NM_001909.5(CTSD):c.912G>A (p.Pro304=)
|
rs140238987
|
0.00281
|
NM_001909.5(CTSD):c.*509C>T
|
rs780680894
|
0.00255
|
NM_001909.5(CTSD):c.639C>G (p.Pro213=)
|
rs146073498
|
0.00197
|
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)
|
rs143578698
|
0.00169
|
NM_001909.5(CTSD):c.*210C>G
|
rs528911846
|
0.00156
|
NM_025219.3(DNAJC5):c.*158A>T
|
rs41278210
|
0.00148
|
NM_017882.3(CLN6):c.53C>T (p.Ala18Val)
|
rs547125345
|
0.00120
|
NM_001909.5(CTSD):c.*694G>A
|
rs751538234
|
0.00116
|
NM_025219.3(DNAJC5):c.*1220G>A
|
rs73136582
|
0.00115
|
NM_002087.4(GRN):c.970G>A (p.Ala324Thr)
|
rs63750541
|
0.00112
|
NM_003793.4(CTSF):c.683C>G (p.Thr228Arg)
|
rs148611356
|
0.00105
|
NM_025219.3(DNAJC5):c.-109A>G
|
rs750302498
|
0.00102
|
NM_025219.3(DNAJC5):c.*736G>A
|
rs552739074
|
0.00078
|
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu)
|
rs757712173
|
0.00067
|
NM_025219.3(DNAJC5):c.*3480G>C
|
rs577249426
|
0.00060
|
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly)
|
rs3743088
|
0.00042
|
NM_001909.5(CTSD):c.827+13T>C
|
rs369602025
|
0.00036
|
NM_002087.4(GRN):c.1180-3C>T
|
rs368307425
|
0.00036
|
NM_001909.5(CTSD):c.1071+12A>G
|
rs113936232
|
0.00034
|
NM_001909.5(CTSD):c.*736C>G
|
rs577842141
|
0.00032
|
NM_001909.5(CTSD):c.1071+7G>A
|
rs374010531
|
0.00029
|
NM_002087.4(GRN):c.635G>A (p.Arg212Gln)
|
rs63750787
|
0.00029
|
NM_003793.4(CTSF):c.1315G>A (p.Gly439Ser)
|
rs140795906
|
0.00028
|
NM_025219.3(DNAJC5):c.*274C>T
|
rs762734761
|
0.00028
|
NM_001909.5(CTSD):c.154G>A (p.Val52Ile)
|
rs143517230
|
0.00026
|
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr)
|
rs147800688
|
0.00025
|
NM_025219.3(DNAJC5):c.*4387C>G
|
rs550273913
|
0.00023
|
NM_001909.5(CTSD):c.*358C>T
|
rs542969755
|
0.00022
|
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln)
|
rs63751100
|
0.00022
|
NM_001909.5(CTSD):c.240C>T (p.Tyr80=)
|
rs147641822
|
0.00019
|
NM_003793.4(CTSF):c.19C>T (p.Leu7Phe)
|
rs544669445
|
0.00019
|
NM_002087.4(GRN):c.287A>G (p.His96Arg)
|
rs139272628
|
0.00018
|
NM_025219.3(DNAJC5):c.*3839G>A
|
rs145028189
|
0.00017
|
NM_025219.3(DNAJC5):c.*1182C>T
|
rs753503517
|
0.00015
|
NM_001909.5(CTSD):c.*403C>T
|
rs140852332
|
0.00014
|
NM_001909.5(CTSD):c.*494C>T
|
rs551867617
|
0.00014
|
NM_025219.3(DNAJC5):c.*3116T>A
|
rs886056949
|
0.00014
|
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile)
|
rs202073338
|
0.00013
|
NM_025219.3(DNAJC5):c.*3375C>T
|
rs886056951
|
0.00013
|
NM_001909.5(CTSD):c.90G>A (p.Thr30=)
|
rs368529527
|
0.00012
|
NM_017882.3(CLN6):c.41G>A (p.Gly14Asp)
|
rs994590268
|
0.00011
|
NM_025219.3(DNAJC5):c.*3213G>A
|
rs902946721
|
0.00011
|
NM_025219.3(DNAJC5):c.*3550C>T
|
rs546308193
|
0.00011
|
NM_001909.5(CTSD):c.14G>C (p.Ser5Thr)
|
rs764386803
|
0.00010
|
NM_002087.4(GRN):c.1555G>A (p.Val519Met)
|
rs141111290
|
0.00010
|
NM_002087.4(GRN):c.415T>C (p.Cys139Arg)
|
rs763841075
|
0.00010
|
NM_025219.3(DNAJC5):c.*2933C>T
|
rs886056946
|
0.00010
|
NM_001909.5(CTSD):c.-24C>T
|
rs587780917
|
0.00009
|
NM_002087.4(GRN):c.329G>A (p.Arg110Gln)
|
rs375439809
|
0.00009
|
NM_002087.4(GRN):c.497C>T (p.Pro166Leu)
|
rs368705304
|
0.00009
|
NM_002087.4(GRN):c.53C>T (p.Thr18Met)
|
rs199572314
|
0.00009
|
NM_025219.3(DNAJC5):c.*4036G>A
|
rs758582743
|
0.00009
|
NM_001909.5(CTSD):c.*130G>A
|
rs1002940636
|
0.00008
|
NM_002087.4(GRN):c.229G>A (p.Val77Ile)
|
rs148531161
|
0.00008
|
NM_025219.3(DNAJC5):c.*1557T>G
|
rs542172964
|
0.00008
|
NM_025219.3(DNAJC5):c.*322G>A
|
rs143646564
|
0.00008
|
NM_001909.5(CTSD):c.*398G>A
|
rs776662882
|
0.00007
|
NM_025219.3(DNAJC5):c.-186C>T
|
rs886056927
|
0.00007
|
NM_025219.3(DNAJC5):c.565C>T (p.His189Tyr)
|
rs377119075
|
0.00007
|
NM_001909.5(CTSD):c.1084G>A (p.Gly362Arg)
|
rs746733183
|
0.00006
|
NM_001909.5(CTSD):c.926G>A (p.Arg309His)
|
rs374540411
|
0.00006
|
NM_002087.4(GRN):c.1562G>A (p.Cys521Tyr)
|
rs553119528
|
0.00006
|
NM_002087.4(GRN):c.268G>A (p.Val90Met)
|
rs200019356
|
0.00006
|
NM_002087.4(GRN):c.361G>A (p.Val121Met)
|
rs780731069
|
0.00006
|
NM_002087.4(GRN):c.442G>A (p.Gly148Arg)
|
rs375343686
|
0.00006
|
NM_002087.4(GRN):c.56G>A (p.Arg19Gln)
|
rs764665710
|
0.00006
|
NM_002087.4(GRN):c.881A>G (p.Tyr294Cys)
|
rs752345618
|
0.00006
|
NM_003793.4(CTSF):c.1100A>G (p.Asn367Ser)
|
rs201500574
|
0.00006
|
NM_003793.4(CTSF):c.1243G>A (p.Gly415Arg)
|
rs200426008
|
0.00006
|
NM_017882.3(CLN6):c.297+113G>C
|
rs553192210
|
0.00006
|
NM_017882.3(CLN6):c.728C>T (p.Ala243Val)
|
rs767164948
|
0.00006
|
NM_025219.3(DNAJC5):c.*1927G>A
|
rs187307345
|
0.00006
|
NM_025219.3(DNAJC5):c.*276C>T
|
rs764108980
|
0.00006
|
NM_025219.3(DNAJC5):c.-95G>C
|
rs886056932
|
0.00006
|
NM_002087.4(GRN):c.128G>A (p.Arg43His)
|
rs766068311
|
0.00005
|
NM_002087.4(GRN):c.1540G>A (p.Val514Met)
|
rs142926942
|
0.00005
|
NM_002087.4(GRN):c.634C>T (p.Arg212Trp)
|
rs139375860
|
0.00005
|
NM_002087.4(GRN):c.803C>T (p.Thr268Met)
|
rs202006119
|
0.00005
|
NM_003793.4(CTSF):c.1237C>T (p.Arg413Cys)
|
rs779164010
|
0.00005
|
NM_025219.3(DNAJC5):c.*1934T>G
|
rs768056284
|
0.00005
|
NM_001909.5(CTSD):c.*117C>T
|
rs527778631
|
0.00004
|
NM_001909.5(CTSD):c.*390G>A
|
rs1262477522
|
0.00004
|
NM_001909.5(CTSD):c.1183A>G (p.Thr395Ala)
|
rs778724059
|
0.00004
|
NM_001909.5(CTSD):c.283G>A (p.Val95Ile)
|
rs141482597
|
0.00004
|
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu)
|
rs587779409
|
0.00004
|
NM_002087.4(GRN):c.1145C>T (p.Thr382Met)
|
rs768333369
|
0.00004
|
NM_002087.4(GRN):c.1193C>T (p.Ser398Leu)
|
rs148213321
|
0.00004
|
NM_002087.4(GRN):c.1226C>T (p.Thr409Met)
|
rs373885474
|
0.00004
|
NM_002087.4(GRN):c.1514C>G (p.Ala505Gly)
|
rs780159686
|
0.00004
|
NM_002087.4(GRN):c.1648G>A (p.Val550Ile)
|
rs63750754
|
0.00004
|
NM_002087.4(GRN):c.1712A>G (p.Lys571Arg)
|
rs145344570
|
0.00004
|
NM_002087.4(GRN):c.1721G>A (p.Arg574His)
|
rs756117423
|
0.00004
|
NM_002087.4(GRN):c.698C>A (p.Pro233Gln)
|
rs63750455
|
0.00004
|
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu)
|
rs587780316
|
0.00004
|
NM_017882.3(CLN6):c.754C>T (p.Arg252Cys)
|
rs145746878
|
0.00004
|
NM_017882.3(CLN6):c.755G>A (p.Arg252His)
|
rs374681194
|
0.00004
|
NM_025219.3(DNAJC5):c.*1304G>A
|
rs865818369
|
0.00004
|
NM_025219.3(DNAJC5):c.*2171G>A
|
rs185288496
|
0.00004
|
NM_025219.3(DNAJC5):c.*2993C>T
|
rs886056947
|
0.00004
|
NM_001909.5(CTSD):c.*654C>T
|
rs148490566
|
0.00003
|
NM_001909.5(CTSD):c.-37G>A
|
rs756112449
|
0.00003
|
NM_001909.5(CTSD):c.817C>T (p.His273Tyr)
|
rs145905196
|
0.00003
|
NM_002087.4(GRN):c.1112G>C (p.Ser371Thr)
|
rs149023078
|
0.00003
|
NM_002087.4(GRN):c.1294C>T (p.Arg432Cys)
|
rs63750130
|
0.00003
|
NM_002087.4(GRN):c.302G>A (p.Arg101Gln)
|
rs201686997
|
0.00003
|
NM_002087.4(GRN):c.662G>C (p.Cys221Ser)
|
rs758322775
|
0.00003
|
NM_002087.4(GRN):c.827C>T (p.Ala276Val)
|
rs202178902
|
0.00003
|
NM_002087.4(GRN):c.861G>C (p.Glu287Asp)
|
rs63750565
|
0.00003
|
NM_003793.4(CTSF):c.1253G>A (p.Arg418His)
|
rs141345438
|
0.00003
|
NM_003793.4(CTSF):c.613C>T (p.Arg205Trp)
|
rs568250930
|
0.00003
|
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp)
|
rs886285802
|
0.00003
|
NM_017882.3(CLN6):c.446G>A (p.Arg149His)
|
rs154774638
|
0.00003
|
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)
|
rs764571295
|
0.00003
|
NM_025219.3(DNAJC5):c.*1391G>A
|
rs886056944
|
0.00003
|
NM_025219.3(DNAJC5):c.-185G>T
|
rs886056928
|
0.00003
|
NM_001909.5(CTSD):c.*356C>G
|
rs886048062
|
0.00002
|
NM_002087.4(GRN):c.103G>A (p.Gly35Arg)
|
rs533451404
|
0.00002
|
NM_002087.4(GRN):c.1373C>T (p.Pro458Leu)
|
rs63750537
|
0.00002
|
NM_002087.4(GRN):c.139-3T>C
|
rs371119011
|
0.00002
|
NM_002087.4(GRN):c.1433G>A (p.Arg478His)
|
rs140747584
|
0.00002
|
NM_002087.4(GRN):c.157C>G (p.Leu53Val)
|
rs906652114
|
0.00002
|
NM_002087.4(GRN):c.1663C>T (p.Arg555Trp)
|
rs768297331
|
0.00002
|
NM_002087.4(GRN):c.208G>A (p.Gly70Ser)
|
rs772381732
|
0.00002
|
NM_002087.4(GRN):c.238A>T (p.Thr80Ser)
|
rs1022228740
|
0.00002
|
NM_002087.4(GRN):c.325G>A (p.Gly109Arg)
|
rs766292113
|
0.00002
|
NM_002087.4(GRN):c.421G>A (p.Val141Ile)
|
rs63749853
|
0.00002
|
NM_002087.4(GRN):c.502G>A (p.Gly168Ser)
|
rs753070659
|
0.00002
|
NM_002087.4(GRN):c.530G>A (p.Arg177His)
|
rs753441122
|
0.00002
|
NM_002087.4(GRN):c.836-3C>T
|
rs771907059
|
0.00002
|
NM_002087.4(GRN):c.989C>T (p.Thr330Met)
|
rs376059429
|
0.00002
|
NM_003793.4(CTSF):c.587G>A (p.Arg196Gln)
|
rs143814748
|
0.00002
|
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln)
|
rs154774634
|
0.00002
|
NM_017882.3(CLN6):c.482C>T (p.Thr161Met)
|
rs757734645
|
0.00002
|
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser)
|
rs763944821
|
0.00002
|
NM_025219.3(DNAJC5):c.*1915C>T
|
rs1044082802
|
0.00002
|
NM_025219.3(DNAJC5):c.*2633G>A
|
rs533825911
|
0.00002
|
NM_025219.3(DNAJC5):c.*286G>A
|
rs886056940
|
0.00002
|
NM_025219.3(DNAJC5):c.*3870G>A
|
rs886056953
|
0.00002
|
NM_025219.3(DNAJC5):c.*4317G>A
|
rs911426732
|
0.00002
|
NM_025219.3(DNAJC5):c.162G>A (p.Ala54=)
|
rs781164296
|
0.00002
|
NM_025219.3(DNAJC5):c.437C>T (p.Thr146Met)
|
rs779453928
|
0.00002
|
NM_025219.3(DNAJC5):c.444C>T (p.Phe148=)
|
rs772254851
|
0.00002
|
NM_001909.5(CTSD):c.*200C>G
|
rs1176741600
|
0.00001
|
NM_001909.5(CTSD):c.*330G>T
|
rs955942954
|
0.00001
|
NM_001909.5(CTSD):c.-3G>T
|
rs541792699
|
0.00001
|
NM_001909.5(CTSD):c.-47A>G
|
rs886048067
|
0.00001
|
NM_001909.5(CTSD):c.1222G>A (p.Glu408Lys)
|
rs554062876
|
0.00001
|
NM_001909.5(CTSD):c.1232G>A (p.Arg411His)
|
rs200303993
|
0.00001
|
NM_001909.5(CTSD):c.716C>T (p.Ala239Val)
|
rs759564989
|
0.00001
|
NM_001909.5(CTSD):c.946G>A (p.Gly316Arg)
|
rs764766572
|
0.00001
|
NM_002087.4(GRN):c.100C>T (p.Pro34Ser)
|
rs748147151
|
0.00001
|
NM_002087.4(GRN):c.1019A>T (p.His340Leu)
|
rs775196555
|
0.00001
|
NM_002087.4(GRN):c.1080G>C (p.Leu360Phe)
|
rs1480952239
|
0.00001
|
NM_002087.4(GRN):c.1138C>G (p.Gln380Glu)
|
rs748829798
|
0.00001
|
NM_002087.4(GRN):c.1197C>A (p.Asp399Glu)
|
rs956013468
|
0.00001
|
NM_002087.4(GRN):c.1241G>T (p.Gly414Val)
|
rs63750920
|
0.00001
|
NM_002087.4(GRN):c.1243C>G (p.Gln415Glu)
|
rs775888774
|
0.00001
|
NM_002087.4(GRN):c.1244A>T (p.Gln415Leu)
|
rs749595402
|
0.00001
|
NM_002087.4(GRN):c.1288C>G (p.Pro430Ala)
|
rs200645022
|
0.00001
|
NM_002087.4(GRN):c.1352C>T (p.Pro451Leu)
|
rs752428000
|
0.00001
|
NM_002087.4(GRN):c.1357G>A (p.Gly453Arg)
|
rs751072702
|
0.00001
|
NM_002087.4(GRN):c.1409C>T (p.Pro470Leu)
|
rs63750007
|
0.00001
|
NM_002087.4(GRN):c.1432C>T (p.Arg478Cys)
|
rs781387612
|
0.00001
|
NM_002087.4(GRN):c.1448C>T (p.Pro483Leu)
|
rs774128685
|
0.00001
|
NM_002087.4(GRN):c.1460C>T (p.Thr487Ile)
|
rs772784579
|
0.00001
|
NM_002087.4(GRN):c.1486G>A (p.Glu496Lys)
|
rs764615963
|
0.00001
|
NM_002087.4(GRN):c.1604G>A (p.Arg535Gln)
|
rs753857985
|
0.00001
|
NM_002087.4(GRN):c.1735C>T (p.Arg579Cys)
|
rs748764855
|
0.00001
|
NM_002087.4(GRN):c.1736G>A (p.Arg579His)
|
rs373138049
|
0.00001
|
NM_002087.4(GRN):c.22G>A (p.Val8Met)
|
rs774367010
|
0.00001
|
NM_002087.4(GRN):c.250T>C (p.Cys84Arg)
|
rs1598362876
|
0.00001
|
NM_002087.4(GRN):c.254C>T (p.Pro85Leu)
|
rs1275075189
|
0.00001
|
NM_002087.4(GRN):c.280G>A (p.Asp94Asn)
|
rs375678079
|
0.00001
|
NM_002087.4(GRN):c.394G>A (p.Glu132Lys)
|
rs770662203
|
0.00001
|
NM_002087.4(GRN):c.529C>T (p.Arg177Cys)
|
rs751651838
|
0.00001
|
NM_002087.4(GRN):c.568A>C (p.Lys190Gln)
|
rs768727709
|
0.00001
|
NM_002087.4(GRN):c.58T>C (p.Cys20Arg)
|
rs542613543
|
0.00001
|
NM_002087.4(GRN):c.620T>C (p.Met207Thr)
|
rs776198499
|
0.00001
|
NM_002087.4(GRN):c.627G>A (p.Pro209=)
|
rs374385285
|
0.00001
|
NM_002087.4(GRN):c.62C>T (p.Pro21Leu)
|
rs745947095
|
0.00001
|
NM_002087.4(GRN):c.892C>T (p.Arg298Cys)
|
rs768033215
|
0.00001
|
NM_002087.4(GRN):c.902C>T (p.Ser301Leu)
|
rs1026683055
|
0.00001
|
NM_003793.4(CTSF):c.1028C>T (p.Ser343Leu)
|
rs200646712
|
0.00001
|
NM_003793.4(CTSF):c.722-3C>A
|
rs1857927546
|
0.00001
|
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys)
|
rs1451777867
|
0.00001
|
NM_017882.3(CLN6):c.255C>G (p.Phe85Leu)
|
rs545955828
|
0.00001
|
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys)
|
rs796052352
|
0.00001
|
NM_017882.3(CLN6):c.317G>A (p.Arg106His)
|
rs781133812
|
0.00001
|
NM_017882.3(CLN6):c.407G>A (p.Arg136His)
|
rs769701646
|
0.00001
|
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys)
|
rs750081097
|
0.00001
|
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys)
|
rs746753722
|
0.00001
|
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg)
|
rs750937323
|
0.00001
|
NM_025219.3(DNAJC5):c.*1137A>G
|
rs886056943
|
0.00001
|
NM_025219.3(DNAJC5):c.*1873C>T
|
rs1349641328
|
0.00001
|
NM_025219.3(DNAJC5):c.*1893C>A
|
rs1315620182
|
0.00001
|
NM_025219.3(DNAJC5):c.*2545C>G
|
rs577579444
|
0.00001
|
NM_025219.3(DNAJC5):c.*4057C>T
|
rs886056954
|
0.00001
|
NM_025219.3(DNAJC5):c.*4375C>T
|
rs1465625052
|
0.00001
|
NM_025219.3(DNAJC5):c.*686C>T
|
rs886056942
|
0.00001
|
NM_025219.3(DNAJC5):c.*80A>G
|
rs886056936
|
0.00001
|
NM_025219.3(DNAJC5):c.*944A>T
|
rs774407862
|
0.00001
|
NM_025219.3(DNAJC5):c.-12+11T>A
|
rs1216840252
|
0.00001
|
NC_000017.11:g.(?_44027807)_(44352876_?)dup
|
|
|
NM_001909.5(CTSD):c.*133G>A
|
rs1276388326
|
|
NM_001909.5(CTSD):c.*342C>T
|
rs1050822
|
|
NM_001909.5(CTSD):c.*375A>G
|
rs916854972
|
|
NM_001909.5(CTSD):c.*555C>A
|
rs539003212
|
|
NM_001909.5(CTSD):c.*574C>T
|
rs886048061
|
|
NM_001909.5(CTSD):c.*58C>T
|
rs886048063
|
|
NM_001909.5(CTSD):c.*651C>T
|
rs991617803
|
|
NM_001909.5(CTSD):c.*98G>A
|
rs376087786
|
|
NM_001909.5(CTSD):c.1034A>G (p.Lys345Arg)
|
rs1845759906
|
|
NM_001909.5(CTSD):c.1119G>C (p.Met373Ile)
|
rs796052398
|
|
NM_001909.5(CTSD):c.111G>C (p.Ser37=)
|
rs535140505
|
|
NM_001909.5(CTSD):c.285C>T (p.Val95=)
|
rs1845849997
|
|
NM_001909.5(CTSD):c.315C>A (p.Val105=)
|
rs1845849420
|
|
NM_001909.5(CTSD):c.49C>T (p.Pro17Ser)
|
rs1845913488
|
|
NM_001909.5(CTSD):c.566C>T (p.Thr189Ile)
|
rs1554962634
|
|
NM_001909.5(CTSD):c.659A>C (p.Gln220Pro)
|
rs886048066
|
|
NM_001909.5(CTSD):c.660G>C (p.Gln220His)
|
rs762797920
|
|
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys)
|
rs373699222
|
|
NM_001909.5(CTSD):c.940G>A (p.Ala314Thr)
|
rs886048065
|
|
NM_001909.5(CTSD):c.973-8C>A
|
rs886048064
|
|
NM_001909.5(CTSD):c.999C>A (p.Ser333=)
|
rs755867394
|
|
NM_002087.4(GRN):c.-8+5G>A
|
|
|
NM_002087.4(GRN):c.1001C>T (p.Thr334Ile)
|
|
|
NM_002087.4(GRN):c.1004G>A (p.Cys335Tyr)
|
|
|
NM_002087.4(GRN):c.1006G>C (p.Glu336Gln)
|
|
|
NM_002087.4(GRN):c.1011G>C (p.Gln337His)
|
|
|
NM_002087.4(GRN):c.1019A>G (p.His340Arg)
|
rs775196555
|
|
NM_002087.4(GRN):c.101C>A (p.Pro34His)
|
|
|
NM_002087.4(GRN):c.1036_1038del (p.Glu346del)
|
rs751373342
|
|
NM_002087.4(GRN):c.1059C>G (p.Ser353Arg)
|
|
|
NM_002087.4(GRN):c.1076C>T (p.Ala359Val)
|
|
|
NM_002087.4(GRN):c.1102_1104del (p.Asn368del)
|
|
|
NM_002087.4(GRN):c.110C>T (p.Ala37Val)
|
rs1248005591
|
|
NM_002087.4(GRN):c.1117C>A (p.Pro373Thr)
|
|
|
NM_002087.4(GRN):c.1120TCC[1] (p.Ser375del)
|
rs754862784
|
|
NM_002087.4(GRN):c.1152G>T (p.Gly384=)
|
rs2143342232
|
|
NM_002087.4(GRN):c.1179+4_1179+8del
|
rs752440929
|
|
NM_002087.4(GRN):c.1179G>C (p.Glu393Asp)
|
|
|
NM_002087.4(GRN):c.1204C>G (p.His402Asp)
|
|
|
NM_002087.4(GRN):c.1213C>T (p.Pro405Ser)
|
|
|
NM_002087.4(GRN):c.1240G>A (p.Gly414Arg)
|
|
|
NM_002087.4(GRN):c.1253G>C (p.Arg418Pro)
|
|
|
NM_002087.4(GRN):c.1259G>A (p.Ser420Asn)
|
|
|
NM_002087.4(GRN):c.1260C>G (p.Ser420Arg)
|
|
|
NM_002087.4(GRN):c.1261G>A (p.Glu421Lys)
|
rs199934385
|
|
NM_002087.4(GRN):c.1267G>A (p.Val423Met)
|
|
|
NM_002087.4(GRN):c.1295G>A (p.Arg432His)
|
|
|
NM_002087.4(GRN):c.1316C>G (p.Pro439Arg)
|
|
|
NM_002087.4(GRN):c.1326C>G (p.Ile442Met)
|
|
|
NM_002087.4(GRN):c.1327G>C (p.Gly443Arg)
|
|
|
NM_002087.4(GRN):c.1337A>T (p.Gln446Leu)
|
|
|
NM_002087.4(GRN):c.1343C>T (p.Thr448Ile)
|
|
|
NM_002087.4(GRN):c.1347C>G (p.Ser449Arg)
|
|
|
NM_002087.4(GRN):c.1353G>A (p.Pro451=)
|
|
|
NM_002087.4(GRN):c.1354_1374del (p.Val452_Pro458del)
|
|
|
NM_002087.4(GRN):c.1355T>A (p.Val452Glu)
|
rs759134554
|
|
NM_002087.4(GRN):c.1355T>C (p.Val452Ala)
|
|
|
NM_002087.4(GRN):c.1373C>G (p.Pro458Arg)
|
rs63750537
|
|
NM_002087.4(GRN):c.139G>A (p.Asp47Asn)
|
rs1239690384
|
|
NM_002087.4(GRN):c.1413T>C (p.His471=)
|
|
|
NM_002087.4(GRN):c.1423T>C (p.Cys475Arg)
|
|
|
NM_002087.4(GRN):c.1426G>A (p.Glu476Lys)
|
|
|
NM_002087.4(GRN):c.1438C>T (p.His480Tyr)
|
rs770058074
|
|
NM_002087.4(GRN):c.1464C>T (p.Cys488=)
|
rs1253276640
|
|
NM_002087.4(GRN):c.1468G>A (p.Val490Met)
|
rs886053006
|
|
NM_002087.4(GRN):c.147G>C (p.Trp49Cys)
|
|
|
NM_002087.4(GRN):c.1483T>C (p.Cys495Arg)
|
|
|
NM_002087.4(GRN):c.1499T>C (p.Val500Ala)
|
rs1256051695
|
|
NM_002087.4(GRN):c.149C>T (p.Pro50Leu)
|
|
|
NM_002087.4(GRN):c.1510C>G (p.Pro504Ala)
|
rs1313083314
|
|
NM_002087.4(GRN):c.1511C>T (p.Pro504Leu)
|
|
|
NM_002087.4(GRN):c.1528C>T (p.Arg510Cys)
|
|
|
NM_002087.4(GRN):c.1529G>A (p.Arg510His)
|
|
|
NM_002087.4(GRN):c.1561T>G (p.Cys521Gly)
|
|
|
NM_002087.4(GRN):c.1570G>C (p.Gly524Arg)
|
|
|
NM_002087.4(GRN):c.1571G>T (p.Gly524Val)
|
|
|
NM_002087.4(GRN):c.1595C>A (p.Thr532Asn)
|
|
|
NM_002087.4(GRN):c.1600T>A (p.Cys534Ser)
|
|
|
NM_002087.4(GRN):c.1603C>T (p.Arg535Ter)
|
|
|
NM_002087.4(GRN):c.1606G>A (p.Asp536Asn)
|
|
|
NM_002087.4(GRN):c.160A>G (p.Ser54Gly)
|
rs2143326730
|
|
NM_002087.4(GRN):c.1613G>A (p.Arg538Gln)
|
|
|
NM_002087.4(GRN):c.1630T>C (p.Cys544Arg)
|
|
|
NM_002087.4(GRN):c.1639C>T (p.Arg547Cys)
|
|
|
NM_002087.4(GRN):c.1642C>T (p.Gln548Ter)
|
|
|
NM_002087.4(GRN):c.1664G>A (p.Arg555Gln)
|
|
|
NM_002087.4(GRN):c.1669C>T (p.His557Tyr)
|
rs1415695846
|
|
NM_002087.4(GRN):c.1690C>T (p.Arg564Cys)
|
|
|
NM_002087.4(GRN):c.1691G>A (p.Arg564His)
|
rs971443926
|
|
NM_002087.4(GRN):c.1696G>A (p.Ala566Thr)
|
|
|
NM_002087.4(GRN):c.1706G>A (p.Gly569Asp)
|
|
|
NM_002087.4(GRN):c.1708A>G (p.Thr570Ala)
|
|
|
NM_002087.4(GRN):c.170T>G (p.Leu57Arg)
|
rs545762769
|
|
NM_002087.4(GRN):c.1720C>T (p.Arg574Cys)
|
|
|
NM_002087.4(GRN):c.1725_1726delinsAA (p.Glu576Lys)
|
|
|
NM_002087.4(GRN):c.1730C>T (p.Ala577Val)
|
|
|
NM_002087.4(GRN):c.1733C>T (p.Pro578Leu)
|
|
|
NM_002087.4(GRN):c.1734G>A (p.Pro578=)
|
|
|
NM_002087.4(GRN):c.1744G>A (p.Ala582Thr)
|
|
|
NM_002087.4(GRN):c.1759C>T (p.Pro587Ser)
|
|
|
NM_002087.4(GRN):c.176G>C (p.Gly59Ala)
|
|
|
NM_002087.4(GRN):c.1775T>C (p.Leu592Pro)
|
|
|
NM_002087.4(GRN):c.182G>A (p.Cys61Tyr)
|
|
|
NM_002087.4(GRN):c.18C>G (p.Ser6Arg)
|
|
|
NM_002087.4(GRN):c.190G>A (p.Asp64Asn)
|
|
|
NM_002087.4(GRN):c.19T>G (p.Trp7Gly)
|
|
|
NM_002087.4(GRN):c.206C>A (p.Ala69Asp)
|
|
|
NM_002087.4(GRN):c.212A>G (p.His71Arg)
|
|
|
NM_002087.4(GRN):c.215C>T (p.Ser72Phe)
|
|
|
NM_002087.4(GRN):c.258C>G (p.Phe86Leu)
|
|
|
NM_002087.4(GRN):c.263A>C (p.Glu88Ala)
|
|
|
NM_002087.4(GRN):c.264+3G>T
|
|
|
NM_002087.4(GRN):c.264+6C>T
|
|
|
NM_002087.4(GRN):c.26C>T (p.Ala9Val)
|
|
|
NM_002087.4(GRN):c.277G>A (p.Gly93Arg)
|
|
|
NM_002087.4(GRN):c.278G>A (p.Gly93Glu)
|
|
|
NM_002087.4(GRN):c.301C>T (p.Arg101Trp)
|
rs543578531
|
|
NM_002087.4(GRN):c.305G>A (p.Gly102Asp)
|
|
|
NM_002087.4(GRN):c.30A>C (p.Leu10Phe)
|
|
|
NM_002087.4(GRN):c.332C>T (p.Ser111Phe)
|
rs1354832051
|
|
NM_002087.4(GRN):c.348A>C (p.Ser116=)
|
|
|
NM_002087.4(GRN):c.349+15T>A
|
|
|
NM_002087.4(GRN):c.350G>A (p.Gly117Asp)
|
rs758131649
|
|
NM_002087.4(GRN):c.352AAC[1] (p.Asn119del)
|
rs758168578
|
|
NM_002087.4(GRN):c.379C>G (p.Pro127Ala)
|
|
|
NM_002087.4(GRN):c.393C>A (p.Phe131Leu)
|
|
|
NM_002087.4(GRN):c.401C>T (p.Pro134Leu)
|
|
|
NM_002087.4(GRN):c.406T>G (p.Phe136Val)
|
|
|
NM_002087.4(GRN):c.413C>T (p.Thr138Met)
|
|
|
NM_002087.4(GRN):c.427G>T (p.Val143Phe)
|
rs1194653265
|
|
NM_002087.4(GRN):c.456_457delinsAT (p.Met152_Pro153delinsIleSer)
|
rs2143332050
|
|
NM_002087.4(GRN):c.463-5C>G
|
rs1475553309
|
|
NM_002087.4(GRN):c.47C>T (p.Ala16Val)
|
|
|
NM_002087.4(GRN):c.487C>T (p.His163Tyr)
|
|
|
NM_002087.4(GRN):c.493T>C (p.Cys165Arg)
|
rs2143333047
|
|
NM_002087.4(GRN):c.50G>C (p.Gly17Ala)
|
|
|
NM_002087.4(GRN):c.520G>A (p.Val174Ile)
|
|
|
NM_002087.4(GRN):c.545C>G (p.Thr182Arg)
|
|
|
NM_002087.4(GRN):c.549C>T (p.Gly183=)
|
rs2143333571
|
|
NM_002087.4(GRN):c.554A>G (p.His185Arg)
|
|
|
NM_002087.4(GRN):c.562G>A (p.Ala188Thr)
|
|
|
NM_002087.4(GRN):c.591C>G (p.Asn197Lys)
|
|
|
NM_002087.4(GRN):c.614C>T (p.Ser205Leu)
|
|
|
NM_002087.4(GRN):c.632C>T (p.Ala211Val)
|
|
|
NM_002087.4(GRN):c.640C>T (p.Arg214Trp)
|
|
|
NM_002087.4(GRN):c.641G>A (p.Arg214Gln)
|
rs1211576020
|
|
NM_002087.4(GRN):c.650A>T (p.Asp217Val)
|
|
|
NM_002087.4(GRN):c.658A>G (p.Thr220Ala)
|
rs63750683
|
|
NM_002087.4(GRN):c.665G>A (p.Cys222Tyr)
|
|
|
NM_002087.4(GRN):c.673C>T (p.Pro225Ser)
|
|
|
NM_002087.4(GRN):c.680G>A (p.Gly227Glu)
|
|
|
NM_002087.4(GRN):c.685T>C (p.Tyr229His)
|
|
|
NM_002087.4(GRN):c.691T>C (p.Cys231Arg)
|
|
|
NM_002087.4(GRN):c.694T>C (p.Cys232Arg)
|
|
|
NM_002087.4(GRN):c.701T>G (p.Met234Arg)
|
rs2143335468
|
|
NM_002087.4(GRN):c.708+2dup
|
rs2143335568
|
|
NM_002087.4(GRN):c.713C>T (p.Thr238Ile)
|
|
|
NM_002087.4(GRN):c.716G>T (p.Cys239Phe)
|
|
|
NM_002087.4(GRN):c.724G>C (p.Asp242His)
|
|
|
NM_002087.4(GRN):c.743C>T (p.Pro248Leu)
|
rs63750344
|
|
NM_002087.4(GRN):c.752C>G (p.Thr251Ser)
|
|
|
NM_002087.4(GRN):c.773G>A (p.Ser258Asn)
|
rs63751000
|
|
NM_002087.4(GRN):c.781C>T (p.Leu261Phe)
|
|
|
NM_002087.4(GRN):c.784T>C (p.Ser262Pro)
|
|
|
NM_002087.4(GRN):c.796G>A (p.Ala266Thr)
|
rs747362041
|
|
NM_002087.4(GRN):c.796G>C (p.Ala266Pro)
|
rs747362041
|
|
NM_002087.4(GRN):c.797C>T (p.Ala266Val)
|
|
|
NM_002087.4(GRN):c.7A>G (p.Thr3Ala)
|
rs2048347394
|
|
NM_002087.4(GRN):c.808C>T (p.Leu270Phe)
|
rs1567887059
|
|
NM_002087.4(GRN):c.817A>G (p.Lys273Glu)
|
|
|
NM_002087.4(GRN):c.824C>T (p.Pro275Leu)
|
|
|
NM_002087.4(GRN):c.857T>C (p.Met286Thr)
|
|
|
NM_002087.4(GRN):c.86C>T (p.Ala29Val)
|
|
|
NM_002087.4(GRN):c.879C>G (p.Gly293=)
|
rs764968816
|
|
NM_002087.4(GRN):c.893G>A (p.Arg298His)
|
|
|
NM_002087.4(GRN):c.8C>G (p.Thr3Ser)
|
rs375939802
|
|
NM_002087.4(GRN):c.8C>T (p.Thr3Ile)
|
|
|
NM_002087.4(GRN):c.932A>T (p.Gln311Leu)
|
|
|
NM_002087.4(GRN):c.933+5C>G
|
|
|
NM_002087.4(GRN):c.933+5C>T
|
|
|
NM_002087.4(GRN):c.935C>T (p.Ala312Val)
|
|
|
NM_002087.4(GRN):c.980C>T (p.Thr327Met)
|
|
|
NM_002087.4(GRN):c.998G>T (p.Gly333Val)
|
|
|
NM_002087.4(GRN):c.99C>A (p.Asp33Glu)
|
rs63750742
|
|
NM_003793.4(CTSF):c.1069T>C (p.Tyr357His)
|
|
|
NM_003793.4(CTSF):c.109C>G (p.Pro37Ala)
|
|
|
NM_003793.4(CTSF):c.1175C>T (p.Ala392Val)
|
|
|
NM_003793.4(CTSF):c.1198A>G (p.Ile400Val)
|
|
|
NM_003793.4(CTSF):c.1267C>T (p.Leu423Phe)
|
|
|
NM_003793.4(CTSF):c.1285A>G (p.Ile429Val)
|
|
|
NM_003793.4(CTSF):c.133T>C (p.Phe45Leu)
|
|
|
NM_003793.4(CTSF):c.1350del (p.Asn451fs)
|
rs1565311637
|
|
NM_003793.4(CTSF):c.1399C>T (p.Arg467Cys)
|
|
|
NM_003793.4(CTSF):c.160C>A (p.Arg54=)
|
rs776443007
|
|
NM_003793.4(CTSF):c.206T>G (p.Val69Gly)
|
|
|
NM_003793.4(CTSF):c.245_256del (p.Ala82_Glu85del)
|
|
|
NM_003793.4(CTSF):c.280G>A (p.Val94Met)
|
|
|
NM_003793.4(CTSF):c.473A>G (p.Asn158Ser)
|
|
|
NM_003793.4(CTSF):c.614G>A (p.Arg205Gln)
|
rs142782021
|
|
NM_003793.4(CTSF):c.64G>T (p.Ala22Ser)
|
|
|
NM_003793.4(CTSF):c.76G>C (p.Ala26Pro)
|
|
|
NM_003793.4(CTSF):c.888G>T (p.Trp296Cys)
|
|
|
NM_003793.4(CTSF):c.955T>G (p.Ser319Ala)
|
rs1857917135
|
|
NM_003793.4(CTSF):c.956C>T (p.Ser319Phe)
|
|
|
NM_003793.4(CTSF):c.988G>A (p.Asp330Asn)
|
rs750069810
|
|
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe)
|
rs154774635
|
|
NM_017882.3(CLN6):c.158T>G (p.Leu53Arg)
|
|
|
NM_017882.3(CLN6):c.349ATC[2] (p.Ile119del)
|
rs886051447
|
|
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly)
|
rs772893554
|
|
NM_017882.3(CLN6):c.437T>C (p.Leu146Pro)
|
rs1595818249
|
|
NM_017882.3(CLN6):c.443T>A (p.Val148Asp)
|
rs1555438678
|
|
NM_017882.3(CLN6):c.506T>C (p.Leu169Pro)
|
rs1344658850
|
|
NM_017882.3(CLN6):c.587G>T (p.Cys196Phe)
|
rs2093199089
|
|
NM_017882.3(CLN6):c.659A>C (p.Tyr220Ser)
|
rs2093198812
|
|
NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys)
|
rs764571295
|
|
NM_017882.3(CLN6):c.702C>A (p.Phe234Leu)
|
rs1555438267
|
|
NM_017882.3(CLN6):c.723G>T (p.Met241Ile)
|
rs149262877
|
|
NM_017882.3(CLN6):c.775G>C (p.Gly259Arg)
|
rs150363441
|
|
NM_017882.3(CLN6):c.775G>T (p.Gly259Cys)
|
rs150363441
|
|
NM_017882.3(CLN6):c.883T>C (p.Tyr295His)
|
|
|
NM_017882.3(CLN6):c.909C>A (p.Tyr303Ter)
|
rs1448520404
|
|
NM_017882.3(CLN6):c.919G>A (p.Val307Ile)
|
rs146801142
|
|
NM_025219.3(DNAJC5):c.*135C>T
|
rs886056937
|
|
NM_025219.3(DNAJC5):c.*1391G>C
|
rs886056944
|
|
NM_025219.3(DNAJC5):c.*177T>C
|
rs2053674149
|
|
NM_025219.3(DNAJC5):c.*1836C>T
|
rs752208413
|
|
NM_025219.3(DNAJC5):c.*1895C>G
|
rs886056945
|
|
NM_025219.3(DNAJC5):c.*2191G>C
|
rs550048168
|
|
NM_025219.3(DNAJC5):c.*2385G>T
|
rs2053695885
|
|
NM_025219.3(DNAJC5):c.*243G>A
|
rs886056938
|
|
NM_025219.3(DNAJC5):c.*2482G>C
|
rs1300822328
|
|
NM_025219.3(DNAJC5):c.*273C>G
|
rs886056939
|
|
NM_025219.3(DNAJC5):c.*2849A>G
|
rs978741488
|
|
NM_025219.3(DNAJC5):c.*2913G>A
|
rs539536316
|
|
NM_025219.3(DNAJC5):c.*2980C>A
|
rs1600892537
|
|
NM_025219.3(DNAJC5):c.*2983C>T
|
rs1251113332
|
|
NM_025219.3(DNAJC5):c.*298C>T
|
rs915298444
|
|
NM_025219.3(DNAJC5):c.*3009G>A
|
rs886056948
|
|
NM_025219.3(DNAJC5):c.*3184G>A
|
rs185738914
|
|
NM_025219.3(DNAJC5):c.*3215C>G
|
rs999925805
|
|
NM_025219.3(DNAJC5):c.*3224C>T
|
rs2053704300
|
|
NM_025219.3(DNAJC5):c.*3239C>T
|
rs886056950
|
|
NM_025219.3(DNAJC5):c.*3252G>A
|
rs545688443
|
|
NM_025219.3(DNAJC5):c.*3608G>C
|
rs2053707906
|
|
NM_025219.3(DNAJC5):c.*4070C>T
|
rs3810500
|
|
NM_025219.3(DNAJC5):c.*412C>T
|
rs886056941
|
|
NM_025219.3(DNAJC5):c.*4253C>G
|
rs886056955
|
|
NM_025219.3(DNAJC5):c.*458G>A
|
rs941396645
|
|
NM_025219.3(DNAJC5):c.*486G>A
|
rs2053677825
|
|
NM_025219.3(DNAJC5):c.*66C>T
|
rs2053672735
|
|
NM_025219.3(DNAJC5):c.*853C>A
|
rs6011230
|
|
NM_025219.3(DNAJC5):c.*853C>T
|
rs6011230
|
|
NM_025219.3(DNAJC5):c.*948G>A
|
rs867566418
|
|
NM_025219.3(DNAJC5):c.-12+15G>T
|
rs2053366716
|
|
NM_025219.3(DNAJC5):c.-194C>T
|
rs886056925
|
|
NM_025219.3(DNAJC5):c.-89C>G
|
rs886056933
|
|
NM_025219.3(DNAJC5):c.107+8G>T
|
rs2053633876
|
|
NM_025219.3(DNAJC5):c.153G>T (p.Pro51=)
|
rs151265913
|
|
NM_025219.3(DNAJC5):c.438G>A (p.Thr146=)
|
rs746222594
|
|
NM_025219.3(DNAJC5):c.482C>G (p.Ser161Cys)
|
|
|
NM_025219.3(DNAJC5):c.493+1dup
|
|
|
NM_025219.3(DNAJC5):c.504C>T (p.Asp168=)
|
rs886056935
|
|