ClinVar Miner

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

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ClinVar version:
Total variants: 868
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HGVS dbSNP gnomAD frequency
NM_000404.4(GLB1):c.1561T>C (p.Cys521Arg) rs4302331 0.93112
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776 0.88431
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099 0.48281
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.31C>G (p.Leu11Val) rs77988381 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.75+2dup rs587776525 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.40G>C (p.Val14Leu) rs376500233 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.61A>G (p.Thr21Ala) rs201903758 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_001039770.3(TMPPE):c.-398A>G rs369627064 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.4C>A (p.Pro2Thr) rs772539129 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.27C>T (p.Leu9=) rs905194921 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.20G>C (p.Arg7Pro) rs1484753571 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.5C>G (p.Pro2Arg) rs779544911 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.66C>T (p.Arg22=) rs987707141 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
NM_001039770.3(TMPPE):c.-391C>T rs766309446 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
NC_000003.12:g.33097285A>C
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.12C>T (p.Phe4=)
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.15G>T (p.Leu5=) rs755578948
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.27C>G (p.Leu9=)
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.31C>T (p.Leu11=) rs77988381
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.33G>C (p.Leu11=)
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.37C>T (p.Leu13=)
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.42T>C (p.Val14=) rs2125591563
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.45G>C (p.Leu15=)
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.4C>G (p.Pro2Ala) rs772539129
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.51dup (p.Leu18fs) rs398123356
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.5C>T (p.Pro2Leu)
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.62C>T (p.Thr21Met)
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.63G>A (p.Thr21=) rs2125591533
NM_000404.4(GLB1):c.65_75+1del rs1382394474
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.67G>A (p.Gly23Ser)
NM_000404.4(GLB1):c.68G>A (p.Gly23Asp)
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.69C>A (p.Gly23=) rs780964758
NM_000404.4(GLB1):c.69C>G (p.Gly23=) rs780964758
NM_000404.4(GLB1):c.69_75+1del
NM_000404.4(GLB1):c.6G>A (p.Pro2=)
NM_000404.4(GLB1):c.708C>T (p.Leu236=) rs369299644
NM_000404.4(GLB1):c.70T>C (p.Leu24=)
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)
NM_000404.4(GLB1):c.9G>A (p.Gly3=) rs1175346838
NM_001039770.3(TMPPE):c.-381G>A
NM_001039770.3(TMPPE):c.-382G>A
NM_001039770.3(TMPPE):c.-385C>T
NM_001039770.3(TMPPE):c.-392G>A rs2125591459
NM_001039770.3(TMPPE):c.-393del
NM_001039770.3(TMPPE):c.-394C>G rs2125591464

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