NM_017882.3(CLN6):c.198+104T>C
|
rs8025947
|
0.57324
|
NM_017882.3(CLN6):c.486+8C>T
|
rs149692285
|
0.01298
|
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)
|
rs112239768
|
0.01081
|
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly)
|
rs3743088
|
0.00052
|
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser)
|
rs763944821
|
0.00013
|
NM_017882.3(CLN6):c.486+1G>A
|
rs756522171
|
0.00008
|
NM_017882.3(CLN6):c.728C>T (p.Ala243Val)
|
rs767164948
|
0.00006
|
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu)
|
rs587780316
|
0.00004
|
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)
|
rs587779408
|
0.00003
|
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp)
|
rs886285802
|
0.00003
|
NM_017882.3(CLN6):c.446G>A (p.Arg149His)
|
rs154774638
|
0.00003
|
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)
|
rs764571295
|
0.00003
|
NM_017882.3(CLN6):c.755G>A (p.Arg252His)
|
rs374681194
|
0.00003
|
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter)
|
rs154774640
|
0.00002
|
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp)
|
rs201095412
|
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.296A>G (p.Lys99Arg)
|
rs146782642
|
0.00001
|
NM_017882.3(CLN6):c.297+113G>C
|
rs553192210
|
0.00001
|
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys)
|
rs796052352
|
0.00001
|
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln)
|
rs154774634
|
0.00001
|
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp)
|
rs104894484
|
0.00001
|
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys)
|
rs746753722
|
0.00001
|
NM_017882.3(CLN6):c.768C>G (p.Asp256Glu)
|
rs760271120
|
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
|
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg)
|
rs750937323
|
0.00001
|
NC_000015.9:g.68504037_68504039delGAT
|
rs121908080
|
|
NM_017882.2(CLN6):c.[460_462delATC];[829_837delGTCGCCTGG]
|
|
|
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe)
|
rs154774635
|
|
NM_017882.3(CLN6):c.158T>G (p.Leu53Arg)
|
rs780955024
|
|
NM_017882.3(CLN6):c.185G>A (p.Arg62His)
|
rs751486476
|
|
NM_017882.3(CLN6):c.1A>G (p.Met1Val)
|
rs1555440206
|
|
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)
|
rs150001589
|
|
NM_017882.3(CLN6):c.297G>T (p.Lys99Asn)
|
rs1275614219
|
|
NM_017882.3(CLN6):c.311C>T (p.Ser104Phe)
|
rs777921628
|
|
NM_017882.3(CLN6):c.316dup (p.Arg106fs)
|
rs397515352
|
|
NM_017882.3(CLN6):c.349ATC[2] (p.Ile119del)
|
rs886051447
|
|
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly)
|
rs772893554
|
|
NM_017882.3(CLN6):c.395_396del (p.Ser132fs)
|
rs774543080
|
|
NM_017882.3(CLN6):c.437T>C (p.Leu146Pro)
|
rs1595818249
|
|
NM_017882.3(CLN6):c.443T>A (p.Val148Asp)
|
rs1555438678
|
|
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu)
|
rs919850756
|
|
NM_017882.3(CLN6):c.498dup (p.Glu167Ter)
|
rs762902907
|
|
NM_017882.3(CLN6):c.506T>C (p.Leu169Pro)
|
rs1344658850
|
|
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys)
|
rs750081097
|
|
NM_017882.3(CLN6):c.511TAT[1] (p.Tyr172del)
|
rs121908079
|
|
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+5G>T
|
rs786205066
|
|
NM_017882.3(CLN6):c.543G>A (p.Trp181Ter)
|
rs1555438443
|
|
NM_017882.3(CLN6):c.552dup (p.Phe185fs)
|
rs1567095153
|
|
NM_017882.3(CLN6):c.587G>T (p.Cys196Phe)
|
rs2093199089
|
|
NM_017882.3(CLN6):c.624_625dup (p.Pro209fs)
|
|
|
NM_017882.3(CLN6):c.659A>C (p.Tyr220Ser)
|
rs2093198812
|
|
NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys)
|
rs764571295
|
|
NM_017882.3(CLN6):c.663C>G (p.Tyr221Ter)
|
rs104894486
|
|
NM_017882.3(CLN6):c.665G>A (p.Trp222Ter)
|
rs1555438411
|
|
NM_017882.3(CLN6):c.702C>A (p.Phe234Leu)
|
rs1555438267
|
|
NM_017882.3(CLN6):c.723G>T (p.Met241Ile)
|
rs149262877
|
|
NM_017882.3(CLN6):c.766_770del (p.Asp256fs)
|
rs1555438234
|
|
NM_017882.3(CLN6):c.775G>C (p.Gly259Arg)
|
rs150363441
|
|
NM_017882.3(CLN6):c.775G>T (p.Gly259Cys)
|
rs150363441
|
|
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.7del (p.Ala3fs)
|
rs786205065
|
|
NM_017882.3(CLN6):c.83+2T>G
|
rs1555440188
|
|
NM_017882.3(CLN6):c.83G>A (p.Arg28Lys)
|
rs1381427322
|
|
NM_017882.3(CLN6):c.843G>A (p.Trp281Ter)
|
rs2505401316
|
|
NM_017882.3(CLN6):c.883T>C (p.Tyr295His)
|
rs2505401169
|
|
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.909C>A (p.Tyr303Ter)
|
rs1448520404
|
|
NM_017882.3(CLN6):c.934T>C (p.Ter312Arg)
|
rs2505400971
|
|