NM_017882.3(CLN6):c.445C>T (p.Arg149Cys)
|
rs747229909
|
0.00006
|
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.308G>A (p.Arg103Gln)
|
rs154774634
|
0.00002
|
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser)
|
rs150363441
|
0.00002
|
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys)
|
rs1451777867
|
0.00001
|
NM_017882.3(CLN6):c.199-2A>G
|
rs1471253353
|
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.486+1G>A
|
rs756522171
|
0.00001
|
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys)
|
rs746753722
|
0.00001
|
NM_017882.3(CLN6):c.767A>G (p.Asp256Gly)
|
rs143781303
|
0.00001
|
NM_017882.3(CLN6):c.837G>A (p.Trp279Ter)
|
rs1555438212
|
0.00001
|
NM_017882.3(CLN6):c.84-1G>A
|
rs1064796787
|
0.00001
|
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu)
|
rs758921701
|
0.00001
|
NC_000015.9:g.(?_68500458)_(68504221_?)del
|
|
|
NC_000015.9:g.(?_68500468)_(68504211_?)del
|
|
|
NC_000015.9:g.68504037_68504039delGAT
|
rs121908080
|
|
NM_017882.3(CLN6):c.171del (p.Leu58fs)
|
|
|
NM_017882.3(CLN6):c.185G>A (p.Arg62His)
|
rs751486476
|
|
NM_017882.3(CLN6):c.195dup (p.Met66fs)
|
|
|
NM_017882.3(CLN6):c.199-1G>A
|
|
|
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.297+1G>A
|
rs796052351
|
|
NM_017882.3(CLN6):c.297G>T (p.Lys99Asn)
|
|
|
NM_017882.3(CLN6):c.298-1G>C
|
rs1595818391
|
|
NM_017882.3(CLN6):c.311C>T (p.Ser104Phe)
|
rs777921628
|
|
NM_017882.3(CLN6):c.322del (p.Leu108fs)
|
|
|
NM_017882.3(CLN6):c.358_366del (p.Phe120_Met122del)
|
rs1401381423
|
|
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp)
|
rs104894484
|
|
NM_017882.3(CLN6):c.377_378delinsG (p.Ile126fs)
|
|
|
NM_017882.3(CLN6):c.385dup (p.Val129fs)
|
|
|
NM_017882.3(CLN6):c.3G>A (p.Met1Ile)
|
rs2093262869
|
|
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.437T>C (p.Leu146Pro)
|
rs1595818249
|
|
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu)
|
rs919850756
|
|
NM_017882.3(CLN6):c.486+1G>C
|
rs756522171
|
|
NM_017882.3(CLN6):c.487-1G>T
|
|
|
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.542+2T>C
|
|
|
NM_017882.3(CLN6):c.543-1G>A
|
|
|
NM_017882.3(CLN6):c.543-2A>G
|
rs2141137336
|
|
NM_017882.3(CLN6):c.543G>A (p.Trp181Ter)
|
rs1555438443
|
|
NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys)
|
rs764571295
|
|
NM_017882.3(CLN6):c.665+1G>A
|
rs796052356
|
|
NM_017882.3(CLN6):c.665+1G>T
|
rs796052356
|
|
NM_017882.3(CLN6):c.665G>A (p.Trp222Ter)
|
rs1555438411
|
|
NM_017882.3(CLN6):c.712_713delinsAC (p.Phe238Thr)
|
rs2141136108
|
|
NM_017882.3(CLN6):c.721A>G (p.Met241Val)
|
rs753994750
|
|
NM_017882.3(CLN6):c.722T>C (p.Met241Thr)
|
rs1555438255
|
|
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.814C>G (p.Leu272Val)
|
|
|
NM_017882.3(CLN6):c.827G>A (p.Trp276Ter)
|
|
|
NM_017882.3(CLN6):c.829_832del (p.Val277fs)
|
rs1595816474
|
|
NM_017882.3(CLN6):c.83+2T>G
|
rs1555440188
|
|
NM_017882.3(CLN6):c.843G>A (p.Trp281Ter)
|
|
|
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
|
|
NM_017882.3(CLN6):c.934T>C (p.Ter312Arg)
|
|
|
NM_017882.3(CLN6):c.95_96del (p.Val32fs)
|
|
|