NM_000046.4(ARSB):c.-265G>A
|
rs72764913
|
0.02482
|
NM_000046.4(ARSB):c.-246C>T
|
rs180784385
|
0.00598
|
NM_000046.5(ARSB):c.*2708G>A
|
rs141667208
|
0.00581
|
NM_000046.5(ARSB):c.*1635G>A
|
rs35597782
|
0.00552
|
NM_000046.5(ARSB):c.*2408A>G
|
rs13354324
|
0.00491
|
NM_000046.4(ARSB):c.-239T>A
|
rs115264286
|
0.00346
|
NM_000046.5(ARSB):c.*2013G>A
|
rs113059935
|
0.00334
|
NM_000046.5(ARSB):c.*1146G>A
|
rs141001994
|
0.00333
|
NM_000046.5(ARSB):c.*2707C>T
|
rs183918206
|
0.00285
|
NM_000046.5(ARSB):c.*1153C>A
|
rs116753785
|
0.00278
|
NM_000046.5(ARSB):c.*2608G>A
|
rs569254528
|
0.00248
|
NM_000046.5(ARSB):c.317G>A (p.Arg106His)
|
rs150087888
|
0.00230
|
NM_000046.5(ARSB):c.*994C>A
|
rs190632756
|
0.00186
|
NM_000046.4(ARSB):c.-331G>A
|
rs538223324
|
0.00144
|
NM_000046.3(ARSB):c.-726C>T
|
rs116419942
|
0.00114
|
NM_000046.5(ARSB):c.82C>T (p.Leu28=)
|
rs138587718
|
0.00101
|
NM_000046.5(ARSB):c.1078C>T (p.Leu360=)
|
rs140923667
|
0.00088
|
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser)
|
rs144222167
|
0.00078
|
NM_000046.5(ARSB):c.*1420G>A
|
rs79166190
|
0.00073
|
NM_000046.5(ARSB):c.*965A>G
|
rs144818735
|
0.00070
|
NM_000046.5(ARSB):c.1337-3T>A
|
rs183651028
|
0.00066
|
NM_000046.5(ARSB):c.*3047T>C
|
rs560253823
|
0.00052
|
NM_000046.5(ARSB):c.88C>T (p.Leu30=)
|
rs766870239
|
0.00051
|
NM_000046.5(ARSB):c.*810C>T
|
rs777160780
|
0.00048
|
NM_000046.5(ARSB):c.*2251G>A
|
rs532513960
|
0.00046
|
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr)
|
rs146704780
|
0.00045
|
NM_000046.3(ARSB):c.-590A>T
|
rs138175832
|
0.00040
|
NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn)
|
rs200040980
|
0.00039
|
NM_000046.5(ARSB):c.*1610G>A
|
rs867100156
|
0.00029
|
NM_000046.5(ARSB):c.*166G>A
|
rs181321349
|
0.00029
|
NM_000046.5(ARSB):c.*212A>G
|
rs561718720
|
0.00028
|
NM_000046.5(ARSB):c.*2559G>A
|
rs975658724
|
0.00028
|
NM_000046.5(ARSB):c.*1951A>G
|
rs149854678
|
0.00027
|
NM_000046.5(ARSB):c.*933C>T
|
rs924998163
|
0.00019
|
NM_000046.5(ARSB):c.*1594C>A
|
rs188998831
|
0.00018
|
NM_000046.5(ARSB):c.*1729del
|
rs369595123
|
0.00018
|
NM_000046.5(ARSB):c.-15C>T
|
rs779990830
|
0.00016
|
NM_000046.5(ARSB):c.1159C>T (p.Pro387Ser)
|
rs145553034
|
0.00016
|
NM_000046.5(ARSB):c.1546G>A (p.Ala516Thr)
|
rs201234153
|
0.00016
|
NM_000046.5(ARSB):c.312+4C>T
|
rs770927433
|
0.00016
|
NM_000046.5(ARSB):c.*2571A>G
|
rs963944156
|
0.00013
|
NM_000046.5(ARSB):c.1533C>T (p.Pro511=)
|
rs528157833
|
0.00013
|
NM_000046.3(ARSB):c.-848C>T
|
rs571164401
|
0.00012
|
NM_000046.4(ARSB):c.-187G>A
|
rs529476939
|
0.00011
|
NM_000046.5(ARSB):c.*1373A>G
|
rs146584784
|
0.00010
|
NM_000046.5(ARSB):c.393G>T (p.Gln131His)
|
rs139174369
|
0.00010
|
NM_000046.5(ARSB):c.914C>T (p.Thr305Ile)
|
rs199931771
|
0.00010
|
NM_000046.5(ARSB):c.*2672A>G
|
rs886060780
|
0.00009
|
NM_000046.5(ARSB):c.1122C>T (p.Phe374=)
|
rs149886659
|
0.00009
|
NM_000046.5(ARSB):c.1258C>G (p.Pro420Ala)
|
rs769542268
|
0.00009
|
NM_000046.5(ARSB):c.181G>A (p.Gly61Ser)
|
rs375647920
|
0.00009
|
NM_000046.5(ARSB):c.667A>G (p.Ile223Val)
|
rs367650121
|
0.00007
|
NM_000046.5(ARSB):c.*1513C>T
|
rs886060786
|
0.00006
|
NM_000046.5(ARSB):c.*2287C>T
|
rs886060782
|
0.00006
|
NM_000046.5(ARSB):c.*2684G>A
|
rs188859845
|
0.00006
|
NM_000046.5(ARSB):c.*635C>G
|
rs534480571
|
0.00006
|
NM_000046.5(ARSB):c.1534G>A (p.Val512Met)
|
rs201928777
|
0.00006
|
NM_000046.5(ARSB):c.550A>G (p.Ile184Val)
|
rs371812342
|
0.00006
|
NM_000046.5(ARSB):c.647C>T (p.Thr216Ile)
|
rs200364654
|
0.00006
|
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly)
|
rs201101343
|
0.00005
|
NM_000046.5(ARSB):c.475C>T (p.Arg159Cys)
|
rs202134230
|
0.00005
|
NM_000046.5(ARSB):c.*384T>A
|
rs970465323
|
0.00004
|
NM_000046.5(ARSB):c.105G>A (p.Pro35=)
|
rs1423589060
|
0.00004
|
NM_000046.5(ARSB):c.1086G>A (p.Arg362=)
|
rs144879531
|
0.00004
|
NM_000046.5(ARSB):c.1178A>C (p.His393Pro)
|
rs118203944
|
0.00004
|
NM_000046.5(ARSB):c.1483G>A (p.Val495Ile)
|
rs138643812
|
0.00004
|
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln)
|
rs776814144
|
0.00004
|
NM_000046.5(ARSB):c.510G>C (p.Leu170=)
|
rs768312895
|
0.00004
|
NM_000046.5(ARSB):c.704A>G (p.Tyr235Cys)
|
rs745804096
|
0.00004
|
NM_000046.5(ARSB):c.975C>T (p.Gly325=)
|
rs75766476
|
0.00004
|
NM_000046.5(ARSB):c.*1326G>T
|
rs974942925
|
0.00003
|
NM_000046.5(ARSB):c.-19G>A
|
rs575001282
|
0.00003
|
NM_000046.5(ARSB):c.1502G>A (p.Arg501His)
|
rs190643827
|
0.00003
|
NM_000046.5(ARSB):c.215T>C (p.Leu72Pro)
|
rs397514441
|
0.00003
|
NM_000046.5(ARSB):c.29C>T (p.Pro10Leu)
|
rs757310157
|
0.00003
|
NM_000046.5(ARSB):c.401A>G (p.Lys134Arg)
|
rs371631385
|
0.00003
|
NM_000046.5(ARSB):c.43C>G (p.Pro15Ala)
|
rs778159305
|
0.00003
|
NM_000046.5(ARSB):c.729G>A (p.Glu243=)
|
rs144029271
|
0.00003
|
NM_000046.5(ARSB):c.*2164T>A
|
rs950647700
|
0.00002
|
NM_000046.5(ARSB):c.*2526T>A
|
rs1174387311
|
0.00002
|
NM_000046.5(ARSB):c.*3163T>C
|
rs886060778
|
0.00002
|
NM_000046.5(ARSB):c.*618C>T
|
rs757857543
|
0.00002
|
NM_000046.5(ARSB):c.*990C>T
|
rs886060793
|
0.00002
|
NM_000046.5(ARSB):c.1198G>T (p.Val400Leu)
|
rs570630772
|
0.00002
|
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)
|
rs118203941
|
0.00002
|
NM_000046.5(ARSB):c.1231G>A (p.Ala411Thr)
|
rs886060797
|
0.00002
|
NM_000046.5(ARSB):c.1387C>A (p.Pro463Thr)
|
rs748137130
|
0.00002
|
NM_000046.5(ARSB):c.176A>G (p.Asp59Gly)
|
rs1179935748
|
0.00002
|
NM_000046.5(ARSB):c.246G>A (p.Leu82=)
|
rs1035210606
|
0.00002
|
NM_000046.5(ARSB):c.305G>A (p.Arg102His)
|
rs759356342
|
0.00002
|
NM_000046.3(ARSB):c.-1058A>G
|
rs886060802
|
0.00001
|
NM_000046.4(ARSB):c.-301G>A
|
rs886060799
|
0.00001
|
NM_000046.4(ARSB):c.-507T>C
|
rs886060800
|
0.00001
|
NM_000046.5(ARSB):c.*1169T>C
|
rs886060791
|
0.00001
|
NM_000046.5(ARSB):c.*2680C>T
|
rs1043901041
|
0.00001
|
NM_000046.5(ARSB):c.*2784C>A
|
rs1390008938
|
0.00001
|
NM_000046.5(ARSB):c.*2831T>A
|
rs1225906488
|
0.00001
|
NM_000046.5(ARSB):c.*3152A>G
|
rs886060779
|
0.00001
|
NM_000046.5(ARSB):c.1034G>A (p.Arg345Gln)
|
rs148067062
|
0.00001
|
NM_000046.5(ARSB):c.1195T>C (p.Phe399Leu)
|
rs762979755
|
0.00001
|
NM_000046.5(ARSB):c.1224C>T (p.Asn408=)
|
rs762454192
|
0.00001
|
NM_000046.5(ARSB):c.1232C>T (p.Ala411Val)
|
rs554258996
|
0.00001
|
NM_000046.5(ARSB):c.124A>G (p.Ser42Gly)
|
rs1250729156
|
0.00001
|
NM_000046.5(ARSB):c.1340G>C (p.Cys447Ser)
|
rs1465993279
|
0.00001
|
NM_000046.5(ARSB):c.1397A>G (p.Asp466Gly)
|
rs745885140
|
0.00001
|
NM_000046.5(ARSB):c.1435C>T (p.Arg479Trp)
|
rs758641798
|
0.00001
|
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp)
|
rs1064793027
|
0.00001
|
NM_000046.5(ARSB):c.1453C>G (p.His485Asp)
|
rs751829762
|
0.00001
|
NM_000046.5(ARSB):c.1468G>A (p.Glu490Lys)
|
rs1226339111
|
0.00001
|
NM_000046.5(ARSB):c.178G>A (p.Val60Ile)
|
rs1438070050
|
0.00001
|
NM_000046.5(ARSB):c.196C>T (p.Arg66Cys)
|
rs951682570
|
0.00001
|
NM_000046.5(ARSB):c.236G>A (p.Gly79Glu)
|
rs1271212818
|
0.00001
|
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr)
|
rs1247117898
|
0.00001
|
NM_000046.5(ARSB):c.275C>T (p.Thr92Met)
|
rs751010538
|
0.00001
|
NM_000046.5(ARSB):c.293T>C (p.Leu98Pro)
|
rs1554032090
|
0.00001
|
NM_000046.5(ARSB):c.312G>C (p.Gln104His)
|
rs1478202079
|
0.00001
|
NM_000046.5(ARSB):c.499G>A (p.Gly167Arg)
|
rs1554087999
|
0.00001
|
NM_000046.5(ARSB):c.539G>A (p.Arg180His)
|
rs139788949
|
0.00001
|
NM_000046.5(ARSB):c.572G>A (p.Arg191Gln)
|
rs760875018
|
0.00001
|
NM_000046.5(ARSB):c.617A>G (p.Tyr206Cys)
|
rs775204710
|
0.00001
|
NM_000046.5(ARSB):c.723G>A (p.Val241=)
|
rs199858121
|
0.00001
|
NM_000046.5(ARSB):c.74C>A (p.Pro25Gln)
|
rs576541936
|
0.00001
|
NM_000046.5(ARSB):c.784A>G (p.Asn262Asp)
|
rs1561524845
|
0.00001
|
NM_000046.5(ARSB):c.900T>A (p.Asp300Glu)
|
rs1280123243
|
0.00001
|
NC_000005.9:g.(?_78135159)_(78281071_?)dup
|
|
|
NM_000046.3(ARSB):c.-1015A>G
|
rs886060801
|
|
NM_000046.3(ARSB):c.-855dup
|
rs574333268
|
|
NM_000046.4(ARSB):c.-112G>C
|
rs886060798
|
|
NM_000046.4(ARSB):c.-276T>C
|
rs534158632
|
|
NM_000046.5(ARSB):c.*1147G>A
|
rs886060792
|
|
NM_000046.5(ARSB):c.*1276C>G
|
rs886060790
|
|
NM_000046.5(ARSB):c.*1286C>T
|
rs886060789
|
|
NM_000046.5(ARSB):c.*1360T>A
|
rs886060788
|
|
NM_000046.5(ARSB):c.*1372dup
|
rs551749278
|
|
NM_000046.5(ARSB):c.*1387C>T
|
rs555581069
|
|
NM_000046.5(ARSB):c.*1499C>G
|
rs886060787
|
|
NM_000046.5(ARSB):c.*1539dup
|
rs886060785
|
|
NM_000046.5(ARSB):c.*1899dup
|
rs886060784
|
|
NM_000046.5(ARSB):c.*1989C>T
|
rs878926507
|
|
NM_000046.5(ARSB):c.*2080G>A
|
rs886060783
|
|
NM_000046.5(ARSB):c.*2092A>T
|
rs1748827572
|
|
NM_000046.5(ARSB):c.*2155C>T
|
rs1748825888
|
|
NM_000046.5(ARSB):c.*2158C>T
|
rs1463642631
|
|
NM_000046.5(ARSB):c.*2524A>T
|
rs868066675
|
|
NM_000046.5(ARSB):c.*2525A>T
|
rs867923783
|
|
NM_000046.5(ARSB):c.*2543_*2545dup
|
rs397976147
|
|
NM_000046.5(ARSB):c.*2578A>T
|
rs548093605
|
|
NM_000046.5(ARSB):c.*2593T>G
|
rs1748811214
|
|
NM_000046.5(ARSB):c.*2637_*2639dup
|
rs886060781
|
|
NM_000046.5(ARSB):c.*3147G>A
|
rs1425606069
|
|
NM_000046.5(ARSB):c.*3174T>G
|
rs886060777
|
|
NM_000046.5(ARSB):c.*3181T>A
|
rs11750774
|
|
NM_000046.5(ARSB):c.*340A>C
|
rs1234619423
|
|
NM_000046.5(ARSB):c.*420A>G
|
rs1748876744
|
|
NM_000046.5(ARSB):c.*608G>A
|
rs886060796
|
|
NM_000046.5(ARSB):c.*619G>T
|
rs886060795
|
|
NM_000046.5(ARSB):c.*793T>A
|
rs886060794
|
|
NM_000046.5(ARSB):c.*922C>T
|
rs201284766
|
|
NM_000046.5(ARSB):c.1001G>T (p.Ser334Ile)
|
rs1554079311
|
|
NM_000046.5(ARSB):c.1024G>A (p.Val342Met)
|
|
|
NM_000046.5(ARSB):c.1028A>T (p.Lys343Met)
|
rs1554079305
|
|
NM_000046.5(ARSB):c.1032C>G (p.Asn344Lys)
|
rs1554079304
|
|
NM_000046.5(ARSB):c.1033C>T (p.Arg345Trp)
|
|
|
NM_000046.5(ARSB):c.1046A>T (p.His349Leu)
|
|
|
NM_000046.5(ARSB):c.1057T>A (p.Trp353Arg)
|
rs1554079297
|
|
NM_000046.5(ARSB):c.1090C>T (p.His364Tyr)
|
rs1457848169
|
|
NM_000046.5(ARSB):c.1115A>G (p.Asp372Gly)
|
rs1554079277
|
|
NM_000046.5(ARSB):c.1143-22011C>A
|
|
|
NM_000046.5(ARSB):c.1163G>C (p.Arg388Thr)
|
rs1554074134
|
|
NM_000046.5(ARSB):c.1178A>G (p.His393Arg)
|
rs118203944
|
|
NM_000046.5(ARSB):c.1181A>G (p.Asn394Ser)
|
|
|
NM_000046.5(ARSB):c.1190C>T (p.Pro397Leu)
|
|
|
NM_000046.5(ARSB):c.11G>T (p.Arg4Leu)
|
|
|
NM_000046.5(ARSB):c.1208C>T (p.Ser403Leu)
|
|
|
NM_000046.5(ARSB):c.1211C>T (p.Pro404Leu)
|
|
|
NM_000046.5(ARSB):c.1213+5G>A
|
rs1554074119
|
|
NM_000046.5(ARSB):c.1214-15A>T
|
rs1353542088
|
|
NM_000046.5(ARSB):c.1247A>T (p.Asp416Val)
|
|
|
NM_000046.5(ARSB):c.1250C>T (p.Ser417Phe)
|
|
|
NM_000046.5(ARSB):c.1288C>A (p.His430Asn)
|
rs1554069785
|
|
NM_000046.5(ARSB):c.1291G>C (p.Ala431Pro)
|
|
|
NM_000046.5(ARSB):c.1292C>A (p.Ala431Asp)
|
rs1748937951
|
|
NM_000046.5(ARSB):c.1301G>T (p.Arg434Ile)
|
rs1252936336
|
|
NM_000046.5(ARSB):c.1315A>G (p.Lys439Glu)
|
rs1554069778
|
|
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)
|
rs1057520739
|
|
NM_000046.5(ARSB):c.1334C>T (p.Pro445Leu)
|
rs1554069775
|
|
NM_000046.5(ARSB):c.1336+4G>T
|
|
|
NM_000046.5(ARSB):c.1336G>A (p.Gly446Ser)
|
rs1554069772
|
|
NM_000046.5(ARSB):c.1336G>C (p.Gly446Arg)
|
rs1554069772
|
|
NM_000046.5(ARSB):c.1340G>T (p.Cys447Phe)
|
rs1465993279
|
|
NM_000046.5(ARSB):c.1342G>A (p.Gly448Ser)
|
|
|
NM_000046.5(ARSB):c.1349G>T (p.Trp450Leu)
|
rs1554069685
|
|
NM_000046.5(ARSB):c.136C>T (p.His46Tyr)
|
|
|
NM_000046.5(ARSB):c.1442C>T (p.Pro481Leu)
|
rs906245021
|
|
NM_000046.5(ARSB):c.1457A>T (p.Asp486Val)
|
rs1554069670
|
|
NM_000046.5(ARSB):c.1466G>A (p.Arg489Lys)
|
rs1748894464
|
|
NM_000046.5(ARSB):c.1491G>C (p.Lys497Asn)
|
|
|
NM_000046.5(ARSB):c.1499C>T (p.Ser500Phe)
|
|
|
NM_000046.5(ARSB):c.1515C>T (p.Tyr505=)
|
rs1554069663
|
|
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs)
|
rs1310996698
|
|
NM_000046.5(ARSB):c.1554C>A (p.Asp518Glu)
|
rs1233108073
|
|
NM_000046.5(ARSB):c.1558C>T (p.Arg520Cys)
|
|
|
NM_000046.5(ARSB):c.1562G>A (p.Cys521Tyr)
|
rs1554069661
|
|
NM_000046.5(ARSB):c.1582_1596del (p.Val528_Trp532del)
|
rs1554069658
|
|
NM_000046.5(ARSB):c.1592C>G (p.Pro531Arg)
|
rs1554069659
|
|
NM_000046.5(ARSB):c.1600T>C (p.Ter534Gln)
|
rs1554069657
|
|
NM_000046.5(ARSB):c.1601A>G (p.Ter534Trp)
|
rs1554069655
|
|
NM_000046.5(ARSB):c.167G>A (p.Gly56Asp)
|
rs1554032211
|
|
NM_000046.5(ARSB):c.171G>C (p.Trp57Cys)
|
rs1554032205
|
|
NM_000046.5(ARSB):c.175G>A (p.Asp59Asn)
|
rs1236509896
|
|
NM_000046.5(ARSB):c.194C>T (p.Ser65Phe)
|
rs1233331806
|
|
NM_000046.5(ARSB):c.206C>T (p.Thr69Met)
|
rs1554032175
|
|
NM_000046.5(ARSB):c.215T>A (p.Leu72Gln)
|
rs397514441
|
|
NM_000046.5(ARSB):c.241C>T (p.Leu81Phe)
|
|
|
NM_000046.5(ARSB):c.260C>G (p.Thr87Arg)
|
rs1413561387
|
|
NM_000046.5(ARSB):c.264G>C (p.Gln88His)
|
rs750947605
|
|
NM_000046.5(ARSB):c.271T>C (p.Cys91Arg)
|
rs1554032113
|
|
NM_000046.5(ARSB):c.271T>G (p.Cys91Gly)
|
|
|
NM_000046.5(ARSB):c.272G>A (p.Cys91Tyr)
|
rs1554032112
|
|
NM_000046.5(ARSB):c.275C>A (p.Thr92Lys)
|
rs751010538
|
|
NM_000046.5(ARSB):c.277C>T (p.Pro93Ser)
|
rs1554032104
|
|
NM_000046.5(ARSB):c.278C>T (p.Pro93Leu)
|
rs1339096448
|
|
NM_000046.5(ARSB):c.288C>G (p.Ser96Arg)
|
rs1554032095
|
|
NM_000046.5(ARSB):c.291G>C (p.Gln97His)
|
|
|
NM_000046.5(ARSB):c.302G>A (p.Gly101Asp)
|
rs2112580877
|
|
NM_000046.5(ARSB):c.323G>T (p.Gly108Val)
|
rs768802200
|
|
NM_000046.5(ARSB):c.332A>C (p.His111Pro)
|
rs1554088096
|
|
NM_000046.5(ARSB):c.347C>A (p.Pro116His)
|
rs775780931
|
|
NM_000046.5(ARSB):c.34G>C (p.Gly12Arg)
|
|
|
NM_000046.5(ARSB):c.356_358del (p.Pro119_Ser120delinsArg)
|
rs1554088087
|
|
NM_000046.5(ARSB):c.361T>C (p.Cys121Arg)
|
rs1554088083
|
|
NM_000046.5(ARSB):c.384_386del (p.Leu129del)
|
rs1180227844
|
|
NM_000046.5(ARSB):c.389C>T (p.Pro130Leu)
|
rs1435155976
|
|
NM_000046.5(ARSB):c.410G>A (p.Gly137Asp)
|
|
|
NM_000046.5(ARSB):c.410G>T (p.Gly137Val)
|
rs118203938
|
|
NM_000046.5(ARSB):c.413A>G (p.Tyr138Cys)
|
rs1554088061
|
|
NM_000046.5(ARSB):c.418A>C (p.Thr140Pro)
|
rs1554088058
|
|
NM_000046.5(ARSB):c.426G>C (p.Met142Ile)
|
rs1554088053
|
|
NM_000046.5(ARSB):c.436T>C (p.Trp146Arg)
|
rs1554088037
|
|
NM_000046.5(ARSB):c.437G>C (p.Trp146Ser)
|
rs1554088034
|
|
NM_000046.5(ARSB):c.437G>T (p.Trp146Leu)
|
rs1554088034
|
|
NM_000046.5(ARSB):c.440A>C (p.His147Pro)
|
rs1554088030
|
|
NM_000046.5(ARSB):c.448A>G (p.Met150Val)
|
|
|
NM_000046.5(ARSB):c.44C>T (p.Pro15Leu)
|
|
|
NM_000046.5(ARSB):c.464G>A (p.Cys155Tyr)
|
rs1554088019
|
|
NM_000046.5(ARSB):c.46C>G (p.Arg16Gly)
|
|
|
NM_000046.5(ARSB):c.489_491del (p.Thr164del)
|
rs1214445569
|
|
NM_000046.5(ARSB):c.499+5T>C
|
|
|
NM_000046.5(ARSB):c.499+6G>A
|
|
|
NM_000046.5(ARSB):c.499G>C (p.Gly167Arg)
|
|
|
NM_000046.5(ARSB):c.523T>C (p.Tyr175His)
|
|
|
NM_000046.5(ARSB):c.523T>G (p.Tyr175Asp)
|
rs748739839
|
|
NM_000046.5(ARSB):c.532_533inv (p.His178Cys)
|
|
|
NM_000046.5(ARSB):c.538C>T (p.Arg180Cys)
|
|
|
NM_000046.5(ARSB):c.556G>A (p.Ala186Thr)
|
|
|
NM_000046.5(ARSB):c.593A>G (p.Asp198Gly)
|
rs1406969234
|
|
NM_000046.5(ARSB):c.5G>A (p.Gly2Asp)
|
|
|
NM_000046.5(ARSB):c.625A>T (p.Met209Leu)
|
|
|
NM_000046.5(ARSB):c.635C>T (p.Thr212Ile)
|
rs1554087409
|
|
NM_000046.5(ARSB):c.666C>T (p.Leu222=)
|
rs1752122294
|
|
NM_000046.5(ARSB):c.680C>A (p.Pro227Gln)
|
|
|
NM_000046.5(ARSB):c.683C>T (p.Pro228Leu)
|
|
|
NM_000046.5(ARSB):c.689A>G (p.Lys230Arg)
|
|
|
NM_000046.5(ARSB):c.707T>C (p.Leu236Pro)
|
rs118203940
|
|
NM_000046.5(ARSB):c.713T>A (p.Leu238His)
|
|
|
NM_000046.5(ARSB):c.716A>G (p.Gln239Arg)
|
rs1554086431
|
|
NM_000046.5(ARSB):c.719C>T (p.Ser240Phe)
|
rs1554086430
|
|
NM_000046.5(ARSB):c.725A>C (p.His242Pro)
|
rs1554086428
|
|
NM_000046.5(ARSB):c.729_730delinsTT (p.Glu243_Pro244delinsAspSer)
|
rs2112484265
|
|
NM_000046.5(ARSB):c.755T>G (p.Leu252Trp)
|
|
|
NM_000046.5(ARSB):c.76CTG[6] (p.Leu32_Ala33insLeu)
|
|
|
NM_000046.5(ARSB):c.76CTG[7] (p.Leu32_Ala33insLeuLeu)
|
|
|
NM_000046.5(ARSB):c.790C>A (p.His264Asn)
|
rs558569339
|
|
NM_000046.5(ARSB):c.797A>C (p.Tyr266Ser)
|
rs1554086402
|
|
NM_000046.5(ARSB):c.7C>T (p.Pro3Ser)
|
rs887343928
|
|
NM_000046.5(ARSB):c.803G>T (p.Gly268Val)
|
rs1554086400
|
|
NM_000046.5(ARSB):c.806T>C (p.Met269Thr)
|
|
|
NM_000046.5(ARSB):c.838G>A (p.Val280Ile)
|
|
|
NM_000046.5(ARSB):c.847G>C (p.Ala283Pro)
|
|
|
NM_000046.5(ARSB):c.873C>A (p.Asn291Lys)
|
rs2112483415
|
|
NM_000046.5(ARSB):c.886A>C (p.Ile296Leu)
|
rs1440962115
|
|
NM_000046.5(ARSB):c.891T>G (p.Phe297Leu)
|
|
|
NM_000046.5(ARSB):c.896C>T (p.Thr299Ile)
|
rs2112483313
|
|
NM_000046.5(ARSB):c.900T>G (p.Asp300Glu)
|
rs1280123243
|
|
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg)
|
rs779378413
|
|
NM_000046.5(ARSB):c.904_905inv (p.Gly302Pro)
|
|
|
NM_000046.5(ARSB):c.917T>C (p.Leu306Ser)
|
|
|
NM_000046.5(ARSB):c.91TTG[1] (p.Leu32del)
|
rs535493472
|
|
NM_000046.5(ARSB):c.922G>A (p.Gly308Arg)
|
rs1554079335
|
|
NM_000046.5(ARSB):c.923G>A (p.Gly308Glu)
|
rs1554079333
|
|
NM_000046.5(ARSB):c.925G>A (p.Gly309Ser)
|
|
|
NM_000046.5(ARSB):c.928A>G (p.Asn310Asp)
|
rs1402584432
|
|
NM_000046.5(ARSB):c.92T>C (p.Leu31Ser)
|
|
|
NM_000046.5(ARSB):c.937C>T (p.Pro313Ser)
|
rs749989641
|
|
NM_000046.5(ARSB):c.944G>C (p.Arg315Pro)
|
rs727503809
|
|
NM_000046.5(ARSB):c.951A>G (p.Arg317=)
|
rs1318270777
|
|
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg)
|
rs762614315
|
|
NM_000046.5(ARSB):c.976G>A (p.Val326Ile)
|
|
|
NM_000046.5(ARSB):c.980G>A (p.Arg327Gln)
|
|
|