ClinVar Miner

List of variants in gene GBE1 studied for Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 783
Download table as spreadsheet
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.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.1283G>C (p.Gly428Ala) rs756129254 0.00006
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.(?_81490397)_(81490473_?)del
NC_000003.12:g.(?_81490397)_(81761527_?)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=)

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