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.1000-81A>C
|
rs9628662
|
0.38778
|
NM_002778.4(PSAP):c.1351-14A>G
|
rs4747203
|
0.34512
|
NM_002778.4(PSAP):c.*891G>A
|
rs7869
|
0.34207
|
NM_002778.4(PSAP):c.1350+5G>A
|
rs11000016
|
0.16762
|
NM_002778.4(PSAP):c.-4C>T
|
rs2070188
|
0.12811
|
NM_000157.4(GBA1):c.38A>G (p.Lys13Arg)
|
rs150466109
|
0.02394
|
NM_002778.4(PSAP):c.*775G>A
|
rs79662404
|
0.01440
|
NM_002778.4(PSAP):c.-10A>G
|
rs76455588
|
0.01197
|
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)
|
rs2230288
|
0.01061
|
NM_000157.4(GBA1):c.762-18T>A
|
rs140335079
|
0.00896
|
NM_002778.4(PSAP):c.78C>T (p.Thr26=)
|
rs74145688
|
0.00850
|
NM_002778.4(PSAP):c.1452G>A (p.Ser484=)
|
rs114389264
|
0.00778
|
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)
|
rs75548401
|
0.00627
|
NM_002778.4(PSAP):c.*122C>G
|
rs113284884
|
0.00572
|
NM_000157.4(GBA1):c.1092G>A (p.Gly364=)
|
rs143222798
|
0.00497
|
NM_002778.4(PSAP):c.204C>T (p.Asp68=)
|
rs143981174
|
0.00484
|
NM_002778.4(PSAP):c.1380C>T (p.Pro460=)
|
rs1049882
|
0.00284
|
NM_002778.4(PSAP):c.189C>T (p.Cys63=)
|
rs111369573
|
0.00266
|
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_002778.4(PSAP):c.1056C>T (p.Ser352=)
|
rs138328594
|
0.00185
|
NM_022124.6(CDH23):c.*434G>A
|
rs529522213
|
0.00133
|
NM_022124.6(CDH23):c.*430A>T
|
rs562268606
|
0.00131
|
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_002778.4(PSAP):c.174+9C>T
|
rs141133813
|
0.00090
|
NM_002778.4(PSAP):c.714C>G (p.Ala238=)
|
rs141199649
|
0.00076
|
NM_000157.4(GBA1):c.474C>T (p.Ile158=)
|
rs147411159
|
0.00057
|
NM_002778.4(PSAP):c.41-13G>C
|
rs138010978
|
0.00055
|
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser)
|
rs144942998
|
0.00051
|
NM_002778.4(PSAP):c.-29C>T
|
rs201780377
|
0.00035
|
NM_002778.4(PSAP):c.-28A>C
|
rs375720661
|
0.00028
|
NM_000157.4(GBA1):c.1224G>A (p.Thr408=)
|
rs138498426
|
0.00022
|
NM_002778.4(PSAP):c.94T>G (p.Trp32Gly)
|
rs200008050
|
0.00022
|
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)
|
rs1064651
|
0.00020
|
NM_002778.4(PSAP):c.1476T>C (p.Thr492=)
|
rs139178900
|
0.00019
|
NM_000157.4(GBA1):c.222_224del (p.Thr75del)
|
rs761621516
|
0.00016
|
NM_000157.4(GBA1):c.535G>C (p.Asp179His)
|
rs147138516
|
0.00016
|
NM_000157.4(GBA1):c.882T>G (p.His294Gln)
|
rs367968666
|
0.00016
|
NM_002778.4(PSAP):c.*376A>G
|
rs141906397
|
0.00016
|
NM_002778.4(PSAP):c.*737G>A
|
rs147046509
|
0.00016
|
NM_002778.4(PSAP):c.1088C>T (p.Thr363Met)
|
rs140066253
|
0.00013
|
NM_002778.4(PSAP):c.557G>A (p.Arg186His)
|
rs138880818
|
0.00013
|
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_002778.4(PSAP):c.*574G>C
|
rs549402343
|
0.00010
|
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met)
|
rs202125074
|
0.00010
|
NM_002778.4(PSAP):c.577-10T>C
|
rs185892516
|
0.00009
|
NM_002778.4(PSAP):c.1456C>T (p.His486Tyr)
|
rs749660716
|
0.00008
|
NM_002778.4(PSAP):c.379C>T (p.Arg127Cys)
|
rs148519599
|
0.00007
|
NM_000157.4(GBA1):c.115+1G>A
|
rs104886460
|
0.00006
|
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.84dup (p.Leu29fs)
|
rs387906315
|
0.00006
|
NM_002778.4(PSAP):c.*1008C>T
|
rs537171961
|
0.00006
|
NM_002778.4(PSAP):c.*276G>A
|
rs547409137
|
0.00006
|
NM_002778.4(PSAP):c.1000A>T (p.Thr334Ser)
|
rs749663645
|
0.00006
|
NM_002778.4(PSAP):c.227T>A (p.Met76Lys)
|
rs377024801
|
0.00006
|
NM_002778.4(PSAP):c.249+6C>T
|
rs774663731
|
0.00006
|
NM_002778.4(PSAP):c.695G>A (p.Arg232His)
|
rs147265566
|
0.00006
|
NM_002778.4(PSAP):c.*596A>G
|
rs965039324
|
0.00005
|
NM_002778.4(PSAP):c.-22G>C
|
rs569841336
|
0.00005
|
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_002778.4(PSAP):c.*346C>T
|
rs951110904
|
0.00004
|
NM_000157.4(GBA1):c.1447C>T (p.Leu483=)
|
rs369966551
|
0.00003
|
NM_000157.4(GBA1):c.437C>T (p.Ser146Leu)
|
rs758447515
|
0.00003
|
NM_000157.4(GBA1):c.475C>T (p.Arg159Trp)
|
rs439898
|
0.00003
|
NM_000157.4(GBA1):c.497A>T (p.Asp166Val)
|
rs79796061
|
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_002778.4(PSAP):c.*787C>T
|
rs932052243
|
0.00003
|
NM_002778.4(PSAP):c.*9A>G
|
rs376628499
|
0.00003
|
NM_002778.4(PSAP):c.336C>T (p.Ser112=)
|
rs370977178
|
0.00003
|
NM_002778.4(PSAP):c.380G>A (p.Arg127His)
|
rs886047151
|
0.00003
|
NM_002778.4(PSAP):c.565C>T (p.Pro189Ser)
|
rs188854022
|
0.00003
|
NM_002778.4(PSAP):c.679_681del (p.Lys227del)
|
rs1431844269
|
0.00003
|
NM_002778.4(PSAP):c.798G>A (p.Ala266=)
|
rs199672678
|
0.00003
|
NM_002778.4(PSAP):c.923C>T (p.Pro308Leu)
|
rs886047150
|
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.689T>G (p.Val230Gly)
|
rs381427
|
0.00002
|
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)
|
rs409652
|
0.00002
|
NM_000157.4(GBA1):c.941A>G (p.Asn314Ser)
|
rs535896234
|
0.00002
|
NM_000157.4(GBA1):c.946C>T (p.Arg316Cys)
|
rs1264734195
|
0.00002
|
NM_002778.4(PSAP):c.112A>T (p.Thr38Ser)
|
rs535525554
|
0.00002
|
NM_002778.4(PSAP):c.1197C>T (p.His399=)
|
rs748761213
|
0.00002
|
NM_002778.4(PSAP):c.40+12G>A
|
rs886047153
|
0.00002
|
NM_002778.4(PSAP):c.419C>T (p.Ser140Phe)
|
rs1428436713
|
0.00002
|
NM_000157.4(GBA1):c.1043C>G (p.Ala348Gly)
|
rs78396650
|
0.00001
|
NM_000157.4(GBA1):c.1049A>G (p.His350Arg)
|
rs78198234
|
0.00001
|
NM_000157.4(GBA1):c.104C>T (p.Ser35Leu)
|
rs757041827
|
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.1312G>A (p.Asp438Asn)
|
rs1553217009
|
0.00001
|
NM_000157.4(GBA1):c.1316G>A (p.Ser439Asn)
|
rs1571966221
|
0.00001
|
NM_000157.4(GBA1):c.145G>A (p.Gly49Ser)
|
rs760930573
|
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.171C>T (p.Cys57=)
|
rs1671995080
|
0.00001
|
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp)
|
rs1141814
|
0.00001
|
NM_000157.4(GBA1):c.34C>T (p.Pro12Ser)
|
rs763770350
|
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.709A>G (p.Lys237Glu)
|
rs773409311
|
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_002778.4(PSAP):c.*238G>C
|
rs1174797357
|
0.00001
|
NM_002778.4(PSAP):c.*90C>T
|
rs1348415797
|
0.00001
|
NM_002778.4(PSAP):c.*935A>G
|
rs886047148
|
0.00001
|
NM_002778.4(PSAP):c.1146C>T (p.Cys382=)
|
rs573095617
|
0.00001
|
NM_002778.4(PSAP):c.1192G>A (p.Val398Ile)
|
rs759178813
|
0.00001
|
NM_002778.4(PSAP):c.1432-4A>G
|
rs775086571
|
0.00001
|
NM_002778.4(PSAP):c.250-12G>A
|
rs886047152
|
0.00001
|
NM_002778.4(PSAP):c.423C>T (p.Leu141=)
|
rs780891597
|
0.00001
|
NM_002778.4(PSAP):c.67A>G (p.Lys23Glu)
|
rs143016278
|
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.1029del (p.Lys342_Tyr343insTer)
|
rs1553217314
|
|
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.1054T>C (p.Tyr352His)
|
|
|
NM_000157.4(GBA1):c.1060G>C (p.Asp354His)
|
rs398123526
|
|
NM_000157.4(GBA1):c.1077C>A (p.Ala359=)
|
rs1671753933
|
|
NM_000157.4(GBA1):c.108G>A (p.Trp36Ter)
|
rs777383151
|
|
NM_000157.4(GBA1):c.10T>C (p.Ser4Pro)
|
rs2148083300
|
|
NM_000157.4(GBA1):c.1141T>G (p.Cys381Gly)
|
rs121908306
|
|
NM_000157.4(GBA1):c.1171G>C (p.Val391Leu)
|
rs398123527
|
|
NM_000157.4(GBA1):c.1174C>G (p.Arg392Gly)
|
rs121908308
|
|
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.1193G>A (p.Arg398Gln)
|
|
|
NM_000157.4(GBA1):c.1208G>C (p.Ser403Thr)
|
rs121908307
|
|
NM_000157.4(GBA1):c.1214G>A (p.Ser405Asn)
|
|
|
NM_000157.4(GBA1):c.1214G>C (p.Ser405Thr)
|
rs1392291885
|
|
NM_000157.4(GBA1):c.1215C>A (p.Ser405Arg)
|
|
|
NM_000157.4(GBA1):c.1226A>C (p.Asn409Thr)
|
rs76763715
|
|
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.1250G>A (p.Trp417Ter)
|
rs754743440
|
|
NM_000157.4(GBA1):c.1255G>A (p.Asp419Asn)
|
rs1671712475
|
|
NM_000157.4(GBA1):c.1259G>A (p.Trp420Ter)
|
rs1671711470
|
|
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs)
|
rs80356768
|
|
NM_000157.4(GBA1):c.1265_1320del (p.Leu422fs)
|
rs2148071537
|
|
NM_000157.4(GBA1):c.1271T>C (p.Leu424Pro)
|
rs772548282
|
|
NM_000157.4(GBA1):c.1279G>T (p.Glu427Ter)
|
rs149171124
|
|
NM_000157.4(GBA1):c.1289C>T (p.Pro430Leu)
|
rs76910485
|
|
NM_000157.4(GBA1):c.1296G>A (p.Trp432Ter)
|
rs1484043383
|
|
NM_000157.4(GBA1):c.1300C>T (p.Arg434Cys)
|
|
|
NM_000157.4(GBA1):c.1309G>T (p.Val437Phe)
|
rs121908310
|
|
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.1347G>C (p.Thr449=)
|
rs750193229
|
|
NM_000157.4(GBA1):c.1357C>T (p.Gln453Ter)
|
rs1557901325
|
|
NM_000157.4(GBA1):c.1361C>G (p.Pro454Arg)
|
rs121908295
|
|
NM_000157.4(GBA1):c.1388+2T>C
|
rs1571965880
|
|
NM_000157.4(GBA1):c.1388G>C (p.Ser463Thr)
|
rs1571965884
|
|
NM_000157.4(GBA1):c.1389-33del
|
rs1671680082
|
|
NM_000157.4(GBA1):c.1397T>G (p.Ile466Ser)
|
rs878853320
|
|
NM_000157.4(GBA1):c.1439_1445del (p.Lys480fs)
|
rs2148070579
|
|
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.1503C>G (p.Asn501Lys)
|
rs755265316
|
|
NM_000157.4(GBA1):c.1505+2T>A
|
rs2148070287
|
|
NM_000157.4(GBA1):c.1506-10_1506-9delinsGA
|
rs1557900564
|
|
NM_000157.4(GBA1):c.1506-1G>A
|
rs1571964338
|
|
NM_000157.4(GBA1):c.1548G>C (p.Val516=)
|
rs1671659716
|
|
NM_000157.4(GBA1):c.1549G>A (p.Gly517Ser)
|
rs121908301
|
|
NM_000157.4(GBA1):c.1566C>T (p.Ile522=)
|
rs1671657974
|
|
NM_000157.4(GBA1):c.1599G>A (p.Trp533Ter)
|
rs1671655923
|
|
NM_000157.4(GBA1):c.160G>T (p.Val54Leu)
|
rs121908302
|
|
NM_000157.4(GBA1):c.167T>A (p.Val56Asp)
|
rs878853318
|
|
NM_000157.4(GBA1):c.175G>A (p.Ala59Thr)
|
rs1671994799
|
|
NM_000157.4(GBA1):c.203del (p.Pro68fs)
|
rs1170895261
|
|
NM_000157.4(GBA1):c.203dup (p.Thr69fs)
|
rs1170895261
|
|
NM_000157.4(GBA1):c.254G>A (p.Gly85Glu)
|
rs77829017
|
|
NM_000157.4(GBA1):c.256C>T (p.Arg86Ter)
|
rs1671987417
|
|
NM_000157.4(GBA1):c.260G>A (p.Arg87Gln)
|
|
|
NM_000157.4(GBA1):c.334C>T (p.Gln112Ter)
|
rs1671974195
|
|
NM_000157.4(GBA1):c.354G>C (p.Lys118Asn)
|
rs121908312
|
|
NM_000157.4(GBA1):c.39del (p.Lys13fs)
|
|
|
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.431T>G (p.Leu144Arg)
|
rs794727708
|
|
NM_000157.4(GBA1):c.444del (p.Ser149fs)
|
|
|
NM_000157.4(GBA1):c.454+1G>A
|
rs539166948
|
|
NM_000157.4(GBA1):c.455-7T>C
|
rs1671901028
|
|
NM_000157.4(GBA1):c.481C>T (p.Pro161Ser)
|
rs121908299
|
|
NM_000157.4(GBA1):c.484A>G (p.Met162Val)
|
|
|
NM_000157.4(GBA1):c.485T>C (p.Met162Thr)
|
rs794727783
|
|
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.509G>T (p.Arg170Leu)
|
rs80356763
|
|
NM_000157.4(GBA1):c.521A>G (p.Tyr174Cys)
|
rs781152868
|
|
NM_000157.4(GBA1):c.526G>A (p.Asp176Asn)
|
rs1553217946
|
|
NM_000157.4(GBA1):c.533del (p.Pro178fs)
|
rs397518434
|
|
NM_000157.4(GBA1):c.538G>A (p.Asp180Asn)
|
|
|
NM_000157.4(GBA1):c.557del (p.Phe186fs)
|
rs1671890998
|
|
NM_000157.4(GBA1):c.586A>C (p.Lys196Gln)
|
rs121908297
|
|
NM_000157.4(GBA1):c.589-86A>G
|
rs2974923
|
|
NM_000157.4(GBA1):c.630del (p.Val211fs)
|
rs1553217879
|
|
NM_000157.4(GBA1):c.635C>G (p.Ser212Ter)
|
rs1671872221
|
|
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.706C>T (p.Leu236Phe)
|
rs1671865905
|
|
NM_000157.4(GBA1):c.730T>C (p.Tyr244His)
|
rs1671863930
|
|
NM_000157.4(GBA1):c.73del (p.Leu25fs)
|
rs397518433
|
|
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.776A>G (p.Tyr259Cys)
|
|
|
NM_000157.4(GBA1):c.835C>G (p.Leu279Val)
|
rs1057519020
|
|
NM_000157.4(GBA1):c.847T>C (p.Tyr283His)
|
|
|
NM_000157.4(GBA1):c.866G>C (p.Gly289Ala)
|
rs878853321
|
|
NM_000157.4(GBA1):c.870C>A (p.Phe290Leu)
|
rs121908313
|
|
NM_000157.4(GBA1):c.886C>T (p.Arg296Ter)
|
rs1553217626
|
|
NM_000157.4(GBA1):c.894C>A (p.Phe298Leu)
|
rs1671825414
|
|
NM_000157.4(GBA1):c.898G>A (p.Ala300Thr)
|
rs1671824775
|
|
NM_000157.4(GBA1):c.898del (p.Ala300fs)
|
rs2148075419
|
|
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_000179.3(MSH6):c.3822dup (p.Cys1275fs)
|
rs1553333346
|
|
NM_000543.5(SMPD1):c.106_107insCGCTGG (p.Leu35_Val36insAlaLeu)
|
rs1554933800
|
|
NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C]
|
|
|
NM_001005741.2(GBA1):c.[535G>C;c.1093G>A]
|
|
|
NM_001005741.2(GBA1):c.[880T>G;1342G>C]
|
|
|
NM_002778.4(PSAP):c.*113C>T
|
rs544214520
|
|
NM_002778.4(PSAP):c.*526G>A
|
rs1842177081
|
|
NM_002778.4(PSAP):c.*73C>T
|
rs541692197
|
|
NM_002778.4(PSAP):c.*859C>T
|
rs886047149
|
|
NM_002778.4(PSAP):c.1005+1G>A
|
rs113365744
|
|
NM_002778.4(PSAP):c.1012A>G (p.Ile338Val)
|
rs544300820
|
|
NM_002778.4(PSAP):c.1046T>C (p.Leu349Pro)
|
rs121918110
|
|
NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala)
|
rs765744298
|
|
NM_002778.4(PSAP):c.1144T>G (p.Cys382Gly)
|
rs121918108
|
|
NM_002778.4(PSAP):c.1145G>T (p.Cys382Phe)
|
rs121918105
|
|
NM_002778.4(PSAP):c.1261C>T (p.Arg421Cys)
|
rs529719024
|
|
NM_002778.4(PSAP):c.1278C>T (p.Asn426=)
|
rs777227555
|
|
NM_002778.4(PSAP):c.1288C>T (p.Gln430Ter)
|
rs121918109
|
|
NM_002778.4(PSAP):c.1329G>T (p.Leu443=)
|
rs1842249121
|
|
NM_002778.4(PSAP):c.1369G>T (p.Glu457Ter)
|
rs1554879741
|
|
NM_002778.4(PSAP):c.1A>T (p.Met1Leu)
|
rs121918106
|
|
NM_002778.4(PSAP):c.508C>G (p.Pro170Ala)
|
rs761637109
|
|
NM_002778.4(PSAP):c.570G>T (p.Gln190His)
|
rs142272618
|
|
NM_002778.4(PSAP):c.911A>G (p.Lys304Arg)
|
rs757553906
|
|
NM_003640.5(ELP1):c.3195G>A (p.Ala1065=)
|
rs758321016
|
|