ClinVar Miner

List of variants in gene CLN6 studied for cerebral lipidosis with dementia

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 671
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HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.198+104T>C rs8025947 0.57324
NM_017882.3(CLN6):c.*817C>T rs8142 0.51081
NM_017882.3(CLN6):c.*42T>G rs754655363 0.14249
NM_017882.3(CLN6):c.*1015T>C rs6494720 0.07280
NM_017882.3(CLN6):c.*690A>G rs8033190 0.07262
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_017882.3(CLN6):c.*667G>A rs111879561 0.00596
NM_017882.3(CLN6):c.*646C>G rs144976448 0.00573
NM_017882.3(CLN6):c.298-6C>T rs117038427 0.00549
NM_017882.3(CLN6):c.*393G>A rs114833125 0.00546
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143 0.00475
NM_017882.3(CLN6):c.*75G>C rs57058289 0.00367
NM_017882.3(CLN6):c.*934G>T rs114551417 0.00341
NM_017882.3(CLN6):c.*655C>T rs571329883 0.00316
NM_017882.3(CLN6):c.840G>A (p.Leu280=) rs148949069 0.00198
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698 0.00169
NM_017882.3(CLN6):c.339G>A (p.Thr113=) rs146135801 0.00141
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483 0.00140
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) rs547125345 0.00120
NM_017882.3(CLN6):c.270C>T (p.Asn90=) rs145247814 0.00104
NM_017882.3(CLN6):c.*1103G>A rs147362516 0.00101
NM_017882.3(CLN6):c.*312C>T rs747144655 0.00060
NM_017882.3(CLN6):c.487-15C>T rs200775021 0.00049
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088 0.00042
NM_017882.3(CLN6):c.*131G>T rs556392570 0.00041
NM_017882.3(CLN6):c.822G>A (p.Ala274=) rs151186473 0.00041
NM_017882.3(CLN6):c.*882C>T rs766413849 0.00039
NM_017882.3(CLN6):c.-38C>T rs756496671 0.00036
NM_017882.3(CLN6):c.42C>A (p.Gly14=) rs373776911 0.00036
NM_017882.3(CLN6):c.*284C>T rs536039114 0.00026
NM_017882.3(CLN6):c.100G>A (p.Ala34Thr) rs146198681 0.00022
NM_017882.3(CLN6):c.84-18C>T rs201554701 0.00022
NM_017882.3(CLN6):c.282C>A (p.Pro94=) rs139261571 0.00021
NM_017882.3(CLN6):c.741C>T (p.His247=) rs140653271 0.00020
NM_017882.3(CLN6):c.487-8T>C rs202046680 0.00019
NM_017882.3(CLN6):c.*246G>A rs886051441 0.00013
NM_017882.3(CLN6):c.*69G>T rs761969677 0.00013
NM_017882.3(CLN6):c.477G>A (p.Pro159=) rs370811678 0.00013
NM_017882.3(CLN6):c.*1023G>A rs760989550 0.00012
NM_017882.3(CLN6):c.*991C>A rs537819492 0.00011
NM_017882.3(CLN6):c.41G>A (p.Gly14Asp) rs994590268 0.00011
NM_017882.3(CLN6):c.585C>T (p.Gly195=) rs144507672 0.00011
NM_017882.3(CLN6):c.136G>A (p.Asp46Asn) rs147623032 0.00010
NM_017882.3(CLN6):c.*1109G>A rs560713030 0.00009
NM_017882.3(CLN6):c.298-15C>T rs368661456 0.00009
NM_017882.3(CLN6):c.*470C>T rs565006193 0.00008
NM_017882.3(CLN6):c.*481T>G rs746416658 0.00008
NM_017882.3(CLN6):c.798C>T (p.Phe266=) rs140319056 0.00008
NM_017882.3(CLN6):c.*175C>T rs886051444 0.00007
NM_017882.3(CLN6):c.*179G>C rs886051443 0.00006
NM_017882.3(CLN6):c.11C>T (p.Thr4Met) rs1017662486 0.00006
NM_017882.3(CLN6):c.199-5C>T rs371705916 0.00006
NM_017882.3(CLN6):c.213C>T (p.Leu71=) rs146980624 0.00006
NM_017882.3(CLN6):c.271G>A (p.Val91Ile) rs140519790 0.00006
NM_017882.3(CLN6):c.278C>T (p.Thr93Met) rs150001589 0.00006
NM_017882.3(CLN6):c.297+113G>C rs553192210 0.00006
NM_017882.3(CLN6):c.316C>T (p.Arg106Cys) rs202226970 0.00006
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys) rs747229909 0.00006
NM_017882.3(CLN6):c.597C>G (p.Ala199=) rs368546281 0.00006
NM_017882.3(CLN6):c.637C>T (p.Leu213=) rs750548623 0.00006
NM_017882.3(CLN6):c.728C>T (p.Ala243Val) rs767164948 0.00006
NM_017882.3(CLN6):c.799G>A (p.Ala267Thr) rs374613712 0.00006
NM_017882.3(CLN6):c.15G>A (p.Arg5=) rs1008565735 0.00005
NM_017882.3(CLN6):c.204A>G (p.Val68=) rs774960579 0.00005
NM_017882.3(CLN6):c.279G>A (p.Thr93=) rs746613593 0.00005
NM_017882.3(CLN6):c.678C>T (p.Thr226=) rs374744816 0.00005
NM_017882.3(CLN6):c.72C>T (p.Phe24=) rs767394326 0.00005
NM_017882.3(CLN6):c.749G>A (p.Arg250His) rs554594996 0.00005
NM_017882.3(CLN6):c.832G>A (p.Ala278Thr) rs143728911 0.00005
NM_017882.3(CLN6):c.-101A>G rs555985698 0.00004
NM_017882.3(CLN6):c.103G>A (p.Asp35Asn) rs533231370 0.00004
NM_017882.3(CLN6):c.259A>G (p.Met87Val) rs532180601 0.00004
NM_017882.3(CLN6):c.328C>T (p.Arg110Cys) rs143928329 0.00004
NM_017882.3(CLN6):c.487-13G>A rs747926816 0.00004
NM_017882.3(CLN6):c.487-20C>T rs772189210 0.00004
NM_017882.3(CLN6):c.564C>A (p.Ile188=) rs371326037 0.00004
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu) rs587780316 0.00004
NM_017882.3(CLN6):c.754C>T (p.Arg252Cys) rs145746878 0.00004
NM_017882.3(CLN6):c.755G>A (p.Arg252His) rs374681194 0.00004
NM_017882.3(CLN6):c.-92C>T rs942971560 0.00003
NM_017882.3(CLN6):c.120G>A (p.Thr40=) rs1034192926 0.00003
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp) rs886285802 0.00003
NM_017882.3(CLN6):c.157C>T (p.Leu53=) rs1172062931 0.00003
NM_017882.3(CLN6):c.329G>A (p.Arg110His) rs140179213 0.00003
NM_017882.3(CLN6):c.338C>T (p.Thr113Met) rs758830997 0.00003
NM_017882.3(CLN6):c.36G>A (p.Ala12=) rs1048000119 0.00003
NM_017882.3(CLN6):c.446G>A (p.Arg149His) rs154774638 0.00003
NM_017882.3(CLN6):c.534C>T (p.His178=) rs763901402 0.00003
NM_017882.3(CLN6):c.583G>A (p.Gly195Ser) rs747575187 0.00003
NM_017882.3(CLN6):c.634C>T (p.Leu212Phe) rs751562146 0.00003
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295 0.00003
NM_017882.3(CLN6):c.821C>T (p.Ala274Val) rs202012876 0.00003
NM_017882.3(CLN6):c.831C>T (p.Val277=) rs753344266 0.00003
NM_017882.3(CLN6):c.870C>T (p.Tyr290=) rs774291260 0.00003
NM_017882.3(CLN6):c.872C>T (p.Pro291Leu) rs373652272 0.00003
NM_017882.3(CLN6):c.924C>T (p.Ser308=) rs774237925 0.00003
NM_017882.3(CLN6):c.*725C>T rs369225795 0.00002
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) rs154774640 0.00002
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634 0.00002
NM_017882.3(CLN6):c.343G>A (p.Val115Met) rs762232673 0.00002
NM_017882.3(CLN6):c.423C>T (p.Gly141=) rs1484448524 0.00002
NM_017882.3(CLN6):c.43G>T (p.Gly15Cys) rs1057524348 0.00002
NM_017882.3(CLN6):c.482C>T (p.Thr161Met) rs757734645 0.00002
NM_017882.3(CLN6):c.489C>T (p.Ile163=) rs748682605 0.00002
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821 0.00002
NM_017882.3(CLN6):c.582C>T (p.Ser194=) rs769007090 0.00002
NM_017882.3(CLN6):c.666-3C>T rs761161043 0.00002
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser) rs150363441 0.00002
NM_017882.3(CLN6):c.84-8C>T rs756782429 0.00002
NM_017882.3(CLN6):c.84-9C>T rs778471506 0.00002
NM_017882.3(CLN6):c.894G>A (p.Glu298=) rs780421624 0.00002
NM_017882.3(CLN6):c.912C>T (p.Thr304=) rs201330867 0.00002
NM_017882.3(CLN6):c.929G>A (p.Arg310Gln) rs769900670 0.00002
NM_017882.3(CLN6):c.94G>C (p.Val32Leu) rs369041224 0.00002
NM_017882.3(CLN6):c.99C>T (p.Ser33=) rs752449801 0.00002
NM_017882.3(CLN6):c.*300C>T rs886051439 0.00001
NM_017882.3(CLN6):c.*446C>T rs1249079296 0.00001
NM_017882.3(CLN6):c.*532T>A rs886051437 0.00001
NM_017882.3(CLN6):c.*749T>C rs1189755650 0.00001
NM_017882.3(CLN6):c.-22C>A rs886051448 0.00001
NM_017882.3(CLN6):c.114C>G (p.Ala38=) rs1219136331 0.00001
NM_017882.3(CLN6):c.133C>T (p.Leu45Phe) rs964241858 0.00001
NM_017882.3(CLN6):c.159G>A (p.Leu53=) rs377148534 0.00001
NM_017882.3(CLN6):c.16A>C (p.Arg6=) rs1468764503 0.00001
NM_017882.3(CLN6):c.180T>C (p.Phe60=) rs1183583039 0.00001
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys) rs1451777867 0.00001
NM_017882.3(CLN6):c.199-18C>A rs764354435 0.00001
NM_017882.3(CLN6):c.199-2A>G rs1471253353 0.00001
NM_017882.3(CLN6):c.199-4G>A rs767945732 0.00001
NM_017882.3(CLN6):c.199C>G (p.Leu67Val) rs759935979 0.00001
NM_017882.3(CLN6):c.205T>C (p.Phe69Leu) rs1418418672 0.00001
NM_017882.3(CLN6):c.221T>G (p.Phe74Cys) rs199658226 0.00001
NM_017882.3(CLN6):c.228C>T (p.Leu76=) rs1306692606 0.00001
NM_017882.3(CLN6):c.240T>C (p.Ser80=) rs1395492951 0.00001
NM_017882.3(CLN6):c.255C>G (p.Phe85Leu) rs545955828 0.00001
NM_017882.3(CLN6):c.285T>A (p.Phe95Leu) rs796052350 0.00001
NM_017882.3(CLN6):c.296A>G (p.Lys99Arg) rs146782642 0.00001
NM_017882.3(CLN6):c.301A>G (p.Ile101Val) rs774238261 0.00001
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys) rs796052352 0.00001
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp) rs201095412 0.00001
NM_017882.3(CLN6):c.311C>A (p.Ser104Tyr) rs777921628 0.00001
NM_017882.3(CLN6):c.317G>A (p.Arg106His) rs781133812 0.00001
NM_017882.3(CLN6):c.318C>T (p.Arg106=) rs2093206613 0.00001
NM_017882.3(CLN6):c.322C>G (p.Leu108Val) rs796052353 0.00001
NM_017882.3(CLN6):c.331T>C (p.Ser111Pro) rs1217014085 0.00001
NM_017882.3(CLN6):c.340T>C (p.Tyr114His) rs1211135399 0.00001
NM_017882.3(CLN6):c.345G>A (p.Val115=) rs2093206410 0.00001
NM_017882.3(CLN6):c.346A>G (p.Ser116Gly) rs2093206402 0.00001
NM_017882.3(CLN6):c.348C>T (p.Ser116=) rs1231500700 0.00001
NM_017882.3(CLN6):c.350T>G (p.Ile117Ser) rs752212030 0.00001
NM_017882.3(CLN6):c.355A>G (p.Ile119Val) rs759241838 0.00001
NM_017882.3(CLN6):c.358T>A (p.Phe120Ile) rs1433821186 0.00001
NM_017882.3(CLN6):c.396T>C (p.Ser132=) rs949403836 0.00001
NM_017882.3(CLN6):c.407G>A (p.Arg136His) rs769701646 0.00001
NM_017882.3(CLN6):c.409C>T (p.Leu137=) rs982789458 0.00001
NM_017882.3(CLN6):c.486+1G>A rs756522171 0.00001
NM_017882.3(CLN6):c.487-14C>T rs371794062 0.00001
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys) rs750081097 0.00001
NM_017882.3(CLN6):c.516T>C (p.Tyr172=) rs547002745 0.00001
NM_017882.3(CLN6):c.51C>G (p.Gly17=) rs944411833 0.00001
NM_017882.3(CLN6):c.522G>A (p.Glu174=) rs753538013 0.00001
NM_017882.3(CLN6):c.543-10C>T rs767297743 0.00001
NM_017882.3(CLN6):c.543-9C>T rs374653673 0.00001
NM_017882.3(CLN6):c.547A>G (p.Ile183Val) rs766500060 0.00001
NM_017882.3(CLN6):c.549C>T (p.Ile183=) rs1384262878 0.00001
NM_017882.3(CLN6):c.558C>T (p.Phe186=) rs1305810285 0.00001
NM_017882.3(CLN6):c.581G>T (p.Ser194Ile) rs777142645 0.00001
NM_017882.3(CLN6):c.58C>T (p.Leu20=) rs886042533 0.00001
NM_017882.3(CLN6):c.593C>G (p.Thr198Ser) rs777459938 0.00001
NM_017882.3(CLN6):c.599C>G (p.Ser200Cys) rs796052357 0.00001
NM_017882.3(CLN6):c.60G>A (p.Leu20=) rs1287378775 0.00001
NM_017882.3(CLN6):c.61G>A (p.Gly21Ser) rs916017530 0.00001
NM_017882.3(CLN6):c.63C>T (p.Gly21=) rs796052348 0.00001
NM_017882.3(CLN6):c.663C>T (p.Tyr221=) rs104894486 0.00001
NM_017882.3(CLN6):c.666-14C>T rs764363598 0.00001
NM_017882.3(CLN6):c.666-5T>A rs1401270931 0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722 0.00001
NM_017882.3(CLN6):c.704T>A (p.Ile235Asn) rs1469917052 0.00001
NM_017882.3(CLN6):c.714C>T (p.Phe238=) rs772090270 0.00001
NM_017882.3(CLN6):c.718G>A (p.Ala240Thr) rs779105796 0.00001
NM_017882.3(CLN6):c.732C>T (p.Leu244=) rs540227628 0.00001
NM_017882.3(CLN6):c.748C>T (p.Arg250Cys) rs950362413 0.00001
NM_017882.3(CLN6):c.750C>T (p.Arg250=) rs537994561 0.00001
NM_017882.3(CLN6):c.757C>G (p.Leu253Val) rs1274562752 0.00001
NM_017882.3(CLN6):c.763C>T (p.Leu255=) rs1195840845 0.00001
NM_017882.3(CLN6):c.767A>G (p.Asp256Gly) rs143781303 0.00001
NM_017882.3(CLN6):c.768C>G (p.Asp256Glu) rs760271120 0.00001
NM_017882.3(CLN6):c.794C>T (p.Ser265Phe) rs771007065 0.00001
NM_017882.3(CLN6):c.801A>G (p.Ala267=) rs901756486 0.00001
NM_017882.3(CLN6):c.810C>G (p.Leu270=) rs183399390 0.00001
NM_017882.3(CLN6):c.83+10C>T rs1247368646 0.00001
NM_017882.3(CLN6):c.83+13C>T rs938706029 0.00001
NM_017882.3(CLN6):c.837G>A (p.Trp279Ter) rs1555438212 0.00001
NM_017882.3(CLN6):c.83G>A (p.Arg28Lys) rs1381427322 0.00001
NM_017882.3(CLN6):c.84-1G>A rs1064796787 0.00001
NM_017882.3(CLN6):c.850C>T (p.Pro284Ser) rs369715206 0.00001
NM_017882.3(CLN6):c.885C>T (p.Tyr295=) rs374990526 0.00001
NM_017882.3(CLN6):c.886G>A (p.Val296Ile) rs781449103 0.00001
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu) rs758921701 0.00001
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg) rs750937323 0.00001
NM_017882.3(CLN6):c.90C>T (p.Gly30=) rs1254460869 0.00001
NM_017882.3(CLN6):c.918C>T (p.His306=) rs1347398610 0.00001
NM_017882.3(CLN6):c.93T>C (p.Ser31=) rs376510900 0.00001
NC_000015.10:g.(?_68208120)_(68229604_?)del
NC_000015.10:g.(?_68229482)_(68229604_?)del
NC_000015.10:g.(?_68229492)_(68229594_?)del
NC_000015.9:g.(?_68499209)_(68500605_?)del
NC_000015.9:g.(?_68500458)_(68504221_?)del
NC_000015.9:g.(?_68500468)_(68504211_?)del
NC_000015.9:g.(?_68500478)_(68521922_?)dup
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_017882.2(CLN6):c.[460_462delATC];[829_837delGTCGCCTGG]
NM_017882.3(CLN6):c.*224T>C rs886051442
NM_017882.3(CLN6):c.*264T>C rs886051440
NM_017882.3(CLN6):c.*345C>T rs2093191394
NM_017882.3(CLN6):c.*526A>G rs886051438
NM_017882.3(CLN6):c.*887G>T rs886051436
NM_017882.3(CLN6):c.*88G>A rs886051446
NM_017882.3(CLN6):c.-108G>C rs865972073
NM_017882.3(CLN6):c.105T>C (p.Asp35=)
NM_017882.3(CLN6):c.108G>T (p.Glu36Asp) rs1226528243
NM_017882.3(CLN6):c.112G>T (p.Ala38Ser)
NM_017882.3(CLN6):c.114C>T (p.Ala38=) rs1219136331
NM_017882.3(CLN6):c.115C>G (p.Arg39Gly) rs142260866
NM_017882.3(CLN6):c.115C>T (p.Arg39Cys) rs142260866
NM_017882.3(CLN6):c.116G>A (p.Arg39His) rs779456928
NM_017882.3(CLN6):c.117C>A (p.Arg39=)
NM_017882.3(CLN6):c.119C>A (p.Thr40Lys) rs769199442
NM_017882.3(CLN6):c.119C>T (p.Thr40Met) rs769199442
NM_017882.3(CLN6):c.121del (p.Ala41fs) rs2141145116
NM_017882.3(CLN6):c.123T>A (p.Ala41=) rs2141145111
NM_017882.3(CLN6):c.124C>G (p.Pro42Ala) rs1003606439
NM_017882.3(CLN6):c.124C>T (p.Pro42Ser) rs1003606439
NM_017882.3(CLN6):c.12G>A (p.Thr4=)
NM_017882.3(CLN6):c.132C>T (p.His44=)
NM_017882.3(CLN6):c.135C>A (p.Leu45=)
NM_017882.3(CLN6):c.135C>T (p.Leu45=) rs374577694
NM_017882.3(CLN6):c.138C>T (p.Asp46=) rs1595821372
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe) rs154774635
NM_017882.3(CLN6):c.13C>A (p.Arg5=) rs886285802
NM_017882.3(CLN6):c.141C>T (p.Leu47=)
NM_017882.3(CLN6):c.146T>A (p.Phe49Tyr)
NM_017882.3(CLN6):c.149_150insATCCT (p.Tyr50Ter) rs2141145071
NM_017882.3(CLN6):c.14G>A (p.Arg5Gln) rs2093262797
NM_017882.3(CLN6):c.158T>G (p.Leu53Arg)
NM_017882.3(CLN6):c.161A>G (p.Gln54Arg) rs2093226926
NM_017882.3(CLN6):c.163A>T (p.Asn55Tyr)
NM_017882.3(CLN6):c.168G>A (p.Trp56Ter)
NM_017882.3(CLN6):c.17G>C (p.Arg6Thr) rs154774636
NM_017882.3(CLN6):c.180_181del (p.Phe60fs)
NM_017882.3(CLN6):c.180dup (p.Gly61fs)
NM_017882.3(CLN6):c.183del (p.Arg62fs)
NM_017882.3(CLN6):c.185G>A (p.Arg62His) rs751486476
NM_017882.3(CLN6):c.190A>G (p.Ile64Val)
NM_017882.3(CLN6):c.195C>A (p.Ala65=)
NM_017882.3(CLN6):c.195C>T (p.Ala65=) rs1472031434
NM_017882.3(CLN6):c.195dup (p.Met66fs)
NM_017882.3(CLN6):c.196A>G (p.Met66Val) rs1430705796
NM_017882.3(CLN6):c.196dup (p.Met66fs) rs2141145023
NM_017882.3(CLN6):c.198+11A>C
NM_017882.3(CLN6):c.198+12A>G
NM_017882.3(CLN6):c.198+17G>A
NM_017882.3(CLN6):c.198+19A>C
NM_017882.3(CLN6):c.198+20C>T
NM_017882.3(CLN6):c.198+3G>C
NM_017882.3(CLN6):c.198+5G>A
NM_017882.3(CLN6):c.199-12T>C
NM_017882.3(CLN6):c.199-12T>G
NM_017882.3(CLN6):c.199-13A>G
NM_017882.3(CLN6):c.199-14C>A
NM_017882.3(CLN6):c.199-14C>T
NM_017882.3(CLN6):c.199-14del
NM_017882.3(CLN6):c.199-16T>A
NM_017882.3(CLN6):c.199-19dup rs1567096664
NM_017882.3(CLN6):c.199-6C>G
NM_017882.3(CLN6):c.199-6C>T
NM_017882.3(CLN6):c.199-7T>C
NM_017882.3(CLN6):c.1A>C (p.Met1Leu)
NM_017882.3(CLN6):c.1A>G (p.Met1Val) rs1555440206
NM_017882.3(CLN6):c.200T>C (p.Leu67Pro) rs154774633
NM_017882.3(CLN6):c.202G>C (p.Val68Leu)
NM_017882.3(CLN6):c.204A>T (p.Val68=)
NM_017882.3(CLN6):c.207C>T (p.Phe69=) rs2093214789
NM_017882.3(CLN6):c.212T>G (p.Leu71Arg) rs1450871754
NM_017882.3(CLN6):c.213C>G (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.214G>A (p.Glu72Lys) rs104894483
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017882.3(CLN6):c.216G>A (p.Glu72=)
NM_017882.3(CLN6):c.218G>A (p.Trp73Ter) rs2093214695
NM_017882.3(CLN6):c.218_220dup (p.Trp73dup) rs2141141533
NM_017882.3(CLN6):c.219G>A (p.Trp73Ter)
NM_017882.3(CLN6):c.21G>A (p.Arg7=) rs2093262736
NM_017882.3(CLN6):c.224C>T (p.Pro75Leu) rs1595819607
NM_017882.3(CLN6):c.225A>C (p.Pro75=)
NM_017882.3(CLN6):c.225A>G (p.Pro75=) rs544291935
NM_017882.3(CLN6):c.230A>C (p.Asn77Thr) rs776974644
NM_017882.3(CLN6):c.247dup (p.Asp83fs)
NM_017882.3(CLN6):c.24G>A (p.Gln8=)
NM_017882.3(CLN6):c.250T>A (p.Tyr84Asn) rs1567096598
NM_017882.3(CLN6):c.252C>T (p.Tyr84=) rs2141141480
NM_017882.3(CLN6):c.255C>T (p.Phe85=)
NM_017882.3(CLN6):c.266_267insAATCCTA (p.Tyr89Ter)
NM_017882.3(CLN6):c.268A>G (p.Asn90Asp) rs2093214490
NM_017882.3(CLN6):c.268_271dup (p.Val91fs) rs786205067
NM_017882.3(CLN6):c.269A>T (p.Asn90Ile) rs2141141464
NM_017882.3(CLN6):c.270C>A (p.Asn90Lys)
NM_017882.3(CLN6):c.276C>G (p.Ile92Met)
NM_017882.3(CLN6):c.278C>A (p.Thr93Lys)
NM_017882.3(CLN6):c.27C>T (p.His9=) rs2141156267
NM_017882.3(CLN6):c.284T>C (p.Phe95Ser)
NM_017882.3(CLN6):c.288C>G (p.Leu96=) rs2141141422
NM_017882.3(CLN6):c.288C>T (p.Leu96=)
NM_017882.3(CLN6):c.289_290dup (p.Leu97fs) rs2141141420
NM_017882.3(CLN6):c.28C>G (p.Leu10Val) rs1457277891
NM_017882.3(CLN6):c.28C>T (p.Leu10=) rs1457277891
NM_017882.3(CLN6):c.291G>A (p.Leu97=)
NM_017882.3(CLN6):c.294C>G (p.Leu98=) rs2141141419
NM_017882.3(CLN6):c.297+17C>T
NM_017882.3(CLN6):c.297+18C>G
NM_017882.3(CLN6):c.297+19del rs61224699
NM_017882.3(CLN6):c.297+1G>A rs796052351
NM_017882.3(CLN6):c.297+4C>T rs1030759897
NM_017882.3(CLN6):c.297+9C>T rs1258135795
NM_017882.3(CLN6):c.297G>C (p.Lys99Asn)
NM_017882.3(CLN6):c.297G>T (p.Lys99Asn)
NM_017882.3(CLN6):c.298-13C>T
NM_017882.3(CLN6):c.298-14A>T
NM_017882.3(CLN6):c.298-16C>A
NM_017882.3(CLN6):c.298-17C>G
NM_017882.3(CLN6):c.298-1G>C rs1595818391
NM_017882.3(CLN6):c.298-20A>C
NM_017882.3(CLN6):c.298-3del rs1567095944
NM_017882.3(CLN6):c.298-8A>T rs2141139490
NM_017882.3(CLN6):c.299T>G (p.Leu100Arg) rs1555438702
NM_017882.3(CLN6):c.300C>T (p.Leu100=)
NM_017882.3(CLN6):c.303C>T (p.Ile101=) rs1369226101
NM_017882.3(CLN6):c.309G>A (p.Arg103=)
NM_017882.3(CLN6):c.309G>T (p.Arg103=) rs2141139457
NM_017882.3(CLN6):c.311C>T (p.Ser104Phe) rs777921628
NM_017882.3(CLN6):c.314C>T (p.Pro105Leu) rs769747737
NM_017882.3(CLN6):c.316C>G (p.Arg106Gly)
NM_017882.3(CLN6):c.316dup (p.Arg106fs) rs397515352
NM_017882.3(CLN6):c.321C>T (p.Thr107=) rs755184214
NM_017882.3(CLN6):c.322del (p.Leu108fs)
NM_017882.3(CLN6):c.324G>T (p.Leu108=) rs2093206574
NM_017882.3(CLN6):c.329G>T (p.Arg110Leu) rs140179213
NM_017882.3(CLN6):c.32G>C (p.Gly11Ala) rs2093262694
NM_017882.3(CLN6):c.330C>T (p.Arg110=)
NM_017882.3(CLN6):c.333C>T (p.Ser111=) rs995775001
NM_017882.3(CLN6):c.33A>G (p.Gly11=) rs2141156259
NM_017882.3(CLN6):c.342C>A (p.Tyr114Ter)
NM_017882.3(CLN6):c.342C>T (p.Tyr114=) rs765719755
NM_017882.3(CLN6):c.349ATC[2] (p.Ile119del) rs886051447
NM_017882.3(CLN6):c.351C>T (p.Ile117=)
NM_017882.3(CLN6):c.354C>T (p.Ile118=) rs1555438691
NM_017882.3(CLN6):c.358_366del (p.Phe120_Met122del) rs1401381423
NM_017882.3(CLN6):c.360C>A (p.Phe120Leu) rs1362402324
NM_017882.3(CLN6):c.363C>G (p.Ile121Met) rs148547876
NM_017882.3(CLN6):c.363C>T (p.Ile121=)
NM_017882.3(CLN6):c.364A>G (p.Met122Val)
NM_017882.3(CLN6):c.365T>C (p.Met122Thr) rs2093206265
NM_017882.3(CLN6):c.366G>C (p.Met122Ile)
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp) rs104894484
NM_017882.3(CLN6):c.371C>T (p.Ala124Val) rs1567095879
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly) rs772893554
NM_017882.3(CLN6):c.375C>T (p.Ser125=) rs2093206218
NM_017882.3(CLN6):c.377T>C (p.Ile126Thr) rs2141139324
NM_017882.3(CLN6):c.377_378delinsG (p.Ile126fs)
NM_017882.3(CLN6):c.384G>A (p.Leu128=)
NM_017882.3(CLN6):c.385dup (p.Val129fs)
NM_017882.3(CLN6):c.388G>A (p.Gly130Ser)
NM_017882.3(CLN6):c.395_396del (p.Ser132fs) rs774543080
NM_017882.3(CLN6):c.396T>G (p.Ser132=) rs949403836
NM_017882.3(CLN6):c.397_398del (p.Val133fs) rs766493088
NM_017882.3(CLN6):c.39G>C (p.Thr13=)
NM_017882.3(CLN6):c.3G>A (p.Met1Ile) rs2093262869
NM_017882.3(CLN6):c.401A>G (p.Asn134Ser)
NM_017882.3(CLN6):c.403C>G (p.His135Asp)
NM_017882.3(CLN6):c.405C>T (p.His135=)
NM_017882.3(CLN6):c.406C>T (p.Arg136Cys) rs1012449574
NM_017882.3(CLN6):c.407del (p.Arg136fs)
NM_017882.3(CLN6):c.40G>A (p.Gly14Ser) rs2093262651
NM_017882.3(CLN6):c.410T>A (p.Leu137Gln)
NM_017882.3(CLN6):c.411G>A (p.Leu137=) rs748062705
NM_017882.3(CLN6):c.412C>T (p.Leu138Phe)
NM_017882.3(CLN6):c.414C>G (p.Leu138=)
NM_017882.3(CLN6):c.414C>T (p.Leu138=) rs2093206040
NM_017882.3(CLN6):c.424dup (p.Tyr142fs)
NM_017882.3(CLN6):c.425A>G (p.Tyr142Cys) rs1227254537
NM_017882.3(CLN6):c.426C>G (p.Tyr142Ter)
NM_017882.3(CLN6):c.426C>T (p.Tyr142=) rs768766915
NM_017882.3(CLN6):c.427C>T (p.Gln143Ter) rs2093205953
NM_017882.3(CLN6):c.429G>A (p.Gln143=)
NM_017882.3(CLN6):c.431A>G (p.His144Arg) rs1595818258
NM_017882.3(CLN6):c.437T>C (p.Leu146Pro) rs1595818249
NM_017882.3(CLN6):c.441T>G (p.Ser147=) rs1595818241
NM_017882.3(CLN6):c.443T>A (p.Val148Asp) rs1555438678
NM_017882.3(CLN6):c.444C>G (p.Val148=) rs2141139200
NM_017882.3(CLN6):c.444C>T (p.Val148=)
NM_017882.3(CLN6):c.455C>G (p.Pro152Arg) rs2141139183
NM_017882.3(CLN6):c.456C>A (p.Pro152=) rs2141139176
NM_017882.3(CLN6):c.456del (p.Ile153fs)
NM_017882.3(CLN6):c.45C>T (p.Gly15=)
NM_017882.3(CLN6):c.462C>T (p.Ile154=) rs2141139170
NM_017882.3(CLN6):c.465G>A (p.Lys155=)
NM_017882.3(CLN6):c.469C>A (p.Leu157Ile) rs2093205792
NM_017882.3(CLN6):c.471C>G (p.Leu157=)
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu) rs919850756
NM_017882.3(CLN6):c.483G>A (p.Thr161=) rs2141139146
NM_017882.3(CLN6):c.483G>T (p.Thr161=) rs2141139146
NM_017882.3(CLN6):c.486+11C>A
NM_017882.3(CLN6):c.486+11C>T
NM_017882.3(CLN6):c.486+12T>G
NM_017882.3(CLN6):c.486+13C>T
NM_017882.3(CLN6):c.486+15dup
NM_017882.3(CLN6):c.486+16G>A
NM_017882.3(CLN6):c.486+16dup
NM_017882.3(CLN6):c.486+17C>A
NM_017882.3(CLN6):c.486+19C>G
NM_017882.3(CLN6):c.486+1G>C rs756522171
NM_017882.3(CLN6):c.486+7C>G rs1481891129
NM_017882.3(CLN6):c.486+8C>A rs149692285
NM_017882.3(CLN6):c.487-10C>G
NM_017882.3(CLN6):c.487-10C>T rs778284215
NM_017882.3(CLN6):c.487-12T>A rs571940397
NM_017882.3(CLN6):c.487-19C>T rs2141138841
NM_017882.3(CLN6):c.487-1G>T
NM_017882.3(CLN6):c.487-3C>G rs1468531022
NM_017882.3(CLN6):c.487-5C>A
NM_017882.3(CLN6):c.487-7C>A
NM_017882.3(CLN6):c.487-7C>G rs2141138813
NM_017882.3(CLN6):c.487-7C>T rs2141138813
NM_017882.3(CLN6):c.487-9C>G
NM_017882.3(CLN6):c.48A>C (p.Pro16=)
NM_017882.3(CLN6):c.490G>A (p.Asp164Asn) rs779685727
NM_017882.3(CLN6):c.493T>C (p.Ser165Pro)
NM_017882.3(CLN6):c.494C>T (p.Ser165Phe) rs1595818025
NM_017882.3(CLN6):c.495C>T (p.Ser165=)
NM_017882.3(CLN6):c.497T>C (p.Phe166Ser) rs2093204354
NM_017882.3(CLN6):c.498dup (p.Glu167Ter) rs762902907
NM_017882.3(CLN6):c.499G>T (p.Glu167Ter) rs2093204342
NM_017882.3(CLN6):c.4G>A (p.Glu2Lys) rs796052360
NM_017882.3(CLN6):c.501G>A (p.Glu167=)
NM_017882.3(CLN6):c.502C>T (p.Leu168=) rs2141138776
NM_017882.3(CLN6):c.504G>A (p.Leu168=)
NM_017882.3(CLN6):c.506T>A (p.Leu169His) rs1344658850
NM_017882.3(CLN6):c.506T>C (p.Leu169Pro) rs1344658850
NM_017882.3(CLN6):c.507C>T (p.Leu169=) rs1273285939
NM_017882.3(CLN6):c.510C>A (p.Tyr170Ter)
NM_017882.3(CLN6):c.511TAT[1] (p.Tyr172del) rs121908079
NM_017882.3(CLN6):c.514T>C (p.Tyr172His) rs2141138753
NM_017882.3(CLN6):c.516TGA[1] (p.Asp173del) rs916824303
NM_017882.3(CLN6):c.519T>C (p.Asp173=) rs756942559
NM_017882.3(CLN6):c.525C>T (p.Tyr175=)
NM_017882.3(CLN6):c.526C>T (p.Leu176=) rs2141138733
NM_017882.3(CLN6):c.528G>A (p.Leu176=) rs2141138731
NM_017882.3(CLN6):c.528G>C (p.Leu176=) rs2141138731
NM_017882.3(CLN6):c.542+11G>A
NM_017882.3(CLN6):c.542+12G>T
NM_017882.3(CLN6):c.542+13C>G
NM_017882.3(CLN6):c.542+13C>T
NM_017882.3(CLN6):c.542+14C>T
NM_017882.3(CLN6):c.542+15del
NM_017882.3(CLN6):c.542+16A>T
NM_017882.3(CLN6):c.542+1G>T rs1555438614
NM_017882.3(CLN6):c.542+20G>A
NM_017882.3(CLN6):c.542+2T>C
NM_017882.3(CLN6):c.542+5G>T rs786205066
NM_017882.3(CLN6):c.542G>A (p.Trp181Ter) rs1380684360
NM_017882.3(CLN6):c.543-10C>A rs767297743
NM_017882.3(CLN6):c.543-13C>G
NM_017882.3(CLN6):c.543-17T>C
NM_017882.3(CLN6):c.543-19A>G
NM_017882.3(CLN6):c.543-2A>G rs2141137336
NM_017882.3(CLN6):c.543-8T>C
NM_017882.3(CLN6):c.543G>A (p.Trp181Ter) rs1555438443
NM_017882.3(CLN6):c.546C>T (p.Tyr182=) rs751550252
NM_017882.3(CLN6):c.546del (p.Trp181_Tyr182insTer)
NM_017882.3(CLN6):c.54G>A (p.Ala18=) rs1199248099
NM_017882.3(CLN6):c.551C>T (p.Pro184Leu)
NM_017882.3(CLN6):c.552C>T (p.Pro184=) rs1595817219
NM_017882.3(CLN6):c.552dup (p.Phe185fs) rs1567095153
NM_017882.3(CLN6):c.553T>G (p.Phe185Val) rs2093199272
NM_017882.3(CLN6):c.553TTC[1] (p.Phe186del) rs2141137304
NM_017882.3(CLN6):c.555C>T (p.Phe185=) rs1595817218
NM_017882.3(CLN6):c.559C>T (p.Leu187Phe) rs764670832
NM_017882.3(CLN6):c.563T>C (p.Ile188Thr) rs763059017
NM_017882.3(CLN6):c.564C>T (p.Ile188=) rs371326037
NM_017882.3(CLN6):c.565C>T (p.Leu189Phe)
NM_017882.3(CLN6):c.567C>T (p.Leu189=) rs762214934
NM_017882.3(CLN6):c.570_572del (p.Phe190_Met191delinsLeu)
NM_017882.3(CLN6):c.571A>G (p.Met191Val) rs1555438435
NM_017882.3(CLN6):c.57G>C (p.Gln19His) rs2093262571
NM_017882.3(CLN6):c.583_596del (p.Gly195fs) rs2093199030
NM_017882.3(CLN6):c.587G>T (p.Cys196Phe) rs2093199089
NM_017882.3(CLN6):c.588C>T (p.Cys196=) rs770515770
NM_017882.3(CLN6):c.597C>A (p.Ala199=)
NM_017882.3(CLN6):c.601A>T (p.Lys201Ter)
NM_017882.3(CLN6):c.602A>C (p.Lys201Thr) rs2141137255
NM_017882.3(CLN6):c.606T>C (p.Ala202=)
NM_017882.3(CLN6):c.609G>A (p.Glu203=) rs1026588122
NM_017882.3(CLN6):c.60G>C (p.Leu20=)
NM_017882.3(CLN6):c.613T>C (p.Leu205=)
NM_017882.3(CLN6):c.617T>C (p.Ile206Thr) rs2141137247
NM_017882.3(CLN6):c.61_62insCGG (p.Leu20_Gly21insAla) rs878855040
NM_017882.3(CLN6):c.623G>A (p.Gly208Glu) rs2141137239
NM_017882.3(CLN6):c.624G>A (p.Gly208=)
NM_017882.3(CLN6):c.625C>T (p.Pro209Ser) rs1064794559
NM_017882.3(CLN6):c.631C>T (p.Leu211=)
NM_017882.3(CLN6):c.633G>T (p.Leu211=)
NM_017882.3(CLN6):c.636C>T (p.Leu212=) rs758612277
NM_017882.3(CLN6):c.640G>A (p.Val214Met)
NM_017882.3(CLN6):c.642G>A (p.Val214=)
NM_017882.3(CLN6):c.649A>G (p.Ser217Gly) rs1567095087
NM_017882.3(CLN6):c.64G>A (p.Ala22Thr) rs527373013
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser) rs527373013
NM_017882.3(CLN6):c.653G>A (p.Gly218Asp) rs1160988895
NM_017882.3(CLN6):c.653G>T (p.Gly218Val) rs1160988895
NM_017882.3(CLN6):c.655C>T (p.Leu219=)
NM_017882.3(CLN6):c.655del (p.Leu219fs) rs2141137200
NM_017882.3(CLN6):c.657G>A (p.Leu219=) rs1363322956
NM_017882.3(CLN6):c.658_665del (p.Tyr220fs)
NM_017882.3(CLN6):c.659A>C (p.Tyr220Ser) rs2093198812
NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys) rs764571295
NM_017882.3(CLN6):c.663C>G (p.Tyr221Ter) rs104894486
NM_017882.3(CLN6):c.665+10C>T rs1254894871
NM_017882.3(CLN6):c.665+11A>T
NM_017882.3(CLN6):c.665+12T>A
NM_017882.3(CLN6):c.665+14A>T
NM_017882.3(CLN6):c.665+18T>C
NM_017882.3(CLN6):c.665+18T>G
NM_017882.3(CLN6):c.665+19G>A
NM_017882.3(CLN6):c.665+1G>A rs796052356
NM_017882.3(CLN6):c.665+7G>A
NM_017882.3(CLN6):c.665G>A (p.Trp222Ter) rs1555438411
NM_017882.3(CLN6):c.666-12T>C
NM_017882.3(CLN6):c.666-15C>T
NM_017882.3(CLN6):c.666-16C>T rs2141136181
NM_017882.3(CLN6):c.666-19_666-16del
NM_017882.3(CLN6):c.666-4C>T rs2141136177
NM_017882.3(CLN6):c.666-5T>C
NM_017882.3(CLN6):c.666-5T>G
NM_017882.3(CLN6):c.666-9C>T
NM_017882.3(CLN6):c.667T>C (p.Tyr223His) rs2093194324
NM_017882.3(CLN6):c.669C>T (p.Tyr223=)
NM_017882.3(CLN6):c.66C>T (p.Ala22=) rs796052349
NM_017882.3(CLN6):c.66del (p.Ser23fs) rs2093262507
NM_017882.3(CLN6):c.670C>T (p.Leu224=)
NM_017882.3(CLN6):c.672G>T (p.Leu224=)
NM_017882.3(CLN6):c.675C>A (p.Val225=)
NM_017882.3(CLN6):c.675C>T (p.Val225=)
NM_017882.3(CLN6):c.678C>G (p.Thr226=) rs374744816
NM_017882.3(CLN6):c.681G>A (p.Glu227=) rs1486759204
NM_017882.3(CLN6):c.683G>A (p.Gly228Asp)
NM_017882.3(CLN6):c.684C>A (p.Gly228=) rs1209133488
NM_017882.3(CLN6):c.685C>G (p.Gln229Glu)
NM_017882.3(CLN6):c.68C>A (p.Ser23Tyr)
NM_017882.3(CLN6):c.690C>A (p.Ile230=)
NM_017882.3(CLN6):c.696C>G (p.Ile232Met) rs2141136135
NM_017882.3(CLN6):c.69C>T (p.Ser23=)
NM_017882.3(CLN6):c.701T>C (p.Phe234Ser) rs2141136125
NM_017882.3(CLN6):c.702C>A (p.Phe234Leu) rs1555438267
NM_017882.3(CLN6):c.706T>G (p.Phe236Val) rs796052358
NM_017882.3(CLN6):c.711C>T (p.Thr237=) rs2141136113
NM_017882.3(CLN6):c.712_713delinsAC (p.Phe238Thr) rs2141136108
NM_017882.3(CLN6):c.717C>T (p.Phe239=) rs745850620
NM_017882.3(CLN6):c.719C>T (p.Ala240Val) rs2093194119
NM_017882.3(CLN6):c.720C>T (p.Ala240=)
NM_017882.3(CLN6):c.721A>G (p.Met241Val) rs753994750
NM_017882.3(CLN6):c.722T>C (p.Met241Thr) rs1555438255
NM_017882.3(CLN6):c.723G>C (p.Met241Ile)
NM_017882.3(CLN6):c.723G>T (p.Met241Ile) rs149262877
NM_017882.3(CLN6):c.724C>T (p.Leu242=) rs2093194081
NM_017882.3(CLN6):c.730C>G (p.Leu244Val) rs2093194059
NM_017882.3(CLN6):c.733G>A (p.Val245Ile) rs377192977
NM_017882.3(CLN6):c.735C>G (p.Val245=)
NM_017882.3(CLN6):c.739del (p.His247fs)
NM_017882.3(CLN6):c.73C>T (p.Leu25=)
NM_017882.3(CLN6):c.746A>C (p.Lys249Thr)
NM_017882.3(CLN6):c.747G>A (p.Lys249=) rs2093194013
NM_017882.3(CLN6):c.753G>A (p.Lys251=)
NM_017882.3(CLN6):c.756C>T (p.Arg252=)
NM_017882.3(CLN6):c.757C>T (p.Leu253Phe) rs1274562752
NM_017882.3(CLN6):c.759C>G (p.Leu253=) rs1567094628
NM_017882.3(CLN6):c.759C>T (p.Leu253=) rs1567094628
NM_017882.3(CLN6):c.75G>A (p.Leu25=)
NM_017882.3(CLN6):c.75G>T (p.Leu25=) rs2093262478
NM_017882.3(CLN6):c.765G>A (p.Leu255=)
NM_017882.3(CLN6):c.766_770del (p.Asp256fs) rs1555438234
NM_017882.3(CLN6):c.773A>G (p.Asn258Ser)
NM_017882.3(CLN6):c.774C>T (p.Asn258=) rs1555438231
NM_017882.3(CLN6):c.775G>C (p.Gly259Arg) rs150363441
NM_017882.3(CLN6):c.775G>T (p.Gly259Cys) rs150363441
NM_017882.3(CLN6):c.777C>T (p.Gly259=)
NM_017882.3(CLN6):c.783C>G (p.Phe261Leu)
NM_017882.3(CLN6):c.783C>T (p.Phe261=)
NM_017882.3(CLN6):c.786C>T (p.Leu262=)
NM_017882.3(CLN6):c.786_787dup (p.Phe263fs) rs1555438229
NM_017882.3(CLN6):c.789C>T (p.Phe263=)
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_017882.3(CLN6):c.795C>T (p.Ser265=)
NM_017882.3(CLN6):c.7del (p.Ala3fs) rs786205065
NM_017882.3(CLN6):c.802C>T (p.Leu268=)
NM_017882.3(CLN6):c.804G>A (p.Leu268=) rs2141135982
NM_017882.3(CLN6):c.804G>T (p.Leu268=) rs2141135982
NM_017882.3(CLN6):c.813G>A (p.Leu271=)
NM_017882.3(CLN6):c.814C>G (p.Leu272Val)
NM_017882.3(CLN6):c.81C>T (p.Ala27=)
NM_017882.3(CLN6):c.822G>C (p.Ala274=)
NM_017882.3(CLN6):c.822G>T (p.Ala274=)
NM_017882.3(CLN6):c.825C>G (p.Leu275=)
NM_017882.3(CLN6):c.827G>A (p.Trp276Ter)
NM_017882.3(CLN6):c.828G>T (p.Trp276Cys) rs2093193718
NM_017882.3(CLN6):c.829_832del (p.Val277fs) rs1595816474
NM_017882.3(CLN6):c.82A>T (p.Arg28Trp) rs2093262448
NM_017882.3(CLN6):c.83+11G>A rs2093262385
NM_017882.3(CLN6):c.83+13C>G
NM_017882.3(CLN6):c.83+14G>A
NM_017882.3(CLN6):c.83+14dup rs756808642
NM_017882.3(CLN6):c.83+15G>A
NM_017882.3(CLN6):c.83+2T>G rs1555440188
NM_017882.3(CLN6):c.83+6C>T
NM_017882.3(CLN6):c.83+7G>A rs1595826955
NM_017882.3(CLN6):c.83+9G>A rs2141156141
NM_017882.3(CLN6):c.83+9G>C
NM_017882.3(CLN6):c.831C>A (p.Val277=)
NM_017882.3(CLN6):c.834C>T (p.Ala278=)
NM_017882.3(CLN6):c.837del (p.Trp279fs) rs1595816465
NM_017882.3(CLN6):c.838C>A (p.Leu280Met)
NM_017882.3(CLN6):c.84-12G>C
NM_017882.3(CLN6):c.84-16T>A
NM_017882.3(CLN6):c.84-17G>A
NM_017882.3(CLN6):c.84-17G>T
NM_017882.3(CLN6):c.84-17_84-15del
NM_017882.3(CLN6):c.84-18C>A
NM_017882.3(CLN6):c.84-3del rs2141145190
NM_017882.3(CLN6):c.84-4C>G
NM_017882.3(CLN6):c.84-4C>T
NM_017882.3(CLN6):c.840G>C (p.Leu280=)
NM_017882.3(CLN6):c.849C>A (p.Asp283Glu) rs1239948245
NM_017882.3(CLN6):c.852T>A (p.Pro284=)
NM_017882.3(CLN6):c.852T>C (p.Pro284=) rs2141135937
NM_017882.3(CLN6):c.858C>G (p.Leu286=)
NM_017882.3(CLN6):c.858C>T (p.Leu286=) rs1043430340
NM_017882.3(CLN6):c.859A>T (p.Arg287Trp) rs2141135931
NM_017882.3(CLN6):c.864G>T (p.Lys288Asn)
NM_017882.3(CLN6):c.872dup (p.Val293fs)
NM_017882.3(CLN6):c.873G>A (p.Pro291=) rs567275786
NM_017882.3(CLN6):c.875G>C (p.Gly292Ala)
NM_017882.3(CLN6):c.876T>C (p.Gly292=) rs916275768
NM_017882.3(CLN6):c.879C>T (p.Val293=)
NM_017882.3(CLN6):c.883T>C (p.Tyr295His)
NM_017882.3(CLN6):c.884A>G (p.Tyr295Cys) rs2141135900
NM_017882.3(CLN6):c.888C>T (p.Val296=)
NM_017882.3(CLN6):c.890del (p.Pro297fs) rs154774639
NM_017882.3(CLN6):c.896C>A (p.Pro299His) rs758921701
NM_017882.3(CLN6):c.909C>A (p.Tyr303Ter) rs1448520404
NM_017882.3(CLN6):c.90C>G (p.Gly30=)
NM_017882.3(CLN6):c.912C>G (p.Thr304=)
NM_017882.3(CLN6):c.915del (p.His306fs)
NM_017882.3(CLN6):c.919G>A (p.Val307Ile) rs146801142
NM_017882.3(CLN6):c.919G>T (p.Val307Phe) rs146801142
NM_017882.3(CLN6):c.921_922delinsTC (p.Ser308Arg) rs2141135839
NM_017882.3(CLN6):c.925A>C (p.Ser309Arg) rs762916725
NM_017882.3(CLN6):c.925A>G (p.Ser309Gly) rs762916725
NM_017882.3(CLN6):c.928C>T (p.Arg310Trp)
NM_017882.3(CLN6):c.92C>G (p.Ser31Cys) rs2141145171
NM_017882.3(CLN6):c.95T>G (p.Val32Gly)
NM_017882.3(CLN6):c.9G>A (p.Ala3=)
NM_017882.3(CLN6):c.9G>C (p.Ala3=)

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