ClinVar Miner

List of variants reported as likely benign for Neuronal ceroid lipofuscinosis by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1702
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018941.4(CLN8):c.290G>A (p.Arg97His) rs116605307 0.00236
NM_018941.4(CLN8):c.11C>T (p.Ala4Val) rs147181589 0.00175
NM_006493.4(CLN5):c.-146T>C rs201615354 0.00104
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_001042432.2(CLN3):c.238A>T (p.Thr80Ser) rs150348015 0.00074
NM_018941.4(CLN8):c.513C>G (p.Pro171=) rs376910635 0.00073
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu) rs146579299 0.00068
NM_018941.4(CLN8):c.546G>A (p.Ala182=) rs144047076 0.00064
NM_001042432.2(CLN3):c.963-16C>G rs200023908 0.00051
NM_025219.3(DNAJC5):c.282C>T (p.Asn94=) rs113207069 0.00051
NM_017882.3(CLN6):c.487-15C>T rs200775021 0.00049
NM_001042432.2(CLN3):c.831G>A (p.Val277=) rs1142183 0.00045
NM_017882.3(CLN6):c.822G>A (p.Ala274=) rs151186473 0.00041
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=) rs201206239 0.00040
NM_001909.5(CTSD):c.75G>A (p.Pro25=) rs140563067 0.00040
NM_001909.5(CTSD):c.353-11G>A rs372689713 0.00039
NM_017882.3(CLN6):c.42C>A (p.Gly14=) rs373776911 0.00036
NM_001909.5(CTSD):c.1071+12A>G rs113936232 0.00034
NM_001042432.2(CLN3):c.678-18C>A rs370158185 0.00031
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617 0.00029
NM_001909.5(CTSD):c.1071+7G>A rs374010531 0.00029
NM_001909.5(CTSD):c.154G>A (p.Val52Ile) rs143517230 0.00026
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr) rs147800688 0.00025
NM_001909.5(CTSD):c.828-18C>T rs377228580 0.00022
NM_001909.5(CTSD):c.228+18G>T rs376354665 0.00021
NM_017882.3(CLN6):c.282C>A (p.Pro94=) rs139261571 0.00021
NM_001909.5(CTSD):c.68+10C>T rs760082760 0.00020
NM_017882.3(CLN6):c.741C>T (p.His247=) rs140653271 0.00020
NM_001909.5(CTSD):c.240C>T (p.Tyr80=) rs147641822 0.00019
NM_001909.5(CTSD):c.294G>A (p.Thr98=) rs369373285 0.00019
NM_001042432.2(CLN3):c.537C>T (p.Ala179=) rs147667964 0.00016
NM_001042432.2(CLN3):c.677+8G>A rs368568189 0.00015
NM_001042432.2(CLN3):c.174C>T (p.Ala58=) rs138433617 0.00014
NM_018941.4(CLN8):c.207G>A (p.Thr69=) rs368365607 0.00014
NM_001909.5(CTSD):c.1077G>A (p.Ser359=) rs138940129 0.00013
NM_001909.5(CTSD):c.1230C>T (p.Ala410=) rs772742148 0.00013
NM_001909.5(CTSD):c.957G>A (p.Pro319=) rs369229897 0.00013
NM_017882.3(CLN6):c.477G>A (p.Pro159=) rs370811678 0.00013
NM_025219.3(DNAJC5):c.324C>G (p.Ala108=) rs141103374 0.00013
NM_001909.5(CTSD):c.1202A>G (p.Asn401Ser) rs147553344 0.00012
NM_001909.5(CTSD):c.90G>A (p.Thr30=) rs368529527 0.00012
NM_018941.4(CLN8):c.333G>A (p.Thr111=) rs377273687 0.00012
NM_025219.3(DNAJC5):c.531C>T (p.Ser177=) rs376694698 0.00012
NM_001042432.2(CLN3):c.1022G>A (p.Arg341His) rs201271341 0.00011
NM_001909.5(CTSD):c.100C>T (p.Arg34Trp) rs779278368 0.00011
NM_001909.5(CTSD):c.1122C>T (p.Asp374=) rs145821780 0.00011
NM_017882.3(CLN6):c.585C>T (p.Gly195=) rs144507672 0.00011
NM_001909.5(CTSD):c.471+16G>A rs567387961 0.00010
NM_018941.4(CLN8):c.725C>T (p.Thr242Met) rs138821993 0.00010
NM_001042432.2(CLN3):c.759C>A (p.Leu253=) rs772274552 0.00009
NM_006493.4(CLN5):c.417C>T (p.Phe139=) rs371229525 0.00009
NM_017882.3(CLN6):c.298-15C>T rs368661456 0.00009
NM_025219.3(DNAJC5):c.237C>T (p.Tyr79=) rs149971662 0.00009
NM_025219.3(DNAJC5):c.494-20C>T rs377764458 0.00009
NM_001042432.2(CLN3):c.1209G>A (p.Glu403=) rs377369610 0.00008
NM_001909.5(CTSD):c.1137C>T (p.Ser379=) rs141981301 0.00008
NM_001909.5(CTSD):c.471+15G>C rs201413619 0.00008
NM_001909.5(CTSD):c.630C>T (p.Asn210=) rs375282504 0.00008
NM_006493.4(CLN5):c.120C>T (p.Gly40=) rs370320230 0.00008
NM_017882.3(CLN6):c.798C>T (p.Phe266=) rs140319056 0.00008
NM_018941.4(CLN8):c.15C>T (p.Ser5=) rs374597781 0.00008
NM_018941.4(CLN8):c.300G>A (p.Gln100=) rs148988002 0.00008
NM_018941.4(CLN8):c.522C>T (p.Cys174=) rs148417620 0.00008
NM_018941.4(CLN8):c.796G>A (p.Ala266Thr) rs766292710 0.00008
NM_001042432.2(CLN3):c.291G>A (p.Thr97=) rs367945307 0.00007
NM_001909.5(CTSD):c.261G>A (p.Thr87=) rs372181453 0.00007
NM_006493.4(CLN5):c.642A>T (p.Val214=) rs751496223 0.00007
NM_001042432.2(CLN3):c.1197+13C>T rs370103287 0.00006
NM_001042432.2(CLN3):c.126-8C>T rs770136863 0.00006
NM_001042432.2(CLN3):c.223-5A>G rs1210022838 0.00006
NM_001042432.2(CLN3):c.677+18G>A rs200503055 0.00006
NM_001909.5(CTSD):c.111G>A (p.Ser37=) rs535140505 0.00006
NM_001909.5(CTSD):c.153C>T (p.Pro51=) rs560041488 0.00006
NM_001909.5(CTSD):c.174G>A (p.Ala58=) rs565191387 0.00006
NM_001909.5(CTSD):c.267C>G (p.Pro89=) rs139154882 0.00006
NM_001909.5(CTSD):c.411G>A (p.Ser137=) rs372999684 0.00006
NM_001909.5(CTSD):c.627C>T (p.Asn209=) rs772453588 0.00006
NM_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.597C>G (p.Ala199=) rs368546281 0.00006
NM_017882.3(CLN6):c.637C>T (p.Leu213=) rs750548623 0.00006
NM_018941.4(CLN8):c.510G>A (p.Thr170=) rs759153401 0.00006
NM_018941.4(CLN8):c.708C>T (p.Val236=) rs200760828 0.00006
NM_025219.3(DNAJC5):c.243G>A (p.Ser81=) rs532410241 0.00006
NM_025219.3(DNAJC5):c.419C>T (p.Ala140Val) rs144915847 0.00006
NM_025219.3(DNAJC5):c.528A>G (p.Ala176=) rs773154613 0.00006
NM_001042432.2(CLN3):c.1158C>T (p.Gly386=) rs145340637 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.84G>A (p.Leu28=) rs1004740919 0.00005
NM_001042432.2(CLN3):c.975G>A (p.Leu325=) rs150174473 0.00005
NM_001909.5(CTSD):c.216G>A (p.Lys72=) rs764982673 0.00005
NM_001909.5(CTSD):c.37C>T (p.Leu13=) rs763474887 0.00005
NM_001909.5(CTSD):c.410C>T (p.Ser137Leu) rs777645484 0.00005
NM_001909.5(CTSD):c.534C>G (p.Val178=) rs758852382 0.00005
NM_001909.5(CTSD):c.606C>G (p.Ala202=) rs775478289 0.00005
NM_006493.4(CLN5):c.173+12G>T rs781182241 0.00005
NM_006493.4(CLN5):c.687C>T (p.Tyr229=) rs778480440 0.00005
NM_017882.3(CLN6):c.15G>A (p.Arg5=) rs1008565735 0.00005
NM_017882.3(CLN6):c.204A>G (p.Val68=) rs774960579 0.00005
NM_017882.3(CLN6):c.279G>A (p.Thr93=) rs746613593 0.00005
NM_017882.3(CLN6):c.678C>T (p.Thr226=) rs374744816 0.00005
NM_017882.3(CLN6):c.72C>T (p.Phe24=) rs767394326 0.00005
NM_018941.4(CLN8):c.246G>A (p.Leu82=) rs144015378 0.00005
NM_018941.4(CLN8):c.666G>A (p.Leu222=) rs532934034 0.00005
NM_025219.3(DNAJC5):c.231C>T (p.Asp77=) rs766072943 0.00005
NM_025219.3(DNAJC5):c.486C>T (p.Asp162=) rs145468246 0.00005
NM_025219.3(DNAJC5):c.513C>T (p.Ile171=) rs745794091 0.00005
NM_025219.3(DNAJC5):c.52C>G (p.His18Asp) rs780154907 0.00005
NM_001042432.2(CLN3):c.1002C>T (p.Arg334=) rs140828382 0.00004
NM_001042432.2(CLN3):c.1095C>T (p.Phe365=) rs757106140 0.00004
NM_001042432.2(CLN3):c.1119C>T (p.Leu373=) rs376478363 0.00004
NM_001042432.2(CLN3):c.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.516C>T (p.Leu172=) rs148846795 0.00004
NM_001909.5(CTSD):c.1062C>T (p.Tyr354=) rs764106396 0.00004
NM_001909.5(CTSD):c.393C>T (p.Tyr131=) rs776128996 0.00004
NM_001909.5(CTSD):c.447G>A (p.Gly149=) rs752032660 0.00004
NM_001909.5(CTSD):c.510C>T (p.Gly170=) rs749196696 0.00004
NM_001909.5(CTSD):c.693C>T (p.Phe231=) rs534216994 0.00004
NM_001909.5(CTSD):c.697C>T (p.Leu233=) rs142330967 0.00004
NM_001909.5(CTSD):c.828-4G>A rs371034011 0.00004
NM_001909.5(CTSD):c.927C>T (p.Arg309=) rs1174115566 0.00004
NM_001909.5(CTSD):c.972+7G>A rs371747998 0.00004
NM_001909.5(CTSD):c.972+9C>T rs746243061 0.00004
NM_006493.4(CLN5):c.27G>A (p.Gln9=) rs373102871 0.00004
NM_006493.4(CLN5):c.486C>T (p.Gly162=) rs769007858 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.755G>A (p.Arg252His) rs374681194 0.00004
NM_018941.4(CLN8):c.279C>T (p.Ala93=) rs372313992 0.00004
NM_018941.4(CLN8):c.523G>A (p.Val175Ile) rs768139689 0.00004
NM_025219.3(DNAJC5):c.108-3C>T rs541118679 0.00004
NM_025219.3(DNAJC5):c.420G>T (p.Ala140=) rs568985915 0.00004
NM_001042432.2(CLN3):c.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.1269G>A (p.Ser423=) rs200719311 0.00003
NM_001042432.2(CLN3):c.180C>T (p.His60=) rs150120797 0.00003
NM_001042432.2(CLN3):c.46+13G>A rs532377265 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_001909.5(CTSD):c.288C>T (p.Phe96=) rs778220078 0.00003
NM_001909.5(CTSD):c.432G>A (p.Ser144=) rs587780916 0.00003
NM_001909.5(CTSD):c.472-11C>G rs753302848 0.00003
NM_001909.5(CTSD):c.704+18C>T rs371260793 0.00003
NM_001909.5(CTSD):c.771T>C (p.Gly257=) rs376607594 0.00003
NM_001909.5(CTSD):c.828-5C>T rs762444592 0.00003
NM_001909.5(CTSD):c.882G>A (p.Val294=) rs778999077 0.00003
NM_001909.5(CTSD):c.945C>T (p.Ile315=) rs752172496 0.00003
NM_006493.2(CLN5):c.54A>G (p.Gln18=) rs767480061 0.00003
NM_006493.4(CLN5):c.-103G>T rs777933047 0.00003
NM_006493.4(CLN5):c.420A>G (p.Gln140=) rs753732321 0.00003
NM_006493.4(CLN5):c.424G>C (p.Gly142Arg) rs201464545 0.00003
NM_017882.3(CLN6):c.120G>A (p.Thr40=) rs1034192926 0.00003
NM_017882.3(CLN6):c.157C>T (p.Leu53=) rs1172062931 0.00003
NM_017882.3(CLN6):c.36G>A (p.Ala12=) rs1048000119 0.00003
NM_017882.3(CLN6):c.534C>T (p.His178=) rs763901402 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.924C>T (p.Ser308=) rs774237925 0.00003
NM_018941.4(CLN8):c.270G>A (p.Val90=) rs561448346 0.00003
NM_018941.4(CLN8):c.288G>A (p.Ala96=) rs533351136 0.00003
NM_018941.4(CLN8):c.543+17G>T rs370471193 0.00003
NM_018941.4(CLN8):c.582G>A (p.Gln194=) rs139824802 0.00003
NM_018941.4(CLN8):c.66G>C (p.Gly22=) rs763583156 0.00003
NM_018941.4(CLN8):c.726G>A (p.Thr242=) rs200529220 0.00003
NM_025219.3(DNAJC5):c.189G>A (p.Ala63=) rs746052000 0.00003
NM_025219.3(DNAJC5):c.204G>A (p.Thr68=) rs1002205118 0.00003
NM_025219.3(DNAJC5):c.255C>T (p.Tyr85=) rs749077830 0.00003
NM_025219.3(DNAJC5):c.322-5C>A rs373568941 0.00003
NM_001042432.2(CLN3):c.1135C>T (p.Leu379=) rs890026046 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.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.693C>T (p.Leu231=) rs376590377 0.00002
NM_001042432.2(CLN3):c.741C>T (p.Ser247=) rs148782327 0.00002
NM_001909.5(CTSD):c.1101G>A (p.Leu367=) rs777289049 0.00002
NM_001909.5(CTSD):c.270G>A (p.Gln90=) rs587780915 0.00002
NM_001909.5(CTSD):c.352+8A>T rs944771031 0.00002
NM_001909.5(CTSD):c.352+9C>T rs764034136 0.00002
NM_001909.5(CTSD):c.444C>T (p.Ser148=) rs767817481 0.00002
NM_001909.5(CTSD):c.69-12C>T rs764025297 0.00002
NM_001909.5(CTSD):c.69-16G>A rs377703110 0.00002
NM_001909.5(CTSD):c.6G>A (p.Gln2=) rs1328097097 0.00002
NM_001909.5(CTSD):c.717G>A (p.Ala239=) rs368699900 0.00002
NM_006493.2(CLN5):c.117G>C (p.Ser39=) rs779934262 0.00002
NM_006493.2(CLN5):c.1A>C (p.Met1Leu) rs1268502139 0.00002
NM_006493.2(CLN5):c.57C>A (p.Gly19=) rs1057522685 0.00002
NM_006493.4(CLN5):c.1038C>T (p.Ile346=) rs571023549 0.00002
NM_006493.4(CLN5):c.1047T>A (p.Pro349=) rs775266818 0.00002
NM_006493.4(CLN5):c.105C>T (p.Leu35=) rs755024034 0.00002
NM_006493.4(CLN5):c.106G>C (p.Ala36Pro) rs778982551 0.00002
NM_006493.4(CLN5):c.173+16C>A rs780975343 0.00002
NM_006493.4(CLN5):c.333A>T (p.Gly111=) rs751611392 0.00002
NM_006493.4(CLN5):c.366C>T (p.Phe122=) rs374025536 0.00002
NM_006493.4(CLN5):c.57G>T (p.Ala19=) rs2034188115 0.00002
NM_006493.4(CLN5):c.627T>C (p.Tyr209=) rs763980789 0.00002
NM_006493.4(CLN5):c.654A>C (p.Pro218=) rs752406072 0.00002
NM_006493.4(CLN5):c.804T>C (p.Tyr268=) rs575331884 0.00002
NM_006493.4(CLN5):c.831G>T (p.Gly277=) rs749457168 0.00002
NM_006493.4(CLN5):c.915G>A (p.Leu305=) rs760172666 0.00002
NM_017882.3(CLN6):c.423C>T (p.Gly141=) rs1484448524 0.00002
NM_017882.3(CLN6):c.489C>T (p.Ile163=) rs748682605 0.00002
NM_017882.3(CLN6):c.582C>T (p.Ser194=) rs769007090 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.99C>T (p.Ser33=) rs752449801 0.00002
NM_018941.4(CLN8):c.111C>T (p.Gly37=) rs753430388 0.00002
NM_018941.4(CLN8):c.147G>A (p.Leu49=) rs555757531 0.00002
NM_018941.4(CLN8):c.222T>C (p.Gly74=) rs966203442 0.00002
NM_018941.4(CLN8):c.558G>A (p.Glu186=) rs769282149 0.00002
NM_018941.4(CLN8):c.660C>T (p.Asp220=) rs768136048 0.00002
NM_018941.4(CLN8):c.840G>C (p.Leu280=) rs762035651 0.00002
NM_025219.3(DNAJC5):c.162G>A (p.Ala54=) rs781164296 0.00002
NM_025219.3(DNAJC5):c.18G>A (p.Gln6=) rs148585496 0.00002
NM_025219.3(DNAJC5):c.261C>T (p.Ala87=) rs772397861 0.00002
NM_025219.3(DNAJC5):c.366C>T (p.Cys122=) rs895228886 0.00002
NM_025219.3(DNAJC5):c.444C>T (p.Phe148=) rs772254851 0.00002
NM_025219.3(DNAJC5):c.447C>T (p.Tyr149=) rs780478210 0.00002
NM_025219.3(DNAJC5):c.510G>A (p.Pro170=) rs369508682 0.00002
NM_025219.3(DNAJC5):c.525G>A (p.Pro175=) rs373237152 0.00002
NM_025219.3(DNAJC5):c.54C>T (p.His18=) rs770638590 0.00002
NC_000013.11:g.76991969C>A rs1439964955 0.00001
NC_000013.11:g.76992020C>G rs1408667627 0.00001
NC_000013.11:g.76992044C>T rs958702453 0.00001
NC_000013.11:g.76992047C>T rs751917173 0.00001
NC_000013.11:g.76992077C>A rs1347085017 0.00001
NM_001042432.2(CLN3):c.1005T>C (p.Ser335=) rs1188156280 0.00001
NM_001042432.2(CLN3):c.102T>C (p.His34=) rs774549218 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.1152G>C (p.Leu384=) rs762171432 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.1197+14G>A rs764711492 0.00001
NM_001042432.2(CLN3):c.1198-14C>G rs757911107 0.00001
NM_001042432.2(CLN3):c.120C>T (p.Gly40=) rs1457597143 0.00001
NM_001042432.2(CLN3):c.1233C>T (p.Ala411=) rs1220767949 0.00001
NM_001042432.2(CLN3):c.1242C>T (p.Ile414=) rs1064886 0.00001
NM_001042432.2(CLN3):c.1257G>T (p.Gly419=) rs756893993 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.147C>T (p.Asn49=) rs571216643 0.00001
NM_001042432.2(CLN3):c.207G>A (p.Ser69=) rs551476103 0.00001
NM_001042432.2(CLN3):c.223-10C>T rs1467517533 0.00001
NM_001042432.2(CLN3):c.294+12_294+14del rs777491825 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.33T>C (p.Phe11=) rs1555469504 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.381G>C (p.Arg127=) rs750889321 0.00001
NM_001042432.2(CLN3):c.387C>T (p.Leu129=) rs765776873 0.00001
NM_001042432.2(CLN3):c.399T>C (p.Ile133=) rs775739498 0.00001
NM_001042432.2(CLN3):c.461-16C>T rs753816100 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.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.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.677+19G>A rs367594758 0.00001
NM_001042432.2(CLN3):c.678-19G>A rs770134980 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.777G>A (p.Pro259=) rs751443804 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.837+12G>A rs763812265 0.00001
NM_001042432.2(CLN3):c.882C>T (p.Ala294=) rs766972077 0.00001
NM_001042432.2(CLN3):c.945C>T (p.His315=) rs747723206 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.963-17C>G rs746616613 0.00001
NM_001042432.2(CLN3):c.987C>T (p.Gly329=) rs777779035 0.00001
NM_001042432.2(CLN3):c.999C>A (p.Ser333=) rs1312281174 0.00001
NM_001042432.2(CLN3):c.99G>T (p.Ala33=) rs1342527040 0.00001
NM_001909.5(CTSD):c.1008C>T (p.Pro336=) rs769758232 0.00001
NM_001909.5(CTSD):c.1065G>A (p.Thr355=) rs377098800 0.00001
NM_001909.5(CTSD):c.1071+17G>A rs779757362 0.00001
NM_001909.5(CTSD):c.1072-9C>T rs1239405435 0.00001
NM_001909.5(CTSD):c.1083C>T (p.Ala361=) rs770325576 0.00001
NM_001909.5(CTSD):c.1104C>T (p.Ser368=) rs771647299 0.00001
NM_001909.5(CTSD):c.1128G>A (p.Pro376=) rs929763593 0.00001
NM_001909.5(CTSD):c.1140G>A (p.Gly380=) rs573523415 0.00001
NM_001909.5(CTSD):c.1158C>T (p.Gly386=) rs762076054 0.00001
NM_001909.5(CTSD):c.1170C>T (p.Ile390=) rs370985523 0.00001
NM_001909.5(CTSD):c.1209G>A (p.Arg403=) rs756019204 0.00001
NM_001909.5(CTSD):c.1221C>T (p.Ala407=) rs1439111867 0.00001
NM_001909.5(CTSD):c.150C>T (p.Gly50=) rs151292135 0.00001
NM_001909.5(CTSD):c.183C>T (p.Ala61=) rs370571459 0.00001
NM_001909.5(CTSD):c.204C>T (p.Pro68=) rs563052262 0.00001
NM_001909.5(CTSD):c.228+14C>A rs1845872918 0.00001
NM_001909.5(CTSD):c.229-19G>A rs368152533 0.00001
NM_001909.5(CTSD):c.229-20C>T rs748457876 0.00001
NM_001909.5(CTSD):c.237C>T (p.Tyr79=) rs996421254 0.00001
NM_001909.5(CTSD):c.24G>C (p.Pro8=) rs1478870280 0.00001
NM_001909.5(CTSD):c.345C>T (p.Ile115=) rs200875086 0.00001
NM_001909.5(CTSD):c.353-20C>T rs1845843686 0.00001
NM_001909.5(CTSD):c.366G>A (p.Lys122=) rs369424685 0.00001
NM_001909.5(CTSD):c.375C>T (p.Ser125=) rs987735225 0.00001
NM_001909.5(CTSD):c.408C>G (p.Thr136=) rs1060504644 0.00001
NM_001909.5(CTSD):c.472-15T>C rs758874267 0.00001
NM_001909.5(CTSD):c.489G>A (p.Ala163=) rs767476700 0.00001
NM_001909.5(CTSD):c.492G>A (p.Ser164=) rs577842448 0.00001
NM_001909.5(CTSD):c.51C>T (p.Pro17=) rs1275398258 0.00001
NM_001909.5(CTSD):c.54C>T (p.Ala18=) rs753164840 0.00001
NM_001909.5(CTSD):c.552G>A (p.Lys184=) rs765849046 0.00001
NM_001909.5(CTSD):c.60G>A (p.Ala20=) rs1225756370 0.00001
NM_001909.5(CTSD):c.621C>A (p.Ser207=) rs367978332 0.00001
NM_001909.5(CTSD):c.636G>T (p.Leu212=) rs567625495 0.00001
NM_001909.5(CTSD):c.63C>T (p.Leu21=) rs1021613206 0.00001
NM_001909.5(CTSD):c.651C>T (p.Asn217=) rs1300811596 0.00001
NM_001909.5(CTSD):c.654G>A (p.Leu218=) rs201551100 0.00001
NM_001909.5(CTSD):c.675C>T (p.Asp225=) rs752646929 0.00001
NM_001909.5(CTSD):c.69-11G>A rs199970909 0.00001
NM_001909.5(CTSD):c.704+13G>A rs1337575299 0.00001
NM_001909.5(CTSD):c.705-4C>T rs1057521968 0.00001
NM_001909.5(CTSD):c.705-8C>T rs754748489 0.00001
NM_001909.5(CTSD):c.726G>A (p.Gly242=) rs774246142 0.00001
NM_001909.5(CTSD):c.729T>C (p.Gly243=) rs774691757 0.00001
NM_001909.5(CTSD):c.827+14G>A rs952272760 0.00001
NM_001909.5(CTSD):c.827+19C>T rs565656268 0.00001
NM_001909.5(CTSD):c.827+20G>A rs763211820 0.00001
NM_001909.5(CTSD):c.827+9T>A rs757270638 0.00001
NM_001909.5(CTSD):c.828-14_828-13del rs796052395 0.00001
NM_001909.5(CTSD):c.843C>T (p.Ser281=) rs776321697 0.00001
NM_001909.5(CTSD):c.891C>T (p.Gly297=) rs755183661 0.00001
NM_001909.5(CTSD):c.933G>A (p.Leu311=) rs1428157464 0.00001
NM_001909.5(CTSD):c.972+10G>A rs531682785 0.00001
NM_001909.5(CTSD):c.973-10C>T rs542809677 0.00001
NM_001909.5(CTSD):c.973-14G>A rs1354741089 0.00001
NM_001909.5(CTSD):c.993G>A (p.Lys331=) rs1181418072 0.00001
NM_006493.2(CLN5):c.24G>A (p.Gly8=) rs751533177 0.00001
NM_006493.4(CLN5):c.-109T>A rs758802850 0.00001
NM_006493.4(CLN5):c.129G>A (p.Arg43=) rs746845935 0.00001
NM_006493.4(CLN5):c.173+14C>T rs757017201 0.00001
NM_006493.4(CLN5):c.173+7G>T rs1485751107 0.00001
NM_006493.4(CLN5):c.177C>T (p.Arg59=) rs1696247688 0.00001
NM_006493.4(CLN5):c.18C>T (p.Asp6=) rs1289582170 0.00001
NM_006493.4(CLN5):c.207T>C (p.Tyr69=) rs764103764 0.00001
NM_006493.4(CLN5):c.21G>T (p.Thr7=) rs1057521258 0.00001
NM_006493.4(CLN5):c.234A>C (p.Pro78=) rs998407254 0.00001
NM_006493.4(CLN5):c.24A>G (p.Ala8=) rs757756318 0.00001
NM_006493.4(CLN5):c.333A>G (p.Gly111=) rs751611392 0.00001
NM_006493.4(CLN5):c.339+11A>G rs755999018 0.00001
NM_006493.4(CLN5):c.342A>G (p.Lys114=) rs770149235 0.00001
NM_006493.4(CLN5):c.435A>G (p.Thr145=) rs1031492461 0.00001
NM_006493.4(CLN5):c.528G>A (p.Lys176=) rs776987374 0.00001
NM_006493.4(CLN5):c.565+15T>G rs751120160 0.00001
NM_006493.4(CLN5):c.565+20C>T rs780892019 0.00001
NM_006493.4(CLN5):c.618A>C (p.Gly206=) rs1240633550 0.00001
NM_006493.4(CLN5):c.69C>G (p.Arg23=) rs1270861626 0.00001
NM_006493.4(CLN5):c.724T>C (p.Leu242=) rs2034342969 0.00001
NM_006493.4(CLN5):c.925T>C (p.Leu309=) rs1316505069 0.00001
NM_006493.4(CLN5):c.93G>A (p.Ala31=) rs971404954 0.00001
NM_017882.3(CLN6):c.114C>G (p.Ala38=) rs1219136331 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.199-18C>A rs764354435 0.00001
NM_017882.3(CLN6):c.199-4G>A rs767945732 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.318C>T (p.Arg106=) rs2093206613 0.00001
NM_017882.3(CLN6):c.345G>A (p.Val115=) rs2093206410 0.00001
NM_017882.3(CLN6):c.348C>T (p.Ser116=) rs1231500700 0.00001
NM_017882.3(CLN6):c.396T>C (p.Ser132=) rs949403836 0.00001
NM_017882.3(CLN6):c.409C>T (p.Leu137=) rs982789458 0.00001
NM_017882.3(CLN6):c.487-14C>T rs371794062 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.549C>T (p.Ile183=) rs1384262878 0.00001
NM_017882.3(CLN6):c.558C>T (p.Phe186=) rs1305810285 0.00001
NM_017882.3(CLN6):c.58C>T (p.Leu20=) rs886042533 0.00001
NM_017882.3(CLN6):c.60G>A (p.Leu20=) rs1287378775 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.714C>T (p.Phe238=) rs772090270 0.00001
NM_017882.3(CLN6):c.732C>T (p.Leu244=) rs540227628 0.00001
NM_017882.3(CLN6):c.750C>T (p.Arg250=) rs537994561 0.00001
NM_017882.3(CLN6):c.763C>T (p.Leu255=) rs1195840845 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.885C>T (p.Tyr295=) rs374990526 0.00001
NM_017882.3(CLN6):c.90C>T (p.Gly30=) rs1254460869 0.00001
NM_017882.3(CLN6):c.918C>T (p.His306=) rs1347398610 0.00001
NM_017882.3(CLN6):c.93T>C (p.Ser31=) rs376510900 0.00001
NM_018941.4(CLN8):c.126C>T (p.Cys42=) rs192196274 0.00001
NM_018941.4(CLN8):c.151G>A (p.Ala51Thr) rs777453297 0.00001
NM_018941.4(CLN8):c.186C>T (p.Val62=) rs1057522154 0.00001
NM_018941.4(CLN8):c.18T>C (p.Asp6=) rs1464108080 0.00001
NM_018941.4(CLN8):c.21G>C (p.Gly7=) rs751762914 0.00001
NM_018941.4(CLN8):c.256C>T (p.Leu86=) rs755248868 0.00001
NM_018941.4(CLN8):c.27A>C (p.Thr9=) rs750274455 0.00001
NM_018941.4(CLN8):c.324G>A (p.Thr108=) rs148124161 0.00001
NM_018941.4(CLN8):c.397T>C (p.Leu133=) rs1419342894 0.00001
NM_018941.4(CLN8):c.408T>A (p.Val136=) rs535963507 0.00001
NM_018941.4(CLN8):c.543+9A>G rs982453047 0.00001
NM_018941.4(CLN8):c.555C>T (p.Ser185=) rs145929862 0.00001
NM_018941.4(CLN8):c.562C>T (p.Leu188=) rs587780318 0.00001
NM_018941.4(CLN8):c.609C>T (p.Cys203=) rs765382699 0.00001
NM_018941.4(CLN8):c.720G>A (p.Leu240=) rs779630521 0.00001
NM_018941.4(CLN8):c.741A>G (p.Pro247=) rs1470652667 0.00001
NM_018941.4(CLN8):c.753T>C (p.His251=) rs1801680845 0.00001
NM_018941.4(CLN8):c.75C>T (p.Ser25=) rs1276904511 0.00001
NM_018941.4(CLN8):c.780G>A (p.Pro260=) rs761984333 0.00001
NM_018941.4(CLN8):c.78G>A (p.Thr26=) rs933753788 0.00001
NM_018941.4(CLN8):c.795C>T (p.Phe265=) rs760610632 0.00001
NM_018941.4(CLN8):c.804A>C (p.Pro268=) rs746305311 0.00001
NM_018941.4(CLN8):c.831C>T (p.Asn277=) rs200083273 0.00001
NM_018941.4(CLN8):c.843G>A (p.Leu281=) rs367703234 0.00001
NM_018941.4(CLN8):c.846G>A (p.Arg282=) rs1801686237 0.00001
NM_018941.4(CLN8):c.849G>A (p.Lys283=) rs753758120 0.00001
NM_018941.4(CLN8):c.858A>G (p.Pro286=) rs764673534 0.00001
NM_018941.4(CLN8):c.87C>T (p.Val29=) rs753737213 0.00001
NM_018941.4(CLN8):c.90T>C (p.Ala30=) rs376382403 0.00001
NM_018941.4(CLN8):c.9T>C (p.Pro3=) rs773997032 0.00001
NM_025219.3(DNAJC5):c.126T>C (p.Tyr42=) rs775734607 0.00001
NM_025219.3(DNAJC5):c.159C>T (p.Ala53=) rs779503067 0.00001
NM_025219.3(DNAJC5):c.192C>T (p.His64=) rs1351269667 0.00001
NM_025219.3(DNAJC5):c.207C>T (p.Asp69=) rs760881795 0.00001
NM_025219.3(DNAJC5):c.225C>T (p.Ile75=) rs376163421 0.00001
NM_025219.3(DNAJC5):c.25C>T (p.Leu9=) rs1184661048 0.00001
NM_025219.3(DNAJC5):c.297C>T (p.Phe99=) rs776598152 0.00001
NM_025219.3(DNAJC5):c.306C>T (p.Ser102=) rs770247745 0.00001
NM_025219.3(DNAJC5):c.321+14G>A rs367766641 0.00001
NM_025219.3(DNAJC5):c.321+9G>A rs763367010 0.00001
NM_025219.3(DNAJC5):c.322-7C>T rs765086324 0.00001
NM_025219.3(DNAJC5):c.339C>T (p.Cys113=) rs886043295 0.00001
NM_025219.3(DNAJC5):c.351G>A (p.Thr117=) rs775067598 0.00001
NM_025219.3(DNAJC5):c.429C>T (p.Gly143=) rs753956759 0.00001
NM_025219.3(DNAJC5):c.46T>C (p.Leu16=) rs371819808 0.00001
NM_025219.3(DNAJC5):c.480G>A (p.Gln160=) rs1358914493 0.00001
NM_025219.3(DNAJC5):c.493+10C>T rs751404516 0.00001
NM_025219.3(DNAJC5):c.493+11G>A rs760774827 0.00001
NM_025219.3(DNAJC5):c.494-17G>A rs1433329405 0.00001
NM_025219.3(DNAJC5):c.494-18T>C rs755327268 0.00001
NM_025219.3(DNAJC5):c.507G>A (p.Thr169=) rs748875387 0.00001
NM_025219.3(DNAJC5):c.555A>G (p.Thr185=) rs1437414625 0.00001
NM_025219.3(DNAJC5):c.561C>T (p.Asp187=) rs776807695 0.00001
NM_025219.3(DNAJC5):c.60T>C (p.Leu20=) rs745419250 0.00001
NC_000013.11:g.76991960G>A rs1389856811
NC_000013.11:g.76991966G>A rs949252072
NC_000013.11:g.76991969C>G rs1439964955
NC_000013.11:g.76991993C>T rs1259746826
NC_000013.11:g.76992014G>C rs1231942714
NC_000013.11:g.76992020C>T rs1408667627
NC_000013.11:g.76992023A>C rs7987664
NC_000013.11:g.76992026G>T rs2154034204
NC_000013.11:g.76992029G>C rs2154034206
NC_000013.11:g.76992050A>C rs1447037153
NC_000013.11:g.76992056G>A rs2154034220
NC_000013.11:g.76992059G>T rs1413474600
NC_000013.11:g.76992065C>G rs2154034221
NC_000013.11:g.76992068G>T rs779934262
NM_001042432.2(CLN3):c.1017C>T (p.Cys339=) rs768479701
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.1048C>T (p.Leu350=) rs1319505147
NM_001042432.2(CLN3):c.1050G>C (p.Leu350=)
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+20C>T
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.1065C>T (p.Asn355=) rs1567254120
NM_001042432.2(CLN3):c.1071G>A (p.Val357=)
NM_001042432.2(CLN3):c.1071G>T (p.Val357=) rs146467602
NM_001042432.2(CLN3):c.1086C>T (p.Asp362=) rs376907245
NM_001042432.2(CLN3):c.1089G>T (p.Val363=) rs2141694310
NM_001042432.2(CLN3):c.1107A>G (p.Pro369=)
NM_001042432.2(CLN3):c.1110C>T (p.Ser370=)
NM_001042432.2(CLN3):c.1113C>T (p.Ile371=) rs2141694259
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.1143G>A (p.Glu381=)
NM_001042432.2(CLN3):c.1146G>T (p.Gly382=) rs1567253962
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.1161A>G (p.Ala387=) rs2141694138
NM_001042432.2(CLN3):c.1164C>A (p.Ala388=) rs772463617
NM_001042432.2(CLN3):c.1173C>T (p.Asn391=) rs1334200732
NM_001042432.2(CLN3):c.117G>A (p.Val39=) rs2141721859
NM_001042432.2(CLN3):c.1185C>T (p.Asn395=) rs747968377
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+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.1198-4C>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.120C>G (p.Gly40=)
NM_001042432.2(CLN3):c.1215G>C (p.Arg405=) rs2141693673
NM_001042432.2(CLN3):c.1236C>T (p.Thr412=)
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+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.1266G>A (p.Leu422=)
NM_001042432.2(CLN3):c.1272G>A (p.Gly424=) rs2141693473
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.1288C>T (p.Leu430=) rs2141693434
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.156T>C (p.Tyr52=) rs758454511
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.177C>T (p.Ala59=) rs1266595846
NM_001042432.2(CLN3):c.18C>A (p.Gly6=) rs2141722748
NM_001042432.2(CLN3):c.204A>G (p.Thr68=) rs1001999703
NM_001042432.2(CLN3):c.213C>T (p.Asn71=) rs1460944418
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+20C>T
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.237A>G (p.Pro79=) rs2141717144
NM_001042432.2(CLN3):c.243G>C (p.Pro81=) rs779165392
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.261A>T (p.Ser87=) rs2046262190
NM_001042432.2(CLN3):c.264A>G (p.Ser88=) rs751321507
NM_001042432.2(CLN3):c.273C>T (p.Asp91=) rs1213121886
NM_001042432.2(CLN3):c.288T>A (p.Ser96=) rs1555469051
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+7A>G rs2141716762
NM_001042432.2(CLN3):c.294+8C>T
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.306G>A (p.Leu102=)
NM_001042432.2(CLN3):c.312C>T (p.Asp104=) rs1596563212
NM_001042432.2(CLN3):c.321C>A (p.Pro107=)
NM_001042432.2(CLN3):c.324A>G (p.Thr108=) rs2046245530
NM_001042432.2(CLN3):c.354C>T (p.Gly118=)
NM_001042432.2(CLN3):c.360C>T (p.His120=)
NM_001042432.2(CLN3):c.366G>A (p.Leu122=)
NM_001042432.2(CLN3):c.36G>C (p.Ser12=)
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+7G>A rs2141714955
NM_001042432.2(CLN3):c.374+7G>C rs2141714955
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.375-4del rs2141714611
NM_001042432.2(CLN3):c.375-5C>G rs751293136
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.393T>C (p.Ser131=) rs794727850
NM_001042432.2(CLN3):c.396G>A (p.Gly132=)
NM_001042432.2(CLN3):c.411A>G (p.Gly137=) rs2141714445
NM_001042432.2(CLN3):c.414C>T (p.Ser138=) rs772960606
NM_001042432.2(CLN3):c.420C>A (p.Val140=)
NM_001042432.2(CLN3):c.423G>C (p.Leu141=) rs1426849822
NM_001042432.2(CLN3):c.42C>A (p.Ser14=)
NM_001042432.2(CLN3):c.447G>A (p.Gly149=)
NM_001042432.2(CLN3):c.450C>T (p.Thr150=)
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+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+20T>A
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.461-4C>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.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.483A>G (p.Ser161=)
NM_001042432.2(CLN3):c.492T>C (p.Leu164=)
NM_001042432.2(CLN3):c.501C>T (p.Val167=) rs2141712899
NM_001042432.2(CLN3):c.510C>T (p.Leu170=)
NM_001042432.2(CLN3):c.513C>T (p.Ser171=) rs1384593542
NM_001042432.2(CLN3):c.522C>T (p.Ala174=)
NM_001042432.2(CLN3):c.528C>T (p.Tyr176=)
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.534-17T>C
NM_001042432.2(CLN3):c.534-20T>A rs1209961868
NM_001042432.2(CLN3):c.534-5C>T
NM_001042432.2(CLN3):c.537C>G (p.Ala179=) rs147667964
NM_001042432.2(CLN3):c.540G>T (p.Val180=)
NM_001042432.2(CLN3):c.564T>C (p.Thr188=)
NM_001042432.2(CLN3):c.564T>G (p.Thr188=)
NM_001042432.2(CLN3):c.573T>C (p.Ala191=)
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>T (p.Leu197=) rs753705869
NM_001042432.2(CLN3):c.591G>C (p.Leu197=) rs764082661
NM_001042432.2(CLN3):c.594C>T (p.Ser198=)
NM_001042432.2(CLN3):c.609C>G (p.Thr203=) rs2141712284
NM_001042432.2(CLN3):c.60C>T (p.Val20=)
NM_001042432.2(CLN3):c.618C>T (p.Gly206=) rs2141712243
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.63G>A (p.Pro21=)
NM_001042432.2(CLN3):c.642G>A (p.Leu214=)
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.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.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.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+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.684C>T (p.Phe228=)
NM_001042432.2(CLN3):c.688T>C (p.Leu230=) rs746075287
NM_001042432.2(CLN3):c.696A>G (p.Thr232=)
NM_001042432.2(CLN3):c.6A>G (p.Gly2=)
NM_001042432.2(CLN3):c.702T>G (p.Pro234=)
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.744A>C (p.Ala248=) rs1446036630
NM_001042432.2(CLN3):c.747C>T (p.Ala249=)
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.774C>T (p.Ala258=)
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+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.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.791-5T>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.798C>T (p.Ser266=) rs2141704238
NM_001042432.2(CLN3):c.804C>T (p.Ser268=) rs773546150
NM_001042432.2(CLN3):c.813T>A (p.Leu271=)
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+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.846G>A (p.Leu282=) rs2141703882
NM_001042432.2(CLN3):c.855T>C (p.Ile285=)
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.870A>G (p.Val290=) rs1555468214
NM_001042432.2(CLN3):c.882C>G (p.Ala294=)
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+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+9G>C rs1191183887
NM_001042432.2(CLN3):c.907-17T>A
NM_001042432.2(CLN3):c.907-18G>A
NM_001042432.2(CLN3):c.907-4G>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.918C>G (p.Leu306=)
NM_001042432.2(CLN3):c.930C>T (p.Asn310=) rs2141703388
NM_001042432.2(CLN3):c.936C>T (p.Ser312=) rs762896453
NM_001042432.2(CLN3):c.937C>T (p.Leu313=)
NM_001042432.2(CLN3):c.962+10G>A rs1409669851
NM_001042432.2(CLN3):c.962+18A>G
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.963-5C>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.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.990C>G (p.Val330=) rs2141702816
NM_001042432.2(CLN3):c.996C>T (p.Ala332=)
NM_001042432.2(CLN3):c.99G>C (p.Ala33=)
NM_001042432.2(CLN3):c.9C>T (p.Gly3=) rs2141722774
NM_001909.5(CTSD):c.1002C>T (p.Thr334=)
NM_001909.5(CTSD):c.1011G>A (p.Ala337=)
NM_001909.5(CTSD):c.1011G>T (p.Ala337=)
NM_001909.5(CTSD):c.1017A>G (p.Thr339=) rs1845760192
NM_001909.5(CTSD):c.1017A>T (p.Thr339=)
NM_001909.5(CTSD):c.1023G>A (p.Lys341=) rs111849172
NM_001909.5(CTSD):c.1029A>G (p.Gly343=)
NM_001909.5(CTSD):c.1047G>A (p.Leu349=) rs2133657544
NM_001909.5(CTSD):c.1050C>T (p.Ser350=)
NM_001909.5(CTSD):c.1056G>A (p.Glu352=)
NM_001909.5(CTSD):c.105C>T (p.Thr35=) rs2133666357
NM_001909.5(CTSD):c.1068C>G (p.Leu356=)
NM_001909.5(CTSD):c.1071+10C>A rs2133657508
NM_001909.5(CTSD):c.1071+12A>T rs113936232
NM_001909.5(CTSD):c.1071+13_1072-57del
NM_001909.5(CTSD):c.1071+15G>A
NM_001909.5(CTSD):c.1071+16G>A
NM_001909.5(CTSD):c.1071+16G>T
NM_001909.5(CTSD):c.1071+17G>T
NM_001909.5(CTSD):c.1072-11G>A
NM_001909.5(CTSD):c.1072-11G>C rs143631836
NM_001909.5(CTSD):c.1072-12G>C
NM_001909.5(CTSD):c.1072-15C>G
NM_001909.5(CTSD):c.1072-17C>T
NM_001909.5(CTSD):c.1072-18C>T
NM_001909.5(CTSD):c.1072-5C>T rs1184773829
NM_001909.5(CTSD):c.1072-7G>T rs149019571
NM_001909.5(CTSD):c.1072-8C>T
NM_001909.5(CTSD):c.1077G>C (p.Ser359=)
NM_001909.5(CTSD):c.1077G>T (p.Ser359=) rs138940129
NM_001909.5(CTSD):c.111G>C (p.Ser37=) rs535140505
NM_001909.5(CTSD):c.1125C>T (p.Ile375=)
NM_001909.5(CTSD):c.1128G>C (p.Pro376=)
NM_001909.5(CTSD):c.1146C>G (p.Leu382=) rs1030148662
NM_001909.5(CTSD):c.114G>A (p.Glu38=)
NM_001909.5(CTSD):c.1161C>T (p.Asp387=)
NM_001909.5(CTSD):c.1164C>G (p.Val388=)
NM_001909.5(CTSD):c.1164C>T (p.Val388=)
NM_001909.5(CTSD):c.1176C>A (p.Arg392=)
NM_001909.5(CTSD):c.117T>C (p.Val39=)
NM_001909.5(CTSD):c.1182C>T (p.Tyr394=)
NM_001909.5(CTSD):c.1185T>C (p.Thr395=)
NM_001909.5(CTSD):c.1185T>G (p.Thr395=) rs1565018468
NM_001909.5(CTSD):c.1188G>A (p.Val396=)
NM_001909.5(CTSD):c.1194C>T (p.Asp398=)
NM_001909.5(CTSD):c.1206C>T (p.Asn402=)
NM_001909.5(CTSD):c.120G>A (p.Gly40=)
NM_001909.5(CTSD):c.1218C>T (p.Phe406=)
NM_001909.5(CTSD):c.1236C>G (p.Leu412=) rs1565018392
NM_001909.5(CTSD):c.1236C>T (p.Leu412=)
NM_001909.5(CTSD):c.1239G>A (p.Ter413=)
NM_001909.5(CTSD):c.12C>T (p.Ser4=)
NM_001909.5(CTSD):c.141T>C (p.Ile47=)
NM_001909.5(CTSD):c.15C>T (p.Ser5=)
NM_001909.5(CTSD):c.162G>A (p.Lys54=)
NM_001909.5(CTSD):c.165C>T (p.Tyr55=)
NM_001909.5(CTSD):c.168C>G (p.Ser56=)
NM_001909.5(CTSD):c.177G>A (p.Val59=)
NM_001909.5(CTSD):c.180A>G (p.Pro60=) rs749805002
NM_001909.5(CTSD):c.189C>G (p.Thr63=) rs114051835
NM_001909.5(CTSD):c.192G>A (p.Glu64=)
NM_001909.5(CTSD):c.195G>T (p.Gly65=) rs2133666196
NM_001909.5(CTSD):c.19C>T (p.Leu7=) rs1470191996
NM_001909.5(CTSD):c.204C>G (p.Pro68=)
NM_001909.5(CTSD):c.207G>A (p.Glu69=)
NM_001909.5(CTSD):c.21G>C (p.Leu7=)
NM_001909.5(CTSD):c.228+17A>G
NM_001909.5(CTSD):c.228+19C>A
NM_001909.5(CTSD):c.228+7A>T
NM_001909.5(CTSD):c.228+8T>C
NM_001909.5(CTSD):c.229-12G>A rs767539066
NM_001909.5(CTSD):c.229-12G>C
NM_001909.5(CTSD):c.229-18del
NM_001909.5(CTSD):c.229-8C>T
NM_001909.5(CTSD):c.243G>C (p.Gly81=)
NM_001909.5(CTSD):c.255C>T (p.Ile85=)
NM_001909.5(CTSD):c.261G>C (p.Thr87=)
NM_001909.5(CTSD):c.264C>T (p.Pro88=)
NM_001909.5(CTSD):c.267C>A (p.Pro89=)
NM_001909.5(CTSD):c.267C>T (p.Pro89=)
NM_001909.5(CTSD):c.276C>T (p.Phe92=)
NM_001909.5(CTSD):c.27C>T (p.Leu9=)
NM_001909.5(CTSD):c.285C>T (p.Val95=) rs1845849997
NM_001909.5(CTSD):c.300C>T (p.Ser100=) rs1417163449
NM_001909.5(CTSD):c.306C>T (p.Asn102=) rs1258957118
NM_001909.5(CTSD):c.307C>T (p.Leu103=)
NM_001909.5(CTSD):c.309G>T (p.Leu103=)
NM_001909.5(CTSD):c.318C>T (p.Pro106=) rs1845849397
NM_001909.5(CTSD):c.330C>T (p.Cys110=)
NM_001909.5(CTSD):c.342C>T (p.Asp114=)
NM_001909.5(CTSD):c.352+10G>A rs775828680
NM_001909.5(CTSD):c.352+10G>C rs775828680
NM_001909.5(CTSD):c.352+12A>G
NM_001909.5(CTSD):c.352+16T>C rs2133664139
NM_001909.5(CTSD):c.353-10C>T
NM_001909.5(CTSD):c.353-14G>C
NM_001909.5(CTSD):c.353-15T>C
NM_001909.5(CTSD):c.353-4G>A rs1565022058
NM_001909.5(CTSD):c.353-8C>G
NM_001909.5(CTSD):c.353-8C>T rs760934292
NM_001909.5(CTSD):c.353-9C>T rs1369399012
NM_001909.5(CTSD):c.360C>T (p.His120=) rs1456005145
NM_001909.5(CTSD):c.369C>T (p.Tyr123=)
NM_001909.5(CTSD):c.384C>T (p.Ser128=)
NM_001909.5(CTSD):c.390C>T (p.Thr130=)
NM_001909.5(CTSD):c.396G>A (p.Val132=) rs2133663597
NM_001909.5(CTSD):c.420C>T (p.Ile140=)
NM_001909.5(CTSD):c.429C>T (p.Gly143=) rs755085691
NM_001909.5(CTSD):c.468G>A (p.Val156=)
NM_001909.5(CTSD):c.471+17C>A
NM_001909.5(CTSD):c.471+8C>T
NM_001909.5(CTSD):c.472-16_472-15del
NM_001909.5(CTSD):c.472-17T>G
NM_001909.5(CTSD):c.472-19A>C rs2133662179
NM_001909.5(CTSD):c.472-20G>C
NM_001909.5(CTSD):c.472-6C>A
NM_001909.5(CTSD):c.474G>C (p.Val158=)
NM_001909.5(CTSD):c.489G>T (p.Ala163=)
NM_001909.5(CTSD):c.495A>G (p.Ser165=)
NM_001909.5(CTSD):c.498C>T (p.Ala166=)
NM_001909.5(CTSD):c.507G>A (p.Leu169=)
NM_001909.5(CTSD):c.507G>C (p.Leu169=)
NM_001909.5(CTSD):c.537T>C (p.Phe179=) rs11555045
NM_001909.5(CTSD):c.558A>C (p.Pro186=)
NM_001909.5(CTSD):c.570C>T (p.Phe190=) rs1325097000
NM_001909.5(CTSD):c.573C>T (p.Ile191=)
NM_001909.5(CTSD):c.585C>T (p.Phe195=)
NM_001909.5(CTSD):c.594C>T (p.Ile198=)
NM_001909.5(CTSD):c.621C>T (p.Ser207=) rs367978332
NM_001909.5(CTSD):c.634C>T (p.Leu212=)
NM_001909.5(CTSD):c.639C>A (p.Pro213=) rs146073498
NM_001909.5(CTSD):c.639C>T (p.Pro213=) rs146073498
NM_001909.5(CTSD):c.63C>G (p.Leu21=) rs1021613206
NM_001909.5(CTSD):c.642C>T (p.Val214=)
NM_001909.5(CTSD):c.645C>T (p.Phe215=)
NM_001909.5(CTSD):c.654G>T (p.Leu218=)
NM_001909.5(CTSD):c.666G>A (p.Lys222=) rs2133661919
NM_001909.5(CTSD):c.669G>A (p.Leu223=)
NM_001909.5(CTSD):c.672G>A (p.Val224=)
NM_001909.5(CTSD):c.68+10C>G rs760082760
NM_001909.5(CTSD):c.68+11_68+12del
NM_001909.5(CTSD):c.68+16C>T
NM_001909.5(CTSD):c.68+18G>A
NM_001909.5(CTSD):c.68+19G>A
NM_001909.5(CTSD):c.68+19G>C
NM_001909.5(CTSD):c.69-11G>C rs199970909
NM_001909.5(CTSD):c.69-14C>T
NM_001909.5(CTSD):c.69-15A>G
NM_001909.5(CTSD):c.69-16G>C rs377703110
NM_001909.5(CTSD):c.69-17C>T rs371858126
NM_001909.5(CTSD):c.69-18C>T
NM_001909.5(CTSD):c.69-19C>T
NM_001909.5(CTSD):c.696C>T (p.Tyr232=)
NM_001909.5(CTSD):c.704+10T>C
NM_001909.5(CTSD):c.704+11G>A
NM_001909.5(CTSD):c.704+17C>T
NM_001909.5(CTSD):c.704+19T>C
NM_001909.5(CTSD):c.704+7G>A rs748547852
NM_001909.5(CTSD):c.704+7G>T
NM_001909.5(CTSD):c.704+9G>C rs2133661868
NM_001909.5(CTSD):c.704+9G>T
NM_001909.5(CTSD):c.705-15C>T
NM_001909.5(CTSD):c.705-63_705-11del rs2133660021
NM_001909.5(CTSD):c.705-7C>T
NM_001909.5(CTSD):c.708C>T (p.Asp236=)
NM_001909.5(CTSD):c.717G>C (p.Ala239=)
NM_001909.5(CTSD):c.717G>T (p.Ala239=)
NM_001909.5(CTSD):c.733C>T (p.Leu245=)
NM_001909.5(CTSD):c.741G>C (p.Leu247=)
NM_001909.5(CTSD):c.753C>T (p.Asp251=) rs2133659952
NM_001909.5(CTSD):c.756C>T (p.Ser252=)
NM_001909.5(CTSD):c.759G>A (p.Lys253=) rs2133659945
NM_001909.5(CTSD):c.768G>A (p.Lys256=)
NM_001909.5(CTSD):c.775C>T (p.Leu259=)
NM_001909.5(CTSD):c.780C>G (p.Ser260=)
NM_001909.5(CTSD):c.780C>T (p.Ser260=) rs1404000220
NM_001909.5(CTSD):c.795C>T (p.Thr265=)
NM_001909.5(CTSD):c.804C>T (p.Ala268=)
NM_001909.5(CTSD):c.816C>A (p.Val272=) rs1554962441
NM_001909.5(CTSD):c.816C>T (p.Val272=)
NM_001909.5(CTSD):c.827+14_827+15delinsTT rs2133659869
NM_001909.5(CTSD):c.827+17G>A
NM_001909.5(CTSD):c.827+17G>C
NM_001909.5(CTSD):c.827+19del
NM_001909.5(CTSD):c.827+20G>T rs763211820
NM_001909.5(CTSD):c.828-15C>G
NM_001909.5(CTSD):c.828-16C>T
NM_001909.5(CTSD):c.828-20C>T
NM_001909.5(CTSD):c.828-6C>G rs1222306629
NM_001909.5(CTSD):c.828-7C>T
NM_001909.5(CTSD):c.828-8C>T
NM_001909.5(CTSD):c.828-9T>G
NM_001909.5(CTSD):c.831G>A (p.Val277=) rs764812657
NM_001909.5(CTSD):c.849G>A (p.Leu283=) rs1014674908
NM_001909.5(CTSD):c.84G>A (p.Lys28=)
NM_001909.5(CTSD):c.873G>A (p.Glu291=)
NM_001909.5(CTSD):c.879T>A (p.Ile293=)
NM_001909.5(CTSD):c.885C>T (p.Asp295=)
NM_001909.5(CTSD):c.888A>C (p.Thr296=)
NM_001909.5(CTSD):c.894T>G (p.Thr298=)
NM_001909.5(CTSD):c.909C>T (p.Gly303=)
NM_001909.5(CTSD):c.918T>C (p.Asp306=) rs2133657880
NM_001909.5(CTSD):c.924G>A (p.Val308=) rs1554962286
NM_001909.5(CTSD):c.942C>T (p.Ala314=)
NM_001909.5(CTSD):c.972+10_972+15del
NM_001909.5(CTSD):c.972+10_972+15dup
NM_001909.5(CTSD):c.972+12G>A
NM_001909.5(CTSD):c.972+13G>A
NM_001909.5(CTSD):c.972+14G>A rs752075136
NM_001909.5(CTSD):c.972+14G>C rs752075136
NM_001909.5(CTSD):c.972+14G>T
NM_001909.5(CTSD):c.972+15C>A
NM_001909.5(CTSD):c.972+15C>T
NM_001909.5(CTSD):c.972+18G>A
NM_001909.5(CTSD):c.972+7G>C
NM_001909.5(CTSD):c.972+9C>G rs746243061
NM_001909.5(CTSD):c.973-12G>A
NM_001909.5(CTSD):c.973-12G>C
NM_001909.5(CTSD):c.973-13T>C
NM_001909.5(CTSD):c.973-15T>C
NM_001909.5(CTSD):c.973-18T>G
NM_001909.5(CTSD):c.973-20A>G
NM_001909.5(CTSD):c.973-7C>T
NM_001909.5(CTSD):c.973-8C>A rs886048064
NM_001909.5(CTSD):c.973-9C>T
NM_001909.5(CTSD):c.996G>T (p.Val332=)
NM_001909.5(CTSD):c.999C>A (p.Ser333=) rs755867394
NM_001909.5(CTSD):c.999C>T (p.Ser333=)
NM_006493.2(CLN5):c.102G>A (p.Pro34=)
NM_006493.2(CLN5):c.102G>C (p.Pro34=)
NM_006493.2(CLN5):c.111G>A (p.Gln37=) rs1593906853
NM_006493.2(CLN5):c.117G>A (p.Ser39=)
NM_006493.2(CLN5):c.120A>G (p.Arg40=)
NM_006493.2(CLN5):c.129A>G (p.Gly43=)
NM_006493.2(CLN5):c.15G>C (p.Leu5=)
NM_006493.2(CLN5):c.19T>C (p.Leu7=)
NM_006493.2(CLN5):c.24G>T (p.Gly8=)
NM_006493.2(CLN5):c.2T>A (p.Met1Lys) rs201615354
NM_006493.2(CLN5):c.33T>C (p.Ser11=)
NM_006493.2(CLN5):c.36A>C (p.Gly12=)
NM_006493.2(CLN5):c.39T>C (p.Ala13=)
NM_006493.2(CLN5):c.45G>A (p.Ala15=)
NM_006493.2(CLN5):c.45G>C (p.Ala15=)
NM_006493.2(CLN5):c.48G>A (p.Gln16=)
NM_006493.2(CLN5):c.51G>A (p.Gly17=)
NM_006493.2(CLN5):c.51G>C (p.Gly17=) rs763032153
NM_006493.2(CLN5):c.51G>T (p.Gly17=)
NM_006493.2(CLN5):c.6C>G (p.Arg2=)
NM_006493.2(CLN5):c.78G>A (p.Ala26=)
NM_006493.4(CLN5):c.-10G>C rs1470454519
NM_006493.4(CLN5):c.-13T>C rs2034184700
NM_006493.4(CLN5):c.-1G>C rs2154034238
NM_006493.4(CLN5):c.-3C>T rs1593906921
NM_006493.4(CLN5):c.-7C>T
NM_006493.4(CLN5):c.1038C>A (p.Ile346=)
NM_006493.4(CLN5):c.1053A>G (p.Arg351=)
NM_006493.4(CLN5):c.105C>G (p.Leu35=)
NM_006493.4(CLN5):c.1065C>A (p.Leu355=) rs1593915385
NM_006493.4(CLN5):c.1072T>C (p.Leu358=) rs2154035221
NM_006493.4(CLN5):c.114T>A (p.Val38=)
NM_006493.4(CLN5):c.114T>C (p.Val38=) rs1453178211
NM_006493.4(CLN5):c.129G>C (p.Arg43=)
NM_006493.4(CLN5):c.132C>T (p.Val44=)
NM_006493.4(CLN5):c.135G>A (p.Ser45=)
NM_006493.4(CLN5):c.141C>A (p.Ile47=) rs2034191533
NM_006493.4(CLN5):c.141C>T (p.Ile47=)
NM_006493.4(CLN5):c.147C>T (p.Ser49=)
NM_006493.4(CLN5):c.150G>C (p.Arg50=) rs2034192027
NM_006493.4(CLN5):c.150G>T (p.Arg50=)
NM_006493.4(CLN5):c.153C>G (p.Arg51=) rs909356586
NM_006493.4(CLN5):c.156C>T (p.His52=)
NM_006493.4(CLN5):c.15A>G (p.Val5=) rs2034185809
NM_006493.4(CLN5):c.162G>A (p.Pro54=) rs754303449
NM_006493.4(CLN5):c.165G>A (p.Val55=)
NM_006493.4(CLN5):c.173+11C>T
NM_006493.4(CLN5):c.173+12G>A
NM_006493.4(CLN5):c.173+12G>C rs781182241
NM_006493.4(CLN5):c.173+13G>T
NM_006493.4(CLN5):c.173+13GC[6] rs751801723
NM_006493.4(CLN5):c.173+15G>C
NM_006493.4(CLN5):c.173+16C>T
NM_006493.4(CLN5):c.173+20C>T
NM_006493.4(CLN5):c.173+7GCG[2] rs2154034294
NM_006493.4(CLN5):c.173+9G>A rs931635211
NM_006493.4(CLN5):c.173+9G>C
NM_006493.4(CLN5):c.173+9G>T rs931635211
NM_006493.4(CLN5):c.174-19G>A
NM_006493.4(CLN5):c.174-20G>A
NM_006493.4(CLN5):c.174-3del rs777686161
NM_006493.4(CLN5):c.174-5A>G
NM_006493.4(CLN5):c.174-6T>C rs2154034620
NM_006493.4(CLN5):c.174-8_174-6del
NM_006493.4(CLN5):c.174-9_174-6del
NM_006493.4(CLN5):c.189T>C (p.Arg63=) rs2154034624
NM_006493.4(CLN5):c.192A>G (p.Pro64=)
NM_006493.4(CLN5):c.204T>G (p.Pro68=) rs2154034627
NM_006493.4(CLN5):c.213A>G (p.Gln71=)
NM_006493.4(CLN5):c.21G>A (p.Thr7=) rs1057521258
NM_006493.4(CLN5):c.21G>C (p.Thr7=) rs1057521258
NM_006493.4(CLN5):c.222T>C (p.Tyr74=) rs1389509356
NM_006493.4(CLN5):c.228C>T (p.Phe76=)
NM_006493.4(CLN5):c.231T>C (p.Cys77=)
NM_006493.4(CLN5):c.240C>T (p.Gly80=)
NM_006493.4(CLN5):c.24A>C (p.Ala8=) rs757756318
NM_006493.4(CLN5):c.270T>C (p.Asp90=) rs898862493
NM_006493.4(CLN5):c.289T>C (p.Leu97=)
NM_006493.4(CLN5):c.303A>G (p.Val101=)
NM_006493.4(CLN5):c.303A>T (p.Val101=) rs2154034645
NM_006493.4(CLN5):c.30C>A (p.Gly10=) rs756651200
NM_006493.4(CLN5):c.30C>G (p.Gly10=)
NM_006493.4(CLN5):c.312T>C (p.Phe104=)
NM_006493.4(CLN5):c.321A>G (p.Gly107=)
NM_006493.4(CLN5):c.327C>A (p.Leu109=)
NM_006493.4(CLN5):c.336C>T (p.His112=) rs2034245418
NM_006493.4(CLN5):c.337T>C (p.Leu113=)
NM_006493.4(CLN5):c.339+13C>T rs2154034651
NM_006493.4(CLN5):c.339+15T>C
NM_006493.4(CLN5):c.339+17G>A
NM_006493.4(CLN5):c.339+19C>A
NM_006493.4(CLN5):c.339+7A>G
NM_006493.4(CLN5):c.33C>G (p.Ala11=) rs530381028
NM_006493.4(CLN5):c.33C>T (p.Ala11=)
NM_006493.4(CLN5):c.340-12G>A rs1416088608
NM_006493.4(CLN5):c.340-8T>C rs2154034704
NM_006493.4(CLN5):c.351T>C (p.His117=)
NM_006493.4(CLN5):c.354T>C (p.Asp118=)
NM_006493.4(CLN5):c.375A>G (p.Thr125=)
NM_006493.4(CLN5):c.381T>A (p.Thr127=) rs34481987
NM_006493.4(CLN5):c.387G>A (p.Lys129=)
NM_006493.4(CLN5):c.393C>T (p.Tyr131=)
NM_006493.4(CLN5):c.411A>G (p.Glu137=)
NM_006493.4(CLN5):c.426C>G (p.Gly142=) rs2034259868
NM_006493.4(CLN5):c.441C>G (p.Pro147=)
NM_006493.4(CLN5):c.447C>T (p.Leu149=) rs1593911107
NM_006493.4(CLN5):c.450A>G (p.Arg150=)
NM_006493.4(CLN5):c.45G>C (p.Arg15=)
NM_006493.4(CLN5):c.462T>C (p.Asp154=) rs2154034733
NM_006493.4(CLN5):c.465C>T (p.Ala155=) rs1480870613
NM_006493.4(CLN5):c.480T>C (p.Asn160=)
NM_006493.4(CLN5):c.486C>A (p.Gly162=)
NM_006493.4(CLN5):c.486C>G (p.Gly162=)
NM_006493.4(CLN5):c.489T>C (p.Ala163=) rs1593911173
NM_006493.4(CLN5):c.48C>A (p.Gly16=)
NM_006493.4(CLN5):c.48C>G (p.Gly16=)
NM_006493.4(CLN5):c.492C>T (p.Ala164=)
NM_006493.4(CLN5):c.495C>T (p.Cys165=) rs2034262211
NM_006493.4(CLN5):c.498T>C (p.Phe166=)
NM_006493.4(CLN5):c.513T>C (p.Asp171=)
NM_006493.4(CLN5):c.51G>A (p.Ala17=)
NM_006493.4(CLN5):c.534T>C (p.Asn178=) rs1368956736
NM_006493.4(CLN5):c.54C>T (p.Gly18=)
NM_006493.4(CLN5):c.555A>G (p.Ala185=) rs1422278737
NM_006493.4(CLN5):c.565+10G>A
NM_006493.4(CLN5):c.565+17T>C
NM_006493.4(CLN5):c.565+19G>C rs756731673
NM_006493.4(CLN5):c.565+7del rs2154034753
NM_006493.4(CLN5):c.566-14T>C
NM_006493.4(CLN5):c.566-15G>A
NM_006493.4(CLN5):c.566-15G>T
NM_006493.4(CLN5):c.566-15_566-11del rs771601428
NM_006493.4(CLN5):c.566-20_566-19insA
NM_006493.4(CLN5):c.566-7A>C
NM_006493.4(CLN5):c.566-7A>G rs772501269
NM_006493.4(CLN5):c.566-8T>A rs2154035102
NM_006493.4(CLN5):c.576C>T (p.Phe192=)
NM_006493.4(CLN5):c.588A>G (p.Ala196=)
NM_006493.4(CLN5):c.591G>A (p.Lys197=) rs1402613512
NM_006493.4(CLN5):c.597G>A (p.Val199=) rs2154035110
NM_006493.4(CLN5):c.606C>T (p.Asp202=) rs2154035112
NM_006493.4(CLN5):c.609T>C (p.Asn203=)
NM_006493.4(CLN5):c.615A>G (p.Thr205=) rs769662577
NM_006493.4(CLN5):c.639T>C (p.Asn213=)
NM_006493.4(CLN5):c.63G>A (p.Arg21=) rs1338752072
NM_006493.4(CLN5):c.63G>C (p.Arg21=) rs1338752072
NM_006493.4(CLN5):c.666A>G (p.Ala222=) rs1471280655
NM_006493.4(CLN5):c.669G>A (p.Glu223=)
NM_006493.4(CLN5):c.69C>A (p.Arg23=)
NM_006493.4(CLN5):c.69C>T (p.Arg23=)
NM_006493.4(CLN5):c.6G>T (p.Ala2=)
NM_006493.4(CLN5):c.705G>T (p.Val235=)
NM_006493.4(CLN5):c.714C>G (p.Thr238=) rs762726568
NM_006493.4(CLN5):c.720C>T (p.Asn240=) rs2154035139
NM_006493.4(CLN5):c.729T>C (p.Ala243=) rs1349247735
NM_006493.4(CLN5):c.75C>G (p.Ser25=) rs2154034259
NM_006493.4(CLN5):c.762C>G (p.Thr254=) rs1195593976
NM_006493.4(CLN5):c.762C>T (p.Thr254=)
NM_006493.4(CLN5):c.768T>C (p.Tyr256=)
NM_006493.4(CLN5):c.771A>G (p.Thr257=) rs2154035148
NM_006493.4(CLN5):c.798T>C (p.Pro266=) rs2034345081
NM_006493.4(CLN5):c.849T>C (p.Thr283=)
NM_006493.4(CLN5):c.861C>T (p.Ala287=) rs2154035176
NM_006493.4(CLN5):c.867A>G (p.Lys289=) rs2154035177
NM_006493.4(CLN5):c.87C>T (p.Ala29=)
NM_006493.4(CLN5):c.891A>G (p.Pro297=) rs2154035180
NM_006493.4(CLN5):c.903T>C (p.Thr301=) rs1161385670
NM_006493.4(CLN5):c.915G>T (p.Leu305=)
NM_006493.4(CLN5):c.921T>C (p.Ser307=)
NM_006493.4(CLN5):c.93G>T (p.Ala31=) rs971404954
NM_006493.4(CLN5):c.94C>T (p.Leu32=)
NM_006493.4(CLN5):c.951G>A (p.Val317=) rs369238431
NM_006493.4(CLN5):c.954C>T (p.His318=)
NM_006493.4(CLN5):c.955_956delinsCG (p.Lys319Arg) rs2034348880
NM_006493.4(CLN5):c.957A>G (p.Lys319=) rs1422809171
NM_006493.4(CLN5):c.963C>T (p.Phe321=) rs756149425
NM_006493.4(CLN5):c.969G>A (p.Leu323=)
NM_006493.4(CLN5):c.96G>A (p.Leu32=) rs2154034270
NM_006493.4(CLN5):c.96G>T (p.Leu32=) rs2154034270
NM_006493.4(CLN5):c.975T>C (p.Tyr325=)
NM_006493.4(CLN5):c.978T>C (p.Asn326=) rs2154035200
NM_006493.4(CLN5):c.984A>G (p.Glu328=) rs1593915252
NM_017882.3(CLN6):c.105T>C (p.Asp35=)
NM_017882.3(CLN6):c.114C>T (p.Ala38=) rs1219136331
NM_017882.3(CLN6):c.117C>A (p.Arg39=)
NM_017882.3(CLN6):c.123T>A (p.Ala41=) rs2141145111
NM_017882.3(CLN6):c.12G>A (p.Thr4=)
NM_017882.3(CLN6):c.132C>T (p.His44=)
NM_017882.3(CLN6):c.135C>A (p.Leu45=)
NM_017882.3(CLN6):c.135C>T (p.Leu45=) rs374577694
NM_017882.3(CLN6):c.138C>T (p.Asp46=) rs1595821372
NM_017882.3(CLN6):c.13C>A (p.Arg5=) rs886285802
NM_017882.3(CLN6):c.141C>T (p.Leu47=)
NM_017882.3(CLN6):c.195C>A (p.Ala65=)
NM_017882.3(CLN6):c.195C>T (p.Ala65=) rs1472031434
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.199-12T>C
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.204A>T (p.Val68=)
NM_017882.3(CLN6):c.207C>T (p.Phe69=) rs2093214789
NM_017882.3(CLN6):c.213C>G (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.216G>A (p.Glu72=)
NM_017882.3(CLN6):c.21G>A (p.Arg7=) rs2093262736
NM_017882.3(CLN6):c.225A>C (p.Pro75=)
NM_017882.3(CLN6):c.225A>G (p.Pro75=) rs544291935
NM_017882.3(CLN6):c.24G>A (p.Gln8=)
NM_017882.3(CLN6):c.252C>T (p.Tyr84=) rs2141141480
NM_017882.3(CLN6):c.255C>T (p.Phe85=)
NM_017882.3(CLN6):c.27C>T (p.His9=) rs2141156267
NM_017882.3(CLN6):c.288C>G (p.Leu96=) rs2141141422
NM_017882.3(CLN6):c.288C>T (p.Leu96=)
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+9C>T rs1258135795
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.298-20A>C
NM_017882.3(CLN6):c.298-8A>T rs2141139490
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.321C>T (p.Thr107=) rs755184214
NM_017882.3(CLN6):c.324G>T (p.Leu108=) rs2093206574
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>T (p.Tyr114=) rs765719755
NM_017882.3(CLN6):c.351C>T (p.Ile117=)
NM_017882.3(CLN6):c.354C>T (p.Ile118=) rs1555438691
NM_017882.3(CLN6):c.363C>T (p.Ile121=)
NM_017882.3(CLN6):c.375C>T (p.Ser125=) rs2093206218
NM_017882.3(CLN6):c.384G>A (p.Leu128=)
NM_017882.3(CLN6):c.396T>G (p.Ser132=) rs949403836
NM_017882.3(CLN6):c.39G>C (p.Thr13=)
NM_017882.3(CLN6):c.405C>T (p.His135=)
NM_017882.3(CLN6):c.411G>A (p.Leu137=) rs748062705
NM_017882.3(CLN6):c.414C>G (p.Leu138=)
NM_017882.3(CLN6):c.414C>T (p.Leu138=) rs2093206040
NM_017882.3(CLN6):c.426C>T (p.Tyr142=) rs768766915
NM_017882.3(CLN6):c.429G>A (p.Gln143=)
NM_017882.3(CLN6):c.441T>G (p.Ser147=) rs1595818241
NM_017882.3(CLN6):c.444C>G (p.Val148=) rs2141139200
NM_017882.3(CLN6):c.444C>T (p.Val148=)
NM_017882.3(CLN6):c.456C>A (p.Pro152=) rs2141139176
NM_017882.3(CLN6):c.45C>T (p.Gly15=)
NM_017882.3(CLN6):c.462C>T (p.Ile154=) rs2141139170
NM_017882.3(CLN6):c.465G>A (p.Lys155=)
NM_017882.3(CLN6):c.471C>G (p.Leu157=)
NM_017882.3(CLN6):c.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+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.487-19C>T rs2141138841
NM_017882.3(CLN6):c.487-5C>A
NM_017882.3(CLN6):c.487-7C>A
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.495C>T (p.Ser165=)
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.507C>T (p.Leu169=) rs1273285939
NM_017882.3(CLN6):c.519T>C (p.Asp173=) rs756942559
NM_017882.3(CLN6):c.525C>T (p.Tyr175=)
NM_017882.3(CLN6):c.526C>T (p.Leu176=) rs2141138733
NM_017882.3(CLN6):c.528G>A (p.Leu176=) rs2141138731
NM_017882.3(CLN6):c.528G>C (p.Leu176=) rs2141138731
NM_017882.3(CLN6):c.542+11G>A
NM_017882.3(CLN6):c.542+12G>T
NM_017882.3(CLN6):c.542+13C>G
NM_017882.3(CLN6):c.542+13C>T
NM_017882.3(CLN6):c.542+14C>T
NM_017882.3(CLN6):c.542+15del
NM_017882.3(CLN6):c.542+16A>T
NM_017882.3(CLN6):c.542+20G>A
NM_017882.3(CLN6):c.543-13C>G
NM_017882.3(CLN6):c.543-17T>C
NM_017882.3(CLN6):c.543-19A>G
NM_017882.3(CLN6):c.543-8T>C
NM_017882.3(CLN6):c.546C>T (p.Tyr182=) rs751550252
NM_017882.3(CLN6):c.54G>A (p.Ala18=) rs1199248099
NM_017882.3(CLN6):c.552C>T (p.Pro184=) rs1595817219
NM_017882.3(CLN6):c.555C>T (p.Phe185=) rs1595817218
NM_017882.3(CLN6):c.564C>T (p.Ile188=) rs371326037
NM_017882.3(CLN6):c.567C>T (p.Leu189=) rs762214934
NM_017882.3(CLN6):c.588C>T (p.Cys196=) rs770515770
NM_017882.3(CLN6):c.597C>A (p.Ala199=)
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.624G>A (p.Gly208=)
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.642G>A (p.Val214=)
NM_017882.3(CLN6):c.655C>T (p.Leu219=)
NM_017882.3(CLN6):c.657G>A (p.Leu219=) rs1363322956
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+7G>A
NM_017882.3(CLN6):c.666-12T>C
NM_017882.3(CLN6):c.666-15C>T
NM_017882.3(CLN6):c.666-16C>T rs2141136181
NM_017882.3(CLN6):c.666-19_666-16del
NM_017882.3(CLN6):c.666-4C>T rs2141136177
NM_017882.3(CLN6):c.666-5T>C
NM_017882.3(CLN6):c.666-5T>G
NM_017882.3(CLN6):c.666-9C>T
NM_017882.3(CLN6):c.669C>T (p.Tyr223=)
NM_017882.3(CLN6):c.66C>T (p.Ala22=) rs796052349
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.684C>A (p.Gly228=) rs1209133488
NM_017882.3(CLN6):c.690C>A (p.Ile230=)
NM_017882.3(CLN6):c.69C>T (p.Ser23=)
NM_017882.3(CLN6):c.711C>T (p.Thr237=) rs2141136113
NM_017882.3(CLN6):c.717C>T (p.Phe239=) rs745850620
NM_017882.3(CLN6):c.720C>T (p.Ala240=)
NM_017882.3(CLN6):c.724C>T (p.Leu242=) rs2093194081
NM_017882.3(CLN6):c.733G>A (p.Val245Ile) rs377192977
NM_017882.3(CLN6):c.735C>G (p.Val245=)
NM_017882.3(CLN6):c.73C>T (p.Leu25=)
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.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.774C>T (p.Asn258=) rs1555438231
NM_017882.3(CLN6):c.777C>T (p.Gly259=)
NM_017882.3(CLN6):c.783C>T (p.Phe261=)
NM_017882.3(CLN6):c.786C>T (p.Leu262=)
NM_017882.3(CLN6):c.789C>T (p.Phe263=)
NM_017882.3(CLN6):c.795C>T (p.Ser265=)
NM_017882.3(CLN6):c.802C>T (p.Leu268=)
NM_017882.3(CLN6):c.804G>A (p.Leu268=) rs2141135982
NM_017882.3(CLN6):c.804G>T (p.Leu268=) rs2141135982
NM_017882.3(CLN6):c.813G>A (p.Leu271=)
NM_017882.3(CLN6):c.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.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+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.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.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.873G>A (p.Pro291=) rs567275786
NM_017882.3(CLN6):c.876T>C (p.Gly292=) rs916275768
NM_017882.3(CLN6):c.879C>T (p.Val293=)
NM_017882.3(CLN6):c.888C>T (p.Val296=)
NM_017882.3(CLN6):c.90C>G (p.Gly30=)
NM_017882.3(CLN6):c.912C>G (p.Thr304=)
NM_017882.3(CLN6):c.9G>A (p.Ala3=)
NM_017882.3(CLN6):c.9G>C (p.Ala3=)
NM_018941.4(CLN8):c.102C>T (p.Phe34=) rs2130990585
NM_018941.4(CLN8):c.111C>A (p.Gly37=) rs753430388
NM_018941.4(CLN8):c.114C>A (p.Val38=) rs1585137545
NM_018941.4(CLN8):c.114C>G (p.Val38=) rs1585137545
NM_018941.4(CLN8):c.123C>G (p.Val41=)
NM_018941.4(CLN8):c.123C>T (p.Val41=) rs1801286645
NM_018941.4(CLN8):c.12G>A (p.Ala4=) rs368792081
NM_018941.4(CLN8):c.12G>C (p.Ala4=)
NM_018941.4(CLN8):c.12G>T (p.Ala4=) rs368792081
NM_018941.4(CLN8):c.135G>A (p.Leu45=) rs766132197
NM_018941.4(CLN8):c.135G>C (p.Leu45=)
NM_018941.4(CLN8):c.144C>A (p.Ser48=) rs2130990822
NM_018941.4(CLN8):c.145C>T (p.Leu49=)
NM_018941.4(CLN8):c.153C>G (p.Ala51=)
NM_018941.4(CLN8):c.159C>T (p.Tyr53=) rs780551031
NM_018941.4(CLN8):c.174C>T (p.Ala58=)
NM_018941.4(CLN8):c.180G>A (p.Glu60=) rs2130990994
NM_018941.4(CLN8):c.201G>A (p.Ala67=) rs575820157
NM_018941.4(CLN8):c.204C>T (p.Ala68=)
NM_018941.4(CLN8):c.210T>C (p.Arg70=) rs2130991152
NM_018941.4(CLN8):c.213A>C (p.Ala71=)
NM_018941.4(CLN8):c.213A>G (p.Ala71=) rs763671368
NM_018941.4(CLN8):c.216C>G (p.Val72=)
NM_018941.4(CLN8):c.21G>A (p.Gly7=) rs751762914
NM_018941.4(CLN8):c.228G>A (p.Gln76=) rs1585137825
NM_018941.4(CLN8):c.231C>T (p.Ser77=) rs1408818831
NM_018941.4(CLN8):c.234A>G (p.Thr78=) rs1450867136
NM_018941.4(CLN8):c.237C>T (p.Ala79=) rs1362205695
NM_018941.4(CLN8):c.244C>T (p.Leu82=)
NM_018941.4(CLN8):c.246G>C (p.Leu82=) rs144015378
NM_018941.4(CLN8):c.246G>T (p.Leu82=)
NM_018941.4(CLN8):c.258G>A (p.Leu86=)
NM_018941.4(CLN8):c.261G>A (p.Gly87=)
NM_018941.4(CLN8):c.273G>A (p.Leu91=) rs878855052
NM_018941.4(CLN8):c.273G>T (p.Leu91=) rs878855052
NM_018941.4(CLN8):c.291T>C (p.Arg97=)
NM_018941.4(CLN8):c.297G>A (p.Gln99=) rs1057521001
NM_018941.4(CLN8):c.303C>T (p.Asn101=) rs755831055
NM_018941.4(CLN8):c.321C>T (p.Ile107=) rs2130991748
NM_018941.4(CLN8):c.324G>T (p.Thr108=)
NM_018941.4(CLN8):c.327A>G (p.Thr109=)
NM_018941.4(CLN8):c.330A>G (p.Ala110=) rs2130991797
NM_018941.4(CLN8):c.336A>T (p.Gly112=) rs1585138188
NM_018941.4(CLN8):c.33G>A (p.Glu11=) rs2130990075
NM_018941.4(CLN8):c.345C>T (p.Cys115=)
NM_018941.4(CLN8):c.360A>G (p.Ala120=) rs2130991953
NM_018941.4(CLN8):c.363C>A (p.Val121=) rs568852954
NM_018941.4(CLN8):c.366C>T (p.His122=)
NM_018941.4(CLN8):c.367C>T (p.Leu123=) rs2130992011
NM_018941.4(CLN8):c.369G>A (p.Leu123=)
NM_018941.4(CLN8):c.372C>T (p.Ser124=) rs2130992027
NM_018941.4(CLN8):c.375C>T (p.Asn125=)
NM_018941.4(CLN8):c.376T>C (p.Leu126=)
NM_018941.4(CLN8):c.384C>T (p.Phe128=)
NM_018941.4(CLN8):c.387G>C (p.Arg129=) rs2130992139
NM_018941.4(CLN8):c.390A>C (p.Thr130=) rs181971599
NM_018941.4(CLN8):c.390A>G (p.Thr130=) rs181971599
NM_018941.4(CLN8):c.399G>A (p.Leu133=) rs948684101
NM_018941.4(CLN8):c.39T>A (p.Ile13=)
NM_018941.4(CLN8):c.405G>A (p.Leu135=)
NM_018941.4(CLN8):c.408T>C (p.Val136=) rs535963507
NM_018941.4(CLN8):c.411C>T (p.Ile137=) rs147224140
NM_018941.4(CLN8):c.420C>G (p.Leu140=) rs2130992308
NM_018941.4(CLN8):c.426C>T (p.Ala142=) rs1354416712
NM_018941.4(CLN8):c.429T>C (p.Phe143=)
NM_018941.4(CLN8):c.453C>G (p.Val151=) rs1801304769
NM_018941.4(CLN8):c.453C>T (p.Val151=)
NM_018941.4(CLN8):c.459C>A (p.Leu153=) rs1031756072
NM_018941.4(CLN8):c.459C>G (p.Leu153=) rs1031756072
NM_018941.4(CLN8):c.459C>T (p.Leu153=)
NM_018941.4(CLN8):c.462A>G (p.Gln154=) rs1366343262
NM_018941.4(CLN8):c.468C>G (p.Gly156=) rs2130992519
NM_018941.4(CLN8):c.474T>C (p.Tyr158=) rs2130992557
NM_018941.4(CLN8):c.475C>T (p.Leu159=) rs2130992571
NM_018941.4(CLN8):c.477A>G (p.Leu159=)
NM_018941.4(CLN8):c.486C>T (p.Thr162=) rs768531216
NM_018941.4(CLN8):c.489G>A (p.Thr163=) rs1585138564
NM_018941.4(CLN8):c.489G>T (p.Thr163=) rs1585138564
NM_018941.4(CLN8):c.48G>C (p.Leu16=) rs2130990190
NM_018941.4(CLN8):c.490T>C (p.Leu164=) rs2130992657
NM_018941.4(CLN8):c.495C>T (p.Leu165=) rs772106347
NM_018941.4(CLN8):c.496C>T (p.Leu166=)
NM_018941.4(CLN8):c.510G>C (p.Thr170=)
NM_018941.4(CLN8):c.510G>T (p.Thr170=) rs759153401
NM_018941.4(CLN8):c.513C>A (p.Pro171=)
NM_018941.4(CLN8):c.537C>T (p.Leu179=) rs2130992882
NM_018941.4(CLN8):c.543+12C>G
NM_018941.4(CLN8):c.543+12_543+20dup
NM_018941.4(CLN8):c.543+13A>C
NM_018941.4(CLN8):c.543+14T>G
NM_018941.4(CLN8):c.543+19A>C
NM_018941.4(CLN8):c.543+7G>A rs779967066
NM_018941.4(CLN8):c.543+9A>C rs982453047
NM_018941.4(CLN8):c.544-15C>T
NM_018941.4(CLN8):c.544-19T>G
NM_018941.4(CLN8):c.544-5T>C
NM_018941.4(CLN8):c.544-6A>C rs200435861
NM_018941.4(CLN8):c.544-6A>T
NM_018941.4(CLN8):c.544-8C>A
NM_018941.4(CLN8):c.546G>T (p.Ala182=) rs144047076
NM_018941.4(CLN8):c.555C>G (p.Ser185=)
NM_018941.4(CLN8):c.561T>A (p.Ser187=)
NM_018941.4(CLN8):c.561T>C (p.Ser187=)
NM_018941.4(CLN8):c.573G>A (p.Lys191=) rs1801671744
NM_018941.4(CLN8):c.576C>G (p.Leu192=)
NM_018941.4(CLN8):c.576C>T (p.Leu192=)
NM_018941.4(CLN8):c.57A>G (p.Ala19=) rs1256814205
NM_018941.4(CLN8):c.588G>A (p.Leu196=) rs2129015199
NM_018941.4(CLN8):c.588G>C (p.Leu196=) rs2129015199
NM_018941.4(CLN8):c.612C>T (p.Arg204=)
NM_018941.4(CLN8):c.618T>G (p.Val206=)
NM_018941.4(CLN8):c.624C>A (p.Thr208=) rs1257327513
NM_018941.4(CLN8):c.630C>T (p.His210=) rs1554451522
NM_018941.4(CLN8):c.663C>A (p.Gly221=)
NM_018941.4(CLN8):c.669C>G (p.Val223=) rs2129015252
NM_018941.4(CLN8):c.675C>T (p.Ser225=)
NM_018941.4(CLN8):c.678G>A (p.Leu226=)
NM_018941.4(CLN8):c.678G>C (p.Leu226=) rs1462963398
NM_018941.4(CLN8):c.682C>T (p.Leu228=) rs1585151658
NM_018941.4(CLN8):c.684G>C (p.Leu228=)
NM_018941.4(CLN8):c.693G>A (p.Leu231=) rs1470702469
NM_018941.4(CLN8):c.696A>G (p.Thr232=) rs1337045486
NM_018941.4(CLN8):c.697C>T (p.Leu233=)
NM_018941.4(CLN8):c.699G>C (p.Leu233=)
NM_018941.4(CLN8):c.702C>T (p.Phe234=) rs1264323379
NM_018941.4(CLN8):c.705T>G (p.Leu235=)
NM_018941.4(CLN8):c.714G>A (p.Leu238=)
NM_018941.4(CLN8):c.726G>C (p.Thr242=) rs200529220
NM_018941.4(CLN8):c.72C>T (p.Arg24=) rs767698401
NM_018941.4(CLN8):c.738T>C (p.Asn246=) rs2129015283
NM_018941.4(CLN8):c.744T>C (p.Tyr248=) rs2129015286
NM_018941.4(CLN8):c.750C>T (p.Thr250=)
NM_018941.4(CLN8):c.759G>A (p.Lys253=) rs1463644943
NM_018941.4(CLN8):c.774C>T (p.Leu258=) rs1801681630
NM_018941.4(CLN8):c.780G>C (p.Pro260=) rs761984333
NM_018941.4(CLN8):c.792C>T (p.Asn264=) rs587779411
NM_018941.4(CLN8):c.798A>C (p.Ala266=) rs754493769
NM_018941.4(CLN8):c.798A>G (p.Ala266=)
NM_018941.4(CLN8):c.804A>G (p.Pro268=) rs746305311
NM_018941.4(CLN8):c.810C>G (p.Ala270=)
NM_018941.4(CLN8):c.813G>A (p.Lys271=) rs947633775
NM_018941.4(CLN8):c.834G>A (p.Gly278=)
NM_018941.4(CLN8):c.838C>T (p.Leu280=) rs886043061
NM_018941.4(CLN8):c.841C>T (p.Leu281=)
NM_018941.4(CLN8):c.844C>A (p.Arg282=) rs587780898
NM_018941.4(CLN8):c.855G>A (p.Arg285=)
NM_018941.4(CLN8):c.861G>A (p.Ter287=)
NM_018941.4(CLN8):c.90T>G (p.Ala30=)
NM_018941.4(CLN8):c.93C>T (p.Gly31=)
NM_025219.3(DNAJC5):c.111G>A (p.Lys37=) rs2053641677
NM_025219.3(DNAJC5):c.147C>T (p.Asp49=)
NM_025219.3(DNAJC5):c.150C>T (p.Asn50=) rs963094374
NM_025219.3(DNAJC5):c.153G>A (p.Pro51=) rs151265913
NM_025219.3(DNAJC5):c.153G>T (p.Pro51=) rs151265913
NM_025219.3(DNAJC5):c.168G>A (p.Lys56=)
NM_025219.3(DNAJC5):c.174G>A (p.Lys58=) rs2146305404
NM_025219.3(DNAJC5):c.186C>T (p.Asn62=)
NM_025219.3(DNAJC5):c.193G>T (p.Ala65Ser) rs772453351
NM_025219.3(DNAJC5):c.243G>T (p.Ser81=) rs532410241
NM_025219.3(DNAJC5):c.244C>T (p.Leu82=) rs1168791937
NM_025219.3(DNAJC5):c.261C>G (p.Ala87=)
NM_025219.3(DNAJC5):c.285G>T (p.Val95=)
NM_025219.3(DNAJC5):c.303G>A (p.Leu101=)
NM_025219.3(DNAJC5):c.321+38_321+63del rs2053644346
NM_025219.3(DNAJC5):c.321+90_321+141del rs2146305682
NM_025219.3(DNAJC5):c.322-13C>T
NM_025219.3(DNAJC5):c.322-15_322-14delinsAC rs2146308175
NM_025219.3(DNAJC5):c.322-17C>T
NM_025219.3(DNAJC5):c.322-18_322-16del rs1410187166
NM_025219.3(DNAJC5):c.322-4C>A
NM_025219.3(DNAJC5):c.322-4C>G rs376221120
NM_025219.3(DNAJC5):c.322-5C>G rs373568941
NM_025219.3(DNAJC5):c.327G>C (p.Leu109=) rs1555880229
NM_025219.3(DNAJC5):c.333C>G (p.Val111=) rs1037164977
NM_025219.3(DNAJC5):c.336C>T (p.Phe112=)
NM_025219.3(DNAJC5):c.342C>T (p.Gly114=) rs746279787
NM_025219.3(DNAJC5):c.351G>T (p.Thr117=) rs775067598
NM_025219.3(DNAJC5):c.360C>T (p.Tyr120=)
NM_025219.3(DNAJC5):c.375G>C (p.Leu125=)
NM_025219.3(DNAJC5):c.39G>A (p.Gly13=) rs753100030
NM_025219.3(DNAJC5):c.417G>A (p.Lys139=)
NM_025219.3(DNAJC5):c.420G>A (p.Ala140=) rs568985915
NM_025219.3(DNAJC5):c.438G>A (p.Thr146=) rs746222594
NM_025219.3(DNAJC5):c.441G>A (p.Glu147=)
NM_025219.3(DNAJC5):c.453C>T (p.Ser151=) rs1482200561
NM_025219.3(DNAJC5):c.483T>A (p.Ser161=) rs2146308564
NM_025219.3(DNAJC5):c.493+11G>C rs760774827
NM_025219.3(DNAJC5):c.493+17G>C
NM_025219.3(DNAJC5):c.493+19G>A rs2053665643
NM_025219.3(DNAJC5):c.493+20C>A
NM_025219.3(DNAJC5):c.493+22del
NM_025219.3(DNAJC5):c.493+8C>T
NM_025219.3(DNAJC5):c.494-15G>A
NM_025219.3(DNAJC5):c.494-16T>A
NM_025219.3(DNAJC5):c.494-19C>T
NM_025219.3(DNAJC5):c.504C>T (p.Asp168=) rs886056935
NM_025219.3(DNAJC5):c.510G>T (p.Pro170=)
NM_025219.3(DNAJC5):c.516C>T (p.Val172=) rs2146309323
NM_025219.3(DNAJC5):c.537C>T (p.Thr179=)
NM_025219.3(DNAJC5):c.554C>T (p.Thr185Ile)
NM_025219.3(DNAJC5):c.558C>T (p.Ala186=)
NM_025219.3(DNAJC5):c.570C>T (p.Pro190=) rs1349994773
NM_025219.3(DNAJC5):c.57C>T (p.Val19=)
NM_025219.3(DNAJC5):c.66G>A (p.Leu22=) rs1057523849
NM_025219.3(DNAJC5):c.96A>G (p.Lys32=) rs2146303986
NM_025219.3(DNAJC5):c.99G>A (p.Lys33=) rs2146303993
NM_025219.3(DNAJC5):c.9C>T (p.Asp3=)

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.