ClinVar Miner

List of variants in gene CLN3 studied for Neuronal ceroid lipofuscinosis

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Gene type:
ClinVar version:
Total variants: 908
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HGVS dbSNP gnomAD frequency
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg) rs77595156 0.11421
NM_001042432.2(CLN3):c.771G>A (p.Glu257=) rs73533466 0.00402
NM_001042432.2(CLN3):c.313A>G (p.Ile105Val) rs11552531 0.00312
NM_001042432.2(CLN3):c.318C>T (p.Leu106=) rs148248159 0.00115
NM_001042432.2(CLN3):c.768C>T (p.Thr256=) rs145967477 0.00103
NM_001042432.2(CLN3):c.238A>T (p.Thr80Ser) rs150348015 0.00074
NM_001042432.2(CLN3):c.963-16C>G rs200023908 0.00051
NM_001042432.2(CLN3):c.831G>A (p.Val277=) rs1142183 0.00045
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=) rs201206239 0.00040
NM_001042432.2(CLN3):c.678-18C>A rs370158185 0.00031
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_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_001042432.2(CLN3):c.392G>A (p.Ser131Asn) rs144770450 0.00017
NM_001042432.2(CLN3):c.537C>T (p.Ala179=) rs147667964 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_001042432.2(CLN3):c.174C>T (p.Ala58=) rs138433617 0.00014
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_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_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_001042432.2(CLN3):c.1209G>A (p.Glu403=) rs377369610 0.00008
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 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_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_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_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_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_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_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.1247A>G (p.Asp416Gly) rs386833703 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
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_000016.9:g.(?_28484798)_28497560del
NC_000016.9:g.(?_28486664)_(28489218_?)dup
NC_000016.9:g.(?_28486664)_(28503100_?)dup
NC_000016.9:g.(?_28488599)_(28495440_28497667)del
NC_000016.9:g.(?_28488817)_(28489218_?)dup
NC_000016.9:g.(?_28488827)_(28489208_?)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
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.240del (p.Pro81fs) rs748710466
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.373del (p.Ser125fs) rs1596563048
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

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