NM_006493.4(CLN5):c.-146T>C
|
rs201615354
|
0.00104
|
NM_006493.4(CLN5):c.459G>A (p.Met153Ile)
|
rs144656959
|
0.00058
|
NM_006493.4(CLN5):c.265G>A (p.Asp89Asn)
|
rs138110438
|
0.00034
|
NM_006493.4(CLN5):c.1045C>T (p.Pro349Ser)
|
rs41287036
|
0.00026
|
NM_006493.4(CLN5):c.656A>C (p.Glu219Ala)
|
rs11842935
|
0.00021
|
NM_006493.4(CLN5):c.565+3_565+4dup
|
rs745312608
|
0.00019
|
NM_006493.4(CLN5):c.19A>G (p.Thr7Ala)
|
rs541501705
|
0.00015
|
NM_006493.4(CLN5):c.-83G>T
|
rs576642281
|
0.00009
|
NM_006493.4(CLN5):c.1019A>C (p.Lys340Thr)
|
rs745767054
|
0.00009
|
NM_006493.4(CLN5):c.812A>G (p.Asn271Ser)
|
rs199609750
|
0.00009
|
NM_006493.2(CLN5):c.52C>T (p.Gln18Ter)
|
rs773979248
|
0.00008
|
NM_006493.4(CLN5):c.-47C>G
|
rs937545860
|
0.00008
|
NM_006493.4(CLN5):c.569A>G (p.Asn190Ser)
|
rs369100769
|
0.00007
|
NM_006493.4(CLN5):c.1048A>G (p.Ile350Val)
|
rs762333226
|
0.00006
|
NM_006493.4(CLN5):c.662G>A (p.Gly221Glu)
|
rs368428437
|
0.00006
|
NM_006493.4(CLN5):c.-21G>A
|
rs529998879
|
0.00005
|
NM_006493.4(CLN5):c.1A>T (p.Met1Leu)
|
rs371624826
|
0.00004
|
NM_006493.4(CLN5):c.486C>T (p.Gly162=)
|
rs769007858
|
0.00004
|
NM_006493.2(CLN5):c.116C>G (p.Ser39Trp)
|
rs61504484
|
0.00003
|
NM_006493.2(CLN5):c.22G>C (p.Gly8Arg)
|
rs762873839
|
0.00003
|
NM_006493.4(CLN5):c.-123C>T
|
rs767048749
|
0.00003
|
NM_006493.4(CLN5):c.-141C>T
|
rs759859373
|
0.00003
|
NM_006493.4(CLN5):c.-14C>T
|
rs768714949
|
0.00003
|
NM_006493.4(CLN5):c.-78G>T
|
rs540811599
|
0.00003
|
NM_006493.4(CLN5):c.176G>A (p.Arg59His)
|
rs753197537
|
0.00003
|
NM_006493.4(CLN5):c.304T>G (p.Trp102Gly)
|
rs1048147140
|
0.00003
|
NM_006493.4(CLN5):c.371G>A (p.Ser124Asn)
|
rs369122820
|
0.00003
|
NM_006493.4(CLN5):c.420A>G (p.Gln140=)
|
rs753732321
|
0.00003
|
NM_006493.4(CLN5):c.572T>C (p.Met191Thr)
|
rs771119692
|
0.00003
|
NM_006493.4(CLN5):c.869G>T (p.Arg290Ile)
|
rs770688728
|
0.00003
|
NM_006493.4(CLN5):c.960G>C (p.Gln320His)
|
rs1455002686
|
0.00003
|
NM_006493.4(CLN5):c.-84C>A
|
rs558597827
|
0.00002
|
NM_006493.4(CLN5):c.339+5G>C
|
rs202146713
|
0.00002
|
NM_006493.4(CLN5):c.339+6G>A
|
rs1468101
|
0.00002
|
NM_006493.4(CLN5):c.526A>G (p.Lys176Glu)
|
rs142870036
|
0.00002
|
NM_006493.4(CLN5):c.892C>T (p.His298Tyr)
|
rs557876713
|
0.00002
|
NM_006493.4(CLN5):c.947T>C (p.Ile316Thr)
|
rs182060681
|
0.00002
|
NC_000013.11:g.76992031C>A
|
rs1168645936
|
0.00001
|
NM_006493.4(CLN5):c.-113G>T
|
rs1465531119
|
0.00001
|
NM_006493.4(CLN5):c.-11G>C
|
rs774598730
|
0.00001
|
NM_006493.4(CLN5):c.-74T>C
|
rs1182554801
|
0.00001
|
NM_006493.4(CLN5):c.-86C>T
|
rs988786332
|
0.00001
|
NM_006493.4(CLN5):c.13G>A (p.Val5Ile)
|
rs1064795659
|
0.00001
|
NM_006493.4(CLN5):c.17A>G (p.Asp6Gly)
|
rs759063887
|
0.00001
|
NM_006493.4(CLN5):c.247A>G (p.Ile83Val)
|
rs750283603
|
0.00001
|
NM_006493.4(CLN5):c.26A>G (p.Gln9Arg)
|
rs1230755416
|
0.00001
|
NM_006493.4(CLN5):c.296C>T (p.Ala99Val)
|
rs143759121
|
0.00001
|
NM_006493.4(CLN5):c.323A>C (p.Asp108Ala)
|
rs368672718
|
0.00001
|
NM_006493.4(CLN5):c.3G>A (p.Met1Ile)
|
rs1464891081
|
0.00001
|
NM_006493.4(CLN5):c.430T>C (p.Cys144Arg)
|
rs1593911055
|
0.00001
|
NM_006493.4(CLN5):c.467C>T (p.Pro156Leu)
|
rs780802058
|
0.00001
|
NM_006493.4(CLN5):c.490G>T (p.Ala164Ser)
|
rs748549252
|
0.00001
|
NM_006493.4(CLN5):c.505G>A (p.Gly169Arg)
|
rs1420822940
|
0.00001
|
NM_006493.4(CLN5):c.565+6T>C
|
rs758229107
|
0.00001
|
NM_006493.4(CLN5):c.637A>C (p.Asn213His)
|
rs140122775
|
0.00001
|
NM_006493.4(CLN5):c.639T>A (p.Asn213Lys)
|
rs1312706135
|
0.00001
|
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn)
|
rs28940280
|
0.00001
|
NM_006493.4(CLN5):c.692G>A (p.Cys231Tyr)
|
rs200419110
|
0.00001
|
NM_006493.4(CLN5):c.755T>C (p.Ile252Thr)
|
rs1439976492
|
0.00001
|
NM_006493.4(CLN5):c.764A>C (p.Asn255Thr)
|
rs929479143
|
0.00001
|
NM_006493.4(CLN5):c.773G>A (p.Arg258Lys)
|
rs376675270
|
0.00001
|
NM_006493.4(CLN5):c.784T>C (p.Tyr262His)
|
rs1262072010
|
0.00001
|
NM_006493.4(CLN5):c.904A>G (p.Lys302Glu)
|
rs1060502320
|
0.00001
|
NM_006493.4(CLN5):c.935T>C (p.Phe312Ser)
|
rs201767993
|
0.00001
|
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys)
|
rs148862100
|
0.00001
|
NC_000013.10:g.(?_77566087)_(77575104_?)dup
|
|
|
NC_000013.11:g.(?_76991932)_(77000989_?)dup
|
|
|
NC_000013.11:g.76991974G>C
|
rs1037355085
|
|
NC_000013.11:g.76991982T>C
|
rs755587208
|
|
NC_000013.11:g.76991986G>A
|
rs1465531119
|
|
NC_000013.11:g.76992025T>A
|
rs1182554801
|
|
NC_000013.11:g.76992027G>C
|
rs2154034205
|
|
NC_000013.11:g.76992036C>T
|
rs2154034208
|
|
NC_000013.11:g.76992041G>A
|
rs2154034210
|
|
NC_000013.11:g.76992063G>A
|
rs1351624850
|
|
NC_000013.11:g.76992066T>A
|
rs1223625391
|
|
NC_000013.11:g.76992066T>G
|
rs1223625391
|
|
NC_000013.11:g.76992067C>T
|
rs61504484
|
|
NM_006493.2(CLN5):c.101C>A (p.Pro34Gln)
|
|
|
NM_006493.2(CLN5):c.104C>T (p.Ala35Val)
|
|
|
NM_006493.2(CLN5):c.107C>A (p.Ser36Ter)
|
|
|
NM_006493.2(CLN5):c.107C>T (p.Ser36Leu)
|
|
|
NM_006493.2(CLN5):c.10A>T (p.Asn4Tyr)
|
rs1336864663
|
|
NM_006493.2(CLN5):c.10_22delAACCTGCGCTTGG (p.Asn4Glyfs)
|
|
|
NM_006493.2(CLN5):c.116C>A (p.Ser39Ter)
|
rs61504484
|
|
NM_006493.2(CLN5):c.16C>A (p.Arg6Ser)
|
|
|
NM_006493.2(CLN5):c.17G>T (p.Arg6Leu)
|
rs1391354551
|
|
NM_006493.2(CLN5):c.20T>C (p.Leu7Ser)
|
|
|
NM_006493.2(CLN5):c.25C>A (p.Pro9Thr)
|
|
|
NM_006493.2(CLN5):c.31T>A (p.Ser11Thr)
|
|
|
NM_006493.2(CLN5):c.31T>G (p.Ser11Ala)
|
|
|
NM_006493.2(CLN5):c.32C>G (p.Ser11Cys)
|
|
|
NM_006493.2(CLN5):c.42C>G (p.Asp14Glu)
|
rs1259746826
|
|
NM_006493.2(CLN5):c.50G>A (p.Gly17Glu)
|
rs769990158
|
|
NM_006493.2(CLN5):c.52C>A (p.Gln18Lys)
|
rs773979248
|
|
NM_006493.2(CLN5):c.53A>G (p.Gln18Arg)
|
rs1287993760
|
|
NM_006493.2(CLN5):c.54A>C (p.Gln18His)
|
|
|
NM_006493.2(CLN5):c.64C>G (p.Arg22Gly)
|
|
|
NM_006493.2(CLN5):c.64C>T (p.Arg22Cys)
|
rs558597827
|
|
NM_006493.2(CLN5):c.82C>T (p.Pro28Ser)
|
|
|
NM_006493.3(CLN5):c.-126G>T (p.Gly8Trp)
|
rs762873839
|
|
NM_006493.4(CLN5):c.-11G>A
|
rs774598730
|
|
NM_006493.4(CLN5):c.-23C>T
|
rs949213778
|
|
NM_006493.4(CLN5):c.-75C>G
|
rs754544785
|
|
NM_006493.4(CLN5):c.-86C>G
|
rs988786332
|
|
NM_006493.4(CLN5):c.-94A>T
|
rs767480061
|
|
NM_006493.4(CLN5):c.-96C>G
|
rs773979248
|
|
NM_006493.4(CLN5):c.-97del
|
rs765323914
|
|
NM_006493.4(CLN5):c.-99G>A
|
rs202118652
|
|
NM_006493.4(CLN5):c.1000A>G (p.Met334Val)
|
rs747998609
|
|
NM_006493.4(CLN5):c.1009C>G (p.Pro337Ala)
|
|
|
NM_006493.4(CLN5):c.1021A>G (p.Ile341Val)
|
|
|
NM_006493.4(CLN5):c.1022T>C (p.Ile341Thr)
|
|
|
NM_006493.4(CLN5):c.1041_1042delinsCC (p.Pro347_Leu348=)
|
|
|
NM_006493.4(CLN5):c.1051A>G (p.Arg351Gly)
|
rs2154035217
|
|
NM_006493.4(CLN5):c.1057A>G (p.Lys353Glu)
|
|
|
NM_006493.4(CLN5):c.1067_1068del (p.Ser356fs)
|
rs796052345
|
|
NM_006493.4(CLN5):c.1074A>T (p.Leu358Phe)
|
rs1555274416
|
|
NM_006493.4(CLN5):c.11A>C (p.Glu4Ala)
|
|
|
NM_006493.4(CLN5):c.12G>C (p.Glu4Asp)
|
|
|
NM_006493.4(CLN5):c.175C>A (p.Arg59Ser)
|
rs765773686
|
|
NM_006493.4(CLN5):c.175C>T (p.Arg59Cys)
|
rs765773686
|
|
NM_006493.4(CLN5):c.176G>T (p.Arg59Leu)
|
rs753197537
|
|
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro)
|
rs104894386
|
|
NM_006493.4(CLN5):c.188G>T (p.Arg63Leu)
|
|
|
NM_006493.4(CLN5):c.19A>T (p.Thr7Ser)
|
rs541501705
|
|
NM_006493.4(CLN5):c.203C>T (p.Pro68Leu)
|
rs2154034626
|
|
NM_006493.4(CLN5):c.215C>G (p.Ala72Gly)
|
|
|
NM_006493.4(CLN5):c.215C>T (p.Ala72Val)
|
rs2154034628
|
|
NM_006493.4(CLN5):c.224C>T (p.Thr75Ile)
|
rs376336781
|
|
NM_006493.4(CLN5):c.229T>A (p.Cys77Ser)
|
rs2034242824
|
|
NM_006493.4(CLN5):c.236C>T (p.Thr79Ile)
|
|
|
NM_006493.4(CLN5):c.244C>T (p.Pro82Ser)
|
|
|
NM_006493.4(CLN5):c.248T>C (p.Ile83Thr)
|
|
|
NM_006493.4(CLN5):c.248T>G (p.Ile83Ser)
|
rs2034243356
|
|
NM_006493.4(CLN5):c.270T>A (p.Asp90Glu)
|
rs898862493
|
|
NM_006493.4(CLN5):c.279A>T (p.Glu93Asp)
|
rs2154034642
|
|
NM_006493.4(CLN5):c.287G>A (p.Arg96Gln)
|
rs201068201
|
|
NM_006493.4(CLN5):c.287G>T (p.Arg96Leu)
|
|
|
NM_006493.4(CLN5):c.291A>C (p.Leu97Phe)
|
rs2154034643
|
|
NM_006493.4(CLN5):c.335A>T (p.His112Leu)
|
|
|
NM_006493.4(CLN5):c.336C>G (p.His112Gln)
|
rs2034245418
|
|
NM_006493.4(CLN5):c.339G>C (p.Leu113Phe)
|
rs147214555
|
|
NM_006493.4(CLN5):c.347T>C (p.Met116Thr)
|
rs2154034705
|
|
NM_006493.4(CLN5):c.358A>G (p.Ile120Val)
|
rs1231886495
|
|
NM_006493.4(CLN5):c.359T>C (p.Ile120Thr)
|
|
|
NM_006493.4(CLN5):c.391T>C (p.Tyr131His)
|
|
|
NM_006493.4(CLN5):c.395C>T (p.Thr132Ile)
|
rs1305273453
|
|
NM_006493.4(CLN5):c.398T>G (p.Met133Arg)
|
rs1419308949
|
|
NM_006493.4(CLN5):c.422T>C (p.Leu141Pro)
|
|
|
NM_006493.4(CLN5):c.442C>T (p.His148Tyr)
|
rs752563013
|
|
NM_006493.4(CLN5):c.446T>C (p.Leu149Pro)
|
rs386833976
|
|
NM_006493.4(CLN5):c.449G>A (p.Arg150Gln)
|
rs1014000261
|
|
NM_006493.4(CLN5):c.451C>T (p.Pro151Ser)
|
rs777080820
|
|
NM_006493.4(CLN5):c.460G>C (p.Asp154His)
|
|
|
NM_006493.4(CLN5):c.464C>T (p.Ala155Val)
|
rs2154034734
|
|
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser)
|
rs386833977
|
|
NM_006493.4(CLN5):c.500T>C (p.Phe167Ser)
|
rs1393893027
|
|
NM_006493.4(CLN5):c.515A>G (p.Asp172Gly)
|
|
|
NM_006493.4(CLN5):c.535G>T (p.Gly179Trp)
|
rs2034263363
|
|
NM_006493.4(CLN5):c.544G>A (p.Val182Ile)
|
rs1064795474
|
|
NM_006493.4(CLN5):c.550G>A (p.Val184Ile)
|
rs1566219289
|
|
NM_006493.4(CLN5):c.563C>T (p.Ser188Leu)
|
|
|
NM_006493.4(CLN5):c.573G>A (p.Met191Ile)
|
rs2034339154
|
|
NM_006493.4(CLN5):c.574T>G (p.Phe192Val)
|
rs1555274325
|
|
NM_006493.4(CLN5):c.587C>T (p.Ala196Val)
|
rs2034339472
|
|
NM_006493.4(CLN5):c.661G>C (p.Gly221Arg)
|
rs755669847
|
|
NM_006493.4(CLN5):c.675G>C (p.Trp225Cys)
|
rs1555274338
|
|
NM_006493.4(CLN5):c.702T>G (p.Phe234Leu)
|
rs1593914834
|
|
NM_006493.4(CLN5):c.704T>C (p.Val235Ala)
|
rs535755345
|
|
NM_006493.4(CLN5):c.739G>A (p.Ala247Thr)
|
|
|
NM_006493.4(CLN5):c.745T>G (p.Phe249Val)
|
|
|
NM_006493.4(CLN5):c.751A>G (p.Asn251Asp)
|
|
|
NM_006493.4(CLN5):c.756A>G (p.Ile252Met)
|
|
|
NM_006493.4(CLN5):c.757G>C (p.Glu253Gln)
|
rs1232560552
|
|
NM_006493.4(CLN5):c.773G>T (p.Arg258Ile)
|
rs376675270
|
|
NM_006493.4(CLN5):c.788G>A (p.Ser263Asn)
|
rs730882146
|
|
NM_006493.4(CLN5):c.818C>T (p.Thr273Ile)
|
|
|
NM_006493.4(CLN5):c.866A>G (p.Lys289Arg)
|
|
|
NM_006493.4(CLN5):c.875A>T (p.Tyr292Phe)
|
|
|
NM_006493.4(CLN5):c.885C>G (p.Phe295Leu)
|
rs772050001
|
|
NM_006493.4(CLN5):c.889C>A (p.Pro297Thr)
|
|
|
NM_006493.4(CLN5):c.902C>A (p.Thr301Asn)
|
rs1298505272
|
|
NM_006493.4(CLN5):c.928C>G (p.Gln310Glu)
|
|
|
NM_006493.4(CLN5):c.936T>G (p.Phe312Leu)
|
rs2154035192
|
|
NM_006493.4(CLN5):c.947T>G (p.Ile316Ser)
|
|
|
NM_006493.4(CLN5):c.955A>G (p.Lys319Glu)
|
rs202171514
|
|
NM_006493.4(CLN5):c.958C>G (p.Gln320Glu)
|
|
|
NM_006493.4(CLN5):c.959A>G (p.Gln320Arg)
|
|
|
NM_006493.4(CLN5):c.990G>T (p.Trp330Cys)
|
rs386833968
|
|