NM_000310.4(PPT1):c.*526_*529dup
|
rs397730033
|
0.65899
|
NM_017882.2(CLN6):c.*1157A>G
|
rs8028241
|
0.58511
|
NM_025219.3(DNAJC5):c.*2912C>T
|
rs749723
|
0.17505
|
NM_025219.3(DNAJC5):c.*1442A>G
|
rs61744085
|
0.08435
|
NM_025219.3(DNAJC5):c.*1648C>T
|
rs41278222
|
0.08304
|
NM_025219.3(DNAJC5):c.*2711G>A
|
rs76291580
|
0.08294
|
NM_025219.3(DNAJC5):c.*1106T>G
|
rs11554629
|
0.08271
|
NM_025219.3(DNAJC5):c.*2701C>T
|
rs3206771
|
0.08172
|
NM_025219.3(DNAJC5):c.322-10C>T
|
rs78457562
|
0.07717
|
NM_025219.3(DNAJC5):c.*1303C>T
|
rs41278214
|
0.06711
|
NM_025219.3(DNAJC5):c.*2725G>A
|
rs11554628
|
0.06691
|
NM_025219.3(DNAJC5):c.*2208C>T
|
rs11554631
|
0.06117
|
NM_025219.3(DNAJC5):c.*2601C>T
|
rs112103063
|
0.06085
|
NM_000391.4(TPP1):c.381-10dup
|
rs146315473
|
0.02726
|
NM_025219.3(DNAJC5):c.*4007G>C
|
rs77777268
|
0.02556
|
NM_025219.3(DNAJC5):c.*4385A>T
|
rs77335831
|
0.01815
|
NM_025219.3(DNAJC5):c.*4300C>T
|
rs41278224
|
0.01781
|
NM_025219.3(DNAJC5):c.144C>T (p.Pro48=)
|
rs113987077
|
0.01342
|
NM_025219.3(DNAJC5):c.*3670A>G
|
rs77107548
|
0.01329
|
NM_025219.3(DNAJC5):c.*4117C>T
|
rs11554630
|
0.01268
|
NM_025219.3(DNAJC5):c.*895C>G
|
rs1064345
|
0.01026
|
NM_025219.3(DNAJC5):c.*3629A>G
|
rs73136585
|
0.00578
|
NM_025219.3(DNAJC5):c.*2878T>C
|
rs749724
|
0.00565
|
NM_025219.3(DNAJC5):c.*817C>T
|
rs114525694
|
0.00491
|
NM_025219.3(DNAJC5):c.*1364C>T
|
rs61735744
|
0.00449
|
NM_025219.3(DNAJC5):c.*909G>T
|
rs114038171
|
0.00395
|
NM_025219.3(DNAJC5):c.*1235C>T
|
rs149675982
|
0.00347
|
NM_025219.3(DNAJC5):c.*1342G>A
|
rs41278218
|
0.00334
|
NM_025219.3(DNAJC5):c.132C>T (p.Pro44=)
|
rs140948457
|
0.00314
|
NM_025219.3(DNAJC5):c.*3204C>T
|
rs140377993
|
0.00248
|
NM_025219.3(DNAJC5):c.*1820C>A
|
rs182604967
|
0.00237
|
NM_025219.3(DNAJC5):c.*1183G>T
|
rs562364964
|
0.00208
|
NM_025219.3(DNAJC5):c.*750G>T
|
rs140106848
|
0.00140
|
NM_025219.3(DNAJC5):c.*195G>A
|
rs180676568
|
0.00135
|
NM_025219.3(DNAJC5):c.*1433G>A
|
rs41278220
|
0.00125
|
NM_025219.3(DNAJC5):c.*1220G>A
|
rs73136582
|
0.00115
|
NM_025219.3(DNAJC5):c.*1556A>G
|
rs58526294
|
0.00108
|
NM_025219.3(DNAJC5):c.*3269C>G
|
rs528394634
|
0.00107
|
NM_025219.3(DNAJC5):c.*2218A>G
|
rs142121195
|
0.00106
|
NM_025219.3(DNAJC5):c.-109A>G
|
rs750302498
|
0.00102
|
NM_025219.3(DNAJC5):c.*2790C>T
|
rs55665472
|
0.00101
|
NM_025219.3(DNAJC5):c.107+10C>T
|
rs181906972
|
0.00101
|
NM_025219.3(DNAJC5):c.*4006C>T
|
rs138866062
|
0.00079
|
NM_025219.3(DNAJC5):c.*4065G>A
|
rs373099874
|
0.00076
|
NM_025219.3(DNAJC5):c.107+12A>G
|
rs372843187
|
0.00074
|
NM_025219.3(DNAJC5):c.*2039C>T
|
rs79245733
|
0.00073
|
NM_025219.3(DNAJC5):c.*3413A>G
|
rs150408300
|
0.00071
|
NM_025219.3(DNAJC5):c.45A>G (p.Ser15=)
|
rs144141585
|
0.00066
|
NM_025219.3(DNAJC5):c.*3480G>C
|
rs577249426
|
0.00060
|
NM_000391.3(TPP1):c.-40T>C
|
rs200184958
|
0.00053
|
NM_025219.3(DNAJC5):c.*1630C>T
|
rs527390994
|
0.00050
|
NM_000391.4(TPP1):c.*314del
|
rs202155605
|
0.00041
|
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)
|
rs137852700
|
0.00038
|
NM_025219.3(DNAJC5):c.*4129G>C
|
rs191412647
|
0.00034
|
NM_025219.3(DNAJC5):c.*4131C>T
|
rs146360147
|
0.00032
|
NM_025219.3(DNAJC5):c.*4387C>G
|
rs550273913
|
0.00023
|
NM_025219.3(DNAJC5):c.-160G>C
|
rs886056930
|
0.00021
|
NM_001371596.2(MFSD8):c.*2386del
|
rs143272176
|
0.00020
|
NM_025219.3(DNAJC5):c.*3432G>A
|
rs1051821
|
0.00016
|
NM_000310.4(PPT1):c.*998G>C
|
rs909689539
|
0.00015
|
NM_025219.3(DNAJC5):c.*1182C>T
|
rs753503517
|
0.00015
|
NM_025219.3(DNAJC5):c.*3116T>A
|
rs886056949
|
0.00014
|
NM_025219.3(DNAJC5):c.*3375C>T
|
rs886056951
|
0.00013
|
NM_025219.2(DNAJC5):c.*4455C>T
|
rs74554553
|
0.00011
|
NM_025219.3(DNAJC5):c.*2933C>T
|
rs886056946
|
0.00010
|
NM_025219.3(DNAJC5):c.*1557T>G
|
rs542172964
|
0.00008
|
NM_025219.3(DNAJC5):c.*322G>A
|
rs143646564
|
0.00008
|
NM_025219.3(DNAJC5):c.*728G>A
|
rs150670642
|
0.00008
|
NM_025219.3(DNAJC5):c.-186C>T
|
rs886056927
|
0.00007
|
NM_000391.4(TPP1):c.*1412T>G
|
rs886048535
|
0.00006
|
NM_025219.3(DNAJC5):c.*1079T>C
|
rs370539010
|
0.00006
|
NM_025219.3(DNAJC5):c.*276C>T
|
rs764108980
|
0.00006
|
NM_025219.3(DNAJC5):c.-95G>C
|
rs886056932
|
0.00006
|
NM_000310.4(PPT1):c.*812C>T
|
rs761216672
|
0.00005
|
NM_025219.3(DNAJC5):c.*1643T>C
|
rs142546412
|
0.00005
|
NM_025219.3(DNAJC5):c.*1304G>A
|
rs865818369
|
0.00004
|
NM_025219.3(DNAJC5):c.*2993C>T
|
rs886056947
|
0.00004
|
NM_025219.3(DNAJC5):c.108-3C>T
|
rs541118679
|
0.00004
|
NM_025219.3(DNAJC5):c.*1391G>A
|
rs886056944
|
0.00003
|
NM_025219.3(DNAJC5):c.*3257C>T
|
rs754263293
|
0.00003
|
NM_025219.3(DNAJC5):c.-185G>T
|
rs886056928
|
0.00003
|
NM_017882.3(CLN6):c.*140_*143del
|
rs754855292
|
0.00002
|
NM_025219.3(DNAJC5):c.*286G>A
|
rs886056940
|
0.00002
|
NM_025219.3(DNAJC5):c.*3870G>A
|
rs886056953
|
0.00002
|
NM_025219.3(DNAJC5):c.444C>T (p.Phe148=)
|
rs772254851
|
0.00002
|
NM_000310.4(PPT1):c.*474T>C
|
rs1057515555
|
0.00001
|
NM_000391.4(TPP1):c.*1715T>C
|
rs886048533
|
0.00001
|
NM_000391.4(TPP1):c.*668C>A
|
rs886048539
|
0.00001
|
NM_017882.3(CLN6):c.*132C>T
|
rs886051445
|
0.00001
|
NM_025219.3(DNAJC5):c.*1137A>G
|
rs886056943
|
0.00001
|
NM_025219.3(DNAJC5):c.*1604C>T
|
rs554749952
|
0.00001
|
NM_025219.3(DNAJC5):c.*2545C>G
|
rs577579444
|
0.00001
|
NM_025219.3(DNAJC5):c.*4057C>T
|
rs886056954
|
0.00001
|
NM_025219.3(DNAJC5):c.*686C>T
|
rs886056942
|
0.00001
|
NM_025219.3(DNAJC5):c.*80A>G
|
rs886056936
|
0.00001
|
NM_025219.3(DNAJC5):c.-33G>A
|
rs886056934
|
0.00001
|
NM_025219.3(DNAJC5):c.122A>G (p.Lys41Arg)
|
rs528096976
|
0.00001
|
NM_000310.4(PPT1):c.*1286AAG[1]
|
rs111872097
|
|
NM_000310.4(PPT1):c.*1300dup
|
rs1057515553
|
|
NM_000391.3(TPP1):c.-33C>G
|
rs757508432
|
|
NM_000391.4(TPP1):c.*1216dup
|
rs575737269
|
|
NM_000391.4(TPP1):c.887-5del
|
rs886048540
|
|
NM_000391.4(TPP1):c.887-6_887-5del
|
rs886048541
|
|
NM_000391.4(TPP1):c.887-6del
|
rs35039601
|
|
NM_000391.4(TPP1):c.887-7_887-6del
|
rs35039601
|
|
NM_001371596.2(MFSD8):c.*469dup
|
rs746048384
|
|
NM_001371596.2(MFSD8):c.1516C>G (p.Leu506Val)
|
rs570757797
|
|
NM_017882.2(CLN6):c.-178_-169delTCCGCTCCGC
|
rs55672378
|
|
NM_017882.3(CLN6):c.*141GT[11]
|
rs3837692
|
|
NM_017882.3(CLN6):c.*141GT[12]
|
rs3837692
|
|
NM_017882.3(CLN6):c.*141GT[13]
|
rs3837692
|
|
NM_017882.3(CLN6):c.*141GT[8]
|
rs3837692
|
|
NM_017882.3(CLN6):c.349ATC[2] (p.Ile119del)
|
rs886051447
|
|
NM_025219.2(DNAJC5):c.*4454G>A
|
rs886056956
|
|
NM_025219.3(DNAJC5):c.*135C>T
|
rs886056937
|
|
NM_025219.3(DNAJC5):c.*1391G>C
|
rs886056944
|
|
NM_025219.3(DNAJC5):c.*1895C>G
|
rs886056945
|
|
NM_025219.3(DNAJC5):c.*2191G>C
|
rs550048168
|
|
NM_025219.3(DNAJC5):c.*243G>A
|
rs886056938
|
|
NM_025219.3(DNAJC5):c.*2723A>G
|
rs76769576
|
|
NM_025219.3(DNAJC5):c.*273C>G
|
rs886056939
|
|
NM_025219.3(DNAJC5):c.*2765_*2770del
|
rs375427318
|
|
NM_025219.3(DNAJC5):c.*2913G>A
|
rs539536316
|
|
NM_025219.3(DNAJC5):c.*3009G>A
|
rs886056948
|
|
NM_025219.3(DNAJC5):c.*3239C>T
|
rs886056950
|
|
NM_025219.3(DNAJC5):c.*3252G>A
|
rs545688443
|
|
NM_025219.3(DNAJC5):c.*3502_*3505del
|
rs886056952
|
|
NM_025219.3(DNAJC5):c.*4070C>G
|
rs3810500
|
|
NM_025219.3(DNAJC5):c.*4070C>T
|
rs3810500
|
|
NM_025219.3(DNAJC5):c.*412C>T
|
rs886056941
|
|
NM_025219.3(DNAJC5):c.*4253C>G
|
rs886056955
|
|
NM_025219.3(DNAJC5):c.*727C>A
|
rs75130625
|
|
NM_025219.3(DNAJC5):c.*727C>G
|
rs75130625
|
|
NM_025219.3(DNAJC5):c.*853C>G
|
rs6011230
|
|
NM_025219.3(DNAJC5):c.*853C>T
|
rs6011230
|
|
NM_025219.3(DNAJC5):c.-140GCC[8]
|
rs531246320
|
|
NM_025219.3(DNAJC5):c.-140GCC[9]
|
rs531246320
|
|
NM_025219.3(DNAJC5):c.-160_-155dup
|
rs886056929
|
|
NM_025219.3(DNAJC5):c.-184CTGCCG[5]
|
rs563818595
|
|
NM_025219.3(DNAJC5):c.-194C>T
|
rs886056925
|
|
NM_025219.3(DNAJC5):c.-89C>G
|
rs886056933
|
|
NM_025219.3(DNAJC5):c.438G>A (p.Thr146=)
|
rs746222594
|
|
NM_025219.3(DNAJC5):c.504C>T (p.Asp168=)
|
rs886056935
|
|