ClinVar Miner

List of variants in gene GUSB studied for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 595
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000181.4(GUSB):c.1065+27C>G rs781143 0.52153
NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro) rs9530 0.50676
NM_000181.4(GUSB):c.1740C>T (p.Tyr580=) rs1061361 0.10871
NM_000181.3(GUSB):c.-72G>T rs2279904 0.03621
NM_000181.4(GUSB):c.*172A>G rs77293332 0.02406
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 0.00473
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 0.00236
NM_000181.4(GUSB):c.1359G>A (p.Ala453=) rs118066970 0.00208
NM_000181.4(GUSB):c.1041T>C (p.Gly347=) rs141303888 0.00190
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.*94A>G rs536903750 0.00111
NM_000181.4(GUSB):c.764T>A (p.Leu255Gln) rs140709901 0.00063
NM_000181.4(GUSB):c.*55C>T rs372605666 0.00060
NM_000181.4(GUSB):c.1461T>C (p.Tyr487=) rs200831987 0.00049
NM_000181.4(GUSB):c.684C>A (p.Ile228=) rs375590538 0.00045
NM_000181.4(GUSB):c.678C>T (p.Thr226=) rs537957979 0.00037
NM_000181.4(GUSB):c.1240C>T (p.Leu414=) rs150686327 0.00022
NM_000181.4(GUSB):c.13T>C (p.Ser5Pro) rs190496263 0.00022
NM_000181.3(GUSB):c.-50C>T rs201504866 0.00019
NM_000181.4(GUSB):c.397-9del rs1362952478 0.00019
NM_000181.4(GUSB):c.1291G>A (p.Glu431Lys) rs143040697 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.1329C>T (p.Val443=) rs139776224 0.00016
NM_000181.4(GUSB):c.147C>T (p.Ala49=) rs375940373 0.00016
NM_000181.4(GUSB):c.695C>G (p.Thr232Ser) rs138618819 0.00016
NM_000181.4(GUSB):c.157G>A (p.Asp53Asn) rs371314015 0.00015
NM_000181.4(GUSB):c.933G>A (p.Thr311=) rs188921177 0.00013
NM_000181.4(GUSB):c.725-11G>A rs1057205332 0.00012
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.211-8C>G rs2293340 0.00010
NM_000181.4(GUSB):c.582-17C>T rs760650363 0.00010
NM_000181.4(GUSB):c.-10A>T rs540793200 0.00009
NM_000181.4(GUSB):c.1244+17C>T rs199587731 0.00009
NM_000181.4(GUSB):c.1391+5G>A rs768780031 0.00009
NM_000181.4(GUSB):c.202C>T (p.Leu68=) rs746199104 0.00009
NM_000181.4(GUSB):c.211-18C>T rs774828816 0.00008
NM_000181.4(GUSB):c.1083C>T (p.Phe361=) rs139976112 0.00007
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.633C>T (p.Tyr211=) rs140278510 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.807C>T (p.Val269=) rs571704452 0.00006
NM_000181.4(GUSB):c.871T>A (p.Tyr291Asn) rs760452541 0.00006
NM_000181.4(GUSB):c.1050G>A (p.Lys350=) rs121918182 0.00005
NM_000181.4(GUSB):c.1137C>T (p.Asn379=) rs371271170 0.00005
NM_000181.4(GUSB):c.1138G>A (p.Ala380Thr) rs377615121 0.00005
NM_000181.4(GUSB):c.408G>A (p.Gly136=) rs1489166272 0.00005
NM_000181.4(GUSB):c.532C>A (p.Pro178Thr) rs11559281 0.00005
NM_000181.4(GUSB):c.813G>A (p.Ala271=) rs150999162 0.00005
NM_000181.4(GUSB):c.828C>T (p.Thr276=) rs758263587 0.00005
NM_000181.4(GUSB):c.937C>T (p.Leu313=) rs769871779 0.00005
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser) rs561880652 0.00005
NM_000181.4(GUSB):c.1044C>T (p.Val348=) rs147820162 0.00004
NM_000181.4(GUSB):c.1121G>A (p.Arg374His) rs780716481 0.00004
NM_000181.4(GUSB):c.1244C>T (p.Pro415Leu) rs751025746 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.396+9G>A rs772262663 0.00004
NM_000181.4(GUSB):c.510C>T (p.Ile170=) rs752674900 0.00004
NM_000181.4(GUSB):c.-20C>T rs577269089 0.00003
NM_000181.4(GUSB):c.1062G>A (p.Ala354=) rs554759648 0.00003
NM_000181.4(GUSB):c.1066-16C>T rs758677498 0.00003
NM_000181.4(GUSB):c.1167A>G (p.Ala389=) rs757058191 0.00003
NM_000181.4(GUSB):c.1224C>T (p.Pro408=) rs757418833 0.00003
NM_000181.4(GUSB):c.1238C>T (p.Ala413Val) rs752523400 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.1857G>A (p.Ala619=) rs779147312 0.00003
NM_000181.4(GUSB):c.210+20C>T rs377626207 0.00003
NM_000181.4(GUSB):c.323C>T (p.Pro108Leu) rs1268678201 0.00003
NM_000181.4(GUSB):c.444C>T (p.Pro148=) rs956058239 0.00003
NM_000181.4(GUSB):c.57C>T (p.Cys19=) rs573989102 0.00003
NM_000181.4(GUSB):c.697G>A (p.Val233Ile) rs202210104 0.00003
NM_000181.4(GUSB):c.6C>G (p.Ala2=) rs758903707 0.00003
NM_000181.4(GUSB):c.1065+18G>A rs1316440875 0.00002
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185 0.00002
NM_000181.4(GUSB):c.1193G>A (p.Arg398His) rs776843811 0.00002
NM_000181.4(GUSB):c.1227C>T (p.Gly409=) rs777871501 0.00002
NM_000181.4(GUSB):c.1244+15T>C rs777787457 0.00002
NM_000181.4(GUSB):c.1244+1G>A rs765969571 0.00002
NM_000181.4(GUSB):c.1245-5C>T rs370769242 0.00002
NM_000181.4(GUSB):c.1270C>A (p.His424Asn) rs866996794 0.00002
NM_000181.4(GUSB):c.1323C>T (p.Pro441=) rs368144710 0.00002
NM_000181.4(GUSB):c.1325C>T (p.Ala442Val) rs763845326 0.00002
NM_000181.4(GUSB):c.1350C>T (p.Asn450=) rs376567545 0.00002
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243 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.210+13G>A rs1040637134 0.00002
NM_000181.4(GUSB):c.211-20C>G rs568097786 0.00002
NM_000181.4(GUSB):c.303C>T (p.Tyr101=) rs768778881 0.00002
NM_000181.4(GUSB):c.397-19G>A rs759668020 0.00002
NM_000181.4(GUSB):c.420A>C (p.Leu140=) rs754452177 0.00002
NM_000181.4(GUSB):c.553A>C (p.Thr185Pro) rs755465262 0.00002
NM_000181.4(GUSB):c.75C>T (p.Gly25=) rs1282036764 0.00002
NM_000181.4(GUSB):c.805G>C (p.Val269Leu) rs755211573 0.00002
NM_000181.4(GUSB):c.913-17T>C rs1355123264 0.00002
NM_000181.4(GUSB):c.*148A>G rs568655640 0.00001
NM_000181.4(GUSB):c.-19G>C rs771999951 0.00001
NM_000181.4(GUSB):c.1023A>G (p.Lys341=) rs774381911 0.00001
NM_000181.4(GUSB):c.1038C>T (p.His346=) rs773187021 0.00001
NM_000181.4(GUSB):c.105G>C (p.Ser35=) rs758743865 0.00001
NM_000181.4(GUSB):c.1061C>T (p.Ala354Val) rs121918175 0.00001
NM_000181.4(GUSB):c.1065+11G>A rs756639453 0.00001
NM_000181.4(GUSB):c.1065+4T>C rs778151820 0.00001
NM_000181.4(GUSB):c.1066-9A>G rs765500679 0.00001
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn) rs398123234 0.00001
NM_000181.4(GUSB):c.1091C>T (p.Pro364Leu) rs771629102 0.00001
NM_000181.4(GUSB):c.1092G>A (p.Pro364=) rs759063684 0.00001
NM_000181.4(GUSB):c.1116G>A (p.Leu372=) rs778654745 0.00001
NM_000181.4(GUSB):c.1134C>T (p.Ala378=) rs374755881 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.1182G>A (p.Gln394=) rs369190724 0.00001
NM_000181.4(GUSB):c.120G>A (p.Glu40=) rs1236387993 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.1244+16G>A rs772851630 0.00001
NM_000181.4(GUSB):c.1244+19C>T rs925844481 0.00001
NM_000181.4(GUSB):c.1245-14C>T rs539361188 0.00001
NM_000181.4(GUSB):c.1245-4G>A rs548368848 0.00001
NM_000181.4(GUSB):c.1275C>T (p.His425=) rs748423878 0.00001
NM_000181.4(GUSB):c.1285G>A (p.Val429Met) rs376131143 0.00001
NM_000181.4(GUSB):c.1326G>A (p.Ala442=) rs1226319325 0.00001
NM_000181.4(GUSB):c.1330G>A (p.Val444Met) rs1791414185 0.00001
NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter) rs1434169374 0.00001
NM_000181.4(GUSB):c.1391+11C>T rs1281796192 0.00001
NM_000181.4(GUSB):c.1401C>T (p.Ile467=) rs764344489 0.00001
NM_000181.4(GUSB):c.1476+13G>T rs765708408 0.00001
NM_000181.4(GUSB):c.1476+15C>T rs879074261 0.00001
NM_000181.4(GUSB):c.1476+18C>T rs946592201 0.00001
NM_000181.4(GUSB):c.14C>T (p.Ser5Leu) rs535382125 0.00001
NM_000181.4(GUSB):c.163C>T (p.Arg55Ter) rs1210475838 0.00001
NM_000181.4(GUSB):c.1654-10T>C rs776105120 0.00001
NM_000181.4(GUSB):c.1654-14G>T rs761874655 0.00001
NM_000181.4(GUSB):c.1654-3T>C rs763536228 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.1742T>C (p.Val581Ala) rs765136502 0.00001
NM_000181.4(GUSB):c.1771G>A (p.Asp591Asn) rs1251087003 0.00001
NM_000181.4(GUSB):c.177C>T (p.Phe59=) rs1258479116 0.00001
NM_000181.4(GUSB):c.1790-18T>C rs763997663 0.00001
NM_000181.4(GUSB):c.1790-20T>A rs1165609185 0.00001
NM_000181.4(GUSB):c.1791A>G (p.Ser597=) rs767115386 0.00001
NM_000181.4(GUSB):c.1792C>G (p.Pro598Ala) rs1166580286 0.00001
NM_000181.4(GUSB):c.1794G>A (p.Pro598=) rs751161248 0.00001
NM_000181.4(GUSB):c.1797G>A (p.Thr599=) rs552724524 0.00001
NM_000181.4(GUSB):c.180G>A (p.Glu60=) rs1306112081 0.00001
NM_000181.4(GUSB):c.1820G>C (p.Gly607Ala) rs1250112198 0.00001
NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp) rs121918176 0.00001
NM_000181.4(GUSB):c.1854A>G (p.Ala618=) rs1372686758 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.192C>T (p.Tyr64=) rs879696482 0.00001
NM_000181.4(GUSB):c.1945C>T (p.Leu649=) rs772478693 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.201G>T (p.Pro67=) rs551892631 0.00001
NM_000181.4(GUSB):c.210+11G>C rs886062403 0.00001
NM_000181.4(GUSB):c.210+16A>C rs1256237207 0.00001
NM_000181.4(GUSB):c.211-17G>A rs749802416 0.00001
NM_000181.4(GUSB):c.251A>G (p.Asn84Ser) rs765042077 0.00001
NM_000181.4(GUSB):c.288C>T (p.Val96=) rs773646634 0.00001
NM_000181.4(GUSB):c.297G>A (p.Val99=) rs1027871667 0.00001
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp) rs786205673 0.00001
NM_000181.4(GUSB):c.309G>A (p.Arg103=) rs1372923780 0.00001
NM_000181.4(GUSB):c.30G>A (p.Ala10=) rs1405881172 0.00001
NM_000181.4(GUSB):c.328C>T (p.Arg110Ter) rs1053785648 0.00001
NM_000181.4(GUSB):c.347G>A (p.Arg116His) rs538431094 0.00001
NM_000181.4(GUSB):c.352A>G (p.Arg118Gly) rs767239546 0.00001
NM_000181.4(GUSB):c.394G>A (p.Val132Met) rs769151272 0.00001
NM_000181.4(GUSB):c.396+14G>A rs778571503 0.00001
NM_000181.4(GUSB):c.396+15G>T rs757135258 0.00001
NM_000181.4(GUSB):c.406G>A (p.Gly136Arg) rs1417426295 0.00001
NM_000181.4(GUSB):c.411C>T (p.Val137=) rs141441283 0.00001
NM_000181.4(GUSB):c.414C>T (p.Asp138=) rs1444763456 0.00001
NM_000181.4(GUSB):c.417G>A (p.Thr139=) rs1791874209 0.00001
NM_000181.4(GUSB):c.456C>T (p.Asp152=) rs1420034681 0.00001
NM_000181.4(GUSB):c.484C>T (p.Leu162=) rs1395188248 0.00001
NM_000181.4(GUSB):c.492C>T (p.Ser164=) rs759593913 0.00001
NM_000181.4(GUSB):c.493C>T (p.Arg165Trp) rs771137253 0.00001
NM_000181.4(GUSB):c.499C>T (p.Arg167Ter) rs769769379 0.00001
NM_000181.4(GUSB):c.501A>C (p.Arg167=) rs1276640900 0.00001
NM_000181.4(GUSB):c.525A>G (p.Thr175=) rs1260639409 0.00001
NM_000181.4(GUSB):c.570T>C (p.Thr190=) rs763253448 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.581+9C>T rs1374269426 0.00001
NM_000181.4(GUSB):c.582-15G>A rs554216436 0.00001
NM_000181.4(GUSB):c.582-19C>G rs763864387 0.00001
NM_000181.4(GUSB):c.60G>A (p.Ala20=) rs969297480 0.00001
NM_000181.4(GUSB):c.612A>G (p.Thr204=) rs781604428 0.00001
NM_000181.4(GUSB):c.613T>C (p.Tyr205His) rs367989163 0.00001
NM_000181.4(GUSB):c.621C>T (p.Asp207=) rs1416000225 0.00001
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp) rs121918174 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.696C>T (p.Thr232=) rs779124500 0.00001
NM_000181.4(GUSB):c.708C>T (p.Ser236=) rs777822251 0.00001
NM_000181.4(GUSB):c.725-4G>A rs2484815549 0.00001
NM_000181.4(GUSB):c.727C>T (p.Leu243=) rs2484815474 0.00001
NM_000181.4(GUSB):c.738C>G (p.Tyr246Ter) rs764866250 0.00001
NM_000181.4(GUSB):c.760A>C (p.Asn254His) rs150086524 0.00001
NM_000181.4(GUSB):c.766T>C (p.Phe256Leu) rs200941434 0.00001
NM_000181.4(GUSB):c.7C>T (p.Arg3Trp) rs750955623 0.00001
NM_000181.4(GUSB):c.808G>A (p.Val270Met) rs1347468886 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.883G>A (p.Glu295Lys) rs1335907021 0.00001
NM_000181.4(GUSB):c.893C>T (p.Ala298Val) rs1451709678 0.00001
NM_000181.4(GUSB):c.906A>G (p.Ser302=) rs1048020478 0.00001
NM_000181.4(GUSB):c.907T>C (p.Leu303=) rs569297611 0.00001
NM_000181.4(GUSB):c.912+18C>G rs778872193 0.00001
NM_000181.4(GUSB):c.912+19A>G rs757284086 0.00001
NM_000181.4(GUSB):c.948G>A (p.Val316=) rs1791475630 0.00001
NM_000181.4(GUSB):c.954C>T (p.Asp318=) rs2484806510 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.960C>T (p.Tyr320=) rs1338584824 0.00001
NM_000181.4(GUSB):c.970G>A (p.Val324Met) rs1791473593 0.00001
NM_000181.4(GUSB):c.979C>T (p.Arg327Cys) rs1363900325 0.00001
NM_000181.4(GUSB):c.9G>T (p.Arg3=) rs757357472 0.00001
NC_000007.13:g.(?_65425884)_(65447170_?)dup
NC_000007.13:g.(?_65435249)_(65435373_?)dup
NC_000007.13:g.(?_65439262)_(65441209_?)del
NC_000007.14:g.(?_65960877)_(65982203_?)dup
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 rs2484800908
NM_000181.4(GUSB):c.*12A>G rs769514976
NM_000181.4(GUSB):c.*154G>A rs1790427973
NM_000181.4(GUSB):c.*208T>C rs190201470
NM_000181.4(GUSB):c.*208T>G rs190201470
NM_000181.4(GUSB):c.1002C>T (p.Ser334=) rs1166045525
NM_000181.4(GUSB):c.1026T>G (p.Pro342=) rs1562687044
NM_000181.4(GUSB):c.102G>T (p.Pro34=)
NM_000181.4(GUSB):c.1046A>G (p.Asn349Ser) rs2484805686
NM_000181.4(GUSB):c.1047del (p.Asn349fs) rs2484805672
NM_000181.4(GUSB):c.104C>A (p.Ser35Ter) rs1238361161
NM_000181.4(GUSB):c.1050G>C (p.Lys350Asn) rs121918182
NM_000181.4(GUSB):c.1051C>T (p.His351Tyr)
NM_000181.4(GUSB):c.1056G>A (p.Glu352=) rs200412277
NM_000181.4(GUSB):c.1066-11C>T rs980469778
NM_000181.4(GUSB):c.1066-20T>C rs1791448938
NM_000181.4(GUSB):c.1066-3T>C rs1057521974
NM_000181.4(GUSB):c.1066-4del rs2484803677
NM_000181.4(GUSB):c.1066-6T>C rs753687921
NM_000181.4(GUSB):c.1066-6_1066-5del rs1341580615
NM_000181.4(GUSB):c.1066-7C>A rs761474178
NM_000181.4(GUSB):c.1070G>T (p.Arg357Leu) rs886527135
NM_000181.4(GUSB):c.1077G>A (p.Lys359=) rs1791445667
NM_000181.4(GUSB):c.107G>T (p.Arg36Leu) rs1264172545
NM_000181.4(GUSB):c.1084_1110del (p.Asp362_Phe370del) rs1791443181
NM_000181.4(GUSB):c.1096C>T (p.Leu366=) rs535768789
NM_000181.4(GUSB):c.1098G>A (p.Leu366=) rs1156491647
NM_000181.4(GUSB):c.10G>A (p.Gly4Arg) rs572131903
NM_000181.4(GUSB):c.1119T>G (p.Leu373=) rs2484803105
NM_000181.4(GUSB):c.111G>A (p.Glu37=) rs746254536
NM_000181.4(GUSB):c.1120C>T (p.Arg374Cys)
NM_000181.4(GUSB):c.112T>C (p.Cys38Arg) rs779499448
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=) rs1583922237
NM_000181.4(GUSB):c.1149C>A (p.Thr383=) rs1250793520
NM_000181.4(GUSB):c.1149C>T (p.Thr383=) rs1250793520
NM_000181.4(GUSB):c.114C>T (p.Cys38=) rs952039719
NM_000181.4(GUSB):c.1161C>G (p.Pro387=) rs1791437300
NM_000181.4(GUSB):c.1161C>T (p.Pro387=)
NM_000181.4(GUSB):c.1167A>C (p.Ala389=) rs757058191
NM_000181.4(GUSB):c.117G>A (p.Lys39=) rs2484857910
NM_000181.4(GUSB):c.1192C>T (p.Arg398Cys) rs749520560
NM_000181.4(GUSB):c.11G>C (p.Gly4Ala) rs1355624664
NM_000181.4(GUSB):c.11_12del (p.Gly4fs) rs1792080911
NM_000181.4(GUSB):c.1215T>C (p.Asp405=)
NM_000181.4(GUSB):c.1230G>C (p.Val410=) rs2484801860
NM_000181.4(GUSB):c.1232G>A (p.Gly411Asp) rs2484801850
NM_000181.4(GUSB):c.1239G>A (p.Ala413=) rs767396235
NM_000181.4(GUSB):c.1244+20C>G rs2484801529
NM_000181.4(GUSB):c.1244+2del
NM_000181.4(GUSB):c.1245-11C>T rs753108318
NM_000181.4(GUSB):c.1245-13T>A
NM_000181.4(GUSB):c.1245-19C>A rs995961802
NM_000181.4(GUSB):c.1245-19C>T rs995961802
NM_000181.4(GUSB):c.1245-4G>T rs548368848
NM_000181.4(GUSB):c.1245-8G>A rs2484800981
NM_000181.4(GUSB):c.1270C>T (p.His424Tyr)
NM_000181.4(GUSB):c.1273C>A (p.His425Asn) rs2484800667
NM_000181.4(GUSB):c.1285G>T (p.Val429Leu) rs376131143
NM_000181.4(GUSB):c.1288A>C (p.Met430Leu) rs768428238
NM_000181.4(GUSB):c.129C>A (p.Gly43=) rs1318093221
NM_000181.4(GUSB):c.12G>A (p.Gly4=) rs753976305
NM_000181.4(GUSB):c.12del (p.Ser5fs)
NM_000181.4(GUSB):c.1300G>A (p.Val434Met) rs1471925349
NM_000181.4(GUSB):c.1320C>T (p.His440=) rs1235958649
NM_000181.4(GUSB):c.1326G>C (p.Ala442=) rs1226319325
NM_000181.4(GUSB):c.1326G>T (p.Ala442=)
NM_000181.4(GUSB):c.1338G>A (p.Trp446Ter) rs121918180
NM_000181.4(GUSB):c.1341T>C (p.Ser447=) rs1313496179
NM_000181.4(GUSB):c.1344G>A (p.Val448=)
NM_000181.4(GUSB):c.1349A>G (p.Asn450Ser) rs2115949680
NM_000181.4(GUSB):c.1356T>C (p.Pro452=) rs1321970104
NM_000181.4(GUSB):c.1358C>T (p.Ala453Val) rs912985278
NM_000181.4(GUSB):c.1374T>C (p.Ser458=) rs1423322372
NM_000181.4(GUSB):c.1382A>T (p.Tyr461Phe) rs2484799442
NM_000181.4(GUSB):c.1383C>T (p.Tyr461=) rs776791543
NM_000181.4(GUSB):c.138C>T (p.Ser46=) rs764321712
NM_000181.4(GUSB):c.1391+12C>T rs2484799330
NM_000181.4(GUSB):c.1391+13T>G rs2484799319
NM_000181.4(GUSB):c.1391+14C>T rs2115948796
NM_000181.4(GUSB):c.1391+17T>C rs1304263543
NM_000181.4(GUSB):c.1391+18G>C rs1791408351
NM_000181.4(GUSB):c.1391+19C>T
NM_000181.4(GUSB):c.1391+5G>T
NM_000181.4(GUSB):c.1391+618_1391+619del rs786200863
NM_000181.4(GUSB):c.1392-12T>C rs2484779870
NM_000181.4(GUSB):c.1392-14C>T rs2484779902
NM_000181.4(GUSB):c.1392-18T>C
NM_000181.4(GUSB):c.1401C>A (p.Ile467=) rs764344489
NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr) rs1302470051
NM_000181.4(GUSB):c.1415C>A (p.Ser472Tyr) rs771707097
NM_000181.4(GUSB):c.1417T>C (p.Leu473=) rs1791110203
NM_000181.4(GUSB):c.141C>T (p.Phe47=) rs1437874724
NM_000181.4(GUSB):c.1421A>G (p.Asp474Gly) rs2484779430
NM_000181.4(GUSB):c.1423C>A (p.Pro475Thr) rs1791109749
NM_000181.4(GUSB):c.1425C>T (p.Pro475=) rs1791109537
NM_000181.4(GUSB):c.1430G>A (p.Arg477Gln) rs771017036
NM_000181.4(GUSB):c.1431G>A (p.Arg477=) rs748788618
NM_000181.4(GUSB):c.1431G>T (p.Arg477=) rs748788618
NM_000181.4(GUSB):c.1455T>C (p.Ser485=) rs2484778977
NM_000181.4(GUSB):c.1455dup (p.Asn486Ter) rs1791107315
NM_000181.4(GUSB):c.1457_1460del (p.Asn486fs) rs1562678869
NM_000181.4(GUSB):c.1468G>A (p.Asp490Asn) rs2484778789
NM_000181.4(GUSB):c.1469A>G (p.Asp490Gly) rs2115900875
NM_000181.4(GUSB):c.1476+10G>A rs758718116
NM_000181.4(GUSB):c.1476+13del rs2115900599
NM_000181.4(GUSB):c.1476+13dup rs2115900599
NM_000181.4(GUSB):c.1476+16C>T rs2484778528
NM_000181.4(GUSB):c.1476+18C>A rs946592201
NM_000181.4(GUSB):c.1476+20C>A rs757800621
NM_000181.4(GUSB):c.1476+20C>T rs757800621
NM_000181.4(GUSB):c.1476+3G>A rs886042522
NM_000181.4(GUSB):c.1476_1476+13del rs1271928727
NM_000181.4(GUSB):c.15G>A (p.Ser5=) rs1285511679
NM_000181.4(GUSB):c.1654-10T>G rs776105120
NM_000181.4(GUSB):c.1654-11T>C rs1790700977
NM_000181.4(GUSB):c.1654-12C>G rs1268354062
NM_000181.4(GUSB):c.1654-12C>T rs1268354062
NM_000181.4(GUSB):c.1654-13_1654-9del
NM_000181.4(GUSB):c.1654-14G>A rs761874655
NM_000181.4(GUSB):c.1654-1G>A rs2484749278
NM_000181.4(GUSB):c.1654-7A>G rs2484749311
NM_000181.4(GUSB):c.1654-9G>A rs1790700569
NM_000181.4(GUSB):c.1663C>T (p.Leu555=) rs775084641
NM_000181.4(GUSB):c.169C>G (p.Arg57Gly) rs772676579
NM_000181.4(GUSB):c.1703A>G (p.Gln568Arg) rs2484748996
NM_000181.4(GUSB):c.1704G>A (p.Gln568=) rs1287239412
NM_000181.4(GUSB):c.1714G>A (p.Gly572Ser) rs1473884638
NM_000181.4(GUSB):c.1729C>T (p.Arg577Cys) rs747104326
NM_000181.4(GUSB):c.1730G>T (p.Arg577Leu) rs121918183
NM_000181.4(GUSB):c.1747G>A (p.Gly583Arg) rs757015172
NM_000181.4(GUSB):c.1750_1762del (p.Glu584fs)
NM_000181.4(GUSB):c.1756dup (p.Ile586fs) rs2484748655
NM_000181.4(GUSB):c.1770C>T (p.Ala590=) rs200228580
NM_000181.4(GUSB):c.1782T>C (p.Thr594=) rs1459112993
NM_000181.4(GUSB):c.1782T>G (p.Thr594=) rs1459112993
NM_000181.4(GUSB):c.1783del (p.Glu595fs) rs2484748474
NM_000181.4(GUSB):c.1785A>G (p.Glu595=)
NM_000181.4(GUSB):c.1789+10A>C rs1386704925
NM_000181.4(GUSB):c.1789+17C>T
NM_000181.4(GUSB):c.1789+19C>T
NM_000181.4(GUSB):c.1790-11T>C rs756087154
NM_000181.4(GUSB):c.1790-11T>G rs756087154
NM_000181.4(GUSB):c.1790-18dup rs750022485
NM_000181.4(GUSB):c.1790-21_1790-20del rs2484734883
NM_000181.4(GUSB):c.1790-4G>T rs879010457
NM_000181.4(GUSB):c.1790-5del rs750022485
NM_000181.4(GUSB):c.1798dup (p.Arg600fs) rs1554303791
NM_000181.4(GUSB):c.17C>A (p.Ala6Glu) rs945192107
NM_000181.4(GUSB):c.1800_1801del (p.Arg600fs) rs2484734390
NM_000181.4(GUSB):c.1804C>T (p.Leu602=) rs1790456990
NM_000181.4(GUSB):c.1809G>A (p.Gly603=) rs1790456341
NM_000181.4(GUSB):c.1809dup (p.Asn604fs) rs2484734326
NM_000181.4(GUSB):c.1816A>G (p.Lys606Glu) rs1325465494
NM_000181.4(GUSB):c.1829C>T (p.Thr610Ile) rs2484734152
NM_000181.4(GUSB):c.1832G>A (p.Arg611Gln) rs1583879945
NM_000181.4(GUSB):c.1834del (p.Gln612fs) rs1085307069
NM_000181.4(GUSB):c.1857G>C (p.Ala619=) rs779147312
NM_000181.4(GUSB):c.185A>C (p.Gln62Pro) rs571736757
NM_000181.4(GUSB):c.185A>G (p.Gln62Arg) rs571736757
NM_000181.4(GUSB):c.1865T>A (p.Leu622Ter) rs2484733748
NM_000181.4(GUSB):c.1872_1875del (p.Glu624fs) rs935464108
NM_000181.4(GUSB):c.1872_1875dup (p.Tyr626fs) rs935464108
NM_000181.4(GUSB):c.1874_1875del (p.Arg625fs) rs935464108
NM_000181.4(GUSB):c.1874_1877dup (p.Tyr626Ter)
NM_000181.4(GUSB):c.1877A>G (p.Tyr626Cys) rs2484733592
NM_000181.4(GUSB):c.1880G>A (p.Trp627Ter) rs1236992554
NM_000181.4(GUSB):c.1883A>C (p.Lys628Thr) rs1790449347
NM_000181.4(GUSB):c.1886T>C (p.Ile629Thr) rs2484733488
NM_000181.4(GUSB):c.1896A>G (p.Glu632=) rs1249207867
NM_000181.4(GUSB):c.189G>C (p.Trp63Cys) rs1198438958
NM_000181.4(GUSB):c.18G>A (p.Ala6=) rs913766105
NM_000181.4(GUSB):c.18G>C (p.Ala6=) rs913766105
NM_000181.4(GUSB):c.1905T>C (p.Tyr635=) rs2484733253
NM_000181.4(GUSB):c.190del (p.Tyr64fs) rs2484857180
NM_000181.4(GUSB):c.1911C>T (p.His637=) rs1790445095
NM_000181.4(GUSB):c.1912T>C (p.Ser638Pro) rs1790444883
NM_000181.4(GUSB):c.1916_1918dup (p.Val639dup) rs770237165
NM_000181.4(GUSB):c.1926A>G (p.Ser642=) rs2484733147
NM_000181.4(GUSB):c.1927C>T (p.Gln643Ter) rs1790443878
NM_000181.4(GUSB):c.1946_1947inv (p.Leu649Pro)
NM_000181.4(GUSB):c.204G>A (p.Leu68=)
NM_000181.4(GUSB):c.207G>A (p.Trp69Ter)
NM_000181.4(GUSB):c.210+5G>A rs1439749452
NM_000181.4(GUSB):c.210+5G>C rs1439749452
NM_000181.4(GUSB):c.211-15C>T rs1562696779
NM_000181.4(GUSB):c.211-16G>A rs2484847372
NM_000181.4(GUSB):c.211-17G>C rs749802416
NM_000181.4(GUSB):c.211-18C>G rs774828816
NM_000181.4(GUSB):c.211-1G>A
NM_000181.4(GUSB):c.211-20C>T rs568097786
NM_000181.4(GUSB):c.211-7T>C rs1299733589
NM_000181.4(GUSB):c.222C>G (p.Thr74=) rs140016611
NM_000181.4(GUSB):c.229A>G (p.Met77Val) rs1583947665
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) rs2484846821
NM_000181.4(GUSB):c.240C>T (p.Pro80=) rs1203231859
NM_000181.4(GUSB):c.245G>A (p.Ser82Asn) rs1196229091
NM_000181.4(GUSB):c.24C>T (p.Ala8=) rs2484858968
NM_000181.4(GUSB):c.24del (p.Trp9fs) rs2484858985
NM_000181.4(GUSB):c.252T>C (p.Asn84=) rs2484846650
NM_000181.4(GUSB):c.286G>A (p.Val96Ile)
NM_000181.4(GUSB):c.289G>A (p.Gly97Ser)
NM_000181.4(GUSB):c.2T>G (p.Met1Arg) rs1583955795
NM_000181.4(GUSB):c.304G>A (p.Glu102Lys)
NM_000181.4(GUSB):c.306A>G (p.Glu102=) rs2116042007
NM_000181.4(GUSB):c.315G>T (p.Val105=)
NM_000181.4(GUSB):c.320del (p.Leu107fs) rs2484846029
NM_000181.4(GUSB):c.325G>T (p.Glu109Ter) rs2484845928
NM_000181.4(GUSB):c.333G>A (p.Trp111Ter)
NM_000181.4(GUSB):c.338A>G (p.Gln113Arg) rs1791915416
NM_000181.4(GUSB):c.342C>T (p.Asp114=) rs2116041185
NM_000181.4(GUSB):c.366G>A (p.Arg122=) rs1583946993
NM_000181.4(GUSB):c.366G>C (p.Arg122Ser) rs1583946993
NM_000181.4(GUSB):c.36C>T (p.Leu12=) rs1032355412
NM_000181.4(GUSB):c.373A>C (p.Ser125Arg) rs2116040590
NM_000181.4(GUSB):c.380A>G (p.His127Arg) rs765699404
NM_000181.4(GUSB):c.383C>T (p.Ser128Phe) rs762212333
NM_000181.4(GUSB):c.388G>A (p.Ala130Thr) rs2484845360
NM_000181.4(GUSB):c.38G>A (p.Gly13Glu) rs1237078772
NM_000181.4(GUSB):c.390C>T (p.Ala130=) rs2484845325
NM_000181.4(GUSB):c.393C>T (p.Ile131=) rs1452631377
NM_000181.4(GUSB):c.396+13A>G rs2484845078
NM_000181.4(GUSB):c.396+15G>C rs757135258
NM_000181.4(GUSB):c.396+17G>A rs1420400985
NM_000181.4(GUSB):c.396+1G>A rs747048051
NM_000181.4(GUSB):c.396+5G>T
NM_000181.4(GUSB):c.396+8C>T rs775565879
NM_000181.4(GUSB):c.397-10G>A rs774576359
NM_000181.4(GUSB):c.397-10G>C rs774576359
NM_000181.4(GUSB):c.397-15C>T rs2484842342
NM_000181.4(GUSB):c.397-19G>T rs759668020
NM_000181.4(GUSB):c.397-20dup rs765594686
NM_000181.4(GUSB):c.397-2A>G
NM_000181.4(GUSB):c.429G>A (p.Glu143=) rs375740757
NM_000181.4(GUSB):c.429G>T (p.Glu143Asp) rs375740757
NM_000181.4(GUSB):c.42G>T (p.Pro14=) rs1792076511
NM_000181.4(GUSB):c.430G>T (p.Gly144Trp) rs1562695306
NM_000181.4(GUSB):c.434del (p.Gly145fs) rs1791872095
NM_000181.4(GUSB):c.438C>T (p.Tyr146=)
NM_000181.4(GUSB):c.442C>T (p.Pro148Ser) rs121918177
NM_000181.4(GUSB):c.448G>A (p.Glu150Lys)
NM_000181.4(GUSB):c.450G>A (p.Glu150=)
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=) rs144397476
NM_000181.4(GUSB):c.45G>A (p.Leu15=) rs886062404
NM_000181.4(GUSB):c.462C>T (p.Ser154=) rs1791869458
NM_000181.4(GUSB):c.464_475del (p.Asn155_Val159delinsMet) rs2484841454
NM_000181.4(GUSB):c.465C>G (p.Asn155Lys) rs2484841523
NM_000181.4(GUSB):c.466C>T (p.Leu156=) rs1410086265
NM_000181.4(GUSB):c.486G>A (p.Leu162=) rs1791867561
NM_000181.4(GUSB):c.48G>A (p.Leu16=) rs2484858647
NM_000181.4(GUSB):c.507dup (p.Ile170fs) rs2484841000
NM_000181.4(GUSB):c.518A>G (p.Asn173Ser)
NM_000181.4(GUSB):c.527_530del (p.Leu176fs) rs776287966
NM_000181.4(GUSB):c.530C>T (p.Thr177Ile) rs587779400
NM_000181.4(GUSB):c.531C>A (p.Thr177=) rs1392513223
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=) rs2484840539
NM_000181.4(GUSB):c.555C>T (p.Thr185=) rs2484840539
NM_000181.4(GUSB):c.556A>C (p.Ile186Leu) rs1287279757
NM_000181.4(GUSB):c.560_581+13del rs2484840248
NM_000181.4(GUSB):c.581+10A>G rs1233559582
NM_000181.4(GUSB):c.581+12C>G rs1297851058
NM_000181.4(GUSB):c.581+17C>T rs2484840220
NM_000181.4(GUSB):c.581+1G>A rs773510214
NM_000181.4(GUSB):c.581+20C>T rs2484840192
NM_000181.4(GUSB):c.581+8C>G rs527730129
NM_000181.4(GUSB):c.582-12C>G rs772006853
NM_000181.4(GUSB):c.582-12C>T rs772006853
NM_000181.4(GUSB):c.582-20C>G rs1791843574
NM_000181.4(GUSB):c.582-3T>G rs2484838806
NM_000181.4(GUSB):c.582-6T>C
NM_000181.4(GUSB):c.582-7A>C rs745342555
NM_000181.4(GUSB):c.582-9C>T rs2484838870
NM_000181.4(GUSB):c.58_70del (p.Ala20fs) rs1377855703
NM_000181.4(GUSB):c.604C>T (p.Gln202Ter) rs2484838592
NM_000181.4(GUSB):c.614A>G (p.Tyr205Cys) rs2116029247
NM_000181.4(GUSB):c.615T>C (p.Tyr205=) rs2484838457
NM_000181.4(GUSB):c.639A>G (p.Gly213=) rs2484838258
NM_000181.4(GUSB):c.643C>T (p.Gln215Ter) rs2484838210
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=) rs760324067
NM_000181.4(GUSB):c.666G>T (p.Thr222=) rs773822519
NM_000181.4(GUSB):c.66G>A (p.Gly22=) rs976188004
NM_000181.4(GUSB):c.66G>T (p.Gly22=) rs976188004
NM_000181.4(GUSB):c.684C>T (p.Ile228=) rs375590538
NM_000181.4(GUSB):c.687dup (p.Asp230Ter)
NM_000181.4(GUSB):c.694A>G (p.Thr232Ala) rs1332406445
NM_000181.4(GUSB):c.695C>T (p.Thr232Ile) rs138618819
NM_000181.4(GUSB):c.699C>T (p.Val233=)
NM_000181.4(GUSB):c.6C>T (p.Ala2=) rs758903707
NM_000181.4(GUSB):c.724+17G>C rs2116026712
NM_000181.4(GUSB):c.724+1G>T rs2116026958
NM_000181.4(GUSB):c.724+23TC[3] rs3830444
NM_000181.4(GUSB):c.725-12T>C rs1791566358
NM_000181.4(GUSB):c.725-14C>A rs758405750
NM_000181.4(GUSB):c.725-18C>A rs754699640
NM_000181.4(GUSB):c.725-18C>G rs754699640
NM_000181.4(GUSB):c.725-18C>T rs754699640
NM_000181.4(GUSB):c.725-18CT[2] rs1173385478
NM_000181.4(GUSB):c.725-7C>G rs2484815573
NM_000181.4(GUSB):c.725-8dup rs768444459
NM_000181.4(GUSB):c.729G>A (p.Leu243=) rs2484815457
NM_000181.4(GUSB):c.738C>T (p.Tyr246=) rs764866250
NM_000181.4(GUSB):c.739C>T (p.Gln247Ter) rs1177306016
NM_000181.4(GUSB):c.744C>T (p.Ile248=) rs2484815310
NM_000181.4(GUSB):c.74dup (p.Gly26fs) rs2484858423
NM_000181.4(GUSB):c.762C>T (p.Asn254=) rs1297856448
NM_000181.4(GUSB):c.765G>T (p.Leu255=) rs2115977392
NM_000181.4(GUSB):c.768C>T (p.Phe256=) rs774882132
NM_000181.4(GUSB):c.76_79dup (p.Met27fs) rs2484858344
NM_000181.4(GUSB):c.781C>G (p.Arg261Gly) rs768075787
NM_000181.4(GUSB):c.78G>T (p.Gly26=) rs1342758094
NM_000181.4(GUSB):c.792T>C (p.Asp264=) rs1791558497
NM_000181.4(GUSB):c.812C>A (p.Ala271Glu) rs369465888
NM_000181.4(GUSB):c.812C>T (p.Ala271Val) rs369465888
NM_000181.4(GUSB):c.813G>T (p.Ala271=) rs150999162
NM_000181.4(GUSB):c.867_871del (p.Trp289_Tyr291delinsTer) rs2484813628
NM_000181.4(GUSB):c.873C>T (p.Tyr291=) rs2484813602
NM_000181.4(GUSB):c.875T>C (p.Leu292Pro) rs2484813579
NM_000181.4(GUSB):c.87C>T (p.Tyr29=) rs2484858290
NM_000181.4(GUSB):c.882C>T (p.His294=) rs766837276
NM_000181.4(GUSB):c.894C>G (p.Ala298=)
NM_000181.4(GUSB):c.896A>G (p.Tyr299Cys) rs1271320539
NM_000181.4(GUSB):c.90C>G (p.Pro30=) rs745503914
NM_000181.4(GUSB):c.90C>T (p.Pro30=) rs745503914
NM_000181.4(GUSB):c.912+15G>C rs771840511
NM_000181.4(GUSB):c.913-16G>A rs2115962921
NM_000181.4(GUSB):c.913-18G>C rs2484807107
NM_000181.4(GUSB):c.913-5C>T
NM_000181.4(GUSB):c.916C>T (p.Gln306Ter) rs1156563889
NM_000181.4(GUSB):c.91C>T (p.Gln31Ter) rs2484858214
NM_000181.4(GUSB):c.927A>C (p.Ala309=) rs2484806825
NM_000181.4(GUSB):c.932dup (p.Ser312fs) rs2484806814
NM_000181.4(GUSB):c.93G>A (p.Gln31=) rs2484858179
NM_000181.4(GUSB):c.942G>A (p.Gly314=) rs1583924691
NM_000181.4(GUSB):c.945T>C (p.Pro315=) rs1791476210
NM_000181.4(GUSB):c.953A>G (p.Asp318Gly) rs2484806524
NM_000181.4(GUSB):c.963A>T (p.Thr321=) rs142706520
NM_000181.4(GUSB):c.966C>A (p.Leu322=) rs764537946
NM_000181.4(GUSB):c.980G>A (p.Arg327His) rs1583924426
NM_000181.4(GUSB):c.980G>T (p.Arg327Leu) rs1583924426
NM_000181.4(GUSB):c.984T>G (p.Thr328=)
NM_000181.4(GUSB):c.99C>T (p.Ser33=) rs1167563693

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