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_003793.4(CTSF):c.954del (p.Ser319fs)
|
rs753084727
|
0.00003
|
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln)
|
rs154774634
|
0.00002
|
NM_017882.3(CLN6):c.296A>G (p.Lys99Arg)
|
rs146782642
|
0.00001
|
NM_017882.3(CLN6):c.350T>G (p.Ile117Ser)
|
rs752212030
|
0.00001
|
NC_000015.9:g.68504037_68504039delGAT
|
rs121908080
|
|
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.446G>T (p.Gly149Val)
|
rs797045137
|
|
NM_001909.5(CTSD):c.764dup (p.Tyr255Ter)
|
rs786205105
|
|
NM_002087.4(GRN):c.813_816del (p.Thr272fs)
|
rs63749877
|
|
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.962A>G (p.Gln321Arg)
|
rs397514731
|
|
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.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.268_271dup (p.Val91fs)
|
rs786205067
|
|
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.511TAT[1] (p.Tyr172del)
|
rs121908079
|
|
NM_017882.3(CLN6):c.542+5G>T
|
rs786205066
|
|
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.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.370_399dup (p.Cys124_Cys133dup)
|
rs1600887859
|
|