NM_000158.4(GBE1):c.1000A>G (p.Ile334Val)
|
rs2172397
|
0.97909
|
NM_000158.4(GBE1):c.-28G>T
|
rs368460254
|
0.48974
|
NM_000158.4(GBE1):c.-57G>A
|
rs2290081
|
0.38912
|
NM_000158.4(GBE1):c.*176G>A
|
rs846
|
0.35837
|
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly)
|
rs2229519
|
0.29724
|
NM_000158.4(GBE1):c.-102C>T
|
rs78982329
|
0.12619
|
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.*152C>A
|
rs9820089
|
0.06146
|
NM_000158.4(GBE1):c.1716C>T (p.Asp572=)
|
rs2229520
|
0.01610
|
NM_000158.4(GBE1):c.*308C>T
|
rs141214861
|
0.00757
|
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_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
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.*468G>A
|
rs750772386
|
0.00073
|
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys)
|
rs201758548
|
0.00071
|
NM_000158.4(GBE1):c.*555G>A
|
rs143820392
|
0.00068
|
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.1877A>G (p.Asn626Ser)
|
rs185631651
|
0.00054
|
NM_000158.4(GBE1):c.1237-15C>T
|
rs376809475
|
0.00039
|
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.*466G>A
|
rs571158601
|
0.00029
|
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.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.*226T>C
|
rs748963117
|
0.00011
|
NM_000158.4(GBE1):c.1722T>C (p.Leu574=)
|
rs367905308
|
0.00011
|
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.467G>A (p.Arg156His)
|
rs374404487
|
0.00007
|
NM_000158.4(GBE1):c.*460C>T
|
rs771301034
|
0.00006
|
NM_000158.4(GBE1):c.*558T>C
|
rs886058899
|
0.00006
|
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.1392C>T (p.Leu464=)
|
rs563241317
|
0.00005
|
NM_000158.4(GBE1):c.1544G>A (p.Arg515His)
|
rs201958741
|
0.00005
|
NM_000158.4(GBE1):c.*598G>C
|
rs886058898
|
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.23C>T (p.Ala8Val)
|
rs759518868
|
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.*395A>G
|
rs138608612
|
0.00003
|
NM_000158.4(GBE1):c.143+8C>G
|
rs750447886
|
0.00003
|
NM_000158.4(GBE1):c.1460A>G (p.Asp487Gly)
|
rs747404758
|
0.00003
|
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln)
|
rs80338673
|
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.708G>C (p.Gln236His)
|
rs137852892
|
0.00003
|
NM_000158.4(GBE1):c.1204A>G (p.Thr402Ala)
|
rs757297254
|
0.00002
|
NM_000158.4(GBE1):c.1468del (p.Leu490fs)
|
rs774465102
|
0.00002
|
NM_000158.4(GBE1):c.1781A>G (p.Tyr594Cys)
|
rs370246900
|
0.00002
|
NM_000158.4(GBE1):c.292G>C (p.Val98Leu)
|
rs762945205
|
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.*545G>C
|
rs548648836
|
0.00001
|
NM_000158.4(GBE1):c.-6C>G
|
rs1197683058
|
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.1213C>T (p.Pro405Ser)
|
rs1703871141
|
0.00001
|
NM_000158.4(GBE1):c.1229T>G (p.Ile410Arg)
|
rs771405370
|
0.00001
|
NM_000158.4(GBE1):c.1239del (p.Asp413fs)
|
rs758504480
|
0.00001
|
NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter)
|
rs781198373
|
0.00001
|
NM_000158.4(GBE1):c.1335+9C>G
|
rs754084067
|
0.00001
|
NM_000158.4(GBE1):c.1444C>G (p.Gln482Glu)
|
rs758786811
|
0.00001
|
NM_000158.4(GBE1):c.1581G>A (p.Thr527=)
|
rs140571802
|
0.00001
|
NM_000158.4(GBE1):c.1604A>G (p.Tyr535Cys)
|
rs886058900
|
0.00001
|
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp)
|
rs1703086906
|
0.00001
|
NM_000158.4(GBE1):c.1643G>A (p.Trp548Ter)
|
rs137852894
|
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.1693C>T (p.Arg565Trp)
|
rs552094593
|
0.00001
|
NM_000158.4(GBE1):c.1694G>A (p.Arg565Gln)
|
rs774619760
|
0.00001
|
NM_000158.4(GBE1):c.1714G>A (p.Asp572Asn)
|
rs775980435
|
0.00001
|
NM_000158.4(GBE1):c.1803+2T>C
|
rs539203557
|
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.1874T>G (p.Phe625Cys)
|
rs769567764
|
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.2016G>A (p.Glu672=)
|
rs571448518
|
0.00001
|
NM_000158.4(GBE1):c.203A>T (p.Lys68Met)
|
rs779371387
|
0.00001
|
NM_000158.4(GBE1):c.2052+2T>C
|
rs375596642
|
0.00001
|
NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn)
|
rs1209123501
|
0.00001
|
NM_000158.4(GBE1):c.2103G>A (p.Pro701=)
|
rs775617188
|
0.00001
|
NM_000158.4(GBE1):c.213A>C (p.Arg71Ser)
|
rs755590449
|
0.00001
|
NM_000158.4(GBE1):c.466C>T (p.Arg156Cys)
|
rs763302311
|
0.00001
|
NM_000158.4(GBE1):c.476C>T (p.Pro159Leu)
|
rs1559676007
|
0.00001
|
NM_000158.4(GBE1):c.563A>C (p.His188Pro)
|
rs773558446
|
0.00001
|
NM_000158.4(GBE1):c.692-6A>G
|
rs757655010
|
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.784C>T (p.Arg262Cys)
|
rs137852893
|
0.00001
|
NM_000158.4(GBE1):c.895G>T (p.Gly299Ter)
|
rs779475367
|
0.00001
|
NM_000158.4(GBE1):c.993-1G>T
|
rs763016962
|
0.00001
|
NC_000003.11:g.(?_81538849)_(81539615_81548260)del
|
|
|
NM_000158.3(GBE1):c.-195G>T
|
rs886058904
|
|
NM_000158.4(GBE1):c.(992+1_993-1)_(1618+1_1619-1)del (p.Ser331Argfs)
|
|
|
NM_000158.4(GBE1):c.*12T>C
|
|
|
NM_000158.4(GBE1):c.*388T>A
|
rs1702416693
|
|
NM_000158.4(GBE1):c.*44T>A
|
rs1702420526
|
|
NM_000158.4(GBE1):c.*494A>C
|
rs145934828
|
|
NM_000158.4(GBE1):c.*494A>T
|
rs145934828
|
|
NM_000158.4(GBE1):c.*523T>A
|
rs113749146
|
|
NM_000158.4(GBE1):c.-101C>T
|
rs886058903
|
|
NM_000158.4(GBE1):c.-35dup
|
rs11391701
|
|
NM_000158.4(GBE1):c.-4G>A
|
rs1283709127
|
|
NM_000158.4(GBE1):c.1000del (p.Ile334fs)
|
|
|
NM_000158.4(GBE1):c.1053del (p.Phe351fs)
|
|
|
NM_000158.4(GBE1):c.1070A>G (p.Asp357Gly)
|
rs1703917500
|
|
NM_000158.4(GBE1):c.1141_1142del (p.Phe381fs)
|
|
|
NM_000158.4(GBE1):c.1216G>A (p.Asp406Asn)
|
rs1434653319
|
|
NM_000158.4(GBE1):c.1245_1258del (p.Gly416fs)
|
rs1703800818
|
|
NM_000158.4(GBE1):c.1269_1270insC (p.Ile424fs)
|
|
|
NM_000158.4(GBE1):c.1276C>T (p.Gln426Ter)
|
|
|
NM_000158.4(GBE1):c.1336-1G>A
|
rs375253942
|
|
NM_000158.4(GBE1):c.1364G>A (p.Trp455Ter)
|
|
|
NM_000158.4(GBE1):c.1365G>A (p.Trp455Ter)
|
|
|
NM_000158.4(GBE1):c.143+1G>A
|
rs397515343
|
|
NM_000158.4(GBE1):c.143+2T>C
|
rs2107250439
|
|
NM_000158.4(GBE1):c.144-7T>C
|
rs886058902
|
|
NM_000158.4(GBE1):c.1443delinsCGC (p.Gln482fs)
|
|
|
NM_000158.4(GBE1):c.1454T>C (p.Val485Ala)
|
rs771241994
|
|
NM_000158.4(GBE1):c.1471G>A (p.Ala491Thr)
|
rs772670028
|
|
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr)
|
rs1456579860
|
|
NM_000158.4(GBE1):c.1496T>A (p.Met499Lys)
|
|
|
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys)
|
rs80338672
|
|
NM_000158.4(GBE1):c.1561A>T (p.Lys521Ter)
|
rs773775991
|
|
NM_000158.4(GBE1):c.1601G>T (p.Gly534Val)
|
rs2106933621
|
|
NM_000158.4(GBE1):c.1612T>G (p.Phe538Val)
|
|
|
NM_000158.4(GBE1):c.1618+1G>A
|
rs1703670302
|
|
NM_000158.4(GBE1):c.1634A>G (p.His545Arg)
|
rs137852889
|
|
NM_000158.4(GBE1):c.1656A>C (p.Pro552=)
|
rs1340229013
|
|
NM_000158.4(GBE1):c.1671dup (p.Glu558Ter)
|
|
|
NM_000158.4(GBE1):c.1675_1676del (p.Ser559fs)
|
|
|
NM_000158.4(GBE1):c.1676G>T (p.Ser559Ile)
|
rs1703085718
|
|
NM_000158.4(GBE1):c.167del (p.Ile55_Leu56insTer)
|
|
|
NM_000158.4(GBE1):c.1680C>A (p.Tyr560Ter)
|
rs1559637815
|
|
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer)
|
rs1367364158
|
|
NM_000158.4(GBE1):c.1738del (p.Phe579_Leu580insTer)
|
|
|
NM_000158.4(GBE1):c.1774G>T (p.Glu592Ter)
|
rs137852890
|
|
NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter)
|
rs201029706
|
|
NM_000158.4(GBE1):c.1799_1803+8del
|
|
|
NM_000158.4(GBE1):c.1804-2A>T
|
rs1224090803
|
|
NM_000158.4(GBE1):c.1804-6T>G
|
rs753097564
|
|
NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter)
|
rs772802187
|
|
NM_000158.4(GBE1):c.1842T>A (p.Ile614=)
|
rs774354874
|
|
NM_000158.4(GBE1):c.1861CTT[1] (p.Leu622del)
|
rs1576137368
|
|
NM_000158.4(GBE1):c.1934+1A>G
|
|
|
NM_000158.4(GBE1):c.1934+2T>C
|
|
|
NM_000158.4(GBE1):c.1935-1C>A
|
|
|
NM_000158.4(GBE1):c.1935-1C>T
|
rs1475447884
|
|
NM_000158.4(GBE1):c.2052+1G>A
|
rs2106809795
|
|
NM_000158.4(GBE1):c.2052+1G>T
|
rs2106809795
|
|
NM_000158.4(GBE1):c.2053-3372del
|
rs34052684
|
|
NM_000158.4(GBE1):c.2053-3382dup
|
rs34052684
|
|
NM_000158.4(GBE1):c.2095G>T (p.Asp699Tyr)
|
rs1337608522
|
|
NM_000158.4(GBE1):c.22G>A (p.Ala8Thr)
|
|
|
NM_000158.4(GBE1):c.232G>A (p.Val78Ile)
|
|
|
NM_000158.4(GBE1):c.288del (p.Gly97fs)
|
rs1057517315
|
|
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.336C>A (p.Tyr112Ter)
|
rs773473771
|
|
NM_000158.4(GBE1):c.415G>T (p.Gly139Ter)
|
rs1553690406
|
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NM_000158.4(GBE1):c.430-1G>C
|
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NM_000158.4(GBE1):c.47del (p.Ala16fs)
|
rs2107250805
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NM_000158.4(GBE1):c.480G>A (p.Trp160Ter)
|
rs776943352
|
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NM_000158.4(GBE1):c.505del (p.Asp169fs)
|
rs1370223073
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NM_000158.4(GBE1):c.556-2A>G
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|
NM_000158.4(GBE1):c.610G>T (p.Val204Leu)
|
rs2107072252
|
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NM_000158.4(GBE1):c.647A>G (p.Tyr216Cys)
|
rs886058901
|
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NM_000158.4(GBE1):c.665A>G (p.Asn222Ser)
|
rs1350258947
|
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NM_000158.4(GBE1):c.691+5G>C
|
rs397515344
|
|
NM_000158.4(GBE1):c.733T>C (p.Tyr245His)
|
rs2107066005
|
|
NM_000158.4(GBE1):c.753C>G (p.Tyr251Ter)
|
|
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NM_000158.4(GBE1):c.754C>T (p.Gln252Ter)
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NM_000158.4(GBE1):c.755_756delinsC (p.Gln252fs)
|
|
|
NM_000158.4(GBE1):c.770T>C (p.Phe257Ser)
|
rs1576183537
|
|
NM_000158.4(GBE1):c.776C>G (p.Ala259Gly)
|
rs1576183525
|
|
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu)
|
rs754525424
|
|
NM_000158.4(GBE1):c.854T>G (p.Leu285Ter)
|
|
|
NM_000158.4(GBE1):c.872_874delinsTT (p.His291fs)
|
|
|
NM_000158.4(GBE1):c.906G>A (p.Met302Ile)
|
rs1309818317
|
|
NM_000158.4(GBE1):c.909_912del (p.Phe303fs)
|
rs2107059544
|
|
NM_000158.4(GBE1):c.950G>A (p.Gly317Glu)
|
rs1253319926
|
|
NM_000158.4(GBE1):c.956A>G (p.His319Arg)
|
rs1490328834
|
|
NM_000158.4(GBE1):c.957_958insCTAT (p.Asp320delinsLeuTer)
|
|
|
NM_000158.4(GBE1):c.969T>C (p.Asp323=)
|
rs555689284
|
|
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser)
|
rs80338671
|
|
NM_000158.4(GBE1):c.992+2T>G
|
rs772349876
|
|
NM_000158.4(GBE1):c.993-1dup
|
|
|
NM_000158.4(GBE1):c.993-2A>G
|
|
|
NM_000158.4(GBE1):c.998A>G (p.Glu333Gly)
|
rs1553684545
|
|
NM_000158.4(GBE1):c.998A>T (p.Glu333Val)
|
rs1553684545
|
|
c.[708G>C]+[784C>T]
|
|
|
c.[c.38dupA]+[1571G>A]
|
|
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