NM_006493.4(CLN5):c.956A>G (p.Lys319Arg)
|
rs1800209
|
0.19521
|
NM_006493.4(CLN5):c.*292G>A
|
rs700363
|
0.12838
|
NM_006493.4(CLN5):c.-144C>T
|
rs77416795
|
0.12832
|
NM_006493.4(CLN5):c.*155C>T
|
rs700365
|
0.09182
|
NM_006493.4(CLN5):c.*33A>G
|
rs9573974
|
0.08077
|
NM_006493.4(CLN5):c.-76A>G
|
rs7987664
|
0.07840
|
NM_006493.4(CLN5):c.*1279G>C
|
rs9635010
|
0.04936
|
NM_006493.4(CLN5):c.1041T>C (p.Pro347=)
|
rs36038805
|
0.03060
|
NM_006493.4(CLN5):c.*158C>G
|
rs111327761
|
0.01567
|
NM_006493.4(CLN5):c.381T>G (p.Thr127=)
|
rs34481987
|
0.01377
|
NM_006493.4(CLN5):c.*1132A>G
|
rs80200123
|
0.01375
|
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)
|
rs138611001
|
0.00910
|
NM_006493.4(CLN5):c.*180C>T
|
rs700364
|
0.00556
|
NM_006493.4(CLN5):c.*1159G>A
|
rs75441116
|
0.00513
|
NM_006493.4(CLN5):c.-87C>T
|
rs200353554
|
0.00309
|
NM_006493.4(CLN5):c.*721G>A
|
rs145949751
|
0.00286
|
NM_006493.4(CLN5):c.-99G>C
|
rs202118652
|
0.00208
|
NM_006493.4(CLN5):c.*975G>A
|
rs539756080
|
0.00118
|
NM_006493.4(CLN5):c.-146T>C
|
rs201615354
|
0.00104
|
NM_006493.4(CLN5):c.*310T>C
|
rs553934239
|
0.00064
|
NM_006493.4(CLN5):c.*468G>C
|
rs752211672
|
0.00060
|
NM_006493.4(CLN5):c.459G>A (p.Met153Ile)
|
rs144656959
|
0.00058
|
NM_006493.4(CLN5):c.5C>T (p.Ala2Val)
|
rs146993892
|
0.00050
|
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.*963T>G
|
rs569028453
|
0.00017
|
NM_006493.4(CLN5):c.1026A>G (p.Thr342=)
|
rs200637649
|
0.00011
|
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)
|
rs546989392
|
0.00010
|
NM_006493.4(CLN5):c.-4C>T
|
rs587780896
|
0.00009
|
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.569A>G (p.Asn190Ser)
|
rs369100769
|
0.00007
|
NM_006493.4(CLN5):c.642A>T (p.Val214=)
|
rs751496223
|
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_006493.2(CLN5):c.-8G>A
|
rs772316134
|
0.00004
|
NM_006493.4(CLN5):c.*636A>G
|
rs755618302
|
0.00004
|
NM_006493.4(CLN5):c.*954T>C
|
rs886050317
|
0.00004
|
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter)
|
rs386833980
|
0.00004
|
NM_006493.4(CLN5):c.838G>T (p.Gly280Ter)
|
rs768449493
|
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.-103G>T
|
rs777933047
|
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.176G>A (p.Arg59His)
|
rs753197537
|
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.424G>C (p.Gly142Arg)
|
rs201464545
|
0.00003
|
NM_006493.4(CLN5):c.487G>A (p.Ala163Thr)
|
rs148544801
|
0.00003
|
NM_006493.4(CLN5):c.522dup (p.Trp175fs)
|
rs386833979
|
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_006493.2(CLN5):c.1A>C (p.Met1Leu)
|
rs1268502139
|
0.00002
|
NM_006493.4(CLN5):c.*1169T>C
|
rs573398552
|
0.00002
|
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter)
|
rs386833971
|
0.00002
|
NM_006493.4(CLN5):c.339+5G>C
|
rs202146713
|
0.00002
|
NM_006493.4(CLN5):c.526A>G (p.Lys176Glu)
|
rs142870036
|
0.00002
|
NM_006493.4(CLN5):c.*1490A>G
|
rs771432165
|
0.00001
|
NM_006493.4(CLN5):c.*177A>C
|
rs568174799
|
0.00001
|
NM_006493.4(CLN5):c.*609A>G
|
rs1307852062
|
0.00001
|
NM_006493.4(CLN5):c.*614C>T
|
rs1415756616
|
0.00001
|
NM_006493.4(CLN5):c.*833C>T
|
rs926933589
|
0.00001
|
NM_006493.4(CLN5):c.-113G>T
|
rs1465531119
|
0.00001
|
NM_006493.4(CLN5):c.-8G>A
|
rs761576461
|
0.00001
|
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys)
|
rs786205211
|
0.00001
|
NM_006493.4(CLN5):c.188G>A (p.Arg63His)
|
rs104894386
|
0.00001
|
NM_006493.4(CLN5):c.342A>G (p.Lys114=)
|
rs770149235
|
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.490G>T (p.Ala164Ser)
|
rs748549252
|
0.00001
|
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn)
|
rs28940280
|
0.00001
|
NM_006493.4(CLN5):c.764A>C (p.Asn255Thr)
|
rs929479143
|
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
|
NM_006493.2(CLN5):c.116C>A (p.Ser39Ter)
|
rs61504484
|
|
NM_006493.2(CLN5):c.1A>G (p.Met1Val)
|
rs1268502139
|
|
NM_006493.2(CLN5):c.2T>A (p.Met1Lys)
|
rs201615354
|
|
NM_006493.2(CLN5):c.52C>A (p.Gln18Lys)
|
rs773979248
|
|
NM_006493.2(CLN5):c.70G>C (p.Gly24Arg)
|
|
|
NM_006493.4(CLN5):c.*163G>A
|
rs994401189
|
|
NM_006493.4(CLN5):c.*263A>T
|
rs562972188
|
|
NM_006493.4(CLN5):c.*269G>A
|
rs137867457
|
|
NM_006493.4(CLN5):c.-7C>A
|
rs1555273557
|
|
NM_006493.4(CLN5):c.-94A>T
|
rs767480061
|
|
NM_006493.4(CLN5):c.-97del
|
rs765323914
|
|
NM_006493.4(CLN5):c.-98G>T
|
rs769990158
|
|
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer)
|
rs386833969
|
|
NM_006493.4(CLN5):c.1034_1037dup (p.Pro347fs)
|
rs1555274391
|
|
NM_006493.4(CLN5):c.1048_1051dup (p.Arg351fs)
|
rs1555274402
|
|
NM_006493.4(CLN5):c.1067_1068del (p.Ser356fs)
|
rs796052345
|
|
NM_006493.4(CLN5):c.174-2A>G
|
rs2034241585
|
|
NM_006493.4(CLN5):c.175C>T (p.Arg59Cys)
|
rs765773686
|
|
NM_006493.4(CLN5):c.187del (p.Arg63fs)
|
rs1555273881
|
|
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro)
|
rs104894386
|
|
NM_006493.4(CLN5):c.18del (p.Asp6fs)
|
rs1555273567
|
|
NM_006493.4(CLN5):c.191del (p.Pro64fs)
|
rs1555273882
|
|
NM_006493.4(CLN5):c.207_213del (p.Pro68_Tyr69insTer)
|
rs2034242246
|
|
NM_006493.4(CLN5):c.208T>C (p.Cys70Arg)
|
rs1593910113
|
|
NM_006493.4(CLN5):c.224C>G (p.Thr75Ser)
|
|
|
NM_006493.4(CLN5):c.230G>A (p.Cys77Tyr)
|
rs267606738
|
|
NM_006493.4(CLN5):c.287G>A (p.Arg96Gln)
|
rs201068201
|
|
NM_006493.4(CLN5):c.306G>A (p.Trp102Ter)
|
|
|
NM_006493.4(CLN5):c.338T>A (p.Leu113Ter)
|
|
|
NM_006493.4(CLN5):c.340-1del
|
rs1057516390
|
|
NM_006493.4(CLN5):c.342_346dup (p.Met116fs)
|
|
|
NM_006493.4(CLN5):c.350A>C (p.His117Pro)
|
|
|
NM_006493.4(CLN5):c.361G>A (p.Gly121Arg)
|
|
|
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter)
|
rs386833972
|
|
NM_006493.4(CLN5):c.380_381insA (p.Gly128fs)
|
rs386833973
|
|
NM_006493.4(CLN5):c.398T>G (p.Met133Arg)
|
rs1419308949
|
|
NM_006493.4(CLN5):c.400G>T (p.Glu134Ter)
|
|
|
NM_006493.4(CLN5):c.415T>C (p.Phe139Leu)
|
rs794727507
|
|
NM_006493.4(CLN5):c.418C>T (p.Gln140Ter)
|
rs386833974
|
|
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser)
|
rs386833975
|
|
NM_006493.4(CLN5):c.431G>A (p.Cys144Tyr)
|
rs1566219136
|
|
NM_006493.4(CLN5):c.431_432del (p.Cys144fs)
|
|
|
NM_006493.4(CLN5):c.434C>A (p.Thr145Lys)
|
|
|
NM_006493.4(CLN5):c.438del (p.His148fs)
|
rs1555273992
|
|
NM_006493.4(CLN5):c.446T>C (p.Leu149Pro)
|
rs386833976
|
|
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser)
|
rs386833977
|
|
NM_006493.4(CLN5):c.473G>C (p.Trp158Ser)
|
rs386833978
|
|
NM_006493.4(CLN5):c.474del (p.Trp158fs)
|
|
|
NM_006493.4(CLN5):c.475T>C (p.Cys159Arg)
|
rs2154034738
|
|
NM_006493.4(CLN5):c.510_514dup (p.Asp172fs)
|
rs1555274005
|
|
NM_006493.4(CLN5):c.525G>A (p.Trp175Ter)
|
|
|
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer)
|
rs587780315
|
|
NM_006493.4(CLN5):c.547C>T (p.Gln183Ter)
|
rs869312751
|
|
NM_006493.4(CLN5):c.553_561del (p.Ala185_Ile187del)
|
rs1555274012
|
|
NM_006493.4(CLN5):c.565+1G>A
|
rs1555274014
|
|
NM_006493.4(CLN5):c.565+2dup
|
rs1476787722
|
|
NM_006493.4(CLN5):c.566-42_*46del
|
rs1555274312
|
|
NM_006493.4(CLN5):c.566-7A>G
|
rs772501269
|
|
NM_006493.4(CLN5):c.580C>T (p.Gln194Ter)
|
rs2154035107
|
|
NM_006493.4(CLN5):c.594_597del (p.Lys197_Trp198insTer)
|
rs1593914689
|
|
NM_006493.4(CLN5):c.625T>G (p.Tyr209Asp)
|
rs386833981
|
|
NM_006493.4(CLN5):c.626A>G (p.Tyr209Cys)
|
|
|
NM_006493.4(CLN5):c.627T>A (p.Tyr209Ter)
|
|
|
NM_006493.4(CLN5):c.639_640insTT (p.Val214fs)
|
|
|
NM_006493.4(CLN5):c.661G>C (p.Gly221Arg)
|
rs755669847
|
|
NM_006493.4(CLN5):c.665_672dup (p.Trp225fs)
|
rs1555274337
|
|
NM_006493.4(CLN5):c.675G>A (p.Trp225Ter)
|
rs1555274338
|
|
NM_006493.4(CLN5):c.704T>C (p.Val235Ala)
|
rs535755345
|
|
NM_006493.4(CLN5):c.705_706del (p.Leu236fs)
|
rs1555274343
|
|
NM_006493.4(CLN5):c.713_720del (p.Thr238fs)
|
rs1555274344
|
|
NM_006493.4(CLN5):c.717dup (p.Asn240Ter)
|
|
|
NM_006493.4(CLN5):c.772del (p.Arg258fs)
|
rs386833982
|
|
NM_006493.4(CLN5):c.773G>T (p.Arg258Ile)
|
rs376675270
|
|
NM_006493.4(CLN5):c.777_778del (p.Phe260fs)
|
rs786204644
|
|
NM_006493.4(CLN5):c.788G>A (p.Ser263Asn)
|
rs730882146
|
|
NM_006493.4(CLN5):c.793G>T (p.Glu265Ter)
|
rs764495616
|
|
NM_006493.4(CLN5):c.806T>G (p.Leu269Arg)
|
rs2034345372
|
|
NM_006493.4(CLN5):c.808_823del (p.Gly270fs)
|
rs386833983
|
|
NM_006493.4(CLN5):c.812del (p.Asn271fs)
|
rs2154035159
|
|
NM_006493.4(CLN5):c.838_841del (p.Gly280fs)
|
rs1555274365
|
|
NM_006493.4(CLN5):c.864A>G (p.Ile288Met)
|
rs1375890703
|
|
NM_006493.4(CLN5):c.879C>A (p.Tyr293Ter)
|
rs386833963
|
|
NM_006493.4(CLN5):c.906del (p.Glu303fs)
|
rs1555274369
|
|
NM_006493.4(CLN5):c.907G>T (p.Glu303Ter)
|
rs121908292
|
|
NM_006493.4(CLN5):c.917del (p.Leu305_Leu306insTer)
|
rs1555274373
|
|
NM_006493.4(CLN5):c.920G>A (p.Ser307Asn)
|
rs1555274374
|
|
NM_006493.4(CLN5):c.924_925del (p.Leu309fs)
|
rs386833964
|
|
NM_006493.4(CLN5):c.925_926del (p.Leu309fs)
|
rs386833965
|
|
NM_006493.4(CLN5):c.936del (p.Phe312fs)
|
rs386833966
|
|
NM_006493.4(CLN5):c.956_959del (p.Lys319fs)
|
rs386833967
|
|
NM_006493.4(CLN5):c.958C>T (p.Gln320Ter)
|
rs750935331
|
|
NM_006493.4(CLN5):c.963C>T (p.Phe321=)
|
rs756149425
|
|
NM_006493.4(CLN5):c.965_968del (p.Tyr322fs)
|
rs2034349431
|
|
NM_006493.4(CLN5):c.969_972del (p.Leu323fs)
|
|
|
NM_006493.4(CLN5):c.981del (p.Phe327fs)
|
rs2154035202
|
|
NM_006493.4(CLN5):c.987T>G (p.Tyr329Ter)
|
rs2034349886
|
|
NM_006493.4(CLN5):c.990G>A (p.Trp330Ter)
|
rs386833968
|
|
NM_006493.4(CLN5):c.990G>T (p.Trp330Cys)
|
rs386833968
|
|
NM_006493.4(CLN5):c.995del (p.Leu332fs)
|
rs1555274387
|
|