ClinVar Miner

List of variants reported as uncertain significance for neuronal ceroid lipofuscinosis

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3209
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.*42T>G rs754655363 0.14249
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_000310.4(PPT1):c.*3C>A rs150454815 0.00889
NM_153033.5(KCTD7):c.*3238G>A rs144828027 0.00504
NM_000391.4(TPP1):c.*1540T>C rs374146578 0.00387
NM_000310.4(PPT1):c.*708A>C rs368715899 0.00355
NM_001042432.2(CLN3):c.-129G>C rs141305257 0.00315
NM_000310.4(PPT1):c.*679C>A rs560639610 0.00301
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024 0.00299
NM_006493.4(CLN5):c.*721G>A rs145949751 0.00286
NM_001909.5(CTSD):c.912G>A (p.Pro304=) rs140238987 0.00281
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036 0.00257
NM_001909.5(CTSD):c.*509C>T rs780680894 0.00255
NM_022089.4(ATP13A2):c.3342C>T (p.Thr1114=) rs115985012 0.00228
NM_022089.4(ATP13A2):c.*130C>T rs189334432 0.00217
NM_000391.4(TPP1):c.*1250T>A rs193029892 0.00215
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254 0.00209
NM_001909.5(CTSD):c.639C>G (p.Pro213=) rs146073498 0.00197
NM_000391.4(TPP1):c.*1570C>T rs369352772 0.00175
NM_018941.4(CLN8):c.11C>T (p.Ala4Val) rs147181589 0.00175
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698 0.00169
NM_001909.5(CTSD):c.*210C>G rs528911846 0.00156
NM_000310.4(PPT1):c.*484C>T rs570163737 0.00155
NM_001371596.2(MFSD8):c.*2613T>C rs539367239 0.00150
NM_025219.3(DNAJC5):c.*158A>T rs41278210 0.00148
NM_153033.5(KCTD7):c.384G>A (p.Glu128=) rs145238250 0.00148
NM_153033.5(KCTD7):c.*557A>T rs560766108 0.00147
NM_017882.3(CLN6):c.339G>A (p.Thr113=) rs146135801 0.00141
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576 0.00133
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=) rs144557304 0.00127
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) rs547125345 0.00120
NM_006493.4(CLN5):c.*975G>A rs539756080 0.00118
NM_001909.5(CTSD):c.*694G>A rs751538234 0.00116
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787 0.00116
NM_025219.3(DNAJC5):c.*1220G>A rs73136582 0.00115
NM_002087.4(GRN):c.970G>A (p.Ala324Thr) rs63750541 0.00112
NM_003793.4(CTSF):c.683C>G (p.Thr228Arg) rs148611356 0.00105
NM_153033.5(KCTD7):c.*2009A>G rs184129807 0.00105
NM_006493.4(CLN5):c.-146T>C rs201615354 0.00104
NM_001042432.2(CLN3):c.768C>T (p.Thr256=) rs145967477 0.00103
NM_025219.3(DNAJC5):c.-109A>G rs750302498 0.00102
NM_017882.3(CLN6):c.*1103G>A rs147362516 0.00101
NM_001042432.1(CLN3):c.-264C>G rs187163584 0.00096
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_001371596.2(MFSD8):c.*2021C>T rs780466040 0.00091
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe) rs55708915 0.00091
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=) rs148391179 0.00091
NM_001371596.2(MFSD8):c.*2006A>C rs181240021 0.00090
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly) rs148064565 0.00088
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_001371596.2(MFSD8):c.*1147G>A rs189901544 0.00082
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val) rs149372969 0.00081
NM_025219.3(DNAJC5):c.*736G>A rs552739074 0.00078
NM_022089.4(ATP13A2):c.106-8G>A rs200587951 0.00075
NM_001042432.2(CLN3):c.238A>T (p.Thr80Ser) rs150348015 0.00074
NM_001371596.2(MFSD8):c.1287C>T (p.Gly429=) rs138072045 0.00073
NM_018941.4(CLN8):c.513C>G (p.Pro171=) rs376910635 0.00073
NM_000310.4(PPT1):c.*914A>G rs1005345754 0.00070
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu) rs146579299 0.00068
NM_153033.4(KCTD7):c.*3826G>C rs182211775 0.00068
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu) rs757712173 0.00067
NM_001042432.2(CLN3):c.*55C>A rs199979207 0.00065
NM_000310.4(PPT1):c.*583G>A rs767942985 0.00064
NM_000391.4(TPP1):c.*829C>T rs533616443 0.00062
NM_000310.4(PPT1):c.*388G>C rs56067238 0.00061
NM_006493.4(CLN5):c.*468G>C rs752211672 0.00060
NM_017882.3(CLN6):c.*312C>T rs747144655 0.00060
NM_000310.4(PPT1):c.*1295G>C rs180769534 0.00058
NM_006493.4(CLN5):c.459G>A (p.Met153Ile) rs144656959 0.00058
NM_153033.5(KCTD7):c.*1978A>T rs537471141 0.00058
NM_153033.5(KCTD7):c.*2988A>G rs118004760 0.00057
NM_001371596.2(MFSD8):c.*463A>T rs181696565 0.00054
NM_001371596.2(MFSD8):c.886G>A (p.Asp296Asn) rs147295085 0.00054
NM_000310.4(PPT1):c.*568A>G rs541526824 0.00052
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile) rs146798796 0.00051
NM_022089.4(ATP13A2):c.3405+9C>T rs374766933 0.00051
NM_006493.4(CLN5):c.5C>T (p.Ala2Val) rs146993892 0.00050
NM_022089.4(ATP13A2):c.2331C>T (p.His777=) rs144708504 0.00050
NM_022089.4(ATP13A2):c.2972G>A (p.Arg991Gln) rs145548316 0.00050
NM_017882.3(CLN6):c.487-15C>T rs200775021 0.00049
NM_001371596.2(MFSD8):c.656T>C (p.Phe219Ser) rs112734134 0.00048
NM_001371596.2(MFSD8):c.*1058A>G rs531103173 0.00047
NM_001042432.2(CLN3):c.831G>A (p.Val277=) rs1142183 0.00045
NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val) rs145515028 0.00044
NM_000391.4(TPP1):c.*1282C>A rs1032115129 0.00042
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088 0.00042
NM_000391.4(TPP1):c.*312T>C rs201122774 0.00041
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp) rs138448968 0.00041
NM_017882.3(CLN6):c.*131G>T rs556392570 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_017882.3(CLN6):c.*882C>T rs766413849 0.00039
NM_153033.5(KCTD7):c.-69C>T rs536230559 0.00038
NM_000310.3(PPT1):c.-158C>T rs747705034 0.00037
NM_025219.3(DNAJC5):c.*3480G>C rs577249426 0.00037
NM_001909.5(CTSD):c.827+13T>C rs369602025 0.00036
NM_002087.4(GRN):c.1180-3C>T rs368307425 0.00036
NM_017882.3(CLN6):c.-38C>T rs756496671 0.00036
NM_153033.5(KCTD7):c.*1587C>T rs190087991 0.00036
NM_022089.4(ATP13A2):c.1039+6C>T rs565724504 0.00035
NM_022089.4(ATP13A2):c.1203C>T (p.Cys401=) rs148026506 0.00035
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg) rs149529997 0.00034
NM_001371596.2(MFSD8):c.*2309G>A rs753944036 0.00034
NM_001909.5(CTSD):c.1071+12A>G rs113936232 0.00034
NM_006493.4(CLN5):c.265G>A (p.Asp89Asn) rs138110438 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_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu) rs201756175 0.00034
NM_153033.5(KCTD7):c.273C>T (p.Ser91=) rs139585796 0.00034
NM_001909.5(CTSD):c.*736C>G rs577842141 0.00032
NM_000391.4(TPP1):c.1307T>C (p.Leu436Pro) rs150039898 0.00031
NM_001042432.2(CLN3):c.776C>T (p.Pro259Leu) rs137858807 0.00031
NM_022089.4(ATP13A2):c.1128C>T (p.Cys376=) rs148970081 0.00031
NM_001371596.2(MFSD8):c.1136T>C (p.Phe379Ser) rs191172038 0.00030
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_002087.4(GRN):c.635G>A (p.Arg212Gln) rs63750787 0.00029
NM_022089.4(ATP13A2):c.1244G>A (p.Arg415Gln) rs190746040 0.00029
NM_022089.4(ATP13A2):c.1352G>A (p.Arg451Gln) rs138546275 0.00029
NM_003793.4(CTSF):c.1315G>A (p.Gly439Ser) rs140795906 0.00028
NM_022089.4(ATP13A2):c.*243A>C rs777596557 0.00028
NM_025219.3(DNAJC5):c.*274C>T rs762734761 0.00028
NM_000391.4(TPP1):c.776G>A (p.Arg259His) rs140176031 0.00027
NM_000391.4(TPP1):c.319G>A (p.Gly107Arg) rs201613668 0.00026
NM_001371596.2(MFSD8):c.*2104T>C rs139930263 0.00026
NM_001909.5(CTSD):c.154G>A (p.Val52Ile) rs143517230 0.00026
NM_006493.4(CLN5):c.1045C>T (p.Pro349Ser) rs41287036 0.00026
NM_017882.3(CLN6):c.*284C>T rs536039114 0.00026
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile) rs142163063 0.00025
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr) rs147800688 0.00025
NM_022089.4(ATP13A2):c.2404G>A (p.Gly802Ser) rs752487771 0.00025
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met) rs201034755 0.00024
NM_018941.4(CLN8):c.112G>A (p.Val38Ile) rs370199508 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_001042432.2(CLN3):c.616G>A (p.Gly206Ser) rs370603922 0.00023
NM_025219.3(DNAJC5):c.*4387C>G rs550273913 0.00023
NM_001909.5(CTSD):c.*358C>T rs542969755 0.00022
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) rs63751100 0.00022
NM_017882.3(CLN6):c.100G>A (p.Ala34Thr) rs146198681 0.00022
NM_025219.3(DNAJC5):c.*2933C>T rs886056946 0.00022
NM_000391.4(TPP1):c.*223T>C rs538963672 0.00021
NM_000391.4(TPP1):c.1252C>T (p.Arg418Trp) rs143584882 0.00021
NM_006493.4(CLN5):c.656A>C (p.Glu219Ala) rs11842935 0.00021
NM_017882.3(CLN6):c.282C>A (p.Pro94=) rs139261571 0.00021
NM_022089.4(ATP13A2):c.36G>A (p.Thr12=) rs61741838 0.00021
NM_153033.5(KCTD7):c.*1581C>G rs570131389 0.00021
NM_018941.4(CLN8):c.619C>G (p.Leu207Val) rs151334741 0.00020
NM_001371596.2(MFSD8):c.677T>C (p.Ile226Thr) rs200591471 0.00019
NM_001909.5(CTSD):c.240C>T (p.Tyr80=) rs147641822 0.00019
NM_003793.4(CTSF):c.19C>T (p.Leu7Phe) rs544669445 0.00019
NM_018941.4(CLN8):c.50A>G (p.Asp17Gly) rs148668081 0.00019
NM_025219.3(DNAJC5):c.*276C>T rs764108980 0.00019
NM_153033.4(KCTD7):c.*3825T>A rs768325782 0.00019
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp) rs200138397 0.00018
NM_002087.4(GRN):c.287A>G (p.His96Arg) rs139272628 0.00018
NM_001042432.2(CLN3):c.392G>A (p.Ser131Asn) rs144770450 0.00017
NM_006493.4(CLN5):c.*963T>G rs569028453 0.00017
NM_025219.3(DNAJC5):c.*3839G>A rs145028189 0.00017
NM_001371596.2(MFSD8):c.964G>A (p.Val322Ile) rs1414250428 0.00016
NM_006493.4(CLN5):c.565+3_565+4dup rs745312608 0.00016
NM_018941.4(CLN8):c.806A>T (p.Glu269Val) rs139003032 0.00016
NM_153033.5(KCTD7):c.-155G>C rs886062408 0.00016
NM_153033.5(KCTD7):c.361C>T (p.Arg121Cys) rs199604642 0.00016
NM_000391.4(TPP1):c.*1774G>A rs886048532 0.00015
NM_001042432.2(CLN3):c.1027C>T (p.Arg343Cys) rs201407601 0.00015
NM_001042432.2(CLN3):c.677+8G>A rs368568189 0.00015
NM_006493.4(CLN5):c.19A>G (p.Thr7Ala) rs541501705 0.00015
NM_022089.4(ATP13A2):c.*58A>G rs369126613 0.00015
NM_022089.4(ATP13A2):c.1108C>T (p.Arg370Trp) rs142616130 0.00015
NM_025219.3(DNAJC5):c.*1182C>T rs753503517 0.00015
NM_025219.3(DNAJC5):c.*3375C>T rs886056951 0.00015
NM_001042432.2(CLN3):c.*200A>G rs561135374 0.00014
NM_001909.5(CTSD):c.*403C>T rs140852332 0.00014
NM_001909.5(CTSD):c.*494C>T rs551867617 0.00014
NM_001909.5(CTSD):c.758A>G (p.Lys253Arg) rs138191189 0.00014
NM_022089.4(ATP13A2):c.1449C>T (p.Tyr483=) rs750600448 0.00014
NM_022089.4(ATP13A2):c.3472C>T (p.Arg1158Cys) rs201610681 0.00014
NM_025219.3(DNAJC5):c.*3116T>A rs886056949 0.00014
NM_153033.5(KCTD7):c.*1404G>A rs1007951856 0.00014
NM_000391.4(TPP1):c.1328A>G (p.Asn443Ser) rs139343938 0.00013
NM_001371596.2(MFSD8):c.206C>T (p.Pro69Leu) rs147750747 0.00013
NM_001371596.2(MFSD8):c.934A>G (p.Ile312Val) rs77098161 0.00013
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile) rs202073338 0.00013
NM_001909.5(CTSD):c.142G>A (p.Ala48Thr) rs555516403 0.00013
NM_017882.3(CLN6):c.*246G>A rs886051441 0.00013
NM_017882.3(CLN6):c.*69G>T rs761969677 0.00013
NM_018941.4(CLN8):c.200C>T (p.Ala67Val) rs373957283 0.00013
NM_022089.4(ATP13A2):c.3040G>A (p.Gly1014Ser) rs202166353 0.00013
NM_153033.5(KCTD7):c.*668T>G rs765653009 0.00013
NM_153033.5(KCTD7):c.362G>T (p.Arg121Leu) rs199624315 0.00013
NM_000310.4(PPT1):c.*1019C>T rs1057515445 0.00012
NM_001371596.2(MFSD8):c.*1680A>G rs1048664726 0.00012
NM_001909.5(CTSD):c.90G>A (p.Thr30=) rs368529527 0.00012
NM_017882.3(CLN6):c.*1023G>A rs760989550 0.00012
NM_022089.4(ATP13A2):c.1171G>A (p.Val391Ile) rs113105667 0.00012
NM_022089.4(ATP13A2):c.1711G>A (p.Asp571Asn) rs369863178 0.00012
NM_022089.4(ATP13A2):c.3329A>G (p.Asn1110Ser) rs758675397 0.00012
NM_022089.4(ATP13A2):c.356C>T (p.Pro119Leu) rs752619582 0.00012
NM_000391.4(TPP1):c.1653C>G (p.Pro551=) rs372564255 0.00011
NM_001042432.2(CLN3):c.49G>A (p.Glu17Lys) rs386833726 0.00011
NM_001042432.2(CLN3):c.938T>C (p.Leu313Pro) rs141816714 0.00011
NM_001909.5(CTSD):c.592A>G (p.Ile198Val) rs556334193 0.00011
NM_006493.4(CLN5):c.1026A>G (p.Thr342=) rs200637649 0.00011
NM_017882.3(CLN6):c.*991C>A rs537819492 0.00011
NM_017882.3(CLN6):c.41G>A (p.Gly14Asp) rs994590268 0.00011
NM_017882.3(CLN6):c.585C>T (p.Gly195=) rs144507672 0.00011
NM_018941.4(CLN8):c.599T>C (p.Met200Thr) rs368646951 0.00011
NM_022089.4(ATP13A2):c.114C>T (p.Ser38=) rs368279466 0.00011
NM_022089.4(ATP13A2):c.1767G>A (p.Pro589=) rs752208167 0.00011
NM_022089.4(ATP13A2):c.2593G>A (p.Glu865Lys) rs148534162 0.00011
NM_022089.4(ATP13A2):c.3439C>T (p.Arg1147Cys) rs370421723 0.00011
NM_025219.3(DNAJC5):c.*3213G>A rs902946721 0.00011
NM_025219.3(DNAJC5):c.*3550C>T rs546308193 0.00011
NM_025219.3(DNAJC5):c.188C>T (p.Ala63Val) rs139312819 0.00011
NM_153033.5(KCTD7):c.-90G>A rs1031117251 0.00011
NM_153033.5(KCTD7):c.621C>A (p.Leu207=) rs376944331 0.00011
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser) rs142894102 0.00010
NM_000391.4(TPP1):c.*346A>G rs149218047 0.00010
NM_001042432.2(CLN3):c.-41C>A rs370217726 0.00010
NM_001042432.2(CLN3):c.1163C>T (p.Ala388Val) rs148514847 0.00010
NM_001042432.2(CLN3):c.361C>G (p.Leu121Val) rs752282954 0.00010
NM_001371596.2(MFSD8):c.1205C>T (p.Ser402Leu) rs200745039 0.00010
NM_001371596.2(MFSD8):c.576C>G (p.Phe192Leu) rs777020801 0.00010
NM_001371596.2(MFSD8):c.592G>A (p.Val198Met) rs377029630 0.00010
NM_001909.5(CTSD):c.14G>C (p.Ser5Thr) rs764386803 0.00010
NM_001909.5(CTSD):c.614G>A (p.Arg205His) rs371522391 0.00010
NM_002087.4(GRN):c.1555G>A (p.Val519Met) rs141111290 0.00010
NM_002087.4(GRN):c.415T>C (p.Cys139Arg) rs763841075 0.00010
NM_017882.3(CLN6):c.136G>A (p.Asp46Asn) rs147623032 0.00010
NM_018941.4(CLN8):c.53A>T (p.Tyr18Phe) rs142104002 0.00010
NM_018941.4(CLN8):c.59C>G (p.Ser20Cys) rs749651452 0.00010
NM_018941.4(CLN8):c.725C>T (p.Thr242Met) rs138821993 0.00010
NM_022089.4(ATP13A2):c.839A>G (p.Lys280Arg) rs148094721 0.00010
NM_153033.5(KCTD7):c.*1960T>C rs752605506 0.00010
NM_153033.5(KCTD7):c.*738C>G rs755200443 0.00010
NM_153033.5(KCTD7):c.-181T>G rs886062407 0.00010
NM_153033.5(KCTD7):c.193C>T (p.Arg65Cys) rs200321023 0.00010
NM_000391.4(TPP1):c.*1478T>A rs775934269 0.00009
NM_000391.4(TPP1):c.*704C>T rs1033619913 0.00009
NM_001042432.2(CLN3):c.*78G>A rs751235567 0.00009
NM_001042432.2(CLN3):c.649C>A (p.Leu217Met) rs150913606 0.00009
NM_001042432.2(CLN3):c.754C>T (p.Pro252Ser) rs769104531 0.00009
NM_001042432.2(CLN3):c.759C>A (p.Leu253=) rs772274552 0.00009
NM_001909.5(CTSD):c.-24C>T rs587780917 0.00009
NM_002087.4(GRN):c.329G>A (p.Arg110Gln) rs375439809 0.00009
NM_002087.4(GRN):c.497C>T (p.Pro166Leu) rs368705304 0.00009
NM_002087.4(GRN):c.53C>T (p.Thr18Met) rs199572314 0.00009
NM_006493.4(CLN5):c.-4C>T rs587780896 0.00009
NM_006493.4(CLN5):c.-83G>T rs576642281 0.00009
NM_006493.4(CLN5):c.1019A>C (p.Lys340Thr) rs745767054 0.00009
NM_006493.4(CLN5):c.812A>G (p.Asn271Ser) rs199609750 0.00009
NM_017882.3(CLN6):c.*1109G>A rs560713030 0.00009
NM_017882.3(CLN6):c.298-15C>T rs368661456 0.00009
NM_018941.4(CLN8):c.455A>G (p.Asn152Ser) rs138581191 0.00009
NM_022089.4(ATP13A2):c.233G>A (p.Arg78Gln) rs773087322 0.00009
NM_022089.4(ATP13A2):c.2771G>A (p.Arg924His) rs564643512 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.880C>T (p.Arg294Trp) rs144898239 0.00009
NM_025219.3(DNAJC5):c.*4036G>A rs758582743 0.00009
NM_000310.4(PPT1):c.*470T>C rs979602950 0.00008
NM_000310.4(PPT1):c.802C>T (p.Arg268Cys) rs200813294 0.00008
NM_000391.4(TPP1):c.1058C>A (p.Thr353Asn) rs145966505 0.00008
NM_001042432.2(CLN3):c.1209G>A (p.Glu403=) rs377369610 0.00008
NM_001909.5(CTSD):c.*130G>A rs1002940636 0.00008
NM_002087.4(GRN):c.229G>A (p.Val77Ile) rs148531161 0.00008
NM_006493.4(CLN5):c.-47C>G rs937545860 0.00008
NM_006493.4(CLN5):c.-96C>T rs773979248 0.00008
NM_017882.3(CLN6):c.*470C>T rs565006193 0.00008
NM_017882.3(CLN6):c.*481T>G rs746416658 0.00008
NM_018941.4(CLN8):c.300G>A (p.Gln100=) rs148988002 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.2236G>A (p.Ala746Thr) rs147277743 0.00008
NM_022089.4(ATP13A2):c.2951C>T (p.Ala984Val) rs375552345 0.00008
NM_022089.4(ATP13A2):c.3320C>T (p.Ala1107Val) rs755307953 0.00008
NM_025219.3(DNAJC5):c.*1557T>G rs542172964 0.00008
NM_025219.3(DNAJC5):c.*322G>A rs143646564 0.00008
NM_000310.4(PPT1):c.*811A>G rs544749186 0.00007
NM_000310.4(PPT1):c.234+6G>A rs587781122 0.00007
NM_000391.4(TPP1):c.859A>G (p.Ile287Val) rs578253592 0.00007
NM_000391.4(TPP1):c.947C>A (p.Ala316Asp) rs149463616 0.00007
NM_001042432.2(CLN3):c.250C>A (p.His84Asn) rs201329358 0.00007
NM_001042432.2(CLN3):c.291G>A (p.Thr97=) rs367945307 0.00007
NM_001371596.2(MFSD8):c.*734A>G rs1027710245 0.00007
NM_001371596.2(MFSD8):c.1423G>C (p.Val475Leu) rs528664888 0.00007
NM_001909.5(CTSD):c.*398G>A rs776662882 0.00007
NM_006493.4(CLN5):c.569A>G (p.Asn190Ser) rs369100769 0.00007
NM_006493.4(CLN5):c.642A>T (p.Val214=) rs751496223 0.00007
NM_017882.3(CLN6):c.*175C>T rs886051444 0.00007
NM_018941.4(CLN8):c.856C>T (p.Pro286Ser) rs759475160 0.00007
NM_022089.4(ATP13A2):c.1658G>A (p.Arg553Gln) rs376011760 0.00007
NM_022089.4(ATP13A2):c.2326G>C (p.Val776Leu) rs56170027 0.00007
NM_022089.4(ATP13A2):c.3193G>A (p.Val1065Met) rs377431904 0.00007
NM_022089.4(ATP13A2):c.3297C>T (p.Pro1099=) rs756650754 0.00007
NM_022089.4(ATP13A2):c.3409G>A (p.Val1137Met) rs528943677 0.00007
NM_022089.4(ATP13A2):c.3539G>A (p.Arg1180Lys) rs771312962 0.00007
NM_025219.3(DNAJC5):c.-186C>T rs886056927 0.00007
NM_025219.3(DNAJC5):c.565C>T (p.His189Tyr) rs377119075 0.00007
NM_153033.5(KCTD7):c.76G>T (p.Asp26Tyr) rs371919994 0.00007
NM_000310.4(PPT1):c.*340T>G rs1012813914 0.00006
NM_000310.4(PPT1):c.*6G>A rs113082671 0.00006
NM_000310.4(PPT1):c.*781A>T rs1057515517 0.00006
NM_000310.4(PPT1):c.*802C>T rs983979078 0.00006
NM_000310.4(PPT1):c.175G>A (p.Glu59Lys) rs750533343 0.00006
NM_000310.4(PPT1):c.17G>A (p.Cys6Tyr) rs202241486 0.00006
NM_000391.4(TPP1):c.*1428T>C rs188544089 0.00006
NM_000391.4(TPP1):c.313G>T (p.Ala105Ser) rs368435226 0.00006
NM_000391.4(TPP1):c.323C>T (p.Ala108Val) rs374132017 0.00006
NM_000391.4(TPP1):c.437C>T (p.Thr146Met) rs748686068 0.00006
NM_000391.4(TPP1):c.523C>T (p.Arg175Cys) rs750241218 0.00006
NM_000391.4(TPP1):c.665A>G (p.Asn222Ser) rs372787642 0.00006
NM_001042432.2(CLN3):c.1120G>A (p.Val374Ile) rs759049027 0.00006
NM_001042432.2(CLN3):c.1229C>T (p.Ala410Val) rs369801432 0.00006
NM_001042432.2(CLN3):c.1240A>G (p.Ile414Val) rs146124686 0.00006
NM_001042432.2(CLN3):c.126-8C>T rs770136863 0.00006
NM_001042432.2(CLN3):c.222T>C (p.His74=) rs201225986 0.00006
NM_001042432.2(CLN3):c.244A>T (p.Ile82Phe) rs370020452 0.00006
NM_001042432.2(CLN3):c.290C>T (p.Thr97Met) rs376421578 0.00006
NM_001371596.2(MFSD8):c.409G>A (p.Val137Ile) rs146479250 0.00006
NM_001371596.2(MFSD8):c.689C>T (p.Ala230Val) rs375681665 0.00006
NM_001909.5(CTSD):c.184G>A (p.Val62Met) rs756892066 0.00006
NM_001909.5(CTSD):c.926G>A (p.Arg309His) rs374540411 0.00006
NM_002087.4(GRN):c.1562G>A (p.Cys521Tyr) rs553119528 0.00006
NM_002087.4(GRN):c.268G>A (p.Val90Met) rs200019356 0.00006
NM_002087.4(GRN):c.361G>A (p.Val121Met) rs780731069 0.00006
NM_002087.4(GRN):c.442G>A (p.Gly148Arg) rs375343686 0.00006
NM_002087.4(GRN):c.56G>A (p.Arg19Gln) rs764665710 0.00006
NM_002087.4(GRN):c.881A>G (p.Tyr294Cys) rs752345618 0.00006
NM_003793.4(CTSF):c.1100A>G (p.Asn367Ser) rs201500574 0.00006
NM_003793.4(CTSF):c.1243G>A (p.Gly415Arg) rs200426008 0.00006
NM_006493.4(CLN5):c.1048A>G (p.Ile350Val) rs762333226 0.00006
NM_006493.4(CLN5):c.152G>A (p.Arg51His) rs367952803 0.00006
NM_006493.4(CLN5):c.662G>A (p.Gly221Glu) rs368428437 0.00006
NM_017882.3(CLN6):c.*179G>C rs886051443 0.00006
NM_017882.3(CLN6):c.11C>T (p.Thr4Met) rs1017662486 0.00006
NM_017882.3(CLN6):c.271G>A (p.Val91Ile) rs140519790 0.00006
NM_017882.3(CLN6):c.278C>T (p.Thr93Met) rs150001589 0.00006
NM_017882.3(CLN6):c.316C>T (p.Arg106Cys) rs202226970 0.00006
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys) rs747229909 0.00006
NM_017882.3(CLN6):c.597C>G (p.Ala199=) rs368546281 0.00006
NM_017882.3(CLN6):c.728C>T (p.Ala243Val) rs767164948 0.00006
NM_017882.3(CLN6):c.799G>A (p.Ala267Thr) rs374613712 0.00006
NM_018941.4(CLN8):c.287C>T (p.Ala96Val) rs775400768 0.00006
NM_022089.4(ATP13A2):c.1064C>T (p.Thr355Met) rs555691965 0.00006
NM_022089.4(ATP13A2):c.1243C>T (p.Arg415Trp) rs768796427 0.00006
NM_022089.4(ATP13A2):c.1925C>T (p.Ala642Val) rs147260398 0.00006
NM_022089.4(ATP13A2):c.212G>T (p.Trp71Leu) rs373607247 0.00006
NM_022089.4(ATP13A2):c.2406C>T (p.Gly802=) rs886045580 0.00006
NM_022089.4(ATP13A2):c.2663C>T (p.Ala888Val) rs190323680 0.00006
NM_022089.4(ATP13A2):c.3257C>T (p.Ala1086Val) rs370677966 0.00006
NM_022089.4(ATP13A2):c.461C>T (p.Ala154Val) rs376169767 0.00006
NM_022089.4(ATP13A2):c.745G>A (p.Ala249Thr) rs199661793 0.00006
NM_022089.4(ATP13A2):c.778G>A (p.Ala260Thr) rs761338717 0.00006
NM_025219.3(DNAJC5):c.*1927G>A rs187307345 0.00006
NM_025219.3(DNAJC5):c.-95G>C rs886056932 0.00006
NM_025219.3(DNAJC5):c.524C>T (p.Pro175Leu) rs761982169 0.00006
NM_153033.5(KCTD7):c.*2530G>A rs188529052 0.00006
NM_153033.5(KCTD7):c.*3508G>T rs573049844 0.00006
NM_153033.5(KCTD7):c.*837A>G rs886062415 0.00006
NM_153033.5(KCTD7):c.256T>C (p.Tyr86His) rs149255570 0.00006
NM_153033.5(KCTD7):c.266C>T (p.Thr89Met) rs375586745 0.00006
NM_000310.4(PPT1):c.*701G>A rs997860980 0.00005
NM_000310.4(PPT1):c.*727A>C rs764870558 0.00005
NM_000310.4(PPT1):c.362+4C>T rs534592472 0.00005
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu) rs386833646 0.00005
NM_000310.4(PPT1):c.856G>A (p.Glu286Lys) rs141405110 0.00005
NM_000391.4(TPP1):c.1425G>A (p.Ser475=) rs779333902 0.00005
NM_000391.4(TPP1):c.1490G>A (p.Arg497His) rs549928656 0.00005
NM_000391.4(TPP1):c.1664C>A (p.Ala555Asp) rs200880556 0.00005
NM_000391.4(TPP1):c.807C>T (p.Ala269=) rs148222726 0.00005
NM_001042432.2(CLN3):c.101A>G (p.His34Arg) rs759668300 0.00005
NM_001042432.2(CLN3):c.1158C>T (p.Gly386=) rs145340637 0.00005
NM_001042432.2(CLN3):c.32T>C (p.Phe11Ser) rs752205710 0.00005
NM_001042432.2(CLN3):c.418G>A (p.Val140Ile) rs373034150 0.00005
NM_001042432.2(CLN3):c.626C>T (p.Pro209Leu) rs139417824 0.00005
NM_001371596.2(MFSD8):c.772C>G (p.Gln258Glu) rs976533060 0.00005
NM_001909.5(CTSD):c.1071+6C>T rs759803379 0.00005
NM_001909.5(CTSD):c.1208G>C (p.Arg403Thr) rs779858404 0.00005
NM_001909.5(CTSD):c.505C>G (p.Leu169Val) rs768487717 0.00005
NM_002087.4(GRN):c.128G>A (p.Arg43His) rs766068311 0.00005
NM_002087.4(GRN):c.1540G>A (p.Val514Met) rs142926942 0.00005
NM_002087.4(GRN):c.634C>T (p.Arg212Trp) rs139375860 0.00005
NM_002087.4(GRN):c.803C>T (p.Thr268Met) rs202006119 0.00005
NM_003793.4(CTSF):c.1237C>T (p.Arg413Cys) rs779164010 0.00005
NM_006493.4(CLN5):c.-21G>A rs529998879 0.00005
NM_017882.3(CLN6):c.749G>A (p.Arg250His) rs554594996 0.00005
NM_017882.3(CLN6):c.832G>A (p.Ala278Thr) rs143728911 0.00005
NM_022089.4(ATP13A2):c.1202G>A (p.Cys401Tyr) rs377186549 0.00005
NM_022089.4(ATP13A2):c.157G>A (p.Val53Met) rs142699829 0.00005
NM_022089.4(ATP13A2):c.2260C>G (p.Leu754Val) rs139909551 0.00005
NM_022089.4(ATP13A2):c.3378C>T (p.Leu1126=) rs773914880 0.00005
NM_022089.4(ATP13A2):c.601C>T (p.Arg201Cys) rs760715676 0.00005
NM_022089.4(ATP13A2):c.658G>A (p.Val220Met) rs367693423 0.00005
NM_022089.4(ATP13A2):c.943G>A (p.Gly315Arg) rs150519745 0.00005
NM_022089.4(ATP13A2):c.994G>A (p.Ala332Thr) rs141816878 0.00005
NM_025219.3(DNAJC5):c.*1934T>G rs768056284 0.00005
NM_153033.5(KCTD7):c.*516T>C rs865998140 0.00005
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala) rs201296399 0.00005
NM_000310.4(PPT1):c.*991T>C rs149722250 0.00004
NM_000310.4(PPT1):c.234+7C>T rs200777536 0.00004
NM_000310.4(PPT1):c.535C>T (p.Arg179Cys) rs560471003 0.00004
NM_000310.4(PPT1):c.586C>T (p.Arg196Cys) rs376715840 0.00004
NM_000310.4(PPT1):c.62C>T (p.Ser21Phe) rs796052922 0.00004
NM_000391.4(TPP1):c.*785T>G rs764323122 0.00004
NM_000391.4(TPP1):c.1003G>A (p.Ala335Thr) rs146927291 0.00004
NM_000391.4(TPP1):c.1045G>A (p.Ala349Thr) rs1085307673 0.00004
NM_000391.4(TPP1):c.138G>T (p.Glu46Asp) rs778900807 0.00004
NM_000391.4(TPP1):c.1489C>T (p.Arg497Cys) rs377700188 0.00004
NM_000391.4(TPP1):c.225A>G (p.Gln75=) rs368709098 0.00004
NM_000391.4(TPP1):c.249G>T (p.Glu83Asp) rs771113565 0.00004
NM_000391.4(TPP1):c.438G>A (p.Thr146=) rs777339172 0.00004
NM_000391.4(TPP1):c.563C>T (p.Pro188Leu) rs550590502 0.00004
NM_000391.4(TPP1):c.770T>C (p.Val257Ala) rs763009524 0.00004
NM_000391.4(TPP1):c.797G>A (p.Arg266Gln) rs757953998 0.00004
NM_000391.4(TPP1):c.889C>T (p.Arg297Trp) rs553122824 0.00004
NM_001042432.2(CLN3):c.*29A>G rs778438984 0.00004
NM_001042432.2(CLN3):c.1012C>T (p.Arg338Cys) rs776725094 0.00004
NM_001042432.2(CLN3):c.1087G>A (p.Val363Met) rs370963882 0.00004
NM_001042432.2(CLN3):c.1119C>T (p.Leu373=) rs376478363 0.00004
NM_001042432.2(CLN3):c.1168G>A (p.Val390Met) rs777383109 0.00004
NM_001042432.2(CLN3):c.125+3G>A rs775577824 0.00004
NM_001042432.2(CLN3):c.239C>T (p.Thr80Met) rs775999656 0.00004
NM_001042432.2(CLN3):c.460+3G>A rs779238243 0.00004
NM_001042432.2(CLN3):c.516C>T (p.Leu172=) rs148846795 0.00004
NM_001042432.2(CLN3):c.568G>A (p.Gly190Arg) rs1311480802 0.00004
NM_001042432.2(CLN3):c.859C>T (p.Pro287Ser) rs796052341 0.00004
NM_001042432.2(CLN3):c.988G>A (p.Val330Ile) rs386833744 0.00004
NM_001371596.2(MFSD8):c.1174G>A (p.Glu392Lys) rs773610115 0.00004
NM_001371596.2(MFSD8):c.1322A>G (p.Tyr441Cys) rs749153763 0.00004
NM_001371596.2(MFSD8):c.1475T>C (p.Ile492Thr) rs183448311 0.00004
NM_001371596.2(MFSD8):c.14G>C (p.Arg5Pro) rs139409959 0.00004
NM_001371596.2(MFSD8):c.34C>T (p.Pro12Ser) rs371882083 0.00004
NM_001371596.2(MFSD8):c.767A>C (p.Glu256Ala) rs763119554 0.00004
NM_001371596.2(MFSD8):c.961G>A (p.Val321Ile) rs76506918 0.00004
NM_001909.5(CTSD):c.*117C>T rs527778631 0.00004
NM_001909.5(CTSD):c.*390G>A rs1262477522 0.00004
NM_001909.5(CTSD):c.1084G>A (p.Gly362Arg) rs746733183 0.00004
NM_001909.5(CTSD):c.1183A>G (p.Thr395Ala) rs778724059 0.00004
NM_001909.5(CTSD):c.283G>A (p.Val95Ile) rs141482597 0.00004
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe) rs796052407 0.00004
NM_001909.5(CTSD):c.376G>A (p.Asp126Asn) rs796052401 0.00004
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu) rs587779409 0.00004
NM_001909.5(CTSD):c.704+6C>T rs370847523 0.00004
NM_002087.4(GRN):c.1145C>T (p.Thr382Met) rs768333369 0.00004
NM_002087.4(GRN):c.1193C>T (p.Ser398Leu) rs148213321 0.00004
NM_002087.4(GRN):c.1226C>T (p.Thr409Met) rs373885474 0.00004
NM_002087.4(GRN):c.1514C>G (p.Ala505Gly) rs780159686 0.00004
NM_002087.4(GRN):c.1648G>A (p.Val550Ile) rs63750754 0.00004
NM_002087.4(GRN):c.1712A>G (p.Lys571Arg) rs145344570 0.00004
NM_002087.4(GRN):c.1721G>A (p.Arg574His) rs756117423 0.00004
NM_002087.4(GRN):c.698C>A (p.Pro233Gln) rs63750455 0.00004
NM_006493.2(CLN5):c.-8G>A rs772316134 0.00004
NM_006493.4(CLN5):c.*636A>G rs755618302 0.00004
NM_006493.4(CLN5):c.*954T>C rs886050317 0.00004
NM_006493.4(CLN5):c.1A>T (p.Met1Leu) rs371624826 0.00004
NM_006493.4(CLN5):c.486C>T (p.Gly162=) rs769007858 0.00004
NM_017882.3(CLN6):c.-101A>G rs555985698 0.00004
NM_017882.3(CLN6):c.103G>A (p.Asp35Asn) rs533231370 0.00004
NM_017882.3(CLN6):c.259A>G (p.Met87Val) rs532180601 0.00004
NM_017882.3(CLN6):c.328C>T (p.Arg110Cys) rs143928329 0.00004
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu) rs587780316 0.00004
NM_017882.3(CLN6):c.754C>T (p.Arg252Cys) rs145746878 0.00004
NM_017882.3(CLN6):c.755G>A (p.Arg252His) rs374681194 0.00004
NM_018941.4(CLN8):c.108G>C (p.Leu36Phe) rs746677418 0.00004
NM_018941.4(CLN8):c.332C>T (p.Thr111Met) rs778188757 0.00004
NM_018941.4(CLN8):c.385C>T (p.Arg129Trp) rs143694317 0.00004
NM_018941.4(CLN8):c.386G>A (p.Arg129Gln) rs571617007 0.00004
NM_018941.4(CLN8):c.523G>A (p.Val175Ile) rs768139689 0.00004
NM_018941.4(CLN8):c.545C>T (p.Ala182Val) rs541994118 0.00004
NM_018941.4(CLN8):c.556G>A (p.Glu186Lys) rs756636772 0.00004
NM_018941.4(CLN8):c.661G>A (p.Gly221Ser) rs386834136 0.00004
NM_018941.4(CLN8):c.776A>G (p.Asn259Ser) rs201956727 0.00004
NM_018941.4(CLN8):c.844C>T (p.Arg282Trp) rs587780898 0.00004
NM_022089.4(ATP13A2):c.*155C>T rs762111359 0.00004
NM_022089.4(ATP13A2):c.-151C>T rs886045583 0.00004
NM_022089.4(ATP13A2):c.1542+3G>A rs747456787 0.00004
NM_022089.4(ATP13A2):c.1545G>A (p.Thr515=) rs373005131 0.00004
NM_022089.4(ATP13A2):c.1630C>T (p.Arg544Cys) rs893985839 0.00004
NM_022089.4(ATP13A2):c.1766C>T (p.Pro589Leu) rs758992649 0.00004
NM_022089.4(ATP13A2):c.2407G>A (p.Val803Ile) rs747785443 0.00004
NM_022089.4(ATP13A2):c.2412G>A (p.Lys804=) rs978493820 0.00004
NM_022089.4(ATP13A2):c.2558G>A (p.Arg853His) rs745954026 0.00004
NM_022089.4(ATP13A2):c.25G>A (p.Val9Met) rs143579092 0.00004
NM_022089.4(ATP13A2):c.2640C>T (p.Ala880=) rs567287489 0.00004
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met) rs768674400 0.00004
NM_022089.4(ATP13A2):c.2828C>T (p.Thr943Ile) rs1401431520 0.00004
NM_022089.4(ATP13A2):c.2952G>A (p.Ala984=) rs138212767 0.00004
NM_022089.4(ATP13A2):c.3112G>A (p.Ala1038Thr) rs757076945 0.00004
NM_022089.4(ATP13A2):c.3215G>A (p.Arg1072His) rs371220869 0.00004
NM_022089.4(ATP13A2):c.3442C>T (p.Arg1148Cys) rs759327218 0.00004
NM_022089.4(ATP13A2):c.3443G>A (p.Arg1148His) rs533548757 0.00004
NM_022089.4(ATP13A2):c.374C>G (p.Ala125Gly) rs1050244144 0.00004
NM_022089.4(ATP13A2):c.394G>A (p.Ala132Thr) rs200934541 0.00004
NM_022089.4(ATP13A2):c.649G>A (p.Gly217Ser) rs199961048 0.00004
NM_022089.4(ATP13A2):c.722A>G (p.Tyr241Cys) rs1221004929 0.00004
NM_025219.3(DNAJC5):c.*1304G>A rs865818369 0.00004
NM_025219.3(DNAJC5):c.*2171G>A rs185288496 0.00004
NM_025219.3(DNAJC5):c.*2993C>T rs886056947 0.00004
NM_153033.4(KCTD7):c.*3836T>G rs370135424 0.00004
NM_153033.5(KCTD7):c.*3404T>C rs1206471914 0.00004
NM_153033.5(KCTD7):c.-55C>T rs927832797 0.00004
NM_153033.5(KCTD7):c.217G>A (p.Glu73Lys) rs772773351 0.00004
NM_153033.5(KCTD7):c.506G>A (p.Arg169Gln) rs745917176 0.00004
NM_153033.5(KCTD7):c.523C>T (p.Arg175Trp) rs568539835 0.00004
NC_000013.11:g.76991973G>C rs762873839 0.00003
NC_000013.11:g.76992067C>G rs61504484 0.00003
NM_000310.4(PPT1):c.-10C>T rs761610817 0.00003
NM_000310.4(PPT1):c.282A>G (p.Thr94=) rs753828114 0.00003
NM_000310.4(PPT1):c.310A>G (p.Lys104Glu) rs386833641 0.00003
NM_000310.4(PPT1):c.363G>T (p.Leu121=) rs201820661 0.00003
NM_000310.4(PPT1):c.587G>A (p.Arg196His) rs939858453 0.00003
NM_000310.4(PPT1):c.676G>A (p.Val226Met) rs375190067 0.00003
NM_000310.4(PPT1):c.803G>A (p.Arg268His) rs763536047 0.00003
NM_000391.4(TPP1):c.*44T>A rs370517226 0.00003
NM_000391.4(TPP1):c.1116C>G (p.His372Gln) rs751321300 0.00003
NM_000391.4(TPP1):c.1217A>G (p.Tyr406Cys) rs780670020 0.00003
NM_000391.4(TPP1):c.1466A>G (p.Asn489Ser) rs751645191 0.00003
NM_000391.4(TPP1):c.1495C>G (p.Pro499Ala) rs201126448 0.00003
NM_000391.4(TPP1):c.1551+5G>A rs778756815 0.00003
NM_000391.4(TPP1):c.1559G>A (p.Arg520His) rs368697480 0.00003
NM_000391.4(TPP1):c.78C>A (p.Asp26Glu) rs760252179 0.00003
NM_000391.4(TPP1):c.803G>A (p.Arg268Gln) rs141920079 0.00003
NM_000391.4(TPP1):c.887-18A>G rs935526225 0.00003
NM_001042432.2(CLN3):c.1028G>A (p.Arg343His) rs771305783 0.00003
NM_001042432.2(CLN3):c.1086C>G (p.Asp362Glu) rs376907245 0.00003
NM_001042432.2(CLN3):c.1203T>A (p.Ser401Arg) rs764585366 0.00003
NM_001042432.2(CLN3):c.1262C>T (p.Ser421Phe) rs778225078 0.00003
NM_001042432.2(CLN3):c.206C>T (p.Ser69Leu) rs769840061 0.00003
NM_001042432.2(CLN3):c.461-3C>A rs181995380 0.00003
NM_001042432.2(CLN3):c.47-3C>T rs377583228 0.00003
NM_001042432.2(CLN3):c.644C>A (p.Ser215Tyr) rs1328657534 0.00003
NM_001371596.2(MFSD8):c.*1161A>C rs767418097 0.00003
NM_001371596.2(MFSD8):c.*2294G>A rs924270202 0.00003
NM_001371596.2(MFSD8):c.*695A>G rs886059068 0.00003
NM_001371596.2(MFSD8):c.18C>G (p.Asn6Lys) rs771879274 0.00003
NM_001371596.2(MFSD8):c.256G>A (p.Gly86Ser) rs552923962 0.00003
NM_001371596.2(MFSD8):c.291G>C (p.Trp97Cys) rs796052749 0.00003
NM_001371596.2(MFSD8):c.343G>A (p.Val115Met) rs183450731 0.00003
NM_001371596.2(MFSD8):c.652G>A (p.Ala218Thr) rs368614789 0.00003
NM_001371596.2(MFSD8):c.707G>A (p.Arg236His) rs371250204 0.00003
NM_001909.5(CTSD):c.*654C>T rs148490566 0.00003
NM_001909.5(CTSD):c.-37G>A rs756112449 0.00003
NM_001909.5(CTSD):c.511G>A (p.Gly171Ser) rs775460488 0.00003
NM_001909.5(CTSD):c.69-17C>A rs371858126 0.00003
NM_001909.5(CTSD):c.74C>T (p.Pro25Leu) rs145852974 0.00003
NM_001909.5(CTSD):c.817C>T (p.His273Tyr) rs145905196 0.00003
NM_001909.5(CTSD):c.969C>T (p.Gly323=) rs774332555 0.00003
NM_002087.4(GRN):c.1112G>C (p.Ser371Thr) rs149023078 0.00003
NM_002087.4(GRN):c.1294C>T (p.Arg432Cys) rs63750130 0.00003
NM_002087.4(GRN):c.302G>A (p.Arg101Gln) rs201686997 0.00003
NM_002087.4(GRN):c.662G>C (p.Cys221Ser) rs758322775 0.00003
NM_002087.4(GRN):c.827C>T (p.Ala276Val) rs202178902 0.00003
NM_002087.4(GRN):c.861G>C (p.Glu287Asp) rs63750565 0.00003
NM_003793.4(CTSF):c.1253G>A (p.Arg418His) rs141345438 0.00003
NM_003793.4(CTSF):c.613C>T (p.Arg205Trp) rs568250930 0.00003
NM_006493.4(CLN5):c.-103G>T rs777933047 0.00003
NM_006493.4(CLN5):c.-123C>T rs767048749 0.00003
NM_006493.4(CLN5):c.-141C>T rs759859373 0.00003
NM_006493.4(CLN5):c.-14C>T rs768714949 0.00003
NM_006493.4(CLN5):c.-78G>T rs540811599 0.00003
NM_006493.4(CLN5):c.304T>G (p.Trp102Gly) rs1048147140 0.00003
NM_006493.4(CLN5):c.371G>A (p.Ser124Asn) rs369122820 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_006493.4(CLN5):c.487G>A (p.Ala163Thr) rs148544801 0.00003
NM_006493.4(CLN5):c.572T>C (p.Met191Thr) rs771119692 0.00003
NM_006493.4(CLN5):c.78G>T (p.Trp26Cys) rs104894385 0.00003
NM_006493.4(CLN5):c.869G>T (p.Arg290Ile) rs770688728 0.00003
NM_017882.3(CLN6):c.-92C>T rs942971560 0.00003
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp) rs886285802 0.00003
NM_017882.3(CLN6):c.329G>A (p.Arg110His) rs140179213 0.00003
NM_017882.3(CLN6):c.338C>T (p.Thr113Met) rs758830997 0.00003
NM_017882.3(CLN6):c.446G>A (p.Arg149His) rs154774638 0.00003
NM_017882.3(CLN6):c.634C>T (p.Leu212Phe) rs751562146 0.00003
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295 0.00003
NM_017882.3(CLN6):c.821C>T (p.Ala274Val) rs202012876 0.00003
NM_017882.3(CLN6):c.831C>T (p.Val277=) rs753344266 0.00003
NM_017882.3(CLN6):c.872C>T (p.Pro291Leu) rs373652272 0.00003
NM_018941.4(CLN8):c.137C>A (p.Ser46Tyr) rs1418349889 0.00003
NM_018941.4(CLN8):c.206C>T (p.Thr69Met) rs776409703 0.00003
NM_018941.4(CLN8):c.288G>A (p.Ala96=) rs533351136 0.00003
NM_018941.4(CLN8):c.470A>G (p.His157Arg) rs149308952 0.00003
NM_018941.4(CLN8):c.503T>C (p.Met168Thr) rs374031055 0.00003
NM_018941.4(CLN8):c.582G>A (p.Gln194=) rs139824802 0.00003
NM_018941.4(CLN8):c.585G>C (p.Trp195Cys) rs778435359 0.00003
NM_018941.4(CLN8):c.697C>G (p.Leu233Val) rs1380901432 0.00003
NM_018941.4(CLN8):c.94T>C (p.Phe32Leu) rs758068226 0.00003
NM_022089.4(ATP13A2):c.1205C>T (p.Thr402Met) rs763632781 0.00003
NM_022089.4(ATP13A2):c.1634G>A (p.Arg545His) rs200337290 0.00003
NM_022089.4(ATP13A2):c.1895C>T (p.Ser632Leu) rs376070950 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.265G>A (p.Val89Ile) rs534590083 0.00003
NM_022089.4(ATP13A2):c.2681C>T (p.Ser894Leu) rs376348581 0.00003
NM_022089.4(ATP13A2):c.2978C>T (p.Pro993Leu) rs146559160 0.00003
NM_022089.4(ATP13A2):c.3059A>G (p.Tyr1020Cys) rs372182128 0.00003
NM_022089.4(ATP13A2):c.42C>T (p.Thr14=) rs371850140 0.00003
NM_022089.4(ATP13A2):c.431A>T (p.Asp144Val) rs145031260 0.00003
NM_022089.4(ATP13A2):c.574C>T (p.Arg192Cys) rs372857244 0.00003
NM_025219.3(DNAJC5):c.*1391G>A rs886056944 0.00003
NM_025219.3(DNAJC5):c.340G>A (p.Gly114Ser) rs995618637 0.00003
NM_025219.3(DNAJC5):c.389A>G (p.Asn130Ser) rs761814066 0.00003
NM_025219.3(DNAJC5):c.509C>T (p.Pro170Leu) rs770758533 0.00003
NM_153033.5(KCTD7):c.*2746G>C rs886062424 0.00003
NM_153033.5(KCTD7):c.-46C>G rs886062412 0.00003
NM_153033.5(KCTD7):c.-94C>T rs886062410 0.00003
NM_153033.5(KCTD7):c.121G>A (p.Ala41Thr) rs766856368 0.00003
NM_153033.5(KCTD7):c.145T>C (p.Phe49Leu) rs559020294 0.00003
NM_153033.5(KCTD7):c.226A>G (p.Met76Val) rs200569899 0.00003
NM_153033.5(KCTD7):c.400A>G (p.Ile134Val) rs751720071 0.00003
NC_000013.11:g.76991952A>C rs1268502139 0.00002
NM_000310.4(PPT1):c.*910C>T rs1057515446 0.00002
NM_000310.4(PPT1):c.14G>C (p.Gly5Ala) rs757580857 0.00002
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr) rs386833640 0.00002
NM_000310.4(PPT1):c.416T>C (p.Val139Ala) rs766961054 0.00002
NM_000310.4(PPT1):c.537-12T>C rs1057515556 0.00002
NM_000310.4(PPT1):c.628G>C (p.Gly210Arg) rs200434104 0.00002
NM_000310.4(PPT1):c.875T>C (p.Leu292Ser) rs199708990 0.00002
NM_000391.4(TPP1):c.*1560C>T rs541932361 0.00002
NM_000391.4(TPP1):c.*984T>A rs1000719227 0.00002
NM_000391.4(TPP1):c.1090G>A (p.Gly364Arg) rs756237773 0.00002
NM_000391.4(TPP1):c.1145G>A (p.Ser382Asn) rs761448855 0.00002
NM_000391.4(TPP1):c.1281G>A (p.Thr427=) rs577520250 0.00002
NM_000391.4(TPP1):c.1451T>C (p.Ile484Thr) rs748533410 0.00002
NM_000391.4(TPP1):c.1552-9C>T rs369699167 0.00002
NM_000391.4(TPP1):c.1663G>A (p.Ala555Thr) rs1421089514 0.00002
NM_000391.4(TPP1):c.425T>G (p.Val142Gly) rs775217501 0.00002
NM_000391.4(TPP1):c.53A>T (p.Lys18Ile) rs751704816 0.00002
NM_000391.4(TPP1):c.638C>T (p.Ser213Leu) rs773546205 0.00002
NM_000391.4(TPP1):c.782T>C (p.Val261Ala) rs146136938 0.00002
NM_000391.4(TPP1):c.79C>G (p.Gln27Glu) rs775155638 0.00002
NM_000391.4(TPP1):c.83G>A (p.Arg28Gln) rs369126677 0.00002
NM_000391.4(TPP1):c.890G>A (p.Arg297Gln) rs796053441 0.00002
NM_000391.4(TPP1):c.90-3C>T rs767078570 0.00002
NM_000391.4(TPP1):c.956A>G (p.His319Arg) rs745310554 0.00002
NM_000391.4(TPP1):c.965C>T (p.Thr322Ile) rs773946638 0.00002
NM_001042432.2(CLN3):c.*187G>A rs867117606 0.00002
NM_001042432.2(CLN3):c.1186A>G (p.Ile396Val) rs781253826 0.00002
NM_001042432.2(CLN3):c.1305C>G (p.Cys435Trp) rs1216521924 0.00002
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr) rs765893479 0.00002
NM_001042432.2(CLN3):c.197A>G (p.Lys66Arg) rs769447444 0.00002
NM_001042432.2(CLN3):c.380G>A (p.Arg127Gln) rs780776829 0.00002
NM_001042432.2(CLN3):c.641T>C (p.Leu214Pro) rs749609898 0.00002
NM_001042432.2(CLN3):c.748C>T (p.Arg250Trp) rs764881080 0.00002
NM_001042432.2(CLN3):c.749G>A (p.Arg250Gln) rs374217931 0.00002
NM_001042432.2(CLN3):c.814C>T (p.Arg272Trp) rs113041302 0.00002
NM_001042432.2(CLN3):c.815G>A (p.Arg272Gln) rs145270402 0.00002
NM_001042432.2(CLN3):c.946G>A (p.Ala316Thr) rs780974004 0.00002
NM_001371596.2(MFSD8):c.*1455G>A rs979851286 0.00002
NM_001371596.2(MFSD8):c.*2314G>A rs1386466120 0.00002
NM_001371596.2(MFSD8):c.1102+6G>A rs772154101 0.00002
NM_001371596.2(MFSD8):c.1107G>C (p.Leu369Phe) rs747197852 0.00002
NM_001371596.2(MFSD8):c.1445G>A (p.Arg482Gln) rs547726489 0.00002
NM_001371596.2(MFSD8):c.1535G>A (p.Arg512Lys) rs796052748 0.00002
NM_001371596.2(MFSD8):c.178A>G (p.Ile60Val) rs143902749 0.00002
NM_001371596.2(MFSD8):c.277A>G (p.Ile93Val) rs578102641 0.00002
NM_001371596.2(MFSD8):c.400T>C (p.Tyr134His) rs776316095 0.00002
NM_001371596.2(MFSD8):c.931A>G (p.Ile311Val) rs753930474 0.00002
NM_001909.5(CTSD):c.*356C>G rs886048062 0.00002
NM_001909.5(CTSD):c.1076C>T (p.Ser359Leu) rs545364302 0.00002
NM_001909.5(CTSD):c.19C>G (p.Leu7Val) rs1470191996 0.00002
NM_001909.5(CTSD):c.215A>G (p.Lys72Arg) rs1307108340 0.00002
NM_001909.5(CTSD):c.527G>A (p.Arg176Lys) rs757688598 0.00002
NM_001909.5(CTSD):c.52G>A (p.Ala18Thr) rs796052403 0.00002
NM_001909.5(CTSD):c.622G>A (p.Val208Ile) rs778031733 0.00002
NM_001909.5(CTSD):c.68+6G>A rs1011130987 0.00002
NM_002087.4(GRN):c.103G>A (p.Gly35Arg) rs533451404 0.00002
NM_002087.4(GRN):c.1373C>T (p.Pro458Leu) rs63750537 0.00002
NM_002087.4(GRN):c.139-3T>C rs371119011 0.00002
NM_002087.4(GRN):c.1433G>A (p.Arg478His) rs140747584 0.00002
NM_002087.4(GRN):c.157C>G (p.Leu53Val) rs906652114 0.00002
NM_002087.4(GRN):c.1663C>T (p.Arg555Trp) rs768297331 0.00002
NM_002087.4(GRN):c.208G>A (p.Gly70Ser) rs772381732 0.00002
NM_002087.4(GRN):c.238A>T (p.Thr80Ser) rs1022228740 0.00002
NM_002087.4(GRN):c.325G>A (p.Gly109Arg) rs766292113 0.00002
NM_002087.4(GRN):c.421G>A (p.Val141Ile) rs63749853 0.00002
NM_002087.4(GRN):c.502G>A (p.Gly168Ser) rs753070659 0.00002
NM_002087.4(GRN):c.530G>A (p.Arg177His) rs753441122 0.00002
NM_002087.4(GRN):c.836-3C>T rs771907059 0.00002
NM_002087.4(GRN):c.989C>T (p.Thr330Met) rs376059429 0.00002
NM_003793.4(CTSF):c.587G>A (p.Arg196Gln) rs143814748 0.00002
NM_006493.4(CLN5):c.*1169T>C rs573398552 0.00002
NM_006493.4(CLN5):c.-84C>A rs558597827 0.00002
NM_006493.4(CLN5):c.106G>C (p.Ala36Pro) rs778982551 0.00002
NM_006493.4(CLN5):c.176G>A (p.Arg59His) rs753197537 0.00002
NM_006493.4(CLN5):c.339+5G>C rs202146713 0.00002
NM_006493.4(CLN5):c.339+6G>A rs1468101 0.00002
NM_006493.4(CLN5):c.526A>G (p.Lys176Glu) rs142870036 0.00002
NM_006493.4(CLN5):c.80G>A (p.Cys27Tyr) rs796052344 0.00002
NM_006493.4(CLN5):c.892C>T (p.His298Tyr) rs557876713 0.00002
NM_006493.4(CLN5):c.947T>C (p.Ile316Thr) rs182060681 0.00002
NM_006493.4(CLN5):c.960G>C (p.Gln320His) rs1455002686 0.00002
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634 0.00002
NM_017882.3(CLN6):c.343G>A (p.Val115Met) rs762232673 0.00002
NM_017882.3(CLN6):c.43G>T (p.Gly15Cys) rs1057524348 0.00002
NM_017882.3(CLN6):c.482C>T (p.Thr161Met) rs757734645 0.00002
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821 0.00002
NM_017882.3(CLN6):c.666-3C>T rs761161043 0.00002
NM_017882.3(CLN6):c.929G>A (p.Arg310Gln) rs769900670 0.00002
NM_017882.3(CLN6):c.94G>C (p.Val32Leu) rs369041224 0.00002
NM_018941.4(CLN8):c.161G>A (p.Arg54His) rs372268977 0.00002
NM_018941.4(CLN8):c.266C>G (p.Pro89Arg) rs919541697 0.00002
NM_018941.4(CLN8):c.284A>G (p.Lys95Arg) rs1432496931 0.00002
NM_018941.4(CLN8):c.289C>T (p.Arg97Cys) rs1285178214 0.00002
NM_018941.4(CLN8):c.411C>G (p.Ile137Met) rs147224140 0.00002
NM_018941.4(CLN8):c.598A>G (p.Met200Val) rs749595247 0.00002
NM_018941.4(CLN8):c.823G>C (p.Glu275Gln) rs749774943 0.00002
NM_018941.4(CLN8):c.837G>T (p.Gln279His) rs774442159 0.00002
NM_022089.4(ATP13A2):c.1099G>A (p.Glu367Lys) rs770576740 0.00002
NM_022089.4(ATP13A2):c.1112G>A (p.Arg371Gln) rs779347442 0.00002
NM_022089.4(ATP13A2):c.1189C>T (p.Arg397Cys) rs748309608 0.00002
NM_022089.4(ATP13A2):c.1307-14C>T rs370771306 0.00002
NM_022089.4(ATP13A2):c.1321A>T (p.Ile441Phe) rs772446950 0.00002
NM_022089.4(ATP13A2):c.1399G>A (p.Val467Met) rs760443267 0.00002
NM_022089.4(ATP13A2):c.1442C>T (p.Thr481Met) rs752000462 0.00002
NM_022089.4(ATP13A2):c.1633C>T (p.Arg545Cys) rs750152147 0.00002
NM_022089.4(ATP13A2):c.1667C>T (p.Ala556Val) rs760021599 0.00002
NM_022089.4(ATP13A2):c.1831C>A (p.Gln611Lys) rs770682887 0.00002
NM_022089.4(ATP13A2):c.1847A>C (p.Glu616Ala) rs558165485 0.00002
NM_022089.4(ATP13A2):c.1880G>A (p.Arg627His) rs756516383 0.00002
NM_022089.4(ATP13A2):c.1896G>A (p.Ser632=) rs575694238 0.00002
NM_022089.4(ATP13A2):c.196C>T (p.Arg66Cys) rs768327980 0.00002
NM_022089.4(ATP13A2):c.220C>T (p.Arg74Trp) rs753087058 0.00002
NM_022089.4(ATP13A2):c.221G>A (p.Arg74Gln) rs767725094 0.00002
NM_022089.4(ATP13A2):c.2251+6A>C rs773458244 0.00002
NM_022089.4(ATP13A2):c.2285G>A (p.Arg762Gln) rs766899425 0.00002
NM_022089.4(ATP13A2):c.2368G>A (p.Glu790Lys) rs754208001 0.00002
NM_022089.4(ATP13A2):c.2797G>A (p.Val933Ile) rs370356637 0.00002
NM_022089.4(ATP13A2):c.3001G>A (p.Val1001Met) rs749677780 0.00002
NM_022089.4(ATP13A2):c.3218G>A (p.Arg1073Gln) rs747907490 0.00002
NM_022089.4(ATP13A2):c.3458G>A (p.Arg1153Gln) rs772666861 0.00002
NM_022089.4(ATP13A2):c.395C>T (p.Ala132Val) rs764125787 0.00002
NM_022089.4(ATP13A2):c.490C>T (p.Arg164Trp) rs199624796 0.00002
NM_022089.4(ATP13A2):c.518A>G (p.Tyr173Cys) rs376963085 0.00002
NM_022089.4(ATP13A2):c.595C>T (p.Arg199Cys) rs754074592 0.00002
NM_022089.4(ATP13A2):c.656A>G (p.Asn219Ser) rs776406555 0.00002
NM_022089.4(ATP13A2):c.878T>C (p.Met293Thr) rs772414750 0.00002
NM_022089.4(ATP13A2):c.889G>A (p.Val297Met) rs771174890 0.00002
NM_025219.3(DNAJC5):c.*1915C>T rs1044082802 0.00002
NM_025219.3(DNAJC5):c.*2633G>A rs533825911 0.00002
NM_025219.3(DNAJC5):c.*286G>A rs886056940 0.00002
NM_025219.3(DNAJC5):c.*3870G>A rs886056953 0.00002
NM_025219.3(DNAJC5):c.*4317G>A rs911426732 0.00002
NM_025219.3(DNAJC5):c.-11-2A>G rs1370715503 0.00002
NM_025219.3(DNAJC5):c.162G>A (p.Ala54=) rs781164296 0.00002
NM_025219.3(DNAJC5):c.229G>A (p.Asp77Asn) rs762638579 0.00002
NM_025219.3(DNAJC5):c.437C>T (p.Thr146Met) rs779453928 0.00002
NM_025219.3(DNAJC5):c.444C>T (p.Phe148=) rs772254851 0.00002
NM_153033.5(KCTD7):c.*1624T>C rs765576236 0.00002
NM_153033.5(KCTD7):c.*2190C>T rs1435600618 0.00002
NM_153033.5(KCTD7):c.*2806G>A rs886062425 0.00002
NM_153033.5(KCTD7):c.251G>A (p.Arg84Gln) rs200575329 0.00002
NM_153033.5(KCTD7):c.369A>C (p.Arg123=) rs753658170 0.00002
NM_153033.5(KCTD7):c.398C>T (p.Ala133Val) rs372103637 0.00002
NM_153033.5(KCTD7):c.458G>A (p.Arg153His) rs765235486 0.00002
NM_153033.5(KCTD7):c.614C>T (p.Pro205Leu) rs151338966 0.00002
NM_153033.5(KCTD7):c.749C>T (p.Thr250Met) rs760837610 0.00002
NC_000013.11:g.76992031C>A rs1168645936 0.00001
NM_000310.4(PPT1):c.*1062G>A rs564499024 0.00001
NM_000310.4(PPT1):c.*353C>T rs1016587844 0.00001
NM_000310.4(PPT1):c.*529_*530insATCG rs1475500814 0.00001
NM_000310.4(PPT1):c.*90C>G rs746784832 0.00001
NM_000310.4(PPT1):c.10C>T (p.Pro4Ser) rs539194943 0.00001
NM_000310.4(PPT1):c.124+6T>C rs759641557 0.00001
NM_000310.4(PPT1):c.12C>T (p.Pro4=) rs140289866 0.00001
NM_000310.4(PPT1):c.199G>A (p.Val67Ile) rs149945902 0.00001
NM_000310.4(PPT1):c.238G>A (p.Val80Met) rs370396045 0.00001
NM_000310.4(PPT1):c.272A>C (p.Gln91Pro) rs386833639 0.00001
NM_000310.4(PPT1):c.283G>A (p.Val95Met) rs932228782 0.00001
NM_000310.4(PPT1):c.293C>A (p.Ala98Glu) rs768065632 0.00001
NM_000310.4(PPT1):c.334A>T (p.Met112Leu) rs760532726 0.00001
NM_000310.4(PPT1):c.367G>A (p.Ala123Thr) rs755565099 0.00001
NM_000310.4(PPT1):c.38C>G (p.Ala13Gly) rs1057515557 0.00001
NM_000310.4(PPT1):c.40C>T (p.Leu14Phe) rs550492793 0.00001
NM_000310.4(PPT1):c.433G>C (p.Gly145Arg) rs369186379 0.00001
NM_000310.4(PPT1):c.440T>C (p.Phe147Ser) rs760784114 0.00001
NM_000310.4(PPT1):c.445C>A (p.Leu149Ile) rs775899980 0.00001
NM_000310.4(PPT1):c.452G>A (p.Arg151Gln) rs779343776 0.00001
NM_000310.4(PPT1):c.472C>T (p.His158Tyr) rs754525635 0.00001
NM_000310.4(PPT1):c.49T>G (p.Trp17Gly) rs775853398 0.00001
NM_000310.4(PPT1):c.512C>T (p.Ala171Val) rs761687224 0.00001
NM_000310.4(PPT1):c.536+5G>T rs1208757133 0.00001
NM_000310.4(PPT1):c.536G>A (p.Arg179His) rs370069880 0.00001
NM_000310.4(PPT1):c.626G>A (p.Arg209Gln) rs201265025 0.00001
NM_000310.4(PPT1):c.647A>G (p.Lys216Arg) rs1296750828 0.00001
NM_000310.4(PPT1):c.695A>G (p.Asn232Ser) rs768490419 0.00001
NM_000310.4(PPT1):c.71T>C (p.Leu24Pro) rs746667989 0.00001
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu) rs746043871 0.00001
NM_000310.4(PPT1):c.762A>C (p.Glu254Asp) rs146002450 0.00001
NM_000310.4(PPT1):c.769C>A (p.Pro257Thr) rs201313087 0.00001
NM_000310.4(PPT1):c.798+3A>G rs1454468517 0.00001
NM_000310.4(PPT1):c.817G>A (p.Glu273Lys) rs1193191643 0.00001
NM_000310.4(PPT1):c.830C>T (p.Ala277Val) rs1447656117 0.00001
NM_000310.4(PPT1):c.86C>A (p.Pro29Gln) rs778256566 0.00001
NM_000310.4(PPT1):c.877T>C (p.Ser293Pro) rs1304668396 0.00001
NM_000310.4(PPT1):c.89C>T (p.Pro30Leu) rs757268571 0.00001
NM_000310.4(PPT1):c.908C>T (p.Pro303Leu) rs1270614783 0.00001
NM_000391.4(TPP1):c.*1634T>C rs886048534 0.00001
NM_000391.4(TPP1):c.*171T>C rs953806091 0.00001
NM_000391.4(TPP1):c.*716C>A rs957511928 0.00001
NM_000391.4(TPP1):c.*937C>T rs1339024138 0.00001
NM_000391.4(TPP1):c.-21G>A rs760667554 0.00001
NM_000391.4(TPP1):c.1034T>C (p.Met345Thr) rs764077257 0.00001
NM_000391.4(TPP1):c.1049G>A (p.Arg350Gln) rs199866669 0.00001
NM_000391.4(TPP1):c.1069G>C (p.Ala357Pro) rs1266615275 0.00001
NM_000391.4(TPP1):c.1123C>T (p.Arg375Cys) rs368914445 0.00001
NM_000391.4(TPP1):c.1138G>A (p.Ala380Thr) rs190013230 0.00001
NM_000391.4(TPP1):c.118C>T (p.Arg40Cys) rs794727482 0.00001
NM_000391.4(TPP1):c.1192C>T (p.Leu398Phe) rs149319579 0.00001
NM_000391.4(TPP1):c.119G>A (p.Arg40His) rs549309216 0.00001
NM_000391.4(TPP1):c.1266+4C>T rs777551142 0.00001
NM_000391.4(TPP1):c.1289T>A (p.Leu430Gln) rs780656523 0.00001
NM_000391.4(TPP1):c.1339C>T (p.Arg447Cys) rs1035033641 0.00001
NM_000391.4(TPP1):c.1373G>A (p.Gly458Asp) rs1855560526 0.00001
NM_000391.4(TPP1):c.1381G>T (p.Val461Leu) rs1300168808 0.00001
NM_000391.4(TPP1):c.1435C>G (p.Pro479Ala) rs756530648 0.00001
NM_000391.4(TPP1):c.1443T>G (p.Phe481Leu) rs1245220130 0.00001
NM_000391.4(TPP1):c.1543C>T (p.Leu515Phe) rs748345018 0.00001
NM_000391.4(TPP1):c.1552-14A>C rs1006965532 0.00001
NM_000391.4(TPP1):c.1582G>A (p.Asp528Asn) rs375364589 0.00001
NM_000391.4(TPP1):c.1613C>G (p.Ser538Cys) rs755878872 0.00001
NM_000391.4(TPP1):c.163C>G (p.Gln55Glu) rs1315730321 0.00001
NM_000391.4(TPP1):c.1642T>C (p.Trp548Arg) rs1348967263 0.00001
NM_000391.4(TPP1):c.197A>T (p.Gln66Leu) rs751088292 0.00001
NM_000391.4(TPP1):c.202G>A (p.Val68Met) rs776937435 0.00001
NM_000391.4(TPP1):c.209A>G (p.Asp70Gly) rs775780584 0.00001
NM_000391.4(TPP1):c.230-8C>A rs537703785 0.00001
NM_000391.4(TPP1):c.284C>G (p.Thr95Ser) rs535584300 0.00001
NM_000391.4(TPP1):c.294G>A (p.Thr98=) rs141417655 0.00001
NM_000391.4(TPP1):c.37C>T (p.Leu13Phe) rs796053445 0.00001
NM_000391.4(TPP1):c.473A>C (p.Gln158Pro) rs757507462 0.00001
NM_000391.4(TPP1):c.508+10A>G rs765877652 0.00001
NM_000391.4(TPP1):c.509-6C>G rs778046473 0.00001
NM_000391.4(TPP1):c.511G>C (p.Gly171Arg) rs994636765 0.00001
NM_000391.4(TPP1):c.51C>G (p.Gly17=) rs755019471 0.00001
NM_000391.4(TPP1):c.524G>A (p.Arg175His) rs764922748 0.00001
NM_000391.4(TPP1):c.593T>C (p.Leu198Pro) rs1481131397 0.00001
NM_000391.4(TPP1):c.687+6C>T rs768924191 0.00001
NM_000391.4(TPP1):c.734G>A (p.Arg245His) rs754161261 0.00001
NM_000391.4(TPP1):c.775C>T (p.Arg259Cys) rs748038934 0.00001
NM_000391.4(TPP1):c.802C>T (p.Arg268Trp) rs778410642 0.00001
NM_000391.4(TPP1):c.812T>C (p.Ile271Thr) rs766541487 0.00001
NM_000391.4(TPP1):c.959T>G (p.Val320Gly) rs1314521780 0.00001
NM_000391.4(TPP1):c.968T>C (p.Val323Ala) rs770155767 0.00001
NM_000391.4(TPP1):c.993C>T (p.Ser331=) rs1855585414 0.00001
NM_001042432.1(CLN3):c.-364C>T rs1422231105 0.00001
NM_001042432.2(CLN3):c.*205G>A rs757923800 0.00001
NM_001042432.2(CLN3):c.*58A>C rs142958639 0.00001
NM_001042432.2(CLN3):c.1013G>A (p.Arg338His) rs557870972 0.00001
NM_001042432.2(CLN3):c.1017C>G (p.Cys339Trp) rs768479701 0.00001
NM_001042432.2(CLN3):c.1021C>T (p.Arg341Cys) rs775195638 0.00001
NM_001042432.2(CLN3):c.1033A>T (p.Thr345Ser) rs150986176 0.00001
NM_001042432.2(CLN3):c.1132A>G (p.Ile378Val) rs147658282 0.00001
NM_001042432.2(CLN3):c.1159G>A (p.Ala387Thr) rs768614719 0.00001
NM_001042432.2(CLN3):c.1192C>G (p.Leu398Val) rs751114018 0.00001
NM_001042432.2(CLN3):c.1214G>A (p.Arg405Gln) rs747861558 0.00001
NM_001042432.2(CLN3):c.1225A>G (p.Met409Val) rs776443981 0.00001
NM_001042432.2(CLN3):c.1234A>G (p.Thr412Ala) rs1064795206 0.00001
NM_001042432.2(CLN3):c.1249A>G (p.Thr417Ala) rs570472210 0.00001
NM_001042432.2(CLN3):c.125+6T>C rs745440092 0.00001
NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu) rs796052338 0.00001
NM_001042432.2(CLN3):c.1268C>T (p.Ser423Leu) rs386833706 0.00001
NM_001042432.2(CLN3):c.146A>G (p.Asn49Ser) rs1474384057 0.00001
NM_001042432.2(CLN3):c.152C>T (p.Ser51Phe) rs780151271 0.00001
NM_001042432.2(CLN3):c.181G>A (p.Asp61Asn) rs772851701 0.00001
NM_001042432.2(CLN3):c.196A>G (p.Lys66Glu) rs963189449 0.00001
NM_001042432.2(CLN3):c.209G>A (p.Gly70Glu) rs747526330 0.00001
NM_001042432.2(CLN3):c.223-3T>C rs776314679 0.00001
NM_001042432.2(CLN3):c.253A>C (p.Asn85His) rs996285915 0.00001
NM_001042432.2(CLN3):c.266G>A (p.Arg89Gln) rs766287694 0.00001
NM_001042432.2(CLN3):c.277A>G (p.Asn93Asp) rs761369095 0.00001
NM_001042432.2(CLN3):c.294+5G>A rs780921389 0.00001
NM_001042432.2(CLN3):c.295-3C>T rs767755377 0.00001
NM_001042432.2(CLN3):c.298G>C (p.Val100Leu) rs1478662819 0.00001
NM_001042432.2(CLN3):c.308C>T (p.Ala103Val) rs760039703 0.00001
NM_001042432.2(CLN3):c.319C>T (p.Pro107Ser) rs149095062 0.00001
NM_001042432.2(CLN3):c.327C>T (p.Leu109=) rs748293490 0.00001
NM_001042432.2(CLN3):c.328G>A (p.Val110Ile) rs781534624 0.00001
NM_001042432.2(CLN3):c.331A>G (p.Ile111Val) rs1331033517 0.00001
NM_001042432.2(CLN3):c.353G>A (p.Gly118Asp) rs753305901 0.00001
NM_001042432.2(CLN3):c.379C>T (p.Arg127Trp) rs201168980 0.00001
NM_001042432.2(CLN3):c.397A>G (p.Ile133Val) rs1295659689 0.00001
NM_001042432.2(CLN3):c.436C>T (p.His146Tyr) rs371590088 0.00001
NM_001042432.2(CLN3):c.437A>G (p.His146Arg) rs1197989757 0.00001
NM_001042432.2(CLN3):c.464T>G (p.Val155Gly) rs779304920 0.00001
NM_001042432.2(CLN3):c.47-11C>A rs561083322 0.00001
NM_001042432.2(CLN3):c.47-1G>A rs1555469477 0.00001
NM_001042432.2(CLN3):c.538G>A (p.Val180Met) rs202215629 0.00001
NM_001042432.2(CLN3):c.634A>G (p.Thr212Ala) rs1335425316 0.00001
NM_001042432.2(CLN3):c.647T>A (p.Met216Lys) rs773602052 0.00001
NM_001042432.2(CLN3):c.665T>A (p.Leu222Gln) rs781613318 0.00001
NM_001042432.2(CLN3):c.67C>T (p.Pro23Ser) rs757558651 0.00001
NM_001042432.2(CLN3):c.740G>A (p.Ser247Asn) rs1295758958 0.00001
NM_001042432.2(CLN3):c.742G>A (p.Ala248Thr) rs750008067 0.00001
NM_001042432.2(CLN3):c.752A>C (p.Gln251Pro) rs776890506 0.00001
NM_001042432.2(CLN3):c.757C>G (p.Leu253Val) rs776122422 0.00001
NM_001042432.2(CLN3):c.761T>C (p.Ile254Thr) rs745948575 0.00001
NM_001042432.2(CLN3):c.769G>A (p.Glu257Lys) rs771303379 0.00001
NM_001042432.2(CLN3):c.773C>T (p.Ala258Val) rs780823167 0.00001
NM_001042432.2(CLN3):c.782C>T (p.Ser261Leu) rs199627744 0.00001
NM_001042432.2(CLN3):c.791-7C>A rs942972881 0.00001
NM_001042432.2(CLN3):c.7G>C (p.Gly3Arg) rs1398814860 0.00001
NM_001042432.2(CLN3):c.837+5G>A rs756848924 0.00001
NM_001042432.2(CLN3):c.850T>C (p.Tyr284His) rs201090501 0.00001
NM_001042432.2(CLN3):c.860C>T (p.Pro287Leu) rs1262182257 0.00001
NM_001042432.2(CLN3):c.871G>C (p.Val291Leu) rs1218676230 0.00001
NM_001042432.2(CLN3):c.875A>G (p.Tyr292Cys) rs755402909 0.00001
NM_001042432.2(CLN3):c.89A>G (p.His30Arg) rs1399199073 0.00001
NM_001042432.2(CLN3):c.8G>A (p.Gly3Asp) rs756062000 0.00001
NM_001042432.2(CLN3):c.941G>A (p.Ser314Asn) rs769358990 0.00001
NM_001042432.2(CLN3):c.958C>T (p.Arg320Cys) rs768466445 0.00001
NM_001042432.2(CLN3):c.962+3A>T rs796052336 0.00001
NM_001371596.2(MFSD8):c.*1471T>C rs886059066 0.00001
NM_001371596.2(MFSD8):c.*2146A>G rs750676275 0.00001
NM_001371596.2(MFSD8):c.*2214A>G rs886059065 0.00001
NM_001371596.2(MFSD8):c.*2270G>C rs886059064 0.00001
NM_001371596.2(MFSD8):c.*250G>A rs980825570 0.00001
NM_001371596.2(MFSD8):c.*2592A>G rs924357088 0.00001
NM_001371596.2(MFSD8):c.*2683C>T rs886059063 0.00001
NM_001371596.2(MFSD8):c.*369G>A rs534031511 0.00001
NM_001371596.2(MFSD8):c.1010G>A (p.Arg337His) rs200386040 0.00001
NM_001371596.2(MFSD8):c.1015A>G (p.Ile339Val) rs1280781007 0.00001
NM_001371596.2(MFSD8):c.1036G>A (p.Val346Ile) rs746209973 0.00001
NM_001371596.2(MFSD8):c.1040T>C (p.Val347Ala) rs1331862351 0.00001
NM_001371596.2(MFSD8):c.104G>A (p.Arg35Gln) rs146596875 0.00001
NM_001371596.2(MFSD8):c.1093C>T (p.Gln365Ter) rs904329013 0.00001
NM_001371596.2(MFSD8):c.1116T>A (p.Asn372Lys) rs758114648 0.00001
NM_001371596.2(MFSD8):c.116T>A (p.Ile39Asn) rs140349255 0.00001
NM_001371596.2(MFSD8):c.1228T>C (p.Tyr410His) rs777361767 0.00001
NM_001371596.2(MFSD8):c.1258C>T (p.Leu420Phe) rs1398267947 0.00001
NM_001371596.2(MFSD8):c.1262C>T (p.Thr421Ile) rs765587961 0.00001
NM_001371596.2(MFSD8):c.1265C>T (p.Ser422Leu) rs1394582555 0.00001
NM_001371596.2(MFSD8):c.1270G>A (p.Val424Met) rs910297451 0.00001
NM_001371596.2(MFSD8):c.1273C>G (p.Leu425Val) rs1334064077 0.00001
NM_001371596.2(MFSD8):c.1280G>A (p.Gly427Glu) rs760640742 0.00001
NM_001371596.2(MFSD8):c.128A>G (p.Tyr43Cys) rs1421635169 0.00001
NM_001371596.2(MFSD8):c.1307T>C (p.Met436Thr) rs1405931975 0.00001
NM_001371596.2(MFSD8):c.133A>T (p.Thr45Ser) rs1743087138 0.00001
NM_001371596.2(MFSD8):c.1346C>T (p.Pro449Leu) rs780779080 0.00001
NM_001371596.2(MFSD8):c.1351-1G>A rs565253666 0.00001
NM_001371596.2(MFSD8):c.136A>G (p.Met46Val) rs1427310721 0.00001
NM_001371596.2(MFSD8):c.1391C>T (p.Ala464Val) rs758095101 0.00001
NM_001371596.2(MFSD8):c.1394G>A (p.Arg465Gln) rs1275962600 0.00001
NM_001371596.2(MFSD8):c.1448G>A (p.Trp483Ter) rs1216600395 0.00001
NM_001371596.2(MFSD8):c.1481T>C (p.Leu494Pro) rs1217401163 0.00001
NM_001371596.2(MFSD8):c.151G>T (p.Val51Leu) rs1408300356 0.00001
NM_001371596.2(MFSD8):c.1538A>G (p.Tyr513Cys) rs1385542021 0.00001
NM_001371596.2(MFSD8):c.1550A>G (p.Gln517Arg) rs1443934235 0.00001
NM_001371596.2(MFSD8):c.187T>C (p.Tyr63His) rs1227280018 0.00001
NM_001371596.2(MFSD8):c.218C>T (p.Thr73Ile) rs377555060 0.00001
NM_001371596.2(MFSD8):c.221G>C (p.Ser74Thr) rs759313071 0.00001
NM_001371596.2(MFSD8):c.22A>G (p.Ser8Gly) rs747446547 0.00001
NM_001371596.2(MFSD8):c.288A>G (p.Leu96=) rs1008821019 0.00001
NM_001371596.2(MFSD8):c.305C>T (p.Pro102Leu) rs1458806628 0.00001
NM_001371596.2(MFSD8):c.309A>T (p.Arg103Ser) rs148916499 0.00001
NM_001371596.2(MFSD8):c.316C>T (p.Pro106Ser) rs757793193 0.00001
NM_001371596.2(MFSD8):c.350C>G (p.Ala117Gly) rs759795397 0.00001
NM_001371596.2(MFSD8):c.35C>T (p.Pro12Leu) rs749496400 0.00001
NM_001371596.2(MFSD8):c.37C>A (p.Leu13Ile) rs150892838 0.00001
NM_001371596.2(MFSD8):c.37C>G (p.Leu13Val) rs150892838 0.00001
NM_001371596.2(MFSD8):c.401A>G (p.Tyr134Cys) rs1242219330 0.00001
NM_001371596.2(MFSD8):c.403A>G (p.Met135Val) rs768398882 0.00001
NM_001371596.2(MFSD8):c.416G>A (p.Arg139His) rs749704755 0.00001
NM_001371596.2(MFSD8):c.421T>C (p.Leu141=) rs778330834 0.00001
NM_001371596.2(MFSD8):c.431T>C (p.Ile144Thr) rs1227703492 0.00001
NM_001371596.2(MFSD8):c.436G>A (p.Ala146Thr) rs755152088 0.00001
NM_001371596.2(MFSD8):c.479C>T (p.Thr160Ile) rs1162750836 0.00001
NM_001371596.2(MFSD8):c.566G>A (p.Cys189Tyr) rs1355954321 0.00001
NM_001371596.2(MFSD8):c.596C>T (p.Thr199Ile) rs1175598258 0.00001
NM_001371596.2(MFSD8):c.604G>A (p.Val202Met) rs757623473 0.00001
NM_001371596.2(MFSD8):c.632C>T (p.Thr211Ile) rs925670950 0.00001
NM_001371596.2(MFSD8):c.63A>C (p.Arg21Ser) rs201926015 0.00001
NM_001371596.2(MFSD8):c.699-5T>G rs751010275 0.00001
NM_001371596.2(MFSD8):c.706C>T (p.Arg236Cys) rs758002981 0.00001
NM_001371596.2(MFSD8):c.769G>A (p.Ala257Thr) rs1255391064 0.00001
NM_001371596.2(MFSD8):c.770C>T (p.Ala257Val) rs1300137848 0.00001
NM_001371596.2(MFSD8):c.778C>T (p.Pro260Ser) rs1174831833 0.00001
NM_001371596.2(MFSD8):c.787A>G (p.Asn263Asp) rs374234685 0.00001
NM_001371596.2(MFSD8):c.832G>A (p.Val278Met) rs796052743 0.00001
NM_001371596.2(MFSD8):c.838C>G (p.Leu280Val) rs749001842 0.00001
NM_001371596.2(MFSD8):c.863+4A>G rs752035164 0.00001
NM_001371596.2(MFSD8):c.863C>T (p.Thr288Ile) rs755384900 0.00001
NM_001371596.2(MFSD8):c.91C>G (p.His31Asp) rs1296514095 0.00001
NM_001371596.2(MFSD8):c.999G>C (p.Lys333Asn) rs1057520312 0.00001
NM_001909.5(CTSD):c.*200C>G rs1176741600 0.00001
NM_001909.5(CTSD):c.*330G>T rs955942954 0.00001
NM_001909.5(CTSD):c.-3G>T rs541792699 0.00001
NM_001909.5(CTSD):c.-47A>G rs886048067 0.00001
NM_001909.5(CTSD):c.101G>A (p.Arg34Gln) rs1240316419 0.00001
NM_001909.5(CTSD):c.1028G>A (p.Gly343Glu) rs796052406 0.00001
NM_001909.5(CTSD):c.1066C>T (p.Leu356Phe) rs775579878 0.00001
NM_001909.5(CTSD):c.1069A>G (p.Lys357Glu) rs765270800 0.00001
NM_001909.5(CTSD):c.1150A>G (p.Ile384Val) rs767863175 0.00001
NM_001909.5(CTSD):c.1159G>A (p.Asp387Asn) rs764522039 0.00001
NM_001909.5(CTSD):c.1222G>A (p.Glu408Lys) rs554062876 0.00001
NM_001909.5(CTSD):c.1231C>T (p.Arg411Cys) rs766987476 0.00001
NM_001909.5(CTSD):c.1232G>A (p.Arg411His) rs200303993 0.00001
NM_001909.5(CTSD):c.127G>C (p.Val43Leu) rs1252146408 0.00001
NM_001909.5(CTSD):c.135C>G (p.Asp45Glu) rs573939509 0.00001
NM_001909.5(CTSD):c.190G>A (p.Glu64Lys) rs539823013 0.00001
NM_001909.5(CTSD):c.199A>C (p.Ile67Leu) rs1335299144 0.00001
NM_001909.5(CTSD):c.223A>G (p.Met75Val) rs144192783 0.00001
NM_001909.5(CTSD):c.228C>T (p.Asp76=) rs587780914 0.00001
NM_001909.5(CTSD):c.241G>A (p.Gly81Arg) rs199551387 0.00001
NM_001909.5(CTSD):c.260C>T (p.Thr87Met) rs770248571 0.00001
NM_001909.5(CTSD):c.289G>A (p.Asp97Asn) rs754680487 0.00001
NM_001909.5(CTSD):c.301T>C (p.Ser101Pro) rs1049074086 0.00001
NM_001909.5(CTSD):c.353-7G>A rs1438596750 0.00001
NM_001909.5(CTSD):c.371A>G (p.Asn124Ser) rs375052866 0.00001
NM_001909.5(CTSD):c.380A>T (p.Lys127Met) rs1438409242 0.00001
NM_001909.5(CTSD):c.423C>G (p.His141Gln) rs375323994 0.00001
NM_001909.5(CTSD):c.471G>A (p.Ser157=) rs760318745 0.00001
NM_001909.5(CTSD):c.488C>T (p.Ala163Val) rs772976217 0.00001
NM_001909.5(CTSD):c.491C>T (p.Ser164Leu) rs1845824897 0.00001
NM_001909.5(CTSD):c.518A>G (p.Lys173Arg) rs746140722 0.00001
NM_001909.5(CTSD):c.631G>A (p.Val211Met) rs779469223 0.00001
NM_001909.5(CTSD):c.640G>A (p.Val214Ile) rs756998360 0.00001
NM_001909.5(CTSD):c.716C>T (p.Ala239Val) rs759564989 0.00001
NM_001909.5(CTSD):c.73C>T (p.Pro25Ser) rs769626991 0.00001
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn) rs763407972 0.00001
NM_001909.5(CTSD):c.769G>A (p.Gly257Ser) rs746312808 0.00001
NM_001909.5(CTSD):c.796C>T (p.Arg266Cys) rs373621431 0.00001
NM_001909.5(CTSD):c.829G>A (p.Val277Met) rs372319807 0.00001
NM_001909.5(CTSD):c.898C>T (p.Leu300Phe) rs1256954867 0.00001
NM_001909.5(CTSD):c.89C>T (p.Thr30Met) rs747274524 0.00001
NM_001909.5(CTSD):c.946G>A (p.Gly316Arg) rs764766572 0.00001
NM_001909.5(CTSD):c.956C>T (p.Pro319Leu) rs373170074 0.00001
NM_001909.5(CTSD):c.972+6C>T rs765320531 0.00001
NM_001909.5(CTSD):c.978G>A (p.Met326Ile) rs370282882 0.00001
NM_001909.5(CTSD):c.982C>G (p.Pro328Ala) rs796052397 0.00001
NM_002087.4(GRN):c.100C>T (p.Pro34Ser) rs748147151 0.00001
NM_002087.4(GRN):c.1019A>T (p.His340Leu) rs775196555 0.00001
NM_002087.4(GRN):c.1080G>C (p.Leu360Phe) rs1480952239 0.00001
NM_002087.4(GRN):c.1138C>G (p.Gln380Glu) rs748829798 0.00001
NM_002087.4(GRN):c.1197C>A (p.Asp399Glu) rs956013468 0.00001
NM_002087.4(GRN):c.1241G>T (p.Gly414Val) rs63750920 0.00001
NM_002087.4(GRN):c.1243C>G (p.Gln415Glu) rs775888774 0.00001
NM_002087.4(GRN):c.1244A>T (p.Gln415Leu) rs749595402 0.00001
NM_002087.4(GRN):c.1288C>G (p.Pro430Ala) rs200645022 0.00001
NM_002087.4(GRN):c.1352C>T (p.Pro451Leu) rs752428000 0.00001
NM_002087.4(GRN):c.1357G>A (p.Gly453Arg) rs751072702 0.00001
NM_002087.4(GRN):c.1409C>T (p.Pro470Leu) rs63750007 0.00001
NM_002087.4(GRN):c.1432C>T (p.Arg478Cys) rs781387612 0.00001
NM_002087.4(GRN):c.1448C>T (p.Pro483Leu) rs774128685 0.00001
NM_002087.4(GRN):c.1460C>T (p.Thr487Ile) rs772784579 0.00001
NM_002087.4(GRN):c.1486G>A (p.Glu496Lys) rs764615963 0.00001
NM_002087.4(GRN):c.1604G>A (p.Arg535Gln) rs753857985 0.00001
NM_002087.4(GRN):c.1735C>T (p.Arg579Cys) rs748764855 0.00001
NM_002087.4(GRN):c.1736G>A (p.Arg579His) rs373138049 0.00001
NM_002087.4(GRN):c.22G>A (p.Val8Met) rs774367010 0.00001
NM_002087.4(GRN):c.250T>C (p.Cys84Arg) rs1598362876 0.00001
NM_002087.4(GRN):c.254C>T (p.Pro85Leu) rs1275075189 0.00001
NM_002087.4(GRN):c.280G>A (p.Asp94Asn) rs375678079 0.00001
NM_002087.4(GRN):c.394G>A (p.Glu132Lys) rs770662203 0.00001
NM_002087.4(GRN):c.529C>T (p.Arg177Cys) rs751651838 0.00001
NM_002087.4(GRN):c.568A>C (p.Lys190Gln) rs768727709 0.00001
NM_002087.4(GRN):c.58T>C (p.Cys20Arg) rs542613543 0.00001
NM_002087.4(GRN):c.620T>C (p.Met207Thr) rs776198499 0.00001
NM_002087.4(GRN):c.62C>T (p.Pro21Leu) rs745947095 0.00001
NM_002087.4(GRN):c.892C>T (p.Arg298Cys) rs768033215 0.00001
NM_002087.4(GRN):c.902C>T (p.Ser301Leu) rs1026683055 0.00001
NM_003793.4(CTSF):c.1028C>T (p.Ser343Leu) rs200646712 0.00001
NM_003793.4(CTSF):c.722-3C>A rs1857927546 0.00001
NM_006493.4(CLN5):c.*1490A>G rs771432165 0.00001
NM_006493.4(CLN5):c.*177A>C rs568174799 0.00001
NM_006493.4(CLN5):c.*609A>G rs1307852062 0.00001
NM_006493.4(CLN5):c.*614C>T rs1415756616 0.00001
NM_006493.4(CLN5):c.*833C>T rs926933589 0.00001
NM_006493.4(CLN5):c.-113G>T rs1465531119 0.00001
NM_006493.4(CLN5):c.-11G>C rs774598730 0.00001
NM_006493.4(CLN5):c.-74T>C rs1182554801 0.00001
NM_006493.4(CLN5):c.-86C>T rs988786332 0.00001
NM_006493.4(CLN5):c.-8G>A rs761576461 0.00001
NM_006493.4(CLN5):c.136G>T (p.Gly46Cys) rs775102823 0.00001
NM_006493.4(CLN5):c.13G>A (p.Val5Ile) rs1064795659 0.00001
NM_006493.4(CLN5):c.148C>T (p.Arg50Trp) rs763892391 0.00001
NM_006493.4(CLN5):c.151C>A (p.Arg51Ser) rs374080049 0.00001
NM_006493.4(CLN5):c.17A>G (p.Asp6Gly) rs759063887 0.00001
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys) rs786205211 0.00001
NM_006493.4(CLN5):c.247A>G (p.Ile83Val) rs750283603 0.00001
NM_006493.4(CLN5):c.26A>G (p.Gln9Arg) rs1230755416 0.00001
NM_006493.4(CLN5):c.296C>T (p.Ala99Val) rs143759121 0.00001
NM_006493.4(CLN5):c.31G>T (p.Ala11Ser) rs563306322 0.00001
NM_006493.4(CLN5):c.323A>C (p.Asp108Ala) rs368672718 0.00001
NM_006493.4(CLN5):c.3G>A (p.Met1Ile) rs1464891081 0.00001
NM_006493.4(CLN5):c.430T>C (p.Cys144Arg) rs1593911055 0.00001
NM_006493.4(CLN5):c.467C>T (p.Pro156Leu) rs780802058 0.00001
NM_006493.4(CLN5):c.490G>T (p.Ala164Ser) rs748549252 0.00001
NM_006493.4(CLN5):c.505G>A (p.Gly169Arg) rs1420822940 0.00001
NM_006493.4(CLN5):c.565+6T>C rs758229107 0.00001
NM_006493.4(CLN5):c.61C>T (p.Arg21Trp) rs376454715 0.00001
NM_006493.4(CLN5):c.637A>C (p.Asn213His) rs140122775 0.00001
NM_006493.4(CLN5):c.639T>A (p.Asn213Lys) rs1312706135 0.00001
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn) rs28940280 0.00001
NM_006493.4(CLN5):c.692G>A (p.Cys231Tyr) rs200419110 0.00001
NM_006493.4(CLN5):c.755T>C (p.Ile252Thr) rs1439976492 0.00001
NM_006493.4(CLN5):c.764A>C (p.Asn255Thr) rs929479143 0.00001
NM_006493.4(CLN5):c.773G>A (p.Arg258Lys) rs376675270 0.00001
NM_006493.4(CLN5):c.784T>C (p.Tyr262His) rs1262072010 0.00001
NM_006493.4(CLN5):c.904A>G (p.Lys302Glu) rs1060502320 0.00001
NM_006493.4(CLN5):c.935T>C (p.Phe312Ser) rs201767993 0.00001
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys) rs148862100 0.00001
NM_017882.3(CLN6):c.*300C>T rs886051439 0.00001
NM_017882.3(CLN6):c.*446C>T rs1249079296 0.00001
NM_017882.3(CLN6):c.*532T>A rs886051437 0.00001
NM_017882.3(CLN6):c.*749T>C rs1189755650 0.00001
NM_017882.3(CLN6):c.-22C>A rs886051448 0.00001
NM_017882.3(CLN6):c.133C>T (p.Leu45Phe) rs964241858 0.00001
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys) rs1451777867 0.00001
NM_017882.3(CLN6):c.199C>G (p.Leu67Val) rs759935979 0.00001
NM_017882.3(CLN6):c.205T>C (p.Phe69Leu) rs1418418672 0.00001
NM_017882.3(CLN6):c.221T>G (p.Phe74Cys) rs199658226 0.00001
NM_017882.3(CLN6):c.255C>G (p.Phe85Leu) rs545955828 0.00001
NM_017882.3(CLN6):c.285T>A (p.Phe95Leu) rs796052350 0.00001
NM_017882.3(CLN6):c.296A>G (p.Lys99Arg) rs146782642 0.00001
NM_017882.3(CLN6):c.297+113G>C rs553192210 0.00001
NM_017882.3(CLN6):c.301A>G (p.Ile101Val) rs774238261 0.00001
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys) rs796052352 0.00001
NM_017882.3(CLN6):c.311C>A (p.Ser104Tyr) rs777921628 0.00001
NM_017882.3(CLN6):c.317G>A (p.Arg106His) rs781133812 0.00001
NM_017882.3(CLN6):c.322C>G (p.Leu108Val) rs796052353 0.00001
NM_017882.3(CLN6):c.331T>C (p.Ser111Pro) rs1217014085 0.00001
NM_017882.3(CLN6):c.340T>C (p.Tyr114His) rs1211135399 0.00001
NM_017882.3(CLN6):c.346A>G (p.Ser116Gly) rs2093206402 0.00001
NM_017882.3(CLN6):c.355A>G (p.Ile119Val) rs759241838 0.00001
NM_017882.3(CLN6):c.358T>A (p.Phe120Ile) rs1433821186 0.00001
NM_017882.3(CLN6):c.407G>A (p.Arg136His) rs769701646 0.00001
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys) rs750081097 0.00001
NM_017882.3(CLN6):c.547A>G (p.Ile183Val) rs766500060 0.00001
NM_017882.3(CLN6):c.581G>T (p.Ser194Ile) rs777142645 0.00001
NM_017882.3(CLN6):c.583G>A (p.Gly195Ser) rs747575187 0.00001
NM_017882.3(CLN6):c.593C>G (p.Thr198Ser) rs777459938 0.00001
NM_017882.3(CLN6):c.599C>G (p.Ser200Cys) rs796052357 0.00001
NM_017882.3(CLN6):c.61G>A (p.Gly21Ser) rs916017530 0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722 0.00001
NM_017882.3(CLN6):c.704T>A (p.Ile235Asn) rs1469917052 0.00001
NM_017882.3(CLN6):c.718G>A (p.Ala240Thr) rs779105796 0.00001
NM_017882.3(CLN6):c.748C>T (p.Arg250Cys) rs950362413 0.00001
NM_017882.3(CLN6):c.757C>G (p.Leu253Val) rs1274562752 0.00001
NM_017882.3(CLN6):c.794C>T (p.Ser265Phe) rs771007065 0.00001
NM_017882.3(CLN6):c.850C>T (p.Pro284Ser) rs369715206 0.00001
NM_017882.3(CLN6):c.886G>A (p.Val296Ile) rs781449103 0.00001
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg) rs750937323 0.00001
NM_018941.4(CLN8):c.106T>A (p.Leu36Met) rs1554448978 0.00001
NM_018941.4(CLN8):c.109G>A (p.Gly37Ser) rs770240445 0.00001
NM_018941.4(CLN8):c.117T>G (p.Phe39Leu) rs201670636 0.00001
NM_018941.4(CLN8):c.140C>T (p.Ser47Phe) rs765158624 0.00001
NM_018941.4(CLN8):c.160C>T (p.Arg54Cys) rs769069643 0.00001
NM_018941.4(CLN8):c.16G>T (p.Asp6Tyr) rs200999640 0.00001
NM_018941.4(CLN8):c.17A>G (p.Asp6Gly) rs536738656 0.00001
NM_018941.4(CLN8):c.256C>T (p.Leu86=) rs755248868 0.00001
NM_018941.4(CLN8):c.305G>T (p.Trp102Leu) rs796052365 0.00001
NM_018941.4(CLN8):c.323C>T (p.Thr108Met) rs143701028 0.00001
NM_018941.4(CLN8):c.335G>T (p.Gly112Val) rs1304439072 0.00001
NM_018941.4(CLN8):c.364C>T (p.His122Tyr) rs746051539 0.00001
NM_018941.4(CLN8):c.406G>T (p.Val136Phe) rs187297173 0.00001
NM_018941.4(CLN8):c.416A>G (p.His139Arg) rs1195769874 0.00001
NM_018941.4(CLN8):c.41T>C (p.Phe14Ser) rs957551479 0.00001
NM_018941.4(CLN8):c.488C>T (p.Thr163Met) rs781099399 0.00001
NM_018941.4(CLN8):c.570G>T (p.Trp190Cys) rs772518654 0.00001
NM_018941.4(CLN8):c.611G>A (p.Arg204His) rs386834134 0.00001
NM_018941.4(CLN8):c.614T>C (p.Met205Thr) rs763967636 0.00001
NM_018941.4(CLN8):c.680A>T (p.Tyr227Phe) rs368561820 0.00001
NM_018941.4(CLN8):c.716C>T (p.Ala239Val) rs913988013 0.00001
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys) rs587779411 0.00001
NM_018941.4(CLN8):c.832G>A (p.Gly278Arg) rs1358513612 0.00001
NM_018941.4(CLN8):c.845G>A (p.Arg282Gln) rs766172825 0.00001
NM_022089.4(ATP13A2):c.*182C>T rs970274162 0.00001
NM_022089.4(ATP13A2):c.-99G>C rs569658051 0.00001
NM_022089.4(ATP13A2):c.1004C>T (p.Ala335Val) rs756767909 0.00001
NM_022089.4(ATP13A2):c.1017G>C (p.Met339Ile) rs1345269003 0.00001
NM_022089.4(ATP13A2):c.1065G>A (p.Thr355=) rs750819290 0.00001
NM_022089.4(ATP13A2):c.1102A>G (p.Thr368Ala) rs1236275703 0.00001
NM_022089.4(ATP13A2):c.1103C>T (p.Thr368Ile) rs1033088325 0.00001
NM_022089.4(ATP13A2):c.1109G>A (p.Arg370Gln) rs369738172 0.00001
NM_022089.4(ATP13A2):c.1169A>C (p.His390Pro) rs376004873 0.00001
NM_022089.4(ATP13A2):c.1295T>C (p.Leu432Pro) rs778964823 0.00001
NM_022089.4(ATP13A2):c.1314C>A (p.Leu438=) rs764435162 0.00001
NM_022089.4(ATP13A2):c.1384C>G (p.Leu462Val) rs773341880 0.00001
NM_022089.4(ATP13A2):c.1405G>A (p.Val469Met) rs1326057817 0.00001
NM_022089.4(ATP13A2):c.1420C>G (p.Pro474Ala) rs530658980 0.00001
NM_022089.4(ATP13A2):c.1460G>A (p.Arg487Gln) rs560095049 0.00001
NM_022089.4(ATP13A2):c.1465C>T (p.Arg489Trp) rs753825215 0.00001
NM_022089.4(ATP13A2):c.146G>T (p.Gly49Val) rs372254666 0.00001
NM_022089.4(ATP13A2):c.1544C>T (p.Thr515Met) rs984178348 0.00001
NM_022089.4(ATP13A2):c.1631G>A (p.Arg544His) rs1050384310 0.00001
NM_022089.4(ATP13A2):c.1744G>A (p.Gly582Ser) rs886045581 0.00001
NM_022089.4(ATP13A2):c.1750-3C>T rs780246274 0.00001
NM_022089.4(ATP13A2):c.1774G>A (p.Asp592Asn) rs750921184 0.00001
NM_022089.4(ATP13A2):c.1787G>C (p.Gly596Ala) rs975811918 0.00001
NM_022089.4(ATP13A2):c.1856C>T (p.Pro619Leu) rs746563424 0.00001
NM_022089.4(ATP13A2):c.1864G>T (p.Val622Phe) rs779367060 0.00001
NM_022089.4(ATP13A2):c.1870G>A (p.Val624Ile) rs368423685 0.00001
NM_022089.4(ATP13A2):c.1876C>T (p.His626Tyr) rs778267471 0.00001
NM_022089.4(ATP13A2):c.1897G>T (p.Ala633Ser) rs766354139 0.00001
NM_022089.4(ATP13A2):c.1907G>A (p.Arg636His) rs769622260 0.00001
NM_022089.4(ATP13A2):c.1951G>A (p.Ala651Thr) rs778404620 0.00001
NM_022089.4(ATP13A2):c.1957G>A (p.Val653Ile) rs761490954 0.00001
NM_022089.4(ATP13A2):c.2015A>G (p.Asp672Gly) rs981910553 0.00001
NM_022089.4(ATP13A2):c.2158G>T (p.Gly720Trp) rs865939676 0.00001
NM_022089.4(ATP13A2):c.2252-11A>G rs775547036 0.00001
NM_022089.4(ATP13A2):c.226C>T (p.Arg76Trp) rs751715295 0.00001
NM_022089.4(ATP13A2):c.2270C>T (p.Ala757Val) rs1208175914 0.00001
NM_022089.4(ATP13A2):c.229C>T (p.Leu77Phe) rs763004392 0.00001
NM_022089.4(ATP13A2):c.2332G>A (p.Ala778Thr) rs748986186 0.00001
NM_022089.4(ATP13A2):c.2381T>C (p.Met794Thr) rs151222153 0.00001
NM_022089.4(ATP13A2):c.2422C>G (p.Gln808Glu) rs774997717 0.00001
NM_022089.4(ATP13A2):c.2440G>A (p.Val814Met) rs748454159 0.00001
NM_022089.4(ATP13A2):c.2456G>A (p.Arg819Gln) rs781298587 0.00001
NM_022089.4(ATP13A2):c.2479G>A (p.Gly827Arg) rs765064192 0.00001
NM_022089.4(ATP13A2):c.2525C>G (p.Pro842Arg) rs917176878 0.00001
NM_022089.4(ATP13A2):c.2591G>T (p.Cys864Phe) rs1281682323 0.00001
NM_022089.4(ATP13A2):c.2609+10C>T rs759204814 0.00001
NM_022089.4(ATP13A2):c.2635G>A (p.Gly879Ser) rs771014262 0.00001
NM_022089.4(ATP13A2):c.2770C>T (p.Arg924Cys) rs567866687 0.00001
NM_022089.4(ATP13A2):c.2859+5G>C rs1164759435 0.00001
NM_022089.4(ATP13A2):c.2867C>T (p.Thr956Ile) rs752784549 0.00001
NM_022089.4(ATP13A2):c.2905G>A (p.Val969Ile) rs769445714 0.00001
NM_022089.4(ATP13A2):c.2939G>A (p.Arg980His) rs150748722 0.00001
NM_022089.4(ATP13A2):c.2995G>A (p.Val999Met) rs764162255 0.00001
NM_022089.4(ATP13A2):c.3145G>A (p.Val1049Met) rs750963832 0.00001
NM_022089.4(ATP13A2):c.3164G>C (p.Ser1055Thr) rs1046254851 0.00001
NM_022089.4(ATP13A2):c.3175C>T (p.Leu1059Phe) rs764410859 0.00001
NM_022089.4(ATP13A2):c.3235+15G>A rs761031832 0.00001
NM_022089.4(ATP13A2):c.334A>G (p.Ile112Val) rs747340052 0.00001
NM_022089.4(ATP13A2):c.3356T>G (p.Leu1119Arg) rs375453342 0.00001
NM_022089.4(ATP13A2):c.340G>A (p.Glu114Lys) rs757224113 0.00001
NM_022089.4(ATP13A2):c.3434G>A (p.Cys1145Tyr) rs756071133 0.00001
NM_022089.4(ATP13A2):c.3440G>A (p.Arg1147His) rs971337693 0.00001
NM_022089.4(ATP13A2):c.3538A>T (p.Arg1180Trp) rs774920921 0.00001
NM_022089.4(ATP13A2):c.385C>T (p.Arg129Trp) rs1318096890 0.00001
NM_022089.4(ATP13A2):c.386G>A (p.Arg129Gln) rs762570832 0.00001
NM_022089.4(ATP13A2):c.464T>G (p.Val155Gly) rs1333931944 0.00001
NM_022089.4(ATP13A2):c.509G>T (p.Gly170Val) rs1369312171 0.00001
NM_022089.4(ATP13A2):c.515G>A (p.Arg172His) rs776601823 0.00001
NM_022089.4(ATP13A2):c.529G>A (p.Glu177Lys) rs1323958366 0.00001
NM_022089.4(ATP13A2):c.59C>T (p.Thr20Met) rs773699589 0.00001
NM_022089.4(ATP13A2):c.668T>C (p.Ile223Thr) rs771489150 0.00001
NM_022089.4(ATP13A2):c.769T>C (p.Tyr257His) rs370403918 0.00001
NM_022089.4(ATP13A2):c.816C>G (p.Cys272Trp) rs755969305 0.00001
NM_025219.3(DNAJC5):c.*1137A>G rs886056943 0.00001
NM_025219.3(DNAJC5):c.*1873C>T rs1349641328 0.00001
NM_025219.3(DNAJC5):c.*1893C>A rs1315620182 0.00001
NM_025219.3(DNAJC5):c.*2545C>G rs577579444 0.00001
NM_025219.3(DNAJC5):c.*4057C>T rs886056954 0.00001
NM_025219.3(DNAJC5):c.*4375C>T rs1465625052 0.00001
NM_025219.3(DNAJC5):c.*686C>T rs886056942 0.00001
NM_025219.3(DNAJC5):c.*80A>G rs886056936 0.00001
NM_025219.3(DNAJC5):c.*944A>T rs774407862 0.00001
NM_025219.3(DNAJC5):c.-12+11T>A rs1216840252 0.00001
NM_025219.3(DNAJC5):c.-185G>T rs886056928 0.00001
NM_025219.3(DNAJC5):c.108G>C (p.Arg36=) rs774703054 0.00001
NM_025219.3(DNAJC5):c.122A>G (p.Lys41Arg) rs528096976 0.00001
NM_025219.3(DNAJC5):c.160G>A (p.Ala54Thr) rs202015608 0.00001
NM_025219.3(DNAJC5):c.161C>T (p.Ala54Val) rs754887788 0.00001
NM_025219.3(DNAJC5):c.187G>A (p.Ala63Thr) rs796052411 0.00001
NM_025219.3(DNAJC5):c.203C>T (p.Thr68Met) rs1382120578 0.00001
NM_025219.3(DNAJC5):c.208G>A (p.Ala70Thr) rs769269113 0.00001
NM_025219.3(DNAJC5):c.31A>G (p.Thr11Ala) rs796052408 0.00001
NM_025219.3(DNAJC5):c.321+8C>T rs773607766 0.00001
NM_025219.3(DNAJC5):c.370T>G (p.Cys124Gly) rs373850027 0.00001
NM_025219.3(DNAJC5):c.55G>A (p.Val19Ile) rs981499477 0.00001
NM_025219.3(DNAJC5):c.58C>T (p.Leu20Phe) rs796052409 0.00001
NM_025219.3(DNAJC5):c.593A>G (p.Asn198Ser) rs778299599 0.00001
NM_025219.3(DNAJC5):c.76G>A (p.Ala26Thr) rs753722773 0.00001
NM_025219.3(DNAJC5):c.7G>C (p.Asp3His) rs887921248 0.00001
NM_025219.3(DNAJC5):c.80C>T (p.Thr27Ile) rs1198430134 0.00001
NM_153033.5(KCTD7):c.*1123A>G rs886062418 0.00001
NM_153033.5(KCTD7):c.*1810C>T rs886062421 0.00001
NM_153033.5(KCTD7):c.*2322G>A rs886062423 0.00001
NM_153033.5(KCTD7):c.*2327T>C rs926998002 0.00001
NM_153033.5(KCTD7):c.*2822G>A rs533167133 0.00001
NM_153033.5(KCTD7):c.*365C>T rs1367502451 0.00001
NM_153033.5(KCTD7):c.*3700G>A rs1464418026 0.00001
NM_153033.5(KCTD7):c.*55C>T rs886062414 0.00001
NM_153033.5(KCTD7):c.*892C>T rs886062417 0.00001
NM_153033.5(KCTD7):c.107C>T (p.Thr36Met) rs773209854 0.00001
NM_153033.5(KCTD7):c.121G>C (p.Ala41Pro) rs766856368 0.00001
NM_153033.5(KCTD7):c.141G>C (p.Gln47His) rs753563583 0.00001
NM_153033.5(KCTD7):c.144+4C>G rs757018925 0.00001
NM_153033.5(KCTD7):c.172G>A (p.Gly58Arg) rs750033880 0.00001
NM_153033.5(KCTD7):c.181C>T (p.His61Tyr) rs368018261 0.00001
NM_153033.5(KCTD7):c.182A>G (p.His61Arg) rs529063727 0.00001
NM_153033.5(KCTD7):c.209G>A (p.Arg70Gln) rs749483829 0.00001
NM_153033.5(KCTD7):c.22G>A (p.Glu8Lys) rs1308286439 0.00001
NM_153033.5(KCTD7):c.239T>C (p.Met80Thr) rs202167686 0.00001
NM_153033.5(KCTD7):c.250C>T (p.Arg84Trp) rs754476100 0.00001
NM_153033.5(KCTD7):c.257A>G (p.Tyr86Cys) rs188483031 0.00001
NM_153033.5(KCTD7):c.259A>G (p.Ile87Val) rs1182254636 0.00001
NM_153033.5(KCTD7):c.274G>A (p.Glu92Lys) rs780710316 0.00001
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp) rs387907260 0.00001
NM_153033.5(KCTD7):c.281G>A (p.Arg94Gln) rs984651812 0.00001
NM_153033.5(KCTD7):c.334C>T (p.Arg112Cys) rs769991459 0.00001
NM_153033.5(KCTD7):c.35G>C (p.Arg12Pro) rs763423181 0.00001
NM_153033.5(KCTD7):c.380A>G (p.Lys127Arg) rs765083971 0.00001
NM_153033.5(KCTD7):c.403G>A (p.Gly135Arg) rs781725855 0.00001
NM_153033.5(KCTD7):c.422_424dup (p.Leu141_Glu142insVal) rs747385800 0.00001
NM_153033.5(KCTD7):c.444G>T (p.Lys148Asn) rs746540809 0.00001
NM_153033.5(KCTD7):c.494-3T>C rs1786646567 0.00001
NM_153033.5(KCTD7):c.524G>A (p.Arg175Gln) rs758709078 0.00001
NM_153033.5(KCTD7):c.530G>A (p.Arg177His) rs1469857830 0.00001
NM_153033.5(KCTD7):c.533C>T (p.Ala178Val) rs368001837 0.00001
NM_153033.5(KCTD7):c.542G>A (p.Arg181Gln) rs754654827 0.00001
NM_153033.5(KCTD7):c.602C>G (p.Pro201Arg) rs774050685 0.00001
NM_153033.5(KCTD7):c.61T>G (p.Ser21Ala) rs753471689 0.00001
NM_153033.5(KCTD7):c.623A>G (p.Asn208Ser) rs762356641 0.00001
NM_153033.5(KCTD7):c.632G>T (p.Arg211Leu) rs376332394 0.00001
NM_153033.5(KCTD7):c.640C>T (p.Arg214Trp) rs755711171 0.00001
NM_153033.5(KCTD7):c.641G>A (p.Arg214Gln) rs1362697719 0.00001
NM_153033.5(KCTD7):c.68C>T (p.Ala23Val) rs745360140 0.00001
NM_153033.5(KCTD7):c.763C>G (p.Gln255Glu) rs766720725 0.00001
NM_153033.5(KCTD7):c.89C>T (p.Pro30Leu) rs890695139 0.00001
GRCh38/hg38 4q28.2(chr4:127964562-127965767)x0
NC_000001.10:g.(?_17312716)_(17338233_?)dup
NC_000001.10:g.(?_17316166)_(17338233_?)dup
NC_000001.10:g.(?_40539713)_(40562930_?)dup
NC_000001.10:g.(?_40539733)_(40539875_?)dup
NC_000001.10:g.(?_40539733)_(40546179_?)dup
NC_000004.11:g.(?_128554190)_(128886288_?)dup
NC_000004.11:g.(?_128802290)_(128886288_?)dup
NC_000004.11:g.(?_128804417)_(129131208_?)dup
NC_000004.11:g.(?_128841785)_(128851992_?)dup
NC_000004.11:g.(?_128851818)_(128886288_?)dup
NC_000004.11:g.(?_128851818)_(128886308_?)dup
NC_000004.11:g.(?_128851838)_(128886363_?)dup
NC_000004.11:g.(?_128886207)_(128886288_?)dup
NC_000004.12:g.(?_127920610)_(127965153_?)dup
NC_000007.13:g.(?_66094032)_(66105401_?)dup
NC_000007.13:g.(?_66094052)_(66094215_?)dup
NC_000007.13:g.(?_66094052)_(66103438_?)dup
NC_000008.10:g.(?_1719201)_(1728753_?)dup
NC_000008.10:g.(?_1719221)_(1728733_?)dup
NC_000011.9:g.(?_1774733)_(1778806_?)del
NC_000011.9:g.(?_1774733)_(1778806_?)dup
NC_000011.9:g.(?_1774733)_(1785089_?)dup
NC_000011.9:g.(?_1774733)_(2019125_?)dup
NC_000011.9:g.(?_532616)_(2906985_?)dup
NC_000011.9:g.(?_5709028)_(6640651_?)dup
NC_000013.10:g.(?_77566087)_(77575104_?)dup
NC_000013.11:g.(?_76991932)_(77000989_?)dup
NC_000013.11:g.76991953T>A rs201615354
NC_000013.11:g.76991961A>T rs1336864663
NC_000013.11:g.76991967C>A
NC_000013.11:g.76991968G>T rs1391354551
NC_000013.11:g.76991971T>C
NC_000013.11:g.76991973G>T rs762873839
NC_000013.11:g.76991974G>C rs1037355085
NC_000013.11:g.76991976C>A
NC_000013.11:g.76991982T>A
NC_000013.11:g.76991982T>C rs755587208
NC_000013.11:g.76991982T>G
NC_000013.11:g.76991983C>G
NC_000013.11:g.76991986G>A rs1465531119
NC_000013.11:g.76991993C>G rs1259746826
NC_000013.11:g.76992001G>A rs769990158
NC_000013.11:g.76992003C>A rs773979248
NC_000013.11:g.76992004A>G rs1287993760
NC_000013.11:g.76992005A>C
NC_000013.11:g.76992013C>G rs988786332
NC_000013.11:g.76992015C>G
NC_000013.11:g.76992015C>T rs558597827
NC_000013.11:g.76992025T>A rs1182554801
NC_000013.11:g.76992027G>C rs2154034205
NC_000013.11:g.76992033C>T
NC_000013.11:g.76992036C>T rs2154034208
NC_000013.11:g.76992041G>A rs2154034210
NC_000013.11:g.76992052C>A
NC_000013.11:g.76992055C>T
NC_000013.11:g.76992058C>A
NC_000013.11:g.76992058C>T
NC_000013.11:g.76992063G>A rs1351624850
NC_000013.11:g.76992066T>A rs1223625391
NC_000013.11:g.76992066T>G rs1223625391
NC_000013.11:g.76992067C>A rs61504484
NC_000013.11:g.76992067C>T rs61504484
NC_000013.11:g.76992076C>T rs949213778
NC_000015.9:g.(?_66161924)_(69018313_?)dup
NC_000015.9:g.(?_68500478)_(68521922_?)dup
NC_000016.10:g.(?_28475343)_(28477877_?)dup
NC_000016.9:g.(?_28486664)_(28489218_?)dup
NC_000016.9:g.(?_28486664)_(28503100_?)dup
NC_000016.9:g.(?_28488817)_(28489218_?)dup
NC_000016.9:g.(?_28488837)_(28489218_?)dup
NC_000016.9:g.(?_28488837)_(28495459_?)dup
NC_000016.9:g.(?_28499892)_(28503100_?)dup
NC_000016.9:g.(?_28499902)_(28503090_?)dup
NC_000017.11:g.(?_44027807)_(44352876_?)dup
NC_000020.10:g.(?_61978090)_(62562921_?)del
NC_000020.10:g.(?_61978090)_(62562921_?)dup
NC_000020.10:g.(?_62542275)_(62559715_?)del
NC_000020.10:g.(?_62559679)_(62562941_?)dup
NC_000020.10:g.(?_62559688)_(62567384_?)dup
NC_000020.10:g.(?_62559699)_(62562395_?)del
NC_000020.11:g.(?_63928326)_(63931588_?)del
NM_000310.3(PPT1):c.-73G>C rs559058511
NM_000310.4(PPT1):c.*1088G>A rs1057515481
NM_000310.4(PPT1):c.*127A>T rs780010424
NM_000310.4(PPT1):c.*252C>T rs1057515447
NM_000310.4(PPT1):c.*521_*532dup rs1553166026
NM_000310.4(PPT1):c.*529_*530insAGCA rs1553166029
NM_000310.4(PPT1):c.*529_*530insGTCA rs1553166030
NM_000310.4(PPT1):c.*709T>C rs767547423
NM_000310.4(PPT1):c.*969A>G rs376286074
NM_000310.4(PPT1):c.113G>C (p.Trp38Ser) rs1026370829
NM_000310.4(PPT1):c.115_120del (p.His39_Gly40del) rs2124494364
NM_000310.4(PPT1):c.124+7G>A
NM_000310.4(PPT1):c.124G>A (p.Gly42Arg) rs1649898946
NM_000310.4(PPT1):c.125-3T>C
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu) rs386833631
NM_000310.4(PPT1):c.143C>T (p.Pro48Leu)
NM_000310.4(PPT1):c.147A>C (p.Leu49Phe) rs781048683
NM_000310.4(PPT1):c.155G>C (p.Gly52Ala) rs1225799280
NM_000310.4(PPT1):c.167A>T (p.Lys56Ile) rs2124488428
NM_000310.4(PPT1):c.170T>A (p.Met57Lys)
NM_000310.4(PPT1):c.170T>C (p.Met57Thr) rs766489334
NM_000310.4(PPT1):c.175_177del (p.Glu59del) rs1553167495
NM_000310.4(PPT1):c.17G>C (p.Cys6Ser) rs202241486
NM_000310.4(PPT1):c.17G>T (p.Cys6Phe) rs202241486
NM_000310.4(PPT1):c.184A>C (p.Ile62Leu)
NM_000310.4(PPT1):c.190G>C (p.Gly64Arg)
NM_000310.4(PPT1):c.191G>A (p.Gly64Glu)
NM_000310.4(PPT1):c.19C>A (p.Leu7Met) rs375262288
NM_000310.4(PPT1):c.233A>C (p.Glu78Ala)
NM_000310.4(PPT1):c.233A>G (p.Glu78Gly) rs769365325
NM_000310.4(PPT1):c.234+8G>A rs746750426
NM_000310.4(PPT1):c.237C>A (p.Asp79Glu)
NM_000310.4(PPT1):c.239T>G (p.Val80Gly) rs762619451
NM_000310.4(PPT1):c.241G>A (p.Glu81Lys)
NM_000310.4(PPT1):c.246C>A (p.Asn82Lys)
NM_000310.4(PPT1):c.25C>T (p.Leu9Phe)
NM_000310.4(PPT1):c.265A>G (p.Asn89Asp) rs1649599567
NM_000310.4(PPT1):c.277A>G (p.Thr93Ala)
NM_000310.4(PPT1):c.293C>T (p.Ala98Val) rs768065632
NM_000310.4(PPT1):c.317A>G (p.Gln106Arg)
NM_000310.4(PPT1):c.328A>G (p.Asn110Asp) rs776026842
NM_000310.4(PPT1):c.32C>A (p.Ala11Asp)
NM_000310.4(PPT1):c.334A>G (p.Met112Val) rs760532726
NM_000310.4(PPT1):c.341T>C (p.Phe114Ser) rs771910918
NM_000310.4(PPT1):c.35T>C (p.Val12Ala)
NM_000310.4(PPT1):c.362+5G>A rs796052924
NM_000310.4(PPT1):c.363-5C>G rs112553480
NM_000310.4(PPT1):c.363G>A (p.Leu121=)
NM_000310.4(PPT1):c.386C>T (p.Pro129Leu)
NM_000310.4(PPT1):c.401T>G (p.Ile134Ser)
NM_000310.4(PPT1):c.404A>G (p.Asn135Ser) rs1342695798
NM_000310.4(PPT1):c.40C>G (p.Leu14Val) rs550492793
NM_000310.4(PPT1):c.410T>C (p.Ile137Thr)
NM_000310.4(PPT1):c.428A>G (p.His143Arg)
NM_000310.4(PPT1):c.430C>G (p.Gln144Glu)
NM_000310.4(PPT1):c.433+5C>A rs1553167414
NM_000310.4(PPT1):c.433G>A (p.Gly145Ser) rs369186379
NM_000310.4(PPT1):c.443G>A (p.Gly148Glu)
NM_000310.4(PPT1):c.443G>T (p.Gly148Val)
NM_000310.4(PPT1):c.451C>G (p.Arg151Gly) rs137852700
NM_000310.4(PPT1):c.474C>A (p.His158Gln)
NM_000310.4(PPT1):c.491G>A (p.Arg164Gln)
NM_000310.4(PPT1):c.49T>C (p.Trp17Arg) rs775853398
NM_000310.4(PPT1):c.509G>A (p.Gly170Glu) rs1553167257
NM_000310.4(PPT1):c.511G>C (p.Ala171Pro)
NM_000310.4(PPT1):c.518C>T (p.Ser173Phe) rs1649436438
NM_000310.4(PPT1):c.520A>G (p.Lys174Glu) rs1649436304
NM_000310.4(PPT1):c.521A>G (p.Lys174Arg)
NM_000310.4(PPT1):c.537-3C>T
NM_000310.4(PPT1):c.553T>C (p.Tyr185His) rs2124474563
NM_000310.4(PPT1):c.564C>A (p.Asp188Glu) rs1349674706
NM_000310.4(PPT1):c.566C>T (p.Pro189Leu)
NM_000310.4(PPT1):c.56_57delinsCT (p.Cys19Ser)
NM_000310.4(PPT1):c.572A>C (p.Lys191Thr) rs1557708208
NM_000310.4(PPT1):c.574G>A (p.Glu192Lys) rs1557708202
NM_000310.4(PPT1):c.57C>G (p.Cys19Trp)
NM_000310.4(PPT1):c.583T>C (p.Tyr195His) rs1648869873
NM_000310.4(PPT1):c.583T>G (p.Tyr195Asp) rs1648869873
NM_000310.4(PPT1):c.59C>T (p.Ala20Val) rs1187613034
NM_000310.4(PPT1):c.5C>T (p.Ala2Val)
NM_000310.4(PPT1):c.607G>A (p.Ala203Thr)
NM_000310.4(PPT1):c.628G>A (p.Gly210Ser) rs200434104
NM_000310.4(PPT1):c.634A>G (p.Asn212Asp)
NM_000310.4(PPT1):c.634A>T (p.Asn212Tyr) rs375831846
NM_000310.4(PPT1):c.635A>G (p.Asn212Ser)
NM_000310.4(PPT1):c.646A>G (p.Lys216Glu) rs766163400
NM_000310.4(PPT1):c.64C>T (p.Arg22Trp) rs1189526127
NM_000310.4(PPT1):c.65G>C (p.Arg22Pro) rs1649904164
NM_000310.4(PPT1):c.662C>T (p.Ala221Val)
NM_000310.4(PPT1):c.674T>C (p.Phe225Ser) rs386833662
NM_000310.4(PPT1):c.690C>T (p.Phe230=) rs1648754113
NM_000310.4(PPT1):c.696T>G (p.Asn232Lys)
NM_000310.4(PPT1):c.704T>C (p.Ile235Thr)
NM_000310.4(PPT1):c.705T>C (p.Ile235=) rs1057515448
NM_000310.4(PPT1):c.718G>A (p.Asp240Asn) rs796052926
NM_000310.4(PPT1):c.733G>C (p.Gly245Arg) rs1259755308
NM_000310.4(PPT1):c.745A>T (p.Ser249Cys)
NM_000310.4(PPT1):c.770C>T (p.Pro257Leu) rs2124470302
NM_000310.4(PPT1):c.794C>G (p.Thr265Arg) rs746139685
NM_000310.4(PPT1):c.822G>A (p.Met274Ile) rs1648441107
NM_000310.4(PPT1):c.824A>T (p.Asp275Val) rs775402028
NM_000310.4(PPT1):c.832G>A (p.Gly278Arg) rs1243793048
NM_000310.4(PPT1):c.84C>G (p.Asp28Glu) rs1228014012
NM_000310.4(PPT1):c.850G>C (p.Ala284Pro) rs1648437826
NM_000310.4(PPT1):c.862G>A (p.Asp288Asn) rs749414998
NM_000310.4(PPT1):c.878C>T (p.Ser293Phe) rs374154128
NM_000310.4(PPT1):c.894T>C (p.Tyr298=) rs781759073
NM_000310.4(PPT1):c.896C>T (p.Ala299Val) rs768943497
NM_000310.4(PPT1):c.899A>C (p.His300Pro)
NM_000310.4(PPT1):c.89C>G (p.Pro30Arg)
NM_000310.4(PPT1):c.8C>T (p.Ser3Leu)
NM_000310.4(PPT1):c.902T>A (p.Ile301Asn) rs1648432406
NM_000310.4(PPT1):c.906A>G (p.Ile302Met)
NM_000310.4(PPT1):c.910T>C (p.Phe304Leu) rs1557704819
NM_000310.4(PPT1):c.914T>G (p.Leu305Arg) rs386833671
NM_000310.4(PPT1):c.916G>C (p.Gly306Arg)
NM_000310.4(PPT1):c.98T>A (p.Leu33Gln) rs2124494434
NM_000391.4(TPP1):c.*1000T>C rs886048538
NM_000391.4(TPP1):c.*1108T>C rs1855527274
NM_000391.4(TPP1):c.*124C>T rs985151429
NM_000391.4(TPP1):c.*1302A>T rs886048537
NM_000391.4(TPP1):c.*1311C>T rs886048536
NM_000391.4(TPP1):c.*1508G>A rs561558362
NM_000391.4(TPP1):c.*1741G>T rs1299016829
NM_000391.4(TPP1):c.1016G>T (p.Arg339Leu) rs765380155
NM_000391.4(TPP1):c.1042_1047del (p.Ala348_Ala349del) rs1554901785
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp) rs1554901784
NM_000391.4(TPP1):c.1075+5C>T rs1242288949
NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu) rs1564854760
NM_000391.4(TPP1):c.1116C>T (p.His372=) rs751321300
NM_000391.4(TPP1):c.1145G>C (p.Ser382Thr) rs761448855
NM_000391.4(TPP1):c.1168G>C (p.Gly390Arg)
NM_000391.4(TPP1):c.11A>T (p.Gln4Leu) rs567523850
NM_000391.4(TPP1):c.1243G>A (p.Val415Met) rs2134591998
NM_000391.4(TPP1):c.1279A>T (p.Thr427Ser) rs769487055
NM_000391.4(TPP1):c.1300C>T (p.Pro434Ser) rs1420637772
NM_000391.4(TPP1):c.1303C>G (p.His435Asp) rs755829911
NM_000391.4(TPP1):c.1351G>T (p.Asp451Tyr) rs1589947644
NM_000391.4(TPP1):c.1434T>C (p.Thr478=) rs1855555887
NM_000391.4(TPP1):c.1495C>A (p.Pro499Thr) rs201126448
NM_000391.4(TPP1):c.1496C>G (p.Pro499Arg) rs773707856
NM_000391.4(TPP1):c.1496C>T (p.Pro499Leu) rs773707856
NM_000391.4(TPP1):c.1547_1548del (p.Leu515_Phe516insTer) rs763961289
NM_000391.4(TPP1):c.1558C>T (p.Arg520Cys) rs371204585
NM_000391.4(TPP1):c.1570G>A (p.Glu524Lys) rs1157546558
NM_000391.4(TPP1):c.1610G>A (p.Cys537Tyr) rs777744177
NM_000391.4(TPP1):c.164A>G (p.Gln55Arg)
NM_000391.4(TPP1):c.1679T>C (p.Leu560Pro)
NM_000391.4(TPP1):c.17G>C (p.Cys6Ser) rs1589949717
NM_000391.4(TPP1):c.18-5T>C rs1855634037
NM_000391.4(TPP1):c.18-7C>T rs1855634111
NM_000391.4(TPP1):c.35C>T (p.Ala12Val) rs1855633689
NM_000391.4(TPP1):c.457T>C (p.Ser153Pro) rs1554902028
NM_000391.4(TPP1):c.497A>T (p.His166Leu) rs796053437
NM_000391.4(TPP1):c.508+2dup rs1554902017
NM_000391.4(TPP1):c.509-8C>A rs771299096
NM_000391.4(TPP1):c.514G>A (p.Gly172Arg) rs1368354280
NM_000391.4(TPP1):c.532C>G (p.Pro178Ala) rs149986601
NM_000391.4(TPP1):c.535A>T (p.Thr179Ser) rs1488047336
NM_000391.4(TPP1):c.635C>A (p.Thr212Asn)
NM_000391.4(TPP1):c.65G>A (p.Ser22Asn) rs202025584
NM_000391.4(TPP1):c.694G>A (p.Glu232Lys) rs1326646704
NM_000391.4(TPP1):c.731T>C (p.Met244Thr) rs1554901895
NM_000391.4(TPP1):c.733C>T (p.Arg245Cys) rs587780481
NM_000391.4(TPP1):c.751T>C (p.Phe251Leu) rs1855592796
NM_000391.4(TPP1):c.763G>C (p.Ala255Pro) rs1356628460
NM_000391.4(TPP1):c.76G>A (p.Asp26Asn) rs1324731086
NM_000391.4(TPP1):c.808G>A (p.Gly270Arg) rs561854371
NM_000391.4(TPP1):c.833A>C (p.Gln278Pro) rs796053439
NM_000391.4(TPP1):c.843G>A (p.Met281Ile) rs776489592
NM_000391.4(TPP1):c.886+5del rs1855590004
NM_000391.4(TPP1):c.886+7C>T rs886048543
NM_000391.4(TPP1):c.88A>G (p.Thr30Ala) rs1855632314
NM_000391.4(TPP1):c.898G>A (p.Gly300Arg) rs1564855000
NM_000391.4(TPP1):c.95C>G (p.Pro32Arg)
NM_000391.4(TPP1):c.992C>A (p.Ser331Tyr) rs755386210
NM_000391.4(TPP1):c.992C>T (p.Ser331Phe) rs755386210
NM_001042432.1(CLN3):c.-210G>T rs2046326373
NM_001042432.1(CLN3):c.-218G>A rs886051874
NM_001042432.1(CLN3):c.-279G>C rs1232959828
NM_001042432.2(CLN3):c.*111G>T rs2046010035
NM_001042432.2(CLN3):c.-112C>T rs572212180
NM_001042432.2(CLN3):c.-1G>T rs201274333
NM_001042432.2(CLN3):c.-77+14G>T rs886051873
NM_001042432.2(CLN3):c.1003T>C (p.Ser335Pro) rs1567257016
NM_001042432.2(CLN3):c.1019G>A (p.Cys340Tyr) rs1174122334
NM_001042432.2(CLN3):c.101A>T (p.His34Leu)
NM_001042432.2(CLN3):c.1043T>C (p.Leu348Pro)
NM_001042432.2(CLN3):c.1046C>T (p.Ala349Val) rs2141702560
NM_001042432.2(CLN3):c.1056+5C>A
NM_001042432.2(CLN3):c.1056+6A>G rs2141702501
NM_001042432.2(CLN3):c.1057-14C>A rs773692029
NM_001042432.2(CLN3):c.1057-5C>G
NM_001042432.2(CLN3):c.1057-9del rs1288269632
NM_001042432.2(CLN3):c.1058G>A (p.Cys353Tyr)
NM_001042432.2(CLN3):c.1058G>T (p.Cys353Phe)
NM_001042432.2(CLN3):c.1069G>T (p.Val357Leu) rs1567254103
NM_001042432.2(CLN3):c.1084G>A (p.Asp362Asn) rs2046022965
NM_001042432.2(CLN3):c.1088T>G (p.Val363Gly)
NM_001042432.2(CLN3):c.1096G>A (p.Gly366Ser) rs772209464
NM_001042432.2(CLN3):c.1097G>T (p.Gly366Val) rs371214018
NM_001042432.2(CLN3):c.1099T>C (p.Phe367Leu)
NM_001042432.2(CLN3):c.1108A>G (p.Ser370Gly) rs2141694271
NM_001042432.2(CLN3):c.1117C>T (p.Leu373Phe)
NM_001042432.2(CLN3):c.111C>G (p.Asn37Lys)
NM_001042432.2(CLN3):c.1121T>C (p.Val374Ala) rs1596619733
NM_001042432.2(CLN3):c.1138T>C (p.Tyr380His)
NM_001042432.2(CLN3):c.1147C>T (p.Leu383Phe)
NM_001042432.2(CLN3):c.1160C>T (p.Ala387Val) rs2141694140
NM_001042432.2(CLN3):c.1162G>A (p.Ala388Thr)
NM_001042432.2(CLN3):c.1166A>T (p.Tyr389Phe)
NM_001042432.2(CLN3):c.1178T>A (p.Phe393Tyr) rs2141694088
NM_001042432.2(CLN3):c.1181A>G (p.His394Arg)
NM_001042432.2(CLN3):c.1183A>G (p.Asn395Asp) rs2141694073
NM_001042432.2(CLN3):c.1184A>T (p.Asn395Ile) rs2046020900
NM_001042432.2(CLN3):c.1189G>A (p.Ala397Thr)
NM_001042432.2(CLN3):c.1198-3C>T rs2046017696
NM_001042432.2(CLN3):c.1204G>A (p.Asp402Asn)
NM_001042432.2(CLN3):c.1210C>T (p.His404Tyr) rs146610181
NM_001042432.2(CLN3):c.1231G>T (p.Ala411Ser)
NM_001042432.2(CLN3):c.1265T>C (p.Leu422Pro) rs2046014482
NM_001042432.2(CLN3):c.1267dup (p.Ser423fs)
NM_001042432.2(CLN3):c.1276C>G (p.Leu426Val) rs1596619187
NM_001042432.2(CLN3):c.1285C>T (p.Pro429Ser) rs1433950864
NM_001042432.2(CLN3):c.1291C>T (p.His431Tyr) rs759510380
NM_001042432.2(CLN3):c.136C>G (p.Leu46Val)
NM_001042432.2(CLN3):c.143A>G (p.Asn48Ser)
NM_001042432.2(CLN3):c.143A>T (p.Asn48Ile)
NM_001042432.2(CLN3):c.145A>C (p.Asn49His)
NM_001042432.2(CLN3):c.147C>G (p.Asn49Lys) rs571216643
NM_001042432.2(CLN3):c.159G>A (p.Val53=) rs2046275556
NM_001042432.2(CLN3):c.170G>A (p.Ser57Asn)
NM_001042432.2(CLN3):c.191G>A (p.Ser64Asn) rs2046274351
NM_001042432.2(CLN3):c.196A>C (p.Lys66Gln)
NM_001042432.2(CLN3):c.206C>G (p.Ser69Trp) rs769840061
NM_001042432.2(CLN3):c.214_216del (p.Gln72del) rs1473036975
NM_001042432.2(CLN3):c.218G>A (p.Ser73Asn)
NM_001042432.2(CLN3):c.222+3A>T
NM_001042432.2(CLN3):c.222+5G>C rs386833711
NM_001042432.2(CLN3):c.236C>T (p.Pro79Leu) rs1596564333
NM_001042432.2(CLN3):c.238A>G (p.Thr80Ala) rs150348015
NM_001042432.2(CLN3):c.23G>A (p.Arg8Gln)
NM_001042432.2(CLN3):c.248C>T (p.Pro83Leu)
NM_001042432.2(CLN3):c.251A>G (p.His84Arg) rs2046262515
NM_001042432.2(CLN3):c.260C>T (p.Ser87Leu) rs2141717001
NM_001042432.2(CLN3):c.266G>T (p.Arg89Leu) rs766287694
NM_001042432.2(CLN3):c.270T>G (p.Phe90Leu) rs145520962
NM_001042432.2(CLN3):c.276C>G (p.Cys92Trp)
NM_001042432.2(CLN3):c.278A>G (p.Asn93Ser) rs140409296
NM_001042432.2(CLN3):c.283G>A (p.Val95Ile) rs763659524
NM_001042432.2(CLN3):c.293C>A (p.Ala98Asp) rs1361279384
NM_001042432.2(CLN3):c.293C>T (p.Ala98Val)
NM_001042432.2(CLN3):c.294+4C>T
NM_001042432.2(CLN3):c.294+8_294+10inv
NM_001042432.2(CLN3):c.29G>A (p.Arg10His)
NM_001042432.2(CLN3):c.304C>G (p.Leu102Val) rs1167562278
NM_001042432.2(CLN3):c.307G>A (p.Ala103Thr)
NM_001042432.2(CLN3):c.313A>T (p.Ile105Phe)
NM_001042432.2(CLN3):c.317T>A (p.Leu106His) rs2046245840
NM_001042432.2(CLN3):c.320C>G (p.Pro107Arg)
NM_001042432.2(CLN3):c.320C>T (p.Pro107Leu) rs1231056238
NM_001042432.2(CLN3):c.322A>G (p.Thr108Ala) rs1302804526
NM_001042432.2(CLN3):c.323C>T (p.Thr108Ile)
NM_001042432.2(CLN3):c.326T>C (p.Leu109Pro)
NM_001042432.2(CLN3):c.358C>A (p.His120Asn) rs145749864
NM_001042432.2(CLN3):c.358C>T (p.His120Tyr)
NM_001042432.2(CLN3):c.362T>G (p.Leu121Arg) rs2046244488
NM_001042432.2(CLN3):c.367C>T (p.Pro123Ser) rs1567261702
NM_001042432.2(CLN3):c.374G>A (p.Ser125Asn) rs386833716
NM_001042432.2(CLN3):c.375C>T (p.Ser125=)
NM_001042432.2(CLN3):c.37G>T (p.Asp13Tyr)
NM_001042432.2(CLN3):c.386_387delinsCT (p.Leu129Pro)
NM_001042432.2(CLN3):c.388G>A (p.Val130Ile) rs764261700
NM_001042432.2(CLN3):c.388G>T (p.Val130Phe) rs764261700
NM_001042432.2(CLN3):c.391A>G (p.Ser131Gly) rs2046239997
NM_001042432.2(CLN3):c.397A>T (p.Ile133Phe) rs1295659689
NM_001042432.2(CLN3):c.400T>C (p.Cys134Arg) rs386833719
NM_001042432.2(CLN3):c.403G>A (p.Ala135Thr) rs1314360861
NM_001042432.2(CLN3):c.406G>T (p.Ala136Ser) rs2046239467
NM_001042432.2(CLN3):c.419T>C (p.Val140Ala)
NM_001042432.2(CLN3):c.41C>T (p.Ser14Phe) rs2141722690
NM_001042432.2(CLN3):c.421C>G (p.Leu141Val) rs2141714404
NM_001042432.2(CLN3):c.422T>C (p.Leu141Pro) rs2046239033
NM_001042432.2(CLN3):c.427G>A (p.Ala143Thr) rs904694610
NM_001042432.2(CLN3):c.433T>C (p.Ser145Pro) rs780814580
NM_001042432.2(CLN3):c.439T>G (p.Ser147Ala) rs2141714357
NM_001042432.2(CLN3):c.43G>A (p.Glu15Lys)
NM_001042432.2(CLN3):c.443_445del (p.Val148del) rs752130042
NM_001042432.2(CLN3):c.451A>T (p.Ser151Cys) rs2141714276
NM_001042432.2(CLN3):c.458G>A (p.Cys153Tyr) rs750813350
NM_001042432.2(CLN3):c.46+5G>A
NM_001042432.2(CLN3):c.461-3C>T rs181995380
NM_001042432.2(CLN3):c.466G>C (p.Val156Leu)
NM_001042432.2(CLN3):c.472G>A (p.Ala158Thr) rs386833723
NM_001042432.2(CLN3):c.482C>T (p.Ser161Leu) rs386833724
NM_001042432.2(CLN3):c.490C>G (p.Leu164Val)
NM_001042432.2(CLN3):c.497A>G (p.Glu166Gly) rs2141712916
NM_001042432.2(CLN3):c.505T>G (p.Phe169Val) rs1392387565
NM_001042432.2(CLN3):c.512C>T (p.Ser171Phe) rs1401497994
NM_001042432.2(CLN3):c.526T>C (p.Tyr176His) rs1191755724
NM_001042432.2(CLN3):c.530C>T (p.Pro177Leu)
NM_001042432.2(CLN3):c.533+3_533+10del rs2141712782
NM_001042432.2(CLN3):c.533+6C>T rs2141712792
NM_001042432.2(CLN3):c.538G>C (p.Val180Leu) rs202215629
NM_001042432.2(CLN3):c.53A>G (p.Glu18Gly) rs2046314460
NM_001042432.2(CLN3):c.54G>T (p.Glu18Asp) rs2141722130
NM_001042432.2(CLN3):c.554C>T (p.Ser185Phe) rs2046221010
NM_001042432.2(CLN3):c.560G>A (p.Gly187Glu)
NM_001042432.2(CLN3):c.565G>T (p.Gly189Trp) rs386833731
NM_001042432.2(CLN3):c.56C>T (p.Thr19Ile)
NM_001042432.2(CLN3):c.575G>A (p.Gly192Glu) rs386833733
NM_001042432.2(CLN3):c.589C>G (p.Leu197Val) rs753705869
NM_001042432.2(CLN3):c.608C>T (p.Thr203Ile)
NM_001042432.2(CLN3):c.611A>C (p.Gln204Pro) rs2141712276
NM_001042432.2(CLN3):c.620T>C (p.Leu207Pro) rs1411868641
NM_001042432.2(CLN3):c.62C>G (p.Pro21Arg)
NM_001042432.2(CLN3):c.62C>T (p.Pro21Leu) rs562525993
NM_001042432.2(CLN3):c.644C>T (p.Ser215Phe)
NM_001042432.2(CLN3):c.646A>G (p.Met216Val) rs2046218124
NM_001042432.2(CLN3):c.662C>T (p.Ala221Val)
NM_001042432.2(CLN3):c.671T>C (p.Leu224Pro) rs2046217325
NM_001042432.2(CLN3):c.676A>G (p.Ser226Gly) rs1555468695
NM_001042432.2(CLN3):c.677+5G>C
NM_001042432.2(CLN3):c.688T>A (p.Leu230Met) rs746075287
NM_001042432.2(CLN3):c.689T>G (p.Leu230Trp) rs2046161855
NM_001042432.2(CLN3):c.698C>A (p.Ser233Tyr) rs2046161412
NM_001042432.2(CLN3):c.707C>T (p.Ala236Val) rs754906598
NM_001042432.2(CLN3):c.725AAG[2] (p.Glu244del) rs796052340
NM_001042432.2(CLN3):c.726A>T (p.Glu242Asp) rs2046160396
NM_001042432.2(CLN3):c.731A>C (p.Glu244Ala) rs2046160099
NM_001042432.2(CLN3):c.734C>A (p.Ala245Glu) rs2141706952
NM_001042432.2(CLN3):c.734_736del (p.Ala245del) rs776966610
NM_001042432.2(CLN3):c.737A>T (p.Glu246Val) rs2046159849
NM_001042432.2(CLN3):c.739A>C (p.Ser247Arg)
NM_001042432.2(CLN3):c.749G>C (p.Arg250Pro) rs374217931
NM_001042432.2(CLN3):c.755C>T (p.Pro252Leu) rs761065339
NM_001042432.2(CLN3):c.767C>T (p.Thr256Ile) rs1064796298
NM_001042432.2(CLN3):c.771G>C (p.Glu257Asp) rs73533466
NM_001042432.2(CLN3):c.772G>A (p.Ala258Thr)
NM_001042432.2(CLN3):c.775C>T (p.Pro259Ser)
NM_001042432.2(CLN3):c.776C>A (p.Pro259Gln) rs137858807
NM_001042432.2(CLN3):c.784A>G (p.Lys262Glu)
NM_001042432.2(CLN3):c.790+3A>C rs386833738
NM_001042432.2(CLN3):c.790G>T (p.Gly264Cys) rs2046156366
NM_001042432.2(CLN3):c.793T>G (p.Ser265Ala) rs2141704251
NM_001042432.2(CLN3):c.794C>T (p.Ser265Phe)
NM_001042432.2(CLN3):c.7G>A (p.Gly3Ser) rs1398814860
NM_001042432.2(CLN3):c.805C>T (p.Leu269Phe) rs1308474116
NM_001042432.2(CLN3):c.80T>C (p.Leu27Pro)
NM_001042432.2(CLN3):c.832T>A (p.Phe278Ile) rs1567257709
NM_001042432.2(CLN3):c.837+3del rs759553835
NM_001042432.2(CLN3):c.837+4C>T rs778372397
NM_001042432.2(CLN3):c.845_847dup (p.Leu282_Trp283insLeu)
NM_001042432.2(CLN3):c.853A>G (p.Ile285Val) rs748844685
NM_001042432.2(CLN3):c.859C>A (p.Pro287Thr) rs796052341
NM_001042432.2(CLN3):c.868G>A (p.Val290Ile) rs369008702
NM_001042432.2(CLN3):c.868G>T (p.Val290Leu) rs369008702
NM_001042432.2(CLN3):c.870A>G (p.Val290=) rs1555468214
NM_001042432.2(CLN3):c.87C>A (p.Asp29Glu) rs1131691496
NM_001042432.2(CLN3):c.884A>G (p.Glu295Gly) rs2141703722
NM_001042432.2(CLN3):c.907-3C>T
NM_001042432.2(CLN3):c.916C>T (p.Leu306Phe)
NM_001042432.2(CLN3):c.931A>G (p.Thr311Ala)
NM_001042432.2(CLN3):c.943C>G (p.His315Asp) rs2141703350
NM_001042432.2(CLN3):c.946G>T (p.Ala316Ser) rs780974004
NM_001042432.2(CLN3):c.947C>G (p.Ala316Gly) rs2046112700
NM_001042432.2(CLN3):c.954A>T (p.Gln318His) rs2141703284
NM_001042432.2(CLN3):c.956A>G (p.Tyr319Cys) rs1322613715
NM_001042432.2(CLN3):c.962+2dup
NM_001042432.2(CLN3):c.962+4A>G rs1596556713
NM_001042432.2(CLN3):c.995C>T (p.Ala332Val)
NM_001371596.2(MFSD8):c.*1603C>T rs536079775
NM_001371596.2(MFSD8):c.*1709G>C rs1736073397
NM_001371596.2(MFSD8):c.*1918T>C rs1736059247
NM_001371596.2(MFSD8):c.*1969G>C rs547746685
NM_001371596.2(MFSD8):c.*2010T>C rs1736052846
NM_001371596.2(MFSD8):c.*208C>T rs886059069
NM_001371596.2(MFSD8):c.*2369C>G rs150664430
NM_001371596.2(MFSD8):c.*414C>A rs566768714
NM_001371596.2(MFSD8):c.*839C>A rs886059067
NM_001371596.2(MFSD8):c.*842T>G rs1736132516
NM_001371596.2(MFSD8):c.1001T>C (p.Ile334Thr)
NM_001371596.2(MFSD8):c.1006G>A (p.Glu336Lys) rs150418024
NM_001371596.2(MFSD8):c.1009C>T (p.Arg337Cys)
NM_001371596.2(MFSD8):c.1010G>C (p.Arg337Pro) rs200386040
NM_001371596.2(MFSD8):c.1013C>A (p.Ala338Asp)
NM_001371596.2(MFSD8):c.1016T>G (p.Ile339Ser) rs2148841393
NM_001371596.2(MFSD8):c.1024G>C (p.Gly342Arg)
NM_001371596.2(MFSD8):c.1039G>A (p.Val347Ile)
NM_001371596.2(MFSD8):c.1040dup (p.Trp348fs) rs1560718555
NM_001371596.2(MFSD8):c.1066C>A (p.Pro356Thr) rs756204684
NM_001371596.2(MFSD8):c.106T>C (p.Trp36Arg) rs200001979
NM_001371596.2(MFSD8):c.1072G>A (p.Gly358Arg) rs781391960
NM_001371596.2(MFSD8):c.1093C>G (p.Gln365Glu) rs904329013
NM_001371596.2(MFSD8):c.1094A>G (p.Gln365Arg)
NM_001371596.2(MFSD8):c.1096T>C (p.Trp366Arg)
NM_001371596.2(MFSD8):c.1103-10_1103-6del rs1212979817
NM_001371596.2(MFSD8):c.1103-16G>A
NM_001371596.2(MFSD8):c.1103A>G (p.Asp368Gly)
NM_001371596.2(MFSD8):c.1106T>C (p.Leu369Ser) rs2148840460
NM_001371596.2(MFSD8):c.1109A>T (p.His370Leu) rs1578794999
NM_001371596.2(MFSD8):c.110G>A (p.Arg37Lys)
NM_001371596.2(MFSD8):c.110G>T (p.Arg37Ile) rs915454873
NM_001371596.2(MFSD8):c.1112A>G (p.Asn371Ser)
NM_001371596.2(MFSD8):c.1120A>G (p.Ile374Val) rs1736367637
NM_001371596.2(MFSD8):c.112T>G (p.Ser38Ala)
NM_001371596.2(MFSD8):c.1135T>A (p.Phe379Ile)
NM_001371596.2(MFSD8):c.1151T>C (p.Ile384Thr)
NM_001371596.2(MFSD8):c.115A>G (p.Ile39Val) rs201739608
NM_001371596.2(MFSD8):c.115A>T (p.Ile39Phe) rs201739608
NM_001371596.2(MFSD8):c.1161G>C (p.Trp387Cys)
NM_001371596.2(MFSD8):c.1168C>G (p.Pro390Ala) rs767262517
NM_001371596.2(MFSD8):c.1171A>G (p.Met391Val)
NM_001371596.2(MFSD8):c.1172T>C (p.Met391Thr)
NM_001371596.2(MFSD8):c.1176A>C (p.Glu392Asp)
NM_001371596.2(MFSD8):c.1178A>T (p.Asp393Val) rs762336516
NM_001371596.2(MFSD8):c.1190G>T (p.Arg397Ile) rs1736357135
NM_001371596.2(MFSD8):c.1196C>T (p.Thr399Ile)
NM_001371596.2(MFSD8):c.119G>C (p.Arg40Thr)
NM_001371596.2(MFSD8):c.1208T>A (p.Ile403Asn)
NM_001371596.2(MFSD8):c.1208T>C (p.Ile403Thr)
NM_001371596.2(MFSD8):c.1217C>G (p.Ala406Gly)
NM_001371596.2(MFSD8):c.1225C>G (p.Leu409Val)
NM_001371596.2(MFSD8):c.1231A>G (p.Thr411Ala) rs755570201
NM_001371596.2(MFSD8):c.1234_1235inv (p.Pro412Gly)
NM_001371596.2(MFSD8):c.1236G>A (p.Pro412=)
NM_001371596.2(MFSD8):c.1249G>A (p.Ala417Thr)
NM_001371596.2(MFSD8):c.1267G>C (p.Ala423Pro)
NM_001371596.2(MFSD8):c.1278A>G (p.Ile426Met) rs769272117
NM_001371596.2(MFSD8):c.1280G>T (p.Gly427Val)
NM_001371596.2(MFSD8):c.1291C>G (p.Pro431Ala) rs2148839575
NM_001371596.2(MFSD8):c.1310C>A (p.Ser437Tyr) rs1464046484
NM_001371596.2(MFSD8):c.1318C>G (p.Leu440Val) rs879270594
NM_001371596.2(MFSD8):c.1378T>C (p.Ser460Pro)
NM_001371596.2(MFSD8):c.1387G>A (p.Gly463Arg)
NM_001371596.2(MFSD8):c.1388G>A (p.Gly463Glu)
NM_001371596.2(MFSD8):c.1393C>T (p.Arg465Trp) rs1043984708
NM_001371596.2(MFSD8):c.1399C>A (p.Leu467Ile) rs754100928
NM_001371596.2(MFSD8):c.1403G>A (p.Gly468Glu) rs1560715852
NM_001371596.2(MFSD8):c.1408A>G (p.Met470Val) rs764549054
NM_001371596.2(MFSD8):c.1415T>A (p.Ile472Asn)
NM_001371596.2(MFSD8):c.1417A>G (p.Ser473Gly) rs1736228639
NM_001371596.2(MFSD8):c.1418G>A (p.Ser473Asn)
NM_001371596.2(MFSD8):c.1420C>G (p.Gln474Glu)
NM_001371596.2(MFSD8):c.1427A>G (p.Tyr476Cys) rs1291422135
NM_001371596.2(MFSD8):c.1429G>A (p.Ala477Thr) rs878855229
NM_001371596.2(MFSD8):c.1433A>T (p.His478Leu) rs1736225136
NM_001371596.2(MFSD8):c.1434C>A (p.His478Gln) rs2148837142
NM_001371596.2(MFSD8):c.1439G>T (p.Gly480Val) rs2148837121
NM_001371596.2(MFSD8):c.1441C>G (p.Pro481Ala)
NM_001371596.2(MFSD8):c.1458_1459delinsAA (p.Ser486_Leu487delinsArgMet)
NM_001371596.2(MFSD8):c.145A>G (p.Ser49Gly)
NM_001371596.2(MFSD8):c.1464G>A (p.Val488=)
NM_001371596.2(MFSD8):c.1470A>G (p.Gly490=) rs1477527807
NM_001371596.2(MFSD8):c.1474A>G (p.Ile492Val)
NM_001371596.2(MFSD8):c.1480C>T (p.Leu494Phe)
NM_001371596.2(MFSD8):c.148A>T (p.Ser50Cys) rs1355810376
NM_001371596.2(MFSD8):c.1490C>T (p.Thr497Ile)
NM_001371596.2(MFSD8):c.14G>A (p.Arg5Gln) rs139409959
NM_001371596.2(MFSD8):c.1509C>A (p.Tyr503Ter)
NM_001371596.2(MFSD8):c.1511A>G (p.Lys504Arg) rs1736213182
NM_001371596.2(MFSD8):c.1516C>G (p.Leu506Val) rs570757797
NM_001371596.2(MFSD8):c.1517T>C (p.Leu506Pro) rs1736211859
NM_001371596.2(MFSD8):c.1521T>G (p.Ile507Met) rs779560159
NM_001371596.2(MFSD8):c.1534A>G (p.Arg512Gly) rs745541140
NM_001371596.2(MFSD8):c.153A>G (p.Val51=) rs587781037
NM_001371596.2(MFSD8):c.154+4_154+7del
NM_001371596.2(MFSD8):c.154G>A (p.Gly52Arg)
NM_001371596.2(MFSD8):c.1557A>C (p.Ter519Tyr) rs2148836666
NM_001371596.2(MFSD8):c.161del (p.Ser54fs) rs1560764227
NM_001371596.2(MFSD8):c.163G>A (p.Val55Ile)
NM_001371596.2(MFSD8):c.16A>C (p.Asn6His)
NM_001371596.2(MFSD8):c.170T>C (p.Met57Thr) rs895772342
NM_001371596.2(MFSD8):c.173T>C (p.Met58Thr) rs1578944380
NM_001371596.2(MFSD8):c.174G>T (p.Met58Ile)
NM_001371596.2(MFSD8):c.17A>C (p.Asn6Thr) rs2149008801
NM_001371596.2(MFSD8):c.195A>G (p.Gln65=) rs2148943646
NM_001371596.2(MFSD8):c.235G>C (p.Val79Leu) rs749244700
NM_001371596.2(MFSD8):c.235G>T (p.Val79Phe) rs749244700
NM_001371596.2(MFSD8):c.23G>C (p.Ser8Thr) rs780548594
NM_001371596.2(MFSD8):c.240T>G (p.Ile80Met) rs1578912301
NM_001371596.2(MFSD8):c.245C>T (p.Ser82Leu) rs2148922530
NM_001371596.2(MFSD8):c.248A>G (p.Tyr83Cys) rs1740619758
NM_001371596.2(MFSD8):c.251G>A (p.Ser84Asn)
NM_001371596.2(MFSD8):c.268G>C (p.Ala90Pro) rs1553950970
NM_001371596.2(MFSD8):c.29A>G (p.Gln10Arg)
NM_001371596.2(MFSD8):c.319C>G (p.Leu107Val)
NM_001371596.2(MFSD8):c.32A>G (p.Glu11Gly) rs1485138561
NM_001371596.2(MFSD8):c.356G>A (p.Cys119Tyr)
NM_001371596.2(MFSD8):c.358C>G (p.Leu120Val)
NM_001371596.2(MFSD8):c.362A>C (p.Tyr121Ser) rs118203978
NM_001371596.2(MFSD8):c.362A>G (p.Tyr121Cys) rs118203978
NM_001371596.2(MFSD8):c.373C>T (p.His125Tyr) rs1560754109
NM_001371596.2(MFSD8):c.379C>A (p.Pro127Thr)
NM_001371596.2(MFSD8):c.37C>T (p.Leu13Phe) rs150892838
NM_001371596.2(MFSD8):c.380C>T (p.Pro127Leu)
NM_001371596.2(MFSD8):c.415C>T (p.Arg139Cys) rs993001712
NM_001371596.2(MFSD8):c.422T>C (p.Leu141Ser) rs1740590363
NM_001371596.2(MFSD8):c.423G>T (p.Leu141Phe) rs1462440516
NM_001371596.2(MFSD8):c.428G>A (p.Gly143Glu)
NM_001371596.2(MFSD8):c.433G>A (p.Gly145Arg)
NM_001371596.2(MFSD8):c.439+4A>G rs751782767
NM_001371596.2(MFSD8):c.439+5G>A
NM_001371596.2(MFSD8):c.439+6G>A
NM_001371596.2(MFSD8):c.439+6G>T
NM_001371596.2(MFSD8):c.440-7T>G
NM_001371596.2(MFSD8):c.454G>T (p.Val152Phe) rs2148915793
NM_001371596.2(MFSD8):c.459A>T (p.Arg153Ser)
NM_001371596.2(MFSD8):c.466A>T (p.Thr156Ser)
NM_001371596.2(MFSD8):c.467C>T (p.Thr156Ile) rs1740291651
NM_001371596.2(MFSD8):c.46G>A (p.Asp16Asn) rs752624076
NM_001371596.2(MFSD8):c.475G>T (p.Ala159Ser) rs1740290508
NM_001371596.2(MFSD8):c.496A>G (p.Thr166Ala)
NM_001371596.2(MFSD8):c.4G>A (p.Ala2Thr)
NM_001371596.2(MFSD8):c.503C>T (p.Ser168Phe)
NM_001371596.2(MFSD8):c.511A>G (p.Asn171Asp)
NM_001371596.2(MFSD8):c.513C>A (p.Asn171Lys)
NM_001371596.2(MFSD8):c.514A>G (p.Ile172Val) rs540305093
NM_001371596.2(MFSD8):c.519C>T (p.Ser173=)
NM_001371596.2(MFSD8):c.529G>A (p.Ala177Thr) rs1560751131
NM_001371596.2(MFSD8):c.52C>T (p.Pro18Ser) rs2149008240
NM_001371596.2(MFSD8):c.541A>C (p.Ile181Leu) rs770057458
NM_001371596.2(MFSD8):c.541A>G (p.Ile181Val) rs770057458
NM_001371596.2(MFSD8):c.553+3A>G
NM_001371596.2(MFSD8):c.553G>C (p.Val185Leu) rs1740277571
NM_001371596.2(MFSD8):c.554-17A>G
NM_001371596.2(MFSD8):c.562A>G (p.Thr188Ala) rs1739868697
NM_001371596.2(MFSD8):c.562A>T (p.Thr188Ser) rs1739868697
NM_001371596.2(MFSD8):c.563C>T (p.Thr188Ile)
NM_001371596.2(MFSD8):c.572C>T (p.Thr191Ile)
NM_001371596.2(MFSD8):c.578T>A (p.Leu193His) rs914063167
NM_001371596.2(MFSD8):c.598T>C (p.Trp200Arg) rs2148907604
NM_001371596.2(MFSD8):c.5C>T (p.Ala2Val) rs867524398
NM_001371596.2(MFSD8):c.616C>T (p.Gln206Ter) rs1209722075
NM_001371596.2(MFSD8):c.62+4A>C
NM_001371596.2(MFSD8):c.621A>G (p.Ile207Met)
NM_001371596.2(MFSD8):c.631A>G (p.Thr211Ala)
NM_001371596.2(MFSD8):c.658C>G (p.Leu220Val) rs142063476
NM_001371596.2(MFSD8):c.662G>A (p.Gly221Glu) rs2148907334
NM_001371596.2(MFSD8):c.670A>C (p.Asn224His)
NM_001371596.2(MFSD8):c.674T>G (p.Ile225Ser)
NM_001371596.2(MFSD8):c.675T>C (p.Ile225=) rs1739848967
NM_001371596.2(MFSD8):c.680T>C (p.Leu227Pro) rs2148907246
NM_001371596.2(MFSD8):c.695T>C (p.Leu232Pro)
NM_001371596.2(MFSD8):c.695T>G (p.Leu232Arg)
NM_001371596.2(MFSD8):c.704A>T (p.His235Leu) rs886059070
NM_001371596.2(MFSD8):c.718T>C (p.Ser240Pro)
NM_001371596.2(MFSD8):c.724A>G (p.Arg242Gly)
NM_001371596.2(MFSD8):c.72C>A (p.Asp24Glu) rs775812921
NM_001371596.2(MFSD8):c.748G>C (p.Glu250Gln)
NM_001371596.2(MFSD8):c.753A>G (p.Glu251=)
NM_001371596.2(MFSD8):c.754G>T (p.Ala252Ser) rs1739583922
NM_001371596.2(MFSD8):c.773A>T (p.Gln258Leu) rs2148882430
NM_001371596.2(MFSD8):c.776T>A (p.Val259Asp) rs1553947509
NM_001371596.2(MFSD8):c.782A>C (p.Gln261Pro)
NM_001371596.2(MFSD8):c.7G>A (p.Gly3Ser) rs773799172
NM_001371596.2(MFSD8):c.809T>C (p.Val270Ala) rs200284184
NM_001371596.2(MFSD8):c.818A>G (p.Asn273Ser)
NM_001371596.2(MFSD8):c.820G>A (p.Val274Ile) rs745354809
NM_001371596.2(MFSD8):c.821T>C (p.Val274Ala)
NM_001371596.2(MFSD8):c.850G>T (p.Ala284Ser)
NM_001371596.2(MFSD8):c.863+2dup
NM_001371596.2(MFSD8):c.87A>G (p.Glu29=)
NM_001371596.2(MFSD8):c.885G>A (p.Met295Ile)
NM_001371596.2(MFSD8):c.887A>T (p.Asp296Val)
NM_001371596.2(MFSD8):c.889A>C (p.Met297Leu) rs1419909769
NM_001371596.2(MFSD8):c.889A>G (p.Met297Val)
NM_001371596.2(MFSD8):c.901A>G (p.Thr301Ala)
NM_001371596.2(MFSD8):c.902C>A (p.Thr301Asn)
NM_001371596.2(MFSD8):c.910C>A (p.Gln304Lys) rs1737985759
NM_001371596.2(MFSD8):c.913G>A (p.Ala305Thr)
NM_001371596.2(MFSD8):c.917T>C (p.Val306Ala)
NM_001371596.2(MFSD8):c.926A>G (p.Asn309Ser) rs1737983004
NM_001371596.2(MFSD8):c.929G>C (p.Gly310Ala) rs118203975
NM_001371596.2(MFSD8):c.935T>C (p.Ile312Thr) rs556875684
NM_001371596.2(MFSD8):c.944C>A (p.Ala315Asp) rs767331120
NM_001371596.2(MFSD8):c.958G>C (p.Ala320Pro) rs1737976227
NM_001371596.2(MFSD8):c.995A>C (p.Lys332Thr) rs2148873265
NM_001371596.2(MFSD8):c.998+13T>C rs1737968072
NM_001371596.2(MFSD8):c.998+4A>G rs796052745
NM_001371596.2(MFSD8):c.999-4A>G
NM_001371596.2(MFSD8):c.999G>A (p.Lys333=) rs1057520312
NM_001909.5(CTSD):c.*133G>A rs1276388326
NM_001909.5(CTSD):c.*342C>T rs1050822
NM_001909.5(CTSD):c.*375A>G rs916854972
NM_001909.5(CTSD):c.*555C>A rs539003212
NM_001909.5(CTSD):c.*574C>T rs886048061
NM_001909.5(CTSD):c.*58C>T rs886048063
NM_001909.5(CTSD):c.*651C>T rs991617803
NM_001909.5(CTSD):c.*98G>A rs376087786
NM_001909.5(CTSD):c.1009G>T (p.Ala337Ser) rs147800688
NM_001909.5(CTSD):c.1012A>C (p.Ile338Leu)
NM_001909.5(CTSD):c.1034A>G (p.Lys345Arg) rs1845759906
NM_001909.5(CTSD):c.1064C>T (p.Thr355Met)
NM_001909.5(CTSD):c.106A>G (p.Met36Val)
NM_001909.5(CTSD):c.1072-1G>A
NM_001909.5(CTSD):c.1080G>C (p.Gln360His) rs2133657278
NM_001909.5(CTSD):c.1081G>T (p.Ala361Ser) rs1845756287
NM_001909.5(CTSD):c.1105G>A (p.Gly369Ser) rs1845755979
NM_001909.5(CTSD):c.110C>T (p.Ser37Leu)
NM_001909.5(CTSD):c.1111A>G (p.Met371Val)
NM_001909.5(CTSD):c.1119G>C (p.Met373Ile) rs796052398
NM_001909.5(CTSD):c.1119G>T (p.Met373Ile)
NM_001909.5(CTSD):c.111G>C (p.Ser37=) rs535140505
NM_001909.5(CTSD):c.1129C>A (p.Pro377Thr)
NM_001909.5(CTSD):c.1136G>A (p.Ser379Asn) rs1177483130
NM_001909.5(CTSD):c.1142del (p.Pro381fs)
NM_001909.5(CTSD):c.1146_1147del (p.Trp383fs) rs2133657191
NM_001909.5(CTSD):c.1147_1148del (p.Trp383fs) rs2133657189
NM_001909.5(CTSD):c.115G>A (p.Val39Ile)
NM_001909.5(CTSD):c.115G>C (p.Val39Leu)
NM_001909.5(CTSD):c.1171G>A (p.Gly391Ser)
NM_001909.5(CTSD):c.1174C>T (p.Arg392Cys)
NM_001909.5(CTSD):c.1175G>A (p.Arg392His) rs374531851
NM_001909.5(CTSD):c.1175G>T (p.Arg392Leu) rs374531851
NM_001909.5(CTSD):c.1196G>A (p.Arg399His) rs797045138
NM_001909.5(CTSD):c.1199ACA[2] (p.Asn402del) rs2133657126
NM_001909.5(CTSD):c.1204A>G (p.Asn402Asp)
NM_001909.5(CTSD):c.1210G>T (p.Val404Leu) rs750489880
NM_001909.5(CTSD):c.1213G>A (p.Gly405Ser)
NM_001909.5(CTSD):c.1228G>C (p.Ala410Pro) rs1316535195
NM_001909.5(CTSD):c.1229C>G (p.Ala410Gly) rs1845753565
NM_001909.5(CTSD):c.1234C>T (p.Leu412Phe)
NM_001909.5(CTSD):c.1235T>G (p.Leu412Arg) rs1554962202
NM_001909.5(CTSD):c.130G>A (p.Glu44Lys)
NM_001909.5(CTSD):c.132G>C (p.Glu44Asp)
NM_001909.5(CTSD):c.133G>A (p.Asp45Asn) rs1845875103
NM_001909.5(CTSD):c.141T>G (p.Ile47Met) rs545927559
NM_001909.5(CTSD):c.14G>T (p.Ser5Ile) rs764386803
NM_001909.5(CTSD):c.152C>G (p.Pro51Arg) rs2133666262
NM_001909.5(CTSD):c.161A>G (p.Lys54Arg) rs1565023298
NM_001909.5(CTSD):c.166T>C (p.Ser56Pro)
NM_001909.5(CTSD):c.16C>T (p.Leu6Phe) rs1590909993
NM_001909.5(CTSD):c.173C>A (p.Ala58Glu)
NM_001909.5(CTSD):c.182C>T (p.Ala61Val) rs868621027
NM_001909.5(CTSD):c.184G>T (p.Val62Leu) rs756892066
NM_001909.5(CTSD):c.190G>C (p.Glu64Gln) rs539823013
NM_001909.5(CTSD):c.1A>G (p.Met1Val)
NM_001909.5(CTSD):c.203C>T (p.Pro68Leu) rs11555044
NM_001909.5(CTSD):c.211C>T (p.Leu71Phe)
NM_001909.5(CTSD):c.22C>T (p.Pro8Ser) rs1590909988
NM_001909.5(CTSD):c.253A>G (p.Ile85Val) rs1565022412
NM_001909.5(CTSD):c.256G>A (p.Gly86Arg) rs1845850566
NM_001909.5(CTSD):c.262C>G (p.Pro88Ala) rs796052400
NM_001909.5(CTSD):c.262C>T (p.Pro88Ser)
NM_001909.5(CTSD):c.269A>G (p.Gln90Arg)
NM_001909.5(CTSD):c.271T>C (p.Cys91Arg) rs1042278213
NM_001909.5(CTSD):c.285C>T (p.Val95=) rs1845849997
NM_001909.5(CTSD):c.28G>T (p.Ala10Ser) rs1845913637
NM_001909.5(CTSD):c.293C>G (p.Thr98Arg) rs748897941
NM_001909.5(CTSD):c.304A>C (p.Asn102His) rs2133664207
NM_001909.5(CTSD):c.307C>G (p.Leu103Val) rs750415207
NM_001909.5(CTSD):c.313G>A (p.Val105Ile) rs897944478
NM_001909.5(CTSD):c.315C>A (p.Val105=) rs1845849420
NM_001909.5(CTSD):c.343A>G (p.Ile115Val)
NM_001909.5(CTSD):c.347C>T (p.Ala116Val)
NM_001909.5(CTSD):c.353-6G>A rs1565022065
NM_001909.5(CTSD):c.355A>G (p.Ile119Val)
NM_001909.5(CTSD):c.358C>T (p.His120Tyr) rs1381781298
NM_001909.5(CTSD):c.370A>G (p.Asn124Asp) rs1590907227
NM_001909.5(CTSD):c.378C>A (p.Asp126Glu)
NM_001909.5(CTSD):c.394G>A (p.Val132Met) rs770820791
NM_001909.5(CTSD):c.407C>T (p.Thr136Ile)
NM_001909.5(CTSD):c.409T>A (p.Ser137Thr) rs1845842497
NM_001909.5(CTSD):c.431C>T (p.Ser144Leu) rs754147413
NM_001909.5(CTSD):c.437G>T (p.Ser146Ile) rs911813557
NM_001909.5(CTSD):c.445G>A (p.Gly149Arg) rs762336399
NM_001909.5(CTSD):c.463A>T (p.Thr155Ser) rs764778708
NM_001909.5(CTSD):c.464_465delinsGC (p.Thr155Ser) rs1845841625
NM_001909.5(CTSD):c.465_466inv (p.Val156Met)
NM_001909.5(CTSD):c.471+6T>G rs2133663481
NM_001909.5(CTSD):c.472G>A (p.Val158Met)
NM_001909.5(CTSD):c.478T>C (p.Cys160Arg) rs1845825044
NM_001909.5(CTSD):c.493T>A (p.Ser165Thr)
NM_001909.5(CTSD):c.497C>T (p.Ala166Val) rs796052396
NM_001909.5(CTSD):c.49C>T (p.Pro17Ser) rs1845913488
NM_001909.5(CTSD):c.502G>T (p.Ala168Ser) rs1554962647
NM_001909.5(CTSD):c.508G>A (p.Gly170Ser)
NM_001909.5(CTSD):c.509G>A (p.Gly170Asp) rs1845824451
NM_001909.5(CTSD):c.52G>C (p.Ala18Pro) rs796052403
NM_001909.5(CTSD):c.555G>T (p.Gln185His)
NM_001909.5(CTSD):c.566C>T (p.Thr189Ile) rs1554962634
NM_001909.5(CTSD):c.571A>G (p.Ile191Val) rs750166391
NM_001909.5(CTSD):c.574G>A (p.Ala192Thr) rs767282477
NM_001909.5(CTSD):c.586G>A (p.Asp196Asn) rs1388675826
NM_001909.5(CTSD):c.608A>T (p.Tyr203Phe) rs1590906292
NM_001909.5(CTSD):c.613C>T (p.Arg205Cys) rs769825646
NM_001909.5(CTSD):c.616A>G (p.Ile206Val) rs2133661989
NM_001909.5(CTSD):c.646G>A (p.Asp216Asn) rs1235872591
NM_001909.5(CTSD):c.64G>T (p.Val22Phe) rs1060502503
NM_001909.5(CTSD):c.657G>T (p.Met219Ile)
NM_001909.5(CTSD):c.659A>C (p.Gln220Pro) rs886048066
NM_001909.5(CTSD):c.660G>C (p.Gln220His) rs762797920
NM_001909.5(CTSD):c.665A>G (p.Lys222Arg) rs1845822086
NM_001909.5(CTSD):c.670G>A (p.Val224Met)
NM_001909.5(CTSD):c.671T>A (p.Val224Glu)
NM_001909.5(CTSD):c.68+5A>C
NM_001909.5(CTSD):c.683TCT[1] (p.Phe229del) rs1057519591
NM_001909.5(CTSD):c.689_691del (p.Ser230del)
NM_001909.5(CTSD):c.69-12C>A rs764025297
NM_001909.5(CTSD):c.692_694del (p.Phe231del) rs1478615059
NM_001909.5(CTSD):c.704+6C>A rs370847523
NM_001909.5(CTSD):c.70A>T (p.Ile24Phe) rs1845876465
NM_001909.5(CTSD):c.725G>T (p.Gly242Val)
NM_001909.5(CTSD):c.72C>G (p.Ile24Met)
NM_001909.5(CTSD):c.767A>G (p.Lys256Arg)
NM_001909.5(CTSD):c.797G>A (p.Arg266His)
NM_001909.5(CTSD):c.799A>C (p.Lys267Gln) rs749091423
NM_001909.5(CTSD):c.827+3G>A
NM_001909.5(CTSD):c.827+5G>A
NM_001909.5(CTSD):c.828-19_828-18delinsCT
NM_001909.5(CTSD):c.828-3C>A
NM_001909.5(CTSD):c.829G>T (p.Val277Leu)
NM_001909.5(CTSD):c.82A>G (p.Lys28Glu)
NM_001909.5(CTSD):c.832G>C (p.Glu278Gln) rs1402574017
NM_001909.5(CTSD):c.833_835dup (p.Glu278_Val279insGlu)
NM_001909.5(CTSD):c.834G>C (p.Glu278Asp)
NM_001909.5(CTSD):c.845G>T (p.Gly282Val)
NM_001909.5(CTSD):c.851C>G (p.Thr284Ser)
NM_001909.5(CTSD):c.863A>G (p.Glu288Gly)
NM_001909.5(CTSD):c.887C>G (p.Thr296Arg)
NM_001909.5(CTSD):c.8C>A (p.Pro3His)
NM_001909.5(CTSD):c.8C>G (p.Pro3Arg)
NM_001909.5(CTSD):c.904G>T (p.Val302Leu) rs749491748
NM_001909.5(CTSD):c.906G>A (p.Val302=)
NM_001909.5(CTSD):c.908_913del (p.Gly303_Pro304del)
NM_001909.5(CTSD):c.908_916del (p.Gly303_Val305del)
NM_001909.5(CTSD):c.918T>G (p.Asp306Glu)
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys) rs373699222
NM_001909.5(CTSD):c.940G>A (p.Ala314Thr) rs886048065
NM_001909.5(CTSD):c.94A>G (p.Ile32Val)
NM_001909.5(CTSD):c.952G>A (p.Val318Met)
NM_001909.5(CTSD):c.968G>A (p.Gly323Asp) rs761766384
NM_001909.5(CTSD):c.970G>A (p.Glu324Lys)
NM_001909.5(CTSD):c.972+4A>G rs2133657784
NM_001909.5(CTSD):c.972+4_972+5dup rs1386489811
NM_001909.5(CTSD):c.973-8C>A rs886048064
NM_001909.5(CTSD):c.976A>G (p.Met326Val) rs1425884068
NM_001909.5(CTSD):c.97C>T (p.Arg33Cys)
NM_001909.5(CTSD):c.982C>T (p.Pro328Ser) rs796052397
NM_001909.5(CTSD):c.98G>A (p.Arg33His)
NM_001909.5(CTSD):c.993G>C (p.Lys331Asn) rs1181418072
NM_001909.5(CTSD):c.999C>A (p.Ser333=) rs755867394
NM_002087.4(GRN):c.-8+5G>A
NM_002087.4(GRN):c.1001C>T (p.Thr334Ile)
NM_002087.4(GRN):c.1004G>A (p.Cys335Tyr)
NM_002087.4(GRN):c.1006G>C (p.Glu336Gln)
NM_002087.4(GRN):c.1010A>G (p.Gln337Arg)
NM_002087.4(GRN):c.1011G>C (p.Gln337His)
NM_002087.4(GRN):c.1019A>G (p.His340Arg) rs775196555
NM_002087.4(GRN):c.101C>A (p.Pro34His)
NM_002087.4(GRN):c.101C>T (p.Pro34Leu)
NM_002087.4(GRN):c.1035G>A (p.Met345Ile)
NM_002087.4(GRN):c.1036_1038del (p.Glu346del) rs751373342
NM_002087.4(GRN):c.1059C>G (p.Ser353Arg)
NM_002087.4(GRN):c.1076C>T (p.Ala359Val)
NM_002087.4(GRN):c.1081A>G (p.Lys361Glu)
NM_002087.4(GRN):c.1102_1104del (p.Asn368del)
NM_002087.4(GRN):c.110C>T (p.Ala37Val) rs1248005591
NM_002087.4(GRN):c.1117C>A (p.Pro373Thr)
NM_002087.4(GRN):c.1120TCC[1] (p.Ser375del) rs754862784
NM_002087.4(GRN):c.1152G>T (p.Gly384=) rs2143342232
NM_002087.4(GRN):c.1156_1179del (p.Trp386_Glu393del)
NM_002087.4(GRN):c.116A>T (p.Tyr39Phe)
NM_002087.4(GRN):c.1171A>G (p.Ile391Val)
NM_002087.4(GRN):c.1179+4_1179+8del rs752440929
NM_002087.4(GRN):c.1179+6T>C rs765761482
NM_002087.4(GRN):c.1179G>C (p.Glu393Asp)
NM_002087.4(GRN):c.1192T>C (p.Ser398Pro)
NM_002087.4(GRN):c.1204C>G (p.His402Asp)
NM_002087.4(GRN):c.1213C>T (p.Pro405Ser)
NM_002087.4(GRN):c.1240G>A (p.Gly414Arg)
NM_002087.4(GRN):c.1253G>C (p.Arg418Pro)
NM_002087.4(GRN):c.1259G>A (p.Ser420Asn)
NM_002087.4(GRN):c.1260C>G (p.Ser420Arg)
NM_002087.4(GRN):c.1261G>A (p.Glu421Lys) rs199934385
NM_002087.4(GRN):c.1267G>A (p.Val423Met)
NM_002087.4(GRN):c.1281G>T (p.Glu427Asp)
NM_002087.4(GRN):c.1295G>A (p.Arg432His)
NM_002087.4(GRN):c.1316C>G (p.Pro439Arg)
NM_002087.4(GRN):c.1326C>G (p.Ile442Met)
NM_002087.4(GRN):c.1327G>C (p.Gly443Arg)
NM_002087.4(GRN):c.1337A>G (p.Gln446Arg)
NM_002087.4(GRN):c.1337A>T (p.Gln446Leu)
NM_002087.4(GRN):c.1343C>T (p.Thr448Ile)
NM_002087.4(GRN):c.1347C>G (p.Ser449Arg)
NM_002087.4(GRN):c.1353G>A (p.Pro451=)
NM_002087.4(GRN):c.1354_1374del (p.Val452_Pro458del)
NM_002087.4(GRN):c.1355T>A (p.Val452Glu) rs759134554
NM_002087.4(GRN):c.1355T>C (p.Val452Ala)
NM_002087.4(GRN):c.1373C>G (p.Pro458Arg) rs63750537
NM_002087.4(GRN):c.139G>A (p.Asp47Asn) rs1239690384
NM_002087.4(GRN):c.1413T>C (p.His471=)
NM_002087.4(GRN):c.1423T>C (p.Cys475Arg)
NM_002087.4(GRN):c.1426G>A (p.Glu476Lys)
NM_002087.4(GRN):c.1438C>T (p.His480Tyr) rs770058074
NM_002087.4(GRN):c.1468G>A (p.Val490Met) rs886053006
NM_002087.4(GRN):c.147G>C (p.Trp49Cys)
NM_002087.4(GRN):c.1483T>C (p.Cys495Arg)
NM_002087.4(GRN):c.1499T>C (p.Val500Ala) rs1256051695
NM_002087.4(GRN):c.149C>T (p.Pro50Leu)
NM_002087.4(GRN):c.1510C>G (p.Pro504Ala) rs1313083314
NM_002087.4(GRN):c.1511C>T (p.Pro504Leu)
NM_002087.4(GRN):c.1528C>T (p.Arg510Cys)
NM_002087.4(GRN):c.1529G>A (p.Arg510His)
NM_002087.4(GRN):c.1561T>G (p.Cys521Gly)
NM_002087.4(GRN):c.1564G>A (p.Gly522Arg)
NM_002087.4(GRN):c.1570G>C (p.Gly524Arg)
NM_002087.4(GRN):c.1571G>T (p.Gly524Val)
NM_002087.4(GRN):c.1595C>A (p.Thr532Asn)
NM_002087.4(GRN):c.1600T>A (p.Cys534Ser)
NM_002087.4(GRN):c.1603C>T (p.Arg535Ter)
NM_002087.4(GRN):c.1606G>A (p.Asp536Asn)
NM_002087.4(GRN):c.160A>G (p.Ser54Gly) rs2143326730
NM_002087.4(GRN):c.1613G>A (p.Arg538Gln)
NM_002087.4(GRN):c.1630T>C (p.Cys544Arg)
NM_002087.4(GRN):c.1639C>T (p.Arg547Cys)
NM_002087.4(GRN):c.1642C>T (p.Gln548Ter)
NM_002087.4(GRN):c.1664G>A (p.Arg555Gln)
NM_002087.4(GRN):c.1669C>T (p.His557Tyr) rs1415695846
NM_002087.4(GRN):c.1671C>G (p.His557Gln)
NM_002087.4(GRN):c.1690C>T (p.Arg564Cys)
NM_002087.4(GRN):c.1691G>A (p.Arg564His) rs971443926
NM_002087.4(GRN):c.1696G>A (p.Ala566Thr)
NM_002087.4(GRN):c.1706G>A (p.Gly569Asp)
NM_002087.4(GRN):c.1708A>G (p.Thr570Ala)
NM_002087.4(GRN):c.170T>G (p.Leu57Arg) rs545762769
NM_002087.4(GRN):c.1720C>T (p.Arg574Cys)
NM_002087.4(GRN):c.1725_1726delinsAA (p.Glu576Lys)
NM_002087.4(GRN):c.1730C>T (p.Ala577Val)
NM_002087.4(GRN):c.1733C>T (p.Pro578Leu)
NM_002087.4(GRN):c.1734G>A (p.Pro578=)
NM_002087.4(GRN):c.1744G>A (p.Ala582Thr)
NM_002087.4(GRN):c.1759C>T (p.Pro587Ser)
NM_002087.4(GRN):c.1760del (p.Pro587fs)
NM_002087.4(GRN):c.176G>C (p.Gly59Ala)
NM_002087.4(GRN):c.1774C>G (p.Leu592Val)
NM_002087.4(GRN):c.1775T>C (p.Leu592Pro)
NM_002087.4(GRN):c.182G>A (p.Cys61Tyr)
NM_002087.4(GRN):c.18C>G (p.Ser6Arg)
NM_002087.4(GRN):c.190G>A (p.Asp64Asn)
NM_002087.4(GRN):c.19T>G (p.Trp7Gly)
NM_002087.4(GRN):c.202T>C (p.Ser68Pro)
NM_002087.4(GRN):c.206C>A (p.Ala69Asp)
NM_002087.4(GRN):c.212A>G (p.His71Arg)
NM_002087.4(GRN):c.215C>T (p.Ser72Phe)
NM_002087.4(GRN):c.258C>G (p.Phe86Leu)
NM_002087.4(GRN):c.263A>C (p.Glu88Ala)
NM_002087.4(GRN):c.264+3G>T
NM_002087.4(GRN):c.264+6C>T
NM_002087.4(GRN):c.26C>T (p.Ala9Val)
NM_002087.4(GRN):c.277G>A (p.Gly93Arg)
NM_002087.4(GRN):c.278G>A (p.Gly93Glu)
NM_002087.4(GRN):c.301C>T (p.Arg101Trp) rs543578531
NM_002087.4(GRN):c.305G>A (p.Gly102Asp)
NM_002087.4(GRN):c.30A>C (p.Leu10Phe)
NM_002087.4(GRN):c.332C>T (p.Ser111Phe) rs1354832051
NM_002087.4(GRN):c.348A>C (p.Ser116=)
NM_002087.4(GRN):c.349+15T>A
NM_002087.4(GRN):c.350G>A (p.Gly117Asp) rs758131649
NM_002087.4(GRN):c.352AAC[1] (p.Asn119del) rs758168578
NM_002087.4(GRN):c.379C>G (p.Pro127Ala)
NM_002087.4(GRN):c.393C>A (p.Phe131Leu)
NM_002087.4(GRN):c.401C>T (p.Pro134Leu)
NM_002087.4(GRN):c.406T>G (p.Phe136Val)
NM_002087.4(GRN):c.413C>T (p.Thr138Met)
NM_002087.4(GRN):c.427G>T (p.Val143Phe) rs1194653265
NM_002087.4(GRN):c.430G>A (p.Asp144Asn)
NM_002087.4(GRN):c.456_457delinsAT (p.Met152_Pro153delinsIleSer) rs2143332050
NM_002087.4(GRN):c.47C>T (p.Ala16Val)
NM_002087.4(GRN):c.487C>T (p.His163Tyr)
NM_002087.4(GRN):c.493T>C (p.Cys165Arg) rs2143333047
NM_002087.4(GRN):c.50G>C (p.Gly17Ala)
NM_002087.4(GRN):c.520G>A (p.Val174Ile)
NM_002087.4(GRN):c.545C>G (p.Thr182Arg)
NM_002087.4(GRN):c.554A>G (p.His185Arg)
NM_002087.4(GRN):c.562G>A (p.Ala188Thr)
NM_002087.4(GRN):c.581A>G (p.Gln194Arg)
NM_002087.4(GRN):c.591C>G (p.Asn197Lys)
NM_002087.4(GRN):c.614C>T (p.Ser205Leu)
NM_002087.4(GRN):c.632C>T (p.Ala211Val)
NM_002087.4(GRN):c.640C>T (p.Arg214Trp)
NM_002087.4(GRN):c.641G>A (p.Arg214Gln) rs1211576020
NM_002087.4(GRN):c.650A>T (p.Asp217Val)
NM_002087.4(GRN):c.658A>G (p.Thr220Ala) rs63750683
NM_002087.4(GRN):c.665G>A (p.Cys222Tyr)
NM_002087.4(GRN):c.673C>T (p.Pro225Ser)
NM_002087.4(GRN):c.680G>A (p.Gly227Glu)
NM_002087.4(GRN):c.685T>C (p.Tyr229His)
NM_002087.4(GRN):c.691T>C (p.Cys231Arg)
NM_002087.4(GRN):c.694T>C (p.Cys232Arg)
NM_002087.4(GRN):c.701T>G (p.Met234Arg) rs2143335468
NM_002087.4(GRN):c.708+2dup rs2143335568
NM_002087.4(GRN):c.713C>T (p.Thr238Ile)
NM_002087.4(GRN):c.716G>T (p.Cys239Phe)
NM_002087.4(GRN):c.724G>C (p.Asp242His)
NM_002087.4(GRN):c.743C>T (p.Pro248Leu) rs63750344
NM_002087.4(GRN):c.751A>G (p.Thr251Ala)
NM_002087.4(GRN):c.752C>G (p.Thr251Ser)
NM_002087.4(GRN):c.773G>A (p.Ser258Asn) rs63751000
NM_002087.4(GRN):c.781C>T (p.Leu261Phe)
NM_002087.4(GRN):c.784T>C (p.Ser262Pro)
NM_002087.4(GRN):c.796G>A (p.Ala266Thr) rs747362041
NM_002087.4(GRN):c.796G>C (p.Ala266Pro) rs747362041
NM_002087.4(GRN):c.797C>T (p.Ala266Val)
NM_002087.4(GRN):c.7A>G (p.Thr3Ala) rs2048347394
NM_002087.4(GRN):c.808C>T (p.Leu270Phe) rs1567887059
NM_002087.4(GRN):c.817A>G (p.Lys273Glu)
NM_002087.4(GRN):c.824C>T (p.Pro275Leu)
NM_002087.4(GRN):c.834A>T (p.Thr278=)
NM_002087.4(GRN):c.835G>T (p.Val279Leu)
NM_002087.4(GRN):c.857T>C (p.Met286Thr)
NM_002087.4(GRN):c.86C>T (p.Ala29Val)
NM_002087.4(GRN):c.878G>A (p.Gly293Asp)
NM_002087.4(GRN):c.893G>A (p.Arg298His)
NM_002087.4(GRN):c.8C>G (p.Thr3Ser) rs375939802
NM_002087.4(GRN):c.8C>T (p.Thr3Ile)
NM_002087.4(GRN):c.932A>T (p.Gln311Leu)
NM_002087.4(GRN):c.933+5C>G
NM_002087.4(GRN):c.933+5C>T
NM_002087.4(GRN):c.935C>T (p.Ala312Val)
NM_002087.4(GRN):c.980C>T (p.Thr327Met)
NM_002087.4(GRN):c.998G>T (p.Gly333Val)
NM_002087.4(GRN):c.99C>A (p.Asp33Glu) rs63750742
NM_003793.4(CTSF):c.1045+4T>G
NM_003793.4(CTSF):c.1069T>C (p.Tyr357His)
NM_003793.4(CTSF):c.109C>G (p.Pro37Ala)
NM_003793.4(CTSF):c.1175C>T (p.Ala392Val)
NM_003793.4(CTSF):c.1198A>G (p.Ile400Val)
NM_003793.4(CTSF):c.1267C>T (p.Leu423Phe)
NM_003793.4(CTSF):c.1283T>C (p.Leu428Pro)
NM_003793.4(CTSF):c.1285A>G (p.Ile429Val)
NM_003793.4(CTSF):c.133T>C (p.Phe45Leu)
NM_003793.4(CTSF):c.1350del (p.Asn451fs) rs1565311637
NM_003793.4(CTSF):c.1399C>T (p.Arg467Cys)
NM_003793.4(CTSF):c.1439C>T (p.Ser480Leu) rs397514733
NM_003793.4(CTSF):c.160C>A (p.Arg54=) rs776443007
NM_003793.4(CTSF):c.206T>G (p.Val69Gly)
NM_003793.4(CTSF):c.245_256del (p.Ala82_Glu85del)
NM_003793.4(CTSF):c.269A>G (p.Asn90Ser)
NM_003793.4(CTSF):c.280G>A (p.Val94Met)
NM_003793.4(CTSF):c.473A>G (p.Asn158Ser)
NM_003793.4(CTSF):c.614G>A (p.Arg205Gln) rs142782021
NM_003793.4(CTSF):c.64G>T (p.Ala22Ser)
NM_003793.4(CTSF):c.76G>C (p.Ala26Pro)
NM_003793.4(CTSF):c.888G>T (p.Trp296Cys)
NM_003793.4(CTSF):c.955T>G (p.Ser319Ala) rs1857917135
NM_003793.4(CTSF):c.956C>T (p.Ser319Phe)
NM_003793.4(CTSF):c.95G>A (p.Trp32Ter)
NM_003793.4(CTSF):c.988G>A (p.Asp330Asn) rs750069810
NM_006493.2(CLN5):c.10_22delAACCTGCGCTTGG (p.Asn4Glyfs)
NM_006493.2(CLN5):c.1A>G (p.Met1Val) rs1268502139
NM_006493.2(CLN5):c.70G>C (p.Gly24Arg)
NM_006493.4(CLN5):c.*163G>A rs994401189
NM_006493.4(CLN5):c.*263A>T rs562972188
NM_006493.4(CLN5):c.-11G>A rs774598730
NM_006493.4(CLN5):c.-75C>G rs754544785
NM_006493.4(CLN5):c.-7C>A rs1555273557
NM_006493.4(CLN5):c.-94A>T rs767480061
NM_006493.4(CLN5):c.-96C>G rs773979248
NM_006493.4(CLN5):c.-97del rs765323914
NM_006493.4(CLN5):c.-98G>T rs769990158
NM_006493.4(CLN5):c.-99G>A rs202118652
NM_006493.4(CLN5):c.1000A>G (p.Met334Val) rs747998609
NM_006493.4(CLN5):c.1009C>G (p.Pro337Ala)
NM_006493.4(CLN5):c.1021A>G (p.Ile341Val)
NM_006493.4(CLN5):c.1022T>C (p.Ile341Thr)
NM_006493.4(CLN5):c.1034_1037dup (p.Pro347fs) rs1555274391
NM_006493.4(CLN5):c.1041_1042delinsCC (p.Pro347_Leu348=)
NM_006493.4(CLN5):c.1048_1051dup (p.Arg351fs) rs1555274402
NM_006493.4(CLN5):c.1051A>G (p.Arg351Gly) rs2154035217
NM_006493.4(CLN5):c.1057A>G (p.Lys353Glu)
NM_006493.4(CLN5):c.1067_1068del (p.Ser356fs) rs796052345
NM_006493.4(CLN5):c.1074A>T (p.Leu358Phe) rs1555274416
NM_006493.4(CLN5):c.107C>T (p.Ala36Val) rs2154034272
NM_006493.4(CLN5):c.116C>T (p.Pro39Leu) rs1285996011
NM_006493.4(CLN5):c.118G>C (p.Gly40Arg) rs748399349
NM_006493.4(CLN5):c.11A>C (p.Glu4Ala)
NM_006493.4(CLN5):c.127C>T (p.Arg43Trp) rs1213074445
NM_006493.4(CLN5):c.128G>A (p.Arg43Gln) rs1282649970
NM_006493.4(CLN5):c.12G>C (p.Glu4Asp)
NM_006493.4(CLN5):c.133T>C (p.Ser45Pro) rs776490903
NM_006493.4(CLN5):c.134C>T (p.Ser45Leu)
NM_006493.4(CLN5):c.142C>A (p.Pro48Thr) rs1131691423
NM_006493.4(CLN5):c.149G>A (p.Arg50Gln)
NM_006493.4(CLN5):c.162G>A (p.Pro54=) rs754303449
NM_006493.4(CLN5):c.170A>G (p.Tyr57Cys)
NM_006493.4(CLN5):c.172A>G (p.Lys58Glu)
NM_006493.4(CLN5):c.173+5G>A rs2034192763
NM_006493.4(CLN5):c.175C>A (p.Arg59Ser) rs765773686
NM_006493.4(CLN5):c.175C>T (p.Arg59Cys) rs765773686
NM_006493.4(CLN5):c.176G>T (p.Arg59Leu) rs753197537
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro) rs104894386
NM_006493.4(CLN5):c.188G>T (p.Arg63Leu)
NM_006493.4(CLN5):c.19A>T (p.Thr7Ser) rs541501705
NM_006493.4(CLN5):c.203C>T (p.Pro68Leu) rs2154034626
NM_006493.4(CLN5):c.208T>C (p.Cys70Arg) rs1593910113
NM_006493.4(CLN5):c.215C>G (p.Ala72Gly)
NM_006493.4(CLN5):c.215C>T (p.Ala72Val) rs2154034628
NM_006493.4(CLN5):c.224C>G (p.Thr75Ser)
NM_006493.4(CLN5):c.224C>T (p.Thr75Ile) rs376336781
NM_006493.4(CLN5):c.229T>A (p.Cys77Ser) rs2034242824
NM_006493.4(CLN5):c.236C>T (p.Thr79Ile)
NM_006493.4(CLN5):c.244C>T (p.Pro82Ser)
NM_006493.4(CLN5):c.248T>C (p.Ile83Thr)
NM_006493.4(CLN5):c.248T>G (p.Ile83Ser) rs2034243356
NM_006493.4(CLN5):c.270T>A (p.Asp90Glu) rs898862493
NM_006493.4(CLN5):c.279A>T (p.Glu93Asp) rs2154034642
NM_006493.4(CLN5):c.287G>A (p.Arg96Gln) rs201068201
NM_006493.4(CLN5):c.287G>T (p.Arg96Leu)
NM_006493.4(CLN5):c.291A>C (p.Leu97Phe) rs2154034643
NM_006493.4(CLN5):c.335A>T (p.His112Leu)
NM_006493.4(CLN5):c.336C>G (p.His112Gln) rs2034245418
NM_006493.4(CLN5):c.339G>C (p.Leu113Phe) rs147214555
NM_006493.4(CLN5):c.33_50dup (p.Glu12_Ala17dup) rs1555273571
NM_006493.4(CLN5):c.347T>C (p.Met116Thr) rs2154034705
NM_006493.4(CLN5):c.34G>T (p.Glu12Ter)
NM_006493.4(CLN5):c.358A>G (p.Ile120Val) rs1231886495
NM_006493.4(CLN5):c.359T>C (p.Ile120Thr)
NM_006493.4(CLN5):c.37A>G (p.Met13Val)
NM_006493.4(CLN5):c.38T>C (p.Met13Thr) rs1007145426
NM_006493.4(CLN5):c.391T>C (p.Tyr131His)
NM_006493.4(CLN5):c.395C>T (p.Thr132Ile) rs1305273453
NM_006493.4(CLN5):c.398T>G (p.Met133Arg) rs1419308949
NM_006493.4(CLN5):c.415T>C (p.Phe139Leu) rs794727507
NM_006493.4(CLN5):c.422T>C (p.Leu141Pro)
NM_006493.4(CLN5):c.434C>A (p.Thr145Lys)
NM_006493.4(CLN5):c.43C>T (p.Arg15Trp) rs772949539
NM_006493.4(CLN5):c.442C>T (p.His148Tyr) rs752563013
NM_006493.4(CLN5):c.446T>C (p.Leu149Pro) rs386833976
NM_006493.4(CLN5):c.449G>A (p.Arg150Gln) rs1014000261
NM_006493.4(CLN5):c.451C>T (p.Pro151Ser) rs777080820
NM_006493.4(CLN5):c.460G>C (p.Asp154His)
NM_006493.4(CLN5):c.464C>T (p.Ala155Val) rs2154034734
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser) rs386833977
NM_006493.4(CLN5):c.46G>A (p.Gly16Ser)
NM_006493.4(CLN5):c.475T>C (p.Cys159Arg) rs2154034738
NM_006493.4(CLN5):c.47GCGCGG[3] (p.16GA[3]) rs1409904698
NM_006493.4(CLN5):c.500T>C (p.Phe167Ser) rs1393893027
NM_006493.4(CLN5):c.515A>G (p.Asp172Gly)
NM_006493.4(CLN5):c.535G>T (p.Gly179Trp) rs2034263363
NM_006493.4(CLN5):c.544G>A (p.Val182Ile) rs1064795474
NM_006493.4(CLN5):c.550G>A (p.Val184Ile) rs1566219289
NM_006493.4(CLN5):c.553_561del (p.Ala185_Ile187del) rs1555274012
NM_006493.4(CLN5):c.563C>T (p.Ser188Leu)
NM_006493.4(CLN5):c.565+2dup rs1476787722
NM_006493.4(CLN5):c.566-7A>G rs772501269
NM_006493.4(CLN5):c.573G>A (p.Met191Ile) rs2034339154
NM_006493.4(CLN5):c.574T>G (p.Phe192Val) rs1555274325
NM_006493.4(CLN5):c.587C>T (p.Ala196Val) rs2034339472
NM_006493.4(CLN5):c.59C>T (p.Ala20Val)
NM_006493.4(CLN5):c.62G>A (p.Arg21Gln) rs2034188293
NM_006493.4(CLN5):c.65G>A (p.Gly22Glu) rs2034188434
NM_006493.4(CLN5):c.661G>C (p.Gly221Arg) rs755669847
NM_006493.4(CLN5):c.675G>C (p.Trp225Cys) rs1555274338
NM_006493.4(CLN5):c.702T>G (p.Phe234Leu) rs1593914834
NM_006493.4(CLN5):c.704T>C (p.Val235Ala) rs535755345
NM_006493.4(CLN5):c.739G>A (p.Ala247Thr)
NM_006493.4(CLN5):c.745T>G (p.Phe249Val)
NM_006493.4(CLN5):c.74C>T (p.Ser25Phe) rs1085307868
NM_006493.4(CLN5):c.751A>G (p.Asn251Asp)
NM_006493.4(CLN5):c.756A>G (p.Ile252Met)
NM_006493.4(CLN5):c.757G>C (p.Glu253Gln) rs1232560552
NM_006493.4(CLN5):c.773G>T (p.Arg258Ile) rs376675270
NM_006493.4(CLN5):c.77G>C (p.Trp26Ser) rs764790770
NM_006493.4(CLN5):c.787A>G (p.Ser263Gly) rs1329255995
NM_006493.4(CLN5):c.788G>A (p.Ser263Asn) rs730882146
NM_006493.4(CLN5):c.806T>G (p.Leu269Arg) rs2034345372
NM_006493.4(CLN5):c.818C>T (p.Thr273Ile)
NM_006493.4(CLN5):c.826T>C (p.Phe276Leu)
NM_006493.4(CLN5):c.864A>G (p.Ile288Met) rs1375890703
NM_006493.4(CLN5):c.866A>G (p.Lys289Arg)
NM_006493.4(CLN5):c.875A>T (p.Tyr292Phe)
NM_006493.4(CLN5):c.885C>G (p.Phe295Leu) rs772050001
NM_006493.4(CLN5):c.889C>A (p.Pro297Thr)
NM_006493.4(CLN5):c.89T>C (p.Leu30Pro) rs2034189535
NM_006493.4(CLN5):c.902C>A (p.Thr301Asn) rs1298505272
NM_006493.4(CLN5):c.91G>A (p.Ala31Thr)
NM_006493.4(CLN5):c.920G>A (p.Ser307Asn) rs1555274374
NM_006493.4(CLN5):c.928C>G (p.Gln310Glu)
NM_006493.4(CLN5):c.92C>A (p.Ala31Glu) rs766858440
NM_006493.4(CLN5):c.92C>T (p.Ala31Val)
NM_006493.4(CLN5):c.936T>G (p.Phe312Leu) rs2154035192
NM_006493.4(CLN5):c.947T>G (p.Ile316Ser)
NM_006493.4(CLN5):c.955A>G (p.Lys319Glu) rs202171514
NM_006493.4(CLN5):c.958C>G (p.Gln320Glu)
NM_006493.4(CLN5):c.959A>G (p.Gln320Arg)
NM_006493.4(CLN5):c.963C>T (p.Phe321=) rs756149425
NM_006493.4(CLN5):c.98T>A (p.Leu33His)
NM_006493.4(CLN5):c.990G>T (p.Trp330Cys) rs386833968
NM_017882.3(CLN6):c.*224T>C rs886051442
NM_017882.3(CLN6):c.*264T>C rs886051440
NM_017882.3(CLN6):c.*345C>T rs2093191394
NM_017882.3(CLN6):c.*526A>G rs886051438
NM_017882.3(CLN6):c.*887G>T rs886051436
NM_017882.3(CLN6):c.*88G>A rs886051446
NM_017882.3(CLN6):c.-108G>C rs865972073
NM_017882.3(CLN6):c.108G>T (p.Glu36Asp) rs1226528243
NM_017882.3(CLN6):c.112G>T (p.Ala38Ser)
NM_017882.3(CLN6):c.115C>G (p.Arg39Gly) rs142260866
NM_017882.3(CLN6):c.115C>T (p.Arg39Cys) rs142260866
NM_017882.3(CLN6):c.116G>A (p.Arg39His) rs779456928
NM_017882.3(CLN6):c.119C>A (p.Thr40Lys) rs769199442
NM_017882.3(CLN6):c.119C>T (p.Thr40Met) rs769199442
NM_017882.3(CLN6):c.124C>G (p.Pro42Ala) rs1003606439
NM_017882.3(CLN6):c.124C>T (p.Pro42Ser) rs1003606439
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe) rs154774635
NM_017882.3(CLN6):c.146T>A (p.Phe49Tyr)
NM_017882.3(CLN6):c.14G>A (p.Arg5Gln) rs2093262797
NM_017882.3(CLN6):c.158T>G (p.Leu53Arg)
NM_017882.3(CLN6):c.161A>G (p.Gln54Arg) rs2093226926
NM_017882.3(CLN6):c.163A>T (p.Asn55Tyr)
NM_017882.3(CLN6):c.179T>C (p.Phe60Ser)
NM_017882.3(CLN6):c.185G>A (p.Arg62His) rs751486476
NM_017882.3(CLN6):c.190A>G (p.Ile64Val)
NM_017882.3(CLN6):c.196A>G (p.Met66Val) rs1430705796
NM_017882.3(CLN6):c.198+3G>C
NM_017882.3(CLN6):c.198+5G>A
NM_017882.3(CLN6):c.199-12T>G
NM_017882.3(CLN6):c.202G>C (p.Val68Leu)
NM_017882.3(CLN6):c.212T>G (p.Leu71Arg) rs1450871754
NM_017882.3(CLN6):c.213C>G (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.214G>A (p.Glu72Lys) rs104894483
NM_017882.3(CLN6):c.224C>T (p.Pro75Leu) rs1595819607
NM_017882.3(CLN6):c.230A>C (p.Asn77Thr) rs776974644
NM_017882.3(CLN6):c.268A>G (p.Asn90Asp) rs2093214490
NM_017882.3(CLN6):c.269A>T (p.Asn90Ile) rs2141141464
NM_017882.3(CLN6):c.270C>A (p.Asn90Lys)
NM_017882.3(CLN6):c.276C>G (p.Ile92Met)
NM_017882.3(CLN6):c.284T>C (p.Phe95Ser)
NM_017882.3(CLN6):c.28C>G (p.Leu10Val) rs1457277891
NM_017882.3(CLN6):c.297+4C>T rs1030759897
NM_017882.3(CLN6):c.297G>C (p.Lys99Asn)
NM_017882.3(CLN6):c.299T>G (p.Leu100Arg) rs1555438702
NM_017882.3(CLN6):c.311C>T (p.Ser104Phe) rs777921628
NM_017882.3(CLN6):c.314C>T (p.Pro105Leu) rs769747737
NM_017882.3(CLN6):c.316C>G (p.Arg106Gly)
NM_017882.3(CLN6):c.329G>T (p.Arg110Leu) rs140179213
NM_017882.3(CLN6):c.32G>C (p.Gly11Ala) rs2093262694
NM_017882.3(CLN6):c.349ATC[2] (p.Ile119del) rs886051447
NM_017882.3(CLN6):c.360C>A (p.Phe120Leu) rs1362402324
NM_017882.3(CLN6):c.363C>G (p.Ile121Met) rs148547876
NM_017882.3(CLN6):c.364A>G (p.Met122Val)
NM_017882.3(CLN6):c.365T>C (p.Met122Thr) rs2093206265
NM_017882.3(CLN6):c.366G>C (p.Met122Ile)
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp) rs104894484
NM_017882.3(CLN6):c.371C>T (p.Ala124Val) rs1567095879
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly) rs772893554
NM_017882.3(CLN6):c.377T>C (p.Ile126Thr) rs2141139324
NM_017882.3(CLN6):c.388G>A (p.Gly130Ser)
NM_017882.3(CLN6):c.401A>G (p.Asn134Ser)
NM_017882.3(CLN6):c.403C>G (p.His135Asp)
NM_017882.3(CLN6):c.40G>A (p.Gly14Ser) rs2093262651
NM_017882.3(CLN6):c.410T>A (p.Leu137Gln)
NM_017882.3(CLN6):c.412C>T (p.Leu138Phe)
NM_017882.3(CLN6):c.431A>G (p.His144Arg) rs1595818258
NM_017882.3(CLN6):c.437T>C (p.Leu146Pro) rs1595818249
NM_017882.3(CLN6):c.443T>A (p.Val148Asp) rs1555438678
NM_017882.3(CLN6):c.455C>G (p.Pro152Arg) rs2141139183
NM_017882.3(CLN6):c.469C>A (p.Leu157Ile) rs2093205792
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu) rs919850756
NM_017882.3(CLN6):c.487-12T>A rs571940397
NM_017882.3(CLN6):c.487-3C>G rs1468531022
NM_017882.3(CLN6):c.490G>A (p.Asp164Asn) rs779685727
NM_017882.3(CLN6):c.493T>C (p.Ser165Pro)
NM_017882.3(CLN6):c.494C>T (p.Ser165Phe) rs1595818025
NM_017882.3(CLN6):c.497T>C (p.Phe166Ser) rs2093204354
NM_017882.3(CLN6):c.4G>A (p.Glu2Lys) rs796052360
NM_017882.3(CLN6):c.506T>A (p.Leu169His) rs1344658850
NM_017882.3(CLN6):c.506T>C (p.Leu169Pro) rs1344658850
NM_017882.3(CLN6):c.516TGA[1] (p.Asp173del) rs916824303
NM_017882.3(CLN6):c.542+5G>T rs786205066
NM_017882.3(CLN6):c.551C>T (p.Pro184Leu)
NM_017882.3(CLN6):c.553T>G (p.Phe185Val) rs2093199272
NM_017882.3(CLN6):c.553TTC[1] (p.Phe186del) rs2141137304
NM_017882.3(CLN6):c.559C>T (p.Leu187Phe) rs764670832
NM_017882.3(CLN6):c.563T>C (p.Ile188Thr) rs763059017
NM_017882.3(CLN6):c.565C>T (p.Leu189Phe)
NM_017882.3(CLN6):c.570_572del (p.Phe190_Met191delinsLeu)
NM_017882.3(CLN6):c.571A>G (p.Met191Val) rs1555438435
NM_017882.3(CLN6):c.57G>C (p.Gln19His) rs2093262571
NM_017882.3(CLN6):c.587G>T (p.Cys196Phe) rs2093199089
NM_017882.3(CLN6):c.602A>C (p.Lys201Thr) rs2141137255
NM_017882.3(CLN6):c.617T>C (p.Ile206Thr) rs2141137247
NM_017882.3(CLN6):c.61_62insCGG (p.Leu20_Gly21insAla) rs878855040
NM_017882.3(CLN6):c.623G>A (p.Gly208Glu) rs2141137239
NM_017882.3(CLN6):c.625C>T (p.Pro209Ser) rs1064794559
NM_017882.3(CLN6):c.640G>A (p.Val214Met)
NM_017882.3(CLN6):c.649A>G (p.Ser217Gly) rs1567095087
NM_017882.3(CLN6):c.64G>A (p.Ala22Thr) rs527373013
NM_017882.3(CLN6):c.653G>A (p.Gly218Asp) rs1160988895
NM_017882.3(CLN6):c.653G>T (p.Gly218Val) rs1160988895
NM_017882.3(CLN6):c.659A>C (p.Tyr220Ser) rs2093198812
NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys) rs764571295
NM_017882.3(CLN6):c.667T>C (p.Tyr223His) rs2093194324
NM_017882.3(CLN6):c.66C>T (p.Ala22=) rs796052349
NM_017882.3(CLN6):c.683G>A (p.Gly228Asp)
NM_017882.3(CLN6):c.685C>G (p.Gln229Glu)
NM_017882.3(CLN6):c.68C>A (p.Ser23Tyr)
NM_017882.3(CLN6):c.696C>G (p.Ile232Met) rs2141136135
NM_017882.3(CLN6):c.701T>C (p.Phe234Ser) rs2141136125
NM_017882.3(CLN6):c.702C>A (p.Phe234Leu) rs1555438267
NM_017882.3(CLN6):c.706T>G (p.Phe236Val) rs796052358
NM_017882.3(CLN6):c.719C>T (p.Ala240Val) rs2093194119
NM_017882.3(CLN6):c.723G>T (p.Met241Ile) rs149262877
NM_017882.3(CLN6):c.730C>G (p.Leu244Val) rs2093194059
NM_017882.3(CLN6):c.746A>C (p.Lys249Thr)
NM_017882.3(CLN6):c.757C>T (p.Leu253Phe) rs1274562752
NM_017882.3(CLN6):c.773A>G (p.Asn258Ser)
NM_017882.3(CLN6):c.775G>C (p.Gly259Arg) rs150363441
NM_017882.3(CLN6):c.775G>T (p.Gly259Cys) rs150363441
NM_017882.3(CLN6):c.77A>G (p.Gln26Arg)
NM_017882.3(CLN6):c.783C>G (p.Phe261Leu)
NM_017882.3(CLN6):c.814C>G (p.Leu272Val)
NM_017882.3(CLN6):c.828G>T (p.Trp276Cys) rs2093193718
NM_017882.3(CLN6):c.82A>T (p.Arg28Trp) rs2093262448
NM_017882.3(CLN6):c.83+11G>A rs2093262385
NM_017882.3(CLN6):c.83+15G>A
NM_017882.3(CLN6):c.83+6C>T
NM_017882.3(CLN6):c.838C>A (p.Leu280Met)
NM_017882.3(CLN6):c.849C>A (p.Asp283Glu) rs1239948245
NM_017882.3(CLN6):c.859A>T (p.Arg287Trp) rs2141135931
NM_017882.3(CLN6):c.864G>T (p.Lys288Asn)
NM_017882.3(CLN6):c.875G>C (p.Gly292Ala)
NM_017882.3(CLN6):c.883T>C (p.Tyr295His)
NM_017882.3(CLN6):c.909C>A (p.Tyr303Ter) rs1448520404
NM_017882.3(CLN6):c.915del (p.His306fs)
NM_017882.3(CLN6):c.919G>A (p.Val307Ile) rs146801142
NM_017882.3(CLN6):c.919G>T (p.Val307Phe) rs146801142
NM_017882.3(CLN6):c.921_922delinsTC (p.Ser308Arg) rs2141135839
NM_017882.3(CLN6):c.925A>C (p.Ser309Arg) rs762916725
NM_017882.3(CLN6):c.925A>G (p.Ser309Gly) rs762916725
NM_017882.3(CLN6):c.928C>T (p.Arg310Trp)
NM_017882.3(CLN6):c.92C>G (p.Ser31Cys) rs2141145171
NM_017882.3(CLN6):c.95T>G (p.Val32Gly)
NM_018941.4(CLN8):c.-123-1G>C rs1554448791
NM_018941.4(CLN8):c.-125_-124+19dup rs1064793088
NM_018941.4(CLN8):c.-131_-124+13del rs1554446821
NM_018941.4(CLN8):c.112G>T (p.Val38Phe) rs370199508
NM_018941.4(CLN8):c.127C>T (p.His43Tyr) rs541840243
NM_018941.4(CLN8):c.15C>G (p.Ser5Arg) rs374597781
NM_018941.4(CLN8):c.160C>A (p.Arg54Ser)
NM_018941.4(CLN8):c.163T>G (p.Ser55Ala)
NM_018941.4(CLN8):c.16G>A (p.Asp6Asn) rs200999640
NM_018941.4(CLN8):c.16G>C (p.Asp6His) rs200999640
NM_018941.4(CLN8):c.182A>C (p.Lys61Thr)
NM_018941.4(CLN8):c.187T>C (p.Phe63Leu)
NM_018941.4(CLN8):c.18T>A (p.Asp6Glu) rs1464108080
NM_018941.4(CLN8):c.18T>G (p.Asp6Glu)
NM_018941.4(CLN8):c.194A>T (p.Asp65Val)
NM_018941.4(CLN8):c.19G>A (p.Gly7Arg) rs764099428
NM_018941.4(CLN8):c.209G>C (p.Arg70Pro) rs386834124
NM_018941.4(CLN8):c.20G>C (p.Gly7Ala)
NM_018941.4(CLN8):c.227A>C (p.Gln76Pro)
NM_018941.4(CLN8):c.229A>G (p.Ser77Gly)
NM_018941.4(CLN8):c.230G>A (p.Ser77Asn)
NM_018941.4(CLN8):c.234A>G (p.Thr78=) rs1450867136
NM_018941.4(CLN8):c.236C>T (p.Ala79Val)
NM_018941.4(CLN8):c.238G>A (p.Ala80Thr) rs998922998
NM_018941.4(CLN8):c.23G>T (p.Gly8Val) rs781017885
NM_018941.4(CLN8):c.265C>A (p.Pro89Thr)
NM_018941.4(CLN8):c.265C>G (p.Pro89Ala) rs1486320972
NM_018941.4(CLN8):c.268G>T (p.Val90Leu)
NM_018941.4(CLN8):c.26C>T (p.Thr9Ile) rs1174240541
NM_018941.4(CLN8):c.274C>G (p.His92Asp) rs34030778
NM_018941.4(CLN8):c.278C>G (p.Ala93Gly) rs1468620144
NM_018941.4(CLN8):c.280G>A (p.Asp94Asn) rs143918546
NM_018941.4(CLN8):c.280G>C (p.Asp94His) rs143918546
NM_018941.4(CLN8):c.289C>A (p.Arg97Ser)
NM_018941.4(CLN8):c.290G>T (p.Arg97Leu) rs116605307
NM_018941.4(CLN8):c.299A>G (p.Gln100Arg)
NM_018941.4(CLN8):c.29C>T (p.Ser10Leu) rs1454175058
NM_018941.4(CLN8):c.303C>G (p.Asn101Lys) rs755831055
NM_018941.4(CLN8):c.306G>C (p.Trp102Cys) rs1554449124
NM_018941.4(CLN8):c.312G>T (p.Trp104Cys) rs1554449136
NM_018941.4(CLN8):c.322A>G (p.Thr108Ala)
NM_018941.4(CLN8):c.331A>G (p.Thr111Ala) rs1563107925
NM_018941.4(CLN8):c.344G>C (p.Cys115Ser)
NM_018941.4(CLN8):c.353A>C (p.Asn118Thr)
NM_018941.4(CLN8):c.358G>T (p.Ala120Ser) rs1353274959
NM_018941.4(CLN8):c.359C>T (p.Ala120Val)
NM_018941.4(CLN8):c.35G>C (p.Ser12Thr) rs1775036577
NM_018941.4(CLN8):c.361G>A (p.Val121Ile) rs1223417396
NM_018941.4(CLN8):c.371C>A (p.Ser124Tyr) rs1198837795
NM_018941.4(CLN8):c.374A>T (p.Asn125Ile) rs142269885
NM_018941.4(CLN8):c.37A>G (p.Ile13Val) rs1563107126
NM_018941.4(CLN8):c.380T>G (p.Ile127Ser)
NM_018941.4(CLN8):c.382T>C (p.Phe128Leu) rs1801301214
NM_018941.4(CLN8):c.385C>G (p.Arg129Gly)
NM_018941.4(CLN8):c.389C>T (p.Thr130Ile) rs1165037847
NM_018941.4(CLN8):c.392T>G (p.Phe131Cys) rs1404214432
NM_018941.4(CLN8):c.399G>T (p.Leu133Phe) rs948684101
NM_018941.4(CLN8):c.39T>G (p.Ile13Met) rs1801279215
NM_018941.4(CLN8):c.415C>T (p.His139Tyr) rs386834127
NM_018941.4(CLN8):c.427T>G (p.Phe143Val) rs2130992340
NM_018941.4(CLN8):c.446G>A (p.Cys149Tyr)
NM_018941.4(CLN8):c.452T>C (p.Val151Ala) rs752026391
NM_018941.4(CLN8):c.457C>G (p.Leu153Val)
NM_018941.4(CLN8):c.46C>A (p.Leu16Met) rs386834129
NM_018941.4(CLN8):c.471C>G (p.His157Gln) rs1585138507
NM_018941.4(CLN8):c.485C>G (p.Thr162Ser) rs1554449289
NM_018941.4(CLN8):c.499G>A (p.Glu167Lys) rs144495588
NM_018941.4(CLN8):c.509C>G (p.Thr170Arg)
NM_018941.4(CLN8):c.50A>T (p.Asp17Val) rs148668081
NM_018941.4(CLN8):c.512C>G (p.Pro171Arg) rs1184115888
NM_018941.4(CLN8):c.518C>T (p.Thr173Ile)
NM_018941.4(CLN8):c.523G>C (p.Val175Leu) rs768139689
NM_018941.4(CLN8):c.53A>G (p.Tyr18Cys) rs142104002
NM_018941.4(CLN8):c.543+5G>C
NM_018941.4(CLN8):c.544-2A>C
NM_018941.4(CLN8):c.544G>A (p.Ala182Thr)
NM_018941.4(CLN8):c.550T>G (p.Trp184Gly) rs1801670539
NM_018941.4(CLN8):c.560C>G (p.Ser187Cys) rs775174607
NM_018941.4(CLN8):c.56C>T (p.Ala19Val) rs942360618
NM_018941.4(CLN8):c.571A>C (p.Lys191Gln) rs1801671671
NM_018941.4(CLN8):c.573G>C (p.Lys191Asn)
NM_018941.4(CLN8):c.578A>G (p.Asn193Ser)
NM_018941.4(CLN8):c.579C>A (p.Asn193Lys)
NM_018941.4(CLN8):c.582G>C (p.Gln194His) rs139824802
NM_018941.4(CLN8):c.583T>A (p.Trp195Arg) rs766924857
NM_018941.4(CLN8):c.586C>G (p.Leu196Val) rs1459482330
NM_018941.4(CLN8):c.598A>T (p.Met200Leu) rs749595247
NM_018941.4(CLN8):c.59C>T (p.Ser20Phe) rs749651452
NM_018941.4(CLN8):c.5A>G (p.Asn2Ser)
NM_018941.4(CLN8):c.601T>A (p.Phe201Ile)
NM_018941.4(CLN8):c.606C>G (p.His202Gln)
NM_018941.4(CLN8):c.613A>G (p.Met205Val)
NM_018941.4(CLN8):c.616G>T (p.Val206Phe) rs751249766
NM_018941.4(CLN8):c.630C>G (p.His210Gln)
NM_018941.4(CLN8):c.631A>G (p.Met211Val) rs745785480
NM_018941.4(CLN8):c.631A>T (p.Met211Leu)
NM_018941.4(CLN8):c.632T>C (p.Met211Thr)
NM_018941.4(CLN8):c.636G>C (p.Trp212Cys)
NM_018941.4(CLN8):c.637del (p.Trp213fs) rs2129015232
NM_018941.4(CLN8):c.639G>C (p.Trp213Cys)
NM_018941.4(CLN8):c.648C>T (p.Phe216=) rs564074916
NM_018941.4(CLN8):c.650G>C (p.Trp217Ser)
NM_018941.4(CLN8):c.667G>C (p.Val223Leu) rs1801676517
NM_018941.4(CLN8):c.681T>A (p.Tyr227Ter) rs1554451561
NM_018941.4(CLN8):c.682C>G (p.Leu228Val) rs1585151658
NM_018941.4(CLN8):c.686C>T (p.Pro229Leu)
NM_018941.4(CLN8):c.690T>G (p.His230Gln)
NM_018941.4(CLN8):c.694A>C (p.Thr232Pro)
NM_018941.4(CLN8):c.703C>T (p.Leu235Phe)
NM_018941.4(CLN8):c.706G>A (p.Val236Ile) rs371830719
NM_018941.4(CLN8):c.706G>C (p.Val236Leu)
NM_018941.4(CLN8):c.70C>T (p.Arg24Cys) rs104894064
NM_018941.4(CLN8):c.721C>G (p.Leu241Val) rs1554451594
NM_018941.4(CLN8):c.731T>C (p.Ile244Thr)
NM_018941.4(CLN8):c.732C>G (p.Ile244Met) rs747778614
NM_018941.4(CLN8):c.743A>G (p.Tyr248Cys)
NM_018941.4(CLN8):c.745T>C (p.Trp249Arg)
NM_018941.4(CLN8):c.763C>G (p.Gln255Glu) rs746397087
NM_018941.4(CLN8):c.76A>T (p.Thr26Ser)
NM_018941.4(CLN8):c.775A>G (p.Asn259Asp) rs1044299834
NM_018941.4(CLN8):c.776A>T (p.Asn259Ile) rs201956727
NM_018941.4(CLN8):c.77C>G (p.Thr26Arg) rs755846977
NM_018941.4(CLN8):c.77C>T (p.Thr26Met) rs755846977
NM_018941.4(CLN8):c.781G>A (p.Val261Met) rs1482950665
NM_018941.4(CLN8):c.782T>C (p.Val261Ala)
NM_018941.4(CLN8):c.796G>T (p.Ala266Ser)
NM_018941.4(CLN8):c.797C>T (p.Ala266Val)
NM_018941.4(CLN8):c.7C>T (p.Pro3Ser) rs767218890
NM_018941.4(CLN8):c.801G>C (p.Gln267His)
NM_018941.4(CLN8):c.801dup (p.Pro268fs)
NM_018941.4(CLN8):c.805G>A (p.Glu269Lys)
NM_018941.4(CLN8):c.806A>G (p.Glu269Gly) rs139003032
NM_018941.4(CLN8):c.809C>T (p.Ala270Val) rs2129015316
NM_018941.4(CLN8):c.812A>G (p.Lys271Arg) rs914759366
NM_018941.4(CLN8):c.820C>T (p.Pro274Ser)
NM_018941.4(CLN8):c.827del (p.Gly276fs) rs1365308812
NM_018941.4(CLN8):c.830A>G (p.Asn277Ser)
NM_018941.4(CLN8):c.835C>T (p.Gln279Ter)
NM_018941.4(CLN8):c.845G>C (p.Arg282Pro) rs766172825
NM_018941.4(CLN8):c.851A>C (p.Lys284Thr) rs2129015342
NM_018941.4(CLN8):c.859dup (p.Ter287LeuextTer?) rs2129015346
NM_018941.4(CLN8):c.85G>T (p.Val29Phe)
NM_018941.4(CLN8):c.88G>T (p.Ala30Ser) rs137852883
NM_018941.4(CLN8):c.94T>G (p.Phe32Val) rs758068226
NM_018941.4(CLN8):c.97G>C (p.Val33Leu) rs1801284979
NM_018941.4(CLN8):c.98T>C (p.Val33Ala) rs1301388199
NM_022089.4(ATP13A2):c.*9C>A rs773484997
NM_022089.4(ATP13A2):c.-171G>C rs1350517492
NM_022089.4(ATP13A2):c.1034T>C (p.Leu345Pro)
NM_022089.4(ATP13A2):c.103G>A (p.Val35Met)
NM_022089.4(ATP13A2):c.1040-6C>T rs886045582
NM_022089.4(ATP13A2):c.106-13G>A
NM_022089.4(ATP13A2):c.1075G>A (p.Glu359Lys)
NM_022089.4(ATP13A2):c.1093T>C (p.Cys365Arg)
NM_022089.4(ATP13A2):c.1105C>G (p.His369Asp) rs2077158233
NM_022089.4(ATP13A2):c.1111C>T (p.Arg371Trp) rs746292302
NM_022089.4(ATP13A2):c.1120C>A (p.Leu374Ile)
NM_022089.4(ATP13A2):c.1126T>C (p.Cys376Arg) rs1570833382
NM_022089.4(ATP13A2):c.112A>G (p.Ser38Gly) rs780883238
NM_022089.4(ATP13A2):c.1145A>G (p.Gln382Arg)
NM_022089.4(ATP13A2):c.1157A>T (p.Tyr386Phe) rs762628723
NM_022089.4(ATP13A2):c.1163G>A (p.Gly388Glu) rs769588580
NM_022089.4(ATP13A2):c.1170C>A (p.His390Gln) rs201661480
NM_022089.4(ATP13A2):c.1190G>A (p.Arg397His)
NM_022089.4(ATP13A2):c.1196G>A (p.Gly399Glu) rs2100897670
NM_022089.4(ATP13A2):c.1208C>A (p.Ala403Glu) rs373349384
NM_022089.4(ATP13A2):c.1219C>A (p.Leu407Met) rs773702054
NM_022089.4(ATP13A2):c.1227C>G (p.Ser409Arg)
NM_022089.4(ATP13A2):c.1243C>A (p.Arg415=)
NM_022089.4(ATP13A2):c.1272C>A (p.His424Gln)
NM_022089.4(ATP13A2):c.1276A>G (p.Met426Val)
NM_022089.4(ATP13A2):c.1279A>G (p.Lys427Glu)
NM_022089.4(ATP13A2):c.1306G>A (p.Ala436Thr) rs1439546959
NM_022089.4(ATP13A2):c.1322T>C (p.Ile441Thr)
NM_022089.4(ATP13A2):c.1325_1333del (p.Tyr442_Ile444del)
NM_022089.4(ATP13A2):c.1346G>A (p.Arg449Gln)
NM_022089.4(ATP13A2):c.1351C>T (p.Arg451Trp)
NM_022089.4(ATP13A2):c.1353G>A (p.Arg451=)
NM_022089.4(ATP13A2):c.1360C>G (p.Leu454Val) rs2100884368
NM_022089.4(ATP13A2):c.1387G>C (p.Asp463His) rs776550207
NM_022089.4(ATP13A2):c.13A>G (p.Ser5Gly) rs2101131465
NM_022089.4(ATP13A2):c.1400T>A (p.Val467Glu)
NM_022089.4(ATP13A2):c.1422TGC[3] (p.Ala476_Met477insAla)
NM_022089.4(ATP13A2):c.1466G>A (p.Arg489Gln)
NM_022089.4(ATP13A2):c.1466G>T (p.Arg489Leu) rs760567858
NM_022089.4(ATP13A2):c.1477A>C (p.Ile493Leu) rs1570821678
NM_022089.4(ATP13A2):c.148T>C (p.Tyr50His) rs2101123287
NM_022089.4(ATP13A2):c.1498C>T (p.Arg500Cys)
NM_022089.4(ATP13A2):c.1542+13dup rs1367928615
NM_022089.4(ATP13A2):c.1564G>A (p.Gly522Ser)
NM_022089.4(ATP13A2):c.1570G>A (p.Asp524Asn)
NM_022089.4(ATP13A2):c.1589C>T (p.Pro530Leu) rs2077019285
NM_022089.4(ATP13A2):c.1591C>G (p.Leu531Val) rs2077019135
NM_022089.4(ATP13A2):c.1592T>C (p.Leu531Pro) rs2100818906
NM_022089.4(ATP13A2):c.1594_1617dup (p.Lys532_Leu539dup) rs766184032
NM_022089.4(ATP13A2):c.1621C>T (p.Pro541Ser)
NM_022089.4(ATP13A2):c.1649C>A (p.Pro550His) rs1379076892
NM_022089.4(ATP13A2):c.165G>C (p.Trp55Cys)
NM_022089.4(ATP13A2):c.1685G>A (p.Ser562Asn) rs2100815818
NM_022089.4(ATP13A2):c.1696G>A (p.Asp566Asn) rs2100815502
NM_022089.4(ATP13A2):c.1705G>A (p.Val569Met)
NM_022089.4(ATP13A2):c.1720G>A (p.Asp574Asn)
NM_022089.4(ATP13A2):c.1749+15C>G
NM_022089.4(ATP13A2):c.1749+2T>G rs74058364
NM_022089.4(ATP13A2):c.1749+5G>C
NM_022089.4(ATP13A2):c.1762G>A (p.Glu588Lys) rs1251315572
NM_022089.4(ATP13A2):c.1766C>A (p.Pro589Gln)
NM_022089.4(ATP13A2):c.1772C>T (p.Ala591Val) rs758957419
NM_022089.4(ATP13A2):c.1777_1778del (p.Ala594fs) rs1557683241
NM_022089.4(ATP13A2):c.1780G>A (p.Ala594Thr)
NM_022089.4(ATP13A2):c.1795G>A (p.Val599Ile) rs764411847
NM_022089.4(ATP13A2):c.1819C>G (p.Leu607Val)
NM_022089.4(ATP13A2):c.1843A>G (p.Met615Val) rs200529993
NM_022089.4(ATP13A2):c.1853C>A (p.Pro618His)
NM_022089.4(ATP13A2):c.1859T>C (p.Val620Ala) rs2100782693
NM_022089.4(ATP13A2):c.190C>T (p.Leu64Phe)
NM_022089.4(ATP13A2):c.1931C>G (p.Pro644Arg) rs2100780847
NM_022089.4(ATP13A2):c.1947C>G (p.Pro649=) rs369722835
NM_022089.4(ATP13A2):c.196C>G (p.Arg66Gly)
NM_022089.4(ATP13A2):c.1999G>A (p.Glu667Lys)
NM_022089.4(ATP13A2):c.2028G>T (p.Met676Ile)
NM_022089.4(ATP13A2):c.2045C>T (p.Ala682Val)
NM_022089.4(ATP13A2):c.20C>T (p.Pro7Leu) rs2077535736
NM_022089.4(ATP13A2):c.2123C>T (p.Thr708Met)
NM_022089.4(ATP13A2):c.212G>C (p.Trp71Ser) rs373607247
NM_022089.4(ATP13A2):c.2130C>A (p.Asp710Glu) rs2076943011
NM_022089.4(ATP13A2):c.2134G>C (p.Val712Leu)
NM_022089.4(ATP13A2):c.2147T>G (p.Leu716Arg)
NM_022089.4(ATP13A2):c.2178C>G (p.Asn726Lys)
NM_022089.4(ATP13A2):c.2180T>C (p.Leu727Pro)
NM_022089.4(ATP13A2):c.2189C>T (p.Pro730Leu)
NM_022089.4(ATP13A2):c.218T>C (p.Val73Ala)
NM_022089.4(ATP13A2):c.2208C>G (p.Ile736Met) rs1372021672
NM_022089.4(ATP13A2):c.2218C>G (p.Arg740Gly) rs973767624
NM_022089.4(ATP13A2):c.2227C>T (p.Arg743Cys)
NM_022089.4(ATP13A2):c.2230A>G (p.Ile744Val) rs1401459588
NM_022089.4(ATP13A2):c.2239G>A (p.Val747Ile)
NM_022089.4(ATP13A2):c.2251+5A>G
NM_022089.4(ATP13A2):c.2252-12C>G
NM_022089.4(ATP13A2):c.227G>A (p.Arg76Gln)
NM_022089.4(ATP13A2):c.2305C>T (p.Pro769Ser)
NM_022089.4(ATP13A2):c.2309A>G (p.Gln770Arg) rs77630788
NM_022089.4(ATP13A2):c.2326G>A (p.Val776Ile) rs56170027
NM_022089.4(ATP13A2):c.2333C>G (p.Ala778Gly)
NM_022089.4(ATP13A2):c.2339A>C (p.His780Pro) rs867014635
NM_022089.4(ATP13A2):c.2395G>A (p.Ala799Thr)
NM_022089.4(ATP13A2):c.2417C>T (p.Pro806Leu) rs2100727013
NM_022089.4(ATP13A2):c.2429C>T (p.Ala810Val)
NM_022089.4(ATP13A2):c.2451C>G (p.Asp817Glu)
NM_022089.4(ATP13A2):c.2459C>G (p.Ser820Cys)
NM_022089.4(ATP13A2):c.2464C>T (p.His822Tyr) rs2100725484
NM_022089.4(ATP13A2):c.2478C>G (p.Ser826Arg) rs147611385
NM_022089.4(ATP13A2):c.2483C>T (p.Pro828Leu) rs1235764815
NM_022089.4(ATP13A2):c.2488T>G (p.Phe830Val)
NM_022089.4(ATP13A2):c.2517G>C (p.Lys839Asn) rs2076866081
NM_022089.4(ATP13A2):c.2527A>C (p.Lys843Gln) rs2100724045
NM_022089.4(ATP13A2):c.2548G>C (p.Val850Leu)
NM_022089.4(ATP13A2):c.2557C>G (p.Arg853Gly) rs772243999
NM_022089.4(ATP13A2):c.2563G>A (p.Ala855Thr) rs886045579
NM_022089.4(ATP13A2):c.256G>A (p.Glu86Lys)
NM_022089.4(ATP13A2):c.258A>C (p.Glu86Asp)
NM_022089.4(ATP13A2):c.2593G>C (p.Glu865Gln)
NM_022089.4(ATP13A2):c.2621G>C (p.Gly874Ala)
NM_022089.4(ATP13A2):c.2675G>A (p.Gly892Asp)
NM_022089.4(ATP13A2):c.271G>A (p.Glu91Lys)
NM_022089.4(ATP13A2):c.2766G>T (p.Glu922Asp)
NM_022089.4(ATP13A2):c.2808C>T (p.Tyr936=) rs886045578
NM_022089.4(ATP13A2):c.2835C>A (p.Phe945Leu)
NM_022089.4(ATP13A2):c.284A>G (p.Lys95Arg) rs2101118952
NM_022089.4(ATP13A2):c.2858C>G (p.Thr953Arg) rs148721722
NM_022089.4(ATP13A2):c.2858C>T (p.Thr953Met) rs148721722
NM_022089.4(ATP13A2):c.2859G>T (p.Thr953=) rs144557304
NM_022089.4(ATP13A2):c.2864A>G (p.Asn955Ser)
NM_022089.4(ATP13A2):c.2867C>G (p.Thr956Ser)
NM_022089.4(ATP13A2):c.288+13C>G rs1300682662
NM_022089.4(ATP13A2):c.2888T>C (p.Phe963Ser) rs2100659067
NM_022089.4(ATP13A2):c.2896A>G (p.Ile966Val)
NM_022089.4(ATP13A2):c.2899G>C (p.Asp967His) rs772870846
NM_022089.4(ATP13A2):c.2905G>C (p.Val969Leu) rs769445714
NM_022089.4(ATP13A2):c.2906T>C (p.Val969Ala)
NM_022089.4(ATP13A2):c.2910CAC[2] (p.Thr973del)
NM_022089.4(ATP13A2):c.2927T>C (p.Val976Ala) rs776148733
NM_022089.4(ATP13A2):c.2927T>G (p.Val976Gly) rs776148733
NM_022089.4(ATP13A2):c.2954T>C (p.Leu985Pro)
NM_022089.4(ATP13A2):c.2965C>T (p.Arg989Trp)
NM_022089.4(ATP13A2):c.2970_2971delinsAT (p.Arg991Trp) rs2100656614
NM_022089.4(ATP13A2):c.2978C>G (p.Pro993Arg) rs146559160
NM_022089.4(ATP13A2):c.2983del (p.Ala995fs) rs1414662479
NM_022089.4(ATP13A2):c.2984C>T (p.Ala995Val)
NM_022089.4(ATP13A2):c.2T>G (p.Met1Arg) rs1557729552
NM_022089.4(ATP13A2):c.3040G>C (p.Gly1014Arg)
NM_022089.4(ATP13A2):c.3041_3043dup (p.Gly1014dup) rs2100654427
NM_022089.4(ATP13A2):c.3065T>C (p.Leu1022Pro) rs2076761037
NM_022089.4(ATP13A2):c.3068C>T (p.Thr1023Ile) rs951420437
NM_022089.4(ATP13A2):c.3080C>A (p.Pro1027Gln)
NM_022089.4(ATP13A2):c.3083+5G>A
NM_022089.4(ATP13A2):c.3084-10G>T rs368908107
NM_022089.4(ATP13A2):c.3084-7C>A
NM_022089.4(ATP13A2):c.3111C>T (p.Ala1037=) rs538236343
NM_022089.4(ATP13A2):c.3184G>T (p.Ala1062Ser)
NM_022089.4(ATP13A2):c.3193G>T (p.Val1065Leu) rs377431904
NM_022089.4(ATP13A2):c.3206C>A (p.Ala1069Glu) rs764988645
NM_022089.4(ATP13A2):c.3206C>G (p.Ala1069Gly)
NM_022089.4(ATP13A2):c.3235+14C>T
NM_022089.4(ATP13A2):c.3239C>A (p.Pro1080His)
NM_022089.4(ATP13A2):c.3247G>C (p.Val1083Leu)
NM_022089.4(ATP13A2):c.3256G>A (p.Ala1086Thr)
NM_022089.4(ATP13A2):c.3258G>C (p.Ala1086=) rs377253172
NM_022089.4(ATP13A2):c.3271G>A (p.Val1091Ile)
NM_022089.4(ATP13A2):c.3277G>C (p.Val1093Leu) rs1057522952
NM_022089.4(ATP13A2):c.3301C>T (p.Leu1101Phe) rs886045577
NM_022089.4(ATP13A2):c.3314C>G (p.Pro1105Arg)
NM_022089.4(ATP13A2):c.3343G>A (p.Gly1115Ser) rs145674970
NM_022089.4(ATP13A2):c.3399G>A (p.Met1133Ile)
NM_022089.4(ATP13A2):c.3408C>A (p.Ser1136Arg) rs779310083
NM_022089.4(ATP13A2):c.3422G>T (p.Cys1141Phe)
NM_022089.4(ATP13A2):c.3439C>A (p.Arg1147Ser)
NM_022089.4(ATP13A2):c.3448C>T (p.Arg1150Trp)
NM_022089.4(ATP13A2):c.3449G>A (p.Arg1150Gln)
NM_022089.4(ATP13A2):c.344G>T (p.Gly115Val)
NM_022089.4(ATP13A2):c.3458G>C (p.Arg1153Pro) rs772666861
NM_022089.4(ATP13A2):c.347+17_347+18delinsAT
NM_022089.4(ATP13A2):c.3471G>T (p.Lys1157Asn) rs2100626361
NM_022089.4(ATP13A2):c.3472C>A (p.Arg1158Ser) rs201610681
NM_022089.4(ATP13A2):c.3476T>C (p.Phe1159Ser) rs1553164387
NM_022089.4(ATP13A2):c.348C>G (p.Ser116Arg) rs2077491125
NM_022089.4(ATP13A2):c.3490C>T (p.Arg1164Ter)
NM_022089.4(ATP13A2):c.3502G>A (p.Glu1168Lys)
NM_022089.4(ATP13A2):c.3503_3516dup (p.Pro1173fs) rs779637529
NM_022089.4(ATP13A2):c.3535del (p.Pro1178_Leu1179insTer) rs1570752813
NM_022089.4(ATP13A2):c.361C>T (p.Pro121Ser) rs1421953227
NM_022089.4(ATP13A2):c.373G>C (p.Ala125Pro)
NM_022089.4(ATP13A2):c.374C>A (p.Ala125Glu)
NM_022089.4(ATP13A2):c.401T>C (p.Val134Ala) rs2101102735
NM_022089.4(ATP13A2):c.43G>A (p.Gly15Ser)
NM_022089.4(ATP13A2):c.44G>C (p.Gly15Ala) rs1287774416
NM_022089.4(ATP13A2):c.469G>A (p.Val157Ile)
NM_022089.4(ATP13A2):c.482G>A (p.Arg161Gln)
NM_022089.4(ATP13A2):c.484G>T (p.Val162Leu) rs766714391
NM_022089.4(ATP13A2):c.498C>T (p.Tyr166=)
NM_022089.4(ATP13A2):c.4A>T (p.Ser2Cys) rs2101432066
NM_022089.4(ATP13A2):c.508G>A (p.Gly170Ser) rs762075619
NM_022089.4(ATP13A2):c.514C>T (p.Arg172Cys)
NM_022089.4(ATP13A2):c.524G>T (p.Trp175Leu) rs2077471676
NM_022089.4(ATP13A2):c.589G>A (p.Val197Ile)
NM_022089.4(ATP13A2):c.58A>C (p.Thr20Pro)
NM_022089.4(ATP13A2):c.598T>C (p.Ser200Pro)
NM_022089.4(ATP13A2):c.599C>G (p.Ser200Cys) rs2101047661
NM_022089.4(ATP13A2):c.629T>A (p.Met210Lys)
NM_022089.4(ATP13A2):c.631G>T (p.Val211Leu)
NM_022089.4(ATP13A2):c.703G>A (p.Glu235Lys)
NM_022089.4(ATP13A2):c.706-3C>T rs753707797
NM_022089.4(ATP13A2):c.710T>C (p.Leu237Pro)
NM_022089.4(ATP13A2):c.716C>T (p.Pro239Leu)
NM_022089.4(ATP13A2):c.73A>G (p.Ile25Val)
NM_022089.4(ATP13A2):c.811A>G (p.Ile271Val) rs561097876
NM_022089.4(ATP13A2):c.813C>G (p.Ile271Met) rs1557703924
NM_022089.4(ATP13A2):c.821C>T (p.Ser274Leu) rs1213129765
NM_022089.4(ATP13A2):c.835A>G (p.Arg279Gly)
NM_022089.4(ATP13A2):c.840+5G>A
NM_022089.4(ATP13A2):c.840G>T (p.Lys280Asn) rs1326739914
NM_022089.4(ATP13A2):c.841C>G (p.Gln281Glu) rs2077304764
NM_022089.4(ATP13A2):c.859G>A (p.Asp287Asn) rs764560082
NM_022089.4(ATP13A2):c.864G>A (p.Met288Ile) rs866353083
NM_022089.4(ATP13A2):c.896G>A (p.Arg299Gln)
NM_022089.4(ATP13A2):c.904G>A (p.Gly302Arg) rs948455777
NM_022089.4(ATP13A2):c.919G>A (p.Val307Met)
NM_022089.4(ATP13A2):c.940C>T (p.Pro314Ser) rs752006308
NM_022089.4(ATP13A2):c.955G>C (p.Val319Leu) rs1557702165
NM_025219.3(DNAJC5):c.*135C>T rs886056937
NM_025219.3(DNAJC5):c.*1391G>C rs886056944
NM_025219.3(DNAJC5):c.*177T>C rs2053674149
NM_025219.3(DNAJC5):c.*1836C>T rs752208413
NM_025219.3(DNAJC5):c.*1895C>G rs886056945
NM_025219.3(DNAJC5):c.*2191G>C rs550048168
NM_025219.3(DNAJC5):c.*2385G>T rs2053695885
NM_025219.3(DNAJC5):c.*243G>A rs886056938
NM_025219.3(DNAJC5):c.*2482G>C rs1300822328
NM_025219.3(DNAJC5):c.*273C>G rs886056939
NM_025219.3(DNAJC5):c.*2849A>G rs978741488
NM_025219.3(DNAJC5):c.*2913G>A rs539536316
NM_025219.3(DNAJC5):c.*2980C>A rs1600892537
NM_025219.3(DNAJC5):c.*2983C>T rs1251113332
NM_025219.3(DNAJC5):c.*298C>T rs915298444
NM_025219.3(DNAJC5):c.*3009G>A rs886056948
NM_025219.3(DNAJC5):c.*3184G>A rs185738914
NM_025219.3(DNAJC5):c.*3215C>G rs999925805
NM_025219.3(DNAJC5):c.*3224C>T rs2053704300
NM_025219.3(DNAJC5):c.*3239C>T rs886056950
NM_025219.3(DNAJC5):c.*3252G>A rs545688443
NM_025219.3(DNAJC5):c.*3608G>C rs2053707906
NM_025219.3(DNAJC5):c.*4070C>T rs3810500
NM_025219.3(DNAJC5):c.*412C>T rs886056941
NM_025219.3(DNAJC5):c.*4253C>G rs886056955
NM_025219.3(DNAJC5):c.*458G>A rs941396645
NM_025219.3(DNAJC5):c.*486G>A rs2053677825
NM_025219.3(DNAJC5):c.*66C>T rs2053672735
NM_025219.3(DNAJC5):c.*853C>A rs6011230
NM_025219.3(DNAJC5):c.*853C>T rs6011230
NM_025219.3(DNAJC5):c.*948G>A rs867566418
NM_025219.3(DNAJC5):c.-12+15G>T rs2053366716
NM_025219.3(DNAJC5):c.-194C>T rs886056925
NM_025219.3(DNAJC5):c.-89C>G rs886056933
NM_025219.3(DNAJC5):c.107+4A>C
NM_025219.3(DNAJC5):c.107+8G>T rs2053633876
NM_025219.3(DNAJC5):c.107G>A (p.Arg36Gln)
NM_025219.3(DNAJC5):c.107G>C (p.Arg36Pro)
NM_025219.3(DNAJC5):c.141C>A (p.Asn47Lys) rs1600885575
NM_025219.3(DNAJC5):c.147C>A (p.Asp49Glu)
NM_025219.3(DNAJC5):c.14G>A (p.Arg5Lys) rs1006274437
NM_025219.3(DNAJC5):c.153G>T (p.Pro51=) rs151265913
NM_025219.3(DNAJC5):c.193G>A (p.Ala65Thr) rs772453351
NM_025219.3(DNAJC5):c.19C>T (p.Arg7Cys)
NM_025219.3(DNAJC5):c.20G>A (p.Arg7His) rs2053633035
NM_025219.3(DNAJC5):c.211A>C (p.Thr71Pro) rs2146305478
NM_025219.3(DNAJC5):c.226T>C (p.Tyr76His) rs2053642970
NM_025219.3(DNAJC5):c.229G>T (p.Asp77Tyr) rs762638579
NM_025219.3(DNAJC5):c.232A>G (p.Lys78Glu) rs2053643194
NM_025219.3(DNAJC5):c.238G>A (p.Gly80Ser) rs1555879996
NM_025219.3(DNAJC5):c.242C>T (p.Ser81Leu) rs933246467
NM_025219.3(DNAJC5):c.264G>C (p.Glu88Asp)
NM_025219.3(DNAJC5):c.301C>G (p.Leu101Val) rs2053643951
NM_025219.3(DNAJC5):c.319A>C (p.Lys107Gln) rs2053644044
NM_025219.3(DNAJC5):c.321+19_321+20insTGTGCGGGCACCCGAGTCACTCCTGCCGTGCGGGCACCCGAGTCTCTCCTGC
NM_025219.3(DNAJC5):c.321+37_321+38insTCTCCTGCCGTGCGGGCACCCGAGTCACTCCTGCCGTGCGGGCACCCGAGTCACTCCTGCCGTGCGGGCACCCGAGTC
NM_025219.3(DNAJC5):c.322-3C>A rs777923854
NM_025219.3(DNAJC5):c.322G>T (p.Ala108Ser) rs1322303376
NM_025219.3(DNAJC5):c.334T>C (p.Phe112Leu)
NM_025219.3(DNAJC5):c.346C>T (p.Leu116Phe) rs2053663677
NM_025219.3(DNAJC5):c.400G>A (p.Gly134Arg)
NM_025219.3(DNAJC5):c.428G>C (p.Gly143Ala)
NM_025219.3(DNAJC5):c.42G>C (p.Glu14Asp) rs2053633217
NM_025219.3(DNAJC5):c.436_437delinsTT (p.Thr146Leu)
NM_025219.3(DNAJC5):c.438G>A (p.Thr146=) rs746222594
NM_025219.3(DNAJC5):c.448G>A (p.Val150Met) rs146719477
NM_025219.3(DNAJC5):c.454C>T (p.Pro152Ser)
NM_025219.3(DNAJC5):c.479A>G (p.Gln160Arg)
NM_025219.3(DNAJC5):c.482C>G (p.Ser161Cys)
NM_025219.3(DNAJC5):c.487G>C (p.Glu163Gln) rs773217530
NM_025219.3(DNAJC5):c.488A>G (p.Glu163Gly) rs2053665398
NM_025219.3(DNAJC5):c.491G>A (p.Arg164Lys) rs762961919
NM_025219.3(DNAJC5):c.493+1dup
NM_025219.3(DNAJC5):c.500C>T (p.Thr167Ile)
NM_025219.3(DNAJC5):c.504C>T (p.Asp168=) rs886056935
NM_025219.3(DNAJC5):c.506C>T (p.Thr169Met) rs777119527
NM_025219.3(DNAJC5):c.512T>G (p.Ile171Ser)
NM_025219.3(DNAJC5):c.518T>C (p.Ile173Thr)
NM_025219.3(DNAJC5):c.520C>T (p.Gln174Ter) rs2146309343
NM_025219.3(DNAJC5):c.522G>C (p.Gln174His)
NM_025219.3(DNAJC5):c.527C>T (p.Ala176Val) rs199540600
NM_025219.3(DNAJC5):c.52C>T (p.His18Tyr)
NM_025219.3(DNAJC5):c.532G>A (p.Ala178Thr) rs766374425
NM_025219.3(DNAJC5):c.538G>A (p.Glu180Lys)
NM_025219.3(DNAJC5):c.563C>T (p.Ser188Phe)
NM_025219.3(DNAJC5):c.578A>G (p.His193Arg)
NM_025219.3(DNAJC5):c.586G>A (p.Gly196Arg) rs748741035
NM_025219.3(DNAJC5):c.587G>A (p.Gly196Glu)
NM_025219.3(DNAJC5):c.70A>C (p.Lys24Gln)
NM_025219.3(DNAJC5):c.70A>G (p.Lys24Glu) rs1187650085
NM_025219.3(DNAJC5):c.74A>G (p.Asn25Ser) rs1348706291
NM_025219.3(DNAJC5):c.86A>G (p.Asp29Gly) rs1374320528
NM_025219.3(DNAJC5):c.87T>G (p.Asp29Glu) rs1555879894
NM_025219.3(DNAJC5):c.8A>G (p.Asp3Gly) rs755410138
NM_025219.3(DNAJC5):c.97A>C (p.Lys33Gln)
NM_153033.5(KCTD7):c.*1293A>G rs886062419
NM_153033.5(KCTD7):c.*1334T>C rs1786692699
NM_153033.5(KCTD7):c.*1740G>A rs886062420
NM_153033.5(KCTD7):c.*1911C>G rs565110569
NM_153033.5(KCTD7):c.*2163C>T rs375853768
NM_153033.5(KCTD7):c.*2175C>A rs369221941
NM_153033.5(KCTD7):c.*2692A>G rs573138370
NM_153033.5(KCTD7):c.*2837G>A rs1786731447
NM_153033.5(KCTD7):c.*2868C>T rs886062426
NM_153033.5(KCTD7):c.*2973G>A rs1786735065
NM_153033.5(KCTD7):c.*354C>G rs540871291
NM_153033.5(KCTD7):c.*3730C>T rs1786753910
NM_153033.5(KCTD7):c.*690G>A rs4718382
NM_153033.5(KCTD7):c.-145C>G rs886062409
NM_153033.5(KCTD7):c.-170G>T rs191169882
NM_153033.5(KCTD7):c.-87A>C rs886062411
NM_153033.5(KCTD7):c.104_115del (p.Ala35_Ala38del) rs778647590
NM_153033.5(KCTD7):c.109C>G (p.Gln37Glu)
NM_153033.5(KCTD7):c.113C>T (p.Ala38Val) rs373655601
NM_153033.5(KCTD7):c.128C>T (p.Pro43Leu)
NM_153033.5(KCTD7):c.143A>G (p.Glu48Gly)
NM_153033.5(KCTD7):c.144+3A>G rs1584392905
NM_153033.5(KCTD7):c.144+4C>A rs757018925
NM_153033.5(KCTD7):c.144G>A (p.Glu48=) rs2116755708
NM_153033.5(KCTD7):c.147T>G (p.Phe49Leu) rs2116763687
NM_153033.5(KCTD7):c.148C>G (p.Pro50Ala) rs1476493354
NM_153033.5(KCTD7):c.14C>G (p.Thr5Arg) rs1346070646
NM_153033.5(KCTD7):c.152A>T (p.Glu51Val) rs2116763702
NM_153033.5(KCTD7):c.153G>T (p.Glu51Asp) rs2116763706
NM_153033.5(KCTD7):c.154G>T (p.Val52Phe) rs2116763711
NM_153033.5(KCTD7):c.158T>C (p.Val53Ala) rs2116763713
NM_153033.5(KCTD7):c.169A>G (p.Ile57Val)
NM_153033.5(KCTD7):c.181C>G (p.His61Asp) rs368018261
NM_153033.5(KCTD7):c.188C>T (p.Thr63Ile) rs1258782993
NM_153033.5(KCTD7):c.18G>C (p.Gly6=) rs886062413
NM_153033.5(KCTD7):c.208C>T (p.Arg70Trp) rs867319899
NM_153033.5(KCTD7):c.224C>T (p.Thr75Ile)
NM_153033.5(KCTD7):c.231G>T (p.Leu77Phe) rs1786499355
NM_153033.5(KCTD7):c.235G>A (p.Ala79Thr)
NM_153033.5(KCTD7):c.238A>G (p.Met80Val) rs1554397798
NM_153033.5(KCTD7):c.26C>T (p.Pro9Leu)
NM_153033.5(KCTD7):c.278G>A (p.Gly93Asp) rs373509859
NM_153033.5(KCTD7):c.278G>C (p.Gly93Ala) rs373509859
NM_153033.5(KCTD7):c.291C>T (p.Ile97=) rs769023482
NM_153033.5(KCTD7):c.292G>A (p.Asp98Asn)
NM_153033.5(KCTD7):c.296G>T (p.Arg99Leu) rs1275877072
NM_153033.5(KCTD7):c.302G>A (p.Gly101Asp) rs1554397831
NM_153033.5(KCTD7):c.308A>G (p.His103Arg) rs2116764091
NM_153033.5(KCTD7):c.335G>A (p.Arg112His) rs774026720
NM_153033.5(KCTD7):c.346C>T (p.Leu116Phe) rs2116773826
NM_153033.5(KCTD7):c.35G>T (p.Arg12Leu) rs763423181
NM_153033.5(KCTD7):c.362G>A (p.Arg121His) rs199624315
NM_153033.5(KCTD7):c.368G>A (p.Arg123Gln)
NM_153033.5(KCTD7):c.371C>G (p.Ala124Gly) rs1786632902
NM_153033.5(KCTD7):c.385G>A (p.Ala129Thr)
NM_153033.5(KCTD7):c.419A>G (p.Gln140Arg)
NM_153033.5(KCTD7):c.428A>G (p.Asn143Ser) rs1786634540
NM_153033.5(KCTD7):c.431T>A (p.Met144Lys)
NM_153033.5(KCTD7):c.440T>C (p.Leu147Pro) rs775109352
NM_153033.5(KCTD7):c.448G>A (p.Glu150Lys)
NM_153033.5(KCTD7):c.457C>T (p.Arg153Cys) rs761707159
NM_153033.5(KCTD7):c.45C>A (p.Asp15Glu) rs751937729
NM_153033.5(KCTD7):c.463G>A (p.Ala155Thr) rs2116774076
NM_153033.5(KCTD7):c.46G>A (p.Gly16Ser) rs1450028260
NM_153033.5(KCTD7):c.46G>T (p.Gly16Cys) rs1450028260
NM_153033.5(KCTD7):c.472G>A (p.Gly158Arg)
NM_153033.5(KCTD7):c.481C>T (p.Pro161Ser)
NM_153033.5(KCTD7):c.485A>T (p.Tyr162Phe) rs2116774109
NM_153033.5(KCTD7):c.493+3G>C
NM_153033.5(KCTD7):c.494A>G (p.Asp165Gly)
NM_153033.5(KCTD7):c.501G>C (p.Leu167Phe)
NM_153033.5(KCTD7):c.505C>T (p.Arg169Trp)
NM_153033.5(KCTD7):c.517A>C (p.Ile173Leu)
NM_153033.5(KCTD7):c.518T>A (p.Ile173Asn)
NM_153033.5(KCTD7):c.523C>G (p.Arg175Gly) rs568539835
NM_153033.5(KCTD7):c.536T>C (p.Val179Ala) rs1362176294
NM_153033.5(KCTD7):c.53T>A (p.Met18Lys) rs777578179
NM_153033.5(KCTD7):c.569T>C (p.Val190Ala)
NM_153033.5(KCTD7):c.601C>A (p.Pro201Thr) rs2116775195
NM_153033.5(KCTD7):c.605A>G (p.Tyr202Cys) rs1786649598
NM_153033.5(KCTD7):c.611G>A (p.Cys204Tyr) rs1786649821
NM_153033.5(KCTD7):c.616C>A (p.Leu206Ile)
NM_153033.5(KCTD7):c.628C>G (p.Leu210Val)
NM_153033.5(KCTD7):c.636T>A (p.Phe212Leu) rs752360120
NM_153033.5(KCTD7):c.636T>G (p.Phe212Leu) rs752360120
NM_153033.5(KCTD7):c.64G>A (p.Asp22Asn) rs1390049689
NM_153033.5(KCTD7):c.650G>A (p.Ser217Asn) rs1786651523
NM_153033.5(KCTD7):c.677G>C (p.Cys226Ser) rs1554300943
NM_153033.5(KCTD7):c.681A>T (p.Glu227Asp)
NM_153033.5(KCTD7):c.698G>A (p.Gly233Glu) rs2116775521
NM_153033.5(KCTD7):c.704G>C (p.Trp235Ser) rs796052689
NM_153033.5(KCTD7):c.710C>G (p.Ala237Gly) rs1584399776
NM_153033.5(KCTD7):c.71A>G (p.Glu24Gly) rs2116755505
NM_153033.5(KCTD7):c.727G>A (p.Asp243Asn) rs2116775565
NM_153033.5(KCTD7):c.758C>T (p.Ser253Leu) rs761940050
NM_153033.5(KCTD7):c.769C>G (p.Leu257Val) rs1554300955
NM_153033.5(KCTD7):c.773C>A (p.Thr258Asn) rs1786653994
NM_153033.5(KCTD7):c.77A>G (p.Asp26Gly)
NM_153033.5(KCTD7):c.784C>G (p.Gln262Glu) rs886043127
NM_153033.5(KCTD7):c.790A>C (p.Ile264Leu) rs763830869
NM_153033.5(KCTD7):c.793G>A (p.Gly265Arg) rs200415747
NM_153033.5(KCTD7):c.796G>T (p.Val266Leu) rs1297799073
NM_153033.5(KCTD7):c.807G>T (p.Lys269Asn)
NM_153033.5(KCTD7):c.811C>G (p.Leu271Val) rs2116775776
NM_153033.5(KCTD7):c.821A>G (p.His274Arg) rs2116775801
NM_153033.5(KCTD7):c.845A>G (p.Tyr282Cys) rs1264632322
NM_153033.5(KCTD7):c.857T>A (p.Ile286Asn) rs2116775902
NM_153033.5(KCTD7):c.861_863del (p.Trp289del) rs2116775918
NM_153033.5(KCTD7):c.98_109del (p.Pro33_Thr36del) rs753399965

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