ClinVar Miner

List of variants reported as uncertain significance for Neuronal ceroid lipofuscinosis

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ClinVar version:
Total variants: 1251
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HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.*42T>G rs754655363 0.14249
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_000310.4(PPT1):c.*3C>A rs150454815 0.00889
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698 0.00169
NM_017882.3(CLN6):c.339G>A (p.Thr113=) rs146135801 0.00141
NM_006493.4(CLN5):c.-146T>C rs201615354 0.00104
NM_017882.3(CLN6):c.*1103G>A rs147362516 0.00101
NM_001042432.2(CLN3):c.238A>T (p.Thr80Ser) rs150348015 0.00074
NM_018941.4(CLN8):c.513C>G (p.Pro171=) rs376910635 0.00073
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu) rs757712173 0.00067
NM_017882.3(CLN6):c.*312C>T rs747144655 0.00060
NM_006493.4(CLN5):c.459G>A (p.Met153Ile) rs144656959 0.00058
NM_017882.3(CLN6):c.487-15C>T rs200775021 0.00049
NM_017882.3(CLN6):c.*131G>T rs556392570 0.00041
NM_017882.3(CLN6):c.822G>A (p.Ala274=) rs151186473 0.00041
NM_017882.3(CLN6):c.*882C>T rs766413849 0.00039
NM_017882.3(CLN6):c.-38C>T rs756496671 0.00036
NM_006493.4(CLN5):c.265G>A (p.Asp89Asn) rs138110438 0.00034
NM_001042432.2(CLN3):c.776C>T (p.Pro259Leu) rs137858807 0.00031
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617 0.00029
NM_006493.4(CLN5):c.1045C>T (p.Pro349Ser) rs41287036 0.00026
NM_017882.3(CLN6):c.*284C>T rs536039114 0.00026
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_017882.3(CLN6):c.100G>A (p.Ala34Thr) rs146198681 0.00022
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_018941.4(CLN8):c.619C>G (p.Leu207Val) rs151334741 0.00020
NM_018941.4(CLN8):c.50A>G (p.Asp17Gly) rs148668081 0.00019
NM_001042432.2(CLN3):c.392G>A (p.Ser131Asn) rs144770450 0.00017
NM_006493.4(CLN5):c.565+3_565+4dup rs745312608 0.00016
NM_001042432.2(CLN3):c.1027C>T (p.Arg343Cys) rs201407601 0.00015
NM_006493.4(CLN5):c.19A>G (p.Thr7Ala) rs541501705 0.00015
NM_001909.5(CTSD):c.758A>G (p.Lys253Arg) rs138191189 0.00014
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile) rs202073338 0.00013
NM_001909.5(CTSD):c.142G>A (p.Ala48Thr) rs555516403 0.00013
NM_017882.3(CLN6):c.*246G>A rs886051441 0.00013
NM_017882.3(CLN6):c.*69G>T rs761969677 0.00013
NM_017882.3(CLN6):c.*1023G>A rs760989550 0.00012
NM_001042432.2(CLN3):c.49G>A (p.Glu17Lys) rs386833726 0.00011
NM_001042432.2(CLN3):c.938T>C (p.Leu313Pro) rs141816714 0.00011
NM_001909.5(CTSD):c.592A>G (p.Ile198Val) rs556334193 0.00011
NM_017882.3(CLN6):c.*991C>A rs537819492 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_001909.5(CTSD):c.14G>C (p.Ser5Thr) rs764386803 0.00010
NM_001909.5(CTSD):c.614G>A (p.Arg205His) rs371522391 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_001042432.2(CLN3):c.649C>A (p.Leu217Met) rs150913606 0.00009
NM_001042432.2(CLN3):c.754C>T (p.Pro252Ser) rs769104531 0.00009
NM_006493.4(CLN5):c.-83G>T rs576642281 0.00009
NM_006493.4(CLN5):c.1019A>C (p.Lys340Thr) rs745767054 0.00009
NM_006493.4(CLN5):c.812A>G (p.Asn271Ser) rs199609750 0.00009
NM_017882.3(CLN6):c.*1109G>A rs560713030 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_006493.2(CLN5):c.52C>T (p.Gln18Ter) rs773979248 0.00008
NM_006493.4(CLN5):c.-47C>G rs937545860 0.00008
NM_017882.3(CLN6):c.*470C>T rs565006193 0.00008
NM_017882.3(CLN6):c.*481T>G rs746416658 0.00008
NM_018941.4(CLN8):c.300G>A (p.Gln100=) rs148988002 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_006493.4(CLN5):c.569A>G (p.Asn190Ser) rs369100769 0.00007
NM_017882.3(CLN6):c.*175C>T rs886051444 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.1120G>A (p.Val374Ile) rs759049027 0.00006
NM_001042432.2(CLN3):c.1229C>T (p.Ala410Val) rs369801432 0.00006
NM_001042432.2(CLN3):c.222T>C (p.His74=) rs201225986 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_001909.5(CTSD):c.1084G>A (p.Gly362Arg) rs746733183 0.00006
NM_001909.5(CTSD):c.184G>A (p.Val62Met) rs756892066 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.*179G>C rs886051443 0.00006
NM_017882.3(CLN6):c.11C>T (p.Thr4Met) rs1017662486 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.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_025219.3(DNAJC5):c.524C>T (p.Pro175Leu) rs761982169 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.626C>T (p.Pro209Leu) rs139417824 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.505C>G (p.Leu169Val) rs768487717 0.00005
NM_006493.4(CLN5):c.-21G>A rs529998879 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_001042432.2(CLN3):c.1012C>T (p.Arg338Cys) rs776725094 0.00004
NM_001042432.2(CLN3):c.1087G>A (p.Val363Met) rs370963882 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.460+3G>A rs779238243 0.00004
NM_001042432.2(CLN3):c.568G>A (p.Gly190Arg) rs1311480802 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.470C>T (p.Ser157Leu) rs587779409 0.00004
NM_001909.5(CTSD):c.704+6C>T rs370847523 0.00004
NM_006493.4(CLN5):c.1A>T (p.Met1Leu) rs371624826 0.00004
NM_006493.4(CLN5):c.486C>T (p.Gly162=) rs769007858 0.00004
NM_017882.3(CLN6):c.-101A>G rs555985698 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.601A>G (p.Lys201Glu) rs587780316 0.00004
NM_017882.3(CLN6):c.754C>T (p.Arg252Cys) rs145746878 0.00004
NM_018941.4(CLN8):c.108G>C (p.Leu36Phe) rs746677418 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.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.776A>G (p.Asn259Ser) rs201956727 0.00004
NM_018941.4(CLN8):c.844C>T (p.Arg282Trp) rs587780898 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.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.206C>T (p.Ser69Leu) rs769840061 0.00003
NM_001042432.2(CLN3):c.319C>T (p.Pro107Ser) rs149095062 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.859C>T (p.Pro287Ser) rs796052341 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.74C>T (p.Pro25Leu) rs145852974 0.00003
NM_001909.5(CTSD):c.817C>T (p.His273Tyr) rs145905196 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_006493.4(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.304T>G (p.Trp102Gly) rs1048147140 0.00003
NM_006493.4(CLN5):c.371G>A (p.Ser124Asn) rs369122820 0.00003
NM_006493.4(CLN5):c.420A>G (p.Gln140=) rs753732321 0.00003
NM_006493.4(CLN5):c.572T>C (p.Met191Thr) rs771119692 0.00003
NM_006493.4(CLN5):c.78G>T (p.Trp26Cys) rs104894385 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.-92C>T rs942971560 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.446G>A (p.Arg149His) rs154774638 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.872C>T (p.Pro291Leu) rs373652272 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.470A>G (p.His157Arg) rs149308952 0.00003
NM_018941.4(CLN8):c.503T>C (p.Met168Thr) rs374031055 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.697C>G (p.Leu233Val) rs1380901432 0.00003
NM_018941.4(CLN8):c.94T>C (p.Phe32Leu) rs758068226 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.1186A>G (p.Ile396Val) rs781253826 0.00002
NM_001042432.2(CLN3):c.1305C>G (p.Cys435Trp) rs1216521924 0.00002
NM_001042432.2(CLN3):c.197A>G (p.Lys66Arg) rs769447444 0.00002
NM_001042432.2(CLN3):c.380G>A (p.Arg127Gln) rs780776829 0.00002
NM_001042432.2(CLN3):c.641T>C (p.Leu214Pro) rs749609898 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.19C>G (p.Leu7Val) rs1470191996 0.00002
NM_001909.5(CTSD):c.215A>G (p.Lys72Arg) rs1307108340 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_006493.4(CLN5):c.-84C>A rs558597827 0.00002
NM_006493.4(CLN5):c.176G>A (p.Arg59His) rs753197537 0.00002
NM_006493.4(CLN5):c.339+5G>C rs202146713 0.00002
NM_006493.4(CLN5):c.339+6G>A rs1468101 0.00002
NM_006493.4(CLN5):c.526A>G (p.Lys176Glu) rs142870036 0.00002
NM_006493.4(CLN5):c.80G>A (p.Cys27Tyr) rs796052344 0.00002
NM_006493.4(CLN5):c.892C>T (p.His298Tyr) rs557876713 0.00002
NM_006493.4(CLN5):c.947T>C (p.Ile316Thr) rs182060681 0.00002
NM_017882.3(CLN6):c.343G>A (p.Val115Met) rs762232673 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.49G>A (p.Gly17Ser) rs763944821 0.00002
NM_017882.3(CLN6):c.666-3C>T rs761161043 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_018941.4(CLN8):c.161G>A (p.Arg54His) rs372268977 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.598A>G (p.Met200Val) rs749595247 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_025219.3(DNAJC5):c.229G>A (p.Asp77Asn) rs762638579 0.00002
NM_025219.3(DNAJC5):c.437C>T (p.Thr146Met) rs779453928 0.00002
NC_000013.11:g.76992031C>A rs1168645936 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.1033A>T (p.Thr345Ser) rs150986176 0.00001
NM_001042432.2(CLN3):c.1132A>G (p.Ile378Val) rs147658282 0.00001
NM_001042432.2(CLN3):c.1159G>A (p.Ala387Thr) rs768614719 0.00001
NM_001042432.2(CLN3):c.1192C>G (p.Leu398Val) rs751114018 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.1234A>G (p.Thr412Ala) rs1064795206 0.00001
NM_001042432.2(CLN3):c.1249A>G (p.Thr417Ala) rs570472210 0.00001
NM_001042432.2(CLN3):c.125+6T>C rs745440092 0.00001
NM_001042432.2(CLN3):c.1268C>T (p.Ser423Leu) rs386833706 0.00001
NM_001042432.2(CLN3):c.146A>G (p.Asn49Ser) rs1474384057 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.209G>A (p.Gly70Glu) rs747526330 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+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.328G>A (p.Val110Ile) rs781534624 0.00001
NM_001042432.2(CLN3):c.331A>G (p.Ile111Val) rs1331033517 0.00001
NM_001042432.2(CLN3):c.353G>A (p.Gly118Asp) rs753305901 0.00001
NM_001042432.2(CLN3):c.379C>T (p.Arg127Trp) rs201168980 0.00001
NM_001042432.2(CLN3):c.397A>G (p.Ile133Val) rs1295659689 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.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.538G>A (p.Val180Met) rs202215629 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.67C>T (p.Pro23Ser) rs757558651 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.782C>T (p.Ser261Leu) rs199627744 0.00001
NM_001042432.2(CLN3):c.7G>C (p.Gly3Arg) rs1398814860 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.89A>G (p.His30Arg) rs1399199073 0.00001
NM_001042432.2(CLN3):c.8G>A (p.Gly3Asp) rs756062000 0.00001
NM_001042432.2(CLN3):c.958C>T (p.Arg320Cys) rs768466445 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.1066C>T (p.Leu356Phe) rs775579878 0.00001
NM_001909.5(CTSD):c.1069A>G (p.Lys357Glu) rs765270800 0.00001
NM_001909.5(CTSD):c.1150A>G (p.Ile384Val) rs767863175 0.00001
NM_001909.5(CTSD):c.1159G>A (p.Asp387Asn) rs764522039 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.190G>A (p.Glu64Lys) rs539823013 0.00001
NM_001909.5(CTSD):c.199A>C (p.Ile67Leu) rs1335299144 0.00001
NM_001909.5(CTSD):c.223A>G (p.Met75Val) rs144192783 0.00001
NM_001909.5(CTSD):c.228C>T (p.Asp76=) rs587780914 0.00001
NM_001909.5(CTSD):c.241G>A (p.Gly81Arg) rs199551387 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.353-7G>A rs1438596750 0.00001
NM_001909.5(CTSD):c.371A>G (p.Asn124Ser) rs375052866 0.00001
NM_001909.5(CTSD):c.380A>T (p.Lys127Met) rs1438409242 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.488C>T (p.Ala163Val) rs772976217 0.00001
NM_001909.5(CTSD):c.491C>T (p.Ser164Leu) rs1845824897 0.00001
NM_001909.5(CTSD):c.518A>G (p.Lys173Arg) rs746140722 0.00001
NM_001909.5(CTSD):c.631G>A (p.Val211Met) rs779469223 0.00001
NM_001909.5(CTSD):c.640G>A (p.Val214Ile) rs756998360 0.00001
NM_001909.5(CTSD):c.716C>T (p.Ala239Val) rs759564989 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.829G>A (p.Val277Met) rs372319807 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.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+6C>T rs765320531 0.00001
NM_001909.5(CTSD):c.978G>A (p.Met326Ile) rs370282882 0.00001
NM_006493.4(CLN5):c.-113G>T rs1465531119 0.00001
NM_006493.4(CLN5):c.-11G>C rs774598730 0.00001
NM_006493.4(CLN5):c.-74T>C rs1182554801 0.00001
NM_006493.4(CLN5):c.-86C>T rs988786332 0.00001
NM_006493.4(CLN5):c.13G>A (p.Val5Ile) rs1064795659 0.00001
NM_006493.4(CLN5):c.148C>T (p.Arg50Trp) rs763892391 0.00001
NM_006493.4(CLN5):c.151C>A (p.Arg51Ser) rs374080049 0.00001
NM_006493.4(CLN5):c.17A>G (p.Asp6Gly) rs759063887 0.00001
NM_006493.4(CLN5):c.247A>G (p.Ile83Val) rs750283603 0.00001
NM_006493.4(CLN5):c.26A>G (p.Gln9Arg) rs1230755416 0.00001
NM_006493.4(CLN5):c.296C>T (p.Ala99Val) rs143759121 0.00001
NM_006493.4(CLN5):c.31G>T (p.Ala11Ser) rs563306322 0.00001
NM_006493.4(CLN5):c.323A>C (p.Asp108Ala) rs368672718 0.00001
NM_006493.4(CLN5):c.3G>A (p.Met1Ile) rs1464891081 0.00001
NM_006493.4(CLN5):c.430T>C (p.Cys144Arg) rs1593911055 0.00001
NM_006493.4(CLN5):c.467C>T (p.Pro156Leu) rs780802058 0.00001
NM_006493.4(CLN5):c.490G>T (p.Ala164Ser) rs748549252 0.00001
NM_006493.4(CLN5):c.505G>A (p.Gly169Arg) rs1420822940 0.00001
NM_006493.4(CLN5):c.565+6T>C rs758229107 0.00001
NM_006493.4(CLN5):c.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.755T>C (p.Ile252Thr) rs1439976492 0.00001
NM_006493.4(CLN5):c.764A>C (p.Asn255Thr) rs929479143 0.00001
NM_006493.4(CLN5):c.773G>A (p.Arg258Lys) rs376675270 0.00001
NM_006493.4(CLN5):c.784T>C (p.Tyr262His) rs1262072010 0.00001
NM_006493.4(CLN5):c.904A>G (p.Lys302Glu) rs1060502320 0.00001
NM_006493.4(CLN5):c.935T>C (p.Phe312Ser) rs201767993 0.00001
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys) rs148862100 0.00001
NM_017882.3(CLN6):c.*300C>T rs886051439 0.00001
NM_017882.3(CLN6):c.*446C>T rs1249079296 0.00001
NM_017882.3(CLN6):c.*532T>A rs886051437 0.00001
NM_017882.3(CLN6):c.*749T>C rs1189755650 0.00001
NM_017882.3(CLN6):c.-22C>A rs886051448 0.00001
NM_017882.3(CLN6):c.133C>T (p.Leu45Phe) rs964241858 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.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.311C>A (p.Ser104Tyr) rs777921628 0.00001
NM_017882.3(CLN6):c.317G>A (p.Arg106His) rs781133812 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.346A>G (p.Ser116Gly) rs2093206402 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.509A>G (p.Tyr170Cys) rs750081097 0.00001
NM_017882.3(CLN6):c.547A>G (p.Ile183Val) rs766500060 0.00001
NM_017882.3(CLN6):c.581G>T (p.Ser194Ile) rs777142645 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.61G>A (p.Gly21Ser) rs916017530 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.718G>A (p.Ala240Thr) rs779105796 0.00001
NM_017882.3(CLN6):c.748C>T (p.Arg250Cys) rs950362413 0.00001
NM_017882.3(CLN6):c.757C>G (p.Leu253Val) rs1274562752 0.00001
NM_017882.3(CLN6):c.794C>T (p.Ser265Phe) rs771007065 0.00001
NM_017882.3(CLN6):c.850C>T (p.Pro284Ser) rs369715206 0.00001
NM_017882.3(CLN6):c.886G>A (p.Val296Ile) rs781449103 0.00001
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg) rs750937323 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.140C>T (p.Ser47Phe) rs765158624 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.256C>T (p.Leu86=) rs755248868 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.335G>T (p.Gly112Val) rs1304439072 0.00001
NM_018941.4(CLN8):c.364C>T (p.His122Tyr) rs746051539 0.00001
NM_018941.4(CLN8):c.406G>T (p.Val136Phe) rs187297173 0.00001
NM_018941.4(CLN8):c.41T>C (p.Phe14Ser) rs957551479 0.00001
NM_018941.4(CLN8):c.488C>T (p.Thr163Met) rs781099399 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.716C>T (p.Ala239Val) rs913988013 0.00001
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys) rs587779411 0.00001
NM_018941.4(CLN8):c.832G>A (p.Gly278Arg) rs1358513612 0.00001
NM_018941.4(CLN8):c.845G>A (p.Arg282Gln) rs766172825 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.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.203C>T (p.Thr68Met) rs1382120578 0.00001
NM_025219.3(DNAJC5):c.208G>A (p.Ala70Thr) rs769269113 0.00001
NM_025219.3(DNAJC5):c.31A>G (p.Thr11Ala) rs796052408 0.00001
NM_025219.3(DNAJC5):c.321+8C>T rs773607766 0.00001
NM_025219.3(DNAJC5):c.370T>G (p.Cys124Gly) rs373850027 0.00001
NM_025219.3(DNAJC5):c.55G>A (p.Val19Ile) rs981499477 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.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_000011.9:g.(?_1774733)_(1778806_?)del
NC_000011.9:g.(?_1774733)_(1778806_?)dup
NC_000011.9:g.(?_1774733)_(1785089_?)dup
NC_000011.9:g.(?_1774733)_(2019125_?)dup
NC_000011.9:g.(?_532616)_(2906985_?)dup
NC_000011.9:g.(?_5709028)_(6640651_?)dup
NC_000013.10:g.(?_77566087)_(77575104_?)dup
NC_000013.11:g.(?_76991932)_(77000989_?)dup
NC_000013.11:g.76991974G>C rs1037355085
NC_000013.11:g.76991982T>C rs755587208
NC_000013.11:g.76991986G>A rs1465531119
NC_000013.11:g.76992025T>A rs1182554801
NC_000013.11:g.76992027G>C rs2154034205
NC_000013.11:g.76992036C>T rs2154034208
NC_000013.11:g.76992041G>A rs2154034210
NC_000013.11:g.76992063G>A rs1351624850
NC_000013.11:g.76992066T>A rs1223625391
NC_000013.11:g.76992066T>G rs1223625391
NC_000013.11:g.76992067C>T rs61504484
NC_000015.9:g.(?_66161924)_(69018313_?)dup
NC_000015.9:g.(?_68500478)_(68521922_?)dup
NC_000016.10:g.(?_28475343)_(28477877_?)dup
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.(?_28488837)_(28489218_?)dup
NC_000016.9:g.(?_28488837)_(28495459_?)dup
NC_000016.9:g.(?_28499892)_(28503100_?)dup
NC_000016.9:g.(?_28499902)_(28503090_?)dup
NC_000020.10:g.(?_61978090)_(62562921_?)del
NC_000020.10:g.(?_61978090)_(62562921_?)dup
NC_000020.10:g.(?_62542275)_(62559715_?)del
NC_000020.10:g.(?_62559679)_(62562941_?)dup
NC_000020.10:g.(?_62559688)_(62567384_?)dup
NC_000020.10:g.(?_62559699)_(62562395_?)del
NC_000020.11:g.(?_63928326)_(63931588_?)del
NM_000391.4(TPP1):c.763G>C (p.Ala255Pro) rs1356628460
NM_001042432.2(CLN3):c.1003T>C (p.Ser335Pro) rs1567257016
NM_001042432.2(CLN3):c.1019G>A (p.Cys340Tyr) rs1174122334
NM_001042432.2(CLN3):c.101A>T (p.His34Leu)
NM_001042432.2(CLN3):c.1043T>C (p.Leu348Pro)
NM_001042432.2(CLN3):c.1046C>T (p.Ala349Val) rs2141702560
NM_001042432.2(CLN3):c.1056+5C>A
NM_001042432.2(CLN3):c.1056+6A>G rs2141702501
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.1069G>T (p.Val357Leu) rs1567254103
NM_001042432.2(CLN3):c.1084G>A (p.Asp362Asn) rs2046022965
NM_001042432.2(CLN3):c.1088T>G (p.Val363Gly)
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.1108A>G (p.Ser370Gly) rs2141694271
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.1138T>C (p.Tyr380His)
NM_001042432.2(CLN3):c.1147C>T (p.Leu383Phe)
NM_001042432.2(CLN3):c.1160C>T (p.Ala387Val) rs2141694140
NM_001042432.2(CLN3):c.1162G>A (p.Ala388Thr)
NM_001042432.2(CLN3):c.1166A>T (p.Tyr389Phe)
NM_001042432.2(CLN3):c.1178T>A (p.Phe393Tyr) rs2141694088
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.1189G>A (p.Ala397Thr)
NM_001042432.2(CLN3):c.1198-3C>T rs2046017696
NM_001042432.2(CLN3):c.1204G>A (p.Asp402Asn)
NM_001042432.2(CLN3):c.1210C>T (p.His404Tyr) rs146610181
NM_001042432.2(CLN3):c.1231G>T (p.Ala411Ser)
NM_001042432.2(CLN3):c.1265T>C (p.Leu422Pro) rs2046014482
NM_001042432.2(CLN3):c.1267dup (p.Ser423fs)
NM_001042432.2(CLN3):c.1276C>G (p.Leu426Val) rs1596619187
NM_001042432.2(CLN3):c.1285C>T (p.Pro429Ser) rs1433950864
NM_001042432.2(CLN3):c.1291C>T (p.His431Tyr) rs759510380
NM_001042432.2(CLN3):c.136C>G (p.Leu46Val)
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.159G>A (p.Val53=) rs2046275556
NM_001042432.2(CLN3):c.170G>A (p.Ser57Asn)
NM_001042432.2(CLN3):c.191G>A (p.Ser64Asn) rs2046274351
NM_001042432.2(CLN3):c.196A>C (p.Lys66Gln)
NM_001042432.2(CLN3):c.206C>G (p.Ser69Trp) rs769840061
NM_001042432.2(CLN3):c.214_216del (p.Gln72del) rs1473036975
NM_001042432.2(CLN3):c.218G>A (p.Ser73Asn)
NM_001042432.2(CLN3):c.222+5G>C rs386833711
NM_001042432.2(CLN3):c.236C>T (p.Pro79Leu) rs1596564333
NM_001042432.2(CLN3):c.238A>G (p.Thr80Ala) rs150348015
NM_001042432.2(CLN3):c.23G>A (p.Arg8Gln)
NM_001042432.2(CLN3):c.248C>T (p.Pro83Leu)
NM_001042432.2(CLN3):c.251A>G (p.His84Arg) rs2046262515
NM_001042432.2(CLN3):c.260C>T (p.Ser87Leu) rs2141717001
NM_001042432.2(CLN3):c.266G>T (p.Arg89Leu) rs766287694
NM_001042432.2(CLN3):c.270T>G (p.Phe90Leu) rs145520962
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.293C>A (p.Ala98Asp) rs1361279384
NM_001042432.2(CLN3):c.293C>T (p.Ala98Val)
NM_001042432.2(CLN3):c.294+4C>T
NM_001042432.2(CLN3):c.294+8_294+10inv
NM_001042432.2(CLN3):c.29G>A (p.Arg10His)
NM_001042432.2(CLN3):c.304C>G (p.Leu102Val) rs1167562278
NM_001042432.2(CLN3):c.307G>A (p.Ala103Thr)
NM_001042432.2(CLN3):c.313A>T (p.Ile105Phe)
NM_001042432.2(CLN3):c.320C>G (p.Pro107Arg)
NM_001042432.2(CLN3):c.320C>T (p.Pro107Leu) rs1231056238
NM_001042432.2(CLN3):c.322A>G (p.Thr108Ala) rs1302804526
NM_001042432.2(CLN3):c.323C>T (p.Thr108Ile)
NM_001042432.2(CLN3):c.326T>C (p.Leu109Pro)
NM_001042432.2(CLN3):c.358C>A (p.His120Asn) rs145749864
NM_001042432.2(CLN3):c.358C>T (p.His120Tyr)
NM_001042432.2(CLN3):c.362T>G (p.Leu121Arg) rs2046244488
NM_001042432.2(CLN3):c.367C>T (p.Pro123Ser) rs1567261702
NM_001042432.2(CLN3):c.374G>A (p.Ser125Asn) rs386833716
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.397A>T (p.Ile133Phe) rs1295659689
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.419T>C (p.Val140Ala)
NM_001042432.2(CLN3):c.41C>T (p.Ser14Phe) rs2141722690
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.427G>A (p.Ala143Thr) rs904694610
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.443_445del (p.Val148del) rs752130042
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+5G>A
NM_001042432.2(CLN3):c.461-3C>T rs181995380
NM_001042432.2(CLN3):c.466G>C (p.Val156Leu)
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.490C>G (p.Leu164Val)
NM_001042432.2(CLN3):c.497A>G (p.Glu166Gly) rs2141712916
NM_001042432.2(CLN3):c.505T>G (p.Phe169Val) rs1392387565
NM_001042432.2(CLN3):c.512C>T (p.Ser171Phe) rs1401497994
NM_001042432.2(CLN3):c.526T>C (p.Tyr176His) rs1191755724
NM_001042432.2(CLN3):c.530C>T (p.Pro177Leu)
NM_001042432.2(CLN3):c.533+3_533+10del rs2141712782
NM_001042432.2(CLN3):c.533+6C>T rs2141712792
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.54G>T (p.Glu18Asp) rs2141722130
NM_001042432.2(CLN3):c.554C>T (p.Ser185Phe) rs2046221010
NM_001042432.2(CLN3):c.560G>A (p.Gly187Glu)
NM_001042432.2(CLN3):c.56C>T (p.Thr19Ile)
NM_001042432.2(CLN3):c.575G>A (p.Gly192Glu) rs386833733
NM_001042432.2(CLN3):c.589C>G (p.Leu197Val) rs753705869
NM_001042432.2(CLN3):c.608C>T (p.Thr203Ile)
NM_001042432.2(CLN3):c.611A>C (p.Gln204Pro) rs2141712276
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.644C>T (p.Ser215Phe)
NM_001042432.2(CLN3):c.646A>G (p.Met216Val) rs2046218124
NM_001042432.2(CLN3):c.662C>T (p.Ala221Val)
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+5G>C
NM_001042432.2(CLN3):c.688T>A (p.Leu230Met) rs746075287
NM_001042432.2(CLN3):c.689T>G (p.Leu230Trp) rs2046161855
NM_001042432.2(CLN3):c.698C>A (p.Ser233Tyr) rs2046161412
NM_001042432.2(CLN3):c.707C>T (p.Ala236Val) rs754906598
NM_001042432.2(CLN3):c.726A>T (p.Glu242Asp) rs2046160396
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.749G>C (p.Arg250Pro) rs374217931
NM_001042432.2(CLN3):c.755C>T (p.Pro252Leu) rs761065339
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.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.790G>T (p.Gly264Cys) rs2046156366
NM_001042432.2(CLN3):c.793T>G (p.Ser265Ala) rs2141704251
NM_001042432.2(CLN3):c.794C>T (p.Ser265Phe)
NM_001042432.2(CLN3):c.7G>A (p.Gly3Ser) rs1398814860
NM_001042432.2(CLN3):c.805C>T (p.Leu269Phe) rs1308474116
NM_001042432.2(CLN3):c.80T>C (p.Leu27Pro)
NM_001042432.2(CLN3):c.832T>A (p.Phe278Ile) rs1567257709
NM_001042432.2(CLN3):c.837+3del rs759553835
NM_001042432.2(CLN3):c.837+4C>T rs778372397
NM_001042432.2(CLN3):c.845_847dup (p.Leu282_Trp283insLeu)
NM_001042432.2(CLN3):c.853A>G (p.Ile285Val) rs748844685
NM_001042432.2(CLN3):c.859C>A (p.Pro287Thr) rs796052341
NM_001042432.2(CLN3):c.868G>T (p.Val290Leu) rs369008702
NM_001042432.2(CLN3):c.87C>A (p.Asp29Glu) rs1131691496
NM_001042432.2(CLN3):c.884A>G (p.Glu295Gly) rs2141703722
NM_001042432.2(CLN3):c.906+15C>G
NM_001042432.2(CLN3):c.907-3C>T
NM_001042432.2(CLN3):c.916C>T (p.Leu306Phe)
NM_001042432.2(CLN3):c.931A>G (p.Thr311Ala)
NM_001042432.2(CLN3):c.943C>G (p.His315Asp) rs2141703350
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.956A>G (p.Tyr319Cys) rs1322613715
NM_001042432.2(CLN3):c.962+2dup
NM_001042432.2(CLN3):c.962+4A>G rs1596556713
NM_001042432.2(CLN3):c.995C>T (p.Ala332Val)
NM_001909.5(CTSD):c.1009G>T (p.Ala337Ser) rs147800688
NM_001909.5(CTSD):c.1012A>C (p.Ile338Leu)
NM_001909.5(CTSD):c.1034A>G (p.Lys345Arg) rs1845759906
NM_001909.5(CTSD):c.1064C>T (p.Thr355Met)
NM_001909.5(CTSD):c.106A>G (p.Met36Val)
NM_001909.5(CTSD):c.1071+10C>T rs2133657508
NM_001909.5(CTSD):c.1072-1G>A
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.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.1146_1147del (p.Trp383fs) rs2133657191
NM_001909.5(CTSD):c.1147_1148del (p.Trp383fs) rs2133657189
NM_001909.5(CTSD):c.115G>A (p.Val39Ile)
NM_001909.5(CTSD):c.115G>C (p.Val39Leu)
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.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.1210G>T (p.Val404Leu) rs750489880
NM_001909.5(CTSD):c.1213G>A (p.Gly405Ser)
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.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>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.161A>G (p.Lys54Arg) rs1565023298
NM_001909.5(CTSD):c.166T>C (p.Ser56Pro)
NM_001909.5(CTSD):c.16C>T (p.Leu6Phe) rs1590909993
NM_001909.5(CTSD):c.173C>A (p.Ala58Glu)
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.190G>C (p.Glu64Gln) rs539823013
NM_001909.5(CTSD):c.1A>G (p.Met1Val)
NM_001909.5(CTSD):c.203C>T (p.Pro68Leu) rs11555044
NM_001909.5(CTSD):c.211C>T (p.Leu71Phe)
NM_001909.5(CTSD):c.22C>T (p.Pro8Ser) rs1590909988
NM_001909.5(CTSD):c.253A>G (p.Ile85Val) rs1565022412
NM_001909.5(CTSD):c.256G>A (p.Gly86Arg) rs1845850566
NM_001909.5(CTSD):c.262C>G (p.Pro88Ala) rs796052400
NM_001909.5(CTSD):c.262C>T (p.Pro88Ser)
NM_001909.5(CTSD):c.269A>G (p.Gln90Arg)
NM_001909.5(CTSD):c.271T>C (p.Cys91Arg) rs1042278213
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.304A>C (p.Asn102His) rs2133664207
NM_001909.5(CTSD):c.307C>G (p.Leu103Val) rs750415207
NM_001909.5(CTSD):c.313G>A (p.Val105Ile) rs897944478
NM_001909.5(CTSD):c.339G>A (p.Leu113=) rs2133664177
NM_001909.5(CTSD):c.343A>G (p.Ile115Val)
NM_001909.5(CTSD):c.347C>T (p.Ala116Val)
NM_001909.5(CTSD):c.353-6G>A rs1565022065
NM_001909.5(CTSD):c.355A>G (p.Ile119Val)
NM_001909.5(CTSD):c.358C>T (p.His120Tyr) rs1381781298
NM_001909.5(CTSD):c.370A>G (p.Asn124Asp) rs1590907227
NM_001909.5(CTSD):c.378C>A (p.Asp126Glu)
NM_001909.5(CTSD):c.394G>A (p.Val132Met) rs770820791
NM_001909.5(CTSD):c.407C>T (p.Thr136Ile)
NM_001909.5(CTSD):c.409T>A (p.Ser137Thr) rs1845842497
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.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.471+6T>G rs2133663481
NM_001909.5(CTSD):c.472G>A (p.Val158Met)
NM_001909.5(CTSD):c.478T>C (p.Cys160Arg) rs1845825044
NM_001909.5(CTSD):c.493T>A (p.Ser165Thr)
NM_001909.5(CTSD):c.497C>T (p.Ala166Val) rs796052396
NM_001909.5(CTSD):c.502G>T (p.Ala168Ser) rs1554962647
NM_001909.5(CTSD):c.508G>A (p.Gly170Ser)
NM_001909.5(CTSD):c.509G>A (p.Gly170Asp) rs1845824451
NM_001909.5(CTSD):c.52G>C (p.Ala18Pro) rs796052403
NM_001909.5(CTSD):c.555G>T (p.Gln185His)
NM_001909.5(CTSD):c.566C>T (p.Thr189Ile) rs1554962634
NM_001909.5(CTSD):c.571A>G (p.Ile191Val) rs750166391
NM_001909.5(CTSD):c.574G>A (p.Ala192Thr) rs767282477
NM_001909.5(CTSD):c.586G>A (p.Asp196Asn) rs1388675826
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.646G>A (p.Asp216Asn) rs1235872591
NM_001909.5(CTSD):c.64G>T (p.Val22Phe) rs1060502503
NM_001909.5(CTSD):c.657G>T (p.Met219Ile)
NM_001909.5(CTSD):c.665A>G (p.Lys222Arg) rs1845822086
NM_001909.5(CTSD):c.670G>A (p.Val224Met)
NM_001909.5(CTSD):c.671T>A (p.Val224Glu)
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.69-12C>A rs764025297
NM_001909.5(CTSD):c.692_694del (p.Phe231del) rs1478615059
NM_001909.5(CTSD):c.704+6C>A rs370847523
NM_001909.5(CTSD):c.70A>T (p.Ile24Phe) rs1845876465
NM_001909.5(CTSD):c.725G>T (p.Gly242Val)
NM_001909.5(CTSD):c.72C>G (p.Ile24Met)
NM_001909.5(CTSD):c.767A>G (p.Lys256Arg)
NM_001909.5(CTSD):c.797G>A (p.Arg266His)
NM_001909.5(CTSD):c.799A>C (p.Lys267Gln) rs749091423
NM_001909.5(CTSD):c.827+5G>A
NM_001909.5(CTSD):c.828-19_828-18delinsCT
NM_001909.5(CTSD):c.828-3C>A
NM_001909.5(CTSD):c.829G>T (p.Val277Leu)
NM_001909.5(CTSD):c.82A>G (p.Lys28Glu)
NM_001909.5(CTSD):c.832G>C (p.Glu278Gln) rs1402574017
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.851C>G (p.Thr284Ser)
NM_001909.5(CTSD):c.863A>G (p.Glu288Gly)
NM_001909.5(CTSD):c.887C>G (p.Thr296Arg)
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.918T>G (p.Asp306Glu)
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys) rs373699222
NM_001909.5(CTSD):c.94A>G (p.Ile32Val)
NM_001909.5(CTSD):c.952G>A (p.Val318Met)
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+4A>G rs2133657784
NM_001909.5(CTSD):c.972+4_972+5dup rs1386489811
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.98G>A (p.Arg33His)
NM_001909.5(CTSD):c.993G>C (p.Lys331Asn) rs1181418072
NM_006493.2(CLN5):c.101C>A (p.Pro34Gln)
NM_006493.2(CLN5):c.104C>T (p.Ala35Val)
NM_006493.2(CLN5):c.107C>A (p.Ser36Ter)
NM_006493.2(CLN5):c.107C>T (p.Ser36Leu)
NM_006493.2(CLN5):c.10A>T (p.Asn4Tyr) rs1336864663
NM_006493.2(CLN5):c.10_22delAACCTGCGCTTGG (p.Asn4Glyfs)
NM_006493.2(CLN5):c.116C>A (p.Ser39Ter) rs61504484
NM_006493.2(CLN5):c.16C>A (p.Arg6Ser)
NM_006493.2(CLN5):c.17G>T (p.Arg6Leu) rs1391354551
NM_006493.2(CLN5):c.20T>C (p.Leu7Ser)
NM_006493.2(CLN5):c.25C>A (p.Pro9Thr)
NM_006493.2(CLN5):c.31T>A (p.Ser11Thr)
NM_006493.2(CLN5):c.31T>G (p.Ser11Ala)
NM_006493.2(CLN5):c.32C>G (p.Ser11Cys)
NM_006493.2(CLN5):c.42C>G (p.Asp14Glu) rs1259746826
NM_006493.2(CLN5):c.50G>A (p.Gly17Glu) rs769990158
NM_006493.2(CLN5):c.52C>A (p.Gln18Lys) rs773979248
NM_006493.2(CLN5):c.53A>G (p.Gln18Arg) rs1287993760
NM_006493.2(CLN5):c.54A>C (p.Gln18His)
NM_006493.2(CLN5):c.64C>G (p.Arg22Gly)
NM_006493.2(CLN5):c.64C>T (p.Arg22Cys) rs558597827
NM_006493.2(CLN5):c.82C>T (p.Pro28Ser)
NM_006493.3(CLN5):c.-126G>T (p.Gly8Trp) rs762873839
NM_006493.4(CLN5):c.-11G>A rs774598730
NM_006493.4(CLN5):c.-23C>T rs949213778
NM_006493.4(CLN5):c.-75C>G rs754544785
NM_006493.4(CLN5):c.-86C>G rs988786332
NM_006493.4(CLN5):c.-94A>T rs767480061
NM_006493.4(CLN5):c.-96C>G rs773979248
NM_006493.4(CLN5):c.-97del rs765323914
NM_006493.4(CLN5):c.-99G>A rs202118652
NM_006493.4(CLN5):c.1000A>G (p.Met334Val) rs747998609
NM_006493.4(CLN5):c.1009C>G (p.Pro337Ala)
NM_006493.4(CLN5):c.1021A>G (p.Ile341Val)
NM_006493.4(CLN5):c.1022T>C (p.Ile341Thr)
NM_006493.4(CLN5):c.1041_1042delinsCC (p.Pro347_Leu348=)
NM_006493.4(CLN5):c.1051A>G (p.Arg351Gly) rs2154035217
NM_006493.4(CLN5):c.1057A>G (p.Lys353Glu)
NM_006493.4(CLN5):c.1067_1068del (p.Ser356fs) rs796052345
NM_006493.4(CLN5):c.1074A>T (p.Leu358Phe) rs1555274416
NM_006493.4(CLN5):c.107C>T (p.Ala36Val) rs2154034272
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.12G>C (p.Glu4Asp)
NM_006493.4(CLN5):c.134C>T (p.Ser45Leu)
NM_006493.4(CLN5):c.142C>A (p.Pro48Thr) rs1131691423
NM_006493.4(CLN5):c.149G>A (p.Arg50Gln)
NM_006493.4(CLN5):c.162G>A (p.Pro54=) rs754303449
NM_006493.4(CLN5):c.170A>G (p.Tyr57Cys)
NM_006493.4(CLN5):c.172A>G (p.Lys58Glu)
NM_006493.4(CLN5):c.173+5G>A rs2034192763
NM_006493.4(CLN5):c.175C>A (p.Arg59Ser) rs765773686
NM_006493.4(CLN5):c.175C>T (p.Arg59Cys) rs765773686
NM_006493.4(CLN5):c.176G>T (p.Arg59Leu) rs753197537
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro) rs104894386
NM_006493.4(CLN5):c.188G>T (p.Arg63Leu)
NM_006493.4(CLN5):c.19A>T (p.Thr7Ser) rs541501705
NM_006493.4(CLN5):c.203C>T (p.Pro68Leu) rs2154034626
NM_006493.4(CLN5):c.215C>G (p.Ala72Gly)
NM_006493.4(CLN5):c.215C>T (p.Ala72Val) rs2154034628
NM_006493.4(CLN5):c.224C>T (p.Thr75Ile) rs376336781
NM_006493.4(CLN5):c.229T>A (p.Cys77Ser) rs2034242824
NM_006493.4(CLN5):c.236C>T (p.Thr79Ile)
NM_006493.4(CLN5):c.244C>T (p.Pro82Ser)
NM_006493.4(CLN5):c.248T>C (p.Ile83Thr)
NM_006493.4(CLN5):c.248T>G (p.Ile83Ser) rs2034243356
NM_006493.4(CLN5):c.270T>A (p.Asp90Glu) rs898862493
NM_006493.4(CLN5):c.279A>T (p.Glu93Asp) rs2154034642
NM_006493.4(CLN5):c.287G>A (p.Arg96Gln) rs201068201
NM_006493.4(CLN5):c.287G>T (p.Arg96Leu)
NM_006493.4(CLN5):c.291A>C (p.Leu97Phe) rs2154034643
NM_006493.4(CLN5):c.335A>T (p.His112Leu)
NM_006493.4(CLN5):c.336C>G (p.His112Gln) rs2034245418
NM_006493.4(CLN5):c.339G>C (p.Leu113Phe) rs147214555
NM_006493.4(CLN5):c.347T>C (p.Met116Thr) rs2154034705
NM_006493.4(CLN5):c.358A>G (p.Ile120Val) rs1231886495
NM_006493.4(CLN5):c.359T>C (p.Ile120Thr)
NM_006493.4(CLN5):c.37A>G (p.Met13Val)
NM_006493.4(CLN5):c.38T>C (p.Met13Thr) rs1007145426
NM_006493.4(CLN5):c.391T>C (p.Tyr131His)
NM_006493.4(CLN5):c.395C>T (p.Thr132Ile) rs1305273453
NM_006493.4(CLN5):c.398T>G (p.Met133Arg) rs1419308949
NM_006493.4(CLN5):c.422T>C (p.Leu141Pro)
NM_006493.4(CLN5):c.43C>T (p.Arg15Trp) rs772949539
NM_006493.4(CLN5):c.442C>T (p.His148Tyr) rs752563013
NM_006493.4(CLN5):c.446T>C (p.Leu149Pro) rs386833976
NM_006493.4(CLN5):c.449G>A (p.Arg150Gln) rs1014000261
NM_006493.4(CLN5):c.451C>T (p.Pro151Ser) rs777080820
NM_006493.4(CLN5):c.460G>C (p.Asp154His)
NM_006493.4(CLN5):c.464C>T (p.Ala155Val) rs2154034734
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser) rs386833977
NM_006493.4(CLN5):c.46G>A (p.Gly16Ser)
NM_006493.4(CLN5):c.47GCGCGG[3] (p.16GA[3]) rs1409904698
NM_006493.4(CLN5):c.48C>T (p.Gly16=) rs1448304779
NM_006493.4(CLN5):c.500T>C (p.Phe167Ser) rs1393893027
NM_006493.4(CLN5):c.515A>G (p.Asp172Gly)
NM_006493.4(CLN5):c.535G>T (p.Gly179Trp) rs2034263363
NM_006493.4(CLN5):c.544G>A (p.Val182Ile) rs1064795474
NM_006493.4(CLN5):c.550G>A (p.Val184Ile) rs1566219289
NM_006493.4(CLN5):c.563C>T (p.Ser188Leu)
NM_006493.4(CLN5):c.573G>A (p.Met191Ile) rs2034339154
NM_006493.4(CLN5):c.574T>G (p.Phe192Val) rs1555274325
NM_006493.4(CLN5):c.587C>T (p.Ala196Val) rs2034339472
NM_006493.4(CLN5):c.59C>T (p.Ala20Val)
NM_006493.4(CLN5):c.62G>A (p.Arg21Gln) rs2034188293
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.675G>C (p.Trp225Cys) rs1555274338
NM_006493.4(CLN5):c.702T>G (p.Phe234Leu) rs1593914834
NM_006493.4(CLN5):c.704T>C (p.Val235Ala) rs535755345
NM_006493.4(CLN5):c.739G>A (p.Ala247Thr)
NM_006493.4(CLN5):c.745T>G (p.Phe249Val)
NM_006493.4(CLN5):c.74C>T (p.Ser25Phe) rs1085307868
NM_006493.4(CLN5):c.751A>G (p.Asn251Asp)
NM_006493.4(CLN5):c.756A>G (p.Ile252Met)
NM_006493.4(CLN5):c.757G>C (p.Glu253Gln) rs1232560552
NM_006493.4(CLN5):c.773G>T (p.Arg258Ile) rs376675270
NM_006493.4(CLN5):c.77G>C (p.Trp26Ser) rs764790770
NM_006493.4(CLN5):c.788G>A (p.Ser263Asn) rs730882146
NM_006493.4(CLN5):c.818C>T (p.Thr273Ile)
NM_006493.4(CLN5):c.866A>G (p.Lys289Arg)
NM_006493.4(CLN5):c.875A>T (p.Tyr292Phe)
NM_006493.4(CLN5):c.885C>G (p.Phe295Leu) rs772050001
NM_006493.4(CLN5):c.889C>A (p.Pro297Thr)
NM_006493.4(CLN5):c.902C>A (p.Thr301Asn) rs1298505272
NM_006493.4(CLN5):c.928C>G (p.Gln310Glu)
NM_006493.4(CLN5):c.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.947T>G (p.Ile316Ser)
NM_006493.4(CLN5):c.955A>G (p.Lys319Glu) rs202171514
NM_006493.4(CLN5):c.958C>G (p.Gln320Glu)
NM_006493.4(CLN5):c.959A>G (p.Gln320Arg)
NM_006493.4(CLN5):c.98T>A (p.Leu33His)
NM_006493.4(CLN5):c.990G>T (p.Trp330Cys) rs386833968
NM_017882.3(CLN6):c.*224T>C rs886051442
NM_017882.3(CLN6):c.*264T>C rs886051440
NM_017882.3(CLN6):c.*345C>T rs2093191394
NM_017882.3(CLN6):c.*526A>G rs886051438
NM_017882.3(CLN6):c.*887G>T rs886051436
NM_017882.3(CLN6):c.*88G>A rs886051446
NM_017882.3(CLN6):c.-108G>C rs865972073
NM_017882.3(CLN6):c.108G>T (p.Glu36Asp) rs1226528243
NM_017882.3(CLN6):c.112G>T (p.Ala38Ser)
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.119C>A (p.Thr40Lys) rs769199442
NM_017882.3(CLN6):c.119C>T (p.Thr40Met) rs769199442
NM_017882.3(CLN6):c.124C>G (p.Pro42Ala) rs1003606439
NM_017882.3(CLN6):c.124C>T (p.Pro42Ser) rs1003606439
NM_017882.3(CLN6):c.146T>A (p.Phe49Tyr)
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.185G>A (p.Arg62His) rs751486476
NM_017882.3(CLN6):c.190A>G (p.Ile64Val)
NM_017882.3(CLN6):c.196A>G (p.Met66Val) rs1430705796
NM_017882.3(CLN6):c.198+3G>C
NM_017882.3(CLN6):c.198+5G>A
NM_017882.3(CLN6):c.199-12T>G
NM_017882.3(CLN6):c.202G>C (p.Val68Leu)
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.224C>T (p.Pro75Leu) rs1595819607
NM_017882.3(CLN6):c.230A>C (p.Asn77Thr) rs776974644
NM_017882.3(CLN6):c.268A>G (p.Asn90Asp) rs2093214490
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.284T>C (p.Phe95Ser)
NM_017882.3(CLN6):c.28C>G (p.Leu10Val) rs1457277891
NM_017882.3(CLN6):c.297+4C>T rs1030759897
NM_017882.3(CLN6):c.297G>C (p.Lys99Asn)
NM_017882.3(CLN6):c.299T>G (p.Leu100Arg) rs1555438702
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.329G>T (p.Arg110Leu) rs140179213
NM_017882.3(CLN6):c.32G>C (p.Gly11Ala) rs2093262694
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.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.377T>C (p.Ile126Thr) rs2141139324
NM_017882.3(CLN6):c.388G>A (p.Gly130Ser)
NM_017882.3(CLN6):c.401A>G (p.Asn134Ser)
NM_017882.3(CLN6):c.403C>G (p.His135Asp)
NM_017882.3(CLN6):c.40G>A (p.Gly14Ser) rs2093262651
NM_017882.3(CLN6):c.410T>A (p.Leu137Gln)
NM_017882.3(CLN6):c.412C>T (p.Leu138Phe)
NM_017882.3(CLN6):c.431A>G (p.His144Arg) rs1595818258
NM_017882.3(CLN6):c.455C>G (p.Pro152Arg) rs2141139183
NM_017882.3(CLN6):c.469C>A (p.Leu157Ile) rs2093205792
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu) rs919850756
NM_017882.3(CLN6):c.487-12T>A rs571940397
NM_017882.3(CLN6):c.487-3C>G rs1468531022
NM_017882.3(CLN6):c.487-7C>G rs2141138813
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.497T>C (p.Phe166Ser) rs2093204354
NM_017882.3(CLN6):c.4G>A (p.Glu2Lys) rs796052360
NM_017882.3(CLN6):c.506T>A (p.Leu169His) rs1344658850
NM_017882.3(CLN6):c.516TGA[1] (p.Asp173del) rs916824303
NM_017882.3(CLN6):c.542+5G>T rs786205066
NM_017882.3(CLN6):c.543-10C>A rs767297743
NM_017882.3(CLN6):c.551C>T (p.Pro184Leu)
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.559C>T (p.Leu187Phe) rs764670832
NM_017882.3(CLN6):c.563T>C (p.Ile188Thr) rs763059017
NM_017882.3(CLN6):c.565C>T (p.Leu189Phe)
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.602A>C (p.Lys201Thr) rs2141137255
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.625C>T (p.Pro209Ser) rs1064794559
NM_017882.3(CLN6):c.640G>A (p.Val214Met)
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.653G>A (p.Gly218Asp) rs1160988895
NM_017882.3(CLN6):c.653G>T (p.Gly218Val) rs1160988895
NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys) rs764571295
NM_017882.3(CLN6):c.667T>C (p.Tyr223His) rs2093194324
NM_017882.3(CLN6):c.66C>T (p.Ala22=) rs796052349
NM_017882.3(CLN6):c.683G>A (p.Gly228Asp)
NM_017882.3(CLN6):c.685C>G (p.Gln229Glu)
NM_017882.3(CLN6):c.68C>A (p.Ser23Tyr)
NM_017882.3(CLN6):c.696C>G (p.Ile232Met) rs2141136135
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.719C>T (p.Ala240Val) rs2093194119
NM_017882.3(CLN6):c.730C>G (p.Leu244Val) rs2093194059
NM_017882.3(CLN6):c.746A>C (p.Lys249Thr)
NM_017882.3(CLN6):c.757C>T (p.Leu253Phe) rs1274562752
NM_017882.3(CLN6):c.773A>G (p.Asn258Ser)
NM_017882.3(CLN6):c.783C>G (p.Phe261Leu)
NM_017882.3(CLN6):c.814C>G (p.Leu272Val)
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+15G>A
NM_017882.3(CLN6):c.83+6C>T
NM_017882.3(CLN6):c.838C>A (p.Leu280Met)
NM_017882.3(CLN6):c.849C>A (p.Asp283Glu) rs1239948245
NM_017882.3(CLN6):c.859A>T (p.Arg287Trp) rs2141135931
NM_017882.3(CLN6):c.864G>T (p.Lys288Asn)
NM_017882.3(CLN6):c.875G>C (p.Gly292Ala)
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_018941.4(CLN8):c.-125_-124+19dup rs1064793088
NM_018941.4(CLN8):c.112G>T (p.Val38Phe) rs370199508
NM_018941.4(CLN8):c.127C>T (p.His43Tyr) rs541840243
NM_018941.4(CLN8):c.15C>G (p.Ser5Arg) rs374597781
NM_018941.4(CLN8):c.160C>A (p.Arg54Ser)
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.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.209G>C (p.Arg70Pro) rs386834124
NM_018941.4(CLN8):c.20G>C (p.Gly7Ala)
NM_018941.4(CLN8):c.227A>C (p.Gln76Pro)
NM_018941.4(CLN8):c.229A>G (p.Ser77Gly)
NM_018941.4(CLN8):c.234A>G (p.Thr78=) rs1450867136
NM_018941.4(CLN8):c.236C>T (p.Ala79Val)
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.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.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.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.306G>C (p.Trp102Cys) rs1554449124
NM_018941.4(CLN8):c.312G>T (p.Trp104Cys) rs1554449136
NM_018941.4(CLN8):c.322A>G (p.Thr108Ala)
NM_018941.4(CLN8):c.331A>G (p.Thr111Ala) rs1563107925
NM_018941.4(CLN8):c.344G>C (p.Cys115Ser)
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.361G>A (p.Val121Ile) rs1223417396
NM_018941.4(CLN8):c.371C>A (p.Ser124Tyr) rs1198837795
NM_018941.4(CLN8):c.374A>T (p.Asn125Ile) rs142269885
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.385C>G (p.Arg129Gly)
NM_018941.4(CLN8):c.389C>T (p.Thr130Ile) rs1165037847
NM_018941.4(CLN8):c.392T>G (p.Phe131Cys) rs1404214432
NM_018941.4(CLN8):c.399G>T (p.Leu133Phe) rs948684101
NM_018941.4(CLN8):c.39T>G (p.Ile13Met) rs1801279215
NM_018941.4(CLN8):c.415C>T (p.His139Tyr) rs386834127
NM_018941.4(CLN8):c.427T>G (p.Phe143Val) rs2130992340
NM_018941.4(CLN8):c.446G>A (p.Cys149Tyr)
NM_018941.4(CLN8):c.452T>C (p.Val151Ala) rs752026391
NM_018941.4(CLN8):c.457C>G (p.Leu153Val)
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.485C>G (p.Thr162Ser) rs1554449289
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.512C>G (p.Pro171Arg) rs1184115888
NM_018941.4(CLN8):c.518C>T (p.Thr173Ile)
NM_018941.4(CLN8):c.523G>C (p.Val175Leu) rs768139689
NM_018941.4(CLN8):c.53A>G (p.Tyr18Cys) rs142104002
NM_018941.4(CLN8):c.543+5G>C
NM_018941.4(CLN8):c.544-2A>C
NM_018941.4(CLN8):c.544G>A (p.Ala182Thr)
NM_018941.4(CLN8):c.550T>G (p.Trp184Gly) rs1801670539
NM_018941.4(CLN8):c.560C>G (p.Ser187Cys) rs775174607
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>C (p.Lys191Asn)
NM_018941.4(CLN8):c.578A>G (p.Asn193Ser)
NM_018941.4(CLN8):c.579C>A (p.Asn193Lys)
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.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.613A>G (p.Met205Val)
NM_018941.4(CLN8):c.616G>T (p.Val206Phe) rs751249766
NM_018941.4(CLN8):c.630C>G (p.His210Gln)
NM_018941.4(CLN8):c.631A>T (p.Met211Leu)
NM_018941.4(CLN8):c.632T>C (p.Met211Thr)
NM_018941.4(CLN8):c.636G>C (p.Trp212Cys)
NM_018941.4(CLN8):c.639G>C (p.Trp213Cys)
NM_018941.4(CLN8):c.648C>T (p.Phe216=) rs564074916
NM_018941.4(CLN8):c.650G>C (p.Trp217Ser)
NM_018941.4(CLN8):c.667G>C (p.Val223Leu) rs1801676517
NM_018941.4(CLN8):c.682C>G (p.Leu228Val) rs1585151658
NM_018941.4(CLN8):c.686C>T (p.Pro229Leu)
NM_018941.4(CLN8):c.690T>G (p.His230Gln)
NM_018941.4(CLN8):c.694A>C (p.Thr232Pro)
NM_018941.4(CLN8):c.703C>T (p.Leu235Phe)
NM_018941.4(CLN8):c.706G>A (p.Val236Ile) rs371830719
NM_018941.4(CLN8):c.706G>C (p.Val236Leu)
NM_018941.4(CLN8):c.70C>T (p.Arg24Cys) rs104894064
NM_018941.4(CLN8):c.721C>G (p.Leu241Val) rs1554451594
NM_018941.4(CLN8):c.731T>C (p.Ile244Thr)
NM_018941.4(CLN8):c.732C>G (p.Ile244Met) rs747778614
NM_018941.4(CLN8):c.743A>G (p.Tyr248Cys)
NM_018941.4(CLN8):c.745T>C (p.Trp249Arg)
NM_018941.4(CLN8):c.763C>G (p.Gln255Glu) rs746397087
NM_018941.4(CLN8):c.76A>T (p.Thr26Ser)
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.781G>A (p.Val261Met) rs1482950665
NM_018941.4(CLN8):c.782T>C (p.Val261Ala)
NM_018941.4(CLN8):c.796G>T (p.Ala266Ser)
NM_018941.4(CLN8):c.797C>T (p.Ala266Val)
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.806A>G (p.Glu269Gly) rs139003032
NM_018941.4(CLN8):c.809C>T (p.Ala270Val) rs2129015316
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.835C>T (p.Gln279Ter)
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.859dup (p.Ter287LeuextTer?) rs2129015346
NM_018941.4(CLN8):c.85G>T (p.Val29Phe)
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.141C>A (p.Asn47Lys) rs1600885575
NM_025219.3(DNAJC5):c.147C>A (p.Asp49Glu)
NM_025219.3(DNAJC5):c.14G>A (p.Arg5Lys) rs1006274437
NM_025219.3(DNAJC5):c.193G>A (p.Ala65Thr) 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.301C>G (p.Leu101Val) rs2053643951
NM_025219.3(DNAJC5):c.319A>C (p.Lys107Gln) rs2053644044
NM_025219.3(DNAJC5):c.321+38_321+63dup
NM_025219.3(DNAJC5):c.322-3C>A rs777923854
NM_025219.3(DNAJC5):c.322-9T>A rs2146308196
NM_025219.3(DNAJC5):c.322G>T (p.Ala108Ser) rs1322303376
NM_025219.3(DNAJC5):c.334T>C (p.Phe112Leu)
NM_025219.3(DNAJC5):c.346C>T (p.Leu116Phe) rs2053663677
NM_025219.3(DNAJC5):c.400G>A (p.Gly134Arg)
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.448G>A (p.Val150Met) rs146719477
NM_025219.3(DNAJC5):c.479A>G (p.Gln160Arg)
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.500C>T (p.Thr167Ile)
NM_025219.3(DNAJC5):c.506C>T (p.Thr169Met) rs777119527
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.538G>A (p.Glu180Lys)
NM_025219.3(DNAJC5):c.563C>T (p.Ser188Phe)
NM_025219.3(DNAJC5):c.578A>G (p.His193Arg)
NM_025219.3(DNAJC5):c.586G>A (p.Gly196Arg) rs748741035
NM_025219.3(DNAJC5):c.587G>A (p.Gly196Glu)
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

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