NM_002087.4(GRN):c.970G>A (p.Ala324Thr)
|
rs63750541
|
0.00112
|
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu)
|
rs757712173
|
0.00067
|
NM_006493.4(CLN5):c.459G>A (p.Met153Ile)
|
rs144656959
|
0.00058
|
NM_000521.4(HEXB):c.715G>A (p.Val239Ile)
|
rs145056714
|
0.00051
|
NM_022089.4(ATP13A2):c.2972G>A (p.Arg991Gln)
|
rs145548316
|
0.00050
|
NM_000784.4(CYP27A1):c.958C>T (p.Leu320Phe)
|
rs367855115
|
0.00038
|
NM_002087.4(GRN):c.1180-3C>T
|
rs368307425
|
0.00036
|
NM_022089.4(ATP13A2):c.1039+6C>T
|
rs565724504
|
0.00035
|
NM_006493.4(CLN5):c.265G>A (p.Asp89Asn)
|
rs138110438
|
0.00034
|
NM_001042432.2(CLN3):c.776C>T (p.Pro259Leu)
|
rs137858807
|
0.00031
|
NM_002087.4(GRN):c.635G>A (p.Arg212Gln)
|
rs63750787
|
0.00029
|
NM_022089.4(ATP13A2):c.1244G>A (p.Arg415Gln)
|
rs190746040
|
0.00029
|
NM_022089.4(ATP13A2):c.1352G>A (p.Arg451Gln)
|
rs138546275
|
0.00029
|
NM_003793.4(CTSF):c.1315G>A (p.Gly439Ser)
|
rs140795906
|
0.00028
|
NM_006493.4(CLN5):c.1045C>T (p.Pro349Ser)
|
rs41287036
|
0.00026
|
NM_022089.4(ATP13A2):c.2404G>A (p.Gly802Ser)
|
rs752487771
|
0.00025
|
NM_018941.4(CLN8):c.112G>A (p.Val38Ile)
|
rs370199508
|
0.00024
|
NM_001042432.2(CLN3):c.616G>A (p.Gly206Ser)
|
rs370603922
|
0.00023
|
NM_017882.3(CLN6):c.100G>A (p.Ala34Thr)
|
rs146198681
|
0.00022
|
NM_006493.4(CLN5):c.656A>C (p.Glu219Ala)
|
rs11842935
|
0.00021
|
NM_000784.4(CYP27A1):c.1028C>T (p.Thr343Met)
|
rs372194079
|
0.00020
|
NM_018941.4(CLN8):c.619C>G (p.Leu207Val)
|
rs151334741
|
0.00020
|
NM_003793.4(CTSF):c.19C>T (p.Leu7Phe)
|
rs544669445
|
0.00019
|
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_002087.4(GRN):c.287A>G (p.His96Arg)
|
rs139272628
|
0.00018
|
NM_001042432.2(CLN3):c.392G>A (p.Ser131Asn)
|
rs144770450
|
0.00017
|
NM_000520.6(HEXA):c.1475A>G (p.Asp492Gly)
|
rs761736583
|
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_000520.6(HEXA):c.1229C>T (p.Ala410Val)
|
rs151251788
|
0.00015
|
NM_000784.4(CYP27A1):c.784C>T (p.Arg262Cys)
|
rs778371330
|
0.00015
|
NM_001042432.2(CLN3):c.1027C>T (p.Arg343Cys)
|
rs201407601
|
0.00015
|
NM_006493.4(CLN5):c.19A>G (p.Thr7Ala)
|
rs541501705
|
0.00015
|
NM_022089.4(ATP13A2):c.1108C>T (p.Arg370Trp)
|
rs142616130
|
0.00015
|
NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln)
|
rs138189735
|
0.00014
|
NM_001909.5(CTSD):c.758A>G (p.Lys253Arg)
|
rs138191189
|
0.00014
|
NM_022089.4(ATP13A2):c.3472C>T (p.Arg1158Cys)
|
rs201610681
|
0.00014
|
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile)
|
rs202073338
|
0.00013
|
NM_001909.5(CTSD):c.142G>A (p.Ala48Thr)
|
rs555516403
|
0.00013
|
NM_022089.4(ATP13A2):c.2951C>T (p.Ala984Val)
|
rs375552345
|
0.00013
|
NM_022089.4(ATP13A2):c.3040G>A (p.Gly1014Ser)
|
rs202166353
|
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_022089.4(ATP13A2):c.1171G>A (p.Val391Ile)
|
rs113105667
|
0.00012
|
NM_022089.4(ATP13A2):c.356C>T (p.Pro119Leu)
|
rs752619582
|
0.00012
|
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro)
|
rs146938346
|
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_001909.5(CTSD):c.592A>G (p.Ile198Val)
|
rs556334193
|
0.00011
|
NM_017882.3(CLN6):c.41G>A (p.Gly14Asp)
|
rs994590268
|
0.00011
|
NM_018941.4(CLN8):c.599T>C (p.Met200Thr)
|
rs368646951
|
0.00011
|
NM_022089.4(ATP13A2):c.2593G>A (p.Glu865Lys)
|
rs148534162
|
0.00011
|
NM_022089.4(ATP13A2):c.3439C>T (p.Arg1147Cys)
|
rs370421723
|
0.00011
|
NM_025219.3(DNAJC5):c.188C>T (p.Ala63Val)
|
rs139312819
|
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_001042432.2(CLN3):c.1163C>T (p.Ala388Val)
|
rs148514847
|
0.00010
|
NM_001042432.2(CLN3):c.361C>G (p.Leu121Val)
|
rs752282954
|
0.00010
|
NM_001042432.2(CLN3):c.938T>C (p.Leu313Pro)
|
rs141816714
|
0.00010
|
NM_001909.5(CTSD):c.14G>C (p.Ser5Thr)
|
rs764386803
|
0.00010
|
NM_001909.5(CTSD):c.614G>A (p.Arg205His)
|
rs371522391
|
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_017882.3(CLN6):c.136G>A (p.Asp46Asn)
|
rs147623032
|
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.776A>G (p.Asn259Ser)
|
rs201956727
|
0.00010
|
NM_022089.4(ATP13A2):c.233G>A (p.Arg78Gln)
|
rs773087322
|
0.00010
|
NM_022089.4(ATP13A2):c.839A>G (p.Lys280Arg)
|
rs148094721
|
0.00010
|
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser)
|
rs200936836
|
0.00009
|
NM_000520.6(HEXA):c.38C>T (p.Ala13Val)
|
rs145666272
|
0.00009
|
NM_001042432.2(CLN3):c.649C>A (p.Leu217Met)
|
rs150913606
|
0.00009
|
NM_001042432.2(CLN3):c.754C>T (p.Pro252Ser)
|
rs769104531
|
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_006493.4(CLN5):c.-83G>T
|
rs576642281
|
0.00009
|
NM_006493.4(CLN5):c.1019A>C (p.Lys340Thr)
|
rs745767054
|
0.00009
|
NM_006493.4(CLN5):c.812A>G (p.Asn271Ser)
|
rs199609750
|
0.00009
|
NM_018941.4(CLN8):c.455A>G (p.Asn152Ser)
|
rs138581191
|
0.00009
|
NM_022089.4(ATP13A2):c.2771G>A (p.Arg924His)
|
rs564643512
|
0.00009
|
NM_022089.4(ATP13A2):c.880C>T (p.Arg294Trp)
|
rs144898239
|
0.00009
|
NM_000784.4(CYP27A1):c.1297C>T (p.Arg433Trp)
|
rs143002163
|
0.00008
|
NM_000784.4(CYP27A1):c.446C>T (p.Thr149Met)
|
rs776992864
|
0.00008
|
NM_002087.4(GRN):c.229G>A (p.Val77Ile)
|
rs148531161
|
0.00008
|
NM_006493.2(CLN5):c.52C>T (p.Gln18Ter)
|
rs773979248
|
0.00008
|
NM_006493.4(CLN5):c.-47C>G
|
rs937545860
|
0.00008
|
NM_022089.4(ATP13A2):c.2236G>A (p.Ala746Thr)
|
rs147277743
|
0.00008
|
NM_022089.4(ATP13A2):c.3320C>T (p.Ala1107Val)
|
rs755307953
|
0.00008
|
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.878T>C (p.Met293Thr)
|
rs368735609
|
0.00007
|
NM_001042432.2(CLN3):c.250C>A (p.His84Asn)
|
rs201329358
|
0.00007
|
NM_006493.4(CLN5):c.569A>G (p.Asn190Ser)
|
rs369100769
|
0.00007
|
NM_018941.4(CLN8):c.856C>T (p.Pro286Ser)
|
rs759475160
|
0.00007
|
NM_022089.4(ATP13A2):c.1658G>A (p.Arg553Gln)
|
rs376011760
|
0.00007
|
NM_022089.4(ATP13A2):c.2326G>C (p.Val776Leu)
|
rs56170027
|
0.00007
|
NM_022089.4(ATP13A2):c.3193G>A (p.Val1065Met)
|
rs377431904
|
0.00007
|
NM_022089.4(ATP13A2):c.3409G>A (p.Val1137Met)
|
rs528943677
|
0.00007
|
NM_022089.4(ATP13A2):c.3539G>A (p.Arg1180Lys)
|
rs771312962
|
0.00007
|
NM_025219.3(DNAJC5):c.565C>T (p.His189Tyr)
|
rs377119075
|
0.00007
|
NM_000520.6(HEXA):c.1237C>T (p.Arg413Trp)
|
rs762494949
|
0.00006
|
NM_000520.6(HEXA):c.286G>A (p.Val96Ile)
|
rs868358306
|
0.00006
|
NM_000520.6(HEXA):c.764C>G (p.Ala255Gly)
|
rs370576428
|
0.00006
|
NM_000784.4(CYP27A1):c.425T>C (p.Leu142Pro)
|
rs369363177
|
0.00006
|
NM_000784.4(CYP27A1):c.546T>G (p.Ile182Met)
|
rs149366157
|
0.00006
|
NM_000784.4(CYP27A1):c.83A>C (p.Lys28Thr)
|
rs371449777
|
0.00006
|
NM_001042432.2(CLN3):c.1012C>T (p.Arg338Cys)
|
rs776725094
|
0.00006
|
NM_001042432.2(CLN3):c.1120G>A (p.Val374Ile)
|
rs759049027
|
0.00006
|
NM_001042432.2(CLN3):c.1229C>T (p.Ala410Val)
|
rs369801432
|
0.00006
|
NM_001042432.2(CLN3):c.222T>C (p.His74=)
|
rs201225986
|
0.00006
|
NM_001042432.2(CLN3):c.244A>T (p.Ile82Phe)
|
rs370020452
|
0.00006
|
NM_001042432.2(CLN3):c.290C>T (p.Thr97Met)
|
rs376421578
|
0.00006
|
NM_001909.5(CTSD):c.1084G>A (p.Gly362Arg)
|
rs746733183
|
0.00006
|
NM_001909.5(CTSD):c.184G>A (p.Val62Met)
|
rs756892066
|
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_006493.4(CLN5):c.1048A>G (p.Ile350Val)
|
rs762333226
|
0.00006
|
NM_006493.4(CLN5):c.152G>A (p.Arg51His)
|
rs367952803
|
0.00006
|
NM_006493.4(CLN5):c.662G>A (p.Gly221Glu)
|
rs368428437
|
0.00006
|
NM_017882.3(CLN6):c.11C>T (p.Thr4Met)
|
rs1017662486
|
0.00006
|
NM_017882.3(CLN6):c.271G>A (p.Val91Ile)
|
rs140519790
|
0.00006
|
NM_017882.3(CLN6):c.278C>T (p.Thr93Met)
|
rs150001589
|
0.00006
|
NM_017882.3(CLN6):c.316C>T (p.Arg106Cys)
|
rs202226970
|
0.00006
|
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys)
|
rs747229909
|
0.00006
|
NM_017882.3(CLN6):c.728C>T (p.Ala243Val)
|
rs767164948
|
0.00006
|
NM_017882.3(CLN6):c.799G>A (p.Ala267Thr)
|
rs374613712
|
0.00006
|
NM_018941.4(CLN8):c.287C>T (p.Ala96Val)
|
rs775400768
|
0.00006
|
NM_022089.4(ATP13A2):c.1064C>T (p.Thr355Met)
|
rs555691965
|
0.00006
|
NM_022089.4(ATP13A2):c.1243C>T (p.Arg415Trp)
|
rs768796427
|
0.00006
|
NM_022089.4(ATP13A2):c.1895C>T (p.Ser632Leu)
|
rs376070950
|
0.00006
|
NM_022089.4(ATP13A2):c.1925C>T (p.Ala642Val)
|
rs147260398
|
0.00006
|
NM_022089.4(ATP13A2):c.212G>T (p.Trp71Leu)
|
rs373607247
|
0.00006
|
NM_022089.4(ATP13A2):c.2663C>T (p.Ala888Val)
|
rs190323680
|
0.00006
|
NM_022089.4(ATP13A2):c.3257C>T (p.Ala1086Val)
|
rs370677966
|
0.00006
|
NM_022089.4(ATP13A2):c.461C>T (p.Ala154Val)
|
rs376169767
|
0.00006
|
NM_022089.4(ATP13A2):c.778G>A (p.Ala260Thr)
|
rs761338717
|
0.00006
|
NM_025219.3(DNAJC5):c.524C>T (p.Pro175Leu)
|
rs761982169
|
0.00006
|
NM_000520.6(HEXA):c.1421+4A>G
|
rs953579005
|
0.00005
|
NM_000520.6(HEXA):c.53G>A (p.Gly18Glu)
|
rs371133961
|
0.00005
|
NM_000784.4(CYP27A1):c.1185-3C>A
|
rs373628198
|
0.00005
|
NM_000784.4(CYP27A1):c.151C>T (p.Arg51Trp)
|
rs570721628
|
0.00005
|
NM_000784.4(CYP27A1):c.283A>G (p.Met95Val)
|
rs372772968
|
0.00005
|
NM_000784.4(CYP27A1):c.472C>T (p.Arg158Cys)
|
rs774541162
|
0.00005
|
NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp)
|
rs61733615
|
0.00005
|
NM_000784.4(CYP27A1):c.61T>C (p.Cys21Arg)
|
rs751804153
|
0.00005
|
NM_001042432.2(CLN3):c.101A>G (p.His34Arg)
|
rs759668300
|
0.00005
|
NM_001042432.2(CLN3):c.32T>C (p.Phe11Ser)
|
rs752205710
|
0.00005
|
NM_001042432.2(CLN3):c.418G>A (p.Val140Ile)
|
rs373034150
|
0.00005
|
NM_001042432.2(CLN3):c.626C>T (p.Pro209Leu)
|
rs139417824
|
0.00005
|
NM_001909.5(CTSD):c.1071+6C>T
|
rs759803379
|
0.00005
|
NM_001909.5(CTSD):c.1208G>C (p.Arg403Thr)
|
rs779858404
|
0.00005
|
NM_001909.5(CTSD):c.505C>G (p.Leu169Val)
|
rs768487717
|
0.00005
|
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_006493.4(CLN5):c.-21G>A
|
rs529998879
|
0.00005
|
NM_017882.3(CLN6):c.749G>A (p.Arg250His)
|
rs554594996
|
0.00005
|
NM_017882.3(CLN6):c.832G>A (p.Ala278Thr)
|
rs143728911
|
0.00005
|
NM_022089.4(ATP13A2):c.157G>A (p.Val53Met)
|
rs142699829
|
0.00005
|
NM_022089.4(ATP13A2):c.2260C>G (p.Leu754Val)
|
rs139909551
|
0.00005
|
NM_022089.4(ATP13A2):c.601C>T (p.Arg201Cys)
|
rs760715676
|
0.00005
|
NM_022089.4(ATP13A2):c.658G>A (p.Val220Met)
|
rs367693423
|
0.00005
|
NM_022089.4(ATP13A2):c.943G>A (p.Gly315Arg)
|
rs150519745
|
0.00005
|
NM_022089.4(ATP13A2):c.994G>A (p.Ala332Thr)
|
rs141816878
|
0.00005
|
NM_000520.6(HEXA):c.1084A>G (p.Ile362Val)
|
rs771447407
|
0.00004
|
NM_000520.6(HEXA):c.706G>A (p.Ala236Thr)
|
rs757119445
|
0.00004
|
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser)
|
rs121907982
|
0.00004
|
NM_000784.4(CYP27A1):c.1582C>T (p.Gln528Ter)
|
rs376609492
|
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_001042432.2(CLN3):c.239C>T (p.Thr80Met)
|
rs775999656
|
0.00004
|
NM_001042432.2(CLN3):c.460+3G>A
|
rs779238243
|
0.00004
|
NM_001042432.2(CLN3):c.568G>A (p.Gly190Arg)
|
rs1311480802
|
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.299C>T (p.Ser100Phe)
|
rs796052407
|
0.00004
|
NM_001909.5(CTSD):c.376G>A (p.Asp126Asn)
|
rs796052401
|
0.00004
|
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu)
|
rs587779409
|
0.00004
|
NM_001909.5(CTSD):c.704+6C>T
|
rs370847523
|
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_006493.4(CLN5):c.1A>T (p.Met1Leu)
|
rs371624826
|
0.00004
|
NM_017882.3(CLN6):c.103G>A (p.Asp35Asn)
|
rs533231370
|
0.00004
|
NM_017882.3(CLN6):c.259A>G (p.Met87Val)
|
rs532180601
|
0.00004
|
NM_017882.3(CLN6):c.328C>T (p.Arg110Cys)
|
rs143928329
|
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_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.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_018941.4(CLN8):c.844C>T (p.Arg282Trp)
|
rs587780898
|
0.00004
|
NM_022089.4(ATP13A2):c.1542+3G>A
|
rs747456787
|
0.00004
|
NM_022089.4(ATP13A2):c.1630C>T (p.Arg544Cys)
|
rs893985839
|
0.00004
|
NM_022089.4(ATP13A2):c.1766C>T (p.Pro589Leu)
|
rs758992649
|
0.00004
|
NM_022089.4(ATP13A2):c.2407G>A (p.Val803Ile)
|
rs747785443
|
0.00004
|
NM_022089.4(ATP13A2):c.2412G>A (p.Lys804=)
|
rs978493820
|
0.00004
|
NM_022089.4(ATP13A2):c.2558G>A (p.Arg853His)
|
rs745954026
|
0.00004
|
NM_022089.4(ATP13A2):c.25G>A (p.Val9Met)
|
rs143579092
|
0.00004
|
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met)
|
rs768674400
|
0.00004
|
NM_022089.4(ATP13A2):c.2828C>T (p.Thr943Ile)
|
rs1401431520
|
0.00004
|
NM_022089.4(ATP13A2):c.3112G>A (p.Ala1038Thr)
|
rs757076945
|
0.00004
|
NM_022089.4(ATP13A2):c.3215G>A (p.Arg1072His)
|
rs371220869
|
0.00004
|
NM_022089.4(ATP13A2):c.3442C>T (p.Arg1148Cys)
|
rs759327218
|
0.00004
|
NM_022089.4(ATP13A2):c.3443G>A (p.Arg1148His)
|
rs533548757
|
0.00004
|
NM_022089.4(ATP13A2):c.374C>G (p.Ala125Gly)
|
rs1050244144
|
0.00004
|
NM_022089.4(ATP13A2):c.394G>A (p.Ala132Thr)
|
rs200934541
|
0.00004
|
NM_022089.4(ATP13A2):c.649G>A (p.Gly217Ser)
|
rs199961048
|
0.00004
|
NM_022089.4(ATP13A2):c.722A>G (p.Tyr241Cys)
|
rs1221004929
|
0.00004
|
NM_000520.6(HEXA):c.1073+4A>G
|
rs780502991
|
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_000784.4(CYP27A1):c.1286A>G (p.Tyr429Cys)
|
rs774127681
|
0.00003
|
NM_000784.4(CYP27A1):c.1556A>G (p.Asn519Ser)
|
rs371510438
|
0.00003
|
NM_000784.4(CYP27A1):c.20C>T (p.Ala7Val)
|
rs1364383591
|
0.00003
|
NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met)
|
rs370498798
|
0.00003
|
NM_000784.4(CYP27A1):c.373C>G (p.Pro125Ala)
|
rs1046723537
|
0.00003
|
NM_000784.4(CYP27A1):c.376G>C (p.Val126Leu)
|
rs773892447
|
0.00003
|
NM_000784.4(CYP27A1):c.473G>A (p.Arg158His)
|
rs761927223
|
0.00003
|
NM_000784.4(CYP27A1):c.674G>A (p.Arg225His)
|
rs753275244
|
0.00003
|
NM_000784.4(CYP27A1):c.808C>G (p.Arg270Gly)
|
rs72551318
|
0.00003
|
NM_000784.4(CYP27A1):c.809G>A (p.Arg270Gln)
|
rs556715266
|
0.00003
|
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys)
|
rs190012697
|
0.00003
|
NM_000784.4(CYP27A1):c.967C>T (p.Arg323Trp)
|
rs371603253
|
0.00003
|
NM_001042432.2(CLN3):c.1028G>A (p.Arg343His)
|
rs771305783
|
0.00003
|
NM_001042432.2(CLN3):c.1086C>G (p.Asp362Glu)
|
rs376907245
|
0.00003
|
NM_001042432.2(CLN3):c.1087G>A (p.Val363Met)
|
rs370963882
|
0.00003
|
NM_001042432.2(CLN3):c.1203T>A (p.Ser401Arg)
|
rs764585366
|
0.00003
|
NM_001042432.2(CLN3):c.1240A>G (p.Ile414Val)
|
rs146124686
|
0.00003
|
NM_001042432.2(CLN3):c.1262C>T (p.Ser421Phe)
|
rs778225078
|
0.00003
|
NM_001042432.2(CLN3):c.206C>T (p.Ser69Leu)
|
rs769840061
|
0.00003
|
NM_001042432.2(CLN3):c.319C>T (p.Pro107Ser)
|
rs149095062
|
0.00003
|
NM_001042432.2(CLN3):c.461-3C>A
|
rs181995380
|
0.00003
|
NM_001042432.2(CLN3):c.47-3C>T
|
rs377583228
|
0.00003
|
NM_001042432.2(CLN3):c.644C>A (p.Ser215Tyr)
|
rs1328657534
|
0.00003
|
NM_001042432.2(CLN3):c.859C>T (p.Pro287Ser)
|
rs796052341
|
0.00003
|
NM_001909.5(CTSD):c.511G>A (p.Gly171Ser)
|
rs775460488
|
0.00003
|
NM_001909.5(CTSD):c.69-17C>A
|
rs371858126
|
0.00003
|
NM_001909.5(CTSD):c.74C>T (p.Pro25Leu)
|
rs145852974
|
0.00003
|
NM_001909.5(CTSD):c.817C>T (p.His273Tyr)
|
rs145905196
|
0.00003
|
NM_001909.5(CTSD):c.969C>T (p.Gly323=)
|
rs774332555
|
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_006493.2(CLN5):c.116C>G (p.Ser39Trp)
|
rs61504484
|
0.00003
|
NM_006493.2(CLN5):c.22G>C (p.Gly8Arg)
|
rs762873839
|
0.00003
|
NM_006493.4(CLN5):c.-123C>T
|
rs767048749
|
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.136G>T (p.Gly46Cys)
|
rs775102823
|
0.00003
|
NM_006493.4(CLN5):c.176G>A (p.Arg59His)
|
rs753197537
|
0.00003
|
NM_006493.4(CLN5):c.304T>G (p.Trp102Gly)
|
rs1048147140
|
0.00003
|
NM_006493.4(CLN5):c.371G>A (p.Ser124Asn)
|
rs369122820
|
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_006493.4(CLN5):c.960G>C (p.Gln320His)
|
rs1455002686
|
0.00003
|
NM_017882.3(CLN6):c.329G>A (p.Arg110His)
|
rs140179213
|
0.00003
|
NM_017882.3(CLN6):c.338C>T (p.Thr113Met)
|
rs758830997
|
0.00003
|
NM_017882.3(CLN6):c.446G>A (p.Arg149His)
|
rs154774638
|
0.00003
|
NM_017882.3(CLN6):c.583G>A (p.Gly195Ser)
|
rs747575187
|
0.00003
|
NM_017882.3(CLN6):c.634C>T (p.Leu212Phe)
|
rs751562146
|
0.00003
|
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)
|
rs764571295
|
0.00003
|
NM_017882.3(CLN6):c.821C>T (p.Ala274Val)
|
rs202012876
|
0.00003
|
NM_017882.3(CLN6):c.872C>T (p.Pro291Leu)
|
rs373652272
|
0.00003
|
NM_018941.4(CLN8):c.137C>A (p.Ser46Tyr)
|
rs1418349889
|
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.470A>G (p.His157Arg)
|
rs149308952
|
0.00003
|
NM_018941.4(CLN8):c.503T>C (p.Met168Thr)
|
rs374031055
|
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_022089.4(ATP13A2):c.1103C>T (p.Thr368Ile)
|
rs1033088325
|
0.00003
|
NM_022089.4(ATP13A2):c.1545G>A (p.Thr515=)
|
rs373005131
|
0.00003
|
NM_022089.4(ATP13A2):c.1634G>A (p.Arg545His)
|
rs200337290
|
0.00003
|
NM_022089.4(ATP13A2):c.265G>A (p.Val89Ile)
|
rs534590083
|
0.00003
|
NM_022089.4(ATP13A2):c.2681C>T (p.Ser894Leu)
|
rs376348581
|
0.00003
|
NM_022089.4(ATP13A2):c.2978C>T (p.Pro993Leu)
|
rs146559160
|
0.00003
|
NM_022089.4(ATP13A2):c.3059A>G (p.Tyr1020Cys)
|
rs372182128
|
0.00003
|
NM_022089.4(ATP13A2):c.3329A>G (p.Asn1110Ser)
|
rs758675397
|
0.00003
|
NM_022089.4(ATP13A2):c.431A>T (p.Asp144Val)
|
rs145031260
|
0.00003
|
NM_022089.4(ATP13A2):c.574C>T (p.Arg192Cys)
|
rs372857244
|
0.00003
|
NM_025219.3(DNAJC5):c.340G>A (p.Gly114Ser)
|
rs995618637
|
0.00003
|
NM_025219.3(DNAJC5):c.389A>G (p.Asn130Ser)
|
rs761814066
|
0.00003
|
NM_025219.3(DNAJC5):c.509C>T (p.Pro170Leu)
|
rs770758533
|
0.00003
|
NM_000520.6(HEXA):c.1256C>G (p.Pro419Arg)
|
rs772431056
|
0.00002
|
NM_000520.6(HEXA):c.1302C>G (p.Phe434Leu)
|
rs202173526
|
0.00002
|
NM_000520.6(HEXA):c.1421G>T (p.Trp474Leu)
|
rs762374961
|
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.616G>A (p.Val206Ile)
|
rs543071358
|
0.00002
|
NM_000520.6(HEXA):c.64G>A (p.Ala22Thr)
|
rs756218457
|
0.00002
|
NM_000521.4(HEXB):c.1040A>T (p.Gln347Leu)
|
rs754108567
|
0.00002
|
NM_000521.4(HEXB):c.1614-16_1615dup
|
rs1554037309
|
0.00002
|
NM_000521.4(HEXB):c.311A>G (p.Tyr104Cys)
|
rs762209256
|
0.00002
|
NM_000784.4(CYP27A1):c.1083G>T (p.Leu361Phe)
|
rs1215745374
|
0.00002
|
NM_000784.4(CYP27A1):c.1298G>A (p.Arg433Gln)
|
rs201107032
|
0.00002
|
NM_000784.4(CYP27A1):c.1373C>T (p.Pro458Leu)
|
rs781360671
|
0.00002
|
NM_000784.4(CYP27A1):c.1494G>C (p.Lys498Asn)
|
rs377290147
|
0.00002
|
NM_000784.4(CYP27A1):c.368A>C (p.Lys123Thr)
|
rs778424069
|
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_001042432.2(CLN3):c.1305C>G (p.Cys435Trp)
|
rs1216521924
|
0.00002
|
NM_001042432.2(CLN3):c.197A>G (p.Lys66Arg)
|
rs769447444
|
0.00002
|
NM_001042432.2(CLN3):c.380G>A (p.Arg127Gln)
|
rs780776829
|
0.00002
|
NM_001042432.2(CLN3):c.641T>C (p.Leu214Pro)
|
rs749609898
|
0.00002
|
NM_001042432.2(CLN3):c.748C>T (p.Arg250Trp)
|
rs764881080
|
0.00002
|
NM_001042432.2(CLN3):c.749G>A (p.Arg250Gln)
|
rs374217931
|
0.00002
|
NM_001042432.2(CLN3):c.814C>T (p.Arg272Trp)
|
rs113041302
|
0.00002
|
NM_001042432.2(CLN3):c.815G>A (p.Arg272Gln)
|
rs145270402
|
0.00002
|
NM_001042432.2(CLN3):c.946G>A (p.Ala316Thr)
|
rs780974004
|
0.00002
|
NM_001909.5(CTSD):c.1076C>T (p.Ser359Leu)
|
rs545364302
|
0.00002
|
NM_001909.5(CTSD):c.19C>G (p.Leu7Val)
|
rs1470191996
|
0.00002
|
NM_001909.5(CTSD):c.215A>G (p.Lys72Arg)
|
rs1307108340
|
0.00002
|
NM_001909.5(CTSD):c.527G>A (p.Arg176Lys)
|
rs757688598
|
0.00002
|
NM_001909.5(CTSD):c.52G>A (p.Ala18Thr)
|
rs796052403
|
0.00002
|
NM_001909.5(CTSD):c.622G>A (p.Val208Ile)
|
rs778031733
|
0.00002
|
NM_001909.5(CTSD):c.68+6G>A
|
rs1011130987
|
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_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_006493.4(CLN5):c.892C>T (p.His298Tyr)
|
rs557876713
|
0.00002
|
NM_006493.4(CLN5):c.947T>C (p.Ile316Thr)
|
rs182060681
|
0.00002
|
NM_017882.3(CLN6):c.343G>A (p.Val115Met)
|
rs762232673
|
0.00002
|
NM_017882.3(CLN6):c.43G>T (p.Gly15Cys)
|
rs1057524348
|
0.00002
|
NM_017882.3(CLN6):c.482C>T (p.Thr161Met)
|
rs757734645
|
0.00002
|
NM_017882.3(CLN6):c.666-3C>T
|
rs761161043
|
0.00002
|
NM_017882.3(CLN6):c.929G>A (p.Arg310Gln)
|
rs769900670
|
0.00002
|
NM_017882.3(CLN6):c.94G>C (p.Val32Leu)
|
rs369041224
|
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_022089.4(ATP13A2):c.1099G>A (p.Glu367Lys)
|
rs770576740
|
0.00002
|
NM_022089.4(ATP13A2):c.1189C>T (p.Arg397Cys)
|
rs748309608
|
0.00002
|
NM_022089.4(ATP13A2):c.1321A>T (p.Ile441Phe)
|
rs772446950
|
0.00002
|
NM_022089.4(ATP13A2):c.1399G>A (p.Val467Met)
|
rs760443267
|
0.00002
|
NM_022089.4(ATP13A2):c.1442C>T (p.Thr481Met)
|
rs752000462
|
0.00002
|
NM_022089.4(ATP13A2):c.1633C>T (p.Arg545Cys)
|
rs750152147
|
0.00002
|
NM_022089.4(ATP13A2):c.1667C>T (p.Ala556Val)
|
rs760021599
|
0.00002
|
NM_022089.4(ATP13A2):c.1831C>A (p.Gln611Lys)
|
rs770682887
|
0.00002
|
NM_022089.4(ATP13A2):c.1847A>C (p.Glu616Ala)
|
rs558165485
|
0.00002
|
NM_022089.4(ATP13A2):c.1880G>A (p.Arg627His)
|
rs756516383
|
0.00002
|
NM_022089.4(ATP13A2):c.1896G>A (p.Ser632=)
|
rs575694238
|
0.00002
|
NM_022089.4(ATP13A2):c.196C>T (p.Arg66Cys)
|
rs768327980
|
0.00002
|
NM_022089.4(ATP13A2):c.220C>T (p.Arg74Trp)
|
rs753087058
|
0.00002
|
NM_022089.4(ATP13A2):c.221G>A (p.Arg74Gln)
|
rs767725094
|
0.00002
|
NM_022089.4(ATP13A2):c.2251+6A>C
|
rs773458244
|
0.00002
|
NM_022089.4(ATP13A2):c.2368G>A (p.Glu790Lys)
|
rs754208001
|
0.00002
|
NM_022089.4(ATP13A2):c.2797G>A (p.Val933Ile)
|
rs370356637
|
0.00002
|
NM_022089.4(ATP13A2):c.3001G>A (p.Val1001Met)
|
rs749677780
|
0.00002
|
NM_022089.4(ATP13A2):c.3218G>A (p.Arg1073Gln)
|
rs747907490
|
0.00002
|
NM_022089.4(ATP13A2):c.3458G>A (p.Arg1153Gln)
|
rs772666861
|
0.00002
|
NM_022089.4(ATP13A2):c.395C>T (p.Ala132Val)
|
rs764125787
|
0.00002
|
NM_022089.4(ATP13A2):c.490C>T (p.Arg164Trp)
|
rs199624796
|
0.00002
|
NM_022089.4(ATP13A2):c.518A>G (p.Tyr173Cys)
|
rs376963085
|
0.00002
|
NM_022089.4(ATP13A2):c.595C>T (p.Arg199Cys)
|
rs754074592
|
0.00002
|
NM_022089.4(ATP13A2):c.656A>G (p.Asn219Ser)
|
rs776406555
|
0.00002
|
NM_022089.4(ATP13A2):c.878T>C (p.Met293Thr)
|
rs772414750
|
0.00002
|
NM_022089.4(ATP13A2):c.889G>A (p.Val297Met)
|
rs771174890
|
0.00002
|
NM_025219.3(DNAJC5):c.229G>A (p.Asp77Asn)
|
rs762638579
|
0.00002
|
NM_025219.3(DNAJC5):c.437C>T (p.Thr146Met)
|
rs779453928
|
0.00002
|
NC_000013.11:g.76992031C>A
|
rs1168645936
|
0.00001
|
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser)
|
rs775322979
|
0.00001
|
NM_000520.6(HEXA):c.1091C>T (p.Ser364Phe)
|
rs781611898
|
0.00001
|
NM_000520.6(HEXA):c.1103A>G (p.Lys368Arg)
|
rs764291005
|
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.1309G>A (p.Val437Met)
|
rs2088616485
|
0.00001
|
NM_000520.6(HEXA):c.1319T>C (p.Leu440Pro)
|
rs752223090
|
0.00001
|
NM_000520.6(HEXA):c.132T>G (p.Phe44Leu)
|
rs1304040097
|
0.00001
|
NM_000520.6(HEXA):c.134A>C (p.Gln45Pro)
|
rs144089645
|
0.00001
|
NM_000520.6(HEXA):c.1375A>G (p.Met459Val)
|
rs547192168
|
0.00001
|
NM_000520.6(HEXA):c.140A>G (p.Gln47Arg)
|
rs1015834087
|
0.00001
|
NM_000520.6(HEXA):c.1438G>A (p.Val480Ile)
|
rs370638338
|
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.167C>T (p.Pro56Leu)
|
rs955535343
|
0.00001
|
NM_000520.6(HEXA):c.197A>G (p.Gln66Arg)
|
rs753442808
|
0.00001
|
NM_000520.6(HEXA):c.241C>A (p.Pro81Thr)
|
rs144231599
|
0.00001
|
NM_000520.6(HEXA):c.260G>A (p.Arg87Gln)
|
rs766966378
|
0.00001
|
NM_000520.6(HEXA):c.275A>G (p.Lys92Arg)
|
rs1208872523
|
0.00001
|
NM_000520.6(HEXA):c.325A>T (p.Thr109Ser)
|
rs1269110075
|
0.00001
|
NM_000520.6(HEXA):c.345T>G (p.Asn115Lys)
|
rs774220090
|
0.00001
|
NM_000520.6(HEXA):c.346+2dup
|
rs1430416918
|
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.388G>C (p.Glu130Gln)
|
rs917904407
|
0.00001
|
NM_000520.6(HEXA):c.410G>A (p.Arg137Gln)
|
rs769724246
|
0.00001
|
NM_000520.6(HEXA):c.503C>T (p.Pro168Leu)
|
rs1459050143
|
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_000520.6(HEXA):c.598G>A (p.Val200Met)
|
rs1800429
|
0.00001
|
NM_000520.6(HEXA):c.664A>C (p.Met222Leu)
|
rs768751360
|
0.00001
|
NM_000520.6(HEXA):c.740G>A (p.Arg247Gln)
|
rs1360213217
|
0.00001
|
NM_000520.6(HEXA):c.7A>G (p.Ser3Gly)
|
rs1277583383
|
0.00001
|
NM_000520.6(HEXA):c.884A>G (p.Asn295Ser)
|
rs199578185
|
0.00001
|
NM_000520.6(HEXA):c.901A>C (p.Met301Leu)
|
rs758871181
|
0.00001
|
NM_000520.6(HEXA):c.961G>A (p.Gly321Arg)
|
rs556877212
|
0.00001
|
NM_000520.6(HEXA):c.972T>A (p.Val324=)
|
rs28942072
|
0.00001
|
NM_000521.4(HEXB):c.1445T>C (p.Ile482Thr)
|
rs773007352
|
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.331T>C (p.Trp111Arg)
|
rs1193552297
|
0.00001
|
NM_000521.4(HEXB):c.584T>C (p.Ile195Thr)
|
rs765229504
|
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_000521.4(HEXB):c.878G>C (p.Gly293Ala)
|
rs1255790136
|
0.00001
|
NM_000784.4(CYP27A1):c.1017+4C>T
|
rs763008570
|
0.00001
|
NM_000784.4(CYP27A1):c.1059G>T (p.Lys353Asn)
|
rs372343607
|
0.00001
|
NM_000784.4(CYP27A1):c.1075G>C (p.Glu359Gln)
|
rs760471205
|
0.00001
|
NM_000784.4(CYP27A1):c.113A>T (p.Asp38Val)
|
rs1201499588
|
0.00001
|
NM_000784.4(CYP27A1):c.1162G>A (p.Ala388Thr)
|
rs1201958431
|
0.00001
|
NM_000784.4(CYP27A1):c.1175A>C (p.Glu392Ala)
|
rs1245201394
|
0.00001
|
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro)
|
rs1406298698
|
0.00001
|
NM_000784.4(CYP27A1):c.1195G>T (p.Val399Leu)
|
rs1453048118
|
0.00001
|
NM_000784.4(CYP27A1):c.1263C>T (p.Asn421=)
|
rs748358246
|
0.00001
|
NM_000784.4(CYP27A1):c.1309G>T (p.Ala437Ser)
|
rs1337764272
|
0.00001
|
NM_000784.4(CYP27A1):c.1334A>G (p.Gln445Arg)
|
rs765660985
|
0.00001
|
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys)
|
rs730882199
|
0.00001
|
NM_000784.4(CYP27A1):c.1349T>C (p.Leu450Pro)
|
rs1480110004
|
0.00001
|
NM_000784.4(CYP27A1):c.1369A>G (p.Thr457Ala)
|
rs373870129
|
0.00001
|
NM_000784.4(CYP27A1):c.1520A>T (p.Glu507Val)
|
rs767162764
|
0.00001
|
NM_000784.4(CYP27A1):c.1541T>C (p.Ile514Thr)
|
rs370013480
|
0.00001
|
NM_000784.4(CYP27A1):c.1553C>G (p.Pro518Arg)
|
rs143844199
|
0.00001
|
NM_000784.4(CYP27A1):c.1573C>A (p.Gln525Lys)
|
rs374507635
|
0.00001
|
NM_000784.4(CYP27A1):c.158G>T (p.Arg53Leu)
|
rs376993392
|
0.00001
|
NM_000784.4(CYP27A1):c.1591del (p.Cys531fs)
|
rs755723759
|
0.00001
|
NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys)
|
rs587780327
|
0.00001
|
NM_000784.4(CYP27A1):c.256-3C>T
|
rs1559391389
|
0.00001
|
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)
|
rs759003992
|
0.00001
|
NM_000784.4(CYP27A1):c.335C>T (p.Pro112Leu)
|
rs531504325
|
0.00001
|
NM_000784.4(CYP27A1):c.343G>C (p.Glu115Gln)
|
rs1298533109
|
0.00001
|
NM_000784.4(CYP27A1):c.38T>C (p.Leu13Pro)
|
rs1243753558
|
0.00001
|
NM_000784.4(CYP27A1):c.416A>G (p.Gln139Arg)
|
rs1253807962
|
0.00001
|
NM_000784.4(CYP27A1):c.443C>G (p.Thr148Ser)
|
rs1404621754
|
0.00001
|
NM_000784.4(CYP27A1):c.484A>C (p.Asn162His)
|
rs1235744900
|
0.00001
|
NM_000784.4(CYP27A1):c.56G>T (p.Gly19Val)
|
rs1203579586
|
0.00001
|
NM_000784.4(CYP27A1):c.577C>T (p.Arg193Trp)
|
rs1045858420
|
0.00001
|
NM_000784.4(CYP27A1):c.587G>T (p.Ser196Ile)
|
rs375643077
|
0.00001
|
NM_000784.4(CYP27A1):c.62G>A (p.Cys21Tyr)
|
rs757653354
|
0.00001
|
NM_000784.4(CYP27A1):c.667G>A (p.Glu223Lys)
|
rs760323157
|
0.00001
|
NM_000784.4(CYP27A1):c.68A>C (p.His23Pro)
|
rs1943398664
|
0.00001
|
NM_000784.4(CYP27A1):c.733G>A (p.Gly245Arg)
|
rs746666035
|
0.00001
|
NM_000784.4(CYP27A1):c.77G>A (p.Arg26Lys)
|
rs192494481
|
0.00001
|
NM_000784.4(CYP27A1):c.781A>G (p.Thr261Ala)
|
rs1271066819
|
0.00001
|
NM_000784.4(CYP27A1):c.788C>G (p.Pro263Arg)
|
rs1274003022
|
0.00001
|
NM_000784.4(CYP27A1):c.845-3C>T
|
rs768674577
|
0.00001
|
NM_000784.4(CYP27A1):c.84G>C (p.Lys28Asn)
|
rs958713867
|
0.00001
|
NM_000784.4(CYP27A1):c.866A>C (p.Lys289Thr)
|
rs371056722
|
0.00001
|
NM_000784.4(CYP27A1):c.883G>C (p.Ala295Pro)
|
rs371133296
|
0.00001
|
NM_000784.4(CYP27A1):c.968G>A (p.Arg323Gln)
|
rs769640126
|
0.00001
|
NM_001042432.2(CLN3):c.1013G>A (p.Arg338His)
|
rs557870972
|
0.00001
|
NM_001042432.2(CLN3):c.1017C>G (p.Cys339Trp)
|
rs768479701
|
0.00001
|
NM_001042432.2(CLN3):c.1021C>T (p.Arg341Cys)
|
rs775195638
|
0.00001
|
NM_001042432.2(CLN3):c.1033A>T (p.Thr345Ser)
|
rs150986176
|
0.00001
|
NM_001042432.2(CLN3):c.1132A>G (p.Ile378Val)
|
rs147658282
|
0.00001
|
NM_001042432.2(CLN3):c.1159G>A (p.Ala387Thr)
|
rs768614719
|
0.00001
|
NM_001042432.2(CLN3):c.1192C>G (p.Leu398Val)
|
rs751114018
|
0.00001
|
NM_001042432.2(CLN3):c.1214G>A (p.Arg405Gln)
|
rs747861558
|
0.00001
|
NM_001042432.2(CLN3):c.1225A>G (p.Met409Val)
|
rs776443981
|
0.00001
|
NM_001042432.2(CLN3):c.1234A>G (p.Thr412Ala)
|
rs1064795206
|
0.00001
|
NM_001042432.2(CLN3):c.1249A>G (p.Thr417Ala)
|
rs570472210
|
0.00001
|
NM_001042432.2(CLN3):c.125+6T>C
|
rs745440092
|
0.00001
|
NM_001042432.2(CLN3):c.1268C>T (p.Ser423Leu)
|
rs386833706
|
0.00001
|
NM_001042432.2(CLN3):c.146A>G (p.Asn49Ser)
|
rs1474384057
|
0.00001
|
NM_001042432.2(CLN3):c.152C>T (p.Ser51Phe)
|
rs780151271
|
0.00001
|
NM_001042432.2(CLN3):c.181G>A (p.Asp61Asn)
|
rs772851701
|
0.00001
|
NM_001042432.2(CLN3):c.196A>G (p.Lys66Glu)
|
rs963189449
|
0.00001
|
NM_001042432.2(CLN3):c.209G>A (p.Gly70Glu)
|
rs747526330
|
0.00001
|
NM_001042432.2(CLN3):c.223-3T>C
|
rs776314679
|
0.00001
|
NM_001042432.2(CLN3):c.253A>C (p.Asn85His)
|
rs996285915
|
0.00001
|
NM_001042432.2(CLN3):c.266G>A (p.Arg89Gln)
|
rs766287694
|
0.00001
|
NM_001042432.2(CLN3):c.277A>G (p.Asn93Asp)
|
rs761369095
|
0.00001
|
NM_001042432.2(CLN3):c.294+5G>A
|
rs780921389
|
0.00001
|
NM_001042432.2(CLN3):c.295-3C>T
|
rs767755377
|
0.00001
|
NM_001042432.2(CLN3):c.298G>C (p.Val100Leu)
|
rs1478662819
|
0.00001
|
NM_001042432.2(CLN3):c.308C>T (p.Ala103Val)
|
rs760039703
|
0.00001
|
NM_001042432.2(CLN3):c.328G>A (p.Val110Ile)
|
rs781534624
|
0.00001
|
NM_001042432.2(CLN3):c.331A>G (p.Ile111Val)
|
rs1331033517
|
0.00001
|
NM_001042432.2(CLN3):c.353G>A (p.Gly118Asp)
|
rs753305901
|
0.00001
|
NM_001042432.2(CLN3):c.379C>T (p.Arg127Trp)
|
rs201168980
|
0.00001
|
NM_001042432.2(CLN3):c.397A>G (p.Ile133Val)
|
rs1295659689
|
0.00001
|
NM_001042432.2(CLN3):c.436C>T (p.His146Tyr)
|
rs371590088
|
0.00001
|
NM_001042432.2(CLN3):c.437A>G (p.His146Arg)
|
rs1197989757
|
0.00001
|
NM_001042432.2(CLN3):c.464T>G (p.Val155Gly)
|
rs779304920
|
0.00001
|
NM_001042432.2(CLN3):c.47-11C>A
|
rs561083322
|
0.00001
|
NM_001042432.2(CLN3):c.538G>A (p.Val180Met)
|
rs202215629
|
0.00001
|
NM_001042432.2(CLN3):c.634A>G (p.Thr212Ala)
|
rs1335425316
|
0.00001
|
NM_001042432.2(CLN3):c.647T>A (p.Met216Lys)
|
rs773602052
|
0.00001
|
NM_001042432.2(CLN3):c.665T>A (p.Leu222Gln)
|
rs781613318
|
0.00001
|
NM_001042432.2(CLN3):c.67C>T (p.Pro23Ser)
|
rs757558651
|
0.00001
|
NM_001042432.2(CLN3):c.740G>A (p.Ser247Asn)
|
rs1295758958
|
0.00001
|
NM_001042432.2(CLN3):c.742G>A (p.Ala248Thr)
|
rs750008067
|
0.00001
|
NM_001042432.2(CLN3):c.752A>C (p.Gln251Pro)
|
rs776890506
|
0.00001
|
NM_001042432.2(CLN3):c.757C>G (p.Leu253Val)
|
rs776122422
|
0.00001
|
NM_001042432.2(CLN3):c.761T>C (p.Ile254Thr)
|
rs745948575
|
0.00001
|
NM_001042432.2(CLN3):c.769G>A (p.Glu257Lys)
|
rs771303379
|
0.00001
|
NM_001042432.2(CLN3):c.773C>T (p.Ala258Val)
|
rs780823167
|
0.00001
|
NM_001042432.2(CLN3):c.782C>T (p.Ser261Leu)
|
rs199627744
|
0.00001
|
NM_001042432.2(CLN3):c.7G>C (p.Gly3Arg)
|
rs1398814860
|
0.00001
|
NM_001042432.2(CLN3):c.837+5G>A
|
rs756848924
|
0.00001
|
NM_001042432.2(CLN3):c.850T>C (p.Tyr284His)
|
rs201090501
|
0.00001
|
NM_001042432.2(CLN3):c.860C>T (p.Pro287Leu)
|
rs1262182257
|
0.00001
|
NM_001042432.2(CLN3):c.871G>C (p.Val291Leu)
|
rs1218676230
|
0.00001
|
NM_001042432.2(CLN3):c.875A>G (p.Tyr292Cys)
|
rs755402909
|
0.00001
|
NM_001042432.2(CLN3):c.89A>G (p.His30Arg)
|
rs1399199073
|
0.00001
|
NM_001042432.2(CLN3):c.8G>A (p.Gly3Asp)
|
rs756062000
|
0.00001
|
NM_001042432.2(CLN3):c.958C>T (p.Arg320Cys)
|
rs768466445
|
0.00001
|
NM_001909.5(CTSD):c.101G>A (p.Arg34Gln)
|
rs1240316419
|
0.00001
|
NM_001909.5(CTSD):c.1028G>A (p.Gly343Glu)
|
rs796052406
|
0.00001
|
NM_001909.5(CTSD):c.1066C>T (p.Leu356Phe)
|
rs775579878
|
0.00001
|
NM_001909.5(CTSD):c.1069A>G (p.Lys357Glu)
|
rs765270800
|
0.00001
|
NM_001909.5(CTSD):c.1150A>G (p.Ile384Val)
|
rs767863175
|
0.00001
|
NM_001909.5(CTSD):c.1159G>A (p.Asp387Asn)
|
rs764522039
|
0.00001
|
NM_001909.5(CTSD):c.1222G>A (p.Glu408Lys)
|
rs554062876
|
0.00001
|
NM_001909.5(CTSD):c.1231C>T (p.Arg411Cys)
|
rs766987476
|
0.00001
|
NM_001909.5(CTSD):c.1232G>A (p.Arg411His)
|
rs200303993
|
0.00001
|
NM_001909.5(CTSD):c.127G>C (p.Val43Leu)
|
rs1252146408
|
0.00001
|
NM_001909.5(CTSD):c.135C>G (p.Asp45Glu)
|
rs573939509
|
0.00001
|
NM_001909.5(CTSD):c.190G>A (p.Glu64Lys)
|
rs539823013
|
0.00001
|
NM_001909.5(CTSD):c.199A>C (p.Ile67Leu)
|
rs1335299144
|
0.00001
|
NM_001909.5(CTSD):c.223A>G (p.Met75Val)
|
rs144192783
|
0.00001
|
NM_001909.5(CTSD):c.228C>T (p.Asp76=)
|
rs587780914
|
0.00001
|
NM_001909.5(CTSD):c.241G>A (p.Gly81Arg)
|
rs199551387
|
0.00001
|
NM_001909.5(CTSD):c.260C>T (p.Thr87Met)
|
rs770248571
|
0.00001
|
NM_001909.5(CTSD):c.289G>A (p.Asp97Asn)
|
rs754680487
|
0.00001
|
NM_001909.5(CTSD):c.301T>C (p.Ser101Pro)
|
rs1049074086
|
0.00001
|
NM_001909.5(CTSD):c.353-7G>A
|
rs1438596750
|
0.00001
|
NM_001909.5(CTSD):c.371A>G (p.Asn124Ser)
|
rs375052866
|
0.00001
|
NM_001909.5(CTSD):c.380A>T (p.Lys127Met)
|
rs1438409242
|
0.00001
|
NM_001909.5(CTSD):c.423C>G (p.His141Gln)
|
rs375323994
|
0.00001
|
NM_001909.5(CTSD):c.471G>A (p.Ser157=)
|
rs760318745
|
0.00001
|
NM_001909.5(CTSD):c.488C>T (p.Ala163Val)
|
rs772976217
|
0.00001
|
NM_001909.5(CTSD):c.491C>T (p.Ser164Leu)
|
rs1845824897
|
0.00001
|
NM_001909.5(CTSD):c.518A>G (p.Lys173Arg)
|
rs746140722
|
0.00001
|
NM_001909.5(CTSD):c.631G>A (p.Val211Met)
|
rs779469223
|
0.00001
|
NM_001909.5(CTSD):c.640G>A (p.Val214Ile)
|
rs756998360
|
0.00001
|
NM_001909.5(CTSD):c.716C>T (p.Ala239Val)
|
rs759564989
|
0.00001
|
NM_001909.5(CTSD):c.73C>T (p.Pro25Ser)
|
rs769626991
|
0.00001
|
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn)
|
rs763407972
|
0.00001
|
NM_001909.5(CTSD):c.769G>A (p.Gly257Ser)
|
rs746312808
|
0.00001
|
NM_001909.5(CTSD):c.796C>T (p.Arg266Cys)
|
rs373621431
|
0.00001
|
NM_001909.5(CTSD):c.829G>A (p.Val277Met)
|
rs372319807
|
0.00001
|
NM_001909.5(CTSD):c.898C>T (p.Leu300Phe)
|
rs1256954867
|
0.00001
|
NM_001909.5(CTSD):c.89C>T (p.Thr30Met)
|
rs747274524
|
0.00001
|
NM_001909.5(CTSD):c.946G>A (p.Gly316Arg)
|
rs764766572
|
0.00001
|
NM_001909.5(CTSD):c.956C>T (p.Pro319Leu)
|
rs373170074
|
0.00001
|
NM_001909.5(CTSD):c.972+6C>T
|
rs765320531
|
0.00001
|
NM_001909.5(CTSD):c.978G>A (p.Met326Ile)
|
rs370282882
|
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.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_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.17A>G (p.Asp6Gly)
|
rs759063887
|
0.00001
|
NM_006493.4(CLN5):c.247A>G (p.Ile83Val)
|
rs750283603
|
0.00001
|
NM_006493.4(CLN5):c.26A>G (p.Gln9Arg)
|
rs1230755416
|
0.00001
|
NM_006493.4(CLN5):c.296C>T (p.Ala99Val)
|
rs143759121
|
0.00001
|
NM_006493.4(CLN5):c.31G>T (p.Ala11Ser)
|
rs563306322
|
0.00001
|
NM_006493.4(CLN5):c.323A>C (p.Asp108Ala)
|
rs368672718
|
0.00001
|
NM_006493.4(CLN5):c.3G>A (p.Met1Ile)
|
rs1464891081
|
0.00001
|
NM_006493.4(CLN5):c.430T>C (p.Cys144Arg)
|
rs1593911055
|
0.00001
|
NM_006493.4(CLN5):c.467C>T (p.Pro156Leu)
|
rs780802058
|
0.00001
|
NM_006493.4(CLN5):c.490G>T (p.Ala164Ser)
|
rs748549252
|
0.00001
|
NM_006493.4(CLN5):c.505G>A (p.Gly169Arg)
|
rs1420822940
|
0.00001
|
NM_006493.4(CLN5):c.565+6T>C
|
rs758229107
|
0.00001
|
NM_006493.4(CLN5):c.61C>T (p.Arg21Trp)
|
rs376454715
|
0.00001
|
NM_006493.4(CLN5):c.637A>C (p.Asn213His)
|
rs140122775
|
0.00001
|
NM_006493.4(CLN5):c.639T>A (p.Asn213Lys)
|
rs1312706135
|
0.00001
|
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn)
|
rs28940280
|
0.00001
|
NM_006493.4(CLN5):c.692G>A (p.Cys231Tyr)
|
rs200419110
|
0.00001
|
NM_006493.4(CLN5):c.755T>C (p.Ile252Thr)
|
rs1439976492
|
0.00001
|
NM_006493.4(CLN5):c.764A>C (p.Asn255Thr)
|
rs929479143
|
0.00001
|
NM_006493.4(CLN5):c.773G>A (p.Arg258Lys)
|
rs376675270
|
0.00001
|
NM_006493.4(CLN5):c.784T>C (p.Tyr262His)
|
rs1262072010
|
0.00001
|
NM_006493.4(CLN5):c.904A>G (p.Lys302Glu)
|
rs1060502320
|
0.00001
|
NM_006493.4(CLN5):c.935T>C (p.Phe312Ser)
|
rs201767993
|
0.00001
|
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys)
|
rs148862100
|
0.00001
|
NM_017882.3(CLN6):c.133C>T (p.Leu45Phe)
|
rs964241858
|
0.00001
|
NM_017882.3(CLN6):c.199C>G (p.Leu67Val)
|
rs759935979
|
0.00001
|
NM_017882.3(CLN6):c.205T>C (p.Phe69Leu)
|
rs1418418672
|
0.00001
|
NM_017882.3(CLN6):c.221T>G (p.Phe74Cys)
|
rs199658226
|
0.00001
|
NM_017882.3(CLN6):c.255C>G (p.Phe85Leu)
|
rs545955828
|
0.00001
|
NM_017882.3(CLN6):c.285T>A (p.Phe95Leu)
|
rs796052350
|
0.00001
|
NM_017882.3(CLN6):c.296A>G (p.Lys99Arg)
|
rs146782642
|
0.00001
|
NM_017882.3(CLN6):c.301A>G (p.Ile101Val)
|
rs774238261
|
0.00001
|
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys)
|
rs796052352
|
0.00001
|
NM_017882.3(CLN6):c.311C>A (p.Ser104Tyr)
|
rs777921628
|
0.00001
|
NM_017882.3(CLN6):c.317G>A (p.Arg106His)
|
rs781133812
|
0.00001
|
NM_017882.3(CLN6):c.322C>G (p.Leu108Val)
|
rs796052353
|
0.00001
|
NM_017882.3(CLN6):c.331T>C (p.Ser111Pro)
|
rs1217014085
|
0.00001
|
NM_017882.3(CLN6):c.340T>C (p.Tyr114His)
|
rs1211135399
|
0.00001
|
NM_017882.3(CLN6):c.346A>G (p.Ser116Gly)
|
rs2093206402
|
0.00001
|
NM_017882.3(CLN6):c.355A>G (p.Ile119Val)
|
rs759241838
|
0.00001
|
NM_017882.3(CLN6):c.358T>A (p.Phe120Ile)
|
rs1433821186
|
0.00001
|
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys)
|
rs750081097
|
0.00001
|
NM_017882.3(CLN6):c.547A>G (p.Ile183Val)
|
rs766500060
|
0.00001
|
NM_017882.3(CLN6):c.581G>T (p.Ser194Ile)
|
rs777142645
|
0.00001
|
NM_017882.3(CLN6):c.593C>G (p.Thr198Ser)
|
rs777459938
|
0.00001
|
NM_017882.3(CLN6):c.599C>G (p.Ser200Cys)
|
rs796052357
|
0.00001
|
NM_017882.3(CLN6):c.61G>A (p.Gly21Ser)
|
rs916017530
|
0.00001
|
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys)
|
rs746753722
|
0.00001
|
NM_017882.3(CLN6):c.704T>A (p.Ile235Asn)
|
rs1469917052
|
0.00001
|
NM_017882.3(CLN6):c.718G>A (p.Ala240Thr)
|
rs779105796
|
0.00001
|
NM_017882.3(CLN6):c.748C>T (p.Arg250Cys)
|
rs950362413
|
0.00001
|
NM_017882.3(CLN6):c.757C>G (p.Leu253Val)
|
rs1274562752
|
0.00001
|
NM_017882.3(CLN6):c.794C>T (p.Ser265Phe)
|
rs771007065
|
0.00001
|
NM_017882.3(CLN6):c.850C>T (p.Pro284Ser)
|
rs369715206
|
0.00001
|
NM_017882.3(CLN6):c.886G>A (p.Val296Ile)
|
rs781449103
|
0.00001
|
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg)
|
rs750937323
|
0.00001
|
NM_018941.4(CLN8):c.106T>A (p.Leu36Met)
|
rs1554448978
|
0.00001
|
NM_018941.4(CLN8):c.109G>A (p.Gly37Ser)
|
rs770240445
|
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.305G>T (p.Trp102Leu)
|
rs796052365
|
0.00001
|
NM_018941.4(CLN8):c.323C>T (p.Thr108Met)
|
rs143701028
|
0.00001
|
NM_018941.4(CLN8):c.335G>T (p.Gly112Val)
|
rs1304439072
|
0.00001
|
NM_018941.4(CLN8):c.364C>T (p.His122Tyr)
|
rs746051539
|
0.00001
|
NM_018941.4(CLN8):c.406G>T (p.Val136Phe)
|
rs187297173
|
0.00001
|
NM_018941.4(CLN8):c.41T>C (p.Phe14Ser)
|
rs957551479
|
0.00001
|
NM_018941.4(CLN8):c.488C>T (p.Thr163Met)
|
rs781099399
|
0.00001
|
NM_018941.4(CLN8):c.614T>C (p.Met205Thr)
|
rs763967636
|
0.00001
|
NM_018941.4(CLN8):c.680A>T (p.Tyr227Phe)
|
rs368561820
|
0.00001
|
NM_018941.4(CLN8):c.716C>T (p.Ala239Val)
|
rs913988013
|
0.00001
|
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys)
|
rs587779411
|
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_022089.4(ATP13A2):c.1004C>T (p.Ala335Val)
|
rs756767909
|
0.00001
|
NM_022089.4(ATP13A2):c.1017G>C (p.Met339Ile)
|
rs1345269003
|
0.00001
|
NM_022089.4(ATP13A2):c.1102A>G (p.Thr368Ala)
|
rs1236275703
|
0.00001
|
NM_022089.4(ATP13A2):c.1109G>A (p.Arg370Gln)
|
rs369738172
|
0.00001
|
NM_022089.4(ATP13A2):c.1295T>C (p.Leu432Pro)
|
rs778964823
|
0.00001
|
NM_022089.4(ATP13A2):c.1384C>G (p.Leu462Val)
|
rs773341880
|
0.00001
|
NM_022089.4(ATP13A2):c.1405G>A (p.Val469Met)
|
rs1326057817
|
0.00001
|
NM_022089.4(ATP13A2):c.1460G>A (p.Arg487Gln)
|
rs560095049
|
0.00001
|
NM_022089.4(ATP13A2):c.1465C>T (p.Arg489Trp)
|
rs753825215
|
0.00001
|
NM_022089.4(ATP13A2):c.146G>T (p.Gly49Val)
|
rs372254666
|
0.00001
|
NM_022089.4(ATP13A2):c.1544C>T (p.Thr515Met)
|
rs984178348
|
0.00001
|
NM_022089.4(ATP13A2):c.1631G>A (p.Arg544His)
|
rs1050384310
|
0.00001
|
NM_022089.4(ATP13A2):c.1744G>A (p.Gly582Ser)
|
rs886045581
|
0.00001
|
NM_022089.4(ATP13A2):c.1750-3C>T
|
rs780246274
|
0.00001
|
NM_022089.4(ATP13A2):c.1787G>C (p.Gly596Ala)
|
rs975811918
|
0.00001
|
NM_022089.4(ATP13A2):c.1856C>T (p.Pro619Leu)
|
rs746563424
|
0.00001
|
NM_022089.4(ATP13A2):c.1864G>T (p.Val622Phe)
|
rs779367060
|
0.00001
|
NM_022089.4(ATP13A2):c.1870G>A (p.Val624Ile)
|
rs368423685
|
0.00001
|
NM_022089.4(ATP13A2):c.1876C>T (p.His626Tyr)
|
rs778267471
|
0.00001
|
NM_022089.4(ATP13A2):c.1897G>T (p.Ala633Ser)
|
rs766354139
|
0.00001
|
NM_022089.4(ATP13A2):c.1907G>A (p.Arg636His)
|
rs769622260
|
0.00001
|
NM_022089.4(ATP13A2):c.1951G>A (p.Ala651Thr)
|
rs778404620
|
0.00001
|
NM_022089.4(ATP13A2):c.1957G>A (p.Val653Ile)
|
rs761490954
|
0.00001
|
NM_022089.4(ATP13A2):c.2015A>G (p.Asp672Gly)
|
rs981910553
|
0.00001
|
NM_022089.4(ATP13A2):c.2158G>T (p.Gly720Trp)
|
rs865939676
|
0.00001
|
NM_022089.4(ATP13A2):c.226C>T (p.Arg76Trp)
|
rs751715295
|
0.00001
|
NM_022089.4(ATP13A2):c.2270C>T (p.Ala757Val)
|
rs1208175914
|
0.00001
|
NM_022089.4(ATP13A2):c.229C>T (p.Leu77Phe)
|
rs763004392
|
0.00001
|
NM_022089.4(ATP13A2):c.2332G>A (p.Ala778Thr)
|
rs748986186
|
0.00001
|
NM_022089.4(ATP13A2):c.2381T>C (p.Met794Thr)
|
rs151222153
|
0.00001
|
NM_022089.4(ATP13A2):c.2422C>G (p.Gln808Glu)
|
rs774997717
|
0.00001
|
NM_022089.4(ATP13A2):c.2456G>A (p.Arg819Gln)
|
rs781298587
|
0.00001
|
NM_022089.4(ATP13A2):c.2479G>A (p.Gly827Arg)
|
rs765064192
|
0.00001
|
NM_022089.4(ATP13A2):c.2525C>G (p.Pro842Arg)
|
rs917176878
|
0.00001
|
NM_022089.4(ATP13A2):c.2591G>T (p.Cys864Phe)
|
rs1281682323
|
0.00001
|
NM_022089.4(ATP13A2):c.2635G>A (p.Gly879Ser)
|
rs771014262
|
0.00001
|
NM_022089.4(ATP13A2):c.2859+5G>C
|
rs1164759435
|
0.00001
|
NM_022089.4(ATP13A2):c.2867C>T (p.Thr956Ile)
|
rs752784549
|
0.00001
|
NM_022089.4(ATP13A2):c.2905G>A (p.Val969Ile)
|
rs769445714
|
0.00001
|
NM_022089.4(ATP13A2):c.2939G>A (p.Arg980His)
|
rs150748722
|
0.00001
|
NM_022089.4(ATP13A2):c.2995G>A (p.Val999Met)
|
rs764162255
|
0.00001
|
NM_022089.4(ATP13A2):c.3145G>A (p.Val1049Met)
|
rs750963832
|
0.00001
|
NM_022089.4(ATP13A2):c.3164G>C (p.Ser1055Thr)
|
rs1046254851
|
0.00001
|
NM_022089.4(ATP13A2):c.3175C>T (p.Leu1059Phe)
|
rs764410859
|
0.00001
|
NM_022089.4(ATP13A2):c.334A>G (p.Ile112Val)
|
rs747340052
|
0.00001
|
NM_022089.4(ATP13A2):c.3356T>G (p.Leu1119Arg)
|
rs375453342
|
0.00001
|
NM_022089.4(ATP13A2):c.340G>A (p.Glu114Lys)
|
rs757224113
|
0.00001
|
NM_022089.4(ATP13A2):c.3434G>A (p.Cys1145Tyr)
|
rs756071133
|
0.00001
|
NM_022089.4(ATP13A2):c.3440G>A (p.Arg1147His)
|
rs971337693
|
0.00001
|
NM_022089.4(ATP13A2):c.3538A>T (p.Arg1180Trp)
|
rs774920921
|
0.00001
|
NM_022089.4(ATP13A2):c.385C>T (p.Arg129Trp)
|
rs1318096890
|
0.00001
|
NM_022089.4(ATP13A2):c.386G>A (p.Arg129Gln)
|
rs762570832
|
0.00001
|
NM_022089.4(ATP13A2):c.464T>G (p.Val155Gly)
|
rs1333931944
|
0.00001
|
NM_022089.4(ATP13A2):c.509G>T (p.Gly170Val)
|
rs1369312171
|
0.00001
|
NM_022089.4(ATP13A2):c.529G>A (p.Glu177Lys)
|
rs1323958366
|
0.00001
|
NM_022089.4(ATP13A2):c.59C>T (p.Thr20Met)
|
rs773699589
|
0.00001
|
NM_022089.4(ATP13A2):c.668T>C (p.Ile223Thr)
|
rs771489150
|
0.00001
|
NM_022089.4(ATP13A2):c.769T>C (p.Tyr257His)
|
rs370403918
|
0.00001
|
NM_022089.4(ATP13A2):c.816C>G (p.Cys272Trp)
|
rs755969305
|
0.00001
|
NM_025219.3(DNAJC5):c.108G>C (p.Arg36=)
|
rs774703054
|
0.00001
|
NM_025219.3(DNAJC5):c.122A>G (p.Lys41Arg)
|
rs528096976
|
0.00001
|
NM_025219.3(DNAJC5):c.160G>A (p.Ala54Thr)
|
rs202015608
|
0.00001
|
NM_025219.3(DNAJC5):c.161C>T (p.Ala54Val)
|
rs754887788
|
0.00001
|
NM_025219.3(DNAJC5):c.187G>A (p.Ala63Thr)
|
rs796052411
|
0.00001
|
NM_025219.3(DNAJC5):c.203C>T (p.Thr68Met)
|
rs1382120578
|
0.00001
|
NM_025219.3(DNAJC5):c.208G>A (p.Ala70Thr)
|
rs769269113
|
0.00001
|
NM_025219.3(DNAJC5):c.31A>G (p.Thr11Ala)
|
rs796052408
|
0.00001
|
NM_025219.3(DNAJC5):c.321+8C>T
|
rs773607766
|
0.00001
|
NM_025219.3(DNAJC5):c.370T>G (p.Cys124Gly)
|
rs373850027
|
0.00001
|
NM_025219.3(DNAJC5):c.55G>A (p.Val19Ile)
|
rs981499477
|
0.00001
|
NM_025219.3(DNAJC5):c.58C>T (p.Leu20Phe)
|
rs796052409
|
0.00001
|
NM_025219.3(DNAJC5):c.593A>G (p.Asn198Ser)
|
rs778299599
|
0.00001
|
NM_025219.3(DNAJC5):c.76G>A (p.Ala26Thr)
|
rs753722773
|
0.00001
|
NM_025219.3(DNAJC5):c.7G>C (p.Asp3His)
|
rs887921248
|
0.00001
|
NM_025219.3(DNAJC5):c.80C>T (p.Thr27Ile)
|
rs1198430134
|
0.00001
|
NC_000001.10:g.(?_17312716)_(17338233_?)dup
|
|
|
NC_000001.10:g.(?_17316166)_(17338233_?)dup
|
|
|
NC_000005.9:g.(?_73980960)_(75008762_?)dup
|
|
|
NC_000008.10:g.(?_1719201)_(1728753_?)dup
|
|
|
NC_000008.10:g.(?_1719221)_(1728733_?)dup
|
|
|
NC_000011.9:g.(?_1774733)_(1778806_?)del
|
|
|
NC_000011.9:g.(?_1774733)_(1778806_?)dup
|
|
|
NC_000011.9:g.(?_1774733)_(1785089_?)dup
|
|
|
NC_000011.9:g.(?_1774733)_(2019125_?)dup
|
|
|
NC_000011.9:g.(?_532616)_(2906985_?)dup
|
|
|
NC_000011.9:g.(?_5709028)_(6640651_?)dup
|
|
|
NC_000013.10:g.(?_77566087)_(77575104_?)dup
|
|
|
NC_000013.11:g.(?_76991932)_(77000989_?)dup
|
|
|
NC_000013.11:g.76991974G>C
|
rs1037355085
|
|
NC_000013.11:g.76991982T>C
|
rs755587208
|
|
NC_000013.11:g.76991986G>A
|
rs1465531119
|
|
NC_000013.11:g.76992025T>A
|
rs1182554801
|
|
NC_000013.11:g.76992027G>C
|
rs2154034205
|
|
NC_000013.11:g.76992036C>T
|
rs2154034208
|
|
NC_000013.11:g.76992041G>A
|
rs2154034210
|
|
NC_000013.11:g.76992063G>A
|
rs1351624850
|
|
NC_000013.11:g.76992066T>A
|
rs1223625391
|
|
NC_000013.11:g.76992066T>G
|
rs1223625391
|
|
NC_000013.11:g.76992067C>T
|
rs61504484
|
|
NC_000015.9:g.(?_66161924)_(69018313_?)dup
|
|
|
NC_000015.9:g.(?_68500478)_(68521922_?)dup
|
|
|
NC_000015.9:g.(?_72636418)_(73660611_?)dup
|
|
|
NC_000015.9:g.(?_72640007)_(72643595_?)dup
|
|
|
NC_000015.9:g.(?_72666113)_(72666961_?)del
|
|
|
NC_000016.10:g.(?_28475343)_(28477877_?)dup
|
|
|
NC_000016.9:g.(?_28486664)_(28489218_?)dup
|
|
|
NC_000016.9:g.(?_28486664)_(28503100_?)dup
|
|
|
NC_000016.9:g.(?_28488817)_(28489218_?)dup
|
|
|
NC_000016.9:g.(?_28488837)_(28489218_?)dup
|
|
|
NC_000016.9:g.(?_28488837)_(28495459_?)dup
|
|
|
NC_000016.9:g.(?_28499892)_(28503100_?)dup
|
|
|
NC_000016.9:g.(?_28499902)_(28503090_?)dup
|
|
|
NC_000017.11:g.(?_44027807)_(44352876_?)dup
|
|
|
NC_000020.10:g.(?_62542275)_(62559715_?)del
|
|
|
NC_000020.10:g.(?_62559679)_(62562941_?)dup
|
|
|
NC_000020.10:g.(?_62559688)_(62567384_?)dup
|
|
|
NC_000020.11:g.(?_63928326)_(63931588_?)del
|
|
|
NM_000391.4(TPP1):c.763G>C (p.Ala255Pro)
|
rs1356628460
|
|
NM_000520.6(HEXA):c.-7_1del (p.Met1fs)
|
rs759154405
|
|
NM_000520.6(HEXA):c.1009G>A (p.Asp337Asn)
|
|
|
NM_000520.6(HEXA):c.100G>A (p.Asp34Asn)
|
|
|
NM_000520.6(HEXA):c.1019G>A (p.Arg340Lys)
|
|
|
NM_000520.6(HEXA):c.1022A>G (p.Lys341Arg)
|
rs1417593132
|
|
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.1042T>G (p.Phe348Val)
|
|
|
NM_000520.6(HEXA):c.104A>C (p.Gln35Pro)
|
|
|
NM_000520.6(HEXA):c.1058C>T (p.Ser353Phe)
|
rs2140322145
|
|
NM_000520.6(HEXA):c.106C>T (p.Arg36Cys)
|
rs2089059184
|
|
NM_000520.6(HEXA):c.1073+10G>T
|
|
|
NM_000520.6(HEXA):c.1074G>C (p.Thr358=)
|
rs1330754060
|
|
NM_000520.6(HEXA):c.107G>C (p.Arg36Pro)
|
|
|
NM_000520.6(HEXA):c.1087G>A (p.Val363Ile)
|
rs557550173
|
|
NM_000520.6(HEXA):c.1087G>T (p.Val363Phe)
|
|
|
NM_000520.6(HEXA):c.1087_1088delinsTA (p.Val363Tyr)
|
rs2088636561
|
|
NM_000520.6(HEXA):c.1088T>A (p.Val363Asp)
|
|
|
NM_000520.6(HEXA):c.1091C>G (p.Ser364Cys)
|
|
|
NM_000520.6(HEXA):c.1091CTT[1] (p.Ser365del)
|
|
|
NM_000520.6(HEXA):c.1099G>A (p.Gly367Ser)
|
rs2140321869
|
|
NM_000520.6(HEXA):c.10_12dup (p.Ser4_Arg5insSer)
|
|
|
NM_000520.6(HEXA):c.1108T>A (p.Tyr370Asn)
|
|
|
NM_000520.6(HEXA):c.1109A>G (p.Tyr370Cys)
|
|
|
NM_000520.6(HEXA):c.110A>G (p.Tyr37Cys)
|
rs2140344677
|
|
NM_000520.6(HEXA):c.1114G>A (p.Val372Met)
|
rs759434633
|
|
NM_000520.6(HEXA):c.1114G>T (p.Val372Leu)
|
|
|
NM_000520.6(HEXA):c.1135A>G (p.Asn379Asp)
|
|
|
NM_000520.6(HEXA):c.1136A>G (p.Asn379Ser)
|
|
|
NM_000520.6(HEXA):c.1142T>A (p.Val381Glu)
|
|
|
NM_000520.6(HEXA):c.1145A>C (p.Lys382Thr)
|
rs960869164
|
|
NM_000520.6(HEXA):c.1147-3C>T
|
|
|
NM_000520.6(HEXA):c.1152G>C (p.Gln384His)
|
|
|
NM_000520.6(HEXA):c.1154C>T (p.Pro385Leu)
|
|
|
NM_000520.6(HEXA):c.1160C>T (p.Thr387Ile)
|
|
|
NM_000520.6(HEXA):c.1165A>G (p.Ile389Val)
|
|
|
NM_000520.6(HEXA):c.1166T>C (p.Ile389Thr)
|
|
|
NM_000520.6(HEXA):c.1168C>G (p.Gln390Glu)
|
rs988192535
|
|
NM_000520.6(HEXA):c.1189C>A (p.Pro397Thr)
|
|
|
NM_000520.6(HEXA):c.1189C>T (p.Pro397Ser)
|
rs778878211
|
|
NM_000520.6(HEXA):c.1196A>G (p.Asn399Ser)
|
|
|
NM_000520.6(HEXA):c.1196A>T (p.Asn399Ile)
|
rs755973971
|
|
NM_000520.6(HEXA):c.1198T>C (p.Tyr400His)
|
|
|
NM_000520.6(HEXA):c.1204_1206del (p.Lys402del)
|
rs1467732394
|
|
NM_000520.6(HEXA):c.1209G>T (p.Glu403Asp)
|
|
|
NM_000520.6(HEXA):c.121C>T (p.Pro41Ser)
|
|
|
NM_000520.6(HEXA):c.1226A>G (p.Lys409Arg)
|
|
|
NM_000520.6(HEXA):c.1238G>A (p.Arg413Gln)
|
|
|
NM_000520.6(HEXA):c.1238G>C (p.Arg413Pro)
|
rs766988109
|
|
NM_000520.6(HEXA):c.1250C>G (p.Ser417Cys)
|
|
|
NM_000520.6(HEXA):c.1252G>T (p.Ala418Ser)
|
|
|
NM_000520.6(HEXA):c.1253C>A (p.Ala418Asp)
|
|
|
NM_000520.6(HEXA):c.1253C>G (p.Ala418Gly)
|
|
|
NM_000520.6(HEXA):c.1270C>T (p.Arg424Cys)
|
|
|
NM_000520.6(HEXA):c.1273A>G (p.Ile425Val)
|
rs2088617363
|
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NM_000520.6(HEXA):c.1276T>G (p.Ser426Ala)
|
|
|
NM_000520.6(HEXA):c.1277C>T (p.Ser426Phe)
|
rs2140320645
|
|
NM_000520.6(HEXA):c.127A>G (p.Asn43Asp)
|
rs1567308297
|
|
NM_000520.6(HEXA):c.1283G>A (p.Gly428Asp)
|
rs2140320638
|
|
NM_000520.6(HEXA):c.1285C>T (p.Pro429Ser)
|
rs2140320635
|
|
NM_000520.6(HEXA):c.1288G>A (p.Asp430Asn)
|
|
|
NM_000520.6(HEXA):c.1306A>T (p.Ile436Leu)
|
rs1800431
|
|
NM_000520.6(HEXA):c.1315C>A (p.Pro439Thr)
|
rs2140320594
|
|
NM_000520.6(HEXA):c.1321G>A (p.Ala441Thr)
|
rs2140320582
|
|
NM_000520.6(HEXA):c.1322C>G (p.Ala441Gly)
|
rs2140320579
|
|
NM_000520.6(HEXA):c.1330+4A>T
|
|
|
NM_000520.6(HEXA):c.1331G>A (p.Gly444Asp)
|
|
|
NM_000520.6(HEXA):c.1336C>T (p.Pro446Ser)
|
|
|
NM_000520.6(HEXA):c.1337C>T (p.Pro446Leu)
|
|
|
NM_000520.6(HEXA):c.1339G>A (p.Glu447Lys)
|
|
|
NM_000520.6(HEXA):c.1346A>G (p.Lys449Arg)
|
|
|
NM_000520.6(HEXA):c.1367A>C (p.Glu456Ala)
|
rs1567295650
|
|
NM_000520.6(HEXA):c.1367A>G (p.Glu456Gly)
|
|
|
NM_000520.6(HEXA):c.1368G>C (p.Glu456Asp)
|
rs2140320322
|
|
NM_000520.6(HEXA):c.136T>C (p.Phe46Leu)
|
rs1287127671
|
|
NM_000520.6(HEXA):c.1377G>A (p.Met459Ile)
|
|
|
NM_000520.6(HEXA):c.1399A>G (p.Thr467Ala)
|
|
|
NM_000520.6(HEXA):c.13A>G (p.Arg5Gly)
|
|
|
NM_000520.6(HEXA):c.1400C>T (p.Thr467Ile)
|
rs746828145
|
|
NM_000520.6(HEXA):c.141G>C (p.Gln47His)
|
|
|
NM_000520.6(HEXA):c.1421+3A>T
|
|
|
NM_000520.6(HEXA):c.1421+6G>C
|
|
|
NM_000520.6(HEXA):c.1424C>G (p.Pro475Arg)
|
rs758829206
|
|
NM_000520.6(HEXA):c.1435G>C (p.Ala479Pro)
|
|
|
NM_000520.6(HEXA):c.1439T>C (p.Val480Ala)
|
|
|
NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg)
|
rs121907968
|
|
NM_000520.6(HEXA):c.1457G>A (p.Ser486Asn)
|
rs1408716264
|
|
NM_000520.6(HEXA):c.1467G>C (p.Leu489Phe)
|
|
|
NM_000520.6(HEXA):c.1469C>T (p.Thr490Ile)
|
|
|
NM_000520.6(HEXA):c.1474G>C (p.Asp492His)
|
|
|
NM_000520.6(HEXA):c.1481C>G (p.Thr494Arg)
|
rs2088600017
|
|
NM_000520.6(HEXA):c.1487C>G (p.Ala496Gly)
|
|
|
NM_000520.6(HEXA):c.1488C>G (p.Ala496=)
|
|
|
NM_000520.6(HEXA):c.148G>A (p.Val50Ile)
|
|
|
NM_000520.6(HEXA):c.1509C>G (p.Phe503Leu)
|
|
|
NM_000520.6(HEXA):c.152G>C (p.Ser51Thr)
|
rs2089058076
|
|
NM_000520.6(HEXA):c.1532G>T (p.Gly511Val)
|
|
|
NM_000520.6(HEXA):c.1556T>C (p.Val519Ala)
|
|
|
NM_000520.6(HEXA):c.1571A>C (p.Gln524Pro)
|
rs1432462387
|
|
NM_000520.6(HEXA):c.1574A>G (p.Glu525Gly)
|
|
|
NM_000520.6(HEXA):c.157G>A (p.Ala53Thr)
|
|
|
NM_000520.6(HEXA):c.157G>T (p.Ala53Ser)
|
rs2140344593
|
|
NM_000520.6(HEXA):c.167C>G (p.Pro56Arg)
|
|
|
NM_000520.6(HEXA):c.169G>C (p.Gly57Arg)
|
rs2089057551
|
|
NM_000520.6(HEXA):c.16C>A (p.Leu6Ile)
|
rs1167125379
|
|
NM_000520.6(HEXA):c.176C>T (p.Ser59Leu)
|
|
|
NM_000520.6(HEXA):c.178G>T (p.Val60Phe)
|
|
|
NM_000520.6(HEXA):c.179T>C (p.Val60Ala)
|
|
|
NM_000520.6(HEXA):c.17T>G (p.Leu6Arg)
|
|
|
NM_000520.6(HEXA):c.181C>T (p.Leu61Phe)
|
rs1595816175
|
|
NM_000520.6(HEXA):c.190G>A (p.Ala64Thr)
|
|
|
NM_000520.6(HEXA):c.200G>A (p.Arg67His)
|
|
|
NM_000520.6(HEXA):c.200G>T (p.Arg67Leu)
|
rs1213459678
|
|
NM_000520.6(HEXA):c.203A>G (p.Tyr68Cys)
|
|
|
NM_000520.6(HEXA):c.218_219insAAA (p.Phe73delinsLeuAsn)
|
rs1555475468
|
|
NM_000520.6(HEXA):c.227G>C (p.Gly76Ala)
|
rs2089055615
|
|
NM_000520.6(HEXA):c.229T>G (p.Ser77Ala)
|
|
|
NM_000520.6(HEXA):c.230C>T (p.Ser77Phe)
|
rs2089055459
|
|
NM_000520.6(HEXA):c.236C>G (p.Pro79Arg)
|
|
|
NM_000520.6(HEXA):c.238C>A (p.Arg80Ser)
|
rs1240272655
|
|
NM_000520.6(HEXA):c.248T>C (p.Leu83Pro)
|
rs1477850542
|
|
NM_000520.6(HEXA):c.253+4A>C
|
rs746118260
|
|
NM_000520.6(HEXA):c.253+5G>A
|
|
|
NM_000520.6(HEXA):c.253+5G>T
|
|
|
NM_000520.6(HEXA):c.254G>A (p.Gly85Glu)
|
|
|
NM_000520.6(HEXA):c.260G>T (p.Arg87Leu)
|
|
|
NM_000520.6(HEXA):c.277A>G (p.Asn93Asp)
|
rs2140329070
|
|
NM_000520.6(HEXA):c.285G>C (p.Leu95Phe)
|
|
|
NM_000520.6(HEXA):c.293C>G (p.Ser98Cys)
|
|
|
NM_000520.6(HEXA):c.298G>T (p.Val100Phe)
|
rs794727250
|
|
NM_000520.6(HEXA):c.304C>T (p.Pro102Ser)
|
rs1217876329
|
|
NM_000520.6(HEXA):c.307G>A (p.Gly103Arg)
|
|
|
NM_000520.6(HEXA):c.308G>A (p.Gly103Glu)
|
|
|
NM_000520.6(HEXA):c.331G>A (p.Glu111Lys)
|
rs2140328962
|
|
NM_000520.6(HEXA):c.332A>G (p.Glu111Gly)
|
rs2140328958
|
|
NM_000520.6(HEXA):c.346+5G>A
|
rs1414011185
|
|
NM_000520.6(HEXA):c.34C>G (p.Leu12Val)
|
|
|
NM_000520.6(HEXA):c.350C>A (p.Thr117Asn)
|
|
|
NM_000520.6(HEXA):c.358A>G (p.Ile120Val)
|
rs1567300305
|
|
NM_000520.6(HEXA):c.364G>C (p.Asp122His)
|
|
|
NM_000520.6(HEXA):c.367G>A (p.Asp123Asn)
|
|
|
NM_000520.6(HEXA):c.367G>T (p.Asp123Tyr)
|
rs768750119
|
|
NM_000520.6(HEXA):c.37G>A (p.Ala13Thr)
|
|
|
NM_000520.6(HEXA):c.386C>G (p.Ser129Cys)
|
|
|
NM_000520.6(HEXA):c.395T>G (p.Val132Gly)
|
|
|
NM_000520.6(HEXA):c.412+5C>A
|
rs2088765141
|
|
NM_000520.6(HEXA):c.417_418delinsTC (p.Glu140Gln)
|
|
|
NM_000520.6(HEXA):c.442A>G (p.Lys148Glu)
|
rs2140326779
|
|
NM_000520.6(HEXA):c.44C>T (p.Ala15Val)
|
|
|
NM_000520.6(HEXA):c.460-17A>G
|
|
|
NM_000520.6(HEXA):c.462C>A (p.Phe154Leu)
|
rs1272644968
|
|
NM_000520.6(HEXA):c.469A>G (p.Asn157Asp)
|
|
|
NM_000520.6(HEXA):c.472A>G (p.Lys158Glu)
|
|
|
NM_000520.6(HEXA):c.478G>A (p.Glu160Lys)
|
rs2088724627
|
|
NM_000520.6(HEXA):c.496C>T (p.Arg166Cys)
|
|
|
NM_000520.6(HEXA):c.49_50delinsTT (p.Ala17Leu)
|
|
|
NM_000520.6(HEXA):c.4A>G (p.Thr2Ala)
|
|
|
NM_000520.6(HEXA):c.505C>G (p.His169Asp)
|
|
|
NM_000520.6(HEXA):c.50C>T (p.Ala17Val)
|
|
|
NM_000520.6(HEXA):c.512G>A (p.Gly171Asp)
|
rs2088723709
|
|
NM_000520.6(HEXA):c.524A>G (p.Asp175Gly)
|
|
|
NM_000520.6(HEXA):c.542T>C (p.Leu181Pro)
|
rs2088722634
|
|
NM_000520.6(HEXA):c.545C>G (p.Pro182Arg)
|
|
|
NM_000520.6(HEXA):c.566C>G (p.Thr189Ser)
|
|
|
NM_000520.6(HEXA):c.568C>T (p.Leu190=)
|
|
|
NM_000520.6(HEXA):c.570+10C>T
|
|
|
NM_000520.6(HEXA):c.570+3A>C
|
|
|
NM_000520.6(HEXA):c.572A>G (p.Asp191Gly)
|
rs2140324755
|
|
NM_000520.6(HEXA):c.577A>G (p.Met193Val)
|
rs748427632
|
|
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr)
|
rs121907973
|
|
NM_000520.6(HEXA):c.598G>T (p.Val200Leu)
|
|
|
NM_000520.6(HEXA):c.59C>G (p.Ala20Gly)
|
|
|
NM_000520.6(HEXA):c.59C>T (p.Ala20Val)
|
rs749545037
|
|
NM_000520.6(HEXA):c.617T>C (p.Val206Ala)
|
rs2140324697
|
|
NM_000520.6(HEXA):c.629C>A (p.Ser210Tyr)
|
|
|
NM_000520.6(HEXA):c.62C>T (p.Thr21Met)
|
|
|
NM_000520.6(HEXA):c.642G>C (p.Glu214Asp)
|
|
|
NM_000520.6(HEXA):c.658G>C (p.Glu220Gln)
|
|
|
NM_000520.6(HEXA):c.65C>T (p.Ala22Val)
|
|
|
NM_000520.6(HEXA):c.664A>G (p.Met222Val)
|
rs768751360
|
|
NM_000520.6(HEXA):c.667A>G (p.Arg223Gly)
|
rs1595800426
|
|
NM_000520.6(HEXA):c.668G>A (p.Arg223Lys)
|
|
|
NM_000520.6(HEXA):c.672+3A>T
|
|
|
NM_000520.6(HEXA):c.672G>A (p.Lys224=)
|
|
|
NM_000520.6(HEXA):c.680A>G (p.Tyr227Cys)
|
|
|
NM_000520.6(HEXA):c.699C>G (p.Ile233Met)
|
rs2140324240
|
|
NM_000520.6(HEXA):c.701A>G (p.Tyr234Cys)
|
|
|
NM_000520.6(HEXA):c.70T>A (p.Trp24Arg)
|
rs2140344766
|
|
NM_000520.6(HEXA):c.72G>T (p.Trp24Cys)
|
rs1555475519
|
|
NM_000520.6(HEXA):c.736G>T (p.Ala246Ser)
|
rs758166013
|
|
NM_000520.6(HEXA):c.746G>A (p.Arg249Gln)
|
rs1297800753
|
|
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser)
|
rs1057521137
|
|
NM_000520.6(HEXA):c.757G>T (p.Val253Leu)
|
|
|
NM_000520.6(HEXA):c.764C>T (p.Ala255Val)
|
|
|
NM_000520.6(HEXA):c.775A>G (p.Thr259Ala)
|
rs745997044
|
|
NM_000520.6(HEXA):c.785A>G (p.His262Arg)
|
|
|
NM_000520.6(HEXA):c.787A>G (p.Thr263Ala)
|
|
|
NM_000520.6(HEXA):c.80C>T (p.Pro27Leu)
|
|
|
NM_000520.6(HEXA):c.818T>C (p.Leu273Ser)
|
rs2088664026
|
|
NM_000520.6(HEXA):c.823A>G (p.Thr275Ala)
|
|
|
NM_000520.6(HEXA):c.826C>G (p.Pro276Ala)
|
|
|
NM_000520.6(HEXA):c.833A>G (p.Tyr278Cys)
|
rs772036483
|
|
NM_000520.6(HEXA):c.848C>T (p.Pro283Leu)
|
|
|
NM_000520.6(HEXA):c.857C>T (p.Thr286Ile)
|
|
|
NM_000520.6(HEXA):c.859T>C (p.Phe287Leu)
|
|
|
NM_000520.6(HEXA):c.889A>G (p.Thr297Ala)
|
|
|
NM_000520.6(HEXA):c.88T>G (p.Phe30Val)
|
rs2140344740
|
|
NM_000520.6(HEXA):c.893A>G (p.Tyr298Cys)
|
rs1396944040
|
|
NM_000520.6(HEXA):c.896A>C (p.Glu299Ala)
|
|
|
NM_000520.6(HEXA):c.8G>T (p.Ser3Ile)
|
rs374524755
|
|
NM_000520.6(HEXA):c.907A>C (p.Thr303Pro)
|
rs759837903
|
|
NM_000520.6(HEXA):c.908C>T (p.Thr303Ile)
|
|
|
NM_000520.6(HEXA):c.913T>C (p.Phe305Leu)
|
|
|
NM_000520.6(HEXA):c.926G>A (p.Ser309Asn)
|
rs2088661242
|
|
NM_000520.6(HEXA):c.926G>C (p.Ser309Thr)
|
|
|
NM_000520.6(HEXA):c.929C>T (p.Ser310Phe)
|
|
|
NM_000520.6(HEXA):c.931_942del (p.Val311_Asp314del)
|
|
|
NM_000520.6(HEXA):c.947A>G (p.Tyr316Cys)
|
|
|
NM_000520.6(HEXA):c.986+6A>T
|
|
|
NM_000520.6(HEXA):c.98C>G (p.Ser33Cys)
|
rs1416996557
|
|
NM_000520.6(HEXA):c.994A>C (p.Asn332His)
|
|
|
NM_000520.6(HEXA):c.997C>G (p.Pro333Ala)
|
|
|
NM_000520.6(HEXA):c.99C>A (p.Ser33=)
|
rs2140344713
|
|
NM_000521.4(HEXB):c.1048C>G (p.His350Asp)
|
|
|
NM_000521.4(HEXB):c.1053G>C (p.Leu351Phe)
|
|
|
NM_000521.4(HEXB):c.1057G>C (p.Gly353Arg)
|
rs1749652995
|
|
NM_000521.4(HEXB):c.1066G>A (p.Val356Met)
|
|
|
NM_000521.4(HEXB):c.109G>T (p.Val37Leu)
|
|
|
NM_000521.4(HEXB):c.1104A>C (p.Gln368His)
|
|
|
NM_000521.4(HEXB):c.1133C>T (p.Thr378Ile)
|
|
|
NM_000521.4(HEXB):c.1169+5G>C
|
|
|
NM_000521.4(HEXB):c.118G>T (p.Ala40Ser)
|
|
|
NM_000521.4(HEXB):c.1242+3G>A
|
|
|
NM_000521.4(HEXB):c.1243-9C>A
|
|
|
NM_000521.4(HEXB):c.1252G>C (p.Gly418Arg)
|
|
|
NM_000521.4(HEXB):c.1253G>A (p.Gly418Asp)
|
|
|
NM_000521.4(HEXB):c.1265A>T (p.Glu422Val)
|
rs757550590
|
|
NM_000521.4(HEXB):c.1276G>A (p.Asp426Asn)
|
|
|
NM_000521.4(HEXB):c.1276G>C (p.Asp426His)
|
|
|
NM_000521.4(HEXB):c.130C>T (p.Arg44Trp)
|
|
|
NM_000521.4(HEXB):c.1365C>G (p.Ser455Arg)
|
rs2112180879
|
|
NM_000521.4(HEXB):c.136C>G (p.Pro46Ala)
|
rs1392645389
|
|
NM_000521.4(HEXB):c.1416C>T (p.Gly472=)
|
|
|
NM_000521.4(HEXB):c.1465T>C (p.Trp489Arg)
|
|
|
NM_000521.4(HEXB):c.1472A>G (p.Glu491Gly)
|
|
|
NM_000521.4(HEXB):c.1492C>T (p.Leu498Phe)
|
|
|
NM_000521.4(HEXB):c.1508+6G>C
|
|
|
NM_000521.4(HEXB):c.1573G>A (p.Ala525Thr)
|
|
|
NM_000521.4(HEXB):c.1603A>G (p.Arg535Gly)
|
|
|
NM_000521.4(HEXB):c.160C>T (p.Pro54Ser)
|
|
|
NM_000521.4(HEXB):c.1614-6_1628dup
|
rs2112188881
|
|
NM_000521.4(HEXB):c.1630C>A (p.Gln544Lys)
|
rs766477016
|
|
NM_000521.4(HEXB):c.1637T>C (p.Leu546Pro)
|
rs1749847397
|
|
NM_000521.4(HEXB):c.176T>C (p.Leu59Pro)
|
rs774155487
|
|
NM_000521.4(HEXB):c.20G>A (p.Gly7Glu)
|
|
|
NM_000521.4(HEXB):c.221C>G (p.Pro74Arg)
|
|
|
NM_000521.4(HEXB):c.230_232del (p.Phe77del)
|
rs1554034490
|
|
NM_000521.4(HEXB):c.236T>C (p.Ile79Thr)
|
|
|
NM_000521.4(HEXB):c.250A>C (p.Asn84His)
|
|
|
NM_000521.4(HEXB):c.269C>G (p.Ser90Cys)
|
|
|
NM_000521.4(HEXB):c.289G>A (p.Ala97Thr)
|
|
|
NM_000521.4(HEXB):c.300A>C (p.Arg100=)
|
rs1303786596
|
|
NM_000521.4(HEXB):c.302A>G (p.Tyr101Cys)
|
rs1748942839
|
|
NM_000521.4(HEXB):c.32C>T (p.Pro11Leu)
|
|
|
NM_000521.4(HEXB):c.333G>C (p.Trp111Cys)
|
|
|
NM_000521.4(HEXB):c.343_351del (p.Pro115_Glu117del)
|
rs760427424
|
|
NM_000521.4(HEXB):c.392T>G (p.Ile131Ser)
|
rs1748945643
|
|
NM_000521.4(HEXB):c.425A>G (p.Asn142Ser)
|
|
|
NM_000521.4(HEXB):c.444T>G (p.Ser148=)
|
|
|
NM_000521.4(HEXB):c.488A>G (p.Asn163Ser)
|
|
|
NM_000521.4(HEXB):c.500G>C (p.Gly167Ala)
|
rs951616685
|
|
NM_000521.4(HEXB):c.50T>A (p.Leu17Gln)
|
|
|
NM_000521.4(HEXB):c.539A>G (p.Tyr180Cys)
|
|
|
NM_000521.4(HEXB):c.542A>C (p.Gln181Pro)
|
rs1177358563
|
|
NM_000521.4(HEXB):c.563C>T (p.Thr188Ile)
|
rs1352027066
|
|
NM_000521.4(HEXB):c.565A>G (p.Ile189Val)
|
|
|
NM_000521.4(HEXB):c.592C>T (p.Pro198Ser)
|
|
|
NM_000521.4(HEXB):c.632G>C (p.Arg211Thr)
|
|
|
NM_000521.4(HEXB):c.646G>A (p.Val216Ile)
|
|
|
NM_000521.4(HEXB):c.680C>A (p.Ala227Asp)
|
|
|
NM_000521.4(HEXB):c.710A>G (p.His237Arg)
|
|
|
NM_000521.4(HEXB):c.770A>C (p.Lys257Thr)
|
|
|
NM_000521.4(HEXB):c.78G>A (p.Met26Ile)
|
rs886060750
|
|
NM_000521.4(HEXB):c.790C>T (p.His264Tyr)
|
|
|
NM_000521.4(HEXB):c.811G>A (p.Val271Ile)
|
|
|
NM_000521.4(HEXB):c.817A>G (p.Met273Val)
|
|
|
NM_000521.4(HEXB):c.824T>C (p.Ile275Thr)
|
|
|
NM_000521.4(HEXB):c.844G>C (p.Gly282Arg)
|
|
|
NM_000521.4(HEXB):c.867T>A (p.Phe289Leu)
|
|
|
NM_000521.4(HEXB):c.881A>G (p.His294Arg)
|
rs1749605069
|
|
NM_000521.4(HEXB):c.901G>C (p.Gly301Arg)
|
rs2112172036
|
|
NM_000521.4(HEXB):c.922C>G (p.Pro308Ala)
|
|
|
NM_000521.4(HEXB):c.96G>C (p.Gln32His)
|
|
|
NM_000521.4(HEXB):c.986C>T (p.Thr329Ile)
|
rs1561226697
|
|
NM_000784.4(CYP27A1):c.1010T>C (p.Val337Ala)
|
rs759622995
|
|
NM_000784.4(CYP27A1):c.1016C>A (p.Thr339Lys)
|
|
|
NM_000784.4(CYP27A1):c.1017+15_1017+18del
|
rs1679085939
|
|
NM_000784.4(CYP27A1):c.1017+5G>C
|
rs370304209
|
|
NM_000784.4(CYP27A1):c.1028C>G (p.Thr343Arg)
|
rs372194079
|
|
NM_000784.4(CYP27A1):c.1048C>T (p.His350Tyr)
|
|
|
NM_000784.4(CYP27A1):c.104T>C (p.Leu35Pro)
|
rs2106479125
|
|
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg)
|
rs1470602732
|
|
NM_000784.4(CYP27A1):c.1060G>A (p.Asp354Asn)
|
rs2105980881
|
|
NM_000784.4(CYP27A1):c.1075G>A (p.Glu359Lys)
|
rs760471205
|
|
NM_000784.4(CYP27A1):c.1076A>C (p.Glu359Ala)
|
|
|
NM_000784.4(CYP27A1):c.1078G>C (p.Ala360Pro)
|
rs1463950337
|
|
NM_000784.4(CYP27A1):c.1085A>G (p.His362Arg)
|
rs886043798
|
|
NM_000784.4(CYP27A1):c.1086C>A (p.His362Gln)
|
rs139426361
|
|
NM_000784.4(CYP27A1):c.1087G>A (p.Glu363Lys)
|
|
|
NM_000784.4(CYP27A1):c.1109C>T (p.Pro370Leu)
|
rs2105980922
|
|
NM_000784.4(CYP27A1):c.110C>G (p.Ser37Trp)
|
rs1559384559
|
|
NM_000784.4(CYP27A1):c.1112C>T (p.Ala371Val)
|
|
|
NM_000784.4(CYP27A1):c.1114G>T (p.Gly372Trp)
|
rs369969903
|
|
NM_000784.4(CYP27A1):c.1117C>A (p.Gln373Lys)
|
rs536176295
|
|
NM_000784.4(CYP27A1):c.1121T>A (p.Val374Glu)
|
rs1943755995
|
|
NM_000784.4(CYP27A1):c.1130A>G (p.His377Arg)
|
|
|
NM_000784.4(CYP27A1):c.1145A>C (p.His382Pro)
|
|
|
NM_000784.4(CYP27A1):c.1162G>T (p.Ala388Ser)
|
|
|
NM_000784.4(CYP27A1):c.1165G>A (p.Val389Met)
|
rs2105980957
|
|
NM_000784.4(CYP27A1):c.1174G>C (p.Glu392Gln)
|
|
|
NM_000784.4(CYP27A1):c.1184+3A>G
|
rs1943757633
|
|
NM_000784.4(CYP27A1):c.1196T>C (p.Val399Ala)
|
rs2105981055
|
|
NM_000784.4(CYP27A1):c.1196T>G (p.Val399Gly)
|
|
|
NM_000784.4(CYP27A1):c.1210T>C (p.Ser404Pro)
|
|
|
NM_000784.4(CYP27A1):c.1231A>T (p.Ile411Phe)
|
rs1943764288
|
|
NM_000784.4(CYP27A1):c.1232T>C (p.Ile411Thr)
|
|
|
NM_000784.4(CYP27A1):c.1238T>C (p.Val413Ala)
|
|
|
NM_000784.4(CYP27A1):c.1241A>G (p.Asp414Gly)
|
rs2105981100
|
|
NM_000784.4(CYP27A1):c.1244G>C (p.Gly415Ala)
|
rs755343859
|
|
NM_000784.4(CYP27A1):c.1247T>C (p.Phe416Ser)
|
|
|
NM_000784.4(CYP27A1):c.124G>A (p.Gly42Arg)
|
rs2106479143
|
|
NM_000784.4(CYP27A1):c.1263+5G>A
|
|
|
NM_000784.4(CYP27A1):c.1264-14A>G
|
rs1285698631
|
|
NM_000784.4(CYP27A1):c.1273G>C (p.Val425Leu)
|
|
|
NM_000784.4(CYP27A1):c.1273G>T (p.Val425Leu)
|
|
|
NM_000784.4(CYP27A1):c.1282C>T (p.His428Tyr)
|
rs749202662
|
|
NM_000784.4(CYP27A1):c.1286A>C (p.Tyr429Ser)
|
rs774127681
|
|
NM_000784.4(CYP27A1):c.1300G>C (p.Asp434His)
|
|
|
NM_000784.4(CYP27A1):c.1301A>C (p.Asp434Ala)
|
|
|
NM_000784.4(CYP27A1):c.130C>T (p.Pro44Ser)
|
rs923201483
|
|
NM_000784.4(CYP27A1):c.1312T>G (p.Phe438Val)
|
|
|
NM_000784.4(CYP27A1):c.1328G>T (p.Ser443Ile)
|
|
|
NM_000784.4(CYP27A1):c.1336C>G (p.Pro446Ala)
|
rs753166698
|
|
NM_000784.4(CYP27A1):c.1336C>T (p.Pro446Ser)
|
|
|
NM_000784.4(CYP27A1):c.1342C>A (p.Arg448Ser)
|
rs730882199
|
|
NM_000784.4(CYP27A1):c.1343G>T (p.Arg448Leu)
|
|
|
NM_000784.4(CYP27A1):c.1348C>G (p.Leu450Val)
|
rs1039198612
|
|
NM_000784.4(CYP27A1):c.1379T>G (p.Ile460Ser)
|
|
|
NM_000784.4(CYP27A1):c.1391T>G (p.Phe464Cys)
|
rs2105981257
|
|
NM_000784.4(CYP27A1):c.1394G>A (p.Gly465Asp)
|
rs777432192
|
|
NM_000784.4(CYP27A1):c.1394G>T (p.Gly465Val)
|
rs777432192
|
|
NM_000784.4(CYP27A1):c.1399G>C (p.Val467Leu)
|
rs2105981259
|
|
NM_000784.4(CYP27A1):c.1409G>T (p.Gly470Val)
|
|
|
NM_000784.4(CYP27A1):c.1412A>T (p.Tyr471Phe)
|
|
|
NM_000784.4(CYP27A1):c.1415G>A (p.Gly472Glu)
|
rs200883871
|
|
NM_000784.4(CYP27A1):c.1427G>A (p.Cys476Tyr)
|
rs1372707807
|
|
NM_000784.4(CYP27A1):c.1440G>C (p.Arg480Ser)
|
|
|
NM_000784.4(CYP27A1):c.1444G>T (p.Ala482Ser)
|
|
|
NM_000784.4(CYP27A1):c.1457T>C (p.Met486Thr)
|
rs2105981320
|
|
NM_000784.4(CYP27A1):c.1463T>C (p.Leu488Pro)
|
|
|
NM_000784.4(CYP27A1):c.1466T>A (p.Leu489His)
|
rs2105981325
|
|
NM_000784.4(CYP27A1):c.1472C>T (p.Ala491Val)
|
rs1024898619
|
|
NM_000784.4(CYP27A1):c.1477-3C>A
|
rs78938783
|
|
NM_000784.4(CYP27A1):c.1477-3C>G
|
rs78938783
|
|
NM_000784.4(CYP27A1):c.1477-3C>T
|
rs78938783
|
|
NM_000784.4(CYP27A1):c.1477-8C>G
|
|
|
NM_000784.4(CYP27A1):c.1477C>A (p.Leu493Met)
|
|
|
NM_000784.4(CYP27A1):c.14G>A (p.Gly5Asp)
|
rs1943396793
|
|
NM_000784.4(CYP27A1):c.1508C>T (p.Pro503Leu)
|
rs776752717
|
|
NM_000784.4(CYP27A1):c.1514C>A (p.Thr505Lys)
|
rs76822427
|
|
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met)
|
rs76822427
|
|
NM_000784.4(CYP27A1):c.1517G>A (p.Gly506Glu)
|
|
|
NM_000784.4(CYP27A1):c.1524G>C (p.Leu508Phe)
|
rs970661282
|
|
NM_000784.4(CYP27A1):c.152G>A (p.Arg51Gln)
|
|
|
NM_000784.4(CYP27A1):c.152G>C (p.Arg51Pro)
|
rs1333445399
|
|
NM_000784.4(CYP27A1):c.1534G>C (p.Ala512Pro)
|
|
|
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His)
|
rs144701596
|
|
NM_000784.4(CYP27A1):c.1538G>T (p.Arg513Leu)
|
rs144701596
|
|
NM_000784.4(CYP27A1):c.1538_1539delinsTT (p.Arg513Leu)
|
rs2105981476
|
|
NM_000784.4(CYP27A1):c.1540A>G (p.Ile514Val)
|
rs1178180058
|
|
NM_000784.4(CYP27A1):c.1547T>A (p.Leu516Gln)
|
|
|
NM_000784.4(CYP27A1):c.1550T>C (p.Val517Ala)
|
|
|
NM_000784.4(CYP27A1):c.1559A>C (p.Lys520Thr)
|
rs1943774432
|
|
NM_000784.4(CYP27A1):c.1559A>G (p.Lys520Arg)
|
|
|
NM_000784.4(CYP27A1):c.1563del (p.Val522fs)
|
|
|
NM_000784.4(CYP27A1):c.1568_*118del (p.Gly523_Ter532delinsXaa)
|
|
|
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter)
|
rs374507635
|
|
NM_000784.4(CYP27A1):c.157C>G (p.Arg53Gly)
|
rs757522001
|
|
NM_000784.4(CYP27A1):c.157C>T (p.Arg53Trp)
|
|
|
NM_000784.4(CYP27A1):c.1589A>G (p.Gln530Arg)
|
rs911127639
|
|
NM_000784.4(CYP27A1):c.1591T>G (p.Cys531Gly)
|
rs1943775075
|
|
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del)
|
rs766316288
|
|
NM_000784.4(CYP27A1):c.175G>A (p.Glu59Lys)
|
|
|
NM_000784.4(CYP27A1):c.181C>A (p.Pro61Thr)
|
|
|
NM_000784.4(CYP27A1):c.185G>A (p.Arg62His)
|
|
|
NM_000784.4(CYP27A1):c.185G>C (p.Arg62Pro)
|
|
|
NM_000784.4(CYP27A1):c.193C>G (p.Gln65Glu)
|
rs1553614310
|
|
NM_000784.4(CYP27A1):c.197T>C (p.Leu66Pro)
|
rs1191317525
|
|
NM_000784.4(CYP27A1):c.199C>T (p.Arg67Cys)
|
rs1943400890
|
|
NM_000784.4(CYP27A1):c.200G>A (p.Arg67His)
|
|
|
NM_000784.4(CYP27A1):c.201CTT[2] (p.Phe70del)
|
rs774193477
|
|
NM_000784.4(CYP27A1):c.205T>C (p.Phe69Leu)
|
rs2106479175
|
|
NM_000784.4(CYP27A1):c.219C>A (p.Phe73Leu)
|
|
|
NM_000784.4(CYP27A1):c.220G>C (p.Val74Leu)
|
|
|
NM_000784.4(CYP27A1):c.223C>A (p.Gln75Lys)
|
|
|
NM_000784.4(CYP27A1):c.223C>G (p.Gln75Glu)
|
|
|
NM_000784.4(CYP27A1):c.230A>G (p.Tyr77Cys)
|
|
|
NM_000784.4(CYP27A1):c.232G>C (p.Ala78Pro)
|
|
|
NM_000784.4(CYP27A1):c.233C>G (p.Ala78Gly)
|
rs867496731
|
|
NM_000784.4(CYP27A1):c.247C>G (p.Gln83Glu)
|
rs2106479200
|
|
NM_000784.4(CYP27A1):c.255G>A (p.Gln85=)
|
|
|
NM_000784.4(CYP27A1):c.256G>T (p.Val86Leu)
|
|
|
NM_000784.4(CYP27A1):c.259C>T (p.Leu87Phe)
|
rs1170171291
|
|
NM_000784.4(CYP27A1):c.26T>C (p.Leu9Pro)
|
|
|
NM_000784.4(CYP27A1):c.290T>G (p.Met97Arg)
|
|
|
NM_000784.4(CYP27A1):c.29G>A (p.Arg10Lys)
|
|
|
NM_000784.4(CYP27A1):c.315C>A (p.His105Gln)
|
rs753981913
|
|
NM_000784.4(CYP27A1):c.316G>A (p.Val106Met)
|
rs374769409
|
|
NM_000784.4(CYP27A1):c.332C>A (p.Ala111Asp)
|
|
|
NM_000784.4(CYP27A1):c.332C>G (p.Ala111Gly)
|
rs1441761338
|
|
NM_000784.4(CYP27A1):c.335C>G (p.Pro112Arg)
|
rs531504325
|
|
NM_000784.4(CYP27A1):c.338T>C (p.Leu113Pro)
|
|
|
NM_000784.4(CYP27A1):c.350T>C (p.Val117Ala)
|
|
|
NM_000784.4(CYP27A1):c.356G>A (p.Arg119Gln)
|
|
|
NM_000784.4(CYP27A1):c.371A>T (p.Tyr124Phe)
|
|
|
NM_000784.4(CYP27A1):c.375A>G (p.Pro125=)
|
|
|
NM_000784.4(CYP27A1):c.383A>G (p.Asn128Ser)
|
|
|
NM_000784.4(CYP27A1):c.385G>A (p.Asp129Asn)
|
|
|
NM_000784.4(CYP27A1):c.390G>A (p.Met130Ile)
|
|
|
NM_000784.4(CYP27A1):c.401A>C (p.Lys134Thr)
|
|
|
NM_000784.4(CYP27A1):c.412G>C (p.Asp138His)
|
|
|
NM_000784.4(CYP27A1):c.420C>A (p.His140Gln)
|
rs139415581
|
|
NM_000784.4(CYP27A1):c.421G>A (p.Asp141Asn)
|
|
|
NM_000784.4(CYP27A1):c.437C>T (p.Pro146Leu)
|
|
|
NM_000784.4(CYP27A1):c.447-3C>A
|
|
|
NM_000784.4(CYP27A1):c.455A>C (p.His152Pro)
|
rs768932304
|
|
NM_000784.4(CYP27A1):c.455A>T (p.His152Leu)
|
|
|
NM_000784.4(CYP27A1):c.470T>C (p.Leu157Pro)
|
rs1270373689
|
|
NM_000784.4(CYP27A1):c.473G>T (p.Arg158Leu)
|
|
|
NM_000784.4(CYP27A1):c.478G>A (p.Ala160Thr)
|
rs2105979908
|
|
NM_000784.4(CYP27A1):c.481C>G (p.Leu161Val)
|
rs759338714
|
|
NM_000784.4(CYP27A1):c.506C>G (p.Ala169Gly)
|
rs59443548
|
|
NM_000784.4(CYP27A1):c.517C>T (p.Leu173Phe)
|
|
|
NM_000784.4(CYP27A1):c.52C>T (p.Arg18Cys)
|
|
|
NM_000784.4(CYP27A1):c.530C>T (p.Ala177Val)
|
rs773103625
|
|
NM_000784.4(CYP27A1):c.538G>A (p.Glu180Lys)
|
rs1943725580
|
|
NM_000784.4(CYP27A1):c.550G>A (p.Asp184Asn)
|
|
|
NM_000784.4(CYP27A1):c.559A>G (p.Thr187Ala)
|
|
|
NM_000784.4(CYP27A1):c.563G>T (p.Arg188Leu)
|
|
|
NM_000784.4(CYP27A1):c.56G>C (p.Gly19Ala)
|
rs1203579586
|
|
NM_000784.4(CYP27A1):c.580G>A (p.Ala194Thr)
|
|
|
NM_000784.4(CYP27A1):c.590C>G (p.Ala197Gly)
|
|
|
NM_000784.4(CYP27A1):c.595G>A (p.Gly199Arg)
|
rs2105980019
|
|
NM_000784.4(CYP27A1):c.597G>T (p.Gly199=)
|
rs2105980020
|
|
NM_000784.4(CYP27A1):c.628T>C (p.Tyr210His)
|
|
|
NM_000784.4(CYP27A1):c.641T>C (p.Leu214Ser)
|
rs2105980045
|
|
NM_000784.4(CYP27A1):c.647-3C>A
|
rs1943729710
|
|
NM_000784.4(CYP27A1):c.649A>C (p.Ile217Leu)
|
rs886042256
|
|
NM_000784.4(CYP27A1):c.659T>A (p.Ile220Asn)
|
rs1559392536
|
|
NM_000784.4(CYP27A1):c.667G>C (p.Glu223Gln)
|
rs760323157
|
|
NM_000784.4(CYP27A1):c.674G>T (p.Arg225Leu)
|
|
|
NM_000784.4(CYP27A1):c.682T>C (p.Cys228Arg)
|
rs1553616268
|
|
NM_000784.4(CYP27A1):c.692G>A (p.Arg231Gln)
|
|
|
NM_000784.4(CYP27A1):c.700C>A (p.Pro234Thr)
|
rs2105980154
|
|
NM_000784.4(CYP27A1):c.701C>T (p.Pro234Leu)
|
rs1943733556
|
|
NM_000784.4(CYP27A1):c.706G>A (p.Asp236Asn)
|
rs144068826
|
|
NM_000784.4(CYP27A1):c.710C>T (p.Thr237Ile)
|
|
|
NM_000784.4(CYP27A1):c.721G>A (p.Val241Ile)
|
rs369660141
|
|
NM_000784.4(CYP27A1):c.721G>T (p.Val241Phe)
|
|
|
NM_000784.4(CYP27A1):c.746A>T (p.Gln249Leu)
|
|
|
NM_000784.4(CYP27A1):c.749A>G (p.Asn250Ser)
|
|
|
NM_000784.4(CYP27A1):c.751T>C (p.Ser251Pro)
|
|
|
NM_000784.4(CYP27A1):c.758A>G (p.Tyr253Cys)
|
|
|
NM_000784.4(CYP27A1):c.767T>G (p.Phe256Cys)
|
rs2105980216
|
|
NM_000784.4(CYP27A1):c.769C>T (p.Leu257Phe)
|
rs763461546
|
|
NM_000784.4(CYP27A1):c.785G>A (p.Arg262His)
|
rs757682669
|
|
NM_000784.4(CYP27A1):c.785G>T (p.Arg262Leu)
|
rs757682669
|
|
NM_000784.4(CYP27A1):c.794T>C (p.Leu265Pro)
|
|
|
NM_000784.4(CYP27A1):c.802T>C (p.Trp268Arg)
|
rs535323883
|
|
NM_000784.4(CYP27A1):c.821G>C (p.Gly274Ala)
|
rs1167915356
|
|
NM_000784.4(CYP27A1):c.828T>G (p.Asn276Lys)
|
rs774999308
|
|
NM_000784.4(CYP27A1):c.844+4A>G
|
rs1016174396
|
|
NM_000784.4(CYP27A1):c.844+5_844+6insATGTGGTGAGAGTCTGAGAGGACTTTCCTTTGGTGAGAGTCTGAGAG
|
|
|
NM_000784.4(CYP27A1):c.844+6G>A
|
rs1943737223
|
|
NM_000784.4(CYP27A1):c.851A>G (p.Lys284Arg)
|
|
|
NM_000784.4(CYP27A1):c.85G>A (p.Ala29Thr)
|
|
|
NM_000784.4(CYP27A1):c.862G>A (p.Glu288Lys)
|
rs2105980394
|
|
NM_000784.4(CYP27A1):c.868C>T (p.Leu290Phe)
|
rs2105980402
|
|
NM_000784.4(CYP27A1):c.869T>C (p.Leu290Pro)
|
|
|
NM_000784.4(CYP27A1):c.877A>T (p.Met293Leu)
|
rs1412455358
|
|
NM_000784.4(CYP27A1):c.884C>A (p.Ala295Asp)
|
|
|
NM_000784.4(CYP27A1):c.884C>T (p.Ala295Val)
|
rs1417655712
|
|
NM_000784.4(CYP27A1):c.905C>A (p.Pro302Gln)
|
|
|
NM_000784.4(CYP27A1):c.917A>G (p.Gln306Arg)
|
|
|
NM_000784.4(CYP27A1):c.923C>T (p.Ser308Phe)
|
rs2105980439
|
|
NM_000784.4(CYP27A1):c.932T>A (p.Leu311Gln)
|
|
|
NM_000784.4(CYP27A1):c.935A>C (p.His312Pro)
|
rs1275856308
|
|
NM_000784.4(CYP27A1):c.942A>T (p.Leu314Phe)
|
|
|
NM_000784.4(CYP27A1):c.970G>A (p.Glu324Lys)
|
rs2105980462
|
|
NM_000784.4(CYP27A1):c.976A>G (p.Met326Val)
|
|
|
NM_000784.4(CYP27A1):c.978G>A (p.Met326Ile)
|
|
|
NM_000784.4(CYP27A1):c.97G>A (p.Ala33Thr)
|
rs1275043449
|
|
NM_000784.4(CYP27A1):c.988C>T (p.Pro330Ser)
|
rs1399829248
|
|
NM_000784.4(CYP27A1):c.995T>G (p.Leu332Arg)
|
|
|
NM_000784.4(CYP27A1):c.9_10delinsAA (p.Leu4Met)
|
|
|
NM_001042432.2(CLN3):c.1003T>C (p.Ser335Pro)
|
rs1567257016
|
|
NM_001042432.2(CLN3):c.1019G>A (p.Cys340Tyr)
|
rs1174122334
|
|
NM_001042432.2(CLN3):c.101A>T (p.His34Leu)
|
|
|
NM_001042432.2(CLN3):c.1043T>C (p.Leu348Pro)
|
|
|
NM_001042432.2(CLN3):c.1046C>T (p.Ala349Val)
|
rs2141702560
|
|
NM_001042432.2(CLN3):c.1056+5C>A
|
|
|
NM_001042432.2(CLN3):c.1056+6A>G
|
rs2141702501
|
|
NM_001042432.2(CLN3):c.1057-5C>G
|
|
|
NM_001042432.2(CLN3):c.1057-9del
|
rs1288269632
|
|
NM_001042432.2(CLN3):c.1058G>A (p.Cys353Tyr)
|
|
|
NM_001042432.2(CLN3):c.1058G>T (p.Cys353Phe)
|
|
|
NM_001042432.2(CLN3):c.1069G>T (p.Val357Leu)
|
rs1567254103
|
|
NM_001042432.2(CLN3):c.1084G>A (p.Asp362Asn)
|
rs2046022965
|
|
NM_001042432.2(CLN3):c.1088T>G (p.Val363Gly)
|
|
|
NM_001042432.2(CLN3):c.1096G>A (p.Gly366Ser)
|
rs772209464
|
|
NM_001042432.2(CLN3):c.1097G>T (p.Gly366Val)
|
rs371214018
|
|
NM_001042432.2(CLN3):c.1099T>C (p.Phe367Leu)
|
|
|
NM_001042432.2(CLN3):c.1107A>C (p.Pro369=)
|
rs2141694275
|
|
NM_001042432.2(CLN3):c.1108A>G (p.Ser370Gly)
|
rs2141694271
|
|
NM_001042432.2(CLN3):c.1117C>T (p.Leu373Phe)
|
|
|
NM_001042432.2(CLN3):c.111C>G (p.Asn37Lys)
|
|
|
NM_001042432.2(CLN3):c.1121T>C (p.Val374Ala)
|
rs1596619733
|
|
NM_001042432.2(CLN3):c.1138T>C (p.Tyr380His)
|
|
|
NM_001042432.2(CLN3):c.1147C>T (p.Leu383Phe)
|
|
|
NM_001042432.2(CLN3):c.1160C>T (p.Ala387Val)
|
rs2141694140
|
|
NM_001042432.2(CLN3):c.1162G>A (p.Ala388Thr)
|
|
|
NM_001042432.2(CLN3):c.1166A>T (p.Tyr389Phe)
|
|
|
NM_001042432.2(CLN3):c.1178T>A (p.Phe393Tyr)
|
rs2141694088
|
|
NM_001042432.2(CLN3):c.1181A>G (p.His394Arg)
|
|
|
NM_001042432.2(CLN3):c.1183A>G (p.Asn395Asp)
|
rs2141694073
|
|
NM_001042432.2(CLN3):c.1184A>T (p.Asn395Ile)
|
rs2046020900
|
|
NM_001042432.2(CLN3):c.1189G>A (p.Ala397Thr)
|
|
|
NM_001042432.2(CLN3):c.1198-3C>T
|
rs2046017696
|
|
NM_001042432.2(CLN3):c.1204G>A (p.Asp402Asn)
|
|
|
NM_001042432.2(CLN3):c.1210C>T (p.His404Tyr)
|
rs146610181
|
|
NM_001042432.2(CLN3):c.1231G>T (p.Ala411Ser)
|
|
|
NM_001042432.2(CLN3):c.1265T>C (p.Leu422Pro)
|
rs2046014482
|
|
NM_001042432.2(CLN3):c.1267dup (p.Ser423fs)
|
|
|
NM_001042432.2(CLN3):c.1276C>G (p.Leu426Val)
|
rs1596619187
|
|
NM_001042432.2(CLN3):c.1285C>T (p.Pro429Ser)
|
rs1433950864
|
|
NM_001042432.2(CLN3):c.1291C>T (p.His431Tyr)
|
rs759510380
|
|
NM_001042432.2(CLN3):c.136C>G (p.Leu46Val)
|
|
|
NM_001042432.2(CLN3):c.143A>G (p.Asn48Ser)
|
|
|
NM_001042432.2(CLN3):c.143A>T (p.Asn48Ile)
|
|
|
NM_001042432.2(CLN3):c.145A>C (p.Asn49His)
|
|
|
NM_001042432.2(CLN3):c.147C>G (p.Asn49Lys)
|
rs571216643
|
|
NM_001042432.2(CLN3):c.159G>A (p.Val53=)
|
rs2046275556
|
|
NM_001042432.2(CLN3):c.170G>A (p.Ser57Asn)
|
|
|
NM_001042432.2(CLN3):c.191G>A (p.Ser64Asn)
|
rs2046274351
|
|
NM_001042432.2(CLN3):c.196A>C (p.Lys66Gln)
|
|
|
NM_001042432.2(CLN3):c.206C>G (p.Ser69Trp)
|
rs769840061
|
|
NM_001042432.2(CLN3):c.214_216del (p.Gln72del)
|
rs1473036975
|
|
NM_001042432.2(CLN3):c.218G>A (p.Ser73Asn)
|
|
|
NM_001042432.2(CLN3):c.222+5G>C
|
rs386833711
|
|
NM_001042432.2(CLN3):c.236C>T (p.Pro79Leu)
|
rs1596564333
|
|
NM_001042432.2(CLN3):c.238A>G (p.Thr80Ala)
|
rs150348015
|
|
NM_001042432.2(CLN3):c.23G>A (p.Arg8Gln)
|
|
|
NM_001042432.2(CLN3):c.248C>T (p.Pro83Leu)
|
|
|
NM_001042432.2(CLN3):c.251A>G (p.His84Arg)
|
rs2046262515
|
|
NM_001042432.2(CLN3):c.260C>T (p.Ser87Leu)
|
rs2141717001
|
|
NM_001042432.2(CLN3):c.266G>T (p.Arg89Leu)
|
rs766287694
|
|
NM_001042432.2(CLN3):c.270T>G (p.Phe90Leu)
|
rs145520962
|
|
NM_001042432.2(CLN3):c.276C>G (p.Cys92Trp)
|
|
|
NM_001042432.2(CLN3):c.278A>G (p.Asn93Ser)
|
rs140409296
|
|
NM_001042432.2(CLN3):c.283G>A (p.Val95Ile)
|
rs763659524
|
|
NM_001042432.2(CLN3):c.293C>A (p.Ala98Asp)
|
rs1361279384
|
|
NM_001042432.2(CLN3):c.293C>T (p.Ala98Val)
|
|
|
NM_001042432.2(CLN3):c.294+4C>T
|
|
|
NM_001042432.2(CLN3):c.294+8_294+10inv
|
|
|
NM_001042432.2(CLN3):c.29G>A (p.Arg10His)
|
|
|
NM_001042432.2(CLN3):c.304C>G (p.Leu102Val)
|
rs1167562278
|
|
NM_001042432.2(CLN3):c.307G>A (p.Ala103Thr)
|
|
|
NM_001042432.2(CLN3):c.313A>T (p.Ile105Phe)
|
|
|
NM_001042432.2(CLN3):c.320C>G (p.Pro107Arg)
|
|
|
NM_001042432.2(CLN3):c.320C>T (p.Pro107Leu)
|
rs1231056238
|
|
NM_001042432.2(CLN3):c.322A>G (p.Thr108Ala)
|
rs1302804526
|
|
NM_001042432.2(CLN3):c.323C>T (p.Thr108Ile)
|
|
|
NM_001042432.2(CLN3):c.326T>C (p.Leu109Pro)
|
|
|
NM_001042432.2(CLN3):c.358C>A (p.His120Asn)
|
rs145749864
|
|
NM_001042432.2(CLN3):c.358C>T (p.His120Tyr)
|
|
|
NM_001042432.2(CLN3):c.362T>G (p.Leu121Arg)
|
rs2046244488
|
|
NM_001042432.2(CLN3):c.367C>T (p.Pro123Ser)
|
rs1567261702
|
|
NM_001042432.2(CLN3):c.374G>A (p.Ser125Asn)
|
rs386833716
|
|
NM_001042432.2(CLN3):c.37G>T (p.Asp13Tyr)
|
|
|
NM_001042432.2(CLN3):c.386_387delinsCT (p.Leu129Pro)
|
|
|
NM_001042432.2(CLN3):c.388G>A (p.Val130Ile)
|
rs764261700
|
|
NM_001042432.2(CLN3):c.388G>T (p.Val130Phe)
|
rs764261700
|
|
NM_001042432.2(CLN3):c.391A>G (p.Ser131Gly)
|
rs2046239997
|
|
NM_001042432.2(CLN3):c.397A>T (p.Ile133Phe)
|
rs1295659689
|
|
NM_001042432.2(CLN3):c.400T>C (p.Cys134Arg)
|
rs386833719
|
|
NM_001042432.2(CLN3):c.403G>A (p.Ala135Thr)
|
rs1314360861
|
|
NM_001042432.2(CLN3):c.406G>T (p.Ala136Ser)
|
rs2046239467
|
|
NM_001042432.2(CLN3):c.419T>C (p.Val140Ala)
|
|
|
NM_001042432.2(CLN3):c.41C>T (p.Ser14Phe)
|
rs2141722690
|
|
NM_001042432.2(CLN3):c.421C>G (p.Leu141Val)
|
rs2141714404
|
|
NM_001042432.2(CLN3):c.422T>C (p.Leu141Pro)
|
rs2046239033
|
|
NM_001042432.2(CLN3):c.427G>A (p.Ala143Thr)
|
rs904694610
|
|
NM_001042432.2(CLN3):c.433T>C (p.Ser145Pro)
|
rs780814580
|
|
NM_001042432.2(CLN3):c.439T>G (p.Ser147Ala)
|
rs2141714357
|
|
NM_001042432.2(CLN3):c.43G>A (p.Glu15Lys)
|
|
|
NM_001042432.2(CLN3):c.443_445del (p.Val148del)
|
rs752130042
|
|
NM_001042432.2(CLN3):c.451A>T (p.Ser151Cys)
|
rs2141714276
|
|
NM_001042432.2(CLN3):c.458G>A (p.Cys153Tyr)
|
rs750813350
|
|
NM_001042432.2(CLN3):c.46+5G>A
|
|
|
NM_001042432.2(CLN3):c.461-3C>T
|
rs181995380
|
|
NM_001042432.2(CLN3):c.466G>C (p.Val156Leu)
|
|
|
NM_001042432.2(CLN3):c.472G>A (p.Ala158Thr)
|
rs386833723
|
|
NM_001042432.2(CLN3):c.482C>T (p.Ser161Leu)
|
rs386833724
|
|
NM_001042432.2(CLN3):c.490C>G (p.Leu164Val)
|
|
|
NM_001042432.2(CLN3):c.497A>G (p.Glu166Gly)
|
rs2141712916
|
|
NM_001042432.2(CLN3):c.505T>G (p.Phe169Val)
|
rs1392387565
|
|
NM_001042432.2(CLN3):c.512C>T (p.Ser171Phe)
|
rs1401497994
|
|
NM_001042432.2(CLN3):c.526T>C (p.Tyr176His)
|
rs1191755724
|
|
NM_001042432.2(CLN3):c.530C>T (p.Pro177Leu)
|
|
|
NM_001042432.2(CLN3):c.533+3_533+10del
|
rs2141712782
|
|
NM_001042432.2(CLN3):c.533+6C>T
|
rs2141712792
|
|
NM_001042432.2(CLN3):c.538G>C (p.Val180Leu)
|
rs202215629
|
|
NM_001042432.2(CLN3):c.53A>G (p.Glu18Gly)
|
rs2046314460
|
|
NM_001042432.2(CLN3):c.54G>T (p.Glu18Asp)
|
rs2141722130
|
|
NM_001042432.2(CLN3):c.554C>T (p.Ser185Phe)
|
rs2046221010
|
|
NM_001042432.2(CLN3):c.560G>A (p.Gly187Glu)
|
|
|
NM_001042432.2(CLN3):c.56C>T (p.Thr19Ile)
|
|
|
NM_001042432.2(CLN3):c.575G>A (p.Gly192Glu)
|
rs386833733
|
|
NM_001042432.2(CLN3):c.589C>G (p.Leu197Val)
|
rs753705869
|
|
NM_001042432.2(CLN3):c.608C>T (p.Thr203Ile)
|
|
|
NM_001042432.2(CLN3):c.611A>C (p.Gln204Pro)
|
rs2141712276
|
|
NM_001042432.2(CLN3):c.620T>C (p.Leu207Pro)
|
rs1411868641
|
|
NM_001042432.2(CLN3):c.62C>G (p.Pro21Arg)
|
|
|
NM_001042432.2(CLN3):c.62C>T (p.Pro21Leu)
|
rs562525993
|
|
NM_001042432.2(CLN3):c.644C>T (p.Ser215Phe)
|
|
|
NM_001042432.2(CLN3):c.646A>G (p.Met216Val)
|
rs2046218124
|
|
NM_001042432.2(CLN3):c.662C>T (p.Ala221Val)
|
|
|
NM_001042432.2(CLN3):c.671T>C (p.Leu224Pro)
|
rs2046217325
|
|
NM_001042432.2(CLN3):c.676A>G (p.Ser226Gly)
|
rs1555468695
|
|
NM_001042432.2(CLN3):c.677+5G>C
|
|
|
NM_001042432.2(CLN3):c.688T>A (p.Leu230Met)
|
rs746075287
|
|
NM_001042432.2(CLN3):c.689T>G (p.Leu230Trp)
|
rs2046161855
|
|
NM_001042432.2(CLN3):c.698C>A (p.Ser233Tyr)
|
rs2046161412
|
|
NM_001042432.2(CLN3):c.707C>T (p.Ala236Val)
|
rs754906598
|
|
NM_001042432.2(CLN3):c.726A>T (p.Glu242Asp)
|
rs2046160396
|
|
NM_001042432.2(CLN3):c.731A>C (p.Glu244Ala)
|
rs2046160099
|
|
NM_001042432.2(CLN3):c.734C>A (p.Ala245Glu)
|
rs2141706952
|
|
NM_001042432.2(CLN3):c.734_736del (p.Ala245del)
|
rs776966610
|
|
NM_001042432.2(CLN3):c.737A>T (p.Glu246Val)
|
rs2046159849
|
|
NM_001042432.2(CLN3):c.739A>C (p.Ser247Arg)
|
|
|
NM_001042432.2(CLN3):c.749G>C (p.Arg250Pro)
|
rs374217931
|
|
NM_001042432.2(CLN3):c.755C>T (p.Pro252Leu)
|
rs761065339
|
|
NM_001042432.2(CLN3):c.767C>T (p.Thr256Ile)
|
rs1064796298
|
|
NM_001042432.2(CLN3):c.771G>C (p.Glu257Asp)
|
rs73533466
|
|
NM_001042432.2(CLN3):c.772G>A (p.Ala258Thr)
|
|
|
NM_001042432.2(CLN3):c.775C>T (p.Pro259Ser)
|
|
|
NM_001042432.2(CLN3):c.776C>A (p.Pro259Gln)
|
rs137858807
|
|
NM_001042432.2(CLN3):c.784A>G (p.Lys262Glu)
|
|
|
NM_001042432.2(CLN3):c.790G>T (p.Gly264Cys)
|
rs2046156366
|
|
NM_001042432.2(CLN3):c.793T>G (p.Ser265Ala)
|
rs2141704251
|
|
NM_001042432.2(CLN3):c.794C>T (p.Ser265Phe)
|
|
|
NM_001042432.2(CLN3):c.7G>A (p.Gly3Ser)
|
rs1398814860
|
|
NM_001042432.2(CLN3):c.805C>T (p.Leu269Phe)
|
rs1308474116
|
|
NM_001042432.2(CLN3):c.80T>C (p.Leu27Pro)
|
|
|
NM_001042432.2(CLN3):c.832T>A (p.Phe278Ile)
|
rs1567257709
|
|
NM_001042432.2(CLN3):c.837+3del
|
rs759553835
|
|
NM_001042432.2(CLN3):c.837+4C>T
|
rs778372397
|
|
NM_001042432.2(CLN3):c.845_847dup (p.Leu282_Trp283insLeu)
|
|
|
NM_001042432.2(CLN3):c.853A>G (p.Ile285Val)
|
rs748844685
|
|
NM_001042432.2(CLN3):c.859C>A (p.Pro287Thr)
|
rs796052341
|
|
NM_001042432.2(CLN3):c.87C>A (p.Asp29Glu)
|
rs1131691496
|
|
NM_001042432.2(CLN3):c.884A>G (p.Glu295Gly)
|
rs2141703722
|
|
NM_001042432.2(CLN3):c.906+15C>G
|
|
|
NM_001042432.2(CLN3):c.907-3C>T
|
|
|
NM_001042432.2(CLN3):c.916C>T (p.Leu306Phe)
|
|
|
NM_001042432.2(CLN3):c.931A>G (p.Thr311Ala)
|
|
|
NM_001042432.2(CLN3):c.943C>G (p.His315Asp)
|
rs2141703350
|
|
NM_001042432.2(CLN3):c.946G>T (p.Ala316Ser)
|
rs780974004
|
|
NM_001042432.2(CLN3):c.947C>G (p.Ala316Gly)
|
rs2046112700
|
|
NM_001042432.2(CLN3):c.954A>T (p.Gln318His)
|
rs2141703284
|
|
NM_001042432.2(CLN3):c.956A>G (p.Tyr319Cys)
|
rs1322613715
|
|
NM_001042432.2(CLN3):c.962+2dup
|
|
|
NM_001042432.2(CLN3):c.962+4A>G
|
rs1596556713
|
|
NM_001042432.2(CLN3):c.995C>T (p.Ala332Val)
|
|
|
NM_001292004.2(HEXB):c.-376-4189C>T
|
|
|
NM_001909.5(CTSD):c.1009G>T (p.Ala337Ser)
|
rs147800688
|
|
NM_001909.5(CTSD):c.1012A>C (p.Ile338Leu)
|
|
|
NM_001909.5(CTSD):c.1034A>G (p.Lys345Arg)
|
rs1845759906
|
|
NM_001909.5(CTSD):c.1064C>T (p.Thr355Met)
|
|
|
NM_001909.5(CTSD):c.106A>G (p.Met36Val)
|
|
|
NM_001909.5(CTSD):c.1071+10C>T
|
rs2133657508
|
|
NM_001909.5(CTSD):c.1072-1G>A
|
|
|
NM_001909.5(CTSD):c.1080G>C (p.Gln360His)
|
rs2133657278
|
|
NM_001909.5(CTSD):c.1081G>T (p.Ala361Ser)
|
rs1845756287
|
|
NM_001909.5(CTSD):c.1105G>A (p.Gly369Ser)
|
rs1845755979
|
|
NM_001909.5(CTSD):c.110C>T (p.Ser37Leu)
|
|
|
NM_001909.5(CTSD):c.1111A>G (p.Met371Val)
|
|
|
NM_001909.5(CTSD):c.1119G>C (p.Met373Ile)
|
rs796052398
|
|
NM_001909.5(CTSD):c.1119G>T (p.Met373Ile)
|
|
|
NM_001909.5(CTSD):c.1129C>A (p.Pro377Thr)
|
|
|
NM_001909.5(CTSD):c.1136G>A (p.Ser379Asn)
|
rs1177483130
|
|
NM_001909.5(CTSD):c.1142del (p.Pro381fs)
|
|
|
NM_001909.5(CTSD):c.1146_1147del (p.Trp383fs)
|
rs2133657191
|
|
NM_001909.5(CTSD):c.1147_1148del (p.Trp383fs)
|
rs2133657189
|
|
NM_001909.5(CTSD):c.115G>A (p.Val39Ile)
|
|
|
NM_001909.5(CTSD):c.115G>C (p.Val39Leu)
|
|
|
NM_001909.5(CTSD):c.1171G>A (p.Gly391Ser)
|
|
|
NM_001909.5(CTSD):c.1174C>T (p.Arg392Cys)
|
|
|
NM_001909.5(CTSD):c.1175G>A (p.Arg392His)
|
rs374531851
|
|
NM_001909.5(CTSD):c.1175G>T (p.Arg392Leu)
|
rs374531851
|
|
NM_001909.5(CTSD):c.1196G>A (p.Arg399His)
|
rs797045138
|
|
NM_001909.5(CTSD):c.1199ACA[2] (p.Asn402del)
|
rs2133657126
|
|
NM_001909.5(CTSD):c.1204A>G (p.Asn402Asp)
|
|
|
NM_001909.5(CTSD):c.1210G>T (p.Val404Leu)
|
rs750489880
|
|
NM_001909.5(CTSD):c.1213G>A (p.Gly405Ser)
|
|
|
NM_001909.5(CTSD):c.1228G>C (p.Ala410Pro)
|
rs1316535195
|
|
NM_001909.5(CTSD):c.1229C>G (p.Ala410Gly)
|
rs1845753565
|
|
NM_001909.5(CTSD):c.1234C>T (p.Leu412Phe)
|
|
|
NM_001909.5(CTSD):c.1235T>G (p.Leu412Arg)
|
rs1554962202
|
|
NM_001909.5(CTSD):c.130G>A (p.Glu44Lys)
|
|
|
NM_001909.5(CTSD):c.132G>C (p.Glu44Asp)
|
|
|
NM_001909.5(CTSD):c.133G>A (p.Asp45Asn)
|
rs1845875103
|
|
NM_001909.5(CTSD):c.141T>G (p.Ile47Met)
|
rs545927559
|
|
NM_001909.5(CTSD):c.14G>T (p.Ser5Ile)
|
rs764386803
|
|
NM_001909.5(CTSD):c.152C>G (p.Pro51Arg)
|
rs2133666262
|
|
NM_001909.5(CTSD):c.161A>G (p.Lys54Arg)
|
rs1565023298
|
|
NM_001909.5(CTSD):c.166T>C (p.Ser56Pro)
|
|
|
NM_001909.5(CTSD):c.16C>T (p.Leu6Phe)
|
rs1590909993
|
|
NM_001909.5(CTSD):c.173C>A (p.Ala58Glu)
|
|
|
NM_001909.5(CTSD):c.182C>T (p.Ala61Val)
|
rs868621027
|
|
NM_001909.5(CTSD):c.184G>T (p.Val62Leu)
|
rs756892066
|
|
NM_001909.5(CTSD):c.190G>C (p.Glu64Gln)
|
rs539823013
|
|
NM_001909.5(CTSD):c.1A>G (p.Met1Val)
|
|
|
NM_001909.5(CTSD):c.203C>T (p.Pro68Leu)
|
rs11555044
|
|
NM_001909.5(CTSD):c.211C>T (p.Leu71Phe)
|
|
|
NM_001909.5(CTSD):c.22C>T (p.Pro8Ser)
|
rs1590909988
|
|
NM_001909.5(CTSD):c.253A>G (p.Ile85Val)
|
rs1565022412
|
|
NM_001909.5(CTSD):c.256G>A (p.Gly86Arg)
|
rs1845850566
|
|
NM_001909.5(CTSD):c.262C>G (p.Pro88Ala)
|
rs796052400
|
|
NM_001909.5(CTSD):c.262C>T (p.Pro88Ser)
|
|
|
NM_001909.5(CTSD):c.269A>G (p.Gln90Arg)
|
|
|
NM_001909.5(CTSD):c.271T>C (p.Cys91Arg)
|
rs1042278213
|
|
NM_001909.5(CTSD):c.28G>T (p.Ala10Ser)
|
rs1845913637
|
|
NM_001909.5(CTSD):c.293C>G (p.Thr98Arg)
|
rs748897941
|
|
NM_001909.5(CTSD):c.304A>C (p.Asn102His)
|
rs2133664207
|
|
NM_001909.5(CTSD):c.307C>G (p.Leu103Val)
|
rs750415207
|
|
NM_001909.5(CTSD):c.313G>A (p.Val105Ile)
|
rs897944478
|
|
NM_001909.5(CTSD):c.339G>A (p.Leu113=)
|
rs2133664177
|
|
NM_001909.5(CTSD):c.343A>G (p.Ile115Val)
|
|
|
NM_001909.5(CTSD):c.347C>T (p.Ala116Val)
|
|
|
NM_001909.5(CTSD):c.353-6G>A
|
rs1565022065
|
|
NM_001909.5(CTSD):c.355A>G (p.Ile119Val)
|
|
|
NM_001909.5(CTSD):c.358C>T (p.His120Tyr)
|
rs1381781298
|
|
NM_001909.5(CTSD):c.370A>G (p.Asn124Asp)
|
rs1590907227
|
|
NM_001909.5(CTSD):c.378C>A (p.Asp126Glu)
|
|
|
NM_001909.5(CTSD):c.394G>A (p.Val132Met)
|
rs770820791
|
|
NM_001909.5(CTSD):c.407C>T (p.Thr136Ile)
|
|
|
NM_001909.5(CTSD):c.409T>A (p.Ser137Thr)
|
rs1845842497
|
|
NM_001909.5(CTSD):c.431C>T (p.Ser144Leu)
|
rs754147413
|
|
NM_001909.5(CTSD):c.437G>T (p.Ser146Ile)
|
rs911813557
|
|
NM_001909.5(CTSD):c.445G>A (p.Gly149Arg)
|
rs762336399
|
|
NM_001909.5(CTSD):c.463A>T (p.Thr155Ser)
|
rs764778708
|
|
NM_001909.5(CTSD):c.464_465delinsGC (p.Thr155Ser)
|
rs1845841625
|
|
NM_001909.5(CTSD):c.465_466inv (p.Val156Met)
|
|
|
NM_001909.5(CTSD):c.471+6T>G
|
rs2133663481
|
|
NM_001909.5(CTSD):c.472G>A (p.Val158Met)
|
|
|
NM_001909.5(CTSD):c.478T>C (p.Cys160Arg)
|
rs1845825044
|
|
NM_001909.5(CTSD):c.493T>A (p.Ser165Thr)
|
|
|
NM_001909.5(CTSD):c.497C>T (p.Ala166Val)
|
rs796052396
|
|
NM_001909.5(CTSD):c.502G>T (p.Ala168Ser)
|
rs1554962647
|
|
NM_001909.5(CTSD):c.508G>A (p.Gly170Ser)
|
|
|
NM_001909.5(CTSD):c.509G>A (p.Gly170Asp)
|
rs1845824451
|
|
NM_001909.5(CTSD):c.52G>C (p.Ala18Pro)
|
rs796052403
|
|
NM_001909.5(CTSD):c.555G>T (p.Gln185His)
|
|
|
NM_001909.5(CTSD):c.566C>T (p.Thr189Ile)
|
rs1554962634
|
|
NM_001909.5(CTSD):c.571A>G (p.Ile191Val)
|
rs750166391
|
|
NM_001909.5(CTSD):c.574G>A (p.Ala192Thr)
|
rs767282477
|
|
NM_001909.5(CTSD):c.586G>A (p.Asp196Asn)
|
rs1388675826
|
|
NM_001909.5(CTSD):c.608A>T (p.Tyr203Phe)
|
rs1590906292
|
|
NM_001909.5(CTSD):c.613C>T (p.Arg205Cys)
|
rs769825646
|
|
NM_001909.5(CTSD):c.616A>G (p.Ile206Val)
|
rs2133661989
|
|
NM_001909.5(CTSD):c.646G>A (p.Asp216Asn)
|
rs1235872591
|
|
NM_001909.5(CTSD):c.64G>T (p.Val22Phe)
|
rs1060502503
|
|
NM_001909.5(CTSD):c.657G>T (p.Met219Ile)
|
|
|
NM_001909.5(CTSD):c.665A>G (p.Lys222Arg)
|
rs1845822086
|
|
NM_001909.5(CTSD):c.670G>A (p.Val224Met)
|
|
|
NM_001909.5(CTSD):c.671T>A (p.Val224Glu)
|
|
|
NM_001909.5(CTSD):c.68+5A>C
|
|
|
NM_001909.5(CTSD):c.683TCT[1] (p.Phe229del)
|
rs1057519591
|
|
NM_001909.5(CTSD):c.689_691del (p.Ser230del)
|
|
|
NM_001909.5(CTSD):c.69-12C>A
|
rs764025297
|
|
NM_001909.5(CTSD):c.692_694del (p.Phe231del)
|
rs1478615059
|
|
NM_001909.5(CTSD):c.704+6C>A
|
rs370847523
|
|
NM_001909.5(CTSD):c.70A>T (p.Ile24Phe)
|
rs1845876465
|
|
NM_001909.5(CTSD):c.725G>T (p.Gly242Val)
|
|
|
NM_001909.5(CTSD):c.72C>G (p.Ile24Met)
|
|
|
NM_001909.5(CTSD):c.767A>G (p.Lys256Arg)
|
|
|
NM_001909.5(CTSD):c.797G>A (p.Arg266His)
|
|
|
NM_001909.5(CTSD):c.799A>C (p.Lys267Gln)
|
rs749091423
|
|
NM_001909.5(CTSD):c.827+5G>A
|
|
|
NM_001909.5(CTSD):c.828-19_828-18delinsCT
|
|
|
NM_001909.5(CTSD):c.828-3C>A
|
|
|
NM_001909.5(CTSD):c.829G>T (p.Val277Leu)
|
|
|
NM_001909.5(CTSD):c.82A>G (p.Lys28Glu)
|
|
|
NM_001909.5(CTSD):c.832G>C (p.Glu278Gln)
|
rs1402574017
|
|
NM_001909.5(CTSD):c.833_835dup (p.Glu278_Val279insGlu)
|
|
|
NM_001909.5(CTSD):c.834G>C (p.Glu278Asp)
|
|
|
NM_001909.5(CTSD):c.845G>T (p.Gly282Val)
|
|
|
NM_001909.5(CTSD):c.851C>G (p.Thr284Ser)
|
|
|
NM_001909.5(CTSD):c.863A>G (p.Glu288Gly)
|
|
|
NM_001909.5(CTSD):c.887C>G (p.Thr296Arg)
|
|
|
NM_001909.5(CTSD):c.8C>A (p.Pro3His)
|
|
|
NM_001909.5(CTSD):c.8C>G (p.Pro3Arg)
|
|
|
NM_001909.5(CTSD):c.904G>T (p.Val302Leu)
|
rs749491748
|
|
NM_001909.5(CTSD):c.906G>A (p.Val302=)
|
|
|
NM_001909.5(CTSD):c.908_913del (p.Gly303_Pro304del)
|
|
|
NM_001909.5(CTSD):c.908_916del (p.Gly303_Val305del)
|
|
|
NM_001909.5(CTSD):c.918T>G (p.Asp306Glu)
|
|
|
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys)
|
rs373699222
|
|
NM_001909.5(CTSD):c.94A>G (p.Ile32Val)
|
|
|
NM_001909.5(CTSD):c.952G>A (p.Val318Met)
|
|
|
NM_001909.5(CTSD):c.968G>A (p.Gly323Asp)
|
rs761766384
|
|
NM_001909.5(CTSD):c.970G>A (p.Glu324Lys)
|
|
|
NM_001909.5(CTSD):c.972+4A>G
|
rs2133657784
|
|
NM_001909.5(CTSD):c.972+4_972+5dup
|
rs1386489811
|
|
NM_001909.5(CTSD):c.976A>G (p.Met326Val)
|
rs1425884068
|
|
NM_001909.5(CTSD):c.97C>T (p.Arg33Cys)
|
|
|
NM_001909.5(CTSD):c.982C>T (p.Pro328Ser)
|
rs796052397
|
|
NM_001909.5(CTSD):c.98G>A (p.Arg33His)
|
|
|
NM_001909.5(CTSD):c.993G>C (p.Lys331Asn)
|
rs1181418072
|
|
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.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.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.109C>G (p.Pro37Ala)
|
|
|
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.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_006493.2(CLN5):c.101C>A (p.Pro34Gln)
|
|
|
NM_006493.2(CLN5):c.104C>T (p.Ala35Val)
|
|
|
NM_006493.2(CLN5):c.107C>A (p.Ser36Ter)
|
|
|
NM_006493.2(CLN5):c.107C>T (p.Ser36Leu)
|
|
|
NM_006493.2(CLN5):c.10A>T (p.Asn4Tyr)
|
rs1336864663
|
|
NM_006493.2(CLN5):c.10_22delAACCTGCGCTTGG (p.Asn4Glyfs)
|
|
|
NM_006493.2(CLN5):c.116C>A (p.Ser39Ter)
|
rs61504484
|
|
NM_006493.2(CLN5):c.16C>A (p.Arg6Ser)
|
|
|
NM_006493.2(CLN5):c.17G>T (p.Arg6Leu)
|
rs1391354551
|
|
NM_006493.2(CLN5):c.20T>C (p.Leu7Ser)
|
|
|
NM_006493.2(CLN5):c.25C>A (p.Pro9Thr)
|
|
|
NM_006493.2(CLN5):c.31T>A (p.Ser11Thr)
|
|
|
NM_006493.2(CLN5):c.31T>G (p.Ser11Ala)
|
|
|
NM_006493.2(CLN5):c.32C>G (p.Ser11Cys)
|
|
|
NM_006493.2(CLN5):c.42C>G (p.Asp14Glu)
|
rs1259746826
|
|
NM_006493.2(CLN5):c.50G>A (p.Gly17Glu)
|
rs769990158
|
|
NM_006493.2(CLN5):c.52C>A (p.Gln18Lys)
|
rs773979248
|
|
NM_006493.2(CLN5):c.53A>G (p.Gln18Arg)
|
rs1287993760
|
|
NM_006493.2(CLN5):c.54A>C (p.Gln18His)
|
|
|
NM_006493.2(CLN5):c.64C>G (p.Arg22Gly)
|
|
|
NM_006493.2(CLN5):c.64C>T (p.Arg22Cys)
|
rs558597827
|
|
NM_006493.2(CLN5):c.82C>T (p.Pro28Ser)
|
|
|
NM_006493.3(CLN5):c.-126G>T (p.Gly8Trp)
|
rs762873839
|
|
NM_006493.4(CLN5):c.-11G>A
|
rs774598730
|
|
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.-94A>T
|
rs767480061
|
|
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.1009C>G (p.Pro337Ala)
|
|
|
NM_006493.4(CLN5):c.1021A>G (p.Ile341Val)
|
|
|
NM_006493.4(CLN5):c.1022T>C (p.Ile341Thr)
|
|
|
NM_006493.4(CLN5):c.1041_1042delinsCC (p.Pro347_Leu348=)
|
|
|
NM_006493.4(CLN5):c.1051A>G (p.Arg351Gly)
|
rs2154035217
|
|
NM_006493.4(CLN5):c.1057A>G (p.Lys353Glu)
|
|
|
NM_006493.4(CLN5):c.1067_1068del (p.Ser356fs)
|
rs796052345
|
|
NM_006493.4(CLN5):c.1074A>T (p.Leu358Phe)
|
rs1555274416
|
|
NM_006493.4(CLN5):c.107C>T (p.Ala36Val)
|
rs2154034272
|
|
NM_006493.4(CLN5):c.116C>T (p.Pro39Leu)
|
rs1285996011
|
|
NM_006493.4(CLN5):c.118G>C (p.Gly40Arg)
|
rs748399349
|
|
NM_006493.4(CLN5):c.11A>C (p.Glu4Ala)
|
|
|
NM_006493.4(CLN5):c.127C>T (p.Arg43Trp)
|
rs1213074445
|
|
NM_006493.4(CLN5):c.128G>A (p.Arg43Gln)
|
rs1282649970
|
|
NM_006493.4(CLN5):c.12G>C (p.Glu4Asp)
|
|
|
NM_006493.4(CLN5):c.134C>T (p.Ser45Leu)
|
|
|
NM_006493.4(CLN5):c.149G>A (p.Arg50Gln)
|
|
|
NM_006493.4(CLN5):c.170A>G (p.Tyr57Cys)
|
|
|
NM_006493.4(CLN5):c.172A>G (p.Lys58Glu)
|
|
|
NM_006493.4(CLN5):c.173+5G>A
|
rs2034192763
|
|
NM_006493.4(CLN5):c.175C>A (p.Arg59Ser)
|
rs765773686
|
|
NM_006493.4(CLN5):c.175C>T (p.Arg59Cys)
|
rs765773686
|
|
NM_006493.4(CLN5):c.176G>T (p.Arg59Leu)
|
rs753197537
|
|
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro)
|
rs104894386
|
|
NM_006493.4(CLN5):c.188G>T (p.Arg63Leu)
|
|
|
NM_006493.4(CLN5):c.19A>T (p.Thr7Ser)
|
rs541501705
|
|
NM_006493.4(CLN5):c.203C>T (p.Pro68Leu)
|
rs2154034626
|
|
NM_006493.4(CLN5):c.215C>G (p.Ala72Gly)
|
|
|
NM_006493.4(CLN5):c.215C>T (p.Ala72Val)
|
rs2154034628
|
|
NM_006493.4(CLN5):c.224C>T (p.Thr75Ile)
|
rs376336781
|
|
NM_006493.4(CLN5):c.229T>A (p.Cys77Ser)
|
rs2034242824
|
|
NM_006493.4(CLN5):c.236C>T (p.Thr79Ile)
|
|
|
NM_006493.4(CLN5):c.244C>T (p.Pro82Ser)
|
|
|
NM_006493.4(CLN5):c.248T>C (p.Ile83Thr)
|
|
|
NM_006493.4(CLN5):c.248T>G (p.Ile83Ser)
|
rs2034243356
|
|
NM_006493.4(CLN5):c.270T>A (p.Asp90Glu)
|
rs898862493
|
|
NM_006493.4(CLN5):c.279A>T (p.Glu93Asp)
|
rs2154034642
|
|
NM_006493.4(CLN5):c.287G>A (p.Arg96Gln)
|
rs201068201
|
|
NM_006493.4(CLN5):c.287G>T (p.Arg96Leu)
|
|
|
NM_006493.4(CLN5):c.291A>C (p.Leu97Phe)
|
rs2154034643
|
|
NM_006493.4(CLN5):c.335A>T (p.His112Leu)
|
|
|
NM_006493.4(CLN5):c.336C>G (p.His112Gln)
|
rs2034245418
|
|
NM_006493.4(CLN5):c.339G>C (p.Leu113Phe)
|
rs147214555
|
|
NM_006493.4(CLN5):c.347T>C (p.Met116Thr)
|
rs2154034705
|
|
NM_006493.4(CLN5):c.358A>G (p.Ile120Val)
|
rs1231886495
|
|
NM_006493.4(CLN5):c.359T>C (p.Ile120Thr)
|
|
|
NM_006493.4(CLN5):c.37A>G (p.Met13Val)
|
|
|
NM_006493.4(CLN5):c.38T>C (p.Met13Thr)
|
rs1007145426
|
|
NM_006493.4(CLN5):c.391T>C (p.Tyr131His)
|
|
|
NM_006493.4(CLN5):c.395C>T (p.Thr132Ile)
|
rs1305273453
|
|
NM_006493.4(CLN5):c.398T>G (p.Met133Arg)
|
rs1419308949
|
|
NM_006493.4(CLN5):c.422T>C (p.Leu141Pro)
|
|
|
NM_006493.4(CLN5):c.43C>T (p.Arg15Trp)
|
rs772949539
|
|
NM_006493.4(CLN5):c.442C>T (p.His148Tyr)
|
rs752563013
|
|
NM_006493.4(CLN5):c.446T>C (p.Leu149Pro)
|
rs386833976
|
|
NM_006493.4(CLN5):c.449G>A (p.Arg150Gln)
|
rs1014000261
|
|
NM_006493.4(CLN5):c.451C>T (p.Pro151Ser)
|
rs777080820
|
|
NM_006493.4(CLN5):c.460G>C (p.Asp154His)
|
|
|
NM_006493.4(CLN5):c.464C>T (p.Ala155Val)
|
rs2154034734
|
|
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser)
|
rs386833977
|
|
NM_006493.4(CLN5):c.46G>A (p.Gly16Ser)
|
|
|
NM_006493.4(CLN5):c.47GCGCGG[3] (p.16GA[3])
|
rs1409904698
|
|
NM_006493.4(CLN5):c.48C>T (p.Gly16=)
|
rs1448304779
|
|
NM_006493.4(CLN5):c.500T>C (p.Phe167Ser)
|
rs1393893027
|
|
NM_006493.4(CLN5):c.515A>G (p.Asp172Gly)
|
|
|
NM_006493.4(CLN5):c.535G>T (p.Gly179Trp)
|
rs2034263363
|
|
NM_006493.4(CLN5):c.544G>A (p.Val182Ile)
|
rs1064795474
|
|
NM_006493.4(CLN5):c.550G>A (p.Val184Ile)
|
rs1566219289
|
|
NM_006493.4(CLN5):c.563C>T (p.Ser188Leu)
|
|
|
NM_006493.4(CLN5):c.573G>A (p.Met191Ile)
|
rs2034339154
|
|
NM_006493.4(CLN5):c.574T>G (p.Phe192Val)
|
rs1555274325
|
|
NM_006493.4(CLN5):c.587C>T (p.Ala196Val)
|
rs2034339472
|
|
NM_006493.4(CLN5):c.59C>T (p.Ala20Val)
|
|
|
NM_006493.4(CLN5):c.62G>A (p.Arg21Gln)
|
rs2034188293
|
|
NM_006493.4(CLN5):c.65G>A (p.Gly22Glu)
|
rs2034188434
|
|
NM_006493.4(CLN5):c.661G>C (p.Gly221Arg)
|
rs755669847
|
|
NM_006493.4(CLN5):c.675G>C (p.Trp225Cys)
|
rs1555274338
|
|
NM_006493.4(CLN5):c.702T>G (p.Phe234Leu)
|
rs1593914834
|
|
NM_006493.4(CLN5):c.704T>C (p.Val235Ala)
|
rs535755345
|
|
NM_006493.4(CLN5):c.739G>A (p.Ala247Thr)
|
|
|
NM_006493.4(CLN5):c.745T>G (p.Phe249Val)
|
|
|
NM_006493.4(CLN5):c.751A>G (p.Asn251Asp)
|
|
|
NM_006493.4(CLN5):c.756A>G (p.Ile252Met)
|
|
|
NM_006493.4(CLN5):c.757G>C (p.Glu253Gln)
|
rs1232560552
|
|
NM_006493.4(CLN5):c.773G>T (p.Arg258Ile)
|
rs376675270
|
|
NM_006493.4(CLN5):c.77G>C (p.Trp26Ser)
|
rs764790770
|
|
NM_006493.4(CLN5):c.788G>A (p.Ser263Asn)
|
rs730882146
|
|
NM_006493.4(CLN5):c.818C>T (p.Thr273Ile)
|
|
|
NM_006493.4(CLN5):c.866A>G (p.Lys289Arg)
|
|
|
NM_006493.4(CLN5):c.875A>T (p.Tyr292Phe)
|
|
|
NM_006493.4(CLN5):c.885C>G (p.Phe295Leu)
|
rs772050001
|
|
NM_006493.4(CLN5):c.889C>A (p.Pro297Thr)
|
|
|
NM_006493.4(CLN5):c.902C>A (p.Thr301Asn)
|
rs1298505272
|
|
NM_006493.4(CLN5):c.928C>G (p.Gln310Glu)
|
|
|
NM_006493.4(CLN5):c.92C>A (p.Ala31Glu)
|
rs766858440
|
|
NM_006493.4(CLN5):c.92C>T (p.Ala31Val)
|
|
|
NM_006493.4(CLN5):c.936T>G (p.Phe312Leu)
|
rs2154035192
|
|
NM_006493.4(CLN5):c.947T>G (p.Ile316Ser)
|
|
|
NM_006493.4(CLN5):c.955A>G (p.Lys319Glu)
|
rs202171514
|
|
NM_006493.4(CLN5):c.958C>G (p.Gln320Glu)
|
|
|
NM_006493.4(CLN5):c.959A>G (p.Gln320Arg)
|
|
|
NM_006493.4(CLN5):c.98T>A (p.Leu33His)
|
|
|
NM_006493.4(CLN5):c.990G>T (p.Trp330Cys)
|
rs386833968
|
|
NM_017882.3(CLN6):c.108G>T (p.Glu36Asp)
|
rs1226528243
|
|
NM_017882.3(CLN6):c.112G>T (p.Ala38Ser)
|
|
|
NM_017882.3(CLN6):c.115C>G (p.Arg39Gly)
|
rs142260866
|
|
NM_017882.3(CLN6):c.115C>T (p.Arg39Cys)
|
rs142260866
|
|
NM_017882.3(CLN6):c.116G>A (p.Arg39His)
|
rs779456928
|
|
NM_017882.3(CLN6):c.119C>A (p.Thr40Lys)
|
rs769199442
|
|
NM_017882.3(CLN6):c.119C>T (p.Thr40Met)
|
rs769199442
|
|
NM_017882.3(CLN6):c.124C>G (p.Pro42Ala)
|
rs1003606439
|
|
NM_017882.3(CLN6):c.146T>A (p.Phe49Tyr)
|
|
|
NM_017882.3(CLN6):c.14G>A (p.Arg5Gln)
|
rs2093262797
|
|
NM_017882.3(CLN6):c.161A>G (p.Gln54Arg)
|
rs2093226926
|
|
NM_017882.3(CLN6):c.163A>T (p.Asn55Tyr)
|
|
|
NM_017882.3(CLN6):c.185G>A (p.Arg62His)
|
rs751486476
|
|
NM_017882.3(CLN6):c.190A>G (p.Ile64Val)
|
|
|
NM_017882.3(CLN6):c.196A>G (p.Met66Val)
|
rs1430705796
|
|
NM_017882.3(CLN6):c.198+3G>C
|
|
|
NM_017882.3(CLN6):c.198+5G>A
|
|
|
NM_017882.3(CLN6):c.199-12T>G
|
|
|
NM_017882.3(CLN6):c.202G>C (p.Val68Leu)
|
|
|
NM_017882.3(CLN6):c.212T>G (p.Leu71Arg)
|
rs1450871754
|
|
NM_017882.3(CLN6):c.214G>A (p.Glu72Lys)
|
rs104894483
|
|
NM_017882.3(CLN6):c.224C>T (p.Pro75Leu)
|
rs1595819607
|
|
NM_017882.3(CLN6):c.230A>C (p.Asn77Thr)
|
rs776974644
|
|
NM_017882.3(CLN6):c.268A>G (p.Asn90Asp)
|
rs2093214490
|
|
NM_017882.3(CLN6):c.269A>T (p.Asn90Ile)
|
rs2141141464
|
|
NM_017882.3(CLN6):c.270C>A (p.Asn90Lys)
|
|
|
NM_017882.3(CLN6):c.276C>G (p.Ile92Met)
|
|
|
NM_017882.3(CLN6):c.284T>C (p.Phe95Ser)
|
|
|
NM_017882.3(CLN6):c.28C>G (p.Leu10Val)
|
rs1457277891
|
|
NM_017882.3(CLN6):c.297+4C>T
|
rs1030759897
|
|
NM_017882.3(CLN6):c.297G>C (p.Lys99Asn)
|
|
|
NM_017882.3(CLN6):c.299T>G (p.Leu100Arg)
|
rs1555438702
|
|
NM_017882.3(CLN6):c.311C>T (p.Ser104Phe)
|
rs777921628
|
|
NM_017882.3(CLN6):c.314C>T (p.Pro105Leu)
|
rs769747737
|
|
NM_017882.3(CLN6):c.316C>G (p.Arg106Gly)
|
|
|
NM_017882.3(CLN6):c.329G>T (p.Arg110Leu)
|
rs140179213
|
|
NM_017882.3(CLN6):c.32G>C (p.Gly11Ala)
|
rs2093262694
|
|
NM_017882.3(CLN6):c.360C>A (p.Phe120Leu)
|
rs1362402324
|
|
NM_017882.3(CLN6):c.363C>G (p.Ile121Met)
|
rs148547876
|
|
NM_017882.3(CLN6):c.364A>G (p.Met122Val)
|
|
|
NM_017882.3(CLN6):c.365T>C (p.Met122Thr)
|
rs2093206265
|
|
NM_017882.3(CLN6):c.366G>C (p.Met122Ile)
|
|
|
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp)
|
rs104894484
|
|
NM_017882.3(CLN6):c.371C>T (p.Ala124Val)
|
rs1567095879
|
|
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly)
|
rs772893554
|
|
NM_017882.3(CLN6):c.377T>C (p.Ile126Thr)
|
rs2141139324
|
|
NM_017882.3(CLN6):c.388G>A (p.Gly130Ser)
|
|
|
NM_017882.3(CLN6):c.401A>G (p.Asn134Ser)
|
|
|
NM_017882.3(CLN6):c.403C>G (p.His135Asp)
|
|
|
NM_017882.3(CLN6):c.40G>A (p.Gly14Ser)
|
rs2093262651
|
|
NM_017882.3(CLN6):c.410T>A (p.Leu137Gln)
|
|
|
NM_017882.3(CLN6):c.412C>T (p.Leu138Phe)
|
|
|
NM_017882.3(CLN6):c.431A>G (p.His144Arg)
|
rs1595818258
|
|
NM_017882.3(CLN6):c.455C>G (p.Pro152Arg)
|
rs2141139183
|
|
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu)
|
rs919850756
|
|
NM_017882.3(CLN6):c.487-7C>G
|
rs2141138813
|
|
NM_017882.3(CLN6):c.490G>A (p.Asp164Asn)
|
rs779685727
|
|
NM_017882.3(CLN6):c.493T>C (p.Ser165Pro)
|
|
|
NM_017882.3(CLN6):c.494C>T (p.Ser165Phe)
|
rs1595818025
|
|
NM_017882.3(CLN6):c.497T>C (p.Phe166Ser)
|
rs2093204354
|
|
NM_017882.3(CLN6):c.4G>A (p.Glu2Lys)
|
rs796052360
|
|
NM_017882.3(CLN6):c.506T>A (p.Leu169His)
|
rs1344658850
|
|
NM_017882.3(CLN6):c.516TGA[1] (p.Asp173del)
|
rs916824303
|
|
NM_017882.3(CLN6):c.542+5G>T
|
rs786205066
|
|
NM_017882.3(CLN6):c.543-10C>A
|
rs767297743
|
|
NM_017882.3(CLN6):c.551C>T (p.Pro184Leu)
|
|
|
NM_017882.3(CLN6):c.553T>G (p.Phe185Val)
|
rs2093199272
|
|
NM_017882.3(CLN6):c.553TTC[1] (p.Phe186del)
|
rs2141137304
|
|
NM_017882.3(CLN6):c.559C>T (p.Leu187Phe)
|
rs764670832
|
|
NM_017882.3(CLN6):c.563T>C (p.Ile188Thr)
|
rs763059017
|
|
NM_017882.3(CLN6):c.565C>T (p.Leu189Phe)
|
|
|
NM_017882.3(CLN6):c.570_572del (p.Phe190_Met191delinsLeu)
|
|
|
NM_017882.3(CLN6):c.571A>G (p.Met191Val)
|
rs1555438435
|
|
NM_017882.3(CLN6):c.57G>C (p.Gln19His)
|
rs2093262571
|
|
NM_017882.3(CLN6):c.602A>C (p.Lys201Thr)
|
rs2141137255
|
|
NM_017882.3(CLN6):c.617T>C (p.Ile206Thr)
|
rs2141137247
|
|
NM_017882.3(CLN6):c.61_62insCGG (p.Leu20_Gly21insAla)
|
rs878855040
|
|
NM_017882.3(CLN6):c.623G>A (p.Gly208Glu)
|
rs2141137239
|
|
NM_017882.3(CLN6):c.625C>T (p.Pro209Ser)
|
rs1064794559
|
|
NM_017882.3(CLN6):c.640G>A (p.Val214Met)
|
|
|
NM_017882.3(CLN6):c.649A>G (p.Ser217Gly)
|
rs1567095087
|
|
NM_017882.3(CLN6):c.64G>A (p.Ala22Thr)
|
rs527373013
|
|
NM_017882.3(CLN6):c.653G>A (p.Gly218Asp)
|
rs1160988895
|
|
NM_017882.3(CLN6):c.653G>T (p.Gly218Val)
|
rs1160988895
|
|
NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys)
|
rs764571295
|
|
NM_017882.3(CLN6):c.667T>C (p.Tyr223His)
|
rs2093194324
|
|
NM_017882.3(CLN6):c.683G>A (p.Gly228Asp)
|
|
|
NM_017882.3(CLN6):c.685C>G (p.Gln229Glu)
|
|
|
NM_017882.3(CLN6):c.68C>A (p.Ser23Tyr)
|
|
|
NM_017882.3(CLN6):c.696C>G (p.Ile232Met)
|
rs2141136135
|
|
NM_017882.3(CLN6):c.701T>C (p.Phe234Ser)
|
rs2141136125
|
|
NM_017882.3(CLN6):c.706T>G (p.Phe236Val)
|
rs796052358
|
|
NM_017882.3(CLN6):c.730C>G (p.Leu244Val)
|
rs2093194059
|
|
NM_017882.3(CLN6):c.746A>C (p.Lys249Thr)
|
|
|
NM_017882.3(CLN6):c.757C>T (p.Leu253Phe)
|
rs1274562752
|
|
NM_017882.3(CLN6):c.773A>G (p.Asn258Ser)
|
|
|
NM_017882.3(CLN6):c.783C>G (p.Phe261Leu)
|
|
|
NM_017882.3(CLN6):c.814C>G (p.Leu272Val)
|
|
|
NM_017882.3(CLN6):c.828G>T (p.Trp276Cys)
|
rs2093193718
|
|
NM_017882.3(CLN6):c.82A>T (p.Arg28Trp)
|
rs2093262448
|
|
NM_017882.3(CLN6):c.83+15G>A
|
|
|
NM_017882.3(CLN6):c.83+6C>T
|
|
|
NM_017882.3(CLN6):c.838C>A (p.Leu280Met)
|
|
|
NM_017882.3(CLN6):c.849C>A (p.Asp283Glu)
|
rs1239948245
|
|
NM_017882.3(CLN6):c.859A>T (p.Arg287Trp)
|
rs2141135931
|
|
NM_017882.3(CLN6):c.864G>T (p.Lys288Asn)
|
|
|
NM_017882.3(CLN6):c.875G>C (p.Gly292Ala)
|
|
|
NM_017882.3(CLN6):c.915del (p.His306fs)
|
|
|
NM_017882.3(CLN6):c.919G>A (p.Val307Ile)
|
rs146801142
|
|
NM_017882.3(CLN6):c.919G>T (p.Val307Phe)
|
rs146801142
|
|
NM_017882.3(CLN6):c.921_922delinsTC (p.Ser308Arg)
|
rs2141135839
|
|
NM_017882.3(CLN6):c.925A>C (p.Ser309Arg)
|
rs762916725
|
|
NM_017882.3(CLN6):c.925A>G (p.Ser309Gly)
|
rs762916725
|
|
NM_017882.3(CLN6):c.928C>T (p.Arg310Trp)
|
|
|
NM_017882.3(CLN6):c.92C>G (p.Ser31Cys)
|
rs2141145171
|
|
NM_017882.3(CLN6):c.95T>G (p.Val32Gly)
|
|
|
NM_018941.4(CLN8):c.112G>T (p.Val38Phe)
|
rs370199508
|
|
NM_018941.4(CLN8):c.127C>T (p.His43Tyr)
|
rs541840243
|
|
NM_018941.4(CLN8):c.15C>G (p.Ser5Arg)
|
rs374597781
|
|
NM_018941.4(CLN8):c.160C>A (p.Arg54Ser)
|
|
|
NM_018941.4(CLN8):c.163T>G (p.Ser55Ala)
|
|
|
NM_018941.4(CLN8):c.16G>A (p.Asp6Asn)
|
rs200999640
|
|
NM_018941.4(CLN8):c.16G>C (p.Asp6His)
|
rs200999640
|
|
NM_018941.4(CLN8):c.182A>C (p.Lys61Thr)
|
|
|
NM_018941.4(CLN8):c.187T>C (p.Phe63Leu)
|
|
|
NM_018941.4(CLN8):c.18T>A (p.Asp6Glu)
|
rs1464108080
|
|
NM_018941.4(CLN8):c.18T>G (p.Asp6Glu)
|
|
|
NM_018941.4(CLN8):c.194A>T (p.Asp65Val)
|
|
|
NM_018941.4(CLN8):c.19G>A (p.Gly7Arg)
|
rs764099428
|
|
NM_018941.4(CLN8):c.209G>C (p.Arg70Pro)
|
rs386834124
|
|
NM_018941.4(CLN8):c.20G>C (p.Gly7Ala)
|
|
|
NM_018941.4(CLN8):c.227A>C (p.Gln76Pro)
|
|
|
NM_018941.4(CLN8):c.229A>G (p.Ser77Gly)
|
|
|
NM_018941.4(CLN8):c.236C>T (p.Ala79Val)
|
|
|
NM_018941.4(CLN8):c.238G>A (p.Ala80Thr)
|
rs998922998
|
|
NM_018941.4(CLN8):c.23G>T (p.Gly8Val)
|
rs781017885
|
|
NM_018941.4(CLN8):c.265C>A (p.Pro89Thr)
|
|
|
NM_018941.4(CLN8):c.265C>G (p.Pro89Ala)
|
rs1486320972
|
|
NM_018941.4(CLN8):c.268G>T (p.Val90Leu)
|
|
|
NM_018941.4(CLN8):c.26C>T (p.Thr9Ile)
|
rs1174240541
|
|
NM_018941.4(CLN8):c.274C>G (p.His92Asp)
|
rs34030778
|
|
NM_018941.4(CLN8):c.278C>G (p.Ala93Gly)
|
rs1468620144
|
|
NM_018941.4(CLN8):c.27A>G (p.Thr9=)
|
rs750274455
|
|
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.290G>T (p.Arg97Leu)
|
rs116605307
|
|
NM_018941.4(CLN8):c.299A>G (p.Gln100Arg)
|
|
|
NM_018941.4(CLN8):c.29C>T (p.Ser10Leu)
|
rs1454175058
|
|
NM_018941.4(CLN8):c.303C>G (p.Asn101Lys)
|
rs755831055
|
|
NM_018941.4(CLN8):c.306G>C (p.Trp102Cys)
|
rs1554449124
|
|
NM_018941.4(CLN8):c.312G>T (p.Trp104Cys)
|
rs1554449136
|
|
NM_018941.4(CLN8):c.322A>G (p.Thr108Ala)
|
|
|
NM_018941.4(CLN8):c.331A>G (p.Thr111Ala)
|
rs1563107925
|
|
NM_018941.4(CLN8):c.344G>C (p.Cys115Ser)
|
|
|
NM_018941.4(CLN8):c.353A>C (p.Asn118Thr)
|
|
|
NM_018941.4(CLN8):c.358G>T (p.Ala120Ser)
|
rs1353274959
|
|
NM_018941.4(CLN8):c.359C>T (p.Ala120Val)
|
|
|
NM_018941.4(CLN8):c.35G>C (p.Ser12Thr)
|
rs1775036577
|
|
NM_018941.4(CLN8):c.361G>A (p.Val121Ile)
|
rs1223417396
|
|
NM_018941.4(CLN8):c.371C>A (p.Ser124Tyr)
|
rs1198837795
|
|
NM_018941.4(CLN8):c.374A>T (p.Asn125Ile)
|
rs142269885
|
|
NM_018941.4(CLN8):c.37A>G (p.Ile13Val)
|
rs1563107126
|
|
NM_018941.4(CLN8):c.380T>G (p.Ile127Ser)
|
|
|
NM_018941.4(CLN8):c.382T>C (p.Phe128Leu)
|
rs1801301214
|
|
NM_018941.4(CLN8):c.385C>G (p.Arg129Gly)
|
|
|
NM_018941.4(CLN8):c.389C>T (p.Thr130Ile)
|
rs1165037847
|
|
NM_018941.4(CLN8):c.392T>G (p.Phe131Cys)
|
rs1404214432
|
|
NM_018941.4(CLN8):c.399G>T (p.Leu133Phe)
|
rs948684101
|
|
NM_018941.4(CLN8):c.39T>G (p.Ile13Met)
|
rs1801279215
|
|
NM_018941.4(CLN8):c.415C>T (p.His139Tyr)
|
rs386834127
|
|
NM_018941.4(CLN8):c.427T>G (p.Phe143Val)
|
rs2130992340
|
|
NM_018941.4(CLN8):c.446G>A (p.Cys149Tyr)
|
|
|
NM_018941.4(CLN8):c.452T>C (p.Val151Ala)
|
rs752026391
|
|
NM_018941.4(CLN8):c.457C>G (p.Leu153Val)
|
|
|
NM_018941.4(CLN8):c.46C>A (p.Leu16Met)
|
rs386834129
|
|
NM_018941.4(CLN8):c.471C>G (p.His157Gln)
|
rs1585138507
|
|
NM_018941.4(CLN8):c.485C>G (p.Thr162Ser)
|
rs1554449289
|
|
NM_018941.4(CLN8):c.499G>A (p.Glu167Lys)
|
rs144495588
|
|
NM_018941.4(CLN8):c.509C>G (p.Thr170Arg)
|
|
|
NM_018941.4(CLN8):c.50A>T (p.Asp17Val)
|
rs148668081
|
|
NM_018941.4(CLN8):c.512C>G (p.Pro171Arg)
|
rs1184115888
|
|
NM_018941.4(CLN8):c.518C>T (p.Thr173Ile)
|
|
|
NM_018941.4(CLN8):c.523G>C (p.Val175Leu)
|
rs768139689
|
|
NM_018941.4(CLN8):c.53A>G (p.Tyr18Cys)
|
rs142104002
|
|
NM_018941.4(CLN8):c.543+5G>C
|
|
|
NM_018941.4(CLN8):c.544-2A>C
|
|
|
NM_018941.4(CLN8):c.544G>A (p.Ala182Thr)
|
|
|
NM_018941.4(CLN8):c.550T>G (p.Trp184Gly)
|
rs1801670539
|
|
NM_018941.4(CLN8):c.560C>G (p.Ser187Cys)
|
rs775174607
|
|
NM_018941.4(CLN8):c.56C>T (p.Ala19Val)
|
rs942360618
|
|
NM_018941.4(CLN8):c.571A>C (p.Lys191Gln)
|
rs1801671671
|
|
NM_018941.4(CLN8):c.573G>C (p.Lys191Asn)
|
|
|
NM_018941.4(CLN8):c.578A>G (p.Asn193Ser)
|
|
|
NM_018941.4(CLN8):c.579C>A (p.Asn193Lys)
|
|
|
NM_018941.4(CLN8):c.582G>C (p.Gln194His)
|
rs139824802
|
|
NM_018941.4(CLN8):c.583T>A (p.Trp195Arg)
|
rs766924857
|
|
NM_018941.4(CLN8):c.586C>G (p.Leu196Val)
|
rs1459482330
|
|
NM_018941.4(CLN8):c.598A>T (p.Met200Leu)
|
rs749595247
|
|
NM_018941.4(CLN8):c.59C>T (p.Ser20Phe)
|
rs749651452
|
|
NM_018941.4(CLN8):c.5A>G (p.Asn2Ser)
|
|
|
NM_018941.4(CLN8):c.606C>G (p.His202Gln)
|
|
|
NM_018941.4(CLN8):c.613A>G (p.Met205Val)
|
|
|
NM_018941.4(CLN8):c.616G>T (p.Val206Phe)
|
rs751249766
|
|
NM_018941.4(CLN8):c.630C>G (p.His210Gln)
|
|
|
NM_018941.4(CLN8):c.631A>T (p.Met211Leu)
|
|
|
NM_018941.4(CLN8):c.632T>C (p.Met211Thr)
|
|
|
NM_018941.4(CLN8):c.636G>C (p.Trp212Cys)
|
|
|
NM_018941.4(CLN8):c.639G>C (p.Trp213Cys)
|
|
|
NM_018941.4(CLN8):c.650G>C (p.Trp217Ser)
|
|
|
NM_018941.4(CLN8):c.667G>C (p.Val223Leu)
|
rs1801676517
|
|
NM_018941.4(CLN8):c.682C>G (p.Leu228Val)
|
rs1585151658
|
|
NM_018941.4(CLN8):c.686C>T (p.Pro229Leu)
|
|
|
NM_018941.4(CLN8):c.690T>G (p.His230Gln)
|
|
|
NM_018941.4(CLN8):c.694A>C (p.Thr232Pro)
|
|
|
NM_018941.4(CLN8):c.703C>T (p.Leu235Phe)
|
|
|
NM_018941.4(CLN8):c.706G>A (p.Val236Ile)
|
rs371830719
|
|
NM_018941.4(CLN8):c.706G>C (p.Val236Leu)
|
|
|
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.731T>C (p.Ile244Thr)
|
|
|
NM_018941.4(CLN8):c.732C>G (p.Ile244Met)
|
rs747778614
|
|
NM_018941.4(CLN8):c.743A>G (p.Tyr248Cys)
|
|
|
NM_018941.4(CLN8):c.745T>C (p.Trp249Arg)
|
|
|
NM_018941.4(CLN8):c.763C>G (p.Gln255Glu)
|
rs746397087
|
|
NM_018941.4(CLN8):c.76A>T (p.Thr26Ser)
|
|
|
NM_018941.4(CLN8):c.775A>G (p.Asn259Asp)
|
rs1044299834
|
|
NM_018941.4(CLN8):c.776A>T (p.Asn259Ile)
|
rs201956727
|
|
NM_018941.4(CLN8):c.77C>G (p.Thr26Arg)
|
rs755846977
|
|
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.782T>C (p.Val261Ala)
|
|
|
NM_018941.4(CLN8):c.796G>T (p.Ala266Ser)
|
|
|
NM_018941.4(CLN8):c.797C>T (p.Ala266Val)
|
|
|
NM_018941.4(CLN8):c.7C>T (p.Pro3Ser)
|
rs767218890
|
|
NM_018941.4(CLN8):c.801G>C (p.Gln267His)
|
|
|
NM_018941.4(CLN8):c.801dup (p.Pro268fs)
|
|
|
NM_018941.4(CLN8):c.806A>G (p.Glu269Gly)
|
rs139003032
|
|
NM_018941.4(CLN8):c.809C>T (p.Ala270Val)
|
rs2129015316
|
|
NM_018941.4(CLN8):c.820C>T (p.Pro274Ser)
|
|
|
NM_018941.4(CLN8):c.827del (p.Gly276fs)
|
rs1365308812
|
|
NM_018941.4(CLN8):c.830A>G (p.Asn277Ser)
|
|
|
NM_018941.4(CLN8):c.835C>T (p.Gln279Ter)
|
|
|
NM_018941.4(CLN8):c.845G>C (p.Arg282Pro)
|
rs766172825
|
|
NM_018941.4(CLN8):c.851A>C (p.Lys284Thr)
|
rs2129015342
|
|
NM_018941.4(CLN8):c.859dup (p.Ter287LeuextTer?)
|
rs2129015346
|
|
NM_018941.4(CLN8):c.85G>T (p.Val29Phe)
|
|
|
NM_018941.4(CLN8):c.94T>G (p.Phe32Val)
|
rs758068226
|
|
NM_018941.4(CLN8):c.97G>C (p.Val33Leu)
|
rs1801284979
|
|
NM_022089.4(ATP13A2):c.103G>A (p.Val35Met)
|
|
|
NM_022089.4(ATP13A2):c.106-13G>A
|
|
|
NM_022089.4(ATP13A2):c.1075G>A (p.Glu359Lys)
|
|
|
NM_022089.4(ATP13A2):c.1093T>C (p.Cys365Arg)
|
|
|
NM_022089.4(ATP13A2):c.1105C>G (p.His369Asp)
|
rs2077158233
|
|
NM_022089.4(ATP13A2):c.1111C>T (p.Arg371Trp)
|
rs746292302
|
|
NM_022089.4(ATP13A2):c.1120C>A (p.Leu374Ile)
|
|
|
NM_022089.4(ATP13A2):c.1126T>C (p.Cys376Arg)
|
rs1570833382
|
|
NM_022089.4(ATP13A2):c.112A>G (p.Ser38Gly)
|
rs780883238
|
|
NM_022089.4(ATP13A2):c.1145A>G (p.Gln382Arg)
|
|
|
NM_022089.4(ATP13A2):c.1157A>T (p.Tyr386Phe)
|
rs762628723
|
|
NM_022089.4(ATP13A2):c.1170C>A (p.His390Gln)
|
rs201661480
|
|
NM_022089.4(ATP13A2):c.1190G>A (p.Arg397His)
|
|
|
NM_022089.4(ATP13A2):c.1196G>A (p.Gly399Glu)
|
rs2100897670
|
|
NM_022089.4(ATP13A2):c.1208C>A (p.Ala403Glu)
|
rs373349384
|
|
NM_022089.4(ATP13A2):c.1219C>A (p.Leu407Met)
|
rs773702054
|
|
NM_022089.4(ATP13A2):c.1227C>G (p.Ser409Arg)
|
|
|
NM_022089.4(ATP13A2):c.1243C>A (p.Arg415=)
|
|
|
NM_022089.4(ATP13A2):c.1272C>A (p.His424Gln)
|
|
|
NM_022089.4(ATP13A2):c.1276A>G (p.Met426Val)
|
|
|
NM_022089.4(ATP13A2):c.1279A>G (p.Lys427Glu)
|
|
|
NM_022089.4(ATP13A2):c.1306G>A (p.Ala436Thr)
|
rs1439546959
|
|
NM_022089.4(ATP13A2):c.1322T>C (p.Ile441Thr)
|
|
|
NM_022089.4(ATP13A2):c.1325_1333del (p.Tyr442_Ile444del)
|
|
|
NM_022089.4(ATP13A2):c.1346G>A (p.Arg449Gln)
|
|
|
NM_022089.4(ATP13A2):c.1351C>T (p.Arg451Trp)
|
|
|
NM_022089.4(ATP13A2):c.1353G>A (p.Arg451=)
|
|
|
NM_022089.4(ATP13A2):c.1360C>G (p.Leu454Val)
|
rs2100884368
|
|
NM_022089.4(ATP13A2):c.13A>G (p.Ser5Gly)
|
rs2101131465
|
|
NM_022089.4(ATP13A2):c.1400T>A (p.Val467Glu)
|
|
|
NM_022089.4(ATP13A2):c.1422TGC[3] (p.Ala476_Met477insAla)
|
|
|
NM_022089.4(ATP13A2):c.1466G>A (p.Arg489Gln)
|
|
|
NM_022089.4(ATP13A2):c.1466G>T (p.Arg489Leu)
|
rs760567858
|
|
NM_022089.4(ATP13A2):c.1477A>C (p.Ile493Leu)
|
rs1570821678
|
|
NM_022089.4(ATP13A2):c.148T>C (p.Tyr50His)
|
rs2101123287
|
|
NM_022089.4(ATP13A2):c.1498C>T (p.Arg500Cys)
|
|
|
NM_022089.4(ATP13A2):c.1542+13dup
|
rs1367928615
|
|
NM_022089.4(ATP13A2):c.1564G>A (p.Gly522Ser)
|
|
|
NM_022089.4(ATP13A2):c.1570G>A (p.Asp524Asn)
|
|
|
NM_022089.4(ATP13A2):c.1589C>T (p.Pro530Leu)
|
rs2077019285
|
|
NM_022089.4(ATP13A2):c.1591C>G (p.Leu531Val)
|
rs2077019135
|
|
NM_022089.4(ATP13A2):c.1592T>C (p.Leu531Pro)
|
rs2100818906
|
|
NM_022089.4(ATP13A2):c.1594_1617dup (p.Lys532_Leu539dup)
|
rs766184032
|
|
NM_022089.4(ATP13A2):c.1621C>T (p.Pro541Ser)
|
|
|
NM_022089.4(ATP13A2):c.1649C>A (p.Pro550His)
|
rs1379076892
|
|
NM_022089.4(ATP13A2):c.165G>C (p.Trp55Cys)
|
|
|
NM_022089.4(ATP13A2):c.1685G>A (p.Ser562Asn)
|
rs2100815818
|
|
NM_022089.4(ATP13A2):c.1696G>A (p.Asp566Asn)
|
rs2100815502
|
|
NM_022089.4(ATP13A2):c.1705G>A (p.Val569Met)
|
|
|
NM_022089.4(ATP13A2):c.1720G>A (p.Asp574Asn)
|
|
|
NM_022089.4(ATP13A2):c.1749+15C>G
|
|
|
NM_022089.4(ATP13A2):c.1749+5G>C
|
|
|
NM_022089.4(ATP13A2):c.1762G>A (p.Glu588Lys)
|
rs1251315572
|
|
NM_022089.4(ATP13A2):c.1766C>A (p.Pro589Gln)
|
|
|
NM_022089.4(ATP13A2):c.1772C>T (p.Ala591Val)
|
rs758957419
|
|
NM_022089.4(ATP13A2):c.1780G>A (p.Ala594Thr)
|
|
|
NM_022089.4(ATP13A2):c.1795G>A (p.Val599Ile)
|
rs764411847
|
|
NM_022089.4(ATP13A2):c.1819C>G (p.Leu607Val)
|
|
|
NM_022089.4(ATP13A2):c.1843A>G (p.Met615Val)
|
rs200529993
|
|
NM_022089.4(ATP13A2):c.1853C>A (p.Pro618His)
|
|
|
NM_022089.4(ATP13A2):c.1859T>C (p.Val620Ala)
|
rs2100782693
|
|
NM_022089.4(ATP13A2):c.190C>T (p.Leu64Phe)
|
|
|
NM_022089.4(ATP13A2):c.1931C>G (p.Pro644Arg)
|
rs2100780847
|
|
NM_022089.4(ATP13A2):c.196C>G (p.Arg66Gly)
|
|
|
NM_022089.4(ATP13A2):c.2028G>T (p.Met676Ile)
|
|
|
NM_022089.4(ATP13A2):c.2045C>T (p.Ala682Val)
|
|
|
NM_022089.4(ATP13A2):c.20C>T (p.Pro7Leu)
|
rs2077535736
|
|
NM_022089.4(ATP13A2):c.2123C>T (p.Thr708Met)
|
|
|
NM_022089.4(ATP13A2):c.212G>C (p.Trp71Ser)
|
rs373607247
|
|
NM_022089.4(ATP13A2):c.2130C>A (p.Asp710Glu)
|
rs2076943011
|
|
NM_022089.4(ATP13A2):c.2134G>C (p.Val712Leu)
|
|
|
NM_022089.4(ATP13A2):c.2147T>G (p.Leu716Arg)
|
|
|
NM_022089.4(ATP13A2):c.2178C>G (p.Asn726Lys)
|
|
|
NM_022089.4(ATP13A2):c.2180T>C (p.Leu727Pro)
|
|
|
NM_022089.4(ATP13A2):c.2189C>T (p.Pro730Leu)
|
|
|
NM_022089.4(ATP13A2):c.218T>C (p.Val73Ala)
|
|
|
NM_022089.4(ATP13A2):c.2208C>G (p.Ile736Met)
|
rs1372021672
|
|
NM_022089.4(ATP13A2):c.2218C>G (p.Arg740Gly)
|
rs973767624
|
|
NM_022089.4(ATP13A2):c.2227C>T (p.Arg743Cys)
|
|
|
NM_022089.4(ATP13A2):c.2230A>G (p.Ile744Val)
|
rs1401459588
|
|
NM_022089.4(ATP13A2):c.2239G>A (p.Val747Ile)
|
|
|
NM_022089.4(ATP13A2):c.2251+5A>G
|
|
|
NM_022089.4(ATP13A2):c.2252-12C>G
|
|
|
NM_022089.4(ATP13A2):c.227G>A (p.Arg76Gln)
|
|
|
NM_022089.4(ATP13A2):c.2305C>T (p.Pro769Ser)
|
|
|
NM_022089.4(ATP13A2):c.2309A>G (p.Gln770Arg)
|
rs77630788
|
|
NM_022089.4(ATP13A2):c.2326G>A (p.Val776Ile)
|
rs56170027
|
|
NM_022089.4(ATP13A2):c.2333C>G (p.Ala778Gly)
|
|
|
NM_022089.4(ATP13A2):c.2339A>C (p.His780Pro)
|
rs867014635
|
|
NM_022089.4(ATP13A2):c.2395G>A (p.Ala799Thr)
|
|
|
NM_022089.4(ATP13A2):c.2417C>T (p.Pro806Leu)
|
rs2100727013
|
|
NM_022089.4(ATP13A2):c.2429C>T (p.Ala810Val)
|
|
|
NM_022089.4(ATP13A2):c.2451C>G (p.Asp817Glu)
|
|
|
NM_022089.4(ATP13A2):c.2459C>G (p.Ser820Cys)
|
|
|
NM_022089.4(ATP13A2):c.2464C>T (p.His822Tyr)
|
rs2100725484
|
|
NM_022089.4(ATP13A2):c.2478C>G (p.Ser826Arg)
|
rs147611385
|
|
NM_022089.4(ATP13A2):c.2483C>T (p.Pro828Leu)
|
rs1235764815
|
|
NM_022089.4(ATP13A2):c.2488T>G (p.Phe830Val)
|
|
|
NM_022089.4(ATP13A2):c.2527A>C (p.Lys843Gln)
|
rs2100724045
|
|
NM_022089.4(ATP13A2):c.2544C>T (p.Gly848=)
|
rs769033175
|
|
NM_022089.4(ATP13A2):c.2548G>C (p.Val850Leu)
|
|
|
NM_022089.4(ATP13A2):c.2557C>G (p.Arg853Gly)
|
rs772243999
|
|
NM_022089.4(ATP13A2):c.256G>A (p.Glu86Lys)
|
|
|
NM_022089.4(ATP13A2):c.258A>C (p.Glu86Asp)
|
|
|
NM_022089.4(ATP13A2):c.2593G>C (p.Glu865Gln)
|
|
|
NM_022089.4(ATP13A2):c.2675G>A (p.Gly892Asp)
|
|
|
NM_022089.4(ATP13A2):c.271G>A (p.Glu91Lys)
|
|
|
NM_022089.4(ATP13A2):c.2766G>T (p.Glu922Asp)
|
|
|
NM_022089.4(ATP13A2):c.2835C>A (p.Phe945Leu)
|
|
|
NM_022089.4(ATP13A2):c.284A>G (p.Lys95Arg)
|
rs2101118952
|
|
NM_022089.4(ATP13A2):c.2858C>G (p.Thr953Arg)
|
rs148721722
|
|
NM_022089.4(ATP13A2):c.2858C>T (p.Thr953Met)
|
rs148721722
|
|
NM_022089.4(ATP13A2):c.2859G>T (p.Thr953=)
|
rs144557304
|
|
NM_022089.4(ATP13A2):c.2864A>G (p.Asn955Ser)
|
|
|
NM_022089.4(ATP13A2):c.2867C>G (p.Thr956Ser)
|
|
|
NM_022089.4(ATP13A2):c.288+13C>G
|
rs1300682662
|
|
NM_022089.4(ATP13A2):c.2888T>C (p.Phe963Ser)
|
rs2100659067
|
|
NM_022089.4(ATP13A2):c.2899G>C (p.Asp967His)
|
rs772870846
|
|
NM_022089.4(ATP13A2):c.2905G>C (p.Val969Leu)
|
rs769445714
|
|
NM_022089.4(ATP13A2):c.2910CAC[2] (p.Thr973del)
|
|
|
NM_022089.4(ATP13A2):c.2927T>C (p.Val976Ala)
|
rs776148733
|
|
NM_022089.4(ATP13A2):c.2927T>G (p.Val976Gly)
|
rs776148733
|
|
NM_022089.4(ATP13A2):c.2954T>C (p.Leu985Pro)
|
|
|
NM_022089.4(ATP13A2):c.2965C>T (p.Arg989Trp)
|
|
|
NM_022089.4(ATP13A2):c.2970_2971delinsAT (p.Arg991Trp)
|
rs2100656614
|
|
NM_022089.4(ATP13A2):c.2978C>G (p.Pro993Arg)
|
rs146559160
|
|
NM_022089.4(ATP13A2):c.2984C>T (p.Ala995Val)
|
|
|
NM_022089.4(ATP13A2):c.2T>G (p.Met1Arg)
|
rs1557729552
|
|
NM_022089.4(ATP13A2):c.3040G>C (p.Gly1014Arg)
|
|
|
NM_022089.4(ATP13A2):c.3041_3043dup (p.Gly1014dup)
|
rs2100654427
|
|
NM_022089.4(ATP13A2):c.3065T>C (p.Leu1022Pro)
|
rs2076761037
|
|
NM_022089.4(ATP13A2):c.3068C>T (p.Thr1023Ile)
|
rs951420437
|
|
NM_022089.4(ATP13A2):c.3080C>A (p.Pro1027Gln)
|
|
|
NM_022089.4(ATP13A2):c.3083+5G>A
|
|
|
NM_022089.4(ATP13A2):c.3084-10G>T
|
rs368908107
|
|
NM_022089.4(ATP13A2):c.3084-7C>A
|
|
|
NM_022089.4(ATP13A2):c.3184G>T (p.Ala1062Ser)
|
|
|
NM_022089.4(ATP13A2):c.3193G>T (p.Val1065Leu)
|
rs377431904
|
|
NM_022089.4(ATP13A2):c.3206C>A (p.Ala1069Glu)
|
rs764988645
|
|
NM_022089.4(ATP13A2):c.3206C>G (p.Ala1069Gly)
|
|
|
NM_022089.4(ATP13A2):c.3235+14C>T
|
|
|
NM_022089.4(ATP13A2):c.3239C>A (p.Pro1080His)
|
|
|
NM_022089.4(ATP13A2):c.3247G>C (p.Val1083Leu)
|
|
|
NM_022089.4(ATP13A2):c.3256G>A (p.Ala1086Thr)
|
|
|
NM_022089.4(ATP13A2):c.3271G>A (p.Val1091Ile)
|
|
|
NM_022089.4(ATP13A2):c.3277G>C (p.Val1093Leu)
|
rs1057522952
|
|
NM_022089.4(ATP13A2):c.3301C>T (p.Leu1101Phe)
|
rs886045577
|
|
NM_022089.4(ATP13A2):c.3314C>G (p.Pro1105Arg)
|
|
|
NM_022089.4(ATP13A2):c.3343G>A (p.Gly1115Ser)
|
rs145674970
|
|
NM_022089.4(ATP13A2):c.3399G>A (p.Met1133Ile)
|
|
|
NM_022089.4(ATP13A2):c.3408C>A (p.Ser1136Arg)
|
rs779310083
|
|
NM_022089.4(ATP13A2):c.3422G>T (p.Cys1141Phe)
|
|
|
NM_022089.4(ATP13A2):c.3439C>A (p.Arg1147Ser)
|
|
|
NM_022089.4(ATP13A2):c.3448C>T (p.Arg1150Trp)
|
|
|
NM_022089.4(ATP13A2):c.3449G>A (p.Arg1150Gln)
|
|
|
NM_022089.4(ATP13A2):c.344G>T (p.Gly115Val)
|
|
|
NM_022089.4(ATP13A2):c.3458G>C (p.Arg1153Pro)
|
rs772666861
|
|
NM_022089.4(ATP13A2):c.347+17_347+18delinsAT
|
|
|
NM_022089.4(ATP13A2):c.3471G>T (p.Lys1157Asn)
|
rs2100626361
|
|
NM_022089.4(ATP13A2):c.3472C>A (p.Arg1158Ser)
|
rs201610681
|
|
NM_022089.4(ATP13A2):c.3476T>C (p.Phe1159Ser)
|
rs1553164387
|
|
NM_022089.4(ATP13A2):c.348C>G (p.Ser116Arg)
|
rs2077491125
|
|
NM_022089.4(ATP13A2):c.3490C>T (p.Arg1164Ter)
|
|
|
NM_022089.4(ATP13A2):c.3502G>A (p.Glu1168Lys)
|
|
|
NM_022089.4(ATP13A2):c.3503_3516dup (p.Pro1173fs)
|
rs779637529
|
|
NM_022089.4(ATP13A2):c.3535del (p.Pro1178_Leu1179insTer)
|
rs1570752813
|
|
NM_022089.4(ATP13A2):c.3543G>A (p.Ter1181=)
|
|
|
NM_022089.4(ATP13A2):c.361C>T (p.Pro121Ser)
|
rs1421953227
|
|
NM_022089.4(ATP13A2):c.373G>C (p.Ala125Pro)
|
|
|
NM_022089.4(ATP13A2):c.374C>A (p.Ala125Glu)
|
|
|
NM_022089.4(ATP13A2):c.401T>C (p.Val134Ala)
|
rs2101102735
|
|
NM_022089.4(ATP13A2):c.43G>A (p.Gly15Ser)
|
|
|
NM_022089.4(ATP13A2):c.44G>C (p.Gly15Ala)
|
rs1287774416
|
|
NM_022089.4(ATP13A2):c.469G>A (p.Val157Ile)
|
|
|
NM_022089.4(ATP13A2):c.482G>A (p.Arg161Gln)
|
|
|
NM_022089.4(ATP13A2):c.484G>T (p.Val162Leu)
|
rs766714391
|
|
NM_022089.4(ATP13A2):c.498C>T (p.Tyr166=)
|
|
|
NM_022089.4(ATP13A2):c.4A>T (p.Ser2Cys)
|
rs2101432066
|
|
NM_022089.4(ATP13A2):c.508G>A (p.Gly170Ser)
|
rs762075619
|
|
NM_022089.4(ATP13A2):c.524G>T (p.Trp175Leu)
|
rs2077471676
|
|
NM_022089.4(ATP13A2):c.589G>A (p.Val197Ile)
|
|
|
NM_022089.4(ATP13A2):c.58A>C (p.Thr20Pro)
|
|
|
NM_022089.4(ATP13A2):c.598T>C (p.Ser200Pro)
|
|
|
NM_022089.4(ATP13A2):c.599C>G (p.Ser200Cys)
|
rs2101047661
|
|
NM_022089.4(ATP13A2):c.629T>A (p.Met210Lys)
|
|
|
NM_022089.4(ATP13A2):c.631G>T (p.Val211Leu)
|
|
|
NM_022089.4(ATP13A2):c.703G>A (p.Glu235Lys)
|
|
|
NM_022089.4(ATP13A2):c.706-3C>T
|
rs753707797
|
|
NM_022089.4(ATP13A2):c.710T>C (p.Leu237Pro)
|
|
|
NM_022089.4(ATP13A2):c.716C>T (p.Pro239Leu)
|
|
|
NM_022089.4(ATP13A2):c.73A>G (p.Ile25Val)
|
|
|
NM_022089.4(ATP13A2):c.811A>G (p.Ile271Val)
|
rs561097876
|
|
NM_022089.4(ATP13A2):c.813C>G (p.Ile271Met)
|
rs1557703924
|
|
NM_022089.4(ATP13A2):c.821C>T (p.Ser274Leu)
|
rs1213129765
|
|
NM_022089.4(ATP13A2):c.835A>G (p.Arg279Gly)
|
|
|
NM_022089.4(ATP13A2):c.840+5G>A
|
|
|
NM_022089.4(ATP13A2):c.840G>T (p.Lys280Asn)
|
rs1326739914
|
|
NM_022089.4(ATP13A2):c.841C>G (p.Gln281Glu)
|
rs2077304764
|
|
NM_022089.4(ATP13A2):c.864G>A (p.Met288Ile)
|
rs866353083
|
|
NM_022089.4(ATP13A2):c.896G>A (p.Arg299Gln)
|
|
|
NM_022089.4(ATP13A2):c.904G>A (p.Gly302Arg)
|
rs948455777
|
|
NM_022089.4(ATP13A2):c.919G>A (p.Val307Met)
|
|
|
NM_022089.4(ATP13A2):c.940C>T (p.Pro314Ser)
|
rs752006308
|
|
NM_022089.4(ATP13A2):c.955G>C (p.Val319Leu)
|
rs1557702165
|
|
NM_022089.4(ATP13A2):c.966G>A (p.Gln322=)
|
|
|
NM_025219.3(DNAJC5):c.107G>A (p.Arg36Gln)
|
|
|
NM_025219.3(DNAJC5):c.141C>A (p.Asn47Lys)
|
rs1600885575
|
|
NM_025219.3(DNAJC5):c.147C>A (p.Asp49Glu)
|
|
|
NM_025219.3(DNAJC5):c.14G>A (p.Arg5Lys)
|
rs1006274437
|
|
NM_025219.3(DNAJC5):c.193G>A (p.Ala65Thr)
|
rs772453351
|
|
NM_025219.3(DNAJC5):c.20G>A (p.Arg7His)
|
rs2053633035
|
|
NM_025219.3(DNAJC5):c.211A>C (p.Thr71Pro)
|
rs2146305478
|
|
NM_025219.3(DNAJC5):c.226T>C (p.Tyr76His)
|
rs2053642970
|
|
NM_025219.3(DNAJC5):c.229G>T (p.Asp77Tyr)
|
rs762638579
|
|
NM_025219.3(DNAJC5):c.232A>G (p.Lys78Glu)
|
rs2053643194
|
|
NM_025219.3(DNAJC5):c.238G>A (p.Gly80Ser)
|
rs1555879996
|
|
NM_025219.3(DNAJC5):c.242C>T (p.Ser81Leu)
|
rs933246467
|
|
NM_025219.3(DNAJC5):c.301C>G (p.Leu101Val)
|
rs2053643951
|
|
NM_025219.3(DNAJC5):c.319A>C (p.Lys107Gln)
|
rs2053644044
|
|
NM_025219.3(DNAJC5):c.321+38_321+63dup
|
|
|
NM_025219.3(DNAJC5):c.322-3C>A
|
rs777923854
|
|
NM_025219.3(DNAJC5):c.322-9T>A
|
rs2146308196
|
|
NM_025219.3(DNAJC5):c.322G>T (p.Ala108Ser)
|
rs1322303376
|
|
NM_025219.3(DNAJC5):c.334T>C (p.Phe112Leu)
|
|
|
NM_025219.3(DNAJC5):c.346C>T (p.Leu116Phe)
|
rs2053663677
|
|
NM_025219.3(DNAJC5):c.400G>A (p.Gly134Arg)
|
|
|
NM_025219.3(DNAJC5):c.428G>C (p.Gly143Ala)
|
|
|
NM_025219.3(DNAJC5):c.42G>C (p.Glu14Asp)
|
rs2053633217
|
|
NM_025219.3(DNAJC5):c.436_437delinsTT (p.Thr146Leu)
|
|
|
NM_025219.3(DNAJC5):c.448G>A (p.Val150Met)
|
rs146719477
|
|
NM_025219.3(DNAJC5):c.479A>G (p.Gln160Arg)
|
|
|
NM_025219.3(DNAJC5):c.487G>C (p.Glu163Gln)
|
rs773217530
|
|
NM_025219.3(DNAJC5):c.488A>G (p.Glu163Gly)
|
rs2053665398
|
|
NM_025219.3(DNAJC5):c.491G>A (p.Arg164Lys)
|
rs762961919
|
|
NM_025219.3(DNAJC5):c.500C>T (p.Thr167Ile)
|
|
|
NM_025219.3(DNAJC5):c.506C>T (p.Thr169Met)
|
rs777119527
|
|
NM_025219.3(DNAJC5):c.518T>C (p.Ile173Thr)
|
|
|
NM_025219.3(DNAJC5):c.520C>T (p.Gln174Ter)
|
rs2146309343
|
|
NM_025219.3(DNAJC5):c.522G>C (p.Gln174His)
|
|
|
NM_025219.3(DNAJC5):c.527C>T (p.Ala176Val)
|
rs199540600
|
|
NM_025219.3(DNAJC5):c.52C>T (p.His18Tyr)
|
|
|
NM_025219.3(DNAJC5):c.532G>A (p.Ala178Thr)
|
rs766374425
|
|
NM_025219.3(DNAJC5):c.538G>A (p.Glu180Lys)
|
|
|
NM_025219.3(DNAJC5):c.563C>T (p.Ser188Phe)
|
|
|
NM_025219.3(DNAJC5):c.578A>G (p.His193Arg)
|
|
|
NM_025219.3(DNAJC5):c.586G>A (p.Gly196Arg)
|
rs748741035
|
|
NM_025219.3(DNAJC5):c.587G>A (p.Gly196Glu)
|
|
|
NM_025219.3(DNAJC5):c.70A>C (p.Lys24Gln)
|
|
|
NM_025219.3(DNAJC5):c.70A>G (p.Lys24Glu)
|
rs1187650085
|
|
NM_025219.3(DNAJC5):c.74A>G (p.Asn25Ser)
|
rs1348706291
|
|
NM_025219.3(DNAJC5):c.86A>G (p.Asp29Gly)
|
rs1374320528
|
|
NM_025219.3(DNAJC5):c.87T>G (p.Asp29Glu)
|
rs1555879894
|
|
NM_025219.3(DNAJC5):c.8A>G (p.Asp3Gly)
|
rs755410138
|
|