ClinVar Miner

List of variants in gene GLB1 reported as likely benign for Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 456
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HGVS dbSNP gnomAD frequency
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.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.1521G>A (p.Thr507=) rs374924493 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.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.1601A>G (p.His534Arg) rs770982909 0.00008
NM_000404.4(GLB1):c.402A>T (p.Gly134=) rs371195938 0.00007
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.915-17C>A rs371566143 0.00006
NM_000404.4(GLB1):c.1069-4A>G rs781267265 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.1234-8C>G rs376560587 0.00004
NM_000404.4(GLB1):c.1348-7C>T rs774732235 0.00004
NM_000404.4(GLB1):c.1998G>A (p.Pro666=) rs746939617 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.1851C>T (p.Thr617=) rs1257941311 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.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.1647G>A (p.Pro549=) rs772573490 0.00002
NM_000404.4(GLB1):c.2007C>T (p.Asn669=) rs750202423 0.00002
NM_000404.4(GLB1):c.327G>T (p.Arg109=) rs751602590 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.780C>G (p.Pro260=) rs763307375 0.00002
NM_000404.4(GLB1):c.793-9T>A rs765504729 0.00002
NM_000404.4(GLB1):c.858C>T (p.Thr286=) rs770638519 0.00002
NM_000404.4(GLB1):c.993C>T (p.Tyr331=) rs752884772 0.00002
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.1234-10T>G rs774894435 0.00001
NM_000404.4(GLB1):c.1251G>A (p.Leu417=) rs770133205 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.141A>G (p.Pro47=) rs1417933450 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.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.1638C>T (p.Tyr546=) rs752092360 0.00001
NM_000404.4(GLB1):c.1861C>T (p.Leu621=) rs748948967 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.2031A>G (p.Val677=) rs909928512 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.426A>G (p.Lys142=) rs768435736 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.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.734-6T>A rs1350583798 0.00001
NM_000404.4(GLB1):c.777G>A (p.Glu259=) rs766528936 0.00001
NM_000404.4(GLB1):c.792+19G>A rs745561290 0.00001
NM_000404.4(GLB1):c.837A>G (p.Gln279=) rs1461790939 0.00001
NM_000404.4(GLB1):c.849A>C (p.Thr283=) rs1238694687 0.00001
NM_000404.4(GLB1):c.915-10T>C rs770317304 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_000404.4(GLB1):c.1008A>G (p.Pro336=) rs2125514081
NM_000404.4(GLB1):c.1011G>C (p.Leu337=)
NM_000404.4(GLB1):c.1017G>A (p.Glu339=) rs2125514070
NM_000404.4(GLB1):c.1020T>C (p.Ala340=) rs2125514062
NM_000404.4(GLB1):c.1029C>T (p.Leu343=)
NM_000404.4(GLB1):c.1038G>A (p.Lys346=)
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.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.1074A>G (p.Glu358=) rs2125479142
NM_000404.4(GLB1):c.1083A>G (p.Pro361=)
NM_000404.4(GLB1):c.1086A>G (p.Glu362=) rs2125479069
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.112C>A (p.Arg38=)
NM_000404.4(GLB1):c.1143+11A>G
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.1144-4T>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.114G>A (p.Arg38=)
NM_000404.4(GLB1):c.1152A>C (p.Thr384=)
NM_000404.4(GLB1):c.1169A>G (p.Asp390Gly)
NM_000404.4(GLB1):c.1176G>C (p.Leu392=)
NM_000404.4(GLB1):c.1176G>T (p.Leu392=)
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.1224G>A (p.Gln408=)
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+15del
NM_000404.4(GLB1):c.1233+19T>C
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.1234-20T>G
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.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.1293T>C (p.Pro431=) rs535594294
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser) rs202237232
NM_000404.4(GLB1):c.1311T>C (p.Asn437=)
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.1329A>T (p.Ala443=)
NM_000404.4(GLB1):c.132T>C (p.Asp44=) rs2125553864
NM_000404.4(GLB1):c.1338T>C (p.Ala446=)
NM_000404.4(GLB1):c.1347+12C>T
NM_000404.4(GLB1):c.1347+13T>G
NM_000404.4(GLB1):c.1347+14C>T
NM_000404.4(GLB1):c.1347+16G>C
NM_000404.4(GLB1):c.1347+18A>C
NM_000404.4(GLB1):c.1347+19C>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.1348-7C>G
NM_000404.4(GLB1):c.1350C>T (p.Ile450=)
NM_000404.4(GLB1):c.1368G>A (p.Glu456=) rs1163359484
NM_000404.4(GLB1):c.1377T>C (p.Asn459=) rs557275388
NM_000404.4(GLB1):c.1380G>A (p.Val460=)
NM_000404.4(GLB1):c.1389G>T (p.Leu463=)
NM_000404.4(GLB1):c.138G>A (p.Gln46=) rs2125553849
NM_000404.4(GLB1):c.1416T>A (p.Thr472=)
NM_000404.4(GLB1):c.1428G>A (p.Leu476=)
NM_000404.4(GLB1):c.1449G>T (p.Val483=) rs2125466973
NM_000404.4(GLB1):c.1455T>C (p.Tyr485=)
NM_000404.4(GLB1):c.1467C>A (p.Ile489=)
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+20C>G
NM_000404.4(GLB1):c.1479+7C>T
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.1495C>T (p.Leu499=) rs2125463485
NM_000404.4(GLB1):c.1500T>G (p.Thr500=)
NM_000404.4(GLB1):c.150C>T (p.Tyr50=) rs2125553832
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.1518C>G (p.Leu506=) rs748176346
NM_000404.4(GLB1):c.1545C>T (p.Asp515=) rs2125463395
NM_000404.4(GLB1):c.1557A>G (p.Ala519=)
NM_000404.4(GLB1):c.1566C>T (p.Ser522=) rs1697148439
NM_000404.4(GLB1):c.1570C>T (p.Leu524=)
NM_000404.4(GLB1):c.1584A>G (p.Gly528=)
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.1620C>T (p.Ala540=) rs1697142798
NM_000404.4(GLB1):c.1635C>T (p.Asn545=)
NM_000404.4(GLB1):c.1641G>T (p.Thr547=)
NM_000404.4(GLB1):c.1644C>T (p.Leu548=) rs761482093
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.1656T>C (p.Tyr552=) rs2125463110
NM_000404.4(GLB1):c.165T>C (p.Ile55=)
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.1680T>C (p.Ser560=)
NM_000404.4(GLB1):c.1689A>G (p.Pro563=)
NM_000404.4(GLB1):c.1692C>T (p.Asp564=)
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.1704C>T (p.Asp568=) rs2125463027
NM_000404.4(GLB1):c.1707C>T (p.Thr569=)
NM_000404.4(GLB1):c.1716G>A (p.Gln572=)
NM_000404.4(GLB1):c.1725A>G (p.Gly575=)
NM_000404.4(GLB1):c.1725A>T (p.Gly575=)
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.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.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.1785G>A (p.Arg595=) rs2125442900
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.1854G>A (p.Val618=)
NM_000404.4(GLB1):c.1854G>C (p.Val618=)
NM_000404.4(GLB1):c.1855C>T (p.Leu619=)
NM_000404.4(GLB1):c.1899A>G (p.Leu633=)
NM_000404.4(GLB1):c.1899A>T (p.Leu633=)
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.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.1980A>G (p.Arg660=) rs2125442653
NM_000404.4(GLB1):c.1989C>T (p.Pro663=) rs1297904248
NM_000404.4(GLB1):c.1992A>C (p.Pro664=)
NM_000404.4(GLB1):c.1995C>G (p.Pro665=) rs1300459240
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.204G>T (p.Arg68=) rs1309516618
NM_000404.4(GLB1):c.210G>A (p.Leu70=)
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.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.246-18C>T
NM_000404.4(GLB1):c.246-20G>A
NM_000404.4(GLB1):c.246-20G>C
NM_000404.4(GLB1):c.261C>T (p.Asn87=)
NM_000404.4(GLB1):c.270G>A (p.Glu90=) rs749743340
NM_000404.4(GLB1):c.279A>G (p.Pro93=)
NM_000404.4(GLB1):c.315A>G (p.Glu105=) rs994997539
NM_000404.4(GLB1):c.318T>C (p.Tyr106=)
NM_000404.4(GLB1):c.321T>C (p.Phe107=)
NM_000404.4(GLB1):c.327G>C (p.Arg109=)
NM_000404.4(GLB1):c.342G>A (p.Leu114=) rs2125548706
NM_000404.4(GLB1):c.349C>T (p.Leu117=)
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.375C>T (p.Tyr125=)
NM_000404.4(GLB1):c.378C>T (p.Ile126=)
NM_000404.4(GLB1):c.384A>G (p.Ala128=)
NM_000404.4(GLB1):c.396+10G>T
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+18G>T
NM_000404.4(GLB1):c.396+20G>A
NM_000404.4(GLB1):c.396+7G>T
NM_000404.4(GLB1):c.396+9G>A
NM_000404.4(GLB1):c.397-10C>T
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.411T>C (p.Ala137=) rs2125547891
NM_000404.4(GLB1):c.429G>A (p.Glu143=)
NM_000404.4(GLB1):c.435T>C (p.Ile145=)
NM_000404.4(GLB1):c.447C>G (p.Ser149=)
NM_000404.4(GLB1):c.447C>T (p.Ser149=)
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.458-13T>C
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.486G>A (p.Leu162=) rs2125543638
NM_000404.4(GLB1):c.492C>G (p.Val164=)
NM_000404.4(GLB1):c.504G>A (p.Lys168=)
NM_000404.4(GLB1):c.510G>A (p.Lys170=)
NM_000404.4(GLB1):c.516C>T (p.Leu172=)
NM_000404.4(GLB1):c.519C>G (p.Leu173=) rs2125543586
NM_000404.4(GLB1):c.546A>G (p.Thr182=) rs1161551535
NM_000404.4(GLB1):c.552+13T>A
NM_000404.4(GLB1):c.552+19A>G
NM_000404.4(GLB1):c.552+7C>G
NM_000404.4(GLB1):c.552+8T>C rs1373621081
NM_000404.4(GLB1):c.553-20T>C
NM_000404.4(GLB1):c.558A>G (p.Glu186=)
NM_000404.4(GLB1):c.576C>T (p.Tyr192=)
NM_000404.4(GLB1):c.579T>C (p.Phe193=)
NM_000404.4(GLB1):c.597C>T (p.Tyr199=) rs1404645663
NM_000404.4(GLB1):c.606C>T (p.Phe202=)
NM_000404.4(GLB1):c.621T>C (p.Phe207=)
NM_000404.4(GLB1):c.624C>T (p.Arg208=) rs2125533076
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.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.696C>T (p.Ala232=)
NM_000404.4(GLB1):c.699G>T (p.Leu233=)
NM_000404.4(GLB1):c.708C>T (p.Leu236=) rs369299644
NM_000404.4(GLB1):c.711C>T (p.Tyr237=) rs757982518
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+20G>A
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.747A>T (p.Thr249=)
NM_000404.4(GLB1):c.750T>C (p.Asp250=)
NM_000404.4(GLB1):c.76-12C>A
NM_000404.4(GLB1):c.76-17C>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.768G>A (p.Arg256=)
NM_000404.4(GLB1):c.771G>A (p.Lys257=)
NM_000404.4(GLB1):c.780C>T (p.Pro260=)
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+16G>C
NM_000404.4(GLB1):c.792+18G>C
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.793-18G>A
NM_000404.4(GLB1):c.793-20A>G rs1231370554
NM_000404.4(GLB1):c.804A>G (p.Glu268=)
NM_000404.4(GLB1):c.813T>C (p.Thr271=) rs2125523180
NM_000404.4(GLB1):c.81C>T (p.Ala27=)
NM_000404.4(GLB1):c.825T>C (p.Asp275=)
NM_000404.4(GLB1):c.843C>T (p.His281=) rs1486962222
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.882T>C (p.Tyr294=)
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.909G>A (p.Val303=) rs1575451771
NM_000404.4(GLB1):c.912C>T (p.Asn304=) rs2125523009
NM_000404.4(GLB1):c.914+15C>T
NM_000404.4(GLB1):c.914+17T>C
NM_000404.4(GLB1):c.914+18G>T
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.915-18del
NM_000404.4(GLB1):c.915-4G>A rs1559401172
NM_000404.4(GLB1):c.915-8C>G rs1003927822
NM_000404.4(GLB1):c.936C>A (p.Thr312=)
NM_000404.4(GLB1):c.936C>G (p.Thr312=)
NM_000404.4(GLB1):c.945C>T (p.Ala315=) rs1405318301
NM_000404.4(GLB1):c.955+10C>T
NM_000404.4(GLB1):c.955+14A>C
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.963C>T (p.Asn321=) rs1698734997
NM_000404.4(GLB1):c.975A>G (p.Ala325=) rs1380215832
NM_000404.4(GLB1):c.981G>A (p.Gln327=)
NM_000404.4(GLB1):c.987C>T (p.Thr329=) rs777781037
NM_000404.4(GLB1):c.990C>T (p.Ser330=)

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