ClinVar Miner

List of variants studied for Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic

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Minimum conflict level:
ClinVar version:
Total variants: 786
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HGVS dbSNP gnomAD frequency
NM_000158.4(GBE1):c.1000A>G (p.Ile334Val) rs2172397 0.97909
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) rs2229519 0.29724
NM_000158.4(GBE1):c.143+10G>T rs9820490 0.12510
NM_000158.4(GBE1):c.579G>A (p.Lys193=) rs17019144 0.09257
NM_000158.4(GBE1):c.342C>T (p.Tyr114=) rs13320194 0.08854
NM_000158.4(GBE1):c.1519A>G (p.Thr507Ala) rs2228389 0.06703
NM_000158.4(GBE1):c.1716C>T (p.Asp572=) rs2229520 0.01610
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr) rs28763904 0.00604
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_000158.4(GBE1):c.143+11A>C rs145918282 0.00545
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572 0.00529
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902 0.00388
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066 0.00259
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971 0.00237
NM_000158.4(GBE1):c.1521T>C (p.Thr507=) rs372821643 0.00125
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) rs62267114 0.00125
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr) rs192877602 0.00116
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548 0.00071
NM_000158.4(GBE1):c.350T>C (p.Leu117Pro) rs186942296 0.00063
NM_000158.4(GBE1):c.24G>A (p.Ala8=) rs28763906 0.00062
NM_000158.4(GBE1):c.1237-18C>T rs368966861 0.00057
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser) rs185631651 0.00054
NM_000158.4(GBE1):c.1713C>T (p.Asp571=) rs373148836 0.00046
NM_000158.4(GBE1):c.1237-15C>T rs376809475 0.00039
NM_000158.4(GBE1):c.346A>G (p.Lys116Glu) rs377305989 0.00037
NM_000158.4(GBE1):c.2056T>C (p.Tyr686His) rs754607405 0.00035
NM_000158.4(GBE1):c.859G>C (p.Val287Leu) rs116899644 0.00033
NM_000158.4(GBE1):c.1080G>A (p.Thr360=) rs200645261 0.00031
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_000158.4(GBE1):c.990C>T (p.Ser330=) rs371194644 0.00027
NM_000158.4(GBE1):c.640G>A (p.Ala214Thr) rs201166587 0.00019
NM_000158.4(GBE1):c.313+15G>A rs184391304 0.00018
NM_000158.4(GBE1):c.278C>T (p.Pro93Leu) rs200746350 0.00017
NM_000158.4(GBE1):c.1803G>A (p.Gln601=) rs368793136 0.00014
NM_000158.4(GBE1):c.429+5T>G rs373240805 0.00014
NM_000158.4(GBE1):c.45G>A (p.Glu15=) rs370326965 0.00014
NM_000158.4(GBE1):c.993-19T>C rs374576644 0.00012
NM_000158.4(GBE1):c.1722T>C (p.Leu574=) rs367905308 0.00011
NM_000158.4(GBE1):c.1619-9G>A rs745318242 0.00010
NM_000158.4(GBE1):c.2036G>A (p.Arg679His) rs758188572 0.00010
NM_000158.4(GBE1):c.584G>A (p.Arg195Gln) rs368555635 0.00010
NM_000158.4(GBE1):c.1283G>C (p.Gly428Ala) rs756129254 0.00009
NM_000158.4(GBE1):c.496C>T (p.Arg166Cys) rs376546162 0.00009
NM_000158.4(GBE1):c.691+15T>C rs370417249 0.00009
NM_000158.4(GBE1):c.1522C>G (p.Pro508Ala) rs200544679 0.00008
NM_000158.4(GBE1):c.1995C>T (p.His665=) rs201515305 0.00008
NM_000158.4(GBE1):c.1389G>A (p.Thr463=) rs757933285 0.00007
NM_000158.4(GBE1):c.1965G>A (p.Ala655=) rs762480067 0.00007
NM_000158.4(GBE1):c.467G>A (p.Arg156His) rs374404487 0.00007
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys) rs760661724 0.00006
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888 0.00006
NM_000158.4(GBE1):c.1988T>C (p.Leu663Pro) rs761908536 0.00006
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511 0.00006
NM_000158.4(GBE1):c.527T>A (p.Ile176Lys) rs571116428 0.00006
NM_000158.4(GBE1):c.555+1G>T rs759707498 0.00006
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719 0.00006
NM_000158.4(GBE1):c.108G>A (p.Pro36=) rs775188750 0.00005
NM_000158.4(GBE1):c.1392C>T (p.Leu464=) rs563241317 0.00005
NM_000158.4(GBE1):c.1414A>G (p.Lys472Glu) rs749416254 0.00005
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 0.00005
NM_000158.4(GBE1):c.1011C>T (p.Phe337=) rs916259056 0.00004
NM_000158.4(GBE1):c.1168T>A (p.Leu390Met) rs199821084 0.00004
NM_000158.4(GBE1):c.1209G>A (p.Leu403=) rs763217252 0.00004
NM_000158.4(GBE1):c.1270A>G (p.Ile424Val) rs773950053 0.00004
NM_000158.4(GBE1):c.1672G>A (p.Glu558Lys) rs765212625 0.00004
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) rs772802187 0.00004
NM_000158.4(GBE1):c.1932G>A (p.Gly644=) rs544906178 0.00004
NM_000158.4(GBE1):c.2088G>A (p.Gln696=) rs577633008 0.00004
NM_000158.4(GBE1):c.231C>T (p.Gly77=) rs375359843 0.00004
NM_000158.4(GBE1):c.23C>T (p.Ala8Val) rs759518868 0.00004
NM_000158.4(GBE1):c.626A>G (p.His209Arg) rs542346749 0.00004
NM_000158.4(GBE1):c.669A>G (p.Val223=) rs1014444694 0.00004
NM_000158.4(GBE1):c.70del (p.Asp24fs) rs1407149518 0.00004
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750 0.00004
NM_000158.4(GBE1):c.993-20A>G rs534036934 0.00004
NM_000158.4(GBE1):c.1038G>A (p.Leu346=) rs772442784 0.00003
NM_000158.4(GBE1):c.143+6G>A rs371048718 0.00003
NM_000158.4(GBE1):c.143+8C>G rs750447886 0.00003
NM_000158.4(GBE1):c.153G>C (p.Gln51His) rs760281369 0.00003
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln) rs80338673 0.00003
NM_000158.4(GBE1):c.1804-20_1804-19del rs776287786 0.00003
NM_000158.4(GBE1):c.195T>C (p.Gly65=) rs1399020199 0.00003
NM_000158.4(GBE1):c.20C>T (p.Pro7Leu) rs765422566 0.00003
NM_000158.4(GBE1):c.293T>G (p.Val98Gly) rs775486403 0.00003
NM_000158.4(GBE1):c.43G>A (p.Glu15Lys) rs774709930 0.00003
NM_000158.4(GBE1):c.450C>T (p.Ser150=) rs766421967 0.00003
NM_000158.4(GBE1):c.501A>G (p.Glu167=) rs778442735 0.00003
NM_000158.4(GBE1):c.583C>T (p.Arg195Trp) rs371086146 0.00003
NM_000158.4(GBE1):c.708G>C (p.Gln236His) rs137852892 0.00003
NM_000158.4(GBE1):c.1200T>C (p.Val400=) rs1464112150 0.00002
NM_000158.4(GBE1):c.1204A>G (p.Thr402Ala) rs757297254 0.00002
NM_000158.4(GBE1):c.1215C>T (p.Pro405=) rs373029683 0.00002
NM_000158.4(GBE1):c.1222A>G (p.Ile408Val) rs760095778 0.00002
NM_000158.4(GBE1):c.1446+15G>T rs752305746 0.00002
NM_000158.4(GBE1):c.1468del (p.Leu490fs) rs774465102 0.00002
NM_000158.4(GBE1):c.1726C>T (p.Arg576Cys) rs183019204 0.00002
NM_000158.4(GBE1):c.1781A>G (p.Tyr594Cys) rs370246900 0.00002
NM_000158.4(GBE1):c.1888A>G (p.Ser630Gly) rs758683393 0.00002
NM_000158.4(GBE1):c.1964C>T (p.Ala655Val) rs377105672 0.00002
NM_000158.4(GBE1):c.279G>A (p.Pro93=) rs76807363 0.00002
NM_000158.4(GBE1):c.292G>C (p.Val98Leu) rs762945205 0.00002
NM_000158.4(GBE1):c.460T>C (p.Leu154=) rs1250639043 0.00002
NM_000158.4(GBE1):c.477G>A (p.Pro159=) rs369676236 0.00002
NM_000158.4(GBE1):c.535G>A (p.Asp179Asn) rs758425725 0.00002
NM_000158.4(GBE1):c.556-6C>T rs754051144 0.00002
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) rs137852886 0.00002
NM_000158.4(GBE1):c.987C>T (p.Tyr329=) rs573055138 0.00002
NM_000158.4(GBE1):c.102C>T (p.Ile34=) rs764543442 0.00001
NM_000158.4(GBE1):c.105C>T (p.Asp35=) rs1559712501 0.00001
NM_000158.4(GBE1):c.1063C>T (p.Arg355Cys) rs780431086 0.00001
NM_000158.4(GBE1):c.1064G>A (p.Arg355His) rs869312919 0.00001
NM_000158.4(GBE1):c.1083C>T (p.Ser361=) rs377496485 0.00001
NM_000158.4(GBE1):c.1108+8A>T rs961583898 0.00001
NM_000158.4(GBE1):c.1110T>C (p.Gly370=) rs770335349 0.00001
NM_000158.4(GBE1):c.112T>C (p.Leu38=) rs1050660548 0.00001
NM_000158.4(GBE1):c.1143C>T (p.Phe381=) rs1385414901 0.00001
NM_000158.4(GBE1):c.114G>A (p.Leu38=) rs932010631 0.00001
NM_000158.4(GBE1):c.1205C>T (p.Thr402Met) rs751619568 0.00001
NM_000158.4(GBE1):c.1206G>A (p.Thr402=) rs764245033 0.00001
NM_000158.4(GBE1):c.1239del (p.Asp413fs) rs758504480 0.00001
NM_000158.4(GBE1):c.1242A>G (p.Val414=) rs543823734 0.00001
NM_000158.4(GBE1):c.12G>A (p.Pro4=) rs781086301 0.00001
NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter) rs781198373 0.00001
NM_000158.4(GBE1):c.1302A>G (p.Arg434=) rs532448572 0.00001
NM_000158.4(GBE1):c.1335+9C>G rs754084067 0.00001
NM_000158.4(GBE1):c.1336-10T>G rs749266678 0.00001
NM_000158.4(GBE1):c.143+9G>A rs1267149365 0.00001
NM_000158.4(GBE1):c.1434G>A (p.Glu478=) rs561832348 0.00001
NM_000158.4(GBE1):c.1446+18T>C rs1013562114 0.00001
NM_000158.4(GBE1):c.1446+7G>T rs1181307533 0.00001
NM_000158.4(GBE1):c.1473A>G (p.Ala491=) rs748594311 0.00001
NM_000158.4(GBE1):c.1491C>T (p.Ala497=) rs778539439 0.00001
NM_000158.4(GBE1):c.1512T>C (p.Ser504=) rs779711697 0.00001
NM_000158.4(GBE1):c.1572A>G (p.Arg524=) rs779517065 0.00001
NM_000158.4(GBE1):c.1581G>A (p.Thr527=) rs140571802 0.00001
NM_000158.4(GBE1):c.1587G>A (p.Gly529=) rs1324484445 0.00001
NM_000158.4(GBE1):c.1604A>G (p.Tyr535Cys) rs886058900 0.00001
NM_000158.4(GBE1):c.1618+4A>G rs763962659 0.00001
NM_000158.4(GBE1):c.1619-16G>A rs546023161 0.00001
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp) rs1703086906 0.00001
NM_000158.4(GBE1):c.1635T>C (p.His545=) rs780741533 0.00001
NM_000158.4(GBE1):c.1647A>C (p.Leu549Phe) rs544404712 0.00001
NM_000158.4(GBE1):c.1655C>T (p.Pro552Leu) rs777589783 0.00001
NM_000158.4(GBE1):c.1662A>G (p.Lys554=) rs752672762 0.00001
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) rs552094593 0.00001
NM_000158.4(GBE1):c.169A>G (p.Lys57Glu) rs772910188 0.00001
NM_000158.4(GBE1):c.1719C>T (p.Asp573=) rs922718313 0.00001
NM_000158.4(GBE1):c.1791T>C (p.Leu597=) rs968014009 0.00001
NM_000158.4(GBE1):c.1803+2T>C rs539203557 0.00001
NM_000158.4(GBE1):c.1804-20A>G rs751552216 0.00001
NM_000158.4(GBE1):c.1809C>T (p.Tyr603=) rs765577833 0.00001
NM_000158.4(GBE1):c.1810G>A (p.Val604Met) rs760015364 0.00001
NM_000158.4(GBE1):c.1823_1824del (p.His608fs) rs1175447973 0.00001
NM_000158.4(GBE1):c.1860T>C (p.Gly620=) rs1473296120 0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891 0.00001
NM_000158.4(GBE1):c.1909C>T (p.Arg637Ter) rs766935302 0.00001
NM_000158.4(GBE1):c.1935-7G>T rs1474858058 0.00001
NM_000158.4(GBE1):c.1960G>A (p.Ala654Thr) rs527789602 0.00001
NM_000158.4(GBE1):c.1977G>A (p.Gly659=) rs764925200 0.00001
NM_000158.4(GBE1):c.1989G>A (p.Leu663=) rs774275405 0.00001
NM_000158.4(GBE1):c.2001T>A (p.Thr667=) rs1250842116 0.00001
NM_000158.4(GBE1):c.200A>G (p.Asp67Gly) rs368256869 0.00001
NM_000158.4(GBE1):c.2016G>A (p.Glu672=) rs571448518 0.00001
NM_000158.4(GBE1):c.2052+2T>C rs375596642 0.00001
NM_000158.4(GBE1):c.2053-10T>G rs1576117487 0.00001
NM_000158.4(GBE1):c.2080A>G (p.Ile694Val) rs1257283055 0.00001
NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn) rs1209123501 0.00001
NM_000158.4(GBE1):c.2093T>C (p.Val698Ala) rs1195429833 0.00001
NM_000158.4(GBE1):c.2103G>A (p.Pro701=) rs775617188 0.00001
NM_000158.4(GBE1):c.2107T>G (p.Ter703Gly) rs1400238963 0.00001
NM_000158.4(GBE1):c.213A>C (p.Arg71Ser) rs755590449 0.00001
NM_000158.4(GBE1):c.287A>G (p.Glu96Gly) rs1705760375 0.00001
NM_000158.4(GBE1):c.313+9T>C rs772444966 0.00001
NM_000158.4(GBE1):c.327A>G (p.Pro109=) rs1200105843 0.00001
NM_000158.4(GBE1):c.351G>T (p.Leu117=) rs749666538 0.00001
NM_000158.4(GBE1):c.370C>T (p.Leu124=) rs1383085103 0.00001
NM_000158.4(GBE1):c.42C>G (p.Tyr14Ter) rs1328296506 0.00001
NM_000158.4(GBE1):c.453A>G (p.Gly151=) rs751739447 0.00001
NM_000158.4(GBE1):c.466C>T (p.Arg156Cys) rs763302311 0.00001
NM_000158.4(GBE1):c.483A>C (p.Ala161=) rs1054018717 0.00001
NM_000158.4(GBE1):c.488A>G (p.Tyr163Cys) rs771447249 0.00001
NM_000158.4(GBE1):c.492G>A (p.Val164=) rs1375785515 0.00001
NM_000158.4(GBE1):c.548C>T (p.Ser183Leu) rs1327623597 0.00001
NM_000158.4(GBE1):c.555+7A>G rs766695292 0.00001
NM_000158.4(GBE1):c.576G>A (p.Lys192=) rs762329960 0.00001
NM_000158.4(GBE1):c.609T>C (p.His203=) rs1202435927 0.00001
NM_000158.4(GBE1):c.648T>C (p.Tyr216=) rs1295929595 0.00001
NM_000158.4(GBE1):c.64C>T (p.Leu22=) rs756999152 0.00001
NM_000158.4(GBE1):c.660A>G (p.Thr220=) rs527746026 0.00001
NM_000158.4(GBE1):c.692-6A>G rs757655010 0.00001
NM_000158.4(GBE1):c.709T>C (p.Leu237=) rs886038263 0.00001
NM_000158.4(GBE1):c.721A>G (p.Met241Val) rs747155575 0.00001
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) rs137852887 0.00001
NM_000158.4(GBE1):c.783-8A>G rs1019962210 0.00001
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys) rs137852893 0.00001
NM_000158.4(GBE1):c.808C>T (p.Gln270Ter) rs559653237 0.00001
NM_000158.4(GBE1):c.88A>G (p.Arg30Gly) rs1236771685 0.00001
NM_000158.4(GBE1):c.895G>T (p.Gly299Ter) rs779475367 0.00001
NM_000158.4(GBE1):c.91C>T (p.Leu31Phe) rs539925873 0.00001
NM_000158.4(GBE1):c.924C>T (p.Ser308=) rs765783805 0.00001
NM_000158.4(GBE1):c.955C>T (p.His319Tyr) rs767100121 0.00001
NM_000158.4(GBE1):c.992+8C>T rs779096891 0.00001
NM_000158.4(GBE1):c.993-1G>T rs763016962 0.00001
NC_000003.11:g.(?_81539548)_(81699082_?)del
NC_000003.11:g.(?_81539548)_(81754774_?)del
NC_000003.11:g.(?_81539558)_(81754784_?)dup
NC_000003.11:g.(?_81539558)_(81810668_?)dup
NC_000003.11:g.(?_81548251)_(81548388_?)dup
NC_000003.11:g.(?_81584336)_(81584486_?)del
NC_000003.11:g.(?_81584336)_(81754774_?)del
NC_000003.11:g.(?_81584336)_(81810678_?)del
NC_000003.11:g.(?_81627056)_(81810688_?)del
NC_000003.11:g.(?_81627066)_(81643184_?)del
NC_000003.11:g.(?_81627066)_(81754774_?)del
NC_000003.11:g.(?_81640178)_(81643184_?)dup
NC_000003.11:g.(?_81691912)_(81810668_?)dup
NC_000003.11:g.(?_81691922)_(81699082_?)del
NC_000003.11:g.(?_81691922)_(81754774_?)del
NC_000003.11:g.(?_81695533)_(81695643_?)del
NC_000003.11:g.(?_81810516)_(81810678_?)del
NC_000003.12:g.(?_81490387)_(81705633_?)del
NC_000003.12:g.(?_81490387)_(81761537_?)del
NC_000003.12:g.(?_81490397)_(81490473_?)del
NC_000003.12:g.(?_81490397)_(81761527_?)del
NC_000003.12:g.(?_81499090)_(81761537_?)del
NC_000003.12:g.(?_81591027)_(81594033_?)del
NC_000003.12:g.(?_81642771)_(81643000_?)del
NC_000003.12:g.(?_81642771)_(81670963_?)del
NC_000003.12:g.(?_81646382)_(81670963_?)del
NC_000003.12:g.(?_81761375)_(81761517_?)del
NC_000003.12:g.81594024_81594025insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATTCCCAGC
NM_000158.4(GBE1):c.1000= (p.Ile334=)
NM_000158.4(GBE1):c.1005A>G (p.Leu335=) rs1703918962
NM_000158.4(GBE1):c.1010T>A (p.Phe337Tyr)
NM_000158.4(GBE1):c.1015C>T (p.Leu339=)
NM_000158.4(GBE1):c.1023C>T (p.Asn341=) rs2106957100
NM_000158.4(GBE1):c.1026A>C (p.Ile342=)
NM_000158.4(GBE1):c.1027A>G (p.Arg343Gly)
NM_000158.4(GBE1):c.1031G>A (p.Trp344Ter) rs773381709
NM_000158.4(GBE1):c.1031G>T (p.Trp344Leu) rs773381709
NM_000158.4(GBE1):c.1032G>A (p.Trp344Ter) rs2106957076
NM_000158.4(GBE1):c.1034G>A (p.Trp345Ter)
NM_000158.4(GBE1):c.1044A>G (p.Glu348=) rs1482348006
NM_000158.4(GBE1):c.1048C>T (p.Arg350Cys)
NM_000158.4(GBE1):c.1053del (p.Phe351fs)
NM_000158.4(GBE1):c.1068T>C (p.Phe356=)
NM_000158.4(GBE1):c.1074T>C (p.Gly358=) rs2106956989
NM_000158.4(GBE1):c.1077T>C (p.Val359=)
NM_000158.4(GBE1):c.107C>A (p.Pro36Gln)
NM_000158.4(GBE1):c.1088T>C (p.Leu363Pro) rs965176553
NM_000158.4(GBE1):c.108G>C (p.Pro36=)
NM_000158.4(GBE1):c.1098C>T (p.His366=)
NM_000158.4(GBE1):c.1098_1099insGTGA (p.His367fs)
NM_000158.4(GBE1):c.1108+10C>T
NM_000158.4(GBE1):c.1108+18A>G
NM_000158.4(GBE1):c.1108+2T>C
NM_000158.4(GBE1):c.1108+7A>G
NM_000158.4(GBE1):c.1108+8del rs2106956909
NM_000158.4(GBE1):c.1108+9C>T
NM_000158.4(GBE1):c.1109-13_1109-12del
NM_000158.4(GBE1):c.1109-1G>A rs763258786
NM_000158.4(GBE1):c.1109-20A>T
NM_000158.4(GBE1):c.1109-2A>G
NM_000158.4(GBE1):c.1109-5del
NM_000158.4(GBE1):c.1109-6del rs747483974
NM_000158.4(GBE1):c.1109G>A (p.Gly370Asp)
NM_000158.4(GBE1):c.1112A>G (p.Gln371Arg)
NM_000158.4(GBE1):c.1115del (p.Gly372fs)
NM_000158.4(GBE1):c.111C>T (p.Tyr37=)
NM_000158.4(GBE1):c.1126_1127insCGGGAGAAGTAGATTGAAGCCAGTTGATTAGGGTGCTTAGC (p.Asp376delinsAlaGlyGluValAspTer)
NM_000158.4(GBE1):c.1134T>C (p.Ser378=) rs36099971
NM_000158.4(GBE1):c.1144G>A (p.Gly382Arg)
NM_000158.4(GBE1):c.1146A>G (p.Gly382=) rs2106952374
NM_000158.4(GBE1):c.1148T>A (p.Leu383Gln) rs777291512
NM_000158.4(GBE1):c.1148T>C (p.Leu383Pro)
NM_000158.4(GBE1):c.1152A>G (p.Gln384=)
NM_000158.4(GBE1):c.1155A>G (p.Val385=)
NM_000158.4(GBE1):c.1161A>G (p.Glu387=) rs1161376545
NM_000158.4(GBE1):c.1167C>T (p.Ala389=) rs2106952325
NM_000158.4(GBE1):c.1168T>C (p.Leu390=)
NM_000158.4(GBE1):c.1169del (p.Ala389_Leu390insTer)
NM_000158.4(GBE1):c.1173T>G (p.Thr391=) rs1703871884
NM_000158.4(GBE1):c.1179C>G (p.Leu393=) rs1703871746
NM_000158.4(GBE1):c.1179C>T (p.Leu393=)
NM_000158.4(GBE1):c.117G>A (p.Lys39=) rs769399819
NM_000158.4(GBE1):c.1183T>C (p.Leu395=) rs1269189934
NM_000158.4(GBE1):c.1183T>G (p.Leu395Val) rs1269189934
NM_000158.4(GBE1):c.1188A>C (p.Ala396=)
NM_000158.4(GBE1):c.1202A>G (p.His401Arg)
NM_000158.4(GBE1):c.1203C>T (p.His401=)
NM_000158.4(GBE1):c.1215C>G (p.Pro405=)
NM_000158.4(GBE1):c.1227A>G (p.Thr409=)
NM_000158.4(GBE1):c.1236+10T>C rs2106952130
NM_000158.4(GBE1):c.1236+11A>G
NM_000158.4(GBE1):c.1236+14G>A
NM_000158.4(GBE1):c.1236+18T>C
NM_000158.4(GBE1):c.1236+1G>A
NM_000158.4(GBE1):c.1236+9A>G
NM_000158.4(GBE1):c.1237-14G>A rs745815258
NM_000158.4(GBE1):c.1237-16A>G
NM_000158.4(GBE1):c.1237-17G>A
NM_000158.4(GBE1):c.1237-17G>C
NM_000158.4(GBE1):c.1237-18C>G
NM_000158.4(GBE1):c.1237-19C>A
NM_000158.4(GBE1):c.1237-19C>G
NM_000158.4(GBE1):c.1237-5dup rs2106945329
NM_000158.4(GBE1):c.1237-7G>T
NM_000158.4(GBE1):c.123C>T (p.Tyr41=)
NM_000158.4(GBE1):c.1242A>T (p.Val414=)
NM_000158.4(GBE1):c.1245A>G (p.Ser415=)
NM_000158.4(GBE1):c.1245_1258del (p.Gly416fs) rs1703800818
NM_000158.4(GBE1):c.1260G>C (p.Leu420=) rs1703800789
NM_000158.4(GBE1):c.1264T>A (p.Ser422Thr) rs2106945255
NM_000158.4(GBE1):c.1269A>G (p.Pro423=)
NM_000158.4(GBE1):c.126C>T (p.Ala42=)
NM_000158.4(GBE1):c.1281del (p.Gly429fs)
NM_000158.4(GBE1):c.1283G>A (p.Gly428Glu)
NM_000158.4(GBE1):c.1284G>A (p.Gly428=) rs1042856824
NM_000158.4(GBE1):c.1284G>T (p.Gly428=)
NM_000158.4(GBE1):c.1285G>A (p.Gly429Ser)
NM_000158.4(GBE1):c.129G>T (p.Val43=)
NM_000158.4(GBE1):c.12G>C (p.Pro4=) rs781086301
NM_000158.4(GBE1):c.1309A>G (p.Met437Val) rs1288041902
NM_000158.4(GBE1):c.1314A>G (p.Ala438=)
NM_000158.4(GBE1):c.1315A>G (p.Ile439Val) rs1357214851
NM_000158.4(GBE1):c.1322A>G (p.Asp441Gly) rs1703799830
NM_000158.4(GBE1):c.1333C>T (p.Gln445Ter) rs1703799803
NM_000158.4(GBE1):c.1335+10C>T
NM_000158.4(GBE1):c.1335+11A>G
NM_000158.4(GBE1):c.1335+11A>T
NM_000158.4(GBE1):c.1335+12T>C
NM_000158.4(GBE1):c.1335+14T>G
NM_000158.4(GBE1):c.1335+15A>G
NM_000158.4(GBE1):c.1335+17A>C
NM_000158.4(GBE1):c.1335+3A>C
NM_000158.4(GBE1):c.1336-10_1336-9del
NM_000158.4(GBE1):c.1336-11C>A
NM_000158.4(GBE1):c.1336-13C>G
NM_000158.4(GBE1):c.1336-13C>T
NM_000158.4(GBE1):c.1336-19T>C
NM_000158.4(GBE1):c.1336-1G>A rs375253942
NM_000158.4(GBE1):c.1336-4C>T
NM_000158.4(GBE1):c.1336-5T>G
NM_000158.4(GBE1):c.1336-6G>A
NM_000158.4(GBE1):c.1336-7T>G
NM_000158.4(GBE1):c.1336-7dup
NM_000158.4(GBE1):c.1336-9T>C
NM_000158.4(GBE1):c.1343_1344del (p.Lys448fs) rs2106938660
NM_000158.4(GBE1):c.1344A>G (p.Lys448=) rs2106938657
NM_000158.4(GBE1):c.135C>T (p.Phe45=) rs777583603
NM_000158.4(GBE1):c.1362C>T (p.Asp454=) rs2106938627
NM_000158.4(GBE1):c.1368C>G (p.Asn456Lys) rs2106938616
NM_000158.4(GBE1):c.136C>T (p.Gln46Ter)
NM_000158.4(GBE1):c.1373del (p.Gly458fs)
NM_000158.4(GBE1):c.1374C>A (p.Gly458=)
NM_000158.4(GBE1):c.1374C>T (p.Gly458=) rs781667161
NM_000158.4(GBE1):c.1375G>A (p.Asp459Asn) rs752100789
NM_000158.4(GBE1):c.1379del (p.Ile460fs)
NM_000158.4(GBE1):c.1383A>G (p.Val461=) rs2106938571
NM_000158.4(GBE1):c.1386C>G (p.Tyr462Ter) rs1703726090
NM_000158.4(GBE1):c.1388C>T (p.Thr463Met)
NM_000158.4(GBE1):c.1395A>G (p.Thr465=)
NM_000158.4(GBE1):c.1402C>A (p.Arg468Ser) rs776526697
NM_000158.4(GBE1):c.1403G>A (p.Arg468His)
NM_000158.4(GBE1):c.1403del (p.Arg468fs) rs2106938514
NM_000158.4(GBE1):c.1407C>T (p.Tyr469=)
NM_000158.4(GBE1):c.1410T>G (p.Leu470=)
NM_000158.4(GBE1):c.1413A>G (p.Glu471=) rs2106938489
NM_000158.4(GBE1):c.1416G>A (p.Lys472=)
NM_000158.4(GBE1):c.1422T>C (p.Ile474=)
NM_000158.4(GBE1):c.143+14C>T
NM_000158.4(GBE1):c.143+16C>T
NM_000158.4(GBE1):c.143+18C>G
NM_000158.4(GBE1):c.143+19C>A
NM_000158.4(GBE1):c.143+1G>A rs397515343
NM_000158.4(GBE1):c.143+20A>G
NM_000158.4(GBE1):c.143+2T>C rs2107250439
NM_000158.4(GBE1):c.143+8C>T rs750447886
NM_000158.4(GBE1):c.1431A>G (p.Ala477=)
NM_000158.4(GBE1):c.1437C>T (p.Ser479=)
NM_000158.4(GBE1):c.144-12A>T
NM_000158.4(GBE1):c.144-15C>T
NM_000158.4(GBE1):c.144-1G>C
NM_000158.4(GBE1):c.1446+12T>C
NM_000158.4(GBE1):c.1446+20A>C
NM_000158.4(GBE1):c.1446+9A>C
NM_000158.4(GBE1):c.1447-15C>T
NM_000158.4(GBE1):c.1447-16A>G
NM_000158.4(GBE1):c.1447-19A>G
NM_000158.4(GBE1):c.1447-4G>A
NM_000158.4(GBE1):c.1447-4G>C rs534847659
NM_000158.4(GBE1):c.1449A>T (p.Ala483=) rs2106934011
NM_000158.4(GBE1):c.1458G>A (p.Gly486=)
NM_000158.4(GBE1):c.1464G>A (p.Lys488=)
NM_000158.4(GBE1):c.1466C>T (p.Ser489Leu)
NM_000158.4(GBE1):c.1467G>A (p.Ser489=) rs1350341668
NM_000158.4(GBE1):c.146A>G (p.Tyr49Cys)
NM_000158.4(GBE1):c.1470G>A (p.Leu490=) rs2106933948
NM_000158.4(GBE1):c.1471G>A (p.Ala491Thr) rs772670028
NM_000158.4(GBE1):c.1479G>A (p.Trp493Ter) rs1703673227
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr) rs1456579860
NM_000158.4(GBE1):c.1491C>A (p.Ala497=)
NM_000158.4(GBE1):c.1491C>G (p.Ala497=) rs778539439
NM_000158.4(GBE1):c.1494A>G (p.Glu498=) rs2106933905
NM_000158.4(GBE1):c.149del (p.Lys50fs) rs2107169014
NM_000158.4(GBE1):c.1528A>T (p.Thr510Ser) rs751466558
NM_000158.4(GBE1):c.1534G>C (p.Val512Leu)
NM_000158.4(GBE1):c.1538_1563del (p.Ile513fs)
NM_000158.4(GBE1):c.153G>A (p.Gln51=)
NM_000158.4(GBE1):c.1542T>C (p.Asp514=)
NM_000158.4(GBE1):c.1543C>G (p.Arg515Gly)
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) rs80338672
NM_000158.4(GBE1):c.1545T>C (p.Arg515=)
NM_000158.4(GBE1):c.1548A>T (p.Gly516=)
NM_000158.4(GBE1):c.1554G>A (p.Gln518=)
NM_000158.4(GBE1):c.1561A>T (p.Lys521Ter) rs773775991
NM_000158.4(GBE1):c.1563A>C (p.Lys521Asn)
NM_000158.4(GBE1):c.1569T>C (p.Ile523=) rs1559650639
NM_000158.4(GBE1):c.1569del (p.Arg524fs)
NM_000158.4(GBE1):c.1570C>A (p.Arg524=)
NM_000158.4(GBE1):c.1570C>G (p.Arg524Gly) rs137852888
NM_000158.4(GBE1):c.1581G>T (p.Thr527=)
NM_000158.4(GBE1):c.1584T>C (p.His528=) rs756678628
NM_000158.4(GBE1):c.1592G>A (p.Gly531Asp) rs2106933633
NM_000158.4(GBE1):c.159C>A (p.Ser53Arg)
NM_000158.4(GBE1):c.159C>T (p.Ser53=) rs1245333229
NM_000158.4(GBE1):c.1605T>A (p.Tyr535Ter)
NM_000158.4(GBE1):c.1608C>T (p.Leu536=)
NM_000158.4(GBE1):c.1615A>T (p.Met539Leu)
NM_000158.4(GBE1):c.1618+16A>T
NM_000158.4(GBE1):c.1618+1G>A rs1703670302
NM_000158.4(GBE1):c.1618+20A>G
NM_000158.4(GBE1):c.1618+3_1618+6del
NM_000158.4(GBE1):c.1619-18A>C
NM_000158.4(GBE1):c.1619-18A>G
NM_000158.4(GBE1):c.1619-1G>A rs2106872434
NM_000158.4(GBE1):c.1619-3C>T
NM_000158.4(GBE1):c.1619-4_1619-3insGAATTTGG
NM_000158.4(GBE1):c.1622A>G (p.Asn541Ser)
NM_000158.4(GBE1):c.162A>C (p.Gln54His)
NM_000158.4(GBE1):c.1632G>C (p.Gly544=)
NM_000158.4(GBE1):c.1634A>G (p.His545Arg) rs137852889
NM_000158.4(GBE1):c.1638T>C (p.Pro546=) rs2106872406
NM_000158.4(GBE1):c.1650C>T (p.Asp550=) rs1281489436
NM_000158.4(GBE1):c.1656A>C (p.Pro552=) rs1340229013
NM_000158.4(GBE1):c.1666A>G (p.Asn556Asp)
NM_000158.4(GBE1):c.166T>C (p.Leu56=)
NM_000158.4(GBE1):c.1675_1676dup (p.Ser559fs) rs1412857849
NM_000158.4(GBE1):c.1677T>C (p.Ser559=)
NM_000158.4(GBE1):c.167del (p.Ile55_Leu56insTer)
NM_000158.4(GBE1):c.1680C>G (p.Tyr560Ter)
NM_000158.4(GBE1):c.1693C>A (p.Arg565=)
NM_000158.4(GBE1):c.1698G>A (p.Gln566=)
NM_000158.4(GBE1):c.169A>T (p.Lys57Ter)
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer) rs1367364158
NM_000158.4(GBE1):c.170A>G (p.Lys57Arg) rs544821452
NM_000158.4(GBE1):c.1710T>G (p.Thr570=) rs2106872244
NM_000158.4(GBE1):c.1712A>T (p.Asp571Val)
NM_000158.4(GBE1):c.1720C>T (p.Leu574Phe) rs2106872197
NM_000158.4(GBE1):c.1725T>C (p.Leu575=)
NM_000158.4(GBE1):c.1727G>A (p.Arg576His)
NM_000158.4(GBE1):c.1728C>G (p.Arg576=)
NM_000158.4(GBE1):c.172_173del (p.Asn58fs)
NM_000158.4(GBE1):c.1731C>T (p.Tyr577=)
NM_000158.4(GBE1):c.1734G>A (p.Lys578=)
NM_000158.4(GBE1):c.1743del (p.Asn581fs)
NM_000158.4(GBE1):c.1757A>G (p.Asp586Gly)
NM_000158.4(GBE1):c.1759A>G (p.Met587Val)
NM_000158.4(GBE1):c.1768T>C (p.Leu590=) rs1033042780
NM_000158.4(GBE1):c.1770G>A (p.Leu590=) rs1703083660
NM_000158.4(GBE1):c.1771G>A (p.Glu591Lys)
NM_000158.4(GBE1):c.1773A>G (p.Glu591=)
NM_000158.4(GBE1):c.1782T>C (p.Tyr594=) rs2106872059
NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter) rs201029706
NM_000158.4(GBE1):c.1799_1803+8del
NM_000158.4(GBE1):c.1803+11C>T
NM_000158.4(GBE1):c.1803+17G>A
NM_000158.4(GBE1):c.1803+17G>T
NM_000158.4(GBE1):c.1803+18G>A
NM_000158.4(GBE1):c.1803+19A>T
NM_000158.4(GBE1):c.1803+1G>A rs1273791312
NM_000158.4(GBE1):c.1803+5G>T
NM_000158.4(GBE1):c.1804-13C>T
NM_000158.4(GBE1):c.1804-16G>A
NM_000158.4(GBE1):c.1804-16G>C
NM_000158.4(GBE1):c.1804-2A>T rs1224090803
NM_000158.4(GBE1):c.1804-6T>G rs753097564
NM_000158.4(GBE1):c.1806C>A (p.Ala602=) rs1343991404
NM_000158.4(GBE1):c.180A>C (p.Gly60=)
NM_000158.4(GBE1):c.1814G>A (p.Ser605Asn)
NM_000158.4(GBE1):c.1821A>G (p.Lys607=) rs2106869704
NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter) rs772802187
NM_000158.4(GBE1):c.1831A>C (p.Asn611His) rs2106869674
NM_000158.4(GBE1):c.1836G>A (p.Lys612=)
NM_000158.4(GBE1):c.1839C>T (p.Ile613=) rs535185036
NM_000158.4(GBE1):c.1842T>A (p.Ile614=) rs774354874
NM_000158.4(GBE1):c.1844C>A (p.Ala615Asp)
NM_000158.4(GBE1):c.1848T>G (p.Phe616Leu)
NM_000158.4(GBE1):c.1854del (p.Ala619fs)
NM_000158.4(GBE1):c.1861_1875CTT[2]TTCATTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTCTTTTCATTTTC[1] (p.Asn626delinsPhePhePhePhePhePheXaaXaaXaaXaaCysTer) rs2106869587
NM_000158.4(GBE1):c.1878C>T (p.Asn626=)
NM_000158.4(GBE1):c.1893G>A (p.Lys631=)
NM_000158.4(GBE1):c.18T>A (p.Thr6=) rs2107250932
NM_000158.4(GBE1):c.18T>C (p.Thr6=) rs2107250932
NM_000158.4(GBE1):c.1902T>C (p.Thr634=) rs754115580
NM_000158.4(GBE1):c.1910G>A (p.Arg637Gln)
NM_000158.4(GBE1):c.1917A>G (p.Gly639=) rs2106869498
NM_000158.4(GBE1):c.1929A>G (p.Pro643=)
NM_000158.4(GBE1):c.1934+12G>C
NM_000158.4(GBE1):c.1934+2T>A rs752625236
NM_000158.4(GBE1):c.1934+2T>C
NM_000158.4(GBE1):c.1935-10A>G rs755109777
NM_000158.4(GBE1):c.1935-14C>T
NM_000158.4(GBE1):c.1935-1C>T rs1475447884
NM_000158.4(GBE1):c.1935-2A>G
NM_000158.4(GBE1):c.1935-2del rs2106810015
NM_000158.4(GBE1):c.1935-7G>C rs1474858058
NM_000158.4(GBE1):c.193G>A (p.Gly65Ser)
NM_000158.4(GBE1):c.1941A>G (p.Lys647=) rs1039372291
NM_000158.4(GBE1):c.1950A>G (p.Leu650=) rs2106809976
NM_000158.4(GBE1):c.1961_1962del (p.Ala654fs) rs2106809957
NM_000158.4(GBE1):c.1962A>G (p.Ala654=)
NM_000158.4(GBE1):c.1970A>G (p.Tyr657Cys)
NM_000158.4(GBE1):c.1980T>C (p.His660=)
NM_000158.4(GBE1):c.1986A>G (p.Arg662=) rs2106809904
NM_000158.4(GBE1):c.1989G>T (p.Leu663=)
NM_000158.4(GBE1):c.1992C>T (p.Asp664=) rs780527478
NM_000158.4(GBE1):c.19C>T (p.Pro7Ser) rs1401990930
NM_000158.4(GBE1):c.1_18dup (p.Thr6_Pro7insMetAlaAlaProMetThr)
NM_000158.4(GBE1):c.2004C>T (p.Asp668=) rs757815784
NM_000158.4(GBE1):c.2010T>G (p.Phe670Leu) rs2106809858
NM_000158.4(GBE1):c.2011del (p.Ser671fs)
NM_000158.4(GBE1):c.2028T>C (p.His676=) rs2106809824
NM_000158.4(GBE1):c.202_203del (p.Lys68fs) rs1705761854
NM_000158.4(GBE1):c.2040C>T (p.Pro680=)
NM_000158.4(GBE1):c.2052+19A>G
NM_000158.4(GBE1):c.2052+1G>A rs2106809795
NM_000158.4(GBE1):c.2052+1G>T rs2106809795
NM_000158.4(GBE1):c.2052+20T>A
NM_000158.4(GBE1):c.2052+20T>C
NM_000158.4(GBE1):c.2053-19C>T
NM_000158.4(GBE1):c.2053-3350G>C
NM_000158.4(GBE1):c.2053-3351G>A rs2106802092
NM_000158.4(GBE1):c.2053-3354G>T
NM_000158.4(GBE1):c.2053-3358G>T rs1702468173
NM_000158.4(GBE1):c.2053-4G>A rs185009612
NM_000158.4(GBE1):c.2053-4G>C rs185009612
NM_000158.4(GBE1):c.2053-4G>T rs185009612
NM_000158.4(GBE1):c.2053-5C>T
NM_000158.4(GBE1):c.2058C>T (p.Tyr686=) rs2106796993
NM_000158.4(GBE1):c.2067C>G (p.Ser689Arg)
NM_000158.4(GBE1):c.2067C>T (p.Ser689=) rs1173853844
NM_000158.4(GBE1):c.2073G>T (p.Val691=)
NM_000158.4(GBE1):c.2106T>C (p.Asn702=)
NM_000158.4(GBE1):c.211A>C (p.Arg71=) rs1576206635
NM_000158.4(GBE1):c.216del (p.Tyr73fs) rs2107168870
NM_000158.4(GBE1):c.227T>C (p.Phe76Ser) rs1267044758
NM_000158.4(GBE1):c.22G>A (p.Ala8Thr)
NM_000158.4(GBE1):c.22G>T (p.Ala8Ser) rs1297879927
NM_000158.4(GBE1):c.232G>A (p.Val78Ile)
NM_000158.4(GBE1):c.249T>C (p.Asp83=)
NM_000158.4(GBE1):c.259T>C (p.Tyr87His) rs1705760813
NM_000158.4(GBE1):c.261C>T (p.Tyr87=)
NM_000158.4(GBE1):c.26del (p.Ala9fs)
NM_000158.4(GBE1):c.270A>G (p.Glu90=) rs1576206589
NM_000158.4(GBE1):c.274del (p.Ala92fs)
NM_000158.4(GBE1):c.276C>T (p.Ala92=)
NM_000158.4(GBE1):c.283G>A (p.Ala95Thr)
NM_000158.4(GBE1):c.288del (p.Gly97fs) rs1057517315
NM_000158.4(GBE1):c.289G>A (p.Gly97Arg)
NM_000158.4(GBE1):c.303T>C (p.Thr101=) rs2107168711
NM_000158.4(GBE1):c.309T>C (p.Asp103=) rs2107168700
NM_000158.4(GBE1):c.313+10dup rs2107168668
NM_000158.4(GBE1):c.313+16_313+17dup
NM_000158.4(GBE1):c.313+17A>G
NM_000158.4(GBE1):c.313+17A>T
NM_000158.4(GBE1):c.313+18T>C
NM_000158.4(GBE1):c.313+20G>T
NM_000158.4(GBE1):c.313+8C>G rs773124221
NM_000158.4(GBE1):c.313+8C>T
NM_000158.4(GBE1):c.314-13T>C
NM_000158.4(GBE1):c.314-13_314-11del
NM_000158.4(GBE1):c.314-18T>C
NM_000158.4(GBE1):c.314-1G>C
NM_000158.4(GBE1):c.314-2A>G rs2107114825
NM_000158.4(GBE1):c.314-8T>A rs2107114832
NM_000158.4(GBE1):c.317del (p.Gly106fs) rs2107114812
NM_000158.4(GBE1):c.321G>A (p.Trp107Ter) rs2107114808
NM_000158.4(GBE1):c.333G>A (p.Ser111=) rs374518318
NM_000158.4(GBE1):c.333G>C (p.Ser111=) rs374518318
NM_000158.4(GBE1):c.333G>T (p.Ser111=) rs374518318
NM_000158.4(GBE1):c.336C>A (p.Tyr112Ter) rs773473771
NM_000158.4(GBE1):c.339A>C (p.Pro113=)
NM_000158.4(GBE1):c.339A>G (p.Pro113=) rs1375726428
NM_000158.4(GBE1):c.33C>G (p.Pro11=) rs773585404
NM_000158.4(GBE1):c.343A>G (p.Lys115Glu) rs1705180182
NM_000158.4(GBE1):c.348dup (p.Leu117fs)
NM_000158.4(GBE1):c.34G>T (p.Glu12Ter)
NM_000158.4(GBE1):c.351G>A (p.Leu117=) rs749666538
NM_000158.4(GBE1):c.367G>T (p.Glu123Ter)
NM_000158.4(GBE1):c.369G>A (p.Glu123=) rs2107114689
NM_000158.4(GBE1):c.36G>A (p.Glu12=) rs1024161275
NM_000158.4(GBE1):c.378C>T (p.Ile126=)
NM_000158.4(GBE1):c.387G>A (p.Lys129=)
NM_000158.4(GBE1):c.3G>C (p.Met1Ile)
NM_000158.4(GBE1):c.406G>A (p.Val136Met)
NM_000158.4(GBE1):c.429+12C>G
NM_000158.4(GBE1):c.429+12C>T
NM_000158.4(GBE1):c.429+13C>G
NM_000158.4(GBE1):c.429+18A>G
NM_000158.4(GBE1):c.429+8C>G
NM_000158.4(GBE1):c.429+9C>G
NM_000158.4(GBE1):c.429+9C>T
NM_000158.4(GBE1):c.429G>T (p.Lys143Asn)
NM_000158.4(GBE1):c.42C>T (p.Tyr14=) rs1328296506
NM_000158.4(GBE1):c.430-10C>T
NM_000158.4(GBE1):c.430-15T>C
NM_000158.4(GBE1):c.430-18A>G
NM_000158.4(GBE1):c.430-18A>T
NM_000158.4(GBE1):c.430-1G>C
NM_000158.4(GBE1):c.430-7T>C
NM_000158.4(GBE1):c.430-8C>T
NM_000158.4(GBE1):c.430-9T>C
NM_000158.4(GBE1):c.432A>G (p.Val144=) rs2107074991
NM_000158.4(GBE1):c.43G>T (p.Glu15Ter) rs774709930
NM_000158.4(GBE1):c.441T>C (p.Thr147=)
NM_000158.4(GBE1):c.451G>A (p.Gly151Arg)
NM_000158.4(GBE1):c.456G>A (p.Glu152=) rs1364827182
NM_000158.4(GBE1):c.465T>C (p.Tyr155=) rs2107074898
NM_000158.4(GBE1):c.466_470del (p.Arg156fs) rs2107074878
NM_000158.4(GBE1):c.477G>T (p.Pro159=)
NM_000158.4(GBE1):c.47del (p.Ala16fs) rs2107250805
NM_000158.4(GBE1):c.480G>A (p.Trp160Ter) rs776943352
NM_000158.4(GBE1):c.48G>A (p.Ala16=)
NM_000158.4(GBE1):c.497G>A (p.Arg166His)
NM_000158.4(GBE1):c.498T>C (p.Arg166=)
NM_000158.4(GBE1):c.505del (p.Asp169fs) rs1370223073
NM_000158.4(GBE1):c.521A>T (p.Asp174Val)
NM_000158.4(GBE1):c.522T>C (p.Asp174=)
NM_000158.4(GBE1):c.526A>T (p.Ile176Leu)
NM_000158.4(GBE1):c.534G>C (p.Trp178Cys)
NM_000158.4(GBE1):c.543A>G (p.Glu181=)
NM_000158.4(GBE1):c.549A>C (p.Ser183=) rs1489092127
NM_000158.4(GBE1):c.552T>C (p.Tyr184=) rs1576185089
NM_000158.4(GBE1):c.555+10A>G
NM_000158.4(GBE1):c.555+11_555+19dup
NM_000158.4(GBE1):c.555+12A>C
NM_000158.4(GBE1):c.555+14del rs573234623
NM_000158.4(GBE1):c.555+20A>G
NM_000158.4(GBE1):c.555+20A>T
NM_000158.4(GBE1):c.556-11A>T
NM_000158.4(GBE1):c.556-12T>C
NM_000158.4(GBE1):c.556-19A>G
NM_000158.4(GBE1):c.556-19A>T
NM_000158.4(GBE1):c.556-1G>A
NM_000158.4(GBE1):c.556-20C>T
NM_000158.4(GBE1):c.556-4G>A rs377175400
NM_000158.4(GBE1):c.556-8T>C
NM_000158.4(GBE1):c.556-9A>G rs756607435
NM_000158.4(GBE1):c.56A>G (p.Asn19Ser)
NM_000158.4(GBE1):c.573A>G (p.Pro191=) rs2107072385
NM_000158.4(GBE1):c.574A>C (p.Lys192Gln)
NM_000158.4(GBE1):c.585G>A (p.Arg195=)
NM_000158.4(GBE1):c.599A>G (p.Tyr200Cys)
NM_000158.4(GBE1):c.603A>G (p.Glu201=)
NM_000158.4(GBE1):c.608_609del (p.His203fs)
NM_000158.4(GBE1):c.60C>A (p.Ala20=) rs781174947
NM_000158.4(GBE1):c.610G>T (p.Val204Leu) rs2107072252
NM_000158.4(GBE1):c.612G>A (p.Val204=)
NM_000158.4(GBE1):c.627T>C (p.His209=) rs1704806575
NM_000158.4(GBE1):c.636A>G (p.Lys212=)
NM_000158.4(GBE1):c.639A>G (p.Val213=)
NM_000158.4(GBE1):c.63C>T (p.Ala21=) rs2107250762
NM_000158.4(GBE1):c.640G>T (p.Ala214Ser)
NM_000158.4(GBE1):c.646dup (p.Tyr216fs)
NM_000158.4(GBE1):c.648T>A (p.Tyr216Ter)
NM_000158.4(GBE1):c.651A>G (p.Lys217=) rs1704806079
NM_000158.4(GBE1):c.654T>C (p.His218=) rs753853692
NM_000158.4(GBE1):c.665A>G (p.Asn222Ser) rs1350258947
NM_000158.4(GBE1):c.666T>C (p.Asn222=)
NM_000158.4(GBE1):c.669A>T (p.Val223=)
NM_000158.4(GBE1):c.66G>A (p.Leu22=) rs2107250748
NM_000158.4(GBE1):c.672A>G (p.Leu224=)
NM_000158.4(GBE1):c.691+15_691+16del
NM_000158.4(GBE1):c.691+1G>A
NM_000158.4(GBE1):c.691+1G>T
NM_000158.4(GBE1):c.691+5G>C rs397515344
NM_000158.4(GBE1):c.691+8A>G
NM_000158.4(GBE1):c.692-10C>G rs2107066201
NM_000158.4(GBE1):c.692-17A>G
NM_000158.4(GBE1):c.692-1G>A
NM_000158.4(GBE1):c.692-9dup
NM_000158.4(GBE1):c.693A>G (p.Gly231=)
NM_000158.4(GBE1):c.697A>G (p.Asn233Asp)
NM_000158.4(GBE1):c.69T>C (p.Ala23=)
NM_000158.4(GBE1):c.6G>T (p.Ala2=)
NM_000158.4(GBE1):c.708G>A (p.Gln236=)
NM_000158.4(GBE1):c.713T>C (p.Met238Thr)
NM_000158.4(GBE1):c.718A>G (p.Ile240Val) rs868766244
NM_000158.4(GBE1):c.720C>T (p.Ile240=)
NM_000158.4(GBE1):c.72C>T (p.Asp24=)
NM_000158.4(GBE1):c.733T>C (p.Tyr245His) rs2107066005
NM_000158.4(GBE1):c.748G>T (p.Gly250Cys)
NM_000158.4(GBE1):c.757A>G (p.Ile253Val) rs2107065942
NM_000158.4(GBE1):c.75G>A (p.Val25=) rs1390802875
NM_000158.4(GBE1):c.762A>G (p.Thr254=)
NM_000158.4(GBE1):c.768C>T (p.Phe256=) rs1480699088
NM_000158.4(GBE1):c.774A>C (p.Ala258=)
NM_000158.4(GBE1):c.782+18T>C
NM_000158.4(GBE1):c.782+19T>C
NM_000158.4(GBE1):c.782+20G>A
NM_000158.4(GBE1):c.783-11T>C
NM_000158.4(GBE1):c.783-12C>T
NM_000158.4(GBE1):c.783-1G>A rs397515342
NM_000158.4(GBE1):c.783-7T>C rs528473675
NM_000158.4(GBE1):c.783-8A>C
NM_000158.4(GBE1):c.783C>A (p.Ser261Arg)
NM_000158.4(GBE1):c.783C>G (p.Ser261Arg) rs1559673607
NM_000158.4(GBE1):c.789T>C (p.Tyr263=) rs1559673593
NM_000158.4(GBE1):c.78C>G (p.Pro26=) rs1575782131
NM_000158.4(GBE1):c.78C>T (p.Pro26=) rs1575782131
NM_000158.4(GBE1):c.790G>A (p.Gly264Arg)
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu) rs754525424
NM_000158.4(GBE1):c.791G>C (p.Gly264Ala)
NM_000158.4(GBE1):c.792A>G (p.Gly264=) rs2107059886
NM_000158.4(GBE1):c.792A>T (p.Gly264=)
NM_000158.4(GBE1):c.793A>G (p.Thr265Ala)
NM_000158.4(GBE1):c.804G>A (p.Glu268=)
NM_000158.4(GBE1):c.805C>T (p.Leu269=)
NM_000158.4(GBE1):c.807A>G (p.Leu269=) rs760271506
NM_000158.4(GBE1):c.808C>A (p.Gln270Lys)
NM_000158.4(GBE1):c.809A>T (p.Gln270Leu)
NM_000158.4(GBE1):c.810A>G (p.Gln270=)
NM_000158.4(GBE1):c.810_811delinsTT (p.Gln270_Glu271delinsHisTer) rs2107059792
NM_000158.4(GBE1):c.811G>T (p.Glu271Ter)
NM_000158.4(GBE1):c.813A>G (p.Glu271=)
NM_000158.4(GBE1):c.814C>T (p.Leu272=) rs1217155813
NM_000158.4(GBE1):c.822C>T (p.Asp274=) rs2107059776
NM_000158.4(GBE1):c.825A>G (p.Thr275=)
NM_000158.4(GBE1):c.825A>T (p.Thr275=) rs2107059770
NM_000158.4(GBE1):c.826G>C (p.Ala276Pro) rs2107059765
NM_000158.4(GBE1):c.828T>C (p.Ala276=)
NM_000158.4(GBE1):c.82C>T (p.Leu28=)
NM_000158.4(GBE1):c.841A>T (p.Ile281Phe) rs2107059729
NM_000158.4(GBE1):c.846A>C (p.Ile282=) rs959259894
NM_000158.4(GBE1):c.849C>G (p.Val283=) rs1704706491
NM_000158.4(GBE1):c.84G>A (p.Leu28=) rs2107250695
NM_000158.4(GBE1):c.873T>C (p.His291=)
NM_000158.4(GBE1):c.876T>A (p.Ala292=) rs778351872
NM_000158.4(GBE1):c.876T>C (p.Ala292=)
NM_000158.4(GBE1):c.885T>C (p.Asn295=)
NM_000158.4(GBE1):c.891A>G (p.Ala297=) rs2107059577
NM_000158.4(GBE1):c.905T>C (p.Met302Thr) rs1189654498
NM_000158.4(GBE1):c.909_912del (p.Phe303fs) rs2107059544
NM_000158.4(GBE1):c.90A>G (p.Arg30=)
NM_000158.4(GBE1):c.915G>A (p.Gly305=)
NM_000158.4(GBE1):c.919G>C (p.Asp307His)
NM_000158.4(GBE1):c.930T>C (p.Tyr310=)
NM_000158.4(GBE1):c.93C>G (p.Leu31=)
NM_000158.4(GBE1):c.942A>G (p.Gly314=) rs2107059484
NM_000158.4(GBE1):c.945T>C (p.Pro315=) rs2107059475
NM_000158.4(GBE1):c.950G>A (p.Gly317Glu) rs1253319926
NM_000158.4(GBE1):c.951G>A (p.Gly317=) rs1704704915
NM_000158.4(GBE1):c.955C>G (p.His319Asp)
NM_000158.4(GBE1):c.956A>G (p.His319Arg) rs1490328834
NM_000158.4(GBE1):c.966G>A (p.Trp322Ter) rs1559673456
NM_000158.4(GBE1):c.969T>C (p.Asp323=) rs555689284
NM_000158.4(GBE1):c.981T>A (p.Phe327Leu)
NM_000158.4(GBE1):c.985T>C (p.Tyr329His)
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000158.4(GBE1):c.992+14A>G
NM_000158.4(GBE1):c.992+18A>G
NM_000158.4(GBE1):c.992+2T>G rs772349876
NM_000158.4(GBE1):c.993-10T>C rs2106957202
NM_000158.4(GBE1):c.993-13T>C
NM_000158.4(GBE1):c.993-14C>T
NM_000158.4(GBE1):c.993-17T>A
NM_000158.4(GBE1):c.993-17T>C
NM_000158.4(GBE1):c.993-20A>C
NM_000158.4(GBE1):c.993-2A>G
NM_000158.4(GBE1):c.993-7A>T rs1703919275
NM_000158.4(GBE1):c.993-9A>G rs2106957192
NM_000158.4(GBE1):c.993-9A>T rs2106957192
NM_000158.4(GBE1):c.99G>A (p.Glu33=) rs2107250624
NM_000158.4(GBE1):c.9T>G (p.Ala3=)

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