NM_000391.4(TPP1):c.381-10dup
|
rs146315473
|
0.02726
|
NM_000520.6(HEXA):c.672+30T>G
|
rs117160567
|
0.01494
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
NM_000520.6(HEXA):c.1073+1G>A
|
rs76173977
|
0.00021
|
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)
|
rs1064651
|
0.00020
|
NM_000520.6(HEXA):c.459+5G>A
|
rs762060470
|
0.00009
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln)
|
rs121908686
|
0.00009
|
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)
|
rs80356771
|
0.00006
|
NM_000520.6(HEXA):c.1496G>A (p.Arg499His)
|
rs121907956
|
0.00004
|
NM_000487.6(ARSA):c.902G>A (p.Arg301Gln)
|
rs573456864
|
0.00003
|
NM_002778.4(PSAP):c.679_681del (p.Lys227del)
|
rs1431844269
|
0.00003
|
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu)
|
rs121908202
|
0.00002
|
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter)
|
rs761860059
|
0.00002
|
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys)
|
rs121907953
|
0.00002
|
NM_000521.4(HEXB):c.1417+5G>A
|
rs763517499
|
0.00002
|
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser)
|
rs150363441
|
0.00002
|
NM_000157.4(GBA1):c.1184C>T (p.Ser395Phe)
|
rs760307559
|
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.625C>T (p.Arg209Cys)
|
rs398123532
|
0.00001
|
NM_000391.4(TPP1):c.616C>T (p.Arg206Cys)
|
rs28940573
|
0.00001
|
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser)
|
rs74315461
|
0.00001
|
NM_000487.6(ARSA):c.433C>T (p.Arg145Ter)
|
rs199476373
|
0.00001
|
NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn)
|
rs759157781
|
0.00001
|
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys)
|
rs121907966
|
0.00001
|
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter)
|
rs786204585
|
0.00001
|
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)
|
rs786204721
|
0.00001
|
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)
|
rs121907972
|
0.00001
|
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln)
|
rs121907957
|
0.00001
|
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)
|
rs566580738
|
0.00001
|
NM_000520.6(HEXA):c.805+1G>C
|
rs121907980
|
0.00001
|
NM_000521.4(HEXB):c.841C>T (p.Arg281Ter)
|
rs138914144
|
0.00001
|
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter)
|
rs121907986
|
0.00001
|
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)
|
rs121908098
|
0.00001
|
NM_006946.4(SPTBN2):c.6736G>A (p.Val2246Met)
|
rs369469000
|
0.00001
|
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys)
|
rs746753722
|
0.00001
|
NM_031157.4(HNRNPA1):c.1099G>A (p.Gly367Ser)
|
rs772603507
|
0.00001
|
NC_000001.11:g.155208308_155208441del
|
|
|
NC_000015.10:g.72647900_72648958del
|
|
|
NM_000021.4(PSEN1):c.514TTG[1] (p.Leu174del)
|
rs1595026031
|
|
NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly)
|
rs1566641934
|
|
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)
|
rs387906494
|
|
NM_000033.4(ABCD1):c.651G>C (p.Lys217Asn)
|
rs864309520
|
|
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.1177C>G (p.Leu393Val)
|
rs878853315
|
|
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.1459G>A (p.Ala487Thr)
|
rs878853317
|
|
NM_000157.4(GBA1):c.160G>T (p.Val54Leu)
|
rs121908302
|
|
NM_000157.4(GBA1):c.260G>A (p.Arg87Gln)
|
|
|
NM_000157.4(GBA1):c.415G>C (p.Ala139Pro)
|
rs878853314
|
|
NM_000157.4(GBA1):c.444del (p.Ser149fs)
|
|
|
NM_000157.4(GBA1):c.44T>C (p.Leu15Ser)
|
|
|
NM_000157.4(GBA1):c.653G>A (p.Trp218Ter)
|
rs867929413
|
|
NM_000157.4(GBA1):c.866G>C (p.Gly289Ala)
|
rs878853321
|
|
NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu)
|
rs1564854760
|
|
NM_000391.4(TPP1):c.130G>T (p.Glu44Ter)
|
rs2134598107
|
|
NM_000391.4(TPP1):c.1376A>C (p.Tyr459Ser)
|
rs864309505
|
|
NM_000391.4(TPP1):c.1449dup (p.Ile484fs)
|
rs1057516264
|
|
NM_000391.4(TPP1):c.1626G>A (p.Trp542Ter)
|
rs2134590423
|
|
NM_000391.4(TPP1):c.184del (p.Ser62fs)
|
rs1554902217
|
|
NM_000391.4(TPP1):c.456G>C (p.Arg152Ser)
|
rs869025274
|
|
NM_000391.4(TPP1):c.457_490del (p.Ser153fs)
|
rs878855331
|
|
NM_000391.4(TPP1):c.471C>A (p.Tyr157Ter)
|
rs553522118
|
|
NM_000391.4(TPP1):c.689del (p.Phe230fs)
|
rs1554901898
|
|
NM_000484.4(APP):c.2155A>C (p.Thr719Pro)
|
rs2146237857
|
|
NM_000487.6(ARSA):c.1030del (p.Ala344fs)
|
|
|
NM_000487.6(ARSA):c.374A>C (p.Lys125Thr)
|
|
|
NM_000487.6(ARSA):c.582del (p.Trp195fs)
|
rs2082680996
|
|
NM_000487.6(ARSA):c.620C>A (p.Ala207Asp)
|
rs759098239
|
|
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg)
|
rs74315471
|
|
NM_000487.6(ARSA):c.891_895del (p.Gly298fs)
|
|
|
NM_000487.6(ARSA):c.917C>T (p.Thr306Met)
|
rs199476359
|
|
NM_000520.6(HEXA):c.110dup (p.Tyr37Ter)
|
|
|
NM_000520.6(HEXA):c.1121A>C (p.Gln374Pro)
|
rs1057519464
|
|
NM_000520.6(HEXA):c.1178G>C (p.Arg393Pro)
|
rs370266293
|
|
NM_000520.6(HEXA):c.1259G>A (p.Trp420Ter)
|
rs1057519465
|
|
NM_000520.6(HEXA):c.1349del (p.Ala450fs)
|
rs1057519466
|
|
NM_000520.6(HEXA):c.1360G>C (p.Gly454Arg)
|
rs121907978
|
|
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter)
|
rs762374961
|
|
NM_000520.6(HEXA):c.1432G>A (p.Gly478Arg)
|
rs1057519467
|
|
NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter)
|
rs1057519468
|
|
NM_000520.6(HEXA):c.161C>T (p.Ala54Val)
|
|
|
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter)
|
rs773446161
|
|
NM_000520.6(HEXA):c.340G>A (p.Glu114Lys)
|
rs748190164
|
|
NM_000520.6(HEXA):c.426del (p.Phe142fs)
|
rs1057519458
|
|
NM_000520.6(HEXA):c.459+4A>C
|
rs1057519459
|
|
NM_000520.6(HEXA):c.460-1G>A
|
rs764343937
|
|
NM_000520.6(HEXA):c.524A>C (p.Asp175Ala)
|
rs1057519460
|
|
NM_000520.6(HEXA):c.616G>C (p.Val206Leu)
|
rs543071358
|
|
NM_000520.6(HEXA):c.637T>C (p.Tyr213His)
|
rs1057519461
|
|
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter)
|
rs150675340
|
|
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile)
|
rs1057519462
|
|
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg)
|
rs121907954
|
|
NM_000520.6(HEXA):c.898_905del (p.Phe300fs)
|
rs1057519463
|
|
NM_000520.6(HEXA):c.902T>G (p.Met301Arg)
|
rs121907977
|
|
NM_000520.6(HEXA):c.964G>A (p.Asp322Asn)
|
rs772180415
|
|
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr)
|
rs772180415
|
|
NM_000521.4(HEXB):c.298C>T (p.Arg100Ter)
|
rs1007338250
|
|
NM_000521.4(HEXB):c.333G>A (p.Trp111Ter)
|
rs761117459
|
|
NM_000521.4(HEXB):c.445+1G>C
|
rs761197472
|
|
NM_001080414.4(CCDC88C):c.6035C>T (p.Pro2012Leu)
|
rs771028975
|
|
NM_001080414.4(CCDC88C):c.739G>A (p.Glu247Lys)
|
|
|
NM_001378969.1(KCND3):c.257G>A (p.Arg86Gln)
|
rs1571941606
|
|
NM_001386393.1(PANK2):c.*40G>C
|
rs1131692166
|
|
NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter)
|
rs137852960
|
|
NM_001386393.1(PANK2):c.425T>G (p.Leu142Arg)
|
rs2146859529
|
|
NM_002778.4(PSAP):c.593G>A (p.Cys198Tyr)
|
|
|
NM_002778.4(PSAP):c.688T>G (p.Cys230Gly)
|
|
|
NM_004977.3(KCNC3):c.1850C>T (p.Pro617Leu)
|
rs1284948650
|
|
NM_006946.4(SPTBN2):c.7040G>A (p.Arg2347Gln)
|
|
|
NM_015215.4(CAMTA1):c.550G>A (p.Ala184Thr)
|
|
|
NM_022089.4(ATP13A2):c.859G>A (p.Asp287Asn)
|
rs764560082
|
|
NM_031448.6(C19orf12):c.244C>A (p.Pro82Thr)
|
|
|
NM_031448.6(C19orf12):c.332T>C (p.Val111Ala)
|
rs1972173461
|
|
NM_031448.6(C19orf12):c.415T>C (p.Tyr139His)
|
|
|
NM_031448.6(C19orf12):c.46T>C (p.Ser16Pro)
|
rs1568332606
|
|
NM_033305.3(VPS13A):c.555+1G>A
|
rs1590003601
|
|