NM_017882.3(CLN6):c.486+8C>T
|
rs149692285
|
0.01339
|
NM_003793.4(CTSF):c.692A>G (p.Tyr231Cys)
|
rs143889283
|
0.00008
|
NM_001909.5(CTSD):c.685T>A (p.Phe229Ile)
|
rs121912789
|
0.00006
|
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu)
|
rs587779409
|
0.00004
|
NM_017882.3(CLN6):c.755G>A (p.Arg252His)
|
rs374681194
|
0.00004
|
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)
|
rs587779408
|
0.00003
|
NM_003793.4(CTSF):c.954del (p.Ser319fs)
|
rs753084727
|
0.00003
|
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)
|
rs764571295
|
0.00003
|
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln)
|
rs154774634
|
0.00002
|
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser)
|
rs150363441
|
0.00002
|
NM_002087.4(GRN):c.1010_1011del (p.Gln337fs)
|
rs1598364961
|
0.00001
|
NM_002087.4(GRN):c.1145del (p.Thr382fs)
|
rs63750805
|
0.00001
|
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter)
|
rs63751294
|
0.00001
|
NM_002087.4(GRN):c.2T>C (p.Met1Thr)
|
rs63751006
|
0.00001
|
NM_002087.4(GRN):c.708+1G>A
|
rs63749817
|
0.00001
|
NM_017882.3(CLN6):c.296A>G (p.Lys99Arg)
|
rs146782642
|
0.00001
|
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp)
|
rs201095412
|
0.00001
|
NM_017882.3(CLN6):c.350T>G (p.Ile117Ser)
|
rs752212030
|
0.00001
|
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys)
|
rs746753722
|
0.00001
|
NM_017882.3(CLN6):c.83G>A (p.Arg28Lys)
|
rs1381427322
|
0.00001
|
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu)
|
rs758921701
|
0.00001
|
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg)
|
rs750937323
|
0.00001
|
NC_000015.9:g.68504037_68504039delGAT
|
rs121908080
|
|
NC_000017.10:g.(?_42426434)_(42430018_?)del
|
|
|
NM_001909.4:c.486-12G>A
|
|
|
NM_001909.5(CTSD):c.1149G>C (p.Trp383Cys)
|
rs121912790
|
|
NM_001909.5(CTSD):c.1196G>A (p.Arg399His)
|
rs797045138
|
|
NM_001909.5(CTSD):c.17_30dup (p.Leu11fs)
|
rs2133668728
|
|
NM_001909.5(CTSD):c.446G>T (p.Gly149Val)
|
rs797045137
|
|
NM_001909.5(CTSD):c.764dup (p.Tyr255Ter)
|
rs786205105
|
|
NM_002087.3(GRN):c.1144dup (p.Thr382Asnfs)
|
rs63749905
|
|
NM_002087.4(GRN):c.102del (p.Gly35fs)
|
rs63751073
|
|
NM_002087.4(GRN):c.1072C>T (p.Gln358Ter)
|
rs1555611293
|
|
NM_002087.4(GRN):c.1153del (p.Glu385fs)
|
rs2143342203
|
|
NM_002087.4(GRN):c.1158G>A (p.Trp386Ter)
|
|
|
NM_002087.4(GRN):c.1179+3A>G
|
|
|
NM_002087.4(GRN):c.118_121dup (p.Cys41Ter)
|
|
|
NM_002087.4(GRN):c.1216C>T (p.Gln406Ter)
|
rs2143344360
|
|
NM_002087.4(GRN):c.1227del (p.Cys410fs)
|
|
|
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter)
|
rs63751180
|
|
NM_002087.4(GRN):c.128_129insCC (p.Pro44fs)
|
|
|
NM_002087.4(GRN):c.1317_1318del (p.Asp441fs)
|
|
|
NM_002087.4(GRN):c.138+1G>A
|
rs63749844
|
|
NM_002087.4(GRN):c.1414-2A>G
|
rs1555611412
|
|
NM_002087.4(GRN):c.1492_1495del (p.Glu498fs)
|
|
|
NM_002087.4(GRN):c.180dup (p.Cys61fs)
|
|
|
NM_002087.4(GRN):c.1A>G (p.Met1Val)
|
rs746037872
|
|
NM_002087.4(GRN):c.234_235del (p.Gly79fs)
|
rs63750373
|
|
NM_002087.4(GRN):c.264+1del
|
|
|
NM_002087.4(GRN):c.265-2del
|
|
|
NM_002087.4(GRN):c.26C>A (p.Ala9Asp)
|
rs63751243
|
|
NM_002087.4(GRN):c.295_308del (p.Cys99fs)
|
|
|
NM_002087.4(GRN):c.299del (p.Pro100fs)
|
rs2048353899
|
|
NM_002087.4(GRN):c.328C>T (p.Arg110Ter)
|
rs63750411
|
|
NM_002087.4(GRN):c.349+1G>C
|
rs1598363083
|
|
NM_002087.4(GRN):c.383_386del (p.Asp128fs)
|
rs2048359069
|
|
NM_002087.4(GRN):c.388C>T (p.Gln130Ter)
|
|
|
NM_002087.4(GRN):c.388_391del (p.Gln130fs)
|
rs63749801
|
|
NM_002087.4(GRN):c.39dup (p.Leu14fs)
|
rs2143325096
|
|
NM_002087.4(GRN):c.468_474del (p.Cys157fs)
|
rs63750247
|
|
NM_002087.4(GRN):c.472_496dup (p.Pro166delinsLeuTer)
|
|
|
NM_002087.4(GRN):c.592_593del (p.Arg198fs)
|
rs1555611136
|
|
NM_002087.4(GRN):c.5G>A (p.Trp2Ter)
|
|
|
NM_002087.4(GRN):c.614C>A (p.Ser205Ter)
|
rs777211749
|
|
NM_002087.4(GRN):c.675_676del (p.Ser226fs)
|
rs63751085
|
|
NM_002087.4(GRN):c.708+1G>C
|
rs63749817
|
|
NM_002087.4(GRN):c.708+6_708+9del
|
rs778599933
|
|
NM_002087.4(GRN):c.709-2A>G
|
rs63750548
|
|
NM_002087.4(GRN):c.711del (p.Thr238fs)
|
|
|
NM_002087.4(GRN):c.768_769dup (p.Gln257fs)
|
rs1567887004
|
|
NM_002087.4(GRN):c.775_778del (p.Lys259fs)
|
rs2143337849
|
|
NM_002087.4(GRN):c.784_787del (p.Ser262fs)
|
|
|
NM_002087.4(GRN):c.80dup (p.Val28fs)
|
rs1392550887
|
|
NM_002087.4(GRN):c.813_816del (p.Thr272fs)
|
rs63749877
|
|
NM_002087.4(GRN):c.836-1G>C
|
rs63751296
|
|
NM_002087.4(GRN):c.87dup (p.Cys30fs)
|
rs794729672
|
|
NM_002087.4(GRN):c.898C>T (p.Gln300Ter)
|
rs1555611253
|
|
NM_002087.4(GRN):c.910_911dup (p.Trp304fs)
|
|
|
NM_002087.4(GRN):c.911G>A (p.Trp304Ter)
|
rs63751177
|
|
NM_002087.4(GRN):c.991C>T (p.Gln331Ter)
|
rs1567887496
|
|
NM_003793.4(CTSF):c.1247T>C (p.Ile416Thr)
|
rs1565311875
|
|
NM_003793.4(CTSF):c.1373G>C (p.Gly458Ala)
|
rs397514732
|
|
NM_003793.4(CTSF):c.1439C>T (p.Ser480Leu)
|
rs397514733
|
|
NM_003793.4(CTSF):c.213+1G>C
|
rs797045136
|
|
NM_003793.4(CTSF):c.594T>A (p.Tyr198Ter)
|
rs758004789
|
|
NM_003793.4(CTSF):c.664C>T (p.Gln222Ter)
|
|
|
NM_003793.4(CTSF):c.843_844del (p.Ala282fs)
|
rs1555058286
|
|
NM_003793.4(CTSF):c.962A>G (p.Gln321Arg)
|
rs397514731
|
|
NM_003793.4(CTSF):c.992del (p.Lys331fs)
|
|
|
NM_017882.2(CLN6):c.[460_462delATC];[829_837delGTCGCCTGG]
|
|
|
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe)
|
rs154774635
|
|
NM_017882.3(CLN6):c.17G>C (p.Arg6Thr)
|
rs154774636
|
|
NM_017882.3(CLN6):c.185G>A (p.Arg62His)
|
rs751486476
|
|
NM_017882.3(CLN6):c.200T>C (p.Leu67Pro)
|
rs154774633
|
|
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter)
|
rs104894483
|
|
NM_017882.3(CLN6):c.218_220dup (p.Trp73dup)
|
rs2141141533
|
|
NM_017882.3(CLN6):c.250T>A (p.Tyr84Asn)
|
rs1567096598
|
|
NM_017882.3(CLN6):c.268_271dup (p.Val91fs)
|
rs786205067
|
|
NM_017882.3(CLN6):c.278C>A (p.Thr93Lys)
|
|
|
NM_017882.3(CLN6):c.316dup (p.Arg106fs)
|
rs397515352
|
|
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp)
|
rs104894484
|
|
NM_017882.3(CLN6):c.395_396del (p.Ser132fs)
|
rs774543080
|
|
NM_017882.3(CLN6):c.406C>T (p.Arg136Cys)
|
rs1012449574
|
|
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu)
|
rs919850756
|
|
NM_017882.3(CLN6):c.511TAT[1] (p.Tyr172del)
|
rs121908079
|
|
NM_017882.3(CLN6):c.542+5G>T
|
rs786205066
|
|
NM_017882.3(CLN6):c.552dup (p.Phe185fs)
|
rs1567095153
|
|
NM_017882.3(CLN6):c.663C>G (p.Tyr221Ter)
|
rs104894486
|
|
NM_017882.3(CLN6):c.723G>T (p.Met241Ile)
|
rs149262877
|
|
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)
|
rs768422260
|
|
NM_017882.3(CLN6):c.7del (p.Ala3fs)
|
rs786205065
|
|
NM_025219.3(DNAJC5):c.343CTC[1] (p.Leu116del)
|
rs587776892
|
|
NM_025219.3(DNAJC5):c.344T>G (p.Leu115Arg)
|
rs387907043
|
|
NM_025219.3(DNAJC5):c.347T>G (p.Leu116Arg)
|
rs2146308296
|
|
NM_025219.3(DNAJC5):c.370_399dup (p.Cys124_Cys133dup)
|
rs1600887859
|
|