ClinVar Miner

List of variants in gene UBR1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 952
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HGVS dbSNP gnomAD frequency
NM_174916.3(UBR1):c.1912-94T>A rs7166596 0.98611
NM_174916.3(UBR1):c.4700+12A>G rs2054389 0.85593
NM_174916.3(UBR1):c.4369+124_4369+127dup rs34312632 0.85534
NM_174916.3(UBR1):c.862-18C>T rs4924704 0.85492
NM_174916.3(UBR1):c.2379+29G>T rs3736054 0.83957
NM_174916.3(UBR1):c.3510-186C>T rs4923955 0.82230
NM_174916.3(UBR1):c.2191-113G>A rs6493077 0.82217
NM_174916.3(UBR1):c.338+172G>T rs12905967 0.82116
NM_174916.3(UBR1):c.2088+63G>A rs3784265 0.80889
NM_174916.3(UBR1):c.*324A>G rs3803341 0.80251
NM_174916.3(UBR1):c.3210-205A>G rs1037990 0.79557
NM_174916.3(UBR1):c.4701-206G>A rs1972447 0.78539
NM_174916.3(UBR1):c.1669-200G>A rs7496079 0.52568
NM_174916.3(UBR1):c.3849-226G>A rs28494835 0.24359
NM_174916.3(UBR1):c.4757+79T>C rs3759792 0.23233
NM_174916.3(UBR1):c.5108+192G>A rs12914380 0.09852
NM_174916.3(UBR1):c.1183-39G>A rs78940367 0.07342
NM_174916.3(UBR1):c.*113G>A rs62020698 0.06222
NM_174916.3(UBR1):c.5205A>G (p.Gln1735=) rs16957277 0.05997
NM_174916.3(UBR1):c.4642A>G (p.Thr1548Ala) rs3917223 0.05189
NM_174916.3(UBR1):c.1282-42A>G rs2035169 0.04765
NM_174916.3(UBR1):c.2585-154T>C rs75465761 0.04338
NM_174916.3(UBR1):c.5108+191C>T rs139986398 0.04308
NM_174916.3(UBR1):c.2940+133A>C rs74009236 0.04092
NM_174916.3(UBR1):c.1668+208G>T rs28605464 0.03691
NM_174916.3(UBR1):c.3028-88C>T rs78688655 0.02853
NM_174916.3(UBR1):c.3997+160G>A rs76783611 0.02630
NM_174916.3(UBR1):c.2190+96A>T rs115199320 0.01988
NM_174916.3(UBR1):c.2695A>G (p.Ile899Val) rs35069201 0.01889
NM_174916.3(UBR1):c.4054-4C>G rs138963231 0.01282
NM_174916.3(UBR1):c.3492C>T (p.His1164=) rs34803922 0.01066
NM_174916.3(UBR1):c.1213A>G (p.Ser405Gly) rs77360687 0.00842
NM_174916.3(UBR1):c.529-42T>C rs146987997 0.00795
NM_174916.3(UBR1):c.4938C>T (p.Asn1646=) rs35996841 0.00625
NM_174916.3(UBR1):c.3791G>A (p.Gly1264Glu) rs139408969 0.00561
NM_174916.3(UBR1):c.4834A>G (p.Arg1612Gly) rs78948790 0.00551
NM_174916.3(UBR1):c.4144C>T (p.Leu1382=) rs16957294 0.00450
NM_174916.3(UBR1):c.3741T>A (p.Asn1247Lys) rs148375509 0.00411
NM_174916.3(UBR1):c.1787A>T (p.Lys596Met) rs34568456 0.00389
NM_174916.3(UBR1):c.2736A>G (p.Gln912=) rs145463591 0.00370
NM_174916.3(UBR1):c.243A>G (p.Glu81=) rs79304860 0.00351
NM_174916.3(UBR1):c.654G>T (p.Gln218His) rs139686505 0.00207
NM_174916.3(UBR1):c.4803T>C (p.Tyr1601=) rs140959617 0.00175
NM_174916.3(UBR1):c.3673G>T (p.Ala1225Ser) rs117347582 0.00131
NM_174916.3(UBR1):c.2585-4A>G rs200684905 0.00101
NM_174916.3(UBR1):c.5135G>A (p.Arg1712His) rs141828250 0.00099
NM_174916.3(UBR1):c.5202C>G (p.Ser1734Arg) rs139367236 0.00094
NM_174916.3(UBR1):c.4895C>T (p.Ala1632Val) rs141227308 0.00091
NM_174916.3(UBR1):c.985+16G>A rs199817804 0.00083
NM_174916.3(UBR1):c.3669A>G (p.Ala1223=) rs146271578 0.00078
NM_174916.3(UBR1):c.264G>A (p.Glu88=) rs142558660 0.00071
NM_174916.3(UBR1):c.1540-12T>A rs187981414 0.00054
NM_174916.3(UBR1):c.1911+19T>C rs377744150 0.00053
NM_174916.3(UBR1):c.3216A>G (p.Pro1072=) rs145695710 0.00053
NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met) rs142285781 0.00053
NM_174916.3(UBR1):c.2823T>C (p.Phe941=) rs149061186 0.00048
NM_174916.3(UBR1):c.4138C>T (p.Arg1380Cys) rs372200839 0.00039
NM_174916.3(UBR1):c.3351G>A (p.Ser1117=) rs373656330 0.00031
NM_174916.3(UBR1):c.2265T>C (p.Tyr755=) rs139564942 0.00029
NM_174916.3(UBR1):c.1065A>C (p.Leu355Phe) rs142798632 0.00026
NM_174916.3(UBR1):c.4044A>G (p.Gln1348=) rs141869423 0.00025
NM_174916.3(UBR1):c.2840-7A>G rs368036494 0.00024
NM_174916.3(UBR1):c.410G>A (p.Arg137His) rs201509699 0.00023
NM_174916.3(UBR1):c.2124G>A (p.Leu708=) rs139911360 0.00020
NM_174916.3(UBR1):c.3416-5A>G rs201656485 0.00019
NM_174916.3(UBR1):c.947G>A (p.Arg316His) rs147396426 0.00017
NM_174916.3(UBR1):c.3750T>C (p.His1250=) rs778759667 0.00015
NM_174916.3(UBR1):c.4077G>A (p.Met1359Ile) rs143022130 0.00015
NM_174916.3(UBR1):c.2595A>G (p.Pro865=) rs148066298 0.00014
NM_174916.3(UBR1):c.659+19C>T rs140373950 0.00014
NM_174916.3(UBR1):c.891A>G (p.Pro297=) rs564328078 0.00011
NM_174916.3(UBR1):c.2487A>G (p.Lys829=) rs112947825 0.00010
NM_174916.3(UBR1):c.3420C>T (p.Ala1140=) rs199757621 0.00010
NM_174916.3(UBR1):c.4369+18G>A rs375821662 0.00010
NM_174916.3(UBR1):c.2405A>G (p.Asn802Ser) rs374815480 0.00009
NM_174916.3(UBR1):c.3947G>A (p.Arg1316Gln) rs138510410 0.00009
NM_174916.3(UBR1):c.660-16del rs755087125 0.00009
NM_174916.3(UBR1):c.1803T>C (p.Ser601=) rs775002359 0.00008
NM_174916.3(UBR1):c.5109-8C>A rs372344407 0.00007
NM_174916.3(UBR1):c.1282-4G>A rs370354214 0.00006
NM_174916.3(UBR1):c.2678C>T (p.Thr893Ile) rs199513326 0.00006
NM_174916.3(UBR1):c.4320T>C (p.His1440=) rs199500128 0.00005
NM_174916.3(UBR1):c.1440-6C>T rs373310121 0.00004
NM_174916.3(UBR1):c.2023-19T>C rs944527630 0.00004
NM_174916.3(UBR1):c.2154C>T (p.Ala718=) rs757644708 0.00004
NM_174916.3(UBR1):c.2535+11del rs770434806 0.00004
NM_174916.3(UBR1):c.2739+16A>G rs143229730 0.00004
NM_174916.3(UBR1):c.5007-7C>T rs781234581 0.00004
NM_174916.3(UBR1):c.3003A>G (p.Gly1001=) rs777599292 0.00003
NM_174916.3(UBR1):c.3196A>G (p.Met1066Val) rs776583103 0.00003
NM_174916.3(UBR1):c.1144A>G (p.Met382Val) rs1275090232 0.00002
NM_174916.3(UBR1):c.1218T>C (p.Asp406=) rs137864901 0.00002
NM_174916.3(UBR1):c.1508G>A (p.Arg503Gln) rs774341055 0.00002
NM_174916.3(UBR1):c.1669-20G>A rs533524024 0.00002
NM_174916.3(UBR1):c.2433-10A>G rs747877617 0.00002
NM_174916.3(UBR1):c.2941-20G>A rs763137824 0.00002
NM_174916.3(UBR1):c.3455A>G (p.Tyr1152Cys) rs751554684 0.00002
NM_174916.3(UBR1):c.3975C>T (p.Cys1325=) rs772967897 0.00002
NM_174916.3(UBR1):c.4653C>T (p.Phe1551=) rs768574833 0.00002
NM_174916.3(UBR1):c.5092A>G (p.Thr1698Ala) rs748150323 0.00002
NM_174916.3(UBR1):c.534A>G (p.Ser178=) rs201083590 0.00002
NM_174916.3(UBR1):c.604G>A (p.Val202Ile) rs190360605 0.00002
NM_174916.3(UBR1):c.850G>C (p.Glu284Gln) rs747313563 0.00002
NM_174916.3(UBR1):c.1038G>A (p.Ser346=) rs201919661 0.00001
NM_174916.3(UBR1):c.1288C>T (p.His430Tyr) rs930246370 0.00001
NM_174916.3(UBR1):c.1296T>C (p.Ile432=) rs376576173 0.00001
NM_174916.3(UBR1):c.1326T>G (p.Thr442=) rs773008060 0.00001
NM_174916.3(UBR1):c.1539+20C>T rs748548391 0.00001
NM_174916.3(UBR1):c.1668+13T>C rs372109028 0.00001
NM_174916.3(UBR1):c.1688C>A (p.Ala563Asp) rs768686147 0.00001
NM_174916.3(UBR1):c.1761A>G (p.Gln587=) rs151310227 0.00001
NM_174916.3(UBR1):c.1810C>A (p.Leu604Ile) rs747081057 0.00001
NM_174916.3(UBR1):c.1893G>A (p.Leu631=) rs772839689 0.00001
NM_174916.3(UBR1):c.1911+7_1911+16del rs1321239472 0.00001
NM_174916.3(UBR1):c.2191-9A>G rs774644095 0.00001
NM_174916.3(UBR1):c.2409C>T (p.Val803=) rs1233193685 0.00001
NM_174916.3(UBR1):c.2550G>A (p.Gln850=) rs753907658 0.00001
NM_174916.3(UBR1):c.2679C>T (p.Thr893=) rs1158461089 0.00001
NM_174916.3(UBR1):c.2941-17T>G rs1168878323 0.00001
NM_174916.3(UBR1):c.339-6T>C rs1596136331 0.00001
NM_174916.3(UBR1):c.3708A>G (p.Ile1236Met) rs2032669345 0.00001
NM_174916.3(UBR1):c.3789A>G (p.Gln1263=) rs1290986170 0.00001
NM_174916.3(UBR1):c.3840T>C (p.Val1280=) rs372354876 0.00001
NM_174916.3(UBR1):c.3849-14T>C rs1474541079 0.00001
NM_174916.3(UBR1):c.4524T>A (p.Tyr1508Ter) rs374049779 0.00001
NM_174916.3(UBR1):c.4581A>G (p.Glu1527=) rs1195446217 0.00001
NM_174916.3(UBR1):c.4680T>C (p.Thr1560=) rs781629517 0.00001
NM_174916.3(UBR1):c.4847C>T (p.Ser1616Phe) rs764269850 0.00001
NM_174916.3(UBR1):c.4868A>G (p.His1623Arg) rs373539628 0.00001
NM_174916.3(UBR1):c.4946A>G (p.Glu1649Gly) rs1335908378 0.00001
NM_174916.3(UBR1):c.4968C>T (p.His1656=) rs374962237 0.00001
NM_174916.3(UBR1):c.5194G>T (p.Ala1732Ser) rs760804119 0.00001
NM_174916.3(UBR1):c.819G>A (p.Ala273=) rs371383925 0.00001
GRCh37/hg19 15q15.2(chr15:43295821-43357630)x3
GRCh37/hg19 15q15.2(chr15:43314157-43402377)x1
NC_000015.10:g.42970608del
NC_000015.9:g.(?_43237527)_(43367307_?)del
NC_000015.9:g.(?_43258452)_(43295241_?)del
NC_000015.9:g.(?_43262698)_(43262825_?)del
NC_000015.9:g.(?_43282208)_(43398220_?)del
NC_000015.9:g.(?_43294733)_(43299502_?)del
NC_000015.9:g.(?_43299257)_(43299502_?)del
NC_000015.9:g.(?_43299257)_(43299502_?)dup
NC_000015.9:g.(?_43307866)_(43320046_?)dup
NC_000015.9:g.(?_43313453)_(43340709_?)del
NC_000015.9:g.(?_43335393)_(43398220_?)del
NC_000015.9:g.(?_43351263)_(43398220_?)dup
NC_000015.9:g.(?_43351880)_(43398220_?)dup
NM_174916.3(UBR1):c.1029A>G (p.Glu343=)
NM_174916.3(UBR1):c.1033G>A (p.Asp345Asn)
NM_174916.3(UBR1):c.1035C>T (p.Asp345=)
NM_174916.3(UBR1):c.1037C>T (p.Ser346Leu)
NM_174916.3(UBR1):c.1047C>G (p.Pro349=)
NM_174916.3(UBR1):c.1047C>T (p.Pro349=)
NM_174916.3(UBR1):c.1056A>T (p.Ile352=)
NM_174916.3(UBR1):c.1059C>T (p.Ser353=)
NM_174916.3(UBR1):c.1071T>C (p.Leu357=)
NM_174916.3(UBR1):c.1080A>G (p.Ala360=)
NM_174916.3(UBR1):c.1083G>A (p.Lys361=)
NM_174916.3(UBR1):c.1093+12T>G
NM_174916.3(UBR1):c.1093+9A>G
NM_174916.3(UBR1):c.1094-10T>C
NM_174916.3(UBR1):c.1094-12A>G
NM_174916.3(UBR1):c.1094-13A>C
NM_174916.3(UBR1):c.1094-16C>G
NM_174916.3(UBR1):c.1094-4A>G
NM_174916.3(UBR1):c.1094-5T>C
NM_174916.3(UBR1):c.1094-6C>T
NM_174916.3(UBR1):c.1094-7T>C
NM_174916.3(UBR1):c.109A>G (p.Thr37Ala)
NM_174916.3(UBR1):c.1101T>A (p.Arg367=)
NM_174916.3(UBR1):c.1107C>A (p.Ile369=)
NM_174916.3(UBR1):c.1116A>G (p.Glu372=)
NM_174916.3(UBR1):c.1149A>G (p.Glu383=)
NM_174916.3(UBR1):c.1165G>A (p.Ala389Thr) rs200801495
NM_174916.3(UBR1):c.1167T>C (p.Ala389=)
NM_174916.3(UBR1):c.1177G>A (p.Val393Met) rs570440171
NM_174916.3(UBR1):c.1182+15A>G
NM_174916.3(UBR1):c.1182+7A>G
NM_174916.3(UBR1):c.1183-10T>C
NM_174916.3(UBR1):c.1183-11_1185del
NM_174916.3(UBR1):c.1183-4T>C
NM_174916.3(UBR1):c.1188T>A (p.Tyr396Ter)
NM_174916.3(UBR1):c.1192C>T (p.Gln398Ter)
NM_174916.3(UBR1):c.1194A>G (p.Gln398=)
NM_174916.3(UBR1):c.1212C>T (p.Ile404=)
NM_174916.3(UBR1):c.1228A>T (p.Arg410Ter)
NM_174916.3(UBR1):c.1248A>G (p.Ala416=)
NM_174916.3(UBR1):c.1251T>C (p.Leu417=)
NM_174916.3(UBR1):c.1254A>G (p.Ser418=)
NM_174916.3(UBR1):c.1258C>A (p.Gln420Lys) rs786205492
NM_174916.3(UBR1):c.1262T>C (p.Met421Thr)
NM_174916.3(UBR1):c.1281+16T>A
NM_174916.3(UBR1):c.1281+19T>A
NM_174916.3(UBR1):c.1281+7A>C
NM_174916.3(UBR1):c.1281+7A>G rs2141334392
NM_174916.3(UBR1):c.1281+8T>C
NM_174916.3(UBR1):c.1282-17C>A
NM_174916.3(UBR1):c.1282-17C>T
NM_174916.3(UBR1):c.1282-5C>T
NM_174916.3(UBR1):c.1282-8T>C
NM_174916.3(UBR1):c.1282-9A>G
NM_174916.3(UBR1):c.1286G>A (p.Arg429Gln)
NM_174916.3(UBR1):c.1305G>A (p.Gln435=)
NM_174916.3(UBR1):c.1320C>T (p.Val440=)
NM_174916.3(UBR1):c.1333del (p.Leu445fs)
NM_174916.3(UBR1):c.1335G>C (p.Leu445=)
NM_174916.3(UBR1):c.1338A>G (p.Leu446=)
NM_174916.3(UBR1):c.1353del (p.Glu451fs)
NM_174916.3(UBR1):c.1356C>T (p.Tyr452=)
NM_174916.3(UBR1):c.1365G>A (p.Arg455=)
NM_174916.3(UBR1):c.136T>C (p.Leu46=)
NM_174916.3(UBR1):c.1377C>T (p.Phe459=)
NM_174916.3(UBR1):c.1384C>T (p.Gln462Ter)
NM_174916.3(UBR1):c.1392T>C (p.Tyr464=)
NM_174916.3(UBR1):c.1401C>T (p.Asp467=)
NM_174916.3(UBR1):c.1405T>C (p.Leu469=)
NM_174916.3(UBR1):c.1417dup (p.Tyr473fs)
NM_174916.3(UBR1):c.1419T>C (p.Tyr473=)
NM_174916.3(UBR1):c.1434C>T (p.Asp478=)
NM_174916.3(UBR1):c.1437A>C (p.Leu479=)
NM_174916.3(UBR1):c.1439+11del
NM_174916.3(UBR1):c.1440-12T>C
NM_174916.3(UBR1):c.1440-13C>G
NM_174916.3(UBR1):c.1440-14del
NM_174916.3(UBR1):c.1440-17C>A
NM_174916.3(UBR1):c.1440-18T>A
NM_174916.3(UBR1):c.1440-22TCTT[2]
NM_174916.3(UBR1):c.1440-5G>A
NM_174916.3(UBR1):c.1440-8_1440-4del
NM_174916.3(UBR1):c.1444A>G (p.Ile482Val)
NM_174916.3(UBR1):c.1461C>T (p.Pro487=)
NM_174916.3(UBR1):c.1482A>G (p.Leu494=)
NM_174916.3(UBR1):c.1491G>A (p.Gln497=)
NM_174916.3(UBR1):c.1507C>T (p.Arg503Ter)
NM_174916.3(UBR1):c.1509A>G (p.Arg503=)
NM_174916.3(UBR1):c.1530C>T (p.Thr510=)
NM_174916.3(UBR1):c.1539+13T>C
NM_174916.3(UBR1):c.1539+17G>A
NM_174916.3(UBR1):c.1539+20C>A
NM_174916.3(UBR1):c.1539+20C>G
NM_174916.3(UBR1):c.155T>G (p.Phe52Cys)
NM_174916.3(UBR1):c.1572A>G (p.Gln524=)
NM_174916.3(UBR1):c.1593T>C (p.Asp531=)
NM_174916.3(UBR1):c.1615C>T (p.Gln539Ter)
NM_174916.3(UBR1):c.1623A>G (p.Gln541=)
NM_174916.3(UBR1):c.1653G>A (p.Glu551=)
NM_174916.3(UBR1):c.1663T>C (p.Cys555Arg)
NM_174916.3(UBR1):c.1668+11T>G
NM_174916.3(UBR1):c.1668+12T>G
NM_174916.3(UBR1):c.1668+14G>A
NM_174916.3(UBR1):c.1669-16C>T
NM_174916.3(UBR1):c.1669-17T>C
NM_174916.3(UBR1):c.1669-5C>G
NM_174916.3(UBR1):c.1669-5C>T
NM_174916.3(UBR1):c.1689T>C (p.Ala563=)
NM_174916.3(UBR1):c.1704C>T (p.His568=)
NM_174916.3(UBR1):c.1713G>A (p.Val571=)
NM_174916.3(UBR1):c.1740T>C (p.Ser580=)
NM_174916.3(UBR1):c.1749G>A (p.Lys583=)
NM_174916.3(UBR1):c.1758A>G (p.Val586=)
NM_174916.3(UBR1):c.1764G>A (p.Ser588=)
NM_174916.3(UBR1):c.1764G>C (p.Ser588=)
NM_174916.3(UBR1):c.1770A>G (p.Gly590=)
NM_174916.3(UBR1):c.1776T>C (p.Ser592=)
NM_174916.3(UBR1):c.1800A>G (p.Val600=)
NM_174916.3(UBR1):c.1849+17T>C
NM_174916.3(UBR1):c.1849+17del
NM_174916.3(UBR1):c.1849+19T>G
NM_174916.3(UBR1):c.1849+7G>A
NM_174916.3(UBR1):c.1850-15T>G
NM_174916.3(UBR1):c.1850-16G>A
NM_174916.3(UBR1):c.1850-16del
NM_174916.3(UBR1):c.1850-17C>T
NM_174916.3(UBR1):c.1850-19C>T
NM_174916.3(UBR1):c.1850-4T>C rs2141318480
NM_174916.3(UBR1):c.1850-9dup
NM_174916.3(UBR1):c.1851T>C (p.Gly617=)
NM_174916.3(UBR1):c.1861C>T (p.Arg621Cys)
NM_174916.3(UBR1):c.1862G>A (p.Arg621His)
NM_174916.3(UBR1):c.1869C>T (p.Ser623=)
NM_174916.3(UBR1):c.186G>A (p.Gln62=)
NM_174916.3(UBR1):c.1873C>T (p.Leu625=)
NM_174916.3(UBR1):c.1896T>C (p.His632=)
NM_174916.3(UBR1):c.1911+10del
NM_174916.3(UBR1):c.1911+11del
NM_174916.3(UBR1):c.1911+13A>C
NM_174916.3(UBR1):c.1911+15T>C
NM_174916.3(UBR1):c.1911+20_1911+21del
NM_174916.3(UBR1):c.1912-12_1912-9del
NM_174916.3(UBR1):c.1912-14T>A rs2141318155
NM_174916.3(UBR1):c.1912-6T>G rs1131691523
NM_174916.3(UBR1):c.1917C>G (p.Asp639Glu)
NM_174916.3(UBR1):c.1932A>G (p.Val644=)
NM_174916.3(UBR1):c.1935A>C (p.Leu645=)
NM_174916.3(UBR1):c.1935A>G (p.Leu645=)
NM_174916.3(UBR1):c.1944T>C (p.Tyr648=)
NM_174916.3(UBR1):c.195T>C (p.Ser65=)
NM_174916.3(UBR1):c.1971C>A (p.Ala657=)
NM_174916.3(UBR1):c.1971C>T (p.Ala657=)
NM_174916.3(UBR1):c.2022+10A>C
NM_174916.3(UBR1):c.2022+13C>G
NM_174916.3(UBR1):c.2022+14T>C
NM_174916.3(UBR1):c.2022+15A>G
NM_174916.3(UBR1):c.2022+19T>C
NM_174916.3(UBR1):c.2022+20T>A
NM_174916.3(UBR1):c.2022+9A>G
NM_174916.3(UBR1):c.2022+9_2022+10del
NM_174916.3(UBR1):c.2023-11T>C
NM_174916.3(UBR1):c.2023-12A>G
NM_174916.3(UBR1):c.2023-16A>G
NM_174916.3(UBR1):c.2023-16A>T
NM_174916.3(UBR1):c.2023-18C>G
NM_174916.3(UBR1):c.2023-3T>C
NM_174916.3(UBR1):c.2023-5del
NM_174916.3(UBR1):c.2023-7C>A
NM_174916.3(UBR1):c.2023-7C>T
NM_174916.3(UBR1):c.2046G>A (p.Lys682=)
NM_174916.3(UBR1):c.2055A>G (p.Glu685=)
NM_174916.3(UBR1):c.2076C>A (p.Ile692=)
NM_174916.3(UBR1):c.2088+10dup
NM_174916.3(UBR1):c.2088+7A>T
NM_174916.3(UBR1):c.2089-4A>G
NM_174916.3(UBR1):c.2118G>A (p.Lys706=)
NM_174916.3(UBR1):c.2121C>T (p.Phe707=)
NM_174916.3(UBR1):c.2154C>G (p.Ala718=)
NM_174916.3(UBR1):c.2172C>T (p.Thr724=)
NM_174916.3(UBR1):c.2190+12G>A
NM_174916.3(UBR1):c.2190+20T>C rs2141316539
NM_174916.3(UBR1):c.2190+7A>T
NM_174916.3(UBR1):c.2190+9C>T
NM_174916.3(UBR1):c.2191-10G>A
NM_174916.3(UBR1):c.2191-10G>T
NM_174916.3(UBR1):c.2191-11C>T
NM_174916.3(UBR1):c.2191-17C>G
NM_174916.3(UBR1):c.2191-1G>T
NM_174916.3(UBR1):c.2191-4A>G
NM_174916.3(UBR1):c.2191-5T>C
NM_174916.3(UBR1):c.2194T>G (p.Leu732Val)
NM_174916.3(UBR1):c.2199T>C (p.Ile733=)
NM_174916.3(UBR1):c.2215C>A (p.Leu739Ile)
NM_174916.3(UBR1):c.2217A>C (p.Leu739=)
NM_174916.3(UBR1):c.2236G>A (p.Val746Ile)
NM_174916.3(UBR1):c.2238C>T (p.Val746=)
NM_174916.3(UBR1):c.2247T>C (p.Tyr749=)
NM_174916.3(UBR1):c.2254+13C>T
NM_174916.3(UBR1):c.2254+14A>G
NM_174916.3(UBR1):c.2254+15C>G
NM_174916.3(UBR1):c.2254+15_2254+16del
NM_174916.3(UBR1):c.2254+16A>C
NM_174916.3(UBR1):c.2254+18T>C rs374345742
NM_174916.3(UBR1):c.2254+7T>C
NM_174916.3(UBR1):c.2255-2A>G
NM_174916.3(UBR1):c.2261G>A (p.Arg754His) rs1567131023
NM_174916.3(UBR1):c.2268A>C (p.Val756=)
NM_174916.3(UBR1):c.2268A>G (p.Val756=)
NM_174916.3(UBR1):c.2273G>A (p.Gly758Glu) rs1131691524
NM_174916.3(UBR1):c.2280A>G (p.Gly760=)
NM_174916.3(UBR1):c.2301C>A (p.Val767=)
NM_174916.3(UBR1):c.2314A>G (p.Ile772Val) rs2141310474
NM_174916.3(UBR1):c.2316C>T (p.Ile772=)
NM_174916.3(UBR1):c.2323T>C (p.Leu775=) rs751705653
NM_174916.3(UBR1):c.2325G>A (p.Leu775=)
NM_174916.3(UBR1):c.2349C>T (p.His783=)
NM_174916.3(UBR1):c.2367T>C (p.Asn789=)
NM_174916.3(UBR1):c.2379+11T>G
NM_174916.3(UBR1):c.2380-13A>G
NM_174916.3(UBR1):c.2380-20_2380-2del rs1567130338
NM_174916.3(UBR1):c.2380-6C>T
NM_174916.3(UBR1):c.2380-8T>C
NM_174916.3(UBR1):c.2385T>C (p.Asn795=)
NM_174916.3(UBR1):c.2394T>C (p.Thr798=)
NM_174916.3(UBR1):c.2415C>T (p.Asn805=)
NM_174916.3(UBR1):c.2421G>T (p.Val807=)
NM_174916.3(UBR1):c.2424C>T (p.Ala808=)
NM_174916.3(UBR1):c.2432+19T>C
NM_174916.3(UBR1):c.2432+20G>C
NM_174916.3(UBR1):c.2432+7G>C
NM_174916.3(UBR1):c.2432+7G>T
NM_174916.3(UBR1):c.2433-17A>G
NM_174916.3(UBR1):c.2433-4T>G
NM_174916.3(UBR1):c.2433-6A>G
NM_174916.3(UBR1):c.2439A>G (p.Pro813=)
NM_174916.3(UBR1):c.2443G>A (p.Val815Ile)
NM_174916.3(UBR1):c.246T>C (p.Asp82=)
NM_174916.3(UBR1):c.2517C>G (p.Ser839=)
NM_174916.3(UBR1):c.2526G>A (p.Gln842=)
NM_174916.3(UBR1):c.2532C>T (p.Ser844=)
NM_174916.3(UBR1):c.2535+10A>T
NM_174916.3(UBR1):c.2535+16C>A
NM_174916.3(UBR1):c.2536-13G>T
NM_174916.3(UBR1):c.2536-15T>C
NM_174916.3(UBR1):c.2536-16A>G
NM_174916.3(UBR1):c.2536-5T>A
NM_174916.3(UBR1):c.2536-5del rs762394570
NM_174916.3(UBR1):c.2536-5dup
NM_174916.3(UBR1):c.2577A>G (p.Lys859=)
NM_174916.3(UBR1):c.2584+20A>G
NM_174916.3(UBR1):c.2585-12C>A
NM_174916.3(UBR1):c.2585-18A>G
NM_174916.3(UBR1):c.2585-19C>A
NM_174916.3(UBR1):c.2585-20C>G
NM_174916.3(UBR1):c.2585-21_2585-11dup
NM_174916.3(UBR1):c.2587T>C (p.Leu863=) rs1402278275
NM_174916.3(UBR1):c.2589G>A (p.Leu863=)
NM_174916.3(UBR1):c.2592G>A (p.Pro864=)
NM_174916.3(UBR1):c.2603C>T (p.Pro868Leu)
NM_174916.3(UBR1):c.2616C>T (p.Cys872=)
NM_174916.3(UBR1):c.2626_2644dup (p.Leu882delinsGlnGlnSerAspTer)
NM_174916.3(UBR1):c.2629A>G (p.Lys877Glu) rs1000752634
NM_174916.3(UBR1):c.2631A>G (p.Lys877=)
NM_174916.3(UBR1):c.2643T>C (p.Leu881=)
NM_174916.3(UBR1):c.2658C>T (p.Ile886=)
NM_174916.3(UBR1):c.2659A>T (p.Met887Leu)
NM_174916.3(UBR1):c.2667C>T (p.Tyr889=)
NM_174916.3(UBR1):c.2686G>A (p.Glu896Lys)
NM_174916.3(UBR1):c.2687A>T (p.Glu896Val)
NM_174916.3(UBR1):c.2689C>T (p.Arg897Trp)
NM_174916.3(UBR1):c.268T>C (p.Leu90=)
NM_174916.3(UBR1):c.2721C>T (p.Thr907=)
NM_174916.3(UBR1):c.2726G>A (p.Gly909Glu)
NM_174916.3(UBR1):c.2727G>A (p.Gly909=)
NM_174916.3(UBR1):c.2739+18A>G
NM_174916.3(UBR1):c.2739+19T>C
NM_174916.3(UBR1):c.2739+7T>G
NM_174916.3(UBR1):c.2740-10C>T
NM_174916.3(UBR1):c.2740-4T>A
NM_174916.3(UBR1):c.2757A>T (p.Ala919=) rs866362589
NM_174916.3(UBR1):c.2769A>G (p.Leu923=)
NM_174916.3(UBR1):c.2794G>C (p.Ala932Pro)
NM_174916.3(UBR1):c.2820C>T (p.Asp940=)
NM_174916.3(UBR1):c.282A>T (p.Gly94=)
NM_174916.3(UBR1):c.2832G>A (p.Lys944=)
NM_174916.3(UBR1):c.2839+10A>T
NM_174916.3(UBR1):c.2839+15C>T
NM_174916.3(UBR1):c.2839+17C>G rs2141303496
NM_174916.3(UBR1):c.2839+18T>C
NM_174916.3(UBR1):c.2839+19C>T
NM_174916.3(UBR1):c.2839+9G>T
NM_174916.3(UBR1):c.2840-14G>A
NM_174916.3(UBR1):c.2840-8del
NM_174916.3(UBR1):c.2856C>T (p.Ala952=)
NM_174916.3(UBR1):c.2874T>C (p.Leu958=)
NM_174916.3(UBR1):c.2875T>C (p.Leu959=)
NM_174916.3(UBR1):c.2899C>T (p.Gln967Ter)
NM_174916.3(UBR1):c.2910C>T (p.Gly970=)
NM_174916.3(UBR1):c.2928G>A (p.Thr976=)
NM_174916.3(UBR1):c.2928G>C (p.Thr976=)
NM_174916.3(UBR1):c.2928G>T (p.Thr976=)
NM_174916.3(UBR1):c.2940+12A>G
NM_174916.3(UBR1):c.2940+13A>T
NM_174916.3(UBR1):c.2940+19G>C
NM_174916.3(UBR1):c.2940+20T>G
NM_174916.3(UBR1):c.2941-10T>G
NM_174916.3(UBR1):c.2941-11G>A
NM_174916.3(UBR1):c.2941-13C>G
NM_174916.3(UBR1):c.2941-13_2941-12del
NM_174916.3(UBR1):c.2941-18T>C
NM_174916.3(UBR1):c.2941-1G>C
NM_174916.3(UBR1):c.2941-8T>G
NM_174916.3(UBR1):c.2949C>T (p.Asp983=)
NM_174916.3(UBR1):c.2959C>T (p.Arg987Ter) rs1249254589
NM_174916.3(UBR1):c.2961A>C (p.Arg987=)
NM_174916.3(UBR1):c.2967A>G (p.Arg989=)
NM_174916.3(UBR1):c.3000A>C (p.Ser1000=)
NM_174916.3(UBR1):c.3006G>A (p.Ser1002=)
NM_174916.3(UBR1):c.3021T>C (p.Asn1007=)
NM_174916.3(UBR1):c.3027+12T>C
NM_174916.3(UBR1):c.3027+16A>C
NM_174916.3(UBR1):c.3027+19A>T
NM_174916.3(UBR1):c.3027+20C>G
NM_174916.3(UBR1):c.3028-10T>G
NM_174916.3(UBR1):c.3028-12C>G
NM_174916.3(UBR1):c.3028-14T>C
NM_174916.3(UBR1):c.3028-19G>A
NM_174916.3(UBR1):c.3028-7T>C
NM_174916.3(UBR1):c.3028-9A>G
NM_174916.3(UBR1):c.3036T>C (p.His1012=)
NM_174916.3(UBR1):c.3051A>G (p.Ala1017=)
NM_174916.3(UBR1):c.3055C>A (p.Arg1019=) rs267604210
NM_174916.3(UBR1):c.3074C>T (p.Ala1025Val)
NM_174916.3(UBR1):c.3075T>C (p.Ala1025=)
NM_174916.3(UBR1):c.3084A>G (p.Leu1028=)
NM_174916.3(UBR1):c.3087T>C (p.His1029=)
NM_174916.3(UBR1):c.3099C>A (p.Ile1033=)
NM_174916.3(UBR1):c.3156T>C (p.Tyr1052=)
NM_174916.3(UBR1):c.3159C>T (p.Asp1053=)
NM_174916.3(UBR1):c.3164C>T (p.Thr1055Ile)
NM_174916.3(UBR1):c.3180G>C (p.Gly1060=)
NM_174916.3(UBR1):c.3209+13A>T
NM_174916.3(UBR1):c.3209+16C>T
NM_174916.3(UBR1):c.3209+18A>G
NM_174916.3(UBR1):c.3209+7T>C
NM_174916.3(UBR1):c.3210-16T>C
NM_174916.3(UBR1):c.321_324dup (p.Thr109fs)
NM_174916.3(UBR1):c.3225T>G (p.Ser1075Arg)
NM_174916.3(UBR1):c.324A>G (p.Thr108=)
NM_174916.3(UBR1):c.3264A>C (p.Pro1088=)
NM_174916.3(UBR1):c.3273T>G (p.Thr1091=)
NM_174916.3(UBR1):c.3282G>A (p.Glu1094=)
NM_174916.3(UBR1):c.3285G>T (p.Val1095=)
NM_174916.3(UBR1):c.3291G>A (p.Thr1097=)
NM_174916.3(UBR1):c.3294C>T (p.Cys1098=) rs1233073912
NM_174916.3(UBR1):c.3303C>T (p.Cys1101=)
NM_174916.3(UBR1):c.3306A>G (p.Gln1102=)
NM_174916.3(UBR1):c.3315G>A (p.Gln1105=)
NM_174916.3(UBR1):c.3318G>A (p.Glu1106=)
NM_174916.3(UBR1):c.3321G>A (p.Val1107=)
NM_174916.3(UBR1):c.3326T>C (p.Ile1109Thr)
NM_174916.3(UBR1):c.3345A>G (p.Val1115=)
NM_174916.3(UBR1):c.3363G>A (p.Gln1121=)
NM_174916.3(UBR1):c.336C>A (p.Cys112Ter)
NM_174916.3(UBR1):c.3376T>C (p.Leu1126=)
NM_174916.3(UBR1):c.338+11G>T
NM_174916.3(UBR1):c.338+18A>G
NM_174916.3(UBR1):c.338+2T>G
NM_174916.3(UBR1):c.339-14C>T
NM_174916.3(UBR1):c.339-19G>T
NM_174916.3(UBR1):c.339-9C>A
NM_174916.3(UBR1):c.3405A>G (p.Glu1135=)
NM_174916.3(UBR1):c.3408C>G (p.Leu1136=)
NM_174916.3(UBR1):c.3411A>G (p.Ser1137=)
NM_174916.3(UBR1):c.3415+15A>C
NM_174916.3(UBR1):c.3415+18_3415+21del
NM_174916.3(UBR1):c.3416-11C>T
NM_174916.3(UBR1):c.3416-15T>A
NM_174916.3(UBR1):c.3416-6T>C
NM_174916.3(UBR1):c.3416-7G>A
NM_174916.3(UBR1):c.3429A>C (p.Pro1143=)
NM_174916.3(UBR1):c.3436A>C (p.Met1146Leu) rs754753489
NM_174916.3(UBR1):c.3441T>C (p.Asp1147=)
NM_174916.3(UBR1):c.3453A>C (p.Ala1151=)
NM_174916.3(UBR1):c.3465T>C (p.Tyr1155=)
NM_174916.3(UBR1):c.3483T>C (p.His1161=)
NM_174916.3(UBR1):c.3495A>T (p.Ala1165=)
NM_174916.3(UBR1):c.3509+11C>T
NM_174916.3(UBR1):c.3509+12T>C
NM_174916.3(UBR1):c.3509+19A>T
NM_174916.3(UBR1):c.3509+2dup rs2141286211
NM_174916.3(UBR1):c.3509+8G>A
NM_174916.3(UBR1):c.3510-10A>G
NM_174916.3(UBR1):c.3510-16C>A
NM_174916.3(UBR1):c.3510-17T>A
NM_174916.3(UBR1):c.3510-1_3510delinsTT
NM_174916.3(UBR1):c.3510-20G>A
NM_174916.3(UBR1):c.3510-20G>C
NM_174916.3(UBR1):c.3510-4dup
NM_174916.3(UBR1):c.3525A>G (p.Val1175=)
NM_174916.3(UBR1):c.3526C>T (p.Gln1176Ter)
NM_174916.3(UBR1):c.3552T>C (p.His1184=)
NM_174916.3(UBR1):c.3556G>A (p.Asp1186Asn)
NM_174916.3(UBR1):c.3568T>C (p.Leu1190=)
NM_174916.3(UBR1):c.3579A>T (p.Gly1193=)
NM_174916.3(UBR1):c.3600C>T (p.Cys1200=)
NM_174916.3(UBR1):c.3603A>G (p.Lys1201=)
NM_174916.3(UBR1):c.3606T>G (p.Ser1202=)
NM_174916.3(UBR1):c.3609G>C (p.Leu1203=)
NM_174916.3(UBR1):c.360A>T (p.Thr120=)
NM_174916.3(UBR1):c.3642A>G (p.Gln1214=)
NM_174916.3(UBR1):c.3659+14T>C
NM_174916.3(UBR1):c.3659+16T>C
NM_174916.3(UBR1):c.366A>G (p.Val122=)
NM_174916.3(UBR1):c.3675T>G (p.Ala1225=)
NM_174916.3(UBR1):c.3684A>G (p.Gln1228=)
NM_174916.3(UBR1):c.369C>T (p.Leu123=)
NM_174916.3(UBR1):c.3700C>A (p.Arg1234=) rs770295197
NM_174916.3(UBR1):c.3700C>T (p.Arg1234Trp) rs770295197
NM_174916.3(UBR1):c.3710A>C (p.Gln1237Pro)
NM_174916.3(UBR1):c.3714T>A (p.Thr1238=)
NM_174916.3(UBR1):c.3739A>G (p.Asn1247Asp)
NM_174916.3(UBR1):c.3757+1G>A
NM_174916.3(UBR1):c.3757+20A>G
NM_174916.3(UBR1):c.3757+7T>C
NM_174916.3(UBR1):c.3758-12T>C
NM_174916.3(UBR1):c.3758-2A>T
NM_174916.3(UBR1):c.3759A>G (p.Gly1253=)
NM_174916.3(UBR1):c.3765C>T (p.Asn1255=)
NM_174916.3(UBR1):c.3783T>C (p.Phe1261=)
NM_174916.3(UBR1):c.3786T>C (p.Asn1262=)
NM_174916.3(UBR1):c.3813G>A (p.Glu1271=)
NM_174916.3(UBR1):c.3816C>T (p.Phe1272=)
NM_174916.3(UBR1):c.3837C>T (p.Gly1279=)
NM_174916.3(UBR1):c.3848+13A>G
NM_174916.3(UBR1):c.3848+1G>A
NM_174916.3(UBR1):c.3848C>T (p.Ser1283Leu)
NM_174916.3(UBR1):c.3849-11T>G
NM_174916.3(UBR1):c.3849-13G>A
NM_174916.3(UBR1):c.3849-13G>T
NM_174916.3(UBR1):c.3849-16C>T
NM_174916.3(UBR1):c.3849-18T>C
NM_174916.3(UBR1):c.3849-19T>G
NM_174916.3(UBR1):c.3849-9T>C
NM_174916.3(UBR1):c.384C>T (p.Phe128=)
NM_174916.3(UBR1):c.3861A>T (p.Ser1287=)
NM_174916.3(UBR1):c.3873G>A (p.Lys1291=) rs149097306
NM_174916.3(UBR1):c.3891T>C (p.Phe1297=)
NM_174916.3(UBR1):c.3894C>T (p.Ala1298=)
NM_174916.3(UBR1):c.3900A>G (p.Thr1300=)
NM_174916.3(UBR1):c.3912T>A (p.Ile1304=)
NM_174916.3(UBR1):c.3921A>G (p.Lys1307=)
NM_174916.3(UBR1):c.3930T>C (p.Pro1310=)
NM_174916.3(UBR1):c.3942T>C (p.Asp1314=)
NM_174916.3(UBR1):c.3946C>G (p.Arg1316Gly)
NM_174916.3(UBR1):c.3963C>T (p.Thr1321=)
NM_174916.3(UBR1):c.396T>G (p.Val132=)
NM_174916.3(UBR1):c.3972C>T (p.Thr1324=)
NM_174916.3(UBR1):c.3984T>C (p.Thr1328=)
NM_174916.3(UBR1):c.3995T>C (p.Ile1332Thr) rs761815089
NM_174916.3(UBR1):c.3997+10A>C rs1596087539
NM_174916.3(UBR1):c.3997+11T>C
NM_174916.3(UBR1):c.3997+16A>G
NM_174916.3(UBR1):c.3997+20T>C
NM_174916.3(UBR1):c.3998-10A>G
NM_174916.3(UBR1):c.3998-10A>T
NM_174916.3(UBR1):c.3998-11T>A
NM_174916.3(UBR1):c.3998-11del
NM_174916.3(UBR1):c.3998-11dup rs770966862
NM_174916.3(UBR1):c.3998-15T>C
NM_174916.3(UBR1):c.3998-15T>G
NM_174916.3(UBR1):c.3998-16T>A
NM_174916.3(UBR1):c.3998-20A>T
NM_174916.3(UBR1):c.3998-20del
NM_174916.3(UBR1):c.3998-4T>C
NM_174916.3(UBR1):c.3998-7_3998-5del
NM_174916.3(UBR1):c.4002T>C (p.Asn1334=)
NM_174916.3(UBR1):c.4005A>T (p.Leu1335=)
NM_174916.3(UBR1):c.4006T>C (p.Leu1336=)
NM_174916.3(UBR1):c.4013A>T (p.Asp1338Val)
NM_174916.3(UBR1):c.4014T>C (p.Asp1338=)
NM_174916.3(UBR1):c.4030_4033del (p.Phe1344fs)
NM_174916.3(UBR1):c.4044A>T (p.Gln1348His)
NM_174916.3(UBR1):c.4050G>A (p.Arg1350=)
NM_174916.3(UBR1):c.4053+16C>G
NM_174916.3(UBR1):c.4053+17A>G
NM_174916.3(UBR1):c.4053+9A>C
NM_174916.3(UBR1):c.4054-12C>T
NM_174916.3(UBR1):c.4054-16CT[2]
NM_174916.3(UBR1):c.4054-5T>C
NM_174916.3(UBR1):c.4054-7A>C
NM_174916.3(UBR1):c.4054-8C>T
NM_174916.3(UBR1):c.405T>C (p.Asn135=)
NM_174916.3(UBR1):c.4093C>T (p.Gln1365Ter)
NM_174916.3(UBR1):c.4104C>G (p.Thr1368=)
NM_174916.3(UBR1):c.4132C>G (p.Leu1378Val)
NM_174916.3(UBR1):c.4146A>G (p.Leu1382=)
NM_174916.3(UBR1):c.4150+14T>C
NM_174916.3(UBR1):c.4150+18C>T
NM_174916.3(UBR1):c.4150+20A>G
NM_174916.3(UBR1):c.4150+9T>G
NM_174916.3(UBR1):c.4151-10T>A
NM_174916.3(UBR1):c.4151-11G>C
NM_174916.3(UBR1):c.4151-16T>C
NM_174916.3(UBR1):c.4165A>C (p.Ile1389Leu) rs546603068
NM_174916.3(UBR1):c.4179T>C (p.Asp1393=)
NM_174916.3(UBR1):c.418-12_418-6dup
NM_174916.3(UBR1):c.418-14T>A
NM_174916.3(UBR1):c.418-5A>C
NM_174916.3(UBR1):c.418-9C>T
NM_174916.3(UBR1):c.4192C>T (p.Leu1398=)
NM_174916.3(UBR1):c.4197T>A (p.Ser1399=)
NM_174916.3(UBR1):c.4198A>G (p.Ile1400Val)
NM_174916.3(UBR1):c.4212T>C (p.His1404=)
NM_174916.3(UBR1):c.4213G>A (p.Val1405Ile)
NM_174916.3(UBR1):c.4218+10C>A
NM_174916.3(UBR1):c.4218+12G>A
NM_174916.3(UBR1):c.4218+197del rs201655415
NM_174916.3(UBR1):c.4218+20G>C
NM_174916.3(UBR1):c.4219-15A>G
NM_174916.3(UBR1):c.4219-17C>G rs2141267058
NM_174916.3(UBR1):c.4219-19G>A
NM_174916.3(UBR1):c.4219-4A>G
NM_174916.3(UBR1):c.4230G>A (p.Val1410=)
NM_174916.3(UBR1):c.4230G>C (p.Val1410=)
NM_174916.3(UBR1):c.4242A>G (p.Pro1414=)
NM_174916.3(UBR1):c.4245C>T (p.Ser1415=)
NM_174916.3(UBR1):c.4248G>A (p.Leu1416=)
NM_174916.3(UBR1):c.4273C>G (p.Gln1425Glu)
NM_174916.3(UBR1):c.4280C>T (p.Ser1427Phe) rs1480939799
NM_174916.3(UBR1):c.4281T>C (p.Ser1427=)
NM_174916.3(UBR1):c.4291T>C (p.Ser1431Pro)
NM_174916.3(UBR1):c.4302C>T (p.Asn1434=)
NM_174916.3(UBR1):c.4309dup (p.Tyr1437fs)
NM_174916.3(UBR1):c.4329C>T (p.Thr1443=)
NM_174916.3(UBR1):c.4353A>G (p.Leu1451=)
NM_174916.3(UBR1):c.4359A>G (p.Thr1453=)
NM_174916.3(UBR1):c.4369+12A>C
NM_174916.3(UBR1):c.4369+12A>G
NM_174916.3(UBR1):c.4369+17G>A
NM_174916.3(UBR1):c.4369+20G>A
NM_174916.3(UBR1):c.4369+20G>T
NM_174916.3(UBR1):c.4370-132dup rs879184221
NM_174916.3(UBR1):c.4370-15G>A
NM_174916.3(UBR1):c.4370-17C>T
NM_174916.3(UBR1):c.4370-19T>C
NM_174916.3(UBR1):c.4370-4del
NM_174916.3(UBR1):c.4370-8T>A
NM_174916.3(UBR1):c.4372del (p.Leu1458fs)
NM_174916.3(UBR1):c.4374A>C (p.Leu1458=)
NM_174916.3(UBR1):c.4377C>G (p.Pro1459=)
NM_174916.3(UBR1):c.4377C>T (p.Pro1459=)
NM_174916.3(UBR1):c.4386G>A (p.Gln1462=)
NM_174916.3(UBR1):c.4392A>G (p.Gln1464=)
NM_174916.3(UBR1):c.439G>T (p.Gly147Trp)
NM_174916.3(UBR1):c.4416C>T (p.Ser1472=)
NM_174916.3(UBR1):c.4417G>A (p.Ala1473Thr)
NM_174916.3(UBR1):c.4419A>G (p.Ala1473=)
NM_174916.3(UBR1):c.441G>A (p.Gly147=)
NM_174916.3(UBR1):c.4438A>G (p.Ile1480Val)
NM_174916.3(UBR1):c.4446A>G (p.Gln1482=)
NM_174916.3(UBR1):c.4457+10A>G
NM_174916.3(UBR1):c.4457+14C>T
NM_174916.3(UBR1):c.4457+15A>G
NM_174916.3(UBR1):c.4457+17T>G
NM_174916.3(UBR1):c.4458-13T>C
NM_174916.3(UBR1):c.4458-17G>C
NM_174916.3(UBR1):c.4458-5C>T
NM_174916.3(UBR1):c.4479T>G (p.Pro1493=)
NM_174916.3(UBR1):c.4489T>C (p.Leu1497=)
NM_174916.3(UBR1):c.4527T>G (p.Leu1509=)
NM_174916.3(UBR1):c.4536T>A (p.Ala1512=)
NM_174916.3(UBR1):c.4539A>G (p.Ala1513=)
NM_174916.3(UBR1):c.453_454del (p.Cys151fs)
NM_174916.3(UBR1):c.4557A>G (p.Leu1519=)
NM_174916.3(UBR1):c.4571C>T (p.Pro1524Leu)
NM_174916.3(UBR1):c.4572G>A (p.Pro1524=)
NM_174916.3(UBR1):c.4591+18del
NM_174916.3(UBR1):c.4591+20C>A
NM_174916.3(UBR1):c.4591+7A>G
NM_174916.3(UBR1):c.4592-12A>G
NM_174916.3(UBR1):c.4592-16T>A
NM_174916.3(UBR1):c.4592-16T>G
NM_174916.3(UBR1):c.4592-17T>C
NM_174916.3(UBR1):c.4592-1G>C
NM_174916.3(UBR1):c.4592-7C>T rs1371759070
NM_174916.3(UBR1):c.4601_4603del (p.Glu1534del) rs753040283
NM_174916.3(UBR1):c.460A>G (p.Thr154Ala)
NM_174916.3(UBR1):c.4612A>C (p.Ser1538Arg)
NM_174916.3(UBR1):c.4614T>C (p.Ser1538=)
NM_174916.3(UBR1):c.4617A>G (p.Ala1539=)
NM_174916.3(UBR1):c.4630C>T (p.Leu1544=)
NM_174916.3(UBR1):c.4631T>C (p.Leu1544Pro)
NM_174916.3(UBR1):c.4639C>G (p.Pro1547Ala)
NM_174916.3(UBR1):c.4641T>C (p.Pro1547=)
NM_174916.3(UBR1):c.4656G>A (p.Leu1552=)
NM_174916.3(UBR1):c.4659C>T (p.Leu1553=)
NM_174916.3(UBR1):c.465G>A (p.Glu155=)
NM_174916.3(UBR1):c.4686G>A (p.Arg1562=)
NM_174916.3(UBR1):c.4689C>T (p.Pro1563=)
NM_174916.3(UBR1):c.4694T>G (p.Leu1565Arg)
NM_174916.3(UBR1):c.4695C>G (p.Leu1565=)
NM_174916.3(UBR1):c.4700+10G>T
NM_174916.3(UBR1):c.4700+19A>G
NM_174916.3(UBR1):c.4700+8G>A
NM_174916.3(UBR1):c.4701-11T>C
NM_174916.3(UBR1):c.4701-11T>G
NM_174916.3(UBR1):c.4701-15T>C
NM_174916.3(UBR1):c.4701-18T>G
NM_174916.3(UBR1):c.4701-9C>T
NM_174916.3(UBR1):c.4704del (p.Trp1568fs)
NM_174916.3(UBR1):c.4709C>T (p.Ala1570Val)
NM_174916.3(UBR1):c.4710A>C (p.Ala1570=)
NM_174916.3(UBR1):c.4745dup (p.Asn1582fs)
NM_174916.3(UBR1):c.4749C>T (p.Thr1583=)
NM_174916.3(UBR1):c.4750G>A (p.Val1584Met)
NM_174916.3(UBR1):c.4757+10A>C
NM_174916.3(UBR1):c.4757+13A>G
NM_174916.3(UBR1):c.4757+16T>A
NM_174916.3(UBR1):c.4757+1G>C
NM_174916.3(UBR1):c.4757+20C>A
NM_174916.3(UBR1):c.4757+20C>G
NM_174916.3(UBR1):c.4758-10T>A
NM_174916.3(UBR1):c.4758-4G>A
NM_174916.3(UBR1):c.4758-5T>C
NM_174916.3(UBR1):c.4758-6T>C
NM_174916.3(UBR1):c.4761C>T (p.Tyr1587=)
NM_174916.3(UBR1):c.4776T>C (p.Asn1592=)
NM_174916.3(UBR1):c.4812C>G (p.Leu1604=)
NM_174916.3(UBR1):c.4830T>C (p.His1610=)
NM_174916.3(UBR1):c.4835+11T>C
NM_174916.3(UBR1):c.4835+12G>A
NM_174916.3(UBR1):c.4835+12G>T
NM_174916.3(UBR1):c.4835+19T>C
NM_174916.3(UBR1):c.4835+8G>C
NM_174916.3(UBR1):c.4835+8G>T
NM_174916.3(UBR1):c.4836-12T>C
NM_174916.3(UBR1):c.4836-53T>C rs2277532
NM_174916.3(UBR1):c.4836-7T>G
NM_174916.3(UBR1):c.4836-8C>T
NM_174916.3(UBR1):c.4851A>C (p.Ala1617=)
NM_174916.3(UBR1):c.4860G>A (p.Glu1620=)
NM_174916.3(UBR1):c.4875C>G (p.Val1625=)
NM_174916.3(UBR1):c.4875C>T (p.Val1625=)
NM_174916.3(UBR1):c.4884T>G (p.Leu1628=)
NM_174916.3(UBR1):c.4898T>C (p.Ile1633Thr)
NM_174916.3(UBR1):c.4926G>A (p.Gln1642=)
NM_174916.3(UBR1):c.4941G>A (p.Gly1647=)
NM_174916.3(UBR1):c.4944A>G (p.Glu1648=)
NM_174916.3(UBR1):c.4950T>C (p.Val1650=)
NM_174916.3(UBR1):c.4965T>C (p.Phe1655=)
NM_174916.3(UBR1):c.4970C>T (p.Ala1657Val)
NM_174916.3(UBR1):c.4972C>T (p.Leu1658Phe)
NM_174916.3(UBR1):c.4983A>T (p.Gly1661=)
NM_174916.3(UBR1):c.4986C>A (p.Ala1662=)
NM_174916.3(UBR1):c.4986C>T (p.Ala1662=)
NM_174916.3(UBR1):c.5002C>T (p.Leu1668=)
NM_174916.3(UBR1):c.5004A>T (p.Leu1668=)
NM_174916.3(UBR1):c.5006+17C>G
NM_174916.3(UBR1):c.5007-10dup
NM_174916.3(UBR1):c.5007-17T>C
NM_174916.3(UBR1):c.5007-18A>G
NM_174916.3(UBR1):c.5007-20C>T
NM_174916.3(UBR1):c.5007-7C>G
NM_174916.3(UBR1):c.5007dup (p.Ile1670fs) rs2141248696
NM_174916.3(UBR1):c.5019C>T (p.Cys1673=)
NM_174916.3(UBR1):c.501A>G (p.Glu167=)
NM_174916.3(UBR1):c.5020C>T (p.Arg1674Ter)
NM_174916.3(UBR1):c.5021G>A (p.Arg1674Gln)
NM_174916.3(UBR1):c.5028C>T (p.Val1676=)
NM_174916.3(UBR1):c.5031G>A (p.Leu1677=)
NM_174916.3(UBR1):c.5034T>C (p.Val1678=)
NM_174916.3(UBR1):c.5046C>T (p.Ala1682=)
NM_174916.3(UBR1):c.5052C>T (p.Gly1684=)
NM_174916.3(UBR1):c.5061T>C (p.Tyr1687=)
NM_174916.3(UBR1):c.5062C>T (p.Pro1688Ser)
NM_174916.3(UBR1):c.5064A>G (p.Pro1688=)
NM_174916.3(UBR1):c.5079_5088del (p.Asp1693fs)
NM_174916.3(UBR1):c.5094A>T (p.Thr1698=)
NM_174916.3(UBR1):c.5100T>C (p.Pro1700=)
NM_174916.3(UBR1):c.5103C>A (p.Gly1701=)
NM_174916.3(UBR1):c.5103C>G (p.Gly1701=)
NM_174916.3(UBR1):c.5108+14T>A
NM_174916.3(UBR1):c.5108+14dup
NM_174916.3(UBR1):c.5108+17A>G
NM_174916.3(UBR1):c.5109-13T>C
NM_174916.3(UBR1):c.5109-155_5109-146del rs58543903
NM_174916.3(UBR1):c.5109-15C>A
NM_174916.3(UBR1):c.5109-4A>T
NM_174916.3(UBR1):c.5109-9del
NM_174916.3(UBR1):c.5113G>A (p.Gly1705Ser) rs2141245368
NM_174916.3(UBR1):c.5115C>T (p.Gly1705=)
NM_174916.3(UBR1):c.5128T>G (p.Leu1710Val) rs2031716308
NM_174916.3(UBR1):c.5130A>G (p.Leu1710=)
NM_174916.3(UBR1):c.5133T>C (p.Ser1711=)
NM_174916.3(UBR1):c.5136T>G (p.Arg1712=)
NM_174916.3(UBR1):c.5145T>C (p.Tyr1715=)
NM_174916.3(UBR1):c.5147G>A (p.Arg1716Gln)
NM_174916.3(UBR1):c.5178C>T (p.Cys1726=)
NM_174916.3(UBR1):c.5187A>G (p.Glu1729=)
NM_174916.3(UBR1):c.5208G>A (p.Glu1736=)
NM_174916.3(UBR1):c.5214T>C (p.Asn1738=)
NM_174916.3(UBR1):c.5220G>T (p.Met1740Ile) rs2141245282
NM_174916.3(UBR1):c.5221T>C (p.Leu1741=)
NM_174916.3(UBR1):c.522A>C (p.Ile174=)
NM_174916.3(UBR1):c.5247G>A (p.Leu1749=)
NM_174916.3(UBR1):c.528+7A>T
NM_174916.3(UBR1):c.529-10T>A
NM_174916.3(UBR1):c.529-13G>T
NM_174916.3(UBR1):c.529-14C>T
NM_174916.3(UBR1):c.529-15T>C
NM_174916.3(UBR1):c.529-5T>A
NM_174916.3(UBR1):c.543G>A (p.Pro181=)
NM_174916.3(UBR1):c.561T>C (p.Ile187=)
NM_174916.3(UBR1):c.588A>C (p.Ser196=)
NM_174916.3(UBR1):c.588A>T (p.Ser196=)
NM_174916.3(UBR1):c.599A>T (p.Tyr200Phe)
NM_174916.3(UBR1):c.600T>C (p.Tyr200=)
NM_174916.3(UBR1):c.603C>T (p.Val201=)
NM_174916.3(UBR1):c.639G>A (p.Leu213=)
NM_174916.3(UBR1):c.645T>C (p.Pro215=)
NM_174916.3(UBR1):c.651C>T (p.Leu217=)
NM_174916.3(UBR1):c.659+11C>T
NM_174916.3(UBR1):c.659+13G>T
NM_174916.3(UBR1):c.659+13_659+14del rs777973777
NM_174916.3(UBR1):c.659+15C>T
NM_174916.3(UBR1):c.659+16A>G
NM_174916.3(UBR1):c.659+20G>A
NM_174916.3(UBR1):c.660-149del rs545130203
NM_174916.3(UBR1):c.660-14T>C
NM_174916.3(UBR1):c.660-14T>G
NM_174916.3(UBR1):c.660-15dup rs536295773
NM_174916.3(UBR1):c.660-18A>T
NM_174916.3(UBR1):c.660-71dup rs375762522
NM_174916.3(UBR1):c.660-7del
NM_174916.3(UBR1):c.660-8del
NM_174916.3(UBR1):c.663G>A (p.Glu221=)
NM_174916.3(UBR1):c.672A>G (p.Glu224=)
NM_174916.3(UBR1):c.673A>C (p.Arg225=)
NM_174916.3(UBR1):c.675A>G (p.Arg225=)
NM_174916.3(UBR1):c.677A>C (p.Tyr226Ser) rs1057523835
NM_174916.3(UBR1):c.681T>C (p.Tyr227=)
NM_174916.3(UBR1):c.690T>C (p.Leu230=)
NM_174916.3(UBR1):c.702A>G (p.Glu234=)
NM_174916.3(UBR1):c.705C>T (p.His235=)
NM_174916.3(UBR1):c.711A>G (p.Ser237=)
NM_174916.3(UBR1):c.720C>T (p.His240=)
NM_174916.3(UBR1):c.735A>T (p.Leu245=)
NM_174916.3(UBR1):c.738A>G (p.Gln246=)
NM_174916.3(UBR1):c.752G>T (p.Cys251Phe)
NM_174916.3(UBR1):c.798+19A>C
NM_174916.3(UBR1):c.798+19A>T
NM_174916.3(UBR1):c.799-12G>A
NM_174916.3(UBR1):c.799-15T>G
NM_174916.3(UBR1):c.799-7T>C
NM_174916.3(UBR1):c.799-8A>G
NM_174916.3(UBR1):c.806G>A (p.Arg269Gln)
NM_174916.3(UBR1):c.810T>C (p.Ala270=)
NM_174916.3(UBR1):c.82-11T>C
NM_174916.3(UBR1):c.82-12C>G
NM_174916.3(UBR1):c.82-12_82-10del
NM_174916.3(UBR1):c.82-15C>T
NM_174916.3(UBR1):c.82-16T>A
NM_174916.3(UBR1):c.82-17A>G
NM_174916.3(UBR1):c.82-19T>A
NM_174916.3(UBR1):c.82-216dup rs370942763
NM_174916.3(UBR1):c.82-4T>G
NM_174916.3(UBR1):c.82-7C>G
NM_174916.3(UBR1):c.828T>C (p.Tyr276=)
NM_174916.3(UBR1):c.849G>A (p.Lys283=)
NM_174916.3(UBR1):c.861+17G>C
NM_174916.3(UBR1):c.861+18G>T
NM_174916.3(UBR1):c.861+19G>A
NM_174916.3(UBR1):c.862-19T>C
NM_174916.3(UBR1):c.863G>A (p.Ser288Asn)
NM_174916.3(UBR1):c.86G>A (p.Trp29Ter)
NM_174916.3(UBR1):c.876T>C (p.Asn292=)
NM_174916.3(UBR1):c.879C>G (p.Val293=)
NM_174916.3(UBR1):c.885A>G (p.Gln295=)
NM_174916.3(UBR1):c.888T>C (p.His296=)
NM_174916.3(UBR1):c.900A>G (p.Val300=)
NM_174916.3(UBR1):c.907T>C (p.Leu303=)
NM_174916.3(UBR1):c.92A>G (p.Gln31Arg)
NM_174916.3(UBR1):c.936A>G (p.Lys312=)
NM_174916.3(UBR1):c.93G>A (p.Gln31=)
NM_174916.3(UBR1):c.941C>T (p.Ala314Val)
NM_174916.3(UBR1):c.945G>A (p.Leu315=)
NM_174916.3(UBR1):c.951T>C (p.Leu317=)
NM_174916.3(UBR1):c.975G>C (p.Met325Ile)
NM_174916.3(UBR1):c.985+113del rs36021315
NM_174916.3(UBR1):c.985+13C>T
NM_174916.3(UBR1):c.985+15T>C
NM_174916.3(UBR1):c.985+2T>A
NM_174916.3(UBR1):c.985+2T>C
NM_174916.3(UBR1):c.985+4A>C
NM_174916.3(UBR1):c.985+7A>G
NM_174916.3(UBR1):c.985+97_985+100del rs770035678
NM_174916.3(UBR1):c.985+97_985+99del rs757569234
NM_174916.3(UBR1):c.986-11T>C
NM_174916.3(UBR1):c.986-13C>A
NM_174916.3(UBR1):c.986-13C>T
NM_174916.3(UBR1):c.986-17A>G
NM_174916.3(UBR1):c.986-18_986-12dup
NM_174916.3(UBR1):c.986-7T>C

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