ClinVar Miner

List of variants reported as likely benign for neuronal ceroid lipofuscinosis by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3210
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HGVS dbSNP gnomAD frequency
NM_003793.4(CTSF):c.676C>T (p.Arg226Cys) rs143313688 0.00277
NM_002087.4(GRN):c.1298G>A (p.Arg433Gln) rs114248177 0.00247
NM_018941.4(CLN8):c.290G>A (p.Arg97His) rs116605307 0.00236
NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp) rs28544073 0.00184
NM_018941.4(CLN8):c.11C>T (p.Ala4Val) rs147181589 0.00175
NM_022089.4(ATP13A2):c.7G>C (p.Ala3Pro) rs549839037 0.00122
NM_022089.4(ATP13A2):c.2348G>A (p.Arg783Gln) rs137955309 0.00108
NM_003793.4(CTSF):c.683C>G (p.Thr228Arg) rs148611356 0.00105
NM_006493.4(CLN5):c.-146T>C rs201615354 0.00104
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe) rs55708915 0.00091
NM_022089.4(ATP13A2):c.841-4A>G rs112549590 0.00090
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_002087.4(GRN):c.1126G>A (p.Asp376Asn) rs143030899 0.00082
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val) rs149372969 0.00081
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr) rs63750043 0.00076
NM_022089.4(ATP13A2):c.106-8G>A rs200587951 0.00075
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_022089.4(ATP13A2):c.2942C>T (p.Thr981Met) rs148201608 0.00070
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_002087.4(GRN):c.253C>G (p.Pro85Ala) rs143560849 0.00058
NM_002087.4(GRN):c.1515C>T (p.Ala505=) rs147495221 0.00052
NM_002087.4(GRN):c.393C>G (p.Phe131Leu) rs149180605 0.00052
NM_001042432.2(CLN3):c.963-16C>G rs200023908 0.00051
NM_025219.3(DNAJC5):c.282C>T (p.Asn94=) rs113207069 0.00051
NM_003793.4(CTSF):c.213+7A>T rs761072570 0.00050
NM_022089.4(ATP13A2):c.2331C>T (p.His777=) rs144708504 0.00050
NM_017882.3(CLN6):c.487-15C>T rs200775021 0.00049
NM_000310.4(PPT1):c.799-19A>C rs367820578 0.00046
NM_001042432.2(CLN3):c.831G>A (p.Val277=) rs1142183 0.00045
NM_002087.4(GRN):c.513C>T (p.Cys171=) rs147974849 0.00044
NM_002087.4(GRN):c.903G>A (p.Ser301=) rs63750142 0.00044
NM_022089.4(ATP13A2):c.3235+20C>T rs376475762 0.00044
NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val) rs145515028 0.00044
NM_022089.4(ATP13A2):c.2160G>T (p.Gly720=) rs61999317 0.00043
NM_002087.4(GRN):c.981G>A (p.Thr327=) rs145655086 0.00041
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_022089.4(ATP13A2):c.2020G>A (p.Ala674Thr) rs143834546 0.00037
NM_017882.3(CLN6):c.42C>A (p.Gly14=) rs373776911 0.00036
NM_022089.4(ATP13A2):c.1203C>T (p.Cys401=) rs148026506 0.00035
NM_001909.5(CTSD):c.1071+12A>G rs113936232 0.00034
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=) rs200916673 0.00034
NM_022089.4(ATP13A2):c.2263C>G (p.Gln755Glu) rs200924194 0.00034
NM_153033.5(KCTD7):c.273C>T (p.Ser91=) rs139585796 0.00034
NM_153033.5(KCTD7):c.387C>T (p.Ala129=) rs140932942 0.00032
NM_001042432.2(CLN3):c.678-18C>A rs370158185 0.00031
NM_022089.4(ATP13A2):c.3207G>A (p.Ala1069=) rs137877665 0.00031
NM_153033.5(KCTD7):c.507G>C (p.Arg169=) rs142379946 0.00031
NM_022089.4(ATP13A2):c.2619G>C (p.Val873=) rs199994961 0.00030
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_003793.4(CTSF):c.214-6C>T rs376579629 0.00026
NM_022089.4(ATP13A2):c.2610-9T>C rs376189607 0.00026
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr) rs147800688 0.00025
NM_022089.4(ATP13A2):c.472G>A (p.Gly158Arg) rs113643181 0.00025
NM_002087.4(GRN):c.276C>T (p.Cys92=) rs146792371 0.00024
NM_022089.4(ATP13A2):c.3258G>A (p.Ala1086=) rs377253172 0.00024
NM_022089.4(ATP13A2):c.3429C>T (p.Pro1143=) rs377703085 0.00024
NM_153033.5(KCTD7):c.687T>C (p.Asp229=) rs372150992 0.00024
NM_022089.4(ATP13A2):c.2198C>T (p.Thr733Met) rs201883464 0.00023
NM_001909.5(CTSD):c.828-18C>T rs377228580 0.00022
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) rs63751100 0.00022
NM_001909.5(CTSD):c.228+18G>T rs376354665 0.00021
NM_002087.4(GRN):c.360C>T (p.Ser120=) rs375183423 0.00021
NM_017882.3(CLN6):c.282C>A (p.Pro94=) rs139261571 0.00021
NM_022089.4(ATP13A2):c.2043A>G (p.Thr681=) rs143828547 0.00021
NM_022089.4(ATP13A2):c.36G>A (p.Thr12=) rs61741838 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_022089.4(ATP13A2):c.2685G>A (p.Leu895=) rs138437271 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_002087.4(GRN):c.705C>A (p.Pro235=) rs148507354 0.00019
NM_000310.4(PPT1):c.798+8G>A rs368106574 0.00018
NM_002087.4(GRN):c.349+12G>T rs367640963 0.00018
NM_022089.4(ATP13A2):c.1543-9C>T rs563459900 0.00018
NM_022089.4(ATP13A2):c.1353+8T>C rs369680614 0.00017
NM_001042432.2(CLN3):c.537C>T (p.Ala179=) rs147667964 0.00016
NM_003793.4(CTSF):c.1203C>T (p.Ser401=) rs139027846 0.00016
NM_022089.4(ATP13A2):c.2592C>T (p.Cys864=) rs777472886 0.00016
NM_153033.5(KCTD7):c.133C>T (p.Leu45=) rs587780370 0.00016
NM_001042432.2(CLN3):c.677+8G>A rs368568189 0.00015
NM_001371596.2(MFSD8):c.155-15T>C rs374019724 0.00015
NM_001371596.2(MFSD8):c.199-11T>C rs750871697 0.00015
NM_022089.4(ATP13A2):c.3327G>A (p.Arg1109=) rs112261486 0.00015
NM_001042432.2(CLN3):c.174C>T (p.Ala58=) rs138433617 0.00014
NM_002087.4(GRN):c.1539C>T (p.His513=) rs772977073 0.00014
NM_002087.4(GRN):c.279G>A (p.Gly93=) rs63751088 0.00014
NM_018941.4(CLN8):c.207G>A (p.Thr69=) rs368365607 0.00014
NM_022089.4(ATP13A2):c.1449C>T (p.Tyr483=) rs750600448 0.00014
NM_153033.5(KCTD7):c.168C>T (p.Asn56=) rs371824397 0.00014
NM_153033.5(KCTD7):c.192A>G (p.Thr64=) rs142526573 0.00014
NM_001371596.2(MFSD8):c.206C>T (p.Pro69Leu) rs147750747 0.00013
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_022089.4(ATP13A2):c.1080G>C (p.Gly360=) rs55943100 0.00013
NM_022089.4(ATP13A2):c.1196-14C>T rs200896109 0.00013
NM_022089.4(ATP13A2):c.1975C>T (p.Leu659=) rs755284799 0.00013
NM_022089.4(ATP13A2):c.3235+13G>A rs369278996 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_003793.4(CTSF):c.780G>A (p.Lys260=) rs140002533 0.00012
NM_018941.4(CLN8):c.333G>A (p.Thr111=) rs377273687 0.00012
NM_022089.4(ATP13A2):c.1711G>A (p.Asp571Asn) rs369863178 0.00012
NM_022089.4(ATP13A2):c.192C>T (p.Leu64=) rs576096315 0.00012
NM_025219.3(DNAJC5):c.531C>T (p.Ser177=) rs376694698 0.00012
NM_000310.4(PPT1):c.657G>C (p.Leu219=) rs773591614 0.00011
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_002087.4(GRN):c.507C>G (p.Ala169=) rs113426443 0.00011
NM_003793.4(CTSF):c.597G>A (p.Glu199=) rs200932066 0.00011
NM_017882.3(CLN6):c.585C>T (p.Gly195=) rs144507672 0.00011
NM_022089.4(ATP13A2):c.1767G>A (p.Pro589=) rs752208167 0.00011
NM_022089.4(ATP13A2):c.252C>T (p.His84=) rs554944790 0.00011
NM_022089.4(ATP13A2):c.2655C>T (p.Ala885=) rs371975975 0.00011
NM_153033.5(KCTD7):c.621C>A (p.Leu207=) rs376944331 0.00011
NM_000310.4(PPT1):c.513G>A (p.Ala171=) rs150924738 0.00010
NM_001909.5(CTSD):c.471+16G>A rs567387961 0.00010
NM_002087.4(GRN):c.836-8C>T rs376226985 0.00010
NM_018941.4(CLN8):c.725C>T (p.Thr242Met) rs138821993 0.00010
NM_022089.4(ATP13A2):c.2709C>G (p.Val903=) rs145455452 0.00010
NM_022089.4(ATP13A2):c.844A>T (p.Ser282Cys) rs538497077 0.00010
NM_000310.4(PPT1):c.363-5C>T rs112553480 0.00009
NM_001042432.2(CLN3):c.759C>A (p.Leu253=) rs772274552 0.00009
NM_002087.4(GRN):c.1449G>A (p.Pro483=) rs150294858 0.00009
NM_002087.4(GRN):c.1647C>T (p.Gly549=) rs745391227 0.00009
NM_002087.4(GRN):c.429C>T (p.Val143=) rs369649646 0.00009
NM_003793.4(CTSF):c.810C>T (p.Leu270=) rs147398226 0.00009
NM_003793.4(CTSF):c.868-17C>G rs554536950 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_022089.4(ATP13A2):c.255C>T (p.Ala85=) rs369906056 0.00009
NM_022089.4(ATP13A2):c.3518C>T (p.Pro1173Leu) rs372995036 0.00009
NM_022089.4(ATP13A2):c.35C>T (p.Thr12Met) rs151117874 0.00009
NM_022089.4(ATP13A2):c.396G>A (p.Ala132=) rs140631323 0.00009
NM_022089.4(ATP13A2):c.588C>T (p.Asp196=) rs147384248 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_000310.4(PPT1):c.627+9C>T rs368895182 0.00008
NM_001042432.2(CLN3):c.1209G>A (p.Glu403=) rs377369610 0.00008
NM_001371596.2(MFSD8):c.1102+13A>G rs371975482 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_002087.4(GRN):c.1341C>T (p.His447=) rs63750775 0.00008
NM_002087.4(GRN):c.615G>A (p.Ser205=) rs372963871 0.00008
NM_002087.4(GRN):c.626C>T (p.Pro209Leu) rs368995988 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_022089.4(ATP13A2):c.1079G>A (p.Gly360Glu) rs566918264 0.00008
NM_022089.4(ATP13A2):c.1629T>A (p.Pro543=) rs369352100 0.00008
NM_153033.5(KCTD7):c.145-15G>T rs749343374 0.00008
NM_153033.5(KCTD7):c.411C>T (p.Leu137=) rs374072904 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_002087.4(GRN):c.1742A>T (p.Asp581Val) rs768223928 0.00007
NM_006493.4(CLN5):c.642A>T (p.Val214=) rs751496223 0.00007
NM_022089.4(ATP13A2):c.197G>A (p.Arg66His) rs367745335 0.00007
NM_022089.4(ATP13A2):c.3297C>T (p.Pro1099=) rs756650754 0.00007
NM_022089.4(ATP13A2):c.3473G>A (p.Arg1158His) rs544885605 0.00007
NM_022089.4(ATP13A2):c.528C>T (p.Ile176=) rs371992028 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_002087.4(GRN):c.1641C>T (p.Arg547=) rs149658268 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_022089.4(ATP13A2):c.2252-8A>T rs759020707 0.00006
NM_022089.4(ATP13A2):c.2406C>T (p.Gly802=) rs886045580 0.00006
NM_022089.4(ATP13A2):c.2994C>T (p.Ser998=) rs369590596 0.00006
NM_022089.4(ATP13A2):c.699G>T (p.Val233=) rs374074690 0.00006
NM_022089.4(ATP13A2):c.745G>A (p.Ala249Thr) rs199661793 0.00006
NM_022089.4(ATP13A2):c.823C>T (p.Leu275=) rs767056514 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_153033.5(KCTD7):c.216C>T (p.Tyr72=) rs745910052 0.00006
NM_153033.5(KCTD7):c.493+7G>T rs1482884248 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_001371596.2(MFSD8):c.1335A>G (p.Leu445=) rs145518709 0.00005
NM_001371596.2(MFSD8):c.342C>T (p.Ser114=) rs201905099 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_002087.4(GRN):c.102C>T (p.Pro34=) rs63751074 0.00005
NM_002087.4(GRN):c.501C>T (p.His167=) rs372194047 0.00005
NM_002087.4(GRN):c.555C>T (p.His185=) rs146250263 0.00005
NM_002087.4(GRN):c.933+15C>T rs1306228988 0.00005
NM_003793.4(CTSF):c.351C>T (p.His117=) rs112809338 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_022089.4(ATP13A2):c.106-4G>A rs372541124 0.00005
NM_022089.4(ATP13A2):c.1202G>A (p.Cys401Tyr) rs377186549 0.00005
NM_022089.4(ATP13A2):c.3084-16A>T rs56299881 0.00005
NM_022089.4(ATP13A2):c.3378C>T (p.Leu1126=) rs773914880 0.00005
NM_022089.4(ATP13A2):c.822G>A (p.Ser274=) rs138649639 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_000310.4(PPT1):c.198C>T (p.Tyr66=) rs200035288 0.00004
NM_000310.4(PPT1):c.234+14C>T rs779785372 0.00004
NM_000310.4(PPT1):c.234+7C>T rs200777536 0.00004
NM_000310.4(PPT1):c.363-19A>G rs587781124 0.00004
NM_000310.4(PPT1):c.543G>A (p.Val181=) rs374121503 0.00004
NM_000310.4(PPT1):c.810G>C (p.Gly270=) rs371213189 0.00004
NM_001042432.2(CLN3):c.1002C>T (p.Arg334=) rs140828382 0.00004
NM_001042432.2(CLN3):c.1095C>T (p.Phe365=) rs757106140 0.00004
NM_001042432.2(CLN3):c.1119C>T (p.Leu373=) rs376478363 0.00004
NM_001042432.2(CLN3):c.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_001371596.2(MFSD8):c.1074A>G (p.Gly358=) rs755236045 0.00004
NM_001371596.2(MFSD8):c.435A>C (p.Gly145=) rs781299975 0.00004
NM_001371596.2(MFSD8):c.978A>G (p.Gly326=) rs138219028 0.00004
NM_001909.5(CTSD):c.1062C>T (p.Tyr354=) rs764106396 0.00004
NM_001909.5(CTSD):c.1071+9G>A rs747408239 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_002087.4(GRN):c.1695C>T (p.Cys565=) rs63751248 0.00004
NM_002087.4(GRN):c.402G>A (p.Pro134=) rs201932427 0.00004
NM_002087.4(GRN):c.552C>T (p.Thr184=) rs141697391 0.00004
NM_002087.4(GRN):c.690C>T (p.Gly230=) rs956842924 0.00004
NM_002087.4(GRN):c.709-12G>C rs771557106 0.00004
NM_003793.4(CTSF):c.1026C>T (p.Tyr342=) rs762134997 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_022089.4(ATP13A2):c.1182G>T (p.Val394=) rs372159448 0.00004
NM_022089.4(ATP13A2):c.144C>T (p.Ile48=) rs375615601 0.00004
NM_022089.4(ATP13A2):c.153C>T (p.His51=) rs759666274 0.00004
NM_022089.4(ATP13A2):c.2640C>T (p.Ala880=) rs567287489 0.00004
NM_022089.4(ATP13A2):c.2745C>T (p.Cys915=) rs372361807 0.00004
NM_022089.4(ATP13A2):c.2763-17C>T rs367638044 0.00004
NM_022089.4(ATP13A2):c.2952G>A (p.Ala984=) rs138212767 0.00004
NM_022089.4(ATP13A2):c.3205G>A (p.Ala1069Thr) rs774238872 0.00004
NM_022089.4(ATP13A2):c.3235+16C>T rs373315947 0.00004
NM_022089.4(ATP13A2):c.407C>T (p.Ala136Val) rs562519835 0.00004
NM_022089.4(ATP13A2):c.993C>T (p.Ala331=) rs568367953 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_153033.5(KCTD7):c.315-10T>C rs370881492 0.00004
NC_000013.11:g.76992005A>G rs767480061 0.00003
NM_000310.4(PPT1):c.282A>G (p.Thr94=) rs753828114 0.00003
NM_000310.4(PPT1):c.434-12C>T rs1195845438 0.00003
NM_001042432.2(CLN3):c.1116C>T (p.Tyr372=) rs142456044 0.00003
NM_001042432.2(CLN3):c.1167C>T (p.Tyr389=) rs371025471 0.00003
NM_001042432.2(CLN3):c.1198-5C>T rs764999720 0.00003
NM_001042432.2(CLN3):c.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_001371596.2(MFSD8):c.1320A>G (p.Leu440=) rs148864710 0.00003
NM_001371596.2(MFSD8):c.1377A>G (p.Ala459=) rs185047041 0.00003
NM_001371596.2(MFSD8):c.1428T>C (p.Tyr476=) rs1265498848 0.00003
NM_001371596.2(MFSD8):c.1518C>T (p.Leu506=) rs140732035 0.00003
NM_001371596.2(MFSD8):c.554-6A>G rs759190605 0.00003
NM_001371596.2(MFSD8):c.78A>G (p.Leu26=) rs770986122 0.00003
NM_001371596.2(MFSD8):c.846C>A (p.Ile282=) rs776272077 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_002087.4(GRN):c.1485C>T (p.Cys495=) rs63750576 0.00003
NM_002087.4(GRN):c.57G>T (p.Arg19=) rs1426790644 0.00003
NM_002087.4(GRN):c.933+11G>A rs373518235 0.00003
NM_003793.4(CTSF):c.1218C>T (p.Ala406=) rs758499333 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_022089.4(ATP13A2):c.1104A>G (p.Thr368=) rs762728165 0.00003
NM_022089.4(ATP13A2):c.1398C>T (p.Thr466=) rs768482207 0.00003
NM_022089.4(ATP13A2):c.1688G>A (p.Arg563Gln) rs541385523 0.00003
NM_022089.4(ATP13A2):c.2190G>T (p.Pro730=) rs148275181 0.00003
NM_022089.4(ATP13A2):c.2439C>T (p.Thr813=) rs368244226 0.00003
NM_022089.4(ATP13A2):c.2478C>T (p.Ser826=) rs147611385 0.00003
NM_022089.4(ATP13A2):c.2529+8C>T rs771708290 0.00003
NM_022089.4(ATP13A2):c.2796C>T (p.Ser932=) rs755542233 0.00003
NM_022089.4(ATP13A2):c.3235+10C>T rs567315420 0.00003
NM_022089.4(ATP13A2):c.3360G>C (p.Leu1120=) rs1170773460 0.00003
NM_022089.4(ATP13A2):c.3384C>T (p.Phe1128=) rs373514205 0.00003
NM_022089.4(ATP13A2):c.3501C>T (p.Ala1167=) rs781135190 0.00003
NM_022089.4(ATP13A2):c.42C>T (p.Thr14=) rs371850140 0.00003
NM_022089.4(ATP13A2):c.558-20C>T rs749500132 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_153033.5(KCTD7):c.132G>A (p.Leu44=) rs1057523155 0.00003
NM_153033.5(KCTD7):c.171C>T (p.Ile57=) rs376524066 0.00003
NM_153033.5(KCTD7):c.519C>T (p.Ile173=) rs866499042 0.00003
NC_000013.11:g.76991952A>C rs1268502139 0.00002
NC_000013.11:g.76992008C>A rs1057522685 0.00002
NC_000013.11:g.76992068G>C rs779934262 0.00002
NM_000310.4(PPT1):c.141T>C (p.Asn47=) rs756148014 0.00002
NM_000310.4(PPT1):c.237C>T (p.Asp79=) rs373867152 0.00002
NM_000310.4(PPT1):c.255C>T (p.Phe85=) rs563017334 0.00002
NM_000310.4(PPT1):c.362+18A>G rs201717598 0.00002
NM_000310.4(PPT1):c.369A>G (p.Ala123=) rs138951598 0.00002
NM_000310.4(PPT1):c.537-12T>C rs1057515556 0.00002
NM_000310.4(PPT1):c.537-8T>C rs773581354 0.00002
NM_000310.4(PPT1):c.627+8C>T rs1427848229 0.00002
NM_000310.4(PPT1):c.645C>T (p.Tyr215=) rs906447282 0.00002
NM_000310.4(PPT1):c.726+9C>T rs1024088820 0.00002
NM_000310.4(PPT1):c.798+19A>G rs774008808 0.00002
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_001371596.2(MFSD8):c.1068T>C (p.Pro356=) rs376258320 0.00002
NM_001371596.2(MFSD8):c.1080A>G (p.Gln360=) rs751316775 0.00002
NM_001371596.2(MFSD8):c.1103-18A>G rs748197230 0.00002
NM_001371596.2(MFSD8):c.1251C>T (p.Ala417=) rs1477931820 0.00002
NM_001371596.2(MFSD8):c.1513A>C (p.Arg505=) rs776622815 0.00002
NM_001371596.2(MFSD8):c.177C>T (p.Ser59=) rs766788326 0.00002
NM_001371596.2(MFSD8):c.186A>G (p.Pro62=) rs750969105 0.00002
NM_001371596.2(MFSD8):c.33G>A (p.Glu11=) rs1339889094 0.00002
NM_001371596.2(MFSD8):c.439+16T>A rs1320386320 0.00002
NM_001371596.2(MFSD8):c.465T>C (p.Tyr155=) rs753346740 0.00002
NM_001371596.2(MFSD8):c.493A>C (p.Arg165=) rs761767969 0.00002
NM_001371596.2(MFSD8):c.63-4C>T rs764964269 0.00002
NM_001371596.2(MFSD8):c.863+9T>C rs201046915 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_002087.4(GRN):c.327G>A (p.Gly109=) rs753361816 0.00002
NM_002087.4(GRN):c.630C>T (p.Asp210=) rs768056183 0.00002
NM_002087.4(GRN):c.723C>T (p.Ser241=) rs200408271 0.00002
NM_002087.4(GRN):c.969C>T (p.Pro323=) rs749575144 0.00002
NM_003793.4(CTSF):c.1230+14C>T rs759960583 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_022089.4(ATP13A2):c.1196-9C>T rs747077419 0.00002
NM_022089.4(ATP13A2):c.1307-14C>T rs370771306 0.00002
NM_022089.4(ATP13A2):c.1341C>T (p.Leu447=) rs1032082452 0.00002
NM_022089.4(ATP13A2):c.1704C>T (p.Pro568=) rs200868484 0.00002
NM_022089.4(ATP13A2):c.1900C>G (p.Leu634Val) rs543531903 0.00002
NM_022089.4(ATP13A2):c.2285G>A (p.Arg762Gln) rs766899425 0.00002
NM_022089.4(ATP13A2):c.244C>T (p.Leu82=) rs761558105 0.00002
NM_022089.4(ATP13A2):c.2634C>T (p.Asp878=) rs556418739 0.00002
NM_022089.4(ATP13A2):c.2723C>T (p.Ser908Leu) rs763069105 0.00002
NM_022089.4(ATP13A2):c.3405+10G>A rs375485447 0.00002
NM_022089.4(ATP13A2):c.585C>T (p.Asp195=) rs765706877 0.00002
NM_022089.4(ATP13A2):c.777C>T (p.Tyr259=) rs780133367 0.00002
NM_022089.4(ATP13A2):c.975G>A (p.Gly325=) rs915404570 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
NM_153033.5(KCTD7):c.145-4C>T rs368755155 0.00002
NM_153033.5(KCTD7):c.195C>T (p.Arg65=) rs755849045 0.00002
NM_153033.5(KCTD7):c.369A>C (p.Arg123=) rs753658170 0.00002
NM_153033.5(KCTD7):c.439C>T (p.Leu147=) rs574847246 0.00002
NM_153033.5(KCTD7):c.493+14G>C rs886645555 0.00002
NM_153033.5(KCTD7):c.494-11C>T rs746601430 0.00002
NM_153033.5(KCTD7):c.494-14G>A rs1198171302 0.00002
NM_153033.5(KCTD7):c.534G>A (p.Ala178=) rs773060529 0.00002
NM_153033.5(KCTD7):c.594C>T (p.Pro198=) rs749192199 0.00002
NM_153033.5(KCTD7):c.723T>G (p.Val241=) rs771832195 0.00002
NC_000013.11:g.76991969C>A rs1439964955 0.00001
NC_000013.11:g.76991975G>A rs751533177 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_000310.4(PPT1):c.125-5G>A rs777893002 0.00001
NM_000310.4(PPT1):c.12C>T (p.Pro4=) rs140289866 0.00001
NM_000310.4(PPT1):c.145T>C (p.Leu49=) rs375188207 0.00001
NM_000310.4(PPT1):c.159T>C (p.Ala53=) rs1340441165 0.00001
NM_000310.4(PPT1):c.15C>T (p.Gly5=) rs749621114 0.00001
NM_000310.4(PPT1):c.177G>A (p.Glu59=) rs1322148659 0.00001
NM_000310.4(PPT1):c.18C>T (p.Cys6=) rs765938149 0.00001
NM_000310.4(PPT1):c.225C>T (p.Thr75=) rs1477732757 0.00001
NM_000310.4(PPT1):c.234+18T>C rs372965402 0.00001
NM_000310.4(PPT1):c.288T>C (p.Cys96=) rs375820734 0.00001
NM_000310.4(PPT1):c.426A>G (p.Gln142=) rs759480265 0.00001
NM_000310.4(PPT1):c.42C>T (p.Leu14=) rs371884332 0.00001
NM_000310.4(PPT1):c.433+11C>T rs535946203 0.00001
NM_000310.4(PPT1):c.435T>A (p.Gly145=) rs768915314 0.00001
NM_000310.4(PPT1):c.43C>T (p.Leu15=) rs1057522283 0.00001
NM_000310.4(PPT1):c.48A>G (p.Pro16=) rs1003007171 0.00001
NM_000310.4(PPT1):c.537-4A>G rs587781120 0.00001
NM_000310.4(PPT1):c.540C>T (p.Leu180=) rs375858133 0.00001
NM_000310.4(PPT1):c.54C>T (p.Thr18=) rs772052570 0.00001
NM_000310.4(PPT1):c.600C>T (p.Ile200=) rs767606363 0.00001
NM_000310.4(PPT1):c.627+15C>T rs566932238 0.00001
NM_000310.4(PPT1):c.628-10T>C rs557560550 0.00001
NM_000310.4(PPT1):c.628-8T>C rs758512449 0.00001
NM_000310.4(PPT1):c.639G>A (p.Glu213=) rs751303272 0.00001
NM_000310.4(PPT1):c.63T>C (p.Ser21=) rs774746695 0.00001
NM_000310.4(PPT1):c.678G>A (p.Val226=) rs1481792811 0.00001
NM_000310.4(PPT1):c.696T>C (p.Asn232=) rs746776515 0.00001
NM_000310.4(PPT1):c.717A>T (p.Val239=) rs1263161320 0.00001
NM_000310.4(PPT1):c.723G>A (p.Ser241=) rs778863462 0.00001
NM_000310.4(PPT1):c.732T>C (p.Phe244=) rs559580128 0.00001
NM_000310.4(PPT1):c.750C>A (p.Gly250=) rs1244256818 0.00001
NM_000310.4(PPT1):c.799-16G>C rs1294889179 0.00001
NM_000310.4(PPT1):c.900C>T (p.His300=) rs747432731 0.00001
NM_000310.4(PPT1):c.99G>A (p.Leu33=) rs1294056746 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_001371596.2(MFSD8):c.1035C>T (p.Ile345=) rs141422574 0.00001
NM_001371596.2(MFSD8):c.1102+9A>G rs766114843 0.00001
NM_001371596.2(MFSD8):c.1206G>A (p.Ser402=) rs772377066 0.00001
NM_001371596.2(MFSD8):c.1218C>T (p.Ala406=) rs753832653 0.00001
NM_001371596.2(MFSD8):c.1351-10C>T rs1419970423 0.00001
NM_001371596.2(MFSD8):c.1351-6C>T rs1288349006 0.00001
NM_001371596.2(MFSD8):c.1416C>T (p.Ile472=) rs1473670776 0.00001
NM_001371596.2(MFSD8):c.1461G>A (p.Leu487=) rs1736221866 0.00001
NM_001371596.2(MFSD8):c.154+11G>T rs373643838 0.00001
NM_001371596.2(MFSD8):c.156G>T (p.Gly52=) rs753433200 0.00001
NM_001371596.2(MFSD8):c.15G>A (p.Arg5=) rs762559863 0.00001
NM_001371596.2(MFSD8):c.162T>G (p.Ser54=) rs777277246 0.00001
NM_001371596.2(MFSD8):c.207G>A (p.Pro69=) rs781051390 0.00001
NM_001371596.2(MFSD8):c.219A>G (p.Thr73=) rs143654391 0.00001
NM_001371596.2(MFSD8):c.270T>A (p.Ala90=) rs754809138 0.00001
NM_001371596.2(MFSD8):c.27A>G (p.Glu9=) rs1216544839 0.00001
NM_001371596.2(MFSD8):c.288A>G (p.Leu96=) rs1008821019 0.00001
NM_001371596.2(MFSD8):c.300T>C (p.Tyr100=) rs754739634 0.00001
NM_001371596.2(MFSD8):c.306A>G (p.Pro102=) rs746201253 0.00001
NM_001371596.2(MFSD8):c.315G>A (p.Glu105=) rs1740610356 0.00001
NM_001371596.2(MFSD8):c.421T>C (p.Leu141=) rs778330834 0.00001
NM_001371596.2(MFSD8):c.531A>G (p.Ala177=) rs376733427 0.00001
NM_001371596.2(MFSD8):c.544C>T (p.Leu182=) rs929058333 0.00001
NM_001371596.2(MFSD8):c.54T>G (p.Pro18=) rs1243416801 0.00001
NM_001371596.2(MFSD8):c.63-9T>C rs754893282 0.00001
NM_001371596.2(MFSD8):c.651C>T (p.Ser217=) rs1298333228 0.00001
NM_001371596.2(MFSD8):c.681G>T (p.Leu227=) rs754149229 0.00001
NM_001371596.2(MFSD8):c.6C>T (p.Ala2=) rs1261295844 0.00001
NM_001371596.2(MFSD8):c.714T>C (p.Asp238=) rs1012101360 0.00001
NM_001371596.2(MFSD8):c.726A>G (p.Arg242=) rs753174925 0.00001
NM_001371596.2(MFSD8):c.72C>T (p.Asp24=) rs775812921 0.00001
NM_001371596.2(MFSD8):c.755-6C>T rs752118814 0.00001
NM_001371596.2(MFSD8):c.774G>A (p.Gln258=) rs773465316 0.00001
NM_001371596.2(MFSD8):c.807T>A (p.Val269=) rs1199001687 0.00001
NM_001371596.2(MFSD8):c.813C>T (p.Ala271=) rs768499490 0.00001
NM_001371596.2(MFSD8):c.840A>G (p.Leu280=) rs199982542 0.00001
NM_001371596.2(MFSD8):c.852C>T (p.Ala284=) rs1405791431 0.00001
NM_001371596.2(MFSD8):c.863+8T>C rs766959611 0.00001
NM_001371596.2(MFSD8):c.864-4T>C rs1487175945 0.00001
NM_001371596.2(MFSD8):c.876A>G (p.Pro292=) rs770483205 0.00001
NM_001371596.2(MFSD8):c.897C>T (p.Ala299=) rs747352043 0.00001
NM_001371596.2(MFSD8):c.927T>C (p.Asn309=) rs1217108120 0.00001
NM_001371596.2(MFSD8):c.954T>C (p.Val318=) rs1299370477 0.00001
NM_001371596.2(MFSD8):c.960C>T (p.Ala320=) rs376954943 0.00001
NM_001371596.2(MFSD8):c.975A>G (p.Leu325=) rs570989221 0.00001
NM_001371596.2(MFSD8):c.999-12G>A rs766315917 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_002087.4(GRN):c.1125C>T (p.Ser375=) rs569994549 0.00001
NM_002087.4(GRN):c.1146G>A (p.Thr382=) rs200308105 0.00001
NM_002087.4(GRN):c.1180-16C>A rs1167667946 0.00001
NM_002087.4(GRN):c.1180-8C>T rs774308165 0.00001
NM_002087.4(GRN):c.1221C>A (p.Gly407=) rs201630084 0.00001
NM_002087.4(GRN):c.1269G>A (p.Val423=) rs1472989013 0.00001
NM_002087.4(GRN):c.1425C>T (p.Cys475=) rs63751104 0.00001
NM_002087.4(GRN):c.1521C>T (p.Phe507=) rs140070738 0.00001
NM_002087.4(GRN):c.498G>A (p.Pro166=) rs141873754 0.00001
NM_002087.4(GRN):c.54G>A (p.Thr18=) rs753160641 0.00001
NM_002087.4(GRN):c.627G>A (p.Pro209=) rs374385285 0.00001
NM_002087.4(GRN):c.69T>C (p.Gly23=) rs756420341 0.00001
NM_002087.4(GRN):c.708C>T (p.Asn236=) rs63750744 0.00001
NM_002087.4(GRN):c.709-8C>T rs373210564 0.00001
NM_002087.4(GRN):c.804G>A (p.Thr268=) rs63750229 0.00001
NM_002087.4(GRN):c.891C>T (p.Cys297=) rs1341898712 0.00001
NM_002087.4(GRN):c.933+7del rs762910178 0.00001
NM_002087.4(GRN):c.990G>A (p.Thr330=) rs375066213 0.00001
NM_003793.4(CTSF):c.213+20G>A rs1046921955 0.00001
NM_003793.4(CTSF):c.246C>A (p.Ala82=) rs756262196 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_022089.4(ATP13A2):c.111C>T (p.Leu37=) rs1331180219 0.00001
NM_022089.4(ATP13A2):c.1167G>A (p.Pro389=) rs776283025 0.00001
NM_022089.4(ATP13A2):c.1170C>T (p.His390=) rs201661480 0.00001
NM_022089.4(ATP13A2):c.1195+18G>C rs750278758 0.00001
NM_022089.4(ATP13A2):c.1233C>A (p.Ile411=) rs748487085 0.00001
NM_022089.4(ATP13A2):c.1234T>C (p.Leu412=) rs2077128030 0.00001
NM_022089.4(ATP13A2):c.1296C>T (p.Leu432=) rs1196631888 0.00001
NM_022089.4(ATP13A2):c.1307-13G>A rs754572673 0.00001
NM_022089.4(ATP13A2):c.1314C>A (p.Leu438=) rs764435162 0.00001
NM_022089.4(ATP13A2):c.1377C>T (p.Ile459=) rs1570823082 0.00001
NM_022089.4(ATP13A2):c.1437G>A (p.Val479=) rs367695021 0.00001
NM_022089.4(ATP13A2):c.1543-15_1543-12del rs753702273 0.00001
NM_022089.4(ATP13A2):c.1563C>T (p.Asp521=) rs777948791 0.00001
NM_022089.4(ATP13A2):c.1663C>T (p.Leu555=) rs1208562568 0.00001
NM_022089.4(ATP13A2):c.1710C>T (p.Gly570=) rs1049938065 0.00001
NM_022089.4(ATP13A2):c.1755G>A (p.Leu585=) rs200184146 0.00001
NM_022089.4(ATP13A2):c.1845+15G>A rs750975658 0.00001
NM_022089.4(ATP13A2):c.1857G>A (p.Pro619=) rs1187762774 0.00001
NM_022089.4(ATP13A2):c.1869C>T (p.Ser623=) rs757800272 0.00001
NM_022089.4(ATP13A2):c.2013C>T (p.Thr671=) rs1176219513 0.00001
NM_022089.4(ATP13A2):c.2049T>C (p.Ala683=) rs769153783 0.00001
NM_022089.4(ATP13A2):c.2061C>T (p.Val687=) rs370622481 0.00001
NM_022089.4(ATP13A2):c.2083C>T (p.Leu695=) rs757300078 0.00001
NM_022089.4(ATP13A2):c.208C>T (p.Leu70=) rs757911860 0.00001
NM_022089.4(ATP13A2):c.2119C>T (p.Leu707=) rs762570626 0.00001
NM_022089.4(ATP13A2):c.2133T>C (p.Thr711=) rs751346349 0.00001
NM_022089.4(ATP13A2):c.2199G>A (p.Thr733=) rs1269645931 0.00001
NM_022089.4(ATP13A2):c.219G>A (p.Val73=) rs1469953920 0.00001
NM_022089.4(ATP13A2):c.2221A>C (p.Arg741=) rs754926284 0.00001
NM_022089.4(ATP13A2):c.2252-11A>G rs775547036 0.00001
NM_022089.4(ATP13A2):c.2340C>T (p.His780=) rs769392537 0.00001
NM_022089.4(ATP13A2):c.2397C>T (p.Ala799=) rs772920644 0.00001
NM_022089.4(ATP13A2):c.24C>T (p.Leu8=) rs1460426486 0.00001
NM_022089.4(ATP13A2):c.2609+10C>T rs759204814 0.00001
NM_022089.4(ATP13A2):c.2628C>T (p.Cys876=) rs561561604 0.00001
NM_022089.4(ATP13A2):c.264C>T (p.Leu88=) rs554781874 0.00001
NM_022089.4(ATP13A2):c.2673C>T (p.Val891=) rs764639673 0.00001
NM_022089.4(ATP13A2):c.2820C>T (p.Tyr940=) rs765560804 0.00001
NM_022089.4(ATP13A2):c.288+16A>T rs1385104135 0.00001
NM_022089.4(ATP13A2):c.2919A>G (p.Thr973=) rs149403933 0.00001
NM_022089.4(ATP13A2):c.2943G>A (p.Thr981=) rs746372968 0.00001
NM_022089.4(ATP13A2):c.3000C>T (p.Pro1000=) rs1260261642 0.00001
NM_022089.4(ATP13A2):c.3081A>G (p.Pro1027=) rs374690625 0.00001
NM_022089.4(ATP13A2):c.3174C>T (p.Tyr1058=) rs777045615 0.00001
NM_022089.4(ATP13A2):c.3235+15G>A rs761031832 0.00001
NM_022089.4(ATP13A2):c.39C>T (p.Pro13=) rs752127537 0.00001
NM_022089.4(ATP13A2):c.423C>T (p.Ala141=) rs1258288001 0.00001
NM_022089.4(ATP13A2):c.429G>A (p.Lys143=) rs1391689725 0.00001
NM_022089.4(ATP13A2):c.435G>A (p.Thr145=) rs201154350 0.00001
NM_022089.4(ATP13A2):c.471C>T (p.Val157=) rs762608323 0.00001
NM_022089.4(ATP13A2):c.635+19C>T rs746266493 0.00001
NM_022089.4(ATP13A2):c.636-7C>T rs762753391 0.00001
NM_022089.4(ATP13A2):c.648C>T (p.Tyr216=) rs769405638 0.00001
NM_022089.4(ATP13A2):c.69A>G (p.Thr23=) rs1196381069 0.00001
NM_022089.4(ATP13A2):c.706-4C>A rs2077315863 0.00001
NM_022089.4(ATP13A2):c.723T>C (p.Tyr241=) rs1373279122 0.00001
NM_022089.4(ATP13A2):c.786C>T (p.Cys262=) rs1237741171 0.00001
NM_022089.4(ATP13A2):c.846C>T (p.Ser282=) rs762440899 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
NM_153033.5(KCTD7):c.144+19G>A rs998736066 0.00001
NM_153033.5(KCTD7):c.15G>C (p.Thr5=) rs1410806588 0.00001
NM_153033.5(KCTD7):c.258C>T (p.Tyr86=) rs749010969 0.00001
NM_153033.5(KCTD7):c.264C>T (p.Pro88=) rs985251877 0.00001
NM_153033.5(KCTD7):c.342G>A (p.Gly114=) rs145152329 0.00001
NM_153033.5(KCTD7):c.402C>T (p.Ile134=) rs754958440 0.00001
NM_153033.5(KCTD7):c.447C>T (p.Gly149=) rs767984903 0.00001
NM_153033.5(KCTD7):c.750G>A (p.Thr250=) rs374256335 0.00001
NM_153033.5(KCTD7):c.774C>T (p.Thr258=) rs751953589 0.00001
NM_153033.5(KCTD7):c.792C>T (p.Ile264=) rs368680616 0.00001
NM_153033.5(KCTD7):c.813C>T (p.Leu271=) rs766332054 0.00001
NM_153033.5(KCTD7):c.81T>C (p.Phe27=) rs1007276581 0.00001
NM_153033.5(KCTD7):c.861A>G (p.Thr287=) rs367591875 0.00001
NC_000007.13:g.(?_66103220)_(66104219_?)dup
NC_000007.13:g.(?_66103220)_(66105401_?)dup
NC_000007.13:g.(?_66103230)_(66104219_?)dup
NC_000013.11:g.76991953T>A rs201615354
NC_000013.11:g.76991957C>G
NC_000013.11:g.76991960G>A rs1389856811
NC_000013.11:g.76991966G>A rs949252072
NC_000013.11:g.76991966G>C
NC_000013.11:g.76991969C>G rs1439964955
NC_000013.11:g.76991970T>C
NC_000013.11:g.76991975G>T
NC_000013.11:g.76991984T>C
NC_000013.11:g.76991987A>C
NC_000013.11:g.76991987A>T
NC_000013.11:g.76991990T>C
NC_000013.11:g.76991993C>T rs1259746826
NC_000013.11:g.76991996G>A
NC_000013.11:g.76991996G>C
NC_000013.11:g.76991999G>A
NC_000013.11:g.76992002G>A
NC_000013.11:g.76992002G>C rs763032153
NC_000013.11:g.76992002G>T
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>A
NC_000013.11:g.76992029G>C rs2154034206
NC_000013.11:g.76992029G>T
NC_000013.11:g.76992050A>C rs1447037153
NC_000013.11:g.76992053G>A
NC_000013.11:g.76992053G>C
NC_000013.11:g.76992056G>A rs2154034220
NC_000013.11:g.76992059G>T rs1413474600
NC_000013.11:g.76992062G>A rs1593906853
NC_000013.11:g.76992065C>G rs2154034221
NC_000013.11:g.76992068G>A
NC_000013.11:g.76992068G>T rs779934262
NC_000013.11:g.76992071A>G
NC_000013.11:g.76992080A>G
NM_000310.4(PPT1):c.102G>C (p.Pro34=)
NM_000310.4(PPT1):c.108G>T (p.Val36=) rs2124494393
NM_000310.4(PPT1):c.120G>A (p.Gly40=)
NM_000310.4(PPT1):c.124+12A>G
NM_000310.4(PPT1):c.124+13G>A
NM_000310.4(PPT1):c.124+14A>G
NM_000310.4(PPT1):c.124+15A>T
NM_000310.4(PPT1):c.124+19T>G
NM_000310.4(PPT1):c.124+20A>G
NM_000310.4(PPT1):c.124+2TGAG[2] rs768863525
NM_000310.4(PPT1):c.124+7G>T rs1649898430
NM_000310.4(PPT1):c.124+8A>C
NM_000310.4(PPT1):c.124+9G>C
NM_000310.4(PPT1):c.125-14G>A
NM_000310.4(PPT1):c.125-18T>C
NM_000310.4(PPT1):c.125-19A>G
NM_000310.4(PPT1):c.125-6G>C
NM_000310.4(PPT1):c.125-9G>A
NM_000310.4(PPT1):c.138C>T (p.Cys46=)
NM_000310.4(PPT1):c.144C>T (p.Pro48=) rs1265214190
NM_000310.4(PPT1):c.147A>G (p.Leu49=) rs781048683
NM_000310.4(PPT1):c.150C>T (p.Ser50=) rs1649625101
NM_000310.4(PPT1):c.183A>G (p.Lys61=)
NM_000310.4(PPT1):c.189T>C (p.Pro63=)
NM_000310.4(PPT1):c.19C>T (p.Leu7=)
NM_000310.4(PPT1):c.213G>A (p.Glu71=) rs2124488338
NM_000310.4(PPT1):c.216T>C (p.Ile72=)
NM_000310.4(PPT1):c.219G>C (p.Gly73=)
NM_000310.4(PPT1):c.21G>A (p.Leu7=)
NM_000310.4(PPT1):c.228G>C (p.Leu76=)
NM_000310.4(PPT1):c.234+10T>A rs942502702
NM_000310.4(PPT1):c.234+13A>G
NM_000310.4(PPT1):c.234+7C>A rs200777536
NM_000310.4(PPT1):c.234+7C>G
NM_000310.4(PPT1):c.234+8G>A rs746750426
NM_000310.4(PPT1):c.234+8G>C
NM_000310.4(PPT1):c.234+8G>T rs746750426
NM_000310.4(PPT1):c.235-18C>T
NM_000310.4(PPT1):c.235-20C>T
NM_000310.4(PPT1):c.235-5T>C
NM_000310.4(PPT1):c.235-6T>C rs377208127
NM_000310.4(PPT1):c.235-7T>G
NM_000310.4(PPT1):c.235-8T>G rs776672029
NM_000310.4(PPT1):c.235-9C>A rs1206919819
NM_000310.4(PPT1):c.256T>C (p.Leu86=) rs1570470451
NM_000310.4(PPT1):c.258G>A (p.Leu86=) rs2124487930
NM_000310.4(PPT1):c.261T>C (p.Asn87=)
NM_000310.4(PPT1):c.264C>T (p.Val88=) rs2124487920
NM_000310.4(PPT1):c.267T>C (p.Asn89=)
NM_000310.4(PPT1):c.270C>T (p.Ser90=) rs2124487917
NM_000310.4(PPT1):c.276A>G (p.Val92=)
NM_000310.4(PPT1):c.27C>A (p.Leu9=)
NM_000310.4(PPT1):c.27C>G (p.Leu9=) rs765173260
NM_000310.4(PPT1):c.27C>T (p.Leu9=) rs765173260
NM_000310.4(PPT1):c.282A>T (p.Thr94=) rs753828114
NM_000310.4(PPT1):c.285G>A (p.Val95=) rs777865799
NM_000310.4(PPT1):c.309T>C (p.Pro103=)
NM_000310.4(PPT1):c.362+10T>A rs2124487685
NM_000310.4(PPT1):c.362+11T>C
NM_000310.4(PPT1):c.362+18dup
NM_000310.4(PPT1):c.362+19T>A rs558442488
NM_000310.4(PPT1):c.362+19T>C rs558442488
NM_000310.4(PPT1):c.362+20A>G
NM_000310.4(PPT1):c.362+8C>T rs2124487694
NM_000310.4(PPT1):c.362+9C>G
NM_000310.4(PPT1):c.362+9C>T rs753316381
NM_000310.4(PPT1):c.363-18C>T
NM_000310.4(PPT1):c.363-4G>C rs117284255
NM_000310.4(PPT1):c.363-4G>T rs117284255
NM_000310.4(PPT1):c.36G>A (p.Val12=)
NM_000310.4(PPT1):c.36G>T (p.Val12=)
NM_000310.4(PPT1):c.378G>A (p.Gln126=) rs2124486877
NM_000310.4(PPT1):c.384C>T (p.Cys128=) rs1014940109
NM_000310.4(PPT1):c.393T>C (p.Pro131=) rs1222439879
NM_000310.4(PPT1):c.411C>T (p.Ile137=)
NM_000310.4(PPT1):c.414G>A (p.Ser138=)
NM_000310.4(PPT1):c.414G>T (p.Ser138=)
NM_000310.4(PPT1):c.433+10C>T
NM_000310.4(PPT1):c.433+14T>C
NM_000310.4(PPT1):c.433+15_433+16del
NM_000310.4(PPT1):c.433+7_433+8del rs750997143
NM_000310.4(PPT1):c.433+9G>A
NM_000310.4(PPT1):c.433+9G>C rs1649550153
NM_000310.4(PPT1):c.434-10A>G
NM_000310.4(PPT1):c.434-14A>G rs1355083951
NM_000310.4(PPT1):c.434-7A>G
NM_000310.4(PPT1):c.441T>C (p.Phe147=) rs1258668425
NM_000310.4(PPT1):c.444A>G (p.Gly148=)
NM_000310.4(PPT1):c.447C>T (p.Leu149=)
NM_000310.4(PPT1):c.456C>T (p.Cys152=)
NM_000310.4(PPT1):c.459A>G (p.Pro153=)
NM_000310.4(PPT1):c.45G>T (p.Leu15=)
NM_000310.4(PPT1):c.474C>T (p.His158=) rs549251715
NM_000310.4(PPT1):c.480T>C (p.Cys160=) rs2124484321
NM_000310.4(PPT1):c.489C>A (p.Ile163=) rs1649438329
NM_000310.4(PPT1):c.48A>T (p.Pro16=)
NM_000310.4(PPT1):c.492A>G (p.Arg164=)
NM_000310.4(PPT1):c.498A>C (p.Thr166=)
NM_000310.4(PPT1):c.499C>T (p.Leu167=)
NM_000310.4(PPT1):c.501G>C (p.Leu167=)
NM_000310.4(PPT1):c.507T>C (p.Ala169=)
NM_000310.4(PPT1):c.513G>T (p.Ala171=)
NM_000310.4(PPT1):c.534A>G (p.Glu178=)
NM_000310.4(PPT1):c.536+10G>A rs1293510783
NM_000310.4(PPT1):c.536+18A>C
NM_000310.4(PPT1):c.536+20A>G
NM_000310.4(PPT1):c.536+7A>G rs960897155
NM_000310.4(PPT1):c.536+8T>C
NM_000310.4(PPT1):c.536+8T>G
NM_000310.4(PPT1):c.537-12T>G
NM_000310.4(PPT1):c.537-13T>C
NM_000310.4(PPT1):c.537-15T>C
NM_000310.4(PPT1):c.537-15T>G
NM_000310.4(PPT1):c.537-17C>G
NM_000310.4(PPT1):c.537-8T>A
NM_000310.4(PPT1):c.537-8T>G
NM_000310.4(PPT1):c.537-9T>C rs1196766699
NM_000310.4(PPT1):c.549C>T (p.Ala183=) rs1408279040
NM_000310.4(PPT1):c.555C>T (p.Tyr185=) rs2124474560
NM_000310.4(PPT1):c.579T>C (p.Asp193=)
NM_000310.4(PPT1):c.57C>T (p.Cys19=)
NM_000310.4(PPT1):c.582G>A (p.Val194=)
NM_000310.4(PPT1):c.588C>T (p.Arg196=)
NM_000310.4(PPT1):c.594C>T (p.His198=)
NM_000310.4(PPT1):c.600C>A (p.Ile200=) rs767606363
NM_000310.4(PPT1):c.604T>C (p.Leu202=)
NM_000310.4(PPT1):c.606G>A (p.Leu202=)
NM_000310.4(PPT1):c.60T>C (p.Ala20=)
NM_000310.4(PPT1):c.627+10C>G
NM_000310.4(PPT1):c.627+12A>T
NM_000310.4(PPT1):c.627+15C>G
NM_000310.4(PPT1):c.627+16G>C
NM_000310.4(PPT1):c.627+18del
NM_000310.4(PPT1):c.628-11C>A
NM_000310.4(PPT1):c.628-15T>G rs2124472415
NM_000310.4(PPT1):c.628-15_628-12del
NM_000310.4(PPT1):c.628-19T>A
NM_000310.4(PPT1):c.628-3dup
NM_000310.4(PPT1):c.628-5T>G
NM_000310.4(PPT1):c.628-9_628-8delinsGC rs2124472401
NM_000310.4(PPT1):c.630T>C (p.Gly210=) rs1402937226
NM_000310.4(PPT1):c.651A>G (p.Lys217=) rs1553166517
NM_000310.4(PPT1):c.669G>A (p.Lys223=)
NM_000310.4(PPT1):c.678G>C (p.Val226=)
NM_000310.4(PPT1):c.690C>T (p.Phe230=) rs1648754113
NM_000310.4(PPT1):c.693C>G (p.Leu231=) rs2124472262
NM_000310.4(PPT1):c.693C>T (p.Leu231=) rs2124472262
NM_000310.4(PPT1):c.6G>C (p.Ala2=) rs587781121
NM_000310.4(PPT1):c.702C>T (p.Ser234=)
NM_000310.4(PPT1):c.705T>C (p.Ile235=) rs1057515448
NM_000310.4(PPT1):c.711C>T (p.Asp237=)
NM_000310.4(PPT1):c.717A>G (p.Val239=) rs1263161320
NM_000310.4(PPT1):c.723G>T (p.Ser241=)
NM_000310.4(PPT1):c.726+13T>C rs1012254796
NM_000310.4(PPT1):c.726+17G>A rs757350622
NM_000310.4(PPT1):c.726+18C>T
NM_000310.4(PPT1):c.726+19C>T
NM_000310.4(PPT1):c.726+8A>G rs1648749980
NM_000310.4(PPT1):c.726+9C>G rs1024088820
NM_000310.4(PPT1):c.727-10T>G rs554894547
NM_000310.4(PPT1):c.727-11_727-3del rs2124470397
NM_000310.4(PPT1):c.727-17C>T
NM_000310.4(PPT1):c.727-18C>G
NM_000310.4(PPT1):c.72G>A (p.Leu24=)
NM_000310.4(PPT1):c.72G>C (p.Leu24=)
NM_000310.4(PPT1):c.741C>T (p.Tyr247=)
NM_000310.4(PPT1):c.744A>G (p.Arg248=) rs2124470357
NM_000310.4(PPT1):c.771C>A (p.Pro257=) rs1321890707
NM_000310.4(PPT1):c.798+12G>A
NM_000310.4(PPT1):c.798+13del
NM_000310.4(PPT1):c.798+14A>G
NM_000310.4(PPT1):c.798+7_798+22del rs2124470212
NM_000310.4(PPT1):c.799-11T>G
NM_000310.4(PPT1):c.799-12T>C
NM_000310.4(PPT1):c.799-18T>C
NM_000310.4(PPT1):c.799-19A>G
NM_000310.4(PPT1):c.799-22_799-19del
NM_000310.4(PPT1):c.799-4G>A
NM_000310.4(PPT1):c.799-6C>G
NM_000310.4(PPT1):c.799-7T>C
NM_000310.4(PPT1):c.799-8T>C
NM_000310.4(PPT1):c.799-9C>A
NM_000310.4(PPT1):c.799-9C>T
NM_000310.4(PPT1):c.810G>A (p.Gly270=) rs371213189
NM_000310.4(PPT1):c.810G>T (p.Gly270=)
NM_000310.4(PPT1):c.813A>G (p.Leu271=) rs2124465658
NM_000310.4(PPT1):c.819A>G (p.Glu273=) rs2124465651
NM_000310.4(PPT1):c.81G>A (p.Leu27=)
NM_000310.4(PPT1):c.828T>C (p.Asn276=) rs1648440502
NM_000310.4(PPT1):c.838C>T (p.Leu280=)
NM_000310.4(PPT1):c.840A>G (p.Leu280=) rs769125787
NM_000310.4(PPT1):c.843G>A (p.Val281=) rs1337941065
NM_000310.4(PPT1):c.849G>A (p.Leu283=)
NM_000310.4(PPT1):c.870T>A (p.Leu290=)
NM_000310.4(PPT1):c.873G>A (p.Gln291=)
NM_000310.4(PPT1):c.879T>A (p.Ser293=)
NM_000310.4(PPT1):c.885A>G (p.Glu295=) rs2124465517
NM_000310.4(PPT1):c.894T>C (p.Tyr298=) rs781759073
NM_000310.4(PPT1):c.897C>A (p.Ala299=) rs2124465491
NM_000310.4(PPT1):c.909A>G (p.Pro303=) rs1570448364
NM_000310.4(PPT1):c.97C>T (p.Leu33=)
NM_000310.4(PPT1):c.9G>C (p.Ser3=)
NM_001042432.2(CLN3):c.1011C>T (p.Leu337=)
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>C (p.Pro369=) rs2141694275
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.1197+8_1197+10del
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.1248C>T (p.Asp416=)
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.126-20A>G
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.1264C>T (p.Leu422=)
NM_001042432.2(CLN3):c.1266G>A (p.Leu422=)
NM_001042432.2(CLN3):c.1272G>A (p.Gly424=) rs2141693473
NM_001042432.2(CLN3):c.1278G>A (p.Leu426=)
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.1314C>G (p.Ser438=)
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.210A>C (p.Gly70=)
NM_001042432.2(CLN3):c.213C>T (p.Asn71=) rs1460944418
NM_001042432.2(CLN3):c.216G>A (p.Gln72=)
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.223-20A>G
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.223-9T>C
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.27G>A (p.Arg9=)
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+16A>T
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.375-12T>A
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.375-9C>T
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.417C>T (p.Phe139=)
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.461-13G>A
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+14G>C
NM_001042432.2(CLN3):c.533+15C>T
NM_001042432.2(CLN3):c.533+19del
NM_001042432.2(CLN3):c.534-11C>T
NM_001042432.2(CLN3):c.534-17T>C
NM_001042432.2(CLN3):c.534-18C>T rs1310342698
NM_001042432.2(CLN3):c.534-20T>A rs1209961868
NM_001042432.2(CLN3):c.534-5C>T
NM_001042432.2(CLN3):c.534-7T>C
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>A (p.Thr188=)
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+8G>T
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.708C>G (p.Ala236=)
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.717T>G (p.Pro239=)
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.838-10C>T
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+15C>G
NM_001042432.2(CLN3):c.906+16T>C rs2141703636
NM_001042432.2(CLN3):c.906+17A>G
NM_001042432.2(CLN3):c.906+18G>A rs2046115412
NM_001042432.2(CLN3):c.906+18G>C
NM_001042432.2(CLN3):c.906+20A>C
NM_001042432.2(CLN3):c.906+9G>C rs1191183887
NM_001042432.2(CLN3):c.907-12T>C
NM_001042432.2(CLN3):c.907-17T>A
NM_001042432.2(CLN3):c.907-18G>A
NM_001042432.2(CLN3):c.907-20_907-19del
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_001371596.2(MFSD8):c.1002T>C (p.Ile334=)
NM_001371596.2(MFSD8):c.1005C>A (p.Gly335=) rs772735057
NM_001371596.2(MFSD8):c.1005C>T (p.Gly335=)
NM_001371596.2(MFSD8):c.1008G>A (p.Glu336=)
NM_001371596.2(MFSD8):c.1014T>A (p.Ala338=) rs2148841418
NM_001371596.2(MFSD8):c.1020A>C (p.Leu340=)
NM_001371596.2(MFSD8):c.1029A>G (p.Gly343=) rs1220404877
NM_001371596.2(MFSD8):c.1029A>T (p.Gly343=)
NM_001371596.2(MFSD8):c.102C>T (p.Ser34=) rs139212190
NM_001371596.2(MFSD8):c.1032C>T (p.Leu344=)
NM_001371596.2(MFSD8):c.1047T>G (p.Val349=) rs2148841201
NM_001371596.2(MFSD8):c.1050C>T (p.Gly350=) rs2148841187
NM_001371596.2(MFSD8):c.105A>G (p.Arg35=)
NM_001371596.2(MFSD8):c.105A>T (p.Arg35=)
NM_001371596.2(MFSD8):c.1060T>C (p.Leu354=) rs2148841165
NM_001371596.2(MFSD8):c.1086C>G (p.Pro362=)
NM_001371596.2(MFSD8):c.1095G>A (p.Gln365=) rs1578795529
NM_001371596.2(MFSD8):c.10C>T (p.Leu4=)
NM_001371596.2(MFSD8):c.1102+11A>T
NM_001371596.2(MFSD8):c.1102+12C>T
NM_001371596.2(MFSD8):c.1102+14T>C rs765323039
NM_001371596.2(MFSD8):c.1102+18T>A
NM_001371596.2(MFSD8):c.1103-10_1103-8del
NM_001371596.2(MFSD8):c.1103-18A>T
NM_001371596.2(MFSD8):c.1103-4A>G
NM_001371596.2(MFSD8):c.1103-5T>C rs2148840518
NM_001371596.2(MFSD8):c.1103-9T>G
NM_001371596.2(MFSD8):c.1131C>T (p.Thr377=) rs760689362
NM_001371596.2(MFSD8):c.1140G>T (p.Gly380=)
NM_001371596.2(MFSD8):c.1146T>A (p.Ile382=) rs2148840260
NM_001371596.2(MFSD8):c.1149T>C (p.Ile383=)
NM_001371596.2(MFSD8):c.114T>C (p.Ser38=) rs2148972697
NM_001371596.2(MFSD8):c.1155T>C (p.Gly385=) rs1736362173
NM_001371596.2(MFSD8):c.1170A>G (p.Pro390=) rs2148840190
NM_001371596.2(MFSD8):c.1179T>C (p.Asp393=)
NM_001371596.2(MFSD8):c.1188A>G (p.Glu396=)
NM_001371596.2(MFSD8):c.1206G>T (p.Ser402=) rs772377066
NM_001371596.2(MFSD8):c.1227C>T (p.Leu409=)
NM_001371596.2(MFSD8):c.1230C>T (p.Tyr410=) rs1057520928
NM_001371596.2(MFSD8):c.1236G>C (p.Pro412=)
NM_001371596.2(MFSD8):c.1248G>A (p.Leu416=)
NM_001371596.2(MFSD8):c.1257C>T (p.Phe419=) rs750743360
NM_001371596.2(MFSD8):c.1263A>G (p.Thr421=)
NM_001371596.2(MFSD8):c.1266A>G (p.Ser422=)
NM_001371596.2(MFSD8):c.126A>G (p.Leu42=)
NM_001371596.2(MFSD8):c.1273C>T (p.Leu425=)
NM_001371596.2(MFSD8):c.1287C>G (p.Gly429=)
NM_001371596.2(MFSD8):c.12G>A (p.Leu4=)
NM_001371596.2(MFSD8):c.1314T>C (p.Tyr438=) rs2148839504
NM_001371596.2(MFSD8):c.1317T>A (p.Thr439=)
NM_001371596.2(MFSD8):c.1323T>C (p.Tyr441=)
NM_001371596.2(MFSD8):c.1344A>G (p.Lys448=)
NM_001371596.2(MFSD8):c.1350+14C>A rs1311770324
NM_001371596.2(MFSD8):c.1350+16T>C
NM_001371596.2(MFSD8):c.1350+17G>A
NM_001371596.2(MFSD8):c.1350+19C>T
NM_001371596.2(MFSD8):c.1350+8A>G rs1736330551
NM_001371596.2(MFSD8):c.1351-11_1351-10insAT
NM_001371596.2(MFSD8):c.1351-5A>G rs1560716066
NM_001371596.2(MFSD8):c.1351-7C>A
NM_001371596.2(MFSD8):c.1351-7C>T
NM_001371596.2(MFSD8):c.1351-9C>G
NM_001371596.2(MFSD8):c.1383A>C (p.Gly461=)
NM_001371596.2(MFSD8):c.1392C>T (p.Ala464=)
NM_001371596.2(MFSD8):c.1401T>A (p.Leu467=)
NM_001371596.2(MFSD8):c.1404G>C (p.Gly468=) rs2148837253
NM_001371596.2(MFSD8):c.1416C>A (p.Ile472=)
NM_001371596.2(MFSD8):c.1425G>A (p.Val475=) rs1736226991
NM_001371596.2(MFSD8):c.1431T>G (p.Ala477=)
NM_001371596.2(MFSD8):c.1434C>T (p.His478=) rs2148837142
NM_001371596.2(MFSD8):c.144C>T (p.Leu48=) rs2148972539
NM_001371596.2(MFSD8):c.1452A>G (p.Ala484=) rs2148837080
NM_001371596.2(MFSD8):c.1458C>T (p.Ser486=)
NM_001371596.2(MFSD8):c.1470A>G (p.Gly490=) rs1477527807
NM_001371596.2(MFSD8):c.147C>T (p.Ser49=)
NM_001371596.2(MFSD8):c.1485C>T (p.Thr495=) rs2148836945
NM_001371596.2(MFSD8):c.1488C>A (p.Ile496=) rs2148836936
NM_001371596.2(MFSD8):c.1494C>T (p.Leu498=) rs769642042
NM_001371596.2(MFSD8):c.1495C>T (p.Leu499=) rs1553943451
NM_001371596.2(MFSD8):c.150T>C (p.Ser50=)
NM_001371596.2(MFSD8):c.1533A>G (p.Val511=) rs2148836761
NM_001371596.2(MFSD8):c.1539T>C (p.Tyr513=)
NM_001371596.2(MFSD8):c.154+11_154+13del
NM_001371596.2(MFSD8):c.154+13A>G
NM_001371596.2(MFSD8):c.154+17C>G
NM_001371596.2(MFSD8):c.154+17C>T
NM_001371596.2(MFSD8):c.154+19T>C rs1057521818
NM_001371596.2(MFSD8):c.154+7A>G rs2148972452
NM_001371596.2(MFSD8):c.154+8T>G rs2148972443
NM_001371596.2(MFSD8):c.155-10T>C
NM_001371596.2(MFSD8):c.155-10T>G rs1343380061
NM_001371596.2(MFSD8):c.155-11C>T
NM_001371596.2(MFSD8):c.155-12G>A
NM_001371596.2(MFSD8):c.155-18T>A
NM_001371596.2(MFSD8):c.155-19C>T
NM_001371596.2(MFSD8):c.155-19del
NM_001371596.2(MFSD8):c.155-20C>T rs2148944010
NM_001371596.2(MFSD8):c.155-8C>T rs2148943930
NM_001371596.2(MFSD8):c.155-8del
NM_001371596.2(MFSD8):c.155-9del rs1060504501
NM_001371596.2(MFSD8):c.1554A>G (p.Glu518=)
NM_001371596.2(MFSD8):c.1556A>G (p.Ter519=)
NM_001371596.2(MFSD8):c.162T>C (p.Ser54=)
NM_001371596.2(MFSD8):c.165A>G (p.Val55=)
NM_001371596.2(MFSD8):c.168G>T (p.Val56=) rs1741654669
NM_001371596.2(MFSD8):c.186A>C (p.Pro62=) rs750969105
NM_001371596.2(MFSD8):c.186A>T (p.Pro62=) rs750969105
NM_001371596.2(MFSD8):c.18C>T (p.Asn6=)
NM_001371596.2(MFSD8):c.192C>A (p.Leu64=) rs1741648648
NM_001371596.2(MFSD8):c.198+14A>T
NM_001371596.2(MFSD8):c.198+16T>A
NM_001371596.2(MFSD8):c.198+17C>A
NM_001371596.2(MFSD8):c.198+18T>G
NM_001371596.2(MFSD8):c.198+7A>G rs776834172
NM_001371596.2(MFSD8):c.199-12C>A
NM_001371596.2(MFSD8):c.199-12C>G
NM_001371596.2(MFSD8):c.199-13C>T rs1740632149
NM_001371596.2(MFSD8):c.199-16G>A rs971319854
NM_001371596.2(MFSD8):c.199-16G>C
NM_001371596.2(MFSD8):c.199-17T>C
NM_001371596.2(MFSD8):c.199-5T>C rs1578912790
NM_001371596.2(MFSD8):c.199-8T>G rs112721309
NM_001371596.2(MFSD8):c.199-8_199-7insGG rs2148922788
NM_001371596.2(MFSD8):c.204T>C (p.Asp68=)
NM_001371596.2(MFSD8):c.213T>C (p.Ala71=)
NM_001371596.2(MFSD8):c.216T>C (p.Asp72=)
NM_001371596.2(MFSD8):c.219A>C (p.Thr73=)
NM_001371596.2(MFSD8):c.225T>C (p.Phe75=) rs2148922604
NM_001371596.2(MFSD8):c.240T>C (p.Ile80=) rs1578912301
NM_001371596.2(MFSD8):c.246A>C (p.Ser82=)
NM_001371596.2(MFSD8):c.246A>G (p.Ser82=) rs2148922522
NM_001371596.2(MFSD8):c.249T>C (p.Tyr83=) rs2148922498
NM_001371596.2(MFSD8):c.24T>C (p.Ser8=) rs2149008674
NM_001371596.2(MFSD8):c.294T>A (p.Ser98=)
NM_001371596.2(MFSD8):c.306A>T (p.Pro102=) rs746201253
NM_001371596.2(MFSD8):c.348A>G (p.Ala116=) rs2148922108
NM_001371596.2(MFSD8):c.357C>T (p.Cys119=) rs1553950874
NM_001371596.2(MFSD8):c.360C>T (p.Leu120=) rs2148922029
NM_001371596.2(MFSD8):c.363T>C (p.Tyr121=)
NM_001371596.2(MFSD8):c.366A>G (p.Ala122=) rs1283789637
NM_001371596.2(MFSD8):c.36G>T (p.Pro12=) rs1053504874
NM_001371596.2(MFSD8):c.372C>T (p.Leu124=)
NM_001371596.2(MFSD8):c.375C>T (p.His125=) rs1578911454
NM_001371596.2(MFSD8):c.378C>T (p.Ile126=)
NM_001371596.2(MFSD8):c.381A>G (p.Pro127=)
NM_001371596.2(MFSD8):c.393T>C (p.Asn131=) rs1553950849
NM_001371596.2(MFSD8):c.39C>G (p.Leu13=)
NM_001371596.2(MFSD8):c.402C>T (p.Tyr134=)
NM_001371596.2(MFSD8):c.408G>T (p.Leu136=) rs1578911241
NM_001371596.2(MFSD8):c.411T>C (p.Val137=) rs201652718
NM_001371596.2(MFSD8):c.414T>G (p.Ala138=)
NM_001371596.2(MFSD8):c.420A>G (p.Gly140=)
NM_001371596.2(MFSD8):c.424T>C (p.Leu142=) rs2148921676
NM_001371596.2(MFSD8):c.42A>G (p.Leu14=)
NM_001371596.2(MFSD8):c.439+12T>G
NM_001371596.2(MFSD8):c.439+13G>A
NM_001371596.2(MFSD8):c.439+15A>G
NM_001371596.2(MFSD8):c.439+15A>T
NM_001371596.2(MFSD8):c.439+17A>G
NM_001371596.2(MFSD8):c.439+17_439+18del
NM_001371596.2(MFSD8):c.439+18T>C
NM_001371596.2(MFSD8):c.439+20_439+23del rs1740580816
NM_001371596.2(MFSD8):c.439+9G>T rs1339979382
NM_001371596.2(MFSD8):c.440-12C>T
NM_001371596.2(MFSD8):c.440-14G>A
NM_001371596.2(MFSD8):c.440-16G>A
NM_001371596.2(MFSD8):c.440-7T>A rs2148915878
NM_001371596.2(MFSD8):c.440-9G>A
NM_001371596.2(MFSD8):c.447A>G (p.Val149=)
NM_001371596.2(MFSD8):c.453T>C (p.Val151=) rs750205976
NM_001371596.2(MFSD8):c.459A>G (p.Arg153=) rs2148915775
NM_001371596.2(MFSD8):c.45C>A (p.Gly15=)
NM_001371596.2(MFSD8):c.462A>G (p.Ser154=) rs2148915757
NM_001371596.2(MFSD8):c.483C>T (p.Ser161=) rs2148915652
NM_001371596.2(MFSD8):c.525T>C (p.Cys175=) rs556661896
NM_001371596.2(MFSD8):c.534A>G (p.Leu178=) rs1740280377
NM_001371596.2(MFSD8):c.553+16A>G
NM_001371596.2(MFSD8):c.553+16A>T
NM_001371596.2(MFSD8):c.553+18_553+19del
NM_001371596.2(MFSD8):c.554-10T>C
NM_001371596.2(MFSD8):c.554-4T>A
NM_001371596.2(MFSD8):c.554-4_554-3del
NM_001371596.2(MFSD8):c.554-7T>C
NM_001371596.2(MFSD8):c.573A>T (p.Thr191=)
NM_001371596.2(MFSD8):c.579T>C (p.Leu193=)
NM_001371596.2(MFSD8):c.597A>G (p.Thr199=)
NM_001371596.2(MFSD8):c.62+18G>A
NM_001371596.2(MFSD8):c.62+18G>T
NM_001371596.2(MFSD8):c.62+8G>A rs2149008103
NM_001371596.2(MFSD8):c.624C>T (p.Asn208=) rs2148907532
NM_001371596.2(MFSD8):c.63-12_63-10del rs2148973081
NM_001371596.2(MFSD8):c.63-13del
NM_001371596.2(MFSD8):c.63-14T>A
NM_001371596.2(MFSD8):c.63-15C>T
NM_001371596.2(MFSD8):c.63-16T>C rs2148973104
NM_001371596.2(MFSD8):c.63-4del rs755011754
NM_001371596.2(MFSD8):c.63-8A>G rs751480930
NM_001371596.2(MFSD8):c.63-8A>T
NM_001371596.2(MFSD8):c.630T>C (p.Tyr210=) rs2148907497
NM_001371596.2(MFSD8):c.639A>C (p.Pro213=)
NM_001371596.2(MFSD8):c.639A>G (p.Pro213=)
NM_001371596.2(MFSD8):c.654C>A (p.Ala218=)
NM_001371596.2(MFSD8):c.654C>T (p.Ala218=) rs766992766
NM_001371596.2(MFSD8):c.658C>T (p.Leu220=) rs142063476
NM_001371596.2(MFSD8):c.660G>T (p.Leu220=)
NM_001371596.2(MFSD8):c.66A>G (p.Glu22=) rs145529594
NM_001371596.2(MFSD8):c.693A>T (p.Ile231=)
NM_001371596.2(MFSD8):c.694C>T (p.Leu232=) rs2148907140
NM_001371596.2(MFSD8):c.698+10_698+13del rs1739839175
NM_001371596.2(MFSD8):c.698+15A>G
NM_001371596.2(MFSD8):c.698+16T>C
NM_001371596.2(MFSD8):c.698+17G>C
NM_001371596.2(MFSD8):c.698+18A>G
NM_001371596.2(MFSD8):c.698+7A>G rs1437168458
NM_001371596.2(MFSD8):c.699-15G>A
NM_001371596.2(MFSD8):c.699-17G>A
NM_001371596.2(MFSD8):c.699-4T>C rs2148902864
NM_001371596.2(MFSD8):c.6C>G (p.Ala2=) rs1261295844
NM_001371596.2(MFSD8):c.708T>G (p.Arg236=) rs2148902785
NM_001371596.2(MFSD8):c.735A>G (p.Lys245=) rs2148902676
NM_001371596.2(MFSD8):c.750A>G (p.Glu250=) rs2148902616
NM_001371596.2(MFSD8):c.754+11C>T
NM_001371596.2(MFSD8):c.754+16T>C
NM_001371596.2(MFSD8):c.755-14C>A
NM_001371596.2(MFSD8):c.755-15C>A rs767947557
NM_001371596.2(MFSD8):c.755-15C>T
NM_001371596.2(MFSD8):c.755-18T>C
NM_001371596.2(MFSD8):c.755-4A>G rs766510873
NM_001371596.2(MFSD8):c.755-7C>T rs2148882528
NM_001371596.2(MFSD8):c.759T>C (p.Ser253=) rs2148882499
NM_001371596.2(MFSD8):c.765T>C (p.Asp255=)
NM_001371596.2(MFSD8):c.780C>G (p.Pro260=)
NM_001371596.2(MFSD8):c.792T>A (p.Ile264=) rs1738427095
NM_001371596.2(MFSD8):c.798G>A (p.Gln266=) rs2148882297
NM_001371596.2(MFSD8):c.807T>C (p.Val269=) rs1199001687
NM_001371596.2(MFSD8):c.84T>C (p.Thr28=)
NM_001371596.2(MFSD8):c.863+14C>T
NM_001371596.2(MFSD8):c.863+15A>C
NM_001371596.2(MFSD8):c.863+15A>G
NM_001371596.2(MFSD8):c.863+20C>A
NM_001371596.2(MFSD8):c.864-10T>C
NM_001371596.2(MFSD8):c.864-14T>C
NM_001371596.2(MFSD8):c.864-15T>A
NM_001371596.2(MFSD8):c.864-17_864-15del
NM_001371596.2(MFSD8):c.864-19A>T
NM_001371596.2(MFSD8):c.864-20A>T
NM_001371596.2(MFSD8):c.873T>A (p.Thr291=) rs1737992977
NM_001371596.2(MFSD8):c.882A>G (p.Thr294=)
NM_001371596.2(MFSD8):c.888T>C (p.Asp296=)
NM_001371596.2(MFSD8):c.894T>C (p.Tyr298=) rs118203977
NM_001371596.2(MFSD8):c.897C>G (p.Ala299=) rs747352043
NM_001371596.2(MFSD8):c.918G>A (p.Val306=) rs2148873600
NM_001371596.2(MFSD8):c.919T>C (p.Leu307=) rs1737983796
NM_001371596.2(MFSD8):c.930C>T (p.Gly310=)
NM_001371596.2(MFSD8):c.933A>T (p.Ile311=) rs2148873518
NM_001371596.2(MFSD8):c.939T>G (p.Leu313=)
NM_001371596.2(MFSD8):c.93T>C (p.His31=)
NM_001371596.2(MFSD8):c.945T>C (p.Ala315=) rs2148873447
NM_001371596.2(MFSD8):c.963T>A (p.Val321=)
NM_001371596.2(MFSD8):c.963T>C (p.Val321=) rs762491362
NM_001371596.2(MFSD8):c.96T>C (p.Tyr32=) rs1014332712
NM_001371596.2(MFSD8):c.993C>T (p.Ser331=) rs2148873268
NM_001371596.2(MFSD8):c.998+10G>A
NM_001371596.2(MFSD8):c.998+11T>G
NM_001371596.2(MFSD8):c.998+17T>G
NM_001371596.2(MFSD8):c.998+18G>T
NM_001371596.2(MFSD8):c.998+9A>G
NM_001371596.2(MFSD8):c.999-10T>C
NM_001371596.2(MFSD8):c.999-4A>T rs910246095
NM_001909.5(CTSD):c.1002C>T (p.Thr334=)
NM_001909.5(CTSD):c.1005G>A (p.Leu335=)
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.1053A>G (p.Pro351=)
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+10C>T 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.1072-11G>T
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.1072-6T>C
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.1086G>A (p.Gly362=)
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.1128G>T (p.Pro376=)
NM_001909.5(CTSD):c.1131A>C (p.Pro377=)
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.129G>C (p.Val43=)
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.168C>T (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>A (p.Gly65=)
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+20C>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>A (p.Leu9=)
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.315C>A (p.Val105=) rs1845849420
NM_001909.5(CTSD):c.318C>T (p.Pro106=) rs1845849397
NM_001909.5(CTSD):c.330C>T (p.Cys110=)
NM_001909.5(CTSD):c.337C>T (p.Leu113=)
NM_001909.5(CTSD):c.339G>A (p.Leu113=) rs2133664177
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.352+7C>G
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.462C>T (p.Asp154=)
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.471+9C>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.472-4G>C
NM_001909.5(CTSD):c.472-5T>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.513T>C (p.Gly171=)
NM_001909.5(CTSD):c.537T>C (p.Phe179=) rs11555045
NM_001909.5(CTSD):c.558A>C (p.Pro186=)
NM_001909.5(CTSD):c.567C>G (p.Thr189=)
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.600C>T (p.Gly200=)
NM_001909.5(CTSD):c.621C>T (p.Ser207=) rs367978332
NM_001909.5(CTSD):c.634C>T (p.Leu212=)
NM_001909.5(CTSD):c.636G>A (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.684C>T (p.Ile228=)
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+19C>G
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+17G>A
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.973-14G>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.984C>T (p.Pro328=)
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_002087.4(GRN):c.1020C>T (p.His340=)
NM_002087.4(GRN):c.1041G>A (p.Lys347=)
NM_002087.4(GRN):c.1060C>T (p.Leu354=)
NM_002087.4(GRN):c.1071A>T (p.Pro357=) rs765677842
NM_002087.4(GRN):c.108A>T (p.Gly36=)
NM_002087.4(GRN):c.1092C>T (p.Val364=)
NM_002087.4(GRN):c.1149T>A (p.Ser383=)
NM_002087.4(GRN):c.1152G>A (p.Gly384=)
NM_002087.4(GRN):c.1179+15del
NM_002087.4(GRN):c.1180-12C>T
NM_002087.4(GRN):c.1180-4C>A
NM_002087.4(GRN):c.1180-7C>G rs1288562767
NM_002087.4(GRN):c.1180-9A>C
NM_002087.4(GRN):c.1194G>A (p.Ser398=)
NM_002087.4(GRN):c.1227G>T (p.Thr409=)
NM_002087.4(GRN):c.1266C>T (p.Ile422=)
NM_002087.4(GRN):c.129T>C (p.Arg43=) rs2143325907
NM_002087.4(GRN):c.1326C>T (p.Ile442=) rs748758630
NM_002087.4(GRN):c.1344C>G (p.Thr448=)
NM_002087.4(GRN):c.1344C>T (p.Thr448=)
NM_002087.4(GRN):c.1374G>A (p.Pro458=)
NM_002087.4(GRN):c.1374G>C (p.Pro458=)
NM_002087.4(GRN):c.138+13C>G
NM_002087.4(GRN):c.139-10_139-7del
NM_002087.4(GRN):c.139-12C>G
NM_002087.4(GRN):c.139-13C>T
NM_002087.4(GRN):c.139-18T>C
NM_002087.4(GRN):c.139-20C>A
NM_002087.4(GRN):c.139-7T>G
NM_002087.4(GRN):c.1395C>T (p.Ala465=) rs2143346048
NM_002087.4(GRN):c.1413+20C>T
NM_002087.4(GRN):c.1413+8C>T
NM_002087.4(GRN):c.1414-5G>T
NM_002087.4(GRN):c.1414-6C>T
NM_002087.4(GRN):c.1414-9C>T
NM_002087.4(GRN):c.1434C>T (p.Arg478=)
NM_002087.4(GRN):c.1464C>T (p.Cys488=) rs1253276640
NM_002087.4(GRN):c.1467C>T (p.Asn489=)
NM_002087.4(GRN):c.1482C>T (p.Ser494=)
NM_002087.4(GRN):c.1497G>A (p.Val499=) rs375682522
NM_002087.4(GRN):c.1497G>C (p.Val499=) rs375682522
NM_002087.4(GRN):c.1497G>T (p.Val499=)
NM_002087.4(GRN):c.1518C>T (p.Thr506=) rs768852944
NM_002087.4(GRN):c.1527C>T (p.Ala509=)
NM_002087.4(GRN):c.1548G>T (p.Val516=) rs1044281109
NM_002087.4(GRN):c.1554C>T (p.Asp518=)
NM_002087.4(GRN):c.1560G>A (p.Glu520=)
NM_002087.4(GRN):c.1575C>T (p.His525=)
NM_002087.4(GRN):c.1578C>T (p.Phe526=) rs2143348471
NM_002087.4(GRN):c.1644+10A>T
NM_002087.4(GRN):c.1644+13C>A rs1219352976
NM_002087.4(GRN):c.1644+20C>T
NM_002087.4(GRN):c.1645-15C>G rs1292365225
NM_002087.4(GRN):c.1645-17C>T
NM_002087.4(GRN):c.1645-19C>T
NM_002087.4(GRN):c.1645-20G>A rs368901283
NM_002087.4(GRN):c.1645-20G>T
NM_002087.4(GRN):c.1665G>T (p.Arg555=)
NM_002087.4(GRN):c.1674C>T (p.Cys558=)
NM_002087.4(GRN):c.1683T>C (p.Ala561=)
NM_002087.4(GRN):c.1686C>T (p.Gly562=)
NM_002087.4(GRN):c.168T>C (p.His56=)
NM_002087.4(GRN):c.1698A>C (p.Ala566=)
NM_002087.4(GRN):c.1707T>C (p.Gly569=)
NM_002087.4(GRN):c.1719G>A (p.Leu573=) rs781110932
NM_002087.4(GRN):c.1731C>T (p.Ala577=)
NM_002087.4(GRN):c.1743C>T (p.Asp581=) rs1442769378
NM_002087.4(GRN):c.1752G>A (p.Leu584=)
NM_002087.4(GRN):c.1764C>T (p.Ala588=)
NM_002087.4(GRN):c.1770A>G (p.Arg590=)
NM_002087.4(GRN):c.186G>A (p.Gln62=)
NM_002087.4(GRN):c.18C>T (p.Ser6=)
NM_002087.4(GRN):c.198C>T (p.His66=)
NM_002087.4(GRN):c.207C>T (p.Ala69=)
NM_002087.4(GRN):c.237G>A (p.Gly79=)
NM_002087.4(GRN):c.240T>C (p.Thr80=) rs748557876
NM_002087.4(GRN):c.243C>T (p.Ser81=)
NM_002087.4(GRN):c.24G>A (p.Val8=)
NM_002087.4(GRN):c.258C>T (p.Phe86=)
NM_002087.4(GRN):c.264+13T>C
NM_002087.4(GRN):c.264+7G>C
NM_002087.4(GRN):c.265-13C>G
NM_002087.4(GRN):c.265-7T>C
NM_002087.4(GRN):c.285C>T (p.Gly95=)
NM_002087.4(GRN):c.291C>T (p.His97=)
NM_002087.4(GRN):c.301C>A (p.Arg101=)
NM_002087.4(GRN):c.321A>C (p.Ala107=) rs1459426505
NM_002087.4(GRN):c.324C>T (p.Asp108=)
NM_002087.4(GRN):c.339C>T (p.Phe113=)
NM_002087.4(GRN):c.349+11G>A
NM_002087.4(GRN):c.349+12G>C
NM_002087.4(GRN):c.349+16G>C rs901525268
NM_002087.4(GRN):c.349+18del
NM_002087.4(GRN):c.349+19T>C
NM_002087.4(GRN):c.350-13A>G
NM_002087.4(GRN):c.350-9T>C
NM_002087.4(GRN):c.351T>G (p.Gly117=) rs2143331256
NM_002087.4(GRN):c.378C>T (p.Cys126=)
NM_002087.4(GRN):c.393C>T (p.Phe131=) rs149180605
NM_002087.4(GRN):c.414G>A (p.Thr138=) rs543344476
NM_002087.4(GRN):c.423T>G (p.Val141=)
NM_002087.4(GRN):c.462+13G>A
NM_002087.4(GRN):c.462+16A>G
NM_002087.4(GRN):c.462+20G>A
NM_002087.4(GRN):c.463-11T>C
NM_002087.4(GRN):c.463-17G>C
NM_002087.4(GRN):c.463-5C>G rs1475553309
NM_002087.4(GRN):c.474T>C (p.Cys158=)
NM_002087.4(GRN):c.480C>T (p.Asp160=)
NM_002087.4(GRN):c.519G>C (p.Leu173=)
NM_002087.4(GRN):c.540A>T (p.Thr180=)
NM_002087.4(GRN):c.549C>T (p.Gly183=) rs2143333571
NM_002087.4(GRN):c.558C>T (p.Pro186=)
NM_002087.4(GRN):c.573C>T (p.Leu191=)
NM_002087.4(GRN):c.582G>A (p.Gln194=)
NM_002087.4(GRN):c.599-10C>T
NM_002087.4(GRN):c.599-11T>A
NM_002087.4(GRN):c.599-18C>T
NM_002087.4(GRN):c.599-8T>C
NM_002087.4(GRN):c.636G>A (p.Arg212=)
NM_002087.4(GRN):c.657T>A (p.Ser219=)
NM_002087.4(GRN):c.657T>C (p.Ser219=)
NM_002087.4(GRN):c.660C>G (p.Thr220=) rs1416699369
NM_002087.4(GRN):c.708+15G>A rs765540363
NM_002087.4(GRN):c.708+20C>T
NM_002087.4(GRN):c.709-5C>T
NM_002087.4(GRN):c.741C>T (p.Cys247=)
NM_002087.4(GRN):c.744C>G (p.Pro248=)
NM_002087.4(GRN):c.744C>T (p.Pro248=)
NM_002087.4(GRN):c.753T>C (p.Thr251=)
NM_002087.4(GRN):c.78C>T (p.Cys26=)
NM_002087.4(GRN):c.795C>T (p.Asn265=)
NM_002087.4(GRN):c.816T>C (p.Thr272=)
NM_002087.4(GRN):c.828G>A (p.Ala276=)
NM_002087.4(GRN):c.836-14T>G
NM_002087.4(GRN):c.836-19CT[2]
NM_002087.4(GRN):c.836-5C>G
NM_002087.4(GRN):c.836-7C>T rs1598364646
NM_002087.4(GRN):c.873A>G (p.Pro291=)
NM_002087.4(GRN):c.873A>T (p.Pro291=) rs2143339424
NM_002087.4(GRN):c.879C>G (p.Gly293=) rs764968816
NM_002087.4(GRN):c.87C>A (p.Ala29=)
NM_002087.4(GRN):c.882T>C (p.Tyr294=) rs794729670
NM_002087.4(GRN):c.895C>T (p.Leu299=)
NM_002087.4(GRN):c.933+10G>A
NM_002087.4(GRN):c.933+16G>A
NM_002087.4(GRN):c.933+7A>T rs1598364800
NM_002087.4(GRN):c.934-12dup
NM_002087.4(GRN):c.934-8del rs1567887447
NM_002087.4(GRN):c.934-9C>T
NM_002087.4(GRN):c.954C>T (p.His318=)
NM_002087.4(GRN):c.96G>C (p.Leu32=)
NM_003793.4(CTSF):c.1140C>G (p.Ser380=) rs143674429
NM_003793.4(CTSF):c.1166-7A>G
NM_003793.4(CTSF):c.1231-13_1231-11del
NM_003793.4(CTSF):c.1296G>A (p.Ala432=)
NM_003793.4(CTSF):c.1314C>T (p.Tyr438=)
NM_003793.4(CTSF):c.1321+9C>T
NM_003793.4(CTSF):c.1322-14G>A
NM_003793.4(CTSF):c.1380+13G>A
NM_003793.4(CTSF):c.1380+19del
NM_003793.4(CTSF):c.15G>T (p.Leu5=)
NM_003793.4(CTSF):c.160C>A (p.Arg54=) rs776443007
NM_003793.4(CTSF):c.171G>C (p.Gly57=)
NM_003793.4(CTSF):c.186G>A (p.Leu62=)
NM_003793.4(CTSF):c.200_205dup (p.Gly67_Arg68dup) rs772656687
NM_003793.4(CTSF):c.258G>A (p.Glu86=)
NM_003793.4(CTSF):c.261A>G (p.Pro87=)
NM_003793.4(CTSF):c.342C>G (p.Leu114=)
NM_003793.4(CTSF):c.42C>G (p.Leu14=)
NM_003793.4(CTSF):c.450T>C (p.Ser150=)
NM_003793.4(CTSF):c.531+15G>C
NM_003793.4(CTSF):c.614G>T (p.Arg205Leu) rs142782021
NM_003793.4(CTSF):c.722-4G>A
NM_003793.4(CTSF):c.867+8C>T
NM_003793.4(CTSF):c.933C>T (p.Asn311=)
NM_003793.4(CTSF):c.972G>A (p.Leu324=)
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.1005A>G (p.Lys335=)
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.1068T>C (p.Ser356=)
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>A (p.Arg51=)
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.174-7T>C
NM_006493.4(CLN5):c.174-8_174-6del
NM_006493.4(CLN5):c.174-9C>A
NM_006493.4(CLN5):c.174-9_174-6del
NM_006493.4(CLN5):c.174-9del
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.249C>T (p.Ile83=)
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.340-14C>T
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.468T>A (p.Pro156=)
NM_006493.4(CLN5):c.468T>C (p.Pro156=)
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.48C>T (p.Gly16=) rs1448304779
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.540A>G (p.Thr180=)
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.966T>C (p.Tyr322=)
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.198+8T>C
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.237C>A (p.Pro79=)
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+18C>T
NM_017882.3(CLN6):c.297+20A>C
NM_017882.3(CLN6):c.297+9C>T rs1258135795
NM_017882.3(CLN6):c.298-11C>G
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.322C>T (p.Leu108=)
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.411G>C (p.Leu137=)
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.438G>A (p.Leu146=)
NM_017882.3(CLN6):c.438G>C (p.Leu146=)
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>G rs2141138813
NM_017882.3(CLN6):c.487-7C>T rs2141138813
NM_017882.3(CLN6):c.487-9C>G
NM_017882.3(CLN6):c.487-9C>T
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.513T>C (p.Tyr171=)
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.542+20G>C
NM_017882.3(CLN6):c.543-10C>A rs767297743
NM_017882.3(CLN6):c.543-13C>G
NM_017882.3(CLN6):c.543-14C>A
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.603A>G (p.Lys201=)
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.665+8G>A
NM_017882.3(CLN6):c.666-10G>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.699C>T (p.Leu233=)
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.78G>A (p.Gln26=)
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+16G>C
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.196C>T (p.Leu66=)
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.27A>G (p.Thr9=) rs750274455
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.435G>A (p.Gly145=)
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_022089.4(ATP13A2):c.10+13T>C
NM_022089.4(ATP13A2):c.10+14C>T
NM_022089.4(ATP13A2):c.1023T>C (p.Asn341=)
NM_022089.4(ATP13A2):c.102C>T (p.Ser34=)
NM_022089.4(ATP13A2):c.1039+11A>G rs2100994243
NM_022089.4(ATP13A2):c.1039+15C>G
NM_022089.4(ATP13A2):c.1040-12G>A
NM_022089.4(ATP13A2):c.1040-13C>T
NM_022089.4(ATP13A2):c.1040-18C>T
NM_022089.4(ATP13A2):c.1041A>T (p.Gly347=)
NM_022089.4(ATP13A2):c.106-20C>T
NM_022089.4(ATP13A2):c.1074G>A (p.Pro358=)
NM_022089.4(ATP13A2):c.1095T>C (p.Cys365=) rs2100916560
NM_022089.4(ATP13A2):c.1110G>T (p.Arg370=)
NM_022089.4(ATP13A2):c.1125C>T (p.Phe375=)
NM_022089.4(ATP13A2):c.1137C>G (p.Leu379=) rs1026641789
NM_022089.4(ATP13A2):c.1163G>A (p.Gly388Glu) rs769588580
NM_022089.4(ATP13A2):c.1188C>T (p.Thr396=)
NM_022089.4(ATP13A2):c.1195+12G>C
NM_022089.4(ATP13A2):c.1195+19G>A
NM_022089.4(ATP13A2):c.1195+5G>A
NM_022089.4(ATP13A2):c.1195+7G>A rs1407939803
NM_022089.4(ATP13A2):c.1196-17C>T
NM_022089.4(ATP13A2):c.1215G>A (p.Gly405=)
NM_022089.4(ATP13A2):c.1215G>T (p.Gly405=) rs763507619
NM_022089.4(ATP13A2):c.1218C>T (p.Gly406=) rs796629683
NM_022089.4(ATP13A2):c.1281G>A (p.Lys427=)
NM_022089.4(ATP13A2):c.1307-11T>C
NM_022089.4(ATP13A2):c.1307-20G>T rs1161484444
NM_022089.4(ATP13A2):c.1307-8C>T
NM_022089.4(ATP13A2):c.1314C>T (p.Leu438=) rs764435162
NM_022089.4(ATP13A2):c.1317C>T (p.Gly439=) rs775625778
NM_022089.4(ATP13A2):c.1353+16G>C
NM_022089.4(ATP13A2):c.1353+17G>T
NM_022089.4(ATP13A2):c.1353+18G>A
NM_022089.4(ATP13A2):c.1354-11C>T
NM_022089.4(ATP13A2):c.1354-12G>A
NM_022089.4(ATP13A2):c.1354-17A>C
NM_022089.4(ATP13A2):c.1380G>C (p.Arg460=)
NM_022089.4(ATP13A2):c.1386C>T (p.Leu462=)
NM_022089.4(ATP13A2):c.1428C>T (p.Ala476=)
NM_022089.4(ATP13A2):c.1443G>A (p.Thr481=)
NM_022089.4(ATP13A2):c.1491C>T (p.His497=)
NM_022089.4(ATP13A2):c.1518G>A (p.Lys506=)
NM_022089.4(ATP13A2):c.1542+11A>G rs1286184234
NM_022089.4(ATP13A2):c.1542+11A>T
NM_022089.4(ATP13A2):c.1542+13G>A rs2100878532
NM_022089.4(ATP13A2):c.1543-11G>A
NM_022089.4(ATP13A2):c.1543-14C>T
NM_022089.4(ATP13A2):c.1543-17C>A
NM_022089.4(ATP13A2):c.1543-17C>T
NM_022089.4(ATP13A2):c.1543-18C>T
NM_022089.4(ATP13A2):c.1543-7C>T
NM_022089.4(ATP13A2):c.1609C>T (p.Leu537=)
NM_022089.4(ATP13A2):c.1662A>G (p.Ala554=)
NM_022089.4(ATP13A2):c.1662A>T (p.Ala554=) rs1269279941
NM_022089.4(ATP13A2):c.1665G>A (p.Leu555=) rs2100816612
NM_022089.4(ATP13A2):c.1668C>T (p.Ala556=)
NM_022089.4(ATP13A2):c.1701C>T (p.Thr567=)
NM_022089.4(ATP13A2):c.1713C>T (p.Asp571=)
NM_022089.4(ATP13A2):c.1749+12A>G
NM_022089.4(ATP13A2):c.1749+8G>T
NM_022089.4(ATP13A2):c.1750-11C>A
NM_022089.4(ATP13A2):c.1750-14T>C
NM_022089.4(ATP13A2):c.1750-20C>A
NM_022089.4(ATP13A2):c.1750-20C>G rs1305686148
NM_022089.4(ATP13A2):c.1750-8C>T
NM_022089.4(ATP13A2):c.1845+14G>A
NM_022089.4(ATP13A2):c.1845+17C>T rs912845832
NM_022089.4(ATP13A2):c.1887C>T (p.Pro629=)
NM_022089.4(ATP13A2):c.1893T>G (p.Ser631=)
NM_022089.4(ATP13A2):c.1947C>T (p.Pro649=)
NM_022089.4(ATP13A2):c.1956C>T (p.Tyr652=)
NM_022089.4(ATP13A2):c.1971G>A (p.Pro657=)
NM_022089.4(ATP13A2):c.1989C>G (p.Leu663=)
NM_022089.4(ATP13A2):c.2005+10_2005+13dup
NM_022089.4(ATP13A2):c.2005+11A>G
NM_022089.4(ATP13A2):c.2005+13G>A
NM_022089.4(ATP13A2):c.2006-20C>T
NM_022089.4(ATP13A2):c.2006-4G>T
NM_022089.4(ATP13A2):c.2006-7dup
NM_022089.4(ATP13A2):c.2006-9C>A
NM_022089.4(ATP13A2):c.2019C>T (p.Phe673=)
NM_022089.4(ATP13A2):c.2064G>C (p.Val688=)
NM_022089.4(ATP13A2):c.2082A>G (p.Pro694=) rs1303061130
NM_022089.4(ATP13A2):c.2094G>A (p.Val698=)
NM_022089.4(ATP13A2):c.2112C>T (p.Ala704=)
NM_022089.4(ATP13A2):c.2126+11C>A
NM_022089.4(ATP13A2):c.2126+13C>T
NM_022089.4(ATP13A2):c.2126+19C>T
NM_022089.4(ATP13A2):c.2126+20C>T rs2100772296
NM_022089.4(ATP13A2):c.2127-13G>A
NM_022089.4(ATP13A2):c.2136G>A (p.Val712=) rs1232417254
NM_022089.4(ATP13A2):c.2190G>A (p.Pro730=)
NM_022089.4(ATP13A2):c.2202A>G (p.Pro734=)
NM_022089.4(ATP13A2):c.2235C>T (p.Arg745=)
NM_022089.4(ATP13A2):c.2238C>T (p.Ala746=)
NM_022089.4(ATP13A2):c.2251+11A>C
NM_022089.4(ATP13A2):c.2251+19G>A
NM_022089.4(ATP13A2):c.2252-12C>T
NM_022089.4(ATP13A2):c.2252-18T>C rs2076885723
NM_022089.4(ATP13A2):c.2252-7C>A
NM_022089.4(ATP13A2):c.2262G>A (p.Leu754=)
NM_022089.4(ATP13A2):c.2310G>A (p.Gln770=)
NM_022089.4(ATP13A2):c.2325C>T (p.Ile775=)
NM_022089.4(ATP13A2):c.2379G>A (p.Pro793=)
NM_022089.4(ATP13A2):c.2400G>C (p.Val800=)
NM_022089.4(ATP13A2):c.2400G>T (p.Val800=)
NM_022089.4(ATP13A2):c.2412+12C>G
NM_022089.4(ATP13A2):c.2424G>A (p.Gln808=)
NM_022089.4(ATP13A2):c.2454C>T (p.Pro818=) rs2100725900
NM_022089.4(ATP13A2):c.2475C>G (p.Leu825=)
NM_022089.4(ATP13A2):c.2481G>T (p.Gly827=) rs761620417
NM_022089.4(ATP13A2):c.24C>A (p.Leu8=) rs1460426486
NM_022089.4(ATP13A2):c.2529+10C>T
NM_022089.4(ATP13A2):c.2529+11C>T
NM_022089.4(ATP13A2):c.2529+13C>T
NM_022089.4(ATP13A2):c.2529+7C>T rs2100723755
NM_022089.4(ATP13A2):c.2530-14C>A rs759142662
NM_022089.4(ATP13A2):c.2538C>G (p.Val846=) rs1365858933
NM_022089.4(ATP13A2):c.2544C>T (p.Gly848=) rs769033175
NM_022089.4(ATP13A2):c.2556C>T (p.Ala852=) rs55889979
NM_022089.4(ATP13A2):c.2580A>G (p.Thr860=) rs1295653375
NM_022089.4(ATP13A2):c.2609+11G>A
NM_022089.4(ATP13A2):c.2609+19G>T
NM_022089.4(ATP13A2):c.2610-8C>T
NM_022089.4(ATP13A2):c.2652G>A (p.Gly884=)
NM_022089.4(ATP13A2):c.2652G>T (p.Gly884=)
NM_022089.4(ATP13A2):c.2664G>T (p.Ala888=)
NM_022089.4(ATP13A2):c.2682G>A (p.Ser894=) rs767921922
NM_022089.4(ATP13A2):c.270C>T (p.Ile90=) rs1348572920
NM_022089.4(ATP13A2):c.2742G>A (p.Glu914=) rs146234171
NM_022089.4(ATP13A2):c.2762+18C>T
NM_022089.4(ATP13A2):c.2762+19G>A
NM_022089.4(ATP13A2):c.2762+19G>C rs779656439
NM_022089.4(ATP13A2):c.2762+9G>A rs1570769698
NM_022089.4(ATP13A2):c.2763-8C>A
NM_022089.4(ATP13A2):c.2799C>T (p.Val933=)
NM_022089.4(ATP13A2):c.2805G>A (p.Lys935=)
NM_022089.4(ATP13A2):c.2829C>G (p.Thr943=)
NM_022089.4(ATP13A2):c.2841C>T (p.Ser947=)
NM_022089.4(ATP13A2):c.2860-7G>A rs2076770965
NM_022089.4(ATP13A2):c.2862C>A (p.Ile954=)
NM_022089.4(ATP13A2):c.2871C>T (p.Asn957=)
NM_022089.4(ATP13A2):c.288+12G>T rs749064381
NM_022089.4(ATP13A2):c.288+17G>T
NM_022089.4(ATP13A2):c.289-12T>C
NM_022089.4(ATP13A2):c.289-13C>T
NM_022089.4(ATP13A2):c.2898C>T (p.Ile966=)
NM_022089.4(ATP13A2):c.2907C>G (p.Val969=)
NM_022089.4(ATP13A2):c.2958C>G (p.Val986=)
NM_022089.4(ATP13A2):c.2967G>A (p.Arg989=)
NM_022089.4(ATP13A2):c.2976A>C (p.Pro992=)
NM_022089.4(ATP13A2):c.2979G>A (p.Pro993=)
NM_022089.4(ATP13A2):c.2991C>T (p.Leu997=)
NM_022089.4(ATP13A2):c.3013C>T (p.Leu1005=)
NM_022089.4(ATP13A2):c.3039C>T (p.Thr1013=)
NM_022089.4(ATP13A2):c.3042C>T (p.Gly1014=) rs1415173041
NM_022089.4(ATP13A2):c.3083+18dup
NM_022089.4(ATP13A2):c.3084-10G>A rs368908107
NM_022089.4(ATP13A2):c.3084-20C>T rs773787370
NM_022089.4(ATP13A2):c.3084-7C>T
NM_022089.4(ATP13A2):c.3126G>C (p.Leu1042=)
NM_022089.4(ATP13A2):c.3135C>T (p.Tyr1045=)
NM_022089.4(ATP13A2):c.3144C>T (p.Thr1048=) rs56126202
NM_022089.4(ATP13A2):c.3183G>A (p.Leu1061=)
NM_022089.4(ATP13A2):c.3207G>T (p.Ala1069=)
NM_022089.4(ATP13A2):c.3222G>A (p.Pro1074=) rs372993383
NM_022089.4(ATP13A2):c.3235+11G>C
NM_022089.4(ATP13A2):c.3235+16_3235+21del
NM_022089.4(ATP13A2):c.3235+19G>A
NM_022089.4(ATP13A2):c.3236-13C>G rs2076736733
NM_022089.4(ATP13A2):c.3236-19_3236-16del
NM_022089.4(ATP13A2):c.3270C>T (p.Ser1090=)
NM_022089.4(ATP13A2):c.3273C>G (p.Val1091=)
NM_022089.4(ATP13A2):c.327T>C (p.Thr109=)
NM_022089.4(ATP13A2):c.3321G>A (p.Ala1107=) rs751916254
NM_022089.4(ATP13A2):c.3361C>T (p.Leu1121=)
NM_022089.4(ATP13A2):c.339C>T (p.Gly113=)
NM_022089.4(ATP13A2):c.3400C>T (p.Leu1134=)
NM_022089.4(ATP13A2):c.3405+19C>T
NM_022089.4(ATP13A2):c.3405+7C>T rs758763354
NM_022089.4(ATP13A2):c.3406-13del
NM_022089.4(ATP13A2):c.3406-8del
NM_022089.4(ATP13A2):c.3408C>T (p.Ser1136=)
NM_022089.4(ATP13A2):c.3411G>C (p.Val1137=) rs2100629081
NM_022089.4(ATP13A2):c.3414A>G (p.Leu1138=)
NM_022089.4(ATP13A2):c.3423C>T (p.Cys1141=)
NM_022089.4(ATP13A2):c.3426C>A (p.Leu1142=)
NM_022089.4(ATP13A2):c.3426C>G (p.Leu1142=)
NM_022089.4(ATP13A2):c.3435C>T (p.Cys1145=)
NM_022089.4(ATP13A2):c.3457C>A (p.Arg1153=)
NM_022089.4(ATP13A2):c.3462C>T (p.Ala1154=) rs761171771
NM_022089.4(ATP13A2):c.347+12_347+13del
NM_022089.4(ATP13A2):c.348-16T>C rs2077491501
NM_022089.4(ATP13A2):c.348-17C>T
NM_022089.4(ATP13A2):c.3490C>A (p.Arg1164=) rs373003359
NM_022089.4(ATP13A2):c.349C>T (p.Leu117=)
NM_022089.4(ATP13A2):c.3501C>G (p.Ala1167=)
NM_022089.4(ATP13A2):c.3525C>T (p.Pro1175=)
NM_022089.4(ATP13A2):c.3543G>A (p.Ter1181=)
NM_022089.4(ATP13A2):c.408G>A (p.Ala136=)
NM_022089.4(ATP13A2):c.477+12A>G
NM_022089.4(ATP13A2):c.477+15A>C
NM_022089.4(ATP13A2):c.477+18C>A
NM_022089.4(ATP13A2):c.478-13C>T
NM_022089.4(ATP13A2):c.478-15C>T
NM_022089.4(ATP13A2):c.478-7C>T
NM_022089.4(ATP13A2):c.483G>A (p.Arg161=)
NM_022089.4(ATP13A2):c.557+7G>A
NM_022089.4(ATP13A2):c.558-11C>T rs912183101
NM_022089.4(ATP13A2):c.558-15C>T
NM_022089.4(ATP13A2):c.558-6C>T
NM_022089.4(ATP13A2):c.570T>C (p.His190=)
NM_022089.4(ATP13A2):c.635+10G>C
NM_022089.4(ATP13A2):c.635+20G>A
NM_022089.4(ATP13A2):c.635+8C>T
NM_022089.4(ATP13A2):c.636-12C>A
NM_022089.4(ATP13A2):c.636-12C>T
NM_022089.4(ATP13A2):c.636-19G>A rs1001030076
NM_022089.4(ATP13A2):c.642C>T (p.Ala214=) rs2101043010
NM_022089.4(ATP13A2):c.657C>T (p.Asn219=)
NM_022089.4(ATP13A2):c.660G>A (p.Val220=)
NM_022089.4(ATP13A2):c.66G>A (p.Gly22=)
NM_022089.4(ATP13A2):c.702C>T (p.Asp234=)
NM_022089.4(ATP13A2):c.705+11C>T
NM_022089.4(ATP13A2):c.706-13G>A rs374468183
NM_022089.4(ATP13A2):c.706-13G>T rs374468183
NM_022089.4(ATP13A2):c.706-16C>T rs2101010699
NM_022089.4(ATP13A2):c.706-17T>A
NM_022089.4(ATP13A2):c.706-17T>C
NM_022089.4(ATP13A2):c.744C>T (p.Ile248=)
NM_022089.4(ATP13A2):c.747G>A (p.Ala249=)
NM_022089.4(ATP13A2):c.765C>T (p.His255=)
NM_022089.4(ATP13A2):c.792C>T (p.Phe264=)
NM_022089.4(ATP13A2):c.825G>C (p.Leu275=)
NM_022089.4(ATP13A2):c.841-15G>T
NM_022089.4(ATP13A2):c.841-18C>T
NM_022089.4(ATP13A2):c.841-20C>T
NM_022089.4(ATP13A2):c.853C>T (p.Leu285=)
NM_022089.4(ATP13A2):c.888C>T (p.Cys296=)
NM_022089.4(ATP13A2):c.894C>T (p.Cys298=)
NM_022089.4(ATP13A2):c.900A>C (p.Pro300=)
NM_022089.4(ATP13A2):c.908-13T>G
NM_022089.4(ATP13A2):c.908-14C>T rs536927284
NM_022089.4(ATP13A2):c.908-18T>A
NM_022089.4(ATP13A2):c.908-19C>T
NM_022089.4(ATP13A2):c.908-20C>T rs2100997892
NM_022089.4(ATP13A2):c.908-8G>A
NM_022089.4(ATP13A2):c.934C>T (p.Leu312=)
NM_022089.4(ATP13A2):c.942C>G (p.Pro314=)
NM_022089.4(ATP13A2):c.942C>T (p.Pro314=) rs551559306
NM_022089.4(ATP13A2):c.966G>A (p.Gln322=)
NM_022089.4(ATP13A2):c.997C>T (p.Leu333=) rs1570854476
NM_025219.3(DNAJC5):c.107+15G>A
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+14G>C
NM_025219.3(DNAJC5):c.321+38_321+63del rs2053644346
NM_025219.3(DNAJC5):c.321+38_321+63dup
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.322-9T>A rs2146308196
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.399C>T (p.Cys133=)
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>A (p.Ala186=)
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.585C>T (p.Asp195=)
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=)
NM_153033.4:c.315-?_*3997+?dup
NM_153033.5(KCTD7):c.102G>A (p.Thr34=)
NM_153033.5(KCTD7):c.111G>A (p.Gln37=) rs1786383344
NM_153033.5(KCTD7):c.117G>A (p.Gly39=) rs2116755633
NM_153033.5(KCTD7):c.123G>T (p.Ala41=) rs2116755653
NM_153033.5(KCTD7):c.129C>T (p.Pro43=)
NM_153033.5(KCTD7):c.12C>G (p.Val4=)
NM_153033.5(KCTD7):c.144+15G>A
NM_153033.5(KCTD7):c.144+18G>A
NM_153033.5(KCTD7):c.144+21_144+27dup
NM_153033.5(KCTD7):c.144+7G>A
NM_153033.5(KCTD7):c.144+8G>A
NM_153033.5(KCTD7):c.144+8GGCGGGC[3]
NM_153033.5(KCTD7):c.144+9del rs1320825927
NM_153033.5(KCTD7):c.145-17T>A rs2116763618
NM_153033.5(KCTD7):c.145-19C>G
NM_153033.5(KCTD7):c.145-19C>T
NM_153033.5(KCTD7):c.145-5del
NM_153033.5(KCTD7):c.145-6T>C
NM_153033.5(KCTD7):c.162C>A (p.Pro54=)
NM_153033.5(KCTD7):c.165T>C (p.Leu55=)
NM_153033.5(KCTD7):c.177G>T (p.Gly59=)
NM_153033.5(KCTD7):c.204A>C (p.Thr68=) rs777859099
NM_153033.5(KCTD7):c.205C>T (p.Leu69=)
NM_153033.5(KCTD7):c.252G>A (p.Arg84=)
NM_153033.5(KCTD7):c.270C>T (p.Asp90=) rs746002015
NM_153033.5(KCTD7):c.279C>T (p.Gly93=)
NM_153033.5(KCTD7):c.285C>T (p.Tyr95=) rs1584395905
NM_153033.5(KCTD7):c.291C>T (p.Ile97=) rs769023482
NM_153033.5(KCTD7):c.295C>A (p.Arg99=)
NM_153033.5(KCTD7):c.314+13C>T rs1786503027
NM_153033.5(KCTD7):c.314+18C>G
NM_153033.5(KCTD7):c.314+19A>C
NM_153033.5(KCTD7):c.314+20A>G
NM_153033.5(KCTD7):c.314+9C>T
NM_153033.5(KCTD7):c.315-15T>C
NM_153033.5(KCTD7):c.315-16T>C
NM_153033.5(KCTD7):c.315-17C>T
NM_153033.5(KCTD7):c.315-32_315-17del rs758037249
NM_153033.5(KCTD7):c.315-4T>A
NM_153033.5(KCTD7):c.315-4T>C rs932417352
NM_153033.5(KCTD7):c.315-5C>G
NM_153033.5(KCTD7):c.315-8C>G
NM_153033.5(KCTD7):c.315-9C>T rs746772828
NM_153033.5(KCTD7):c.321G>C (p.Val107=)
NM_153033.5(KCTD7):c.330C>T (p.Phe110=)
NM_153033.5(KCTD7):c.339A>G (p.Ser113=)
NM_153033.5(KCTD7):c.339A>T (p.Ser113=)
NM_153033.5(KCTD7):c.345C>T (p.Asp115=)
NM_153033.5(KCTD7):c.351A>G (p.Pro117=)
NM_153033.5(KCTD7):c.363T>C (p.Arg121=)
NM_153033.5(KCTD7):c.393C>T (p.Tyr131=) rs2116773941
NM_153033.5(KCTD7):c.402C>A (p.Ile134=)
NM_153033.5(KCTD7):c.405G>C (p.Gly135=) rs555039386
NM_153033.5(KCTD7):c.414G>A (p.Leu138=) rs1786634017
NM_153033.5(KCTD7):c.417G>A (p.Glu139=) rs1554300872
NM_153033.5(KCTD7):c.465G>A (p.Ala155=) rs773209661
NM_153033.5(KCTD7):c.489C>T (p.Tyr163=) rs1057521582
NM_153033.5(KCTD7):c.493+16C>T
NM_153033.5(KCTD7):c.494-19G>A
NM_153033.5(KCTD7):c.494-5T>C rs2116774978
NM_153033.5(KCTD7):c.494-7C>T rs768234025
NM_153033.5(KCTD7):c.51C>T (p.Ala17=) rs1584392789
NM_153033.5(KCTD7):c.528G>C (p.Leu176=)
NM_153033.5(KCTD7):c.549C>G (p.Ala183=) rs1786648622
NM_153033.5(KCTD7):c.564C>G (p.Leu188=)
NM_153033.5(KCTD7):c.594C>G (p.Pro198=) rs749192199
NM_153033.5(KCTD7):c.60C>T (p.Ser20=)
NM_153033.5(KCTD7):c.612T>C (p.Cys204=)
NM_153033.5(KCTD7):c.618C>G (p.Leu206=)
NM_153033.5(KCTD7):c.639G>A (p.Glu213=)
NM_153033.5(KCTD7):c.63T>C (p.Ser21=) rs756855275
NM_153033.5(KCTD7):c.642G>C (p.Arg214=)
NM_153033.5(KCTD7):c.699G>A (p.Gly233=)
NM_153033.5(KCTD7):c.69C>G (p.Ala23=) rs1584392832
NM_153033.5(KCTD7):c.714G>A (p.Val238=)
NM_153033.5(KCTD7):c.730C>T (p.Leu244=) rs1241868814
NM_153033.5(KCTD7):c.735G>T (p.Leu245=)
NM_153033.5(KCTD7):c.750G>C (p.Thr250=) rs374256335
NM_153033.5(KCTD7):c.759G>A (p.Ser253=) rs146540578
NM_153033.5(KCTD7):c.759G>T (p.Ser253=)
NM_153033.5(KCTD7):c.786G>A (p.Gln262=) rs1584399843
NM_153033.5(KCTD7):c.810C>T (p.His270=) rs2116775769
NM_153033.5(KCTD7):c.82C>T (p.Leu28=) rs2116755532
NM_153033.5(KCTD7):c.834G>A (p.Lys278=) rs746774522
NM_153033.5(KCTD7):c.99G>A (p.Pro33=)
NM_153033.5(KCTD7):c.9A>G (p.Val3=)

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