NM_006493.4(CLN5):c.-87C>T
|
rs200353554
|
0.00309
|
NM_006493.4(CLN5):c.-99G>C
|
rs202118652
|
0.00208
|
NM_006493.4(CLN5):c.-146T>C
|
rs201615354
|
0.00104
|
NM_006493.4(CLN5):c.417C>T (p.Phe139=)
|
rs371229525
|
0.00009
|
NM_006493.4(CLN5):c.642A>T (p.Val214=)
|
rs751496223
|
0.00007
|
NM_006493.4(CLN5):c.687C>T (p.Tyr229=)
|
rs778480440
|
0.00005
|
NM_006493.4(CLN5):c.486C>T (p.Gly162=)
|
rs769007858
|
0.00004
|
NM_006493.2(CLN5):c.54A>G (p.Gln18=)
|
rs767480061
|
0.00003
|
NM_006493.4(CLN5):c.-103G>T
|
rs777933047
|
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_006493.2(CLN5):c.117G>C (p.Ser39=)
|
rs779934262
|
0.00002
|
NM_006493.2(CLN5):c.1A>C (p.Met1Leu)
|
rs1268502139
|
0.00002
|
NM_006493.2(CLN5):c.57C>A (p.Gly19=)
|
rs1057522685
|
0.00002
|
NM_006493.4(CLN5):c.1038C>T (p.Ile346=)
|
rs571023549
|
0.00002
|
NM_006493.4(CLN5):c.1047T>A (p.Pro349=)
|
rs775266818
|
0.00002
|
NM_006493.4(CLN5):c.333A>T (p.Gly111=)
|
rs751611392
|
0.00002
|
NM_006493.4(CLN5):c.366C>T (p.Phe122=)
|
rs374025536
|
0.00002
|
NM_006493.4(CLN5):c.627T>C (p.Tyr209=)
|
rs763980789
|
0.00002
|
NM_006493.4(CLN5):c.654A>C (p.Pro218=)
|
rs752406072
|
0.00002
|
NM_006493.4(CLN5):c.804T>C (p.Tyr268=)
|
rs575331884
|
0.00002
|
NM_006493.4(CLN5):c.831G>T (p.Gly277=)
|
rs749457168
|
0.00002
|
NM_006493.4(CLN5):c.915G>A (p.Leu305=)
|
rs760172666
|
0.00002
|
NC_000013.11:g.76991969C>A
|
rs1439964955
|
0.00001
|
NC_000013.11:g.76992020C>G
|
rs1408667627
|
0.00001
|
NC_000013.11:g.76992044C>T
|
rs958702453
|
0.00001
|
NC_000013.11:g.76992047C>T
|
rs751917173
|
0.00001
|
NC_000013.11:g.76992077C>A
|
rs1347085017
|
0.00001
|
NM_006493.2(CLN5):c.24G>A (p.Gly8=)
|
rs751533177
|
0.00001
|
NM_006493.4(CLN5):c.-109T>A
|
rs758802850
|
0.00001
|
NM_006493.4(CLN5):c.177C>T (p.Arg59=)
|
rs1696247688
|
0.00001
|
NM_006493.4(CLN5):c.18C>T (p.Asp6=)
|
rs1289582170
|
0.00001
|
NM_006493.4(CLN5):c.207T>C (p.Tyr69=)
|
rs764103764
|
0.00001
|
NM_006493.4(CLN5):c.21G>T (p.Thr7=)
|
rs1057521258
|
0.00001
|
NM_006493.4(CLN5):c.234A>C (p.Pro78=)
|
rs998407254
|
0.00001
|
NM_006493.4(CLN5):c.24A>G (p.Ala8=)
|
rs757756318
|
0.00001
|
NM_006493.4(CLN5):c.333A>G (p.Gly111=)
|
rs751611392
|
0.00001
|
NM_006493.4(CLN5):c.339+11A>G
|
rs755999018
|
0.00001
|
NM_006493.4(CLN5):c.342A>G (p.Lys114=)
|
rs770149235
|
0.00001
|
NM_006493.4(CLN5):c.435A>G (p.Thr145=)
|
rs1031492461
|
0.00001
|
NM_006493.4(CLN5):c.528G>A (p.Lys176=)
|
rs776987374
|
0.00001
|
NM_006493.4(CLN5):c.565+15T>G
|
rs751120160
|
0.00001
|
NM_006493.4(CLN5):c.565+20C>T
|
rs780892019
|
0.00001
|
NM_006493.4(CLN5):c.618A>C (p.Gly206=)
|
rs1240633550
|
0.00001
|
NM_006493.4(CLN5):c.724T>C (p.Leu242=)
|
rs2034342969
|
0.00001
|
NM_006493.4(CLN5):c.925T>C (p.Leu309=)
|
rs1316505069
|
0.00001
|
NC_000013.11:g.76991960G>A
|
rs1389856811
|
|
NC_000013.11:g.76991966G>A
|
rs949252072
|
|
NC_000013.11:g.76991969C>G
|
rs1439964955
|
|
NC_000013.11:g.76991993C>T
|
rs1259746826
|
|
NC_000013.11:g.76992014G>C
|
rs1231942714
|
|
NC_000013.11:g.76992020C>T
|
rs1408667627
|
|
NC_000013.11:g.76992023A>C
|
rs7987664
|
|
NC_000013.11:g.76992026G>T
|
rs2154034204
|
|
NC_000013.11:g.76992029G>C
|
rs2154034206
|
|
NC_000013.11:g.76992050A>C
|
rs1447037153
|
|
NC_000013.11:g.76992056G>A
|
rs2154034220
|
|
NC_000013.11:g.76992059G>T
|
rs1413474600
|
|
NC_000013.11:g.76992065C>G
|
rs2154034221
|
|
NC_000013.11:g.76992068G>T
|
rs779934262
|
|
NM_006493.2(CLN5):c.102G>A (p.Pro34=)
|
|
|
NM_006493.2(CLN5):c.102G>C (p.Pro34=)
|
|
|
NM_006493.2(CLN5):c.111G>A (p.Gln37=)
|
rs1593906853
|
|
NM_006493.2(CLN5):c.117G>A (p.Ser39=)
|
|
|
NM_006493.2(CLN5):c.120A>G (p.Arg40=)
|
|
|
NM_006493.2(CLN5):c.129A>G (p.Gly43=)
|
|
|
NM_006493.2(CLN5):c.15G>C (p.Leu5=)
|
|
|
NM_006493.2(CLN5):c.19T>C (p.Leu7=)
|
|
|
NM_006493.2(CLN5):c.24G>T (p.Gly8=)
|
|
|
NM_006493.2(CLN5):c.2T>A (p.Met1Lys)
|
rs201615354
|
|
NM_006493.2(CLN5):c.33T>C (p.Ser11=)
|
|
|
NM_006493.2(CLN5):c.36A>C (p.Gly12=)
|
|
|
NM_006493.2(CLN5):c.39T>C (p.Ala13=)
|
|
|
NM_006493.2(CLN5):c.45G>A (p.Ala15=)
|
|
|
NM_006493.2(CLN5):c.45G>C (p.Ala15=)
|
|
|
NM_006493.2(CLN5):c.48G>A (p.Gln16=)
|
|
|
NM_006493.2(CLN5):c.51G>A (p.Gly17=)
|
|
|
NM_006493.2(CLN5):c.51G>C (p.Gly17=)
|
rs763032153
|
|
NM_006493.2(CLN5):c.51G>T (p.Gly17=)
|
|
|
NM_006493.2(CLN5):c.6C>G (p.Arg2=)
|
|
|
NM_006493.2(CLN5):c.78G>A (p.Ala26=)
|
|
|
NM_006493.4(CLN5):c.-10G>C
|
rs1470454519
|
|
NM_006493.4(CLN5):c.-13T>C
|
rs2034184700
|
|
NM_006493.4(CLN5):c.-1G>C
|
rs2154034238
|
|
NM_006493.4(CLN5):c.-3C>T
|
rs1593906921
|
|
NM_006493.4(CLN5):c.-7C>T
|
|
|
NM_006493.4(CLN5):c.1038C>A (p.Ile346=)
|
|
|
NM_006493.4(CLN5):c.1053A>G (p.Arg351=)
|
|
|
NM_006493.4(CLN5):c.1065C>A (p.Leu355=)
|
rs1593915385
|
|
NM_006493.4(CLN5):c.1072T>C (p.Leu358=)
|
rs2154035221
|
|
NM_006493.4(CLN5):c.15A>G (p.Val5=)
|
rs2034185809
|
|
NM_006493.4(CLN5):c.174-19G>A
|
|
|
NM_006493.4(CLN5):c.174-20G>A
|
|
|
NM_006493.4(CLN5):c.174-3del
|
rs777686161
|
|
NM_006493.4(CLN5):c.174-5A>G
|
|
|
NM_006493.4(CLN5):c.174-6T>C
|
rs2154034620
|
|
NM_006493.4(CLN5):c.174-8_174-6del
|
|
|
NM_006493.4(CLN5):c.174-9_174-6del
|
|
|
NM_006493.4(CLN5):c.189T>C (p.Arg63=)
|
rs2154034624
|
|
NM_006493.4(CLN5):c.192A>G (p.Pro64=)
|
|
|
NM_006493.4(CLN5):c.204T>G (p.Pro68=)
|
rs2154034627
|
|
NM_006493.4(CLN5):c.213A>G (p.Gln71=)
|
|
|
NM_006493.4(CLN5):c.21G>A (p.Thr7=)
|
rs1057521258
|
|
NM_006493.4(CLN5):c.21G>C (p.Thr7=)
|
rs1057521258
|
|
NM_006493.4(CLN5):c.222T>C (p.Tyr74=)
|
rs1389509356
|
|
NM_006493.4(CLN5):c.228C>T (p.Phe76=)
|
|
|
NM_006493.4(CLN5):c.231T>C (p.Cys77=)
|
|
|
NM_006493.4(CLN5):c.240C>T (p.Gly80=)
|
|
|
NM_006493.4(CLN5):c.24A>C (p.Ala8=)
|
rs757756318
|
|
NM_006493.4(CLN5):c.270T>C (p.Asp90=)
|
rs898862493
|
|
NM_006493.4(CLN5):c.289T>C (p.Leu97=)
|
|
|
NM_006493.4(CLN5):c.303A>G (p.Val101=)
|
|
|
NM_006493.4(CLN5):c.303A>T (p.Val101=)
|
rs2154034645
|
|
NM_006493.4(CLN5):c.312T>C (p.Phe104=)
|
|
|
NM_006493.4(CLN5):c.321A>G (p.Gly107=)
|
|
|
NM_006493.4(CLN5):c.327C>A (p.Leu109=)
|
|
|
NM_006493.4(CLN5):c.336C>T (p.His112=)
|
rs2034245418
|
|
NM_006493.4(CLN5):c.337T>C (p.Leu113=)
|
|
|
NM_006493.4(CLN5):c.339+13C>T
|
rs2154034651
|
|
NM_006493.4(CLN5):c.339+15T>C
|
|
|
NM_006493.4(CLN5):c.339+17G>A
|
|
|
NM_006493.4(CLN5):c.339+19C>A
|
|
|
NM_006493.4(CLN5):c.339+7A>G
|
|
|
NM_006493.4(CLN5):c.340-12G>A
|
rs1416088608
|
|
NM_006493.4(CLN5):c.340-8T>C
|
rs2154034704
|
|
NM_006493.4(CLN5):c.351T>C (p.His117=)
|
|
|
NM_006493.4(CLN5):c.354T>C (p.Asp118=)
|
|
|
NM_006493.4(CLN5):c.375A>G (p.Thr125=)
|
|
|
NM_006493.4(CLN5):c.381T>A (p.Thr127=)
|
rs34481987
|
|
NM_006493.4(CLN5):c.387G>A (p.Lys129=)
|
|
|
NM_006493.4(CLN5):c.393C>T (p.Tyr131=)
|
|
|
NM_006493.4(CLN5):c.411A>G (p.Glu137=)
|
|
|
NM_006493.4(CLN5):c.426C>G (p.Gly142=)
|
rs2034259868
|
|
NM_006493.4(CLN5):c.441C>G (p.Pro147=)
|
|
|
NM_006493.4(CLN5):c.447C>T (p.Leu149=)
|
rs1593911107
|
|
NM_006493.4(CLN5):c.450A>G (p.Arg150=)
|
|
|
NM_006493.4(CLN5):c.462T>C (p.Asp154=)
|
rs2154034733
|
|
NM_006493.4(CLN5):c.465C>T (p.Ala155=)
|
rs1480870613
|
|
NM_006493.4(CLN5):c.480T>C (p.Asn160=)
|
|
|
NM_006493.4(CLN5):c.486C>A (p.Gly162=)
|
|
|
NM_006493.4(CLN5):c.486C>G (p.Gly162=)
|
|
|
NM_006493.4(CLN5):c.489T>C (p.Ala163=)
|
rs1593911173
|
|
NM_006493.4(CLN5):c.492C>T (p.Ala164=)
|
|
|
NM_006493.4(CLN5):c.495C>T (p.Cys165=)
|
rs2034262211
|
|
NM_006493.4(CLN5):c.498T>C (p.Phe166=)
|
|
|
NM_006493.4(CLN5):c.513T>C (p.Asp171=)
|
|
|
NM_006493.4(CLN5):c.534T>C (p.Asn178=)
|
rs1368956736
|
|
NM_006493.4(CLN5):c.555A>G (p.Ala185=)
|
rs1422278737
|
|
NM_006493.4(CLN5):c.565+10G>A
|
|
|
NM_006493.4(CLN5):c.565+17T>C
|
|
|
NM_006493.4(CLN5):c.565+19G>C
|
rs756731673
|
|
NM_006493.4(CLN5):c.565+7del
|
rs2154034753
|
|
NM_006493.4(CLN5):c.566-14T>C
|
|
|
NM_006493.4(CLN5):c.566-15G>A
|
|
|
NM_006493.4(CLN5):c.566-15G>T
|
|
|
NM_006493.4(CLN5):c.566-15_566-11del
|
rs771601428
|
|
NM_006493.4(CLN5):c.566-20_566-19insA
|
|
|
NM_006493.4(CLN5):c.566-7A>C
|
|
|
NM_006493.4(CLN5):c.566-7A>G
|
rs772501269
|
|
NM_006493.4(CLN5):c.566-8T>A
|
rs2154035102
|
|
NM_006493.4(CLN5):c.576C>T (p.Phe192=)
|
|
|
NM_006493.4(CLN5):c.588A>G (p.Ala196=)
|
|
|
NM_006493.4(CLN5):c.591G>A (p.Lys197=)
|
rs1402613512
|
|
NM_006493.4(CLN5):c.597G>A (p.Val199=)
|
rs2154035110
|
|
NM_006493.4(CLN5):c.606C>T (p.Asp202=)
|
rs2154035112
|
|
NM_006493.4(CLN5):c.609T>C (p.Asn203=)
|
|
|
NM_006493.4(CLN5):c.615A>G (p.Thr205=)
|
rs769662577
|
|
NM_006493.4(CLN5):c.639T>C (p.Asn213=)
|
|
|
NM_006493.4(CLN5):c.666A>G (p.Ala222=)
|
rs1471280655
|
|
NM_006493.4(CLN5):c.669G>A (p.Glu223=)
|
|
|
NM_006493.4(CLN5):c.6G>T (p.Ala2=)
|
|
|
NM_006493.4(CLN5):c.705G>T (p.Val235=)
|
|
|
NM_006493.4(CLN5):c.714C>G (p.Thr238=)
|
rs762726568
|
|
NM_006493.4(CLN5):c.720C>T (p.Asn240=)
|
rs2154035139
|
|
NM_006493.4(CLN5):c.729T>C (p.Ala243=)
|
rs1349247735
|
|
NM_006493.4(CLN5):c.762C>G (p.Thr254=)
|
rs1195593976
|
|
NM_006493.4(CLN5):c.762C>T (p.Thr254=)
|
|
|
NM_006493.4(CLN5):c.768T>C (p.Tyr256=)
|
|
|
NM_006493.4(CLN5):c.771A>G (p.Thr257=)
|
rs2154035148
|
|
NM_006493.4(CLN5):c.798T>C (p.Pro266=)
|
rs2034345081
|
|
NM_006493.4(CLN5):c.849T>C (p.Thr283=)
|
|
|
NM_006493.4(CLN5):c.861C>T (p.Ala287=)
|
rs2154035176
|
|
NM_006493.4(CLN5):c.867A>G (p.Lys289=)
|
rs2154035177
|
|
NM_006493.4(CLN5):c.891A>G (p.Pro297=)
|
rs2154035180
|
|
NM_006493.4(CLN5):c.903T>C (p.Thr301=)
|
rs1161385670
|
|
NM_006493.4(CLN5):c.915G>T (p.Leu305=)
|
|
|
NM_006493.4(CLN5):c.921T>C (p.Ser307=)
|
|
|
NM_006493.4(CLN5):c.951G>A (p.Val317=)
|
rs369238431
|
|
NM_006493.4(CLN5):c.954C>T (p.His318=)
|
|
|
NM_006493.4(CLN5):c.955_956delinsCG (p.Lys319Arg)
|
rs2034348880
|
|
NM_006493.4(CLN5):c.957A>G (p.Lys319=)
|
rs1422809171
|
|
NM_006493.4(CLN5):c.963C>T (p.Phe321=)
|
rs756149425
|
|
NM_006493.4(CLN5):c.969G>A (p.Leu323=)
|
|
|
NM_006493.4(CLN5):c.975T>C (p.Tyr325=)
|
|
|
NM_006493.4(CLN5):c.978T>C (p.Asn326=)
|
rs2154035200
|
|
NM_006493.4(CLN5):c.984A>G (p.Glu328=)
|
rs1593915252
|
|