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.*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.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.*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.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.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.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.*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.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.43G>A (p.Glu15Lys)
|
rs774709930
|
0.00003
|
NM_000158.4(GBE1):c.1204A>G (p.Thr402Ala)
|
rs757297254
|
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.*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.1213C>T (p.Pro405Ser)
|
rs1703871141
|
0.00001
|
NM_000158.4(GBE1):c.1229T>G (p.Ile410Arg)
|
rs771405370
|
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.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.1810G>A (p.Val604Met)
|
rs760015364
|
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.2016G>A (p.Glu672=)
|
rs571448518
|
0.00001
|
NM_000158.4(GBE1):c.203A>T (p.Lys68Met)
|
rs779371387
|
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.692-6A>G
|
rs757655010
|
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_000158.3(GBE1):c.-195G>T
|
rs886058904
|
|
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.-4G>A
|
rs1283709127
|
|
NM_000158.4(GBE1):c.1070A>G (p.Asp357Gly)
|
rs1703917500
|
|
NM_000158.4(GBE1):c.1216G>A (p.Asp406Asn)
|
rs1434653319
|
|
NM_000158.4(GBE1):c.1336-1G>A
|
rs375253942
|
|
NM_000158.4(GBE1):c.144-7T>C
|
rs886058902
|
|
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.1601G>T (p.Gly534Val)
|
rs2106933621
|
|
NM_000158.4(GBE1):c.1656A>C (p.Pro552=)
|
rs1340229013
|
|
NM_000158.4(GBE1):c.1676G>T (p.Ser559Ile)
|
rs1703085718
|
|
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer)
|
rs1367364158
|
|
NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter)
|
rs201029706
|
|
NM_000158.4(GBE1):c.1804-6T>G
|
rs753097564
|
|
NM_000158.4(GBE1):c.1842T>A (p.Ile614=)
|
rs774354874
|
|
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.333G>A (p.Ser111=)
|
rs374518318
|
|
NM_000158.4(GBE1):c.610G>T (p.Val204Leu)
|
rs2107072252
|
|
NM_000158.4(GBE1):c.647A>G (p.Tyr216Cys)
|
rs886058901
|
|
NM_000158.4(GBE1):c.665A>G (p.Asn222Ser)
|
rs1350258947
|
|
NM_000158.4(GBE1):c.733T>C (p.Tyr245His)
|
rs2107066005
|
|
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.906G>A (p.Met302Ile)
|
rs1309818317
|
|
NM_000158.4(GBE1):c.950G>A (p.Gly317Glu)
|
rs1253319926
|
|
NM_000158.4(GBE1):c.969T>C (p.Asp323=)
|
rs555689284
|
|
NM_000158.4(GBE1):c.992+2T>G
|
rs772349876
|
|
NM_000158.4(GBE1):c.998A>G (p.Glu333Gly)
|
rs1553684545
|
|