NM_006493.4(CLN5):c.956A>G (p.Lys319Arg)
|
rs1800209
|
0.19521
|
NM_006493.4(CLN5):c.-144C>T
|
rs77416795
|
0.12832
|
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg)
|
rs77595156
|
0.11421
|
NM_001909.5(CTSD):c.465T>C (p.Thr155=)
|
rs11555039
|
0.08387
|
NM_025219.3(DNAJC5):c.321+20C>T
|
rs2295436
|
0.07912
|
NM_006493.4(CLN5):c.-76A>G
|
rs7987664
|
0.07840
|
NM_025219.3(DNAJC5):c.322-10C>T
|
rs78457562
|
0.07717
|
NM_001909.5(CTSD):c.353-17C>T
|
rs7126177
|
0.06731
|
NM_001909.5(CTSD):c.173C>T (p.Ala58Val)
|
rs17571
|
0.06134
|
NM_001909.5(CTSD):c.231C>T (p.Ala77=)
|
rs2230067
|
0.06127
|
NM_006493.4(CLN5):c.173+18C>T
|
rs112141862
|
0.05807
|
NM_001909.5(CTSD):c.828-17G>A
|
rs78735768
|
0.05315
|
NM_006493.4(CLN5):c.173+8C>T
|
rs9565308
|
0.03653
|
NM_006493.4(CLN5):c.1041T>C (p.Pro347=)
|
rs36038805
|
0.03060
|
NM_006493.4(CLN5):c.87C>G (p.Ala29=)
|
rs138037471
|
0.02484
|
NM_006493.4(CLN5):c.381T>G (p.Thr127=)
|
rs34481987
|
0.01377
|
NM_025219.3(DNAJC5):c.144C>T (p.Pro48=)
|
rs113987077
|
0.01342
|
NM_017882.3(CLN6):c.486+8C>T
|
rs149692285
|
0.01339
|
NM_001909.5(CTSD):c.1215C>A (p.Gly405=)
|
rs138733377
|
0.01277
|
NM_001909.5(CTSD):c.189C>T (p.Thr63=)
|
rs114051835
|
0.01221
|
NM_018941.4(CLN8):c.274C>T (p.His92Tyr)
|
rs34030778
|
0.01138
|
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)
|
rs112239768
|
0.01081
|
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)
|
rs138611001
|
0.00910
|
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala)
|
rs150047904
|
0.00893
|
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg)
|
rs147278302
|
0.00650
|
NM_001909.5(CTSD):c.846G>A (p.Gly282=)
|
rs112021026
|
0.00567
|
NM_001909.5(CTSD):c.1072-7G>A
|
rs149019571
|
0.00560
|
NM_017882.3(CLN6):c.298-6C>T
|
rs117038427
|
0.00549
|
NM_001909.5(CTSD):c.828-19A>C
|
rs200047861
|
0.00494
|
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly)
|
rs151295143
|
0.00475
|
NM_001909.5(CTSD):c.353-12C>T
|
rs141523461
|
0.00468
|
NM_001042432.2(CLN3):c.771G>A (p.Glu257=)
|
rs73533466
|
0.00402
|
NM_018941.4(CLN8):c.777T>C (p.Asn259=)
|
rs34814682
|
0.00334
|
NM_025219.3(DNAJC5):c.132C>T (p.Pro44=)
|
rs140948457
|
0.00314
|
NM_001042432.2(CLN3):c.313A>G (p.Ile105Val)
|
rs11552531
|
0.00312
|
NM_006493.4(CLN5):c.-87C>T
|
rs200353554
|
0.00309
|
NM_001909.5(CTSD):c.912G>A (p.Pro304=)
|
rs140238987
|
0.00281
|
NM_018941.4(CLN8):c.290G>A (p.Arg97His)
|
rs116605307
|
0.00236
|
NM_001909.5(CTSD):c.951C>T (p.Ala317=)
|
rs78306946
|
0.00211
|
NM_006493.4(CLN5):c.-99G>C
|
rs202118652
|
0.00208
|
NM_017882.3(CLN6):c.840G>A (p.Leu280=)
|
rs148949069
|
0.00198
|
NM_001909.5(CTSD):c.639C>G (p.Pro213=)
|
rs146073498
|
0.00197
|
NM_018941.4(CLN8):c.11C>T (p.Ala4Val)
|
rs147181589
|
0.00175
|
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)
|
rs143578698
|
0.00169
|
NM_006493.4(CLN5):c.705G>A (p.Val235=)
|
rs116531784
|
0.00163
|
NM_017882.3(CLN6):c.339G>A (p.Thr113=)
|
rs146135801
|
0.00141
|
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln)
|
rs104894483
|
0.00140
|
NM_025219.3(DNAJC5):c.456C>T (p.Pro152=)
|
rs140326040
|
0.00130
|
NM_017882.3(CLN6):c.53C>T (p.Ala18Val)
|
rs547125345
|
0.00120
|
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg)
|
rs199727787
|
0.00116
|
NM_001042432.2(CLN3):c.318C>T (p.Leu106=)
|
rs148248159
|
0.00115
|
NM_006493.4(CLN5):c.-146T>C
|
rs201615354
|
0.00104
|
NM_017882.3(CLN6):c.270C>T (p.Asn90=)
|
rs145247814
|
0.00104
|
NM_001042432.2(CLN3):c.768C>T (p.Thr256=)
|
rs145967477
|
0.00103
|
NM_025219.3(DNAJC5):c.107+10C>T
|
rs181906972
|
0.00101
|
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)
|
rs142269885
|
0.00083
|
NM_001042432.2(CLN3):c.238A>T (p.Thr80Ser)
|
rs150348015
|
0.00074
|
NM_025219.3(DNAJC5):c.107+12A>G
|
rs372843187
|
0.00074
|
NM_018941.4(CLN8):c.513C>G (p.Pro171=)
|
rs376910635
|
0.00073
|
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu)
|
rs146579299
|
0.00068
|
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu)
|
rs757712173
|
0.00067
|
NM_025219.3(DNAJC5):c.45A>G (p.Ser15=)
|
rs144141585
|
0.00066
|
NM_018941.4(CLN8):c.546G>A (p.Ala182=)
|
rs144047076
|
0.00064
|
NM_006493.4(CLN5):c.459G>A (p.Met153Ile)
|
rs144656959
|
0.00058
|
NM_001042432.2(CLN3):c.963-16C>G
|
rs200023908
|
0.00051
|
NM_025219.3(DNAJC5):c.282C>T (p.Asn94=)
|
rs113207069
|
0.00051
|
NM_006493.4(CLN5):c.5C>T (p.Ala2Val)
|
rs146993892
|
0.00050
|
NM_017882.3(CLN6):c.487-15C>T
|
rs200775021
|
0.00049
|
NM_001042432.2(CLN3):c.831G>A (p.Val277=)
|
rs1142183
|
0.00045
|
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly)
|
rs3743088
|
0.00042
|
NM_017882.3(CLN6):c.822G>A (p.Ala274=)
|
rs151186473
|
0.00041
|
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=)
|
rs201206239
|
0.00040
|
NM_001909.5(CTSD):c.75G>A (p.Pro25=)
|
rs140563067
|
0.00040
|
NM_001909.5(CTSD):c.353-11G>A
|
rs372689713
|
0.00039
|
NM_001909.5(CTSD):c.827+13T>C
|
rs369602025
|
0.00036
|
NM_017882.3(CLN6):c.42C>A (p.Gly14=)
|
rs373776911
|
0.00036
|
NM_001909.5(CTSD):c.1071+12A>G
|
rs113936232
|
0.00034
|
NM_006493.4(CLN5):c.265G>A (p.Asp89Asn)
|
rs138110438
|
0.00034
|
NM_001042432.2(CLN3):c.678-18C>A
|
rs370158185
|
0.00031
|
NM_001042432.2(CLN3):c.776C>T (p.Pro259Leu)
|
rs137858807
|
0.00031
|
NM_025219.3(DNAJC5):c.228C>T (p.Tyr76=)
|
rs201495666
|
0.00031
|
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu)
|
rs137906617
|
0.00029
|
NM_001909.5(CTSD):c.1071+7G>A
|
rs374010531
|
0.00029
|
NM_001909.5(CTSD):c.154G>A (p.Val52Ile)
|
rs143517230
|
0.00026
|
NM_006493.4(CLN5):c.1045C>T (p.Pro349Ser)
|
rs41287036
|
0.00026
|
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr)
|
rs147800688
|
0.00025
|
NM_018941.4(CLN8):c.112G>A (p.Val38Ile)
|
rs370199508
|
0.00024
|
NM_001042432.2(CLN3):c.616G>A (p.Gly206Ser)
|
rs370603922
|
0.00023
|
NM_001042432.2(CLN3):c.790+16C>A
|
rs200731769
|
0.00023
|
NM_001042432.2(CLN3):c.45G>A (p.Glu15=)
|
rs201824641
|
0.00022
|
NM_001909.5(CTSD):c.828-18C>T
|
rs377228580
|
0.00022
|
NM_017882.3(CLN6):c.100G>A (p.Ala34Thr)
|
rs146198681
|
0.00022
|
NM_017882.3(CLN6):c.84-18C>T
|
rs201554701
|
0.00022
|
NM_001909.5(CTSD):c.228+18G>T
|
rs376354665
|
0.00021
|
NM_006493.4(CLN5):c.656A>C (p.Glu219Ala)
|
rs11842935
|
0.00021
|
NM_017882.3(CLN6):c.282C>A (p.Pro94=)
|
rs139261571
|
0.00021
|
NM_001909.5(CTSD):c.68+10C>T
|
rs760082760
|
0.00020
|
NM_017882.3(CLN6):c.741C>T (p.His247=)
|
rs140653271
|
0.00020
|
NM_018941.4(CLN8):c.619C>G (p.Leu207Val)
|
rs151334741
|
0.00020
|
NM_001909.5(CTSD):c.240C>T (p.Tyr80=)
|
rs147641822
|
0.00019
|
NM_001909.5(CTSD):c.294G>A (p.Thr98=)
|
rs369373285
|
0.00019
|
NM_006493.4(CLN5):c.565+3_565+4dup
|
rs745312608
|
0.00019
|
NM_017882.3(CLN6):c.487-8T>C
|
rs202046680
|
0.00019
|
NM_018941.4(CLN8):c.50A>G (p.Asp17Gly)
|
rs148668081
|
0.00019
|
NM_018941.4(CLN8):c.318C>T (p.His106=)
|
rs184988046
|
0.00018
|
NM_001042432.2(CLN3):c.392G>A (p.Ser131Asn)
|
rs144770450
|
0.00017
|
NM_001042432.2(CLN3):c.537C>T (p.Ala179=)
|
rs147667964
|
0.00016
|
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)
|
rs139003032
|
0.00016
|
NM_001042432.2(CLN3):c.1027C>T (p.Arg343Cys)
|
rs201407601
|
0.00015
|
NM_001042432.2(CLN3):c.677+8G>A
|
rs368568189
|
0.00015
|
NM_006493.4(CLN5):c.19A>G (p.Thr7Ala)
|
rs541501705
|
0.00015
|
NM_001042432.2(CLN3):c.174C>T (p.Ala58=)
|
rs138433617
|
0.00014
|
NM_001909.5(CTSD):c.758A>G (p.Lys253Arg)
|
rs138191189
|
0.00014
|
NM_018941.4(CLN8):c.207G>A (p.Thr69=)
|
rs368365607
|
0.00014
|
NM_001909.5(CTSD):c.1077G>A (p.Ser359=)
|
rs138940129
|
0.00013
|
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile)
|
rs202073338
|
0.00013
|
NM_001909.5(CTSD):c.1230C>T (p.Ala410=)
|
rs772742148
|
0.00013
|
NM_001909.5(CTSD):c.142G>A (p.Ala48Thr)
|
rs555516403
|
0.00013
|
NM_001909.5(CTSD):c.957G>A (p.Pro319=)
|
rs369229897
|
0.00013
|
NM_017882.3(CLN6):c.477G>A (p.Pro159=)
|
rs370811678
|
0.00013
|
NM_018941.4(CLN8):c.200C>T (p.Ala67Val)
|
rs373957283
|
0.00013
|
NM_025219.3(DNAJC5):c.324C>G (p.Ala108=)
|
rs141103374
|
0.00013
|
NM_001909.5(CTSD):c.1202A>G (p.Asn401Ser)
|
rs147553344
|
0.00012
|
NM_001909.5(CTSD):c.90G>A (p.Thr30=)
|
rs368529527
|
0.00012
|
NM_018941.4(CLN8):c.333G>A (p.Thr111=)
|
rs377273687
|
0.00012
|
NM_025219.3(DNAJC5):c.531C>T (p.Ser177=)
|
rs376694698
|
0.00012
|
NM_001042432.2(CLN3):c.1022G>A (p.Arg341His)
|
rs201271341
|
0.00011
|
NM_001042432.2(CLN3):c.49G>A (p.Glu17Lys)
|
rs386833726
|
0.00011
|
NM_001909.5(CTSD):c.100C>T (p.Arg34Trp)
|
rs779278368
|
0.00011
|
NM_001909.5(CTSD):c.1122C>T (p.Asp374=)
|
rs145821780
|
0.00011
|
NM_001909.5(CTSD):c.592A>G (p.Ile198Val)
|
rs556334193
|
0.00011
|
NM_006493.4(CLN5):c.1026A>G (p.Thr342=)
|
rs200637649
|
0.00011
|
NM_017882.3(CLN6):c.41G>A (p.Gly14Asp)
|
rs994590268
|
0.00011
|
NM_017882.3(CLN6):c.585C>T (p.Gly195=)
|
rs144507672
|
0.00011
|
NM_018941.4(CLN8):c.599T>C (p.Met200Thr)
|
rs368646951
|
0.00011
|
NM_025219.3(DNAJC5):c.188C>T (p.Ala63Val)
|
rs139312819
|
0.00011
|
NM_001042432.2(CLN3):c.1163C>T (p.Ala388Val)
|
rs148514847
|
0.00010
|
NM_001042432.2(CLN3):c.361C>G (p.Leu121Val)
|
rs752282954
|
0.00010
|
NM_001042432.2(CLN3):c.938T>C (p.Leu313Pro)
|
rs141816714
|
0.00010
|
NM_001909.5(CTSD):c.14G>C (p.Ser5Thr)
|
rs764386803
|
0.00010
|
NM_001909.5(CTSD):c.471+16G>A
|
rs567387961
|
0.00010
|
NM_001909.5(CTSD):c.614G>A (p.Arg205His)
|
rs371522391
|
0.00010
|
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)
|
rs546989392
|
0.00010
|
NM_017882.3(CLN6):c.136G>A (p.Asp46Asn)
|
rs147623032
|
0.00010
|
NM_018941.4(CLN8):c.53A>T (p.Tyr18Phe)
|
rs142104002
|
0.00010
|
NM_018941.4(CLN8):c.59C>G (p.Ser20Cys)
|
rs749651452
|
0.00010
|
NM_018941.4(CLN8):c.725C>T (p.Thr242Met)
|
rs138821993
|
0.00010
|
NM_018941.4(CLN8):c.776A>G (p.Asn259Ser)
|
rs201956727
|
0.00010
|
NM_025219.3(DNAJC5):c.75C>T (p.Asn25=)
|
rs189308547
|
0.00010
|
NM_001042432.2(CLN3):c.649C>A (p.Leu217Met)
|
rs150913606
|
0.00009
|
NM_001042432.2(CLN3):c.754C>T (p.Pro252Ser)
|
rs769104531
|
0.00009
|
NM_001042432.2(CLN3):c.759C>A (p.Leu253=)
|
rs772274552
|
0.00009
|
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.417C>T (p.Phe139=)
|
rs371229525
|
0.00009
|
NM_006493.4(CLN5):c.812A>G (p.Asn271Ser)
|
rs199609750
|
0.00009
|
NM_017882.3(CLN6):c.298-15C>T
|
rs368661456
|
0.00009
|
NM_018941.4(CLN8):c.455A>G (p.Asn152Ser)
|
rs138581191
|
0.00009
|
NM_025219.3(DNAJC5):c.237C>T (p.Tyr79=)
|
rs149971662
|
0.00009
|
NM_025219.3(DNAJC5):c.494-20C>T
|
rs377764458
|
0.00009
|
NM_001042432.2(CLN3):c.1209G>A (p.Glu403=)
|
rs377369610
|
0.00008
|
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)
|
rs139842473
|
0.00008
|
NM_001909.5(CTSD):c.1137C>T (p.Ser379=)
|
rs141981301
|
0.00008
|
NM_001909.5(CTSD):c.471+15G>C
|
rs201413619
|
0.00008
|
NM_001909.5(CTSD):c.630C>T (p.Asn210=)
|
rs375282504
|
0.00008
|
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.120C>T (p.Gly40=)
|
rs370320230
|
0.00008
|
NM_017882.3(CLN6):c.798C>T (p.Phe266=)
|
rs140319056
|
0.00008
|
NM_018941.4(CLN8):c.15C>T (p.Ser5=)
|
rs374597781
|
0.00008
|
NM_018941.4(CLN8):c.300G>A (p.Gln100=)
|
rs148988002
|
0.00008
|
NM_018941.4(CLN8):c.522C>T (p.Cys174=)
|
rs148417620
|
0.00008
|
NM_018941.4(CLN8):c.796G>A (p.Ala266Thr)
|
rs766292710
|
0.00008
|
NM_001042432.2(CLN3):c.250C>A (p.His84Asn)
|
rs201329358
|
0.00007
|
NM_001042432.2(CLN3):c.291G>A (p.Thr97=)
|
rs367945307
|
0.00007
|
NM_001909.5(CTSD):c.261G>A (p.Thr87=)
|
rs372181453
|
0.00007
|
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_018941.4(CLN8):c.856C>T (p.Pro286Ser)
|
rs759475160
|
0.00007
|
NM_025219.3(DNAJC5):c.565C>T (p.His189Tyr)
|
rs377119075
|
0.00007
|
NM_001042432.2(CLN3):c.1012C>T (p.Arg338Cys)
|
rs776725094
|
0.00006
|
NM_001042432.2(CLN3):c.1120G>A (p.Val374Ile)
|
rs759049027
|
0.00006
|
NM_001042432.2(CLN3):c.1197+13C>T
|
rs370103287
|
0.00006
|
NM_001042432.2(CLN3):c.1229C>T (p.Ala410Val)
|
rs369801432
|
0.00006
|
NM_001042432.2(CLN3):c.126-8C>T
|
rs770136863
|
0.00006
|
NM_001042432.2(CLN3):c.222T>C (p.His74=)
|
rs201225986
|
0.00006
|
NM_001042432.2(CLN3):c.223-5A>G
|
rs1210022838
|
0.00006
|
NM_001042432.2(CLN3):c.244A>T (p.Ile82Phe)
|
rs370020452
|
0.00006
|
NM_001042432.2(CLN3):c.290C>T (p.Thr97Met)
|
rs376421578
|
0.00006
|
NM_001042432.2(CLN3):c.677+18G>A
|
rs200503055
|
0.00006
|
NM_001909.5(CTSD):c.1084G>A (p.Gly362Arg)
|
rs746733183
|
0.00006
|
NM_001909.5(CTSD):c.111G>A (p.Ser37=)
|
rs535140505
|
0.00006
|
NM_001909.5(CTSD):c.153C>T (p.Pro51=)
|
rs560041488
|
0.00006
|
NM_001909.5(CTSD):c.174G>A (p.Ala58=)
|
rs565191387
|
0.00006
|
NM_001909.5(CTSD):c.184G>A (p.Val62Met)
|
rs756892066
|
0.00006
|
NM_001909.5(CTSD):c.267C>G (p.Pro89=)
|
rs139154882
|
0.00006
|
NM_001909.5(CTSD):c.411G>A (p.Ser137=)
|
rs372999684
|
0.00006
|
NM_001909.5(CTSD):c.627C>T (p.Asn209=)
|
rs772453588
|
0.00006
|
NM_001909.5(CTSD):c.926G>A (p.Arg309His)
|
rs374540411
|
0.00006
|
NM_006493.4(CLN5):c.1048A>G (p.Ile350Val)
|
rs762333226
|
0.00006
|
NM_006493.4(CLN5):c.152G>A (p.Arg51His)
|
rs367952803
|
0.00006
|
NM_006493.4(CLN5):c.662G>A (p.Gly221Glu)
|
rs368428437
|
0.00006
|
NM_017882.3(CLN6):c.11C>T (p.Thr4Met)
|
rs1017662486
|
0.00006
|
NM_017882.3(CLN6):c.199-5C>T
|
rs371705916
|
0.00006
|
NM_017882.3(CLN6):c.213C>T (p.Leu71=)
|
rs146980624
|
0.00006
|
NM_017882.3(CLN6):c.271G>A (p.Val91Ile)
|
rs140519790
|
0.00006
|
NM_017882.3(CLN6):c.278C>T (p.Thr93Met)
|
rs150001589
|
0.00006
|
NM_017882.3(CLN6):c.316C>T (p.Arg106Cys)
|
rs202226970
|
0.00006
|
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys)
|
rs747229909
|
0.00006
|
NM_017882.3(CLN6):c.597C>G (p.Ala199=)
|
rs368546281
|
0.00006
|
NM_017882.3(CLN6):c.637C>T (p.Leu213=)
|
rs750548623
|
0.00006
|
NM_017882.3(CLN6):c.728C>T (p.Ala243Val)
|
rs767164948
|
0.00006
|
NM_017882.3(CLN6):c.799G>A (p.Ala267Thr)
|
rs374613712
|
0.00006
|
NM_018941.4(CLN8):c.287C>T (p.Ala96Val)
|
rs775400768
|
0.00006
|
NM_018941.4(CLN8):c.510G>A (p.Thr170=)
|
rs759153401
|
0.00006
|
NM_018941.4(CLN8):c.708C>T (p.Val236=)
|
rs200760828
|
0.00006
|
NM_025219.3(DNAJC5):c.243G>A (p.Ser81=)
|
rs532410241
|
0.00006
|
NM_025219.3(DNAJC5):c.419C>T (p.Ala140Val)
|
rs144915847
|
0.00006
|
NM_025219.3(DNAJC5):c.524C>T (p.Pro175Leu)
|
rs761982169
|
0.00006
|
NM_025219.3(DNAJC5):c.528A>G (p.Ala176=)
|
rs773154613
|
0.00006
|
NM_001042432.2(CLN3):c.101A>G (p.His34Arg)
|
rs759668300
|
0.00005
|
NM_001042432.2(CLN3):c.1158C>T (p.Gly386=)
|
rs145340637
|
0.00005
|
NM_001042432.2(CLN3):c.32T>C (p.Phe11Ser)
|
rs752205710
|
0.00005
|
NM_001042432.2(CLN3):c.418G>A (p.Val140Ile)
|
rs373034150
|
0.00005
|
NM_001042432.2(CLN3):c.519T>C (p.Thr173=)
|
rs983162408
|
0.00005
|
NM_001042432.2(CLN3):c.615C>T (p.Ala205=)
|
rs145631076
|
0.00005
|
NM_001042432.2(CLN3):c.626C>T (p.Pro209Leu)
|
rs139417824
|
0.00005
|
NM_001042432.2(CLN3):c.84G>A (p.Leu28=)
|
rs1004740919
|
0.00005
|
NM_001042432.2(CLN3):c.975G>A (p.Leu325=)
|
rs150174473
|
0.00005
|
NM_001909.5(CTSD):c.1071+6C>T
|
rs759803379
|
0.00005
|
NM_001909.5(CTSD):c.1208G>C (p.Arg403Thr)
|
rs779858404
|
0.00005
|
NM_001909.5(CTSD):c.216G>A (p.Lys72=)
|
rs764982673
|
0.00005
|
NM_001909.5(CTSD):c.37C>T (p.Leu13=)
|
rs763474887
|
0.00005
|
NM_001909.5(CTSD):c.410C>T (p.Ser137Leu)
|
rs777645484
|
0.00005
|
NM_001909.5(CTSD):c.505C>G (p.Leu169Val)
|
rs768487717
|
0.00005
|
NM_001909.5(CTSD):c.534C>G (p.Val178=)
|
rs758852382
|
0.00005
|
NM_001909.5(CTSD):c.606C>G (p.Ala202=)
|
rs775478289
|
0.00005
|
NM_006493.4(CLN5):c.-21G>A
|
rs529998879
|
0.00005
|
NM_006493.4(CLN5):c.173+12G>T
|
rs781182241
|
0.00005
|
NM_006493.4(CLN5):c.687C>T (p.Tyr229=)
|
rs778480440
|
0.00005
|
NM_017882.3(CLN6):c.15G>A (p.Arg5=)
|
rs1008565735
|
0.00005
|
NM_017882.3(CLN6):c.204A>G (p.Val68=)
|
rs774960579
|
0.00005
|
NM_017882.3(CLN6):c.279G>A (p.Thr93=)
|
rs746613593
|
0.00005
|
NM_017882.3(CLN6):c.678C>T (p.Thr226=)
|
rs374744816
|
0.00005
|
NM_017882.3(CLN6):c.72C>T (p.Phe24=)
|
rs767394326
|
0.00005
|
NM_017882.3(CLN6):c.749G>A (p.Arg250His)
|
rs554594996
|
0.00005
|
NM_017882.3(CLN6):c.832G>A (p.Ala278Thr)
|
rs143728911
|
0.00005
|
NM_018941.4(CLN8):c.246G>A (p.Leu82=)
|
rs144015378
|
0.00005
|
NM_018941.4(CLN8):c.666G>A (p.Leu222=)
|
rs532934034
|
0.00005
|
NM_025219.3(DNAJC5):c.231C>T (p.Asp77=)
|
rs766072943
|
0.00005
|
NM_025219.3(DNAJC5):c.486C>T (p.Asp162=)
|
rs145468246
|
0.00005
|
NM_025219.3(DNAJC5):c.513C>T (p.Ile171=)
|
rs745794091
|
0.00005
|
NM_025219.3(DNAJC5):c.52C>G (p.His18Asp)
|
rs780154907
|
0.00005
|
NM_001042432.2(CLN3):c.1002C>T (p.Arg334=)
|
rs140828382
|
0.00004
|
NM_001042432.2(CLN3):c.1095C>T (p.Phe365=)
|
rs757106140
|
0.00004
|
NM_001042432.2(CLN3):c.1119C>T (p.Leu373=)
|
rs376478363
|
0.00004
|
NM_001042432.2(CLN3):c.1168G>A (p.Val390Met)
|
rs777383109
|
0.00004
|
NM_001042432.2(CLN3):c.125+3G>A
|
rs775577824
|
0.00004
|
NM_001042432.2(CLN3):c.239C>T (p.Thr80Met)
|
rs775999656
|
0.00004
|
NM_001042432.2(CLN3):c.264A>C (p.Ser88=)
|
rs751321507
|
0.00004
|
NM_001042432.2(CLN3):c.295-17C>T
|
rs375311626
|
0.00004
|
NM_001042432.2(CLN3):c.304C>T (p.Leu102=)
|
rs1167562278
|
0.00004
|
NM_001042432.2(CLN3):c.460+3G>A
|
rs779238243
|
0.00004
|
NM_001042432.2(CLN3):c.516C>T (p.Leu172=)
|
rs148846795
|
0.00004
|
NM_001042432.2(CLN3):c.568G>A (p.Gly190Arg)
|
rs1311480802
|
0.00004
|
NM_001042432.2(CLN3):c.988G>A (p.Val330Ile)
|
rs386833744
|
0.00004
|
NM_001909.5(CTSD):c.1062C>T (p.Tyr354=)
|
rs764106396
|
0.00004
|
NM_001909.5(CTSD):c.1183A>G (p.Thr395Ala)
|
rs778724059
|
0.00004
|
NM_001909.5(CTSD):c.283G>A (p.Val95Ile)
|
rs141482597
|
0.00004
|
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe)
|
rs796052407
|
0.00004
|
NM_001909.5(CTSD):c.376G>A (p.Asp126Asn)
|
rs796052401
|
0.00004
|
NM_001909.5(CTSD):c.393C>T (p.Tyr131=)
|
rs776128996
|
0.00004
|
NM_001909.5(CTSD):c.447G>A (p.Gly149=)
|
rs752032660
|
0.00004
|
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu)
|
rs587779409
|
0.00004
|
NM_001909.5(CTSD):c.510C>T (p.Gly170=)
|
rs749196696
|
0.00004
|
NM_001909.5(CTSD):c.693C>T (p.Phe231=)
|
rs534216994
|
0.00004
|
NM_001909.5(CTSD):c.697C>T (p.Leu233=)
|
rs142330967
|
0.00004
|
NM_001909.5(CTSD):c.704+6C>T
|
rs370847523
|
0.00004
|
NM_001909.5(CTSD):c.828-4G>A
|
rs371034011
|
0.00004
|
NM_001909.5(CTSD):c.927C>T (p.Arg309=)
|
rs1174115566
|
0.00004
|
NM_001909.5(CTSD):c.972+7G>A
|
rs371747998
|
0.00004
|
NM_001909.5(CTSD):c.972+9C>T
|
rs746243061
|
0.00004
|
NM_006493.4(CLN5):c.1A>T (p.Met1Leu)
|
rs371624826
|
0.00004
|
NM_006493.4(CLN5):c.27G>A (p.Gln9=)
|
rs373102871
|
0.00004
|
NM_006493.4(CLN5):c.486C>T (p.Gly162=)
|
rs769007858
|
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_017882.3(CLN6):c.103G>A (p.Asp35Asn)
|
rs533231370
|
0.00004
|
NM_017882.3(CLN6):c.259A>G (p.Met87Val)
|
rs532180601
|
0.00004
|
NM_017882.3(CLN6):c.328C>T (p.Arg110Cys)
|
rs143928329
|
0.00004
|
NM_017882.3(CLN6):c.487-13G>A
|
rs747926816
|
0.00004
|
NM_017882.3(CLN6):c.487-20C>T
|
rs772189210
|
0.00004
|
NM_017882.3(CLN6):c.564C>A (p.Ile188=)
|
rs371326037
|
0.00004
|
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu)
|
rs587780316
|
0.00004
|
NM_017882.3(CLN6):c.754C>T (p.Arg252Cys)
|
rs145746878
|
0.00004
|
NM_017882.3(CLN6):c.755G>A (p.Arg252His)
|
rs374681194
|
0.00004
|
NM_018941.4(CLN8):c.108G>C (p.Leu36Phe)
|
rs746677418
|
0.00004
|
NM_018941.4(CLN8):c.279C>T (p.Ala93=)
|
rs372313992
|
0.00004
|
NM_018941.4(CLN8):c.332C>T (p.Thr111Met)
|
rs778188757
|
0.00004
|
NM_018941.4(CLN8):c.385C>T (p.Arg129Trp)
|
rs143694317
|
0.00004
|
NM_018941.4(CLN8):c.386G>A (p.Arg129Gln)
|
rs571617007
|
0.00004
|
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter)
|
rs144495588
|
0.00004
|
NM_018941.4(CLN8):c.523G>A (p.Val175Ile)
|
rs768139689
|
0.00004
|
NM_018941.4(CLN8):c.545C>T (p.Ala182Val)
|
rs541994118
|
0.00004
|
NM_018941.4(CLN8):c.556G>A (p.Glu186Lys)
|
rs756636772
|
0.00004
|
NM_018941.4(CLN8):c.661G>A (p.Gly221Ser)
|
rs386834136
|
0.00004
|
NM_018941.4(CLN8):c.844C>T (p.Arg282Trp)
|
rs587780898
|
0.00004
|
NM_025219.3(DNAJC5):c.108-3C>T
|
rs541118679
|
0.00004
|
NM_025219.3(DNAJC5):c.420G>T (p.Ala140=)
|
rs568985915
|
0.00004
|
NM_001042432.2(CLN3):c.1028G>A (p.Arg343His)
|
rs771305783
|
0.00003
|
NM_001042432.2(CLN3):c.1086C>G (p.Asp362Glu)
|
rs376907245
|
0.00003
|
NM_001042432.2(CLN3):c.1087G>A (p.Val363Met)
|
rs370963882
|
0.00003
|
NM_001042432.2(CLN3):c.1116C>T (p.Tyr372=)
|
rs142456044
|
0.00003
|
NM_001042432.2(CLN3):c.1167C>T (p.Tyr389=)
|
rs371025471
|
0.00003
|
NM_001042432.2(CLN3):c.1198-5C>T
|
rs764999720
|
0.00003
|
NM_001042432.2(CLN3):c.1203T>A (p.Ser401Arg)
|
rs764585366
|
0.00003
|
NM_001042432.2(CLN3):c.1240A>G (p.Ile414Val)
|
rs146124686
|
0.00003
|
NM_001042432.2(CLN3):c.1262C>T (p.Ser421Phe)
|
rs778225078
|
0.00003
|
NM_001042432.2(CLN3):c.1269G>A (p.Ser423=)
|
rs200719311
|
0.00003
|
NM_001042432.2(CLN3):c.180C>T (p.His60=)
|
rs150120797
|
0.00003
|
NM_001042432.2(CLN3):c.206C>T (p.Ser69Leu)
|
rs769840061
|
0.00003
|
NM_001042432.2(CLN3):c.319C>T (p.Pro107Ser)
|
rs149095062
|
0.00003
|
NM_001042432.2(CLN3):c.46+13G>A
|
rs532377265
|
0.00003
|
NM_001042432.2(CLN3):c.461-3C>A
|
rs181995380
|
0.00003
|
NM_001042432.2(CLN3):c.47-3C>T
|
rs377583228
|
0.00003
|
NM_001042432.2(CLN3):c.644C>A (p.Ser215Tyr)
|
rs1328657534
|
0.00003
|
NM_001042432.2(CLN3):c.677+17C>T
|
rs758724606
|
0.00003
|
NM_001042432.2(CLN3):c.69C>T (p.Pro23=)
|
rs754235288
|
0.00003
|
NM_001042432.2(CLN3):c.837+8T>A
|
rs1364896586
|
0.00003
|
NM_001042432.2(CLN3):c.859C>T (p.Pro287Ser)
|
rs796052341
|
0.00003
|
NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys)
|
rs121434286
|
0.00003
|
NM_001909.5(CTSD):c.288C>T (p.Phe96=)
|
rs778220078
|
0.00003
|
NM_001909.5(CTSD):c.432G>A (p.Ser144=)
|
rs587780916
|
0.00003
|
NM_001909.5(CTSD):c.472-11C>G
|
rs753302848
|
0.00003
|
NM_001909.5(CTSD):c.511G>A (p.Gly171Ser)
|
rs775460488
|
0.00003
|
NM_001909.5(CTSD):c.69-17C>A
|
rs371858126
|
0.00003
|
NM_001909.5(CTSD):c.704+18C>T
|
rs371260793
|
0.00003
|
NM_001909.5(CTSD):c.74C>T (p.Pro25Leu)
|
rs145852974
|
0.00003
|
NM_001909.5(CTSD):c.771T>C (p.Gly257=)
|
rs376607594
|
0.00003
|
NM_001909.5(CTSD):c.817C>T (p.His273Tyr)
|
rs145905196
|
0.00003
|
NM_001909.5(CTSD):c.828-5C>T
|
rs762444592
|
0.00003
|
NM_001909.5(CTSD):c.882G>A (p.Val294=)
|
rs778999077
|
0.00003
|
NM_001909.5(CTSD):c.945C>T (p.Ile315=)
|
rs752172496
|
0.00003
|
NM_001909.5(CTSD):c.969C>T (p.Gly323=)
|
rs774332555
|
0.00003
|
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_006493.2(CLN5):c.54A>G (p.Gln18=)
|
rs767480061
|
0.00003
|
NM_006493.4(CLN5):c.-103G>T
|
rs777933047
|
0.00003
|
NM_006493.4(CLN5):c.-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.136G>T (p.Gly46Cys)
|
rs775102823
|
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.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.78G>T (p.Trp26Cys)
|
rs104894385
|
0.00003
|
NM_006493.4(CLN5):c.80G>A (p.Cys27Tyr)
|
rs796052344
|
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_017882.3(CLN6):c.120G>A (p.Thr40=)
|
rs1034192926
|
0.00003
|
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp)
|
rs886285802
|
0.00003
|
NM_017882.3(CLN6):c.157C>T (p.Leu53=)
|
rs1172062931
|
0.00003
|
NM_017882.3(CLN6):c.329G>A (p.Arg110His)
|
rs140179213
|
0.00003
|
NM_017882.3(CLN6):c.338C>T (p.Thr113Met)
|
rs758830997
|
0.00003
|
NM_017882.3(CLN6):c.36G>A (p.Ala12=)
|
rs1048000119
|
0.00003
|
NM_017882.3(CLN6):c.446G>A (p.Arg149His)
|
rs154774638
|
0.00003
|
NM_017882.3(CLN6):c.534C>T (p.His178=)
|
rs763901402
|
0.00003
|
NM_017882.3(CLN6):c.583G>A (p.Gly195Ser)
|
rs747575187
|
0.00003
|
NM_017882.3(CLN6):c.634C>T (p.Leu212Phe)
|
rs751562146
|
0.00003
|
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)
|
rs764571295
|
0.00003
|
NM_017882.3(CLN6):c.821C>T (p.Ala274Val)
|
rs202012876
|
0.00003
|
NM_017882.3(CLN6):c.831C>T (p.Val277=)
|
rs753344266
|
0.00003
|
NM_017882.3(CLN6):c.870C>T (p.Tyr290=)
|
rs774291260
|
0.00003
|
NM_017882.3(CLN6):c.872C>T (p.Pro291Leu)
|
rs373652272
|
0.00003
|
NM_017882.3(CLN6):c.924C>T (p.Ser308=)
|
rs774237925
|
0.00003
|
NM_018941.4(CLN8):c.137C>A (p.Ser46Tyr)
|
rs1418349889
|
0.00003
|
NM_018941.4(CLN8):c.206C>T (p.Thr69Met)
|
rs776409703
|
0.00003
|
NM_018941.4(CLN8):c.266C>G (p.Pro89Arg)
|
rs919541697
|
0.00003
|
NM_018941.4(CLN8):c.270G>A (p.Val90=)
|
rs561448346
|
0.00003
|
NM_018941.4(CLN8):c.288G>A (p.Ala96=)
|
rs533351136
|
0.00003
|
NM_018941.4(CLN8):c.470A>G (p.His157Arg)
|
rs149308952
|
0.00003
|
NM_018941.4(CLN8):c.503T>C (p.Met168Thr)
|
rs374031055
|
0.00003
|
NM_018941.4(CLN8):c.543+17G>T
|
rs370471193
|
0.00003
|
NM_018941.4(CLN8):c.582G>A (p.Gln194=)
|
rs139824802
|
0.00003
|
NM_018941.4(CLN8):c.585G>C (p.Trp195Cys)
|
rs778435359
|
0.00003
|
NM_018941.4(CLN8):c.66G>C (p.Gly22=)
|
rs763583156
|
0.00003
|
NM_018941.4(CLN8):c.697C>G (p.Leu233Val)
|
rs1380901432
|
0.00003
|
NM_018941.4(CLN8):c.726G>A (p.Thr242=)
|
rs200529220
|
0.00003
|
NM_018941.4(CLN8):c.94T>C (p.Phe32Leu)
|
rs758068226
|
0.00003
|
NM_025219.3(DNAJC5):c.189G>A (p.Ala63=)
|
rs746052000
|
0.00003
|
NM_025219.3(DNAJC5):c.204G>A (p.Thr68=)
|
rs1002205118
|
0.00003
|
NM_025219.3(DNAJC5):c.255C>T (p.Tyr85=)
|
rs749077830
|
0.00003
|
NM_025219.3(DNAJC5):c.322-5C>A
|
rs373568941
|
0.00003
|
NM_025219.3(DNAJC5):c.340G>A (p.Gly114Ser)
|
rs995618637
|
0.00003
|
NM_025219.3(DNAJC5):c.389A>G (p.Asn130Ser)
|
rs761814066
|
0.00003
|
NM_025219.3(DNAJC5):c.509C>T (p.Pro170Leu)
|
rs770758533
|
0.00003
|
NM_001042432.2(CLN3):c.1001G>A (p.Arg334His)
|
rs386833695
|
0.00002
|
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter)
|
rs386833697
|
0.00002
|
NM_001042432.2(CLN3):c.1135C>T (p.Leu379=)
|
rs890026046
|
0.00002
|
NM_001042432.2(CLN3):c.1186A>G (p.Ile396Val)
|
rs781253826
|
0.00002
|
NM_001042432.2(CLN3):c.1305C>G (p.Cys435Trp)
|
rs1216521924
|
0.00002
|
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)
|
rs765893479
|
0.00002
|
NM_001042432.2(CLN3):c.197A>G (p.Lys66Arg)
|
rs769447444
|
0.00002
|
NM_001042432.2(CLN3):c.240G>A (p.Thr80=)
|
rs373911322
|
0.00002
|
NM_001042432.2(CLN3):c.243G>A (p.Pro81=)
|
rs779165392
|
0.00002
|
NM_001042432.2(CLN3):c.321C>T (p.Pro107=)
|
rs1223699867
|
0.00002
|
NM_001042432.2(CLN3):c.339G>A (p.Leu113=)
|
rs200356262
|
0.00002
|
NM_001042432.2(CLN3):c.380G>A (p.Arg127Gln)
|
rs780776829
|
0.00002
|
NM_001042432.2(CLN3):c.420C>G (p.Val140=)
|
rs544119921
|
0.00002
|
NM_001042432.2(CLN3):c.447G>T (p.Gly149=)
|
rs779918787
|
0.00002
|
NM_001042432.2(CLN3):c.46+18C>T
|
rs2046318191
|
0.00002
|
NM_001042432.2(CLN3):c.460+7G>C
|
rs369389378
|
0.00002
|
NM_001042432.2(CLN3):c.461-10C>T
|
rs768274237
|
0.00002
|
NM_001042432.2(CLN3):c.47-13C>T
|
rs370561457
|
0.00002
|
NM_001042432.2(CLN3):c.47-9C>T
|
rs148898302
|
0.00002
|
NM_001042432.2(CLN3):c.591G>A (p.Leu197=)
|
rs764082661
|
0.00002
|
NM_001042432.2(CLN3):c.641T>C (p.Leu214Pro)
|
rs749609898
|
0.00002
|
NM_001042432.2(CLN3):c.693C>T (p.Leu231=)
|
rs376590377
|
0.00002
|
NM_001042432.2(CLN3):c.741C>T (p.Ser247=)
|
rs148782327
|
0.00002
|
NM_001042432.2(CLN3):c.748C>T (p.Arg250Trp)
|
rs764881080
|
0.00002
|
NM_001042432.2(CLN3):c.749G>A (p.Arg250Gln)
|
rs374217931
|
0.00002
|
NM_001042432.2(CLN3):c.814C>T (p.Arg272Trp)
|
rs113041302
|
0.00002
|
NM_001042432.2(CLN3):c.815G>A (p.Arg272Gln)
|
rs145270402
|
0.00002
|
NM_001042432.2(CLN3):c.946G>A (p.Ala316Thr)
|
rs780974004
|
0.00002
|
NM_001909.5(CTSD):c.1076C>T (p.Ser359Leu)
|
rs545364302
|
0.00002
|
NM_001909.5(CTSD):c.1101G>A (p.Leu367=)
|
rs777289049
|
0.00002
|
NM_001909.5(CTSD):c.19C>G (p.Leu7Val)
|
rs1470191996
|
0.00002
|
NM_001909.5(CTSD):c.215A>G (p.Lys72Arg)
|
rs1307108340
|
0.00002
|
NM_001909.5(CTSD):c.270G>A (p.Gln90=)
|
rs587780915
|
0.00002
|
NM_001909.5(CTSD):c.352+8A>T
|
rs944771031
|
0.00002
|
NM_001909.5(CTSD):c.352+9C>T
|
rs764034136
|
0.00002
|
NM_001909.5(CTSD):c.444C>T (p.Ser148=)
|
rs767817481
|
0.00002
|
NM_001909.5(CTSD):c.527G>A (p.Arg176Lys)
|
rs757688598
|
0.00002
|
NM_001909.5(CTSD):c.52G>A (p.Ala18Thr)
|
rs796052403
|
0.00002
|
NM_001909.5(CTSD):c.622G>A (p.Val208Ile)
|
rs778031733
|
0.00002
|
NM_001909.5(CTSD):c.68+6G>A
|
rs1011130987
|
0.00002
|
NM_001909.5(CTSD):c.69-12C>T
|
rs764025297
|
0.00002
|
NM_001909.5(CTSD):c.69-16G>A
|
rs377703110
|
0.00002
|
NM_001909.5(CTSD):c.6G>A (p.Gln2=)
|
rs1328097097
|
0.00002
|
NM_001909.5(CTSD):c.717G>A (p.Ala239=)
|
rs368699900
|
0.00002
|
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.-84C>A
|
rs558597827
|
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.105C>T (p.Leu35=)
|
rs755024034
|
0.00002
|
NM_006493.4(CLN5):c.106G>C (p.Ala36Pro)
|
rs778982551
|
0.00002
|
NM_006493.4(CLN5):c.173+16C>A
|
rs780975343
|
0.00002
|
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter)
|
rs386833971
|
0.00002
|
NM_006493.4(CLN5):c.333A>T (p.Gly111=)
|
rs751611392
|
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.366C>T (p.Phe122=)
|
rs374025536
|
0.00002
|
NM_006493.4(CLN5):c.526A>G (p.Lys176Glu)
|
rs142870036
|
0.00002
|
NM_006493.4(CLN5):c.57G>T (p.Ala19=)
|
rs2034188115
|
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.892C>T (p.His298Tyr)
|
rs557876713
|
0.00002
|
NM_006493.4(CLN5):c.915G>A (p.Leu305=)
|
rs760172666
|
0.00002
|
NM_006493.4(CLN5):c.947T>C (p.Ile316Thr)
|
rs182060681
|
0.00002
|
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.343G>A (p.Val115Met)
|
rs762232673
|
0.00002
|
NM_017882.3(CLN6):c.423C>T (p.Gly141=)
|
rs1484448524
|
0.00002
|
NM_017882.3(CLN6):c.43G>T (p.Gly15Cys)
|
rs1057524348
|
0.00002
|
NM_017882.3(CLN6):c.482C>T (p.Thr161Met)
|
rs757734645
|
0.00002
|
NM_017882.3(CLN6):c.489C>T (p.Ile163=)
|
rs748682605
|
0.00002
|
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser)
|
rs763944821
|
0.00002
|
NM_017882.3(CLN6):c.582C>T (p.Ser194=)
|
rs769007090
|
0.00002
|
NM_017882.3(CLN6):c.666-3C>T
|
rs761161043
|
0.00002
|
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser)
|
rs150363441
|
0.00002
|
NM_017882.3(CLN6):c.84-8C>T
|
rs756782429
|
0.00002
|
NM_017882.3(CLN6):c.84-9C>T
|
rs778471506
|
0.00002
|
NM_017882.3(CLN6):c.894G>A (p.Glu298=)
|
rs780421624
|
0.00002
|
NM_017882.3(CLN6):c.912C>T (p.Thr304=)
|
rs201330867
|
0.00002
|
NM_017882.3(CLN6):c.929G>A (p.Arg310Gln)
|
rs769900670
|
0.00002
|
NM_017882.3(CLN6):c.94G>C (p.Val32Leu)
|
rs369041224
|
0.00002
|
NM_017882.3(CLN6):c.99C>T (p.Ser33=)
|
rs752449801
|
0.00002
|
NM_018941.4(CLN8):c.111C>T (p.Gly37=)
|
rs753430388
|
0.00002
|
NM_018941.4(CLN8):c.147G>A (p.Leu49=)
|
rs555757531
|
0.00002
|
NM_018941.4(CLN8):c.161G>A (p.Arg54His)
|
rs372268977
|
0.00002
|
NM_018941.4(CLN8):c.208C>T (p.Arg70Cys)
|
rs765097897
|
0.00002
|
NM_018941.4(CLN8):c.222T>C (p.Gly74=)
|
rs966203442
|
0.00002
|
NM_018941.4(CLN8):c.284A>G (p.Lys95Arg)
|
rs1432496931
|
0.00002
|
NM_018941.4(CLN8):c.289C>T (p.Arg97Cys)
|
rs1285178214
|
0.00002
|
NM_018941.4(CLN8):c.411C>G (p.Ile137Met)
|
rs147224140
|
0.00002
|
NM_018941.4(CLN8):c.543+1G>T
|
rs756267448
|
0.00002
|
NM_018941.4(CLN8):c.558G>A (p.Glu186=)
|
rs769282149
|
0.00002
|
NM_018941.4(CLN8):c.598A>G (p.Met200Val)
|
rs749595247
|
0.00002
|
NM_018941.4(CLN8):c.660C>T (p.Asp220=)
|
rs768136048
|
0.00002
|
NM_018941.4(CLN8):c.823G>C (p.Glu275Gln)
|
rs749774943
|
0.00002
|
NM_018941.4(CLN8):c.837G>T (p.Gln279His)
|
rs774442159
|
0.00002
|
NM_018941.4(CLN8):c.840G>C (p.Leu280=)
|
rs762035651
|
0.00002
|
NM_025219.3(DNAJC5):c.162G>A (p.Ala54=)
|
rs781164296
|
0.00002
|
NM_025219.3(DNAJC5):c.18G>A (p.Gln6=)
|
rs148585496
|
0.00002
|
NM_025219.3(DNAJC5):c.229G>A (p.Asp77Asn)
|
rs762638579
|
0.00002
|
NM_025219.3(DNAJC5):c.261C>T (p.Ala87=)
|
rs772397861
|
0.00002
|
NM_025219.3(DNAJC5):c.366C>T (p.Cys122=)
|
rs895228886
|
0.00002
|
NM_025219.3(DNAJC5):c.437C>T (p.Thr146Met)
|
rs779453928
|
0.00002
|
NM_025219.3(DNAJC5):c.444C>T (p.Phe148=)
|
rs772254851
|
0.00002
|
NM_025219.3(DNAJC5):c.447C>T (p.Tyr149=)
|
rs780478210
|
0.00002
|
NM_025219.3(DNAJC5):c.510G>A (p.Pro170=)
|
rs369508682
|
0.00002
|
NM_025219.3(DNAJC5):c.525G>A (p.Pro175=)
|
rs373237152
|
0.00002
|
NM_025219.3(DNAJC5):c.54C>T (p.His18=)
|
rs770638590
|
0.00002
|
NC_000013.11:g.76991969C>A
|
rs1439964955
|
0.00001
|
NC_000013.11:g.76992020C>G
|
rs1408667627
|
0.00001
|
NC_000013.11:g.76992031C>A
|
rs1168645936
|
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_001042432.2(CLN3):c.1005T>C (p.Ser335=)
|
rs1188156280
|
0.00001
|
NM_001042432.2(CLN3):c.1013G>A (p.Arg338His)
|
rs557870972
|
0.00001
|
NM_001042432.2(CLN3):c.1017C>G (p.Cys339Trp)
|
rs768479701
|
0.00001
|
NM_001042432.2(CLN3):c.1021C>T (p.Arg341Cys)
|
rs775195638
|
0.00001
|
NM_001042432.2(CLN3):c.102T>C (p.His34=)
|
rs774549218
|
0.00001
|
NM_001042432.2(CLN3):c.1033A>T (p.Thr345Ser)
|
rs150986176
|
0.00001
|
NM_001042432.2(CLN3):c.1057-16C>T
|
rs771215908
|
0.00001
|
NM_001042432.2(CLN3):c.1057-5C>T
|
rs1266477971
|
0.00001
|
NM_001042432.2(CLN3):c.1066C>T (p.Leu356=)
|
rs1222084100
|
0.00001
|
NM_001042432.2(CLN3):c.1074C>T (p.Phe358=)
|
rs1275580991
|
0.00001
|
NM_001042432.2(CLN3):c.1078C>T (p.Leu360=)
|
rs1232787477
|
0.00001
|
NM_001042432.2(CLN3):c.108G>A (p.Lys36=)
|
rs761453819
|
0.00001
|
NM_001042432.2(CLN3):c.1132A>G (p.Ile378Val)
|
rs147658282
|
0.00001
|
NM_001042432.2(CLN3):c.1152G>C (p.Leu384=)
|
rs762171432
|
0.00001
|
NM_001042432.2(CLN3):c.1159G>A (p.Ala387Thr)
|
rs768614719
|
0.00001
|
NM_001042432.2(CLN3):c.1179C>T (p.Phe393=)
|
rs755948129
|
0.00001
|
NM_001042432.2(CLN3):c.1188C>T (p.Ile396=)
|
rs926869261
|
0.00001
|
NM_001042432.2(CLN3):c.1191C>T (p.Ala397=)
|
rs779338007
|
0.00001
|
NM_001042432.2(CLN3):c.1192C>G (p.Leu398Val)
|
rs751114018
|
0.00001
|
NM_001042432.2(CLN3):c.1197+14G>A
|
rs764711492
|
0.00001
|
NM_001042432.2(CLN3):c.1198-14C>G
|
rs757911107
|
0.00001
|
NM_001042432.2(CLN3):c.1198-1G>T
|
rs386833702
|
0.00001
|
NM_001042432.2(CLN3):c.120C>T (p.Gly40=)
|
rs1457597143
|
0.00001
|
NM_001042432.2(CLN3):c.1214G>A (p.Arg405Gln)
|
rs747861558
|
0.00001
|
NM_001042432.2(CLN3):c.1225A>G (p.Met409Val)
|
rs776443981
|
0.00001
|
NM_001042432.2(CLN3):c.1233C>T (p.Ala411=)
|
rs1220767949
|
0.00001
|
NM_001042432.2(CLN3):c.1234A>G (p.Thr412Ala)
|
rs1064795206
|
0.00001
|
NM_001042432.2(CLN3):c.1242C>T (p.Ile414=)
|
rs1064886
|
0.00001
|
NM_001042432.2(CLN3):c.1249A>G (p.Thr417Ala)
|
rs570472210
|
0.00001
|
NM_001042432.2(CLN3):c.125+5G>A
|
rs386833704
|
0.00001
|
NM_001042432.2(CLN3):c.125+6T>C
|
rs745440092
|
0.00001
|
NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu)
|
rs796052338
|
0.00001
|
NM_001042432.2(CLN3):c.1257G>T (p.Gly419=)
|
rs756893993
|
0.00001
|
NM_001042432.2(CLN3):c.1268C>T (p.Ser423Leu)
|
rs386833706
|
0.00001
|
NM_001042432.2(CLN3):c.129G>A (p.Leu43=)
|
rs755493834
|
0.00001
|
NM_001042432.2(CLN3):c.144C>T (p.Asn48=)
|
rs1289753739
|
0.00001
|
NM_001042432.2(CLN3):c.146A>G (p.Asn49Ser)
|
rs1474384057
|
0.00001
|
NM_001042432.2(CLN3):c.147C>T (p.Asn49=)
|
rs571216643
|
0.00001
|
NM_001042432.2(CLN3):c.152C>T (p.Ser51Phe)
|
rs780151271
|
0.00001
|
NM_001042432.2(CLN3):c.181G>A (p.Asp61Asn)
|
rs772851701
|
0.00001
|
NM_001042432.2(CLN3):c.196A>G (p.Lys66Glu)
|
rs963189449
|
0.00001
|
NM_001042432.2(CLN3):c.1A>G (p.Met1Val)
|
rs386833708
|
0.00001
|
NM_001042432.2(CLN3):c.207G>A (p.Ser69=)
|
rs551476103
|
0.00001
|
NM_001042432.2(CLN3):c.209G>A (p.Gly70Glu)
|
rs747526330
|
0.00001
|
NM_001042432.2(CLN3):c.214C>T (p.Gln72Ter)
|
rs386833709
|
0.00001
|
NM_001042432.2(CLN3):c.223-10C>T
|
rs1467517533
|
0.00001
|
NM_001042432.2(CLN3):c.223-3T>C
|
rs776314679
|
0.00001
|
NM_001042432.2(CLN3):c.253A>C (p.Asn85His)
|
rs996285915
|
0.00001
|
NM_001042432.2(CLN3):c.266G>A (p.Arg89Gln)
|
rs766287694
|
0.00001
|
NM_001042432.2(CLN3):c.277A>G (p.Asn93Asp)
|
rs761369095
|
0.00001
|
NM_001042432.2(CLN3):c.294+12_294+14del
|
rs777491825
|
0.00001
|
NM_001042432.2(CLN3):c.294+5G>A
|
rs780921389
|
0.00001
|
NM_001042432.2(CLN3):c.295-3C>T
|
rs767755377
|
0.00001
|
NM_001042432.2(CLN3):c.298G>C (p.Val100Leu)
|
rs1478662819
|
0.00001
|
NM_001042432.2(CLN3):c.308C>T (p.Ala103Val)
|
rs760039703
|
0.00001
|
NM_001042432.2(CLN3):c.309G>A (p.Ala103=)
|
rs774996613
|
0.00001
|
NM_001042432.2(CLN3):c.327C>T (p.Leu109=)
|
rs748293490
|
0.00001
|
NM_001042432.2(CLN3):c.328G>A (p.Val110Ile)
|
rs781534624
|
0.00001
|
NM_001042432.2(CLN3):c.331A>G (p.Ile111Val)
|
rs1331033517
|
0.00001
|
NM_001042432.2(CLN3):c.33T>C (p.Phe11=)
|
rs1555469504
|
0.00001
|
NM_001042432.2(CLN3):c.353G>A (p.Gly118Asp)
|
rs753305901
|
0.00001
|
NM_001042432.2(CLN3):c.374+9G>A
|
rs766949077
|
0.00001
|
NM_001042432.2(CLN3):c.375-10A>G
|
rs1282980213
|
0.00001
|
NM_001042432.2(CLN3):c.375-6C>G
|
rs780653906
|
0.00001
|
NM_001042432.2(CLN3):c.375-7C>T
|
rs1224517800
|
0.00001
|
NM_001042432.2(CLN3):c.379C>T (p.Arg127Trp)
|
rs201168980
|
0.00001
|
NM_001042432.2(CLN3):c.381G>C (p.Arg127=)
|
rs750889321
|
0.00001
|
NM_001042432.2(CLN3):c.387C>T (p.Leu129=)
|
rs765776873
|
0.00001
|
NM_001042432.2(CLN3):c.397A>G (p.Ile133Val)
|
rs1295659689
|
0.00001
|
NM_001042432.2(CLN3):c.399T>C (p.Ile133=)
|
rs775739498
|
0.00001
|
NM_001042432.2(CLN3):c.436C>T (p.His146Tyr)
|
rs371590088
|
0.00001
|
NM_001042432.2(CLN3):c.437A>G (p.His146Arg)
|
rs1197989757
|
0.00001
|
NM_001042432.2(CLN3):c.461-16C>T
|
rs753816100
|
0.00001
|
NM_001042432.2(CLN3):c.461-1G>T
|
rs386833722
|
0.00001
|
NM_001042432.2(CLN3):c.461-4C>A
|
rs1006236175
|
0.00001
|
NM_001042432.2(CLN3):c.461-4C>T
|
rs1006236175
|
0.00001
|
NM_001042432.2(CLN3):c.464T>G (p.Val155Gly)
|
rs779304920
|
0.00001
|
NM_001042432.2(CLN3):c.47-11C>A
|
rs561083322
|
0.00001
|
NM_001042432.2(CLN3):c.47-1G>A
|
rs1555469477
|
0.00001
|
NM_001042432.2(CLN3):c.47-7C>T
|
rs776361372
|
0.00001
|
NM_001042432.2(CLN3):c.471C>T (p.Phe157=)
|
rs140670783
|
0.00001
|
NM_001042432.2(CLN3):c.533+10T>G
|
rs1447196278
|
0.00001
|
NM_001042432.2(CLN3):c.533+18G>A
|
rs376160790
|
0.00001
|
NM_001042432.2(CLN3):c.538G>A (p.Val180Met)
|
rs202215629
|
0.00001
|
NM_001042432.2(CLN3):c.543C>T (p.Ile181=)
|
rs2046221104
|
0.00001
|
NM_001042432.2(CLN3):c.558A>G (p.Ser186=)
|
rs1270038866
|
0.00001
|
NM_001042432.2(CLN3):c.576G>A (p.Gly192=)
|
rs566516380
|
0.00001
|
NM_001042432.2(CLN3):c.621C>G (p.Leu207=)
|
rs1596561484
|
0.00001
|
NM_001042432.2(CLN3):c.622dup (p.Ser208fs)
|
rs386833736
|
0.00001
|
NM_001042432.2(CLN3):c.634A>G (p.Thr212Ala)
|
rs1335425316
|
0.00001
|
NM_001042432.2(CLN3):c.647T>A (p.Met216Lys)
|
rs773602052
|
0.00001
|
NM_001042432.2(CLN3):c.665T>A (p.Leu222Gln)
|
rs781613318
|
0.00001
|
NM_001042432.2(CLN3):c.677+19G>A
|
rs367594758
|
0.00001
|
NM_001042432.2(CLN3):c.678-19G>A
|
rs770134980
|
0.00001
|
NM_001042432.2(CLN3):c.67C>T (p.Pro23Ser)
|
rs757558651
|
0.00001
|
NM_001042432.2(CLN3):c.685T>C (p.Leu229=)
|
rs779965094
|
0.00001
|
NM_001042432.2(CLN3):c.687G>A (p.Leu229=)
|
rs772327361
|
0.00001
|
NM_001042432.2(CLN3):c.740G>A (p.Ser247Asn)
|
rs1295758958
|
0.00001
|
NM_001042432.2(CLN3):c.742G>A (p.Ala248Thr)
|
rs750008067
|
0.00001
|
NM_001042432.2(CLN3):c.752A>C (p.Gln251Pro)
|
rs776890506
|
0.00001
|
NM_001042432.2(CLN3):c.757C>G (p.Leu253Val)
|
rs776122422
|
0.00001
|
NM_001042432.2(CLN3):c.761T>C (p.Ile254Thr)
|
rs745948575
|
0.00001
|
NM_001042432.2(CLN3):c.769G>A (p.Glu257Lys)
|
rs771303379
|
0.00001
|
NM_001042432.2(CLN3):c.773C>T (p.Ala258Val)
|
rs780823167
|
0.00001
|
NM_001042432.2(CLN3):c.777G>A (p.Pro259=)
|
rs751443804
|
0.00001
|
NM_001042432.2(CLN3):c.782C>T (p.Ser261Leu)
|
rs199627744
|
0.00001
|
NM_001042432.2(CLN3):c.783G>A (p.Ser261=)
|
rs752632879
|
0.00001
|
NM_001042432.2(CLN3):c.790+9C>T
|
rs1220855528
|
0.00001
|
NM_001042432.2(CLN3):c.791-7C>A
|
rs942972881
|
0.00001
|
NM_001042432.2(CLN3):c.7G>C (p.Gly3Arg)
|
rs1398814860
|
0.00001
|
NM_001042432.2(CLN3):c.837+12G>A
|
rs763812265
|
0.00001
|
NM_001042432.2(CLN3):c.837+5G>A
|
rs756848924
|
0.00001
|
NM_001042432.2(CLN3):c.850T>C (p.Tyr284His)
|
rs201090501
|
0.00001
|
NM_001042432.2(CLN3):c.860C>T (p.Pro287Leu)
|
rs1262182257
|
0.00001
|
NM_001042432.2(CLN3):c.871G>C (p.Val291Leu)
|
rs1218676230
|
0.00001
|
NM_001042432.2(CLN3):c.875A>G (p.Tyr292Cys)
|
rs755402909
|
0.00001
|
NM_001042432.2(CLN3):c.882C>T (p.Ala294=)
|
rs766972077
|
0.00001
|
NM_001042432.2(CLN3):c.89A>G (p.His30Arg)
|
rs1399199073
|
0.00001
|
NM_001042432.2(CLN3):c.8G>A (p.Gly3Asp)
|
rs756062000
|
0.00001
|
NM_001042432.2(CLN3):c.906+2T>A
|
rs771788391
|
0.00001
|
NM_001042432.2(CLN3):c.945C>T (p.His315=)
|
rs747723206
|
0.00001
|
NM_001042432.2(CLN3):c.949C>T (p.Gln317Ter)
|
rs796052335
|
0.00001
|
NM_001042432.2(CLN3):c.958C>T (p.Arg320Cys)
|
rs768466445
|
0.00001
|
NM_001042432.2(CLN3):c.962+11C>T
|
rs1419376753
|
0.00001
|
NM_001042432.2(CLN3):c.962+12G>A
|
rs780419236
|
0.00001
|
NM_001042432.2(CLN3):c.962+2T>G
|
rs746674736
|
0.00001
|
NM_001042432.2(CLN3):c.962+3A>T
|
rs796052336
|
0.00001
|
NM_001042432.2(CLN3):c.963-17C>G
|
rs746616613
|
0.00001
|
NM_001042432.2(CLN3):c.963-1G>A
|
rs386833742
|
0.00001
|
NM_001042432.2(CLN3):c.987C>T (p.Gly329=)
|
rs777779035
|
0.00001
|
NM_001042432.2(CLN3):c.999C>A (p.Ser333=)
|
rs1312281174
|
0.00001
|
NM_001042432.2(CLN3):c.99G>T (p.Ala33=)
|
rs1342527040
|
0.00001
|
NM_001909.5(CTSD):c.1008C>T (p.Pro336=)
|
rs769758232
|
0.00001
|
NM_001909.5(CTSD):c.101G>A (p.Arg34Gln)
|
rs1240316419
|
0.00001
|
NM_001909.5(CTSD):c.1028G>A (p.Gly343Glu)
|
rs796052406
|
0.00001
|
NM_001909.5(CTSD):c.1065G>A (p.Thr355=)
|
rs377098800
|
0.00001
|
NM_001909.5(CTSD):c.1066C>T (p.Leu356Phe)
|
rs775579878
|
0.00001
|
NM_001909.5(CTSD):c.1069A>G (p.Lys357Glu)
|
rs765270800
|
0.00001
|
NM_001909.5(CTSD):c.1071+17G>A
|
rs779757362
|
0.00001
|
NM_001909.5(CTSD):c.1072-9C>T
|
rs1239405435
|
0.00001
|
NM_001909.5(CTSD):c.1083C>T (p.Ala361=)
|
rs770325576
|
0.00001
|
NM_001909.5(CTSD):c.1104C>T (p.Ser368=)
|
rs771647299
|
0.00001
|
NM_001909.5(CTSD):c.1116C>T (p.Gly372=)
|
rs557342549
|
0.00001
|
NM_001909.5(CTSD):c.1128G>A (p.Pro376=)
|
rs929763593
|
0.00001
|
NM_001909.5(CTSD):c.1140G>A (p.Gly380=)
|
rs573523415
|
0.00001
|
NM_001909.5(CTSD):c.1150A>G (p.Ile384Val)
|
rs767863175
|
0.00001
|
NM_001909.5(CTSD):c.1158C>T (p.Gly386=)
|
rs762076054
|
0.00001
|
NM_001909.5(CTSD):c.1159G>A (p.Asp387Asn)
|
rs764522039
|
0.00001
|
NM_001909.5(CTSD):c.1170C>T (p.Ile390=)
|
rs370985523
|
0.00001
|
NM_001909.5(CTSD):c.1209G>A (p.Arg403=)
|
rs756019204
|
0.00001
|
NM_001909.5(CTSD):c.1221C>T (p.Ala407=)
|
rs1439111867
|
0.00001
|
NM_001909.5(CTSD):c.1222G>A (p.Glu408Lys)
|
rs554062876
|
0.00001
|
NM_001909.5(CTSD):c.1231C>T (p.Arg411Cys)
|
rs766987476
|
0.00001
|
NM_001909.5(CTSD):c.1232G>A (p.Arg411His)
|
rs200303993
|
0.00001
|
NM_001909.5(CTSD):c.127G>C (p.Val43Leu)
|
rs1252146408
|
0.00001
|
NM_001909.5(CTSD):c.135C>G (p.Asp45Glu)
|
rs573939509
|
0.00001
|
NM_001909.5(CTSD):c.150C>T (p.Gly50=)
|
rs151292135
|
0.00001
|
NM_001909.5(CTSD):c.183C>T (p.Ala61=)
|
rs370571459
|
0.00001
|
NM_001909.5(CTSD):c.190G>A (p.Glu64Lys)
|
rs539823013
|
0.00001
|
NM_001909.5(CTSD):c.199A>C (p.Ile67Leu)
|
rs1335299144
|
0.00001
|
NM_001909.5(CTSD):c.204C>T (p.Pro68=)
|
rs563052262
|
0.00001
|
NM_001909.5(CTSD):c.223A>G (p.Met75Val)
|
rs144192783
|
0.00001
|
NM_001909.5(CTSD):c.228+14C>A
|
rs1845872918
|
0.00001
|
NM_001909.5(CTSD):c.228C>T (p.Asp76=)
|
rs587780914
|
0.00001
|
NM_001909.5(CTSD):c.229-19G>A
|
rs368152533
|
0.00001
|
NM_001909.5(CTSD):c.229-20C>T
|
rs748457876
|
0.00001
|
NM_001909.5(CTSD):c.237C>T (p.Tyr79=)
|
rs996421254
|
0.00001
|
NM_001909.5(CTSD):c.241G>A (p.Gly81Arg)
|
rs199551387
|
0.00001
|
NM_001909.5(CTSD):c.244G>T (p.Glu82Ter)
|
rs1845850847
|
0.00001
|
NM_001909.5(CTSD):c.24G>C (p.Pro8=)
|
rs1478870280
|
0.00001
|
NM_001909.5(CTSD):c.260C>T (p.Thr87Met)
|
rs770248571
|
0.00001
|
NM_001909.5(CTSD):c.289G>A (p.Asp97Asn)
|
rs754680487
|
0.00001
|
NM_001909.5(CTSD):c.301T>C (p.Ser101Pro)
|
rs1049074086
|
0.00001
|
NM_001909.5(CTSD):c.345C>T (p.Ile115=)
|
rs200875086
|
0.00001
|
NM_001909.5(CTSD):c.353-20C>T
|
rs1845843686
|
0.00001
|
NM_001909.5(CTSD):c.353-7G>A
|
rs1438596750
|
0.00001
|
NM_001909.5(CTSD):c.366G>A (p.Lys122=)
|
rs369424685
|
0.00001
|
NM_001909.5(CTSD):c.371A>G (p.Asn124Ser)
|
rs375052866
|
0.00001
|
NM_001909.5(CTSD):c.375C>T (p.Ser125=)
|
rs987735225
|
0.00001
|
NM_001909.5(CTSD):c.380A>T (p.Lys127Met)
|
rs1438409242
|
0.00001
|
NM_001909.5(CTSD):c.408C>G (p.Thr136=)
|
rs1060504644
|
0.00001
|
NM_001909.5(CTSD):c.423C>G (p.His141Gln)
|
rs375323994
|
0.00001
|
NM_001909.5(CTSD):c.471G>A (p.Ser157=)
|
rs760318745
|
0.00001
|
NM_001909.5(CTSD):c.472-15T>C
|
rs758874267
|
0.00001
|
NM_001909.5(CTSD):c.488C>T (p.Ala163Val)
|
rs772976217
|
0.00001
|
NM_001909.5(CTSD):c.489G>A (p.Ala163=)
|
rs767476700
|
0.00001
|
NM_001909.5(CTSD):c.491C>T (p.Ser164Leu)
|
rs1845824897
|
0.00001
|
NM_001909.5(CTSD):c.492G>A (p.Ser164=)
|
rs577842448
|
0.00001
|
NM_001909.5(CTSD):c.518A>G (p.Lys173Arg)
|
rs746140722
|
0.00001
|
NM_001909.5(CTSD):c.51C>T (p.Pro17=)
|
rs1275398258
|
0.00001
|
NM_001909.5(CTSD):c.54C>T (p.Ala18=)
|
rs753164840
|
0.00001
|
NM_001909.5(CTSD):c.552G>A (p.Lys184=)
|
rs765849046
|
0.00001
|
NM_001909.5(CTSD):c.60G>A (p.Ala20=)
|
rs1225756370
|
0.00001
|
NM_001909.5(CTSD):c.621C>A (p.Ser207=)
|
rs367978332
|
0.00001
|
NM_001909.5(CTSD):c.631G>A (p.Val211Met)
|
rs779469223
|
0.00001
|
NM_001909.5(CTSD):c.636G>T (p.Leu212=)
|
rs567625495
|
0.00001
|
NM_001909.5(CTSD):c.63C>T (p.Leu21=)
|
rs1021613206
|
0.00001
|
NM_001909.5(CTSD):c.640G>A (p.Val214Ile)
|
rs756998360
|
0.00001
|
NM_001909.5(CTSD):c.651C>T (p.Asn217=)
|
rs1300811596
|
0.00001
|
NM_001909.5(CTSD):c.654G>A (p.Leu218=)
|
rs201551100
|
0.00001
|
NM_001909.5(CTSD):c.675C>T (p.Asp225=)
|
rs752646929
|
0.00001
|
NM_001909.5(CTSD):c.69-11G>A
|
rs199970909
|
0.00001
|
NM_001909.5(CTSD):c.704+13G>A
|
rs1337575299
|
0.00001
|
NM_001909.5(CTSD):c.705-4C>T
|
rs1057521968
|
0.00001
|
NM_001909.5(CTSD):c.705-8C>T
|
rs754748489
|
0.00001
|
NM_001909.5(CTSD):c.716C>T (p.Ala239Val)
|
rs759564989
|
0.00001
|
NM_001909.5(CTSD):c.726G>A (p.Gly242=)
|
rs774246142
|
0.00001
|
NM_001909.5(CTSD):c.729T>C (p.Gly243=)
|
rs774691757
|
0.00001
|
NM_001909.5(CTSD):c.73C>T (p.Pro25Ser)
|
rs769626991
|
0.00001
|
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn)
|
rs763407972
|
0.00001
|
NM_001909.5(CTSD):c.769G>A (p.Gly257Ser)
|
rs746312808
|
0.00001
|
NM_001909.5(CTSD):c.796C>T (p.Arg266Cys)
|
rs373621431
|
0.00001
|
NM_001909.5(CTSD):c.827+14G>A
|
rs952272760
|
0.00001
|
NM_001909.5(CTSD):c.827+19C>T
|
rs565656268
|
0.00001
|
NM_001909.5(CTSD):c.827+20G>A
|
rs763211820
|
0.00001
|
NM_001909.5(CTSD):c.827+9T>A
|
rs757270638
|
0.00001
|
NM_001909.5(CTSD):c.828-14_828-13del
|
rs796052395
|
0.00001
|
NM_001909.5(CTSD):c.829G>A (p.Val277Met)
|
rs372319807
|
0.00001
|
NM_001909.5(CTSD):c.843C>T (p.Ser281=)
|
rs776321697
|
0.00001
|
NM_001909.5(CTSD):c.891C>T (p.Gly297=)
|
rs755183661
|
0.00001
|
NM_001909.5(CTSD):c.898C>T (p.Leu300Phe)
|
rs1256954867
|
0.00001
|
NM_001909.5(CTSD):c.89C>T (p.Thr30Met)
|
rs747274524
|
0.00001
|
NM_001909.5(CTSD):c.933G>A (p.Leu311=)
|
rs1428157464
|
0.00001
|
NM_001909.5(CTSD):c.946G>A (p.Gly316Arg)
|
rs764766572
|
0.00001
|
NM_001909.5(CTSD):c.956C>T (p.Pro319Leu)
|
rs373170074
|
0.00001
|
NM_001909.5(CTSD):c.972+10G>A
|
rs531682785
|
0.00001
|
NM_001909.5(CTSD):c.972+6C>T
|
rs765320531
|
0.00001
|
NM_001909.5(CTSD):c.973-10C>T
|
rs542809677
|
0.00001
|
NM_001909.5(CTSD):c.973-14G>A
|
rs1354741089
|
0.00001
|
NM_001909.5(CTSD):c.978G>A (p.Met326Ile)
|
rs370282882
|
0.00001
|
NM_001909.5(CTSD):c.993G>A (p.Lys331=)
|
rs1181418072
|
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.-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.129G>A (p.Arg43=)
|
rs746845935
|
0.00001
|
NM_006493.4(CLN5):c.13G>A (p.Val5Ile)
|
rs1064795659
|
0.00001
|
NM_006493.4(CLN5):c.148C>T (p.Arg50Trp)
|
rs763892391
|
0.00001
|
NM_006493.4(CLN5):c.151C>A (p.Arg51Ser)
|
rs374080049
|
0.00001
|
NM_006493.4(CLN5):c.173+14C>T
|
rs757017201
|
0.00001
|
NM_006493.4(CLN5):c.173+7G>T
|
rs1485751107
|
0.00001
|
NM_006493.4(CLN5):c.177C>T (p.Arg59=)
|
rs1696247688
|
0.00001
|
NM_006493.4(CLN5):c.17A>G (p.Asp6Gly)
|
rs759063887
|
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.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.247A>G (p.Ile83Val)
|
rs750283603
|
0.00001
|
NM_006493.4(CLN5):c.24A>G (p.Ala8=)
|
rs757756318
|
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.31G>T (p.Ala11Ser)
|
rs563306322
|
0.00001
|
NM_006493.4(CLN5):c.323A>C (p.Asp108Ala)
|
rs368672718
|
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.3G>A (p.Met1Ile)
|
rs1464891081
|
0.00001
|
NM_006493.4(CLN5):c.430T>C (p.Cys144Arg)
|
rs1593911055
|
0.00001
|
NM_006493.4(CLN5):c.435A>G (p.Thr145=)
|
rs1031492461
|
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.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.565+6T>C
|
rs758229107
|
0.00001
|
NM_006493.4(CLN5):c.618A>C (p.Gly206=)
|
rs1240633550
|
0.00001
|
NM_006493.4(CLN5):c.61C>T (p.Arg21Trp)
|
rs376454715
|
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.69C>G (p.Arg23=)
|
rs1270861626
|
0.00001
|
NM_006493.4(CLN5):c.724T>C (p.Leu242=)
|
rs2034342969
|
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.925T>C (p.Leu309=)
|
rs1316505069
|
0.00001
|
NM_006493.4(CLN5):c.935T>C (p.Phe312Ser)
|
rs201767993
|
0.00001
|
NM_006493.4(CLN5):c.93G>A (p.Ala31=)
|
rs971404954
|
0.00001
|
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys)
|
rs148862100
|
0.00001
|
NM_017882.3(CLN6):c.114C>G (p.Ala38=)
|
rs1219136331
|
0.00001
|
NM_017882.3(CLN6):c.133C>T (p.Leu45Phe)
|
rs964241858
|
0.00001
|
NM_017882.3(CLN6):c.159G>A (p.Leu53=)
|
rs377148534
|
0.00001
|
NM_017882.3(CLN6):c.16A>C (p.Arg6=)
|
rs1468764503
|
0.00001
|
NM_017882.3(CLN6):c.180T>C (p.Phe60=)
|
rs1183583039
|
0.00001
|
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys)
|
rs1451777867
|
0.00001
|
NM_017882.3(CLN6):c.199-18C>A
|
rs764354435
|
0.00001
|
NM_017882.3(CLN6):c.199-2A>G
|
rs1471253353
|
0.00001
|
NM_017882.3(CLN6):c.199-4G>A
|
rs767945732
|
0.00001
|
NM_017882.3(CLN6):c.199C>G (p.Leu67Val)
|
rs759935979
|
0.00001
|
NM_017882.3(CLN6):c.205T>C (p.Phe69Leu)
|
rs1418418672
|
0.00001
|
NM_017882.3(CLN6):c.221T>G (p.Phe74Cys)
|
rs199658226
|
0.00001
|
NM_017882.3(CLN6):c.228C>T (p.Leu76=)
|
rs1306692606
|
0.00001
|
NM_017882.3(CLN6):c.240T>C (p.Ser80=)
|
rs1395492951
|
0.00001
|
NM_017882.3(CLN6):c.255C>G (p.Phe85Leu)
|
rs545955828
|
0.00001
|
NM_017882.3(CLN6):c.285T>A (p.Phe95Leu)
|
rs796052350
|
0.00001
|
NM_017882.3(CLN6):c.296A>G (p.Lys99Arg)
|
rs146782642
|
0.00001
|
NM_017882.3(CLN6):c.301A>G (p.Ile101Val)
|
rs774238261
|
0.00001
|
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys)
|
rs796052352
|
0.00001
|
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp)
|
rs201095412
|
0.00001
|
NM_017882.3(CLN6):c.311C>A (p.Ser104Tyr)
|
rs777921628
|
0.00001
|
NM_017882.3(CLN6):c.317G>A (p.Arg106His)
|
rs781133812
|
0.00001
|
NM_017882.3(CLN6):c.318C>T (p.Arg106=)
|
rs2093206613
|
0.00001
|
NM_017882.3(CLN6):c.322C>G (p.Leu108Val)
|
rs796052353
|
0.00001
|
NM_017882.3(CLN6):c.331T>C (p.Ser111Pro)
|
rs1217014085
|
0.00001
|
NM_017882.3(CLN6):c.340T>C (p.Tyr114His)
|
rs1211135399
|
0.00001
|
NM_017882.3(CLN6):c.345G>A (p.Val115=)
|
rs2093206410
|
0.00001
|
NM_017882.3(CLN6):c.346A>G (p.Ser116Gly)
|
rs2093206402
|
0.00001
|
NM_017882.3(CLN6):c.348C>T (p.Ser116=)
|
rs1231500700
|
0.00001
|
NM_017882.3(CLN6):c.355A>G (p.Ile119Val)
|
rs759241838
|
0.00001
|
NM_017882.3(CLN6):c.358T>A (p.Phe120Ile)
|
rs1433821186
|
0.00001
|
NM_017882.3(CLN6):c.396T>C (p.Ser132=)
|
rs949403836
|
0.00001
|
NM_017882.3(CLN6):c.407G>A (p.Arg136His)
|
rs769701646
|
0.00001
|
NM_017882.3(CLN6):c.409C>T (p.Leu137=)
|
rs982789458
|
0.00001
|
NM_017882.3(CLN6):c.486+1G>A
|
rs756522171
|
0.00001
|
NM_017882.3(CLN6):c.487-14C>T
|
rs371794062
|
0.00001
|
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys)
|
rs750081097
|
0.00001
|
NM_017882.3(CLN6):c.516T>C (p.Tyr172=)
|
rs547002745
|
0.00001
|
NM_017882.3(CLN6):c.51C>G (p.Gly17=)
|
rs944411833
|
0.00001
|
NM_017882.3(CLN6):c.522G>A (p.Glu174=)
|
rs753538013
|
0.00001
|
NM_017882.3(CLN6):c.543-10C>T
|
rs767297743
|
0.00001
|
NM_017882.3(CLN6):c.543-9C>T
|
rs374653673
|
0.00001
|
NM_017882.3(CLN6):c.547A>G (p.Ile183Val)
|
rs766500060
|
0.00001
|
NM_017882.3(CLN6):c.549C>T (p.Ile183=)
|
rs1384262878
|
0.00001
|
NM_017882.3(CLN6):c.558C>T (p.Phe186=)
|
rs1305810285
|
0.00001
|
NM_017882.3(CLN6):c.581G>T (p.Ser194Ile)
|
rs777142645
|
0.00001
|
NM_017882.3(CLN6):c.58C>T (p.Leu20=)
|
rs886042533
|
0.00001
|
NM_017882.3(CLN6):c.593C>G (p.Thr198Ser)
|
rs777459938
|
0.00001
|
NM_017882.3(CLN6):c.599C>G (p.Ser200Cys)
|
rs796052357
|
0.00001
|
NM_017882.3(CLN6):c.60G>A (p.Leu20=)
|
rs1287378775
|
0.00001
|
NM_017882.3(CLN6):c.61G>A (p.Gly21Ser)
|
rs916017530
|
0.00001
|
NM_017882.3(CLN6):c.63C>T (p.Gly21=)
|
rs796052348
|
0.00001
|
NM_017882.3(CLN6):c.663C>T (p.Tyr221=)
|
rs104894486
|
0.00001
|
NM_017882.3(CLN6):c.666-14C>T
|
rs764363598
|
0.00001
|
NM_017882.3(CLN6):c.666-5T>A
|
rs1401270931
|
0.00001
|
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys)
|
rs746753722
|
0.00001
|
NM_017882.3(CLN6):c.704T>A (p.Ile235Asn)
|
rs1469917052
|
0.00001
|
NM_017882.3(CLN6):c.714C>T (p.Phe238=)
|
rs772090270
|
0.00001
|
NM_017882.3(CLN6):c.718G>A (p.Ala240Thr)
|
rs779105796
|
0.00001
|
NM_017882.3(CLN6):c.732C>T (p.Leu244=)
|
rs540227628
|
0.00001
|
NM_017882.3(CLN6):c.748C>T (p.Arg250Cys)
|
rs950362413
|
0.00001
|
NM_017882.3(CLN6):c.750C>T (p.Arg250=)
|
rs537994561
|
0.00001
|
NM_017882.3(CLN6):c.757C>G (p.Leu253Val)
|
rs1274562752
|
0.00001
|
NM_017882.3(CLN6):c.763C>T (p.Leu255=)
|
rs1195840845
|
0.00001
|
NM_017882.3(CLN6):c.767A>G (p.Asp256Gly)
|
rs143781303
|
0.00001
|
NM_017882.3(CLN6):c.768C>G (p.Asp256Glu)
|
rs760271120
|
0.00001
|
NM_017882.3(CLN6):c.794C>T (p.Ser265Phe)
|
rs771007065
|
0.00001
|
NM_017882.3(CLN6):c.801A>G (p.Ala267=)
|
rs901756486
|
0.00001
|
NM_017882.3(CLN6):c.810C>G (p.Leu270=)
|
rs183399390
|
0.00001
|
NM_017882.3(CLN6):c.83+10C>T
|
rs1247368646
|
0.00001
|
NM_017882.3(CLN6):c.83+13C>T
|
rs938706029
|
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.850C>T (p.Pro284Ser)
|
rs369715206
|
0.00001
|
NM_017882.3(CLN6):c.885C>T (p.Tyr295=)
|
rs374990526
|
0.00001
|
NM_017882.3(CLN6):c.886G>A (p.Val296Ile)
|
rs781449103
|
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
|
NM_017882.3(CLN6):c.90C>T (p.Gly30=)
|
rs1254460869
|
0.00001
|
NM_017882.3(CLN6):c.918C>T (p.His306=)
|
rs1347398610
|
0.00001
|
NM_017882.3(CLN6):c.93T>C (p.Ser31=)
|
rs376510900
|
0.00001
|
NM_018941.4(CLN8):c.106T>A (p.Leu36Met)
|
rs1554448978
|
0.00001
|
NM_018941.4(CLN8):c.109G>A (p.Gly37Ser)
|
rs770240445
|
0.00001
|
NM_018941.4(CLN8):c.117T>G (p.Phe39Leu)
|
rs201670636
|
0.00001
|
NM_018941.4(CLN8):c.126C>T (p.Cys42=)
|
rs192196274
|
0.00001
|
NM_018941.4(CLN8):c.140C>T (p.Ser47Phe)
|
rs765158624
|
0.00001
|
NM_018941.4(CLN8):c.151G>A (p.Ala51Thr)
|
rs777453297
|
0.00001
|
NM_018941.4(CLN8):c.160C>T (p.Arg54Cys)
|
rs769069643
|
0.00001
|
NM_018941.4(CLN8):c.16G>T (p.Asp6Tyr)
|
rs200999640
|
0.00001
|
NM_018941.4(CLN8):c.17A>G (p.Asp6Gly)
|
rs536738656
|
0.00001
|
NM_018941.4(CLN8):c.186C>T (p.Val62=)
|
rs1057522154
|
0.00001
|
NM_018941.4(CLN8):c.18T>C (p.Asp6=)
|
rs1464108080
|
0.00001
|
NM_018941.4(CLN8):c.1A>G (p.Met1Val)
|
rs143730802
|
0.00001
|
NM_018941.4(CLN8):c.209G>A (p.Arg70His)
|
rs386834124
|
0.00001
|
NM_018941.4(CLN8):c.21G>C (p.Gly7=)
|
rs751762914
|
0.00001
|
NM_018941.4(CLN8):c.256C>T (p.Leu86=)
|
rs755248868
|
0.00001
|
NM_018941.4(CLN8):c.27A>C (p.Thr9=)
|
rs750274455
|
0.00001
|
NM_018941.4(CLN8):c.283A>T (p.Lys95Ter)
|
rs759830733
|
0.00001
|
NM_018941.4(CLN8):c.295C>T (p.Gln99Ter)
|
rs750162094
|
0.00001
|
NM_018941.4(CLN8):c.29C>G (p.Ser10Ter)
|
rs1454175058
|
0.00001
|
NM_018941.4(CLN8):c.305G>T (p.Trp102Leu)
|
rs796052365
|
0.00001
|
NM_018941.4(CLN8):c.323C>T (p.Thr108Met)
|
rs143701028
|
0.00001
|
NM_018941.4(CLN8):c.324G>A (p.Thr108=)
|
rs148124161
|
0.00001
|
NM_018941.4(CLN8):c.335G>T (p.Gly112Val)
|
rs1304439072
|
0.00001
|
NM_018941.4(CLN8):c.364C>T (p.His122Tyr)
|
rs746051539
|
0.00001
|
NM_018941.4(CLN8):c.397T>C (p.Leu133=)
|
rs1419342894
|
0.00001
|
NM_018941.4(CLN8):c.406G>T (p.Val136Phe)
|
rs187297173
|
0.00001
|
NM_018941.4(CLN8):c.408T>A (p.Val136=)
|
rs535963507
|
0.00001
|
NM_018941.4(CLN8):c.41T>C (p.Phe14Ser)
|
rs957551479
|
0.00001
|
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys)
|
rs386834130
|
0.00001
|
NM_018941.4(CLN8):c.488C>T (p.Thr163Met)
|
rs781099399
|
0.00001
|
NM_018941.4(CLN8):c.543+9A>G
|
rs982453047
|
0.00001
|
NM_018941.4(CLN8):c.555C>T (p.Ser185=)
|
rs145929862
|
0.00001
|
NM_018941.4(CLN8):c.562C>T (p.Leu188=)
|
rs587780318
|
0.00001
|
NM_018941.4(CLN8):c.609C>T (p.Cys203=)
|
rs765382699
|
0.00001
|
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)
|
rs104894060
|
0.00001
|
NM_018941.4(CLN8):c.611G>A (p.Arg204His)
|
rs386834134
|
0.00001
|
NM_018941.4(CLN8):c.614T>C (p.Met205Thr)
|
rs763967636
|
0.00001
|
NM_018941.4(CLN8):c.680A>T (p.Tyr227Phe)
|
rs368561820
|
0.00001
|
NM_018941.4(CLN8):c.709G>A (p.Gly237Arg)
|
rs746645358
|
0.00001
|
NM_018941.4(CLN8):c.716C>T (p.Ala239Val)
|
rs913988013
|
0.00001
|
NM_018941.4(CLN8):c.720G>A (p.Leu240=)
|
rs779630521
|
0.00001
|
NM_018941.4(CLN8):c.741A>G (p.Pro247=)
|
rs1470652667
|
0.00001
|
NM_018941.4(CLN8):c.753T>C (p.His251=)
|
rs1801680845
|
0.00001
|
NM_018941.4(CLN8):c.75C>T (p.Ser25=)
|
rs1276904511
|
0.00001
|
NM_018941.4(CLN8):c.780G>A (p.Pro260=)
|
rs761984333
|
0.00001
|
NM_018941.4(CLN8):c.78G>A (p.Thr26=)
|
rs933753788
|
0.00001
|
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys)
|
rs587779411
|
0.00001
|
NM_018941.4(CLN8):c.795C>T (p.Phe265=)
|
rs760610632
|
0.00001
|
NM_018941.4(CLN8):c.804A>C (p.Pro268=)
|
rs746305311
|
0.00001
|
NM_018941.4(CLN8):c.831C>T (p.Asn277=)
|
rs200083273
|
0.00001
|
NM_018941.4(CLN8):c.832G>A (p.Gly278Arg)
|
rs1358513612
|
0.00001
|
NM_018941.4(CLN8):c.843G>A (p.Leu281=)
|
rs367703234
|
0.00001
|
NM_018941.4(CLN8):c.845G>A (p.Arg282Gln)
|
rs766172825
|
0.00001
|
NM_018941.4(CLN8):c.846G>A (p.Arg282=)
|
rs1801686237
|
0.00001
|
NM_018941.4(CLN8):c.849G>A (p.Lys283=)
|
rs753758120
|
0.00001
|
NM_018941.4(CLN8):c.858A>G (p.Pro286=)
|
rs764673534
|
0.00001
|
NM_018941.4(CLN8):c.87C>T (p.Val29=)
|
rs753737213
|
0.00001
|
NM_018941.4(CLN8):c.90T>C (p.Ala30=)
|
rs376382403
|
0.00001
|
NM_018941.4(CLN8):c.9T>C (p.Pro3=)
|
rs773997032
|
0.00001
|
NM_025219.3(DNAJC5):c.108G>C (p.Arg36=)
|
rs774703054
|
0.00001
|
NM_025219.3(DNAJC5):c.122A>G (p.Lys41Arg)
|
rs528096976
|
0.00001
|
NM_025219.3(DNAJC5):c.126T>C (p.Tyr42=)
|
rs775734607
|
0.00001
|
NM_025219.3(DNAJC5):c.159C>T (p.Ala53=)
|
rs779503067
|
0.00001
|
NM_025219.3(DNAJC5):c.160G>A (p.Ala54Thr)
|
rs202015608
|
0.00001
|
NM_025219.3(DNAJC5):c.161C>T (p.Ala54Val)
|
rs754887788
|
0.00001
|
NM_025219.3(DNAJC5):c.187G>A (p.Ala63Thr)
|
rs796052411
|
0.00001
|
NM_025219.3(DNAJC5):c.192C>T (p.His64=)
|
rs1351269667
|
0.00001
|
NM_025219.3(DNAJC5):c.203C>T (p.Thr68Met)
|
rs1382120578
|
0.00001
|
NM_025219.3(DNAJC5):c.207C>T (p.Asp69=)
|
rs760881795
|
0.00001
|
NM_025219.3(DNAJC5):c.208G>A (p.Ala70Thr)
|
rs769269113
|
0.00001
|
NM_025219.3(DNAJC5):c.225C>T (p.Ile75=)
|
rs376163421
|
0.00001
|
NM_025219.3(DNAJC5):c.25C>T (p.Leu9=)
|
rs1184661048
|
0.00001
|
NM_025219.3(DNAJC5):c.297C>T (p.Phe99=)
|
rs776598152
|
0.00001
|
NM_025219.3(DNAJC5):c.306C>T (p.Ser102=)
|
rs770247745
|
0.00001
|
NM_025219.3(DNAJC5):c.31A>G (p.Thr11Ala)
|
rs796052408
|
0.00001
|
NM_025219.3(DNAJC5):c.321+14G>A
|
rs367766641
|
0.00001
|
NM_025219.3(DNAJC5):c.321+8C>T
|
rs773607766
|
0.00001
|
NM_025219.3(DNAJC5):c.321+9G>A
|
rs763367010
|
0.00001
|
NM_025219.3(DNAJC5):c.322-7C>T
|
rs765086324
|
0.00001
|
NM_025219.3(DNAJC5):c.339C>T (p.Cys113=)
|
rs886043295
|
0.00001
|
NM_025219.3(DNAJC5):c.351G>A (p.Thr117=)
|
rs775067598
|
0.00001
|
NM_025219.3(DNAJC5):c.370T>G (p.Cys124Gly)
|
rs373850027
|
0.00001
|
NM_025219.3(DNAJC5):c.429C>T (p.Gly143=)
|
rs753956759
|
0.00001
|
NM_025219.3(DNAJC5):c.46T>C (p.Leu16=)
|
rs371819808
|
0.00001
|
NM_025219.3(DNAJC5):c.480G>A (p.Gln160=)
|
rs1358914493
|
0.00001
|
NM_025219.3(DNAJC5):c.493+10C>T
|
rs751404516
|
0.00001
|
NM_025219.3(DNAJC5):c.493+11G>A
|
rs760774827
|
0.00001
|
NM_025219.3(DNAJC5):c.494-17G>A
|
rs1433329405
|
0.00001
|
NM_025219.3(DNAJC5):c.494-18T>C
|
rs755327268
|
0.00001
|
NM_025219.3(DNAJC5):c.507G>A (p.Thr169=)
|
rs748875387
|
0.00001
|
NM_025219.3(DNAJC5):c.555A>G (p.Thr185=)
|
rs1437414625
|
0.00001
|
NM_025219.3(DNAJC5):c.55G>A (p.Val19Ile)
|
rs981499477
|
0.00001
|
NM_025219.3(DNAJC5):c.561C>T (p.Asp187=)
|
rs776807695
|
0.00001
|
NM_025219.3(DNAJC5):c.58C>T (p.Leu20Phe)
|
rs796052409
|
0.00001
|
NM_025219.3(DNAJC5):c.593A>G (p.Asn198Ser)
|
rs778299599
|
0.00001
|
NM_025219.3(DNAJC5):c.60T>C (p.Leu20=)
|
rs745419250
|
0.00001
|
NM_025219.3(DNAJC5):c.76G>A (p.Ala26Thr)
|
rs753722773
|
0.00001
|
NM_025219.3(DNAJC5):c.7G>C (p.Asp3His)
|
rs887921248
|
0.00001
|
NM_025219.3(DNAJC5):c.80C>T (p.Thr27Ile)
|
rs1198430134
|
0.00001
|
NC_000008.10:g.(?_1719201)_(1728753_?)dup
|
|
|
NC_000008.10:g.(?_1719221)_(1728733_?)dup
|
|
|
NC_000008.10:g.(?_1719221)_(1905429_?)del
|
|
|
NC_000008.11:g.(?_1771035)_(1780587_?)del
|
|
|
NC_000008.11:g.(?_1771045)_(1780577_?)del
|
|
|
NC_000011.9:g.(?_1774733)_(1778806_?)del
|
|
|
NC_000011.9:g.(?_1774733)_(1778806_?)dup
|
|
|
NC_000011.9:g.(?_1774733)_(1785089_?)del
|
|
|
NC_000011.9:g.(?_1774733)_(1785089_?)dup
|
|
|
NC_000011.9:g.(?_1774733)_(2019125_?)dup
|
|
|
NC_000011.9:g.(?_1785002)_(1785089_?)del
|
|
|
NC_000011.9:g.(?_532616)_(2906985_?)dup
|
|
|
NC_000011.9:g.(?_5709028)_(6640651_?)dup
|
|
|
NC_000013.10:g.(?_77566087)_(77575104_?)dup
|
|
|
NC_000013.10:g.(?_77566087)_(78492734_?)del
|
|
|
NC_000013.11:g.(?_76991932)_(77000989_?)del
|
|
|
NC_000013.11:g.(?_76991932)_(77000989_?)dup
|
|
|
NC_000013.11:g.(?_76995053)_(76995238_?)dup
|
|
|
NC_000013.11:g.(?_76995053)_(76996137_?)del
|
|
|
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.76991974G>C
|
rs1037355085
|
|
NC_000013.11:g.76991982T>C
|
rs755587208
|
|
NC_000013.11:g.76991986G>A
|
rs1465531119
|
|
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.76992025T>A
|
rs1182554801
|
|
NC_000013.11:g.76992026G>T
|
rs2154034204
|
|
NC_000013.11:g.76992027G>C
|
rs2154034205
|
|
NC_000013.11:g.76992029G>C
|
rs2154034206
|
|
NC_000013.11:g.76992036C>T
|
rs2154034208
|
|
NC_000013.11:g.76992041G>A
|
rs2154034210
|
|
NC_000013.11:g.76992041_76992352del
|
rs2154034211
|
|
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.76992063G>A
|
rs1351624850
|
|
NC_000013.11:g.76992065C>G
|
rs2154034221
|
|
NC_000013.11:g.76992066T>A
|
rs1223625391
|
|
NC_000013.11:g.76992066T>G
|
rs1223625391
|
|
NC_000013.11:g.76992067C>T
|
rs61504484
|
|
NC_000013.11:g.76992068G>T
|
rs779934262
|
|
NC_000015.10:g.(?_68208120)_(68229604_?)del
|
|
|
NC_000015.10:g.(?_68229482)_(68229604_?)del
|
|
|
NC_000015.10:g.(?_68229492)_(68229594_?)del
|
|
|
NC_000015.9:g.(?_66161924)_(69018313_?)dup
|
|
|
NC_000015.9:g.(?_68499209)_(68500605_?)del
|
|
|
NC_000015.9:g.(?_68500458)_(68504221_?)del
|
|
|
NC_000015.9:g.(?_68500468)_(68504211_?)del
|
|
|
NC_000015.9:g.(?_68500478)_(68521922_?)dup
|
|
|
NC_000015.9:g.68504037_68504039delGAT
|
rs121908080
|
|
NC_000016.10:g.(?_28475343)_(28477877_?)dup
|
|
|
NC_000016.10:g.(?_28475343)_(28484138_?)del
|
|
|
NC_000016.10:g.(?_28475343)_(28486650_?)del
|
|
|
NC_000016.10:g.(?_28477496)_(28491779_?)del
|
|
|
NC_000016.10:g.(?_28483996)_(28484128_?)del
|
|
|
NC_000016.10:g.(?_28485965)_(28486930_?)del
|
|
|
NC_000016.10:g.(?_28486327)_(28486670_?)del
|
|
|
NC_000016.10:g.(?_28486347)_(28486650_?)del
|
|
|
NC_000016.10:g.(?_28487456)_(28595930_?)del
|
|
|
NC_000016.9:g.(?_27441393)_(29001333_?)del
|
|
|
NC_000016.9:g.(?_28484798)_28497560del
|
|
|
NC_000016.9:g.(?_28486664)_(28489218_?)dup
|
|
|
NC_000016.9:g.(?_28486664)_(28503100_?)dup
|
|
|
NC_000016.9:g.(?_28488817)_(28489218_?)dup
|
|
|
NC_000016.9:g.(?_28488827)_(28489208_?)del
|
|
|
NC_000016.9:g.(?_28488827)_(28950294_?)del
|
|
|
NC_000016.9:g.(?_28488837)_(28489218_?)dup
|
|
|
NC_000016.9:g.(?_28488837)_(28495459_?)del
|
|
|
NC_000016.9:g.(?_28488837)_(28495459_?)dup
|
|
|
NC_000016.9:g.(?_28493416)_(28494003_?)del
|
|
|
NC_000016.9:g.(?_28493426)_(28493993_?)del
|
|
|
NC_000016.9:g.(?_28495307)_(28495459_?)del
|
|
|
NC_000016.9:g.(?_28495317)_(28500717_?)del
|
|
|
NC_000016.9:g.(?_28499892)_(28503100_?)dup
|
|
|
NC_000016.9:g.(?_28499902)_(28503090_?)dup
|
|
|
NC_000016.9:g.(?_28502803)_(28503080_?)del
|
|
|
NC_000020.10:g.(?_62542275)_(62559715_?)del
|
|
|
NC_000020.10:g.(?_62559679)_(62562941_?)dup
|
|
|
NC_000020.10:g.(?_62559688)_(62567384_?)dup
|
|
|
NC_000020.11:g.(?_63928326)_(63931588_?)del
|
|
|
NM_000391.4(TPP1):c.763G>C (p.Ala255Pro)
|
rs1356628460
|
|
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys)
|
rs386833694
|
|
NM_001042432.2(CLN3):c.1003T>C (p.Ser335Pro)
|
rs1567257016
|
|
NM_001042432.2(CLN3):c.1017C>T (p.Cys339=)
|
rs768479701
|
|
NM_001042432.2(CLN3):c.1019G>A (p.Cys340Tyr)
|
rs1174122334
|
|
NM_001042432.2(CLN3):c.101A>T (p.His34Leu)
|
|
|
NM_001042432.2(CLN3):c.1023C>T (p.Arg341=)
|
rs2141702659
|
|
NM_001042432.2(CLN3):c.1032C>T (p.Phe344=)
|
|
|
NM_001042432.2(CLN3):c.1035C>T (p.Thr345=)
|
rs2141702596
|
|
NM_001042432.2(CLN3):c.1043T>C (p.Leu348Pro)
|
|
|
NM_001042432.2(CLN3):c.1046C>T (p.Ala349Val)
|
rs2141702560
|
|
NM_001042432.2(CLN3):c.1048C>T (p.Leu350=)
|
rs1319505147
|
|
NM_001042432.2(CLN3):c.1048del (p.Leu350fs)
|
rs386833696
|
|
NM_001042432.2(CLN3):c.1050G>C (p.Leu350=)
|
|
|
NM_001042432.2(CLN3):c.1050_1056+19del
|
|
|
NM_001042432.2(CLN3):c.1056+10C>G
|
rs2141702486
|
|
NM_001042432.2(CLN3):c.1056+12C>G
|
|
|
NM_001042432.2(CLN3):c.1056+16C>A
|
|
|
NM_001042432.2(CLN3):c.1056+16C>T
|
|
|
NM_001042432.2(CLN3):c.1056+18C>T
|
|
|
NM_001042432.2(CLN3):c.1056+1G>A
|
|
|
NM_001042432.2(CLN3):c.1056+1G>T
|
rs1217725909
|
|
NM_001042432.2(CLN3):c.1056+20C>T
|
|
|
NM_001042432.2(CLN3):c.1056+3A>C
|
rs386833698
|
|
NM_001042432.2(CLN3):c.1056+5C>A
|
|
|
NM_001042432.2(CLN3):c.1056+6A>G
|
rs2141702501
|
|
NM_001042432.2(CLN3):c.1056G>T (p.Gln352His)
|
rs386833699
|
|
NM_001042432.2(CLN3):c.1057-11C>A
|
|
|
NM_001042432.2(CLN3):c.1057-11C>G
|
rs189498501
|
|
NM_001042432.2(CLN3):c.1057-11C>T
|
rs189498501
|
|
NM_001042432.2(CLN3):c.1057-12C>T
|
|
|
NM_001042432.2(CLN3):c.1057-14C>A
|
rs773692029
|
|
NM_001042432.2(CLN3):c.1057-14C>G
|
|
|
NM_001042432.2(CLN3):c.1057-14C>T
|
|
|
NM_001042432.2(CLN3):c.1057-17T>A
|
|
|
NM_001042432.2(CLN3):c.1057-18C>A
|
rs554430803
|
|
NM_001042432.2(CLN3):c.1057-18C>T
|
rs554430803
|
|
NM_001042432.2(CLN3):c.1057-19C>T
|
|
|
NM_001042432.2(CLN3):c.1057-1G>A
|
|
|
NM_001042432.2(CLN3):c.1057-2A>G
|
rs1218568487
|
|
NM_001042432.2(CLN3):c.1057-5C>G
|
|
|
NM_001042432.2(CLN3):c.1057-9del
|
rs1288269632
|
|
NM_001042432.2(CLN3):c.1058G>A (p.Cys353Tyr)
|
|
|
NM_001042432.2(CLN3):c.1058G>T (p.Cys353Phe)
|
|
|
NM_001042432.2(CLN3):c.1059C>A (p.Cys353Ter)
|
rs1057516677
|
|
NM_001042432.2(CLN3):c.105G>A (p.Trp35Ter)
|
rs386833700
|
|
NM_001042432.2(CLN3):c.105del (p.His34_Trp35insTer)
|
rs2141721909
|
|
NM_001042432.2(CLN3):c.1065C>T (p.Asn355=)
|
rs1567254120
|
|
NM_001042432.2(CLN3):c.1069G>T (p.Val357Leu)
|
rs1567254103
|
|
NM_001042432.2(CLN3):c.1071G>A (p.Val357=)
|
|
|
NM_001042432.2(CLN3):c.1071G>T (p.Val357=)
|
rs146467602
|
|
NM_001042432.2(CLN3):c.1075del (p.Leu359fs)
|
rs2046023126
|
|
NM_001042432.2(CLN3):c.1084G>A (p.Asp362Asn)
|
rs2046022965
|
|
NM_001042432.2(CLN3):c.1086C>T (p.Asp362=)
|
rs376907245
|
|
NM_001042432.2(CLN3):c.1088T>G (p.Val363Gly)
|
|
|
NM_001042432.2(CLN3):c.1089G>T (p.Val363=)
|
rs2141694310
|
|
NM_001042432.2(CLN3):c.1096G>A (p.Gly366Ser)
|
rs772209464
|
|
NM_001042432.2(CLN3):c.1097G>T (p.Gly366Val)
|
rs371214018
|
|
NM_001042432.2(CLN3):c.1099T>C (p.Phe367Leu)
|
|
|
NM_001042432.2(CLN3):c.1107A>C (p.Pro369=)
|
rs2141694275
|
|
NM_001042432.2(CLN3):c.1107A>G (p.Pro369=)
|
|
|
NM_001042432.2(CLN3):c.1108A>G (p.Ser370Gly)
|
rs2141694271
|
|
NM_001042432.2(CLN3):c.1110C>T (p.Ser370=)
|
|
|
NM_001042432.2(CLN3):c.1113C>T (p.Ile371=)
|
rs2141694259
|
|
NM_001042432.2(CLN3):c.1115_1118dup (p.Val374fs)
|
|
|
NM_001042432.2(CLN3):c.1117C>T (p.Leu373Phe)
|
|
|
NM_001042432.2(CLN3):c.111C>G (p.Asn37Lys)
|
|
|
NM_001042432.2(CLN3):c.1121T>C (p.Val374Ala)
|
rs1596619733
|
|
NM_001042432.2(CLN3):c.1122C>T (p.Val374=)
|
|
|
NM_001042432.2(CLN3):c.1125C>T (p.Phe375=)
|
|
|
NM_001042432.2(CLN3):c.1126C>T (p.Leu376=)
|
rs2141694207
|
|
NM_001042432.2(CLN3):c.1128G>A (p.Leu376=)
|
|
|
NM_001042432.2(CLN3):c.1128G>T (p.Leu376=)
|
|
|
NM_001042432.2(CLN3):c.1137G>C (p.Leu379=)
|
|
|
NM_001042432.2(CLN3):c.1138T>C (p.Tyr380His)
|
|
|
NM_001042432.2(CLN3):c.1143G>A (p.Glu381=)
|
|
|
NM_001042432.2(CLN3):c.1146G>T (p.Gly382=)
|
rs1567253962
|
|
NM_001042432.2(CLN3):c.1147C>T (p.Leu383Phe)
|
|
|
NM_001042432.2(CLN3):c.1149C>T (p.Leu383=)
|
rs2046021695
|
|
NM_001042432.2(CLN3):c.114G>A (p.Ala38=)
|
rs1596567632
|
|
NM_001042432.2(CLN3):c.1150C>T (p.Leu384=)
|
rs1057521416
|
|
NM_001042432.2(CLN3):c.1152G>A (p.Leu384=)
|
|
|
NM_001042432.2(CLN3):c.1160C>T (p.Ala387Val)
|
rs2141694140
|
|
NM_001042432.2(CLN3):c.1161A>G (p.Ala387=)
|
rs2141694138
|
|
NM_001042432.2(CLN3):c.1162G>A (p.Ala388Thr)
|
|
|
NM_001042432.2(CLN3):c.1164C>A (p.Ala388=)
|
rs772463617
|
|
NM_001042432.2(CLN3):c.1166A>T (p.Tyr389Phe)
|
|
|
NM_001042432.2(CLN3):c.1173C>T (p.Asn391=)
|
rs1334200732
|
|
NM_001042432.2(CLN3):c.1178T>A (p.Phe393Tyr)
|
rs2141694088
|
|
NM_001042432.2(CLN3):c.117G>A (p.Val39=)
|
rs2141721859
|
|
NM_001042432.2(CLN3):c.1181A>G (p.His394Arg)
|
|
|
NM_001042432.2(CLN3):c.1183A>G (p.Asn395Asp)
|
rs2141694073
|
|
NM_001042432.2(CLN3):c.1184A>T (p.Asn395Ile)
|
rs2046020900
|
|
NM_001042432.2(CLN3):c.1185C>T (p.Asn395=)
|
rs747968377
|
|
NM_001042432.2(CLN3):c.1189G>A (p.Ala397Thr)
|
|
|
NM_001042432.2(CLN3):c.1192C>T (p.Leu398=)
|
|
|
NM_001042432.2(CLN3):c.1194G>A (p.Leu398=)
|
|
|
NM_001042432.2(CLN3):c.1197+10G>A
|
rs2141693994
|
|
NM_001042432.2(CLN3):c.1197+11G>T
|
|
|
NM_001042432.2(CLN3):c.1197+13C>A
|
rs370103287
|
|
NM_001042432.2(CLN3):c.1197+13C>G
|
rs370103287
|
|
NM_001042432.2(CLN3):c.1197+15G>T
|
|
|
NM_001042432.2(CLN3):c.1197+16G>A
|
|
|
NM_001042432.2(CLN3):c.1197+17C>G
|
rs2046020001
|
|
NM_001042432.2(CLN3):c.1197+18A>G
|
|
|
NM_001042432.2(CLN3):c.1197+1G>A
|
|
|
NM_001042432.2(CLN3):c.1197+8T>C
|
rs587780895
|
|
NM_001042432.2(CLN3):c.1198-10G>A
|
rs750043205
|
|
NM_001042432.2(CLN3):c.1198-10G>T
|
rs750043205
|
|
NM_001042432.2(CLN3):c.1198-16C>G
|
|
|
NM_001042432.2(CLN3):c.1198-17G>A
|
rs749612121
|
|
NM_001042432.2(CLN3):c.1198-19C>G
|
|
|
NM_001042432.2(CLN3):c.1198-19C>T
|
|
|
NM_001042432.2(CLN3):c.1198-2A>C
|
rs2141693746
|
|
NM_001042432.2(CLN3):c.1198-3C>T
|
rs2046017696
|
|
NM_001042432.2(CLN3):c.1198-4C>G
|
|
|
NM_001042432.2(CLN3):c.1198-7C>T
|
rs1046047290
|
|
NM_001042432.2(CLN3):c.1198-8C>A
|
|
|
NM_001042432.2(CLN3):c.1198-9C>T
|
rs2141693767
|
|
NM_001042432.2(CLN3):c.1200C>A (p.Thr400=)
|
rs754270222
|
|
NM_001042432.2(CLN3):c.1204G>A (p.Asp402Asn)
|
|
|
NM_001042432.2(CLN3):c.120C>G (p.Gly40=)
|
|
|
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)
|
rs146610181
|
|
NM_001042432.2(CLN3):c.1210C>T (p.His404Tyr)
|
rs146610181
|
|
NM_001042432.2(CLN3):c.1215G>C (p.Arg405=)
|
rs2141693673
|
|
NM_001042432.2(CLN3):c.1231G>T (p.Ala411Ser)
|
|
|
NM_001042432.2(CLN3):c.1236C>T (p.Thr412=)
|
|
|
NM_001042432.2(CLN3):c.1246_1247dup (p.Asp416fs)
|
|
|
NM_001042432.2(CLN3):c.125+13A>C
|
rs2141721778
|
|
NM_001042432.2(CLN3):c.125+16C>T
|
rs2141721774
|
|
NM_001042432.2(CLN3):c.125+19C>A
|
|
|
NM_001042432.2(CLN3):c.125+1G>C
|
rs775616181
|
|
NM_001042432.2(CLN3):c.125+9C>A
|
|
|
NM_001042432.2(CLN3):c.125+9C>G
|
rs770630584
|
|
NM_001042432.2(CLN3):c.126-11G>A
|
|
|
NM_001042432.2(CLN3):c.126-11G>C
|
|
|
NM_001042432.2(CLN3):c.126-14C>T
|
|
|
NM_001042432.2(CLN3):c.126-16G>A
|
|
|
NM_001042432.2(CLN3):c.126-18C>T
|
|
|
NM_001042432.2(CLN3):c.126-4C>A
|
rs1555469191
|
|
NM_001042432.2(CLN3):c.126-9T>C
|
|
|
NM_001042432.2(CLN3):c.1263C>T (p.Ser421=)
|
rs2141693533
|
|
NM_001042432.2(CLN3):c.1265T>C (p.Leu422Pro)
|
rs2046014482
|
|
NM_001042432.2(CLN3):c.1266G>A (p.Leu422=)
|
|
|
NM_001042432.2(CLN3):c.1267dup (p.Ser423fs)
|
|
|
NM_001042432.2(CLN3):c.126G>A (p.Trp42Ter)
|
|
|
NM_001042432.2(CLN3):c.1272G>A (p.Gly424=)
|
rs2141693473
|
|
NM_001042432.2(CLN3):c.1276C>G (p.Leu426Val)
|
rs1596619187
|
|
NM_001042432.2(CLN3):c.127C>T (p.Leu43=)
|
rs2141718228
|
|
NM_001042432.2(CLN3):c.1284G>A (p.Leu428=)
|
rs1178380195
|
|
NM_001042432.2(CLN3):c.1285C>T (p.Pro429Ser)
|
rs1433950864
|
|
NM_001042432.2(CLN3):c.1288C>T (p.Leu430=)
|
rs2141693434
|
|
NM_001042432.2(CLN3):c.1291C>T (p.His431Tyr)
|
rs759510380
|
|
NM_001042432.2(CLN3):c.1293T>C (p.His431=)
|
|
|
NM_001042432.2(CLN3):c.1302C>A (p.Leu434=)
|
rs1264449890
|
|
NM_001042432.2(CLN3):c.1316G>A (p.Ter439=)
|
rs2046012606
|
|
NM_001042432.2(CLN3):c.136C>G (p.Leu46Val)
|
|
|
NM_001042432.2(CLN3):c.141del (p.Leu46_Cys47insTer)
|
rs1064795153
|
|
NM_001042432.2(CLN3):c.143A>G (p.Asn48Ser)
|
|
|
NM_001042432.2(CLN3):c.143A>T (p.Asn48Ile)
|
|
|
NM_001042432.2(CLN3):c.145A>C (p.Asn49His)
|
|
|
NM_001042432.2(CLN3):c.147C>G (p.Asn49Lys)
|
rs571216643
|
|
NM_001042432.2(CLN3):c.156T>C (p.Tyr52=)
|
rs758454511
|
|
NM_001042432.2(CLN3):c.159G>A (p.Val53=)
|
rs2046275556
|
|
NM_001042432.2(CLN3):c.15A>T (p.Ala5=)
|
rs2141722763
|
|
NM_001042432.2(CLN3):c.162G>A (p.Val54=)
|
|
|
NM_001042432.2(CLN3):c.162G>T (p.Val54=)
|
|
|
NM_001042432.2(CLN3):c.166C>T (p.Leu56=)
|
|
|
NM_001042432.2(CLN3):c.170G>A (p.Ser57Asn)
|
|
|
NM_001042432.2(CLN3):c.177C>T (p.Ala59=)
|
rs1266595846
|
|
NM_001042432.2(CLN3):c.18C>A (p.Gly6=)
|
rs2141722748
|
|
NM_001042432.2(CLN3):c.18del (p.Ser7fs)
|
|
|
NM_001042432.2(CLN3):c.191G>A (p.Ser64Asn)
|
rs2046274351
|
|
NM_001042432.2(CLN3):c.196A>C (p.Lys66Gln)
|
|
|
NM_001042432.2(CLN3):c.1A>C (p.Met1Leu)
|
rs386833708
|
|
NM_001042432.2(CLN3):c.204A>G (p.Thr68=)
|
rs1001999703
|
|
NM_001042432.2(CLN3):c.206C>G (p.Ser69Trp)
|
rs769840061
|
|
NM_001042432.2(CLN3):c.213C>T (p.Asn71=)
|
rs1460944418
|
|
NM_001042432.2(CLN3):c.214_216del (p.Gln72del)
|
rs1473036975
|
|
NM_001042432.2(CLN3):c.218G>A (p.Ser73Asn)
|
|
|
NM_001042432.2(CLN3):c.21G>C (p.Ser7=)
|
rs1313480778
|
|
NM_001042432.2(CLN3):c.222+11C>G
|
|
|
NM_001042432.2(CLN3):c.222+13C>T
|
|
|
NM_001042432.2(CLN3):c.222+14T>A
|
|
|
NM_001042432.2(CLN3):c.222+17C>T
|
|
|
NM_001042432.2(CLN3):c.222+18A>G
|
|
|
NM_001042432.2(CLN3):c.222+19C>T
|
|
|
NM_001042432.2(CLN3):c.222+1G>A
|
|
|
NM_001042432.2(CLN3):c.222+20C>T
|
|
|
NM_001042432.2(CLN3):c.222+5G>C
|
rs386833711
|
|
NM_001042432.2(CLN3):c.222+7G>A
|
|
|
NM_001042432.2(CLN3):c.222+9C>G
|
rs2046272964
|
|
NM_001042432.2(CLN3):c.222+9CT[2]
|
rs1064794997
|
|
NM_001042432.2(CLN3):c.223-10C>G
|
|
|
NM_001042432.2(CLN3):c.223-15C>T
|
|
|
NM_001042432.2(CLN3):c.223-16G>A
|
|
|
NM_001042432.2(CLN3):c.223-18A>G
|
|
|
NM_001042432.2(CLN3):c.223-18A>T
|
|
|
NM_001042432.2(CLN3):c.223-6del
|
|
|
NM_001042432.2(CLN3):c.223-7C>T
|
rs1489180288
|
|
NM_001042432.2(CLN3):c.223-8C>T
|
rs973448262
|
|
NM_001042432.2(CLN3):c.228C>T (p.Asp76=)
|
|
|
NM_001042432.2(CLN3):c.233dup (p.Thr80fs)
|
rs386833712
|
|
NM_001042432.2(CLN3):c.236C>T (p.Pro79Leu)
|
rs1596564333
|
|
NM_001042432.2(CLN3):c.237A>G (p.Pro79=)
|
rs2141717144
|
|
NM_001042432.2(CLN3):c.238A>G (p.Thr80Ala)
|
rs150348015
|
|
NM_001042432.2(CLN3):c.23G>A (p.Arg8Gln)
|
|
|
NM_001042432.2(CLN3):c.243G>C (p.Pro81=)
|
rs779165392
|
|
NM_001042432.2(CLN3):c.248C>T (p.Pro83Leu)
|
|
|
NM_001042432.2(CLN3):c.251A>G (p.His84Arg)
|
rs2046262515
|
|
NM_001042432.2(CLN3):c.255C>T (p.Asn85=)
|
rs1173380097
|
|
NM_001042432.2(CLN3):c.258C>T (p.Ser86=)
|
rs1596564281
|
|
NM_001042432.2(CLN3):c.260C>T (p.Ser87Leu)
|
rs2141717001
|
|
NM_001042432.2(CLN3):c.261A>T (p.Ser87=)
|
rs2046262190
|
|
NM_001042432.2(CLN3):c.264A>G (p.Ser88=)
|
rs751321507
|
|
NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter)
|
rs386833713
|
|
NM_001042432.2(CLN3):c.266G>T (p.Arg89Leu)
|
rs766287694
|
|
NM_001042432.2(CLN3):c.270T>C (p.Phe90=)
|
rs145520962
|
|
NM_001042432.2(CLN3):c.270T>G (p.Phe90Leu)
|
rs145520962
|
|
NM_001042432.2(CLN3):c.273C>T (p.Asp91=)
|
rs1213121886
|
|
NM_001042432.2(CLN3):c.276C>G (p.Cys92Trp)
|
|
|
NM_001042432.2(CLN3):c.278A>G (p.Asn93Ser)
|
rs140409296
|
|
NM_001042432.2(CLN3):c.283G>A (p.Val95Ile)
|
rs763659524
|
|
NM_001042432.2(CLN3):c.288T>A (p.Ser96=)
|
rs1555469051
|
|
NM_001042432.2(CLN3):c.293C>A (p.Ala98Asp)
|
rs1361279384
|
|
NM_001042432.2(CLN3):c.293C>T (p.Ala98Val)
|
|
|
NM_001042432.2(CLN3):c.294+10C>G
|
rs367693072
|
|
NM_001042432.2(CLN3):c.294+10C>T
|
rs367693072
|
|
NM_001042432.2(CLN3):c.294+17C>T
|
|
|
NM_001042432.2(CLN3):c.294+4C>T
|
|
|
NM_001042432.2(CLN3):c.294+7A>G
|
rs2141716762
|
|
NM_001042432.2(CLN3):c.294+8C>T
|
|
|
NM_001042432.2(CLN3):c.294+8_294+10inv
|
|
|
NM_001042432.2(CLN3):c.294+9T>C
|
|
|
NM_001042432.2(CLN3):c.295-12C>T
|
rs2141715293
|
|
NM_001042432.2(CLN3):c.295-13T>A
|
rs796052333
|
|
NM_001042432.2(CLN3):c.295-17C>G
|
rs375311626
|
|
NM_001042432.2(CLN3):c.295-17del
|
|
|
NM_001042432.2(CLN3):c.295-18T>C
|
|
|
NM_001042432.2(CLN3):c.295-19C>T
|
|
|
NM_001042432.2(CLN3):c.295-5C>T
|
|
|
NM_001042432.2(CLN3):c.295-7G>A
|
|
|
NM_001042432.2(CLN3):c.295-7G>T
|
|
|
NM_001042432.2(CLN3):c.29G>A (p.Arg10His)
|
|
|
NM_001042432.2(CLN3):c.304C>G (p.Leu102Val)
|
rs1167562278
|
|
NM_001042432.2(CLN3):c.306G>A (p.Leu102=)
|
|
|
NM_001042432.2(CLN3):c.307G>A (p.Ala103Thr)
|
|
|
NM_001042432.2(CLN3):c.30del (p.Ser12fs)
|
rs2141722729
|
|
NM_001042432.2(CLN3):c.312C>T (p.Asp104=)
|
rs1596563212
|
|
NM_001042432.2(CLN3):c.313A>T (p.Ile105Phe)
|
|
|
NM_001042432.2(CLN3):c.317dup (p.Thr108fs)
|
|
|
NM_001042432.2(CLN3):c.320C>G (p.Pro107Arg)
|
|
|
NM_001042432.2(CLN3):c.320C>T (p.Pro107Leu)
|
rs1231056238
|
|
NM_001042432.2(CLN3):c.321C>A (p.Pro107=)
|
|
|
NM_001042432.2(CLN3):c.322A>G (p.Thr108Ala)
|
rs1302804526
|
|
NM_001042432.2(CLN3):c.323C>T (p.Thr108Ile)
|
|
|
NM_001042432.2(CLN3):c.324A>G (p.Thr108=)
|
rs2046245530
|
|
NM_001042432.2(CLN3):c.326T>C (p.Leu109Pro)
|
|
|
NM_001042432.2(CLN3):c.354C>T (p.Gly118=)
|
|
|
NM_001042432.2(CLN3):c.358C>A (p.His120Asn)
|
rs145749864
|
|
NM_001042432.2(CLN3):c.358C>T (p.His120Tyr)
|
|
|
NM_001042432.2(CLN3):c.360C>T (p.His120=)
|
|
|
NM_001042432.2(CLN3):c.362T>G (p.Leu121Arg)
|
rs2046244488
|
|
NM_001042432.2(CLN3):c.366G>A (p.Leu122=)
|
|
|
NM_001042432.2(CLN3):c.367C>T (p.Pro123Ser)
|
rs1567261702
|
|
NM_001042432.2(CLN3):c.36G>C (p.Ser12=)
|
|
|
NM_001042432.2(CLN3):c.370dup (p.Tyr124fs)
|
rs386833715
|
|
NM_001042432.2(CLN3):c.374+14T>C
|
rs528885790
|
|
NM_001042432.2(CLN3):c.374+15A>G
|
rs1160399050
|
|
NM_001042432.2(CLN3):c.374+16G>T
|
rs2141714919
|
|
NM_001042432.2(CLN3):c.374+1G>A
|
rs2046243804
|
|
NM_001042432.2(CLN3):c.374+7G>A
|
rs2141714955
|
|
NM_001042432.2(CLN3):c.374+7G>C
|
rs2141714955
|
|
NM_001042432.2(CLN3):c.374G>A (p.Ser125Asn)
|
rs386833716
|
|
NM_001042432.2(CLN3):c.375-11C>A
|
|
|
NM_001042432.2(CLN3):c.375-11C>T
|
rs1039039106
|
|
NM_001042432.2(CLN3):c.375-13C>A
|
rs747701616
|
|
NM_001042432.2(CLN3):c.375-19_375-4dup
|
rs755313503
|
|
NM_001042432.2(CLN3):c.375-2A>T
|
rs2046240661
|
|
NM_001042432.2(CLN3):c.375-4del
|
rs2141714611
|
|
NM_001042432.2(CLN3):c.375-5C>G
|
rs751293136
|
|
NM_001042432.2(CLN3):c.375-5del
|
|
|
NM_001042432.2(CLN3):c.375-5dup
|
|
|
NM_001042432.2(CLN3):c.375-6C>A
|
|
|
NM_001042432.2(CLN3):c.375-8C>T
|
rs2141714646
|
|
NM_001042432.2(CLN3):c.378C>T (p.Pro126=)
|
rs1596562865
|
|
NM_001042432.2(CLN3):c.379del (p.Arg127fs)
|
rs386833717
|
|
NM_001042432.2(CLN3):c.37G>T (p.Asp13Tyr)
|
|
|
NM_001042432.2(CLN3):c.386_387delinsCT (p.Leu129Pro)
|
|
|
NM_001042432.2(CLN3):c.388G>A (p.Val130Ile)
|
rs764261700
|
|
NM_001042432.2(CLN3):c.388G>T (p.Val130Phe)
|
rs764261700
|
|
NM_001042432.2(CLN3):c.391A>G (p.Ser131Gly)
|
rs2046239997
|
|
NM_001042432.2(CLN3):c.392del (p.Ser131fs)
|
rs2141714500
|
|
NM_001042432.2(CLN3):c.393T>C (p.Ser131=)
|
rs794727850
|
|
NM_001042432.2(CLN3):c.396G>A (p.Gly132=)
|
|
|
NM_001042432.2(CLN3):c.397A>T (p.Ile133Phe)
|
rs1295659689
|
|
NM_001042432.2(CLN3):c.3G>A (p.Met1Ile)
|
|
|
NM_001042432.2(CLN3):c.400T>C (p.Cys134Arg)
|
rs386833719
|
|
NM_001042432.2(CLN3):c.403G>A (p.Ala135Thr)
|
rs1314360861
|
|
NM_001042432.2(CLN3):c.406G>T (p.Ala136Ser)
|
rs2046239467
|
|
NM_001042432.2(CLN3):c.411A>G (p.Gly137=)
|
rs2141714445
|
|
NM_001042432.2(CLN3):c.413del (p.Ser138fs)
|
|
|
NM_001042432.2(CLN3):c.414C>T (p.Ser138=)
|
rs772960606
|
|
NM_001042432.2(CLN3):c.419T>C (p.Val140Ala)
|
|
|
NM_001042432.2(CLN3):c.41C>T (p.Ser14Phe)
|
rs2141722690
|
|
NM_001042432.2(CLN3):c.420C>A (p.Val140=)
|
|
|
NM_001042432.2(CLN3):c.421C>G (p.Leu141Val)
|
rs2141714404
|
|
NM_001042432.2(CLN3):c.422T>C (p.Leu141Pro)
|
rs2046239033
|
|
NM_001042432.2(CLN3):c.423G>C (p.Leu141=)
|
rs1426849822
|
|
NM_001042432.2(CLN3):c.424del (p.Val142fs)
|
rs386833720
|
|
NM_001042432.2(CLN3):c.427G>A (p.Ala143Thr)
|
rs904694610
|
|
NM_001042432.2(CLN3):c.42C>A (p.Ser14=)
|
|
|
NM_001042432.2(CLN3):c.433T>C (p.Ser145Pro)
|
rs780814580
|
|
NM_001042432.2(CLN3):c.439T>G (p.Ser147Ala)
|
rs2141714357
|
|
NM_001042432.2(CLN3):c.43G>A (p.Glu15Lys)
|
|
|
NM_001042432.2(CLN3):c.43G>T (p.Glu15Ter)
|
rs1228953213
|
|
NM_001042432.2(CLN3):c.443_445del (p.Val148del)
|
rs752130042
|
|
NM_001042432.2(CLN3):c.447G>A (p.Gly149=)
|
|
|
NM_001042432.2(CLN3):c.450C>T (p.Thr150=)
|
|
|
NM_001042432.2(CLN3):c.451A>T (p.Ser151Cys)
|
rs2141714276
|
|
NM_001042432.2(CLN3):c.458G>A (p.Cys153Tyr)
|
rs750813350
|
|
NM_001042432.2(CLN3):c.46+10C>T
|
rs1596568060
|
|
NM_001042432.2(CLN3):c.46+11C>G
|
|
|
NM_001042432.2(CLN3):c.46+11C>T
|
rs1274196955
|
|
NM_001042432.2(CLN3):c.46+12C>A
|
|
|
NM_001042432.2(CLN3):c.46+12C>T
|
|
|
NM_001042432.2(CLN3):c.46+13G>T
|
rs532377265
|
|
NM_001042432.2(CLN3):c.46+14C>T
|
|
|
NM_001042432.2(CLN3):c.46+15C>T
|
|
|
NM_001042432.2(CLN3):c.46+16C>A
|
|
|
NM_001042432.2(CLN3):c.46+16C>T
|
|
|
NM_001042432.2(CLN3):c.46+1G>A
|
rs1057516343
|
|
NM_001042432.2(CLN3):c.46+5G>A
|
|
|
NM_001042432.2(CLN3):c.46+7A>G
|
rs2141722628
|
|
NM_001042432.2(CLN3):c.46+9T>C
|
|
|
NM_001042432.2(CLN3):c.460+10T>C
|
|
|
NM_001042432.2(CLN3):c.460+12G>A
|
|
|
NM_001042432.2(CLN3):c.460+12G>C
|
|
|
NM_001042432.2(CLN3):c.460+12G>T
|
|
|
NM_001042432.2(CLN3):c.460+16T>C
|
|
|
NM_001042432.2(CLN3):c.460+17G>A
|
|
|
NM_001042432.2(CLN3):c.460+1G>A
|
rs1397086223
|
|
NM_001042432.2(CLN3):c.460+20T>A
|
|
|
NM_001042432.2(CLN3):c.460+2T>G
|
|
|
NM_001042432.2(CLN3):c.460+7G>A
|
|
|
NM_001042432.2(CLN3):c.460+9G>A
|
rs2141714258
|
|
NM_001042432.2(CLN3):c.461-11C>G
|
|
|
NM_001042432.2(CLN3):c.461-19G>C
|
|
|
NM_001042432.2(CLN3):c.461-1G>A
|
rs386833722
|
|
NM_001042432.2(CLN3):c.461-2A>G
|
|
|
NM_001042432.2(CLN3):c.461-3C>G
|
rs181995380
|
|
NM_001042432.2(CLN3):c.461-3C>T
|
rs181995380
|
|
NM_001042432.2(CLN3):c.461-3del
|
rs766754807
|
|
NM_001042432.2(CLN3):c.461-3dup
|
|
|
NM_001042432.2(CLN3):c.461-4C>G
|
rs1006236175
|
|
NM_001042432.2(CLN3):c.461-5C>G
|
rs779793979
|
|
NM_001042432.2(CLN3):c.461-5C>T
|
rs779793979
|
|
NM_001042432.2(CLN3):c.461-6C>T
|
|
|
NM_001042432.2(CLN3):c.461-7C>T
|
rs1036844453
|
|
NM_001042432.2(CLN3):c.461-8C>A
|
rs897938562
|
|
NM_001042432.2(CLN3):c.466G>C (p.Val156Leu)
|
|
|
NM_001042432.2(CLN3):c.47-2A>T
|
|
|
NM_001042432.2(CLN3):c.47-4C>G
|
|
|
NM_001042432.2(CLN3):c.47-4C>T
|
rs1555469480
|
|
NM_001042432.2(CLN3):c.47-5C>G
|
|
|
NM_001042432.2(CLN3):c.47-7C>G
|
rs776361372
|
|
NM_001042432.2(CLN3):c.47-8T>C
|
rs1596567778
|
|
NM_001042432.2(CLN3):c.472G>A (p.Ala158Thr)
|
rs386833723
|
|
NM_001042432.2(CLN3):c.482C>T (p.Ser161Leu)
|
rs386833724
|
|
NM_001042432.2(CLN3):c.483A>G (p.Ser161=)
|
|
|
NM_001042432.2(CLN3):c.490C>G (p.Leu164Val)
|
|
|
NM_001042432.2(CLN3):c.492T>C (p.Leu164=)
|
|
|
NM_001042432.2(CLN3):c.497A>G (p.Glu166Gly)
|
rs2141712916
|
|
NM_001042432.2(CLN3):c.500T>A (p.Val167Asp)
|
rs1418465028
|
|
NM_001042432.2(CLN3):c.501C>T (p.Val167=)
|
rs2141712899
|
|
NM_001042432.2(CLN3):c.505T>G (p.Phe169Val)
|
rs1392387565
|
|
NM_001042432.2(CLN3):c.510C>T (p.Leu170=)
|
|
|
NM_001042432.2(CLN3):c.512C>T (p.Ser171Phe)
|
rs1401497994
|
|
NM_001042432.2(CLN3):c.513C>T (p.Ser171=)
|
rs1384593542
|
|
NM_001042432.2(CLN3):c.522C>T (p.Ala174=)
|
|
|
NM_001042432.2(CLN3):c.526T>C (p.Tyr176His)
|
rs1191755724
|
|
NM_001042432.2(CLN3):c.528C>T (p.Tyr176=)
|
|
|
NM_001042432.2(CLN3):c.530C>T (p.Pro177Leu)
|
|
|
NM_001042432.2(CLN3):c.533+11G>A
|
|
|
NM_001042432.2(CLN3):c.533+12G>A
|
|
|
NM_001042432.2(CLN3):c.533+12G>T
|
|
|
NM_001042432.2(CLN3):c.533+15C>T
|
|
|
NM_001042432.2(CLN3):c.533+19del
|
|
|
NM_001042432.2(CLN3):c.533+1G>C
|
rs386833728
|
|
NM_001042432.2(CLN3):c.533+3_533+10del
|
rs2141712782
|
|
NM_001042432.2(CLN3):c.533+6C>T
|
rs2141712792
|
|
NM_001042432.2(CLN3):c.534-17T>C
|
|
|
NM_001042432.2(CLN3):c.534-1G>C
|
|
|
NM_001042432.2(CLN3):c.534-20T>A
|
rs1209961868
|
|
NM_001042432.2(CLN3):c.534-2A>G
|
rs2046221354
|
|
NM_001042432.2(CLN3):c.534-5C>T
|
|
|
NM_001042432.2(CLN3):c.537C>G (p.Ala179=)
|
rs147667964
|
|
NM_001042432.2(CLN3):c.538G>C (p.Val180Leu)
|
rs202215629
|
|
NM_001042432.2(CLN3):c.53A>G (p.Glu18Gly)
|
rs2046314460
|
|
NM_001042432.2(CLN3):c.540G>T (p.Val180=)
|
|
|
NM_001042432.2(CLN3):c.54G>T (p.Glu18Asp)
|
rs2141722130
|
|
NM_001042432.2(CLN3):c.551G>A (p.Trp184Ter)
|
|
|
NM_001042432.2(CLN3):c.552G>A (p.Trp184Ter)
|
|
|
NM_001042432.2(CLN3):c.554C>T (p.Ser185Phe)
|
rs2046221010
|
|
NM_001042432.2(CLN3):c.558_559del (p.Gly187fs)
|
rs386833729
|
|
NM_001042432.2(CLN3):c.560G>A (p.Gly187Glu)
|
|
|
NM_001042432.2(CLN3):c.564T>C (p.Thr188=)
|
|
|
NM_001042432.2(CLN3):c.564T>G (p.Thr188=)
|
|
|
NM_001042432.2(CLN3):c.565G>A (p.Gly189Arg)
|
rs386833731
|
|
NM_001042432.2(CLN3):c.565G>C (p.Gly189Arg)
|
rs386833731
|
|
NM_001042432.2(CLN3):c.569dup (p.Ala191fs)
|
rs386833732
|
|
NM_001042432.2(CLN3):c.56C>T (p.Thr19Ile)
|
|
|
NM_001042432.2(CLN3):c.573T>C (p.Ala191=)
|
|
|
NM_001042432.2(CLN3):c.575G>A (p.Gly192Glu)
|
rs386833733
|
|
NM_001042432.2(CLN3):c.576G>T (p.Gly192=)
|
rs566516380
|
|
NM_001042432.2(CLN3):c.579G>A (p.Leu193=)
|
|
|
NM_001042432.2(CLN3):c.57C>A (p.Thr19=)
|
|
|
NM_001042432.2(CLN3):c.57C>G (p.Thr19=)
|
rs2141722111
|
|
NM_001042432.2(CLN3):c.582G>A (p.Leu194=)
|
rs386833734
|
|
NM_001042432.2(CLN3):c.582G>T (p.Leu194=)
|
rs386833734
|
|
NM_001042432.2(CLN3):c.589C>G (p.Leu197Val)
|
rs753705869
|
|
NM_001042432.2(CLN3):c.589C>T (p.Leu197=)
|
rs753705869
|
|
NM_001042432.2(CLN3):c.591G>C (p.Leu197=)
|
rs764082661
|
|
NM_001042432.2(CLN3):c.592del (p.Ser198fs)
|
rs2141712336
|
|
NM_001042432.2(CLN3):c.594C>T (p.Ser198=)
|
|
|
NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter)
|
rs267606737
|
|
NM_001042432.2(CLN3):c.598_601dup (p.Gly201fs)
|
|
|
NM_001042432.2(CLN3):c.599_615del (p.Leu200fs)
|
|
|
NM_001042432.2(CLN3):c.608C>T (p.Thr203Ile)
|
|
|
NM_001042432.2(CLN3):c.609C>G (p.Thr203=)
|
rs2141712284
|
|
NM_001042432.2(CLN3):c.60C>T (p.Val20=)
|
|
|
NM_001042432.2(CLN3):c.611A>C (p.Gln204Pro)
|
rs2141712276
|
|
NM_001042432.2(CLN3):c.618C>T (p.Gly206=)
|
rs2141712243
|
|
NM_001042432.2(CLN3):c.620T>C (p.Leu207Pro)
|
rs1411868641
|
|
NM_001042432.2(CLN3):c.62C>G (p.Pro21Arg)
|
|
|
NM_001042432.2(CLN3):c.62C>T (p.Pro21Leu)
|
rs562525993
|
|
NM_001042432.2(CLN3):c.631C>T (p.Gln211Ter)
|
rs386833737
|
|
NM_001042432.2(CLN3):c.636C>T (p.Thr212=)
|
|
|
NM_001042432.2(CLN3):c.637C>T (p.Leu213=)
|
rs2141712165
|
|
NM_001042432.2(CLN3):c.639G>C (p.Leu213=)
|
rs2141712141
|
|
NM_001042432.2(CLN3):c.639del (p.Leu214fs)
|
rs2046218391
|
|
NM_001042432.2(CLN3):c.63G>A (p.Pro21=)
|
|
|
NM_001042432.2(CLN3):c.642G>A (p.Leu214=)
|
|
|
NM_001042432.2(CLN3):c.644C>T (p.Ser215Phe)
|
|
|
NM_001042432.2(CLN3):c.645C>A (p.Ser215=)
|
rs1462596482
|
|
NM_001042432.2(CLN3):c.645C>G (p.Ser215=)
|
rs1462596482
|
|
NM_001042432.2(CLN3):c.646A>G (p.Met216Val)
|
rs2046218124
|
|
NM_001042432.2(CLN3):c.651G>C (p.Leu217=)
|
rs2141712068
|
|
NM_001042432.2(CLN3):c.657C>A (p.Ile219=)
|
|
|
NM_001042432.2(CLN3):c.657C>T (p.Ile219=)
|
rs1364319614
|
|
NM_001042432.2(CLN3):c.662C>T (p.Ala221Val)
|
|
|
NM_001042432.2(CLN3):c.663C>T (p.Ala221=)
|
|
|
NM_001042432.2(CLN3):c.666G>A (p.Leu222=)
|
|
|
NM_001042432.2(CLN3):c.66G>A (p.Glu22=)
|
rs2141722085
|
|
NM_001042432.2(CLN3):c.671T>C (p.Leu224Pro)
|
rs2046217325
|
|
NM_001042432.2(CLN3):c.676A>G (p.Ser226Gly)
|
rs1555468695
|
|
NM_001042432.2(CLN3):c.677+10C>A
|
|
|
NM_001042432.2(CLN3):c.677+10C>T
|
|
|
NM_001042432.2(CLN3):c.677+11C>T
|
|
|
NM_001042432.2(CLN3):c.677+18G>T
|
|
|
NM_001042432.2(CLN3):c.677+5G>C
|
|
|
NM_001042432.2(CLN3):c.677+7T>G
|
|
|
NM_001042432.2(CLN3):c.677+9C>T
|
rs2141711965
|
|
NM_001042432.2(CLN3):c.678-14C>T
|
|
|
NM_001042432.2(CLN3):c.678-6T>C
|
rs2141707250
|
|
NM_001042432.2(CLN3):c.678-7C>T
|
rs2141707254
|
|
NM_001042432.2(CLN3):c.678-8A>G
|
|
|
NM_001042432.2(CLN3):c.683del (p.Phe228fs)
|
|
|
NM_001042432.2(CLN3):c.684C>T (p.Phe228=)
|
|
|
NM_001042432.2(CLN3):c.688T>A (p.Leu230Met)
|
rs746075287
|
|
NM_001042432.2(CLN3):c.688T>C (p.Leu230=)
|
rs746075287
|
|
NM_001042432.2(CLN3):c.689T>G (p.Leu230Trp)
|
rs2046161855
|
|
NM_001042432.2(CLN3):c.696A>G (p.Thr232=)
|
|
|
NM_001042432.2(CLN3):c.698C>A (p.Ser233Tyr)
|
rs2046161412
|
|
NM_001042432.2(CLN3):c.6A>G (p.Gly2=)
|
|
|
NM_001042432.2(CLN3):c.702T>G (p.Pro234=)
|
|
|
NM_001042432.2(CLN3):c.707C>T (p.Ala236Val)
|
rs754906598
|
|
NM_001042432.2(CLN3):c.709C>T (p.Gln237Ter)
|
rs2141707084
|
|
NM_001042432.2(CLN3):c.711G>A (p.Gln237=)
|
rs2141707065
|
|
NM_001042432.2(CLN3):c.714C>T (p.Asp238=)
|
|
|
NM_001042432.2(CLN3):c.717T>C (p.Pro239=)
|
rs2046160732
|
|
NM_001042432.2(CLN3):c.723G>T (p.Gly241=)
|
rs2141707009
|
|
NM_001042432.2(CLN3):c.726A>T (p.Glu242Asp)
|
rs2046160396
|
|
NM_001042432.2(CLN3):c.729del (p.Glu244fs)
|
|
|
NM_001042432.2(CLN3):c.731A>C (p.Glu244Ala)
|
rs2046160099
|
|
NM_001042432.2(CLN3):c.734C>A (p.Ala245Glu)
|
rs2141706952
|
|
NM_001042432.2(CLN3):c.734_736del (p.Ala245del)
|
rs776966610
|
|
NM_001042432.2(CLN3):c.737A>T (p.Glu246Val)
|
rs2046159849
|
|
NM_001042432.2(CLN3):c.739A>C (p.Ser247Arg)
|
|
|
NM_001042432.2(CLN3):c.744A>C (p.Ala248=)
|
rs1446036630
|
|
NM_001042432.2(CLN3):c.747C>T (p.Ala249=)
|
|
|
NM_001042432.2(CLN3):c.749G>C (p.Arg250Pro)
|
rs374217931
|
|
NM_001042432.2(CLN3):c.751C>T (p.Gln251Ter)
|
rs2046158549
|
|
NM_001042432.2(CLN3):c.755C>T (p.Pro252Leu)
|
rs761065339
|
|
NM_001042432.2(CLN3):c.756C>T (p.Pro252=)
|
rs2046158184
|
|
NM_001042432.2(CLN3):c.759C>T (p.Leu253=)
|
rs772274552
|
|
NM_001042432.2(CLN3):c.75C>A (p.Leu25=)
|
|
|
NM_001042432.2(CLN3):c.767C>T (p.Thr256Ile)
|
rs1064796298
|
|
NM_001042432.2(CLN3):c.771G>C (p.Glu257Asp)
|
rs73533466
|
|
NM_001042432.2(CLN3):c.772G>A (p.Ala258Thr)
|
|
|
NM_001042432.2(CLN3):c.774C>T (p.Ala258=)
|
|
|
NM_001042432.2(CLN3):c.775C>T (p.Pro259Ser)
|
|
|
NM_001042432.2(CLN3):c.776C>A (p.Pro259Gln)
|
rs137858807
|
|
NM_001042432.2(CLN3):c.784A>G (p.Lys262Glu)
|
|
|
NM_001042432.2(CLN3):c.784A>T (p.Lys262Ter)
|
rs1064794233
|
|
NM_001042432.2(CLN3):c.790+10A>G
|
rs2141706615
|
|
NM_001042432.2(CLN3):c.790+14A>C
|
|
|
NM_001042432.2(CLN3):c.790+19C>G
|
|
|
NM_001042432.2(CLN3):c.790+1G>A
|
|
|
NM_001042432.2(CLN3):c.790+1G>T
|
|
|
NM_001042432.2(CLN3):c.790+1del
|
rs1555468374
|
|
NM_001042432.2(CLN3):c.790+2T>C
|
rs1397197980
|
|
NM_001042432.2(CLN3):c.790+3A>C
|
rs386833738
|
|
NM_001042432.2(CLN3):c.790+7G>A
|
rs2046156095
|
|
NM_001042432.2(CLN3):c.790+7G>C
|
rs2046156095
|
|
NM_001042432.2(CLN3):c.790+9C>G
|
rs1220855528
|
|
NM_001042432.2(CLN3):c.790G>T (p.Gly264Cys)
|
rs2046156366
|
|
NM_001042432.2(CLN3):c.791-11T>G
|
|
|
NM_001042432.2(CLN3):c.791-13T>C
|
|
|
NM_001042432.2(CLN3):c.791-15T>C
|
|
|
NM_001042432.2(CLN3):c.791-16C>G
|
|
|
NM_001042432.2(CLN3):c.791-20C>T
|
|
|
NM_001042432.2(CLN3):c.791-2A>G
|
|
|
NM_001042432.2(CLN3):c.791-5T>G
|
|
|
NM_001042432.2(CLN3):c.791-6del
|
rs2141704273
|
|
NM_001042432.2(CLN3):c.791-7C>T
|
|
|
NM_001042432.2(CLN3):c.791-8C>T
|
rs2141704283
|
|
NM_001042432.2(CLN3):c.791-9C>A
|
|
|
NM_001042432.2(CLN3):c.791-9C>T
|
rs771178755
|
|
NM_001042432.2(CLN3):c.792C>T (p.Gly264=)
|
rs2046122078
|
|
NM_001042432.2(CLN3):c.793T>G (p.Ser265Ala)
|
rs2141704251
|
|
NM_001042432.2(CLN3):c.794C>T (p.Ser265Phe)
|
|
|
NM_001042432.2(CLN3):c.798C>T (p.Ser266=)
|
rs2141704238
|
|
NM_001042432.2(CLN3):c.7G>A (p.Gly3Ser)
|
rs1398814860
|
|
NM_001042432.2(CLN3):c.804C>T (p.Ser268=)
|
rs773546150
|
|
NM_001042432.2(CLN3):c.805C>T (p.Leu269Phe)
|
rs1308474116
|
|
NM_001042432.2(CLN3):c.80T>C (p.Leu27Pro)
|
|
|
NM_001042432.2(CLN3):c.813T>A (p.Leu271=)
|
|
|
NM_001042432.2(CLN3):c.825G>A (p.Trp275Ter)
|
rs2141704162
|
|
NM_001042432.2(CLN3):c.828_829del (p.Phe278fs)
|
|
|
NM_001042432.2(CLN3):c.832T>A (p.Phe278Ile)
|
rs1567257709
|
|
NM_001042432.2(CLN3):c.837+10A>T
|
|
|
NM_001042432.2(CLN3):c.837+13G>A
|
|
|
NM_001042432.2(CLN3):c.837+17G>C
|
|
|
NM_001042432.2(CLN3):c.837+1G>T
|
|
|
NM_001042432.2(CLN3):c.837+3del
|
rs759553835
|
|
NM_001042432.2(CLN3):c.837+4C>T
|
rs778372397
|
|
NM_001042432.2(CLN3):c.837+9G>A
|
|
|
NM_001042432.2(CLN3):c.837+9dup
|
rs774380601
|
|
NM_001042432.2(CLN3):c.838-11G>A
|
|
|
NM_001042432.2(CLN3):c.838-12T>C
|
rs778887944
|
|
NM_001042432.2(CLN3):c.838-17T>A
|
|
|
NM_001042432.2(CLN3):c.838-20A>T
|
|
|
NM_001042432.2(CLN3):c.838-9C>T
|
rs1157303314
|
|
NM_001042432.2(CLN3):c.843G>A (p.Leu281=)
|
rs932586773
|
|
NM_001042432.2(CLN3):c.843G>T (p.Leu281=)
|
rs932586773
|
|
NM_001042432.2(CLN3):c.845_847dup (p.Leu282_Trp283insLeu)
|
|
|
NM_001042432.2(CLN3):c.846G>A (p.Leu282=)
|
rs2141703882
|
|
NM_001042432.2(CLN3):c.853A>G (p.Ile285Val)
|
rs748844685
|
|
NM_001042432.2(CLN3):c.855T>C (p.Ile285=)
|
|
|
NM_001042432.2(CLN3):c.859C>A (p.Pro287Thr)
|
rs796052341
|
|
NM_001042432.2(CLN3):c.861C>G (p.Pro287=)
|
|
|
NM_001042432.2(CLN3):c.861C>T (p.Pro287=)
|
rs1057524528
|
|
NM_001042432.2(CLN3):c.867C>G (p.Val289=)
|
rs2046117159
|
|
NM_001042432.2(CLN3):c.867C>T (p.Val289=)
|
rs2046117159
|
|
NM_001042432.2(CLN3):c.868G>T (p.Val290Leu)
|
rs369008702
|
|
NM_001042432.2(CLN3):c.870A>G (p.Val290=)
|
rs1555468214
|
|
NM_001042432.2(CLN3):c.871dup (p.Val291fs)
|
|
|
NM_001042432.2(CLN3):c.87C>A (p.Asp29Glu)
|
rs1131691496
|
|
NM_001042432.2(CLN3):c.882C>G (p.Ala294=)
|
|
|
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter)
|
rs121434286
|
|
NM_001042432.2(CLN3):c.884A>G (p.Glu295Gly)
|
rs2141703722
|
|
NM_001042432.2(CLN3):c.885G>A (p.Glu295=)
|
|
|
NM_001042432.2(CLN3):c.906+10G>A
|
rs1486544857
|
|
NM_001042432.2(CLN3):c.906+11G>A
|
|
|
NM_001042432.2(CLN3):c.906+15C>G
|
|
|
NM_001042432.2(CLN3):c.906+16T>C
|
rs2141703636
|
|
NM_001042432.2(CLN3):c.906+17A>G
|
|
|
NM_001042432.2(CLN3):c.906+18G>A
|
rs2046115412
|
|
NM_001042432.2(CLN3):c.906+18G>C
|
|
|
NM_001042432.2(CLN3):c.906+20A>C
|
|
|
NM_001042432.2(CLN3):c.906+2T>G
|
rs771788391
|
|
NM_001042432.2(CLN3):c.906+9G>C
|
rs1191183887
|
|
NM_001042432.2(CLN3):c.907-17T>A
|
|
|
NM_001042432.2(CLN3):c.907-18G>A
|
|
|
NM_001042432.2(CLN3):c.907-2A>G
|
rs2141703433
|
|
NM_001042432.2(CLN3):c.907-3C>T
|
|
|
NM_001042432.2(CLN3):c.907-4G>A
|
|
|
NM_001042432.2(CLN3):c.907-7G>A
|
rs368113837
|
|
NM_001042432.2(CLN3):c.915C>G (p.Leu305=)
|
rs759304422
|
|
NM_001042432.2(CLN3):c.915C>T (p.Leu305=)
|
rs759304422
|
|
NM_001042432.2(CLN3):c.916C>T (p.Leu306Phe)
|
|
|
NM_001042432.2(CLN3):c.918C>G (p.Leu306=)
|
|
|
NM_001042432.2(CLN3):c.930C>T (p.Asn310=)
|
rs2141703388
|
|
NM_001042432.2(CLN3):c.931A>G (p.Thr311Ala)
|
|
|
NM_001042432.2(CLN3):c.936C>T (p.Ser312=)
|
rs762896453
|
|
NM_001042432.2(CLN3):c.937C>T (p.Leu313=)
|
|
|
NM_001042432.2(CLN3):c.943C>G (p.His315Asp)
|
rs2141703350
|
|
NM_001042432.2(CLN3):c.944_945insGA (p.His315fs)
|
|
|
NM_001042432.2(CLN3):c.944dup (p.His315fs)
|
rs386833740
|
|
NM_001042432.2(CLN3):c.946G>T (p.Ala316Ser)
|
rs780974004
|
|
NM_001042432.2(CLN3):c.947C>G (p.Ala316Gly)
|
rs2046112700
|
|
NM_001042432.2(CLN3):c.954A>T (p.Gln318His)
|
rs2141703284
|
|
NM_001042432.2(CLN3):c.954_962+18del
|
rs386833741
|
|
NM_001042432.2(CLN3):c.956A>G (p.Tyr319Cys)
|
rs1322613715
|
|
NM_001042432.2(CLN3):c.962+10G>A
|
rs1409669851
|
|
NM_001042432.2(CLN3):c.962+18A>G
|
|
|
NM_001042432.2(CLN3):c.962+2dup
|
|
|
NM_001042432.2(CLN3):c.962+4A>G
|
rs1596556713
|
|
NM_001042432.2(CLN3):c.962+7G>A
|
rs1555468172
|
|
NM_001042432.2(CLN3):c.962+8G>A
|
rs2046112088
|
|
NM_001042432.2(CLN3):c.963-10C>G
|
|
|
NM_001042432.2(CLN3):c.963-15C>G
|
|
|
NM_001042432.2(CLN3):c.963-15C>T
|
rs746276318
|
|
NM_001042432.2(CLN3):c.963-16C>A
|
rs200023908
|
|
NM_001042432.2(CLN3):c.963-16C>T
|
|
|
NM_001042432.2(CLN3):c.963-17C>A
|
rs746616613
|
|
NM_001042432.2(CLN3):c.963-20C>T
|
|
|
NM_001042432.2(CLN3):c.963-2A>G
|
rs1418997146
|
|
NM_001042432.2(CLN3):c.963-5C>A
|
|
|
NM_001042432.2(CLN3):c.963-6C>A
|
|
|
NM_001042432.2(CLN3):c.963-8A>C
|
|
|
NM_001042432.2(CLN3):c.963-8A>G
|
|
|
NM_001042432.2(CLN3):c.967C>T (p.Gln323Ter)
|
|
|
NM_001042432.2(CLN3):c.969G>A (p.Gln323=)
|
rs2141702884
|
|
NM_001042432.2(CLN3):c.96C>A (p.Gly32=)
|
|
|
NM_001042432.2(CLN3):c.96C>T (p.Gly32=)
|
|
|
NM_001042432.2(CLN3):c.984T>A (p.Ala328=)
|
rs2141702854
|
|
NM_001042432.2(CLN3):c.985_988del (p.Gly329fs)
|
rs2141702839
|
|
NM_001042432.2(CLN3):c.988G>T (p.Val330Phe)
|
rs386833744
|
|
NM_001042432.2(CLN3):c.990C>G (p.Val330=)
|
rs2141702816
|
|
NM_001042432.2(CLN3):c.992_993del (p.Phe331fs)
|
rs2046109345
|
|
NM_001042432.2(CLN3):c.995C>T (p.Ala332Val)
|
|
|
NM_001042432.2(CLN3):c.996C>T (p.Ala332=)
|
|
|
NM_001042432.2(CLN3):c.99G>C (p.Ala33=)
|
|
|
NM_001042432.2(CLN3):c.9C>T (p.Gly3=)
|
rs2141722774
|
|
NM_001366624.2(CLN5):c.*43G>A
|
rs2034339711
|
|
NM_001909.5(CTSD):c.1002C>T (p.Thr334=)
|
|
|
NM_001909.5(CTSD):c.1009G>T (p.Ala337Ser)
|
rs147800688
|
|
NM_001909.5(CTSD):c.1011G>A (p.Ala337=)
|
|
|
NM_001909.5(CTSD):c.1011G>T (p.Ala337=)
|
|
|
NM_001909.5(CTSD):c.1012A>C (p.Ile338Leu)
|
|
|
NM_001909.5(CTSD):c.1017A>G (p.Thr339=)
|
rs1845760192
|
|
NM_001909.5(CTSD):c.1017A>T (p.Thr339=)
|
|
|
NM_001909.5(CTSD):c.1023G>A (p.Lys341=)
|
rs111849172
|
|
NM_001909.5(CTSD):c.1029A>G (p.Gly343=)
|
|
|
NM_001909.5(CTSD):c.1034A>G (p.Lys345Arg)
|
rs1845759906
|
|
NM_001909.5(CTSD):c.1047G>A (p.Leu349=)
|
rs2133657544
|
|
NM_001909.5(CTSD):c.1050C>T (p.Ser350=)
|
|
|
NM_001909.5(CTSD):c.1052dup (p.Glu352fs)
|
|
|
NM_001909.5(CTSD):c.1056G>A (p.Glu352=)
|
|
|
NM_001909.5(CTSD):c.105C>T (p.Thr35=)
|
rs2133666357
|
|
NM_001909.5(CTSD):c.1064C>T (p.Thr355Met)
|
|
|
NM_001909.5(CTSD):c.1068C>G (p.Leu356=)
|
|
|
NM_001909.5(CTSD):c.106A>G (p.Met36Val)
|
|
|
NM_001909.5(CTSD):c.1071+10C>A
|
rs2133657508
|
|
NM_001909.5(CTSD):c.1071+10C>T
|
rs2133657508
|
|
NM_001909.5(CTSD):c.1071+12A>T
|
rs113936232
|
|
NM_001909.5(CTSD):c.1071+13_1072-57del
|
|
|
NM_001909.5(CTSD):c.1071+15G>A
|
|
|
NM_001909.5(CTSD):c.1071+16G>A
|
|
|
NM_001909.5(CTSD):c.1071+16G>T
|
|
|
NM_001909.5(CTSD):c.1071+17G>T
|
|
|
NM_001909.5(CTSD):c.1072-11G>A
|
|
|
NM_001909.5(CTSD):c.1072-11G>C
|
rs143631836
|
|
NM_001909.5(CTSD):c.1072-12G>C
|
|
|
NM_001909.5(CTSD):c.1072-15C>G
|
|
|
NM_001909.5(CTSD):c.1072-17C>T
|
|
|
NM_001909.5(CTSD):c.1072-18C>T
|
|
|
NM_001909.5(CTSD):c.1072-1G>A
|
|
|
NM_001909.5(CTSD):c.1072-5C>T
|
rs1184773829
|
|
NM_001909.5(CTSD):c.1072-7G>T
|
rs149019571
|
|
NM_001909.5(CTSD):c.1072-8C>T
|
|
|
NM_001909.5(CTSD):c.1077G>C (p.Ser359=)
|
|
|
NM_001909.5(CTSD):c.1077G>T (p.Ser359=)
|
rs138940129
|
|
NM_001909.5(CTSD):c.1080G>C (p.Gln360His)
|
rs2133657278
|
|
NM_001909.5(CTSD):c.1081G>T (p.Ala361Ser)
|
rs1845756287
|
|
NM_001909.5(CTSD):c.1105G>A (p.Gly369Ser)
|
rs1845755979
|
|
NM_001909.5(CTSD):c.110C>T (p.Ser37Leu)
|
|
|
NM_001909.5(CTSD):c.1111A>G (p.Met371Val)
|
|
|
NM_001909.5(CTSD):c.1119G>C (p.Met373Ile)
|
rs796052398
|
|
NM_001909.5(CTSD):c.1119G>T (p.Met373Ile)
|
|
|
NM_001909.5(CTSD):c.111G>C (p.Ser37=)
|
rs535140505
|
|
NM_001909.5(CTSD):c.1125C>T (p.Ile375=)
|
|
|
NM_001909.5(CTSD):c.1128G>C (p.Pro376=)
|
|
|
NM_001909.5(CTSD):c.1129C>A (p.Pro377Thr)
|
|
|
NM_001909.5(CTSD):c.1136G>A (p.Ser379Asn)
|
rs1177483130
|
|
NM_001909.5(CTSD):c.1142del (p.Pro381fs)
|
|
|
NM_001909.5(CTSD):c.1146C>G (p.Leu382=)
|
rs1030148662
|
|
NM_001909.5(CTSD):c.1146_1147del (p.Trp383fs)
|
rs2133657191
|
|
NM_001909.5(CTSD):c.1147_1148del (p.Trp383fs)
|
rs2133657189
|
|
NM_001909.5(CTSD):c.114G>A (p.Glu38=)
|
|
|
NM_001909.5(CTSD):c.115G>A (p.Val39Ile)
|
|
|
NM_001909.5(CTSD):c.115G>C (p.Val39Leu)
|
|
|
NM_001909.5(CTSD):c.1161C>T (p.Asp387=)
|
|
|
NM_001909.5(CTSD):c.1164C>G (p.Val388=)
|
|
|
NM_001909.5(CTSD):c.1164C>T (p.Val388=)
|
|
|
NM_001909.5(CTSD):c.1171G>A (p.Gly391Ser)
|
|
|
NM_001909.5(CTSD):c.1174C>T (p.Arg392Cys)
|
|
|
NM_001909.5(CTSD):c.1175G>A (p.Arg392His)
|
rs374531851
|
|
NM_001909.5(CTSD):c.1175G>T (p.Arg392Leu)
|
rs374531851
|
|
NM_001909.5(CTSD):c.1176C>A (p.Arg392=)
|
|
|
NM_001909.5(CTSD):c.117T>C (p.Val39=)
|
|
|
NM_001909.5(CTSD):c.1182C>T (p.Tyr394=)
|
|
|
NM_001909.5(CTSD):c.1185T>C (p.Thr395=)
|
|
|
NM_001909.5(CTSD):c.1185T>G (p.Thr395=)
|
rs1565018468
|
|
NM_001909.5(CTSD):c.1188G>A (p.Val396=)
|
|
|
NM_001909.5(CTSD):c.1194C>T (p.Asp398=)
|
|
|
NM_001909.5(CTSD):c.1196G>A (p.Arg399His)
|
rs797045138
|
|
NM_001909.5(CTSD):c.1199ACA[2] (p.Asn402del)
|
rs2133657126
|
|
NM_001909.5(CTSD):c.1204A>G (p.Asn402Asp)
|
|
|
NM_001909.5(CTSD):c.1206C>T (p.Asn402=)
|
|
|
NM_001909.5(CTSD):c.120G>A (p.Gly40=)
|
|
|
NM_001909.5(CTSD):c.1210G>T (p.Val404Leu)
|
rs750489880
|
|
NM_001909.5(CTSD):c.1213G>A (p.Gly405Ser)
|
|
|
NM_001909.5(CTSD):c.1218C>T (p.Phe406=)
|
|
|
NM_001909.5(CTSD):c.1228G>C (p.Ala410Pro)
|
rs1316535195
|
|
NM_001909.5(CTSD):c.1229C>G (p.Ala410Gly)
|
rs1845753565
|
|
NM_001909.5(CTSD):c.1234C>T (p.Leu412Phe)
|
|
|
NM_001909.5(CTSD):c.1235T>G (p.Leu412Arg)
|
rs1554962202
|
|
NM_001909.5(CTSD):c.1236C>G (p.Leu412=)
|
rs1565018392
|
|
NM_001909.5(CTSD):c.1236C>T (p.Leu412=)
|
|
|
NM_001909.5(CTSD):c.1239G>A (p.Ter413=)
|
|
|
NM_001909.5(CTSD):c.12C>T (p.Ser4=)
|
|
|
NM_001909.5(CTSD):c.130G>A (p.Glu44Lys)
|
|
|
NM_001909.5(CTSD):c.132G>C (p.Glu44Asp)
|
|
|
NM_001909.5(CTSD):c.133G>A (p.Asp45Asn)
|
rs1845875103
|
|
NM_001909.5(CTSD):c.141T>C (p.Ile47=)
|
|
|
NM_001909.5(CTSD):c.141T>G (p.Ile47Met)
|
rs545927559
|
|
NM_001909.5(CTSD):c.14G>T (p.Ser5Ile)
|
rs764386803
|
|
NM_001909.5(CTSD):c.152C>G (p.Pro51Arg)
|
rs2133666262
|
|
NM_001909.5(CTSD):c.153del (p.Val52fs)
|
|
|
NM_001909.5(CTSD):c.15C>T (p.Ser5=)
|
|
|
NM_001909.5(CTSD):c.161A>G (p.Lys54Arg)
|
rs1565023298
|
|
NM_001909.5(CTSD):c.162G>A (p.Lys54=)
|
|
|
NM_001909.5(CTSD):c.165C>T (p.Tyr55=)
|
|
|
NM_001909.5(CTSD):c.166T>C (p.Ser56Pro)
|
|
|
NM_001909.5(CTSD):c.168C>G (p.Ser56=)
|
|
|
NM_001909.5(CTSD):c.169C>T (p.Gln57Ter)
|
|
|
NM_001909.5(CTSD):c.16C>T (p.Leu6Phe)
|
rs1590909993
|
|
NM_001909.5(CTSD):c.173C>A (p.Ala58Glu)
|
|
|
NM_001909.5(CTSD):c.177G>A (p.Val59=)
|
|
|
NM_001909.5(CTSD):c.180A>G (p.Pro60=)
|
rs749805002
|
|
NM_001909.5(CTSD):c.182C>T (p.Ala61Val)
|
rs868621027
|
|
NM_001909.5(CTSD):c.184G>T (p.Val62Leu)
|
rs756892066
|
|
NM_001909.5(CTSD):c.189C>G (p.Thr63=)
|
rs114051835
|
|
NM_001909.5(CTSD):c.190G>C (p.Glu64Gln)
|
rs539823013
|
|
NM_001909.5(CTSD):c.190G>T (p.Glu64Ter)
|
|
|
NM_001909.5(CTSD):c.192G>A (p.Glu64=)
|
|
|
NM_001909.5(CTSD):c.195G>T (p.Gly65=)
|
rs2133666196
|
|
NM_001909.5(CTSD):c.19C>T (p.Leu7=)
|
rs1470191996
|
|
NM_001909.5(CTSD):c.1A>G (p.Met1Val)
|
|
|
NM_001909.5(CTSD):c.203C>T (p.Pro68Leu)
|
rs11555044
|
|
NM_001909.5(CTSD):c.204C>G (p.Pro68=)
|
|
|
NM_001909.5(CTSD):c.207G>A (p.Glu69=)
|
|
|
NM_001909.5(CTSD):c.211C>T (p.Leu71Phe)
|
|
|
NM_001909.5(CTSD):c.21G>C (p.Leu7=)
|
|
|
NM_001909.5(CTSD):c.228+17A>G
|
|
|
NM_001909.5(CTSD):c.228+19C>A
|
|
|
NM_001909.5(CTSD):c.228+1G>A
|
rs766300396
|
|
NM_001909.5(CTSD):c.228+1G>T
|
rs766300396
|
|
NM_001909.5(CTSD):c.228+7A>T
|
|
|
NM_001909.5(CTSD):c.228+8T>C
|
|
|
NM_001909.5(CTSD):c.229-12G>A
|
rs767539066
|
|
NM_001909.5(CTSD):c.229-12G>C
|
|
|
NM_001909.5(CTSD):c.229-18del
|
|
|
NM_001909.5(CTSD):c.229-8C>T
|
|
|
NM_001909.5(CTSD):c.22C>T (p.Pro8Ser)
|
rs1590909988
|
|
NM_001909.5(CTSD):c.243G>C (p.Gly81=)
|
|
|
NM_001909.5(CTSD):c.253A>G (p.Ile85Val)
|
rs1565022412
|
|
NM_001909.5(CTSD):c.255C>T (p.Ile85=)
|
|
|
NM_001909.5(CTSD):c.256G>A (p.Gly86Arg)
|
rs1845850566
|
|
NM_001909.5(CTSD):c.261G>C (p.Thr87=)
|
|
|
NM_001909.5(CTSD):c.262C>G (p.Pro88Ala)
|
rs796052400
|
|
NM_001909.5(CTSD):c.262C>T (p.Pro88Ser)
|
|
|
NM_001909.5(CTSD):c.264C>T (p.Pro88=)
|
|
|
NM_001909.5(CTSD):c.267C>A (p.Pro89=)
|
|
|
NM_001909.5(CTSD):c.267C>T (p.Pro89=)
|
|
|
NM_001909.5(CTSD):c.268del (p.Gln90fs)
|
rs752612332
|
|
NM_001909.5(CTSD):c.268dup (p.Gln90fs)
|
rs752612332
|
|
NM_001909.5(CTSD):c.269A>G (p.Gln90Arg)
|
|
|
NM_001909.5(CTSD):c.271T>C (p.Cys91Arg)
|
rs1042278213
|
|
NM_001909.5(CTSD):c.276C>T (p.Phe92=)
|
|
|
NM_001909.5(CTSD):c.27C>T (p.Leu9=)
|
|
|
NM_001909.5(CTSD):c.285C>T (p.Val95=)
|
rs1845849997
|
|
NM_001909.5(CTSD):c.28G>T (p.Ala10Ser)
|
rs1845913637
|
|
NM_001909.5(CTSD):c.293C>G (p.Thr98Arg)
|
rs748897941
|
|
NM_001909.5(CTSD):c.300C>T (p.Ser100=)
|
rs1417163449
|
|
NM_001909.5(CTSD):c.304A>C (p.Asn102His)
|
rs2133664207
|
|
NM_001909.5(CTSD):c.306C>T (p.Asn102=)
|
rs1258957118
|
|
NM_001909.5(CTSD):c.307C>G (p.Leu103Val)
|
rs750415207
|
|
NM_001909.5(CTSD):c.307C>T (p.Leu103=)
|
|
|
NM_001909.5(CTSD):c.309G>T (p.Leu103=)
|
|
|
NM_001909.5(CTSD):c.313G>A (p.Val105Ile)
|
rs897944478
|
|
NM_001909.5(CTSD):c.318C>T (p.Pro106=)
|
rs1845849397
|
|
NM_001909.5(CTSD):c.330C>T (p.Cys110=)
|
|
|
NM_001909.5(CTSD):c.339G>A (p.Leu113=)
|
rs2133664177
|
|
NM_001909.5(CTSD):c.342C>T (p.Asp114=)
|
|
|
NM_001909.5(CTSD):c.343A>G (p.Ile115Val)
|
|
|
NM_001909.5(CTSD):c.347C>T (p.Ala116Val)
|
|
|
NM_001909.5(CTSD):c.352+10G>A
|
rs775828680
|
|
NM_001909.5(CTSD):c.352+10G>C
|
rs775828680
|
|
NM_001909.5(CTSD):c.352+12A>G
|
|
|
NM_001909.5(CTSD):c.352+16T>C
|
rs2133664139
|
|
NM_001909.5(CTSD):c.353-10C>T
|
|
|
NM_001909.5(CTSD):c.353-14G>C
|
|
|
NM_001909.5(CTSD):c.353-15T>C
|
|
|
NM_001909.5(CTSD):c.353-4G>A
|
rs1565022058
|
|
NM_001909.5(CTSD):c.353-6G>A
|
rs1565022065
|
|
NM_001909.5(CTSD):c.353-8C>G
|
|
|
NM_001909.5(CTSD):c.353-8C>T
|
rs760934292
|
|
NM_001909.5(CTSD):c.353-9C>T
|
rs1369399012
|
|
NM_001909.5(CTSD):c.355A>G (p.Ile119Val)
|
|
|
NM_001909.5(CTSD):c.358C>T (p.His120Tyr)
|
rs1381781298
|
|
NM_001909.5(CTSD):c.360C>T (p.His120=)
|
rs1456005145
|
|
NM_001909.5(CTSD):c.369C>T (p.Tyr123=)
|
|
|
NM_001909.5(CTSD):c.370A>G (p.Asn124Asp)
|
rs1590907227
|
|
NM_001909.5(CTSD):c.378C>A (p.Asp126Glu)
|
|
|
NM_001909.5(CTSD):c.384C>T (p.Ser128=)
|
|
|
NM_001909.5(CTSD):c.390C>T (p.Thr130=)
|
|
|
NM_001909.5(CTSD):c.394G>A (p.Val132Met)
|
rs770820791
|
|
NM_001909.5(CTSD):c.396G>A (p.Val132=)
|
rs2133663597
|
|
NM_001909.5(CTSD):c.407C>T (p.Thr136Ile)
|
|
|
NM_001909.5(CTSD):c.409T>A (p.Ser137Thr)
|
rs1845842497
|
|
NM_001909.5(CTSD):c.420C>T (p.Ile140=)
|
|
|
NM_001909.5(CTSD):c.429C>T (p.Gly143=)
|
rs755085691
|
|
NM_001909.5(CTSD):c.431C>T (p.Ser144Leu)
|
rs754147413
|
|
NM_001909.5(CTSD):c.437G>T (p.Ser146Ile)
|
rs911813557
|
|
NM_001909.5(CTSD):c.445G>A (p.Gly149Arg)
|
rs762336399
|
|
NM_001909.5(CTSD):c.457C>T (p.Gln153Ter)
|
|
|
NM_001909.5(CTSD):c.463A>T (p.Thr155Ser)
|
rs764778708
|
|
NM_001909.5(CTSD):c.464_465delinsGC (p.Thr155Ser)
|
rs1845841625
|
|
NM_001909.5(CTSD):c.465_466inv (p.Val156Met)
|
|
|
NM_001909.5(CTSD):c.465dup (p.Val156fs)
|
|
|
NM_001909.5(CTSD):c.468G>A (p.Val156=)
|
|
|
NM_001909.5(CTSD):c.468_469del (p.Ser157fs)
|
|
|
NM_001909.5(CTSD):c.471+17C>A
|
|
|
NM_001909.5(CTSD):c.471+6T>G
|
rs2133663481
|
|
NM_001909.5(CTSD):c.471+8C>T
|
|
|
NM_001909.5(CTSD):c.472-16_472-15del
|
|
|
NM_001909.5(CTSD):c.472-17T>G
|
|
|
NM_001909.5(CTSD):c.472-19A>C
|
rs2133662179
|
|
NM_001909.5(CTSD):c.472-20G>C
|
|
|
NM_001909.5(CTSD):c.472-6C>A
|
|
|
NM_001909.5(CTSD):c.472G>A (p.Val158Met)
|
|
|
NM_001909.5(CTSD):c.474G>C (p.Val158=)
|
|
|
NM_001909.5(CTSD):c.478T>C (p.Cys160Arg)
|
rs1845825044
|
|
NM_001909.5(CTSD):c.489G>T (p.Ala163=)
|
|
|
NM_001909.5(CTSD):c.493T>A (p.Ser165Thr)
|
|
|
NM_001909.5(CTSD):c.495A>G (p.Ser165=)
|
|
|
NM_001909.5(CTSD):c.497C>T (p.Ala166Val)
|
rs796052396
|
|
NM_001909.5(CTSD):c.498C>T (p.Ala166=)
|
|
|
NM_001909.5(CTSD):c.502G>T (p.Ala168Ser)
|
rs1554962647
|
|
NM_001909.5(CTSD):c.507G>A (p.Leu169=)
|
|
|
NM_001909.5(CTSD):c.507G>C (p.Leu169=)
|
|
|
NM_001909.5(CTSD):c.508G>A (p.Gly170Ser)
|
|
|
NM_001909.5(CTSD):c.509G>A (p.Gly170Asp)
|
rs1845824451
|
|
NM_001909.5(CTSD):c.51del (p.Ala18fs)
|
|
|
NM_001909.5(CTSD):c.52G>C (p.Ala18Pro)
|
rs796052403
|
|
NM_001909.5(CTSD):c.537T>C (p.Phe179=)
|
rs11555045
|
|
NM_001909.5(CTSD):c.550A>T (p.Lys184Ter)
|
|
|
NM_001909.5(CTSD):c.555G>T (p.Gln185His)
|
|
|
NM_001909.5(CTSD):c.558A>C (p.Pro186=)
|
|
|
NM_001909.5(CTSD):c.566C>T (p.Thr189Ile)
|
rs1554962634
|
|
NM_001909.5(CTSD):c.570C>T (p.Phe190=)
|
rs1325097000
|
|
NM_001909.5(CTSD):c.571A>G (p.Ile191Val)
|
rs750166391
|
|
NM_001909.5(CTSD):c.573C>T (p.Ile191=)
|
|
|
NM_001909.5(CTSD):c.574G>A (p.Ala192Thr)
|
rs767282477
|
|
NM_001909.5(CTSD):c.585C>T (p.Phe195=)
|
|
|
NM_001909.5(CTSD):c.586G>A (p.Asp196Asn)
|
rs1388675826
|
|
NM_001909.5(CTSD):c.594C>T (p.Ile198=)
|
|
|
NM_001909.5(CTSD):c.608A>T (p.Tyr203Phe)
|
rs1590906292
|
|
NM_001909.5(CTSD):c.613C>T (p.Arg205Cys)
|
rs769825646
|
|
NM_001909.5(CTSD):c.616A>G (p.Ile206Val)
|
rs2133661989
|
|
NM_001909.5(CTSD):c.621C>T (p.Ser207=)
|
rs367978332
|
|
NM_001909.5(CTSD):c.627_628del (p.Asn209fs)
|
|
|
NM_001909.5(CTSD):c.634C>T (p.Leu212=)
|
|
|
NM_001909.5(CTSD):c.639C>A (p.Pro213=)
|
rs146073498
|
|
NM_001909.5(CTSD):c.639C>T (p.Pro213=)
|
rs146073498
|
|
NM_001909.5(CTSD):c.63C>G (p.Leu21=)
|
rs1021613206
|
|
NM_001909.5(CTSD):c.642C>T (p.Val214=)
|
|
|
NM_001909.5(CTSD):c.645C>T (p.Phe215=)
|
|
|
NM_001909.5(CTSD):c.646G>A (p.Asp216Asn)
|
rs1235872591
|
|
NM_001909.5(CTSD):c.64G>T (p.Val22Phe)
|
rs1060502503
|
|
NM_001909.5(CTSD):c.654G>T (p.Leu218=)
|
|
|
NM_001909.5(CTSD):c.657G>T (p.Met219Ile)
|
|
|
NM_001909.5(CTSD):c.658C>T (p.Gln220Ter)
|
|
|
NM_001909.5(CTSD):c.665A>G (p.Lys222Arg)
|
rs1845822086
|
|
NM_001909.5(CTSD):c.666G>A (p.Lys222=)
|
rs2133661919
|
|
NM_001909.5(CTSD):c.669G>A (p.Leu223=)
|
|
|
NM_001909.5(CTSD):c.670G>A (p.Val224Met)
|
|
|
NM_001909.5(CTSD):c.671T>A (p.Val224Glu)
|
|
|
NM_001909.5(CTSD):c.672G>A (p.Val224=)
|
|
|
NM_001909.5(CTSD):c.675_704+1dup
|
|
|
NM_001909.5(CTSD):c.68+10C>G
|
rs760082760
|
|
NM_001909.5(CTSD):c.68+11_68+12del
|
|
|
NM_001909.5(CTSD):c.68+16C>T
|
|
|
NM_001909.5(CTSD):c.68+18G>A
|
|
|
NM_001909.5(CTSD):c.68+19G>A
|
|
|
NM_001909.5(CTSD):c.68+19G>C
|
|
|
NM_001909.5(CTSD):c.68+1G>A
|
|
|
NM_001909.5(CTSD):c.68+5A>C
|
|
|
NM_001909.5(CTSD):c.683TCT[1] (p.Phe229del)
|
rs1057519591
|
|
NM_001909.5(CTSD):c.689_691del (p.Ser230del)
|
|
|
NM_001909.5(CTSD):c.69-11G>C
|
rs199970909
|
|
NM_001909.5(CTSD):c.69-12C>A
|
rs764025297
|
|
NM_001909.5(CTSD):c.69-14C>T
|
|
|
NM_001909.5(CTSD):c.69-15A>G
|
|
|
NM_001909.5(CTSD):c.69-16G>C
|
rs377703110
|
|
NM_001909.5(CTSD):c.69-17C>T
|
rs371858126
|
|
NM_001909.5(CTSD):c.69-17del
|
|
|
NM_001909.5(CTSD):c.69-18C>T
|
|
|
NM_001909.5(CTSD):c.69-19C>T
|
|
|
NM_001909.5(CTSD):c.69-1G>A
|
|
|
NM_001909.5(CTSD):c.692_694del (p.Phe231del)
|
rs1478615059
|
|
NM_001909.5(CTSD):c.696C>T (p.Tyr232=)
|
|
|
NM_001909.5(CTSD):c.704+10T>C
|
|
|
NM_001909.5(CTSD):c.704+11G>A
|
|
|
NM_001909.5(CTSD):c.704+17C>T
|
|
|
NM_001909.5(CTSD):c.704+19T>C
|
|
|
NM_001909.5(CTSD):c.704+1G>T
|
|
|
NM_001909.5(CTSD):c.704+6C>A
|
rs370847523
|
|
NM_001909.5(CTSD):c.704+7G>A
|
rs748547852
|
|
NM_001909.5(CTSD):c.704+7G>T
|
|
|
NM_001909.5(CTSD):c.704+9G>C
|
rs2133661868
|
|
NM_001909.5(CTSD):c.704+9G>T
|
|
|
NM_001909.5(CTSD):c.705-15C>T
|
|
|
NM_001909.5(CTSD):c.705-63_705-11del
|
rs2133660021
|
|
NM_001909.5(CTSD):c.705-7C>T
|
|
|
NM_001909.5(CTSD):c.708C>T (p.Asp236=)
|
|
|
NM_001909.5(CTSD):c.70A>T (p.Ile24Phe)
|
rs1845876465
|
|
NM_001909.5(CTSD):c.717G>C (p.Ala239=)
|
|
|
NM_001909.5(CTSD):c.717G>T (p.Ala239=)
|
|
|
NM_001909.5(CTSD):c.718C>T (p.Gln240Ter)
|
|
|
NM_001909.5(CTSD):c.725G>T (p.Gly242Val)
|
|
|
NM_001909.5(CTSD):c.728del (p.Gly243fs)
|
|
|
NM_001909.5(CTSD):c.72C>G (p.Ile24Met)
|
|
|
NM_001909.5(CTSD):c.733C>T (p.Leu245=)
|
|
|
NM_001909.5(CTSD):c.741G>C (p.Leu247=)
|
|
|
NM_001909.5(CTSD):c.753C>T (p.Asp251=)
|
rs2133659952
|
|
NM_001909.5(CTSD):c.756C>T (p.Ser252=)
|
|
|
NM_001909.5(CTSD):c.756dup (p.Lys253fs)
|
|
|
NM_001909.5(CTSD):c.759G>A (p.Lys253=)
|
rs2133659945
|
|
NM_001909.5(CTSD):c.767A>G (p.Lys256Arg)
|
|
|
NM_001909.5(CTSD):c.768G>A (p.Lys256=)
|
|
|
NM_001909.5(CTSD):c.775C>T (p.Leu259=)
|
|
|
NM_001909.5(CTSD):c.780C>G (p.Ser260=)
|
|
|
NM_001909.5(CTSD):c.780C>T (p.Ser260=)
|
rs1404000220
|
|
NM_001909.5(CTSD):c.795C>T (p.Thr265=)
|
|
|
NM_001909.5(CTSD):c.797G>A (p.Arg266His)
|
|
|
NM_001909.5(CTSD):c.799A>C (p.Lys267Gln)
|
rs749091423
|
|
NM_001909.5(CTSD):c.804C>T (p.Ala268=)
|
|
|
NM_001909.5(CTSD):c.816C>A (p.Val272=)
|
rs1554962441
|
|
NM_001909.5(CTSD):c.816C>T (p.Val272=)
|
|
|
NM_001909.5(CTSD):c.824_827+30del
|
rs2133659840
|
|
NM_001909.5(CTSD):c.827+14_827+15delinsTT
|
rs2133659869
|
|
NM_001909.5(CTSD):c.827+17G>A
|
|
|
NM_001909.5(CTSD):c.827+17G>C
|
|
|
NM_001909.5(CTSD):c.827+19del
|
|
|
NM_001909.5(CTSD):c.827+20G>T
|
rs763211820
|
|
NM_001909.5(CTSD):c.827+2T>C
|
rs1845791308
|
|
NM_001909.5(CTSD):c.827+5G>A
|
|
|
NM_001909.5(CTSD):c.828-15C>G
|
|
|
NM_001909.5(CTSD):c.828-16C>T
|
|
|
NM_001909.5(CTSD):c.828-19_828-18delinsCT
|
|
|
NM_001909.5(CTSD):c.828-20C>T
|
|
|
NM_001909.5(CTSD):c.828-2A>C
|
|
|
NM_001909.5(CTSD):c.828-3C>A
|
|
|
NM_001909.5(CTSD):c.828-6C>G
|
rs1222306629
|
|
NM_001909.5(CTSD):c.828-7C>T
|
|
|
NM_001909.5(CTSD):c.828-8C>T
|
|
|
NM_001909.5(CTSD):c.828-9T>G
|
|
|
NM_001909.5(CTSD):c.829G>T (p.Val277Leu)
|
|
|
NM_001909.5(CTSD):c.82A>G (p.Lys28Glu)
|
|
|
NM_001909.5(CTSD):c.831G>A (p.Val277=)
|
rs764812657
|
|
NM_001909.5(CTSD):c.832G>C (p.Glu278Gln)
|
rs1402574017
|
|
NM_001909.5(CTSD):c.832G>T (p.Glu278Ter)
|
|
|
NM_001909.5(CTSD):c.833_835dup (p.Glu278_Val279insGlu)
|
|
|
NM_001909.5(CTSD):c.834G>C (p.Glu278Asp)
|
|
|
NM_001909.5(CTSD):c.845G>T (p.Gly282Val)
|
|
|
NM_001909.5(CTSD):c.849G>A (p.Leu283=)
|
rs1014674908
|
|
NM_001909.5(CTSD):c.84G>A (p.Lys28=)
|
|
|
NM_001909.5(CTSD):c.851C>G (p.Thr284Ser)
|
|
|
NM_001909.5(CTSD):c.853del (p.Leu285fs)
|
|
|
NM_001909.5(CTSD):c.863A>G (p.Glu288Gly)
|
|
|
NM_001909.5(CTSD):c.873G>A (p.Glu291=)
|
|
|
NM_001909.5(CTSD):c.879T>A (p.Ile293=)
|
|
|
NM_001909.5(CTSD):c.885C>T (p.Asp295=)
|
|
|
NM_001909.5(CTSD):c.887C>G (p.Thr296Arg)
|
|
|
NM_001909.5(CTSD):c.888A>C (p.Thr296=)
|
|
|
NM_001909.5(CTSD):c.894T>G (p.Thr298=)
|
|
|
NM_001909.5(CTSD):c.8C>A (p.Pro3His)
|
|
|
NM_001909.5(CTSD):c.8C>G (p.Pro3Arg)
|
|
|
NM_001909.5(CTSD):c.904G>T (p.Val302Leu)
|
rs749491748
|
|
NM_001909.5(CTSD):c.906G>A (p.Val302=)
|
|
|
NM_001909.5(CTSD):c.908_913del (p.Gly303_Pro304del)
|
|
|
NM_001909.5(CTSD):c.908_916del (p.Gly303_Val305del)
|
|
|
NM_001909.5(CTSD):c.908del (p.Gly303fs)
|
rs2133657906
|
|
NM_001909.5(CTSD):c.909C>T (p.Gly303=)
|
|
|
NM_001909.5(CTSD):c.914_947del (p.Val305fs)
|
|
|
NM_001909.5(CTSD):c.918T>C (p.Asp306=)
|
rs2133657880
|
|
NM_001909.5(CTSD):c.918T>G (p.Asp306Glu)
|
|
|
NM_001909.5(CTSD):c.924G>A (p.Val308=)
|
rs1554962286
|
|
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys)
|
rs373699222
|
|
NM_001909.5(CTSD):c.942C>T (p.Ala314=)
|
|
|
NM_001909.5(CTSD):c.949del (p.Ala317fs)
|
rs2133657826
|
|
NM_001909.5(CTSD):c.94A>G (p.Ile32Val)
|
|
|
NM_001909.5(CTSD):c.952G>A (p.Val318Met)
|
|
|
NM_001909.5(CTSD):c.952del (p.Val318fs)
|
|
|
NM_001909.5(CTSD):c.968G>A (p.Gly323Asp)
|
rs761766384
|
|
NM_001909.5(CTSD):c.970G>A (p.Glu324Lys)
|
|
|
NM_001909.5(CTSD):c.972+10_972+15del
|
|
|
NM_001909.5(CTSD):c.972+10_972+15dup
|
|
|
NM_001909.5(CTSD):c.972+12G>A
|
|
|
NM_001909.5(CTSD):c.972+13G>A
|
|
|
NM_001909.5(CTSD):c.972+14G>A
|
rs752075136
|
|
NM_001909.5(CTSD):c.972+14G>C
|
rs752075136
|
|
NM_001909.5(CTSD):c.972+14G>T
|
|
|
NM_001909.5(CTSD):c.972+15C>A
|
|
|
NM_001909.5(CTSD):c.972+15C>T
|
|
|
NM_001909.5(CTSD):c.972+18G>A
|
|
|
NM_001909.5(CTSD):c.972+1G>C
|
|
|
NM_001909.5(CTSD):c.972+4A>G
|
rs2133657784
|
|
NM_001909.5(CTSD):c.972+4_972+5dup
|
rs1386489811
|
|
NM_001909.5(CTSD):c.972+7G>C
|
|
|
NM_001909.5(CTSD):c.972+9C>G
|
rs746243061
|
|
NM_001909.5(CTSD):c.973-12G>A
|
|
|
NM_001909.5(CTSD):c.973-12G>C
|
|
|
NM_001909.5(CTSD):c.973-13T>C
|
|
|
NM_001909.5(CTSD):c.973-15T>C
|
|
|
NM_001909.5(CTSD):c.973-18T>G
|
|
|
NM_001909.5(CTSD):c.973-20A>G
|
|
|
NM_001909.5(CTSD):c.973-7C>T
|
|
|
NM_001909.5(CTSD):c.973-8C>A
|
rs886048064
|
|
NM_001909.5(CTSD):c.973-9C>T
|
|
|
NM_001909.5(CTSD):c.976A>G (p.Met326Val)
|
rs1425884068
|
|
NM_001909.5(CTSD):c.97C>T (p.Arg33Cys)
|
|
|
NM_001909.5(CTSD):c.982C>T (p.Pro328Ser)
|
rs796052397
|
|
NM_001909.5(CTSD):c.984_985del (p.Pro328_Cys329insTer)
|
|
|
NM_001909.5(CTSD):c.98G>A (p.Arg33His)
|
|
|
NM_001909.5(CTSD):c.993G>C (p.Lys331Asn)
|
rs1181418072
|
|
NM_001909.5(CTSD):c.996G>T (p.Val332=)
|
|
|
NM_001909.5(CTSD):c.999C>A (p.Ser333=)
|
rs755867394
|
|
NM_001909.5(CTSD):c.999C>T (p.Ser333=)
|
|
|
NM_006493.2(CLN5):c.101C>A (p.Pro34Gln)
|
|
|
NM_006493.2(CLN5):c.102G>A (p.Pro34=)
|
|
|
NM_006493.2(CLN5):c.102G>C (p.Pro34=)
|
|
|
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.111G>A (p.Gln37=)
|
rs1593906853
|
|
NM_006493.2(CLN5):c.116C>A (p.Ser39Ter)
|
rs61504484
|
|
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.16C>A (p.Arg6Ser)
|
|
|
NM_006493.2(CLN5):c.17G>T (p.Arg6Leu)
|
rs1391354551
|
|
NM_006493.2(CLN5):c.19T>C (p.Leu7=)
|
|
|
NM_006493.2(CLN5):c.20T>C (p.Leu7Ser)
|
|
|
NM_006493.2(CLN5):c.24G>T (p.Gly8=)
|
|
|
NM_006493.2(CLN5):c.25C>A (p.Pro9Thr)
|
|
|
NM_006493.2(CLN5):c.2T>A (p.Met1Lys)
|
rs201615354
|
|
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.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.42C>G (p.Asp14Glu)
|
rs1259746826
|
|
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.50G>A (p.Gly17Glu)
|
rs769990158
|
|
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.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.6C>G (p.Arg2=)
|
|
|
NM_006493.2(CLN5):c.78G>A (p.Ala26=)
|
|
|
NM_006493.2(CLN5):c.82C>T (p.Pro28Ser)
|
|
|
NM_006493.3(CLN5):c.-126G>T (p.Gly8Trp)
|
rs762873839
|
|
NM_006493.4(CLN5):c.-10G>C
|
rs1470454519
|
|
NM_006493.4(CLN5):c.-11G>A
|
rs774598730
|
|
NM_006493.4(CLN5):c.-13T>C
|
rs2034184700
|
|
NM_006493.4(CLN5):c.-1G>C
|
rs2154034238
|
|
NM_006493.4(CLN5):c.-23C>T
|
rs949213778
|
|
NM_006493.4(CLN5):c.-3C>T
|
rs1593906921
|
|
NM_006493.4(CLN5):c.-75C>G
|
rs754544785
|
|
NM_006493.4(CLN5):c.-7C>T
|
|
|
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.1014del (p.Phe338fs)
|
|
|
NM_006493.4(CLN5):c.1021A>G (p.Ile341Val)
|
|
|
NM_006493.4(CLN5):c.1022T>C (p.Ile341Thr)
|
|
|
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer)
|
rs386833969
|
|
NM_006493.4(CLN5):c.1038C>A (p.Ile346=)
|
|
|
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.1053A>G (p.Arg351=)
|
|
|
NM_006493.4(CLN5):c.1057A>G (p.Lys353Glu)
|
|
|
NM_006493.4(CLN5):c.105C>G (p.Leu35=)
|
|
|
NM_006493.4(CLN5):c.1065C>A (p.Leu355=)
|
rs1593915385
|
|
NM_006493.4(CLN5):c.1067_1068del (p.Ser356fs)
|
rs796052345
|
|
NM_006493.4(CLN5):c.1072T>C (p.Leu358=)
|
rs2154035221
|
|
NM_006493.4(CLN5):c.1074A>T (p.Leu358Phe)
|
rs1555274416
|
|
NM_006493.4(CLN5):c.107C>T (p.Ala36Val)
|
rs2154034272
|
|
NM_006493.4(CLN5):c.109del (p.Val37fs)
|
|
|
NM_006493.4(CLN5):c.112_113insATCCGGGCTGG (p.Val38fs)
|
rs1555273604
|
|
NM_006493.4(CLN5):c.112del (p.Val38fs)
|
rs2034190303
|
|
NM_006493.4(CLN5):c.114T>A (p.Val38=)
|
|
|
NM_006493.4(CLN5):c.114T>C (p.Val38=)
|
rs1453178211
|
|
NM_006493.4(CLN5):c.116C>T (p.Pro39Leu)
|
rs1285996011
|
|
NM_006493.4(CLN5):c.118G>C (p.Gly40Arg)
|
rs748399349
|
|
NM_006493.4(CLN5):c.11A>C (p.Glu4Ala)
|
|
|
NM_006493.4(CLN5):c.127C>T (p.Arg43Trp)
|
rs1213074445
|
|
NM_006493.4(CLN5):c.128G>A (p.Arg43Gln)
|
rs1282649970
|
|
NM_006493.4(CLN5):c.129G>C (p.Arg43=)
|
|
|
NM_006493.4(CLN5):c.12G>C (p.Glu4Asp)
|
|
|
NM_006493.4(CLN5):c.132C>T (p.Val44=)
|
|
|
NM_006493.4(CLN5):c.134C>T (p.Ser45Leu)
|
|
|
NM_006493.4(CLN5):c.135G>A (p.Ser45=)
|
|
|
NM_006493.4(CLN5):c.141C>A (p.Ile47=)
|
rs2034191533
|
|
NM_006493.4(CLN5):c.141C>T (p.Ile47=)
|
|
|
NM_006493.4(CLN5):c.144dup (p.Ser49fs)
|
rs386833970
|
|
NM_006493.4(CLN5):c.147C>T (p.Ser49=)
|
|
|
NM_006493.4(CLN5):c.149G>A (p.Arg50Gln)
|
|
|
NM_006493.4(CLN5):c.150G>C (p.Arg50=)
|
rs2034192027
|
|
NM_006493.4(CLN5):c.150G>T (p.Arg50=)
|
|
|
NM_006493.4(CLN5):c.153C>G (p.Arg51=)
|
rs909356586
|
|
NM_006493.4(CLN5):c.155_167del (p.His52fs)
|
rs1057517134
|
|
NM_006493.4(CLN5):c.156C>T (p.His52=)
|
|
|
NM_006493.4(CLN5):c.15A>G (p.Val5=)
|
rs2034185809
|
|
NM_006493.4(CLN5):c.162G>A (p.Pro54=)
|
rs754303449
|
|
NM_006493.4(CLN5):c.165G>A (p.Val55=)
|
|
|
NM_006493.4(CLN5):c.168del (p.Tyr57fs)
|
rs2154034292
|
|
NM_006493.4(CLN5):c.170A>G (p.Tyr57Cys)
|
|
|
NM_006493.4(CLN5):c.172A>G (p.Lys58Glu)
|
|
|
NM_006493.4(CLN5):c.173+11C>T
|
|
|
NM_006493.4(CLN5):c.173+12G>A
|
|
|
NM_006493.4(CLN5):c.173+12G>C
|
rs781182241
|
|
NM_006493.4(CLN5):c.173+13G>T
|
|
|
NM_006493.4(CLN5):c.173+13GC[6]
|
rs751801723
|
|
NM_006493.4(CLN5):c.173+15G>C
|
|
|
NM_006493.4(CLN5):c.173+16C>T
|
|
|
NM_006493.4(CLN5):c.173+1G>A
|
|
|
NM_006493.4(CLN5):c.173+1G>T
|
rs1739482158
|
|
NM_006493.4(CLN5):c.173+20C>T
|
|
|
NM_006493.4(CLN5):c.173+5G>A
|
rs2034192763
|
|
NM_006493.4(CLN5):c.173+7GCG[2]
|
rs2154034294
|
|
NM_006493.4(CLN5):c.173+9G>A
|
rs931635211
|
|
NM_006493.4(CLN5):c.173+9G>C
|
|
|
NM_006493.4(CLN5):c.173+9G>T
|
rs931635211
|
|
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.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.187del (p.Arg63fs)
|
rs1555273881
|
|
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro)
|
rs104894386
|
|
NM_006493.4(CLN5):c.188G>T (p.Arg63Leu)
|
|
|
NM_006493.4(CLN5):c.189T>C (p.Arg63=)
|
rs2154034624
|
|
NM_006493.4(CLN5):c.192A>G (p.Pro64=)
|
|
|
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.204T>G (p.Pro68=)
|
rs2154034627
|
|
NM_006493.4(CLN5):c.207_213del (p.Pro68_Tyr69insTer)
|
rs2034242246
|
|
NM_006493.4(CLN5):c.213A>G (p.Gln71=)
|
|
|
NM_006493.4(CLN5):c.215C>G (p.Ala72Gly)
|
|
|
NM_006493.4(CLN5):c.215C>T (p.Ala72Val)
|
rs2154034628
|
|
NM_006493.4(CLN5):c.216del (p.Lys73fs)
|
|
|
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.224C>T (p.Thr75Ile)
|
rs376336781
|
|
NM_006493.4(CLN5):c.228C>T (p.Phe76=)
|
|
|
NM_006493.4(CLN5):c.229T>A (p.Cys77Ser)
|
rs2034242824
|
|
NM_006493.4(CLN5):c.230G>A (p.Cys77Tyr)
|
rs267606738
|
|
NM_006493.4(CLN5):c.231T>C (p.Cys77=)
|
|
|
NM_006493.4(CLN5):c.236C>T (p.Thr79Ile)
|
|
|
NM_006493.4(CLN5):c.240C>T (p.Gly80=)
|
|
|
NM_006493.4(CLN5):c.242C>A (p.Ser81Ter)
|
|
|
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.24A>C (p.Ala8=)
|
rs757756318
|
|
NM_006493.4(CLN5):c.251_252del (p.Pro84fs)
|
rs2154034636
|
|
NM_006493.4(CLN5):c.270T>A (p.Asp90Glu)
|
rs898862493
|
|
NM_006493.4(CLN5):c.270T>C (p.Asp90=)
|
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.289T>C (p.Leu97=)
|
|
|
NM_006493.4(CLN5):c.291A>C (p.Leu97Phe)
|
rs2154034643
|
|
NM_006493.4(CLN5):c.303A>G (p.Val101=)
|
|
|
NM_006493.4(CLN5):c.303A>T (p.Val101=)
|
rs2154034645
|
|
NM_006493.4(CLN5):c.30C>A (p.Gly10=)
|
rs756651200
|
|
NM_006493.4(CLN5):c.30C>G (p.Gly10=)
|
|
|
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.335A>T (p.His112Leu)
|
|
|
NM_006493.4(CLN5):c.336C>G (p.His112Gln)
|
rs2034245418
|
|
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+1G>A
|
|
|
NM_006493.4(CLN5):c.339+1G>T
|
|
|
NM_006493.4(CLN5):c.339+7A>G
|
|
|
NM_006493.4(CLN5):c.339G>C (p.Leu113Phe)
|
rs147214555
|
|
NM_006493.4(CLN5):c.33C>G (p.Ala11=)
|
rs530381028
|
|
NM_006493.4(CLN5):c.33C>T (p.Ala11=)
|
|
|
NM_006493.4(CLN5):c.340-12G>A
|
rs1416088608
|
|
NM_006493.4(CLN5):c.340-1G>C
|
|
|
NM_006493.4(CLN5):c.340-1del
|
rs1057516390
|
|
NM_006493.4(CLN5):c.340-52_365delinsTAACGGG
|
|
|
NM_006493.4(CLN5):c.340-8T>C
|
rs2154034704
|
|
NM_006493.4(CLN5):c.347T>C (p.Met116Thr)
|
rs2154034705
|
|
NM_006493.4(CLN5):c.351T>C (p.His117=)
|
|
|
NM_006493.4(CLN5):c.354T>C (p.Asp118=)
|
|
|
NM_006493.4(CLN5):c.358A>G (p.Ile120Val)
|
rs1231886495
|
|
NM_006493.4(CLN5):c.359T>C (p.Ile120Thr)
|
|
|
NM_006493.4(CLN5):c.375A>G (p.Thr125=)
|
|
|
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter)
|
rs386833972
|
|
NM_006493.4(CLN5):c.37A>G (p.Met13Val)
|
|
|
NM_006493.4(CLN5):c.381T>A (p.Thr127=)
|
rs34481987
|
|
NM_006493.4(CLN5):c.387G>A (p.Lys129=)
|
|
|
NM_006493.4(CLN5):c.38T>C (p.Met13Thr)
|
rs1007145426
|
|
NM_006493.4(CLN5):c.391T>C (p.Tyr131His)
|
|
|
NM_006493.4(CLN5):c.393C>T (p.Tyr131=)
|
|
|
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.404G>A (p.Trp135Ter)
|
rs2154034716
|
|
NM_006493.4(CLN5):c.411A>G (p.Glu137=)
|
|
|
NM_006493.4(CLN5):c.422T>C (p.Leu141Pro)
|
|
|
NM_006493.4(CLN5):c.426C>G (p.Gly142=)
|
rs2034259868
|
|
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser)
|
rs386833975
|
|
NM_006493.4(CLN5):c.431_432del (p.Cys144fs)
|
|
|
NM_006493.4(CLN5):c.438del (p.His148fs)
|
rs1555273992
|
|
NM_006493.4(CLN5):c.43C>T (p.Arg15Trp)
|
rs772949539
|
|
NM_006493.4(CLN5):c.441C>G (p.Pro147=)
|
|
|
NM_006493.4(CLN5):c.441_442dup (p.His148fs)
|
|
|
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.447C>T (p.Leu149=)
|
rs1593911107
|
|
NM_006493.4(CLN5):c.449G>A (p.Arg150Gln)
|
rs1014000261
|
|
NM_006493.4(CLN5):c.450A>G (p.Arg150=)
|
|
|
NM_006493.4(CLN5):c.451C>T (p.Pro151Ser)
|
rs777080820
|
|
NM_006493.4(CLN5):c.45G>C (p.Arg15=)
|
|
|
NM_006493.4(CLN5):c.460G>C (p.Asp154His)
|
|
|
NM_006493.4(CLN5):c.462T>C (p.Asp154=)
|
rs2154034733
|
|
NM_006493.4(CLN5):c.464C>T (p.Ala155Val)
|
rs2154034734
|
|
NM_006493.4(CLN5):c.465C>T (p.Ala155=)
|
rs1480870613
|
|
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser)
|
rs386833977
|
|
NM_006493.4(CLN5):c.46G>A (p.Gly16Ser)
|
|
|
NM_006493.4(CLN5):c.475T>C (p.Cys159Arg)
|
rs2154034738
|
|
NM_006493.4(CLN5):c.47GCGCGG[3] (p.16GA[3])
|
rs1409904698
|
|
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.48C>A (p.Gly16=)
|
|
|
NM_006493.4(CLN5):c.48C>G (p.Gly16=)
|
|
|
NM_006493.4(CLN5):c.48C>T (p.Gly16=)
|
rs1448304779
|
|
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.500T>C (p.Phe167Ser)
|
rs1393893027
|
|
NM_006493.4(CLN5):c.513T>C (p.Asp171=)
|
|
|
NM_006493.4(CLN5):c.515A>G (p.Asp172Gly)
|
|
|
NM_006493.4(CLN5):c.51G>A (p.Ala17=)
|
|
|
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer)
|
rs587780315
|
|
NM_006493.4(CLN5):c.529G>T (p.Glu177Ter)
|
|
|
NM_006493.4(CLN5):c.534T>C (p.Asn178=)
|
rs1368956736
|
|
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.54C>T (p.Gly18=)
|
|
|
NM_006493.4(CLN5):c.550G>A (p.Val184Ile)
|
rs1566219289
|
|
NM_006493.4(CLN5):c.555A>G (p.Ala185=)
|
rs1422278737
|
|
NM_006493.4(CLN5):c.563C>T (p.Ser188Leu)
|
|
|
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.566-8dup
|
rs760343764
|
|
NM_006493.4(CLN5):c.566_*1548del (p.Gly189fs)
|
|
|
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.576C>T (p.Phe192=)
|
|
|
NM_006493.4(CLN5):c.580C>T (p.Gln194Ter)
|
rs2154035107
|
|
NM_006493.4(CLN5):c.587C>T (p.Ala196Val)
|
rs2034339472
|
|
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.599_600insCA (p.Lys200fs)
|
rs2154035111
|
|
NM_006493.4(CLN5):c.59C>T (p.Ala20Val)
|
|
|
NM_006493.4(CLN5):c.606C>T (p.Asp202=)
|
rs2154035112
|
|
NM_006493.4(CLN5):c.606_618del (p.Asp202fs)
|
|
|
NM_006493.4(CLN5):c.609T>C (p.Asn203=)
|
|
|
NM_006493.4(CLN5):c.615A>G (p.Thr205=)
|
rs769662577
|
|
NM_006493.4(CLN5):c.623_627del (p.Ile207_Tyr208insTer)
|
|
|
NM_006493.4(CLN5):c.625T>G (p.Tyr209Asp)
|
rs386833981
|
|
NM_006493.4(CLN5):c.627T>G (p.Tyr209Ter)
|
rs763980789
|
|
NM_006493.4(CLN5):c.62G>A (p.Arg21Gln)
|
rs2034188293
|
|
NM_006493.4(CLN5):c.636G>A (p.Trp212Ter)
|
|
|
NM_006493.4(CLN5):c.639T>C (p.Asn213=)
|
|
|
NM_006493.4(CLN5):c.63G>A (p.Arg21=)
|
rs1338752072
|
|
NM_006493.4(CLN5):c.63G>C (p.Arg21=)
|
rs1338752072
|
|
NM_006493.4(CLN5):c.653dup (p.Glu219fs)
|
|
|
NM_006493.4(CLN5):c.65G>A (p.Gly22Glu)
|
rs2034188434
|
|
NM_006493.4(CLN5):c.661G>C (p.Gly221Arg)
|
rs755669847
|
|
NM_006493.4(CLN5):c.666A>G (p.Ala222=)
|
rs1471280655
|
|
NM_006493.4(CLN5):c.669G>A (p.Glu223=)
|
|
|
NM_006493.4(CLN5):c.675G>A (p.Trp225Ter)
|
rs1555274338
|
|
NM_006493.4(CLN5):c.675G>C (p.Trp225Cys)
|
rs1555274338
|
|
NM_006493.4(CLN5):c.679del (p.Asp227fs)
|
rs2154035131
|
|
NM_006493.4(CLN5):c.687C>G (p.Tyr229Ter)
|
|
|
NM_006493.4(CLN5):c.69C>A (p.Arg23=)
|
|
|
NM_006493.4(CLN5):c.69C>T (p.Arg23=)
|
|
|
NM_006493.4(CLN5):c.6G>T (p.Ala2=)
|
|
|
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.705G>T (p.Val235=)
|
|
|
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.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.739G>A (p.Ala247Thr)
|
|
|
NM_006493.4(CLN5):c.743_744dup (p.Phe249fs)
|
|
|
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.75C>G (p.Ser25=)
|
rs2154034259
|
|
NM_006493.4(CLN5):c.762C>G (p.Thr254=)
|
rs1195593976
|
|
NM_006493.4(CLN5):c.762C>T (p.Thr254=)
|
|
|
NM_006493.4(CLN5):c.764dup (p.Asn255fs)
|
|
|
NM_006493.4(CLN5):c.768T>C (p.Tyr256=)
|
|
|
NM_006493.4(CLN5):c.768T>G (p.Tyr256Ter)
|
|
|
NM_006493.4(CLN5):c.771A>G (p.Thr257=)
|
rs2154035148
|
|
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.77G>C (p.Trp26Ser)
|
rs764790770
|
|
NM_006493.4(CLN5):c.786C>G (p.Tyr262Ter)
|
|
|
NM_006493.4(CLN5):c.788G>A (p.Ser263Asn)
|
rs730882146
|
|
NM_006493.4(CLN5):c.78G>A (p.Trp26Ter)
|
rs104894385
|
|
NM_006493.4(CLN5):c.793G>T (p.Glu265Ter)
|
rs764495616
|
|
NM_006493.4(CLN5):c.798T>C (p.Pro266=)
|
rs2034345081
|
|
NM_006493.4(CLN5):c.808_823del (p.Gly270fs)
|
rs386833983
|
|
NM_006493.4(CLN5):c.812del (p.Asn271fs)
|
rs2154035159
|
|
NM_006493.4(CLN5):c.818C>T (p.Thr273Ile)
|
|
|
NM_006493.4(CLN5):c.827_828del (p.Phe276fs)
|
rs2154035166
|
|
NM_006493.4(CLN5):c.838_841del (p.Gly280fs)
|
rs1555274365
|
|
NM_006493.4(CLN5):c.83G>A (p.Trp28Ter)
|
rs1242337070
|
|
NM_006493.4(CLN5):c.844_845dup (p.Thr283fs)
|
rs2034346369
|
|
NM_006493.4(CLN5):c.849T>C (p.Thr283=)
|
|
|
NM_006493.4(CLN5):c.84G>A (p.Trp28Ter)
|
rs200348035
|
|
NM_006493.4(CLN5):c.84_96dup (p.Leu33fs)
|
rs1271064370
|
|
NM_006493.4(CLN5):c.861C>T (p.Ala287=)
|
rs2154035176
|
|
NM_006493.4(CLN5):c.866A>G (p.Lys289Arg)
|
|
|
NM_006493.4(CLN5):c.867A>G (p.Lys289=)
|
rs2154035177
|
|
NM_006493.4(CLN5):c.875A>T (p.Tyr292Phe)
|
|
|
NM_006493.4(CLN5):c.87C>T (p.Ala29=)
|
|
|
NM_006493.4(CLN5):c.882dup (p.Phe295fs)
|
|
|
NM_006493.4(CLN5):c.885C>G (p.Phe295Leu)
|
rs772050001
|
|
NM_006493.4(CLN5):c.889C>A (p.Pro297Thr)
|
|
|
NM_006493.4(CLN5):c.891A>G (p.Pro297=)
|
rs2154035180
|
|
NM_006493.4(CLN5):c.902C>A (p.Thr301Asn)
|
rs1298505272
|
|
NM_006493.4(CLN5):c.903T>C (p.Thr301=)
|
rs1161385670
|
|
NM_006493.4(CLN5):c.907G>T (p.Glu303Ter)
|
rs121908292
|
|
NM_006493.4(CLN5):c.913_914del (p.Leu305fs)
|
rs2154035183
|
|
NM_006493.4(CLN5):c.915G>T (p.Leu305=)
|
|
|
NM_006493.4(CLN5):c.917del (p.Leu305_Leu306insTer)
|
rs1555274373
|
|
NM_006493.4(CLN5):c.921T>C (p.Ser307=)
|
|
|
NM_006493.4(CLN5):c.924_925del (p.Leu309fs)
|
rs386833964
|
|
NM_006493.4(CLN5):c.928C>G (p.Gln310Glu)
|
|
|
NM_006493.4(CLN5):c.92C>A (p.Ala31Glu)
|
rs766858440
|
|
NM_006493.4(CLN5):c.92C>T (p.Ala31Val)
|
|
|
NM_006493.4(CLN5):c.936T>G (p.Phe312Leu)
|
rs2154035192
|
|
NM_006493.4(CLN5):c.936del (p.Phe312fs)
|
rs386833966
|
|
NM_006493.4(CLN5):c.93G>T (p.Ala31=)
|
rs971404954
|
|
NM_006493.4(CLN5):c.947T>G (p.Ile316Ser)
|
|
|
NM_006493.4(CLN5):c.94C>T (p.Leu32=)
|
|
|
NM_006493.4(CLN5):c.951G>A (p.Val317=)
|
rs369238431
|
|
NM_006493.4(CLN5):c.954C>T (p.His318=)
|
|
|
NM_006493.4(CLN5):c.955A>G (p.Lys319Glu)
|
rs202171514
|
|
NM_006493.4(CLN5):c.955_956delinsCG (p.Lys319Arg)
|
rs2034348880
|
|
NM_006493.4(CLN5):c.956_957del (p.Lys319fs)
|
rs2154035196
|
|
NM_006493.4(CLN5):c.956_959del (p.Lys319fs)
|
rs386833967
|
|
NM_006493.4(CLN5):c.957A>G (p.Lys319=)
|
rs1422809171
|
|
NM_006493.4(CLN5):c.958C>G (p.Gln320Glu)
|
|
|
NM_006493.4(CLN5):c.958C>T (p.Gln320Ter)
|
rs750935331
|
|
NM_006493.4(CLN5):c.959A>G (p.Gln320Arg)
|
|
|
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.969G>A (p.Leu323=)
|
|
|
NM_006493.4(CLN5):c.96G>A (p.Leu32=)
|
rs2154034270
|
|
NM_006493.4(CLN5):c.96G>T (p.Leu32=)
|
rs2154034270
|
|
NM_006493.4(CLN5):c.975T>C (p.Tyr325=)
|
|
|
NM_006493.4(CLN5):c.978T>C (p.Asn326=)
|
rs2154035200
|
|
NM_006493.4(CLN5):c.982G>T (p.Glu328Ter)
|
rs2154035204
|
|
NM_006493.4(CLN5):c.984A>G (p.Glu328=)
|
rs1593915252
|
|
NM_006493.4(CLN5):c.987T>G (p.Tyr329Ter)
|
rs2034349886
|
|
NM_006493.4(CLN5):c.989G>A (p.Trp330Ter)
|
|
|
NM_006493.4(CLN5):c.98T>A (p.Leu33His)
|
|
|
NM_006493.4(CLN5):c.990G>A (p.Trp330Ter)
|
rs386833968
|
|
NM_006493.4(CLN5):c.990G>T (p.Trp330Cys)
|
rs386833968
|
|
NM_017882.3(CLN6):c.105T>C (p.Asp35=)
|
|
|
NM_017882.3(CLN6):c.108G>T (p.Glu36Asp)
|
rs1226528243
|
|
NM_017882.3(CLN6):c.112G>T (p.Ala38Ser)
|
|
|
NM_017882.3(CLN6):c.114C>T (p.Ala38=)
|
rs1219136331
|
|
NM_017882.3(CLN6):c.115C>G (p.Arg39Gly)
|
rs142260866
|
|
NM_017882.3(CLN6):c.115C>T (p.Arg39Cys)
|
rs142260866
|
|
NM_017882.3(CLN6):c.116G>A (p.Arg39His)
|
rs779456928
|
|
NM_017882.3(CLN6):c.117C>A (p.Arg39=)
|
|
|
NM_017882.3(CLN6):c.119C>A (p.Thr40Lys)
|
rs769199442
|
|
NM_017882.3(CLN6):c.119C>T (p.Thr40Met)
|
rs769199442
|
|
NM_017882.3(CLN6):c.121del (p.Ala41fs)
|
rs2141145116
|
|
NM_017882.3(CLN6):c.123T>A (p.Ala41=)
|
rs2141145111
|
|
NM_017882.3(CLN6):c.124C>G (p.Pro42Ala)
|
rs1003606439
|
|
NM_017882.3(CLN6):c.12G>A (p.Thr4=)
|
|
|
NM_017882.3(CLN6):c.132C>T (p.His44=)
|
|
|
NM_017882.3(CLN6):c.135C>A (p.Leu45=)
|
|
|
NM_017882.3(CLN6):c.135C>T (p.Leu45=)
|
rs374577694
|
|
NM_017882.3(CLN6):c.138C>T (p.Asp46=)
|
rs1595821372
|
|
NM_017882.3(CLN6):c.13C>A (p.Arg5=)
|
rs886285802
|
|
NM_017882.3(CLN6):c.141C>T (p.Leu47=)
|
|
|
NM_017882.3(CLN6):c.146T>A (p.Phe49Tyr)
|
|
|
NM_017882.3(CLN6):c.149_150insATCCT (p.Tyr50Ter)
|
rs2141145071
|
|
NM_017882.3(CLN6):c.14G>A (p.Arg5Gln)
|
rs2093262797
|
|
NM_017882.3(CLN6):c.161A>G (p.Gln54Arg)
|
rs2093226926
|
|
NM_017882.3(CLN6):c.163A>T (p.Asn55Tyr)
|
|
|
NM_017882.3(CLN6):c.168G>A (p.Trp56Ter)
|
|
|
NM_017882.3(CLN6):c.180_181del (p.Phe60fs)
|
|
|
NM_017882.3(CLN6):c.180dup (p.Gly61fs)
|
|
|
NM_017882.3(CLN6):c.183del (p.Arg62fs)
|
|
|
NM_017882.3(CLN6):c.185G>A (p.Arg62His)
|
rs751486476
|
|
NM_017882.3(CLN6):c.190A>G (p.Ile64Val)
|
|
|
NM_017882.3(CLN6):c.195C>A (p.Ala65=)
|
|
|
NM_017882.3(CLN6):c.195C>T (p.Ala65=)
|
rs1472031434
|
|
NM_017882.3(CLN6):c.196A>G (p.Met66Val)
|
rs1430705796
|
|
NM_017882.3(CLN6):c.196dup (p.Met66fs)
|
rs2141145023
|
|
NM_017882.3(CLN6):c.198+11A>C
|
|
|
NM_017882.3(CLN6):c.198+12A>G
|
|
|
NM_017882.3(CLN6):c.198+17G>A
|
|
|
NM_017882.3(CLN6):c.198+19A>C
|
|
|
NM_017882.3(CLN6):c.198+20C>T
|
|
|
NM_017882.3(CLN6):c.198+3G>C
|
|
|
NM_017882.3(CLN6):c.198+5G>A
|
|
|
NM_017882.3(CLN6):c.199-12T>C
|
|
|
NM_017882.3(CLN6):c.199-12T>G
|
|
|
NM_017882.3(CLN6):c.199-13A>G
|
|
|
NM_017882.3(CLN6):c.199-14C>A
|
|
|
NM_017882.3(CLN6):c.199-14C>T
|
|
|
NM_017882.3(CLN6):c.199-14del
|
|
|
NM_017882.3(CLN6):c.199-16T>A
|
|
|
NM_017882.3(CLN6):c.199-19dup
|
rs1567096664
|
|
NM_017882.3(CLN6):c.199-6C>G
|
|
|
NM_017882.3(CLN6):c.199-6C>T
|
|
|
NM_017882.3(CLN6):c.199-7T>C
|
|
|
NM_017882.3(CLN6):c.1A>C (p.Met1Leu)
|
|
|
NM_017882.3(CLN6):c.202G>C (p.Val68Leu)
|
|
|
NM_017882.3(CLN6):c.204A>T (p.Val68=)
|
|
|
NM_017882.3(CLN6):c.207C>T (p.Phe69=)
|
rs2093214789
|
|
NM_017882.3(CLN6):c.212T>G (p.Leu71Arg)
|
rs1450871754
|
|
NM_017882.3(CLN6):c.213C>G (p.Leu71=)
|
rs146980624
|
|
NM_017882.3(CLN6):c.214G>A (p.Glu72Lys)
|
rs104894483
|
|
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter)
|
rs104894483
|
|
NM_017882.3(CLN6):c.216G>A (p.Glu72=)
|
|
|
NM_017882.3(CLN6):c.219G>A (p.Trp73Ter)
|
|
|
NM_017882.3(CLN6):c.21G>A (p.Arg7=)
|
rs2093262736
|
|
NM_017882.3(CLN6):c.224C>T (p.Pro75Leu)
|
rs1595819607
|
|
NM_017882.3(CLN6):c.225A>C (p.Pro75=)
|
|
|
NM_017882.3(CLN6):c.225A>G (p.Pro75=)
|
rs544291935
|
|
NM_017882.3(CLN6):c.230A>C (p.Asn77Thr)
|
rs776974644
|
|
NM_017882.3(CLN6):c.247dup (p.Asp83fs)
|
|
|
NM_017882.3(CLN6):c.24G>A (p.Gln8=)
|
|
|
NM_017882.3(CLN6):c.252C>T (p.Tyr84=)
|
rs2141141480
|
|
NM_017882.3(CLN6):c.255C>T (p.Phe85=)
|
|
|
NM_017882.3(CLN6):c.266_267insAATCCTA (p.Tyr89Ter)
|
|
|
NM_017882.3(CLN6):c.268A>G (p.Asn90Asp)
|
rs2093214490
|
|
NM_017882.3(CLN6):c.268_271dup (p.Val91fs)
|
rs786205067
|
|
NM_017882.3(CLN6):c.269A>T (p.Asn90Ile)
|
rs2141141464
|
|
NM_017882.3(CLN6):c.270C>A (p.Asn90Lys)
|
|
|
NM_017882.3(CLN6):c.276C>G (p.Ile92Met)
|
|
|
NM_017882.3(CLN6):c.27C>T (p.His9=)
|
rs2141156267
|
|
NM_017882.3(CLN6):c.284T>C (p.Phe95Ser)
|
|
|
NM_017882.3(CLN6):c.288C>G (p.Leu96=)
|
rs2141141422
|
|
NM_017882.3(CLN6):c.288C>T (p.Leu96=)
|
|
|
NM_017882.3(CLN6):c.289_290dup (p.Leu97fs)
|
rs2141141420
|
|
NM_017882.3(CLN6):c.28C>G (p.Leu10Val)
|
rs1457277891
|
|
NM_017882.3(CLN6):c.28C>T (p.Leu10=)
|
rs1457277891
|
|
NM_017882.3(CLN6):c.291G>A (p.Leu97=)
|
|
|
NM_017882.3(CLN6):c.294C>G (p.Leu98=)
|
rs2141141419
|
|
NM_017882.3(CLN6):c.297+17C>T
|
|
|
NM_017882.3(CLN6):c.297+18C>G
|
|
|
NM_017882.3(CLN6):c.297+19del
|
rs61224699
|
|
NM_017882.3(CLN6):c.297+1G>A
|
rs796052351
|
|
NM_017882.3(CLN6):c.297+4C>T
|
rs1030759897
|
|
NM_017882.3(CLN6):c.297+9C>T
|
rs1258135795
|
|
NM_017882.3(CLN6):c.297G>C (p.Lys99Asn)
|
|
|
NM_017882.3(CLN6):c.298-13C>T
|
|
|
NM_017882.3(CLN6):c.298-14A>T
|
|
|
NM_017882.3(CLN6):c.298-16C>A
|
|
|
NM_017882.3(CLN6):c.298-17C>G
|
|
|
NM_017882.3(CLN6):c.298-1G>C
|
rs1595818391
|
|
NM_017882.3(CLN6):c.298-20A>C
|
|
|
NM_017882.3(CLN6):c.298-3del
|
rs1567095944
|
|
NM_017882.3(CLN6):c.298-8A>T
|
rs2141139490
|
|
NM_017882.3(CLN6):c.299T>G (p.Leu100Arg)
|
rs1555438702
|
|
NM_017882.3(CLN6):c.300C>T (p.Leu100=)
|
|
|
NM_017882.3(CLN6):c.303C>T (p.Ile101=)
|
rs1369226101
|
|
NM_017882.3(CLN6):c.309G>A (p.Arg103=)
|
|
|
NM_017882.3(CLN6):c.309G>T (p.Arg103=)
|
rs2141139457
|
|
NM_017882.3(CLN6):c.311C>T (p.Ser104Phe)
|
rs777921628
|
|
NM_017882.3(CLN6):c.314C>T (p.Pro105Leu)
|
rs769747737
|
|
NM_017882.3(CLN6):c.316C>G (p.Arg106Gly)
|
|
|
NM_017882.3(CLN6):c.316dup (p.Arg106fs)
|
rs397515352
|
|
NM_017882.3(CLN6):c.321C>T (p.Thr107=)
|
rs755184214
|
|
NM_017882.3(CLN6):c.324G>T (p.Leu108=)
|
rs2093206574
|
|
NM_017882.3(CLN6):c.329G>T (p.Arg110Leu)
|
rs140179213
|
|
NM_017882.3(CLN6):c.32G>C (p.Gly11Ala)
|
rs2093262694
|
|
NM_017882.3(CLN6):c.330C>T (p.Arg110=)
|
|
|
NM_017882.3(CLN6):c.333C>T (p.Ser111=)
|
rs995775001
|
|
NM_017882.3(CLN6):c.33A>G (p.Gly11=)
|
rs2141156259
|
|
NM_017882.3(CLN6):c.342C>A (p.Tyr114Ter)
|
|
|
NM_017882.3(CLN6):c.342C>T (p.Tyr114=)
|
rs765719755
|
|
NM_017882.3(CLN6):c.351C>T (p.Ile117=)
|
|
|
NM_017882.3(CLN6):c.354C>T (p.Ile118=)
|
rs1555438691
|
|
NM_017882.3(CLN6):c.358_366del (p.Phe120_Met122del)
|
rs1401381423
|
|
NM_017882.3(CLN6):c.360C>A (p.Phe120Leu)
|
rs1362402324
|
|
NM_017882.3(CLN6):c.363C>G (p.Ile121Met)
|
rs148547876
|
|
NM_017882.3(CLN6):c.363C>T (p.Ile121=)
|
|
|
NM_017882.3(CLN6):c.364A>G (p.Met122Val)
|
|
|
NM_017882.3(CLN6):c.365T>C (p.Met122Thr)
|
rs2093206265
|
|
NM_017882.3(CLN6):c.366G>C (p.Met122Ile)
|
|
|
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp)
|
rs104894484
|
|
NM_017882.3(CLN6):c.371C>T (p.Ala124Val)
|
rs1567095879
|
|
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly)
|
rs772893554
|
|
NM_017882.3(CLN6):c.375C>T (p.Ser125=)
|
rs2093206218
|
|
NM_017882.3(CLN6):c.377T>C (p.Ile126Thr)
|
rs2141139324
|
|
NM_017882.3(CLN6):c.384G>A (p.Leu128=)
|
|
|
NM_017882.3(CLN6):c.388G>A (p.Gly130Ser)
|
|
|
NM_017882.3(CLN6):c.395_396del (p.Ser132fs)
|
rs774543080
|
|
NM_017882.3(CLN6):c.396T>G (p.Ser132=)
|
rs949403836
|
|
NM_017882.3(CLN6):c.397_398del (p.Val133fs)
|
rs766493088
|
|
NM_017882.3(CLN6):c.39G>C (p.Thr13=)
|
|
|
NM_017882.3(CLN6):c.3G>A (p.Met1Ile)
|
rs2093262869
|
|
NM_017882.3(CLN6):c.401A>G (p.Asn134Ser)
|
|
|
NM_017882.3(CLN6):c.403C>G (p.His135Asp)
|
|
|
NM_017882.3(CLN6):c.405C>T (p.His135=)
|
|
|
NM_017882.3(CLN6):c.406C>T (p.Arg136Cys)
|
rs1012449574
|
|
NM_017882.3(CLN6):c.407del (p.Arg136fs)
|
|
|
NM_017882.3(CLN6):c.40G>A (p.Gly14Ser)
|
rs2093262651
|
|
NM_017882.3(CLN6):c.410T>A (p.Leu137Gln)
|
|
|
NM_017882.3(CLN6):c.411G>A (p.Leu137=)
|
rs748062705
|
|
NM_017882.3(CLN6):c.412C>T (p.Leu138Phe)
|
|
|
NM_017882.3(CLN6):c.414C>G (p.Leu138=)
|
|
|
NM_017882.3(CLN6):c.414C>T (p.Leu138=)
|
rs2093206040
|
|
NM_017882.3(CLN6):c.424dup (p.Tyr142fs)
|
|
|
NM_017882.3(CLN6):c.426C>G (p.Tyr142Ter)
|
|
|
NM_017882.3(CLN6):c.426C>T (p.Tyr142=)
|
rs768766915
|
|
NM_017882.3(CLN6):c.429G>A (p.Gln143=)
|
|
|
NM_017882.3(CLN6):c.431A>G (p.His144Arg)
|
rs1595818258
|
|
NM_017882.3(CLN6):c.441T>G (p.Ser147=)
|
rs1595818241
|
|
NM_017882.3(CLN6):c.444C>G (p.Val148=)
|
rs2141139200
|
|
NM_017882.3(CLN6):c.444C>T (p.Val148=)
|
|
|
NM_017882.3(CLN6):c.455C>G (p.Pro152Arg)
|
rs2141139183
|
|
NM_017882.3(CLN6):c.456C>A (p.Pro152=)
|
rs2141139176
|
|
NM_017882.3(CLN6):c.456del (p.Ile153fs)
|
|
|
NM_017882.3(CLN6):c.45C>T (p.Gly15=)
|
|
|
NM_017882.3(CLN6):c.462C>T (p.Ile154=)
|
rs2141139170
|
|
NM_017882.3(CLN6):c.465G>A (p.Lys155=)
|
|
|
NM_017882.3(CLN6):c.471C>G (p.Leu157=)
|
|
|
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu)
|
rs919850756
|
|
NM_017882.3(CLN6):c.483G>A (p.Thr161=)
|
rs2141139146
|
|
NM_017882.3(CLN6):c.483G>T (p.Thr161=)
|
rs2141139146
|
|
NM_017882.3(CLN6):c.486+11C>A
|
|
|
NM_017882.3(CLN6):c.486+11C>T
|
|
|
NM_017882.3(CLN6):c.486+12T>G
|
|
|
NM_017882.3(CLN6):c.486+13C>T
|
|
|
NM_017882.3(CLN6):c.486+15dup
|
|
|
NM_017882.3(CLN6):c.486+16G>A
|
|
|
NM_017882.3(CLN6):c.486+16dup
|
|
|
NM_017882.3(CLN6):c.486+17C>A
|
|
|
NM_017882.3(CLN6):c.486+19C>G
|
|
|
NM_017882.3(CLN6):c.486+1G>C
|
rs756522171
|
|
NM_017882.3(CLN6):c.486+7C>G
|
rs1481891129
|
|
NM_017882.3(CLN6):c.486+8C>A
|
rs149692285
|
|
NM_017882.3(CLN6):c.487-10C>G
|
|
|
NM_017882.3(CLN6):c.487-10C>T
|
rs778284215
|
|
NM_017882.3(CLN6):c.487-12T>A
|
rs571940397
|
|
NM_017882.3(CLN6):c.487-19C>T
|
rs2141138841
|
|
NM_017882.3(CLN6):c.487-1G>T
|
|
|
NM_017882.3(CLN6):c.487-5C>A
|
|
|
NM_017882.3(CLN6):c.487-7C>A
|
|
|
NM_017882.3(CLN6):c.487-7C>G
|
rs2141138813
|
|
NM_017882.3(CLN6):c.487-7C>T
|
rs2141138813
|
|
NM_017882.3(CLN6):c.487-9C>G
|
|
|
NM_017882.3(CLN6):c.48A>C (p.Pro16=)
|
|
|
NM_017882.3(CLN6):c.490G>A (p.Asp164Asn)
|
rs779685727
|
|
NM_017882.3(CLN6):c.493T>C (p.Ser165Pro)
|
|
|
NM_017882.3(CLN6):c.494C>T (p.Ser165Phe)
|
rs1595818025
|
|
NM_017882.3(CLN6):c.495C>T (p.Ser165=)
|
|
|
NM_017882.3(CLN6):c.497T>C (p.Phe166Ser)
|
rs2093204354
|
|
NM_017882.3(CLN6):c.498dup (p.Glu167Ter)
|
rs762902907
|
|
NM_017882.3(CLN6):c.4G>A (p.Glu2Lys)
|
rs796052360
|
|
NM_017882.3(CLN6):c.501G>A (p.Glu167=)
|
|
|
NM_017882.3(CLN6):c.502C>T (p.Leu168=)
|
rs2141138776
|
|
NM_017882.3(CLN6):c.504G>A (p.Leu168=)
|
|
|
NM_017882.3(CLN6):c.506T>A (p.Leu169His)
|
rs1344658850
|
|
NM_017882.3(CLN6):c.507C>T (p.Leu169=)
|
rs1273285939
|
|
NM_017882.3(CLN6):c.510C>A (p.Tyr170Ter)
|
|
|
NM_017882.3(CLN6):c.516TGA[1] (p.Asp173del)
|
rs916824303
|
|
NM_017882.3(CLN6):c.519T>C (p.Asp173=)
|
rs756942559
|
|
NM_017882.3(CLN6):c.525C>T (p.Tyr175=)
|
|
|
NM_017882.3(CLN6):c.526C>T (p.Leu176=)
|
rs2141138733
|
|
NM_017882.3(CLN6):c.528G>A (p.Leu176=)
|
rs2141138731
|
|
NM_017882.3(CLN6):c.528G>C (p.Leu176=)
|
rs2141138731
|
|
NM_017882.3(CLN6):c.542+11G>A
|
|
|
NM_017882.3(CLN6):c.542+12G>T
|
|
|
NM_017882.3(CLN6):c.542+13C>G
|
|
|
NM_017882.3(CLN6):c.542+13C>T
|
|
|
NM_017882.3(CLN6):c.542+14C>T
|
|
|
NM_017882.3(CLN6):c.542+15del
|
|
|
NM_017882.3(CLN6):c.542+16A>T
|
|
|
NM_017882.3(CLN6):c.542+20G>A
|
|
|
NM_017882.3(CLN6):c.542+2T>C
|
|
|
NM_017882.3(CLN6):c.542+5G>T
|
rs786205066
|
|
NM_017882.3(CLN6):c.542G>A (p.Trp181Ter)
|
rs1380684360
|
|
NM_017882.3(CLN6):c.543-10C>A
|
rs767297743
|
|
NM_017882.3(CLN6):c.543-13C>G
|
|
|
NM_017882.3(CLN6):c.543-17T>C
|
|
|
NM_017882.3(CLN6):c.543-19A>G
|
|
|
NM_017882.3(CLN6):c.543-2A>G
|
rs2141137336
|
|
NM_017882.3(CLN6):c.543-8T>C
|
|
|
NM_017882.3(CLN6):c.543G>A (p.Trp181Ter)
|
rs1555438443
|
|
NM_017882.3(CLN6):c.546C>T (p.Tyr182=)
|
rs751550252
|
|
NM_017882.3(CLN6):c.546del (p.Trp181_Tyr182insTer)
|
|
|
NM_017882.3(CLN6):c.54G>A (p.Ala18=)
|
rs1199248099
|
|
NM_017882.3(CLN6):c.551C>T (p.Pro184Leu)
|
|
|
NM_017882.3(CLN6):c.552C>T (p.Pro184=)
|
rs1595817219
|
|
NM_017882.3(CLN6):c.553T>G (p.Phe185Val)
|
rs2093199272
|
|
NM_017882.3(CLN6):c.553TTC[1] (p.Phe186del)
|
rs2141137304
|
|
NM_017882.3(CLN6):c.555C>T (p.Phe185=)
|
rs1595817218
|
|
NM_017882.3(CLN6):c.559C>T (p.Leu187Phe)
|
rs764670832
|
|
NM_017882.3(CLN6):c.563T>C (p.Ile188Thr)
|
rs763059017
|
|
NM_017882.3(CLN6):c.564C>T (p.Ile188=)
|
rs371326037
|
|
NM_017882.3(CLN6):c.565C>T (p.Leu189Phe)
|
|
|
NM_017882.3(CLN6):c.567C>T (p.Leu189=)
|
rs762214934
|
|
NM_017882.3(CLN6):c.570_572del (p.Phe190_Met191delinsLeu)
|
|
|
NM_017882.3(CLN6):c.571A>G (p.Met191Val)
|
rs1555438435
|
|
NM_017882.3(CLN6):c.57G>C (p.Gln19His)
|
rs2093262571
|
|
NM_017882.3(CLN6):c.583_596del (p.Gly195fs)
|
rs2093199030
|
|
NM_017882.3(CLN6):c.588C>T (p.Cys196=)
|
rs770515770
|
|
NM_017882.3(CLN6):c.597C>A (p.Ala199=)
|
|
|
NM_017882.3(CLN6):c.601A>T (p.Lys201Ter)
|
|
|
NM_017882.3(CLN6):c.602A>C (p.Lys201Thr)
|
rs2141137255
|
|
NM_017882.3(CLN6):c.606T>C (p.Ala202=)
|
|
|
NM_017882.3(CLN6):c.609G>A (p.Glu203=)
|
rs1026588122
|
|
NM_017882.3(CLN6):c.60G>C (p.Leu20=)
|
|
|
NM_017882.3(CLN6):c.613T>C (p.Leu205=)
|
|
|
NM_017882.3(CLN6):c.617T>C (p.Ile206Thr)
|
rs2141137247
|
|
NM_017882.3(CLN6):c.61_62insCGG (p.Leu20_Gly21insAla)
|
rs878855040
|
|
NM_017882.3(CLN6):c.623G>A (p.Gly208Glu)
|
rs2141137239
|
|
NM_017882.3(CLN6):c.624G>A (p.Gly208=)
|
|
|
NM_017882.3(CLN6):c.625C>T (p.Pro209Ser)
|
rs1064794559
|
|
NM_017882.3(CLN6):c.631C>T (p.Leu211=)
|
|
|
NM_017882.3(CLN6):c.633G>T (p.Leu211=)
|
|
|
NM_017882.3(CLN6):c.636C>T (p.Leu212=)
|
rs758612277
|
|
NM_017882.3(CLN6):c.640G>A (p.Val214Met)
|
|
|
NM_017882.3(CLN6):c.642G>A (p.Val214=)
|
|
|
NM_017882.3(CLN6):c.649A>G (p.Ser217Gly)
|
rs1567095087
|
|
NM_017882.3(CLN6):c.64G>A (p.Ala22Thr)
|
rs527373013
|
|
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser)
|
rs527373013
|
|
NM_017882.3(CLN6):c.653G>A (p.Gly218Asp)
|
rs1160988895
|
|
NM_017882.3(CLN6):c.653G>T (p.Gly218Val)
|
rs1160988895
|
|
NM_017882.3(CLN6):c.655C>T (p.Leu219=)
|
|
|
NM_017882.3(CLN6):c.655del (p.Leu219fs)
|
rs2141137200
|
|
NM_017882.3(CLN6):c.657G>A (p.Leu219=)
|
rs1363322956
|
|
NM_017882.3(CLN6):c.658_665del (p.Tyr220fs)
|
|
|
NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys)
|
rs764571295
|
|
NM_017882.3(CLN6):c.665+10C>T
|
rs1254894871
|
|
NM_017882.3(CLN6):c.665+11A>T
|
|
|
NM_017882.3(CLN6):c.665+12T>A
|
|
|
NM_017882.3(CLN6):c.665+14A>T
|
|
|
NM_017882.3(CLN6):c.665+18T>C
|
|
|
NM_017882.3(CLN6):c.665+18T>G
|
|
|
NM_017882.3(CLN6):c.665+19G>A
|
|
|
NM_017882.3(CLN6):c.665+1G>A
|
rs796052356
|
|
NM_017882.3(CLN6):c.665+7G>A
|
|
|
NM_017882.3(CLN6):c.666-12T>C
|
|
|
NM_017882.3(CLN6):c.666-15C>T
|
|
|
NM_017882.3(CLN6):c.666-16C>T
|
rs2141136181
|
|
NM_017882.3(CLN6):c.666-19_666-16del
|
|
|
NM_017882.3(CLN6):c.666-4C>T
|
rs2141136177
|
|
NM_017882.3(CLN6):c.666-5T>C
|
|
|
NM_017882.3(CLN6):c.666-5T>G
|
|
|
NM_017882.3(CLN6):c.666-9C>T
|
|
|
NM_017882.3(CLN6):c.667T>C (p.Tyr223His)
|
rs2093194324
|
|
NM_017882.3(CLN6):c.669C>T (p.Tyr223=)
|
|
|
NM_017882.3(CLN6):c.66C>T (p.Ala22=)
|
rs796052349
|
|
NM_017882.3(CLN6):c.66del (p.Ser23fs)
|
rs2093262507
|
|
NM_017882.3(CLN6):c.670C>T (p.Leu224=)
|
|
|
NM_017882.3(CLN6):c.672G>T (p.Leu224=)
|
|
|
NM_017882.3(CLN6):c.675C>A (p.Val225=)
|
|
|
NM_017882.3(CLN6):c.675C>T (p.Val225=)
|
|
|
NM_017882.3(CLN6):c.678C>G (p.Thr226=)
|
rs374744816
|
|
NM_017882.3(CLN6):c.681G>A (p.Glu227=)
|
rs1486759204
|
|
NM_017882.3(CLN6):c.683G>A (p.Gly228Asp)
|
|
|
NM_017882.3(CLN6):c.684C>A (p.Gly228=)
|
rs1209133488
|
|
NM_017882.3(CLN6):c.685C>G (p.Gln229Glu)
|
|
|
NM_017882.3(CLN6):c.68C>A (p.Ser23Tyr)
|
|
|
NM_017882.3(CLN6):c.690C>A (p.Ile230=)
|
|
|
NM_017882.3(CLN6):c.696C>G (p.Ile232Met)
|
rs2141136135
|
|
NM_017882.3(CLN6):c.69C>T (p.Ser23=)
|
|
|
NM_017882.3(CLN6):c.701T>C (p.Phe234Ser)
|
rs2141136125
|
|
NM_017882.3(CLN6):c.706T>G (p.Phe236Val)
|
rs796052358
|
|
NM_017882.3(CLN6):c.711C>T (p.Thr237=)
|
rs2141136113
|
|
NM_017882.3(CLN6):c.712_713delinsAC (p.Phe238Thr)
|
rs2141136108
|
|
NM_017882.3(CLN6):c.717C>T (p.Phe239=)
|
rs745850620
|
|
NM_017882.3(CLN6):c.720C>T (p.Ala240=)
|
|
|
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.723G>C (p.Met241Ile)
|
|
|
NM_017882.3(CLN6):c.724C>T (p.Leu242=)
|
rs2093194081
|
|
NM_017882.3(CLN6):c.730C>G (p.Leu244Val)
|
rs2093194059
|
|
NM_017882.3(CLN6):c.733G>A (p.Val245Ile)
|
rs377192977
|
|
NM_017882.3(CLN6):c.735C>G (p.Val245=)
|
|
|
NM_017882.3(CLN6):c.739del (p.His247fs)
|
|
|
NM_017882.3(CLN6):c.73C>T (p.Leu25=)
|
|
|
NM_017882.3(CLN6):c.746A>C (p.Lys249Thr)
|
|
|
NM_017882.3(CLN6):c.747G>A (p.Lys249=)
|
rs2093194013
|
|
NM_017882.3(CLN6):c.753G>A (p.Lys251=)
|
|
|
NM_017882.3(CLN6):c.756C>T (p.Arg252=)
|
|
|
NM_017882.3(CLN6):c.757C>T (p.Leu253Phe)
|
rs1274562752
|
|
NM_017882.3(CLN6):c.759C>G (p.Leu253=)
|
rs1567094628
|
|
NM_017882.3(CLN6):c.759C>T (p.Leu253=)
|
rs1567094628
|
|
NM_017882.3(CLN6):c.75G>A (p.Leu25=)
|
|
|
NM_017882.3(CLN6):c.75G>T (p.Leu25=)
|
rs2093262478
|
|
NM_017882.3(CLN6):c.765G>A (p.Leu255=)
|
|
|
NM_017882.3(CLN6):c.773A>G (p.Asn258Ser)
|
|
|
NM_017882.3(CLN6):c.774C>T (p.Asn258=)
|
rs1555438231
|
|
NM_017882.3(CLN6):c.777C>T (p.Gly259=)
|
|
|
NM_017882.3(CLN6):c.783C>G (p.Phe261Leu)
|
|
|
NM_017882.3(CLN6):c.783C>T (p.Phe261=)
|
|
|
NM_017882.3(CLN6):c.786C>T (p.Leu262=)
|
|
|
NM_017882.3(CLN6):c.789C>T (p.Phe263=)
|
|
|
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)
|
rs768422260
|
|
NM_017882.3(CLN6):c.795C>T (p.Ser265=)
|
|
|
NM_017882.3(CLN6):c.802C>T (p.Leu268=)
|
|
|
NM_017882.3(CLN6):c.804G>A (p.Leu268=)
|
rs2141135982
|
|
NM_017882.3(CLN6):c.804G>T (p.Leu268=)
|
rs2141135982
|
|
NM_017882.3(CLN6):c.813G>A (p.Leu271=)
|
|
|
NM_017882.3(CLN6):c.814C>G (p.Leu272Val)
|
|
|
NM_017882.3(CLN6):c.81C>T (p.Ala27=)
|
|
|
NM_017882.3(CLN6):c.822G>C (p.Ala274=)
|
|
|
NM_017882.3(CLN6):c.822G>T (p.Ala274=)
|
|
|
NM_017882.3(CLN6):c.825C>G (p.Leu275=)
|
|
|
NM_017882.3(CLN6):c.827G>A (p.Trp276Ter)
|
|
|
NM_017882.3(CLN6):c.828G>T (p.Trp276Cys)
|
rs2093193718
|
|
NM_017882.3(CLN6):c.82A>T (p.Arg28Trp)
|
rs2093262448
|
|
NM_017882.3(CLN6):c.83+11G>A
|
rs2093262385
|
|
NM_017882.3(CLN6):c.83+13C>G
|
|
|
NM_017882.3(CLN6):c.83+14G>A
|
|
|
NM_017882.3(CLN6):c.83+14dup
|
rs756808642
|
|
NM_017882.3(CLN6):c.83+15G>A
|
|
|
NM_017882.3(CLN6):c.83+6C>T
|
|
|
NM_017882.3(CLN6):c.83+7G>A
|
rs1595826955
|
|
NM_017882.3(CLN6):c.83+9G>A
|
rs2141156141
|
|
NM_017882.3(CLN6):c.83+9G>C
|
|
|
NM_017882.3(CLN6):c.831C>A (p.Val277=)
|
|
|
NM_017882.3(CLN6):c.834C>T (p.Ala278=)
|
|
|
NM_017882.3(CLN6):c.838C>A (p.Leu280Met)
|
|
|
NM_017882.3(CLN6):c.84-12G>C
|
|
|
NM_017882.3(CLN6):c.84-16T>A
|
|
|
NM_017882.3(CLN6):c.84-17G>A
|
|
|
NM_017882.3(CLN6):c.84-17G>T
|
|
|
NM_017882.3(CLN6):c.84-17_84-15del
|
|
|
NM_017882.3(CLN6):c.84-18C>A
|
|
|
NM_017882.3(CLN6):c.84-3del
|
rs2141145190
|
|
NM_017882.3(CLN6):c.84-4C>G
|
|
|
NM_017882.3(CLN6):c.84-4C>T
|
|
|
NM_017882.3(CLN6):c.840G>C (p.Leu280=)
|
|
|
NM_017882.3(CLN6):c.849C>A (p.Asp283Glu)
|
rs1239948245
|
|
NM_017882.3(CLN6):c.852T>A (p.Pro284=)
|
|
|
NM_017882.3(CLN6):c.852T>C (p.Pro284=)
|
rs2141135937
|
|
NM_017882.3(CLN6):c.858C>G (p.Leu286=)
|
|
|
NM_017882.3(CLN6):c.858C>T (p.Leu286=)
|
rs1043430340
|
|
NM_017882.3(CLN6):c.859A>T (p.Arg287Trp)
|
rs2141135931
|
|
NM_017882.3(CLN6):c.864G>T (p.Lys288Asn)
|
|
|
NM_017882.3(CLN6):c.872dup (p.Val293fs)
|
|
|
NM_017882.3(CLN6):c.873G>A (p.Pro291=)
|
rs567275786
|
|
NM_017882.3(CLN6):c.875G>C (p.Gly292Ala)
|
|
|
NM_017882.3(CLN6):c.876T>C (p.Gly292=)
|
rs916275768
|
|
NM_017882.3(CLN6):c.879C>T (p.Val293=)
|
|
|
NM_017882.3(CLN6):c.888C>T (p.Val296=)
|
|
|
NM_017882.3(CLN6):c.890del (p.Pro297fs)
|
rs154774639
|
|
NM_017882.3(CLN6):c.90C>G (p.Gly30=)
|
|
|
NM_017882.3(CLN6):c.912C>G (p.Thr304=)
|
|
|
NM_017882.3(CLN6):c.915del (p.His306fs)
|
|
|
NM_017882.3(CLN6):c.919G>A (p.Val307Ile)
|
rs146801142
|
|
NM_017882.3(CLN6):c.919G>T (p.Val307Phe)
|
rs146801142
|
|
NM_017882.3(CLN6):c.921_922delinsTC (p.Ser308Arg)
|
rs2141135839
|
|
NM_017882.3(CLN6):c.925A>C (p.Ser309Arg)
|
rs762916725
|
|
NM_017882.3(CLN6):c.925A>G (p.Ser309Gly)
|
rs762916725
|
|
NM_017882.3(CLN6):c.928C>T (p.Arg310Trp)
|
|
|
NM_017882.3(CLN6):c.92C>G (p.Ser31Cys)
|
rs2141145171
|
|
NM_017882.3(CLN6):c.95T>G (p.Val32Gly)
|
|
|
NM_017882.3(CLN6):c.9G>A (p.Ala3=)
|
|
|
NM_017882.3(CLN6):c.9G>C (p.Ala3=)
|
|
|
NM_018941.4(CLN8):c.102C>T (p.Phe34=)
|
rs2130990585
|
|
NM_018941.4(CLN8):c.105C>G (p.Tyr35Ter)
|
rs2130990601
|
|
NM_018941.4(CLN8):c.109_112dup (p.Val38fs)
|
|
|
NM_018941.4(CLN8):c.111C>A (p.Gly37=)
|
rs753430388
|
|
NM_018941.4(CLN8):c.112G>T (p.Val38Phe)
|
rs370199508
|
|
NM_018941.4(CLN8):c.114C>A (p.Val38=)
|
rs1585137545
|
|
NM_018941.4(CLN8):c.114C>G (p.Val38=)
|
rs1585137545
|
|
NM_018941.4(CLN8):c.123C>G (p.Val41=)
|
|
|
NM_018941.4(CLN8):c.123C>T (p.Val41=)
|
rs1801286645
|
|
NM_018941.4(CLN8):c.126C>A (p.Cys42Ter)
|
rs192196274
|
|
NM_018941.4(CLN8):c.127C>T (p.His43Tyr)
|
rs541840243
|
|
NM_018941.4(CLN8):c.12G>A (p.Ala4=)
|
rs368792081
|
|
NM_018941.4(CLN8):c.12G>C (p.Ala4=)
|
|
|
NM_018941.4(CLN8):c.12G>T (p.Ala4=)
|
rs368792081
|
|
NM_018941.4(CLN8):c.130C>T (p.Gln44Ter)
|
rs2130990747
|
|
NM_018941.4(CLN8):c.135G>A (p.Leu45=)
|
rs766132197
|
|
NM_018941.4(CLN8):c.135G>C (p.Leu45=)
|
|
|
NM_018941.4(CLN8):c.144C>A (p.Ser48=)
|
rs2130990822
|
|
NM_018941.4(CLN8):c.145C>T (p.Leu49=)
|
|
|
NM_018941.4(CLN8):c.153C>G (p.Ala51=)
|
|
|
NM_018941.4(CLN8):c.159C>A (p.Tyr53Ter)
|
|
|
NM_018941.4(CLN8):c.159C>T (p.Tyr53=)
|
rs780551031
|
|
NM_018941.4(CLN8):c.15C>G (p.Ser5Arg)
|
rs374597781
|
|
NM_018941.4(CLN8):c.160C>A (p.Arg54Ser)
|
|
|
NM_018941.4(CLN8):c.160del (p.Arg54fs)
|
|
|
NM_018941.4(CLN8):c.163T>G (p.Ser55Ala)
|
|
|
NM_018941.4(CLN8):c.16G>A (p.Asp6Asn)
|
rs200999640
|
|
NM_018941.4(CLN8):c.16G>C (p.Asp6His)
|
rs200999640
|
|
NM_018941.4(CLN8):c.174C>T (p.Ala58=)
|
|
|
NM_018941.4(CLN8):c.180G>A (p.Glu60=)
|
rs2130990994
|
|
NM_018941.4(CLN8):c.182A>C (p.Lys61Thr)
|
|
|
NM_018941.4(CLN8):c.187T>C (p.Phe63Leu)
|
|
|
NM_018941.4(CLN8):c.18T>A (p.Asp6Glu)
|
rs1464108080
|
|
NM_018941.4(CLN8):c.18T>G (p.Asp6Glu)
|
|
|
NM_018941.4(CLN8):c.194A>T (p.Asp65Val)
|
|
|
NM_018941.4(CLN8):c.19G>A (p.Gly7Arg)
|
rs764099428
|
|
NM_018941.4(CLN8):c.1A>T (p.Met1Leu)
|
|
|
NM_018941.4(CLN8):c.201G>A (p.Ala67=)
|
rs575820157
|
|
NM_018941.4(CLN8):c.204C>T (p.Ala68=)
|
|
|
NM_018941.4(CLN8):c.209G>C (p.Arg70Pro)
|
rs386834124
|
|
NM_018941.4(CLN8):c.20G>C (p.Gly7Ala)
|
|
|
NM_018941.4(CLN8):c.210T>C (p.Arg70=)
|
rs2130991152
|
|
NM_018941.4(CLN8):c.213A>C (p.Ala71=)
|
|
|
NM_018941.4(CLN8):c.213A>G (p.Ala71=)
|
rs763671368
|
|
NM_018941.4(CLN8):c.216C>G (p.Val72=)
|
|
|
NM_018941.4(CLN8):c.21G>A (p.Gly7=)
|
rs751762914
|
|
NM_018941.4(CLN8):c.226C>T (p.Gln76Ter)
|
rs1554449047
|
|
NM_018941.4(CLN8):c.227A>C (p.Gln76Pro)
|
|
|
NM_018941.4(CLN8):c.228G>A (p.Gln76=)
|
rs1585137825
|
|
NM_018941.4(CLN8):c.229A>G (p.Ser77Gly)
|
|
|
NM_018941.4(CLN8):c.231C>T (p.Ser77=)
|
rs1408818831
|
|
NM_018941.4(CLN8):c.234A>G (p.Thr78=)
|
rs1450867136
|
|
NM_018941.4(CLN8):c.236C>T (p.Ala79Val)
|
|
|
NM_018941.4(CLN8):c.237C>T (p.Ala79=)
|
rs1362205695
|
|
NM_018941.4(CLN8):c.238G>A (p.Ala80Thr)
|
rs998922998
|
|
NM_018941.4(CLN8):c.23G>T (p.Gly8Val)
|
rs781017885
|
|
NM_018941.4(CLN8):c.244C>T (p.Leu82=)
|
|
|
NM_018941.4(CLN8):c.246G>C (p.Leu82=)
|
rs144015378
|
|
NM_018941.4(CLN8):c.246G>T (p.Leu82=)
|
|
|
NM_018941.4(CLN8):c.258G>A (p.Leu86=)
|
|
|
NM_018941.4(CLN8):c.261G>A (p.Gly87=)
|
|
|
NM_018941.4(CLN8):c.263del (p.Asp88fs)
|
rs1057516582
|
|
NM_018941.4(CLN8):c.265C>A (p.Pro89Thr)
|
|
|
NM_018941.4(CLN8):c.265C>G (p.Pro89Ala)
|
rs1486320972
|
|
NM_018941.4(CLN8):c.268G>T (p.Val90Leu)
|
|
|
NM_018941.4(CLN8):c.26C>T (p.Thr9Ile)
|
rs1174240541
|
|
NM_018941.4(CLN8):c.273G>A (p.Leu91=)
|
rs878855052
|
|
NM_018941.4(CLN8):c.273G>T (p.Leu91=)
|
rs878855052
|
|
NM_018941.4(CLN8):c.274C>G (p.His92Asp)
|
rs34030778
|
|
NM_018941.4(CLN8):c.278C>G (p.Ala93Gly)
|
rs1468620144
|
|
NM_018941.4(CLN8):c.27A>G (p.Thr9=)
|
rs750274455
|
|
NM_018941.4(CLN8):c.280G>A (p.Asp94Asn)
|
rs143918546
|
|
NM_018941.4(CLN8):c.280G>C (p.Asp94His)
|
rs143918546
|
|
NM_018941.4(CLN8):c.290G>T (p.Arg97Leu)
|
rs116605307
|
|
NM_018941.4(CLN8):c.291T>C (p.Arg97=)
|
|
|
NM_018941.4(CLN8):c.297G>A (p.Gln99=)
|
rs1057521001
|
|
NM_018941.4(CLN8):c.299A>G (p.Gln100Arg)
|
|
|
NM_018941.4(CLN8):c.29C>T (p.Ser10Leu)
|
rs1454175058
|
|
NM_018941.4(CLN8):c.303C>G (p.Asn101Lys)
|
rs755831055
|
|
NM_018941.4(CLN8):c.303C>T (p.Asn101=)
|
rs755831055
|
|
NM_018941.4(CLN8):c.306G>C (p.Trp102Cys)
|
rs1554449124
|
|
NM_018941.4(CLN8):c.311G>A (p.Trp104Ter)
|
rs1801297484
|
|
NM_018941.4(CLN8):c.312G>A (p.Trp104Ter)
|
rs1554449136
|
|
NM_018941.4(CLN8):c.312G>T (p.Trp104Cys)
|
rs1554449136
|
|
NM_018941.4(CLN8):c.315del (p.His106fs)
|
|
|
NM_018941.4(CLN8):c.321C>T (p.Ile107=)
|
rs2130991748
|
|
NM_018941.4(CLN8):c.322A>G (p.Thr108Ala)
|
|
|
NM_018941.4(CLN8):c.324G>T (p.Thr108=)
|
|
|
NM_018941.4(CLN8):c.327A>G (p.Thr109=)
|
|
|
NM_018941.4(CLN8):c.330A>G (p.Ala110=)
|
rs2130991797
|
|
NM_018941.4(CLN8):c.331A>G (p.Thr111Ala)
|
rs1563107925
|
|
NM_018941.4(CLN8):c.336A>T (p.Gly112=)
|
rs1585138188
|
|
NM_018941.4(CLN8):c.33G>A (p.Glu11=)
|
rs2130990075
|
|
NM_018941.4(CLN8):c.344G>C (p.Cys115Ser)
|
|
|
NM_018941.4(CLN8):c.345C>T (p.Cys115=)
|
|
|
NM_018941.4(CLN8):c.353A>C (p.Asn118Thr)
|
|
|
NM_018941.4(CLN8):c.358G>T (p.Ala120Ser)
|
rs1353274959
|
|
NM_018941.4(CLN8):c.359C>T (p.Ala120Val)
|
|
|
NM_018941.4(CLN8):c.35G>C (p.Ser12Thr)
|
rs1775036577
|
|
NM_018941.4(CLN8):c.360A>G (p.Ala120=)
|
rs2130991953
|
|
NM_018941.4(CLN8):c.361G>A (p.Val121Ile)
|
rs1223417396
|
|
NM_018941.4(CLN8):c.363C>A (p.Val121=)
|
rs568852954
|
|
NM_018941.4(CLN8):c.366C>T (p.His122=)
|
|
|
NM_018941.4(CLN8):c.367C>T (p.Leu123=)
|
rs2130992011
|
|
NM_018941.4(CLN8):c.369G>A (p.Leu123=)
|
|
|
NM_018941.4(CLN8):c.371C>A (p.Ser124Tyr)
|
rs1198837795
|
|
NM_018941.4(CLN8):c.372C>T (p.Ser124=)
|
rs2130992027
|
|
NM_018941.4(CLN8):c.374A>T (p.Asn125Ile)
|
rs142269885
|
|
NM_018941.4(CLN8):c.375C>T (p.Asn125=)
|
|
|
NM_018941.4(CLN8):c.376T>C (p.Leu126=)
|
|
|
NM_018941.4(CLN8):c.377T>A (p.Leu126Ter)
|
|
|
NM_018941.4(CLN8):c.37A>G (p.Ile13Val)
|
rs1563107126
|
|
NM_018941.4(CLN8):c.380T>G (p.Ile127Ser)
|
|
|
NM_018941.4(CLN8):c.382T>C (p.Phe128Leu)
|
rs1801301214
|
|
NM_018941.4(CLN8):c.384C>T (p.Phe128=)
|
|
|
NM_018941.4(CLN8):c.385C>G (p.Arg129Gly)
|
|
|
NM_018941.4(CLN8):c.387G>C (p.Arg129=)
|
rs2130992139
|
|
NM_018941.4(CLN8):c.389C>T (p.Thr130Ile)
|
rs1165037847
|
|
NM_018941.4(CLN8):c.390A>C (p.Thr130=)
|
rs181971599
|
|
NM_018941.4(CLN8):c.390A>G (p.Thr130=)
|
rs181971599
|
|
NM_018941.4(CLN8):c.392T>G (p.Phe131Cys)
|
rs1404214432
|
|
NM_018941.4(CLN8):c.398T>A (p.Leu133Ter)
|
rs554042394
|
|
NM_018941.4(CLN8):c.399G>A (p.Leu133=)
|
rs948684101
|
|
NM_018941.4(CLN8):c.399G>T (p.Leu133Phe)
|
rs948684101
|
|
NM_018941.4(CLN8):c.39T>A (p.Ile13=)
|
|
|
NM_018941.4(CLN8):c.39T>G (p.Ile13Met)
|
rs1801279215
|
|
NM_018941.4(CLN8):c.405G>A (p.Leu135=)
|
|
|
NM_018941.4(CLN8):c.408T>C (p.Val136=)
|
rs535963507
|
|
NM_018941.4(CLN8):c.411C>T (p.Ile137=)
|
rs147224140
|
|
NM_018941.4(CLN8):c.415C>T (p.His139Tyr)
|
rs386834127
|
|
NM_018941.4(CLN8):c.420C>G (p.Leu140=)
|
rs2130992308
|
|
NM_018941.4(CLN8):c.426C>T (p.Ala142=)
|
rs1354416712
|
|
NM_018941.4(CLN8):c.427T>G (p.Phe143Val)
|
rs2130992340
|
|
NM_018941.4(CLN8):c.429T>C (p.Phe143=)
|
|
|
NM_018941.4(CLN8):c.429_432del (p.Phe143fs)
|
rs759598033
|
|
NM_018941.4(CLN8):c.446G>A (p.Cys149Tyr)
|
|
|
NM_018941.4(CLN8):c.452T>C (p.Val151Ala)
|
rs752026391
|
|
NM_018941.4(CLN8):c.453C>G (p.Val151=)
|
rs1801304769
|
|
NM_018941.4(CLN8):c.453C>T (p.Val151=)
|
|
|
NM_018941.4(CLN8):c.457C>G (p.Leu153Val)
|
|
|
NM_018941.4(CLN8):c.459C>A (p.Leu153=)
|
rs1031756072
|
|
NM_018941.4(CLN8):c.459C>G (p.Leu153=)
|
rs1031756072
|
|
NM_018941.4(CLN8):c.459C>T (p.Leu153=)
|
|
|
NM_018941.4(CLN8):c.462A>G (p.Gln154=)
|
rs1366343262
|
|
NM_018941.4(CLN8):c.468C>G (p.Gly156=)
|
rs2130992519
|
|
NM_018941.4(CLN8):c.46C>A (p.Leu16Met)
|
rs386834129
|
|
NM_018941.4(CLN8):c.471C>G (p.His157Gln)
|
rs1585138507
|
|
NM_018941.4(CLN8):c.474T>C (p.Tyr158=)
|
rs2130992557
|
|
NM_018941.4(CLN8):c.474_477dup (p.Ala160fs)
|
|
|
NM_018941.4(CLN8):c.475C>T (p.Leu159=)
|
rs2130992571
|
|
NM_018941.4(CLN8):c.477A>G (p.Leu159=)
|
|
|
NM_018941.4(CLN8):c.485C>G (p.Thr162Ser)
|
rs1554449289
|
|
NM_018941.4(CLN8):c.486C>T (p.Thr162=)
|
rs768531216
|
|
NM_018941.4(CLN8):c.489G>A (p.Thr163=)
|
rs1585138564
|
|
NM_018941.4(CLN8):c.489G>T (p.Thr163=)
|
rs1585138564
|
|
NM_018941.4(CLN8):c.48G>C (p.Leu16=)
|
rs2130990190
|
|
NM_018941.4(CLN8):c.490T>C (p.Leu164=)
|
rs2130992657
|
|
NM_018941.4(CLN8):c.495C>T (p.Leu165=)
|
rs772106347
|
|
NM_018941.4(CLN8):c.496C>T (p.Leu166=)
|
|
|
NM_018941.4(CLN8):c.499G>A (p.Glu167Lys)
|
rs144495588
|
|
NM_018941.4(CLN8):c.509C>G (p.Thr170Arg)
|
|
|
NM_018941.4(CLN8):c.50A>T (p.Asp17Val)
|
rs148668081
|
|
NM_018941.4(CLN8):c.510G>C (p.Thr170=)
|
|
|
NM_018941.4(CLN8):c.510G>T (p.Thr170=)
|
rs759153401
|
|
NM_018941.4(CLN8):c.512C>G (p.Pro171Arg)
|
rs1184115888
|
|
NM_018941.4(CLN8):c.513C>A (p.Pro171=)
|
|
|
NM_018941.4(CLN8):c.518C>T (p.Thr173Ile)
|
|
|
NM_018941.4(CLN8):c.523G>C (p.Val175Leu)
|
rs768139689
|
|
NM_018941.4(CLN8):c.530G>A (p.Trp177Ter)
|
|
|
NM_018941.4(CLN8):c.537C>T (p.Leu179=)
|
rs2130992882
|
|
NM_018941.4(CLN8):c.539T>A (p.Leu180Ter)
|
rs1801309834
|
|
NM_018941.4(CLN8):c.53A>G (p.Tyr18Cys)
|
rs142104002
|
|
NM_018941.4(CLN8):c.543+12C>G
|
|
|
NM_018941.4(CLN8):c.543+12_543+20dup
|
|
|
NM_018941.4(CLN8):c.543+13A>C
|
|
|
NM_018941.4(CLN8):c.543+14T>G
|
|
|
NM_018941.4(CLN8):c.543+19A>C
|
|
|
NM_018941.4(CLN8):c.543+1G>A
|
rs756267448
|
|
NM_018941.4(CLN8):c.543+5G>C
|
|
|
NM_018941.4(CLN8):c.543+7G>A
|
rs779967066
|
|
NM_018941.4(CLN8):c.543+9A>C
|
rs982453047
|
|
NM_018941.4(CLN8):c.544-15C>T
|
|
|
NM_018941.4(CLN8):c.544-19T>G
|
|
|
NM_018941.4(CLN8):c.544-2A>C
|
|
|
NM_018941.4(CLN8):c.544-5T>C
|
|
|
NM_018941.4(CLN8):c.544-6A>C
|
rs200435861
|
|
NM_018941.4(CLN8):c.544-6A>T
|
|
|
NM_018941.4(CLN8):c.544-8C>A
|
|
|
NM_018941.4(CLN8):c.544G>A (p.Ala182Thr)
|
|
|
NM_018941.4(CLN8):c.546G>T (p.Ala182=)
|
rs144047076
|
|
NM_018941.4(CLN8):c.548del (p.Gly183fs)
|
|
|
NM_018941.4(CLN8):c.550T>G (p.Trp184Gly)
|
rs1801670539
|
|
NM_018941.4(CLN8):c.555C>G (p.Ser185=)
|
|
|
NM_018941.4(CLN8):c.555del (p.Glu186fs)
|
|
|
NM_018941.4(CLN8):c.560C>G (p.Ser187Cys)
|
rs775174607
|
|
NM_018941.4(CLN8):c.561T>A (p.Ser187=)
|
|
|
NM_018941.4(CLN8):c.561T>C (p.Ser187=)
|
|
|
NM_018941.4(CLN8):c.562_563del (p.Leu188fs)
|
rs386834132
|
|
NM_018941.4(CLN8):c.56C>T (p.Ala19Val)
|
rs942360618
|
|
NM_018941.4(CLN8):c.571A>C (p.Lys191Gln)
|
rs1801671671
|
|
NM_018941.4(CLN8):c.573G>A (p.Lys191=)
|
rs1801671744
|
|
NM_018941.4(CLN8):c.573G>C (p.Lys191Asn)
|
|
|
NM_018941.4(CLN8):c.576C>G (p.Leu192=)
|
|
|
NM_018941.4(CLN8):c.576C>T (p.Leu192=)
|
|
|
NM_018941.4(CLN8):c.578A>G (p.Asn193Ser)
|
|
|
NM_018941.4(CLN8):c.579C>A (p.Asn193Lys)
|
|
|
NM_018941.4(CLN8):c.57A>G (p.Ala19=)
|
rs1256814205
|
|
NM_018941.4(CLN8):c.582G>C (p.Gln194His)
|
rs139824802
|
|
NM_018941.4(CLN8):c.583T>A (p.Trp195Arg)
|
rs766924857
|
|
NM_018941.4(CLN8):c.586C>G (p.Leu196Val)
|
rs1459482330
|
|
NM_018941.4(CLN8):c.588G>A (p.Leu196=)
|
rs2129015199
|
|
NM_018941.4(CLN8):c.588G>C (p.Leu196=)
|
rs2129015199
|
|
NM_018941.4(CLN8):c.593_596dup (p.Met200fs)
|
rs1801672516
|
|
NM_018941.4(CLN8):c.598A>T (p.Met200Leu)
|
rs749595247
|
|
NM_018941.4(CLN8):c.59C>T (p.Ser20Phe)
|
rs749651452
|
|
NM_018941.4(CLN8):c.5A>G (p.Asn2Ser)
|
|
|
NM_018941.4(CLN8):c.606C>G (p.His202Gln)
|
|
|
NM_018941.4(CLN8):c.610C>G (p.Arg204Gly)
|
|
|
NM_018941.4(CLN8):c.611G>T (p.Arg204Leu)
|
rs386834134
|
|
NM_018941.4(CLN8):c.612C>T (p.Arg204=)
|
|
|
NM_018941.4(CLN8):c.613A>G (p.Met205Val)
|
|
|
NM_018941.4(CLN8):c.616G>T (p.Val206Phe)
|
rs751249766
|
|
NM_018941.4(CLN8):c.618T>G (p.Val206=)
|
|
|
NM_018941.4(CLN8):c.624C>A (p.Thr208=)
|
rs1257327513
|
|
NM_018941.4(CLN8):c.627C>G (p.Tyr209Ter)
|
|
|
NM_018941.4(CLN8):c.630C>G (p.His210Gln)
|
|
|
NM_018941.4(CLN8):c.630C>T (p.His210=)
|
rs1554451522
|
|
NM_018941.4(CLN8):c.631A>T (p.Met211Leu)
|
|
|
NM_018941.4(CLN8):c.632T>C (p.Met211Thr)
|
|
|
NM_018941.4(CLN8):c.635G>A (p.Trp212Ter)
|
rs2129015230
|
|
NM_018941.4(CLN8):c.636G>C (p.Trp212Cys)
|
|
|
NM_018941.4(CLN8):c.639G>C (p.Trp213Cys)
|
|
|
NM_018941.4(CLN8):c.639G>T (p.Trp213Cys)
|
rs113304303
|
|
NM_018941.4(CLN8):c.648C>T (p.Phe216=)
|
rs564074916
|
|
NM_018941.4(CLN8):c.650G>C (p.Trp217Ser)
|
|
|
NM_018941.4(CLN8):c.663C>A (p.Gly221=)
|
|
|
NM_018941.4(CLN8):c.667G>C (p.Val223Leu)
|
rs1801676517
|
|
NM_018941.4(CLN8):c.669C>G (p.Val223=)
|
rs2129015252
|
|
NM_018941.4(CLN8):c.675C>T (p.Ser225=)
|
|
|
NM_018941.4(CLN8):c.678G>A (p.Leu226=)
|
|
|
NM_018941.4(CLN8):c.678G>C (p.Leu226=)
|
rs1462963398
|
|
NM_018941.4(CLN8):c.678_687del (p.Tyr227fs)
|
|
|
NM_018941.4(CLN8):c.682C>G (p.Leu228Val)
|
rs1585151658
|
|
NM_018941.4(CLN8):c.682C>T (p.Leu228=)
|
rs1585151658
|
|
NM_018941.4(CLN8):c.684G>C (p.Leu228=)
|
|
|
NM_018941.4(CLN8):c.686C>T (p.Pro229Leu)
|
|
|
NM_018941.4(CLN8):c.68_76del (p.Ile23_Ser25del)
|
|
|
NM_018941.4(CLN8):c.690T>G (p.His230Gln)
|
|
|
NM_018941.4(CLN8):c.693G>A (p.Leu231=)
|
rs1470702469
|
|
NM_018941.4(CLN8):c.694A>C (p.Thr232Pro)
|
|
|
NM_018941.4(CLN8):c.696A>G (p.Thr232=)
|
rs1337045486
|
|
NM_018941.4(CLN8):c.697C>T (p.Leu233=)
|
|
|
NM_018941.4(CLN8):c.699G>C (p.Leu233=)
|
|
|
NM_018941.4(CLN8):c.702C>T (p.Phe234=)
|
rs1264323379
|
|
NM_018941.4(CLN8):c.703C>T (p.Leu235Phe)
|
|
|
NM_018941.4(CLN8):c.703del (p.Val236fs)
|
rs761621368
|
|
NM_018941.4(CLN8):c.705T>G (p.Leu235=)
|
|
|
NM_018941.4(CLN8):c.706G>A (p.Val236Ile)
|
rs371830719
|
|
NM_018941.4(CLN8):c.706G>C (p.Val236Leu)
|
|
|
NM_018941.4(CLN8):c.709G>C (p.Gly237Arg)
|
|
|
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly)
|
rs104894064
|
|
NM_018941.4(CLN8):c.70C>T (p.Arg24Cys)
|
rs104894064
|
|
NM_018941.4(CLN8):c.714G>A (p.Leu238=)
|
|
|
NM_018941.4(CLN8):c.71G>A (p.Arg24His)
|
|
|
NM_018941.4(CLN8):c.71G>T (p.Arg24Leu)
|
|
|
NM_018941.4(CLN8):c.721C>G (p.Leu241Val)
|
rs1554451594
|
|
NM_018941.4(CLN8):c.726G>C (p.Thr242=)
|
rs200529220
|
|
NM_018941.4(CLN8):c.72C>T (p.Arg24=)
|
rs767698401
|
|
NM_018941.4(CLN8):c.731T>C (p.Ile244Thr)
|
|
|
NM_018941.4(CLN8):c.732C>G (p.Ile244Met)
|
rs747778614
|
|
NM_018941.4(CLN8):c.738T>C (p.Asn246=)
|
rs2129015283
|
|
NM_018941.4(CLN8):c.743A>G (p.Tyr248Cys)
|
|
|
NM_018941.4(CLN8):c.744T>C (p.Tyr248=)
|
rs2129015286
|
|
NM_018941.4(CLN8):c.745T>C (p.Trp249Arg)
|
|
|
NM_018941.4(CLN8):c.750C>T (p.Thr250=)
|
|
|
NM_018941.4(CLN8):c.759G>A (p.Lys253=)
|
rs1463644943
|
|
NM_018941.4(CLN8):c.763C>G (p.Gln255Glu)
|
rs746397087
|
|
NM_018941.4(CLN8):c.763C>T (p.Gln255Ter)
|
rs746397087
|
|
NM_018941.4(CLN8):c.766C>T (p.Gln256Ter)
|
|
|
NM_018941.4(CLN8):c.76A>T (p.Thr26Ser)
|
|
|
NM_018941.4(CLN8):c.774C>T (p.Leu258=)
|
rs1801681630
|
|
NM_018941.4(CLN8):c.775A>G (p.Asn259Asp)
|
rs1044299834
|
|
NM_018941.4(CLN8):c.776A>T (p.Asn259Ile)
|
rs201956727
|
|
NM_018941.4(CLN8):c.77C>G (p.Thr26Arg)
|
rs755846977
|
|
NM_018941.4(CLN8):c.77C>T (p.Thr26Met)
|
rs755846977
|
|
NM_018941.4(CLN8):c.780G>C (p.Pro260=)
|
rs761984333
|
|
NM_018941.4(CLN8):c.781G>A (p.Val261Met)
|
rs1482950665
|
|
NM_018941.4(CLN8):c.782T>C (p.Val261Ala)
|
|
|
NM_018941.4(CLN8):c.788G>A (p.Trp263Ter)
|
rs878855053
|
|
NM_018941.4(CLN8):c.789G>C (p.Trp263Cys)
|
rs28940569
|
|
NM_018941.4(CLN8):c.792C>T (p.Asn264=)
|
rs587779411
|
|
NM_018941.4(CLN8):c.796G>T (p.Ala266Ser)
|
|
|
NM_018941.4(CLN8):c.797C>T (p.Ala266Val)
|
|
|
NM_018941.4(CLN8):c.798A>C (p.Ala266=)
|
rs754493769
|
|
NM_018941.4(CLN8):c.798A>G (p.Ala266=)
|
|
|
NM_018941.4(CLN8):c.7C>T (p.Pro3Ser)
|
rs767218890
|
|
NM_018941.4(CLN8):c.801G>C (p.Gln267His)
|
|
|
NM_018941.4(CLN8):c.801dup (p.Pro268fs)
|
|
|
NM_018941.4(CLN8):c.804A>G (p.Pro268=)
|
rs746305311
|
|
NM_018941.4(CLN8):c.806A>G (p.Glu269Gly)
|
rs139003032
|
|
NM_018941.4(CLN8):c.809C>T (p.Ala270Val)
|
rs2129015316
|
|
NM_018941.4(CLN8):c.810C>G (p.Ala270=)
|
|
|
NM_018941.4(CLN8):c.813G>A (p.Lys271=)
|
rs947633775
|
|
NM_018941.4(CLN8):c.820C>T (p.Pro274Ser)
|
|
|
NM_018941.4(CLN8):c.827del (p.Gly276fs)
|
rs1365308812
|
|
NM_018941.4(CLN8):c.830A>G (p.Asn277Ser)
|
|
|
NM_018941.4(CLN8):c.834G>A (p.Gly278=)
|
|
|
NM_018941.4(CLN8):c.835C>T (p.Gln279Ter)
|
|
|
NM_018941.4(CLN8):c.838C>T (p.Leu280=)
|
rs886043061
|
|
NM_018941.4(CLN8):c.841C>T (p.Leu281=)
|
|
|
NM_018941.4(CLN8):c.844C>A (p.Arg282=)
|
rs587780898
|
|
NM_018941.4(CLN8):c.845G>C (p.Arg282Pro)
|
rs766172825
|
|
NM_018941.4(CLN8):c.851A>C (p.Lys284Thr)
|
rs2129015342
|
|
NM_018941.4(CLN8):c.855G>A (p.Arg285=)
|
|
|
NM_018941.4(CLN8):c.859dup (p.Ter287LeuextTer?)
|
rs2129015346
|
|
NM_018941.4(CLN8):c.85G>T (p.Val29Phe)
|
|
|
NM_018941.4(CLN8):c.861G>A (p.Ter287=)
|
|
|
NM_018941.4(CLN8):c.90T>G (p.Ala30=)
|
|
|
NM_018941.4(CLN8):c.93C>T (p.Gly31=)
|
|
|
NM_018941.4(CLN8):c.94T>G (p.Phe32Val)
|
rs758068226
|
|
NM_018941.4(CLN8):c.97G>C (p.Val33Leu)
|
rs1801284979
|
|
NM_025219.3(DNAJC5):c.107G>A (p.Arg36Gln)
|
|
|
NM_025219.3(DNAJC5):c.111G>A (p.Lys37=)
|
rs2053641677
|
|
NM_025219.3(DNAJC5):c.141C>A (p.Asn47Lys)
|
rs1600885575
|
|
NM_025219.3(DNAJC5):c.147C>A (p.Asp49Glu)
|
|
|
NM_025219.3(DNAJC5):c.147C>T (p.Asp49=)
|
|
|
NM_025219.3(DNAJC5):c.14G>A (p.Arg5Lys)
|
rs1006274437
|
|
NM_025219.3(DNAJC5):c.150C>T (p.Asn50=)
|
rs963094374
|
|
NM_025219.3(DNAJC5):c.153G>A (p.Pro51=)
|
rs151265913
|
|
NM_025219.3(DNAJC5):c.153G>T (p.Pro51=)
|
rs151265913
|
|
NM_025219.3(DNAJC5):c.168G>A (p.Lys56=)
|
|
|
NM_025219.3(DNAJC5):c.174G>A (p.Lys58=)
|
rs2146305404
|
|
NM_025219.3(DNAJC5):c.186C>T (p.Asn62=)
|
|
|
NM_025219.3(DNAJC5):c.193G>A (p.Ala65Thr)
|
rs772453351
|
|
NM_025219.3(DNAJC5):c.193G>T (p.Ala65Ser)
|
rs772453351
|
|
NM_025219.3(DNAJC5):c.20G>A (p.Arg7His)
|
rs2053633035
|
|
NM_025219.3(DNAJC5):c.211A>C (p.Thr71Pro)
|
rs2146305478
|
|
NM_025219.3(DNAJC5):c.226T>C (p.Tyr76His)
|
rs2053642970
|
|
NM_025219.3(DNAJC5):c.229G>T (p.Asp77Tyr)
|
rs762638579
|
|
NM_025219.3(DNAJC5):c.232A>G (p.Lys78Glu)
|
rs2053643194
|
|
NM_025219.3(DNAJC5):c.238G>A (p.Gly80Ser)
|
rs1555879996
|
|
NM_025219.3(DNAJC5):c.242C>T (p.Ser81Leu)
|
rs933246467
|
|
NM_025219.3(DNAJC5):c.243G>T (p.Ser81=)
|
rs532410241
|
|
NM_025219.3(DNAJC5):c.244C>T (p.Leu82=)
|
rs1168791937
|
|
NM_025219.3(DNAJC5):c.261C>G (p.Ala87=)
|
|
|
NM_025219.3(DNAJC5):c.285G>T (p.Val95=)
|
|
|
NM_025219.3(DNAJC5):c.301C>G (p.Leu101Val)
|
rs2053643951
|
|
NM_025219.3(DNAJC5):c.303G>A (p.Leu101=)
|
|
|
NM_025219.3(DNAJC5):c.319A>C (p.Lys107Gln)
|
rs2053644044
|
|
NM_025219.3(DNAJC5):c.321+38_321+63del
|
rs2053644346
|
|
NM_025219.3(DNAJC5):c.321+38_321+63dup
|
|
|
NM_025219.3(DNAJC5):c.321+90_321+141del
|
rs2146305682
|
|
NM_025219.3(DNAJC5):c.322-13C>T
|
|
|
NM_025219.3(DNAJC5):c.322-15_322-14delinsAC
|
rs2146308175
|
|
NM_025219.3(DNAJC5):c.322-17C>T
|
|
|
NM_025219.3(DNAJC5):c.322-18_322-16del
|
rs1410187166
|
|
NM_025219.3(DNAJC5):c.322-3C>A
|
rs777923854
|
|
NM_025219.3(DNAJC5):c.322-3dup
|
rs1173184036
|
|
NM_025219.3(DNAJC5):c.322-4C>A
|
|
|
NM_025219.3(DNAJC5):c.322-4C>G
|
rs376221120
|
|
NM_025219.3(DNAJC5):c.322-5C>G
|
rs373568941
|
|
NM_025219.3(DNAJC5):c.322-9T>A
|
rs2146308196
|
|
NM_025219.3(DNAJC5):c.322G>T (p.Ala108Ser)
|
rs1322303376
|
|
NM_025219.3(DNAJC5):c.327G>C (p.Leu109=)
|
rs1555880229
|
|
NM_025219.3(DNAJC5):c.333C>G (p.Val111=)
|
rs1037164977
|
|
NM_025219.3(DNAJC5):c.334T>C (p.Phe112Leu)
|
|
|
NM_025219.3(DNAJC5):c.336C>T (p.Phe112=)
|
|
|
NM_025219.3(DNAJC5):c.342C>T (p.Gly114=)
|
rs746279787
|
|
NM_025219.3(DNAJC5):c.343CTC[1] (p.Leu116del)
|
rs587776892
|
|
NM_025219.3(DNAJC5):c.346C>T (p.Leu116Phe)
|
rs2053663677
|
|
NM_025219.3(DNAJC5):c.351G>T (p.Thr117=)
|
rs775067598
|
|
NM_025219.3(DNAJC5):c.360C>T (p.Tyr120=)
|
|
|
NM_025219.3(DNAJC5):c.375G>C (p.Leu125=)
|
|
|
NM_025219.3(DNAJC5):c.39G>A (p.Gly13=)
|
rs753100030
|
|
NM_025219.3(DNAJC5):c.400G>A (p.Gly134Arg)
|
|
|
NM_025219.3(DNAJC5):c.417G>A (p.Lys139=)
|
|
|
NM_025219.3(DNAJC5):c.420G>A (p.Ala140=)
|
rs568985915
|
|
NM_025219.3(DNAJC5):c.428G>C (p.Gly143Ala)
|
|
|
NM_025219.3(DNAJC5):c.42G>C (p.Glu14Asp)
|
rs2053633217
|
|
NM_025219.3(DNAJC5):c.436_437delinsTT (p.Thr146Leu)
|
|
|
NM_025219.3(DNAJC5):c.438G>A (p.Thr146=)
|
rs746222594
|
|
NM_025219.3(DNAJC5):c.441G>A (p.Glu147=)
|
|
|
NM_025219.3(DNAJC5):c.448G>A (p.Val150Met)
|
rs146719477
|
|
NM_025219.3(DNAJC5):c.453C>T (p.Ser151=)
|
rs1482200561
|
|
NM_025219.3(DNAJC5):c.479A>G (p.Gln160Arg)
|
|
|
NM_025219.3(DNAJC5):c.483T>A (p.Ser161=)
|
rs2146308564
|
|
NM_025219.3(DNAJC5):c.487G>C (p.Glu163Gln)
|
rs773217530
|
|
NM_025219.3(DNAJC5):c.488A>G (p.Glu163Gly)
|
rs2053665398
|
|
NM_025219.3(DNAJC5):c.491G>A (p.Arg164Lys)
|
rs762961919
|
|
NM_025219.3(DNAJC5):c.493+11G>C
|
rs760774827
|
|
NM_025219.3(DNAJC5):c.493+17G>C
|
|
|
NM_025219.3(DNAJC5):c.493+19G>A
|
rs2053665643
|
|
NM_025219.3(DNAJC5):c.493+20C>A
|
|
|
NM_025219.3(DNAJC5):c.493+22del
|
|
|
NM_025219.3(DNAJC5):c.493+8C>T
|
|
|
NM_025219.3(DNAJC5):c.494-15G>A
|
|
|
NM_025219.3(DNAJC5):c.494-16T>A
|
|
|
NM_025219.3(DNAJC5):c.494-19C>T
|
|
|
NM_025219.3(DNAJC5):c.500C>T (p.Thr167Ile)
|
|
|
NM_025219.3(DNAJC5):c.504C>T (p.Asp168=)
|
rs886056935
|
|
NM_025219.3(DNAJC5):c.506C>T (p.Thr169Met)
|
rs777119527
|
|
NM_025219.3(DNAJC5):c.510G>T (p.Pro170=)
|
|
|
NM_025219.3(DNAJC5):c.516C>T (p.Val172=)
|
rs2146309323
|
|
NM_025219.3(DNAJC5):c.518T>C (p.Ile173Thr)
|
|
|
NM_025219.3(DNAJC5):c.520C>T (p.Gln174Ter)
|
rs2146309343
|
|
NM_025219.3(DNAJC5):c.522G>C (p.Gln174His)
|
|
|
NM_025219.3(DNAJC5):c.527C>T (p.Ala176Val)
|
rs199540600
|
|
NM_025219.3(DNAJC5):c.52C>T (p.His18Tyr)
|
|
|
NM_025219.3(DNAJC5):c.532G>A (p.Ala178Thr)
|
rs766374425
|
|
NM_025219.3(DNAJC5):c.537C>T (p.Thr179=)
|
|
|
NM_025219.3(DNAJC5):c.538G>A (p.Glu180Lys)
|
|
|
NM_025219.3(DNAJC5):c.554C>T (p.Thr185Ile)
|
|
|
NM_025219.3(DNAJC5):c.558C>T (p.Ala186=)
|
|
|
NM_025219.3(DNAJC5):c.563C>T (p.Ser188Phe)
|
|
|
NM_025219.3(DNAJC5):c.570C>T (p.Pro190=)
|
rs1349994773
|
|
NM_025219.3(DNAJC5):c.578A>G (p.His193Arg)
|
|
|
NM_025219.3(DNAJC5):c.57C>T (p.Val19=)
|
|
|
NM_025219.3(DNAJC5):c.586G>A (p.Gly196Arg)
|
rs748741035
|
|
NM_025219.3(DNAJC5):c.587G>A (p.Gly196Glu)
|
|
|
NM_025219.3(DNAJC5):c.66G>A (p.Leu22=)
|
rs1057523849
|
|
NM_025219.3(DNAJC5):c.70A>C (p.Lys24Gln)
|
|
|
NM_025219.3(DNAJC5):c.70A>G (p.Lys24Glu)
|
rs1187650085
|
|
NM_025219.3(DNAJC5):c.74A>G (p.Asn25Ser)
|
rs1348706291
|
|
NM_025219.3(DNAJC5):c.86A>G (p.Asp29Gly)
|
rs1374320528
|
|
NM_025219.3(DNAJC5):c.87T>G (p.Asp29Glu)
|
rs1555879894
|
|
NM_025219.3(DNAJC5):c.8A>G (p.Asp3Gly)
|
rs755410138
|
|
NM_025219.3(DNAJC5):c.96A>G (p.Lys32=)
|
rs2146303986
|
|
NM_025219.3(DNAJC5):c.99G>A (p.Lys33=)
|
rs2146303993
|
|
NM_025219.3(DNAJC5):c.9C>T (p.Asp3=)
|
|
|