NM_000046.5(ARSB):c.1072G>A (p.Val358Met)
|
rs1065757
|
0.34419
|
NM_000046.5(ARSB):c.1191G>A (p.Pro397=)
|
rs25413
|
0.27041
|
NM_000046.5(ARSB):c.1126G>A (p.Val376Met)
|
rs1071598
|
0.12316
|
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.1446A>G (p.Glu482=)
|
rs35714924
|
0.01223
|
NM_000046.5(ARSB):c.1068A>T (p.Thr356=)
|
rs16876029
|
0.00947
|
NM_000046.5(ARSB):c.317G>A (p.Arg106His)
|
rs150087888
|
0.00230
|
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.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.1337-3T>A
|
rs183651028
|
0.00066
|
NM_000046.5(ARSB):c.570A>G (p.Thr190=)
|
rs148138805
|
0.00061
|
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr)
|
rs146704780
|
0.00045
|
NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn)
|
rs200040980
|
0.00039
|
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)
|
rs118203943
|
0.00017
|
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.750A>G (p.Glu250=)
|
rs200985327
|
0.00015
|
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_000046.5(ARSB):c.1197C>T (p.Phe399=)
|
rs200793396
|
0.00012
|
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.1122C>T (p.Phe374=)
|
rs149886659
|
0.00009
|
NM_000046.5(ARSB):c.1258C>G (p.Pro420Ala)
|
rs769542268
|
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_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.658A>G (p.Ile220Val)
|
rs202130413
|
0.00005
|
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala)
|
rs749989641
|
0.00005
|
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.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.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.313-14T>A
|
rs764757378
|
0.00003
|
NM_000046.5(ARSB):c.401A>G (p.Lys134Arg)
|
rs371631385
|
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.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.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.478C>T (p.Arg160Ter)
|
rs1255777033
|
0.00002
|
NM_000046.5(ARSB):c.963G>A (p.Leu321=)
|
rs932761237
|
0.00002
|
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.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.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.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.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.313-12T>C
|
rs574816959
|
0.00001
|
NM_000046.5(ARSB):c.324T>C (p.Gly108=)
|
rs1024390842
|
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.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.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.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.898+7C>T
|
rs573613390
|
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
|
NC_000005.10:g.(?_78964406)_(78969202_?)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_000046.4(ARSB):c.-322dup
|
rs11424557
|
|
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.1033C>T (p.Arg345Trp)
|
|
|
NM_000046.5(ARSB):c.1036G>T (p.Glu346Ter)
|
rs1747989303
|
|
NM_000046.5(ARSB):c.1046A>T (p.His349Leu)
|
|
|
NM_000046.5(ARSB):c.1047C>T (p.His349=)
|
|
|
NM_000046.5(ARSB):c.1052C>T (p.Ser351Phe)
|
rs756671977
|
|
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.1081G>T (p.Ala361Ser)
|
|
|
NM_000046.5(ARSB):c.1089A>G (p.Gly363=)
|
|
|
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.1128G>A (p.Val376=)
|
|
|
NM_000046.5(ARSB):c.1130G>A (p.Trp377Ter)
|
rs1554079265
|
|
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+2T>A
|
rs781510986
|
|
NM_000046.5(ARSB):c.1142+7A>T
|
rs1308281232
|
|
NM_000046.5(ARSB):c.1143-16A>C
|
|
|
NM_000046.5(ARSB):c.1143-1G>T
|
|
|
NM_000046.5(ARSB):c.1143-8T>G
|
rs431905496
|
|
NM_000046.5(ARSB):c.1161C>A (p.Pro387=)
|
|
|
NM_000046.5(ARSB):c.1161C>T (p.Pro387=)
|
|
|
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.1190C>T (p.Pro397Leu)
|
|
|
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu)
|
rs200793396
|
|
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>G (p.Ser403Ter)
|
rs771296632
|
|
NM_000046.5(ARSB):c.1208C>T (p.Ser403Leu)
|
|
|
NM_000046.5(ARSB):c.1209A>G (p.Ser403=)
|
|
|
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+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>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.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.1272C>A (p.Ala424=)
|
rs2112619347
|
|
NM_000046.5(ARSB):c.1281A>G (p.Thr427=)
|
|
|
NM_000046.5(ARSB):c.1289A>G (p.His430Arg)
|
rs1171277553
|
|
NM_000046.5(ARSB):c.1292C>A (p.Ala431Asp)
|
rs1748937951
|
|
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter)
|
rs1355071930
|
|
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.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.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.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.1337-7T>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.1353C>T (p.Phe451=)
|
rs2112617431
|
|
NM_000046.5(ARSB):c.1356T>C (p.Pro452=)
|
|
|
NM_000046.5(ARSB):c.1368A>G (p.Gln456=)
|
|
|
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.1418G>A (p.Trp473Ter)
|
|
|
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.1458C>A (p.Asp486Glu)
|
|
|
NM_000046.5(ARSB):c.1466G>A (p.Arg489Lys)
|
rs1748894464
|
|
NM_000046.5(ARSB):c.1482C>A (p.Ile494=)
|
|
|
NM_000046.5(ARSB):c.1488A>T (p.Thr496=)
|
|
|
NM_000046.5(ARSB):c.1491G>C (p.Lys497Asn)
|
|
|
NM_000046.5(ARSB):c.1499C>T (p.Ser500Phe)
|
|
|
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.1521dup (p.His508fs)
|
|
|
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.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.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.1581G>C (p.Gly527=)
|
|
|
NM_000046.5(ARSB):c.1590C>A (p.Gly530=)
|
rs1580960941
|
|
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.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.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.336A>G (p.Gln112=)
|
|
|
NM_000046.5(ARSB):c.339A>C (p.Ile113=)
|
|
|
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.357C>T (p.Pro119=)
|
|
|
NM_000046.5(ARSB):c.359dup (p.Ser120fs)
|
|
|
NM_000046.5(ARSB):c.363T>C (p.Cys121=)
|
rs2112530329
|
|
NM_000046.5(ARSB):c.370C>T (p.Leu124=)
|
|
|
NM_000046.5(ARSB):c.376G>T (p.Glu126Ter)
|
|
|
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.390C>G (p.Pro130=)
|
|
|
NM_000046.5(ARSB):c.399A>G (p.Leu133=)
|
rs778723643
|
|
NM_000046.5(ARSB):c.403G>T (p.Glu135Ter)
|
|
|
NM_000046.5(ARSB):c.410G>A (p.Gly137Asp)
|
|
|
NM_000046.5(ARSB):c.417T>C (p.Thr139=)
|
|
|
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.438G>A (p.Trp146Ter)
|
rs757061042
|
|
NM_000046.5(ARSB):c.441C>G (p.His147Gln)
|
rs1752333074
|
|
NM_000046.5(ARSB):c.448A>G (p.Met150Val)
|
|
|
NM_000046.5(ARSB):c.468del (p.Pro157fs)
|
rs2112529559
|
|
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.492C>T (p.Thr164=)
|
rs2112529378
|
|
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.523T>C (p.Tyr175His)
|
|
|
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.532_533inv (p.His178Cys)
|
|
|
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.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.615A>G (p.Gly205=)
|
|
|
NM_000046.5(ARSB):c.625A>T (p.Met209Leu)
|
|
|
NM_000046.5(ARSB):c.654G>A (p.Arg218=)
|
rs2112513773
|
|
NM_000046.5(ARSB):c.657T>C (p.Ala219=)
|
|
|
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>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.707T>C (p.Leu236Pro)
|
rs118203940
|
|
NM_000046.5(ARSB):c.713T>A (p.Leu238His)
|
|
|
NM_000046.5(ARSB):c.715C>T (p.Gln239Ter)
|
|
|
NM_000046.5(ARSB):c.723G>T (p.Val241=)
|
rs199858121
|
|
NM_000046.5(ARSB):c.729_730delinsTT (p.Glu243_Pro244delinsAspSer)
|
rs2112484265
|
|
NM_000046.5(ARSB):c.744T>A (p.Pro248=)
|
|
|
NM_000046.5(ARSB):c.745G>T (p.Glu249Ter)
|
|
|
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.777A>G (p.Gln259=)
|
|
|
NM_000046.5(ARSB):c.789G>A (p.Arg263=)
|
rs2112483929
|
|
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.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.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.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+9G>C
|
|
|
NM_000046.5(ARSB):c.899-10T>C
|
|
|
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.904G>A (p.Gly302Arg)
|
rs779378413
|
|
NM_000046.5(ARSB):c.904_905inv (p.Gly302Pro)
|
|
|
NM_000046.5(ARSB):c.908G>A (p.Gly303Glu)
|
rs1408739927
|
|
NM_000046.5(ARSB):c.916_917del (p.Leu306fs)
|
|
|
NM_000046.5(ARSB):c.917T>C (p.Leu306Ser)
|
|
|
NM_000046.5(ARSB):c.921A>C (p.Ala307=)
|
rs2112212439
|
|
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.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.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.960C>G (p.Ser320Arg)
|
rs762614315
|
|
NM_000046.5(ARSB):c.962T>A (p.Leu321Gln)
|
|
|
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.999A>G (p.Ala333=)
|
rs1580000383
|
|