NM_003793.4(CTSF):c.1046-2A>C
|
rs141915593
|
0.00025
|
NM_017882.3(CLN6):c.338C>T (p.Thr113Met)
|
rs758830997
|
0.00003
|
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)
|
rs764571295
|
0.00003
|
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter)
|
rs154774640
|
0.00002
|
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser)
|
rs150363441
|
0.00002
|
NM_003793.4(CTSF):c.1045+1G>T
|
rs1456291681
|
0.00001
|
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys)
|
rs1451777867
|
0.00001
|
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp)
|
rs201095412
|
0.00001
|
NM_017882.3(CLN6):c.486+1G>A
|
rs756522171
|
0.00001
|
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys)
|
rs746753722
|
0.00001
|
NM_017882.3(CLN6):c.837G>A (p.Trp279Ter)
|
rs1555438212
|
0.00001
|
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu)
|
rs758921701
|
0.00001
|
NC_000015.9:g.68504037_68504039delGAT
|
rs121908080
|
|
NM_001909.5(CTSD):c.683TCT[1] (p.Phe229del)
|
rs1057519591
|
|
NM_002087.4(GRN):c.1179+1G>C
|
|
|
NM_002087.4(GRN):c.1414-15_1591del
|
|
|
NM_002087.4(GRN):c.264+1G>A
|
rs1567885728
|
|
NM_002087.4(GRN):c.265-2A>T
|
|
|
NM_002087.4(GRN):c.599-1G>A
|
rs1555611154
|
|
NM_002087.4(GRN):c.835+1G>A
|
rs606231221
|
|
NM_002087.4(GRN):c.933+1G>A
|
rs63750707
|
|
NM_002087.4(GRN):c.934-11_936del
|
|
|
NM_002087.4(GRN):c.934-1G>A
|
rs2143340416
|
|
NM_003793.4(CTSF):c.530_531+11del
|
rs2134954887
|
|
NM_003793.4(CTSF):c.965-1G>A
|
|
|
NM_017882.3(CLN6):c.185G>A (p.Arg62His)
|
rs751486476
|
|
NM_017882.3(CLN6):c.195dup (p.Met66fs)
|
|
|
NM_017882.3(CLN6):c.1A>G (p.Met1Val)
|
rs1555440206
|
|
NM_017882.3(CLN6):c.218G>A (p.Trp73Ter)
|
rs2093214695
|
|
NM_017882.3(CLN6):c.297G>T (p.Lys99Asn)
|
|
|
NM_017882.3(CLN6):c.311C>T (p.Ser104Phe)
|
rs777921628
|
|
NM_017882.3(CLN6):c.322del (p.Leu108fs)
|
|
|
NM_017882.3(CLN6):c.377_378delinsG (p.Ile126fs)
|
|
|
NM_017882.3(CLN6):c.385dup (p.Val129fs)
|
|
|
NM_017882.3(CLN6):c.425A>G (p.Tyr142Cys)
|
rs1227254537
|
|
NM_017882.3(CLN6):c.427C>T (p.Gln143Ter)
|
rs2093205953
|
|
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu)
|
rs919850756
|
|
NM_017882.3(CLN6):c.498dup (p.Glu167Ter)
|
rs762902907
|
|
NM_017882.3(CLN6):c.499G>T (p.Glu167Ter)
|
rs2093204342
|
|
NM_017882.3(CLN6):c.506T>A (p.Leu169His)
|
rs1344658850
|
|
NM_017882.3(CLN6):c.514T>C (p.Tyr172His)
|
rs2141138753
|
|
NM_017882.3(CLN6):c.542+1G>T
|
rs1555438614
|
|
NM_017882.3(CLN6):c.543G>A (p.Trp181Ter)
|
rs1555438443
|
|
NM_017882.3(CLN6):c.665G>A (p.Trp222Ter)
|
rs1555438411
|
|
NM_017882.3(CLN6):c.766_770del (p.Asp256fs)
|
rs1555438234
|
|
NM_017882.3(CLN6):c.786_787dup (p.Phe263fs)
|
rs1555438229
|
|
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)
|
rs768422260
|
|
NM_017882.3(CLN6):c.83+2T>G
|
rs1555440188
|
|
NM_017882.3(CLN6):c.884A>G (p.Tyr295Cys)
|
rs2141135900
|
|
NM_017882.3(CLN6):c.890del (p.Pro297fs)
|
rs154774639
|
|
NM_017882.3(CLN6):c.896C>A (p.Pro299His)
|
rs758921701
|
|