NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)
|
rs138976576
|
0.00133
|
NM_000520.6(HEXA):c.69C>G (p.Leu23=)
|
rs143554538
|
0.00107
|
NM_000784.4(CYP27A1):c.646+4C>T
|
rs191313794
|
0.00105
|
NM_000520.6(HEXA):c.1107C>T (p.Gly369=)
|
rs140337137
|
0.00100
|
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly)
|
rs148064565
|
0.00088
|
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys)
|
rs149897566
|
0.00083
|
NM_001042432.2(CLN3):c.238A>T (p.Thr80Ser)
|
rs150348015
|
0.00074
|
NM_018941.4(CLN8):c.513C>G (p.Pro171=)
|
rs376910635
|
0.00073
|
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu)
|
rs146579299
|
0.00068
|
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile)
|
rs146798796
|
0.00051
|
NM_000521.4(HEXB):c.715G>A (p.Val239Ile)
|
rs145056714
|
0.00051
|
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp)
|
rs138448968
|
0.00041
|
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg)
|
rs149529997
|
0.00034
|
NM_000391.4(TPP1):c.1307T>C (p.Leu436Pro)
|
rs150039898
|
0.00031
|
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr)
|
rs374524755
|
0.00031
|
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu)
|
rs137906617
|
0.00029
|
NM_000391.4(TPP1):c.776G>A (p.Arg259His)
|
rs140176031
|
0.00027
|
NM_000391.4(TPP1):c.319G>A (p.Gly107Arg)
|
rs201613668
|
0.00026
|
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile)
|
rs142163063
|
0.00025
|
NM_018941.4(CLN8):c.112G>A (p.Val38Ile)
|
rs370199508
|
0.00024
|
NM_000391.4(TPP1):c.1252C>T (p.Arg418Trp)
|
rs143584882
|
0.00021
|
NM_018941.4(CLN8):c.619C>G (p.Leu207Val)
|
rs151334741
|
0.00020
|
NM_006493.4(CLN5):c.565+3_565+4dup
|
rs745312608
|
0.00019
|
NM_018941.4(CLN8):c.50A>G (p.Asp17Gly)
|
rs148668081
|
0.00019
|
NM_000520.6(HEXA):c.545C>T (p.Pro182Leu)
|
rs148511084
|
0.00018
|
NM_000520.6(HEXA):c.582G>A (p.Ala194=)
|
rs112614306
|
0.00016
|
NM_000521.4(HEXB):c.1670A>G (p.Ter557=)
|
rs576145664
|
0.00016
|
NM_000784.4(CYP27A1):c.1017+5G>A
|
rs370304209
|
0.00016
|
NM_000784.4(CYP27A1):c.1343G>A (p.Arg448His)
|
rs370868184
|
0.00016
|
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=)
|
rs142623022
|
0.00016
|
NM_000520.6(HEXA):c.1229C>T (p.Ala410Val)
|
rs151251788
|
0.00015
|
NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln)
|
rs138189735
|
0.00014
|
NM_000391.4(TPP1):c.1328A>G (p.Asn443Ser)
|
rs139343938
|
0.00013
|
NM_018941.4(CLN8):c.200C>T (p.Ala67Val)
|
rs373957283
|
0.00013
|
NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln)
|
rs370266293
|
0.00012
|
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser)
|
rs369117208
|
0.00012
|
NM_000391.4(TPP1):c.1653C>G (p.Pro551=)
|
rs372564255
|
0.00011
|
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro)
|
rs146938346
|
0.00011
|
NM_000520.6(HEXA):c.548T>A (p.Leu183His)
|
rs185797496
|
0.00011
|
NM_000520.6(HEXA):c.836C>G (p.Ser279Cys)
|
rs148199798
|
0.00011
|
NM_000784.4(CYP27A1):c.355C>T (p.Arg119Trp)
|
rs369294392
|
0.00011
|
NM_001042432.2(CLN3):c.49G>A (p.Glu17Lys)
|
rs386833726
|
0.00011
|
NM_018941.4(CLN8):c.599T>C (p.Met200Thr)
|
rs368646951
|
0.00011
|
NM_000520.6(HEXA):c.581C>T (p.Ala194Val)
|
rs778947516
|
0.00010
|
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=)
|
rs200553205
|
0.00010
|
NM_018941.4(CLN8):c.53A>T (p.Tyr18Phe)
|
rs142104002
|
0.00010
|
NM_018941.4(CLN8):c.59C>G (p.Ser20Cys)
|
rs749651452
|
0.00010
|
NM_018941.4(CLN8):c.725C>T (p.Thr242Met)
|
rs138821993
|
0.00010
|
NM_018941.4(CLN8):c.776A>G (p.Asn259Ser)
|
rs201956727
|
0.00010
|
NM_000520.6(HEXA):c.855C>T (p.Gly285=)
|
rs768518776
|
0.00008
|
NM_000784.4(CYP27A1):c.1297C>T (p.Arg433Trp)
|
rs143002163
|
0.00008
|
NM_006493.4(CLN5):c.-47C>G
|
rs937545860
|
0.00008
|
NM_018941.4(CLN8):c.300G>A (p.Gln100=)
|
rs148988002
|
0.00008
|
NM_018941.4(CLN8):c.796G>A (p.Ala266Thr)
|
rs766292710
|
0.00008
|
NM_000391.4(TPP1):c.947C>A (p.Ala316Asp)
|
rs149463616
|
0.00007
|
NM_000520.6(HEXA):c.102C>T (p.Asp34=)
|
rs377310315
|
0.00007
|
NM_000520.6(HEXA):c.1073C>T (p.Thr358Met)
|
rs552505619
|
0.00007
|
NM_000520.6(HEXA):c.1164C>G (p.Ile388Met)
|
rs760153692
|
0.00007
|
NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys)
|
rs147502219
|
0.00007
|
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=)
|
rs371636461
|
0.00007
|
NM_001042432.2(CLN3):c.291G>A (p.Thr97=)
|
rs367945307
|
0.00007
|
NM_000391.4(TPP1):c.313G>T (p.Ala105Ser)
|
rs368435226
|
0.00006
|
NM_000391.4(TPP1):c.323C>T (p.Ala108Val)
|
rs374132017
|
0.00006
|
NM_000391.4(TPP1):c.437C>T (p.Thr146Met)
|
rs748686068
|
0.00006
|
NM_000391.4(TPP1):c.523C>T (p.Arg175Cys)
|
rs750241218
|
0.00006
|
NM_000391.4(TPP1):c.665A>G (p.Asn222Ser)
|
rs372787642
|
0.00006
|
NM_000784.4(CYP27A1):c.425T>C (p.Leu142Pro)
|
rs369363177
|
0.00006
|
NM_000784.4(CYP27A1):c.83A>C (p.Lys28Thr)
|
rs371449777
|
0.00006
|
NM_001042432.2(CLN3):c.222T>C (p.His74=)
|
rs201225986
|
0.00006
|
NM_006493.4(CLN5):c.662G>A (p.Gly221Glu)
|
rs368428437
|
0.00006
|
NM_018941.4(CLN8):c.287C>T (p.Ala96Val)
|
rs775400768
|
0.00006
|
NM_000391.4(TPP1):c.1425G>A (p.Ser475=)
|
rs779333902
|
0.00005
|
NM_000391.4(TPP1):c.1490G>A (p.Arg497His)
|
rs549928656
|
0.00005
|
NM_000391.4(TPP1):c.1664C>A (p.Ala555Asp)
|
rs200880556
|
0.00005
|
NM_000391.4(TPP1):c.807C>T (p.Ala269=)
|
rs148222726
|
0.00005
|
NM_000521.4(HEXB):c.1572C>T (p.Asp524=)
|
rs770560389
|
0.00005
|
NM_000784.4(CYP27A1):c.472C>T (p.Arg158Cys)
|
rs774541162
|
0.00005
|
NM_001042432.2(CLN3):c.1158C>T (p.Gly386=)
|
rs145340637
|
0.00005
|
NM_000391.4(TPP1):c.1003G>A (p.Ala335Thr)
|
rs146927291
|
0.00004
|
NM_000391.4(TPP1):c.1045G>A (p.Ala349Thr)
|
rs1085307673
|
0.00004
|
NM_000391.4(TPP1):c.138G>T (p.Glu46Asp)
|
rs778900807
|
0.00004
|
NM_000391.4(TPP1):c.1489C>T (p.Arg497Cys)
|
rs377700188
|
0.00004
|
NM_000391.4(TPP1):c.249G>T (p.Glu83Asp)
|
rs771113565
|
0.00004
|
NM_000391.4(TPP1):c.438G>A (p.Thr146=)
|
rs777339172
|
0.00004
|
NM_000391.4(TPP1):c.563C>T (p.Pro188Leu)
|
rs550590502
|
0.00004
|
NM_000391.4(TPP1):c.770T>C (p.Val257Ala)
|
rs763009524
|
0.00004
|
NM_000391.4(TPP1):c.797G>A (p.Arg266Gln)
|
rs757953998
|
0.00004
|
NM_000391.4(TPP1):c.889C>T (p.Arg297Trp)
|
rs553122824
|
0.00004
|
NM_000521.4(HEXB):c.1243-6T>C
|
rs759404927
|
0.00004
|
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser)
|
rs121907982
|
0.00004
|
NM_000521.4(HEXB):c.672T>C (p.Asp224=)
|
rs761223179
|
0.00004
|
NM_000784.4(CYP27A1):c.613A>G (p.Met205Val)
|
rs147321244
|
0.00004
|
NM_001042432.2(CLN3):c.1168G>A (p.Val390Met)
|
rs777383109
|
0.00004
|
NM_001042432.2(CLN3):c.125+3G>A
|
rs775577824
|
0.00004
|
NM_006493.4(CLN5):c.1A>T (p.Met1Leu)
|
rs371624826
|
0.00004
|
NM_006493.4(CLN5):c.486C>T (p.Gly162=)
|
rs769007858
|
0.00004
|
NM_018941.4(CLN8):c.108G>C (p.Leu36Phe)
|
rs746677418
|
0.00004
|
NM_018941.4(CLN8):c.332C>T (p.Thr111Met)
|
rs778188757
|
0.00004
|
NM_018941.4(CLN8):c.385C>T (p.Arg129Trp)
|
rs143694317
|
0.00004
|
NM_018941.4(CLN8):c.386G>A (p.Arg129Gln)
|
rs571617007
|
0.00004
|
NM_018941.4(CLN8):c.523G>A (p.Val175Ile)
|
rs768139689
|
0.00004
|
NM_018941.4(CLN8):c.545C>T (p.Ala182Val)
|
rs541994118
|
0.00004
|
NM_018941.4(CLN8):c.556G>A (p.Glu186Lys)
|
rs756636772
|
0.00004
|
NM_018941.4(CLN8):c.661G>A (p.Gly221Ser)
|
rs386834136
|
0.00004
|
NM_000391.4(TPP1):c.1116C>G (p.His372Gln)
|
rs751321300
|
0.00003
|
NM_000391.4(TPP1):c.1217A>G (p.Tyr406Cys)
|
rs780670020
|
0.00003
|
NM_000391.4(TPP1):c.1466A>G (p.Asn489Ser)
|
rs751645191
|
0.00003
|
NM_000391.4(TPP1):c.1495C>G (p.Pro499Ala)
|
rs201126448
|
0.00003
|
NM_000391.4(TPP1):c.1551+5G>A
|
rs778756815
|
0.00003
|
NM_000391.4(TPP1):c.1559G>A (p.Arg520His)
|
rs368697480
|
0.00003
|
NM_000391.4(TPP1):c.78C>A (p.Asp26Glu)
|
rs760252179
|
0.00003
|
NM_000391.4(TPP1):c.803G>A (p.Arg268Gln)
|
rs141920079
|
0.00003
|
NM_000520.6(HEXA):c.640G>A (p.Glu214Lys)
|
rs1227959449
|
0.00003
|
NM_000521.4(HEXB):c.1478T>G (p.Val493Gly)
|
rs794727049
|
0.00003
|
NM_000784.4(CYP27A1):c.1055C>T (p.Ser352Leu)
|
rs780927834
|
0.00003
|
NM_000784.4(CYP27A1):c.1148T>A (p.Met383Lys)
|
rs539356203
|
0.00003
|
NM_001042432.2(CLN3):c.1086C>G (p.Asp362Glu)
|
rs376907245
|
0.00003
|
NM_001042432.2(CLN3):c.1203T>A (p.Ser401Arg)
|
rs764585366
|
0.00003
|
NM_001042432.2(CLN3):c.1262C>T (p.Ser421Phe)
|
rs778225078
|
0.00003
|
NM_006493.4(CLN5):c.-141C>T
|
rs759859373
|
0.00003
|
NM_006493.4(CLN5):c.-14C>T
|
rs768714949
|
0.00003
|
NM_006493.4(CLN5):c.-78G>T
|
rs540811599
|
0.00003
|
NM_006493.4(CLN5):c.420A>G (p.Gln140=)
|
rs753732321
|
0.00003
|
NM_006493.4(CLN5):c.572T>C (p.Met191Thr)
|
rs771119692
|
0.00003
|
NM_006493.4(CLN5):c.78G>T (p.Trp26Cys)
|
rs104894385
|
0.00003
|
NM_006493.4(CLN5):c.80G>A (p.Cys27Tyr)
|
rs796052344
|
0.00003
|
NM_006493.4(CLN5):c.869G>T (p.Arg290Ile)
|
rs770688728
|
0.00003
|
NM_018941.4(CLN8):c.206C>T (p.Thr69Met)
|
rs776409703
|
0.00003
|
NM_018941.4(CLN8):c.266C>G (p.Pro89Arg)
|
rs919541697
|
0.00003
|
NM_018941.4(CLN8):c.288G>A (p.Ala96=)
|
rs533351136
|
0.00003
|
NM_018941.4(CLN8):c.582G>A (p.Gln194=)
|
rs139824802
|
0.00003
|
NM_018941.4(CLN8):c.585G>C (p.Trp195Cys)
|
rs778435359
|
0.00003
|
NM_018941.4(CLN8):c.697C>G (p.Leu233Val)
|
rs1380901432
|
0.00003
|
NM_018941.4(CLN8):c.94T>C (p.Phe32Leu)
|
rs758068226
|
0.00003
|
NM_000391.4(TPP1):c.1090G>A (p.Gly364Arg)
|
rs756237773
|
0.00002
|
NM_000391.4(TPP1):c.1451T>C (p.Ile484Thr)
|
rs748533410
|
0.00002
|
NM_000391.4(TPP1):c.1663G>A (p.Ala555Thr)
|
rs1421089514
|
0.00002
|
NM_000391.4(TPP1):c.425T>G (p.Val142Gly)
|
rs775217501
|
0.00002
|
NM_000391.4(TPP1):c.638C>T (p.Ser213Leu)
|
rs773546205
|
0.00002
|
NM_000391.4(TPP1):c.782T>C (p.Val261Ala)
|
rs146136938
|
0.00002
|
NM_000391.4(TPP1):c.79C>G (p.Gln27Glu)
|
rs775155638
|
0.00002
|
NM_000391.4(TPP1):c.83G>A (p.Arg28Gln)
|
rs369126677
|
0.00002
|
NM_000391.4(TPP1):c.890G>A (p.Arg297Gln)
|
rs796053441
|
0.00002
|
NM_000391.4(TPP1):c.90-3C>T
|
rs767078570
|
0.00002
|
NM_000391.4(TPP1):c.956A>G (p.His319Arg)
|
rs745310554
|
0.00002
|
NM_000391.4(TPP1):c.965C>T (p.Thr322Ile)
|
rs773946638
|
0.00002
|
NM_000520.6(HEXA):c.259C>T (p.Arg87Trp)
|
rs573269641
|
0.00002
|
NM_000520.6(HEXA):c.497G>A (p.Arg166His)
|
rs398123442
|
0.00002
|
NM_000520.6(HEXA):c.906C>T (p.Ser302=)
|
rs765612435
|
0.00002
|
NM_000521.4(HEXB):c.1040A>T (p.Gln347Leu)
|
rs754108567
|
0.00002
|
NM_000784.4(CYP27A1):c.1494G>C (p.Lys498Asn)
|
rs377290147
|
0.00002
|
NM_000784.4(CYP27A1):c.518T>C (p.Leu173Pro)
|
rs1378044084
|
0.00002
|
NM_000784.4(CYP27A1):c.919G>T (p.Val307Leu)
|
rs779794737
|
0.00002
|
NM_001042432.2(CLN3):c.1186A>G (p.Ile396Val)
|
rs781253826
|
0.00002
|
NM_006493.4(CLN5):c.-84C>A
|
rs558597827
|
0.00002
|
NM_006493.4(CLN5):c.339+5G>C
|
rs202146713
|
0.00002
|
NM_006493.4(CLN5):c.339+6G>A
|
rs1468101
|
0.00002
|
NM_006493.4(CLN5):c.526A>G (p.Lys176Glu)
|
rs142870036
|
0.00002
|
NM_018941.4(CLN8):c.161G>A (p.Arg54His)
|
rs372268977
|
0.00002
|
NM_018941.4(CLN8):c.284A>G (p.Lys95Arg)
|
rs1432496931
|
0.00002
|
NM_018941.4(CLN8):c.289C>T (p.Arg97Cys)
|
rs1285178214
|
0.00002
|
NM_018941.4(CLN8):c.411C>G (p.Ile137Met)
|
rs147224140
|
0.00002
|
NM_018941.4(CLN8):c.598A>G (p.Met200Val)
|
rs749595247
|
0.00002
|
NM_018941.4(CLN8):c.823G>C (p.Glu275Gln)
|
rs749774943
|
0.00002
|
NM_018941.4(CLN8):c.837G>T (p.Gln279His)
|
rs774442159
|
0.00002
|
NM_000391.4(TPP1):c.1034T>C (p.Met345Thr)
|
rs764077257
|
0.00001
|
NM_000391.4(TPP1):c.1049G>A (p.Arg350Gln)
|
rs199866669
|
0.00001
|
NM_000391.4(TPP1):c.1069G>C (p.Ala357Pro)
|
rs1266615275
|
0.00001
|
NM_000391.4(TPP1):c.1123C>T (p.Arg375Cys)
|
rs368914445
|
0.00001
|
NM_000391.4(TPP1):c.1138G>A (p.Ala380Thr)
|
rs190013230
|
0.00001
|
NM_000391.4(TPP1):c.118C>T (p.Arg40Cys)
|
rs794727482
|
0.00001
|
NM_000391.4(TPP1):c.1192C>T (p.Leu398Phe)
|
rs149319579
|
0.00001
|
NM_000391.4(TPP1):c.119G>A (p.Arg40His)
|
rs549309216
|
0.00001
|
NM_000391.4(TPP1):c.1266+4C>T
|
rs777551142
|
0.00001
|
NM_000391.4(TPP1):c.1289T>A (p.Leu430Gln)
|
rs780656523
|
0.00001
|
NM_000391.4(TPP1):c.1339C>T (p.Arg447Cys)
|
rs1035033641
|
0.00001
|
NM_000391.4(TPP1):c.1381G>T (p.Val461Leu)
|
rs1300168808
|
0.00001
|
NM_000391.4(TPP1):c.1435C>G (p.Pro479Ala)
|
rs756530648
|
0.00001
|
NM_000391.4(TPP1):c.1443T>G (p.Phe481Leu)
|
rs1245220130
|
0.00001
|
NM_000391.4(TPP1):c.1543C>T (p.Leu515Phe)
|
rs748345018
|
0.00001
|
NM_000391.4(TPP1):c.1582G>A (p.Asp528Asn)
|
rs375364589
|
0.00001
|
NM_000391.4(TPP1):c.1613C>G (p.Ser538Cys)
|
rs755878872
|
0.00001
|
NM_000391.4(TPP1):c.163C>G (p.Gln55Glu)
|
rs1315730321
|
0.00001
|
NM_000391.4(TPP1):c.197A>T (p.Gln66Leu)
|
rs751088292
|
0.00001
|
NM_000391.4(TPP1):c.202G>A (p.Val68Met)
|
rs776937435
|
0.00001
|
NM_000391.4(TPP1):c.209A>G (p.Asp70Gly)
|
rs775780584
|
0.00001
|
NM_000391.4(TPP1):c.230-8C>A
|
rs537703785
|
0.00001
|
NM_000391.4(TPP1):c.284C>G (p.Thr95Ser)
|
rs535584300
|
0.00001
|
NM_000391.4(TPP1):c.294G>A (p.Thr98=)
|
rs141417655
|
0.00001
|
NM_000391.4(TPP1):c.37C>T (p.Leu13Phe)
|
rs796053445
|
0.00001
|
NM_000391.4(TPP1):c.473A>C (p.Gln158Pro)
|
rs757507462
|
0.00001
|
NM_000391.4(TPP1):c.508+10A>G
|
rs765877652
|
0.00001
|
NM_000391.4(TPP1):c.511G>C (p.Gly171Arg)
|
rs994636765
|
0.00001
|
NM_000391.4(TPP1):c.51C>G (p.Gly17=)
|
rs755019471
|
0.00001
|
NM_000391.4(TPP1):c.524G>A (p.Arg175His)
|
rs764922748
|
0.00001
|
NM_000391.4(TPP1):c.593T>C (p.Leu198Pro)
|
rs1481131397
|
0.00001
|
NM_000391.4(TPP1):c.687+6C>T
|
rs768924191
|
0.00001
|
NM_000391.4(TPP1):c.734G>A (p.Arg245His)
|
rs754161261
|
0.00001
|
NM_000391.4(TPP1):c.775C>T (p.Arg259Cys)
|
rs748038934
|
0.00001
|
NM_000391.4(TPP1):c.802C>T (p.Arg268Trp)
|
rs778410642
|
0.00001
|
NM_000391.4(TPP1):c.812T>C (p.Ile271Thr)
|
rs766541487
|
0.00001
|
NM_000391.4(TPP1):c.968T>C (p.Val323Ala)
|
rs770155767
|
0.00001
|
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser)
|
rs775322979
|
0.00001
|
NM_000520.6(HEXA):c.1264C>G (p.Leu422Val)
|
rs774562271
|
0.00001
|
NM_000520.6(HEXA):c.1271G>A (p.Arg424His)
|
rs535095877
|
0.00001
|
NM_000520.6(HEXA):c.134A>C (p.Gln45Pro)
|
rs144089645
|
0.00001
|
NM_000520.6(HEXA):c.1476C>G (p.Asp492Glu)
|
rs1185080097
|
0.00001
|
NM_000520.6(HEXA):c.1529G>A (p.Arg510Gln)
|
rs745432499
|
0.00001
|
NM_000520.6(HEXA):c.197A>G (p.Gln66Arg)
|
rs753442808
|
0.00001
|
NM_000520.6(HEXA):c.32T>C (p.Leu11Pro)
|
rs141120074
|
0.00001
|
NM_000520.6(HEXA):c.345T>G (p.Asn115Lys)
|
rs774220090
|
0.00001
|
NM_000520.6(HEXA):c.347A>T (p.Tyr116Phe)
|
rs1282031681
|
0.00001
|
NM_000520.6(HEXA):c.373T>G (p.Cys125Gly)
|
rs1365750130
|
0.00001
|
NM_000520.6(HEXA):c.410G>A (p.Arg137Gln)
|
rs769724246
|
0.00001
|
NM_000520.6(HEXA):c.55C>T (p.Arg19Trp)
|
rs1166889033
|
0.00001
|
NM_000520.6(HEXA):c.574G>A (p.Val192Ile)
|
rs387906310
|
0.00001
|
NM_000520.6(HEXA):c.587A>G (p.Asn196Ser)
|
rs753862880
|
0.00001
|
NM_000521.4(HEXB):c.1045A>G (p.Ile349Val)
|
rs373731814
|
0.00001
|
NM_000521.4(HEXB):c.14G>A (p.Gly5Glu)
|
rs1400667054
|
0.00001
|
NM_000521.4(HEXB):c.1614-16_1622dup
|
rs756912360
|
0.00001
|
NM_000521.4(HEXB):c.1625C>T (p.Ala542Val)
|
rs767663018
|
0.00001
|
NM_000521.4(HEXB):c.1655A>G (p.Asn552Ser)
|
rs763927371
|
0.00001
|
NM_000521.4(HEXB):c.509G>A (p.Arg170Gln)
|
rs759538325
|
0.00001
|
NM_000521.4(HEXB):c.59C>A (p.Ala20Glu)
|
rs865822685
|
0.00001
|
NM_000521.4(HEXB):c.786G>T (p.Leu262Phe)
|
rs867255937
|
0.00001
|
NM_000784.4(CYP27A1):c.1059G>T (p.Lys353Asn)
|
rs372343607
|
0.00001
|
NM_000784.4(CYP27A1):c.1195G>T (p.Val399Leu)
|
rs1453048118
|
0.00001
|
NM_000784.4(CYP27A1):c.1309G>T (p.Ala437Ser)
|
rs1337764272
|
0.00001
|
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=)
|
rs886656814
|
0.00001
|
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)
|
rs560108684
|
0.00001
|
NM_000784.4(CYP27A1):c.1541T>C (p.Ile514Thr)
|
rs370013480
|
0.00001
|
NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly)
|
rs748325824
|
0.00001
|
NM_001042432.2(CLN3):c.1132A>G (p.Ile378Val)
|
rs147658282
|
0.00001
|
NM_001042432.2(CLN3):c.782C>T (p.Ser261Leu)
|
rs199627744
|
0.00001
|
NM_006493.4(CLN5):c.-113G>T
|
rs1465531119
|
0.00001
|
NM_006493.4(CLN5):c.-11G>C
|
rs774598730
|
0.00001
|
NM_006493.4(CLN5):c.-74T>C
|
rs1182554801
|
0.00001
|
NM_006493.4(CLN5):c.-86C>T
|
rs988786332
|
0.00001
|
NM_006493.4(CLN5):c.13G>A (p.Val5Ile)
|
rs1064795659
|
0.00001
|
NM_006493.4(CLN5):c.148C>T (p.Arg50Trp)
|
rs763892391
|
0.00001
|
NM_006493.4(CLN5):c.151C>A (p.Arg51Ser)
|
rs374080049
|
0.00001
|
NM_006493.4(CLN5):c.247A>G (p.Ile83Val)
|
rs750283603
|
0.00001
|
NM_006493.4(CLN5):c.296C>T (p.Ala99Val)
|
rs143759121
|
0.00001
|
NM_006493.4(CLN5):c.323A>C (p.Asp108Ala)
|
rs368672718
|
0.00001
|
NM_006493.4(CLN5):c.467C>T (p.Pro156Leu)
|
rs780802058
|
0.00001
|
NM_006493.4(CLN5):c.61C>T (p.Arg21Trp)
|
rs376454715
|
0.00001
|
NM_006493.4(CLN5):c.755T>C (p.Ile252Thr)
|
rs1439976492
|
0.00001
|
NM_006493.4(CLN5):c.773G>A (p.Arg258Lys)
|
rs376675270
|
0.00001
|
NM_006493.4(CLN5):c.904A>G (p.Lys302Glu)
|
rs1060502320
|
0.00001
|
NM_018941.4(CLN8):c.117T>G (p.Phe39Leu)
|
rs201670636
|
0.00001
|
NM_018941.4(CLN8):c.140C>T (p.Ser47Phe)
|
rs765158624
|
0.00001
|
NM_018941.4(CLN8):c.160C>T (p.Arg54Cys)
|
rs769069643
|
0.00001
|
NM_018941.4(CLN8):c.16G>T (p.Asp6Tyr)
|
rs200999640
|
0.00001
|
NM_018941.4(CLN8):c.17A>G (p.Asp6Gly)
|
rs536738656
|
0.00001
|
NM_018941.4(CLN8):c.256C>T (p.Leu86=)
|
rs755248868
|
0.00001
|
NM_018941.4(CLN8):c.323C>T (p.Thr108Met)
|
rs143701028
|
0.00001
|
NM_018941.4(CLN8):c.406G>T (p.Val136Phe)
|
rs187297173
|
0.00001
|
NM_018941.4(CLN8):c.611G>A (p.Arg204His)
|
rs386834134
|
0.00001
|
NM_018941.4(CLN8):c.614T>C (p.Met205Thr)
|
rs763967636
|
0.00001
|
NM_018941.4(CLN8):c.716C>T (p.Ala239Val)
|
rs913988013
|
0.00001
|
NM_018941.4(CLN8):c.832G>A (p.Gly278Arg)
|
rs1358513612
|
0.00001
|
NM_018941.4(CLN8):c.845G>A (p.Arg282Gln)
|
rs766172825
|
0.00001
|
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp)
|
rs1554901784
|
|
NM_000391.4(TPP1):c.1075+5C>T
|
rs1242288949
|
|
NM_000391.4(TPP1):c.1145G>C (p.Ser382Thr)
|
rs761448855
|
|
NM_000391.4(TPP1):c.11A>T (p.Gln4Leu)
|
rs567523850
|
|
NM_000391.4(TPP1):c.1300C>T (p.Pro434Ser)
|
rs1420637772
|
|
NM_000391.4(TPP1):c.1303C>G (p.His435Asp)
|
rs755829911
|
|
NM_000391.4(TPP1):c.1351G>T (p.Asp451Tyr)
|
rs1589947644
|
|
NM_000391.4(TPP1):c.1434T>C (p.Thr478=)
|
rs1855555887
|
|
NM_000391.4(TPP1):c.1495C>A (p.Pro499Thr)
|
rs201126448
|
|
NM_000391.4(TPP1):c.1496C>G (p.Pro499Arg)
|
rs773707856
|
|
NM_000391.4(TPP1):c.1496C>T (p.Pro499Leu)
|
rs773707856
|
|
NM_000391.4(TPP1):c.1558C>T (p.Arg520Cys)
|
rs371204585
|
|
NM_000391.4(TPP1):c.1570G>A (p.Glu524Lys)
|
rs1157546558
|
|
NM_000391.4(TPP1):c.1610G>A (p.Cys537Tyr)
|
rs777744177
|
|
NM_000391.4(TPP1):c.17G>C (p.Cys6Ser)
|
rs1589949717
|
|
NM_000391.4(TPP1):c.18-5T>C
|
rs1855634037
|
|
NM_000391.4(TPP1):c.18-7C>T
|
rs1855634111
|
|
NM_000391.4(TPP1):c.35C>T (p.Ala12Val)
|
rs1855633689
|
|
NM_000391.4(TPP1):c.497A>T (p.His166Leu)
|
rs796053437
|
|
NM_000391.4(TPP1):c.509-8C>A
|
rs771299096
|
|
NM_000391.4(TPP1):c.514G>A (p.Gly172Arg)
|
rs1368354280
|
|
NM_000391.4(TPP1):c.532C>G (p.Pro178Ala)
|
rs149986601
|
|
NM_000391.4(TPP1):c.535A>T (p.Thr179Ser)
|
rs1488047336
|
|
NM_000391.4(TPP1):c.65G>A (p.Ser22Asn)
|
rs202025584
|
|
NM_000391.4(TPP1):c.694G>A (p.Glu232Lys)
|
rs1326646704
|
|
NM_000391.4(TPP1):c.733C>T (p.Arg245Cys)
|
rs587780481
|
|
NM_000391.4(TPP1):c.76G>A (p.Asp26Asn)
|
rs1324731086
|
|
NM_000391.4(TPP1):c.808G>A (p.Gly270Arg)
|
rs561854371
|
|
NM_000391.4(TPP1):c.886+5del
|
rs1855590004
|
|
NM_000391.4(TPP1):c.88A>G (p.Thr30Ala)
|
rs1855632314
|
|
NM_000391.4(TPP1):c.898G>A (p.Gly300Arg)
|
rs1564855000
|
|
NM_000391.4(TPP1):c.992C>A (p.Ser331Tyr)
|
rs755386210
|
|
NM_000391.4(TPP1):c.992C>T (p.Ser331Phe)
|
rs755386210
|
|
NM_000520.6(HEXA):c.1028G>T (p.Gly343Val)
|
rs191330716
|
|
NM_000520.6(HEXA):c.1039G>T (p.Asp347Tyr)
|
rs745555933
|
|
NM_000520.6(HEXA):c.106C>T (p.Arg36Cys)
|
rs2089059184
|
|
NM_000520.6(HEXA):c.1087G>A (p.Val363Ile)
|
rs557550173
|
|
NM_000520.6(HEXA):c.1421+7del
|
rs747378954
|
|
NM_000520.6(HEXA):c.1556T>A (p.Val519Glu)
|
rs2088580697
|
|
NM_000520.6(HEXA):c.298G>T (p.Val100Phe)
|
rs794727250
|
|
NM_000520.6(HEXA):c.478G>A (p.Glu160Lys)
|
rs2088724627
|
|
NM_000520.6(HEXA):c.667A>G (p.Arg223Gly)
|
rs1595800426
|
|
NM_000520.6(HEXA):c.72G>T (p.Trp24Cys)
|
rs1555475519
|
|
NM_000520.6(HEXA):c.789T>C (p.Thr263=)
|
rs2088680576
|
|
NM_000520.6(HEXA):c.93A>T (p.Gln31His)
|
rs2089059614
|
|
NM_000521.4(HEXB):c.1265A>T (p.Glu422Val)
|
rs757550590
|
|
NM_000521.4(HEXB):c.150C>T (p.Ala50=)
|
rs779421706
|
|
NM_000521.4(HEXB):c.1583G>T (p.Arg528Ile)
|
rs760366178
|
|
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr)
|
rs778119481
|
|
NM_000521.4(HEXB):c.1613+14del
|
rs754704434
|
|
NM_000521.4(HEXB):c.300A>C (p.Arg100=)
|
rs1303786596
|
|
NM_000521.4(HEXB):c.343_351del (p.Pro115_Glu117del)
|
rs760427424
|
|
NM_000521.4(HEXB):c.42G>A (p.Leu14=)
|
rs1580377030
|
|
NM_000521.4(HEXB):c.986C>T (p.Thr329Ile)
|
rs1561226697
|
|
NM_000784.4(CYP27A1):c.1017+5G>C
|
rs370304209
|
|
NM_000784.4(CYP27A1):c.130C>T (p.Pro44Ser)
|
rs923201483
|
|
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His)
|
rs199638075
|
|
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met)
|
rs76822427
|
|
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His)
|
rs144701596
|
|
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del)
|
rs766316288
|
|
NM_000784.4(CYP27A1):c.404A>G (p.Glu135Gly)
|
rs1943692342
|
|
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro)
|
rs148417330
|
|
NM_000784.4(CYP27A1):c.515C>A (p.Ala172Glu)
|
rs200753815
|
|
NM_000784.4(CYP27A1):c.701C>T (p.Pro234Leu)
|
rs1943733556
|
|
NM_001042432.2(CLN3):c.771G>C (p.Glu257Asp)
|
rs73533466
|
|
NM_001042432.2(CLN3):c.868G>T (p.Val290Leu)
|
rs369008702
|
|
NM_001042432.2(CLN3):c.870A>G (p.Val290=)
|
rs1555468214
|
|
NM_006493.4(CLN5):c.-23C>T
|
rs949213778
|
|
NM_006493.4(CLN5):c.-75C>G
|
rs754544785
|
|
NM_006493.4(CLN5):c.-86C>G
|
rs988786332
|
|
NM_006493.4(CLN5):c.-96C>G
|
rs773979248
|
|
NM_006493.4(CLN5):c.-97del
|
rs765323914
|
|
NM_006493.4(CLN5):c.-99G>A
|
rs202118652
|
|
NM_006493.4(CLN5):c.1000A>G (p.Met334Val)
|
rs747998609
|
|
NM_006493.4(CLN5):c.142C>A (p.Pro48Thr)
|
rs1131691423
|
|
NM_006493.4(CLN5):c.162G>A (p.Pro54=)
|
rs754303449
|
|
NM_006493.4(CLN5):c.175C>T (p.Arg59Cys)
|
rs765773686
|
|
NM_006493.4(CLN5):c.270T>A (p.Asp90Glu)
|
rs898862493
|
|
NM_006493.4(CLN5):c.287G>A (p.Arg96Gln)
|
rs201068201
|
|
NM_006493.4(CLN5):c.358A>G (p.Ile120Val)
|
rs1231886495
|
|
NM_006493.4(CLN5):c.398T>G (p.Met133Arg)
|
rs1419308949
|
|
NM_006493.4(CLN5):c.442C>T (p.His148Tyr)
|
rs752563013
|
|
NM_006493.4(CLN5):c.500T>C (p.Phe167Ser)
|
rs1393893027
|
|
NM_006493.4(CLN5):c.544G>A (p.Val182Ile)
|
rs1064795474
|
|
NM_006493.4(CLN5):c.74C>T (p.Ser25Phe)
|
rs1085307868
|
|
NM_006493.4(CLN5):c.757G>C (p.Glu253Gln)
|
rs1232560552
|
|
NM_006493.4(CLN5):c.885C>G (p.Phe295Leu)
|
rs772050001
|
|
NM_006493.4(CLN5):c.92C>A (p.Ala31Glu)
|
rs766858440
|
|
NM_018941.4(CLN8):c.112G>T (p.Val38Phe)
|
rs370199508
|
|
NM_018941.4(CLN8):c.16G>C (p.Asp6His)
|
rs200999640
|
|
NM_018941.4(CLN8):c.234A>G (p.Thr78=)
|
rs1450867136
|
|
NM_018941.4(CLN8):c.238G>A (p.Ala80Thr)
|
rs998922998
|
|
NM_018941.4(CLN8):c.280G>A (p.Asp94Asn)
|
rs143918546
|
|
NM_018941.4(CLN8):c.280G>C (p.Asp94His)
|
rs143918546
|
|
NM_018941.4(CLN8):c.303C>G (p.Asn101Lys)
|
rs755831055
|
|
NM_018941.4(CLN8):c.331A>G (p.Thr111Ala)
|
rs1563107925
|
|
NM_018941.4(CLN8):c.371C>A (p.Ser124Tyr)
|
rs1198837795
|
|
NM_018941.4(CLN8):c.37A>G (p.Ile13Val)
|
rs1563107126
|
|
NM_018941.4(CLN8):c.382T>C (p.Phe128Leu)
|
rs1801301214
|
|
NM_018941.4(CLN8):c.399G>T (p.Leu133Phe)
|
rs948684101
|
|
NM_018941.4(CLN8):c.631A>G (p.Met211Val)
|
rs745785480
|
|
NM_018941.4(CLN8):c.648C>T (p.Phe216=)
|
rs564074916
|
|
NM_018941.4(CLN8):c.70C>T (p.Arg24Cys)
|
rs104894064
|
|
NM_018941.4(CLN8):c.721C>G (p.Leu241Val)
|
rs1554451594
|
|
NM_018941.4(CLN8):c.77C>T (p.Thr26Met)
|
rs755846977
|
|
NM_018941.4(CLN8):c.781G>A (p.Val261Met)
|
rs1482950665
|
|
NM_018941.4(CLN8):c.806A>G (p.Glu269Gly)
|
rs139003032
|
|
NM_018941.4(CLN8):c.812A>G (p.Lys271Arg)
|
rs914759366
|
|
NM_018941.4(CLN8):c.88G>T (p.Ala30Ser)
|
rs137852883
|
|