NM_000157.4(GBA1):c.1225-34C>A
|
rs3115534
|
0.94932
|
NM_000157.4(GBA1):c.454+47G>A
|
rs2075569
|
0.41024
|
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)
|
rs2230288
|
0.01061
|
NM_000157.4(GBA1):c.762-18T>A
|
rs140335079
|
0.00896
|
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn)
|
rs75671029
|
0.00236
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_000157.4(GBA1):c.1473C>T (p.Pro491=)
|
rs149257166
|
0.00094
|
NM_000157.4(GBA1):c.1200G>A (p.Met400Ile)
|
rs149487315
|
0.00091
|
NM_000157.4(GBA1):c.1224G>A (p.Thr408=)
|
rs138498426
|
0.00022
|
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)
|
rs1064651
|
0.00020
|
NM_000157.4(GBA1):c.222_224del (p.Thr75del)
|
rs761621516
|
0.00016
|
NM_000157.4(GBA1):c.882T>G (p.His294Gln)
|
rs367968666
|
0.00016
|
NM_000157.4(GBA1):c.168C>T (p.Val56=)
|
rs145773486
|
0.00011
|
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser)
|
rs364897
|
0.00011
|
NM_000157.4(GBA1):c.1495G>A (p.Val499Met)
|
rs369068553
|
0.00006
|
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)
|
rs80356771
|
0.00006
|
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)
|
rs75822236
|
0.00006
|
NM_000157.4(GBA1):c.1455A>G (p.Ala485=)
|
rs199928507
|
0.00004
|
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)
|
rs78973108
|
0.00004
|
NM_000157.4(GBA1):c.928A>G (p.Ser310Gly)
|
rs1057942
|
0.00004
|
NM_000157.4(GBA1):c.437C>T (p.Ser146Leu)
|
rs758447515
|
0.00003
|
NM_000157.4(GBA1):c.637C>T (p.Leu213Phe)
|
rs374591570
|
0.00003
|
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg)
|
rs61748906
|
0.00003
|
NM_000157.4(GBA1):c.681T>G (p.Asn227Lys)
|
rs381418
|
0.00003
|
NM_000157.4(GBA1):c.762-1G>C
|
rs1237637353
|
0.00003
|
NM_000157.4(GBA1):c.1346C>T (p.Thr449Met)
|
rs757930613
|
0.00002
|
NM_000157.4(GBA1):c.247C>T (p.Arg83Cys)
|
rs1141812
|
0.00002
|
NM_000157.4(GBA1):c.492C>G (p.Ser164Arg)
|
rs746019841
|
0.00002
|
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)
|
rs409652
|
0.00002
|
NM_000157.4(GBA1):c.946C>T (p.Arg316Cys)
|
rs1264734195
|
0.00002
|
NM_000157.4(GBA1):c.1043C>G (p.Ala348Gly)
|
rs78396650
|
0.00001
|
NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile)
|
rs76539814
|
0.00001
|
NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg)
|
rs121908305
|
0.00001
|
NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys)
|
rs374306700
|
0.00001
|
NM_000157.4(GBA1):c.1151C>T (p.Ser384Phe)
|
rs868591897
|
0.00001
|
NM_000157.4(GBA1):c.1174C>T (p.Arg392Trp)
|
rs121908308
|
0.00001
|
NM_000157.4(GBA1):c.1184C>T (p.Ser395Phe)
|
rs760307559
|
0.00001
|
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)
|
rs121908311
|
0.00001
|
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)
|
rs80356769
|
0.00001
|
NM_000157.4(GBA1):c.1316G>A (p.Ser439Asn)
|
rs1571966221
|
0.00001
|
NM_000157.4(GBA1):c.1505G>A (p.Arg502His)
|
rs80356772
|
0.00001
|
NM_000157.4(GBA1):c.1603C>T (p.Arg535Cys)
|
rs747506979
|
0.00001
|
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp)
|
rs1141814
|
0.00001
|
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln)
|
rs79653797
|
0.00001
|
NM_000157.4(GBA1):c.595_596del (p.Leu199fs)
|
rs749714463
|
0.00001
|
NM_000157.4(GBA1):c.604C>T (p.Arg202Ter)
|
rs1009850780
|
0.00001
|
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys)
|
rs398123532
|
0.00001
|
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)
|
rs1064644
|
0.00001
|
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile)
|
rs381737
|
0.00001
|
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)
|
rs74500255
|
0.00001
|
NM_000157.4(GBA1):c.896T>C (p.Ile299Thr)
|
rs794727908
|
0.00001
|
NM_000157.3(GBA1):c.[1197G>T];[1603C>T]
|
|
|
NM_000157.3(GBA1):c.[1448T>C];[167T>G]
|
|
|
NM_000157.3(GBA1):c.[1448T>C];[407C>T]
|
|
|
NM_000157.4(GBA1):c.*92G>A
|
|
|
NM_000157.4(GBA1):c.1043C>T (p.Ala348Val)
|
rs78396650
|
|
NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser)
|
rs1553217294
|
|
NM_000157.4(GBA1):c.1053G>T (p.Trp351Cys)
|
rs121908304
|
|
NM_000157.4(GBA1):c.1077C>A (p.Ala359=)
|
rs1671753933
|
|
NM_000157.4(GBA1):c.1171G>C (p.Val391Leu)
|
rs398123527
|
|
NM_000157.4(GBA1):c.1177C>G (p.Leu393Val)
|
rs878853315
|
|
NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter)
|
rs121908309
|
|
NM_000157.4(GBA1):c.1208G>C (p.Ser403Thr)
|
rs121908307
|
|
NM_000157.4(GBA1):c.1214G>C (p.Ser405Thr)
|
rs1392291885
|
|
NM_000157.4(GBA1):c.1228C>G (p.Leu410Val)
|
rs121908314
|
|
NM_000157.4(GBA1):c.1238A>C (p.His413Pro)
|
rs911331923
|
|
NM_000157.4(GBA1):c.1240G>T (p.Val414Leu)
|
rs398123528
|
|
NM_000157.4(GBA1):c.1249T>G (p.Trp417Gly)
|
rs1450426641
|
|
NM_000157.4(GBA1):c.1255G>A (p.Asp419Asn)
|
rs1671712475
|
|
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs)
|
rs80356768
|
|
NM_000157.4(GBA1):c.1271T>C (p.Leu424Pro)
|
rs772548282
|
|
NM_000157.4(GBA1):c.1319C>T (p.Pro440Leu)
|
rs74598136
|
|
NM_000157.4(GBA1):c.1343A>T (p.Asp448Val)
|
rs77369218
|
|
NM_000157.4(GBA1):c.1361C>T (p.Pro454Leu)
|
|
|
NM_000157.4(GBA1):c.1388+2T>C
|
rs1571965880
|
|
NM_000157.4(GBA1):c.1388G>C (p.Ser463Thr)
|
rs1571965884
|
|
NM_000157.4(GBA1):c.1393T>G (p.Phe465Val)
|
|
|
NM_000157.4(GBA1):c.1397T>G (p.Ile466Ser)
|
rs878853320
|
|
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)
|
rs421016
|
|
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)
|
rs421016
|
|
NM_000157.4(GBA1):c.1459G>A (p.Ala487Thr)
|
rs878853317
|
|
NM_000157.4(GBA1):c.1474G>A (p.Asp492Asn)
|
rs779958429
|
|
NM_000157.4(GBA1):c.1495G>C (p.Val499Leu)
|
rs369068553
|
|
NM_000157.4(GBA1):c.1506-10_1506-9delinsGA
|
rs1557900564
|
|
NM_000157.4(GBA1):c.1549G>A (p.Gly517Ser)
|
rs121908301
|
|
NM_000157.4(GBA1):c.155C>T (p.Ser52Leu)
|
|
|
NM_000157.4(GBA1):c.1599G>A (p.Trp533Ter)
|
rs1671655923
|
|
NM_000157.4(GBA1):c.160G>A (p.Val54Met)
|
|
|
NM_000157.4(GBA1):c.160G>T (p.Val54Leu)
|
rs121908302
|
|
NM_000157.4(GBA1):c.203dup (p.Thr69fs)
|
rs1170895261
|
|
NM_000157.4(GBA1):c.254G>A (p.Gly85Glu)
|
rs77829017
|
|
NM_000157.4(GBA1):c.260G>A (p.Arg87Gln)
|
|
|
NM_000157.4(GBA1):c.354G>C (p.Lys118Asn)
|
rs121908312
|
|
NM_000157.4(GBA1):c.370A>G (p.Met124Val)
|
|
|
NM_000157.4(GBA1):c.403_404del (p.Leu135fs)
|
rs1671970302
|
|
NM_000157.4(GBA1):c.415G>C (p.Ala139Pro)
|
rs878853314
|
|
NM_000157.4(GBA1):c.444del (p.Ser149fs)
|
|
|
NM_000157.4(GBA1):c.454+1G>A
|
rs539166948
|
|
NM_000157.4(GBA1):c.481C>T (p.Pro161Ser)
|
rs121908299
|
|
NM_000157.4(GBA1):c.484A>G (p.Met162Val)
|
|
|
NM_000157.4(GBA1):c.508C>T (p.Arg170Cys)
|
rs398123530
|
|
NM_000157.4(GBA1):c.509G>A (p.Arg170His)
|
rs80356763
|
|
NM_000157.4(GBA1):c.526G>A (p.Asp176Asn)
|
rs1553217946
|
|
NM_000157.4(GBA1):c.533del (p.Pro178fs)
|
rs397518434
|
|
NM_000157.4(GBA1):c.557del (p.Phe186fs)
|
rs1671890998
|
|
NM_000157.4(GBA1):c.586A>C (p.Lys196Gln)
|
rs121908297
|
|
NM_000157.4(GBA1):c.622C>T (p.Gln208Ter)
|
|
|
NM_000157.4(GBA1):c.653G>A (p.Trp218Ter)
|
rs867929413
|
|
NM_000157.4(GBA1):c.661C>A (p.Pro221Thr)
|
rs866075757
|
|
NM_000157.4(GBA1):c.751T>C (p.Tyr251His)
|
rs121908300
|
|
NM_000157.4(GBA1):c.763T>G (p.Phe255Val)
|
rs121908303
|
|
NM_000157.4(GBA1):c.866G>C (p.Gly289Ala)
|
rs878853321
|
|
NM_000157.4(GBA1):c.898G>A (p.Ala300Thr)
|
rs1671824775
|
|
NM_000157.4(GBA1):c.907C>A (p.Leu303Ile)
|
|
|
NM_000157.4(GBA1):c.913C>G (p.Pro305Ala)
|
rs770796008
|
|
NM_000157.4(GBA1):c.914C>T (p.Pro305Leu)
|
rs79215220
|
|
NM_000157.4(GBA1):c.914del (p.Pro305fs)
|
rs1366567865
|
|
NM_000157.4(GBA1):c.929G>A (p.Ser310Asn)
|
rs74731340
|
|
NM_000157.4(GBA1):c.970C>T (p.Arg324Cys)
|
rs765633380
|
|
NM_000157.4(GBA1):c.983C>T (p.Pro328Leu)
|
rs121908298
|
|
NM_000157.4(GBA1):c.999+242C>A
|
rs1571969643
|
|
NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C]
|
|
|
NM_001005741.2(GBA1):c.[535G>C;c.1093G>A]
|
|
|