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.1205C>T (p.Pro402Leu)
|
rs1557007283
|
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.(?_48542223)_(48549573_?)dup
|
|
|
NC_000023.10:g.(?_48542233)_(48542384_?)del
|
|
|
NC_000023.10:g.(?_48542243)_(48549553_?)dup
|
|
|
NC_000023.10:g.(?_48549478)_(48549573_?)dup
|
|
|
NC_000023.11:g.48681722_48688043inv
|
|
|
NM_000377.2(WAS):c.509_510del
|
rs2062418811
|
|
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.104T>C (p.Leu35Pro)
|
|
|
NM_000377.3(WAS):c.1052del (p.Pro351fs)
|
rs2147266405
|
|
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.1058del (p.Pro353fs)
|
rs1557007165
|
|
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.1079dup (p.Pro361fs)
|
|
|
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.1097del (p.Gly366fs)
|
rs587776744
|
|
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.1119dup (p.Ala374fs)
|
|
|
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.1270_1295del (p.Gly424fs)
|
rs2147266901
|
|
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.1273_1318del (p.Leu425fs)
|
|
|
NM_000377.3(WAS):c.1274T>C (p.Leu425Pro)
|
|
|
NM_000377.3(WAS):c.128G>A (p.Cys43Tyr)
|
rs2147262523
|
|
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.1315_1453+204del
|
rs1602179794
|
|
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.1337_1338+9del
|
rs1602179810
|
|
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.1395_1399dup (p.Val467fs)
|
rs2062432605
|
|
NM_000377.3(WAS):c.1405dup (p.Ala469fs)
|
rs2062432653
|
|
NM_000377.3(WAS):c.1417G>A (p.Val473Met)
|
|
|
NM_000377.3(WAS):c.141C>T (p.Ala47=)
|
rs1602176588
|
|
NM_000377.3(WAS):c.1429A>G (p.Arg477Gly)
|
rs2147267330
|
|
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.177del (p.Gly60fs)
|
rs2147262829
|
|
NM_000377.3(WAS):c.189C>T (p.His63=)
|
|
|
NM_000377.3(WAS):c.190T>C (p.Trp64Arg)
|
rs2147262851
|
|
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.1A>T (p.Met1Leu)
|
rs587776742
|
|
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.226_228del (p.Lys76del)
|
|
|
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.257G>C (p.Arg86Pro)
|
rs132630268
|
|
NM_000377.3(WAS):c.257G>T (p.Arg86Leu)
|
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.290G>A (p.Trp97Ter)
|
rs1557006474
|
|
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.310C>T (p.Gln104Ter)
|
rs193922414
|
|
NM_000377.3(WAS):c.311_312insAA (p.Leu105fs)
|
rs2062416272
|
|
NM_000377.3(WAS):c.315dup (p.Val106fs)
|
|
|
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+1G>C
|
rs1057520700
|
|
NM_000377.3(WAS):c.360+5G>A
|
|
|
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.374G>A (p.Gly125Glu)
|
rs1557006534
|
|
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.389ACGAGG[3] (p.130DE[3])
|
rs587776743
|
|
NM_000377.3(WAS):c.38G>A (p.Arg13Gln)
|
|
|
NM_000377.3(WAS):c.396C>T (p.Asp132=)
|
|
|
NM_000377.3(WAS):c.397G>A (p.Glu133Lys)
|
rs2062417344
|
|
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.445A>T (p.Asn149Tyr)
|
rs2147263992
|
|
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.553C>T (p.Gln185Ter)
|
rs1557006672
|
|
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+2T>G
|
rs1602177733
|
|
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.560-1G>A
|
rs1602178087
|
|
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.629C>G (p.Ser210Ter)
|
|
|
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.671A>G (p.Asp224Gly)
|
|
|
NM_000377.3(WAS):c.675G>A (p.Lys225=)
|
|
|
NM_000377.3(WAS):c.680G>A (p.Arg227His)
|
|
|
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.724del (p.Ser242fs)
|
rs2147264989
|
|
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.734+5G>A
|
rs1602178267
|
|
NM_000377.3(WAS):c.735-10C>A
|
|
|
NM_000377.3(WAS):c.735-16_735-15insGT
|
|
|
NM_000377.3(WAS):c.735-2A>G
|
rs1602178800
|
|
NM_000377.3(WAS):c.735-2A>T
|
|
|
NM_000377.3(WAS):c.735-5C>T
|
|
|
NM_000377.3(WAS):c.73_74del (p.Thr25fs)
|
rs1602176299
|
|
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.763dup (p.Gln255fs)
|
rs193922416
|
|
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.778-1G>A
|
rs2147265861
|
|
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.802del (p.Arg268fs)
|
rs2147265894
|
|
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.832G>T (p.Glu278Ter)
|
|
|
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.852del (p.Glu285fs)
|
rs1557007035
|
|
NM_000377.3(WAS):c.858C>T (p.Thr286=)
|
rs2147266003
|
|
NM_000377.3(WAS):c.858del (p.Ser287fs)
|
rs1602179000
|
|
NM_000377.3(WAS):c.869T>C (p.Ile290Thr)
|
rs2062426981
|
|
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.963AGG[1] (p.Gly323del)
|
|
|
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.984del (p.Pro330fs)
|
|
|
NM_000377.3(WAS):c.987C>T (p.Pro329=)
|
|
|
NM_000377.3(WAS):c.990del (p.Ile331fs)
|
rs2147266326
|
|
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=)
|
|
|
WAS, 15,800-BP DEL
|
|
|