ClinVar Miner

List of variants studied for Mucopolysaccharidosis type 7 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 512
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro) rs9530 0.50676
NM_000181.4(GUSB):c.1653+151A>G rs1880555 0.49681
NM_000181.4(GUSB):c.1740C>T (p.Tyr580=) rs1061361 0.10447
NM_000181.4(GUSB):c.-12G>A rs2279903 0.01784
NM_000181.4(GUSB):c.162C>T (p.Asn54=) rs74975849 0.00909
NM_000181.4(GUSB):c.561A>G (p.Gln187=) rs74430256 0.00755
NM_000181.4(GUSB):c.725-16C>T rs62470936 0.00494
NM_000181.4(GUSB):c.1245-15C>T rs62470935 0.00464
NM_000181.4(GUSB):c.216C>T (p.Gly72=) rs77774169 0.00351
NM_000181.4(GUSB):c.1752G>A (p.Glu584=) rs141430018 0.00250
NM_000181.4(GUSB):c.1359G>A (p.Ala453=) rs118066970 0.00208
NM_000181.4(GUSB):c.1041T>C (p.Gly347=) rs141303888 0.00197
NM_000181.4(GUSB):c.222C>T (p.Thr74=) rs140016611 0.00185
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212 0.00128
NM_000181.4(GUSB):c.764T>A (p.Leu255Gln) rs140709901 0.00063
NM_000181.4(GUSB):c.1461T>C (p.Tyr487=) rs200831987 0.00052
NM_000181.4(GUSB):c.684C>A (p.Ile228=) rs375590538 0.00045
NM_000181.4(GUSB):c.1240C>T (p.Leu414=) rs150686327 0.00022
NM_000181.4(GUSB):c.147C>T (p.Ala49=) rs375940373 0.00017
NM_000181.4(GUSB):c.54C>T (p.Gly18=) rs759514074 0.00017
NM_000181.4(GUSB):c.1020G>A (p.Gly340=) rs372851133 0.00016
NM_000181.4(GUSB):c.1291G>A (p.Glu431Lys) rs143040697 0.00016
NM_000181.4(GUSB):c.1329C>T (p.Val443=) rs139776224 0.00016
NM_000181.4(GUSB):c.695C>G (p.Thr232Ser) rs138618819 0.00016
NM_000181.4(GUSB):c.13T>C (p.Ser5Pro) rs190496263 0.00015
NM_000181.4(GUSB):c.157G>A (p.Asp53Asn) rs371314015 0.00015
NM_000181.4(GUSB):c.933G>A (p.Thr311=) rs188921177 0.00014
NM_000181.4(GUSB):c.918G>T (p.Gln306His) rs375828604 0.00012
NM_000181.4(GUSB):c.447C>T (p.Phe149=) rs148364905 0.00011
NM_000181.4(GUSB):c.582-17C>T rs760650363 0.00011
NM_000181.4(GUSB):c.202C>T (p.Leu68=) rs746199104 0.00010
NM_000181.4(GUSB):c.1244+17C>T rs199587731 0.00009
NM_000181.4(GUSB):c.211-18C>T rs774828816 0.00008
NM_000181.4(GUSB):c.1402G>A (p.Ala468Thr) rs752854143 0.00007
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe) rs121918181 0.00007
NM_000181.4(GUSB):c.1065C>T (p.Asp355=) rs758070679 0.00006
NM_000181.4(GUSB):c.1066-5C>T rs376501876 0.00006
NM_000181.4(GUSB):c.1213G>A (p.Asp405Asn) rs200149500 0.00006
NM_000181.4(GUSB):c.678C>T (p.Thr226=) rs537957979 0.00006
NM_000181.4(GUSB):c.807C>T (p.Val269=) rs571704452 0.00006
NM_000181.4(GUSB):c.871T>A (p.Tyr291Asn) rs760452541 0.00006
NM_000181.4(GUSB):c.105G>C (p.Ser35=) rs758743865 0.00005
NM_000181.4(GUSB):c.1137C>T (p.Asn379=) rs371271170 0.00005
NM_000181.4(GUSB):c.211-8C>G rs2293340 0.00005
NM_000181.4(GUSB):c.532C>A (p.Pro178Thr) rs11559281 0.00005
NM_000181.4(GUSB):c.1121G>A (p.Arg374His) rs780716481 0.00004
NM_000181.4(GUSB):c.1138G>A (p.Ala380Thr) rs377615121 0.00004
NM_000181.4(GUSB):c.1238C>T (p.Ala413Val) rs752523400 0.00004
NM_000181.4(GUSB):c.1244C>T (p.Pro415Leu) rs751025746 0.00004
NM_000181.4(GUSB):c.1485T>C (p.Tyr495=) rs1333588701 0.00004
NM_000181.4(GUSB):c.1617C>T (p.Ser539=) rs377519272 0.00004
NM_000181.4(GUSB):c.1789+9C>T rs545446158 0.00004
NM_000181.4(GUSB):c.1856C>T (p.Ala619Val) rs121918172 0.00004
NM_000181.4(GUSB):c.324G>A (p.Pro108=) rs546131174 0.00004
NM_000181.4(GUSB):c.510C>T (p.Ile170=) rs752674900 0.00004
NM_000181.4(GUSB):c.766T>C (p.Phe256Leu) rs200941434 0.00004
NM_000181.4(GUSB):c.1224C>T (p.Pro408=) rs757418833 0.00003
NM_000181.4(GUSB):c.1470C>T (p.Asp490=) rs143084006 0.00003
NM_000181.4(GUSB):c.1796C>T (p.Thr599Met) rs765983374 0.00003
NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp) rs121918176 0.00003
NM_000181.4(GUSB):c.1857G>A (p.Ala619=) rs779147312 0.00003
NM_000181.4(GUSB):c.633C>T (p.Tyr211=) rs140278510 0.00003
NM_000181.4(GUSB):c.1062G>A (p.Ala354=) rs554759648 0.00002
NM_000181.4(GUSB):c.1066-16C>T rs758677498 0.00002
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185 0.00002
NM_000181.4(GUSB):c.1244+1G>A rs765969571 0.00002
NM_000181.4(GUSB):c.1270C>A (p.His424Asn) rs866996794 0.00002
NM_000181.4(GUSB):c.1654-4C>T rs563449417 0.00002
NM_000181.4(GUSB):c.1790-2dup rs764071830 0.00002
NM_000181.4(GUSB):c.1942A>C (p.Ser648Arg) rs776024156 0.00002
NM_000181.4(GUSB):c.397-19G>A rs759668020 0.00002
NM_000181.4(GUSB):c.553A>C (p.Thr185Pro) rs755465262 0.00002
NM_000181.4(GUSB):c.697G>A (p.Val233Ile) rs202210104 0.00002
NM_000181.4(GUSB):c.813G>A (p.Ala271=) rs150999162 0.00002
NM_000181.4(GUSB):c.1023A>G (p.Lys341=) rs774381911 0.00001
NM_000181.4(GUSB):c.1050G>A (p.Lys350=) rs121918182 0.00001
NM_000181.4(GUSB):c.1061C>T (p.Ala354Val) rs121918175 0.00001
NM_000181.4(GUSB):c.1065+4T>C rs778151820 0.00001
NM_000181.4(GUSB):c.1091C>T (p.Pro364Leu) rs771629102 0.00001
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) rs121918173 0.00001
NM_000181.4(GUSB):c.1145G>A (p.Arg382His) rs764018631 0.00001
NM_000181.4(GUSB):c.1212C>T (p.Ile404=) rs375214425 0.00001
NM_000181.4(GUSB):c.1222C>T (p.Pro408Ser) rs779091113 0.00001
NM_000181.4(GUSB):c.1245-4G>A rs548368848 0.00001
NM_000181.4(GUSB):c.1325C>T (p.Ala442Val) rs763845326 0.00001
NM_000181.4(GUSB):c.1326G>A (p.Ala442=) rs1226319325 0.00001
NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter) rs1434169374 0.00001
NM_000181.4(GUSB):c.1521G>A (p.Trp507Ter) rs121918179 0.00001
NM_000181.4(GUSB):c.1623T>C (p.Tyr541=) rs769788461 0.00001
NM_000181.4(GUSB):c.163C>T (p.Arg55Ter) rs1210475838 0.00001
NM_000181.4(GUSB):c.1651C>T (p.Gln551Ter) rs1344332366 0.00001
NM_000181.4(GUSB):c.170G>T (p.Arg57Leu) rs769252159 0.00001
NM_000181.4(GUSB):c.1741G>A (p.Val581Met) rs150304382 0.00001
NM_000181.4(GUSB):c.1791A>G (p.Ser597=) rs767115386 0.00001
NM_000181.4(GUSB):c.1816A>G (p.Lys606Glu) rs1325465494 0.00001
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys) rs121918184 0.00001
NM_000181.4(GUSB):c.1887T>G (p.Ile629Met) rs756035101 0.00001
NM_000181.4(GUSB):c.1929A>G (p.Gln643=) rs764493374 0.00001
NM_000181.4(GUSB):c.196C>T (p.Arg66Trp) rs776085845 0.00001
NM_000181.4(GUSB):c.200C>T (p.Pro67Leu) rs948834547 0.00001
NM_000181.4(GUSB):c.210+11G>C rs886062403 0.00001
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp) rs786205673 0.00001
NM_000181.4(GUSB):c.394G>A (p.Val132Met) rs769151272 0.00001
NM_000181.4(GUSB):c.396+15G>T rs757135258 0.00001
NM_000181.4(GUSB):c.414C>T (p.Asp138=) rs1444763456 0.00001
NM_000181.4(GUSB):c.493C>T (p.Arg165Trp) rs771137253 0.00001
NM_000181.4(GUSB):c.581+16C>T rs768612200 0.00001
NM_000181.4(GUSB):c.581+8C>T rs527730129 0.00001
NM_000181.4(GUSB):c.613T>C (p.Tyr205His) rs367989163 0.00001
NM_000181.4(GUSB):c.658C>G (p.Leu220Val) rs760324067 0.00001
NM_000181.4(GUSB):c.666G>A (p.Thr222=) rs773822519 0.00001
NM_000181.4(GUSB):c.669A>T (p.Thr223=) rs201178083 0.00001
NM_000181.4(GUSB):c.681C>T (p.Tyr227=) rs1791831745 0.00001
NM_000181.4(GUSB):c.760A>C (p.Asn254His) rs150086524 0.00001
NM_000181.4(GUSB):c.7C>T (p.Arg3Trp) rs750955623 0.00001
NM_000181.4(GUSB):c.861C>T (p.Leu287=) rs753430922 0.00001
NM_000181.4(GUSB):c.870G>A (p.Pro290=) rs377665214 0.00001
NM_000181.4(GUSB):c.955T>C (p.Phe319Leu) rs757549474 0.00001
NM_000181.4(GUSB):c.959A>C (p.Tyr320Ser) rs886044680 0.00001
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser) rs561880652 0.00001
NC_000007.13:g.(?_65425884)_(65447170_?)dup
NC_000007.14:g.(?_65960877)_(65982203_?)dup
NC_000007.14:g.(?_65960877)_(66092932_?)del
NC_000007.14:g.(?_65967711)_(65970386_?)del
NC_000007.14:g.(?_65970262)_(65970386_?)del
NC_000007.14:g.(?_65974275)_(65982203_?)del
NC_000007.14:g.65974442del
NM_000181.4(GUSB):c.1002C>T (p.Ser334=) rs1166045525
NM_000181.4(GUSB):c.1026T>G (p.Pro342=)
NM_000181.4(GUSB):c.1038C>T (p.His346=)
NM_000181.4(GUSB):c.1044C>T (p.Val348=)
NM_000181.4(GUSB):c.1047del (p.Asn349fs)
NM_000181.4(GUSB):c.1056G>A (p.Glu352=)
NM_000181.4(GUSB):c.1065+11G>A
NM_000181.4(GUSB):c.1065+18G>A
NM_000181.4(GUSB):c.1066-11C>T
NM_000181.4(GUSB):c.1066-20T>C
NM_000181.4(GUSB):c.1066-4del
NM_000181.4(GUSB):c.1066-6T>C
NM_000181.4(GUSB):c.1066-6_1066-5del
NM_000181.4(GUSB):c.1066-7C>A
NM_000181.4(GUSB):c.1066-9A>G
NM_000181.4(GUSB):c.1077G>A (p.Lys359=)
NM_000181.4(GUSB):c.1083C>T (p.Phe361=)
NM_000181.4(GUSB):c.1092G>A (p.Pro364=)
NM_000181.4(GUSB):c.1096C>T (p.Leu366=)
NM_000181.4(GUSB):c.1098G>A (p.Leu366=)
NM_000181.4(GUSB):c.10G>A (p.Gly4Arg)
NM_000181.4(GUSB):c.1116G>A (p.Leu372=)
NM_000181.4(GUSB):c.1119T>G (p.Leu373=)
NM_000181.4(GUSB):c.111G>A (p.Glu37=)
NM_000181.4(GUSB):c.112T>C (p.Cys38Arg)
NM_000181.4(GUSB):c.1134C>T (p.Ala378=)
NM_000181.4(GUSB):c.1135A>T (p.Asn379Tyr) rs1207640167
NM_000181.4(GUSB):c.1136A>G (p.Asn379Ser) rs1289930946
NM_000181.4(GUSB):c.1143C>T (p.Phe381=)
NM_000181.4(GUSB):c.1149C>T (p.Thr383=)
NM_000181.4(GUSB):c.114C>T (p.Cys38=)
NM_000181.4(GUSB):c.1161C>G (p.Pro387=) rs1791437300
NM_000181.4(GUSB):c.1167A>C (p.Ala389=)
NM_000181.4(GUSB):c.1167A>G (p.Ala389=)
NM_000181.4(GUSB):c.117G>A (p.Lys39=)
NM_000181.4(GUSB):c.1182G>A (p.Gln394=)
NM_000181.4(GUSB):c.11_12del (p.Gly4fs)
NM_000181.4(GUSB):c.120G>A (p.Glu40=)
NM_000181.4(GUSB):c.1227C>T (p.Gly409=)
NM_000181.4(GUSB):c.1230G>C (p.Val410=)
NM_000181.4(GUSB):c.1239G>A (p.Ala413=)
NM_000181.4(GUSB):c.1244+15T>C
NM_000181.4(GUSB):c.1244+16G>A
NM_000181.4(GUSB):c.1244+19C>T
NM_000181.4(GUSB):c.1244+20C>G
NM_000181.4(GUSB):c.1245-11C>T
NM_000181.4(GUSB):c.1245-14C>T
NM_000181.4(GUSB):c.1245-19C>A
NM_000181.4(GUSB):c.1245-19C>T rs995961802
NM_000181.4(GUSB):c.1245-5C>T
NM_000181.4(GUSB):c.1245-8G>A
NM_000181.4(GUSB):c.1273C>A (p.His425Asn)
NM_000181.4(GUSB):c.1275C>T (p.His425=)
NM_000181.4(GUSB):c.1285G>T (p.Val429Leu)
NM_000181.4(GUSB):c.1288A>C (p.Met430Leu) rs768428238
NM_000181.4(GUSB):c.129C>A (p.Gly43=)
NM_000181.4(GUSB):c.12G>A (p.Gly4=)
NM_000181.4(GUSB):c.1300G>A (p.Val434Met)
NM_000181.4(GUSB):c.1320C>T (p.His440=)
NM_000181.4(GUSB):c.1323C>T (p.Pro441=)
NM_000181.4(GUSB):c.1326G>C (p.Ala442=)
NM_000181.4(GUSB):c.1330G>A (p.Val444Met)
NM_000181.4(GUSB):c.1341T>C (p.Ser447=)
NM_000181.4(GUSB):c.1349A>G (p.Asn450Ser) rs2115949680
NM_000181.4(GUSB):c.1350C>T (p.Asn450=)
NM_000181.4(GUSB):c.1356T>C (p.Pro452=)
NM_000181.4(GUSB):c.1358C>T (p.Ala453Val) rs912985278
NM_000181.4(GUSB):c.1374T>C (p.Ser458=)
NM_000181.4(GUSB):c.1382A>T (p.Tyr461Phe)
NM_000181.4(GUSB):c.1383C>T (p.Tyr461=)
NM_000181.4(GUSB):c.138C>T (p.Ser46=)
NM_000181.4(GUSB):c.1391+11C>T
NM_000181.4(GUSB):c.1391+12C>T
NM_000181.4(GUSB):c.1391+13T>G
NM_000181.4(GUSB):c.1391+14C>T
NM_000181.4(GUSB):c.1391+17T>C
NM_000181.4(GUSB):c.1391+18G>C
NM_000181.4(GUSB):c.1391+5G>A
NM_000181.4(GUSB):c.1392-12T>C
NM_000181.4(GUSB):c.1392-14C>T
NM_000181.4(GUSB):c.1401C>A (p.Ile467=)
NM_000181.4(GUSB):c.1401C>T (p.Ile467=)
NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr) rs1302470051
NM_000181.4(GUSB):c.1417T>C (p.Leu473=)
NM_000181.4(GUSB):c.141C>T (p.Phe47=)
NM_000181.4(GUSB):c.1421A>G (p.Asp474Gly)
NM_000181.4(GUSB):c.1423C>A (p.Pro475Thr)
NM_000181.4(GUSB):c.1425C>T (p.Pro475=) rs1791109537
NM_000181.4(GUSB):c.1430G>A (p.Arg477Gln)
NM_000181.4(GUSB):c.1431G>A (p.Arg477=)
NM_000181.4(GUSB):c.1431G>T (p.Arg477=)
NM_000181.4(GUSB):c.1455T>C (p.Ser485=)
NM_000181.4(GUSB):c.1455dup (p.Asn486Ter)
NM_000181.4(GUSB):c.1457_1460del (p.Asn486fs)
NM_000181.4(GUSB):c.1476+10G>A
NM_000181.4(GUSB):c.1476+13G>T
NM_000181.4(GUSB):c.1476+13del rs2115900599
NM_000181.4(GUSB):c.1476+13dup
NM_000181.4(GUSB):c.1476+15C>T
NM_000181.4(GUSB):c.1476+16C>T
NM_000181.4(GUSB):c.1476+18C>A
NM_000181.4(GUSB):c.1476+18C>T
NM_000181.4(GUSB):c.1476+20C>A
NM_000181.4(GUSB):c.1476+20C>T
NM_000181.4(GUSB):c.1476+3G>A rs886042522
NM_000181.4(GUSB):c.1476_1476+13del
NM_000181.4(GUSB):c.1477-16G>T
NM_000181.4(GUSB):c.1477-18C>T
NM_000181.4(GUSB):c.1477-1G>C
NM_000181.4(GUSB):c.1477-2A>G
NM_000181.4(GUSB):c.1477-5C>T
NM_000181.4(GUSB):c.1477-9T>C
NM_000181.4(GUSB):c.1482G>A (p.Pro494=) rs548880426
NM_000181.4(GUSB):c.1484A>G (p.Tyr495Cys) rs121918178
NM_000181.4(GUSB):c.14C>T (p.Ser5Leu)
NM_000181.4(GUSB):c.1506C>T (p.Asn502=)
NM_000181.4(GUSB):c.1509C>T (p.Ser503=)
NM_000181.4(GUSB):c.1515C>T (p.Tyr505=)
NM_000181.4(GUSB):c.1527C>A (p.His509Gln)
NM_000181.4(GUSB):c.1527C>T (p.His509=) rs201928248
NM_000181.4(GUSB):c.1530C>T (p.Asp510=)
NM_000181.4(GUSB):c.1533C>T (p.Tyr511=)
NM_000181.4(GUSB):c.1536G>A (p.Gly512=) rs1282778009
NM_000181.4(GUSB):c.1581C>T (p.Asn527=)
NM_000181.4(GUSB):c.15G>A (p.Ser5=)
NM_000181.4(GUSB):c.1602G>A (p.Lys534=)
NM_000181.4(GUSB):c.1605C>T (p.Pro535=)
NM_000181.4(GUSB):c.1635G>A (p.Thr545=)
NM_000181.4(GUSB):c.1644G>A (p.Gly548=)
NM_000181.4(GUSB):c.1653+15G>A
NM_000181.4(GUSB):c.1653+17T>C
NM_000181.4(GUSB):c.1654-10T>C
NM_000181.4(GUSB):c.1654-10T>G
NM_000181.4(GUSB):c.1654-11T>C
NM_000181.4(GUSB):c.1654-12C>G
NM_000181.4(GUSB):c.1654-12C>T
NM_000181.4(GUSB):c.1654-14G>A
NM_000181.4(GUSB):c.1654-14G>T
NM_000181.4(GUSB):c.1654-1G>A
NM_000181.4(GUSB):c.1654-3T>C
NM_000181.4(GUSB):c.1654-7A>G
NM_000181.4(GUSB):c.1654-9G>A
NM_000181.4(GUSB):c.1663C>T (p.Leu555=)
NM_000181.4(GUSB):c.169C>G (p.Arg57Gly) rs772676579
NM_000181.4(GUSB):c.1703A>G (p.Gln568Arg)
NM_000181.4(GUSB):c.1704G>A (p.Gln568=)
NM_000181.4(GUSB):c.1729C>T (p.Arg577Cys)
NM_000181.4(GUSB):c.1756dup (p.Ile586fs)
NM_000181.4(GUSB):c.1770C>T (p.Ala590=)
NM_000181.4(GUSB):c.177C>T (p.Phe59=)
NM_000181.4(GUSB):c.1782T>C (p.Thr594=)
NM_000181.4(GUSB):c.1782T>G (p.Thr594=)
NM_000181.4(GUSB):c.1789+10A>C
NM_000181.4(GUSB):c.1790-11T>C
NM_000181.4(GUSB):c.1790-11T>G
NM_000181.4(GUSB):c.1790-18T>C
NM_000181.4(GUSB):c.1790-20T>A
NM_000181.4(GUSB):c.1790-21_1790-20del
NM_000181.4(GUSB):c.1790-4G>T rs879010457
NM_000181.4(GUSB):c.1790-5del rs750022485
NM_000181.4(GUSB):c.1792C>G (p.Pro598Ala)
NM_000181.4(GUSB):c.1794G>A (p.Pro598=)
NM_000181.4(GUSB):c.1797G>A (p.Thr599=)
NM_000181.4(GUSB):c.1798dup (p.Arg600fs)
NM_000181.4(GUSB):c.17C>A (p.Ala6Glu)
NM_000181.4(GUSB):c.1804C>T (p.Leu602=)
NM_000181.4(GUSB):c.1809G>A (p.Gly603=)
NM_000181.4(GUSB):c.1809dup (p.Asn604fs)
NM_000181.4(GUSB):c.180G>A (p.Glu60=)
NM_000181.4(GUSB):c.1820G>C (p.Gly607Ala)
NM_000181.4(GUSB):c.1829C>T (p.Thr610Ile)
NM_000181.4(GUSB):c.1854A>G (p.Ala618=)
NM_000181.4(GUSB):c.1857G>C (p.Ala619=)
NM_000181.4(GUSB):c.185A>C (p.Gln62Pro)
NM_000181.4(GUSB):c.185A>G (p.Gln62Arg) rs571736757
NM_000181.4(GUSB):c.1865T>A (p.Leu622Ter)
NM_000181.4(GUSB):c.1872_1875del (p.Glu624fs)
NM_000181.4(GUSB):c.1872_1875dup (p.Tyr626fs)
NM_000181.4(GUSB):c.1874_1875del (p.Arg625fs) rs935464108
NM_000181.4(GUSB):c.1877A>G (p.Tyr626Cys)
NM_000181.4(GUSB):c.1880G>A (p.Trp627Ter) rs1236992554
NM_000181.4(GUSB):c.1886T>C (p.Ile629Thr)
NM_000181.4(GUSB):c.1896A>G (p.Glu632=)
NM_000181.4(GUSB):c.18G>A (p.Ala6=)
NM_000181.4(GUSB):c.18G>C (p.Ala6=)
NM_000181.4(GUSB):c.1905T>C (p.Tyr635=)
NM_000181.4(GUSB):c.190del (p.Tyr64fs)
NM_000181.4(GUSB):c.1911C>T (p.His637=)
NM_000181.4(GUSB):c.1916_1918dup (p.Val639dup) rs770237165
NM_000181.4(GUSB):c.1926A>G (p.Ser642=)
NM_000181.4(GUSB):c.1927C>T (p.Gln643Ter)
NM_000181.4(GUSB):c.192C>T (p.Tyr64=)
NM_000181.4(GUSB):c.1945C>T (p.Leu649=)
NM_000181.4(GUSB):c.1946_1947inv (p.Leu649Pro)
NM_000181.4(GUSB):c.201G>T (p.Pro67=)
NM_000181.4(GUSB):c.210+13G>A
NM_000181.4(GUSB):c.210+16A>C
NM_000181.4(GUSB):c.210+20C>T
NM_000181.4(GUSB):c.210+5G>A
NM_000181.4(GUSB):c.210+5G>C
NM_000181.4(GUSB):c.211-15C>T
NM_000181.4(GUSB):c.211-16G>A
NM_000181.4(GUSB):c.211-17G>A
NM_000181.4(GUSB):c.211-17G>C rs749802416
NM_000181.4(GUSB):c.211-18C>G
NM_000181.4(GUSB):c.211-20C>G
NM_000181.4(GUSB):c.211-20C>T
NM_000181.4(GUSB):c.211-7T>C rs1299733589
NM_000181.4(GUSB):c.222C>G (p.Thr74=)
NM_000181.4(GUSB):c.22G>T (p.Ala8Ser) rs376505707
NM_000181.4(GUSB):c.230T>G (p.Met77Arg) rs751845855
NM_000181.4(GUSB):c.238C>G (p.Pro80Ala)
NM_000181.4(GUSB):c.240C>T (p.Pro80=)
NM_000181.4(GUSB):c.245G>A (p.Ser82Asn)
NM_000181.4(GUSB):c.24C>T (p.Ala8=)
NM_000181.4(GUSB):c.24del (p.Trp9fs)
NM_000181.4(GUSB):c.251A>G (p.Asn84Ser)
NM_000181.4(GUSB):c.252T>C (p.Asn84=)
NM_000181.4(GUSB):c.288C>T (p.Val96=)
NM_000181.4(GUSB):c.297G>A (p.Val99=)
NM_000181.4(GUSB):c.303C>T (p.Tyr101=)
NM_000181.4(GUSB):c.306A>G (p.Glu102=) rs2116042007
NM_000181.4(GUSB):c.309G>A (p.Arg103=)
NM_000181.4(GUSB):c.30G>A (p.Ala10=)
NM_000181.4(GUSB):c.320del (p.Leu107fs)
NM_000181.4(GUSB):c.325G>T (p.Glu109Ter)
NM_000181.4(GUSB):c.338A>G (p.Gln113Arg) rs1791915416
NM_000181.4(GUSB):c.342C>T (p.Asp114=)
NM_000181.4(GUSB):c.366G>A (p.Arg122=)
NM_000181.4(GUSB):c.36C>T (p.Leu12=)
NM_000181.4(GUSB):c.373A>C (p.Ser125Arg) rs2116040590
NM_000181.4(GUSB):c.383C>T (p.Ser128Phe)
NM_000181.4(GUSB):c.38G>A (p.Gly13Glu) rs1237078772
NM_000181.4(GUSB):c.390C>T (p.Ala130=)
NM_000181.4(GUSB):c.393C>T (p.Ile131=)
NM_000181.4(GUSB):c.396+13A>G
NM_000181.4(GUSB):c.396+14G>A
NM_000181.4(GUSB):c.396+15G>C
NM_000181.4(GUSB):c.396+17G>A
NM_000181.4(GUSB):c.396+1G>A
NM_000181.4(GUSB):c.396+8C>T
NM_000181.4(GUSB):c.396+9G>A
NM_000181.4(GUSB):c.397-10G>A
NM_000181.4(GUSB):c.397-10G>C
NM_000181.4(GUSB):c.397-15C>T
NM_000181.4(GUSB):c.397-19G>T
NM_000181.4(GUSB):c.397-20dup rs765594686
NM_000181.4(GUSB):c.397-9del
NM_000181.4(GUSB):c.408G>A (p.Gly136=)
NM_000181.4(GUSB):c.411C>T (p.Val137=)
NM_000181.4(GUSB):c.417G>A (p.Thr139=)
NM_000181.4(GUSB):c.420A>C (p.Leu140=)
NM_000181.4(GUSB):c.429G>A (p.Glu143=)
NM_000181.4(GUSB):c.429G>T (p.Glu143Asp)
NM_000181.4(GUSB):c.42G>T (p.Pro14=)
NM_000181.4(GUSB):c.434del (p.Gly145fs)
NM_000181.4(GUSB):c.444C>T (p.Pro148=)
NM_000181.4(GUSB):c.450G>C (p.Glu150Asp) rs764486500
NM_000181.4(GUSB):c.453C>G (p.Ala151=) rs144397476
NM_000181.4(GUSB):c.453C>T (p.Ala151=)
NM_000181.4(GUSB):c.456C>T (p.Asp152=) rs1420034681
NM_000181.4(GUSB):c.45G>A (p.Leu15=) rs886062404
NM_000181.4(GUSB):c.462C>T (p.Ser154=)
NM_000181.4(GUSB):c.464_475del (p.Asn155_Val159delinsMet)
NM_000181.4(GUSB):c.465C>G (p.Asn155Lys)
NM_000181.4(GUSB):c.466C>T (p.Leu156=) rs1410086265
NM_000181.4(GUSB):c.484C>T (p.Leu162=)
NM_000181.4(GUSB):c.486G>A (p.Leu162=)
NM_000181.4(GUSB):c.48G>A (p.Leu16=)
NM_000181.4(GUSB):c.492C>T (p.Ser164=)
NM_000181.4(GUSB):c.499C>T (p.Arg167Ter)
NM_000181.4(GUSB):c.501A>C (p.Arg167=)
NM_000181.4(GUSB):c.507dup (p.Ile170fs)
NM_000181.4(GUSB):c.525A>G (p.Thr175=)
NM_000181.4(GUSB):c.527_530del (p.Leu176fs)
NM_000181.4(GUSB):c.532C>T (p.Pro178Ser) rs11559281
NM_000181.4(GUSB):c.536C>T (p.Thr179Ile) rs1427132394
NM_000181.4(GUSB):c.552G>A (p.Gly184=) rs768029322
NM_000181.4(GUSB):c.555C>G (p.Thr185=)
NM_000181.4(GUSB):c.555C>T (p.Thr185=)
NM_000181.4(GUSB):c.556A>C (p.Ile186Leu)
NM_000181.4(GUSB):c.560_581+13del
NM_000181.4(GUSB):c.570T>C (p.Thr190=)
NM_000181.4(GUSB):c.57C>T (p.Cys19=) rs573989102
NM_000181.4(GUSB):c.581+10A>G rs1233559582
NM_000181.4(GUSB):c.581+12C>G
NM_000181.4(GUSB):c.581+17C>T
NM_000181.4(GUSB):c.581+1G>A
NM_000181.4(GUSB):c.581+20C>T
NM_000181.4(GUSB):c.581+8C>G
NM_000181.4(GUSB):c.581+9C>T
NM_000181.4(GUSB):c.582-12C>G
NM_000181.4(GUSB):c.582-12C>T
NM_000181.4(GUSB):c.582-15G>A
NM_000181.4(GUSB):c.582-19C>G
NM_000181.4(GUSB):c.582-20C>G
NM_000181.4(GUSB):c.582-7A>C
NM_000181.4(GUSB):c.582-9C>T
NM_000181.4(GUSB):c.604C>T (p.Gln202Ter)
NM_000181.4(GUSB):c.60G>A (p.Ala20=)
NM_000181.4(GUSB):c.612A>G (p.Thr204=)
NM_000181.4(GUSB):c.614A>G (p.Tyr205Cys) rs2116029247
NM_000181.4(GUSB):c.615T>C (p.Tyr205=)
NM_000181.4(GUSB):c.621C>T (p.Asp207=)
NM_000181.4(GUSB):c.639A>G (p.Gly213=)
NM_000181.4(GUSB):c.643C>T (p.Gln215Ter)
NM_000181.4(GUSB):c.647G>A (p.Arg216Gln) rs1791836120
NM_000181.4(GUSB):c.657T>G (p.Leu219=) rs764393614
NM_000181.4(GUSB):c.658C>T (p.Leu220=)
NM_000181.4(GUSB):c.666G>T (p.Thr222=)
NM_000181.4(GUSB):c.66G>A (p.Gly22=)
NM_000181.4(GUSB):c.66G>T (p.Gly22=)
NM_000181.4(GUSB):c.684C>T (p.Ile228=) rs375590538
NM_000181.4(GUSB):c.694A>G (p.Thr232Ala) rs1332406445
NM_000181.4(GUSB):c.695C>T (p.Thr232Ile)
NM_000181.4(GUSB):c.696C>T (p.Thr232=)
NM_000181.4(GUSB):c.6C>G (p.Ala2=)
NM_000181.4(GUSB):c.6C>T (p.Ala2=)
NM_000181.4(GUSB):c.708C>T (p.Ser236=)
NM_000181.4(GUSB):c.724+17G>C rs2116026712
NM_000181.4(GUSB):c.724+1G>T rs2116026958
NM_000181.4(GUSB):c.725-11G>A
NM_000181.4(GUSB):c.725-12T>C
NM_000181.4(GUSB):c.725-14C>A
NM_000181.4(GUSB):c.725-18C>A
NM_000181.4(GUSB):c.725-18C>G rs754699640
NM_000181.4(GUSB):c.725-18C>T
NM_000181.4(GUSB):c.725-18CT[2] rs1173385478
NM_000181.4(GUSB):c.725-4G>A
NM_000181.4(GUSB):c.725-7C>G
NM_000181.4(GUSB):c.725-8dup rs768444459
NM_000181.4(GUSB):c.727C>T (p.Leu243=)
NM_000181.4(GUSB):c.729G>A (p.Leu243=)
NM_000181.4(GUSB):c.738C>G (p.Tyr246Ter)
NM_000181.4(GUSB):c.738C>T (p.Tyr246=)
NM_000181.4(GUSB):c.739C>T (p.Gln247Ter)
NM_000181.4(GUSB):c.744C>T (p.Ile248=)
NM_000181.4(GUSB):c.74dup (p.Gly26fs)
NM_000181.4(GUSB):c.75C>T (p.Gly25=)
NM_000181.4(GUSB):c.762C>T (p.Asn254=)
NM_000181.4(GUSB):c.765G>T (p.Leu255=) rs2115977392
NM_000181.4(GUSB):c.768C>T (p.Phe256=)
NM_000181.4(GUSB):c.76_79dup (p.Met27fs)
NM_000181.4(GUSB):c.781C>G (p.Arg261Gly)
NM_000181.4(GUSB):c.78G>T (p.Gly26=)
NM_000181.4(GUSB):c.792T>C (p.Asp264=)
NM_000181.4(GUSB):c.805G>C (p.Val269Leu) rs755211573
NM_000181.4(GUSB):c.808G>A (p.Val270Met)
NM_000181.4(GUSB):c.812C>A (p.Ala271Glu)
NM_000181.4(GUSB):c.812C>T (p.Ala271Val)
NM_000181.4(GUSB):c.813G>T (p.Ala271=)
NM_000181.4(GUSB):c.828C>T (p.Thr276=)
NM_000181.4(GUSB):c.867_871del (p.Trp289_Tyr291delinsTer)
NM_000181.4(GUSB):c.873C>T (p.Tyr291=)
NM_000181.4(GUSB):c.87C>T (p.Tyr29=)
NM_000181.4(GUSB):c.882C>T (p.His294=) rs766837276
NM_000181.4(GUSB):c.883G>A (p.Glu295Lys)
NM_000181.4(GUSB):c.906A>G (p.Ser302=)
NM_000181.4(GUSB):c.907T>C (p.Leu303=)
NM_000181.4(GUSB):c.90C>G (p.Pro30=)
NM_000181.4(GUSB):c.90C>T (p.Pro30=)
NM_000181.4(GUSB):c.912+15G>C
NM_000181.4(GUSB):c.912+18C>G
NM_000181.4(GUSB):c.912+19A>G
NM_000181.4(GUSB):c.913-16G>A rs2115962921
NM_000181.4(GUSB):c.913-17T>C
NM_000181.4(GUSB):c.913-18G>C
NM_000181.4(GUSB):c.916C>T (p.Gln306Ter)
NM_000181.4(GUSB):c.91C>T (p.Gln31Ter)
NM_000181.4(GUSB):c.927A>C (p.Ala309=)
NM_000181.4(GUSB):c.932dup (p.Ser312fs)
NM_000181.4(GUSB):c.937C>T (p.Leu313=)
NM_000181.4(GUSB):c.93G>A (p.Gln31=)
NM_000181.4(GUSB):c.942G>A (p.Gly314=)
NM_000181.4(GUSB):c.945T>C (p.Pro315=)
NM_000181.4(GUSB):c.948G>A (p.Val316=)
NM_000181.4(GUSB):c.953A>G (p.Asp318Gly)
NM_000181.4(GUSB):c.954C>T (p.Asp318=)
NM_000181.4(GUSB):c.960C>T (p.Tyr320=)
NM_000181.4(GUSB):c.963A>T (p.Thr321=)
NM_000181.4(GUSB):c.966C>A (p.Leu322=)
NM_000181.4(GUSB):c.970G>A (p.Val324Met)
NM_000181.4(GUSB):c.979C>T (p.Arg327Cys)
NM_000181.4(GUSB):c.99C>T (p.Ser33=)
NM_000181.4(GUSB):c.9G>T (p.Arg3=)

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