ClinVar Miner

List of variants in gene GLB1 studied for Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 826
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000404.4(GLB1):c.1561T>C (p.Cys521Arg) rs4302331 0.93112
NM_000404.4(GLB1):c.1233+8T>C rs13093698 0.21250
NM_000404.4(GLB1):c.458-11T>C rs34204221 0.10591
NM_000404.4(GLB1):c.1561= (p.Cys521=) rs4302331 0.06888
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339 0.05158
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) rs35289681 0.01618
NM_000404.4(GLB1):c.1824G>C (p.Leu608=) rs77226678 0.01441
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970 0.00952
NM_000404.4(GLB1):c.793-19C>T rs114082733 0.00619
NM_000404.4(GLB1):c.756C>T (p.Phe252=) rs142326197 0.00547
NM_000404.4(GLB1):c.1577G>A (p.Gly526Asp) rs147332381 0.00464
NM_000404.4(GLB1):c.1032T>C (p.Thr344=) rs199927127 0.00145
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser) rs180869784 0.00116
NM_000404.4(GLB1):c.623G>A (p.Arg208His) rs111840209 0.00106
NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys) rs371397760 0.00095
NM_000404.4(GLB1):c.1426C>T (p.Leu476=) rs113534264 0.00083
NM_000404.4(GLB1):c.1833G>A (p.Ser611=) rs201755284 0.00066
NM_000404.4(GLB1):c.397-5A>G rs375046684 0.00034
NM_000404.4(GLB1):c.1347+10G>A rs199538100 0.00028
NM_000404.4(GLB1):c.1530G>A (p.Thr510=) rs191203702 0.00025
NM_000404.4(GLB1):c.234C>T (p.Asn78=) rs368796666 0.00023
NM_000404.4(GLB1):c.1641G>A (p.Thr547=) rs370546368 0.00021
NM_000404.4(GLB1):c.1234-11T>A rs145674318 0.00020
NM_000404.4(GLB1):c.782A>G (p.Lys261Arg) rs200050465 0.00018
NM_000404.4(GLB1):c.1095C>T (p.Ile365=) rs200762972 0.00015
NM_000404.4(GLB1):c.1479+11C>T rs369789589 0.00015
NM_000404.4(GLB1):c.1511A>G (p.Asn504Ser) rs372538696 0.00014
NM_000404.4(GLB1):c.450C>T (p.Ser150=) rs140353187 0.00014
NM_000404.4(GLB1):c.1715A>G (p.Gln572Arg) rs183126947 0.00013
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys) rs72555366 0.00012
NM_000404.4(GLB1):c.1521G>A (p.Thr507=) rs374924493 0.00011
NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp) rs201807974 0.00011
NM_000404.4(GLB1):c.956-6T>C rs779848232 0.00011
NM_000404.4(GLB1):c.1480-8C>G rs753129246 0.00010
NM_000404.4(GLB1):c.1529C>T (p.Thr510Met) rs1803198 0.00010
NM_000404.4(GLB1):c.1192A>G (p.Ile398Val) rs199692082 0.00009
NM_000404.4(GLB1):c.1234-17A>T rs185922201 0.00009
NM_000404.4(GLB1):c.1257G>A (p.Arg419=) rs754660496 0.00009
NM_000404.4(GLB1):c.552+18C>T rs779369835 0.00009
NM_000404.4(GLB1):c.734-10C>A rs181971321 0.00009
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) rs564428355 0.00008
NM_000404.4(GLB1):c.1601A>G (p.His534Arg) rs770982909 0.00008
NM_000404.4(GLB1):c.402A>T (p.Gly134=) rs371195938 0.00007
NM_000404.4(GLB1):c.875C>G (p.Ser292Cys) rs368139032 0.00007
NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln) rs780634117 0.00006
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) rs371582179 0.00006
NM_000404.4(GLB1):c.1735-10C>G rs766907320 0.00006
NM_000404.4(GLB1):c.1911G>A (p.Thr637=) rs549550701 0.00006
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg) rs376710410 0.00006
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) rs72555360 0.00006
NM_000404.4(GLB1):c.616C>T (p.Arg206Cys) rs766214522 0.00006
NM_000404.4(GLB1):c.915-17C>A rs371566143 0.00006
NM_000404.4(GLB1):c.1069-4A>G rs781267265 0.00005
NM_000404.4(GLB1):c.107A>G (p.Tyr36Cys) rs748345527 0.00005
NM_000404.4(GLB1):c.1815G>A (p.Gln605=) rs776773620 0.00005
NM_000404.4(GLB1):c.1830C>G (p.Thr610=) rs189054965 0.00005
NM_000404.4(GLB1):c.602G>A (p.Arg201His) rs189115557 0.00005
NM_000404.4(GLB1):c.1052G>A (p.Arg351Gln) rs761601513 0.00004
NM_000404.4(GLB1):c.1234-8C>G rs376560587 0.00004
NM_000404.4(GLB1):c.1286C>T (p.Pro429Leu) rs201148460 0.00004
NM_000404.4(GLB1):c.1348-7C>T rs774732235 0.00004
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392 0.00004
NM_000404.4(GLB1):c.1910C>T (p.Thr637Met) rs369133124 0.00004
NM_000404.4(GLB1):c.1998G>A (p.Pro666=) rs746939617 0.00004
NM_000404.4(GLB1):c.235G>A (p.Ala79Thr) rs553660803 0.00004
NM_000404.4(GLB1):c.327G>A (p.Arg109=) rs751602590 0.00004
NM_000404.4(GLB1):c.876C>G (p.Ser292=) rs1699010204 0.00004
NM_000404.4(GLB1):c.1009C>T (p.Leu337=) rs376034559 0.00003
NM_000404.4(GLB1):c.1092T>C (p.Pro364=) rs750932808 0.00003
NM_000404.4(GLB1):c.1348-16G>A rs777856183 0.00003
NM_000404.4(GLB1):c.1470C>T (p.Asn490=) rs748007307 0.00003
NM_000404.4(GLB1):c.1480-5T>C rs929129635 0.00003
NM_000404.4(GLB1):c.1767C>T (p.Gly589=) rs373181758 0.00003
NM_000404.4(GLB1):c.1769G>A (p.Arg590His) rs398123351 0.00003
NM_000404.4(GLB1):c.1851C>T (p.Thr617=) rs1257941311 0.00003
NM_000404.4(GLB1):c.1915G>A (p.Val639Met) rs1222326938 0.00003
NM_000404.4(GLB1):c.1959C>T (p.Pro653=) rs1374582666 0.00003
NM_000404.4(GLB1):c.2016A>G (p.Ser672=) rs756403702 0.00003
NM_000404.4(GLB1):c.202C>T (p.Arg68Trp) rs72555370 0.00003
NM_000404.4(GLB1):c.335A>C (p.His112Pro) rs753965226 0.00003
NM_000404.4(GLB1):c.1068+7G>A rs776131111 0.00002
NM_000404.4(GLB1):c.1077A>G (p.Lys359=) rs751886625 0.00002
NM_000404.4(GLB1):c.1101A>G (p.Pro367=) rs763663574 0.00002
NM_000404.4(GLB1):c.1143+3A>C rs759517360 0.00002
NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn) rs780724173 0.00002
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val) rs757926581 0.00002
NM_000404.4(GLB1):c.1442G>A (p.Gly481Glu) rs747812191 0.00002
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) rs72555391 0.00002
NM_000404.4(GLB1):c.146G>A (p.Arg49His) rs780523881 0.00002
NM_000404.4(GLB1):c.1580G>A (p.Trp527Ter) rs769781778 0.00002
NM_000404.4(GLB1):c.1647G>A (p.Pro549=) rs772573490 0.00002
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) rs756878418 0.00002
NM_000404.4(GLB1):c.2007C>T (p.Asn669=) rs750202423 0.00002
NM_000404.4(GLB1):c.2030T>G (p.Val677Gly) rs767685019 0.00002
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln) rs572237881 0.00002
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter) rs748830051 0.00002
NM_000404.4(GLB1):c.327G>T (p.Arg109=) rs751602590 0.00002
NM_000404.4(GLB1):c.451G>A (p.Asp151Asn) rs375582374 0.00002
NM_000404.4(GLB1):c.496C>T (p.Leu166=) rs747305905 0.00002
NM_000404.4(GLB1):c.553-17T>C rs1194605833 0.00002
NM_000404.4(GLB1):c.557A>C (p.Glu186Ala) rs779023917 0.00002
NM_000404.4(GLB1):c.716C>T (p.Thr239Met) rs746766232 0.00002
NM_000404.4(GLB1):c.780C>G (p.Pro260=) rs763307375 0.00002
NM_000404.4(GLB1):c.793-9T>A rs765504729 0.00002
NM_000404.4(GLB1):c.841C>T (p.His281Tyr) rs745386663 0.00002
NM_000404.4(GLB1):c.858C>T (p.Thr286=) rs770638519 0.00002
NM_000404.4(GLB1):c.859G>A (p.Glu287Lys) rs748853764 0.00002
NM_000404.4(GLB1):c.993C>T (p.Tyr331=) rs752884772 0.00002
NM_000404.4(GLB1):c.994G>A (p.Asp332Asn) rs781658798 0.00002
NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn) rs749980306 0.00001
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter) rs72555372 0.00001
NM_000404.4(GLB1):c.1110A>G (p.Pro370=) rs760325133 0.00001
NM_000404.4(GLB1):c.1122T>C (p.Tyr374=) rs1407133452 0.00001
NM_000404.4(GLB1):c.1174C>T (p.Leu392=) rs766318695 0.00001
NM_000404.4(GLB1):c.1176G>A (p.Leu392=) rs776608131 0.00001
NM_000404.4(GLB1):c.1202T>C (p.Leu401Pro) rs1301956348 0.00001
NM_000404.4(GLB1):c.1202T>G (p.Leu401Arg) rs1301956348 0.00001
NM_000404.4(GLB1):c.1234-10T>G rs774894435 0.00001
NM_000404.4(GLB1):c.1241G>A (p.Gly414Glu) rs1399147380 0.00001
NM_000404.4(GLB1):c.1251G>A (p.Leu417=) rs770133205 0.00001
NM_000404.4(GLB1):c.1255C>T (p.Arg419Trp) rs747709527 0.00001
NM_000404.4(GLB1):c.1258A>C (p.Thr420Pro) rs200181401 0.00001
NM_000404.4(GLB1):c.1261A>G (p.Thr421Ala) rs779877504 0.00001
NM_000404.4(GLB1):c.1276T>G (p.Cys426Gly) rs765230559 0.00001
NM_000404.4(GLB1):c.1317C>G (p.Val439=) rs1449783767 0.00001
NM_000404.4(GLB1):c.1320C>T (p.His440=) rs200390675 0.00001
NM_000404.4(GLB1):c.1326A>G (p.Arg442=) rs953970172 0.00001
NM_000404.4(GLB1):c.1347+9C>T rs753804013 0.00001
NM_000404.4(GLB1):c.1356G>A (p.Gln452=) rs1360438550 0.00001
NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter) rs72555359 0.00001
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln) rs28934886 0.00001
NM_000404.4(GLB1):c.141A>G (p.Pro47=) rs1417933450 0.00001
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys) rs72555365 0.00001
NM_000404.4(GLB1):c.1454A>G (p.Tyr485Cys) rs1553606400 0.00001
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) rs72555358 0.00001
NM_000404.4(GLB1):c.1471G>A (p.Asp491Asn) rs780232995 0.00001
NM_000404.4(GLB1):c.1479+1G>A rs1022476871 0.00001
NM_000404.4(GLB1):c.1480-2A>G rs587776526 0.00001
NM_000404.4(GLB1):c.1480-4G>T rs377063117 0.00001
NM_000404.4(GLB1):c.1480-8del rs757882979 0.00001
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) rs72555368 0.00001
NM_000404.4(GLB1):c.149A>G (p.Tyr50Cys) rs1207569870 0.00001
NM_000404.4(GLB1):c.1518C>T (p.Leu506=) rs748176346 0.00001
NM_000404.4(GLB1):c.1536T>C (p.Phe512=) rs763651916 0.00001
NM_000404.4(GLB1):c.1572G>C (p.Leu524=) rs765957868 0.00001
NM_000404.4(GLB1):c.1593C>T (p.Asp531=) rs567562440 0.00001
NM_000404.4(GLB1):c.161G>A (p.Ser54Asn) rs143423935 0.00001
NM_000404.4(GLB1):c.1638C>T (p.Tyr546=) rs752092360 0.00001
NM_000404.4(GLB1):c.1643T>A (p.Leu548His) rs1335107953 0.00001
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu) rs776327443 0.00001
NM_000404.4(GLB1):c.1699C>T (p.Gln567Ter) rs1295295164 0.00001
NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter) rs778375259 0.00001
NM_000404.4(GLB1):c.1753G>A (p.Gly585Ser) rs1291361971 0.00001
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) rs794727165 0.00001
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys) rs72555371 0.00001
NM_000404.4(GLB1):c.1852G>A (p.Val618Met) rs1375909576 0.00001
NM_000404.4(GLB1):c.1861C>T (p.Leu621=) rs748948967 0.00001
NM_000404.4(GLB1):c.1873C>T (p.Pro625Ser) rs755581184 0.00001
NM_000404.4(GLB1):c.1896A>G (p.Glu632=) rs372915557 0.00001
NM_000404.4(GLB1):c.1914C>T (p.Phe638=) rs545982076 0.00001
NM_000404.4(GLB1):c.1938A>G (p.Ser646=) rs201051026 0.00001
NM_000404.4(GLB1):c.1950C>T (p.Tyr650=) rs569787678 0.00001
NM_000404.4(GLB1):c.1983C>T (p.Leu661=) rs747589996 0.00001
NM_000404.4(GLB1):c.1992A>G (p.Pro664=) rs780675073 0.00001
NM_000404.4(GLB1):c.1995C>T (p.Pro665=) rs1300459240 0.00001
NM_000404.4(GLB1):c.2002A>T (p.Lys668Ter) rs758168173 0.00001
NM_000404.4(GLB1):c.2009A>G (p.Lys670Arg) rs764348340 0.00001
NM_000404.4(GLB1):c.2031A>G (p.Val677=) rs909928512 0.00001
NM_000404.4(GLB1):c.245+1G>A rs778423653 0.00001
NM_000404.4(GLB1):c.245C>T (p.Thr82Met) rs72555393 0.00001
NM_000404.4(GLB1):c.295T>A (p.Ser99Thr) rs968429427 0.00001
NM_000404.4(GLB1):c.312G>A (p.Val104=) rs113901133 0.00001
NM_000404.4(GLB1):c.336T>C (p.His112=) rs201019449 0.00001
NM_000404.4(GLB1):c.366C>T (p.Pro122=) rs769972414 0.00001
NM_000404.4(GLB1):c.367G>A (p.Gly123Arg) rs28934274 0.00001
NM_000404.4(GLB1):c.380G>T (p.Cys127Phe) rs1699791081 0.00001
NM_000404.4(GLB1):c.397-1G>A rs398123353 0.00001
NM_000404.4(GLB1):c.426A>G (p.Lys142=) rs768435736 0.00001
NM_000404.4(GLB1):c.434T>C (p.Ile145Thr) rs1416369501 0.00001
NM_000404.4(GLB1):c.443G>A (p.Arg148His) rs745864233 0.00001
NM_000404.4(GLB1):c.446C>T (p.Ser149Phe) rs778700089 0.00001
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly) rs398123355 0.00001
NM_000404.4(GLB1):c.517C>G (p.Leu173Val) rs1303774639 0.00001
NM_000404.4(GLB1):c.524A>G (p.Gln175Arg) rs367692210 0.00001
NM_000404.4(GLB1):c.534G>A (p.Gly178=) rs928862880 0.00001
NM_000404.4(GLB1):c.561T>C (p.Asn187=) rs1344460111 0.00001
NM_000404.4(GLB1):c.569G>A (p.Gly190Asp) rs756575833 0.00001
NM_000404.4(GLB1):c.636G>A (p.Gly212=) rs746141370 0.00001
NM_000404.4(GLB1):c.669A>G (p.Ala223=) rs909129937 0.00001
NM_000404.4(GLB1):c.681C>T (p.Phe227=) rs780608544 0.00001
NM_000404.4(GLB1):c.693G>T (p.Gly231=) rs754493105 0.00001
NM_000404.4(GLB1):c.699del (p.Gln234fs) rs1452318343 0.00001
NM_000404.4(GLB1):c.703G>A (p.Gly235Ser) rs766019573 0.00001
NM_000404.4(GLB1):c.734-6T>A rs1350583798 0.00001
NM_000404.4(GLB1):c.777G>A (p.Glu259=) rs766528936 0.00001
NM_000404.4(GLB1):c.785G>C (p.Gly262Ala) rs377174858 0.00001
NM_000404.4(GLB1):c.792+19G>A rs745561290 0.00001
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) rs376663785 0.00001
NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys) rs371546950 0.00001
NM_000404.4(GLB1):c.836A>G (p.Gln279Arg) rs1185364016 0.00001
NM_000404.4(GLB1):c.837A>G (p.Gln279=) rs1461790939 0.00001
NM_000404.4(GLB1):c.845C>T (p.Ser282Phe) rs1261599031 0.00001
NM_000404.4(GLB1):c.849A>C (p.Thr283=) rs1238694687 0.00001
NM_000404.4(GLB1):c.850A>G (p.Ile284Val) rs746547573 0.00001
NM_000404.4(GLB1):c.884A>G (p.Asp295Gly) rs76016860 0.00001
NM_000404.4(GLB1):c.902C>T (p.Ala301Val) rs750531880 0.00001
NM_000404.4(GLB1):c.915-10T>C rs770317304 0.00001
NM_000404.4(GLB1):c.931G>A (p.Gly311Arg) rs368568171 0.00001
NM_000404.4(GLB1):c.944C>A (p.Ala315Asp) rs1284882385 0.00001
NM_000404.4(GLB1):c.948T>C (p.Tyr316=) rs754967848 0.00001
NM_000404.4(GLB1):c.972T>C (p.Tyr324=) rs1342444418 0.00001
NC_000003.11:g.(?_33055538)_(33055812_?)del
NC_000003.11:g.(?_33099561)_(33099781_?)del
NC_000003.11:g.(?_33106935)_(33110482_?)del
NC_000003.11:g.(?_33106935)_(33114225_?)del
NC_000003.12:g.(?_33097001)_(33097095_?)del
NM_000404.4(GLB1):c.1008A>G (p.Pro336=) rs2125514081
NM_000404.4(GLB1):c.1009C>G (p.Leu337Val) rs376034559
NM_000404.4(GLB1):c.1010T>C (p.Leu337Pro) rs752177002
NM_000404.4(GLB1):c.1011G>C (p.Leu337=)
NM_000404.4(GLB1):c.1017G>A (p.Glu339=) rs2125514070
NM_000404.4(GLB1):c.1018G>A (p.Ala340Thr)
NM_000404.4(GLB1):c.1020T>C (p.Ala340=) rs2125514062
NM_000404.4(GLB1):c.1026C>A (p.Asp342Glu) rs2125514060
NM_000404.4(GLB1):c.1030A>G (p.Thr344Ala)
NM_000404.4(GLB1):c.1038G>A (p.Lys346=)
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn) rs749980306
NM_000404.4(GLB1):c.1040A>G (p.Tyr347Cys) rs2125514041
NM_000404.4(GLB1):c.1047T>A (p.Ala349=)
NM_000404.4(GLB1):c.1056C>T (p.Asn352=)
NM_000404.4(GLB1):c.105C>T (p.Asp35=) rs2125553920
NM_000404.4(GLB1):c.1060A>G (p.Ile354Val)
NM_000404.4(GLB1):c.1062C>T (p.Ile354=) rs1698730626
NM_000404.4(GLB1):c.1068+14A>G
NM_000404.4(GLB1):c.1068+18G>A
NM_000404.4(GLB1):c.1068+18G>C
NM_000404.4(GLB1):c.1068+18G>T
NM_000404.4(GLB1):c.1068+20T>C rs2125513973
NM_000404.4(GLB1):c.1069-17T>G
NM_000404.4(GLB1):c.1069-19T>C
NM_000404.4(GLB1):c.1069-20T>C
NM_000404.4(GLB1):c.1069-8G>A
NM_000404.4(GLB1):c.1069-8G>T rs570577258
NM_000404.4(GLB1):c.1071T>G (p.Phe357Leu) rs727503953
NM_000404.4(GLB1):c.1074A>G (p.Glu358=) rs2125479142
NM_000404.4(GLB1):c.1077del (p.Val360fs) rs727503952
NM_000404.4(GLB1):c.1083A>G (p.Pro361=)
NM_000404.4(GLB1):c.1084G>A (p.Glu362Lys)
NM_000404.4(GLB1):c.1086A>G (p.Glu362=) rs2125479069
NM_000404.4(GLB1):c.1088G>A (p.Gly363Asp) rs189503132
NM_000404.4(GLB1):c.1095C>G (p.Ile365Met)
NM_000404.4(GLB1):c.1110A>C (p.Pro370=)
NM_000404.4(GLB1):c.1113G>A (p.Lys371=)
NM_000404.4(GLB1):c.1119A>T (p.Ala373=)
NM_000404.4(GLB1):c.1120T>C (p.Tyr374His)
NM_000404.4(GLB1):c.1121A>T (p.Tyr374Phe)
NM_000404.4(GLB1):c.113G>A (p.Arg38Gln)
NM_000404.4(GLB1):c.1142del (p.Lys381fs) rs2125478934
NM_000404.4(GLB1):c.1143+11A>G
NM_000404.4(GLB1):c.1143+14del rs376544604
NM_000404.4(GLB1):c.1143+14dup rs376544604
NM_000404.4(GLB1):c.1143+15del
NM_000404.4(GLB1):c.1143+16A>T
NM_000404.4(GLB1):c.1143+20_1143+21del
NM_000404.4(GLB1):c.1144-12G>A
NM_000404.4(GLB1):c.1144-18G>C
NM_000404.4(GLB1):c.1144-2A>G rs1553607014
NM_000404.4(GLB1):c.1144-4T>C
NM_000404.4(GLB1):c.1144-8C>G rs1575417836
NM_000404.4(GLB1):c.1146A>G (p.Leu382=) rs893134596
NM_000404.4(GLB1):c.1147A>T (p.Lys383Ter)
NM_000404.4(GLB1):c.1147_1148del (p.Lys383fs)
NM_000404.4(GLB1):c.114G>A (p.Arg38=)
NM_000404.4(GLB1):c.1169A>G (p.Asp390Gly)
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs) rs398123348
NM_000404.4(GLB1):c.1176G>C (p.Leu392=)
NM_000404.4(GLB1):c.1176G>T (p.Leu392=)
NM_000404.4(GLB1):c.1184C>T (p.Ser395Phe)
NM_000404.4(GLB1):c.1188_1189delinsCT (p.Pro397Ser)
NM_000404.4(GLB1):c.1191del (p.Ile398fs) rs1559385898
NM_000404.4(GLB1):c.1198A>C (p.Ser400Arg)
NM_000404.4(GLB1):c.119C>T (p.Ser40Phe)
NM_000404.4(GLB1):c.1201C>A (p.Leu401Ile) rs1402467081
NM_000404.4(GLB1):c.1209C>G (p.Pro403=) rs528690108
NM_000404.4(GLB1):c.1215A>C (p.Thr405=) rs1159059066
NM_000404.4(GLB1):c.1215A>G (p.Thr405=) rs1159059066
NM_000404.4(GLB1):c.1223A>G (p.Gln408Arg) rs72555369
NM_000404.4(GLB1):c.1224G>A (p.Gln408=)
NM_000404.4(GLB1):c.1225del (p.Gln408_Val409insTer)
NM_000404.4(GLB1):c.1228A>C (p.Lys410Gln)
NM_000404.4(GLB1):c.1231C>T (p.Gln411Ter)
NM_000404.4(GLB1):c.1232A>C (p.Gln411Pro)
NM_000404.4(GLB1):c.1233+10del
NM_000404.4(GLB1):c.1233+12A>G
NM_000404.4(GLB1):c.1233+13A>C
NM_000404.4(GLB1):c.1233+15G>A
NM_000404.4(GLB1):c.1233+15del
NM_000404.4(GLB1):c.1233+19T>C
NM_000404.4(GLB1):c.1233+1G>A rs1553606984
NM_000404.4(GLB1):c.1234-13C>A
NM_000404.4(GLB1):c.1234-13C>G
NM_000404.4(GLB1):c.1234-19T>A
NM_000404.4(GLB1):c.1234-1G>T
NM_000404.4(GLB1):c.1234-20T>G
NM_000404.4(GLB1):c.1234-3C>A
NM_000404.4(GLB1):c.1234-8C>T
NM_000404.4(GLB1):c.123C>T (p.Phe41=) rs1559411842
NM_000404.4(GLB1):c.1254C>T (p.Tyr418=)
NM_000404.4(GLB1):c.1256G>C (p.Arg419Pro)
NM_000404.4(GLB1):c.1258A>G (p.Thr420Ala) rs200181401
NM_000404.4(GLB1):c.1263A>C (p.Thr421=)
NM_000404.4(GLB1):c.1263A>G (p.Thr421=) rs2125470039
NM_000404.4(GLB1):c.126C>A (p.Leu42=)
NM_000404.4(GLB1):c.126C>G (p.Leu42=) rs1226161672
NM_000404.4(GLB1):c.126C>T (p.Leu42=)
NM_000404.4(GLB1):c.1273G>C (p.Asp425His)
NM_000404.4(GLB1):c.1279A>G (p.Ser427Gly)
NM_000404.4(GLB1):c.1279_1298del (p.Ser427fs)
NM_000404.4(GLB1):c.1293T>C (p.Pro431=) rs535594294
NM_000404.4(GLB1):c.1298_1299del (p.Ser433fs) rs1697335361
NM_000404.4(GLB1):c.1306C>G (p.Leu436Val) rs34421970
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser) rs202237232
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile) rs202237232
NM_000404.4(GLB1):c.1310del (p.Asn437fs) rs2125469935
NM_000404.4(GLB1):c.1311T>C (p.Asn437=)
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu) rs72555367
NM_000404.4(GLB1):c.1314A>C (p.Gly438=)
NM_000404.4(GLB1):c.1314A>G (p.Gly438=)
NM_000404.4(GLB1):c.1317C>T (p.Val439=)
NM_000404.4(GLB1):c.1324C>T (p.Arg442Ter) rs2125469895
NM_000404.4(GLB1):c.1329A>T (p.Ala443=)
NM_000404.4(GLB1):c.132T>C (p.Asp44=) rs2125553864
NM_000404.4(GLB1):c.1333G>A (p.Val445Ile)
NM_000404.4(GLB1):c.1336dup (p.Ala446fs) rs2125469871
NM_000404.4(GLB1):c.1338T>C (p.Ala446=)
NM_000404.4(GLB1):c.1340_1341dup (p.Asp448fs)
NM_000404.4(GLB1):c.1347+13T>G
NM_000404.4(GLB1):c.1347+14C>T
NM_000404.4(GLB1):c.1347+18A>C
NM_000404.4(GLB1):c.1347+19C>T
NM_000404.4(GLB1):c.1347+1G>T
NM_000404.4(GLB1):c.1347+20T>C
NM_000404.4(GLB1):c.1347+7A>G
NM_000404.4(GLB1):c.1347+9C>A
NM_000404.4(GLB1):c.1348-16del
NM_000404.4(GLB1):c.1348-3C>G rs1697255114
NM_000404.4(GLB1):c.1348-5dup
NM_000404.4(GLB1):c.1348-7C>G
NM_000404.4(GLB1):c.1350C>T (p.Ile450=)
NM_000404.4(GLB1):c.1351C>T (p.Pro451Ser) rs267599772
NM_000404.4(GLB1):c.1360G>A (p.Val454Ile) rs1398424263
NM_000404.4(GLB1):c.1368G>A (p.Glu456=) rs1163359484
NM_000404.4(GLB1):c.1370_1372dup (p.Arg457dup) rs2125467100
NM_000404.4(GLB1):c.1375_1377del (p.Asn459del)
NM_000404.4(GLB1):c.1377T>C (p.Asn459=) rs557275388
NM_000404.4(GLB1):c.137_138delinsCC (p.Gln46Pro)
NM_000404.4(GLB1):c.1380G>A (p.Val460=)
NM_000404.4(GLB1):c.1384A>G (p.Thr462Ala)
NM_000404.4(GLB1):c.1387_1388del (p.Leu463fs)
NM_000404.4(GLB1):c.1388T>C (p.Leu463Pro) rs2125467060
NM_000404.4(GLB1):c.1389G>T (p.Leu463=)
NM_000404.4(GLB1):c.138G>A (p.Gln46=) rs2125553849
NM_000404.4(GLB1):c.1398_1399del (p.Gly467fs)
NM_000404.4(GLB1):c.1416T>A (p.Thr472=)
NM_000404.4(GLB1):c.1417del (p.Leu473fs)
NM_000404.4(GLB1):c.1423C>T (p.Leu475Phe)
NM_000404.4(GLB1):c.1426C>G (p.Leu476Val) rs113534264
NM_000404.4(GLB1):c.1437C>A (p.Asn479Lys)
NM_000404.4(GLB1):c.1441G>T (p.Gly481Ter)
NM_000404.4(GLB1):c.1449G>T (p.Val483=) rs2125466973
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys) rs968221254
NM_000404.4(GLB1):c.1455T>C (p.Tyr485=)
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs) rs398123349
NM_000404.4(GLB1):c.1467C>A (p.Ile489=)
NM_000404.4(GLB1):c.1468_1470del (p.Asn490del) rs1215113920
NM_000404.4(GLB1):c.1479+13A>G
NM_000404.4(GLB1):c.1479+17T>C
NM_000404.4(GLB1):c.1479+19T>C
NM_000404.4(GLB1):c.1479+1G>C rs1022476871
NM_000404.4(GLB1):c.1479+20C>G
NM_000404.4(GLB1):c.1479+7C>T
NM_000404.4(GLB1):c.1479G>T (p.Lys493Asn) rs1172435886
NM_000404.4(GLB1):c.1480-12T>G
NM_000404.4(GLB1):c.1480-16T>C
NM_000404.4(GLB1):c.1480-9G>A rs2125463527
NM_000404.4(GLB1):c.148T>C (p.Tyr50His)
NM_000404.4(GLB1):c.1491_1492insTTTAAATTTATTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACNNNNNNNNNNTTTTATTTTTTGAGACGGAGTCTTGCTCTGTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCAGGGTTTGGTTTCTT (p.Ser497_Asn498insPheLysPheIleLeuLeuIleIleLeuGlyCysPheSerGlnArgGlyIleTrpGlnGlyHisGlyThrXaaXaaXaaPheTyrPheLeuArgArgSerLeuAlaLeuLeuSerGlyTrpSerAlaValValGlnSerArgLeuThrAlaThrArgValTrpPheLeu)
NM_000404.4(GLB1):c.1495C>T (p.Leu499=) rs2125463485
NM_000404.4(GLB1):c.1498A>T (p.Thr500Ser)
NM_000404.4(GLB1):c.1500T>G (p.Thr500=)
NM_000404.4(GLB1):c.1501C>G (p.Leu501Val)
NM_000404.4(GLB1):c.1505G>A (p.Ser502Asn)
NM_000404.4(GLB1):c.1508C>A (p.Ser503Tyr)
NM_000404.4(GLB1):c.150C>T (p.Tyr50=) rs2125553832
NM_000404.4(GLB1):c.1510_1511insGA (p.Asn504fs) rs1553606128
NM_000404.4(GLB1):c.1512T>C (p.Asn504=) rs981899210
NM_000404.4(GLB1):c.1515C>T (p.Ile505=) rs2125463459
NM_000404.4(GLB1):c.1516C>A (p.Leu506Ile)
NM_000404.4(GLB1):c.1518C>G (p.Leu506=) rs748176346
NM_000404.4(GLB1):c.151A>C (p.Ile51Leu)
NM_000404.4(GLB1):c.1520C>T (p.Thr507Met)
NM_000404.4(GLB1):c.1527G>T (p.Trp509Cys) rs72555363
NM_000404.4(GLB1):c.152T>A (p.Ile51Asn) rs72555390
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) rs72555390
NM_000404.4(GLB1):c.1537C>T (p.Pro513Ser)
NM_000404.4(GLB1):c.1545C>T (p.Asp515=) rs2125463395
NM_000404.4(GLB1):c.1556C>T (p.Ala519Val) rs2125463380
NM_000404.4(GLB1):c.1557A>G (p.Ala519=)
NM_000404.4(GLB1):c.1561_1562inv (p.Cys521His)
NM_000404.4(GLB1):c.1566C>T (p.Ser522=) rs1697148439
NM_000404.4(GLB1):c.1570C>T (p.Leu524=)
NM_000404.4(GLB1):c.1574_1583del (p.Gly525fs) rs2125463301
NM_000404.4(GLB1):c.1576_1583dup (p.His529fs) rs2125463306
NM_000404.4(GLB1):c.1577del (p.Gly526fs)
NM_000404.4(GLB1):c.1577dup (p.Trp527fs) rs794729217
NM_000404.4(GLB1):c.1582G>T (p.Gly528Ter)
NM_000404.4(GLB1):c.1583del (p.Gly528fs)
NM_000404.4(GLB1):c.1584A>G (p.Gly528=)
NM_000404.4(GLB1):c.1585C>T (p.His529Tyr)
NM_000404.4(GLB1):c.1587_1590dup (p.Asp531delinsProTer) rs2125463278
NM_000404.4(GLB1):c.1593_1594inv (p.Ser532Gly)
NM_000404.4(GLB1):c.1599C>A (p.Gly533=)
NM_000404.4(GLB1):c.1602C>T (p.His534=)
NM_000404.4(GLB1):c.1605T>C (p.His535=) rs1697144237
NM_000404.4(GLB1):c.160A>G (p.Ser54Gly)
NM_000404.4(GLB1):c.1612G>A (p.Ala538Thr)
NM_000404.4(GLB1):c.1616G>A (p.Trp539Ter) rs2125463197
NM_000404.4(GLB1):c.1620C>T (p.Ala540=) rs1697142798
NM_000404.4(GLB1):c.1634dup (p.Asn545fs) rs754131566
NM_000404.4(GLB1):c.1635C>T (p.Asn545=)
NM_000404.4(GLB1):c.163del (p.Ile55fs) rs1575475703
NM_000404.4(GLB1):c.1640C>T (p.Thr547Met)
NM_000404.4(GLB1):c.1641G>T (p.Thr547=)
NM_000404.4(GLB1):c.1644C>T (p.Leu548=) rs761482093
NM_000404.4(GLB1):c.1645C>T (p.Pro549Ser) rs2125463133
NM_000404.4(GLB1):c.1647G>C (p.Pro549=)
NM_000404.4(GLB1):c.1650C>G (p.Ala550=) rs2125463119
NM_000404.4(GLB1):c.1653T>C (p.Phe551=)
NM_000404.4(GLB1):c.1654dup (p.Tyr552fs)
NM_000404.4(GLB1):c.1656T>C (p.Tyr552=) rs2125463110
NM_000404.4(GLB1):c.165T>C (p.Ile55=)
NM_000404.4(GLB1):c.1660G>A (p.Gly554Arg)
NM_000404.4(GLB1):c.1662G>A (p.Gly554=)
NM_000404.4(GLB1):c.1662G>T (p.Gly554=)
NM_000404.4(GLB1):c.1665C>T (p.Asn555=) rs55974537
NM_000404.4(GLB1):c.1667T>C (p.Phe556Ser)
NM_000404.4(GLB1):c.1672A>G (p.Ile558Val)
NM_000404.4(GLB1):c.1680T>C (p.Ser560=)
NM_000404.4(GLB1):c.1685dup (p.Asp564fs) rs1697138071
NM_000404.4(GLB1):c.1689A>G (p.Pro563=)
NM_000404.4(GLB1):c.168C>G (p.His56Gln) rs745385633
NM_000404.4(GLB1):c.1692C>T (p.Asp564=)
NM_000404.4(GLB1):c.1697C>A (p.Pro566His) rs1575410340
NM_000404.4(GLB1):c.1698C>T (p.Pro566=) rs1051472577
NM_000404.4(GLB1):c.1701G>A (p.Gln567=) rs2125463030
NM_000404.4(GLB1):c.1703A>G (p.Asp568Gly)
NM_000404.4(GLB1):c.1704C>T (p.Asp568=) rs2125463027
NM_000404.4(GLB1):c.1707C>T (p.Thr569=)
NM_000404.4(GLB1):c.1714C>T (p.Gln572Ter) rs1803200
NM_000404.4(GLB1):c.1716G>A (p.Gln572=)
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter) rs398123350
NM_000404.4(GLB1):c.1724_1725delinsTG (p.Gly575Val)
NM_000404.4(GLB1):c.1725A>G (p.Gly575=)
NM_000404.4(GLB1):c.1725A>T (p.Gly575=)
NM_000404.4(GLB1):c.1728G>A (p.Trp576Ter)
NM_000404.4(GLB1):c.1734+13A>G
NM_000404.4(GLB1):c.1734+13A>T
NM_000404.4(GLB1):c.1734+14T>C
NM_000404.4(GLB1):c.1734+4C>T
NM_000404.4(GLB1):c.1735-10C>T rs766907320
NM_000404.4(GLB1):c.1735-12C>G
NM_000404.4(GLB1):c.1735-15TC[4] rs745361874
NM_000404.4(GLB1):c.1735-15TC[5] rs745361874
NM_000404.4(GLB1):c.1735-15TC[7] rs745361874
NM_000404.4(GLB1):c.1735-16G>C rs1696353148
NM_000404.4(GLB1):c.1735-16_1735-9dup rs1696352317
NM_000404.4(GLB1):c.1735-4C>G rs1696352042
NM_000404.4(GLB1):c.1735-8C>G
NM_000404.4(GLB1):c.1735-8C>T rs772741040
NM_000404.4(GLB1):c.1739A>G (p.Gln580Arg) rs2125442981
NM_000404.4(GLB1):c.173C>T (p.Ser58Phe) rs1302203983
NM_000404.4(GLB1):c.1742T>G (p.Val581Gly)
NM_000404.4(GLB1):c.174C>G (p.Ser58=)
NM_000404.4(GLB1):c.1752T>C (p.Asn584=) rs2125442971
NM_000404.4(GLB1):c.1761C>T (p.Asn587=)
NM_000404.4(GLB1):c.1764T>C (p.Leu588=) rs2125442941
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser) rs794727165
NM_000404.4(GLB1):c.1768C>G (p.Arg590Gly)
NM_000404.4(GLB1):c.176G>T (p.Arg59Leu) rs72555392
NM_000404.4(GLB1):c.1771T>C (p.Tyr591His)
NM_000404.4(GLB1):c.1772A>C (p.Tyr591Ser) rs72555371
NM_000404.4(GLB1):c.1784G>A (p.Arg595Gln) rs199694629
NM_000404.4(GLB1):c.1785G>A (p.Arg595=) rs2125442900
NM_000404.4(GLB1):c.1787G>A (p.Gly596Asp) rs1696348575
NM_000404.4(GLB1):c.1794G>A (p.Gln598=) rs751382165
NM_000404.4(GLB1):c.1801T>C (p.Leu601=)
NM_000404.4(GLB1):c.1803G>A (p.Leu601=) rs2125442880
NM_000404.4(GLB1):c.1812C>G (p.Pro604=) rs765307992
NM_000404.4(GLB1):c.1812C>T (p.Pro604=)
NM_000404.4(GLB1):c.1821C>A (p.Ile607=) rs959353985
NM_000404.4(GLB1):c.1833G>C (p.Ser611=) rs201755284
NM_000404.4(GLB1):c.1842C>T (p.Asn614=)
NM_000404.4(GLB1):c.184C>T (p.Arg62Cys)
NM_000404.4(GLB1):c.1854G>A (p.Val618=)
NM_000404.4(GLB1):c.1854G>C (p.Val618=)
NM_000404.4(GLB1):c.1855C>A (p.Leu619Met)
NM_000404.4(GLB1):c.1855C>T (p.Leu619=)
NM_000404.4(GLB1):c.1897C>G (p.Leu633Val)
NM_000404.4(GLB1):c.1899A>G (p.Leu633=)
NM_000404.4(GLB1):c.1899A>T (p.Leu633=)
NM_000404.4(GLB1):c.189C>G (p.Phe63Leu)
NM_000404.4(GLB1):c.1903G>T (p.Ala635Ser)
NM_000404.4(GLB1):c.1905T>C (p.Ala635=)
NM_000404.4(GLB1):c.1911G>T (p.Thr637=)
NM_000404.4(GLB1):c.1917G>C (p.Val639=)
NM_000404.4(GLB1):c.191A>G (p.Tyr64Cys) rs759483184
NM_000404.4(GLB1):c.192C>T (p.Tyr64=) rs2125553741
NM_000404.4(GLB1):c.1935C>A (p.Gly645=) rs1238912483
NM_000404.4(GLB1):c.1947C>T (p.Thr649=)
NM_000404.4(GLB1):c.1951G>A (p.Asp651Asn)
NM_000404.4(GLB1):c.1969G>A (p.Val657Ile)
NM_000404.4(GLB1):c.1979G>A (p.Arg660Lys)
NM_000404.4(GLB1):c.1980A>G (p.Arg660=) rs2125442653
NM_000404.4(GLB1):c.1981C>T (p.Leu661Phe)
NM_000404.4(GLB1):c.1989C>T (p.Pro663=) rs1297904248
NM_000404.4(GLB1):c.1990C>T (p.Pro664Ser)
NM_000404.4(GLB1):c.1992A>C (p.Pro664=)
NM_000404.4(GLB1):c.1995C>G (p.Pro665=) rs1300459240
NM_000404.4(GLB1):c.1997C>T (p.Pro666Leu) rs754538192
NM_000404.4(GLB1):c.2006del (p.Asn669fs) rs759633494
NM_000404.4(GLB1):c.2006dup (p.Asn669fs) rs759633494
NM_000404.4(GLB1):c.2008A>G (p.Lys670Glu) rs2125442597
NM_000404.4(GLB1):c.2009_2010del (p.Lys670fs)
NM_000404.4(GLB1):c.2012A>G (p.Asp671Gly)
NM_000404.4(GLB1):c.2016A>T (p.Ser672=)
NM_000404.4(GLB1):c.2022G>A (p.Leu674=)
NM_000404.4(GLB1):c.2028T>C (p.His676=) rs753028572
NM_000404.4(GLB1):c.202C>G (p.Arg68Gly) rs72555370
NM_000404.4(GLB1):c.203G>T (p.Arg68Leu) rs572237881
NM_000404.4(GLB1):c.204G>T (p.Arg68=) rs1309516618
NM_000404.4(GLB1):c.209T>C (p.Leu70Pro)
NM_000404.4(GLB1):c.210G>A (p.Leu70=)
NM_000404.4(GLB1):c.218A>G (p.Lys73Arg) rs776889510
NM_000404.4(GLB1):c.228G>A (p.Gly76=)
NM_000404.4(GLB1):c.228G>C (p.Gly76=) rs1279874417
NM_000404.4(GLB1):c.229C>T (p.Leu77=) rs2125553699
NM_000404.4(GLB1):c.245+10A>T
NM_000404.4(GLB1):c.245+13G>A
NM_000404.4(GLB1):c.245+16T>C
NM_000404.4(GLB1):c.245+19G>A
NM_000404.4(GLB1):c.245+19G>T
NM_000404.4(GLB1):c.245+1G>C rs778423653
NM_000404.4(GLB1):c.245+3A>G
NM_000404.4(GLB1):c.245+6T>C
NM_000404.4(GLB1):c.246-10G>A
NM_000404.4(GLB1):c.246-10G>T
NM_000404.4(GLB1):c.246-11T>G
NM_000404.4(GLB1):c.246-13T>C
NM_000404.4(GLB1):c.246-16G>C
NM_000404.4(GLB1):c.246-16GT[2]
NM_000404.4(GLB1):c.246-18C>T
NM_000404.4(GLB1):c.246-20G>A
NM_000404.4(GLB1):c.246-20G>C
NM_000404.4(GLB1):c.246-2A>G rs2125548861
NM_000404.4(GLB1):c.248A>G (p.Tyr83Cys) rs1553612220
NM_000404.4(GLB1):c.257G>A (p.Trp86Ter) rs2125548844
NM_000404.4(GLB1):c.261C>T (p.Asn87=)
NM_000404.4(GLB1):c.262T>C (p.Phe88Leu)
NM_000404.4(GLB1):c.268G>C (p.Glu90Gln)
NM_000404.4(GLB1):c.270G>A (p.Glu90=) rs749743340
NM_000404.4(GLB1):c.278C>A (p.Pro93Gln)
NM_000404.4(GLB1):c.279A>G (p.Pro93=)
NM_000404.4(GLB1):c.281G>A (p.Gly94Glu) rs1430354883
NM_000404.4(GLB1):c.304C>G (p.His102Asp)
NM_000404.4(GLB1):c.315A>G (p.Glu105=) rs994997539
NM_000404.4(GLB1):c.318T>C (p.Tyr106=)
NM_000404.4(GLB1):c.319T>C (p.Phe107Leu) rs397515616
NM_000404.4(GLB1):c.321T>C (p.Phe107=)
NM_000404.4(GLB1):c.326G>A (p.Arg109Gln)
NM_000404.4(GLB1):c.327G>C (p.Arg109=)
NM_000404.4(GLB1):c.331G>A (p.Ala111Thr)
NM_000404.4(GLB1):c.342G>A (p.Leu114=) rs2125548706
NM_000404.4(GLB1):c.344del (p.Gly115fs)
NM_000404.4(GLB1):c.349C>T (p.Leu117=)
NM_000404.4(GLB1):c.357C>G (p.Ile119Met)
NM_000404.4(GLB1):c.360G>A (p.Leu120=) rs1699791877
NM_000404.4(GLB1):c.363G>A (p.Arg121=)
NM_000404.4(GLB1):c.366C>G (p.Pro122=) rs769972414
NM_000404.4(GLB1):c.376A>G (p.Ile126Val) rs886058343
NM_000404.4(GLB1):c.378C>T (p.Ile126=)
NM_000404.4(GLB1):c.384A>G (p.Ala128=)
NM_000404.4(GLB1):c.396+11C>G
NM_000404.4(GLB1):c.396+14G>T
NM_000404.4(GLB1):c.396+15A>G
NM_000404.4(GLB1):c.396+20G>A
NM_000404.4(GLB1):c.396+2T>C rs1057517738
NM_000404.4(GLB1):c.396+7G>T
NM_000404.4(GLB1):c.396+9G>A
NM_000404.4(GLB1):c.397-11C>T
NM_000404.4(GLB1):c.397-17T>C
NM_000404.4(GLB1):c.397-19C>T
NM_000404.4(GLB1):c.397-8T>C
NM_000404.4(GLB1):c.397G>T (p.Gly133Ter) rs2125547910
NM_000404.4(GLB1):c.399A>G (p.Gly133=)
NM_000404.4(GLB1):c.401G>T (p.Gly134Val) rs773562141
NM_000404.4(GLB1):c.411T>C (p.Ala137=) rs2125547891
NM_000404.4(GLB1):c.424A>T (p.Lys142Ter) rs776213501
NM_000404.4(GLB1):c.425_428del (p.Lys142fs) rs1699765928
NM_000404.4(GLB1):c.426dup (p.Glu143fs)
NM_000404.4(GLB1):c.429G>A (p.Glu143=)
NM_000404.4(GLB1):c.433_437del (p.Ile145fs) rs1553612145
NM_000404.4(GLB1):c.435T>C (p.Ile145=)
NM_000404.4(GLB1):c.435TCT[1] (p.Leu147del) rs751033858
NM_000404.4(GLB1):c.439C>T (p.Leu147Phe) rs1553612143
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser) rs192732174
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys) rs192732174
NM_000404.4(GLB1):c.443G>T (p.Arg148Leu)
NM_000404.4(GLB1):c.447C>T (p.Ser149=)
NM_000404.4(GLB1):c.454C>A (p.Pro152Thr)
NM_000404.4(GLB1):c.457+11dup
NM_000404.4(GLB1):c.457+12C>A
NM_000404.4(GLB1):c.457+14G>A
NM_000404.4(GLB1):c.457+15A>G
NM_000404.4(GLB1):c.457+19C>T
NM_000404.4(GLB1):c.457+20T>C
NM_000404.4(GLB1):c.457+2T>C rs398123354
NM_000404.4(GLB1):c.457+3A>G
NM_000404.4(GLB1):c.458-13T>C
NM_000404.4(GLB1):c.458-13del
NM_000404.4(GLB1):c.458-14T>A
NM_000404.4(GLB1):c.458-5T>C
NM_000404.4(GLB1):c.462C>T (p.Tyr154=)
NM_000404.4(GLB1):c.467C>T (p.Ala156Val)
NM_000404.4(GLB1):c.473del (p.Val158fs) rs2125543662
NM_000404.4(GLB1):c.482G>A (p.Trp161Ter)
NM_000404.4(GLB1):c.485del (p.Leu162fs)
NM_000404.4(GLB1):c.486G>A (p.Leu162=) rs2125543638
NM_000404.4(GLB1):c.492C>G (p.Val164=)
NM_000404.4(GLB1):c.495_497del (p.Leu166del) rs754077128
NM_000404.4(GLB1):c.504G>A (p.Lys168=)
NM_000404.4(GLB1):c.510G>A (p.Lys170=)
NM_000404.4(GLB1):c.514CTC[1] (p.Leu173del)
NM_000404.4(GLB1):c.516C>T (p.Leu172=)
NM_000404.4(GLB1):c.517C>T (p.Leu173Phe)
NM_000404.4(GLB1):c.518T>C (p.Leu173Pro) rs397515617
NM_000404.4(GLB1):c.519C>G (p.Leu173=) rs2125543586
NM_000404.4(GLB1):c.520T>G (p.Tyr174Asp)
NM_000404.4(GLB1):c.521A>C (p.Tyr174Ser) rs2125543580
NM_000404.4(GLB1):c.531_534del (p.Gly178fs) rs1559408259
NM_000404.4(GLB1):c.546A>G (p.Thr182=) rs1161551535
NM_000404.4(GLB1):c.550C>T (p.Gln184Ter)
NM_000404.4(GLB1):c.552+13T>A
NM_000404.4(GLB1):c.552+19A>G
NM_000404.4(GLB1):c.552+1G>A
NM_000404.4(GLB1):c.552+2T>C rs1553611778
NM_000404.4(GLB1):c.552+7C>G
NM_000404.4(GLB1):c.552+8T>C rs1373621081
NM_000404.4(GLB1):c.553-1G>C rs1575459735
NM_000404.4(GLB1):c.553-20T>C
NM_000404.4(GLB1):c.553-2A>T rs2125533195
NM_000404.4(GLB1):c.558A>G (p.Glu186=)
NM_000404.4(GLB1):c.560dup (p.Asn187fs)
NM_000404.4(GLB1):c.562G>T (p.Glu188Ter)
NM_000404.4(GLB1):c.572G>A (p.Ser191Asn) rs1553611055
NM_000404.4(GLB1):c.572G>C (p.Ser191Thr)
NM_000404.4(GLB1):c.572G>T (p.Ser191Ile)
NM_000404.4(GLB1):c.576C>T (p.Tyr192=)
NM_000404.4(GLB1):c.579T>C (p.Phe193=)
NM_000404.4(GLB1):c.581C>T (p.Ala194Val)
NM_000404.4(GLB1):c.586G>C (p.Asp196His) rs2125533137
NM_000404.4(GLB1):c.591del (p.Phe197fs)
NM_000404.4(GLB1):c.591dup (p.Asp198Ter) rs2125533127
NM_000404.4(GLB1):c.592G>C (p.Asp198His)
NM_000404.4(GLB1):c.597C>T (p.Tyr199=) rs1404645663
NM_000404.4(GLB1):c.606C>T (p.Phe202=)
NM_000404.4(GLB1):c.617G>A (p.Arg206His)
NM_000404.4(GLB1):c.621T>C (p.Phe207=)
NM_000404.4(GLB1):c.623G>T (p.Arg208Leu)
NM_000404.4(GLB1):c.624C>T (p.Arg208=) rs2125533076
NM_000404.4(GLB1):c.625C>T (p.His209Tyr) rs1699296800
NM_000404.4(GLB1):c.627C>T (p.His209=)
NM_000404.4(GLB1):c.631C>T (p.Leu211=)
NM_000404.4(GLB1):c.633G>A (p.Leu211=)
NM_000404.4(GLB1):c.639T>C (p.Asp213=)
NM_000404.4(GLB1):c.666A>G (p.Gly222=)
NM_000404.4(GLB1):c.670C>G (p.His224Asp)
NM_000404.4(GLB1):c.677del (p.Thr226fs)
NM_000404.4(GLB1):c.678A>G (p.Thr226=) rs543022319
NM_000404.4(GLB1):c.678A>T (p.Thr226=)
NM_000404.4(GLB1):c.693G>A (p.Gly231=)
NM_000404.4(GLB1):c.693G>C (p.Gly231=) rs754493105
NM_000404.4(GLB1):c.694dup (p.Ala232fs) rs1553611025
NM_000404.4(GLB1):c.696C>T (p.Ala232=)
NM_000404.4(GLB1):c.697C>A (p.Leu233Met)
NM_000404.4(GLB1):c.699G>T (p.Leu233=)
NM_000404.4(GLB1):c.708C>T (p.Leu236=) rs369299644
NM_000404.4(GLB1):c.710A>G (p.Tyr237Cys)
NM_000404.4(GLB1):c.711C>T (p.Tyr237=) rs757982518
NM_000404.4(GLB1):c.712A>G (p.Thr238Ala) rs750237687
NM_000404.4(GLB1):c.717G>T (p.Thr239=) rs761692955
NM_000404.4(GLB1):c.729A>G (p.Gly243=)
NM_000404.4(GLB1):c.733+10T>C
NM_000404.4(GLB1):c.733+11G>A
NM_000404.4(GLB1):c.733+13A>T
NM_000404.4(GLB1):c.733+1G>A rs1041204916
NM_000404.4(GLB1):c.733+20G>A
NM_000404.4(GLB1):c.733+2T>C rs1699291583
NM_000404.4(GLB1):c.733+7G>A rs2125532858
NM_000404.4(GLB1):c.734-10C>T
NM_000404.4(GLB1):c.734-11A>G
NM_000404.4(GLB1):c.734-11dup
NM_000404.4(GLB1):c.734-14C>G
NM_000404.4(GLB1):c.734-14C>T
NM_000404.4(GLB1):c.734-16C>T
NM_000404.4(GLB1):c.734-17C>T
NM_000404.4(GLB1):c.734-2A>G rs1699088102
NM_000404.4(GLB1):c.747A>T (p.Thr249=)
NM_000404.4(GLB1):c.750T>C (p.Asp250=)
NM_000404.4(GLB1):c.751G>A (p.Ala251Thr) rs1423200446
NM_000404.4(GLB1):c.76-12C>A
NM_000404.4(GLB1):c.76-16del
NM_000404.4(GLB1):c.76-17C>T
NM_000404.4(GLB1):c.76-1G>T
NM_000404.4(GLB1):c.76-4G>A rs2125553992
NM_000404.4(GLB1):c.76-5T>C
NM_000404.4(GLB1):c.76-9G>A rs1340962080
NM_000404.4(GLB1):c.76-9G>T
NM_000404.4(GLB1):c.76-9_76-8delinsAA rs2125553998
NM_000404.4(GLB1):c.765G>C (p.Gln255His) rs1553610553
NM_000404.4(GLB1):c.765G>T (p.Gln255His)
NM_000404.4(GLB1):c.768G>A (p.Arg256=)
NM_000404.4(GLB1):c.769_792+13del rs1282958432
NM_000404.4(GLB1):c.771G>A (p.Lys257=)
NM_000404.4(GLB1):c.774T>A (p.Cys258Ter)
NM_000404.4(GLB1):c.779C>A (p.Pro260His) rs2125525594
NM_000404.4(GLB1):c.780C>T (p.Pro260=)
NM_000404.4(GLB1):c.785G>A (p.Gly262Glu)
NM_000404.4(GLB1):c.785G>T (p.Gly262Val)
NM_000404.4(GLB1):c.786A>C (p.Gly262=)
NM_000404.4(GLB1):c.789C>G (p.Pro263=) rs1306950895
NM_000404.4(GLB1):c.789C>T (p.Pro263=) rs1306950895
NM_000404.4(GLB1):c.78T>C (p.Asn26=) rs2125553988
NM_000404.4(GLB1):c.792+10G>A rs79518579
NM_000404.4(GLB1):c.792+10G>C rs79518579
NM_000404.4(GLB1):c.792+10G>T rs79518579
NM_000404.4(GLB1):c.792+16G>C
NM_000404.4(GLB1):c.792+18G>A rs202068250
NM_000404.4(GLB1):c.792+9C>A rs755373106
NM_000404.4(GLB1):c.792+9C>T
NM_000404.4(GLB1):c.793-13T>G
NM_000404.4(GLB1):c.793-14dup rs943395100
NM_000404.4(GLB1):c.793-18G>A
NM_000404.4(GLB1):c.793-20A>G rs1231370554
NM_000404.4(GLB1):c.802G>C (p.Glu268Gln)
NM_000404.4(GLB1):c.804A>G (p.Glu268=)
NM_000404.4(GLB1):c.806T>C (p.Phe269Ser)
NM_000404.4(GLB1):c.813T>C (p.Thr271=) rs2125523180
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu) rs1559401428
NM_000404.4(GLB1):c.819G>A (p.Trp273Ter) rs1378338444
NM_000404.4(GLB1):c.81C>T (p.Ala27=)
NM_000404.4(GLB1):c.827A>C (p.His276Pro) rs1559401406
NM_000404.4(GLB1):c.833del (p.Gly278fs)
NM_000404.4(GLB1):c.837A>C (p.Gln279His)
NM_000404.4(GLB1):c.838C>G (p.Pro280Ala)
NM_000404.4(GLB1):c.838C>T (p.Pro280Ser)
NM_000404.4(GLB1):c.842A>G (p.His281Arg)
NM_000404.4(GLB1):c.843C>T (p.His281=) rs1486962222
NM_000404.4(GLB1):c.846del (p.Thr283fs) rs1553610382
NM_000404.4(GLB1):c.84C>T (p.Thr28=) rs2125553969
NM_000404.4(GLB1):c.873C>T (p.Ser291=) rs755951134
NM_000404.4(GLB1):c.876C>T (p.Ser292=) rs1699010204
NM_000404.4(GLB1):c.879C>G (p.Leu293=)
NM_000404.4(GLB1):c.879C>T (p.Leu293=) rs1445139978
NM_000404.4(GLB1):c.87G>T (p.Gln29His)
NM_000404.4(GLB1):c.881_882del (p.Leu293_Tyr294insTer) rs767704163
NM_000404.4(GLB1):c.882T>C (p.Tyr294=)
NM_000404.4(GLB1):c.895C>T (p.Arg299Cys)
NM_000404.4(GLB1):c.900_903dup (p.Ser302fs) rs1699008262
NM_000404.4(GLB1):c.903G>A (p.Ala301=) rs1182083485
NM_000404.4(GLB1):c.903G>T (p.Ala301=) rs1182083485
NM_000404.4(GLB1):c.905G>A (p.Ser302Asn)
NM_000404.4(GLB1):c.905G>C (p.Ser302Thr)
NM_000404.4(GLB1):c.905G>T (p.Ser302Ile) rs2125523018
NM_000404.4(GLB1):c.909G>A (p.Val303=) rs1575451771
NM_000404.4(GLB1):c.911A>G (p.Asn304Ser)
NM_000404.4(GLB1):c.912C>T (p.Asn304=) rs2125523009
NM_000404.4(GLB1):c.914+15C>T
NM_000404.4(GLB1):c.914+15_914+16delinsAGTGTGAACTTGTGAGTGTTT
NM_000404.4(GLB1):c.914+17T>C
NM_000404.4(GLB1):c.914+18G>T
NM_000404.4(GLB1):c.914+5G>A
NM_000404.4(GLB1):c.914+7G>C rs2125522998
NM_000404.4(GLB1):c.915-11T>G
NM_000404.4(GLB1):c.915-14T>C
NM_000404.4(GLB1):c.915-18T>C
NM_000404.4(GLB1):c.915-1G>T rs749020375
NM_000404.4(GLB1):c.915-2A>G
NM_000404.4(GLB1):c.915-4G>A rs1559401172
NM_000404.4(GLB1):c.915-8C>G rs1003927822
NM_000404.4(GLB1):c.915G>C (p.Leu305Phe)
NM_000404.4(GLB1):c.932G>A (p.Gly311Glu)
NM_000404.4(GLB1):c.936C>A (p.Thr312=)
NM_000404.4(GLB1):c.936C>G (p.Thr312=)
NM_000404.4(GLB1):c.937A>G (p.Asn313Asp)
NM_000404.4(GLB1):c.938A>G (p.Asn313Ser)
NM_000404.4(GLB1):c.945C>T (p.Ala315=) rs1405318301
NM_000404.4(GLB1):c.955+14A>C
NM_000404.4(GLB1):c.955+2T>G rs746883447
NM_000404.4(GLB1):c.955+5G>A
NM_000404.4(GLB1):c.955+8C>T rs757268704
NM_000404.4(GLB1):c.956-14T>C
NM_000404.4(GLB1):c.956-19G>A
NM_000404.4(GLB1):c.956-19G>T
NM_000404.4(GLB1):c.956-4C>A
NM_000404.4(GLB1):c.956G>A (p.Gly319Glu) rs2125514180
NM_000404.4(GLB1):c.963C>T (p.Asn321=) rs1698734997
NM_000404.4(GLB1):c.964_965del (p.Ser322fs) rs1698734900
NM_000404.4(GLB1):c.967C>G (p.Pro323Ala) rs1575445193
NM_000404.4(GLB1):c.971A>C (p.Tyr324Ser)
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys) rs977975596
NM_000404.4(GLB1):c.975A>G (p.Ala325=) rs1380215832
NM_000404.4(GLB1):c.981G>A (p.Gln327=)
NM_000404.4(GLB1):c.982C>T (p.Pro328Ser) rs1244404381
NM_000404.4(GLB1):c.987C>T (p.Thr329=) rs777781037
NM_000404.4(GLB1):c.990C>T (p.Ser330=)
NM_000404.4(GLB1):c.994_995del (p.Asp332fs)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.