ClinVar Miner

List of variants studied for Neuronal ceroid lipofuscinosis by Invitae

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ClinVar version:
Total variants: 3340
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HGVS dbSNP gnomAD frequency
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=)

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