rs369654974 0.00002
NM_000377.3(WAS):c.1112C>T (p.Pro371Leu) rs1557007203 0.00001
NM_000377.3(WAS):c.1130G>A (p.Arg377His) rs868995772 0.00001
NM_000377.3(WAS):c.1156C>T (p.Pro386Ser) rs895243178 0.00001
NM_000377.3(WAS):c.1219G>A (p.Gly407Arg) rs782602857 0.00001
NM_000377.3(WAS):c.1255C>A (p.Leu419Met) rs1422863482 0.00001
NM_000377.3(WAS):c.1300C>T (p.Leu434Phe) rs782605668 0.00001
NM_000377.3(WAS):c.1303T>C (p.Leu435=) rs1557007338 0.00001
NM_000377.3(WAS):c.1338+8C>T rs782158640 0.00001
NM_000377.3(WAS):c.1339-4G>A rs782436940 0.00001
NM_000377.3(WAS):c.1407C>T (p.Ala469=) rs782264561 0.00001
NM_000377.3(WAS):c.1416C>T (p.His472=) rs377442612 0.00001
NM_000377.3(WAS):c.1425G>A (p.Gln475=) rs1351097717 0.00001
NM_000377.3(WAS):c.1479T>C (p.Asp493=) rs782452466 0.00001
NM_000377.3(WAS):c.184G>C (p.Glu62Gln) rs141605347 0.00001
NM_000377.3(WAS):c.223G>A (p.Val75Met) rs782290433 0.00001
NM_000377.3(WAS):c.327C>G (p.Thr109=) rs1288545461 0.00001
NM_000377.3(WAS):c.360+8A>G rs1557006508 0.00001
NM_000377.3(WAS):c.411C>T (p.Phe137=) rs1474269671 0.00001
NM_000377.3(WAS):c.458G>T (p.Ser153Ile) rs1557006588 0.00001
NM_000377.3(WAS):c.459T>G (p.Ser153Arg) rs1557006590 0.00001
NM_000377.3(WAS):c.505+3_505+7dup rs1557006628 0.00001
NM_000377.3(WAS):c.68C>G (p.Pro23Arg) rs1464176187 0.00001
NM_000377.3(WAS):c.74C>T (p.Thr25Ile) rs374574436 0.00001
NM_000377.3(WAS):c.844A>G (p.Thr282Ala) rs1557007029 0.00001
NM_000377.3(WAS):c.849C>T (p.Asp283=) rs1557007034 0.00001
NM_000377.3(WAS):c.867T>C (p.Leu289=) rs781855402 0.00001
NM_000377.3(WAS):c.897G>A (p.Gly299=) rs782793103 0.00001
NM_000377.3(WAS):c.926G>A (p.Arg309His) rs1557007058 0.00001
NM_000377.3(WAS):c.946C>A (p.Pro316Thr) rs372779500 0.00001
NM_000377.3(WAS):c.954G>A (p.Pro318=) rs1366022019 0.00001
NM_000377.3(WAS):c.962G>A (p.Arg321Gln) rs782802310 0.00001
NM_000377.3(WAS):c.982C>T (p.Arg328Trp) rs1395979315 0.00001
NM_000377.3(WAS):c.985C>G (p.Pro329Ala) rs1557007136 0.00001
NM_000377.3(WAS):c.989C>T (p.Pro330Leu) rs1178247738 0.00001
NC_000023.10:g.(?_46618120)_(48549553_?)del
NC_000023.10:g.(?_48368209)_(51241672_?)dup
NC_000023.10:g.(?_48542223)_(48549573_?)dup
NC_000023.10:g.(?_48542233)_(48542384_?)del
NC_000023.10:g.(?_48542243)_(48549553_?)dup
NC_000023.10:g.(?_48549478)_(48549573_?)dup
NM_000377.3(WAS):c.-37_132+35del rs1602176146
NM_000377.3(WAS):c.1001G>A (p.Gly334Asp)
NM_000377.3(WAS):c.1001del (p.Gly334fs) rs1569494025
NM_000377.3(WAS):c.1001dup (p.Gly334_Asn335insTer) rs1569494025
NM_000377.3(WAS):c.1009G>A (p.Gly337Ser)
NM_000377.3(WAS):c.100C>T (p.Arg34Ter) rs132630271
NM_000377.3(WAS):c.1021_1022insT (p.Pro341fs) rs2147266379
NM_000377.3(WAS):c.1022C>T (p.Pro341Leu)
NM_000377.3(WAS):c.1026G>A (p.Leu342=)
NM_000377.3(WAS):c.1028C>T (p.Pro343Leu)
NM_000377.3(WAS):c.1032T>G (p.Pro344=)
NM_000377.3(WAS):c.1038T>G (p.Pro346=)
NM_000377.3(WAS):c.1039T>C (p.Leu347=)
NM_000377.3(WAS):c.1040dup (p.Leu347fs)
NM_000377.3(WAS):c.1053A>C (p.Pro351=)
NM_000377.3(WAS):c.1056C>T (p.Pro352=)
NM_000377.3(WAS):c.1057CCA[1] (p.Pro354del) rs1569494034
NM_000377.3(WAS):c.1058dup (p.Pro354fs) rs1557007165
NM_000377.3(WAS):c.1059A>C (p.Pro353=)
NM_000377.3(WAS):c.1062A>C (p.Pro354=)
NM_000377.3(WAS):c.1067C>A (p.Pro356His)
NM_000377.3(WAS):c.1068C>T (p.Pro356=)
NM_000377.3(WAS):c.1073G>A (p.Gly358Glu) rs267606468
NM_000377.3(WAS):c.1073dup (p.Pro359fs)
NM_000377.3(WAS):c.1074A>C (p.Gly358=)
NM_000377.3(WAS):c.1075C>T (p.Pro359Ser) rs2062428888
NM_000377.3(WAS):c.1080A>C (p.Pro360=) rs1409607754
NM_000377.3(WAS):c.1084C>A (p.Pro362Thr) rs2147266477
NM_000377.3(WAS):c.1085del (p.Pro362fs) rs2147266474
NM_000377.3(WAS):c.1086A>C (p.Pro362=)
NM_000377.3(WAS):c.1086A>G (p.Pro362=) rs1304836055
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter) rs2062429013
NM_000377.3(WAS):c.1092A>C (p.Arg364=)
NM_000377.3(WAS):c.1101T>C (p.Pro367=)
NM_000377.3(WAS):c.1101T>G (p.Pro367=)
NM_000377.3(WAS):c.1104A>C (p.Pro368=)
NM_000377.3(WAS):c.1107A>C (p.Pro369=)
NM_000377.3(WAS):c.1107A>G (p.Pro369=)
NM_000377.3(WAS):c.1113C>T (p.Pro371=)
NM_000377.3(WAS):c.1116T>A (p.Pro372=)
NM_000377.3(WAS):c.1116T>C (p.Pro372=)
NM_000377.3(WAS):c.1119A>C (p.Pro373=)
NM_000377.3(WAS):c.1122T>C (p.Ala374=)
NM_000377.3(WAS):c.1122T>G (p.Ala374=)
NM_000377.3(WAS):c.1125T>A (p.Thr375=)
NM_000377.3(WAS):c.1125T>G (p.Thr375=)
NM_000377.3(WAS):c.1128A>G (p.Gly376=)
NM_000377.3(WAS):c.1131T>G (p.Arg377=)
NM_000377.3(WAS):c.1134T>G (p.Ser378=)
NM_000377.3(WAS):c.1135G>A (p.Gly379Arg)
NM_000377.3(WAS):c.1140A>C (p.Pro380=)
NM_000377.3(WAS):c.1148C>T (p.Pro383Leu)
NM_000377.3(WAS):c.1155C>T (p.Pro385=)
NM_000377.3(WAS):c.1157del (p.Pro386fs) rs886041379
NM_000377.3(WAS):c.1166G>A (p.Gly389Asp)
NM_000377.3(WAS):c.1174C>A (p.Pro392Thr) rs1043747875
NM_000377.3(WAS):c.1179_1187dup (p.Pro404_Ser405insProProPro)
NM_000377.3(WAS):c.1188ACCGCCACC[1] (p.Pro402_Pro404del) rs193922412
NM_000377.3(WAS):c.1188ACCGCCACC[3] (p.Pro404_Ser405insProProPro)
NM_000377.3(WAS):c.1196C>G (p.Pro399Arg) rs1602179582
NM_000377.3(WAS):c.1197A>G (p.Pro399=) rs1602179584
NM_000377.3(WAS):c.1199C>T (p.Pro400Leu) rs782596670
NM_000377.3(WAS):c.11del (p.Gly4fs) rs587776745
NM_000377.3(WAS):c.1203_1211dup (p.Pro402_Pro404dup) rs2062430236
NM_000377.3(WAS):c.1203del (p.Pro402fs)
NM_000377.3(WAS):c.1206G>A (p.Pro402=)
NM_000377.3(WAS):c.1209G>A (p.Pro403=)
NM_000377.3(WAS):c.121C>T (p.Arg41Ter) rs11545907
NM_000377.3(WAS):c.1221del (p.Asn408fs)
NM_000377.3(WAS):c.1229C>G (p.Pro410Arg)
NM_000377.3(WAS):c.1244T>C (p.Leu415Pro)
NM_000377.3(WAS):c.1247C>T (p.Pro416Leu)
NM_000377.3(WAS):c.1252G>A (p.Ala418Thr) rs782784813
NM_000377.3(WAS):c.1263T>A (p.Pro421=)
NM_000377.3(WAS):c.1266del (p.Gly424fs)
NM_000377.3(WAS):c.1267G>A (p.Gly423Arg)
NM_000377.3(WAS):c.1271del (p.Gly424fs)
NM_000377.3(WAS):c.1271dup (p.Leu425fs) rs1557007312
NM_000377.3(WAS):c.1272C>T (p.Gly424=)
NM_000377.3(WAS):c.1272_1277delinsGCCTGG (p.Leu425_Ala426delinsProGly) rs2062430786
NM_000377.3(WAS):c.1274T>C (p.Leu425Pro)
NM_000377.3(WAS):c.1291C>T (p.Arg431Trp)
NM_000377.3(WAS):c.1293G>A (p.Arg431=)
NM_000377.3(WAS):c.1299G>T (p.Ala433=)
NM_000377.3(WAS):c.130T>G (p.Leu44Val)
NM_000377.3(WAS):c.1310A>C (p.Gln437Pro) rs2062431125
NM_000377.3(WAS):c.1316G>C (p.Arg439Pro) rs2062431180
NM_000377.3(WAS):c.1318C>A (p.Gln440Lys)
NM_000377.3(WAS):c.1318C>T (p.Gln440Ter)
NM_000377.3(WAS):c.132+14C>G
NM_000377.3(WAS):c.1320G>A (p.Gln440=)
NM_000377.3(WAS):c.133-15G>A
NM_000377.3(WAS):c.133-19C>G
NM_000377.3(WAS):c.133-19C>T
NM_000377.3(WAS):c.133-5C>T
NM_000377.3(WAS):c.1335C>T (p.Asn445=)
NM_000377.3(WAS):c.1338+13A>G
NM_000377.3(WAS):c.1338+13A>T
NM_000377.3(WAS):c.1338+9A>C
NM_000377.3(WAS):c.1339-2A>G rs2147267240
NM_000377.3(WAS):c.1339-6C>G rs1207805593
NM_000377.3(WAS):c.1341C>A (p.Thr447=)
NM_000377.3(WAS):c.1342C>T (p.Pro448Ser)
NM_000377.3(WAS):c.134C>T (p.Thr45Met) rs132630273
NM_000377.3(WAS):c.135G>A (p.Thr45=)
NM_000377.3(WAS):c.135G>T (p.Thr45=)
NM_000377.3(WAS):c.1366C>T (p.Leu456=)
NM_000377.3(WAS):c.136C>T (p.Leu46=)
NM_000377.3(WAS):c.1379C>G (p.Pro460Arg) rs782489472
NM_000377.3(WAS):c.138G>A (p.Leu46=)
NM_000377.3(WAS):c.1391A>G (p.Glu464Gly) rs2062432588
NM_000377.3(WAS):c.1417G>A (p.Val473Met)
NM_000377.3(WAS):c.141C>T (p.Ala47=) rs1602176588
NM_000377.3(WAS):c.142A>C (p.Thr48Pro) rs2062412197
NM_000377.3(WAS):c.1440C>T (p.Ala480=)
NM_000377.3(WAS):c.1453+12C>T
NM_000377.3(WAS):c.1453+17G>A
NM_000377.3(WAS):c.1453+20G>C
NM_000377.3(WAS):c.1453+2T>G rs2147267350
NM_000377.3(WAS):c.1453+6C>G
NM_000377.3(WAS):c.1453+9A>C
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn) rs1064793293
NM_000377.3(WAS):c.1454-11T>C
NM_000377.3(WAS):c.1454-12C>A
NM_000377.3(WAS):c.1454-12C>T
NM_000377.3(WAS):c.1454-5T>C
NM_000377.3(WAS):c.1454-6C>T
NM_000377.3(WAS):c.1454-7C>T
NM_000377.3(WAS):c.1456G>A (p.Glu486Lys) rs2062438405
NM_000377.3(WAS):c.1458A>C (p.Glu486Asp) rs975384814
NM_000377.3(WAS):c.1467C>T (p.Asp489=)
NM_000377.3(WAS):c.1471G>A (p.Ala491Thr)
NM_000377.3(WAS):c.1473T>C (p.Ala491=)
NM_000377.3(WAS):c.1476C>A (p.Gly492=)
NM_000377.3(WAS):c.1482AGATGA[1] (p.494ED[1]) rs1569494232
NM_000377.3(WAS):c.1487A>C (p.Glu496Ala) rs2147268585
NM_000377.3(WAS):c.1494T>C (p.Asp498=)
NM_000377.3(WAS):c.149T>A (p.Val50Asp) rs2147262772
NM_000377.3(WAS):c.1506C>T (p.Asp502=)
NM_000377.3(WAS):c.1507_1508dup (p.Ter503CysextTer?) rs2147268618
NM_000377.3(WAS):c.1508G>A (p.Ter503=)
NM_000377.3(WAS):c.1508G>C (p.Ter503Ser)
NM_000377.3(WAS):c.1509A>G (p.Ter503Trp)
NM_000377.3(WAS):c.150T>A (p.Val50=)
NM_000377.3(WAS):c.156G>C (p.Gln52His)
NM_000377.3(WAS):c.159G>A (p.Leu53=)
NM_000377.3(WAS):c.164T>C (p.Leu55Pro) rs2062412293
NM_000377.3(WAS):c.167C>T (p.Ala56Val) rs132630269
NM_000377.3(WAS):c.168G>A (p.Ala56=)
NM_000377.3(WAS):c.172C>A (p.Pro58Thr) rs2062412365
NM_000377.3(WAS):c.176del (p.Pro59fs) rs2147262809
NM_000377.3(WAS):c.189C>T (p.His63=)
NM_000377.3(WAS):c.192G>A (p.Trp64Ter) rs2147262855
NM_000377.3(WAS):c.194C>A (p.Thr65Asn)
NM_000377.3(WAS):c.19_41del (p.Gly7fs)
NM_000377.3(WAS):c.204T>C (p.His68=)
NM_000377.3(WAS):c.210G>A (p.Gly70=) rs886038288
NM_000377.3(WAS):c.222C>T (p.Phe74=)
NM_000377.3(WAS):c.225G>A (p.Val75=)
NM_000377.3(WAS):c.227A>C (p.Lys76Thr) rs782350319
NM_000377.3(WAS):c.230A>G (p.Asp77Gly)
NM_000377.3(WAS):c.238C>T (p.Gln80Ter) rs2062412730
NM_000377.3(WAS):c.243G>A (p.Lys81=)
NM_000377.3(WAS):c.250T>C (p.Phe84Leu) rs2147262951
NM_000377.3(WAS):c.256C>T (p.Arg86Cys) rs2062412810
NM_000377.3(WAS):c.256del (p.Arg86fs)
NM_000377.3(WAS):c.257G>A (p.Arg86His) rs132630268
NM_000377.3(WAS):c.264C>A (p.Tyr88Ter)
NM_000377.3(WAS):c.271C>T (p.Gln91Ter) rs1557006354
NM_000377.3(WAS):c.273+10_273+11dup rs58371799
NM_000377.3(WAS):c.273+11C>A
NM_000377.3(WAS):c.273+11C>G
NM_000377.3(WAS):c.273+11C>T
NM_000377.3(WAS):c.273+11del
NM_000377.3(WAS):c.273+11dup rs58371799
NM_000377.3(WAS):c.273+14C>G
NM_000377.3(WAS):c.273+17C>T
NM_000377.3(WAS):c.273+19A>G
NM_000377.3(WAS):c.273+6C>T
NM_000377.3(WAS):c.273+8_273+9insA
NM_000377.3(WAS):c.273+9C>T
NM_000377.3(WAS):c.273+9_273+11dup
NM_000377.3(WAS):c.273G>A (p.Gln91=)
NM_000377.3(WAS):c.274-20C>A
NM_000377.3(WAS):c.274-9C>G rs2062416001
NM_000377.3(WAS):c.280C>T (p.Arg94Trp)
NM_000377.3(WAS):c.281G>A (p.Arg94Gln)
NM_000377.3(WAS):c.283C>T (p.Leu95=)
NM_000377.3(WAS):c.28C>T (p.Pro10Ser)
NM_000377.3(WAS):c.295del (p.Gln99fs)
NM_000377.3(WAS):c.296A>C (p.Gln99Pro) rs2062416153
NM_000377.3(WAS):c.296A>G (p.Gln99Arg) rs2062416153
NM_000377.3(WAS):c.302T>C (p.Leu101Pro)
NM_000377.3(WAS):c.302_303insC (p.Tyr102fs) rs2062416187
NM_000377.3(WAS):c.303G>A (p.Leu101=)
NM_000377.3(WAS):c.30C>A (p.Pro10=)
NM_000377.3(WAS):c.30C>G (p.Pro10=)
NM_000377.3(WAS):c.30C>T (p.Pro10=)
NM_000377.3(WAS):c.311_312insAA (p.Leu105fs) rs2062416272
NM_000377.3(WAS):c.319T>C (p.Tyr107His)
NM_000377.3(WAS):c.335C>G (p.Pro112Arg)
NM_000377.3(WAS):c.344A>G (p.His115Arg) rs1569493774
NM_000377.3(WAS):c.348C>G (p.Thr116=)
NM_000377.3(WAS):c.355G>T (p.Gly119Ter) rs1602177243
NM_000377.3(WAS):c.35dup (p.Arg13fs) rs2062410421
NM_000377.3(WAS):c.360+13C>T
NM_000377.3(WAS):c.360+1G>A rs1057520700
NM_000377.3(WAS):c.360+6T>C
NM_000377.3(WAS):c.361-10G>A
NM_000377.3(WAS):c.361-12A>G rs781885441
NM_000377.3(WAS):c.361-1G>C
NM_000377.3(WAS):c.361-8A>T
NM_000377.3(WAS):c.369A>G (p.Gln123=)
NM_000377.3(WAS):c.371C>A (p.Ala124Glu) rs782543817
NM_000377.3(WAS):c.372G>A (p.Ala124=)
NM_000377.3(WAS):c.373G>C (p.Gly125Arg) rs2147263882
NM_000377.3(WAS):c.37C>T (p.Arg13Ter) rs193922415
NM_000377.3(WAS):c.382T>C (p.Phe128Leu) rs2147263906
NM_000377.3(WAS):c.383T>C (p.Phe128Ser)
NM_000377.3(WAS):c.383T>G (p.Phe128Cys)
NM_000377.3(WAS):c.385G>C (p.Ala129Pro)
NM_000377.3(WAS):c.388G>A (p.Asp130Asn) rs1557006548
NM_000377.3(WAS):c.38G>A (p.Arg13Gln)
NM_000377.3(WAS):c.396C>T (p.Asp132=)
NM_000377.3(WAS):c.399G>T (p.Glu133Asp)
NM_000377.3(WAS):c.39_40delinsCC (p.Gly14Arg) rs797044476
NM_000377.3(WAS):c.401C>T (p.Ala134Val)
NM_000377.3(WAS):c.404A>C (p.Gln135Pro)
NM_000377.3(WAS):c.405G>A (p.Gln135=)
NM_000377.3(WAS):c.412C>T (p.Arg138Trp) rs1372273668
NM_000377.3(WAS):c.412dup (p.Arg138fs)
NM_000377.3(WAS):c.427_429del (p.Glu143del)
NM_000377.3(WAS):c.436del (p.Gln146fs) rs2062417558
NM_000377.3(WAS):c.438A>G (p.Gln146=)
NM_000377.3(WAS):c.451_452del (p.Arg151fs)
NM_000377.3(WAS):c.455A>G (p.Gln152Arg)
NM_000377.3(WAS):c.463+10C>T
NM_000377.3(WAS):c.463+12A>G
NM_000377.3(WAS):c.463+1G>A
NM_000377.3(WAS):c.464-13C>T
NM_000377.3(WAS):c.464-9T>C
NM_000377.3(WAS):c.466del (p.Arg156fs)
NM_000377.3(WAS):c.467G>C (p.Arg156Thr) rs2062418154
NM_000377.3(WAS):c.46C>G (p.Pro16Ala)
NM_000377.3(WAS):c.470G>A (p.Arg157His) rs369850591
NM_000377.3(WAS):c.470_471del (p.Arg157fs) rs1602177562
NM_000377.3(WAS):c.481C>G (p.Pro161Ala)
NM_000377.3(WAS):c.482C>A (p.Pro161Gln) rs1569493803
NM_000377.3(WAS):c.498C>G (p.Ala166=) rs2147264155
NM_000377.3(WAS):c.49G>T (p.Ala17Ser) rs1569493673
NM_000377.3(WAS):c.505+10C>A
NM_000377.3(WAS):c.505+20T>C
NM_000377.3(WAS):c.505+4A>G
NM_000377.3(WAS):c.506-10A>G
NM_000377.3(WAS):c.506-15A>G
NM_000377.3(WAS):c.50C>T (p.Ala17Val)
NM_000377.3(WAS):c.512G>A (p.Arg171Lys)
NM_000377.3(WAS):c.519G>T (p.Gly173=)
NM_000377.3(WAS):c.51G>A (p.Ala17=)
NM_000377.3(WAS):c.51G>C (p.Ala17=)
NM_000377.3(WAS):c.524C>T (p.Pro175Leu)
NM_000377.3(WAS):c.52G>A (p.Val18Ile) rs1569493676
NM_000377.3(WAS):c.530T>G (p.Leu177Arg)
NM_000377.3(WAS):c.533C>T (p.Pro178Leu) rs2062419034
NM_000377.3(WAS):c.539dup (p.His180fs) rs2147264299
NM_000377.3(WAS):c.540T>C (p.His180=)
NM_000377.3(WAS):c.547G>A (p.Gly183Arg)
NM_000377.3(WAS):c.554A>T (p.Gln185Leu) rs2147264325
NM_000377.3(WAS):c.559+14_559+32del rs782477646
NM_000377.3(WAS):c.559+4C>T
NM_000377.3(WAS):c.559+5G>A rs886039451
NM_000377.3(WAS):c.559+6_559+13dup
NM_000377.3(WAS):c.559+8C>G rs1602177756
NM_000377.3(WAS):c.560-4A>C
NM_000377.3(WAS):c.560-5dup rs782563873
NM_000377.3(WAS):c.560-6C>T
NM_000377.3(WAS):c.565_566delinsAG (p.Pro189Arg) rs1569493862
NM_000377.3(WAS):c.570G>A (p.Val190=)
NM_000377.3(WAS):c.576G>A (p.Pro192=)
NM_000377.3(WAS):c.579C>T (p.Leu193=)
NM_000377.3(WAS):c.585G>T (p.Leu195=)
NM_000377.3(WAS):c.588G>C (p.Gly196=)
NM_000377.3(WAS):c.58C>T (p.Gln20Ter)
NM_000377.3(WAS):c.601G>A (p.Asp201Asn) rs2147264847
NM_000377.3(WAS):c.603C>T (p.Asp201=) rs2062421636
NM_000377.3(WAS):c.606C>A (p.Ile202=)
NM_000377.3(WAS):c.618C>T (p.Asp206=)
NM_000377.3(WAS):c.619_623del (p.Ile207fs)
NM_000377.3(WAS):c.624G>A (p.Thr208=) rs2147264874
NM_000377.3(WAS):c.62A>T (p.Asn21Ile)
NM_000377.3(WAS):c.631C>T (p.Arg211Ter) rs1602178165
NM_000377.3(WAS):c.632G>A (p.Arg211Gln)
NM_000377.3(WAS):c.633A>G (p.Arg211=) rs2147264887
NM_000377.3(WAS):c.638G>A (p.Arg213His)
NM_000377.3(WAS):c.642G>C (p.Gly214=)
NM_000377.3(WAS):c.650C>A (p.Ala217Glu)
NM_000377.3(WAS):c.658C>T (p.Pro220Ser)
NM_000377.3(WAS):c.660_664del (p.Ser221_Pro222insTer) rs1602178184
NM_000377.3(WAS):c.663C>T (p.Ser221=)
NM_000377.3(WAS):c.669T>G (p.Ala223=) rs928562174
NM_000377.3(WAS):c.675G>A (p.Lys225=)
NM_000377.3(WAS):c.687G>T (p.Gly229=)
NM_000377.3(WAS):c.689A>G (p.Lys230Arg) rs1569493872
NM_000377.3(WAS):c.689AGA[2] (p.Lys232del) rs782409127
NM_000377.3(WAS):c.690G>A (p.Lys230=)
NM_000377.3(WAS):c.692del (p.Lys231fs) rs2062422078
NM_000377.3(WAS):c.6T>C (p.Ser2=)
NM_000377.3(WAS):c.701del (p.Ser234fs)
NM_000377.3(WAS):c.706G>A (p.Ala236Thr)
NM_000377.3(WAS):c.70T>C (p.Ser24Pro) rs2062410722
NM_000377.3(WAS):c.723del (p.Ser242fs) rs2147264981
NM_000377.3(WAS):c.726T>G (p.Ser242Arg) rs947162120
NM_000377.3(WAS):c.734+1G>C
NM_000377.3(WAS):c.734+2T>A rs1569493877
NM_000377.3(WAS):c.734+3G>A
NM_000377.3(WAS):c.735-10C>A
NM_000377.3(WAS):c.735-16_735-15insGT
NM_000377.3(WAS):c.735-2A>T
NM_000377.3(WAS):c.735-5C>T
NM_000377.3(WAS):c.744C>T (p.Ser248=)
NM_000377.3(WAS):c.747C>A (p.His249Gln)
NM_000377.3(WAS):c.747C>T (p.His249=)
NM_000377.3(WAS):c.753dup (p.Trp252fs) rs2147265693
NM_000377.3(WAS):c.75C>T (p.Thr25=)
NM_000377.3(WAS):c.765G>C (p.Gln255His)
NM_000377.3(WAS):c.768T>C (p.Asn256=) rs2147265705
NM_000377.3(WAS):c.777+11T>A
NM_000377.3(WAS):c.777+12del
NM_000377.3(WAS):c.777+17T>C
NM_000377.3(WAS):c.777+1G>A rs1057517845
NM_000377.3(WAS):c.777+3_777+6del rs2147265717
NM_000377.3(WAS):c.777+4A>C
NM_000377.3(WAS):c.777+6dup rs2147265723
NM_000377.3(WAS):c.777C>T (p.Asp259=) rs2147265709
NM_000377.3(WAS):c.778-11C>T
NM_000377.3(WAS):c.778-14T>C
NM_000377.3(WAS):c.778-6G>A rs1557007011
NM_000377.3(WAS):c.778-8C>T
NM_000377.3(WAS):c.780G>A (p.Val260=) rs2147265866
NM_000377.3(WAS):c.789C>T (p.Leu263=)
NM_000377.3(WAS):c.790G>A (p.Asp264Asn) rs2147265872
NM_000377.3(WAS):c.795A>C (p.Pro265=)
NM_000377.3(WAS):c.803G>C (p.Arg268Pro)
NM_000377.3(WAS):c.803delinsTT (p.Arg268fs) rs1602178952
NM_000377.3(WAS):c.805A>T (p.Ser269Cys) rs2147265903
NM_000377.3(WAS):c.809T>C (p.Leu270Pro) rs132630274
NM_000377.3(WAS):c.810G>T (p.Leu270=)
NM_000377.3(WAS):c.814T>C (p.Ser272Pro) rs387906716
NM_000377.3(WAS):c.819G>A (p.Arg273=)
NM_000377.3(WAS):c.819G>C (p.Arg273Ser)
NM_000377.3(WAS):c.827_828insGGGCCTTCTCCAGGGCAGGAAT (p.Ile276fs) rs2147265917
NM_000377.3(WAS):c.82C>T (p.Gln28Ter)
NM_000377.3(WAS):c.831C>T (p.Ser277=)
NM_000377.3(WAS):c.834G>A (p.Glu278=)
NM_000377.3(WAS):c.841C>A (p.Leu281Ile) rs2147265956
NM_000377.3(WAS):c.846C>T (p.Thr282=)
NM_000377.3(WAS):c.852C>G (p.Ala284=)
NM_000377.3(WAS):c.858C>T (p.Thr286=) rs2147266003
NM_000377.3(WAS):c.858del (p.Ser287fs) rs1602179000
NM_000377.3(WAS):c.874G>A (p.Asp292Asn) rs2062427019
NM_000377.3(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_000377.3(WAS):c.88_90del (p.His30del)
NM_000377.3(WAS):c.916G>A (p.Glu306Lys)
NM_000377.3(WAS):c.919A>G (p.Met307Val)
NM_000377.3(WAS):c.91G>A (p.Glu31Lys) rs1557006239
NM_000377.3(WAS):c.925C>T (p.Arg309Cys) rs1215457658
NM_000377.3(WAS):c.931+10T>A
NM_000377.3(WAS):c.931+14T>C
NM_000377.3(WAS):c.931+15C>T
NM_000377.3(WAS):c.931+19A>C
NM_000377.3(WAS):c.931+20C>A rs782462041
NM_000377.3(WAS):c.931+20C>T
NM_000377.3(WAS):c.931+5G>C
NM_000377.3(WAS):c.931+7C>A
NM_000377.3(WAS):c.932-12C>A
NM_000377.3(WAS):c.932-12C>T
NM_000377.3(WAS):c.932-15A>G
NM_000377.3(WAS):c.932-18_932-17del
NM_000377.3(WAS):c.932-5C>T
NM_000377.3(WAS):c.932-9C>A
NM_000377.3(WAS):c.932-9_932-8dup
NM_000377.3(WAS):c.942G>A (p.Pro314=)
NM_000377.3(WAS):c.945G>A (p.Pro315=)
NM_000377.3(WAS):c.947C>A (p.Pro316His) rs2147266241
NM_000377.3(WAS):c.959C>T (p.Ser320Phe)
NM_000377.3(WAS):c.961C>T (p.Arg321Ter) rs1557007123
NM_000377.3(WAS):c.964G>T (p.Gly322Ter)
NM_000377.3(WAS):c.969del (p.Asn324fs)
NM_000377.3(WAS):c.97C>G (p.Gln33Glu) rs1569493682
NM_000377.3(WAS):c.983G>A (p.Arg328Gln)
NM_000377.3(WAS):c.987C>T (p.Pro329=)
NM_000377.3(WAS):c.991A>T (p.Ile331Phe) rs2147266334
NM_000377.3(WAS):c.992T>C (p.Ile331Thr)
NM_000377.3(WAS):c.996G>C (p.Val332=)
NM_000377.3(WAS):c.996G>T (p.Val332=)
NM_000377.3(WAS):c.999G>C (p.Gly333=)

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