ClinVar Miner

List of variants studied for Mucopolysaccharidosis type 6

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ClinVar version:
Total variants: 872
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HGVS dbSNP gnomAD frequency
NM_000046.3(ARSB):c.-840_-839dup rs1255033691 0.98775
NM_000046.4(ARSB):c.-302A>G rs163127 0.94480
NM_000046.3(ARSB):c.-1178A>G rs163126 0.84841
NM_000046.5(ARSB):c.*1302G>T rs754566 0.53627
NM_000046.5(ARSB):c.*2022T>G rs7704939 0.43898
NM_000046.5(ARSB):c.1143-27A>C rs25415 0.35324
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757 0.34419
NM_000046.5(ARSB):c.313-26T>C rs3733895 0.30072
NM_000046.5(ARSB):c.*1257A>C rs754567 0.28549
NM_000046.5(ARSB):c.1191G>A (p.Pro397=) rs25413 0.27041
NM_000046.3(ARSB):c.-564A>G rs59558132 0.16591
NM_000046.3(ARSB):c.-958A>G rs57586329 0.15967
NM_000046.3(ARSB):c.-906C>G rs62377914 0.14171
NM_000046.5(ARSB):c.691-22T>C rs6870443 0.13972
NM_000046.5(ARSB):c.1126G>A (p.Val376Met) rs1071598 0.12316
NM_000046.5(ARSB):c.*3181T>G rs11750774 0.09828
NM_000046.3(ARSB):c.*3195A>G rs16875887 0.07068
NM_000046.5(ARSB):c.*1469C>T rs55710452 0.06599
NM_000046.5(ARSB):c.972A>G (p.Gly324=) rs72762973 0.05483
NM_000046.5(ARSB):c.1362G>A (p.Pro454=) rs35757003 0.04998
NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn) rs25414 0.03947
NM_000046.5(ARSB):c.*60G>A rs2173012 0.03683
NM_000046.5(ARSB):c.*202A>G rs73770019 0.03289
NM_000046.4(ARSB):c.-265G>A rs72764913 0.02482
NM_000046.5(ARSB):c.1446A>G (p.Glu482=) rs35714924 0.01223
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_000046.5(ARSB):c.*2859T>C rs116826065 0.00988
NM_000046.5(ARSB):c.*2654A>G rs147170505 0.00961
NM_000046.5(ARSB):c.1068A>T (p.Thr356=) rs16876029 0.00947
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.456G>T (p.Arg152=) rs140747158 0.00106
NM_000046.5(ARSB):c.903C>T (p.Asn301=) rs147495977 0.00106
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.1048A>G (p.Ile350Val) rs79970603 0.00082
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.*2243A>G rs145585943 0.00069
NM_000046.5(ARSB):c.1337-3T>A rs183651028 0.00066
NM_000046.5(ARSB):c.570A>G (p.Thr190=) rs148138805 0.00061
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.185T>A (p.Phe62Tyr) rs779228581 0.00022
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.629A>G (p.Tyr210Cys) rs118203943 0.00017
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.750A>G (p.Glu250=) rs200985327 0.00015
NM_000046.5(ARSB):c.*2571A>G rs963944156 0.00013
NM_000046.5(ARSB):c.1533C>T (p.Pro511=) rs528157833 0.00013
NM_000046.5(ARSB):c.647C>T (p.Thr216Ile) rs200364654 0.00013
NM_000046.3(ARSB):c.-848C>T rs571164401 0.00012
NM_000046.5(ARSB):c.1197C>T (p.Phe399=) rs200793396 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.204C>A (p.Arg68=) rs559187375 0.00010
NM_000046.5(ARSB):c.240G>A (p.Val80=) rs368338486 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.312+8G>C rs774555967 0.00009
NM_000046.5(ARSB):c.1152C>T (p.Ser384=) rs747829428 0.00008
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp) rs991104525 0.00008
NM_000046.5(ARSB):c.918G>A (p.Leu306=) rs755631948 0.00008
NM_000046.5(ARSB):c.667A>G (p.Ile223Val) rs367650121 0.00007
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe) rs121918181 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.1155A>G (p.Pro385=) rs778672342 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.1336+7del rs748129076 0.00005
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.54G>A (p.Leu18=) rs142781021 0.00005
NM_000046.5(ARSB):c.658A>G (p.Ile220Val) rs202130413 0.00005
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala) rs749989641 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.1142+18T>G rs758055045 0.00004
NM_000046.5(ARSB):c.1142+9A>C rs756793742 0.00004
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944 0.00004
NM_000046.5(ARSB):c.1440C>T (p.Asp480=) rs556943300 0.00004
NM_000046.5(ARSB):c.1483G>A (p.Val495Ile) rs138643812 0.00004
NM_000046.5(ARSB):c.261G>A (p.Thr87=) rs756411069 0.00004
NM_000046.5(ARSB):c.384C>G (p.Leu128=) rs747605575 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.690+14C>T rs757236770 0.00004
NM_000046.5(ARSB):c.704A>G (p.Tyr235Cys) rs745804096 0.00004
NM_000046.5(ARSB):c.879G>A (p.Thr293=) rs755579897 0.00004
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125 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.129G>A (p.Arg43=) rs761491971 0.00003
NM_000046.5(ARSB):c.1336+2T>G rs768012515 0.00003
NM_000046.5(ARSB):c.1500C>T (p.Ser500=) rs762978908 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.313-14T>A rs764757378 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.501A>G (p.Gly167=) rs774949257 0.00003
NM_000046.5(ARSB):c.729G>A (p.Glu243=) rs144029271 0.00003
NM_000046.5(ARSB):c.960C>T (p.Ser320=) rs762614315 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.1125C>T (p.Asp375=) rs780432111 0.00002
NM_000046.5(ARSB):c.1143-1G>C rs431905495 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.1296A>T (p.Ala432=) rs1471453713 0.00002
NM_000046.5(ARSB):c.1387C>A (p.Pro463Thr) rs748137130 0.00002
NM_000046.5(ARSB):c.1425T>C (p.Phe475=) rs778250810 0.00002
NM_000046.5(ARSB):c.1480A>G (p.Ile494Val) rs140415504 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_000046.5(ARSB):c.478C>T (p.Arg160Ter) rs1255777033 0.00002
NM_000046.5(ARSB):c.76C>T (p.Leu26=) rs1220314595 0.00002
NM_000046.5(ARSB):c.963G>A (p.Leu321=) rs932761237 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.1023C>T (p.Gly341=) rs769067669 0.00001
NM_000046.5(ARSB):c.1034G>A (p.Arg345Gln) rs148067062 0.00001
NM_000046.5(ARSB):c.1142+1G>A rs746396210 0.00001
NM_000046.5(ARSB):c.1142+2T>C rs781510986 0.00001
NM_000046.5(ARSB):c.1143-4C>A rs371644454 0.00001
NM_000046.5(ARSB):c.1143-5T>C rs777189032 0.00001
NM_000046.5(ARSB):c.117C>T (p.Ala39=) rs1191475106 0.00001
NM_000046.5(ARSB):c.1195T>C (p.Phe399Leu) rs762979755 0.00001
NM_000046.5(ARSB):c.1214-8C>A rs766561160 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.1326G>A (p.Thr442=) rs537543103 0.00001
NM_000046.5(ARSB):c.1336+1G>A rs376233975 0.00001
NM_000046.5(ARSB):c.1337-6T>C rs758986089 0.00001
NM_000046.5(ARSB):c.1338C>T (p.Gly446=) rs1165970318 0.00001
NM_000046.5(ARSB):c.1340G>C (p.Cys447Ser) rs1465993279 0.00001
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys) rs555785323 0.00001
NM_000046.5(ARSB):c.1366C>T (p.Gln456Ter) rs200188234 0.00001
NM_000046.5(ARSB):c.1389C>T (p.Pro463=) rs774111900 0.00001
NM_000046.5(ARSB):c.1397A>G (p.Asp466Gly) rs745885140 0.00001
NM_000046.5(ARSB):c.1419G>A (p.Trp473Ter) rs1234650208 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.144C>T (p.Val48=) rs1333402479 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.1482C>T (p.Ile494=) rs767372619 0.00001
NM_000046.5(ARSB):c.1488A>G (p.Thr496=) rs1233444230 0.00001
NM_000046.5(ARSB):c.1584G>A (p.Val528=) rs1028337311 0.00001
NM_000046.5(ARSB):c.163C>T (p.Leu55=) rs769716793 0.00001
NM_000046.5(ARSB):c.174C>T (p.Asn58=) rs1753117512 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.215T>G (p.Leu72Arg) rs397514441 0.00001
NM_000046.5(ARSB):c.222G>C (p.Ala74=) rs1160145148 0.00001
NM_000046.5(ARSB):c.231C>T (p.Ala77=) rs542520705 0.00001
NM_000046.5(ARSB):c.236G>A (p.Gly79Glu) rs1271212818 0.00001
NM_000046.5(ARSB):c.245del (p.Leu82fs) rs750845916 0.00001
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr) rs1247117898 0.00001
NM_000046.5(ARSB):c.262C>T (p.Gln88Ter) rs1299207831 0.00001
NM_000046.5(ARSB):c.264G>A (p.Gln88=) rs750947605 0.00001
NM_000046.5(ARSB):c.267G>C (p.Pro89=) rs573453966 0.00001
NM_000046.5(ARSB):c.275C>T (p.Thr92Met) rs751010538 0.00001
NM_000046.5(ARSB):c.276G>A (p.Thr92=) rs1474189742 0.00001
NM_000046.5(ARSB):c.279G>A (p.Pro93=) rs1264986788 0.00001
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln) rs118203942 0.00001
NM_000046.5(ARSB):c.293T>C (p.Leu98Pro) rs1554032090 0.00001
NM_000046.5(ARSB):c.312+10G>T rs901158566 0.00001
NM_000046.5(ARSB):c.312+7G>A rs1315861475 0.00001
NM_000046.5(ARSB):c.312G>C (p.Gln104His) rs1478202079 0.00001
NM_000046.5(ARSB):c.313-12T>C rs574816959 0.00001
NM_000046.5(ARSB):c.324T>C (p.Gly108=) rs1024390842 0.00001
NM_000046.5(ARSB):c.328C>T (p.Gln110Ter) rs1554088099 0.00001
NM_000046.5(ARSB):c.339A>T (p.Ile113=) rs762897195 0.00001
NM_000046.5(ARSB):c.349T>C (p.Cys117Arg) rs118203939 0.00001
NM_000046.5(ARSB):c.385C>T (p.Leu129=) rs1421401801 0.00001
NM_000046.5(ARSB):c.429C>T (p.Val143=) rs775488835 0.00001
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg) rs746206847 0.00001
NM_000046.5(ARSB):c.499+10A>G rs779812696 0.00001
NM_000046.5(ARSB):c.499G>A (p.Gly167Arg) rs1554087999 0.00001
NM_000046.5(ARSB):c.500-7C>A rs1322794828 0.00001
NM_000046.5(ARSB):c.539G>A (p.Arg180His) rs139788949 0.00001
NM_000046.5(ARSB):c.555C>T (p.Asp185=) rs780886808 0.00001
NM_000046.5(ARSB):c.567C>G (p.Val189=) rs1396554870 0.00001
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter) rs371886102 0.00001
NM_000046.5(ARSB):c.572G>A (p.Arg191Gln) rs760875018 0.00001
NM_000046.5(ARSB):c.597C>T (p.Gly199=) rs570750353 0.00001
NM_000046.5(ARSB):c.617A>G (p.Tyr206Cys) rs775204710 0.00001
NM_000046.5(ARSB):c.628T>C (p.Tyr210His) rs769313336 0.00001
NM_000046.5(ARSB):c.663C>T (p.Ala221=) rs534594272 0.00001
NM_000046.5(ARSB):c.66C>T (p.Val22=) rs895965810 0.00001
NM_000046.5(ARSB):c.690+11C>T rs1178359653 0.00001
NM_000046.5(ARSB):c.691-1G>A rs778868348 0.00001
NM_000046.5(ARSB):c.714C>G (p.Leu238=) rs1293017800 0.00001
NM_000046.5(ARSB):c.723G>A (p.Val241=) rs199858121 0.00001
NM_000046.5(ARSB):c.726T>C (p.His242=) rs1319944737 0.00001
NM_000046.5(ARSB):c.74C>A (p.Pro25Gln) rs576541936 0.00001
NM_000046.5(ARSB):c.753C>T (p.Tyr251=) rs765711776 0.00001
NM_000046.5(ARSB):c.783G>A (p.Lys261=) rs575119903 0.00001
NM_000046.5(ARSB):c.784A>G (p.Asn262Asp) rs1561524845 0.00001
NM_000046.5(ARSB):c.84G>A (p.Leu28=) rs754324013 0.00001
NM_000046.5(ARSB):c.898+7C>T rs573613390 0.00001
NM_000046.5(ARSB):c.900T>A (p.Asp300Glu) rs1280123243 0.00001
NM_000046.5(ARSB):c.91T>C (p.Leu31=) rs1215729608 0.00001
NM_000046.5(ARSB):c.934T>C (p.Trp312Arg) rs398123124 0.00001
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809 0.00001
NM_000046.5(ARSB):c.984G>C (p.Gly328=) rs762523255 0.00001
NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter) rs1434169374 0.00001
GRCh37/hg19 5q14.1(chr5:78111022-78111871)
NC_000005.10:g.(78839427_78885583)_(78885828_78955294)del
NC_000005.10:g.(78885828_78955294)_(78955503_78964415)del
NC_000005.10:g.(?_78964406)_(78969202_?)del
NC_000005.9:g.(78135250_78181406)_(78181651_78251117)dup
NC_000005.9:g.(?_77385207)_(78135259_?)del
NC_000005.9:g.(?_78076210)_(78181660_?)del
NC_000005.9:g.(?_78111899)_(78135259_?)del
NC_000005.9:g.(?_78135159)_(78135269_?)dup
NC_000005.9:g.(?_78135159)_(78281071_?)dup
NC_000005.9:g.(?_78181397)_(78181660_?)dup
NC_000005.9:g.(?_78251108)_(78251335_?)del
NC_000005.9:g.(?_78251108)_(78281081_?)del
NC_000005.9:g.(?_78260219)_(78265035_?)del
NM_000046.3(ARSB):c.-1015A>G rs886060801
NM_000046.3(ARSB):c.-855dup rs574333268
NM_000046.3:c.384_386delCTC
NM_000046.4(ARSB):c.-112G>C rs886060798
NM_000046.4(ARSB):c.-276T>C rs534158632
NM_000046.4(ARSB):c.-322dup rs11424557
NM_000046.4(ARSB):c.-410_-407delCTAA rs151289643
NM_000046.4(ARSB):c.313-7412_690+1601del
NM_000046.4:c.(312+1_313-1_690+1_691-1)del
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.*2975G>T rs3088247
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.1005C>T (p.Pro335=)
NM_000046.5(ARSB):c.1011G>A (p.Leu337=) rs2112211547
NM_000046.5(ARSB):c.1024G>A (p.Val342Met)
NM_000046.5(ARSB):c.1026G>A (p.Val342=) rs2112211473
NM_000046.5(ARSB):c.1028A>T (p.Lys343Met) rs1554079305
NM_000046.5(ARSB):c.102G>A (p.Pro34=) rs1466555919
NM_000046.5(ARSB):c.1032C>G (p.Asn344Lys) rs1554079304
NM_000046.5(ARSB):c.1033C>T (p.Arg345Trp)
NM_000046.5(ARSB):c.1036G>T (p.Glu346Ter) rs1747989303
NM_000046.5(ARSB):c.1036del (p.Glu346fs) rs1554079302
NM_000046.5(ARSB):c.103_118del (p.Pro35fs) rs2112583121
NM_000046.5(ARSB):c.1046A>T (p.His349Leu)
NM_000046.5(ARSB):c.1047C>T (p.His349=)
NM_000046.5(ARSB):c.1048A>T (p.Ile350Phe) rs79970603
NM_000046.5(ARSB):c.1052C>T (p.Ser351Phe) rs756671977
NM_000046.5(ARSB):c.1057T>A (p.Trp353Arg) rs1554079297
NM_000046.5(ARSB):c.1059G>A (p.Trp353Ter) rs1554079296
NM_000046.5(ARSB):c.1060_1061del (p.Leu354fs)
NM_000046.5(ARSB):c.1065A>G (p.Pro355=) rs1580000175
NM_000046.5(ARSB):c.1069C>G (p.Leu357Val) rs1310322781
NM_000046.5(ARSB):c.1071C>A (p.Leu357=)
NM_000046.5(ARSB):c.1071C>T (p.Leu357=) rs1216502750
NM_000046.5(ARSB):c.1074G>A (p.Val358=) rs2112211034
NM_000046.5(ARSB):c.1079T>C (p.Leu360Pro) rs1554079284
NM_000046.5(ARSB):c.1081G>T (p.Ala361Ser)
NM_000046.5(ARSB):c.1088del (p.Gly363fs)
NM_000046.5(ARSB):c.1089A>G (p.Gly363=)
NM_000046.5(ARSB):c.108_120del (p.Ser37fs) rs1028653411
NM_000046.5(ARSB):c.1090C>T (p.His364Tyr) rs1457848169
NM_000046.5(ARSB):c.1095C>A (p.Thr365=) rs2112210847
NM_000046.5(ARSB):c.1115A>G (p.Asp372Gly) rs1554079277
NM_000046.5(ARSB):c.111G>C (p.Ser37=) rs2112583225
NM_000046.5(ARSB):c.1127T>A (p.Val376Glu) rs1554079268
NM_000046.5(ARSB):c.1128G>A (p.Val376=)
NM_000046.5(ARSB):c.1130G>A (p.Trp377Ter) rs1554079265
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186
NM_000046.5(ARSB):c.113del (p.Gly38fs) rs1349838988
NM_000046.5(ARSB):c.1140_1142+2del rs1747980506
NM_000046.5(ARSB):c.1142+10C>T
NM_000046.5(ARSB):c.1142+11C>T
NM_000046.5(ARSB):c.1142+12C>T
NM_000046.5(ARSB):c.1142+14G>A
NM_000046.5(ARSB):c.1142+1G>T rs746396210
NM_000046.5(ARSB):c.1142+2T>A rs781510986
NM_000046.5(ARSB):c.1142+581A>G
NM_000046.5(ARSB):c.1142+671A>G
NM_000046.5(ARSB):c.1142+7A>T rs1308281232
NM_000046.5(ARSB):c.1143-16A>C
NM_000046.5(ARSB):c.1143-1G>A
NM_000046.5(ARSB):c.1143-1G>T
NM_000046.5(ARSB):c.1143-22011C>A
NM_000046.5(ARSB):c.1143-8T>G rs431905496
NM_000046.5(ARSB):c.114del (p.Ala39fs) rs1554032252
NM_000046.5(ARSB):c.1161C>A (p.Pro387=)
NM_000046.5(ARSB):c.1161C>T (p.Pro387=)
NM_000046.5(ARSB):c.1161dup (p.Arg388fs) rs1554074135
NM_000046.5(ARSB):c.1163G>C (p.Arg388Thr) rs1554074134
NM_000046.5(ARSB):c.1168G>A (p.Glu390Lys) rs1554074132
NM_000046.5(ARSB):c.116_123del (p.Ala39fs) rs1554032243
NM_000046.5(ARSB):c.1170G>A (p.Glu390=)
NM_000046.5(ARSB):c.1173G>C (p.Leu391=) rs2111983867
NM_000046.5(ARSB):c.1174C>T (p.Leu392=) rs2111983845
NM_000046.5(ARSB):c.1178A>G (p.His393Arg) rs118203944
NM_000046.5(ARSB):c.1181A>G (p.Asn394Ser)
NM_000046.5(ARSB):c.118_134del (p.Gly40fs) rs398123123
NM_000046.5(ARSB):c.1190C>T (p.Pro397Leu)
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu) rs200793396
NM_000046.5(ARSB):c.11G>T (p.Arg4Leu)
NM_000046.5(ARSB):c.1203C>T (p.Asp401=) rs2112718154
NM_000046.5(ARSB):c.1206T>C (p.Ser402=)
NM_000046.5(ARSB):c.1208C>A (p.Ser403Ter) rs771296632
NM_000046.5(ARSB):c.1208C>G (p.Ser403Ter) rs771296632
NM_000046.5(ARSB):c.1208C>T (p.Ser403Leu)
NM_000046.5(ARSB):c.1208del (p.Ser403fs) rs1554074124
NM_000046.5(ARSB):c.1209A>G (p.Ser403=)
NM_000046.5(ARSB):c.120G>T (p.Gly40=)
NM_000046.5(ARSB):c.1211C>T (p.Pro404Leu)
NM_000046.5(ARSB):c.1213+15A>G
NM_000046.5(ARSB):c.1213+18G>A
NM_000046.5(ARSB):c.1213+5G>A rs1554074119
NM_000046.5(ARSB):c.1213+6T>C rs1554074118
NM_000046.5(ARSB):c.1214-12A>G
NM_000046.5(ARSB):c.1214-12dup
NM_000046.5(ARSB):c.1214-14C>T
NM_000046.5(ARSB):c.1214-15A>T rs1353542088
NM_000046.5(ARSB):c.1214-17A>C
NM_000046.5(ARSB):c.1214-1G>A
NM_000046.5(ARSB):c.1214-2A>G rs1554069808
NM_000046.5(ARSB):c.1214-2A>T rs1554069808
NM_000046.5(ARSB):c.1214-4C>T
NM_000046.5(ARSB):c.1214-5C>A rs1580962835
NM_000046.5(ARSB):c.1214-5C>G rs1580962835
NM_000046.5(ARSB):c.1214-6T>G
NM_000046.5(ARSB):c.121dup (p.Ala41fs) rs1561197865
NM_000046.5(ARSB):c.123C>A (p.Ala41=) rs886038216
NM_000046.5(ARSB):c.123_139dup (p.Leu47fs) rs766772376
NM_000046.5(ARSB):c.1247A>T (p.Asp416Val)
NM_000046.5(ARSB):c.1250C>T (p.Ser417Phe)
NM_000046.5(ARSB):c.1254T>C (p.Ser418=) rs1362185630
NM_000046.5(ARSB):c.1261G>T (p.Glu421Ter) rs1554069793
NM_000046.5(ARSB):c.1272C>A (p.Ala424=) rs2112619347
NM_000046.5(ARSB):c.1279del (p.Thr427fs) rs1554069791
NM_000046.5(ARSB):c.1281A>G (p.Thr427=)
NM_000046.5(ARSB):c.1286dup (p.His430fs) rs1554069786
NM_000046.5(ARSB):c.1288C>A (p.His430Asn) rs1554069785
NM_000046.5(ARSB):c.1289A>G (p.His430Arg) rs1171277553
NM_000046.5(ARSB):c.1291G>C (p.Ala431Pro)
NM_000046.5(ARSB):c.1292C>A (p.Ala431Asp) rs1748937951
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter) rs1355071930
NM_000046.5(ARSB):c.1301G>T (p.Arg434Ile) rs1252936336
NM_000046.5(ARSB):c.1305T>C (p.His435=)
NM_000046.5(ARSB):c.1308A>C (p.Gly436=) rs753899382
NM_000046.5(ARSB):c.1314G>A (p.Trp438Ter)
NM_000046.5(ARSB):c.1315A>G (p.Lys439Glu) rs1554069778
NM_000046.5(ARSB):c.1320C>T (p.Leu440=)
NM_000046.5(ARSB):c.1325C>G (p.Thr442Arg)
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.1326G>T (p.Thr442=) rs537543103
NM_000046.5(ARSB):c.132G>T (p.Pro44=) rs749069139
NM_000046.5(ARSB):c.1334C>T (p.Pro445Leu) rs1554069775
NM_000046.5(ARSB):c.1336+12A>G
NM_000046.5(ARSB):c.1336+18G>A
NM_000046.5(ARSB):c.1336+2T>C rs768012515
NM_000046.5(ARSB):c.1336+4G>T
NM_000046.5(ARSB):c.1336+8C>A
NM_000046.5(ARSB):c.1336+8C>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.1337-14G>C
NM_000046.5(ARSB):c.1337-15del
NM_000046.5(ARSB):c.1337-16T>C
NM_000046.5(ARSB):c.1337-19GTTTT[3] rs780397796
NM_000046.5(ARSB):c.1337-19_1337-18del
NM_000046.5(ARSB):c.1337-1G>C
NM_000046.5(ARSB):c.1337-7T>C
NM_000046.5(ARSB):c.1340G>T (p.Cys447Phe) rs1465993279
NM_000046.5(ARSB):c.1342G>A (p.Gly448Ser)
NM_000046.5(ARSB):c.1347C>T (p.Tyr449=) rs759008131
NM_000046.5(ARSB):c.1349G>T (p.Trp450Leu) rs1554069685
NM_000046.5(ARSB):c.1353C>T (p.Phe451=) rs2112617431
NM_000046.5(ARSB):c.1356T>C (p.Pro452=)
NM_000046.5(ARSB):c.135C>G (p.Pro45=) rs2112582844
NM_000046.5(ARSB):c.1368A>G (p.Gln456=)
NM_000046.5(ARSB):c.136C>T (p.His46Tyr)
NM_000046.5(ARSB):c.1381G>T (p.Glu461Ter) rs2112617391
NM_000046.5(ARSB):c.1391C>A (p.Ser464Ter) rs769996056
NM_000046.5(ARSB):c.1394C>G (p.Ser465Ter) rs1209412483
NM_000046.5(ARSB):c.1395A>G (p.Ser465=) rs2112617369
NM_000046.5(ARSB):c.1404A>C (p.Pro468=) rs1580961280
NM_000046.5(ARSB):c.1415T>C (p.Leu472Pro) rs1211360114
NM_000046.5(ARSB):c.1418G>A (p.Trp473Ter)
NM_000046.5(ARSB):c.141G>C (p.Leu47=)
NM_000046.5(ARSB):c.1422C>T (p.Leu474=)
NM_000046.5(ARSB):c.1428T>C (p.Asp476=)
NM_000046.5(ARSB):c.1433del (p.Asp478fs)
NM_000046.5(ARSB):c.1434T>C (p.Asp478=) rs2112617302
NM_000046.5(ARSB):c.1438dup (p.Asp480fs) rs1167459660
NM_000046.5(ARSB):c.1442C>T (p.Pro481Leu) rs906245021
NM_000046.5(ARSB):c.1451G>C (p.Arg484Thr)
NM_000046.5(ARSB):c.1457A>T (p.Asp486Val) rs1554069670
NM_000046.5(ARSB):c.1458C>A (p.Asp486Glu)
NM_000046.5(ARSB):c.1466G>A (p.Arg489Lys) rs1748894464
NM_000046.5(ARSB):c.1475del (p.Pro492fs) rs1554069669
NM_000046.5(ARSB):c.147C>T (p.Phe49=)
NM_000046.5(ARSB):c.1482C>A (p.Ile494=)
NM_000046.5(ARSB):c.1482del (p.Ile494fs) rs1554069668
NM_000046.5(ARSB):c.1488A>T (p.Thr496=)
NM_000046.5(ARSB):c.1491G>C (p.Lys497Asn)
NM_000046.5(ARSB):c.1493T>C (p.Leu498Pro) rs774358117
NM_000046.5(ARSB):c.1499C>T (p.Ser500Phe)
NM_000046.5(ARSB):c.149T>A (p.Leu50Ter) rs1554032222
NM_000046.5(ARSB):c.1504C>T (p.Leu502=)
NM_000046.5(ARSB):c.1506A>G (p.Leu502=)
NM_000046.5(ARSB):c.1507C>T (p.Gln503Ter) rs771113472
NM_000046.5(ARSB):c.150G>A (p.Leu50=) rs2112582698
NM_000046.5(ARSB):c.1515C>T (p.Tyr505=) rs1554069663
NM_000046.5(ARSB):c.1521dup (p.His508fs)
NM_000046.5(ARSB):c.152T>C (p.Leu51Pro) rs1554032220
NM_000046.5(ARSB):c.1530C>T (p.Val510=) rs2112617107
NM_000046.5(ARSB):c.1533del (p.Val512fs)
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs) rs1310996698
NM_000046.5(ARSB):c.1539C>A (p.Tyr513Ter)
NM_000046.5(ARSB):c.1539C>G (p.Tyr513Ter) rs1251438062
NM_000046.5(ARSB):c.1545T>G (p.Pro515=)
NM_000046.5(ARSB):c.1548A>C (p.Ala516=) rs1158401003
NM_000046.5(ARSB):c.1554C>A (p.Asp518Glu) rs1233108073
NM_000046.5(ARSB):c.1557C>T (p.Pro519=) rs1748890674
NM_000046.5(ARSB):c.1558C>T (p.Arg520Cys)
NM_000046.5(ARSB):c.1558del (p.Arg520fs) rs1160897474
NM_000046.5(ARSB):c.1558dup (p.Arg520fs)
NM_000046.5(ARSB):c.1560C>T (p.Arg520=) rs750093168
NM_000046.5(ARSB):c.1562G>A (p.Cys521Tyr) rs1554069661
NM_000046.5(ARSB):c.1575C>A (p.Ala525=) rs2112617015
NM_000046.5(ARSB):c.1577del (p.Thr526fs) rs1554069660
NM_000046.5(ARSB):c.1578T>C (p.Thr526=) rs2112617006
NM_000046.5(ARSB):c.157G>A (p.Asp53Asn) rs1554032217
NM_000046.5(ARSB):c.1581G>C (p.Gly527=)
NM_000046.5(ARSB):c.1582_1596del (p.Val528_Trp532del) rs1554069658
NM_000046.5(ARSB):c.158A>G (p.Asp53Gly) rs2112582627
NM_000046.5(ARSB):c.1592C>G (p.Pro531Arg) rs1554069659
NM_000046.5(ARSB):c.159C>T (p.Asp53=)
NM_000046.5(ARSB):c.15C>A (p.Gly5=)
NM_000046.5(ARSB):c.15C>G (p.Gly5=) rs1313700683
NM_000046.5(ARSB):c.15C>T (p.Gly5=)
NM_000046.5(ARSB):c.1600T>C (p.Ter534Gln) rs1554069657
NM_000046.5(ARSB):c.1601A>C (p.Ter534Ser) rs1554069655
NM_000046.5(ARSB):c.1601A>G (p.Ter534Trp) rs1554069655
NM_000046.5(ARSB):c.160G>A (p.Asp54Asn) rs1554032216
NM_000046.5(ARSB):c.161A>C (p.Asp54Ala) rs1378501017
NM_000046.5(ARSB):c.166G>A (p.Gly56Ser)
NM_000046.5(ARSB):c.166G>C (p.Gly56Arg)
NM_000046.5(ARSB):c.167G>A (p.Gly56Asp) rs1554032211
NM_000046.5(ARSB):c.170G>A (p.Trp57Ter) rs200712296
NM_000046.5(ARSB):c.171G>C (p.Trp57Cys) rs1554032205
NM_000046.5(ARSB):c.173del (p.Asn58fs) rs1180759765
NM_000046.5(ARSB):c.175G>A (p.Asp59Asn) rs1236509896
NM_000046.5(ARSB):c.176A>T (p.Asp59Val) rs1179935748
NM_000046.5(ARSB):c.17_21dup (p.Ser8fs)
NM_000046.5(ARSB):c.180C>A (p.Val60=)
NM_000046.5(ARSB):c.180C>T (p.Val60=)
NM_000046.5(ARSB):c.189C>T (p.His63=)
NM_000046.5(ARSB):c.189_190insA (p.Gly64fs) rs1554032196
NM_000046.5(ARSB):c.18G>A (p.Ala6=)
NM_000046.5(ARSB):c.18G>C (p.Ala6=) rs1047766714
NM_000046.5(ARSB):c.191del (p.Gly64fs)
NM_000046.5(ARSB):c.194C>T (p.Ser65Phe) rs1233331806
NM_000046.5(ARSB):c.195C>A (p.Ser65=)
NM_000046.5(ARSB):c.195C>T (p.Ser65=) rs2112582289
NM_000046.5(ARSB):c.206C>T (p.Thr69Met) rs1554032175
NM_000046.5(ARSB):c.207_213dup (p.Leu72fs) rs1554032160
NM_000046.5(ARSB):c.208_215del (p.Pro70fs) rs1554032155
NM_000046.5(ARSB):c.210G>A (p.Pro70=)
NM_000046.5(ARSB):c.215T>A (p.Leu72Gln) rs397514441
NM_000046.5(ARSB):c.219del (p.Asp73fs) rs1554032153
NM_000046.5(ARSB):c.21G>A (p.Ala7=) rs1266041134
NM_000046.5(ARSB):c.21G>C (p.Ala7=)
NM_000046.5(ARSB):c.222G>A (p.Ala74=) rs1160145148
NM_000046.5(ARSB):c.223_232del (p.Leu75fs) rs1554032145
NM_000046.5(ARSB):c.223del (p.Leu75fs)
NM_000046.5(ARSB):c.225G>A (p.Leu75=) rs1362656468
NM_000046.5(ARSB):c.225G>T (p.Leu75=)
NM_000046.5(ARSB):c.228G>A (p.Ala76=)
NM_000046.5(ARSB):c.234C>G (p.Gly78=)
NM_000046.5(ARSB):c.237_243del (p.Val80fs) rs1554032134
NM_000046.5(ARSB):c.238del (p.Val80fs) rs431905493
NM_000046.5(ARSB):c.241C>T (p.Leu81Phe)
NM_000046.5(ARSB):c.244C>G (p.Leu82Val)
NM_000046.5(ARSB):c.244C>T (p.Leu82=)
NM_000046.5(ARSB):c.245T>C (p.Leu82Pro)
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.246G>T (p.Leu82=) rs1035210606
NM_000046.5(ARSB):c.247_248del (p.Asp83fs) rs1554032131
NM_000046.5(ARSB):c.253T>C (p.Tyr85His) rs1554032129
NM_000046.5(ARSB):c.253TAC[1] (p.Tyr86del) rs969231209
NM_000046.5(ARSB):c.255C>G (p.Tyr85Ter)
NM_000046.5(ARSB):c.257del (p.Tyr86fs) rs1554032122
NM_000046.5(ARSB):c.25T>C (p.Leu9=)
NM_000046.5(ARSB):c.260C>G (p.Thr87Arg) rs1413561387
NM_000046.5(ARSB):c.263dup (p.Pro89fs) rs1554032118
NM_000046.5(ARSB):c.264G>C (p.Gln88His) rs750947605
NM_000046.5(ARSB):c.264G>T (p.Gln88His) rs750947605
NM_000046.5(ARSB):c.267G>A (p.Pro89=) rs573453966
NM_000046.5(ARSB):c.270_274del (p.Cys91fs) rs1554032110
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.281C>A (p.Ser94Ter) rs1554032099
NM_000046.5(ARSB):c.281C>T (p.Ser94Leu) rs1554032099
NM_000046.5(ARSB):c.282G>A (p.Ser94=) rs2112581145
NM_000046.5(ARSB):c.283C>A (p.Arg95=)
NM_000046.5(ARSB):c.283C>T (p.Arg95Trp) rs1201268402
NM_000046.5(ARSB):c.284G>T (p.Arg95Leu) rs118203942
NM_000046.5(ARSB):c.285G>A (p.Arg95=) rs763502806
NM_000046.5(ARSB):c.288C>G (p.Ser96Arg) rs1554032095
NM_000046.5(ARSB):c.289C>A (p.Gln97Lys)
NM_000046.5(ARSB):c.289C>T (p.Gln97Ter) rs1554032094
NM_000046.5(ARSB):c.290A>G (p.Gln97Arg) rs886039914
NM_000046.5(ARSB):c.291G>C (p.Gln97His)
NM_000046.5(ARSB):c.293T>A (p.Leu98Gln) rs1554032090
NM_000046.5(ARSB):c.293T>G (p.Leu98Arg) rs1554032090
NM_000046.5(ARSB):c.300T>C (p.Thr100=) rs1753094740
NM_000046.5(ARSB):c.300_312+18del rs2112580593
NM_000046.5(ARSB):c.302G>A (p.Gly101Asp) rs2112580877
NM_000046.5(ARSB):c.304C>A (p.Arg102Ser)
NM_000046.5(ARSB):c.306C>G (p.Arg102=)
NM_000046.5(ARSB):c.307_312+147del rs1554089838
NM_000046.5(ARSB):c.309C>T (p.Tyr103=)
NM_000046.5(ARSB):c.30C>G (p.Pro10=)
NM_000046.5(ARSB):c.310C>T (p.Gln104Ter) rs1753093650
NM_000046.5(ARSB):c.312+11C>T
NM_000046.5(ARSB):c.312+12C>T
NM_000046.5(ARSB):c.312+14C>A rs1293997321
NM_000046.5(ARSB):c.312+14C>G
NM_000046.5(ARSB):c.312+14C>T
NM_000046.5(ARSB):c.312+14_312+18del
NM_000046.5(ARSB):c.312+14_312+22del rs1425725676
NM_000046.5(ARSB):c.312+15C>G
NM_000046.5(ARSB):c.312+15del
NM_000046.5(ARSB):c.312+16G>A
NM_000046.5(ARSB):c.312+17C>G
NM_000046.5(ARSB):c.312+18C>T
NM_000046.5(ARSB):c.312+19_312+36del rs762417834
NM_000046.5(ARSB):c.312+19_312+41del
NM_000046.5(ARSB):c.312+2T>G
NM_000046.5(ARSB):c.312+8G>A rs774555967
NM_000046.5(ARSB):c.312+8_312+16dup
NM_000046.5(ARSB):c.312+9C>A rs2112580691
NM_000046.5(ARSB):c.313-11A>G
NM_000046.5(ARSB):c.313-16T>C
NM_000046.5(ARSB):c.313-19T>G
NM_000046.5(ARSB):c.315C>T (p.Ile105=) rs2112530668
NM_000046.5(ARSB):c.31C>T (p.Arg11Ter)
NM_000046.5(ARSB):c.321A>G (p.Thr107=) rs2112530622
NM_000046.5(ARSB):c.323G>A (p.Gly108Asp)
NM_000046.5(ARSB):c.323G>T (p.Gly108Val) rs768802200
NM_000046.5(ARSB):c.327A>G (p.Leu109=)
NM_000046.5(ARSB):c.332A>C (p.His111Pro) rs1554088096
NM_000046.5(ARSB):c.336A>G (p.Gln112=)
NM_000046.5(ARSB):c.339A>C (p.Ile113=)
NM_000046.5(ARSB):c.33A>G (p.Arg11=)
NM_000046.5(ARSB):c.345G>A (p.Trp115Ter) rs2112530498
NM_000046.5(ARSB):c.347C>A (p.Pro116His) rs775780931
NM_000046.5(ARSB):c.34G>C (p.Gly12Arg)
NM_000046.5(ARSB):c.350G>A (p.Cys117Tyr)
NM_000046.5(ARSB):c.351T>C (p.Cys117=) rs2112530435
NM_000046.5(ARSB):c.352_365dup (p.Pro123fs)
NM_000046.5(ARSB):c.354G>A (p.Gln118=)
NM_000046.5(ARSB):c.356_358del (p.Pro119_Ser120delinsArg) rs1554088087
NM_000046.5(ARSB):c.357C>T (p.Pro119=)
NM_000046.5(ARSB):c.359dup (p.Ser120fs)
NM_000046.5(ARSB):c.361T>C (p.Cys121Arg) rs1554088083
NM_000046.5(ARSB):c.363T>C (p.Cys121=) rs2112530329
NM_000046.5(ARSB):c.36C>A (p.Gly12=) rs1580170993
NM_000046.5(ARSB):c.370C>T (p.Leu124=)
NM_000046.5(ARSB):c.375dup (p.Glu126Ter) rs1554088081
NM_000046.5(ARSB):c.376G>T (p.Glu126Ter)
NM_000046.5(ARSB):c.384_386del (p.Leu129del) rs1180227844
NM_000046.5(ARSB):c.385del (p.Leu129fs) rs1752338387
NM_000046.5(ARSB):c.387G>A (p.Leu129=) rs1752337674
NM_000046.5(ARSB):c.387G>C (p.Leu129=)
NM_000046.5(ARSB):c.389C>T (p.Pro130Leu) rs1435155976
NM_000046.5(ARSB):c.390C>G (p.Pro130=)
NM_000046.5(ARSB):c.395T>C (p.Leu132Pro) rs1554088079
NM_000046.5(ARSB):c.399A>G (p.Leu133=) rs778723643
NM_000046.5(ARSB):c.39C>T (p.Pro13=)
NM_000046.5(ARSB):c.403G>T (p.Glu135Ter)
NM_000046.5(ARSB):c.409G>A (p.Gly137Ser) rs2112530008
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.417T>C (p.Thr139=)
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.427del (p.Val143fs) rs766914147
NM_000046.5(ARSB):c.430G>C (p.Gly144Arg) rs746206847
NM_000046.5(ARSB):c.432A>G (p.Gly144=)
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.438G>A (p.Trp146Ter) rs757061042
NM_000046.5(ARSB):c.438del (p.Trp146fs)
NM_000046.5(ARSB):c.440A>C (p.His147Pro) rs1554088030
NM_000046.5(ARSB):c.441C>G (p.His147Gln) rs1752333074
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.468del (p.Pro157fs) rs2112529559
NM_000046.5(ARSB):c.46C>G (p.Arg16Gly)
NM_000046.5(ARSB):c.474C>T (p.Thr158=) rs1042478077
NM_000046.5(ARSB):c.477C>T (p.Arg159=) rs966538858
NM_000046.5(ARSB):c.478C>G (p.Arg160Gly)
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln) rs1196325597
NM_000046.5(ARSB):c.480A>G (p.Arg160=) rs2112529443
NM_000046.5(ARSB):c.489_491del (p.Thr164del) rs1214445569
NM_000046.5(ARSB):c.48G>A (p.Arg16=)
NM_000046.5(ARSB):c.48G>C (p.Arg16=)
NM_000046.5(ARSB):c.492C>T (p.Thr164=) rs2112529378
NM_000046.5(ARSB):c.498del (p.Phe166fs) rs1554088002
NM_000046.5(ARSB):c.499+13C>G
NM_000046.5(ARSB):c.499+13C>T
NM_000046.5(ARSB):c.499+15C>T
NM_000046.5(ARSB):c.499+16A>G
NM_000046.5(ARSB):c.499+16_499+17del
NM_000046.5(ARSB):c.499+2T>A
NM_000046.5(ARSB):c.499+5T>C
NM_000046.5(ARSB):c.499+6G>A
NM_000046.5(ARSB):c.499+7G>A rs1334103341
NM_000046.5(ARSB):c.499G>C (p.Gly167Arg)
NM_000046.5(ARSB):c.500-10A>G rs2112514597
NM_000046.5(ARSB):c.500-10A>T
NM_000046.5(ARSB):c.500-11C>T
NM_000046.5(ARSB):c.500-17G>A rs372317070
NM_000046.5(ARSB):c.500-17G>T
NM_000046.5(ARSB):c.500-18C>T
NM_000046.5(ARSB):c.500-4G>A rs2112514576
NM_000046.5(ARSB):c.500-4G>T rs2112514576
NM_000046.5(ARSB):c.500-8T>A
NM_000046.5(ARSB):c.509T>G (p.Leu170Arg) rs1484763838
NM_000046.5(ARSB):c.511G>A (p.Gly171Ser) rs1554087445
NM_000046.5(ARSB):c.523T>C (p.Tyr175His)
NM_000046.5(ARSB):c.523T>G (p.Tyr175Asp) rs748739839
NM_000046.5(ARSB):c.531C>G (p.Ser177=) rs377234838
NM_000046.5(ARSB):c.531C>T (p.Ser177=) rs377234838
NM_000046.5(ARSB):c.532C>G (p.His178Asp) rs1554087441
NM_000046.5(ARSB):c.532_533inv (p.His178Cys)
NM_000046.5(ARSB):c.533A>T (p.His178Leu) rs1554087439
NM_000046.5(ARSB):c.534T>G (p.His178Gln)
NM_000046.5(ARSB):c.538C>T (p.Arg180Cys)
NM_000046.5(ARSB):c.540C>T (p.Arg180=)
NM_000046.5(ARSB):c.546A>G (p.Thr182=)
NM_000046.5(ARSB):c.54del (p.Leu19fs)
NM_000046.5(ARSB):c.551T>C (p.Ile184Thr)
NM_000046.5(ARSB):c.556G>A (p.Ala186Thr)
NM_000046.5(ARSB):c.559C>T (p.Leu187=)
NM_000046.5(ARSB):c.574T>C (p.Cys192Arg) rs1554087423
NM_000046.5(ARSB):c.582T>G (p.Leu194=)
NM_000046.5(ARSB):c.589C>T (p.Arg197Ter) rs773460207
NM_000046.5(ARSB):c.593A>G (p.Asp198Gly) rs1406969234
NM_000046.5(ARSB):c.5G>A (p.Gly2Asp)
NM_000046.5(ARSB):c.60C>T (p.Leu20=) rs2112583734
NM_000046.5(ARSB):c.615A>G (p.Gly205=)
NM_000046.5(ARSB):c.625A>T (p.Met209Leu)
NM_000046.5(ARSB):c.630_636del (p.Met209_Tyr210insTer) rs1554087406
NM_000046.5(ARSB):c.635C>T (p.Thr212Ile) rs1554087409
NM_000046.5(ARSB):c.63C>G (p.Pro21=) rs1221636759
NM_000046.5(ARSB):c.63C>T (p.Pro21=)
NM_000046.5(ARSB):c.64dup (p.Val22fs) rs2112583680
NM_000046.5(ARSB):c.654G>A (p.Arg218=) rs2112513773
NM_000046.5(ARSB):c.657T>C (p.Ala219=)
NM_000046.5(ARSB):c.659_660del (p.Ile220fs) rs1554087395
NM_000046.5(ARSB):c.659del (p.Ile220fs)
NM_000046.5(ARSB):c.666C>T (p.Leu222=) rs1752122294
NM_000046.5(ARSB):c.678T>C (p.His226=) rs1580135735
NM_000046.5(ARSB):c.680C>A (p.Pro227Gln)
NM_000046.5(ARSB):c.680del (p.Pro227fs)
NM_000046.5(ARSB):c.683C>T (p.Pro228Leu)
NM_000046.5(ARSB):c.689A>G (p.Lys230Arg)
NM_000046.5(ARSB):c.690+15T>C
NM_000046.5(ARSB):c.690+16A>C
NM_000046.5(ARSB):c.690+16A>G
NM_000046.5(ARSB):c.690+2T>C
NM_000046.5(ARSB):c.690+2T>G
NM_000046.5(ARSB):c.690+9T>C
NM_000046.5(ARSB):c.690+9del rs2112513488
NM_000046.5(ARSB):c.691-12C>T
NM_000046.5(ARSB):c.691-20T>C
NM_000046.5(ARSB):c.691-4C>T
NM_000046.5(ARSB):c.691-6T>C rs2112484612
NM_000046.5(ARSB):c.691-7T>C
NM_000046.5(ARSB):c.691-8C>T
NM_000046.5(ARSB):c.694C>T (p.Leu232=) rs1264190516
NM_000046.5(ARSB):c.694_695del (p.Leu232fs)
NM_000046.5(ARSB):c.69C>T (p.Val23=) rs765737800
NM_000046.5(ARSB):c.6T>A (p.Gly2=)
NM_000046.5(ARSB):c.707T>C (p.Leu236Pro) rs118203940
NM_000046.5(ARSB):c.710C>A (p.Ala237Asp) rs1554086435
NM_000046.5(ARSB):c.713T>A (p.Leu238His)
NM_000046.5(ARSB):c.715C>T (p.Gln239Ter)
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.723G>T (p.Val241=) rs199858121
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.743del (p.Pro248fs) rs431905494
NM_000046.5(ARSB):c.744T>A (p.Pro248=)
NM_000046.5(ARSB):c.745G>T (p.Glu249Ter)
NM_000046.5(ARSB):c.750_754delinsCCTGAAG (p.Glu250fs) rs1554086417
NM_000046.5(ARSB):c.750_754delinsCCTGAAGTCAAG (p.Glu250fs) rs1554086417
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter) rs765711776
NM_000046.5(ARSB):c.755T>G (p.Leu252Trp)
NM_000046.5(ARSB):c.756G>A (p.Leu252=) rs544156449
NM_000046.5(ARSB):c.762A>T (p.Pro254=) rs2112484023
NM_000046.5(ARSB):c.765T>A (p.Tyr255Ter) rs1554086414
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.777A>G (p.Gln259=)
NM_000046.5(ARSB):c.785dup (p.Asn262fs) rs749015246
NM_000046.5(ARSB):c.789G>A (p.Arg263=) rs2112483929
NM_000046.5(ARSB):c.789del (p.Arg263fs)
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.797A>G (p.Tyr266Cys)
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.813C>T (p.Ser271=)
NM_000046.5(ARSB):c.822T>C (p.Asp274=)
NM_000046.5(ARSB):c.823G>T (p.Glu275Ter) rs1580121683
NM_000046.5(ARSB):c.837T>C (p.Asn279=) rs1751673041
NM_000046.5(ARSB):c.838G>A (p.Val280Ile)
NM_000046.5(ARSB):c.846A>G (p.Ala282=)
NM_000046.5(ARSB):c.847G>C (p.Ala283Pro)
NM_000046.5(ARSB):c.85C>T (p.Leu29=)
NM_000046.5(ARSB):c.861T>C (p.Ser287=)
NM_000046.5(ARSB):c.866_867insTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGCAGTGGGCT (p.Leu289_Trp290insGlyArgProArgArgAlaAspHisGluValLysArgSerArgProSerArgLeuLysArgTer) rs2112483439
NM_000046.5(ARSB):c.873C>A (p.Asn291Lys) rs2112483415
NM_000046.5(ARSB):c.883_884dup (p.Ile296fs) rs1554086370
NM_000046.5(ARSB):c.886A>C (p.Ile296Leu) rs1440962115
NM_000046.5(ARSB):c.887T>A (p.Ile296Asn) rs1554086368
NM_000046.5(ARSB):c.891T>G (p.Phe297Leu)
NM_000046.5(ARSB):c.896C>T (p.Thr299Ile) rs2112483313
NM_000046.5(ARSB):c.898+10T>C
NM_000046.5(ARSB):c.898+14T>C
NM_000046.5(ARSB):c.898+1G>A rs1751669303
NM_000046.5(ARSB):c.898+1G>T
NM_000046.5(ARSB):c.898+9G>C
NM_000046.5(ARSB):c.899-10T>C
NM_000046.5(ARSB):c.899-1337_1142+1055del
NM_000046.5(ARSB):c.899-16C>T
NM_000046.5(ARSB):c.899-17A>G
NM_000046.5(ARSB):c.899-4dup
NM_000046.5(ARSB):c.899-9G>A
NM_000046.5(ARSB):c.900T>G (p.Asp300Glu) rs1280123243
NM_000046.5(ARSB):c.903C>G (p.Asn301Lys) rs147495977
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg) rs779378413
NM_000046.5(ARSB):c.904_905inv (p.Gly302Pro)
NM_000046.5(ARSB):c.905G>A (p.Gly302Glu)
NM_000046.5(ARSB):c.908G>A (p.Gly303Glu) rs1408739927
NM_000046.5(ARSB):c.90G>A (p.Leu30=)
NM_000046.5(ARSB):c.916_917del (p.Leu306fs)
NM_000046.5(ARSB):c.917T>C (p.Leu306Ser)
NM_000046.5(ARSB):c.91TTG[1] (p.Leu32del) rs535493472
NM_000046.5(ARSB):c.921A>C (p.Ala307=) rs2112212439
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.924G>C (p.Gly308=)
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.936G>T (p.Trp312Cys) rs759384989
NM_000046.5(ARSB):c.937C>T (p.Pro313Ser) rs749989641
NM_000046.5(ARSB):c.942T>C (p.Leu314=) rs1748000092
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter) rs891298440
NM_000046.5(ARSB):c.944G>C (p.Arg315Pro) rs727503809
NM_000046.5(ARSB):c.945A>G (p.Arg315=)
NM_000046.5(ARSB):c.94T>C (p.Leu32=) rs2112583408
NM_000046.5(ARSB):c.951A>G (p.Arg317=) rs1318270777
NM_000046.5(ARSB):c.954A>G (p.Lys318=) rs2112212040
NM_000046.5(ARSB):c.956G>A (p.Trp319Ter)
NM_000046.5(ARSB):c.959G>T (p.Ser320Ile) rs2112211996
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg) rs762614315
NM_000046.5(ARSB):c.962T>A (p.Leu321Gln)
NM_000046.5(ARSB):c.962T>C (p.Leu321Pro) rs1554079320
NM_000046.5(ARSB):c.963G>T (p.Leu321=)
NM_000046.5(ARSB):c.966G>A (p.Trp322Ter) rs1554079318
NM_000046.5(ARSB):c.976G>A (p.Val326Ile)
NM_000046.5(ARSB):c.979C>A (p.Arg327=) rs773492223
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter) rs773492223
NM_000046.5(ARSB):c.980G>A (p.Arg327Gln)
NM_000046.5(ARSB):c.982G>A (p.Gly328Arg)
NM_000046.5(ARSB):c.982G>C (p.Gly328Arg) rs748454316
NM_000046.5(ARSB):c.995T>G (p.Val332Gly) rs1554079312
NM_000046.5(ARSB):c.999A>G (p.Ala333=) rs1580000383
NM_000046.5(ARSB):c.99G>A (p.Ala33=)
NM_000046.5(ARSB):c.9G>A (p.Pro3=)
NM_000046.5(ARSB):c.9G>C (p.Pro3=) rs1289000597
Single allele

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