NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys)
|
rs201758548
|
0.00071
|
NM_000158.4(GBE1):c.2056T>C (p.Tyr686His)
|
rs754607405
|
0.00035
|
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.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.467G>A (p.Arg156His)
|
rs374404487
|
0.00007
|
NM_000158.4(GBE1):c.1283G>C (p.Gly428Ala)
|
rs756129254
|
0.00006
|
NM_000158.4(GBE1):c.1988T>C (p.Leu663Pro)
|
rs761908536
|
0.00006
|
NM_000158.4(GBE1):c.527T>A (p.Ile176Lys)
|
rs571116428
|
0.00006
|
NM_000158.4(GBE1):c.785G>A (p.Arg262His)
|
rs369574719
|
0.00006
|
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.23C>T (p.Ala8Val)
|
rs759518868
|
0.00004
|
NM_000158.4(GBE1):c.626A>G (p.His209Arg)
|
rs542346749
|
0.00004
|
NM_000158.4(GBE1):c.143+6G>A
|
rs371048718
|
0.00003
|
NM_000158.4(GBE1):c.153G>C (p.Gln51His)
|
rs760281369
|
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.583C>T (p.Arg195Trp)
|
rs371086146
|
0.00003
|
NM_000158.4(GBE1):c.1222A>G (p.Ile408Val)
|
rs760095778
|
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.292G>C (p.Val98Leu)
|
rs762945205
|
0.00002
|
NM_000158.4(GBE1):c.535G>A (p.Asp179Asn)
|
rs758425725
|
0.00002
|
NM_000158.4(GBE1):c.1205C>T (p.Thr402Met)
|
rs751619568
|
0.00001
|
NM_000158.4(GBE1):c.1618+4A>G
|
rs763962659
|
0.00001
|
NM_000158.4(GBE1):c.1647A>C (p.Leu549Phe)
|
rs544404712
|
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.1810G>A (p.Val604Met)
|
rs760015364
|
0.00001
|
NM_000158.4(GBE1):c.200A>G (p.Asp67Gly)
|
rs368256869
|
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.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.466C>T (p.Arg156Cys)
|
rs763302311
|
0.00001
|
NM_000158.4(GBE1):c.488A>G (p.Tyr163Cys)
|
rs771447249
|
0.00001
|
NM_000158.4(GBE1):c.548C>T (p.Ser183Leu)
|
rs1327623597
|
0.00001
|
NM_000158.4(GBE1):c.721A>G (p.Met241Val)
|
rs747155575
|
0.00001
|
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys)
|
rs137852893
|
0.00001
|
NM_000158.4(GBE1):c.88A>G (p.Arg30Gly)
|
rs1236771685
|
0.00001
|
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.(?_81691912)_(81810668_?)dup
|
|
|
NM_000158.4(GBE1):c.1027A>G (p.Arg343Gly)
|
|
|
NM_000158.4(GBE1):c.1031G>T (p.Trp344Leu)
|
rs773381709
|
|
NM_000158.4(GBE1):c.1048C>T (p.Arg350Cys)
|
|
|
NM_000158.4(GBE1):c.107C>A (p.Pro36Gln)
|
|
|
NM_000158.4(GBE1):c.1088T>C (p.Leu363Pro)
|
rs965176553
|
|
NM_000158.4(GBE1):c.1109G>A (p.Gly370Asp)
|
|
|
NM_000158.4(GBE1):c.1112A>G (p.Gln371Arg)
|
|
|
NM_000158.4(GBE1):c.1144G>A (p.Gly382Arg)
|
|
|
NM_000158.4(GBE1):c.1148T>A (p.Leu383Gln)
|
rs777291512
|
|
NM_000158.4(GBE1):c.1148T>C (p.Leu383Pro)
|
|
|
NM_000158.4(GBE1):c.1183T>G (p.Leu395Val)
|
rs1269189934
|
|
NM_000158.4(GBE1):c.1202A>G (p.His401Arg)
|
|
|
NM_000158.4(GBE1):c.1264T>A (p.Ser422Thr)
|
rs2106945255
|
|
NM_000158.4(GBE1):c.1283G>A (p.Gly428Glu)
|
|
|
NM_000158.4(GBE1):c.1285G>A (p.Gly429Ser)
|
|
|
NM_000158.4(GBE1):c.1309A>G (p.Met437Val)
|
rs1288041902
|
|
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.1335+3A>C
|
|
|
NM_000158.4(GBE1):c.1368C>G (p.Asn456Lys)
|
rs2106938616
|
|
NM_000158.4(GBE1):c.1375G>A (p.Asp459Asn)
|
rs752100789
|
|
NM_000158.4(GBE1):c.1388C>T (p.Thr463Met)
|
|
|
NM_000158.4(GBE1):c.1402C>A (p.Arg468Ser)
|
rs776526697
|
|
NM_000158.4(GBE1):c.1403G>A (p.Arg468His)
|
|
|
NM_000158.4(GBE1):c.1466C>T (p.Ser489Leu)
|
|
|
NM_000158.4(GBE1):c.146A>G (p.Tyr49Cys)
|
|
|
NM_000158.4(GBE1):c.1471G>A (p.Ala491Thr)
|
rs772670028
|
|
NM_000158.4(GBE1):c.1528A>T (p.Thr510Ser)
|
rs751466558
|
|
NM_000158.4(GBE1):c.1534G>C (p.Val512Leu)
|
|
|
NM_000158.4(GBE1):c.1563A>C (p.Lys521Asn)
|
|
|
NM_000158.4(GBE1):c.1592G>A (p.Gly531Asp)
|
rs2106933633
|
|
NM_000158.4(GBE1):c.159C>A (p.Ser53Arg)
|
|
|
NM_000158.4(GBE1):c.1615A>T (p.Met539Leu)
|
|
|
NM_000158.4(GBE1):c.1618+3_1618+6del
|
|
|
NM_000158.4(GBE1):c.1619-3C>T
|
|
|
NM_000158.4(GBE1):c.162A>C (p.Gln54His)
|
|
|
NM_000158.4(GBE1):c.1666A>G (p.Asn556Asp)
|
|
|
NM_000158.4(GBE1):c.1712A>T (p.Asp571Val)
|
|
|
NM_000158.4(GBE1):c.1720C>T (p.Leu574Phe)
|
rs2106872197
|
|
NM_000158.4(GBE1):c.1727G>A (p.Arg576His)
|
|
|
NM_000158.4(GBE1):c.1757A>G (p.Asp586Gly)
|
|
|
NM_000158.4(GBE1):c.1759A>G (p.Met587Val)
|
|
|
NM_000158.4(GBE1):c.1771G>A (p.Glu591Lys)
|
|
|
NM_000158.4(GBE1):c.1803+5G>T
|
|
|
NM_000158.4(GBE1):c.1804-6T>G
|
rs753097564
|
|
NM_000158.4(GBE1):c.1814G>A (p.Ser605Asn)
|
|
|
NM_000158.4(GBE1):c.1831A>C (p.Asn611His)
|
rs2106869674
|
|
NM_000158.4(GBE1):c.1844C>A (p.Ala615Asp)
|
|
|
NM_000158.4(GBE1):c.1848T>G (p.Phe616Leu)
|
|
|
NM_000158.4(GBE1):c.1910G>A (p.Arg637Gln)
|
|
|
NM_000158.4(GBE1):c.193G>A (p.Gly65Ser)
|
|
|
NM_000158.4(GBE1):c.1970A>G (p.Tyr657Cys)
|
|
|
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.2010T>G (p.Phe670Leu)
|
rs2106809858
|
|
NM_000158.4(GBE1):c.2067C>G (p.Ser689Arg)
|
|
|
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.259T>C (p.Tyr87His)
|
rs1705760813
|
|
NM_000158.4(GBE1):c.283G>A (p.Ala95Thr)
|
|
|
NM_000158.4(GBE1):c.289G>A (p.Gly97Arg)
|
|
|
NM_000158.4(GBE1):c.343A>G (p.Lys115Glu)
|
rs1705180182
|
|
NM_000158.4(GBE1):c.3G>C (p.Met1Ile)
|
|
|
NM_000158.4(GBE1):c.406G>A (p.Val136Met)
|
|
|
NM_000158.4(GBE1):c.429G>T (p.Lys143Asn)
|
|
|
NM_000158.4(GBE1):c.451G>A (p.Gly151Arg)
|
|
|
NM_000158.4(GBE1):c.497G>A (p.Arg166His)
|
|
|
NM_000158.4(GBE1):c.521A>T (p.Asp174Val)
|
|
|
NM_000158.4(GBE1):c.526A>T (p.Ile176Leu)
|
|
|
NM_000158.4(GBE1):c.534G>C (p.Trp178Cys)
|
|
|
NM_000158.4(GBE1):c.56A>G (p.Asn19Ser)
|
|
|
NM_000158.4(GBE1):c.574A>C (p.Lys192Gln)
|
|
|
NM_000158.4(GBE1):c.599A>G (p.Tyr200Cys)
|
|
|
NM_000158.4(GBE1):c.610G>T (p.Val204Leu)
|
rs2107072252
|
|
NM_000158.4(GBE1):c.640G>T (p.Ala214Ser)
|
|
|
NM_000158.4(GBE1):c.665A>G (p.Asn222Ser)
|
rs1350258947
|
|
NM_000158.4(GBE1):c.697A>G (p.Asn233Asp)
|
|
|
NM_000158.4(GBE1):c.713T>C (p.Met238Thr)
|
|
|
NM_000158.4(GBE1):c.718A>G (p.Ile240Val)
|
rs868766244
|
|
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.793A>G (p.Thr265Ala)
|
|
|
NM_000158.4(GBE1):c.808C>A (p.Gln270Lys)
|
|
|
NM_000158.4(GBE1):c.809A>T (p.Gln270Leu)
|
|
|
NM_000158.4(GBE1):c.826G>C (p.Ala276Pro)
|
rs2107059765
|
|
NM_000158.4(GBE1):c.841A>T (p.Ile281Phe)
|
rs2107059729
|
|
NM_000158.4(GBE1):c.905T>C (p.Met302Thr)
|
rs1189654498
|
|
NM_000158.4(GBE1):c.919G>C (p.Asp307His)
|
|
|
NM_000158.4(GBE1):c.950G>A (p.Gly317Glu)
|
rs1253319926
|
|
NM_000158.4(GBE1):c.981T>A (p.Phe327Leu)
|
|
|