ClinVar Miner

List of variants in gene CLN3

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1104
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001042432.2(CLN3):c.294+236A>G rs149282 0.98043
NM_001042432.2(CLN3):c.294+265A>T rs149281 0.93847
NM_001042432.2(CLN3):c.1057-148A>G rs34839 0.48008
NM_001042432.2(CLN3):c.295-229T>C rs34835 0.36719
NM_001042432.2(CLN3):c.1057-144C>T rs28374519 0.33844
NM_001042432.2(CLN3):c.678-313G>A rs151182 0.31813
NM_001042432.2(CLN3):c.294+253T>A rs149301 0.29597
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg) rs77595156 0.11421
NM_001042432.2(CLN3):c.-77+85G>A rs28612835 0.04930
NM_001042432.2(CLN3):c.46+63A>G rs28545628 0.04650
NM_001042432.2(CLN3):c.1056+140G>A rs143833407 0.02751
NC_000016.10:g.28492377T>C rs867543183 0.02499
NM_001042432.2(CLN3):c.295-59G>A rs79077329 0.02245
NM_001042432.2(CLN3):c.47-60C>G rs111404007 0.01636
NM_001042432.2(CLN3):c.678-336A>T rs142804308 0.01619
NM_001042432.2(CLN3):c.677+147C>G rs56695328 0.01496
NM_001042432.2(CLN3):c.1057-55C>T rs74016815 0.01495
NM_001042432.2(CLN3):c.294+286A>G rs141294620 0.01319
NM_001042432.2(CLN3):c.-105T>A rs73533476 0.01287
NM_001042432.2(CLN3):c.295-127C>T rs28452476 0.01175
NM_001042432.2(CLN3):c.126-211A>T rs148584815 0.01173
NM_001042432.2(CLN3):c.125+49A>G rs113317066 0.01075
NM_001042432.2(CLN3):c.294+265_294+266insT rs1161119178 0.00984
NM_001042432.2(CLN3):c.*155A>C rs113112766 0.00886
NM_001042432.2(CLN3):c.294+251A>T rs551219084 0.00868
NM_001042432.2(CLN3):c.677+201G>A rs149693277 0.00861
NM_001042432.2(CLN3):c.*99C>T rs113845299 0.00853
NM_001042432.2(CLN3):c.790+168C>T rs112746997 0.00853
NM_001042432.2(CLN3):c.1057-302A>G rs141326377 0.00852
NM_001042432.2(CLN3):c.791-112G>T rs111351669 0.00849
NM_001042432.2(CLN3):c.771G>A (p.Glu257=) rs73533466 0.00402
NM_001042432.2(CLN3):c.-129G>C rs141305257 0.00315
NM_001042432.2(CLN3):c.313A>G (p.Ile105Val) rs11552531 0.00312
NM_001042432.2(CLN3):c.838-35C>G rs146839771 0.00215
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_001042432.1(CLN3):c.-264C>G rs187163584 0.00096
NM_001042432.2(CLN3):c.238A>T (p.Thr80Ser) rs150348015 0.00074
NM_001042432.2(CLN3):c.*55C>A rs199979207 0.00065
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.-76-14G>A rs368542813 0.00044
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.*200A>G rs561135374 0.00014
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.-41C>A rs370217726 0.00010
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.*78G>A rs751235567 0.00009
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.*29A>G rs778438984 0.00004
NM_001042432.2(CLN3):c.-2C>G rs747169563 0.00004
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.-33C>A rs368494637 0.00003
NM_001042432.2(CLN3):c.-90T>C rs1362294732 0.00003
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.295-2A>C rs1478660606 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.*187G>A rs867117606 0.00002
NM_001042432.2(CLN3):c.-93T>G rs1050754043 0.00002
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.1056+8A>C rs991918245 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_001042432.1(CLN3):c.-364C>T rs1422231105 0.00001
NM_001042432.2(CLN3):c.*205G>A rs757923800 0.00001
NM_001042432.2(CLN3):c.*58A>C rs142958639 0.00001
NM_001042432.2(CLN3):c.-76-4G>T rs796052334 0.00001
NM_001042432.2(CLN3):c.1005T>C (p.Ser335=) rs1188156280 0.00001
NM_001042432.2(CLN3):c.1013G>A (p.Arg338His) rs557870972 0.00001
NM_001042432.2(CLN3):c.1017C>G (p.Cys339Trp) rs768479701 0.00001
NM_001042432.2(CLN3):c.1021C>T (p.Arg341Cys) rs775195638 0.00001
NM_001042432.2(CLN3):c.102T>C (p.His34=) rs774549218 0.00001
NM_001042432.2(CLN3):c.1033A>T (p.Thr345Ser) rs150986176 0.00001
NM_001042432.2(CLN3):c.1057-16C>T rs771215908 0.00001
NM_001042432.2(CLN3):c.1057-5C>T rs1266477971 0.00001
NM_001042432.2(CLN3):c.1066C>T (p.Leu356=) rs1222084100 0.00001
NM_001042432.2(CLN3):c.1074C>T (p.Phe358=) rs1275580991 0.00001
NM_001042432.2(CLN3):c.1078C>T (p.Leu360=) rs1232787477 0.00001
NM_001042432.2(CLN3):c.108G>A (p.Lys36=) rs761453819 0.00001
NM_001042432.2(CLN3):c.1132A>G (p.Ile378Val) rs147658282 0.00001
NM_001042432.2(CLN3):c.1152G>C (p.Leu384=) rs762171432 0.00001
NM_001042432.2(CLN3):c.1159G>A (p.Ala387Thr) rs768614719 0.00001
NM_001042432.2(CLN3):c.1179C>T (p.Phe393=) rs755948129 0.00001
NM_001042432.2(CLN3):c.1188C>T (p.Ile396=) rs926869261 0.00001
NM_001042432.2(CLN3):c.1191C>T (p.Ala397=) rs779338007 0.00001
NM_001042432.2(CLN3):c.1192C>G (p.Leu398Val) rs751114018 0.00001
NM_001042432.2(CLN3):c.1197+14G>A rs764711492 0.00001
NM_001042432.2(CLN3):c.1198-14C>G rs757911107 0.00001
NM_001042432.2(CLN3):c.1198-1G>T rs386833702 0.00001
NM_001042432.2(CLN3):c.1200C>T (p.Thr400=) rs754270222 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.1309C>T (p.Leu437Phe) rs1085307617 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.472G>C (p.Ala158Pro) rs386833723 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.941G>A (p.Ser314Asn) rs769358990 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
GRCh37/hg19 16p11.2(chr16:28497668-28497971)
GRCh37/hg19 16p11.2(chr16:28497668-28497971)x1
GRCh37/hg19 16p11.2(chr16:28497668-28497972)
GRCh37/hg19 16p11.2(chr16:28497795-28498122)x1
GRCh37/hg19 16p11.2(chr16:28497795-28498182)x1
GRCh38/hg38 16p12.1(chr16:28485965-28486930)x1
NC_000016.10:g.(28485964_28486930)del
NC_000016.10:g.(?_28475343)_(28477877_?)dup
NC_000016.10:g.(?_28475343)_(28484138_?)del
NC_000016.10:g.(?_28475343)_(28486650_?)del
NC_000016.10:g.(?_28477496)_(28491779_?)del
NC_000016.10:g.(?_28483996)_(28484128_?)del
NC_000016.10:g.(?_28485965)_(28486930_?)del
NC_000016.10:g.(?_28486327)_(28486670_?)del
NC_000016.10:g.(?_28486347)_(28486650_?)del
NC_000016.10:g.28492395_28492396dup rs764760757
NC_000016.10:g.28492396del rs764760757
NC_000016.10:g.28492396dup rs764760757
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
NG_008654.2:g.(13298_14630)_(15199_19425)del
NG_008654.2:g.(9848_10812)_(19800_19939)del
NM_000086.2(CLN3):c.(374+1_375-1)_(533+1_534-1)del
NM_001042432.1(CLN3):c.-210G>T rs2046326373
NM_001042432.1(CLN3):c.-218G>A rs886051874
NM_001042432.1(CLN3):c.-279G>C rs1232959828
NM_001042432.1(CLN3):c.-376_-371delTGAAGC rs72224211
NM_001042432.2(CLN3):c.*111G>T rs2046010035
NM_001042432.2(CLN3):c.-112C>T rs572212180
NM_001042432.2(CLN3):c.-17G>A rs770428655
NM_001042432.2(CLN3):c.-1G>T rs201274333
NM_001042432.2(CLN3):c.-3G>A
NM_001042432.2(CLN3):c.-77+12A>C rs1555469548
NM_001042432.2(CLN3):c.-77+14G>T rs886051873
NM_001042432.2(CLN3):c.-91C>G rs946396606
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.1004C>A (p.Ser335Tyr) rs765157752
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.1038G>A (p.Trp346Ter)
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.1055dup (p.Cys353fs)
NM_001042432.2(CLN3):c.1056+102dup rs371817940
NM_001042432.2(CLN3):c.1056+10C>G rs2141702486
NM_001042432.2(CLN3):c.1056+118del rs371817940
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>C (p.Gln352His) rs386833699
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.1057-22dup rs148146139
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.1067dup (p.Val357fs) rs1555467473
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.1116C>G (p.Tyr372Ter) rs142456044
NM_001042432.2(CLN3):c.1117C>G (p.Leu373Val) rs752700529
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.1127del (p.Leu376fs) rs2046022108
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.1168G>C (p.Val390Leu)
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.1195G>T (p.Glu399Ter) rs386833701
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+2T>A rs2046020472
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.1205A>G (p.Asp402Gly) rs1289559935
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.1213C>A (p.Arg405=) rs139842473
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+1del rs1555469452
NM_001042432.2(CLN3):c.125+2T>C
NM_001042432.2(CLN3):c.125+9C>A
NM_001042432.2(CLN3):c.125+9C>G rs770630584
NM_001042432.2(CLN3):c.1250C>T (p.Thr417Ile) rs1596619244
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.126-1G>A rs386833705
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.1268C>A (p.Ser423Ter) rs386833706
NM_001042432.2(CLN3):c.126G>A (p.Trp42Ter)
NM_001042432.2(CLN3):c.1272G>A (p.Gly424=) rs2141693473
NM_001042432.2(CLN3):c.1272del (p.Leu425fs) rs386833707
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.17del (p.Gly6fs) rs886043242
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.195dup (p.Lys66fs) rs1555469159
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+2T>G rs386833710
NM_001042432.2(CLN3):c.222+3A>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.223-1G>A rs1555469089
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.250del (p.His84fs)
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>A (p.Cys92Ter)
NM_001042432.2(CLN3):c.276C>G (p.Cys92Trp)
NM_001042432.2(CLN3):c.278A>G (p.Asn93Ser) rs140409296
NM_001042432.2(CLN3):c.281_282del (p.Ser94fs) rs1057517215
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+266_294+267del rs367752281
NM_001042432.2(CLN3):c.294+4C>T
NM_001042432.2(CLN3):c.294+5G>T rs780921389
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.2T>C (p.Met1Thr) rs777625354
NM_001042432.2(CLN3):c.302T>C (p.Leu101Pro) rs386833714
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.317T>A (p.Leu106His) rs2046245840
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.354_355insG (p.Leu119fs)
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>A (p.His120Gln)
NM_001042432.2(CLN3):c.360C>T (p.His120=)
NM_001042432.2(CLN3):c.362T>G (p.Leu121Arg) rs2046244488
NM_001042432.2(CLN3):c.363dup (p.Leu122fs)
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.370del (p.Tyr124fs) rs1555468920
NM_001042432.2(CLN3):c.370dup (p.Tyr124fs) rs386833715
NM_001042432.2(CLN3):c.371_372insT (p.Ser125fs) rs587779397
NM_001042432.2(CLN3):c.372C>G (p.Tyr124Ter)
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.375-2del
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.377C>T (p.Pro126Leu) rs2141714590
NM_001042432.2(CLN3):c.378C>T (p.Pro126=) rs1596562865
NM_001042432.2(CLN3):c.378_379dup (p.Arg127fs) rs386833717
NM_001042432.2(CLN3):c.379del (p.Arg127fs) rs386833717
NM_001042432.2(CLN3):c.379dup (p.Arg127fs)
NM_001042432.2(CLN3):c.37G>T (p.Asp13Tyr)
NM_001042432.2(CLN3):c.382dup (p.Val128fs) rs2141714554
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.419del (p.Val140fs)
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.452G>A (p.Ser151Asn)
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+1G>C 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+376_677+388del
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.461-13G>C rs386833721
NM_001042432.2(CLN3):c.461-19G>C
NM_001042432.2(CLN3):c.461-1G>A rs386833722
NM_001042432.2(CLN3):c.461-1G>C rs386833722
NM_001042432.2(CLN3):c.461-279_677+384del rs1555468632
NM_001042432.2(CLN3):c.461-280_677+382del rs1555468634
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.467del (p.Val156fs)
NM_001042432.2(CLN3):c.47-2A>T
NM_001042432.2(CLN3):c.47-2del
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.476G>C (p.Ser159Thr)
NM_001042432.2(CLN3):c.482C>G (p.Ser161Ter) rs386833724
NM_001042432.2(CLN3):c.482C>T (p.Ser161Leu) rs386833724
NM_001042432.2(CLN3):c.483A>G (p.Ser161=)
NM_001042432.2(CLN3):c.485C>G (p.Ser162Ter) rs386833725
NM_001042432.2(CLN3):c.490C>G (p.Leu164Val)
NM_001042432.2(CLN3):c.492T>C (p.Leu164=)
NM_001042432.2(CLN3):c.494G>A (p.Gly165Glu) rs786201028
NM_001042432.2(CLN3):c.497A>G (p.Glu166Gly) rs2141712916
NM_001042432.2(CLN3):c.49G>T (p.Glu17Ter) rs386833726
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.509T>C (p.Leu170Pro) rs386833727
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>A (p.Tyr176Ter)
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>A rs386833728
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.534-18C>T rs1310342698
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.534G>C (p.Arg178Ser) rs756640405
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.545C>G (p.Ser182Cys) rs2141712549
NM_001042432.2(CLN3):c.54G>T (p.Glu18Asp) rs2141722130
NM_001042432.2(CLN3):c.550T>C (p.Trp184Arg) rs2046221058
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.555del (p.Ser186fs)
NM_001042432.2(CLN3):c.558_559del (p.Gly187fs) rs386833729
NM_001042432.2(CLN3):c.560G>A (p.Gly187Glu)
NM_001042432.2(CLN3):c.560G>C (p.Gly187Ala) rs386833730
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.565G>T (p.Gly189Trp) rs386833731
NM_001042432.2(CLN3):c.569del (p.Gly190fs) rs386833732
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.586G>T (p.Ala196Ser) rs796052339
NM_001042432.2(CLN3):c.586dup (p.Ala196fs) rs386833735
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.610C>T (p.Gln204Ter)
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+1G>T rs1057517287
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.678-1_680del
NM_001042432.2(CLN3):c.678-2A>G rs2046162412
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.683dup (p.Leu230fs) rs1057516335
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.722G>A (p.Gly241Glu)
NM_001042432.2(CLN3):c.723G>T (p.Gly241=) rs2141707009
NM_001042432.2(CLN3):c.725AAG[2] (p.Glu244del) rs796052340
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.750del (p.Gln251fs) rs1064796502
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.764G>A (p.Arg255Lys) rs1064795604
NM_001042432.2(CLN3):c.767C>T (p.Thr256Ile) rs1064796298
NM_001042432.2(CLN3):c.768C>G (p.Thr256=) rs145967477
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+267dup rs755660742
NM_001042432.2(CLN3):c.790+281_790+292del rs755660742
NM_001042432.2(CLN3):c.790+288_790+292del rs755660742
NM_001042432.2(CLN3):c.790+292del rs755660742
NM_001042432.2(CLN3):c.790+2T>C rs1397197980
NM_001042432.2(CLN3):c.790+3A>C rs386833738
NM_001042432.2(CLN3):c.790+532_1056+1445del
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>C (p.Gly264Arg) rs2046156366
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.791-1G>A rs1057517350
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.791-6C>T rs1057523421
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.816_817del (p.Glu273fs) rs886041546
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.838-3C>G
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.849G>A (p.Trp283Ter)
NM_001042432.2(CLN3):c.849G>T (p.Trp283Cys) rs1064795226
NM_001042432.2(CLN3):c.849del (p.Trp283fs)
NM_001042432.2(CLN3):c.852C>G (p.Tyr284Ter)
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>A (p.Val290Ile) rs369008702
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.899del (p.Gln300fs) rs1596556924
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+5G>A rs386833739
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.907-19del rs749233275
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.910G>T (p.Glu304Ter)
NM_001042432.2(CLN3):c.913CTC[1] (p.Leu306del) rs2046113354
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.917T>A (p.Leu306His)
NM_001042432.2(CLN3):c.918C>G (p.Leu306=)
NM_001042432.2(CLN3):c.922_923del (p.Phe308fs) rs2046113301
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.937del (p.Ser312_Leu313insTer)
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.950A>G (p.Gln317Arg) rs1215782261
NM_001042432.2(CLN3):c.954A>T (p.Gln318His) rs2141703284
NM_001042432.2(CLN3):c.954_962+18del rs386833741
NM_001042432.2(CLN3):c.954dup (p.Tyr319fs)
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+1G>A rs1057516267
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.962G>A (p.Trp321Ter) rs2046112247
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.963-1G>T rs386833742
NM_001042432.2(CLN3):c.963-20C>T
NM_001042432.2(CLN3):c.963-2A>C rs1418997146
NM_001042432.2(CLN3):c.963-2A>G rs1418997146
NM_001042432.2(CLN3):c.963-5C>A
NM_001042432.2(CLN3):c.963-63_963-44dup rs1555468153
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.964T>C (p.Tyr322His) rs2141702890
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.976T>C (p.Tyr326His) rs796052337
NM_001042432.2(CLN3):c.979C>T (p.Gln327Ter) rs386833743
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
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.