NM_030930.4(UNC93B1):c.1557C>G (p.Arg519=)
|
rs7149
|
0.34645
|
NM_030930.4(UNC93B1):c.1206G>C (p.Pro402=)
|
rs112284414
|
0.02461
|
NM_030930.4(UNC93B1):c.1163C>T (p.Ala388Val)
|
rs11543208
|
0.01149
|
NM_030930.4(UNC93B1):c.1155C>T (p.Gly385=)
|
rs200930438
|
0.00844
|
NM_030930.4(UNC93B1):c.1724C>A (p.Pro575His)
|
rs535779712
|
0.00599
|
NM_030930.4(UNC93B1):c.1725C>G (p.Pro575=)
|
rs568350079
|
0.00509
|
NM_030930.4(UNC93B1):c.907-5C>T
|
rs144979304
|
0.00332
|
NM_030930.4(UNC93B1):c.1772G>A (p.Gly591Glu)
|
rs531159136
|
0.00330
|
NM_030930.4(UNC93B1):c.393-10C>T
|
rs117183629
|
0.00314
|
NM_030930.4(UNC93B1):c.626C>T (p.Pro209Leu)
|
rs144399212
|
0.00265
|
NM_030930.4(UNC93B1):c.385C>A (p.Leu129Ile)
|
rs146593182
|
0.00262
|
NM_030930.4(UNC93B1):c.1453G>A (p.Val485Met)
|
rs199824078
|
0.00237
|
NM_030930.4(UNC93B1):c.1629G>A (p.Glu543=)
|
rs576491436
|
0.00205
|
NM_030930.4(UNC93B1):c.239-6C>T
|
rs182093266
|
0.00183
|
NM_030930.4(UNC93B1):c.1701A>G (p.Ala567=)
|
rs2375180
|
0.00123
|
NM_030930.4(UNC93B1):c.1720G>C (p.Glu574Gln)
|
rs567070908
|
0.00101
|
NM_030930.4(UNC93B1):c.96+10G>A
|
rs188940236
|
0.00090
|
NM_030930.4(UNC93B1):c.392+11C>T
|
rs201729211
|
0.00064
|
NM_030930.4(UNC93B1):c.444C>T (p.Leu148=)
|
rs368427313
|
0.00063
|
NM_030930.4(UNC93B1):c.1210C>T (p.Pro404Ser)
|
rs377021545
|
0.00058
|
NM_030930.4(UNC93B1):c.1779G>A (p.Gly593=)
|
rs2375183
|
0.00056
|
NM_030930.4(UNC93B1):c.782-16C>A
|
rs373991204
|
0.00048
|
NM_030930.4(UNC93B1):c.1560G>C (p.Arg520=)
|
rs555389039
|
0.00043
|
NM_030930.4(UNC93B1):c.642G>A (p.Ala214=)
|
rs201137048
|
0.00038
|
NM_030930.4(UNC93B1):c.1090-6C>A
|
rs1168664658
|
0.00034
|
NM_030930.4(UNC93B1):c.491C>T (p.Ser164Leu)
|
rs201765730
|
0.00029
|
NM_030930.4(UNC93B1):c.555-17T>C
|
rs181702078
|
0.00026
|
NM_030930.4(UNC93B1):c.1713T>C (p.Pro571=)
|
rs565846179
|
0.00025
|
NM_030930.4(UNC93B1):c.1777G>A (p.Gly593Arg)
|
rs964738111
|
0.00024
|
NM_030930.4(UNC93B1):c.1635C>A (p.Asp545Glu)
|
rs1197827039
|
0.00022
|
NM_030930.4(UNC93B1):c.1200A>G (p.Pro400=)
|
rs774307547
|
0.00020
|
NM_030930.4(UNC93B1):c.1449C>T (p.Phe483=)
|
rs371738908
|
0.00019
|
NM_030930.4(UNC93B1):c.1183C>T (p.Leu395=)
|
rs776764518
|
0.00016
|
NM_030930.4(UNC93B1):c.1307A>G (p.Tyr436Cys)
|
rs3175471
|
0.00015
|
NM_030930.4(UNC93B1):c.1785G>C (p.Glu595Asp)
|
rs761443098
|
0.00013
|
NM_030930.4(UNC93B1):c.96+6C>A
|
rs1046173869
|
0.00012
|
NM_030930.4(UNC93B1):c.1125G>T (p.Leu375=)
|
rs980717452
|
0.00011
|
NM_030930.4(UNC93B1):c.1661G>A (p.Gly554Asp)
|
rs2375179
|
0.00011
|
NM_030930.4(UNC93B1):c.1315G>A (p.Ala439Thr)
|
rs765439696
|
0.00009
|
NM_030930.4(UNC93B1):c.1384G>A (p.Glu462Lys)
|
rs17422120
|
0.00009
|
NM_030930.4(UNC93B1):c.1594C>A (p.Pro532Thr)
|
rs543443741
|
0.00009
|
NM_030930.4(UNC93B1):c.1703G>A (p.Gly568Glu)
|
rs2375181
|
0.00008
|
NM_030930.4(UNC93B1):c.666C>T (p.Ala222=)
|
rs772782644
|
0.00008
|
NM_030930.4(UNC93B1):c.1483-8dup
|
rs1192596291
|
0.00007
|
NM_030930.4(UNC93B1):c.1715G>T (p.Gly572Val)
|
rs1458428961
|
0.00007
|
NM_030930.4(UNC93B1):c.1205C>T (p.Pro402Leu)
|
rs1304888907
|
0.00006
|
NM_030930.4(UNC93B1):c.1208T>C (p.Val403Ala)
|
rs779514796
|
0.00006
|
NM_030930.4(UNC93B1):c.424G>A (p.Ala142Thr)
|
rs190159924
|
0.00006
|
NM_030930.4(UNC93B1):c.697G>A (p.Ala233Thr)
|
rs527745192
|
0.00006
|
NM_030930.4(UNC93B1):c.1106C>T (p.Ser369Leu)
|
rs757757696
|
0.00005
|
NM_030930.4(UNC93B1):c.1137C>T (p.Leu379=)
|
rs764421337
|
0.00004
|
NM_030930.4(UNC93B1):c.1138G>A (p.Val380Met)
|
rs763186957
|
0.00004
|
NM_030930.4(UNC93B1):c.1338T>C (p.Ser446=)
|
rs755192561
|
0.00004
|
NM_030930.4(UNC93B1):c.1363+8T>C
|
rs1274107709
|
0.00004
|
NM_030930.4(UNC93B1):c.1482+16G>T
|
rs369488563
|
0.00004
|
NM_030930.4(UNC93B1):c.1492G>A (p.Ala498Thr)
|
rs755301152
|
0.00004
|
NM_030930.4(UNC93B1):c.1651G>A (p.Asp551Asn)
|
rs1308430306
|
0.00004
|
NM_030930.4(UNC93B1):c.1699G>A (p.Ala567Thr)
|
rs4014599
|
0.00004
|
NM_030930.4(UNC93B1):c.781+19T>C
|
rs376118889
|
0.00004
|
NM_030930.4(UNC93B1):c.1071C>T (p.Ala357=)
|
rs796106217
|
0.00003
|
NM_030930.4(UNC93B1):c.1383C>T (p.Tyr461=)
|
rs893814016
|
0.00003
|
NM_030930.4(UNC93B1):c.1742G>T (p.Arg581Leu)
|
rs754871549
|
0.00003
|
NM_030930.4(UNC93B1):c.1773A>G (p.Gly591=)
|
rs4014578
|
0.00003
|
NM_030930.4(UNC93B1):c.667A>G (p.Ile223Val)
|
rs377418903
|
0.00003
|
NM_030930.4(UNC93B1):c.702C>T (p.Cys234=)
|
rs772974041
|
0.00003
|
NM_030930.4(UNC93B1):c.87C>T (p.Pro29=)
|
rs937751489
|
0.00003
|
NM_030930.4(UNC93B1):c.949A>G (p.Ile317Val)
|
rs1000119825
|
0.00003
|
NM_030930.4(UNC93B1):c.1099G>A (p.Val367Met)
|
rs1251067819
|
0.00002
|
NM_030930.4(UNC93B1):c.1101G>A (p.Val367=)
|
rs1194951140
|
0.00002
|
NM_030930.4(UNC93B1):c.1215G>C (p.Leu405=)
|
rs1055846
|
0.00002
|
NM_030930.4(UNC93B1):c.1363+4A>C
|
rs774126313
|
0.00002
|
NM_030930.4(UNC93B1):c.1477A>G (p.Met493Val)
|
rs1349985676
|
0.00002
|
NM_030930.4(UNC93B1):c.1717C>G (p.Pro573Ala)
|
rs773995088
|
0.00002
|
NM_030930.4(UNC93B1):c.1726G>C (p.Ala576Pro)
|
rs1330076422
|
0.00002
|
NM_030930.4(UNC93B1):c.239-8G>C
|
rs780105695
|
0.00002
|
NM_030930.4(UNC93B1):c.348C>T (p.Asn116=)
|
rs889626957
|
0.00002
|
NM_030930.4(UNC93B1):c.404C>T (p.Thr135Met)
|
rs769871051
|
0.00002
|
NM_030930.4(UNC93B1):c.423C>T (p.Leu141=)
|
rs181167380
|
0.00002
|
NM_030930.4(UNC93B1):c.75C>A (p.Val25=)
|
rs1354326862
|
0.00002
|
NM_030930.4(UNC93B1):c.781+7C>T
|
rs756037451
|
0.00002
|
NM_030930.4(UNC93B1):c.1084G>A (p.Ala362Thr)
|
rs1429067086
|
0.00001
|
NM_030930.4(UNC93B1):c.1089+20G>A
|
rs1347456889
|
0.00001
|
NM_030930.4(UNC93B1):c.1095T>C (p.Tyr365=)
|
rs1443845527
|
0.00001
|
NM_030930.4(UNC93B1):c.1099G>C (p.Val367Leu)
|
rs1251067819
|
0.00001
|
NM_030930.4(UNC93B1):c.1121G>A (p.Arg374Gln)
|
rs1346342774
|
0.00001
|
NM_030930.4(UNC93B1):c.1156G>A (p.Ala386Thr)
|
rs765367653
|
0.00001
|
NM_030930.4(UNC93B1):c.1185G>A (p.Leu395=)
|
rs1030781708
|
0.00001
|
NM_030930.4(UNC93B1):c.1242G>C (p.Leu414=)
|
rs1259991700
|
0.00001
|
NM_030930.4(UNC93B1):c.1279C>T (p.Arg427Trp)
|
rs778145589
|
0.00001
|
NM_030930.4(UNC93B1):c.1341C>T (p.Ala447=)
|
rs1250680725
|
0.00001
|
NM_030930.4(UNC93B1):c.1350G>T (p.Lys450Asn)
|
rs1134108
|
0.00001
|
NM_030930.4(UNC93B1):c.1364-6C>G
|
rs755175158
|
0.00001
|
NM_030930.4(UNC93B1):c.1364C>T (p.Thr455Ile)
|
rs754049416
|
0.00001
|
NM_030930.4(UNC93B1):c.1466C>T (p.Ser489Leu)
|
rs765034492
|
0.00001
|
NM_030930.4(UNC93B1):c.1578del (p.Gln526fs)
|
rs1171666833
|
0.00001
|
NM_030930.4(UNC93B1):c.1675G>C (p.Gly559Arg)
|
rs1175158610
|
0.00001
|
NM_030930.4(UNC93B1):c.1729G>A (p.Gly577Arg)
|
rs1272850443
|
0.00001
|
NM_030930.4(UNC93B1):c.1747T>C (p.Cys583Arg)
|
rs980602367
|
0.00001
|
NM_030930.4(UNC93B1):c.1791G>C (p.Gln597His)
|
rs1245329512
|
0.00001
|
NM_030930.4(UNC93B1):c.1A>G (p.Met1Val)
|
rs1857094590
|
0.00001
|
NM_030930.4(UNC93B1):c.243C>A (p.Leu81=)
|
rs751477522
|
0.00001
|
NM_030930.4(UNC93B1):c.392+7G>A
|
rs1191167573
|
0.00001
|
NM_030930.4(UNC93B1):c.393-4G>A
|
rs775653744
|
0.00001
|
NM_030930.4(UNC93B1):c.415A>T (p.Met139Leu)
|
rs776563052
|
0.00001
|
NM_030930.4(UNC93B1):c.438C>T (p.Tyr146=)
|
rs377018744
|
0.00001
|
NM_030930.4(UNC93B1):c.470G>A (p.Arg157His)
|
rs751962281
|
0.00001
|
NM_030930.4(UNC93B1):c.479C>T (p.Thr160Met)
|
rs775706711
|
0.00001
|
NM_030930.4(UNC93B1):c.554+9G>C
|
rs769608897
|
0.00001
|
NM_030930.4(UNC93B1):c.618G>A (p.Gln206=)
|
rs1435279681
|
0.00001
|
NM_030930.4(UNC93B1):c.636C>G (p.Ser212=)
|
rs1405982265
|
0.00001
|
NM_030930.4(UNC93B1):c.639C>T (p.His213=)
|
rs576190829
|
0.00001
|
NM_030930.4(UNC93B1):c.640G>A (p.Ala214Thr)
|
rs1304010328
|
0.00001
|
NM_030930.4(UNC93B1):c.645C>T (p.Pro215=)
|
rs964204752
|
0.00001
|
NM_030930.4(UNC93B1):c.654G>A (p.Leu218=)
|
rs562832097
|
0.00001
|
NM_030930.4(UNC93B1):c.696C>T (p.Phe232=)
|
rs766090062
|
0.00001
|
NM_030930.4(UNC93B1):c.741G>T (p.Leu247=)
|
rs768162221
|
0.00001
|
NM_030930.4(UNC93B1):c.758C>T (p.Thr253Met)
|
rs747214914
|
0.00001
|
NM_030930.4(UNC93B1):c.759G>A (p.Thr253=)
|
rs1342020868
|
0.00001
|
NM_030930.4(UNC93B1):c.862G>A (p.Val288Met)
|
rs3179926
|
0.00001
|
NM_030930.4(UNC93B1):c.871G>A (p.Val291Met)
|
rs1486444865
|
0.00001
|
NM_030930.4(UNC93B1):c.885G>T (p.Val295=)
|
rs758121352
|
0.00001
|
NM_030930.4(UNC93B1):c.904C>G (p.Leu302Val)
|
rs1421037162
|
0.00001
|
NM_030930.4(UNC93B1):c.907G>A (p.Val303Met)
|
rs1032805418
|
0.00001
|
NM_030930.4(UNC93B1):c.923G>C (p.Gly308Ala)
|
rs1442000007
|
0.00001
|
NM_030930.4(UNC93B1):c.958C>T (p.Arg320Cys)
|
rs1565124797
|
0.00001
|
NM_030930.4(UNC93B1):c.96+3G>A
|
rs1271318369
|
0.00001
|
NM_030930.4(UNC93B1):c.96+7G>C
|
rs1168754436
|
0.00001
|
NM_030930.4(UNC93B1):c.998A>G (p.Lys333Arg)
|
rs763133366
|
0.00001
|
NC_000011.9:g.(?_67758997)_(67759348_?)dup
|
|
|
NC_000011.9:g.(?_67758997)_(67761285_?)dup
|
|
|
NC_000011.9:g.(?_67759017)_(67761285_?)dup
|
|
|
NC_000011.9:g.(?_67761127)_(67761285_?)dup
|
|
|
NM_030930.4(UNC93B1):c.1008T>A (p.Arg336=)
|
|
|
NM_030930.4(UNC93B1):c.1014C>T (p.Tyr338=)
|
|
|
NM_030930.4(UNC93B1):c.1038_1041del (p.Phe346fs)
|
rs759883057
|
|
NM_030930.4(UNC93B1):c.1062_1064dup (p.Leu355dup)
|
rs1856951642
|
|
NM_030930.4(UNC93B1):c.1078G>T (p.Gly360Cys)
|
rs769284451
|
|
NM_030930.4(UNC93B1):c.1083C>T (p.Ile361=)
|
|
|
NM_030930.4(UNC93B1):c.1089G>A (p.Leu363=)
|
|
|
NM_030930.4(UNC93B1):c.1090-10dup
|
rs760132599
|
|
NM_030930.4(UNC93B1):c.1090-18C>T
|
|
|
NM_030930.4(UNC93B1):c.1090-4G>A
|
|
|
NM_030930.4(UNC93B1):c.1090-5C>A
|
rs755512821
|
|
NM_030930.4(UNC93B1):c.1090-5C>T
|
|
|
NM_030930.4(UNC93B1):c.1092C>T (p.Gly364=)
|
|
|
NM_030930.4(UNC93B1):c.1123C>G (p.Leu375Val)
|
rs1856935745
|
|
NM_030930.4(UNC93B1):c.1134C>T (p.Leu378=)
|
|
|
NM_030930.4(UNC93B1):c.1152_1168del (p.Gly385fs)
|
rs2134359450
|
|
NM_030930.4(UNC93B1):c.1155C>G (p.Gly385=)
|
|
|
NM_030930.4(UNC93B1):c.1165G>A (p.Ala389Thr)
|
|
|
NM_030930.4(UNC93B1):c.1172T>A (p.Leu391His)
|
rs2134359442
|
|
NM_030930.4(UNC93B1):c.1173C>A (p.Leu391=)
|
rs1292334817
|
|
NM_030930.4(UNC93B1):c.1189C>T (p.Leu397=)
|
|
|
NM_030930.4(UNC93B1):c.1191G>C (p.Leu397=)
|
rs1565124268
|
|
NM_030930.4(UNC93B1):c.1201C>T (p.Arg401Cys)
|
rs1590759976
|
|
NM_030930.4(UNC93B1):c.1202G>A (p.Arg401His)
|
|
|
NM_030930.4(UNC93B1):c.1205C>G (p.Pro402Arg)
|
|
|
NM_030930.4(UNC93B1):c.1206G>A (p.Pro402=)
|
rs112284414
|
|
NM_030930.4(UNC93B1):c.1207G>C (p.Val403Leu)
|
rs1374321962
|
|
NM_030930.4(UNC93B1):c.1209G>A (p.Val403=)
|
|
|
NM_030930.4(UNC93B1):c.1215_1216delinsCA (p.Val406Met)
|
rs1856933346
|
|
NM_030930.4(UNC93B1):c.1221C>T (p.Ala407=)
|
rs12660
|
|
NM_030930.4(UNC93B1):c.1228G>A (p.Gly410Arg)
|
rs1163474179
|
|
NM_030930.4(UNC93B1):c.1250T>C (p.Phe417Ser)
|
|
|
NM_030930.4(UNC93B1):c.1260T>C (p.Phe420=)
|
|
|
NM_030930.4(UNC93B1):c.1267G>A (p.Ala423Thr)
|
|
|
NM_030930.4(UNC93B1):c.1282G>A (p.Val428Ile)
|
rs1856931148
|
|
NM_030930.4(UNC93B1):c.1287G>A (p.Leu429=)
|
rs2134359180
|
|
NM_030930.4(UNC93B1):c.1295G>C (p.Ser432Thr)
|
rs1856931003
|
|
NM_030930.4(UNC93B1):c.1302C>T (p.Ile434=)
|
rs1287097253
|
|
NM_030930.4(UNC93B1):c.1303C>A (p.Leu435Ile)
|
rs1454865897
|
|
NM_030930.4(UNC93B1):c.1345_1363+52del
|
|
|
NM_030930.4(UNC93B1):c.1363+18_1363+19insTAT
|
|
|
NM_030930.4(UNC93B1):c.1363+19A>C
|
rs1380377788
|
|
NM_030930.4(UNC93B1):c.1363+19A>T
|
|
|
NM_030930.4(UNC93B1):c.1363+7A>G
|
rs2134359044
|
|
NM_030930.4(UNC93B1):c.1373G>A (p.Gly458Glu)
|
rs1856887625
|
|
NM_030930.4(UNC93B1):c.1373G>C (p.Gly458Ala)
|
|
|
NM_030930.4(UNC93B1):c.1404C>T (p.Asp468=)
|
|
|
NM_030930.4(UNC93B1):c.1448T>C (p.Phe483Ser)
|
|
|
NM_030930.4(UNC93B1):c.1452C>A (p.Thr484=)
|
rs762916919
|
|
NM_030930.4(UNC93B1):c.1452C>T (p.Thr484=)
|
rs762916919
|
|
NM_030930.4(UNC93B1):c.1459C>T (p.Leu487=)
|
|
|
NM_030930.4(UNC93B1):c.1462G>A (p.Gly488Ser)
|
|
|
NM_030930.4(UNC93B1):c.1467G>A (p.Ser489=)
|
rs201959670
|
|
NM_030930.4(UNC93B1):c.1482+15G>A
|
|
|
NM_030930.4(UNC93B1):c.1482+2T>A
|
rs1590758630
|
|
NM_030930.4(UNC93B1):c.1483-12C>A
|
|
|
NM_030930.4(UNC93B1):c.1483-14C>T
|
|
|
NM_030930.4(UNC93B1):c.1483-16C>A
|
|
|
NM_030930.4(UNC93B1):c.1488G>T (p.Lys496Asn)
|
rs1192335263
|
|
NM_030930.4(UNC93B1):c.1495G>A (p.Val499Met)
|
rs4014596
|
|
NM_030930.4(UNC93B1):c.1498C>T (p.Leu500=)
|
rs1235498910
|
|
NM_030930.4(UNC93B1):c.1504G>T (p.Val502Leu)
|
rs1328717352
|
|
NM_030930.4(UNC93B1):c.1518G>A (p.Ala506=)
|
rs3953720
|
|
NM_030930.4(UNC93B1):c.1518G>T (p.Ala506=)
|
rs3953720
|
|
NM_030930.4(UNC93B1):c.1526T>A (p.Val509Asp)
|
rs1856848591
|
|
NM_030930.4(UNC93B1):c.1557_1561del (p.Val522fs)
|
rs1010114944
|
|
NM_030930.4(UNC93B1):c.1563C>G (p.Gly521=)
|
rs1856847629
|
|
NM_030930.4(UNC93B1):c.1563C>T (p.Gly521=)
|
|
|
NM_030930.4(UNC93B1):c.1572G>T (p.Pro524=)
|
|
|
NM_030930.4(UNC93B1):c.1574_1575delinsCT (p.Arg525Pro)
|
|
|
NM_030930.4(UNC93B1):c.1578G>A (p.Gln526=)
|
|
|
NM_030930.4(UNC93B1):c.1596C>G (p.Pro532=)
|
|
|
NM_030930.4(UNC93B1):c.1605G>A (p.Lys535=)
|
|
|
NM_030930.4(UNC93B1):c.1611C>T (p.Arg537=)
|
|
|
NM_030930.4(UNC93B1):c.1626GGA[2] (p.Glu544del)
|
rs1269321676
|
|
NM_030930.4(UNC93B1):c.1633_1634delinsTT (p.Asp545Phe)
|
rs1856845788
|
|
NM_030930.4(UNC93B1):c.1636A>G (p.Asn546Asp)
|
rs1000291135
|
|
NM_030930.4(UNC93B1):c.1640C>T (p.Ser547Leu)
|
rs1856845594
|
|
NM_030930.4(UNC93B1):c.1647G>T (p.Glu549Asp)
|
rs1372132126
|
|
NM_030930.4(UNC93B1):c.1656G>C (p.Ala552=)
|
|
|
NM_030930.4(UNC93B1):c.1657G>A (p.Glu553Lys)
|
rs1433957500
|
|
NM_030930.4(UNC93B1):c.1663G>A (p.Glu555Lys)
|
rs1385511565
|
|
NM_030930.4(UNC93B1):c.1709G>A (p.Arg570Lys)
|
rs2134354118
|
|
NM_030930.4(UNC93B1):c.1724_1725delinsAG (p.Pro575Gln)
|
rs1554984685
|
|
NM_030930.4(UNC93B1):c.1725C>T (p.Pro575=)
|
rs568350079
|
|
NM_030930.4(UNC93B1):c.1726G>A (p.Ala576Thr)
|
rs1330076422
|
|
NM_030930.4(UNC93B1):c.1733T>G (p.Leu578Arg)
|
rs1402199169
|
|
NM_030930.4(UNC93B1):c.1735G>C (p.Gly579Arg)
|
rs1332464949
|
|
NM_030930.4(UNC93B1):c.1745C>T (p.Pro582Leu)
|
|
|
NM_030930.4(UNC93B1):c.1768G>A (p.Gly590Arg)
|
rs2375182
|
|
NM_030930.4(UNC93B1):c.1768G>C (p.Gly590Arg)
|
rs2375182
|
|
NM_030930.4(UNC93B1):c.1768G>T (p.Gly590Trp)
|
rs2375182
|
|
NM_030930.4(UNC93B1):c.1772del (p.Gly591fs)
|
rs1288924599
|
|
NM_030930.4(UNC93B1):c.1792T>G (p.Ter598Gly)
|
rs1590757014
|
|
NM_030930.4(UNC93B1):c.21C>A (p.Leu7=)
|
|
|
NM_030930.4(UNC93B1):c.239-17C>G
|
|
|
NM_030930.4(UNC93B1):c.239-20G>T
|
rs1333286700
|
|
NM_030930.4(UNC93B1):c.239-9T>G
|
|
|
NM_030930.4(UNC93B1):c.252G>A (p.Met84Ile)
|
rs1857074389
|
|
NM_030930.4(UNC93B1):c.261_262delinsAA (p.Leu88Met)
|
|
|
NM_030930.4(UNC93B1):c.27G>C (p.Pro9=)
|
rs1857094115
|
|
NM_030930.4(UNC93B1):c.317A>T (p.Asp106Val)
|
|
|
NM_030930.4(UNC93B1):c.323A>C (p.Asp108Ala)
|
rs2134367623
|
|
NM_030930.4(UNC93B1):c.33G>C (p.Ala11=)
|
rs1407855614
|
|
NM_030930.4(UNC93B1):c.341_351del (p.Gly114fs)
|
|
|
NM_030930.4(UNC93B1):c.343A>G (p.Ile115Val)
|
|
|
NM_030930.4(UNC93B1):c.382G>T (p.Val128Leu)
|
rs780157196
|
|
NM_030930.4(UNC93B1):c.390C>T (p.Ile130=)
|
|
|
NM_030930.4(UNC93B1):c.392+8C>T
|
|
|
NM_030930.4(UNC93B1):c.393-11A>G
|
|
|
NM_030930.4(UNC93B1):c.393-13C>T
|
|
|
NM_030930.4(UNC93B1):c.393-14C>T
|
|
|
NM_030930.4(UNC93B1):c.393G>A (p.Arg131=)
|
|
|
NM_030930.4(UNC93B1):c.405G>A (p.Thr135=)
|
|
|
NM_030930.4(UNC93B1):c.409T>C (p.Trp137Arg)
|
rs1554985993
|
|
NM_030930.4(UNC93B1):c.42G>C (p.Ala14=)
|
|
|
NM_030930.4(UNC93B1):c.439G>T (p.Ala147Ser)
|
rs372807360
|
|
NM_030930.4(UNC93B1):c.474C>T (p.Tyr158=)
|
rs764551107
|
|
NM_030930.4(UNC93B1):c.480G>A (p.Thr160=)
|
|
|
NM_030930.4(UNC93B1):c.480G>T (p.Thr160=)
|
|
|
NM_030930.4(UNC93B1):c.48G>T (p.Pro16=)
|
|
|
NM_030930.4(UNC93B1):c.492G>A (p.Ser164=)
|
|
|
NM_030930.4(UNC93B1):c.4G>C (p.Glu2Gln)
|
rs1005812121
|
|
NM_030930.4(UNC93B1):c.516C>T (p.Ile172=)
|
|
|
NM_030930.4(UNC93B1):c.532T>G (p.Ser178Ala)
|
rs1857008782
|
|
NM_030930.4(UNC93B1):c.547A>G (p.Ile183Val)
|
|
|
NM_030930.4(UNC93B1):c.554+3G>A
|
rs2134364340
|
|
NM_030930.4(UNC93B1):c.554+9G>A
|
|
|
NM_030930.4(UNC93B1):c.555-6G>T
|
|
|
NM_030930.4(UNC93B1):c.558G>A (p.Met186Ile)
|
|
|
NM_030930.4(UNC93B1):c.561G>A (p.Ala187=)
|
|
|
NM_030930.4(UNC93B1):c.561G>T (p.Ala187=)
|
|
|
NM_030930.4(UNC93B1):c.572A>G (p.His191Arg)
|
rs750569131
|
|
NM_030930.4(UNC93B1):c.573T>C (p.His191=)
|
rs1316157143
|
|
NM_030930.4(UNC93B1):c.586T>C (p.Tyr196His)
|
rs1590762298
|
|
NM_030930.4(UNC93B1):c.595C>A (p.Gln199Lys)
|
|
|
NM_030930.4(UNC93B1):c.599A>G (p.Asp200Gly)
|
|
|
NM_030930.4(UNC93B1):c.600T>C (p.Asp200=)
|
|
|
NM_030930.4(UNC93B1):c.604C>A (p.Gln202Lys)
|
|
|
NM_030930.4(UNC93B1):c.618G>T (p.Gln206His)
|
rs1435279681
|
|
NM_030930.4(UNC93B1):c.620G>A (p.Arg207Gln)
|
|
|
NM_030930.4(UNC93B1):c.627G>A (p.Pro209=)
|
|
|
NM_030930.4(UNC93B1):c.628C>T (p.Arg210Trp)
|
|
|
NM_030930.4(UNC93B1):c.640G>C (p.Ala214Pro)
|
rs1304010328
|
|
NM_030930.4(UNC93B1):c.641C>T (p.Ala214Val)
|
|
|
NM_030930.4(UNC93B1):c.657C>T (p.Val219=)
|
rs1477540309
|
|
NM_030930.4(UNC93B1):c.663A>G (p.Gln221=)
|
rs2134363790
|
|
NM_030930.4(UNC93B1):c.664G>A (p.Ala222Thr)
|
rs766177122
|
|
NM_030930.4(UNC93B1):c.665C>T (p.Ala222Val)
|
rs751449631
|
|
NM_030930.4(UNC93B1):c.668_671del (p.Ile223fs)
|
|
|
NM_030930.4(UNC93B1):c.67C>T (p.Leu23Phe)
|
|
|
NM_030930.4(UNC93B1):c.687+12G>A
|
|
|
NM_030930.4(UNC93B1):c.687+20T>C
|
|
|
NM_030930.4(UNC93B1):c.688-14C>G
|
|
|
NM_030930.4(UNC93B1):c.69C>A (p.Leu23=)
|
|
|
NM_030930.4(UNC93B1):c.702C>A (p.Cys234Ter)
|
rs772974041
|
|
NM_030930.4(UNC93B1):c.727C>A (p.Leu243Met)
|
rs1193396536
|
|
NM_030930.4(UNC93B1):c.748C>A (p.Leu250Met)
|
rs758127182
|
|
NM_030930.4(UNC93B1):c.750G>C (p.Leu250=)
|
|
|
NM_030930.4(UNC93B1):c.771G>A (p.Val257=)
|
rs758434326
|
|
NM_030930.4(UNC93B1):c.777C>T (p.Ser259=)
|
|
|
NM_030930.4(UNC93B1):c.781+1G>A
|
|
|
NM_030930.4(UNC93B1):c.781+8C>T
|
rs2134362905
|
|
NM_030930.4(UNC93B1):c.781G>A (p.Gly261Ser)
|
rs780094017
|
|
NM_030930.4(UNC93B1):c.781G>C (p.Gly261Arg)
|
|
|
NM_030930.4(UNC93B1):c.782-14C>T
|
rs1310108344
|
|
NM_030930.4(UNC93B1):c.782-18C>T
|
|
|
NM_030930.4(UNC93B1):c.794A>G (p.His265Arg)
|
rs2134362309
|
|
NM_030930.4(UNC93B1):c.795C>T (p.His265=)
|
rs762508805
|
|
NM_030930.4(UNC93B1):c.797G>A (p.Gly266Glu)
|
|
|
NM_030930.4(UNC93B1):c.807C>T (p.Ser269=)
|
rs777240820
|
|
NM_030930.4(UNC93B1):c.818A>G (p.Lys273Arg)
|
rs1318077413
|
|
NM_030930.4(UNC93B1):c.829C>A (p.Arg277=)
|
rs2134362220
|
|
NM_030930.4(UNC93B1):c.82G>A (p.Gly28Arg)
|
|
|
NM_030930.4(UNC93B1):c.82G>C (p.Gly28Arg)
|
rs1168890624
|
|
NM_030930.4(UNC93B1):c.831G>A (p.Arg277=)
|
rs2134362209
|
|
NM_030930.4(UNC93B1):c.849A>C (p.Gly283=)
|
rs2134362169
|
|
NM_030930.4(UNC93B1):c.84G>C (p.Gly28=)
|
|
|
NM_030930.4(UNC93B1):c.852C>T (p.Asn284=)
|
|
|
NM_030930.4(UNC93B1):c.857T>C (p.Ile286Thr)
|
|
|
NM_030930.4(UNC93B1):c.87C>G (p.Pro29=)
|
rs937751489
|
|
NM_030930.4(UNC93B1):c.888dup (p.Phe297fs)
|
rs5792426
|
|
NM_030930.4(UNC93B1):c.906+10G>A
|
|
|
NM_030930.4(UNC93B1):c.906+3G>T
|
rs2134361983
|
|
NM_030930.4(UNC93B1):c.906+5G>A
|
|
|
NM_030930.4(UNC93B1):c.906+9C>T
|
|
|
NM_030930.4(UNC93B1):c.907-18C>G
|
|
|
NM_030930.4(UNC93B1):c.935G>C (p.Arg312Pro)
|
|
|
NM_030930.4(UNC93B1):c.936G>A (p.Arg312=)
|
rs2134360851
|
|
NM_030930.4(UNC93B1):c.96+15G>A
|
|
|
NM_030930.4(UNC93B1):c.987G>A (p.Gln329=)
|
|
|