ClinVar Miner

List of variants studied for cerebral lipidosis with dementia by Invitae

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7203
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000521.4(HEXB):c.185T>C (p.Leu62Ser) rs820878 0.97243
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431 0.87890
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502 0.87885
NM_003793.4(CTSF):c.1401T>C (p.Arg467=) rs572846 0.62182
NM_003793.4(CTSF):c.762G>A (p.Arg254=) rs545009 0.62158
NM_003793.4(CTSF):c.219T>C (p.Gly73=) rs1127894 0.62142
NM_022089.4(ATP13A2):c.705+228A>G rs2871776 0.56136
NM_000521.4(HEXB):c.-126C>T rs71627068 0.55186
NM_000521.4(HEXB):c.-122del rs70976124 0.55177
NM_022089.4(ATP13A2):c.1815C>T (p.Pro605=) rs2076603 0.55111
NM_022089.4(ATP13A2):c.2970G>A (p.Val990=) rs761421 0.41522
NM_002087.4(GRN):c.*78C>T rs5848 0.41298
NM_022089.4(ATP13A2):c.3192C>T (p.Ala1064=) rs9435659 0.40884
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=) rs3170740 0.40860
NM_022089.4(ATP13A2):c.2637C>T (p.Gly879=) rs9435662 0.40757
NM_022089.4(ATP13A2):c.3084-3C>T rs7531163 0.23688
NM_003793.4(CTSF):c.126C>T (p.Pro42=) rs1044522 0.22868
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg) rs11556045 0.20835
NM_022089.4(ATP13A2):c.2790G>A (p.Ser930=) rs3738815 0.20463
NM_002087.4(GRN):c.-8+46G>T rs564341543 0.19681
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19521
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) rs10805890 0.12644
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg) rs77595156 0.11421
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039 0.08387
NM_025219.3(DNAJC5):c.321+20C>T rs2295436 0.07912
NM_006493.4(CLN5):c.-76A>G rs7987664 0.07840
NM_025219.3(DNAJC5):c.322-10C>T rs78457562 0.07717
NM_003793.4(CTSF):c.722-5C>T rs78871927 0.06870
NM_000521.4(HEXB):c.772-4A>G rs17561000 0.06806
NM_001909.5(CTSD):c.353-17C>T rs7126177 0.06731
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003 0.06494
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571 0.06134
NM_001909.5(CTSD):c.231C>T (p.Ala77=) rs2230067 0.06127
NM_006493.4(CLN5):c.173+18C>T rs112141862 0.05807
NM_001909.5(CTSD):c.828-17G>A rs78735768 0.05315
NM_002087.4(GRN):c.835+7G>A rs72824736 0.04753
NM_022089.4(ATP13A2):c.1005C>T (p.Ala335=) rs56290406 0.04044
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=) rs56126202 0.03793
NM_006493.4(CLN5):c.173+8C>T rs9565308 0.03653
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430 0.03370
NM_006493.4(CLN5):c.1041T>C (p.Pro347=) rs36038805 0.03060
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_000521.3(HEXB):c.185C>T (p.Ser62Leu) rs820878 0.02757
NM_002087.4(GRN):c.384T>C (p.Asp128=) rs25646 0.02616
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471 0.02484
NM_022089.4(ATP13A2):c.3235+17G>A rs56146840 0.02453
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_003793.4(CTSF):c.418G>A (p.Ala140Thr) rs79274952 0.01384
NM_006493.4(CLN5):c.381T>G (p.Thr127=) rs34481987 0.01377
NM_025219.3(DNAJC5):c.144C>T (p.Pro48=) rs113987077 0.01342
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_002087.4(GRN):c.55C>T (p.Arg19Trp) rs63750723 0.01303
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377 0.01277
NM_022089.4(ATP13A2):c.1617G>T (p.Leu539=) rs61739752 0.01259
NM_001909.5(CTSD):c.189C>T (p.Thr63=) rs114051835 0.01221
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069 0.01203
NM_018941.4(CLN8):c.274C>T (p.His92Tyr) rs34030778 0.01138
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_022089.4(ATP13A2):c.2763-16G>A rs114407349 0.01044
NM_000521.4(HEXB):c.449C>A (p.Thr150Asn) rs148268937 0.00967
NM_000521.4(HEXB):c.1258A>G (p.Ile420Val) rs77499935 0.00923
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala) rs150047904 0.00893
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala) rs25647 0.00781
NM_003793.4(CTSF):c.1322-19G>A rs73505406 0.00770
NM_003793.4(CTSF):c.1368C>T (p.Asp456=) rs148155987 0.00759
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126 0.00758
NM_003793.4(CTSF):c.939G>A (p.Gly313=) rs114727660 0.00758
NM_003793.4(CTSF):c.1261C>T (p.Arg421Trp) rs28464796 0.00735
NM_022089.4(ATP13A2):c.145G>A (p.Gly49Ser) rs56379718 0.00681
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302 0.00650
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr) rs151181674 0.00646
NM_002087.3(GRN):c.-72G>T rs76783532 0.00635
NM_000521.4(HEXB):c.1051T>C (p.Leu351=) rs114661695 0.00596
NM_022089.4(ATP13A2):c.1195+10G>A rs55689004 0.00585
NM_000521.4(HEXB):c.276C>T (p.Thr92=) rs140509633 0.00569
NM_001909.5(CTSD):c.846G>A (p.Gly282=) rs112021026 0.00567
NM_001909.5(CTSD):c.1072-7G>A rs149019571 0.00560
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335 0.00559
NM_017882.3(CLN6):c.298-6C>T rs117038427 0.00549
NM_002087.4(GRN):c.264+7G>A rs60100877 0.00548
NM_002087.4(GRN):c.42G>A (p.Leu14=) rs111435385 0.00533
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp) rs63750412 0.00523
NM_022089.4(ATP13A2):c.453C>T (p.Ser151=) rs55979991 0.00505
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met) rs2229381 0.00498
NM_001909.5(CTSD):c.828-19A>C rs200047861 0.00494
NM_022089.4(ATP13A2):c.2093T>C (p.Val698Ala) rs61734958 0.00485
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143 0.00475
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691 0.00471
NM_001909.5(CTSD):c.353-12C>T rs141523461 0.00468
NM_003793.4(CTSF):c.1158C>T (p.Asn386=) rs116329758 0.00447
NM_000520.6(HEXA):c.673-13T>C rs75211071 0.00438
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345 0.00412
NM_000784.4(CYP27A1):c.673C>T (p.Arg225Cys) rs114768494 0.00403
NM_001042432.2(CLN3):c.771G>A (p.Glu257=) rs73533466 0.00402
NM_002087.4(GRN):c.545C>T (p.Thr182Met) rs63750479 0.00356
NM_022089.4(ATP13A2):c.2724G>A (p.Ser908=) rs79724242 0.00341
NM_002087.4(GRN):c.546G>A (p.Thr182=) rs138473783 0.00335
NM_018941.4(CLN8):c.777T>C (p.Asn259=) rs34814682 0.00334
NM_002087.4(GRN):c.1227G>A (p.Thr409=) rs140298583 0.00326
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=) rs56351817 0.00324
NM_025219.3(DNAJC5):c.132C>T (p.Pro44=) rs140948457 0.00314
NM_001042432.2(CLN3):c.313A>G (p.Ile105Val) rs11552531 0.00312
NM_003793.4(CTSF):c.458A>G (p.Gln153Arg) rs11550508 0.00311
NM_006493.4(CLN5):c.-87C>T rs200353554 0.00309
NM_003793.4(CTSF):c.1231-13T>C rs199830949 0.00298
NM_001909.5(CTSD):c.912G>A (p.Pro304=) rs140238987 0.00281
NM_003793.4(CTSF):c.676C>T (p.Arg226Cys) rs143313688 0.00277
NM_002087.4(GRN):c.1298G>A (p.Arg433Gln) rs114248177 0.00247
NM_018941.4(CLN8):c.290G>A (p.Arg97His) rs116605307 0.00236
NM_022089.4(ATP13A2):c.3342C>T (p.Thr1114=) rs115985012 0.00228
NM_022089.4(ATP13A2):c.1195+9C>T rs117758987 0.00227
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=) rs75897848 0.00225
NM_003793.4(CTSF):c.130C>T (p.Arg44Cys) rs573483617 0.00221
NM_000784.4(CYP27A1):c.1505C>A (p.Ala502Asp) rs140842830 0.00215
NM_001909.5(CTSD):c.951C>T (p.Ala317=) rs78306946 0.00211
NM_006493.4(CLN5):c.-99G>C rs202118652 0.00208
NM_017882.3(CLN6):c.840G>A (p.Leu280=) rs148949069 0.00198
NM_001909.5(CTSD):c.639C>G (p.Pro213=) rs146073498 0.00197
NM_022089.4(ATP13A2):c.2367C>T (p.Leu789=) rs140048110 0.00195
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970 0.00190
NM_000521.4(HEXB):c.383T>G (p.Leu128Arg) rs113678356 0.00177
NM_003793.4(CTSF):c.1321C>T (p.Arg441Cys) rs150922871 0.00177
NM_018941.4(CLN8):c.11C>T (p.Ala4Val) rs147181589 0.00175
NM_000520.6(HEXA):c.346+13C>T rs200871198 0.00173
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698 0.00169
NM_000520.6(HEXA):c.1146+8G>A rs201453018 0.00167
NM_006493.4(CLN5):c.705G>A (p.Val235=) rs116531784 0.00163
NM_022089.4(ATP13A2):c.3406-14C>T rs139088170 0.00163
NM_017882.3(CLN6):c.339G>A (p.Thr113=) rs146135801 0.00141
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483 0.00140
NM_025219.3(DNAJC5):c.456C>T (p.Pro152=) rs140326040 0.00130
NM_022089.4(ATP13A2):c.706-14C>T rs371532404 0.00128
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=) rs144557304 0.00127
NM_022089.4(ATP13A2):c.7G>C (p.Ala3Pro) rs549839037 0.00122
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) rs547125345 0.00120
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787 0.00116
NM_001042432.2(CLN3):c.318C>T (p.Leu106=) rs148248159 0.00115
NM_002087.4(GRN):c.970G>A (p.Ala324Thr) rs63750541 0.00112
NM_022089.4(ATP13A2):c.2348G>A (p.Arg783Gln) rs137955309 0.00108
NM_000520.6(HEXA):c.69C>G (p.Leu23=) rs143554538 0.00107
NM_000784.4(CYP27A1):c.646+4C>T rs191313794 0.00105
NM_003793.4(CTSF):c.683C>G (p.Thr228Arg) rs148611356 0.00105
NM_006493.4(CLN5):c.-146T>C rs201615354 0.00104
NM_017882.3(CLN6):c.270C>T (p.Asn90=) rs145247814 0.00104
NM_001042432.2(CLN3):c.768C>T (p.Thr256=) rs145967477 0.00103
NM_025219.3(DNAJC5):c.107+10C>T rs181906972 0.00101
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137 0.00100
NM_000784.4(CYP27A1):c.1104G>A (p.Val368=) rs151064520 0.00093
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_022089.4(ATP13A2):c.841-4A>G rs112549590 0.00090
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_002087.4(GRN):c.228C>T (p.Thr76=) rs144736470 0.00086
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys) rs149897566 0.00083
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_002087.4(GRN):c.1126G>A (p.Asp376Asn) rs143030899 0.00082
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val) rs149372969 0.00081
NM_000521.4(HEXB):c.1082+13C>T rs201428805 0.00080
NM_000784.4(CYP27A1):c.1102G>T (p.Val368Leu) rs145722193 0.00080
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr) rs63750043 0.00076
NM_022089.4(ATP13A2):c.106-8G>A rs200587951 0.00075
NM_001042432.2(CLN3):c.238A>T (p.Thr80Ser) rs150348015 0.00074
NM_025219.3(DNAJC5):c.107+12A>G rs372843187 0.00074
NM_018941.4(CLN8):c.513C>G (p.Pro171=) rs376910635 0.00073
NM_022089.4(ATP13A2):c.3529G>A (p.Gly1177Ser) rs547860186 0.00072
NM_022089.4(ATP13A2):c.2942C>T (p.Thr981Met) rs148201608 0.00070
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu) rs146579299 0.00068
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu) rs757712173 0.00067
NM_002087.4(GRN):c.708+8A>T rs370878457 0.00066
NM_025219.3(DNAJC5):c.45A>G (p.Ser15=) rs144141585 0.00066
NM_018941.4(CLN8):c.546G>A (p.Ala182=) rs144047076 0.00064
NM_000521.4(HEXB):c.1417+11C>T rs146572414 0.00062
NM_002087.4(GRN):c.253C>G (p.Pro85Ala) rs143560849 0.00058
NM_006493.4(CLN5):c.459G>A (p.Met153Ile) rs144656959 0.00058
NM_022089.4(ATP13A2):c.106-14C>T rs199706883 0.00054
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00053
NM_002087.4(GRN):c.1515C>T (p.Ala505=) rs147495221 0.00052
NM_002087.4(GRN):c.393C>G (p.Phe131Leu) rs149180605 0.00052
NM_000521.4(HEXB):c.715G>A (p.Val239Ile) rs145056714 0.00051
NM_001042432.2(CLN3):c.963-16C>G rs200023908 0.00051
NM_022089.4(ATP13A2):c.3405+9C>T rs374766933 0.00051
NM_025219.3(DNAJC5):c.282C>T (p.Asn94=) rs113207069 0.00051
NM_003793.4(CTSF):c.213+7A>T rs761072570 0.00050
NM_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_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_001042432.2(CLN3):c.831G>A (p.Val277=) rs1142183 0.00045
NM_002087.4(GRN):c.513C>T (p.Cys171=) rs147974849 0.00044
NM_002087.4(GRN):c.903G>A (p.Ser301=) rs63750142 0.00044
NM_022089.4(ATP13A2):c.3235+20C>T rs376475762 0.00044
NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val) rs145515028 0.00044
NM_022089.4(ATP13A2):c.2160G>T (p.Gly720=) rs61999317 0.00043
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088 0.00042
NM_002087.4(GRN):c.981G>A (p.Thr327=) rs145655086 0.00041
NM_017882.3(CLN6):c.822G>A (p.Ala274=) rs151186473 0.00041
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=) rs201206239 0.00040
NM_001909.5(CTSD):c.75G>A (p.Pro25=) rs140563067 0.00040
NM_001909.5(CTSD):c.353-11G>A rs372689713 0.00039
NM_003793.4(CTSF):c.1407C>T (p.Ser469=) rs144556402 0.00039
NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=) rs184878897 0.00039
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038 0.00038
NM_000784.4(CYP27A1):c.958C>T (p.Leu320Phe) rs367855115 0.00038
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) rs138596741 0.00037
NM_022089.4(ATP13A2):c.2020G>A (p.Ala674Thr) rs143834546 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.42C>A (p.Gly14=) rs373776911 0.00036
NM_000521.4(HEXB):c.1248G>A (p.Ala416=) rs137915238 0.00035
NM_022089.4(ATP13A2):c.1039+6C>T rs565724504 0.00035
NM_022089.4(ATP13A2):c.1203C>T (p.Cys401=) rs148026506 0.00035
NM_000521.4(HEXB):c.1437A>C (p.Gln479His) rs139129900 0.00034
NM_000784.4(CYP27A1):c.891G>T (p.Leu297=) rs144455258 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_000520.6(HEXA):c.8G>C (p.Ser3Thr) rs374524755 0.00031
NM_000521.4(HEXB):c.918G>C (p.Leu306=) rs140607282 0.00031
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_001042432.2(CLN3):c.678-18C>A rs370158185 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_022089.4(ATP13A2):c.3207G>A (p.Ala1069=) rs137877665 0.00031
NM_025219.3(DNAJC5):c.228C>T (p.Tyr76=) rs201495666 0.00031
NM_022089.4(ATP13A2):c.2619G>C (p.Val873=) rs199994961 0.00030
NM_000520.6(HEXA):c.1338T>C (p.Pro446=) rs34085965 0.00029
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_000784.4(CYP27A1):c.148G>A (p.Val50Ile) rs149101812 0.00027
NM_001909.5(CTSD):c.154G>A (p.Val52Ile) rs143517230 0.00026
NM_003793.4(CTSF):c.214-6C>T rs376579629 0.00026
NM_006493.4(CLN5):c.1045C>T (p.Pro349Ser) rs41287036 0.00026
NM_022089.4(ATP13A2):c.2610-9T>C rs376189607 0.00026
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr) rs147800688 0.00025
NM_003793.4(CTSF):c.1046-2A>C rs141915593 0.00025
NM_022089.4(ATP13A2):c.2404G>A (p.Gly802Ser) rs752487771 0.00025
NM_022089.4(ATP13A2):c.472G>A (p.Gly158Arg) rs113643181 0.00025
NM_000784.4(CYP27A1):c.1564G>A (p.Val522Met) rs151117761 0.00024
NM_002087.4(GRN):c.276C>T (p.Cys92=) rs146792371 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_001042432.2(CLN3):c.616G>A (p.Gly206Ser) rs370603922 0.00023
NM_001042432.2(CLN3):c.790+16C>A rs200731769 0.00023
NM_022089.4(ATP13A2):c.2198C>T (p.Thr733Met) rs201883464 0.00023
NM_001042432.2(CLN3):c.45G>A (p.Glu15=) rs201824641 0.00022
NM_001909.5(CTSD):c.828-18C>T rs377228580 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_017882.3(CLN6):c.84-18C>T rs201554701 0.00022
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_000784.4(CYP27A1):c.609G>A (p.Ser203=) rs148132118 0.00021
NM_001909.5(CTSD):c.228+18G>T rs376354665 0.00021
NM_002087.4(GRN):c.360C>T (p.Ser120=) rs375183423 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.2043A>G (p.Thr681=) rs143828547 0.00021
NM_022089.4(ATP13A2):c.36G>A (p.Thr12=) rs61741838 0.00021
NM_000784.4(CYP27A1):c.1028C>T (p.Thr343Met) rs372194079 0.00020
NM_001909.5(CTSD):c.68+10C>T rs760082760 0.00020
NM_003793.4(CTSF):c.45G>T (p.Pro15=) rs117792851 0.00020
NM_017882.3(CLN6):c.741C>T (p.His247=) rs140653271 0.00020
NM_018941.4(CLN8):c.619C>G (p.Leu207Val) rs151334741 0.00020
NM_022089.4(ATP13A2):c.2685G>A (p.Leu895=) rs138437271 0.00020
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp) rs138058578 0.00019
NM_000520.6(HEXA):c.1216C>T (p.Leu406=) rs140482769 0.00019
NM_000520.6(HEXA):c.1421+14G>C rs201497629 0.00019
NM_000521.4(HEXB):c.1614-14C>A rs201448394 0.00019
NM_000784.4(CYP27A1):c.1434C>T (p.Gly478=) rs139279260 0.00019
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636 0.00019
NM_001909.5(CTSD):c.240C>T (p.Tyr80=) rs147641822 0.00019
NM_001909.5(CTSD):c.294G>A (p.Thr98=) rs369373285 0.00019
NM_002087.4(GRN):c.705C>A (p.Pro235=) rs148507354 0.00019
NM_003793.4(CTSF):c.19C>T (p.Leu7Phe) rs544669445 0.00019
NM_017882.3(CLN6):c.487-8T>C rs202046680 0.00019
NM_018941.4(CLN8):c.50A>G (p.Asp17Gly) rs148668081 0.00019
NM_000520.6(HEXA):c.545C>T (p.Pro182Leu) rs148511084 0.00018
NM_002087.4(GRN):c.287A>G (p.His96Arg) rs139272628 0.00018
NM_002087.4(GRN):c.349+12G>T rs367640963 0.00018
NM_018941.4(CLN8):c.318C>T (p.His106=) rs184988046 0.00018
NM_022089.4(ATP13A2):c.1543-9C>T rs563459900 0.00018
NM_000520.6(HEXA):c.517C>T (p.Leu173=) rs200743199 0.00017
NM_000521.4(HEXB):c.299+7G>C rs371930917 0.00017
NM_001042432.2(CLN3):c.392G>A (p.Ser131Asn) rs144770450 0.00017
NM_022089.4(ATP13A2):c.1353+8T>C rs369680614 0.00017
NM_000520.6(HEXA):c.1475A>G (p.Asp492Gly) rs761736583 0.00016
NM_000520.6(HEXA):c.582G>A (p.Ala194=) rs112614306 0.00016
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr) rs140627230 0.00016
NM_000521.4(HEXB):c.1670A>G (p.Ter557=) rs576145664 0.00016
NM_000784.4(CYP27A1):c.1017+5G>A rs370304209 0.00016
NM_000784.4(CYP27A1):c.1184+9G>T rs200457116 0.00016
NM_000784.4(CYP27A1):c.120C>T (p.Ala40=) rs150389057 0.00016
NM_000784.4(CYP27A1):c.1343G>A (p.Arg448His) rs370868184 0.00016
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=) rs142623022 0.00016
NM_001042432.2(CLN3):c.537C>T (p.Ala179=) rs147667964 0.00016
NM_003793.4(CTSF):c.1203C>T (p.Ser401=) rs139027846 0.00016
NM_006493.4(CLN5):c.565+3_565+4dup rs745312608 0.00016
NM_018941.4(CLN8):c.806A>T (p.Glu269Val) rs139003032 0.00016
NM_022089.4(ATP13A2):c.2592C>T (p.Cys864=) rs777472886 0.00016
NM_000520.6(HEXA):c.1229C>T (p.Ala410Val) rs151251788 0.00015
NM_000520.6(HEXA):c.1443C>T (p.Ala481=) rs140091006 0.00015
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_000784.4(CYP27A1):c.784C>T (p.Arg262Cys) rs778371330 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.1108C>T (p.Arg370Trp) rs142616130 0.00015
NM_022089.4(ATP13A2):c.3327G>A (p.Arg1109=) rs112261486 0.00015
NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln) rs138189735 0.00014
NM_001042432.2(CLN3):c.174C>T (p.Ala58=) rs138433617 0.00014
NM_001909.5(CTSD):c.758A>G (p.Lys253Arg) rs138191189 0.00014
NM_002087.4(GRN):c.1539C>T (p.His513=) rs772977073 0.00014
NM_002087.4(GRN):c.279G>A (p.Gly93=) rs63751088 0.00014
NM_018941.4(CLN8):c.207G>A (p.Thr69=) rs368365607 0.00014
NM_022089.4(ATP13A2):c.106-5C>T rs117838709 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_000521.4(HEXB):c.558+16A>G rs191028207 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_001909.5(CTSD):c.1077G>A (p.Ser359=) rs138940129 0.00013
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile) rs202073338 0.00013
NM_001909.5(CTSD):c.1230C>T (p.Ala410=) rs772742148 0.00013
NM_001909.5(CTSD):c.142G>A (p.Ala48Thr) rs555516403 0.00013
NM_001909.5(CTSD):c.957G>A (p.Pro319=) rs369229897 0.00013
NM_017882.3(CLN6):c.477G>A (p.Pro159=) rs370811678 0.00013
NM_018941.4(CLN8):c.200C>T (p.Ala67Val) rs373957283 0.00013
NM_022089.4(ATP13A2):c.1080G>C (p.Gly360=) rs55943100 0.00013
NM_022089.4(ATP13A2):c.1196-14C>T rs200896109 0.00013
NM_022089.4(ATP13A2):c.1975C>T (p.Leu659=) rs755284799 0.00013
NM_022089.4(ATP13A2):c.2951C>T (p.Ala984Val) rs375552345 0.00013
NM_022089.4(ATP13A2):c.3040G>A (p.Gly1014Ser) rs202166353 0.00013
NM_022089.4(ATP13A2):c.3235+13G>A rs369278996 0.00013
NM_025219.3(DNAJC5):c.324C>G (p.Ala108=) rs141103374 0.00013
NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln) rs370266293 0.00012
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser) rs369117208 0.00012
NM_000521.4(HEXB):c.1536A>G (p.Arg512=) rs139971120 0.00012
NM_000521.4(HEXB):c.1589C>G (p.Thr530Arg) rs531151091 0.00012
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984 0.00012
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030 0.00012
NM_001909.5(CTSD):c.1202A>G (p.Asn401Ser) rs147553344 0.00012
NM_001909.5(CTSD):c.90G>A (p.Thr30=) rs368529527 0.00012
NM_003793.4(CTSF):c.780G>A (p.Lys260=) rs140002533 0.00012
NM_018941.4(CLN8):c.333G>A (p.Thr111=) rs377273687 0.00012
NM_022089.4(ATP13A2):c.1171G>A (p.Val391Ile) rs113105667 0.00012
NM_022089.4(ATP13A2):c.1711G>A (p.Asp571Asn) rs369863178 0.00012
NM_022089.4(ATP13A2):c.192C>T (p.Leu64=) rs576096315 0.00012
NM_022089.4(ATP13A2):c.3329A>G (p.Asn1110Ser) rs758675397 0.00012
NM_022089.4(ATP13A2):c.356C>T (p.Pro119Leu) rs752619582 0.00012
NM_025219.3(DNAJC5):c.531C>T (p.Ser177=) rs376694698 0.00012
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro) rs146938346 0.00011
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406 0.00011
NM_000520.6(HEXA):c.548T>A (p.Leu183His) rs185797496 0.00011
NM_000520.6(HEXA):c.836C>G (p.Ser279Cys) rs148199798 0.00011
NM_000521.4(HEXB):c.978G>C (p.Leu326=) rs138261300 0.00011
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_000784.4(CYP27A1):c.355C>T (p.Arg119Trp) rs369294392 0.00011
NM_001042432.2(CLN3):c.1022G>A (p.Arg341His) rs201271341 0.00011
NM_001042432.2(CLN3):c.49G>A (p.Glu17Lys) rs386833726 0.00011
NM_001909.5(CTSD):c.100C>T (p.Arg34Trp) rs779278368 0.00011
NM_001909.5(CTSD):c.1122C>T (p.Asp374=) rs145821780 0.00011
NM_001909.5(CTSD):c.592A>G (p.Ile198Val) rs556334193 0.00011
NM_002087.4(GRN):c.507C>G (p.Ala169=) rs113426443 0.00011
NM_003793.4(CTSF):c.597G>A (p.Glu199=) rs200932066 0.00011
NM_006493.4(CLN5):c.1026A>G (p.Thr342=) rs200637649 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.1536C>T (p.Phe512=) rs536306337 0.00011
NM_022089.4(ATP13A2):c.1767G>A (p.Pro589=) rs752208167 0.00011
NM_022089.4(ATP13A2):c.252C>T (p.His84=) rs554944790 0.00011
NM_022089.4(ATP13A2):c.2593G>A (p.Glu865Lys) rs148534162 0.00011
NM_022089.4(ATP13A2):c.2655C>T (p.Ala885=) rs371975975 0.00011
NM_022089.4(ATP13A2):c.3439C>T (p.Arg1147Cys) rs370421723 0.00011
NM_025219.3(DNAJC5):c.188C>T (p.Ala63Val) rs139312819 0.00011
NM_000520.6(HEXA):c.581C>T (p.Ala194Val) rs778947516 0.00010
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=) rs200553205 0.00010
NM_000784.4(CYP27A1):c.1413T>C (p.Tyr471=) rs549032526 0.00010
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met) rs200604732 0.00010
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp) rs201114717 0.00010
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609 0.00010
NM_001042432.2(CLN3):c.1163C>T (p.Ala388Val) rs148514847 0.00010
NM_001042432.2(CLN3):c.361C>G (p.Leu121Val) rs752282954 0.00010
NM_001042432.2(CLN3):c.938T>C (p.Leu313Pro) rs141816714 0.00010
NM_001909.5(CTSD):c.14G>C (p.Ser5Thr) rs764386803 0.00010
NM_001909.5(CTSD):c.471+16G>A rs567387961 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_002087.4(GRN):c.836-8C>T rs376226985 0.00010
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 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.233G>A (p.Arg78Gln) rs773087322 0.00010
NM_022089.4(ATP13A2):c.2709C>G (p.Val903=) rs145455452 0.00010
NM_022089.4(ATP13A2):c.839A>G (p.Lys280Arg) rs148094721 0.00010
NM_022089.4(ATP13A2):c.844A>T (p.Ser282Cys) rs538497077 0.00010
NM_025219.3(DNAJC5):c.75C>T (p.Asn25=) rs189308547 0.00010
NM_000520.6(HEXA):c.1330+16T>G rs371435283 0.00009
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser) rs200936836 0.00009
NM_000520.6(HEXA):c.38C>T (p.Ala13Val) rs145666272 0.00009
NM_000520.6(HEXA):c.459+5G>A rs762060470 0.00009
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_000784.4(CYP27A1):c.387C>T (p.Asp129=) rs1426398337 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_002087.4(GRN):c.1449G>A (p.Pro483=) rs150294858 0.00009
NM_002087.4(GRN):c.1647C>T (p.Gly549=) rs745391227 0.00009
NM_002087.4(GRN):c.329G>A (p.Arg110Gln) rs375439809 0.00009
NM_002087.4(GRN):c.429C>T (p.Val143=) rs369649646 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_003793.4(CTSF):c.810C>T (p.Leu270=) rs147398226 0.00009
NM_003793.4(CTSF):c.868-17C>G rs554536950 0.00009
NM_006493.4(CLN5):c.-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.417C>T (p.Phe139=) rs371229525 0.00009
NM_006493.4(CLN5):c.812A>G (p.Asn271Ser) rs199609750 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.255C>T (p.Ala85=) rs369906056 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.477+2T>G rs758014228 0.00009
NM_022089.4(ATP13A2):c.588C>T (p.Asp196=) rs147384248 0.00009
NM_022089.4(ATP13A2):c.635+15G>A rs563778719 0.00009
NM_022089.4(ATP13A2):c.880C>T (p.Arg294Trp) rs144898239 0.00009
NM_025219.3(DNAJC5):c.237C>T (p.Tyr79=) rs149971662 0.00009
NM_025219.3(DNAJC5):c.494-20C>T rs377764458 0.00009
NM_000520.6(HEXA):c.855C>T (p.Gly285=) rs768518776 0.00008
NM_000521.4(HEXB):c.1279A>G (p.Ser427Gly) rs749347602 0.00008
NM_000521.4(HEXB):c.216C>T (p.Leu72=) rs780221860 0.00008
NM_000784.4(CYP27A1):c.1297C>T (p.Arg433Trp) rs143002163 0.00008
NM_000784.4(CYP27A1):c.446C>T (p.Thr149Met) rs776992864 0.00008
NM_001042432.2(CLN3):c.1209G>A (p.Glu403=) rs377369610 0.00008
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 0.00008
NM_001909.5(CTSD):c.1137C>T (p.Ser379=) rs141981301 0.00008
NM_001909.5(CTSD):c.471+15G>C rs201413619 0.00008
NM_001909.5(CTSD):c.630C>T (p.Asn210=) rs375282504 0.00008
NM_002087.4(GRN):c.1341C>T (p.His447=) rs63750775 0.00008
NM_002087.4(GRN):c.229G>A (p.Val77Ile) rs148531161 0.00008
NM_002087.4(GRN):c.615G>A (p.Ser205=) rs372963871 0.00008
NM_002087.4(GRN):c.626C>T (p.Pro209Leu) rs368995988 0.00008
NM_006493.2(CLN5):c.52C>T (p.Gln18Ter) rs773979248 0.00008
NM_006493.4(CLN5):c.-47C>G rs937545860 0.00008
NM_006493.4(CLN5):c.120C>T (p.Gly40=) rs370320230 0.00008
NM_017882.3(CLN6):c.798C>T (p.Phe266=) rs140319056 0.00008
NM_018941.4(CLN8):c.15C>T (p.Ser5=) rs374597781 0.00008
NM_018941.4(CLN8):c.300G>A (p.Gln100=) rs148988002 0.00008
NM_018941.4(CLN8):c.522C>T (p.Cys174=) rs148417620 0.00008
NM_018941.4(CLN8):c.796G>A (p.Ala266Thr) rs766292710 0.00008
NM_022089.4(ATP13A2):c.1079G>A (p.Gly360Glu) rs566918264 0.00008
NM_022089.4(ATP13A2):c.1629T>A (p.Pro543=) rs369352100 0.00008
NM_022089.4(ATP13A2):c.2236G>A (p.Ala746Thr) rs147277743 0.00008
NM_022089.4(ATP13A2):c.3320C>T (p.Ala1107Val) rs755307953 0.00008
NM_000520.6(HEXA):c.102C>T (p.Asp34=) rs377310315 0.00007
NM_000520.6(HEXA):c.1073C>T (p.Thr358Met) rs552505619 0.00007
NM_000520.6(HEXA):c.1164C>G (p.Ile388Met) rs760153692 0.00007
NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys) rs147502219 0.00007
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg) rs369969903 0.00007
NM_000784.4(CYP27A1):c.593C>T (p.Ser198Leu) rs563736306 0.00007
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=) rs371636461 0.00007
NM_000784.4(CYP27A1):c.878T>C (p.Met293Thr) rs368735609 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_001909.5(CTSD):c.261G>A (p.Thr87=) rs372181453 0.00007
NM_002087.4(GRN):c.1742A>T (p.Asp581Val) rs768223928 0.00007
NM_006493.4(CLN5):c.569A>G (p.Asn190Ser) rs369100769 0.00007
NM_006493.4(CLN5):c.642A>T (p.Val214=) rs751496223 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.197G>A (p.Arg66His) rs367745335 0.00007
NM_022089.4(ATP13A2):c.2326G>C (p.Val776Leu) rs56170027 0.00007
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065 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.3473G>A (p.Arg1158His) rs544885605 0.00007
NM_022089.4(ATP13A2):c.3539G>A (p.Arg1180Lys) rs771312962 0.00007
NM_022089.4(ATP13A2):c.528C>T (p.Ile176=) rs371992028 0.00007
NM_025219.3(DNAJC5):c.565C>T (p.His189Tyr) rs377119075 0.00007
NM_000520.6(HEXA):c.1237C>T (p.Arg413Trp) rs762494949 0.00006
NM_000520.6(HEXA):c.286G>A (p.Val96Ile) rs868358306 0.00006
NM_000520.6(HEXA):c.764C>G (p.Ala255Gly) rs370576428 0.00006
NM_000520.6(HEXA):c.806-7G>A rs770932296 0.00006
NM_000521.4(HEXB):c.1269A>G (p.Val423=) rs746407358 0.00006
NM_000784.4(CYP27A1):c.420C>T (p.His140=) rs139415581 0.00006
NM_000784.4(CYP27A1):c.425T>C (p.Leu142Pro) rs369363177 0.00006
NM_000784.4(CYP27A1):c.515C>T (p.Ala172Val) rs200753815 0.00006
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser) rs145080072 0.00006
NM_000784.4(CYP27A1):c.546T>G (p.Ile182Met) rs149366157 0.00006
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met) rs199691576 0.00006
NM_000784.4(CYP27A1):c.790G>A (p.Val264Met) rs201500822 0.00006
NM_000784.4(CYP27A1):c.83A>C (p.Lys28Thr) rs371449777 0.00006
NM_001042432.2(CLN3):c.1120G>A (p.Val374Ile) rs759049027 0.00006
NM_001042432.2(CLN3):c.1197+13C>T rs370103287 0.00006
NM_001042432.2(CLN3):c.1229C>T (p.Ala410Val) rs369801432 0.00006
NM_001042432.2(CLN3):c.126-8C>T rs770136863 0.00006
NM_001042432.2(CLN3):c.222T>C (p.His74=) rs201225986 0.00006
NM_001042432.2(CLN3):c.223-5A>G rs1210022838 0.00006
NM_001042432.2(CLN3):c.244A>T (p.Ile82Phe) rs370020452 0.00006
NM_001042432.2(CLN3):c.290C>T (p.Thr97Met) rs376421578 0.00006
NM_001042432.2(CLN3):c.677+18G>A rs200503055 0.00006
NM_001909.5(CTSD):c.1084G>A (p.Gly362Arg) rs746733183 0.00006
NM_001909.5(CTSD):c.111G>A (p.Ser37=) rs535140505 0.00006
NM_001909.5(CTSD):c.153C>T (p.Pro51=) rs560041488 0.00006
NM_001909.5(CTSD):c.174G>A (p.Ala58=) rs565191387 0.00006
NM_001909.5(CTSD):c.184G>A (p.Val62Met) rs756892066 0.00006
NM_001909.5(CTSD):c.267C>G (p.Pro89=) rs139154882 0.00006
NM_001909.5(CTSD):c.411G>A (p.Ser137=) rs372999684 0.00006
NM_001909.5(CTSD):c.627C>T (p.Asn209=) rs772453588 0.00006
NM_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.1641C>T (p.Arg547=) rs149658268 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.11C>T (p.Thr4Met) rs1017662486 0.00006
NM_017882.3(CLN6):c.199-5C>T rs371705916 0.00006
NM_017882.3(CLN6):c.213C>T (p.Leu71=) rs146980624 0.00006
NM_017882.3(CLN6):c.271G>A (p.Val91Ile) rs140519790 0.00006
NM_017882.3(CLN6):c.278C>T (p.Thr93Met) rs150001589 0.00006
NM_017882.3(CLN6):c.316C>T (p.Arg106Cys) rs202226970 0.00006
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys) rs747229909 0.00006
NM_017882.3(CLN6):c.597C>G (p.Ala199=) rs368546281 0.00006
NM_017882.3(CLN6):c.637C>T (p.Leu213=) rs750548623 0.00006
NM_017882.3(CLN6):c.728C>T (p.Ala243Val) rs767164948 0.00006
NM_017882.3(CLN6):c.799G>A (p.Ala267Thr) rs374613712 0.00006
NM_018941.4(CLN8):c.287C>T (p.Ala96Val) rs775400768 0.00006
NM_018941.4(CLN8):c.510G>A (p.Thr170=) rs759153401 0.00006
NM_018941.4(CLN8):c.708C>T (p.Val236=) rs200760828 0.00006
NM_022089.4(ATP13A2):c.1064C>T (p.Thr355Met) rs555691965 0.00006
NM_022089.4(ATP13A2):c.1243C>T (p.Arg415Trp) rs768796427 0.00006
NM_022089.4(ATP13A2):c.1895C>T (p.Ser632Leu) rs376070950 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.2252-8A>T rs759020707 0.00006
NM_022089.4(ATP13A2):c.2406C>T (p.Gly802=) rs886045580 0.00006
NM_022089.4(ATP13A2):c.2529+9G>A rs200809857 0.00006
NM_022089.4(ATP13A2):c.2663C>T (p.Ala888Val) rs190323680 0.00006
NM_022089.4(ATP13A2):c.2994C>T (p.Ser998=) rs369590596 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.699G>T (p.Val233=) rs374074690 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_022089.4(ATP13A2):c.823C>T (p.Leu275=) rs767056514 0.00006
NM_025219.3(DNAJC5):c.243G>A (p.Ser81=) rs532410241 0.00006
NM_025219.3(DNAJC5):c.419C>T (p.Ala140Val) rs144915847 0.00006
NM_025219.3(DNAJC5):c.524C>T (p.Pro175Leu) rs761982169 0.00006
NM_025219.3(DNAJC5):c.528A>G (p.Ala176=) rs773154613 0.00006
NM_000520.6(HEXA):c.1146+9G>C rs371023342 0.00005
NM_000520.6(HEXA):c.1421+4A>G rs953579005 0.00005
NM_000520.6(HEXA):c.460-1G>T rs764343937 0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_000520.6(HEXA):c.53G>A (p.Gly18Glu) rs371133961 0.00005
NM_000520.6(HEXA):c.888T>C (p.Asn296=) rs752260651 0.00005
NM_000521.4(HEXB):c.1035A>C (p.Pro345=) rs202227927 0.00005
NM_000521.4(HEXB):c.1251G>A (p.Pro417=) rs144264311 0.00005
NM_000521.4(HEXB):c.1572C>T (p.Asp524=) rs770560389 0.00005
NM_000784.4(CYP27A1):c.1152G>A (p.Pro384=) rs373428306 0.00005
NM_000784.4(CYP27A1):c.1185-3C>A rs373628198 0.00005
NM_000784.4(CYP27A1):c.151C>T (p.Arg51Trp) rs570721628 0.00005
NM_000784.4(CYP27A1):c.1595G>A (p.Ter532=) rs150091721 0.00005
NM_000784.4(CYP27A1):c.283A>G (p.Met95Val) rs372772968 0.00005
NM_000784.4(CYP27A1):c.447-11C>T rs746577389 0.00005
NM_000784.4(CYP27A1):c.472C>T (p.Arg158Cys) rs774541162 0.00005
NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp) rs61733615 0.00005
NM_000784.4(CYP27A1):c.547G>A (p.Asp183Asn) rs751280804 0.00005
NM_000784.4(CYP27A1):c.61T>C (p.Cys21Arg) rs751804153 0.00005
NM_000784.4(CYP27A1):c.711C>T (p.Thr237=) rs375163463 0.00005
NM_000784.4(CYP27A1):c.93C>T (p.Ile31=) rs780332239 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.519T>C (p.Thr173=) rs983162408 0.00005
NM_001042432.2(CLN3):c.615C>T (p.Ala205=) rs145631076 0.00005
NM_001042432.2(CLN3):c.626C>T (p.Pro209Leu) rs139417824 0.00005
NM_001042432.2(CLN3):c.84G>A (p.Leu28=) rs1004740919 0.00005
NM_001042432.2(CLN3):c.975G>A (p.Leu325=) rs150174473 0.00005
NM_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.216G>A (p.Lys72=) rs764982673 0.00005
NM_001909.5(CTSD):c.37C>T (p.Leu13=) rs763474887 0.00005
NM_001909.5(CTSD):c.410C>T (p.Ser137Leu) rs777645484 0.00005
NM_001909.5(CTSD):c.505C>G (p.Leu169Val) rs768487717 0.00005
NM_001909.5(CTSD):c.534C>G (p.Val178=) rs758852382 0.00005
NM_001909.5(CTSD):c.606C>G (p.Ala202=) rs775478289 0.00005
NM_002087.4(GRN):c.102C>T (p.Pro34=) rs63751074 0.00005
NM_002087.4(GRN):c.128G>A (p.Arg43His) rs766068311 0.00005
NM_002087.4(GRN):c.1540G>A (p.Val514Met) rs142926942 0.00005
NM_002087.4(GRN):c.501C>T (p.His167=) rs372194047 0.00005
NM_002087.4(GRN):c.555C>T (p.His185=) rs146250263 0.00005
NM_002087.4(GRN):c.634C>T (p.Arg212Trp) rs139375860 0.00005
NM_002087.4(GRN):c.803C>T (p.Thr268Met) rs202006119 0.00005
NM_002087.4(GRN):c.933+15C>T rs1306228988 0.00005
NM_003793.4(CTSF):c.1237C>T (p.Arg413Cys) rs779164010 0.00005
NM_003793.4(CTSF):c.351C>T (p.His117=) rs112809338 0.00005
NM_006493.4(CLN5):c.-21G>A rs529998879 0.00005
NM_006493.4(CLN5):c.173+12G>T rs781182241 0.00005
NM_006493.4(CLN5):c.687C>T (p.Tyr229=) rs778480440 0.00005
NM_017882.3(CLN6):c.15G>A (p.Arg5=) rs1008565735 0.00005
NM_017882.3(CLN6):c.204A>G (p.Val68=) rs774960579 0.00005
NM_017882.3(CLN6):c.279G>A (p.Thr93=) rs746613593 0.00005
NM_017882.3(CLN6):c.678C>T (p.Thr226=) rs374744816 0.00005
NM_017882.3(CLN6):c.72C>T (p.Phe24=) rs767394326 0.00005
NM_017882.3(CLN6):c.749G>A (p.Arg250His) rs554594996 0.00005
NM_017882.3(CLN6):c.832G>A (p.Ala278Thr) rs143728911 0.00005
NM_018941.4(CLN8):c.246G>A (p.Leu82=) rs144015378 0.00005
NM_018941.4(CLN8):c.666G>A (p.Leu222=) rs532934034 0.00005
NM_022089.4(ATP13A2):c.106-4G>A rs372541124 0.00005
NM_022089.4(ATP13A2):c.1202G>A (p.Cys401Tyr) rs377186549 0.00005
NM_022089.4(ATP13A2):c.157G>A (p.Val53Met) rs142699829 0.00005
NM_022089.4(ATP13A2):c.2260C>G (p.Leu754Val) rs139909551 0.00005
NM_022089.4(ATP13A2):c.3084-16A>T rs56299881 0.00005
NM_022089.4(ATP13A2):c.3378C>T (p.Leu1126=) rs773914880 0.00005
NM_022089.4(ATP13A2):c.601C>T (p.Arg201Cys) rs760715676 0.00005
NM_022089.4(ATP13A2):c.658G>A (p.Val220Met) rs367693423 0.00005
NM_022089.4(ATP13A2):c.822G>A (p.Ser274=) rs138649639 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.231C>T (p.Asp77=) rs766072943 0.00005
NM_025219.3(DNAJC5):c.486C>T (p.Asp162=) rs145468246 0.00005
NM_025219.3(DNAJC5):c.513C>T (p.Ile171=) rs745794091 0.00005
NM_025219.3(DNAJC5):c.52C>G (p.His18Asp) rs780154907 0.00005
NM_000520.6(HEXA):c.1084A>G (p.Ile362Val) rs771447407 0.00004
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser) rs575121167 0.00004
NM_000520.6(HEXA):c.1421+17G>A rs752975043 0.00004
NM_000520.6(HEXA):c.1496G>A (p.Arg499His) rs121907956 0.00004
NM_000520.6(HEXA):c.253+20C>T rs772715699 0.00004
NM_000520.6(HEXA):c.347-15T>A rs750626935 0.00004
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter) rs121907962 0.00004
NM_000520.6(HEXA):c.706G>A (p.Ala236Thr) rs757119445 0.00004
NM_000520.6(HEXA):c.981C>T (p.Thr327=) rs1271376611 0.00004
NM_000520.6(HEXA):c.986+3A>G rs200926928 0.00004
NM_000521.4(HEXB):c.1082+5G>A rs5030731 0.00004
NM_000521.4(HEXB):c.1243-6T>C rs759404927 0.00004
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser) rs121907982 0.00004
NM_000521.4(HEXB):c.1374A>G (p.Gln458=) rs200714672 0.00004
NM_000521.4(HEXB):c.1508+7G>A rs1016425766 0.00004
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser) rs121907985 0.00004
NM_000521.4(HEXB):c.251A>G (p.Asn84Ser) rs200209801 0.00004
NM_000521.4(HEXB):c.672T>C (p.Asp224=) rs761223179 0.00004
NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser) rs778458082 0.00004
NM_000784.4(CYP27A1):c.1185-15T>C rs117727806 0.00004
NM_000784.4(CYP27A1):c.1477-10T>C rs372756101 0.00004
NM_000784.4(CYP27A1):c.1509G>A (p.Pro503=) rs577558935 0.00004
NM_000784.4(CYP27A1):c.1569C>T (p.Gly523=) rs748616891 0.00004
NM_000784.4(CYP27A1):c.1582C>T (p.Gln528Ter) rs376609492 0.00004
NM_000784.4(CYP27A1):c.159G>A (p.Arg53=) rs750652986 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_000784.4(CYP27A1):c.501G>A (p.Lys167=) rs921885901 0.00004
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr) rs556745324 0.00004
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter) rs188850202 0.00004
NM_000784.4(CYP27A1):c.608C>T (p.Ser203Leu) rs186812403 0.00004
NM_000784.4(CYP27A1):c.613A>G (p.Met205Val) rs147321244 0.00004
NM_000784.4(CYP27A1):c.845-1G>A rs397515353 0.00004
NM_001042432.2(CLN3):c.1002C>T (p.Arg334=) rs140828382 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.1095C>T (p.Phe365=) rs757106140 0.00004
NM_001042432.2(CLN3):c.1119C>T (p.Leu373=) rs376478363 0.00004
NM_001042432.2(CLN3):c.1168G>A (p.Val390Met) rs777383109 0.00004
NM_001042432.2(CLN3):c.125+3G>A rs775577824 0.00004
NM_001042432.2(CLN3):c.239C>T (p.Thr80Met) rs775999656 0.00004
NM_001042432.2(CLN3):c.264A>C (p.Ser88=) rs751321507 0.00004
NM_001042432.2(CLN3):c.295-17C>T rs375311626 0.00004
NM_001042432.2(CLN3):c.304C>T (p.Leu102=) rs1167562278 0.00004
NM_001042432.2(CLN3):c.460+3G>A rs779238243 0.00004
NM_001042432.2(CLN3):c.516C>T (p.Leu172=) rs148846795 0.00004
NM_001042432.2(CLN3):c.568G>A (p.Gly190Arg) rs1311480802 0.00004
NM_001042432.2(CLN3):c.988G>A (p.Val330Ile) rs386833744 0.00004
NM_001909.5(CTSD):c.1062C>T (p.Tyr354=) rs764106396 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.393C>T (p.Tyr131=) rs776128996 0.00004
NM_001909.5(CTSD):c.447G>A (p.Gly149=) rs752032660 0.00004
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu) rs587779409 0.00004
NM_001909.5(CTSD):c.510C>T (p.Gly170=) rs749196696 0.00004
NM_001909.5(CTSD):c.693C>T (p.Phe231=) rs534216994 0.00004
NM_001909.5(CTSD):c.697C>T (p.Leu233=) rs142330967 0.00004
NM_001909.5(CTSD):c.704+6C>T rs370847523 0.00004
NM_001909.5(CTSD):c.828-4G>A rs371034011 0.00004
NM_001909.5(CTSD):c.927C>T (p.Arg309=) rs1174115566 0.00004
NM_001909.5(CTSD):c.972+7G>A rs371747998 0.00004
NM_001909.5(CTSD):c.972+9C>T rs746243061 0.00004
NM_002087.4(GRN):c.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.1695C>T (p.Cys565=) rs63751248 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.402G>A (p.Pro134=) rs201932427 0.00004
NM_002087.4(GRN):c.552C>T (p.Thr184=) rs141697391 0.00004
NM_002087.4(GRN):c.690C>T (p.Gly230=) rs956842924 0.00004
NM_002087.4(GRN):c.698C>A (p.Pro233Gln) rs63750455 0.00004
NM_002087.4(GRN):c.709-12G>C rs771557106 0.00004
NM_003793.4(CTSF):c.1026C>T (p.Tyr342=) rs762134997 0.00004
NM_006493.4(CLN5):c.1A>T (p.Met1Leu) rs371624826 0.00004
NM_006493.4(CLN5):c.27G>A (p.Gln9=) rs373102871 0.00004
NM_006493.4(CLN5):c.486C>T (p.Gly162=) rs769007858 0.00004
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) rs386833980 0.00004
NM_006493.4(CLN5):c.838G>T (p.Gly280Ter) rs768449493 0.00004
NM_017882.3(CLN6):c.103G>A (p.Asp35Asn) rs533231370 0.00004
NM_017882.3(CLN6):c.259A>G (p.Met87Val) rs532180601 0.00004
NM_017882.3(CLN6):c.328C>T (p.Arg110Cys) rs143928329 0.00004
NM_017882.3(CLN6):c.487-13G>A rs747926816 0.00004
NM_017882.3(CLN6):c.487-20C>T rs772189210 0.00004
NM_017882.3(CLN6):c.564C>A (p.Ile188=) rs371326037 0.00004
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu) rs587780316 0.00004
NM_017882.3(CLN6):c.754C>T (p.Arg252Cys) rs145746878 0.00004
NM_017882.3(CLN6):c.755G>A (p.Arg252His) rs374681194 0.00004
NM_018941.4(CLN8):c.108G>C (p.Leu36Phe) rs746677418 0.00004
NM_018941.4(CLN8):c.279C>T (p.Ala93=) rs372313992 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.499G>T (p.Glu167Ter) rs144495588 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.1182G>T (p.Val394=) rs372159448 0.00004
NM_022089.4(ATP13A2):c.144C>T (p.Ile48=) rs375615601 0.00004
NM_022089.4(ATP13A2):c.153C>T (p.His51=) rs759666274 0.00004
NM_022089.4(ATP13A2):c.1542+3G>A rs747456787 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.2745C>T (p.Cys915=) rs372361807 0.00004
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met) rs768674400 0.00004
NM_022089.4(ATP13A2):c.2763-17C>T rs367638044 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.3205G>A (p.Ala1069Thr) rs774238872 0.00004
NM_022089.4(ATP13A2):c.3215G>A (p.Arg1072His) rs371220869 0.00004
NM_022089.4(ATP13A2):c.3235+16C>T rs373315947 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.407C>T (p.Ala136Val) rs562519835 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_022089.4(ATP13A2):c.993C>T (p.Ala331=) rs568367953 0.00004
NM_025219.3(DNAJC5):c.108-3C>T rs541118679 0.00004
NM_025219.3(DNAJC5):c.420G>T (p.Ala140=) rs568985915 0.00004
NM_000520.6(HEXA):c.1073+18G>A rs756371964 0.00003
NM_000520.6(HEXA):c.1073+4A>G rs780502991 0.00003
NM_000520.6(HEXA):c.1074-20G>T rs776333373 0.00003
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys) rs121907958 0.00003
NM_000520.6(HEXA):c.1266G>T (p.Leu422=) rs373023700 0.00003
NM_000520.6(HEXA):c.1421+12C>T rs200757264 0.00003
NM_000520.6(HEXA):c.1422-10T>C rs747528877 0.00003
NM_000520.6(HEXA):c.640G>A (p.Glu214Lys) rs1227959449 0.00003
NM_000520.6(HEXA):c.840G>A (p.Gly280=) rs778823870 0.00003
NM_000521.4(HEXB):c.1281C>T (p.Ser427=) rs140443258 0.00003
NM_000521.4(HEXB):c.1419T>C (p.Gly473=) rs150778823 0.00003
NM_000521.4(HEXB):c.1478T>G (p.Val493Gly) rs794727049 0.00003
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042 0.00003
NM_000521.4(HEXB):c.633A>G (p.Arg211=) rs750864626 0.00003
NM_000521.4(HEXB):c.657T>C (p.Ile219=) rs141175812 0.00003
NM_000784.4(CYP27A1):c.1055C>T (p.Ser352Leu) rs780927834 0.00003
NM_000784.4(CYP27A1):c.1113C>T (p.Ala371=) rs746269951 0.00003
NM_000784.4(CYP27A1):c.1263+1G>A rs397515355 0.00003
NM_000784.4(CYP27A1):c.1286A>G (p.Tyr429Cys) rs774127681 0.00003
NM_000784.4(CYP27A1):c.1348C>T (p.Leu450=) rs1039198612 0.00003
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) rs121908097 0.00003
NM_000784.4(CYP27A1):c.1556A>G (p.Asn519Ser) rs371510438 0.00003
NM_000784.4(CYP27A1):c.20C>T (p.Ala7Val) rs1364383591 0.00003
NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met) rs370498798 0.00003
NM_000784.4(CYP27A1):c.373C>G (p.Pro125Ala) rs1046723537 0.00003
NM_000784.4(CYP27A1):c.376G>C (p.Val126Leu) rs773892447 0.00003
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln) rs376230356 0.00003
NM_000784.4(CYP27A1):c.447-10G>A rs756808196 0.00003
NM_000784.4(CYP27A1):c.473G>A (p.Arg158His) rs761927223 0.00003
NM_000784.4(CYP27A1):c.594G>A (p.Ser198=) rs1487944910 0.00003
NM_000784.4(CYP27A1):c.624C>T (p.Leu208=) rs200060245 0.00003
NM_000784.4(CYP27A1):c.647-4T>C rs1943729690 0.00003
NM_000784.4(CYP27A1):c.674G>A (p.Arg225His) rs753275244 0.00003
NM_000784.4(CYP27A1):c.808C>G (p.Arg270Gly) rs72551318 0.00003
NM_000784.4(CYP27A1):c.809G>A (p.Arg270Gln) rs556715266 0.00003
NM_000784.4(CYP27A1):c.844+20G>A rs200698553 0.00003
NM_000784.4(CYP27A1):c.870C>T (p.Leu290=) rs202136743 0.00003
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys) rs190012697 0.00003
NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter) rs575064188 0.00003
NM_000784.4(CYP27A1):c.967C>T (p.Arg323Trp) rs371603253 0.00003
NM_000784.4(CYP27A1):c.972G>A (p.Glu324=) rs1341913523 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.1116C>T (p.Tyr372=) rs142456044 0.00003
NM_001042432.2(CLN3):c.1167C>T (p.Tyr389=) rs371025471 0.00003
NM_001042432.2(CLN3):c.1198-5C>T rs764999720 0.00003
NM_001042432.2(CLN3):c.1203T>A (p.Ser401Arg) rs764585366 0.00003
NM_001042432.2(CLN3):c.1240A>G (p.Ile414Val) rs146124686 0.00003
NM_001042432.2(CLN3):c.1262C>T (p.Ser421Phe) rs778225078 0.00003
NM_001042432.2(CLN3):c.1269G>A (p.Ser423=) rs200719311 0.00003
NM_001042432.2(CLN3):c.180C>T (p.His60=) rs150120797 0.00003
NM_001042432.2(CLN3):c.206C>T (p.Ser69Leu) rs769840061 0.00003
NM_001042432.2(CLN3):c.319C>T (p.Pro107Ser) rs149095062 0.00003
NM_001042432.2(CLN3):c.46+13G>A rs532377265 0.00003
NM_001042432.2(CLN3):c.461-3C>A rs181995380 0.00003
NM_001042432.2(CLN3):c.47-3C>T rs377583228 0.00003
NM_001042432.2(CLN3):c.644C>A (p.Ser215Tyr) rs1328657534 0.00003
NM_001042432.2(CLN3):c.677+17C>T rs758724606 0.00003
NM_001042432.2(CLN3):c.69C>T (p.Pro23=) rs754235288 0.00003
NM_001042432.2(CLN3):c.837+8T>A rs1364896586 0.00003
NM_001042432.2(CLN3):c.859C>T (p.Pro287Ser) rs796052341 0.00003
NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286 0.00003
NM_001909.5(CTSD):c.288C>T (p.Phe96=) rs778220078 0.00003
NM_001909.5(CTSD):c.432G>A (p.Ser144=) rs587780916 0.00003
NM_001909.5(CTSD):c.472-11C>G rs753302848 0.00003
NM_001909.5(CTSD):c.511G>A (p.Gly171Ser) rs775460488 0.00003
NM_001909.5(CTSD):c.69-17C>A rs371858126 0.00003
NM_001909.5(CTSD):c.704+18C>T rs371260793 0.00003
NM_001909.5(CTSD):c.74C>T (p.Pro25Leu) rs145852974 0.00003
NM_001909.5(CTSD):c.771T>C (p.Gly257=) rs376607594 0.00003
NM_001909.5(CTSD):c.817C>T (p.His273Tyr) rs145905196 0.00003
NM_001909.5(CTSD):c.828-5C>T rs762444592 0.00003
NM_001909.5(CTSD):c.882G>A (p.Val294=) rs778999077 0.00003
NM_001909.5(CTSD):c.945C>T (p.Ile315=) rs752172496 0.00003
NM_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.1485C>T (p.Cys495=) rs63750576 0.00003
NM_002087.4(GRN):c.302G>A (p.Arg101Gln) rs201686997 0.00003
NM_002087.4(GRN):c.57G>T (p.Arg19=) rs1426790644 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_002087.4(GRN):c.933+11G>A rs373518235 0.00003
NM_003793.4(CTSF):c.1218C>T (p.Ala406=) rs758499333 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_006493.2(CLN5):c.116C>G (p.Ser39Trp) rs61504484 0.00003
NM_006493.2(CLN5):c.22G>C (p.Gly8Arg) rs762873839 0.00003
NM_006493.2(CLN5):c.54A>G (p.Gln18=) rs767480061 0.00003
NM_006493.4(CLN5):c.-103G>T rs777933047 0.00003
NM_006493.4(CLN5):c.-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.136G>T (p.Gly46Cys) rs775102823 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.522dup (p.Trp175fs) rs386833979 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_006493.4(CLN5):c.960G>C (p.Gln320His) rs1455002686 0.00003
NM_017882.3(CLN6):c.120G>A (p.Thr40=) rs1034192926 0.00003
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp) rs886285802 0.00003
NM_017882.3(CLN6):c.157C>T (p.Leu53=) rs1172062931 0.00003
NM_017882.3(CLN6):c.329G>A (p.Arg110His) rs140179213 0.00003
NM_017882.3(CLN6):c.338C>T (p.Thr113Met) rs758830997 0.00003
NM_017882.3(CLN6):c.36G>A (p.Ala12=) rs1048000119 0.00003
NM_017882.3(CLN6):c.446G>A (p.Arg149His) rs154774638 0.00003
NM_017882.3(CLN6):c.534C>T (p.His178=) rs763901402 0.00003
NM_017882.3(CLN6):c.583G>A (p.Gly195Ser) rs747575187 0.00003
NM_017882.3(CLN6):c.634C>T (p.Leu212Phe) rs751562146 0.00003
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295 0.00003
NM_017882.3(CLN6):c.821C>T (p.Ala274Val) rs202012876 0.00003
NM_017882.3(CLN6):c.831C>T (p.Val277=) rs753344266 0.00003
NM_017882.3(CLN6):c.870C>T (p.Tyr290=) rs774291260 0.00003
NM_017882.3(CLN6):c.872C>T (p.Pro291Leu) rs373652272 0.00003
NM_017882.3(CLN6):c.924C>T (p.Ser308=) rs774237925 0.00003
NM_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.266C>G (p.Pro89Arg) rs919541697 0.00003
NM_018941.4(CLN8):c.270G>A (p.Val90=) rs561448346 0.00003
NM_018941.4(CLN8):c.288G>A (p.Ala96=) rs533351136 0.00003
NM_018941.4(CLN8):c.470A>G (p.His157Arg) rs149308952 0.00003
NM_018941.4(CLN8):c.503T>C (p.Met168Thr) rs374031055 0.00003
NM_018941.4(CLN8):c.543+17G>T rs370471193 0.00003
NM_018941.4(CLN8):c.582G>A (p.Gln194=) rs139824802 0.00003
NM_018941.4(CLN8):c.585G>C (p.Trp195Cys) rs778435359 0.00003
NM_018941.4(CLN8):c.66G>C (p.Gly22=) rs763583156 0.00003
NM_018941.4(CLN8):c.697C>G (p.Leu233Val) rs1380901432 0.00003
NM_018941.4(CLN8):c.726G>A (p.Thr242=) rs200529220 0.00003
NM_018941.4(CLN8):c.94T>C (p.Phe32Leu) rs758068226 0.00003
NM_022089.4(ATP13A2):c.1103C>T (p.Thr368Ile) rs1033088325 0.00003
NM_022089.4(ATP13A2):c.1104A>G (p.Thr368=) rs762728165 0.00003
NM_022089.4(ATP13A2):c.1398C>T (p.Thr466=) rs768482207 0.00003
NM_022089.4(ATP13A2):c.1545G>A (p.Thr515=) rs373005131 0.00003
NM_022089.4(ATP13A2):c.1634G>A (p.Arg545His) rs200337290 0.00003
NM_022089.4(ATP13A2):c.1688G>A (p.Arg563Gln) rs541385523 0.00003
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter) rs773246271 0.00003
NM_022089.4(ATP13A2):c.2190G>T (p.Pro730=) rs148275181 0.00003
NM_022089.4(ATP13A2):c.2439C>T (p.Thr813=) rs368244226 0.00003
NM_022089.4(ATP13A2):c.2478C>T (p.Ser826=) rs147611385 0.00003
NM_022089.4(ATP13A2):c.2529+8C>T rs771708290 0.00003
NM_022089.4(ATP13A2):c.265G>A (p.Val89Ile) rs534590083 0.00003
NM_022089.4(ATP13A2):c.2681C>T (p.Ser894Leu) rs376348581 0.00003
NM_022089.4(ATP13A2):c.2796C>T (p.Ser932=) rs755542233 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.3360G>C (p.Leu1120=) rs1170773460 0.00003
NM_022089.4(ATP13A2):c.3384C>T (p.Phe1128=) rs373514205 0.00003
NM_022089.4(ATP13A2):c.3501C>T (p.Ala1167=) rs781135190 0.00003
NM_022089.4(ATP13A2):c.42C>T (p.Thr14=) rs371850140 0.00003
NM_022089.4(ATP13A2):c.431A>T (p.Asp144Val) rs145031260 0.00003
NM_022089.4(ATP13A2):c.558-20C>T rs749500132 0.00003
NM_022089.4(ATP13A2):c.574C>T (p.Arg192Cys) rs372857244 0.00003
NM_025219.3(DNAJC5):c.189G>A (p.Ala63=) rs746052000 0.00003
NM_025219.3(DNAJC5):c.204G>A (p.Thr68=) rs1002205118 0.00003
NM_025219.3(DNAJC5):c.255C>T (p.Tyr85=) rs749077830 0.00003
NM_025219.3(DNAJC5):c.322-5C>A rs373568941 0.00003
NM_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_000520.6(HEXA):c.1014T>C (p.Phe338=) rs149121118 0.00002
NM_000520.6(HEXA):c.120C>T (p.Tyr40=) rs762382202 0.00002
NM_000520.6(HEXA):c.1230C>T (p.Ala410=) rs751185874 0.00002
NM_000520.6(HEXA):c.1256C>G (p.Pro419Arg) rs772431056 0.00002
NM_000520.6(HEXA):c.1302C>G (p.Phe434Leu) rs202173526 0.00002
NM_000520.6(HEXA):c.1421+1G>C rs147324677 0.00002
NM_000520.6(HEXA):c.1421G>T (p.Trp474Leu) rs762374961 0.00002
NM_000520.6(HEXA):c.1511G>A (p.Arg504His) rs121907955 0.00002
NM_000520.6(HEXA):c.1557A>G (p.Val519=) rs1327031567 0.00002
NM_000520.6(HEXA):c.1572G>A (p.Gln524=) rs1389009140 0.00002
NM_000520.6(HEXA):c.259C>T (p.Arg87Trp) rs573269641 0.00002
NM_000520.6(HEXA):c.297A>C (p.Val99=) rs766640260 0.00002
NM_000520.6(HEXA):c.347-12C>T rs761854464 0.00002
NM_000520.6(HEXA):c.459+18A>G rs751790486 0.00002
NM_000520.6(HEXA):c.497G>A (p.Arg166His) rs398123442 0.00002
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) rs121907953 0.00002
NM_000520.6(HEXA):c.571-1G>T rs185429231 0.00002
NM_000520.6(HEXA):c.616G>A (p.Val206Ile) rs543071358 0.00002
NM_000520.6(HEXA):c.64G>A (p.Ala22Thr) rs756218457 0.00002
NM_000520.6(HEXA):c.805+7A>G rs758135123 0.00002
NM_000520.6(HEXA):c.906C>T (p.Ser302=) rs765612435 0.00002
NM_000521.4(HEXB):c.1040A>T (p.Gln347Leu) rs754108567 0.00002
NM_000521.4(HEXB):c.1083-14A>C rs776536464 0.00002
NM_000521.4(HEXB):c.1418-5T>C rs773772578 0.00002
NM_000521.4(HEXB):c.1513C>T (p.Arg505Trp) rs751592419 0.00002
NM_000521.4(HEXB):c.1614-16_1615dup rs1554037309 0.00002
NM_000521.4(HEXB):c.1645G>A (p.Gly549Arg) rs398123448 0.00002
NM_000521.4(HEXB):c.174C>T (p.Pro58=) rs769964813 0.00002
NM_000521.4(HEXB):c.311A>G (p.Tyr104Cys) rs762209256 0.00002
NM_000521.4(HEXB):c.354C>T (p.Phe118=) rs755175110 0.00002
NM_000521.4(HEXB):c.410G>A (p.Cys137Tyr) rs779453450 0.00002
NM_000521.4(HEXB):c.851G>A (p.Arg284Gln) rs1352786910 0.00002
NM_000784.4(CYP27A1):c.1029G>A (p.Thr343=) rs771343931 0.00002
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter) rs533885672 0.00002
NM_000784.4(CYP27A1):c.1083G>T (p.Leu361Phe) rs1215745374 0.00002
NM_000784.4(CYP27A1):c.1089G>A (p.Glu363=) rs963559886 0.00002
NM_000784.4(CYP27A1):c.1148T>A (p.Met383Lys) rs539356203 0.00002
NM_000784.4(CYP27A1):c.1298G>A (p.Arg433Gln) rs201107032 0.00002
NM_000784.4(CYP27A1):c.1373C>T (p.Pro458Leu) rs781360671 0.00002
NM_000784.4(CYP27A1):c.1470C>T (p.Leu490=) rs1229201370 0.00002
NM_000784.4(CYP27A1):c.1494G>C (p.Lys498Asn) rs377290147 0.00002
NM_000784.4(CYP27A1):c.315C>T (p.His105=) rs753981913 0.00002
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=) rs192344487 0.00002
NM_000784.4(CYP27A1):c.368A>C (p.Lys123Thr) rs778424069 0.00002
NM_000784.4(CYP27A1):c.36G>T (p.Ala12=) rs764764261 0.00002
NM_000784.4(CYP27A1):c.384C>T (p.Asn128=) rs765555645 0.00002
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=) rs776260288 0.00002
NM_000784.4(CYP27A1):c.518T>C (p.Leu173Pro) rs1378044084 0.00002
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=) rs200506778 0.00002
NM_000784.4(CYP27A1):c.563G>A (p.Arg188Gln) rs754310499 0.00002
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=) rs751692931 0.00002
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=) rs764766872 0.00002
NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter) rs72551319 0.00002
NM_000784.4(CYP27A1):c.919G>T (p.Val307Leu) rs779794737 0.00002
NM_001042432.2(CLN3):c.1001G>A (p.Arg334His) rs386833695 0.00002
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter) rs386833697 0.00002
NM_001042432.2(CLN3):c.1135C>T (p.Leu379=) rs890026046 0.00002
NM_001042432.2(CLN3):c.1186A>G (p.Ile396Val) rs781253826 0.00002
NM_001042432.2(CLN3):c.1305C>G (p.Cys435Trp) rs1216521924 0.00002
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr) rs765893479 0.00002
NM_001042432.2(CLN3):c.197A>G (p.Lys66Arg) rs769447444 0.00002
NM_001042432.2(CLN3):c.240G>A (p.Thr80=) rs373911322 0.00002
NM_001042432.2(CLN3):c.243G>A (p.Pro81=) rs779165392 0.00002
NM_001042432.2(CLN3):c.321C>T (p.Pro107=) rs1223699867 0.00002
NM_001042432.2(CLN3):c.339G>A (p.Leu113=) rs200356262 0.00002
NM_001042432.2(CLN3):c.380G>A (p.Arg127Gln) rs780776829 0.00002
NM_001042432.2(CLN3):c.420C>G (p.Val140=) rs544119921 0.00002
NM_001042432.2(CLN3):c.447G>T (p.Gly149=) rs779918787 0.00002
NM_001042432.2(CLN3):c.46+18C>T rs2046318191 0.00002
NM_001042432.2(CLN3):c.460+7G>C rs369389378 0.00002
NM_001042432.2(CLN3):c.461-10C>T rs768274237 0.00002
NM_001042432.2(CLN3):c.47-13C>T rs370561457 0.00002
NM_001042432.2(CLN3):c.47-9C>T rs148898302 0.00002
NM_001042432.2(CLN3):c.591G>A (p.Leu197=) rs764082661 0.00002
NM_001042432.2(CLN3):c.641T>C (p.Leu214Pro) rs749609898 0.00002
NM_001042432.2(CLN3):c.693C>T (p.Leu231=) rs376590377 0.00002
NM_001042432.2(CLN3):c.741C>T (p.Ser247=) rs148782327 0.00002
NM_001042432.2(CLN3):c.748C>T (p.Arg250Trp) rs764881080 0.00002
NM_001042432.2(CLN3):c.749G>A (p.Arg250Gln) rs374217931 0.00002
NM_001042432.2(CLN3):c.814C>T (p.Arg272Trp) rs113041302 0.00002
NM_001042432.2(CLN3):c.815G>A (p.Arg272Gln) rs145270402 0.00002
NM_001042432.2(CLN3):c.946G>A (p.Ala316Thr) rs780974004 0.00002
NM_001909.5(CTSD):c.1076C>T (p.Ser359Leu) rs545364302 0.00002
NM_001909.5(CTSD):c.1101G>A (p.Leu367=) rs777289049 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.270G>A (p.Gln90=) rs587780915 0.00002
NM_001909.5(CTSD):c.352+8A>T rs944771031 0.00002
NM_001909.5(CTSD):c.352+9C>T rs764034136 0.00002
NM_001909.5(CTSD):c.444C>T (p.Ser148=) rs767817481 0.00002
NM_001909.5(CTSD):c.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_001909.5(CTSD):c.69-12C>T rs764025297 0.00002
NM_001909.5(CTSD):c.69-16G>A rs377703110 0.00002
NM_001909.5(CTSD):c.6G>A (p.Gln2=) rs1328097097 0.00002
NM_001909.5(CTSD):c.717G>A (p.Ala239=) rs368699900 0.00002
NM_002087.4(GRN):c.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.327G>A (p.Gly109=) rs753361816 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.630C>T (p.Asp210=) rs768056183 0.00002
NM_002087.4(GRN):c.723C>T (p.Ser241=) rs200408271 0.00002
NM_002087.4(GRN):c.836-3C>T rs771907059 0.00002
NM_002087.4(GRN):c.969C>T (p.Pro323=) rs749575144 0.00002
NM_002087.4(GRN):c.989C>T (p.Thr330Met) rs376059429 0.00002
NM_003793.4(CTSF):c.1230+14C>T rs759960583 0.00002
NM_006493.2(CLN5):c.117G>C (p.Ser39=) rs779934262 0.00002
NM_006493.2(CLN5):c.1A>C (p.Met1Leu) rs1268502139 0.00002
NM_006493.2(CLN5):c.57C>A (p.Gly19=) rs1057522685 0.00002
NM_006493.4(CLN5):c.-84C>A rs558597827 0.00002
NM_006493.4(CLN5):c.1038C>T (p.Ile346=) rs571023549 0.00002
NM_006493.4(CLN5):c.1047T>A (p.Pro349=) rs775266818 0.00002
NM_006493.4(CLN5):c.105C>T (p.Leu35=) rs755024034 0.00002
NM_006493.4(CLN5):c.106G>C (p.Ala36Pro) rs778982551 0.00002
NM_006493.4(CLN5):c.173+16C>A rs780975343 0.00002
NM_006493.4(CLN5):c.176G>A (p.Arg59His) rs753197537 0.00002
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter) rs386833971 0.00002
NM_006493.4(CLN5):c.333A>T (p.Gly111=) rs751611392 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.366C>T (p.Phe122=) rs374025536 0.00002
NM_006493.4(CLN5):c.526A>G (p.Lys176Glu) rs142870036 0.00002
NM_006493.4(CLN5):c.57G>T (p.Ala19=) rs2034188115 0.00002
NM_006493.4(CLN5):c.627T>C (p.Tyr209=) rs763980789 0.00002
NM_006493.4(CLN5):c.654A>C (p.Pro218=) rs752406072 0.00002
NM_006493.4(CLN5):c.804T>C (p.Tyr268=) rs575331884 0.00002
NM_006493.4(CLN5):c.80G>A (p.Cys27Tyr) rs796052344 0.00002
NM_006493.4(CLN5):c.831G>T (p.Gly277=) rs749457168 0.00002
NM_006493.4(CLN5):c.892C>T (p.His298Tyr) rs557876713 0.00002
NM_006493.4(CLN5):c.915G>A (p.Leu305=) rs760172666 0.00002
NM_006493.4(CLN5):c.947T>C (p.Ile316Thr) rs182060681 0.00002
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) rs154774640 0.00002
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634 0.00002
NM_017882.3(CLN6):c.343G>A (p.Val115Met) rs762232673 0.00002
NM_017882.3(CLN6):c.423C>T (p.Gly141=) rs1484448524 0.00002
NM_017882.3(CLN6):c.43G>T (p.Gly15Cys) rs1057524348 0.00002
NM_017882.3(CLN6):c.482C>T (p.Thr161Met) rs757734645 0.00002
NM_017882.3(CLN6):c.489C>T (p.Ile163=) rs748682605 0.00002
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821 0.00002
NM_017882.3(CLN6):c.582C>T (p.Ser194=) rs769007090 0.00002
NM_017882.3(CLN6):c.666-3C>T rs761161043 0.00002
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser) rs150363441 0.00002
NM_017882.3(CLN6):c.84-8C>T rs756782429 0.00002
NM_017882.3(CLN6):c.84-9C>T rs778471506 0.00002
NM_017882.3(CLN6):c.894G>A (p.Glu298=) rs780421624 0.00002
NM_017882.3(CLN6):c.912C>T (p.Thr304=) rs201330867 0.00002
NM_017882.3(CLN6):c.929G>A (p.Arg310Gln) rs769900670 0.00002
NM_017882.3(CLN6):c.94G>C (p.Val32Leu) rs369041224 0.00002
NM_017882.3(CLN6):c.99C>T (p.Ser33=) rs752449801 0.00002
NM_018941.4(CLN8):c.111C>T (p.Gly37=) rs753430388 0.00002
NM_018941.4(CLN8):c.147G>A (p.Leu49=) rs555757531 0.00002
NM_018941.4(CLN8):c.161G>A (p.Arg54His) rs372268977 0.00002
NM_018941.4(CLN8):c.208C>T (p.Arg70Cys) rs765097897 0.00002
NM_018941.4(CLN8):c.222T>C (p.Gly74=) rs966203442 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.543+1G>T rs756267448 0.00002
NM_018941.4(CLN8):c.558G>A (p.Glu186=) rs769282149 0.00002
NM_018941.4(CLN8):c.598A>G (p.Met200Val) rs749595247 0.00002
NM_018941.4(CLN8):c.660C>T (p.Asp220=) rs768136048 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_018941.4(CLN8):c.840G>C (p.Leu280=) rs762035651 0.00002
NM_022089.4(ATP13A2):c.1099G>A (p.Glu367Lys) rs770576740 0.00002
NM_022089.4(ATP13A2):c.1189C>T (p.Arg397Cys) rs748309608 0.00002
NM_022089.4(ATP13A2):c.1196-9C>T rs747077419 0.00002
NM_022089.4(ATP13A2):c.1307-14C>T rs370771306 0.00002
NM_022089.4(ATP13A2):c.1321A>T (p.Ile441Phe) rs772446950 0.00002
NM_022089.4(ATP13A2):c.1341C>T (p.Leu447=) rs1032082452 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.1704C>T (p.Pro568=) rs200868484 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.1900C>G (p.Leu634Val) rs543531903 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.244C>T (p.Leu82=) rs761558105 0.00002
NM_022089.4(ATP13A2):c.2634C>T (p.Asp878=) rs556418739 0.00002
NM_022089.4(ATP13A2):c.2723C>T (p.Ser908Leu) rs763069105 0.00002
NM_022089.4(ATP13A2):c.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.3405+10G>A rs375485447 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.585C>T (p.Asp195=) rs765706877 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.777C>T (p.Tyr259=) rs780133367 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_022089.4(ATP13A2):c.975G>A (p.Gly325=) rs915404570 0.00002
NM_025219.3(DNAJC5):c.162G>A (p.Ala54=) rs781164296 0.00002
NM_025219.3(DNAJC5):c.18G>A (p.Gln6=) rs148585496 0.00002
NM_025219.3(DNAJC5):c.229G>A (p.Asp77Asn) rs762638579 0.00002
NM_025219.3(DNAJC5):c.261C>T (p.Ala87=) rs772397861 0.00002
NM_025219.3(DNAJC5):c.366C>T (p.Cys122=) rs895228886 0.00002
NM_025219.3(DNAJC5):c.437C>T (p.Thr146Met) rs779453928 0.00002
NM_025219.3(DNAJC5):c.444C>T (p.Phe148=) rs772254851 0.00002
NM_025219.3(DNAJC5):c.447C>T (p.Tyr149=) rs780478210 0.00002
NM_025219.3(DNAJC5):c.510G>A (p.Pro170=) rs369508682 0.00002
NM_025219.3(DNAJC5):c.525G>A (p.Pro175=) rs373237152 0.00002
NM_025219.3(DNAJC5):c.54C>T (p.His18=) rs770638590 0.00002
NC_000013.11:g.76991969C>A rs1439964955 0.00001
NC_000013.11:g.76992020C>G rs1408667627 0.00001
NC_000013.11:g.76992031C>A rs1168645936 0.00001
NC_000013.11:g.76992044C>T rs958702453 0.00001
NC_000013.11:g.76992047C>T rs751917173 0.00001
NC_000013.11:g.76992077C>A rs1347085017 0.00001
NM_000520.6(HEXA):c.1032C>T (p.Phe344=) rs762704131 0.00001
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser) rs775322979 0.00001
NM_000520.6(HEXA):c.1047G>A (p.Lys349=) rs746518979 0.00001
NM_000520.6(HEXA):c.1073+8A>T rs2088641552 0.00001
NM_000520.6(HEXA):c.1086C>T (p.Ile362=) rs749828204 0.00001
NM_000520.6(HEXA):c.1091C>T (p.Ser364Phe) rs781611898 0.00001
NM_000520.6(HEXA):c.1092T>C (p.Ser364=) rs757519934 0.00001
NM_000520.6(HEXA):c.1103A>G (p.Lys368Arg) rs764291005 0.00001
NM_000520.6(HEXA):c.1116G>A (p.Val372=) rs753609749 0.00001
NM_000520.6(HEXA):c.1146+16G>A rs1297838415 0.00001
NM_000520.6(HEXA):c.1168del (p.Gln390fs) rs772879726 0.00001
NM_000520.6(HEXA):c.1173G>A (p.Val391=) rs575836910 0.00001
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter) rs121907963 0.00001
NM_000520.6(HEXA):c.1254C>T (p.Ala418=) rs1248988558 0.00001
NM_000520.6(HEXA):c.1264C>G (p.Leu422Val) rs774562271 0.00001
NM_000520.6(HEXA):c.1271G>A (p.Arg424His) rs535095877 0.00001
NM_000520.6(HEXA):c.1309G>A (p.Val437Met) rs2088616485 0.00001
NM_000520.6(HEXA):c.1319T>C (p.Leu440Pro) rs752223090 0.00001
NM_000520.6(HEXA):c.132T>G (p.Phe44Leu) rs1304040097 0.00001
NM_000520.6(HEXA):c.134A>C (p.Gln45Pro) rs144089645 0.00001
NM_000520.6(HEXA):c.1359T>C (p.Ile453=) rs113941121 0.00001
NM_000520.6(HEXA):c.1375A>G (p.Met459Val) rs547192168 0.00001
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn) rs750727201 0.00001
NM_000520.6(HEXA):c.139C>T (p.Gln47Ter) rs745996955 0.00001
NM_000520.6(HEXA):c.140A>G (p.Gln47Arg) rs1015834087 0.00001
NM_000520.6(HEXA):c.1421+13G>A rs375201437 0.00001
NM_000520.6(HEXA):c.1422-7C>T rs1204984002 0.00001
NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys) rs121907981 0.00001
NM_000520.6(HEXA):c.1434G>C (p.Gly478=) rs1343812879 0.00001
NM_000520.6(HEXA):c.1438G>A (p.Val480Ile) rs370638338 0.00001
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) rs121907952 0.00001
NM_000520.6(HEXA):c.1476C>G (p.Asp492Glu) rs1185080097 0.00001
NM_000520.6(HEXA):c.1477C>T (p.Leu493=) rs774313739 0.00001
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966 0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071 0.00001
NM_000520.6(HEXA):c.1526+12G>A rs370449921 0.00001
NM_000520.6(HEXA):c.1527-10C>G rs775281927 0.00001
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter) rs786204585 0.00001
NM_000520.6(HEXA):c.1529G>A (p.Arg510Gln) rs745432499 0.00001
NM_000520.6(HEXA):c.1545A>G (p.Gln515=) rs369398952 0.00001
NM_000520.6(HEXA):c.1548C>T (p.Pro516=) rs1322003883 0.00001
NM_000520.6(HEXA):c.167C>T (p.Pro56Leu) rs955535343 0.00001
NM_000520.6(HEXA):c.168C>T (p.Pro56=) rs777515618 0.00001
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter) rs759092928 0.00001
NM_000520.6(HEXA):c.197A>G (p.Gln66Arg) rs753442808 0.00001
NM_000520.6(HEXA):c.1A>G (p.Met1Val) rs121907965 0.00001
NM_000520.6(HEXA):c.204T>C (p.Tyr68=) rs2089056122 0.00001
NM_000520.6(HEXA):c.210C>T (p.Asp70=) rs1377654671 0.00001
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter) rs769035623 0.00001
NM_000520.6(HEXA):c.237C>T (p.Pro79=) rs763428989 0.00001
NM_000520.6(HEXA):c.241C>A (p.Pro81Thr) rs144231599 0.00001
NM_000520.6(HEXA):c.253+1G>A rs770093080 0.00001
NM_000520.6(HEXA):c.260G>A (p.Arg87Gln) rs766966378 0.00001
NM_000520.6(HEXA):c.275A>G (p.Lys92Arg) rs1208872523 0.00001
NM_000520.6(HEXA):c.291C>T (p.Val97=) rs776967919 0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721 0.00001
NM_000520.6(HEXA):c.303A>G (p.Thr101=) rs970894400 0.00001
NM_000520.6(HEXA):c.325A>T (p.Thr109Ser) rs1269110075 0.00001
NM_000520.6(HEXA):c.32T>C (p.Leu11Pro) rs141120074 0.00001
NM_000520.6(HEXA):c.345T>G (p.Asn115Lys) rs774220090 0.00001
NM_000520.6(HEXA):c.346+1G>C rs797044432 0.00001
NM_000520.6(HEXA):c.346+2dup rs1430416918 0.00001
NM_000520.6(HEXA):c.347A>T (p.Tyr116Phe) rs1282031681 0.00001
NM_000520.6(HEXA):c.357C>T (p.Thr119=) rs1242269336 0.00001
NM_000520.6(HEXA):c.373T>G (p.Cys125Gly) rs1365750130 0.00001
NM_000520.6(HEXA):c.388G>C (p.Glu130Gln) rs917904407 0.00001
NM_000520.6(HEXA):c.393T>G (p.Thr131=) rs763015329 0.00001
NM_000520.6(HEXA):c.410G>A (p.Arg137Gln) rs769724246 0.00001
NM_000520.6(HEXA):c.412+13G>A rs1391540037 0.00001
NM_000520.6(HEXA):c.413-19C>T rs2088734265 0.00001
NM_000520.6(HEXA):c.413-4C>T rs373382175 0.00001
NM_000520.6(HEXA):c.460-8C>T rs1437923865 0.00001
NM_000520.6(HEXA):c.48C>T (p.Phe16=) rs772706192 0.00001
NM_000520.6(HEXA):c.503C>T (p.Pro168Leu) rs1459050143 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957 0.00001
NM_000520.6(HEXA):c.536A>G (p.His179Arg) rs747372270 0.00001
NM_000520.6(HEXA):c.55C>T (p.Arg19Trp) rs1166889033 0.00001
NM_000520.6(HEXA):c.570G>T (p.Leu190=) rs1188885214 0.00001
NM_000520.6(HEXA):c.571-16G>A rs771550714 0.00001
NM_000520.6(HEXA):c.571-19T>G rs576601675 0.00001
NM_000520.6(HEXA):c.574G>A (p.Val192Ile) rs387906310 0.00001
NM_000520.6(HEXA):c.587A>G (p.Asn196Ser) rs753862880 0.00001
NM_000520.6(HEXA):c.597C>T (p.Asn199=) rs756010672 0.00001
NM_000520.6(HEXA):c.598G>A (p.Val200Met) rs1800429 0.00001
NM_000520.6(HEXA):c.621T>C (p.Asp207=) rs763649208 0.00001
NM_000520.6(HEXA):c.636A>G (p.Pro212=) rs774842392 0.00001
NM_000520.6(HEXA):c.664A>C (p.Met222Leu) rs768751360 0.00001
NM_000520.6(HEXA):c.672+10C>T rs2088689193 0.00001
NM_000520.6(HEXA):c.672+11G>A rs1196402639 0.00001
NM_000520.6(HEXA):c.6A>G (p.Thr2=) rs1372094460 0.00001
NM_000520.6(HEXA):c.705A>G (p.Thr235=) rs781164103 0.00001
NM_000520.6(HEXA):c.735C>T (p.Tyr245=) rs777460475 0.00001
NM_000520.6(HEXA):c.740G>A (p.Arg247Gln) rs1360213217 0.00001
NM_000520.6(HEXA):c.741G>A (p.Arg247=) rs76873846 0.00001
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738 0.00001
NM_000520.6(HEXA):c.755G>A (p.Arg252His) rs762255098 0.00001
NM_000520.6(HEXA):c.772G>C (p.Asp258His) rs121907971 0.00001
NM_000520.6(HEXA):c.795C>T (p.Ser265=) rs746942625 0.00001
NM_000520.6(HEXA):c.7A>G (p.Ser3Gly) rs1277583383 0.00001
NM_000520.6(HEXA):c.805+1G>C rs121907980 0.00001
NM_000520.6(HEXA):c.82C>T (p.Gln28Ter) rs751393950 0.00001
NM_000520.6(HEXA):c.867A>G (p.Pro289=) rs1420729942 0.00001
NM_000520.6(HEXA):c.876C>T (p.Pro292=) rs143009489 0.00001
NM_000520.6(HEXA):c.884A>G (p.Asn295Ser) rs199578185 0.00001
NM_000520.6(HEXA):c.901A>C (p.Met301Leu) rs758871181 0.00001
NM_000520.6(HEXA):c.917T>G (p.Leu306Ter) rs1567297439 0.00001
NM_000520.6(HEXA):c.957T>C (p.Leu319=) rs373799508 0.00001
NM_000520.6(HEXA):c.961G>A (p.Gly321Arg) rs556877212 0.00001
NM_000520.6(HEXA):c.972T>A (p.Val324=) rs28942072 0.00001
NM_000520.6(HEXA):c.987-14C>T rs766562662 0.00001
NM_000520.6(HEXA):c.987-15T>C rs754219266 0.00001
NM_000520.6(HEXA):c.987-18T>G rs374977824 0.00001
NM_000520.6(HEXA):c.987-8G>C rs760923149 0.00001
NM_000521.4(HEXB):c.1041A>G (p.Gln347=) rs755091383 0.00001
NM_000521.4(HEXB):c.1165dup (p.Gln389fs) rs1749680051 0.00001
NM_000521.4(HEXB):c.1242+17C>A rs1223566396 0.00001
NM_000521.4(HEXB):c.1242G>A (p.Lys414=) rs1309123671 0.00001
NM_000521.4(HEXB):c.1243-2A>G rs398123446 0.00001
NM_000521.4(HEXB):c.1243-8G>A rs776913614 0.00001
NM_000521.4(HEXB):c.126G>A (p.Ala42=) rs1457481809 0.00001
NM_000521.4(HEXB):c.138G>T (p.Pro46=) rs1378693652 0.00001
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser) rs762892362 0.00001
NM_000521.4(HEXB):c.1445T>C (p.Ile482Thr) rs773007352 0.00001
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter) rs1554034452 0.00001
NM_000521.4(HEXB):c.1482T>C (p.Asp494=) rs1241194558 0.00001
NM_000521.4(HEXB):c.1508+1G>A rs758459585 0.00001
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln) rs121907983 0.00001
NM_000521.4(HEXB):c.1538T>C (p.Leu513Pro) rs778501777 0.00001
NM_000521.4(HEXB):c.1539C>A (p.Leu513=) rs1258974496 0.00001
NM_000521.4(HEXB):c.156G>A (p.Pro52=) rs758965664 0.00001
NM_000521.4(HEXB):c.1598G>A (p.Arg533His) rs1291555996 0.00001
NM_000521.4(HEXB):c.1614-10T>C rs1579958155 0.00001
NM_000521.4(HEXB):c.1614-16_1622dup rs756912360 0.00001
NM_000521.4(HEXB):c.1614-4A>G rs1182075193 0.00001
NM_000521.4(HEXB):c.1625C>T (p.Ala542Val) rs767663018 0.00001
NM_000521.4(HEXB):c.1650T>C (p.Tyr550=) rs1315099188 0.00001
NM_000521.4(HEXB):c.1655A>G (p.Asn552Ser) rs763927371 0.00001
NM_000521.4(HEXB):c.180G>A (p.Pro60=) rs772089862 0.00001
NM_000521.4(HEXB):c.189G>A (p.Val63=) rs145144279 0.00001
NM_000521.4(HEXB):c.210G>T (p.Leu70=) rs552152839 0.00001
NM_000521.4(HEXB):c.249C>T (p.Pro83=) rs776301441 0.00001
NM_000521.4(HEXB):c.331T>C (p.Trp111Arg) rs1193552297 0.00001
NM_000521.4(HEXB):c.33G>T (p.Pro11=) rs1207274571 0.00001
NM_000521.4(HEXB):c.36C>T (p.Pro12=) rs1311449316 0.00001
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro) rs938611392 0.00001
NM_000521.4(HEXB):c.471G>A (p.Val157=) rs918729308 0.00001
NM_000521.4(HEXB):c.486C>A (p.Ala162=) rs1342668095 0.00001
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter) rs753823903 0.00001
NM_000521.4(HEXB):c.525T>C (p.Phe175=) rs766197541 0.00001
NM_000521.4(HEXB):c.558+5G>A rs892920643 0.00001
NM_000521.4(HEXB):c.584T>C (p.Ile195Thr) rs765229504 0.00001
NM_000521.4(HEXB):c.59C>A (p.Ala20Glu) rs865822685 0.00001
NM_000521.4(HEXB):c.654T>C (p.Ile218=) rs1395527567 0.00001
NM_000521.4(HEXB):c.66G>A (p.Leu22=) rs1355564918 0.00001
NM_000521.4(HEXB):c.69G>T (p.Leu23=) rs1453045657 0.00001
NM_000521.4(HEXB):c.723C>T (p.Asp241=) rs779260926 0.00001
NM_000521.4(HEXB):c.738T>C (p.Tyr246=) rs777853621 0.00001
NM_000521.4(HEXB):c.786G>T (p.Leu262Phe) rs867255937 0.00001
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp) rs373979283 0.00001
NM_000521.4(HEXB):c.841C>T (p.Arg281Ter) rs138914144 0.00001
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter) rs121907986 0.00001
NM_000521.4(HEXB):c.855C>A (p.Val285=) rs781190762 0.00001
NM_000521.4(HEXB):c.873C>T (p.Thr291=) rs778593630 0.00001
NM_000521.4(HEXB):c.878G>C (p.Gly293Ala) rs1255790136 0.00001
NM_000521.4(HEXB):c.888A>G (p.Leu296=) rs1186019854 0.00001
NM_000521.4(HEXB):c.902-5T>G rs201521887 0.00001
NM_000521.4(HEXB):c.965del (p.Ile322fs) rs768438206 0.00001
NM_000784.4(CYP27A1):c.1017+14G>A rs1196582375 0.00001
NM_000784.4(CYP27A1):c.1017+1G>A rs1943742261 0.00001
NM_000784.4(CYP27A1):c.1017+4C>T rs763008570 0.00001
NM_000784.4(CYP27A1):c.1059G>T (p.Lys353Asn) rs372343607 0.00001
NM_000784.4(CYP27A1):c.1075G>C (p.Glu359Gln) rs760471205 0.00001
NM_000784.4(CYP27A1):c.1086C>T (p.His362=) rs139426361 0.00001
NM_000784.4(CYP27A1):c.1101T>G (p.Gly367=) rs752360378 0.00001
NM_000784.4(CYP27A1):c.1125C>G (p.Pro375=) rs202049251 0.00001
NM_000784.4(CYP27A1):c.113A>T (p.Asp38Val) rs1201499588 0.00001
NM_000784.4(CYP27A1):c.1162G>A (p.Ala388Thr) rs1201958431 0.00001
NM_000784.4(CYP27A1):c.1175A>C (p.Glu392Ala) rs1245201394 0.00001
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro) rs1406298698 0.00001
NM_000784.4(CYP27A1):c.1185-13C>A rs772157208 0.00001
NM_000784.4(CYP27A1):c.1185-16A>G rs779178036 0.00001
NM_000784.4(CYP27A1):c.1185-1G>A rs587778779 0.00001
NM_000784.4(CYP27A1):c.1195G>T (p.Val399Leu) rs1453048118 0.00001
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) rs573951598 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.1254C>T (p.Phe418=) rs779041544 0.00001
NM_000784.4(CYP27A1):c.1263+10G>A rs775546941 0.00001
NM_000784.4(CYP27A1):c.1263+19C>A rs377513951 0.00001
NM_000784.4(CYP27A1):c.1263+2T>C rs777935791 0.00001
NM_000784.4(CYP27A1):c.1263+5G>T rs587778784 0.00001
NM_000784.4(CYP27A1):c.1263C>T (p.Asn421=) rs748358246 0.00001
NM_000784.4(CYP27A1):c.126A>G (p.Gly42=) rs1238340088 0.00001
NM_000784.4(CYP27A1):c.1309G>T (p.Ala437Ser) rs1337764272 0.00001
NM_000784.4(CYP27A1):c.1311C>T (p.Ala437=) rs886044581 0.00001
NM_000784.4(CYP27A1):c.1317T>G (p.Ser439=) rs1943767251 0.00001
NM_000784.4(CYP27A1):c.1334A>G (p.Gln445Arg) rs765660985 0.00001
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys) rs730882199 0.00001
NM_000784.4(CYP27A1):c.1349T>C (p.Leu450Pro) rs1480110004 0.00001
NM_000784.4(CYP27A1):c.1369A>G (p.Thr457Ala) rs373870129 0.00001
NM_000784.4(CYP27A1):c.1374C>A (p.Pro458=) rs55998945 0.00001
NM_000784.4(CYP27A1):c.1375A>C (p.Arg459=) rs755008787 0.00001
NM_000784.4(CYP27A1):c.1407T>C (p.Phe469=) rs1423547583 0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) rs200883871 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_000784.4(CYP27A1):c.1477-18G>A rs886703307 0.00001
NM_000784.4(CYP27A1):c.1477-5C>A rs890298373 0.00001
NM_000784.4(CYP27A1):c.1477-8C>T rs1461082000 0.00001
NM_000784.4(CYP27A1):c.1488G>A (p.Lys496=) rs1379650960 0.00001
NM_000784.4(CYP27A1):c.1503G>A (p.Leu501=) rs1336081746 0.00001
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=) rs886656814 0.00001
NM_000784.4(CYP27A1):c.1520A>T (p.Glu507Val) rs767162764 0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) rs560108684 0.00001
NM_000784.4(CYP27A1):c.1541T>C (p.Ile514Thr) rs370013480 0.00001
NM_000784.4(CYP27A1):c.1553C>G (p.Pro518Arg) rs143844199 0.00001
NM_000784.4(CYP27A1):c.1557T>C (p.Asn519=) rs1375435703 0.00001
NM_000784.4(CYP27A1):c.1573C>A (p.Gln525Lys) rs374507635 0.00001
NM_000784.4(CYP27A1):c.158G>T (p.Arg53Leu) rs376993392 0.00001
NM_000784.4(CYP27A1):c.1590G>A (p.Gln530=) rs1943775029 0.00001
NM_000784.4(CYP27A1):c.1591del (p.Cys531fs) rs755723759 0.00001
NM_000784.4(CYP27A1):c.192A>G (p.Gly64=) rs1366418494 0.00001
NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys) rs587780327 0.00001
NM_000784.4(CYP27A1):c.214C>T (p.Leu72=) rs747003400 0.00001
NM_000784.4(CYP27A1):c.255+8G>A rs774689564 0.00001
NM_000784.4(CYP27A1):c.255+9C>T rs762433789 0.00001
NM_000784.4(CYP27A1):c.256-3C>T rs1559391389 0.00001
NM_000784.4(CYP27A1):c.256-8C>A rs1416013036 0.00001
NM_000784.4(CYP27A1):c.273G>A (p.Lys91=) rs1559391394 0.00001
NM_000784.4(CYP27A1):c.294C>T (p.Ser98=) rs1696186258 0.00001
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr) rs759003992 0.00001
NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter) rs1398584213 0.00001
NM_000784.4(CYP27A1):c.335C>T (p.Pro112Leu) rs531504325 0.00001
NM_000784.4(CYP27A1):c.336G>A (p.Pro112=) rs1413155008 0.00001
NM_000784.4(CYP27A1):c.33G>A (p.Trp11Ter) rs1319938730 0.00001
NM_000784.4(CYP27A1):c.343G>C (p.Glu115Gln) rs1298533109 0.00001
NM_000784.4(CYP27A1):c.38T>C (p.Leu13Pro) rs1243753558 0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312 0.00001
NM_000784.4(CYP27A1):c.416A>G (p.Gln139Arg) rs1253807962 0.00001
NM_000784.4(CYP27A1):c.432T>C (p.Tyr144=) rs1553616026 0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796 0.00001
NM_000784.4(CYP27A1):c.443C>G (p.Thr148Ser) rs1404621754 0.00001
NM_000784.4(CYP27A1):c.446+15G>A rs775813515 0.00001
NM_000784.4(CYP27A1):c.446+1G>A rs587778797 0.00001
NM_000784.4(CYP27A1):c.447-7C>T rs746321278 0.00001
NM_000784.4(CYP27A1):c.45G>A (p.Gly15=) rs988463082 0.00001
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter) rs72551314 0.00001
NM_000784.4(CYP27A1):c.484A>C (p.Asn162His) rs1235744900 0.00001
NM_000784.4(CYP27A1):c.516G>A (p.Ala172=) rs749708223 0.00001
NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly) rs748325824 0.00001
NM_000784.4(CYP27A1):c.56G>T (p.Gly19Val) rs1203579586 0.00001
NM_000784.4(CYP27A1):c.577C>T (p.Arg193Trp) rs1045858420 0.00001
NM_000784.4(CYP27A1):c.587G>T (p.Ser196Ile) rs375643077 0.00001
NM_000784.4(CYP27A1):c.62G>A (p.Cys21Tyr) rs757653354 0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271 0.00001
NM_000784.4(CYP27A1):c.654C>T (p.Cys218=) rs1943729887 0.00001
NM_000784.4(CYP27A1):c.667G>A (p.Glu223Lys) rs760323157 0.00001
NM_000784.4(CYP27A1):c.681C>T (p.Gly227=) rs1182190234 0.00001
NM_000784.4(CYP27A1):c.68A>C (p.His23Pro) rs1943398664 0.00001
NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter) rs72551315 0.00001
NM_000784.4(CYP27A1):c.693A>G (p.Arg231=) rs1187804477 0.00001
NM_000784.4(CYP27A1):c.699C>A (p.Ile233=) rs1178297854 0.00001
NM_000784.4(CYP27A1):c.69C>T (p.His23=) rs1444634924 0.00001
NM_000784.4(CYP27A1):c.705G>A (p.Glu235=) rs1943733748 0.00001
NM_000784.4(CYP27A1):c.720C>T (p.Phe240=) rs748075933 0.00001
NM_000784.4(CYP27A1):c.732C>T (p.Ile244=) rs1224145759 0.00001
NM_000784.4(CYP27A1):c.733G>A (p.Gly245Arg) rs746666035 0.00001
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter) rs72551316 0.00001
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg) rs72551317 0.00001
NM_000784.4(CYP27A1):c.77G>A (p.Arg26Lys) rs192494481 0.00001
NM_000784.4(CYP27A1):c.781A>G (p.Thr261Ala) rs1271066819 0.00001
NM_000784.4(CYP27A1):c.788C>G (p.Pro263Arg) rs1274003022 0.00001
NM_000784.4(CYP27A1):c.845-3C>T rs768674577 0.00001
NM_000784.4(CYP27A1):c.84G>C (p.Lys28Asn) rs958713867 0.00001
NM_000784.4(CYP27A1):c.866A>C (p.Lys289Thr) rs371056722 0.00001
NM_000784.4(CYP27A1):c.882G>A (p.Glu294=) rs59428328 0.00001
NM_000784.4(CYP27A1):c.883G>C (p.Ala295Pro) rs371133296 0.00001
NM_000784.4(CYP27A1):c.968G>A (p.Arg323Gln) rs769640126 0.00001
NM_000784.4(CYP27A1):c.990T>C (p.Pro330=) rs1227319154 0.00001
NM_001042432.2(CLN3):c.1005T>C (p.Ser335=) rs1188156280 0.00001
NM_001042432.2(CLN3):c.1013G>A (p.Arg338His) rs557870972 0.00001
NM_001042432.2(CLN3):c.1017C>G (p.Cys339Trp) rs768479701 0.00001
NM_001042432.2(CLN3):c.1021C>T (p.Arg341Cys) rs775195638 0.00001
NM_001042432.2(CLN3):c.102T>C (p.His34=) rs774549218 0.00001
NM_001042432.2(CLN3):c.1033A>T (p.Thr345Ser) rs150986176 0.00001
NM_001042432.2(CLN3):c.1057-16C>T rs771215908 0.00001
NM_001042432.2(CLN3):c.1057-5C>T rs1266477971 0.00001
NM_001042432.2(CLN3):c.1066C>T (p.Leu356=) rs1222084100 0.00001
NM_001042432.2(CLN3):c.1074C>T (p.Phe358=) rs1275580991 0.00001
NM_001042432.2(CLN3):c.1078C>T (p.Leu360=) rs1232787477 0.00001
NM_001042432.2(CLN3):c.108G>A (p.Lys36=) rs761453819 0.00001
NM_001042432.2(CLN3):c.1132A>G (p.Ile378Val) rs147658282 0.00001
NM_001042432.2(CLN3):c.1152G>C (p.Leu384=) rs762171432 0.00001
NM_001042432.2(CLN3):c.1159G>A (p.Ala387Thr) rs768614719 0.00001
NM_001042432.2(CLN3):c.1179C>T (p.Phe393=) rs755948129 0.00001
NM_001042432.2(CLN3):c.1188C>T (p.Ile396=) rs926869261 0.00001
NM_001042432.2(CLN3):c.1191C>T (p.Ala397=) rs779338007 0.00001
NM_001042432.2(CLN3):c.1192C>G (p.Leu398Val) rs751114018 0.00001
NM_001042432.2(CLN3):c.1197+14G>A rs764711492 0.00001
NM_001042432.2(CLN3):c.1198-14C>G rs757911107 0.00001
NM_001042432.2(CLN3):c.1198-1G>T rs386833702 0.00001
NM_001042432.2(CLN3):c.120C>T (p.Gly40=) rs1457597143 0.00001
NM_001042432.2(CLN3):c.1214G>A (p.Arg405Gln) rs747861558 0.00001
NM_001042432.2(CLN3):c.1225A>G (p.Met409Val) rs776443981 0.00001
NM_001042432.2(CLN3):c.1233C>T (p.Ala411=) rs1220767949 0.00001
NM_001042432.2(CLN3):c.1234A>G (p.Thr412Ala) rs1064795206 0.00001
NM_001042432.2(CLN3):c.1242C>T (p.Ile414=) rs1064886 0.00001
NM_001042432.2(CLN3):c.1249A>G (p.Thr417Ala) rs570472210 0.00001
NM_001042432.2(CLN3):c.125+5G>A rs386833704 0.00001
NM_001042432.2(CLN3):c.125+6T>C rs745440092 0.00001
NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu) rs796052338 0.00001
NM_001042432.2(CLN3):c.1257G>T (p.Gly419=) rs756893993 0.00001
NM_001042432.2(CLN3):c.1268C>T (p.Ser423Leu) rs386833706 0.00001
NM_001042432.2(CLN3):c.129G>A (p.Leu43=) rs755493834 0.00001
NM_001042432.2(CLN3):c.144C>T (p.Asn48=) rs1289753739 0.00001
NM_001042432.2(CLN3):c.146A>G (p.Asn49Ser) rs1474384057 0.00001
NM_001042432.2(CLN3):c.147C>T (p.Asn49=) rs571216643 0.00001
NM_001042432.2(CLN3):c.152C>T (p.Ser51Phe) rs780151271 0.00001
NM_001042432.2(CLN3):c.181G>A (p.Asp61Asn) rs772851701 0.00001
NM_001042432.2(CLN3):c.196A>G (p.Lys66Glu) rs963189449 0.00001
NM_001042432.2(CLN3):c.1A>G (p.Met1Val) rs386833708 0.00001
NM_001042432.2(CLN3):c.207G>A (p.Ser69=) rs551476103 0.00001
NM_001042432.2(CLN3):c.209G>A (p.Gly70Glu) rs747526330 0.00001
NM_001042432.2(CLN3):c.214C>T (p.Gln72Ter) rs386833709 0.00001
NM_001042432.2(CLN3):c.223-10C>T rs1467517533 0.00001
NM_001042432.2(CLN3):c.223-3T>C rs776314679 0.00001
NM_001042432.2(CLN3):c.253A>C (p.Asn85His) rs996285915 0.00001
NM_001042432.2(CLN3):c.266G>A (p.Arg89Gln) rs766287694 0.00001
NM_001042432.2(CLN3):c.277A>G (p.Asn93Asp) rs761369095 0.00001
NM_001042432.2(CLN3):c.294+12_294+14del rs777491825 0.00001
NM_001042432.2(CLN3):c.294+5G>A rs780921389 0.00001
NM_001042432.2(CLN3):c.295-3C>T rs767755377 0.00001
NM_001042432.2(CLN3):c.298G>C (p.Val100Leu) rs1478662819 0.00001
NM_001042432.2(CLN3):c.308C>T (p.Ala103Val) rs760039703 0.00001
NM_001042432.2(CLN3):c.309G>A (p.Ala103=) rs774996613 0.00001
NM_001042432.2(CLN3):c.327C>T (p.Leu109=) rs748293490 0.00001
NM_001042432.2(CLN3):c.328G>A (p.Val110Ile) rs781534624 0.00001
NM_001042432.2(CLN3):c.331A>G (p.Ile111Val) rs1331033517 0.00001
NM_001042432.2(CLN3):c.33T>C (p.Phe11=) rs1555469504 0.00001
NM_001042432.2(CLN3):c.353G>A (p.Gly118Asp) rs753305901 0.00001
NM_001042432.2(CLN3):c.374+9G>A rs766949077 0.00001
NM_001042432.2(CLN3):c.375-10A>G rs1282980213 0.00001
NM_001042432.2(CLN3):c.375-6C>G rs780653906 0.00001
NM_001042432.2(CLN3):c.375-7C>T rs1224517800 0.00001
NM_001042432.2(CLN3):c.379C>T (p.Arg127Trp) rs201168980 0.00001
NM_001042432.2(CLN3):c.381G>C (p.Arg127=) rs750889321 0.00001
NM_001042432.2(CLN3):c.387C>T (p.Leu129=) rs765776873 0.00001
NM_001042432.2(CLN3):c.397A>G (p.Ile133Val) rs1295659689 0.00001
NM_001042432.2(CLN3):c.399T>C (p.Ile133=) rs775739498 0.00001
NM_001042432.2(CLN3):c.436C>T (p.His146Tyr) rs371590088 0.00001
NM_001042432.2(CLN3):c.437A>G (p.His146Arg) rs1197989757 0.00001
NM_001042432.2(CLN3):c.461-16C>T rs753816100 0.00001
NM_001042432.2(CLN3):c.461-1G>T rs386833722 0.00001
NM_001042432.2(CLN3):c.461-4C>A rs1006236175 0.00001
NM_001042432.2(CLN3):c.461-4C>T rs1006236175 0.00001
NM_001042432.2(CLN3):c.464T>G (p.Val155Gly) rs779304920 0.00001
NM_001042432.2(CLN3):c.47-11C>A rs561083322 0.00001
NM_001042432.2(CLN3):c.47-1G>A rs1555469477 0.00001
NM_001042432.2(CLN3):c.47-7C>T rs776361372 0.00001
NM_001042432.2(CLN3):c.471C>T (p.Phe157=) rs140670783 0.00001
NM_001042432.2(CLN3):c.533+10T>G rs1447196278 0.00001
NM_001042432.2(CLN3):c.533+18G>A rs376160790 0.00001
NM_001042432.2(CLN3):c.538G>A (p.Val180Met) rs202215629 0.00001
NM_001042432.2(CLN3):c.543C>T (p.Ile181=) rs2046221104 0.00001
NM_001042432.2(CLN3):c.558A>G (p.Ser186=) rs1270038866 0.00001
NM_001042432.2(CLN3):c.576G>A (p.Gly192=) rs566516380 0.00001
NM_001042432.2(CLN3):c.621C>G (p.Leu207=) rs1596561484 0.00001
NM_001042432.2(CLN3):c.622dup (p.Ser208fs) rs386833736 0.00001
NM_001042432.2(CLN3):c.634A>G (p.Thr212Ala) rs1335425316 0.00001
NM_001042432.2(CLN3):c.647T>A (p.Met216Lys) rs773602052 0.00001
NM_001042432.2(CLN3):c.665T>A (p.Leu222Gln) rs781613318 0.00001
NM_001042432.2(CLN3):c.677+19G>A rs367594758 0.00001
NM_001042432.2(CLN3):c.678-19G>A rs770134980 0.00001
NM_001042432.2(CLN3):c.67C>T (p.Pro23Ser) rs757558651 0.00001
NM_001042432.2(CLN3):c.685T>C (p.Leu229=) rs779965094 0.00001
NM_001042432.2(CLN3):c.687G>A (p.Leu229=) rs772327361 0.00001
NM_001042432.2(CLN3):c.740G>A (p.Ser247Asn) rs1295758958 0.00001
NM_001042432.2(CLN3):c.742G>A (p.Ala248Thr) rs750008067 0.00001
NM_001042432.2(CLN3):c.752A>C (p.Gln251Pro) rs776890506 0.00001
NM_001042432.2(CLN3):c.757C>G (p.Leu253Val) rs776122422 0.00001
NM_001042432.2(CLN3):c.761T>C (p.Ile254Thr) rs745948575 0.00001
NM_001042432.2(CLN3):c.769G>A (p.Glu257Lys) rs771303379 0.00001
NM_001042432.2(CLN3):c.773C>T (p.Ala258Val) rs780823167 0.00001
NM_001042432.2(CLN3):c.777G>A (p.Pro259=) rs751443804 0.00001
NM_001042432.2(CLN3):c.782C>T (p.Ser261Leu) rs199627744 0.00001
NM_001042432.2(CLN3):c.783G>A (p.Ser261=) rs752632879 0.00001
NM_001042432.2(CLN3):c.790+9C>T rs1220855528 0.00001
NM_001042432.2(CLN3):c.791-7C>A rs942972881 0.00001
NM_001042432.2(CLN3):c.7G>C (p.Gly3Arg) rs1398814860 0.00001
NM_001042432.2(CLN3):c.837+12G>A rs763812265 0.00001
NM_001042432.2(CLN3):c.837+5G>A rs756848924 0.00001
NM_001042432.2(CLN3):c.850T>C (p.Tyr284His) rs201090501 0.00001
NM_001042432.2(CLN3):c.860C>T (p.Pro287Leu) rs1262182257 0.00001
NM_001042432.2(CLN3):c.871G>C (p.Val291Leu) rs1218676230 0.00001
NM_001042432.2(CLN3):c.875A>G (p.Tyr292Cys) rs755402909 0.00001
NM_001042432.2(CLN3):c.882C>T (p.Ala294=) rs766972077 0.00001
NM_001042432.2(CLN3):c.89A>G (p.His30Arg) rs1399199073 0.00001
NM_001042432.2(CLN3):c.8G>A (p.Gly3Asp) rs756062000 0.00001
NM_001042432.2(CLN3):c.906+2T>A rs771788391 0.00001
NM_001042432.2(CLN3):c.945C>T (p.His315=) rs747723206 0.00001
NM_001042432.2(CLN3):c.949C>T (p.Gln317Ter) rs796052335 0.00001
NM_001042432.2(CLN3):c.958C>T (p.Arg320Cys) rs768466445 0.00001
NM_001042432.2(CLN3):c.962+11C>T rs1419376753 0.00001
NM_001042432.2(CLN3):c.962+12G>A rs780419236 0.00001
NM_001042432.2(CLN3):c.962+2T>G rs746674736 0.00001
NM_001042432.2(CLN3):c.962+3A>T rs796052336 0.00001
NM_001042432.2(CLN3):c.963-17C>G rs746616613 0.00001
NM_001042432.2(CLN3):c.963-1G>A rs386833742 0.00001
NM_001042432.2(CLN3):c.987C>T (p.Gly329=) rs777779035 0.00001
NM_001042432.2(CLN3):c.999C>A (p.Ser333=) rs1312281174 0.00001
NM_001042432.2(CLN3):c.99G>T (p.Ala33=) rs1342527040 0.00001
NM_001909.5(CTSD):c.1008C>T (p.Pro336=) rs769758232 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.1065G>A (p.Thr355=) rs377098800 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.1071+17G>A rs779757362 0.00001
NM_001909.5(CTSD):c.1072-9C>T rs1239405435 0.00001
NM_001909.5(CTSD):c.1083C>T (p.Ala361=) rs770325576 0.00001
NM_001909.5(CTSD):c.1104C>T (p.Ser368=) rs771647299 0.00001
NM_001909.5(CTSD):c.1116C>T (p.Gly372=) rs557342549 0.00001
NM_001909.5(CTSD):c.1128G>A (p.Pro376=) rs929763593 0.00001
NM_001909.5(CTSD):c.1140G>A (p.Gly380=) rs573523415 0.00001
NM_001909.5(CTSD):c.1150A>G (p.Ile384Val) rs767863175 0.00001
NM_001909.5(CTSD):c.1158C>T (p.Gly386=) rs762076054 0.00001
NM_001909.5(CTSD):c.1159G>A (p.Asp387Asn) rs764522039 0.00001
NM_001909.5(CTSD):c.1170C>T (p.Ile390=) rs370985523 0.00001
NM_001909.5(CTSD):c.1209G>A (p.Arg403=) rs756019204 0.00001
NM_001909.5(CTSD):c.1221C>T (p.Ala407=) rs1439111867 0.00001
NM_001909.5(CTSD):c.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.150C>T (p.Gly50=) rs151292135 0.00001
NM_001909.5(CTSD):c.183C>T (p.Ala61=) rs370571459 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.204C>T (p.Pro68=) rs563052262 0.00001
NM_001909.5(CTSD):c.223A>G (p.Met75Val) rs144192783 0.00001
NM_001909.5(CTSD):c.228+14C>A rs1845872918 0.00001
NM_001909.5(CTSD):c.228C>T (p.Asp76=) rs587780914 0.00001
NM_001909.5(CTSD):c.229-19G>A rs368152533 0.00001
NM_001909.5(CTSD):c.229-20C>T rs748457876 0.00001
NM_001909.5(CTSD):c.237C>T (p.Tyr79=) rs996421254 0.00001
NM_001909.5(CTSD):c.241G>A (p.Gly81Arg) rs199551387 0.00001
NM_001909.5(CTSD):c.244G>T (p.Glu82Ter) rs1845850847 0.00001
NM_001909.5(CTSD):c.24G>C (p.Pro8=) rs1478870280 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.345C>T (p.Ile115=) rs200875086 0.00001
NM_001909.5(CTSD):c.353-20C>T rs1845843686 0.00001
NM_001909.5(CTSD):c.353-7G>A rs1438596750 0.00001
NM_001909.5(CTSD):c.366G>A (p.Lys122=) rs369424685 0.00001
NM_001909.5(CTSD):c.371A>G (p.Asn124Ser) rs375052866 0.00001
NM_001909.5(CTSD):c.375C>T (p.Ser125=) rs987735225 0.00001
NM_001909.5(CTSD):c.380A>T (p.Lys127Met) rs1438409242 0.00001
NM_001909.5(CTSD):c.408C>G (p.Thr136=) rs1060504644 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.472-15T>C rs758874267 0.00001
NM_001909.5(CTSD):c.488C>T (p.Ala163Val) rs772976217 0.00001
NM_001909.5(CTSD):c.489G>A (p.Ala163=) rs767476700 0.00001
NM_001909.5(CTSD):c.491C>T (p.Ser164Leu) rs1845824897 0.00001
NM_001909.5(CTSD):c.492G>A (p.Ser164=) rs577842448 0.00001
NM_001909.5(CTSD):c.518A>G (p.Lys173Arg) rs746140722 0.00001
NM_001909.5(CTSD):c.51C>T (p.Pro17=) rs1275398258 0.00001
NM_001909.5(CTSD):c.54C>T (p.Ala18=) rs753164840 0.00001
NM_001909.5(CTSD):c.552G>A (p.Lys184=) rs765849046 0.00001
NM_001909.5(CTSD):c.60G>A (p.Ala20=) rs1225756370 0.00001
NM_001909.5(CTSD):c.621C>A (p.Ser207=) rs367978332 0.00001
NM_001909.5(CTSD):c.631G>A (p.Val211Met) rs779469223 0.00001
NM_001909.5(CTSD):c.636G>T (p.Leu212=) rs567625495 0.00001
NM_001909.5(CTSD):c.63C>T (p.Leu21=) rs1021613206 0.00001
NM_001909.5(CTSD):c.640G>A (p.Val214Ile) rs756998360 0.00001
NM_001909.5(CTSD):c.651C>T (p.Asn217=) rs1300811596 0.00001
NM_001909.5(CTSD):c.654G>A (p.Leu218=) rs201551100 0.00001
NM_001909.5(CTSD):c.675C>T (p.Asp225=) rs752646929 0.00001
NM_001909.5(CTSD):c.69-11G>A rs199970909 0.00001
NM_001909.5(CTSD):c.704+13G>A rs1337575299 0.00001
NM_001909.5(CTSD):c.705-4C>T rs1057521968 0.00001
NM_001909.5(CTSD):c.705-8C>T rs754748489 0.00001
NM_001909.5(CTSD):c.716C>T (p.Ala239Val) rs759564989 0.00001
NM_001909.5(CTSD):c.726G>A (p.Gly242=) rs774246142 0.00001
NM_001909.5(CTSD):c.729T>C (p.Gly243=) rs774691757 0.00001
NM_001909.5(CTSD):c.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.827+14G>A rs952272760 0.00001
NM_001909.5(CTSD):c.827+19C>T rs565656268 0.00001
NM_001909.5(CTSD):c.827+20G>A rs763211820 0.00001
NM_001909.5(CTSD):c.827+9T>A rs757270638 0.00001
NM_001909.5(CTSD):c.828-14_828-13del rs796052395 0.00001
NM_001909.5(CTSD):c.829G>A (p.Val277Met) rs372319807 0.00001
NM_001909.5(CTSD):c.843C>T (p.Ser281=) rs776321697 0.00001
NM_001909.5(CTSD):c.891C>T (p.Gly297=) rs755183661 0.00001
NM_001909.5(CTSD):c.898C>T (p.Leu300Phe) rs1256954867 0.00001
NM_001909.5(CTSD):c.89C>T (p.Thr30Met) rs747274524 0.00001
NM_001909.5(CTSD):c.933G>A (p.Leu311=) rs1428157464 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+10G>A rs531682785 0.00001
NM_001909.5(CTSD):c.972+6C>T rs765320531 0.00001
NM_001909.5(CTSD):c.973-10C>T rs542809677 0.00001
NM_001909.5(CTSD):c.973-14G>A rs1354741089 0.00001
NM_001909.5(CTSD):c.978G>A (p.Met326Ile) rs370282882 0.00001
NM_001909.5(CTSD):c.993G>A (p.Lys331=) rs1181418072 0.00001
NM_002087.4(GRN):c.100C>T (p.Pro34Ser) rs748147151 0.00001
NM_002087.4(GRN):c.1010_1011del (p.Gln337fs) rs1598364961 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.1125C>T (p.Ser375=) rs569994549 0.00001
NM_002087.4(GRN):c.1138C>G (p.Gln380Glu) rs748829798 0.00001
NM_002087.4(GRN):c.1145del (p.Thr382fs) rs63750805 0.00001
NM_002087.4(GRN):c.1146G>A (p.Thr382=) rs200308105 0.00001
NM_002087.4(GRN):c.1180-16C>A rs1167667946 0.00001
NM_002087.4(GRN):c.1180-8C>T rs774308165 0.00001
NM_002087.4(GRN):c.1197C>A (p.Asp399Glu) rs956013468 0.00001
NM_002087.4(GRN):c.1221C>A (p.Gly407=) rs201630084 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.1269G>A (p.Val423=) rs1472989013 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.1425C>T (p.Cys475=) rs63751104 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.1477C>T (p.Arg493Ter) rs63751294 0.00001
NM_002087.4(GRN):c.1486G>A (p.Glu496Lys) rs764615963 0.00001
NM_002087.4(GRN):c.1521C>T (p.Phe507=) rs140070738 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.250T>C (p.Cys84Arg) rs1598362876 0.00001
NM_002087.4(GRN):c.254C>T (p.Pro85Leu) rs1275075189 0.00001
NM_002087.4(GRN):c.267C>T (p.Ala89=) rs201699327 0.00001
NM_002087.4(GRN):c.280G>A (p.Asp94Asn) rs375678079 0.00001
NM_002087.4(GRN):c.2T>C (p.Met1Thr) rs63751006 0.00001
NM_002087.4(GRN):c.394G>A (p.Glu132Lys) rs770662203 0.00001
NM_002087.4(GRN):c.498G>A (p.Pro166=) rs141873754 0.00001
NM_002087.4(GRN):c.529C>T (p.Arg177Cys) rs751651838 0.00001
NM_002087.4(GRN):c.54G>A (p.Thr18=) rs753160641 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.627G>A (p.Pro209=) rs374385285 0.00001
NM_002087.4(GRN):c.62C>T (p.Pro21Leu) rs745947095 0.00001
NM_002087.4(GRN):c.69T>C (p.Gly23=) rs756420341 0.00001
NM_002087.4(GRN):c.708+1G>A rs63749817 0.00001
NM_002087.4(GRN):c.708C>T (p.Asn236=) rs63750744 0.00001
NM_002087.4(GRN):c.709-8C>T rs373210564 0.00001
NM_002087.4(GRN):c.804G>A (p.Thr268=) rs63750229 0.00001
NM_002087.4(GRN):c.891C>T (p.Cys297=) rs1341898712 0.00001
NM_002087.4(GRN):c.892C>T (p.Arg298Cys) rs768033215 0.00001
NM_002087.4(GRN):c.902C>T (p.Ser301Leu) rs1026683055 0.00001
NM_002087.4(GRN):c.933+7del rs762910178 0.00001
NM_002087.4(GRN):c.990G>A (p.Thr330=) rs375066213 0.00001
NM_003793.4(CTSF):c.1028C>T (p.Ser343Leu) rs200646712 0.00001
NM_003793.4(CTSF):c.213+20G>A rs1046921955 0.00001
NM_003793.4(CTSF):c.246C>A (p.Ala82=) rs756262196 0.00001
NM_003793.4(CTSF):c.722-3C>A rs1857927546 0.00001
NM_006493.2(CLN5):c.24G>A (p.Gly8=) rs751533177 0.00001
NM_006493.4(CLN5):c.-109T>A rs758802850 0.00001
NM_006493.4(CLN5):c.-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.129G>A (p.Arg43=) rs746845935 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.173+14C>T rs757017201 0.00001
NM_006493.4(CLN5):c.173+7G>T rs1485751107 0.00001
NM_006493.4(CLN5):c.177C>T (p.Arg59=) rs1696247688 0.00001
NM_006493.4(CLN5):c.17A>G (p.Asp6Gly) rs759063887 0.00001
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys) rs786205211 0.00001
NM_006493.4(CLN5):c.188G>A (p.Arg63His) rs104894386 0.00001
NM_006493.4(CLN5):c.18C>T (p.Asp6=) rs1289582170 0.00001
NM_006493.4(CLN5):c.207T>C (p.Tyr69=) rs764103764 0.00001
NM_006493.4(CLN5):c.21G>T (p.Thr7=) rs1057521258 0.00001
NM_006493.4(CLN5):c.234A>C (p.Pro78=) rs998407254 0.00001
NM_006493.4(CLN5):c.247A>G (p.Ile83Val) rs750283603 0.00001
NM_006493.4(CLN5):c.24A>G (p.Ala8=) rs757756318 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.333A>G (p.Gly111=) rs751611392 0.00001
NM_006493.4(CLN5):c.339+11A>G rs755999018 0.00001
NM_006493.4(CLN5):c.342A>G (p.Lys114=) rs770149235 0.00001
NM_006493.4(CLN5):c.3G>A (p.Met1Ile) rs1464891081 0.00001
NM_006493.4(CLN5):c.430T>C (p.Cys144Arg) rs1593911055 0.00001
NM_006493.4(CLN5):c.435A>G (p.Thr145=) rs1031492461 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.528G>A (p.Lys176=) rs776987374 0.00001
NM_006493.4(CLN5):c.565+15T>G rs751120160 0.00001
NM_006493.4(CLN5):c.565+20C>T rs780892019 0.00001
NM_006493.4(CLN5):c.565+6T>C rs758229107 0.00001
NM_006493.4(CLN5):c.618A>C (p.Gly206=) rs1240633550 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.69C>G (p.Arg23=) rs1270861626 0.00001
NM_006493.4(CLN5):c.724T>C (p.Leu242=) rs2034342969 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.925T>C (p.Leu309=) rs1316505069 0.00001
NM_006493.4(CLN5):c.935T>C (p.Phe312Ser) rs201767993 0.00001
NM_006493.4(CLN5):c.93G>A (p.Ala31=) rs971404954 0.00001
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys) rs148862100 0.00001
NM_017882.3(CLN6):c.114C>G (p.Ala38=) rs1219136331 0.00001
NM_017882.3(CLN6):c.133C>T (p.Leu45Phe) rs964241858 0.00001
NM_017882.3(CLN6):c.159G>A (p.Leu53=) rs377148534 0.00001
NM_017882.3(CLN6):c.16A>C (p.Arg6=) rs1468764503 0.00001
NM_017882.3(CLN6):c.180T>C (p.Phe60=) rs1183583039 0.00001
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys) rs1451777867 0.00001
NM_017882.3(CLN6):c.199-18C>A rs764354435 0.00001
NM_017882.3(CLN6):c.199-2A>G rs1471253353 0.00001
NM_017882.3(CLN6):c.199-4G>A rs767945732 0.00001
NM_017882.3(CLN6):c.199C>G (p.Leu67Val) rs759935979 0.00001
NM_017882.3(CLN6):c.205T>C (p.Phe69Leu) rs1418418672 0.00001
NM_017882.3(CLN6):c.221T>G (p.Phe74Cys) rs199658226 0.00001
NM_017882.3(CLN6):c.228C>T (p.Leu76=) rs1306692606 0.00001
NM_017882.3(CLN6):c.240T>C (p.Ser80=) rs1395492951 0.00001
NM_017882.3(CLN6):c.255C>G (p.Phe85Leu) rs545955828 0.00001
NM_017882.3(CLN6):c.285T>A (p.Phe95Leu) rs796052350 0.00001
NM_017882.3(CLN6):c.296A>G (p.Lys99Arg) rs146782642 0.00001
NM_017882.3(CLN6):c.301A>G (p.Ile101Val) rs774238261 0.00001
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys) rs796052352 0.00001
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp) rs201095412 0.00001
NM_017882.3(CLN6):c.311C>A (p.Ser104Tyr) rs777921628 0.00001
NM_017882.3(CLN6):c.317G>A (p.Arg106His) rs781133812 0.00001
NM_017882.3(CLN6):c.318C>T (p.Arg106=) rs2093206613 0.00001
NM_017882.3(CLN6):c.322C>G (p.Leu108Val) rs796052353 0.00001
NM_017882.3(CLN6):c.331T>C (p.Ser111Pro) rs1217014085 0.00001
NM_017882.3(CLN6):c.340T>C (p.Tyr114His) rs1211135399 0.00001
NM_017882.3(CLN6):c.345G>A (p.Val115=) rs2093206410 0.00001
NM_017882.3(CLN6):c.346A>G (p.Ser116Gly) rs2093206402 0.00001
NM_017882.3(CLN6):c.348C>T (p.Ser116=) rs1231500700 0.00001
NM_017882.3(CLN6):c.355A>G (p.Ile119Val) rs759241838 0.00001
NM_017882.3(CLN6):c.358T>A (p.Phe120Ile) rs1433821186 0.00001
NM_017882.3(CLN6):c.396T>C (p.Ser132=) rs949403836 0.00001
NM_017882.3(CLN6):c.407G>A (p.Arg136His) rs769701646 0.00001
NM_017882.3(CLN6):c.409C>T (p.Leu137=) rs982789458 0.00001
NM_017882.3(CLN6):c.486+1G>A rs756522171 0.00001
NM_017882.3(CLN6):c.487-14C>T rs371794062 0.00001
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys) rs750081097 0.00001
NM_017882.3(CLN6):c.516T>C (p.Tyr172=) rs547002745 0.00001
NM_017882.3(CLN6):c.51C>G (p.Gly17=) rs944411833 0.00001
NM_017882.3(CLN6):c.522G>A (p.Glu174=) rs753538013 0.00001
NM_017882.3(CLN6):c.543-10C>T rs767297743 0.00001
NM_017882.3(CLN6):c.543-9C>T rs374653673 0.00001
NM_017882.3(CLN6):c.547A>G (p.Ile183Val) rs766500060 0.00001
NM_017882.3(CLN6):c.549C>T (p.Ile183=) rs1384262878 0.00001
NM_017882.3(CLN6):c.558C>T (p.Phe186=) rs1305810285 0.00001
NM_017882.3(CLN6):c.581G>T (p.Ser194Ile) rs777142645 0.00001
NM_017882.3(CLN6):c.58C>T (p.Leu20=) rs886042533 0.00001
NM_017882.3(CLN6):c.593C>G (p.Thr198Ser) rs777459938 0.00001
NM_017882.3(CLN6):c.599C>G (p.Ser200Cys) rs796052357 0.00001
NM_017882.3(CLN6):c.60G>A (p.Leu20=) rs1287378775 0.00001
NM_017882.3(CLN6):c.61G>A (p.Gly21Ser) rs916017530 0.00001
NM_017882.3(CLN6):c.63C>T (p.Gly21=) rs796052348 0.00001
NM_017882.3(CLN6):c.663C>T (p.Tyr221=) rs104894486 0.00001
NM_017882.3(CLN6):c.666-14C>T rs764363598 0.00001
NM_017882.3(CLN6):c.666-5T>A rs1401270931 0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722 0.00001
NM_017882.3(CLN6):c.704T>A (p.Ile235Asn) rs1469917052 0.00001
NM_017882.3(CLN6):c.714C>T (p.Phe238=) rs772090270 0.00001
NM_017882.3(CLN6):c.718G>A (p.Ala240Thr) rs779105796 0.00001
NM_017882.3(CLN6):c.732C>T (p.Leu244=) rs540227628 0.00001
NM_017882.3(CLN6):c.748C>T (p.Arg250Cys) rs950362413 0.00001
NM_017882.3(CLN6):c.750C>T (p.Arg250=) rs537994561 0.00001
NM_017882.3(CLN6):c.757C>G (p.Leu253Val) rs1274562752 0.00001
NM_017882.3(CLN6):c.763C>T (p.Leu255=) rs1195840845 0.00001
NM_017882.3(CLN6):c.767A>G (p.Asp256Gly) rs143781303 0.00001
NM_017882.3(CLN6):c.768C>G (p.Asp256Glu) rs760271120 0.00001
NM_017882.3(CLN6):c.794C>T (p.Ser265Phe) rs771007065 0.00001
NM_017882.3(CLN6):c.801A>G (p.Ala267=) rs901756486 0.00001
NM_017882.3(CLN6):c.810C>G (p.Leu270=) rs183399390 0.00001
NM_017882.3(CLN6):c.83+10C>T rs1247368646 0.00001
NM_017882.3(CLN6):c.83+13C>T rs938706029 0.00001
NM_017882.3(CLN6):c.837G>A (p.Trp279Ter) rs1555438212 0.00001
NM_017882.3(CLN6):c.84-1G>A rs1064796787 0.00001
NM_017882.3(CLN6):c.850C>T (p.Pro284Ser) rs369715206 0.00001
NM_017882.3(CLN6):c.885C>T (p.Tyr295=) rs374990526 0.00001
NM_017882.3(CLN6):c.886G>A (p.Val296Ile) rs781449103 0.00001
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu) rs758921701 0.00001
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg) rs750937323 0.00001
NM_017882.3(CLN6):c.90C>T (p.Gly30=) rs1254460869 0.00001
NM_017882.3(CLN6):c.918C>T (p.His306=) rs1347398610 0.00001
NM_017882.3(CLN6):c.93T>C (p.Ser31=) rs376510900 0.00001
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.126C>T (p.Cys42=) rs192196274 0.00001
NM_018941.4(CLN8):c.140C>T (p.Ser47Phe) rs765158624 0.00001
NM_018941.4(CLN8):c.151G>A (p.Ala51Thr) rs777453297 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.186C>T (p.Val62=) rs1057522154 0.00001
NM_018941.4(CLN8):c.18T>C (p.Asp6=) rs1464108080 0.00001
NM_018941.4(CLN8):c.1A>G (p.Met1Val) rs143730802 0.00001
NM_018941.4(CLN8):c.209G>A (p.Arg70His) rs386834124 0.00001
NM_018941.4(CLN8):c.21G>C (p.Gly7=) rs751762914 0.00001
NM_018941.4(CLN8):c.256C>T (p.Leu86=) rs755248868 0.00001
NM_018941.4(CLN8):c.27A>C (p.Thr9=) rs750274455 0.00001
NM_018941.4(CLN8):c.283A>T (p.Lys95Ter) rs759830733 0.00001
NM_018941.4(CLN8):c.295C>T (p.Gln99Ter) rs750162094 0.00001
NM_018941.4(CLN8):c.29C>G (p.Ser10Ter) rs1454175058 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.324G>A (p.Thr108=) rs148124161 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.397T>C (p.Leu133=) rs1419342894 0.00001
NM_018941.4(CLN8):c.406G>T (p.Val136Phe) rs187297173 0.00001
NM_018941.4(CLN8):c.408T>A (p.Val136=) rs535963507 0.00001
NM_018941.4(CLN8):c.41T>C (p.Phe14Ser) rs957551479 0.00001
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys) rs386834130 0.00001
NM_018941.4(CLN8):c.488C>T (p.Thr163Met) rs781099399 0.00001
NM_018941.4(CLN8):c.543+9A>G rs982453047 0.00001
NM_018941.4(CLN8):c.555C>T (p.Ser185=) rs145929862 0.00001
NM_018941.4(CLN8):c.562C>T (p.Leu188=) rs587780318 0.00001
NM_018941.4(CLN8):c.609C>T (p.Cys203=) rs765382699 0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys) rs104894060 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.709G>A (p.Gly237Arg) rs746645358 0.00001
NM_018941.4(CLN8):c.716C>T (p.Ala239Val) rs913988013 0.00001
NM_018941.4(CLN8):c.720G>A (p.Leu240=) rs779630521 0.00001
NM_018941.4(CLN8):c.741A>G (p.Pro247=) rs1470652667 0.00001
NM_018941.4(CLN8):c.753T>C (p.His251=) rs1801680845 0.00001
NM_018941.4(CLN8):c.75C>T (p.Ser25=) rs1276904511 0.00001
NM_018941.4(CLN8):c.780G>A (p.Pro260=) rs761984333 0.00001
NM_018941.4(CLN8):c.78G>A (p.Thr26=) rs933753788 0.00001
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys) rs587779411 0.00001
NM_018941.4(CLN8):c.795C>T (p.Phe265=) rs760610632 0.00001
NM_018941.4(CLN8):c.804A>C (p.Pro268=) rs746305311 0.00001
NM_018941.4(CLN8):c.831C>T (p.Asn277=) rs200083273 0.00001
NM_018941.4(CLN8):c.832G>A (p.Gly278Arg) rs1358513612 0.00001
NM_018941.4(CLN8):c.843G>A (p.Leu281=) rs367703234 0.00001
NM_018941.4(CLN8):c.845G>A (p.Arg282Gln) rs766172825 0.00001
NM_018941.4(CLN8):c.846G>A (p.Arg282=) rs1801686237 0.00001
NM_018941.4(CLN8):c.849G>A (p.Lys283=) rs753758120 0.00001
NM_018941.4(CLN8):c.858A>G (p.Pro286=) rs764673534 0.00001
NM_018941.4(CLN8):c.87C>T (p.Val29=) rs753737213 0.00001
NM_018941.4(CLN8):c.90T>C (p.Ala30=) rs376382403 0.00001
NM_018941.4(CLN8):c.9T>C (p.Pro3=) rs773997032 0.00001
NM_022089.4(ATP13A2):c.1004C>T (p.Ala335Val) rs756767909 0.00001
NM_022089.4(ATP13A2):c.1017G>C (p.Met339Ile) rs1345269003 0.00001
NM_022089.4(ATP13A2):c.1102A>G (p.Thr368Ala) rs1236275703 0.00001
NM_022089.4(ATP13A2):c.1109G>A (p.Arg370Gln) rs369738172 0.00001
NM_022089.4(ATP13A2):c.111C>T (p.Leu37=) rs1331180219 0.00001
NM_022089.4(ATP13A2):c.1167G>A (p.Pro389=) rs776283025 0.00001
NM_022089.4(ATP13A2):c.1170C>T (p.His390=) rs201661480 0.00001
NM_022089.4(ATP13A2):c.1195+18G>C rs750278758 0.00001
NM_022089.4(ATP13A2):c.1233C>A (p.Ile411=) rs748487085 0.00001
NM_022089.4(ATP13A2):c.1234T>C (p.Leu412=) rs2077128030 0.00001
NM_022089.4(ATP13A2):c.1295T>C (p.Leu432Pro) rs778964823 0.00001
NM_022089.4(ATP13A2):c.1296C>T (p.Leu432=) rs1196631888 0.00001
NM_022089.4(ATP13A2):c.1307-13G>A rs754572673 0.00001
NM_022089.4(ATP13A2):c.1314C>A (p.Leu438=) rs764435162 0.00001
NM_022089.4(ATP13A2):c.1377C>T (p.Ile459=) rs1570823082 0.00001
NM_022089.4(ATP13A2):c.1384C>G (p.Leu462Val) rs773341880 0.00001
NM_022089.4(ATP13A2):c.1405G>A (p.Val469Met) rs1326057817 0.00001
NM_022089.4(ATP13A2):c.1437G>A (p.Val479=) rs367695021 0.00001
NM_022089.4(ATP13A2):c.1459C>T (p.Arg487Ter) rs1303653650 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.1543-15_1543-12del rs753702273 0.00001
NM_022089.4(ATP13A2):c.1544C>T (p.Thr515Met) rs984178348 0.00001
NM_022089.4(ATP13A2):c.1563C>T (p.Asp521=) rs777948791 0.00001
NM_022089.4(ATP13A2):c.1631G>A (p.Arg544His) rs1050384310 0.00001
NM_022089.4(ATP13A2):c.1663C>T (p.Leu555=) rs1208562568 0.00001
NM_022089.4(ATP13A2):c.1710C>T (p.Gly570=) rs1049938065 0.00001
NM_022089.4(ATP13A2):c.1744G>A (p.Gly582Ser) rs886045581 0.00001
NM_022089.4(ATP13A2):c.1750-3C>T rs780246274 0.00001
NM_022089.4(ATP13A2):c.1755G>A (p.Leu585=) rs200184146 0.00001
NM_022089.4(ATP13A2):c.1787G>C (p.Gly596Ala) rs975811918 0.00001
NM_022089.4(ATP13A2):c.1845+15G>A rs750975658 0.00001
NM_022089.4(ATP13A2):c.1845+1G>A rs2076970587 0.00001
NM_022089.4(ATP13A2):c.1856C>T (p.Pro619Leu) rs746563424 0.00001
NM_022089.4(ATP13A2):c.1857G>A (p.Pro619=) rs1187762774 0.00001
NM_022089.4(ATP13A2):c.1864G>T (p.Val622Phe) rs779367060 0.00001
NM_022089.4(ATP13A2):c.1869C>T (p.Ser623=) rs757800272 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.2013C>T (p.Thr671=) rs1176219513 0.00001
NM_022089.4(ATP13A2):c.2015A>G (p.Asp672Gly) rs981910553 0.00001
NM_022089.4(ATP13A2):c.2049T>C (p.Ala683=) rs769153783 0.00001
NM_022089.4(ATP13A2):c.2061C>T (p.Val687=) rs370622481 0.00001
NM_022089.4(ATP13A2):c.2083C>T (p.Leu695=) rs757300078 0.00001
NM_022089.4(ATP13A2):c.208C>T (p.Leu70=) rs757911860 0.00001
NM_022089.4(ATP13A2):c.2116C>T (p.Gln706Ter) rs2076949269 0.00001
NM_022089.4(ATP13A2):c.2119C>T (p.Leu707=) rs762570626 0.00001
NM_022089.4(ATP13A2):c.2133T>C (p.Thr711=) rs751346349 0.00001
NM_022089.4(ATP13A2):c.2158G>T (p.Gly720Trp) rs865939676 0.00001
NM_022089.4(ATP13A2):c.2199G>A (p.Thr733=) rs1269645931 0.00001
NM_022089.4(ATP13A2):c.219G>A (p.Val73=) rs1469953920 0.00001
NM_022089.4(ATP13A2):c.2221A>C (p.Arg741=) rs754926284 0.00001
NM_022089.4(ATP13A2):c.2252-11A>G rs775547036 0.00001
NM_022089.4(ATP13A2):c.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.2340C>T (p.His780=) rs769392537 0.00001
NM_022089.4(ATP13A2):c.2381T>C (p.Met794Thr) rs151222153 0.00001
NM_022089.4(ATP13A2):c.2397C>T (p.Ala799=) rs772920644 0.00001
NM_022089.4(ATP13A2):c.2422C>G (p.Gln808Glu) rs774997717 0.00001
NM_022089.4(ATP13A2):c.2455C>T (p.Arg819Ter) rs866035312 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.24C>T (p.Leu8=) rs1460426486 0.00001
NM_022089.4(ATP13A2):c.2525C>G (p.Pro842Arg) rs917176878 0.00001
NM_022089.4(ATP13A2):c.2529+1G>A rs776448394 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.2628C>T (p.Cys876=) rs561561604 0.00001
NM_022089.4(ATP13A2):c.2635G>A (p.Gly879Ser) rs771014262 0.00001
NM_022089.4(ATP13A2):c.264C>T (p.Leu88=) rs554781874 0.00001
NM_022089.4(ATP13A2):c.2673C>T (p.Val891=) rs764639673 0.00001
NM_022089.4(ATP13A2):c.2820C>T (p.Tyr940=) rs765560804 0.00001
NM_022089.4(ATP13A2):c.2859+5G>C rs1164759435 0.00001
NM_022089.4(ATP13A2):c.2867C>T (p.Thr956Ile) rs752784549 0.00001
NM_022089.4(ATP13A2):c.288+16A>T rs1385104135 0.00001
NM_022089.4(ATP13A2):c.2905G>A (p.Val969Ile) rs769445714 0.00001
NM_022089.4(ATP13A2):c.2919A>G (p.Thr973=) rs149403933 0.00001
NM_022089.4(ATP13A2):c.2939G>A (p.Arg980His) rs150748722 0.00001
NM_022089.4(ATP13A2):c.2943G>A (p.Thr981=) rs746372968 0.00001
NM_022089.4(ATP13A2):c.2995G>A (p.Val999Met) rs764162255 0.00001
NM_022089.4(ATP13A2):c.3000C>T (p.Pro1000=) rs1260261642 0.00001
NM_022089.4(ATP13A2):c.3081A>G (p.Pro1027=) rs374690625 0.00001
NM_022089.4(ATP13A2):c.3145G>A (p.Val1049Met) rs750963832 0.00001
NM_022089.4(ATP13A2):c.3164G>C (p.Ser1055Thr) rs1046254851 0.00001
NM_022089.4(ATP13A2):c.3174C>T (p.Tyr1058=) rs777045615 0.00001
NM_022089.4(ATP13A2):c.3175C>T (p.Leu1059Phe) rs764410859 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.39C>T (p.Pro13=) rs752127537 0.00001
NM_022089.4(ATP13A2):c.423C>T (p.Ala141=) rs1258288001 0.00001
NM_022089.4(ATP13A2):c.429G>A (p.Lys143=) rs1391689725 0.00001
NM_022089.4(ATP13A2):c.435G>A (p.Thr145=) rs201154350 0.00001
NM_022089.4(ATP13A2):c.464T>G (p.Val155Gly) rs1333931944 0.00001
NM_022089.4(ATP13A2):c.471C>T (p.Val157=) rs762608323 0.00001
NM_022089.4(ATP13A2):c.509G>T (p.Gly170Val) rs1369312171 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.635+19C>T rs746266493 0.00001
NM_022089.4(ATP13A2):c.636-7C>T rs762753391 0.00001
NM_022089.4(ATP13A2):c.648C>T (p.Tyr216=) rs769405638 0.00001
NM_022089.4(ATP13A2):c.668T>C (p.Ile223Thr) rs771489150 0.00001
NM_022089.4(ATP13A2):c.69A>G (p.Thr23=) rs1196381069 0.00001
NM_022089.4(ATP13A2):c.706-4C>A rs2077315863 0.00001
NM_022089.4(ATP13A2):c.723T>C (p.Tyr241=) rs1373279122 0.00001
NM_022089.4(ATP13A2):c.769T>C (p.Tyr257His) rs370403918 0.00001
NM_022089.4(ATP13A2):c.786C>T (p.Cys262=) rs1237741171 0.00001
NM_022089.4(ATP13A2):c.816C>G (p.Cys272Trp) rs755969305 0.00001
NM_022089.4(ATP13A2):c.846C>T (p.Ser282=) rs762440899 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.126T>C (p.Tyr42=) rs775734607 0.00001
NM_025219.3(DNAJC5):c.159C>T (p.Ala53=) rs779503067 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.192C>T (p.His64=) rs1351269667 0.00001
NM_025219.3(DNAJC5):c.203C>T (p.Thr68Met) rs1382120578 0.00001
NM_025219.3(DNAJC5):c.207C>T (p.Asp69=) rs760881795 0.00001
NM_025219.3(DNAJC5):c.208G>A (p.Ala70Thr) rs769269113 0.00001
NM_025219.3(DNAJC5):c.225C>T (p.Ile75=) rs376163421 0.00001
NM_025219.3(DNAJC5):c.25C>T (p.Leu9=) rs1184661048 0.00001
NM_025219.3(DNAJC5):c.297C>T (p.Phe99=) rs776598152 0.00001
NM_025219.3(DNAJC5):c.306C>T (p.Ser102=) rs770247745 0.00001
NM_025219.3(DNAJC5):c.31A>G (p.Thr11Ala) rs796052408 0.00001
NM_025219.3(DNAJC5):c.321+14G>A rs367766641 0.00001
NM_025219.3(DNAJC5):c.321+8C>T rs773607766 0.00001
NM_025219.3(DNAJC5):c.321+9G>A rs763367010 0.00001
NM_025219.3(DNAJC5):c.322-7C>T rs765086324 0.00001
NM_025219.3(DNAJC5):c.339C>T (p.Cys113=) rs886043295 0.00001
NM_025219.3(DNAJC5):c.351G>A (p.Thr117=) rs775067598 0.00001
NM_025219.3(DNAJC5):c.370T>G (p.Cys124Gly) rs373850027 0.00001
NM_025219.3(DNAJC5):c.429C>T (p.Gly143=) rs753956759 0.00001
NM_025219.3(DNAJC5):c.46T>C (p.Leu16=) rs371819808 0.00001
NM_025219.3(DNAJC5):c.480G>A (p.Gln160=) rs1358914493 0.00001
NM_025219.3(DNAJC5):c.493+10C>T rs751404516 0.00001
NM_025219.3(DNAJC5):c.493+11G>A rs760774827 0.00001
NM_025219.3(DNAJC5):c.494-17G>A rs1433329405 0.00001
NM_025219.3(DNAJC5):c.494-18T>C rs755327268 0.00001
NM_025219.3(DNAJC5):c.507G>A (p.Thr169=) rs748875387 0.00001
NM_025219.3(DNAJC5):c.555A>G (p.Thr185=) rs1437414625 0.00001
NM_025219.3(DNAJC5):c.55G>A (p.Val19Ile) rs981499477 0.00001
NM_025219.3(DNAJC5):c.561C>T (p.Asp187=) rs776807695 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.60T>C (p.Leu20=) rs745419250 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
NC_000001.10:g.(?_17312716)_(17338233_?)dup
NC_000001.10:g.(?_17316166)_(17332293_?)del
NC_000001.10:g.(?_17316166)_(17338233_?)dup
NC_000001.10:g.(?_17330807)_(17332293_?)del
NC_000001.11:g.(?_16991714)_(16992601_?)del
NC_000002.11:g.(?_219646906)_(219647180_?)del
NC_000002.11:g.(?_219646906)_(219738567_?)del
NC_000002.11:g.(?_219674280)_(219679753_?)del
NC_000002.11:g.(?_219679083)_(219679753_?)del
NC_000002.11:g.(?_219679093)_(219679763_?)del
NC_000002.12:g.(?_218809567)_(218809777_?)del
NC_000002.12:g.218812223dup
NC_000005.10:g.(?_74685241)_(74697126_?)del
NC_000005.10:g.(?_74685251)_(74697116_?)del
NC_000005.10:g.(?_74685261)_(74697106_?)del
NC_000005.9:g.(?_73978914)_(73981242_?)del
NC_000005.9:g.(?_73980960)_(74041702_?)del
NC_000005.9:g.(?_73980960)_(75008762_?)dup
NC_000005.9:g.(?_73981066)_(74017020_?)del
NC_000005.9:g.(?_73981076)_(73981394_?)del
NC_000005.9:g.(?_73985143)_(74014806_?)del
NC_000005.9:g.(?_73992508)_(73992941_?)dup
NC_000005.9:g.(?_74011325)_(74017010_?)del
NC_000008.10:g.(?_1719201)_(1728753_?)dup
NC_000008.10:g.(?_1719221)_(1728733_?)dup
NC_000008.10:g.(?_1719221)_(1905429_?)del
NC_000008.11:g.(?_1771035)_(1780587_?)del
NC_000008.11:g.(?_1771045)_(1780577_?)del
NC_000011.9:g.(?_1774733)_(1778806_?)del
NC_000011.9:g.(?_1774733)_(1778806_?)dup
NC_000011.9:g.(?_1774733)_(1785089_?)del
NC_000011.9:g.(?_1774733)_(1785089_?)dup
NC_000011.9:g.(?_1774733)_(2019125_?)dup
NC_000011.9:g.(?_1785002)_(1785089_?)del
NC_000011.9:g.(?_532616)_(2906985_?)dup
NC_000011.9:g.(?_5709028)_(6640651_?)dup
NC_000013.10:g.(?_77566087)_(77575104_?)dup
NC_000013.10:g.(?_77566087)_(78492734_?)del
NC_000013.11:g.(?_76991932)_(77000989_?)del
NC_000013.11:g.(?_76991932)_(77000989_?)dup
NC_000013.11:g.(?_76995053)_(76995238_?)dup
NC_000013.11:g.(?_76995053)_(76996137_?)del
NC_000013.11:g.76991960G>A rs1389856811
NC_000013.11:g.76991966G>A rs949252072
NC_000013.11:g.76991969C>G rs1439964955
NC_000013.11:g.76991974G>C rs1037355085
NC_000013.11:g.76991982T>C rs755587208
NC_000013.11:g.76991986G>A rs1465531119
NC_000013.11:g.76991993C>T rs1259746826
NC_000013.11:g.76992014G>C rs1231942714
NC_000013.11:g.76992020C>T rs1408667627
NC_000013.11:g.76992023A>C rs7987664
NC_000013.11:g.76992025T>A rs1182554801
NC_000013.11:g.76992026G>T rs2154034204
NC_000013.11:g.76992027G>C rs2154034205
NC_000013.11:g.76992029G>C rs2154034206
NC_000013.11:g.76992036C>T rs2154034208
NC_000013.11:g.76992041G>A rs2154034210
NC_000013.11:g.76992041_76992352del rs2154034211
NC_000013.11:g.76992050A>C rs1447037153
NC_000013.11:g.76992056G>A rs2154034220
NC_000013.11:g.76992059G>T rs1413474600
NC_000013.11:g.76992063G>A rs1351624850
NC_000013.11:g.76992065C>G rs2154034221
NC_000013.11:g.76992066T>A rs1223625391
NC_000013.11:g.76992066T>G rs1223625391
NC_000013.11:g.76992067C>T rs61504484
NC_000013.11:g.76992068G>T rs779934262
NC_000015.10:g.(?_68208120)_(68229604_?)del
NC_000015.10:g.(?_68229482)_(68229604_?)del
NC_000015.10:g.(?_68229492)_(68229594_?)del
NC_000015.10:g.(?_72345446)_(72346710_?)del
NC_000015.10:g.(?_72350508)_(72351244_?)del
NC_000015.10:g.(?_72374460)_(72375992_?)del
NC_000015.9:g.(?_66161924)_(69018313_?)dup
NC_000015.9:g.(?_68499209)_(68500605_?)del
NC_000015.9:g.(?_68500458)_(68504221_?)del
NC_000015.9:g.(?_68500468)_(68504211_?)del
NC_000015.9:g.(?_68500478)_(68521922_?)dup
NC_000015.9:g.(?_72103084)_(74244178_?)del
NC_000015.9:g.(?_72636408)_(72636491_?)del
NC_000015.9:g.(?_72636418)_(73660611_?)dup
NC_000015.9:g.(?_72637535)_(72639061_?)del
NC_000015.9:g.(?_72637767)_(72639071_?)del
NC_000015.9:g.(?_72638556)_(72639071_?)del
NC_000015.9:g.(?_72638867)_(72641658_?)del
NC_000015.9:g.(?_72640007)_(72641620_?)dup
NC_000015.9:g.(?_72640007)_(72643595_?)dup
NC_000015.9:g.(?_72646063)_(72653091_?)del
NC_000015.9:g.(?_72662933)_72670877del
NC_000015.9:g.(?_72666113)_(72666961_?)del
NC_000015.9:g.68504037_68504039delGAT rs121908080
NC_000016.10:g.(?_28475343)_(28477877_?)dup
NC_000016.10:g.(?_28475343)_(28484138_?)del
NC_000016.10:g.(?_28475343)_(28486650_?)del
NC_000016.10:g.(?_28477496)_(28491779_?)del
NC_000016.10:g.(?_28483996)_(28484128_?)del
NC_000016.10:g.(?_28485965)_(28486930_?)del
NC_000016.10:g.(?_28486327)_(28486670_?)del
NC_000016.10:g.(?_28486347)_(28486650_?)del
NC_000016.10:g.(?_28487456)_(28595930_?)del
NC_000016.9:g.(?_27441393)_(29001333_?)del
NC_000016.9:g.(?_28484798)_28497560del
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.(?_28488827)_(28489208_?)del
NC_000016.9:g.(?_28488827)_(28950294_?)del
NC_000016.9:g.(?_28488837)_(28489218_?)dup
NC_000016.9:g.(?_28488837)_(28495459_?)del
NC_000016.9:g.(?_28488837)_(28495459_?)dup
NC_000016.9:g.(?_28493416)_(28494003_?)del
NC_000016.9:g.(?_28493426)_(28493993_?)del
NC_000016.9:g.(?_28495307)_(28495459_?)del
NC_000016.9:g.(?_28495317)_(28500717_?)del
NC_000016.9:g.(?_28499892)_(28503100_?)dup
NC_000016.9:g.(?_28499902)_(28503090_?)dup
NC_000016.9:g.(?_28502803)_(28503080_?)del
NC_000017.10:g.(?_42426434)_(42430018_?)del
NC_000017.11:g.(?_44027807)_(44352876_?)dup
NC_000020.10:g.(?_62542275)_(62559715_?)del
NC_000020.10:g.(?_62559679)_(62562941_?)dup
NC_000020.10:g.(?_62559688)_(62567384_?)dup
NC_000020.11:g.(?_63928326)_(63931588_?)del
NM_000391.4(TPP1):c.763G>C (p.Ala255Pro) rs1356628460
NM_000520.6(HEXA):c.-7_1del (p.Met1fs) rs759154405
NM_000520.6(HEXA):c.1009G>A (p.Asp337Asn)
NM_000520.6(HEXA):c.100G>A (p.Asp34Asn)
NM_000520.6(HEXA):c.1014del (p.Phe338fs)
NM_000520.6(HEXA):c.1019G>A (p.Arg340Lys)
NM_000520.6(HEXA):c.1022A>G (p.Lys341Arg) rs1417593132
NM_000520.6(HEXA):c.1023G>A (p.Lys341=)
NM_000520.6(HEXA):c.1026A>G (p.Lys342=) rs1595798386
NM_000520.6(HEXA):c.1028G>T (p.Gly343Val) rs191330716
NM_000520.6(HEXA):c.1031T>C (p.Phe344Ser)
NM_000520.6(HEXA):c.1039G>T (p.Asp347Tyr) rs745555933
NM_000520.6(HEXA):c.1042T>G (p.Phe348Val)
NM_000520.6(HEXA):c.1043_1046del (p.Phe348fs) rs1057516755
NM_000520.6(HEXA):c.104A>C (p.Gln35Pro)
NM_000520.6(HEXA):c.1053_1054delinsTCCAGCTTGA (p.Glu352delinsProAlaTer)
NM_000520.6(HEXA):c.1058C>T (p.Ser353Phe) rs2140322145
NM_000520.6(HEXA):c.1059C>T (p.Ser353=) rs1264309804
NM_000520.6(HEXA):c.1065C>T (p.Tyr355=) rs2140322139
NM_000520.6(HEXA):c.1069C>T (p.Gln357Ter)
NM_000520.6(HEXA):c.106C>T (p.Arg36Cys) rs2089059184
NM_000520.6(HEXA):c.1073+10G>A rs1458405375
NM_000520.6(HEXA):c.1073+10G>T
NM_000520.6(HEXA):c.1073+17G>A rs1277432109
NM_000520.6(HEXA):c.1073+1G>C rs76173977
NM_000520.6(HEXA):c.1074-12TCTCC[3] rs759219683
NM_000520.6(HEXA):c.1074-16C>A
NM_000520.6(HEXA):c.1074-16C>T
NM_000520.6(HEXA):c.1074-17A>G
NM_000520.6(HEXA):c.1074-19A>G
NM_000520.6(HEXA):c.1074-20G>A
NM_000520.6(HEXA):c.1074-7T>C rs2140321912
NM_000520.6(HEXA):c.1074-7_1074-3del rs759219683
NM_000520.6(HEXA):c.1074-8C>T rs2140321914
NM_000520.6(HEXA):c.1074G>C (p.Thr358=) rs1330754060
NM_000520.6(HEXA):c.107G>C (p.Arg36Pro)
NM_000520.6(HEXA):c.107dup (p.Tyr37fs)
NM_000520.6(HEXA):c.1080G>A (p.Leu360=) rs1344084494
NM_000520.6(HEXA):c.1086C>A (p.Ile362=) rs749828204
NM_000520.6(HEXA):c.1087G>A (p.Val363Ile) rs557550173
NM_000520.6(HEXA):c.1087G>T (p.Val363Phe)
NM_000520.6(HEXA):c.1087_1088delinsTA (p.Val363Tyr) rs2088636561
NM_000520.6(HEXA):c.1088T>A (p.Val363Asp)
NM_000520.6(HEXA):c.1088dup (p.Ser364fs)
NM_000520.6(HEXA):c.1091C>G (p.Ser364Cys)
NM_000520.6(HEXA):c.1091CTT[1] (p.Ser365del)
NM_000520.6(HEXA):c.1092_1093del (p.Ser365fs)
NM_000520.6(HEXA):c.1098T>A (p.Tyr366Ter) rs979690054
NM_000520.6(HEXA):c.1098T>C (p.Tyr366=) rs979690054
NM_000520.6(HEXA):c.1098T>G (p.Tyr366Ter) rs979690054
NM_000520.6(HEXA):c.1099G>A (p.Gly367Ser) rs2140321869
NM_000520.6(HEXA):c.10_12dup (p.Ser4_Arg5insSer)
NM_000520.6(HEXA):c.1101C>G (p.Gly367=)
NM_000520.6(HEXA):c.1108T>A (p.Tyr370Asn)
NM_000520.6(HEXA):c.1109A>G (p.Tyr370Cys)
NM_000520.6(HEXA):c.110A>G (p.Tyr37Cys) rs2140344677
NM_000520.6(HEXA):c.1110T>C (p.Tyr370=) rs2140321848
NM_000520.6(HEXA):c.1114G>A (p.Val372Met) rs759434633
NM_000520.6(HEXA):c.1114G>T (p.Val372Leu)
NM_000520.6(HEXA):c.1114del (p.Val372fs) rs2140321846
NM_000520.6(HEXA):c.1122G>A (p.Gln374=)
NM_000520.6(HEXA):c.1123del (p.Glu375fs) rs766138785
NM_000520.6(HEXA):c.1135A>G (p.Asn379Asp)
NM_000520.6(HEXA):c.1136A>G (p.Asn379Ser)
NM_000520.6(HEXA):c.1137T>C (p.Asn379=) rs2140321800
NM_000520.6(HEXA):c.1140del (p.Lys380_Val381insTer) rs1555472553
NM_000520.6(HEXA):c.1142T>A (p.Val381Glu)
NM_000520.6(HEXA):c.1142_1146del (p.Val381fs) rs1595798033
NM_000520.6(HEXA):c.1143A>G (p.Val381=) rs781712951
NM_000520.6(HEXA):c.1145A>C (p.Lys382Thr) rs960869164
NM_000520.6(HEXA):c.1146+11G>A
NM_000520.6(HEXA):c.1146+17A>G rs2140321766
NM_000520.6(HEXA):c.1146+18A>G rs1555472543
NM_000520.6(HEXA):c.1146+7C>G
NM_000520.6(HEXA):c.1146+7C>T rs1445671872
NM_000520.6(HEXA):c.1146+8G>T
NM_000520.6(HEXA):c.1147-13C>T
NM_000520.6(HEXA):c.1147-14A>G
NM_000520.6(HEXA):c.1147-3C>T
NM_000520.6(HEXA):c.1147-6T>C
NM_000520.6(HEXA):c.1147-7A>G rs1476782915
NM_000520.6(HEXA):c.1147-8T>G
NM_000520.6(HEXA):c.1147-9_1147-6del rs2140320865
NM_000520.6(HEXA):c.1152G>C (p.Gln384His)
NM_000520.6(HEXA):c.1154C>T (p.Pro385Leu)
NM_000520.6(HEXA):c.1160C>T (p.Thr387Ile)
NM_000520.6(HEXA):c.1160_1161del (p.Thr387fs)
NM_000520.6(HEXA):c.1161A>T (p.Thr387=) rs1244956386
NM_000520.6(HEXA):c.1164C>T (p.Ile388=)
NM_000520.6(HEXA):c.1165A>G (p.Ile389Val)
NM_000520.6(HEXA):c.1166T>C (p.Ile389Thr)
NM_000520.6(HEXA):c.1168C>G (p.Gln390Glu) rs988192535
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter) rs988192535
NM_000520.6(HEXA):c.1171G>A (p.Val391Met) rs2140320821
NM_000520.6(HEXA):c.1173G>T (p.Val391=) rs575836910
NM_000520.6(HEXA):c.1176G>A (p.Trp392Ter) rs267606862
NM_000520.6(HEXA):c.117T>G (p.Leu39=)
NM_000520.6(HEXA):c.1182G>A (p.Glu394=)
NM_000520.6(HEXA):c.1183del (p.Asp395fs) rs770303210
NM_000520.6(HEXA):c.1188T>A (p.Ile396=)
NM_000520.6(HEXA):c.1189C>A (p.Pro397Thr)
NM_000520.6(HEXA):c.1189C>T (p.Pro397Ser) rs778878211
NM_000520.6(HEXA):c.118del (p.Tyr40fs) rs2140344667
NM_000520.6(HEXA):c.1191A>G (p.Pro397=) rs2140320794
NM_000520.6(HEXA):c.1194G>C (p.Val398=) rs2140320785
NM_000520.6(HEXA):c.1194G>T (p.Val398=) rs2140320785
NM_000520.6(HEXA):c.1196A>G (p.Asn399Ser)
NM_000520.6(HEXA):c.1196A>T (p.Asn399Ile) rs755973971
NM_000520.6(HEXA):c.1198T>C (p.Tyr400His)
NM_000520.6(HEXA):c.1204_1206del (p.Lys402del) rs1467732394
NM_000520.6(HEXA):c.1209G>T (p.Glu403Asp)
NM_000520.6(HEXA):c.1217_1220delinsA (p.Leu406_Val407delinsHis) rs1177678117
NM_000520.6(HEXA):c.121C>T (p.Pro41Ser)
NM_000520.6(HEXA):c.1220del (p.Val407fs) rs2140320741
NM_000520.6(HEXA):c.1226A>G (p.Lys409Arg)
NM_000520.6(HEXA):c.1230C>A (p.Ala410=)
NM_000520.6(HEXA):c.1233C>G (p.Gly411=) rs2140320715
NM_000520.6(HEXA):c.1238G>A (p.Arg413Gln)
NM_000520.6(HEXA):c.1238G>C (p.Arg413Pro) rs766988109
NM_000520.6(HEXA):c.1239G>A (p.Arg413=) rs2140320704
NM_000520.6(HEXA):c.1239G>T (p.Arg413=) rs2140320704
NM_000520.6(HEXA):c.123G>T (p.Pro41=) rs769075910
NM_000520.6(HEXA):c.1242C>T (p.Ala414=)
NM_000520.6(HEXA):c.1245T>C (p.Leu415=)
NM_000520.6(HEXA):c.1250C>G (p.Ser417Cys)
NM_000520.6(HEXA):c.1250_1251del (p.Ser417fs)
NM_000520.6(HEXA):c.1251T>G (p.Ser417=)
NM_000520.6(HEXA):c.1252G>T (p.Ala418Ser)
NM_000520.6(HEXA):c.1253C>A (p.Ala418Asp)
NM_000520.6(HEXA):c.1253C>G (p.Ala418Gly)
NM_000520.6(HEXA):c.1257C>T (p.Pro419=) rs1595797185
NM_000520.6(HEXA):c.1257dup (p.Trp420fs)
NM_000520.6(HEXA):c.1258del (p.Trp420fs) rs1216659000
NM_000520.6(HEXA):c.1263C>T (p.Tyr421=) rs2140320674
NM_000520.6(HEXA):c.1270C>T (p.Arg424Cys)
NM_000520.6(HEXA):c.1272T>C (p.Arg424=) rs1020151571
NM_000520.6(HEXA):c.1273A>G (p.Ile425Val) rs2088617363
NM_000520.6(HEXA):c.1276T>G (p.Ser426Ala)
NM_000520.6(HEXA):c.1277C>T (p.Ser426Phe) rs2140320645
NM_000520.6(HEXA):c.1278C>T (p.Ser426=)
NM_000520.6(HEXA):c.127A>G (p.Asn43Asp) rs1567308297
NM_000520.6(HEXA):c.1283G>A (p.Gly428Asp) rs2140320638
NM_000520.6(HEXA):c.1285C>T (p.Pro429Ser) rs2140320635
NM_000520.6(HEXA):c.1287T>C (p.Pro429=) rs1159406854
NM_000520.6(HEXA):c.1288G>A (p.Asp430Asn)
NM_000520.6(HEXA):c.1293G>A (p.Trp431Ter)
NM_000520.6(HEXA):c.1296G>A (p.Lys432=)
NM_000520.6(HEXA):c.12C>T (p.Ser4=) rs774967373
NM_000520.6(HEXA):c.1305_1306inv (p.Ile436Val)
NM_000520.6(HEXA):c.1306A>T (p.Ile436Leu) rs1800431
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs) rs777042785
NM_000520.6(HEXA):c.1311G>A (p.Val437=) rs2140320599
NM_000520.6(HEXA):c.1315C>A (p.Pro439Thr) rs2140320594
NM_000520.6(HEXA):c.1317C>G (p.Pro439=) rs1003506073
NM_000520.6(HEXA):c.1317C>T (p.Pro439=) rs1003506073
NM_000520.6(HEXA):c.1321G>A (p.Ala441Thr) rs2140320582
NM_000520.6(HEXA):c.1322C>G (p.Ala441Gly) rs2140320579
NM_000520.6(HEXA):c.1330+12G>C
NM_000520.6(HEXA):c.1330+15C>T
NM_000520.6(HEXA):c.1330+19C>T
NM_000520.6(HEXA):c.1330+1G>A rs767041069
NM_000520.6(HEXA):c.1330+2T>C rs2140320568
NM_000520.6(HEXA):c.1330+4A>T
NM_000520.6(HEXA):c.1331-13T>C
NM_000520.6(HEXA):c.1331-16G>T
NM_000520.6(HEXA):c.1331-18T>C
NM_000520.6(HEXA):c.1331-19G>C
NM_000520.6(HEXA):c.1331-19G>T
NM_000520.6(HEXA):c.1331-4T>C
NM_000520.6(HEXA):c.1331-5C>G
NM_000520.6(HEXA):c.1331-5C>T
NM_000520.6(HEXA):c.1331-7C>G
NM_000520.6(HEXA):c.1331-7C>T
NM_000520.6(HEXA):c.1331G>A (p.Gly444Asp)
NM_000520.6(HEXA):c.1335C>A (p.Thr445=)
NM_000520.6(HEXA):c.1335C>T (p.Thr445=) rs1365983427
NM_000520.6(HEXA):c.1336C>T (p.Pro446Ser)
NM_000520.6(HEXA):c.1337C>T (p.Pro446Leu)
NM_000520.6(HEXA):c.1338T>A (p.Pro446=) rs34085965
NM_000520.6(HEXA):c.1338del (p.Glu447fs)
NM_000520.6(HEXA):c.1339G>A (p.Glu447Lys)
NM_000520.6(HEXA):c.1344G>A (p.Gln448=) rs2140320361
NM_000520.6(HEXA):c.1346A>G (p.Lys449Arg)
NM_000520.6(HEXA):c.1347G>A (p.Lys449=)
NM_000520.6(HEXA):c.1356G>A (p.Val452=)
NM_000520.6(HEXA):c.135A>G (p.Gln45=)
NM_000520.6(HEXA):c.1360G>A (p.Gly454Ser) rs121907978
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp) rs1229811721
NM_000520.6(HEXA):c.1362T>C (p.Gly454=)
NM_000520.6(HEXA):c.1363G>A (p.Gly455Arg)
NM_000520.6(HEXA):c.1364del (p.Gly455fs)
NM_000520.6(HEXA):c.1367A>C (p.Glu456Ala) rs1567295650
NM_000520.6(HEXA):c.1367A>G (p.Glu456Gly)
NM_000520.6(HEXA):c.1368G>A (p.Glu456=) rs2140320322
NM_000520.6(HEXA):c.1368G>C (p.Glu456Asp) rs2140320322
NM_000520.6(HEXA):c.136T>C (p.Phe46Leu) rs1287127671
NM_000520.6(HEXA):c.1371T>A (p.Ala457=) rs2140320317
NM_000520.6(HEXA):c.1371T>G (p.Ala457=)
NM_000520.6(HEXA):c.1374T>C (p.Cys458=) rs764396757
NM_000520.6(HEXA):c.1377G>A (p.Met459Ile)
NM_000520.6(HEXA):c.1382G>T (p.Gly461Val)
NM_000520.6(HEXA):c.1389T>A (p.Tyr463Ter)
NM_000520.6(HEXA):c.1389T>C (p.Tyr463=) rs1239101618
NM_000520.6(HEXA):c.1399A>G (p.Thr467Ala)
NM_000520.6(HEXA):c.13A>C (p.Arg5=) rs1595816387
NM_000520.6(HEXA):c.13A>G (p.Arg5Gly)
NM_000520.6(HEXA):c.1400C>T (p.Thr467Ile) rs746828145
NM_000520.6(HEXA):c.1405C>T (p.Leu469=) rs777731446
NM_000520.6(HEXA):c.1407G>C (p.Leu469=)
NM_000520.6(HEXA):c.1407G>T (p.Leu469=) rs2140320253
NM_000520.6(HEXA):c.1410C>G (p.Val470=) rs771951380
NM_000520.6(HEXA):c.1416G>A (p.Arg472=) rs369117208
NM_000520.6(HEXA):c.1419_1420del (p.Trp474fs) rs987921756
NM_000520.6(HEXA):c.141G>C (p.Gln47His)
NM_000520.6(HEXA):c.1421+12C>G
NM_000520.6(HEXA):c.1421+13G>C rs375201437
NM_000520.6(HEXA):c.1421+13dup rs780193130
NM_000520.6(HEXA):c.1421+14G>A rs201497629
NM_000520.6(HEXA):c.1421+14G>T rs201497629
NM_000520.6(HEXA):c.1421+15G>A rs185764548
NM_000520.6(HEXA):c.1421+15G>C rs185764548
NM_000520.6(HEXA):c.1421+15G>T rs185764548
NM_000520.6(HEXA):c.1421+16G>C
NM_000520.6(HEXA):c.1421+19G>A
NM_000520.6(HEXA):c.1421+19G>C
NM_000520.6(HEXA):c.1421+19G>T
NM_000520.6(HEXA):c.1421+19del
NM_000520.6(HEXA):c.1421+1G>T rs147324677
NM_000520.6(HEXA):c.1421+3A>T
NM_000520.6(HEXA):c.1421+6G>C
NM_000520.6(HEXA):c.1421+7G>T
NM_000520.6(HEXA):c.1421+7del rs747378954
NM_000520.6(HEXA):c.1421+9T>C rs2140320220
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter) rs762374961
NM_000520.6(HEXA):c.1422-13C>T rs1366173591
NM_000520.6(HEXA):c.1422-14C>T
NM_000520.6(HEXA):c.1422-18A>G
NM_000520.6(HEXA):c.1422-1G>T rs1555472296
NM_000520.6(HEXA):c.1422-2A>G
NM_000520.6(HEXA):c.1422-6C>T
NM_000520.6(HEXA):c.1422-8T>C rs2140319698
NM_000520.6(HEXA):c.1422-9T>A rs2140319704
NM_000520.6(HEXA):c.1424C>G (p.Pro475Arg) rs758829206
NM_000520.6(HEXA):c.1425C>T (p.Pro475=) rs2140319679
NM_000520.6(HEXA):c.1431A>G (p.Ala477=) rs2140319674
NM_000520.6(HEXA):c.1435G>C (p.Ala479Pro)
NM_000520.6(HEXA):c.1435del (p.Ala479fs) rs2088601317
NM_000520.6(HEXA):c.1437T>C (p.Ala479=) rs2140319660
NM_000520.6(HEXA):c.1439T>C (p.Val480Ala)
NM_000520.6(HEXA):c.144C>G (p.Tyr48Ter) rs2140344619
NM_000520.6(HEXA):c.144C>T (p.Tyr48=) rs2140344619
NM_000520.6(HEXA):c.1452G>A (p.Leu484=)
NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg) rs121907968
NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter) rs1057519468
NM_000520.6(HEXA):c.1455G>A (p.Trp485Ter) rs2140319619
NM_000520.6(HEXA):c.1457G>A (p.Ser486Asn) rs1408716264
NM_000520.6(HEXA):c.1467G>C (p.Leu489Phe)
NM_000520.6(HEXA):c.1469C>T (p.Thr490Ile)
NM_000520.6(HEXA):c.1470A>G (p.Thr490=)
NM_000520.6(HEXA):c.1473T>G (p.Ser491=)
NM_000520.6(HEXA):c.1474G>C (p.Asp492His)
NM_000520.6(HEXA):c.147T>C (p.Asp49=)
NM_000520.6(HEXA):c.1481C>G (p.Thr494Arg) rs2088600017
NM_000520.6(HEXA):c.1487C>G (p.Ala496Gly)
NM_000520.6(HEXA):c.1488C>G (p.Ala496=)
NM_000520.6(HEXA):c.148G>A (p.Val50Ile)
NM_000520.6(HEXA):c.1491T>G (p.Tyr497Ter)
NM_000520.6(HEXA):c.1499del (p.Leu500fs) rs1567295184
NM_000520.6(HEXA):c.1509C>G (p.Phe503Leu)
NM_000520.6(HEXA):c.1510del (p.Arg504fs) rs797044433
NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu) rs121907955
NM_000520.6(HEXA):c.1521G>A (p.Leu507=)
NM_000520.6(HEXA):c.1524G>A (p.Leu508=) rs2140319542
NM_000520.6(HEXA):c.1525_1526+27del rs2140319516
NM_000520.6(HEXA):c.1526+13T>C rs1406864261
NM_000520.6(HEXA):c.1526+14G>A
NM_000520.6(HEXA):c.1526+1G>A
NM_000520.6(HEXA):c.1526+1G>T rs1309204908
NM_000520.6(HEXA):c.1526+20T>G
NM_000520.6(HEXA):c.1526+7_1526+10del rs1165016914
NM_000520.6(HEXA):c.1527-10C>T
NM_000520.6(HEXA):c.1527-18C>T
NM_000520.6(HEXA):c.1527-4G>A
NM_000520.6(HEXA):c.1527-4G>C
NM_000520.6(HEXA):c.1527-7C>T rs2088581612
NM_000520.6(HEXA):c.152G>C (p.Ser51Thr) rs2089058076
NM_000520.6(HEXA):c.1532G>T (p.Gly511Val)
NM_000520.6(HEXA):c.1533T>C (p.Gly511=) rs761249905
NM_000520.6(HEXA):c.1533T>G (p.Gly511=)
NM_000520.6(HEXA):c.1536C>G (p.Val512=)
NM_000520.6(HEXA):c.1537C>T (p.Gln513Ter)
NM_000520.6(HEXA):c.1549dup (p.Leu517fs) rs1555472161
NM_000520.6(HEXA):c.1554T>C (p.Asn518=) rs749609063
NM_000520.6(HEXA):c.1556T>C (p.Val519Ala)
NM_000520.6(HEXA):c.155C>A (p.Ser52Ter) rs987036804
NM_000520.6(HEXA):c.1563C>T (p.Phe521=)
NM_000520.6(HEXA):c.156G>C (p.Ser52=)
NM_000520.6(HEXA):c.1571A>C (p.Gln524Pro) rs1432462387
NM_000520.6(HEXA):c.1574A>G (p.Glu525Gly)
NM_000520.6(HEXA):c.1578T>C (p.Phe526=) rs2140318501
NM_000520.6(HEXA):c.157G>A (p.Ala53Thr)
NM_000520.6(HEXA):c.157G>T (p.Ala53Ser) rs2140344593
NM_000520.6(HEXA):c.1587C>T (p.Thr529=)
NM_000520.6(HEXA):c.159C>T (p.Ala53=) rs2140344589
NM_000520.6(HEXA):c.162G>T (p.Ala54=)
NM_000520.6(HEXA):c.165G>A (p.Gln55=)
NM_000520.6(HEXA):c.167C>G (p.Pro56Arg)
NM_000520.6(HEXA):c.169G>C (p.Gly57Arg) rs2089057551
NM_000520.6(HEXA):c.16C>A (p.Leu6Ile) rs1167125379
NM_000520.6(HEXA):c.176C>T (p.Ser59Leu)
NM_000520.6(HEXA):c.178G>T (p.Val60Phe)
NM_000520.6(HEXA):c.179T>C (p.Val60Ala)
NM_000520.6(HEXA):c.17T>G (p.Leu6Arg)
NM_000520.6(HEXA):c.181C>T (p.Leu61Phe) rs1595816175
NM_000520.6(HEXA):c.183C>G (p.Leu61=) rs2089056934
NM_000520.6(HEXA):c.183C>T (p.Leu61=) rs2089056934
NM_000520.6(HEXA):c.186C>T (p.Asp62=) rs765001944
NM_000520.6(HEXA):c.189G>A (p.Glu63=) rs1401078087
NM_000520.6(HEXA):c.190G>A (p.Ala64Thr)
NM_000520.6(HEXA):c.195C>T (p.Phe65=)
NM_000520.6(HEXA):c.196del (p.Gln66fs)
NM_000520.6(HEXA):c.19del (p.Trp7fs)
NM_000520.6(HEXA):c.1A>C (p.Met1Leu) rs121907965
NM_000520.6(HEXA):c.1A>T (p.Met1Leu) rs121907965
NM_000520.6(HEXA):c.200G>A (p.Arg67His)
NM_000520.6(HEXA):c.200G>T (p.Arg67Leu) rs1213459678
NM_000520.6(HEXA):c.203A>G (p.Tyr68Cys)
NM_000520.6(HEXA):c.20G>A (p.Trp7Ter) rs751546658
NM_000520.6(HEXA):c.211C>T (p.Leu71=)
NM_000520.6(HEXA):c.213G>C (p.Leu71=) rs2140344454
NM_000520.6(HEXA):c.218_219insAAA (p.Phe73delinsLeuAsn) rs1555475468
NM_000520.6(HEXA):c.219C>T (p.Phe73=) rs2089055709
NM_000520.6(HEXA):c.222T>G (p.Gly74=)
NM_000520.6(HEXA):c.225C>G (p.Ser75=)
NM_000520.6(HEXA):c.226_242del (p.Gly76fs) rs2140344404
NM_000520.6(HEXA):c.227G>C (p.Gly76Ala) rs2089055615
NM_000520.6(HEXA):c.228G>C (p.Gly76=)
NM_000520.6(HEXA):c.228G>T (p.Gly76=)
NM_000520.6(HEXA):c.228del (p.Ser77fs)
NM_000520.6(HEXA):c.229T>G (p.Ser77Ala)
NM_000520.6(HEXA):c.230C>T (p.Ser77Phe) rs2089055459
NM_000520.6(HEXA):c.236C>G (p.Pro79Arg)
NM_000520.6(HEXA):c.237_253+7del rs770628999
NM_000520.6(HEXA):c.238C>A (p.Arg80Ser) rs1240272655
NM_000520.6(HEXA):c.248T>C (p.Leu83Pro) rs1477850542
NM_000520.6(HEXA):c.249C>T (p.Leu83=) rs1416793758
NM_000520.6(HEXA):c.253+1100_253+1948del
NM_000520.6(HEXA):c.253+14G>A
NM_000520.6(HEXA):c.253+18C>T
NM_000520.6(HEXA):c.253+19G>A
NM_000520.6(HEXA):c.253+19G>C rs370680843
NM_000520.6(HEXA):c.253+20C>A
NM_000520.6(HEXA):c.253+4A>C rs746118260
NM_000520.6(HEXA):c.253+5G>A
NM_000520.6(HEXA):c.253+5G>T
NM_000520.6(HEXA):c.253+7C>G
NM_000520.6(HEXA):c.253+7C>T rs996974364
NM_000520.6(HEXA):c.253+8G>C
NM_000520.6(HEXA):c.253+9G>C rs2089054710
NM_000520.6(HEXA):c.254-10G>A
NM_000520.6(HEXA):c.254-10G>T
NM_000520.6(HEXA):c.254-12C>G
NM_000520.6(HEXA):c.254-15A>T
NM_000520.6(HEXA):c.254-17T>C rs2140329132
NM_000520.6(HEXA):c.254-1G>C
NM_000520.6(HEXA):c.254-20A>G
NM_000520.6(HEXA):c.254-2A>G rs2088785868
NM_000520.6(HEXA):c.254G>A (p.Gly85Glu)
NM_000520.6(HEXA):c.259C>A (p.Arg87=) rs573269641
NM_000520.6(HEXA):c.25dup (p.Ser9fs)
NM_000520.6(HEXA):c.260G>T (p.Arg87Leu)
NM_000520.6(HEXA):c.261G>A (p.Arg87=) rs1298623340
NM_000520.6(HEXA):c.267A>G (p.Thr89=)
NM_000520.6(HEXA):c.268C>T (p.Leu90=) rs2140329094
NM_000520.6(HEXA):c.26C>A (p.Ser9Ter) rs769370282
NM_000520.6(HEXA):c.270G>C (p.Leu90=)
NM_000520.6(HEXA):c.273G>A (p.Glu91=) rs2140329075
NM_000520.6(HEXA):c.276dup (p.Asn93fs) rs2088785055
NM_000520.6(HEXA):c.277A>G (p.Asn93Asp) rs2140329070
NM_000520.6(HEXA):c.27G>T (p.Ser9=)
NM_000520.6(HEXA):c.282G>A (p.Val94=)
NM_000520.6(HEXA):c.285G>C (p.Leu95Phe)
NM_000520.6(HEXA):c.289_290del (p.Val97fs) rs2140329051
NM_000520.6(HEXA):c.293C>G (p.Ser98Cys)
NM_000520.6(HEXA):c.294T>C (p.Ser98=)
NM_000520.6(HEXA):c.298G>T (p.Val100Phe) rs794727250
NM_000520.6(HEXA):c.300C>G (p.Val100=) rs2140329021
NM_000520.6(HEXA):c.304C>T (p.Pro102Ser) rs1217876329
NM_000520.6(HEXA):c.306T>C (p.Pro102=)
NM_000520.6(HEXA):c.307G>A (p.Gly103Arg)
NM_000520.6(HEXA):c.308G>A (p.Gly103Glu)
NM_000520.6(HEXA):c.309A>T (p.Gly103=) rs1595804037
NM_000520.6(HEXA):c.310_313dup (p.Asn105delinsMetTer) rs2088783222
NM_000520.6(HEXA):c.312T>C (p.Cys104=) rs760781092
NM_000520.6(HEXA):c.31C>T (p.Leu11=)
NM_000520.6(HEXA):c.32del (p.Leu11fs) rs2140344855
NM_000520.6(HEXA):c.331G>A (p.Glu111Lys) rs2140328962
NM_000520.6(HEXA):c.332A>G (p.Glu111Gly) rs2140328958
NM_000520.6(HEXA):c.336A>G (p.Ser112=)
NM_000520.6(HEXA):c.336A>T (p.Ser112=)
NM_000520.6(HEXA):c.33G>A (p.Leu11=) rs2140344852
NM_000520.6(HEXA):c.346+10A>G rs2140328935
NM_000520.6(HEXA):c.346+18C>T
NM_000520.6(HEXA):c.346+1G>A rs797044432
NM_000520.6(HEXA):c.346+1G>T rs797044432
NM_000520.6(HEXA):c.346+5G>A rs1414011185
NM_000520.6(HEXA):c.346+8C>T
NM_000520.6(HEXA):c.347-12_347-11del rs2088766986
NM_000520.6(HEXA):c.347-17C>A
NM_000520.6(HEXA):c.347-17C>T rs761054655
NM_000520.6(HEXA):c.347-20G>A rs1055316951
NM_000520.6(HEXA):c.347-7A>G rs1567300313
NM_000520.6(HEXA):c.34C>G (p.Leu12Val)
NM_000520.6(HEXA):c.350C>A (p.Thr117Asn)
NM_000520.6(HEXA):c.351C>G (p.Thr117=)
NM_000520.6(HEXA):c.358A>G (p.Ile120Val) rs1567300305
NM_000520.6(HEXA):c.364G>C (p.Asp122His)
NM_000520.6(HEXA):c.366T>C (p.Asp122=) rs1302430521
NM_000520.6(HEXA):c.367G>A (p.Asp123Asn)
NM_000520.6(HEXA):c.367G>T (p.Asp123Tyr) rs768750119
NM_000520.6(HEXA):c.36G>A (p.Leu12=)
NM_000520.6(HEXA):c.379C>T (p.Leu127Phe)
NM_000520.6(HEXA):c.37G>A (p.Ala13Thr)
NM_000520.6(HEXA):c.380T>G (p.Leu127Arg) rs121907975
NM_000520.6(HEXA):c.381C>A (p.Leu127=) rs1595803351
NM_000520.6(HEXA):c.381C>T (p.Leu127=) rs1595803351
NM_000520.6(HEXA):c.386C>G (p.Ser129Cys)
NM_000520.6(HEXA):c.390G>A (p.Glu130=) rs2140328190
NM_000520.6(HEXA):c.395T>G (p.Val132Gly)
NM_000520.6(HEXA):c.395_398del (p.Val132fs) rs2140328176
NM_000520.6(HEXA):c.397del (p.Trp133fs) rs2088765656
NM_000520.6(HEXA):c.3G>A (p.Met1Ile) rs1595816410
NM_000520.6(HEXA):c.3G>T (p.Met1Ile)
NM_000520.6(HEXA):c.405T>C (p.Ala135=) rs2140328173
NM_000520.6(HEXA):c.408C>T (p.Leu136=) rs2088765442
NM_000520.6(HEXA):c.412+10T>C rs2140328149
NM_000520.6(HEXA):c.412+14G>T
NM_000520.6(HEXA):c.412+16T>A
NM_000520.6(HEXA):c.412+17G>C
NM_000520.6(HEXA):c.412+18A>T
NM_000520.6(HEXA):c.412+1G>T rs2140328162
NM_000520.6(HEXA):c.412+5C>A rs2088765141
NM_000520.6(HEXA):c.412+7A>G rs2088764993
NM_000520.6(HEXA):c.412+9T>C
NM_000520.6(HEXA):c.413-10A>G rs1361722304
NM_000520.6(HEXA):c.413-12A>G
NM_000520.6(HEXA):c.413-14C>G rs2140326832
NM_000520.6(HEXA):c.413-16C>T
NM_000520.6(HEXA):c.413-1G>A
NM_000520.6(HEXA):c.413-2A>G rs2088733862
NM_000520.6(HEXA):c.413-4C>G rs373382175
NM_000520.6(HEXA):c.414T>C (p.Gly138=) rs1361295729
NM_000520.6(HEXA):c.417G>A (p.Leu139=) rs1567299634
NM_000520.6(HEXA):c.417_418delinsTC (p.Glu140Gln)
NM_000520.6(HEXA):c.422del (p.Thr141fs) rs2088733629
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer) rs1057519458
NM_000520.6(HEXA):c.42A>G (p.Ala14=) rs2089060994
NM_000520.6(HEXA):c.430C>T (p.Gln144Ter) rs1595802191
NM_000520.6(HEXA):c.438T>G (p.Val146=) rs2140326788
NM_000520.6(HEXA):c.441G>A (p.Trp147Ter)
NM_000520.6(HEXA):c.442A>G (p.Lys148Glu) rs2140326779
NM_000520.6(HEXA):c.44C>T (p.Ala15Val)
NM_000520.6(HEXA):c.450T>C (p.Ala150=) rs1195208193
NM_000520.6(HEXA):c.459+13_459+14del
NM_000520.6(HEXA):c.459+19A>C
NM_000520.6(HEXA):c.459+1G>A rs2140326761
NM_000520.6(HEXA):c.459+24G>C
NM_000520.6(HEXA):c.459+2dup rs1555473138
NM_000520.6(HEXA):c.459+9G>T
NM_000520.6(HEXA):c.460-10T>C
NM_000520.6(HEXA):c.460-11G>A
NM_000520.6(HEXA):c.460-15G>A rs2140326434
NM_000520.6(HEXA):c.460-17A>G
NM_000520.6(HEXA):c.460-17A>T
NM_000520.6(HEXA):c.460-18A>G
NM_000520.6(HEXA):c.460-19C>T rs1680245631
NM_000520.6(HEXA):c.460-2A>G
NM_000520.6(HEXA):c.462C>A (p.Phe154Leu) rs1272644968
NM_000520.6(HEXA):c.465del (p.Phe155fs) rs1057516850
NM_000520.6(HEXA):c.469A>G (p.Asn157Asp)
NM_000520.6(HEXA):c.472A>G (p.Lys158Glu)
NM_000520.6(HEXA):c.477_478del (p.Glu160fs)
NM_000520.6(HEXA):c.478G>A (p.Glu160Lys) rs2088724627
NM_000520.6(HEXA):c.492T>C (p.Phe164=) rs2088724431
NM_000520.6(HEXA):c.492del (p.Arg166fs) rs2140326388
NM_000520.6(HEXA):c.495C>T (p.Pro165=)
NM_000520.6(HEXA):c.496C>T (p.Arg166Cys)
NM_000520.6(HEXA):c.498C>T (p.Arg166=)
NM_000520.6(HEXA):c.49_50delinsTT (p.Ala17Leu)
NM_000520.6(HEXA):c.4A>G (p.Thr2Ala)
NM_000520.6(HEXA):c.501T>C (p.Phe167=)
NM_000520.6(HEXA):c.505C>G (p.His169Asp)
NM_000520.6(HEXA):c.50C>T (p.Ala17Val)
NM_000520.6(HEXA):c.510G>A (p.Arg170=) rs760406474
NM_000520.6(HEXA):c.512G>A (p.Gly171Asp) rs2088723709
NM_000520.6(HEXA):c.516G>A (p.Leu172=) rs1567299356
NM_000520.6(HEXA):c.519G>A (p.Leu173=)
NM_000520.6(HEXA):c.519G>C (p.Leu173=) rs771696420
NM_000520.6(HEXA):c.51A>C (p.Ala17=) rs2140344816
NM_000520.6(HEXA):c.51_52insAGTTTTCGCTGCTGCTGGCGGCAGCGTTCGCA (p.Gly18fs) rs2140344825
NM_000520.6(HEXA):c.521dup (p.Leu174fs)
NM_000520.6(HEXA):c.524A>G (p.Asp175Gly)
NM_000520.6(HEXA):c.528A>C (p.Thr176=) rs1458388844
NM_000520.6(HEXA):c.528A>G (p.Thr176=)
NM_000520.6(HEXA):c.538T>C (p.Tyr180His) rs28941771
NM_000520.6(HEXA):c.540C>T (p.Tyr180=)
NM_000520.6(HEXA):c.541C>T (p.Leu181=)
NM_000520.6(HEXA):c.542T>C (p.Leu181Pro) rs2088722634
NM_000520.6(HEXA):c.545C>G (p.Pro182Arg)
NM_000520.6(HEXA):c.546dup (p.Leu183fs) rs1595801740
NM_000520.6(HEXA):c.54A>G (p.Gly18=)
NM_000520.6(HEXA):c.551_552del (p.Leu183_Ser184insTer) rs1555473070
NM_000520.6(HEXA):c.552T>C (p.Ser184=) rs1387980987
NM_000520.6(HEXA):c.555C>T (p.Ser185=)
NM_000520.6(HEXA):c.558C>T (p.Ile186=) rs144652159
NM_000520.6(HEXA):c.559C>T (p.Leu187=) rs1390872805
NM_000520.6(HEXA):c.566C>G (p.Thr189Ser)
NM_000520.6(HEXA):c.568C>T (p.Leu190=)
NM_000520.6(HEXA):c.568_569del (p.Leu190fs) rs2088721832
NM_000520.6(HEXA):c.570+10C>A rs1453635996
NM_000520.6(HEXA):c.570+10C>G rs1453635996
NM_000520.6(HEXA):c.570+10C>T
NM_000520.6(HEXA):c.570+11C>T
NM_000520.6(HEXA):c.570+16G>A
NM_000520.6(HEXA):c.570+1G>A rs786204754
NM_000520.6(HEXA):c.570+3A>C
NM_000520.6(HEXA):c.570+7A>C
NM_000520.6(HEXA):c.570+9G>C rs2088721599
NM_000520.6(HEXA):c.570G>A (p.Leu190=)
NM_000520.6(HEXA):c.571-15C>A rs2140324790
NM_000520.6(HEXA):c.571-16G>T
NM_000520.6(HEXA):c.571-19T>C
NM_000520.6(HEXA):c.571-4A>G rs2140324768
NM_000520.6(HEXA):c.571-6C>T
NM_000520.6(HEXA):c.571-7C>T
NM_000520.6(HEXA):c.571-8A>C rs2140324777
NM_000520.6(HEXA):c.572A>G (p.Asp191Gly) rs2140324755
NM_000520.6(HEXA):c.576C>T (p.Val192=)
NM_000520.6(HEXA):c.577A>G (p.Met193Val) rs748427632
NM_000520.6(HEXA):c.57G>C (p.Arg19=)
NM_000520.6(HEXA):c.582G>C (p.Ala194=) rs112614306
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr) rs121907973
NM_000520.6(HEXA):c.598G>T (p.Val200Leu)
NM_000520.6(HEXA):c.59C>G (p.Ala20Gly)
NM_000520.6(HEXA):c.59C>T (p.Ala20Val) rs749545037
NM_000520.6(HEXA):c.603C>T (p.Phe201=) rs767318868
NM_000520.6(HEXA):c.606C>T (p.His202=) rs2140324709
NM_000520.6(HEXA):c.607T>G (p.Trp203Gly) rs1002712424
NM_000520.6(HEXA):c.60G>T (p.Ala20=)
NM_000520.6(HEXA):c.60_61dup (p.Thr21fs) rs1057517296
NM_000520.6(HEXA):c.617T>C (p.Val206Ala) rs2140324697
NM_000520.6(HEXA):c.627T>G (p.Pro209=)
NM_000520.6(HEXA):c.629C>A (p.Ser210Tyr)
NM_000520.6(HEXA):c.629C>T (p.Ser210Phe) rs121907961
NM_000520.6(HEXA):c.62C>T (p.Thr21Met)
NM_000520.6(HEXA):c.631_634del (p.Phe211fs) rs2088690227
NM_000520.6(HEXA):c.633C>T (p.Phe211=) rs2140324675
NM_000520.6(HEXA):c.637T>C (p.Tyr213His) rs1057519461
NM_000520.6(HEXA):c.638A>G (p.Tyr213Cys)
NM_000520.6(HEXA):c.63G>A (p.Thr21=)
NM_000520.6(HEXA):c.63G>T (p.Thr21=)
NM_000520.6(HEXA):c.642G>C (p.Glu214Asp)
NM_000520.6(HEXA):c.651T>G (p.Thr217=) rs773807075
NM_000520.6(HEXA):c.658G>C (p.Glu220Gln)
NM_000520.6(HEXA):c.65C>T (p.Ala22Val)
NM_000520.6(HEXA):c.660G>A (p.Glu220=) rs2140324649
NM_000520.6(HEXA):c.663C>G (p.Leu221=)
NM_000520.6(HEXA):c.664A>G (p.Met222Val) rs768751360
NM_000520.6(HEXA):c.667A>G (p.Arg223Gly) rs1595800426
NM_000520.6(HEXA):c.668G>A (p.Arg223Lys)
NM_000520.6(HEXA):c.66C>T (p.Ala22=) rs990896217
NM_000520.6(HEXA):c.672+11G>T
NM_000520.6(HEXA):c.672+14T>A
NM_000520.6(HEXA):c.672+1G>A rs387906311
NM_000520.6(HEXA):c.672+1G>T
NM_000520.6(HEXA):c.672+2T>C rs2140324625
NM_000520.6(HEXA):c.672+3A>T
NM_000520.6(HEXA):c.672+8C>T
NM_000520.6(HEXA):c.672+9C>G rs2140324618
NM_000520.6(HEXA):c.672G>A (p.Lys224=)
NM_000520.6(HEXA):c.672G>T (p.Lys224Asn) rs780134593
NM_000520.6(HEXA):c.673-11G>A
NM_000520.6(HEXA):c.673-11G>C
NM_000520.6(HEXA):c.673-16G>C
NM_000520.6(HEXA):c.673-4T>C rs1171895864
NM_000520.6(HEXA):c.673-60_673-17del rs1183071056
NM_000520.6(HEXA):c.673-7C>T
NM_000520.6(HEXA):c.675G>T (p.Gly225=)
NM_000520.6(HEXA):c.678C>A (p.Ser226=) rs2140324260
NM_000520.6(HEXA):c.680A>G (p.Tyr227Cys)
NM_000520.6(HEXA):c.684C>T (p.Asn228=) rs2140324256
NM_000520.6(HEXA):c.699C>G (p.Ile233Met) rs2140324240
NM_000520.6(HEXA):c.69C>A (p.Leu23=)
NM_000520.6(HEXA):c.69C>T (p.Leu23=) rs143554538
NM_000520.6(HEXA):c.701A>G (p.Tyr234Cys)
NM_000520.6(HEXA):c.702C>T (p.Tyr234=)
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.6(HEXA):c.70T>A (p.Trp24Arg) rs2140344766
NM_000520.6(HEXA):c.720G>A (p.Lys240=)
NM_000520.6(HEXA):c.723G>A (p.Glu241=) rs1435809210
NM_000520.6(HEXA):c.72G>T (p.Trp24Cys) rs1555475519
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr) rs758166013
NM_000520.6(HEXA):c.736G>T (p.Ala246Ser) rs758166013
NM_000520.6(HEXA):c.738A>C (p.Ala246=) rs2140324194
NM_000520.6(HEXA):c.743del (p.Leu248fs) rs2140324174
NM_000520.6(HEXA):c.744C>T (p.Leu248=)
NM_000520.6(HEXA):c.746G>A (p.Arg249Gln) rs1297800753
NM_000520.6(HEXA):c.747G>C (p.Arg249=)
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser) rs1057521137
NM_000520.6(HEXA):c.749del (p.Gly250fs)
NM_000520.6(HEXA):c.750T>C (p.Gly250=) rs2088681348
NM_000520.6(HEXA):c.753C>T (p.Ile251=)
NM_000520.6(HEXA):c.757G>T (p.Val253Leu)
NM_000520.6(HEXA):c.75C>G (p.Pro25=) rs2089060038
NM_000520.6(HEXA):c.75C>T (p.Pro25=) rs2089060038
NM_000520.6(HEXA):c.762T>C (p.Leu254=) rs1595800026
NM_000520.6(HEXA):c.764C>T (p.Ala255Val)
NM_000520.6(HEXA):c.765A>G (p.Ala255=)
NM_000520.6(HEXA):c.768G>A (p.Glu256=) rs1218888083
NM_000520.6(HEXA):c.775A>G (p.Thr259Ala) rs745997044
NM_000520.6(HEXA):c.785A>G (p.His262Arg)
NM_000520.6(HEXA):c.787A>G (p.Thr263Ala)
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile) rs1057519462
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter) rs121907964
NM_000520.6(HEXA):c.792G>A (p.Leu264=) rs2140324097
NM_000520.6(HEXA):c.797G>A (p.Trp266Ter)
NM_000520.6(HEXA):c.805+10A>T rs2140324073
NM_000520.6(HEXA):c.805+12G>T
NM_000520.6(HEXA):c.805+14C>T
NM_000520.6(HEXA):c.805+1G>A rs121907980
NM_000520.6(HEXA):c.805+8T>C rs2140324076
NM_000520.6(HEXA):c.805+9G>C
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg) rs121907954
NM_000520.6(HEXA):c.806-10C>A rs2140323098
NM_000520.6(HEXA):c.806-11T>C
NM_000520.6(HEXA):c.806-19G>A
NM_000520.6(HEXA):c.806-8T>C rs2140323096
NM_000520.6(HEXA):c.806G>A (p.Gly269Asp) rs2088664194
NM_000520.6(HEXA):c.80C>T (p.Pro27Leu)
NM_000520.6(HEXA):c.810C>T (p.Ile270=) rs2140323086
NM_000520.6(HEXA):c.813T>G (p.Pro271=)
NM_000520.6(HEXA):c.814G>A (p.Gly272Arg)
NM_000520.6(HEXA):c.818T>C (p.Leu273Ser) rs2088664026
NM_000520.6(HEXA):c.820C>T (p.Leu274=)
NM_000520.6(HEXA):c.823A>G (p.Thr275Ala)
NM_000520.6(HEXA):c.826C>G (p.Pro276Ala)
NM_000520.6(HEXA):c.828T>G (p.Pro276=)
NM_000520.6(HEXA):c.831C>T (p.Cys277=)
NM_000520.6(HEXA):c.833A>G (p.Tyr278Cys) rs772036483
NM_000520.6(HEXA):c.834C>G (p.Tyr278Ter)
NM_000520.6(HEXA):c.843T>C (p.Ser281=) rs2140323055
NM_000520.6(HEXA):c.846G>A (p.Glu282=) rs1362329720
NM_000520.6(HEXA):c.848C>T (p.Pro283Leu)
NM_000520.6(HEXA):c.849C>A (p.Pro283=)
NM_000520.6(HEXA):c.849C>G (p.Pro283=) rs2140323045
NM_000520.6(HEXA):c.849C>T (p.Pro283=) rs2140323045
NM_000520.6(HEXA):c.855_856insTC (p.Thr286fs)
NM_000520.6(HEXA):c.857C>T (p.Thr286Ile)
NM_000520.6(HEXA):c.858C>T (p.Thr286=) rs748958444
NM_000520.6(HEXA):c.859T>C (p.Phe287Leu)
NM_000520.6(HEXA):c.861T>C (p.Phe287=)
NM_000520.6(HEXA):c.889A>G (p.Thr297Ala)
NM_000520.6(HEXA):c.88T>G (p.Phe30Val) rs2140344740
NM_000520.6(HEXA):c.893A>G (p.Tyr298Cys) rs1396944040
NM_000520.6(HEXA):c.896A>C (p.Glu299Ala)
NM_000520.6(HEXA):c.8G>T (p.Ser3Ile) rs374524755
NM_000520.6(HEXA):c.900C>T (p.Phe300=)
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_000520.6(HEXA):c.907A>C (p.Thr303Pro) rs759837903
NM_000520.6(HEXA):c.908C>T (p.Thr303Ile)
NM_000520.6(HEXA):c.909A>G (p.Thr303=)
NM_000520.6(HEXA):c.909A>T (p.Thr303=) rs2088661576
NM_000520.6(HEXA):c.912C>T (p.Phe304=) rs1385655581
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del) rs121907960
NM_000520.6(HEXA):c.913T>C (p.Phe305Leu)
NM_000520.6(HEXA):c.91C>T (p.Gln31Ter) rs556872918
NM_000520.6(HEXA):c.921A>G (p.Glu307=) rs1457483877
NM_000520.6(HEXA):c.924C>T (p.Val308=) rs2140322950
NM_000520.6(HEXA):c.926G>A (p.Ser309Asn) rs2088661242
NM_000520.6(HEXA):c.926G>C (p.Ser309Thr)
NM_000520.6(HEXA):c.929C>T (p.Ser310Phe)
NM_000520.6(HEXA):c.929_930del (p.Ser310fs) rs751248523
NM_000520.6(HEXA):c.930T>C (p.Ser310=)
NM_000520.6(HEXA):c.931_942del (p.Val311_Asp314del)
NM_000520.6(HEXA):c.933C>T (p.Val311=) rs2088661117
NM_000520.6(HEXA):c.936C>T (p.Phe312=)
NM_000520.6(HEXA):c.938del (p.Pro313fs) rs2140322934
NM_000520.6(HEXA):c.939A>G (p.Pro313=)
NM_000520.6(HEXA):c.947A>G (p.Tyr316Cys)
NM_000520.6(HEXA):c.962G>A (p.Gly321Glu) rs1316178162
NM_000520.6(HEXA):c.964G>A (p.Asp322Asn) rs772180415
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000520.6(HEXA):c.965A>G (p.Asp322Gly)
NM_000520.6(HEXA):c.965A>T (p.Asp322Val)
NM_000520.6(HEXA):c.967G>T (p.Glu323Ter)
NM_000520.6(HEXA):c.969G>A (p.Glu323=)
NM_000520.6(HEXA):c.96C>G (p.Thr32=)
NM_000520.6(HEXA):c.96C>T (p.Thr32=) rs2140344723
NM_000520.6(HEXA):c.984C>T (p.Cys328=)
NM_000520.6(HEXA):c.986+10C>A
NM_000520.6(HEXA):c.986+1G>A rs2140322856
NM_000520.6(HEXA):c.986+1G>C rs2140322856
NM_000520.6(HEXA):c.986+20C>A
NM_000520.6(HEXA):c.986+6A>T
NM_000520.6(HEXA):c.986+7G>C
NM_000520.6(HEXA):c.986+8C>T rs2140322848
NM_000520.6(HEXA):c.986+9C>A
NM_000520.6(HEXA):c.986G>A (p.Trp329Ter)
NM_000520.6(HEXA):c.987-12C>T
NM_000520.6(HEXA):c.987-19A>T
NM_000520.6(HEXA):c.98C>G (p.Ser33Cys) rs1416996557
NM_000520.6(HEXA):c.994A>C (p.Asn332His)
NM_000520.6(HEXA):c.995A>T (p.Asn332Ile) rs2140322212
NM_000520.6(HEXA):c.996C>A (p.Asn332Lys)
NM_000520.6(HEXA):c.997C>G (p.Pro333Ala)
NM_000520.6(HEXA):c.99C>A (p.Ser33=) rs2140344713
NM_000520.6(HEXA):c.99C>T (p.Ser33=)
NM_000521.3(HEXB):c.773del rs1373278959
NM_000521.4(HEXB):c.*82_*83del rs56312827
NM_000521.4(HEXB):c.1005A>G (p.Thr335=)
NM_000521.4(HEXB):c.1010dup (p.Lys338fs) rs1579952143
NM_000521.4(HEXB):c.1017_1018del (p.Glu339fs) rs2112175206
NM_000521.4(HEXB):c.1021_1023delinsTCAAA (p.Glu342fs) rs1749651392
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs) rs776476415
NM_000521.4(HEXB):c.1024del (p.Glu342fs) rs2112175228
NM_000521.4(HEXB):c.1026G>A (p.Glu342=) rs2112175234
NM_000521.4(HEXB):c.1027G>C (p.Val343Leu) rs774657424
NM_000521.4(HEXB):c.1029G>A (p.Val343=) rs767987520
NM_000521.4(HEXB):c.1029G>C (p.Val343=) rs767987520
NM_000521.4(HEXB):c.102G>T (p.Ala34=)
NM_000521.4(HEXB):c.1048C>G (p.His350Asp)
NM_000521.4(HEXB):c.1050T>C (p.His350=)
NM_000521.4(HEXB):c.1053G>C (p.Leu351Phe)
NM_000521.4(HEXB):c.1057G>C (p.Gly353Arg) rs1749652995
NM_000521.4(HEXB):c.1062T>C (p.Asp354=) rs1749653155
NM_000521.4(HEXB):c.1066G>A (p.Val356Met)
NM_000521.4(HEXB):c.1082+12C>T
NM_000521.4(HEXB):c.1082+13C>A
NM_000521.4(HEXB):c.1082+20C>G
NM_000521.4(HEXB):c.1082+2T>C rs989299922
NM_000521.4(HEXB):c.1082+7T>A rs1249872768
NM_000521.4(HEXB):c.1082+7T>C
NM_000521.4(HEXB):c.1082G>A (p.Trp361Ter) rs1361998528
NM_000521.4(HEXB):c.1083-10T>A rs2112176963
NM_000521.4(HEXB):c.1083-12T>G
NM_000521.4(HEXB):c.1083-15C>A
NM_000521.4(HEXB):c.1083-6C>G
NM_000521.4(HEXB):c.1086A>G (p.Glu362=) rs2112176992
NM_000521.4(HEXB):c.108G>A (p.Val36=) rs1275258823
NM_000521.4(HEXB):c.109G>T (p.Val37Leu)
NM_000521.4(HEXB):c.1101T>C (p.Ile367=) rs1749677760
NM_000521.4(HEXB):c.1104A>C (p.Gln368His)
NM_000521.4(HEXB):c.1107T>C (p.Asp369=)
NM_000521.4(HEXB):c.1125C>T (p.Gly375=)
NM_000521.4(HEXB):c.1133C>T (p.Thr378Ile)
NM_000521.4(HEXB):c.1134A>G (p.Thr378=)
NM_000521.4(HEXB):c.1144A>T (p.Lys382Ter) rs1306678448
NM_000521.4(HEXB):c.1149A>G (p.Leu383=) rs1336014813
NM_000521.4(HEXB):c.114G>A (p.Gln38=)
NM_000521.4(HEXB):c.1155T>C (p.Ser385=)
NM_000521.4(HEXB):c.1156_1159del (p.Phe386fs) rs1272697701
NM_000521.4(HEXB):c.1158C>T (p.Phe386=)
NM_000521.4(HEXB):c.1159_1160insTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTCTTTTCCTTTTATTTTATTTTTTGAGACGGAGTCTTGCTCTGTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTGAAGCGGAAACTAGAATCTTTCT (p.Tyr387delinsPhePhePhePhePhePheXaaXaaXaaXaaPhePhePheSerPheTyrPheIlePheTer) rs2112177114
NM_000521.4(HEXB):c.115del (p.Val39fs) rs398123443
NM_000521.4(HEXB):c.1161C>T (p.Tyr387=) rs2112177152
NM_000521.4(HEXB):c.1169+18C>T
NM_000521.4(HEXB):c.1169+1G>A
NM_000521.4(HEXB):c.1169+1G>C rs2112177192
NM_000521.4(HEXB):c.1169+3_1169+10del rs398123444
NM_000521.4(HEXB):c.1169+5G>C
NM_000521.4(HEXB):c.1169+8G>A
NM_000521.4(HEXB):c.1169+8G>T rs778530133
NM_000521.4(HEXB):c.1170-10G>A
NM_000521.4(HEXB):c.1170-11T>C
NM_000521.4(HEXB):c.1170-11T>G
NM_000521.4(HEXB):c.1170-11del
NM_000521.4(HEXB):c.1170-11dup
NM_000521.4(HEXB):c.1170-12T>G
NM_000521.4(HEXB):c.1170-16T>A
NM_000521.4(HEXB):c.1170-16T>G
NM_000521.4(HEXB):c.1170-17T>A
NM_000521.4(HEXB):c.1170-18A>C
NM_000521.4(HEXB):c.1170-18A>T
NM_000521.4(HEXB):c.1170-4C>T rs2112179635
NM_000521.4(HEXB):c.1170-5A>C
NM_000521.4(HEXB):c.1170-6T>C rs2112179633
NM_000521.4(HEXB):c.1170-9T>A
NM_000521.4(HEXB):c.117G>T (p.Val39=)
NM_000521.4(HEXB):c.118G>T (p.Ala40Ser)
NM_000521.4(HEXB):c.1191C>T (p.Thr397=)
NM_000521.4(HEXB):c.120G>A (p.Ala40=)
NM_000521.4(HEXB):c.1216C>T (p.Gln406Ter)
NM_000521.4(HEXB):c.1227dup (p.Asp410Ter)
NM_000521.4(HEXB):c.1242+10G>A
NM_000521.4(HEXB):c.1242+18T>C
NM_000521.4(HEXB):c.1242+3G>A
NM_000521.4(HEXB):c.1242+9dup
NM_000521.4(HEXB):c.1243-15T>C
NM_000521.4(HEXB):c.1243-18A>C
NM_000521.4(HEXB):c.1243-20G>A
NM_000521.4(HEXB):c.1243-9C>A
NM_000521.4(HEXB):c.1243-9C>T rs771008510
NM_000521.4(HEXB):c.1251G>C (p.Pro417=)
NM_000521.4(HEXB):c.1251G>T (p.Pro417=) rs144264311
NM_000521.4(HEXB):c.1252G>C (p.Gly418Arg)
NM_000521.4(HEXB):c.1253G>A (p.Gly418Asp)
NM_000521.4(HEXB):c.1263T>G (p.Val421=) rs1454392093
NM_000521.4(HEXB):c.1264dup (p.Glu422fs) rs2112180571
NM_000521.4(HEXB):c.1265A>T (p.Glu422Val) rs757550590
NM_000521.4(HEXB):c.126G>T (p.Ala42=) rs1457481809
NM_000521.4(HEXB):c.1275A>G (p.Lys425=) rs2112180604
NM_000521.4(HEXB):c.1276G>A (p.Asp426Asn)
NM_000521.4(HEXB):c.1276G>C (p.Asp426His)
NM_000521.4(HEXB):c.1278_1279del (p.Asp426fs) rs2112180614
NM_000521.4(HEXB):c.1284A>G (p.Ala428=)
NM_000521.4(HEXB):c.1288_1294del (p.Pro430fs)
NM_000521.4(HEXB):c.1294dup (p.Glu432fs) rs775920504
NM_000521.4(HEXB):c.1296A>G (p.Glu432=) rs1456292951
NM_000521.4(HEXB):c.1299_1303del (p.Arg435fs) rs2112180705
NM_000521.4(HEXB):c.12C>T (p.Cys4=) rs2112122203
NM_000521.4(HEXB):c.1303_1304insT (p.Arg435fs) rs2112180739
NM_000521.4(HEXB):c.1303del (p.Arg435fs)
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs) rs779328596
NM_000521.4(HEXB):c.130C>T (p.Arg44Trp)
NM_000521.4(HEXB):c.1310_1311del (p.Thr437fs) rs761240717
NM_000521.4(HEXB):c.1314A>G (p.Ala438=)
NM_000521.4(HEXB):c.1320C>G (p.Gly440=) rs976848045
NM_000521.4(HEXB):c.1320C>T (p.Gly440=)
NM_000521.4(HEXB):c.1335T>G (p.Leu445=)
NM_000521.4(HEXB):c.1345del (p.Trp449fs) rs1324338803
NM_000521.4(HEXB):c.1350C>T (p.Tyr450=)
NM_000521.4(HEXB):c.135C>T (p.Ala45=) rs1748837958
NM_000521.4(HEXB):c.1362T>A (p.Ile454=) rs552896059
NM_000521.4(HEXB):c.1365C>G (p.Ser455Arg) rs2112180879
NM_000521.4(HEXB):c.1365C>T (p.Ser455=)
NM_000521.4(HEXB):c.136C>G (p.Pro46Ala) rs1392645389
NM_000521.4(HEXB):c.1377T>C (p.Asp459=)
NM_000521.4(HEXB):c.1379G>A (p.Trp460Ter)
NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter) rs1554036943
NM_000521.4(HEXB):c.1389_1393del (p.Tyr463_Lys465delinsTer) rs2112180944
NM_000521.4(HEXB):c.138G>A (p.Pro46=) rs1378693652
NM_000521.4(HEXB):c.1398G>A (p.Val466=)
NM_000521.4(HEXB):c.1404del (p.Asp470fs) rs2112180987
NM_000521.4(HEXB):c.1408_1409insCA (p.Asp470fs)
NM_000521.4(HEXB):c.1416C>T (p.Gly472=)
NM_000521.4(HEXB):c.1417+19C>T
NM_000521.4(HEXB):c.1417+9A>G rs755763718
NM_000521.4(HEXB):c.1418-11T>C
NM_000521.4(HEXB):c.1418-12_1418del rs1554037076
NM_000521.4(HEXB):c.1418-13G>T
NM_000521.4(HEXB):c.1418-15A>G
NM_000521.4(HEXB):c.1418-15A>T
NM_000521.4(HEXB):c.1418-16A>G
NM_000521.4(HEXB):c.1418-18_1418-14del
NM_000521.4(HEXB):c.1418-21_1418-19del
NM_000521.4(HEXB):c.1431_1432del (p.Lys478fs)
NM_000521.4(HEXB):c.1434_1437dup (p.Leu480fs)
NM_000521.4(HEXB):c.1434dup (p.Gln479fs)
NM_000521.4(HEXB):c.1437A>G (p.Gln479=) rs139129900
NM_000521.4(HEXB):c.1462_1481dup (p.Ala495fs)
NM_000521.4(HEXB):c.1464A>G (p.Leu488=)
NM_000521.4(HEXB):c.1465T>C (p.Trp489Arg)
NM_000521.4(HEXB):c.1469del (p.Gly490fs)
NM_000521.4(HEXB):c.1469dup (p.Glu491fs)
NM_000521.4(HEXB):c.1472A>G (p.Glu491Gly)
NM_000521.4(HEXB):c.1473A>G (p.Glu491=)
NM_000521.4(HEXB):c.1474_1477delinsAA (p.Tyr492fs) rs1749803258
NM_000521.4(HEXB):c.1476T>C (p.Tyr492=)
NM_000521.4(HEXB):c.1479G>A (p.Val493=)
NM_000521.4(HEXB):c.147G>A (p.Ser49=)
NM_000521.4(HEXB):c.147G>C (p.Ser49=)
NM_000521.4(HEXB):c.1492C>T (p.Leu498Phe)
NM_000521.4(HEXB):c.1494C>G (p.Leu498=) rs149960235
NM_000521.4(HEXB):c.1494C>T (p.Leu498=) rs149960235
NM_000521.4(HEXB):c.1500A>G (p.Pro500=) rs2112185426
NM_000521.4(HEXB):c.1508+11T>C
NM_000521.4(HEXB):c.1508+12A>G
NM_000521.4(HEXB):c.1508+15T>C
NM_000521.4(HEXB):c.1508+18T>C
NM_000521.4(HEXB):c.1508+6G>C
NM_000521.4(HEXB):c.1509-10T>C
NM_000521.4(HEXB):c.1509-12T>A
NM_000521.4(HEXB):c.1509-12T>C
NM_000521.4(HEXB):c.1509-15T>C
NM_000521.4(HEXB):c.1509-18G>A
NM_000521.4(HEXB):c.1509-20A>T
NM_000521.4(HEXB):c.1509-21_1509-13del
NM_000521.4(HEXB):c.1509-21del rs747523020
NM_000521.4(HEXB):c.1509-26G>A rs201580118
NM_000521.4(HEXB):c.1509-26G>C rs201580118
NM_000521.4(HEXB):c.1509-4T>C rs2112185863
NM_000521.4(HEXB):c.1509-7A>T rs2112185850
NM_000521.4(HEXB):c.1509-7dup rs1749809709
NM_000521.4(HEXB):c.1509-8A>T
NM_000521.4(HEXB):c.150C>T (p.Ala50=) rs779421706
NM_000521.4(HEXB):c.1512T>C (p.Pro504=) rs1469774539
NM_000521.4(HEXB):c.1514G>C (p.Arg505Pro) rs121907983
NM_000521.4(HEXB):c.1518A>C (p.Ala506=)
NM_000521.4(HEXB):c.1534A>C (p.Arg512=)
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs) rs794727091
NM_000521.4(HEXB):c.1539C>T (p.Leu513=) rs1258974496
NM_000521.4(HEXB):c.1559_1562dup (p.Asp521fs) rs1554037129
NM_000521.4(HEXB):c.1560A>G (p.Arg520=) rs1184573477
NM_000521.4(HEXB):c.1563T>C (p.Asp521=) rs2112186134
NM_000521.4(HEXB):c.1563_1573del (p.Met522fs) rs1749812910
NM_000521.4(HEXB):c.1569T>C (p.Asp523=)
NM_000521.4(HEXB):c.1573G>A (p.Ala525Thr)
NM_000521.4(HEXB):c.1575C>T (p.Ala525=)
NM_000521.4(HEXB):c.1575_1590dup (p.Arg531delinsLeuTer) rs1554037137
NM_000521.4(HEXB):c.1577_1578del (p.Ala525_Tyr526insTer)
NM_000521.4(HEXB):c.1578T>G (p.Tyr526Ter) rs1460801055
NM_000521.4(HEXB):c.1581C>T (p.Asp527=)
NM_000521.4(HEXB):c.1586_1589del (p.Leu529fs) rs2112186316
NM_000521.4(HEXB):c.1593G>A (p.Arg531=)
NM_000521.4(HEXB):c.159G>A (p.Gly53=) rs1428463982
NM_000521.4(HEXB):c.15G>T (p.Gly5=)
NM_000521.4(HEXB):c.1603A>G (p.Arg535Gly)
NM_000521.4(HEXB):c.1605G>A (p.Arg535=)
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr) rs778119481
NM_000521.4(HEXB):c.160C>T (p.Pro54Ser)
NM_000521.4(HEXB):c.1611C>T (p.Val537=)
NM_000521.4(HEXB):c.1611_1613+2del rs1554037170
NM_000521.4(HEXB):c.1613+10del rs2112186585
NM_000521.4(HEXB):c.1613+11T>G
NM_000521.4(HEXB):c.1613+13_1613+15del
NM_000521.4(HEXB):c.1613+14T>A
NM_000521.4(HEXB):c.1613+14del rs754704434
NM_000521.4(HEXB):c.1613+15_1613+16dup
NM_000521.4(HEXB):c.1613+15_1613+19dup
NM_000521.4(HEXB):c.1613+17G>T
NM_000521.4(HEXB):c.1613+19C>G
NM_000521.4(HEXB):c.1613+19C>T
NM_000521.4(HEXB):c.1613+6_1613+21dup rs2112186573
NM_000521.4(HEXB):c.1613+7_1613+21dup
NM_000521.4(HEXB):c.1613+8A>C
NM_000521.4(HEXB):c.1614-19_1614-18del
NM_000521.4(HEXB):c.1614-6C>T
NM_000521.4(HEXB):c.1614-6_1628dup rs2112188881
NM_000521.4(HEXB):c.1614-7_1614-1dup rs2112188865
NM_000521.4(HEXB):c.1614-7dup rs2112188857
NM_000521.4(HEXB):c.1614-8A>G rs745567727
NM_000521.4(HEXB):c.1614-9T>C
NM_000521.4(HEXB):c.1617T>A (p.Arg539=)
NM_000521.4(HEXB):c.1626T>C (p.Ala542=)
NM_000521.4(HEXB):c.1629A>G (p.Ala543=)
NM_000521.4(HEXB):c.1630C>A (p.Gln544Lys) rs766477016
NM_000521.4(HEXB):c.1635T>G (p.Pro545=)
NM_000521.4(HEXB):c.1637T>C (p.Leu546Pro) rs1749847397
NM_000521.4(HEXB):c.1640dup (p.Tyr547Ter)
NM_000521.4(HEXB):c.1641T>C (p.Tyr547=) rs2112189098
NM_000521.4(HEXB):c.1641_1654del (p.Tyr547_Asn552delinsTer) rs2112189087
NM_000521.4(HEXB):c.1642_1657del (p.Ala548fs) rs1749847524
NM_000521.4(HEXB):c.1645G>T (p.Gly549Ter)
NM_000521.4(HEXB):c.164C>T (p.Ala55Val)
NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr) rs727503961
NM_000521.4(HEXB):c.1653T>C (p.Cys551=)
NM_000521.4(HEXB):c.165G>T (p.Ala55=)
NM_000521.4(HEXB):c.166C>T (p.Leu56=)
NM_000521.4(HEXB):c.1671A>G (p.Ter557=)
NM_000521.4(HEXB):c.16C>T (p.Leu6=) rs1580376985
NM_000521.4(HEXB):c.170G>A (p.Trp57Ter) rs1114167287
NM_000521.4(HEXB):c.171del (p.Trp57fs) rs771973471
NM_000521.4(HEXB):c.176T>C (p.Leu59Pro) rs774155487
NM_000521.4(HEXB):c.181C>T (p.Leu61Phe)
NM_000521.4(HEXB):c.201G>A (p.Pro67=) rs371914695
NM_000521.4(HEXB):c.201del (p.Asn68fs)
NM_000521.4(HEXB):c.20G>A (p.Gly7Glu)
NM_000521.4(HEXB):c.219C>A (p.Ala73=)
NM_000521.4(HEXB):c.219C>G (p.Ala73=) rs771754401
NM_000521.4(HEXB):c.21G>A (p.Gly7=)
NM_000521.4(HEXB):c.221C>G (p.Pro74Arg)
NM_000521.4(HEXB):c.230_232del (p.Phe77del) rs1554034490
NM_000521.4(HEXB):c.231C>T (p.Phe77=)
NM_000521.4(HEXB):c.234C>T (p.Tyr78=)
NM_000521.4(HEXB):c.236T>C (p.Ile79Thr)
NM_000521.4(HEXB):c.240C>T (p.Ser80=) rs2112123022
NM_000521.4(HEXB):c.250A>C (p.Asn84His)
NM_000521.4(HEXB):c.255C>T (p.Ser85=)
NM_000521.4(HEXB):c.261G>A (p.Ala87=)
NM_000521.4(HEXB):c.264C>A (p.Gly88=)
NM_000521.4(HEXB):c.264C>G (p.Gly88=)
NM_000521.4(HEXB):c.267C>T (p.Pro89=)
NM_000521.4(HEXB):c.269C>G (p.Ser90Cys)
NM_000521.4(HEXB):c.276C>A (p.Thr92=) rs140509633
NM_000521.4(HEXB):c.282G>A (p.Leu94=)
NM_000521.4(HEXB):c.283del (p.Glu95fs) rs1748845774
NM_000521.4(HEXB):c.289G>A (p.Ala97Thr)
NM_000521.4(HEXB):c.298C>T (p.Arg100Ter) rs1007338250
NM_000521.4(HEXB):c.298del (p.Arg100fs) rs886039499
NM_000521.4(HEXB):c.299+12C>T
NM_000521.4(HEXB):c.299+14G>A
NM_000521.4(HEXB):c.299+15_299+23del
NM_000521.4(HEXB):c.299+17C>A
NM_000521.4(HEXB):c.299+17C>G
NM_000521.4(HEXB):c.299+18G>T
NM_000521.4(HEXB):c.299+19G>A
NM_000521.4(HEXB):c.300-18C>T
NM_000521.4(HEXB):c.300-1G>A rs967720287
NM_000521.4(HEXB):c.300-1G>C rs967720287
NM_000521.4(HEXB):c.300-20T>C
NM_000521.4(HEXB):c.300-4dup
NM_000521.4(HEXB):c.300-6A>G
NM_000521.4(HEXB):c.300-7C>T rs2112129012
NM_000521.4(HEXB):c.300A>C (p.Arg100=) rs1303786596
NM_000521.4(HEXB):c.302A>G (p.Tyr101Cys) rs1748942839
NM_000521.4(HEXB):c.303T>C (p.Tyr101=) rs768307371
NM_000521.4(HEXB):c.306T>C (p.His102=)
NM_000521.4(HEXB):c.321T>A (p.Gly107=)
NM_000521.4(HEXB):c.32C>T (p.Pro11Leu)
NM_000521.4(HEXB):c.332G>A (p.Trp111Ter) rs1748943719
NM_000521.4(HEXB):c.333G>A (p.Trp111Ter) rs761117459
NM_000521.4(HEXB):c.333G>C (p.Trp111Cys)
NM_000521.4(HEXB):c.339T>C (p.His113=) rs1748944024
NM_000521.4(HEXB):c.341_342del (p.Glu114fs)
NM_000521.4(HEXB):c.343_351del (p.Pro115_Glu117del) rs760427424
NM_000521.4(HEXB):c.345T>C (p.Pro115=) rs1467307393
NM_000521.4(HEXB):c.378A>G (p.Gln126=) rs2112129226
NM_000521.4(HEXB):c.381T>C (p.Leu127=) rs2112129230
NM_000521.4(HEXB):c.387C>G (p.Val129=)
NM_000521.4(HEXB):c.390A>C (p.Ser130=) rs1748945386
NM_000521.4(HEXB):c.392T>G (p.Ile131Ser) rs1748945643
NM_000521.4(HEXB):c.408G>A (p.Glu136=)
NM_000521.4(HEXB):c.409T>C (p.Cys137Arg)
NM_000521.4(HEXB):c.425A>G (p.Asn142Ser)
NM_000521.4(HEXB):c.42G>A (p.Leu14=) rs1580377030
NM_000521.4(HEXB):c.42G>C (p.Leu14=) rs1580377030
NM_000521.4(HEXB):c.42G>T (p.Leu14=) rs1580377030
NM_000521.4(HEXB):c.439G>T (p.Glu147Ter)
NM_000521.4(HEXB):c.441G>A (p.Glu147=)
NM_000521.4(HEXB):c.444T>G (p.Ser148=)
NM_000521.4(HEXB):c.445+11A>G
NM_000521.4(HEXB):c.445+12T>C
NM_000521.4(HEXB):c.445+12T>G
NM_000521.4(HEXB):c.445+14C>T
NM_000521.4(HEXB):c.445+16A>G
NM_000521.4(HEXB):c.445+1G>A rs761197472
NM_000521.4(HEXB):c.445+1G>C rs761197472
NM_000521.4(HEXB):c.445+7A>G rs2112129385
NM_000521.4(HEXB):c.445+8C>T
NM_000521.4(HEXB):c.446-12T>C
NM_000521.4(HEXB):c.446-16dup
NM_000521.4(HEXB):c.446-21_446-14del
NM_000521.4(HEXB):c.446-4A>G
NM_000521.4(HEXB):c.446-6A>T rs763290427
NM_000521.4(HEXB):c.446-7A>G rs775644956
NM_000521.4(HEXB):c.450T>A (p.Thr150=) rs2112135859
NM_000521.4(HEXB):c.451_452dup (p.Leu151fs) rs1749049871
NM_000521.4(HEXB):c.452T>A (p.Leu151Ter) rs2112135868
NM_000521.4(HEXB):c.477C>T (p.Val159=)
NM_000521.4(HEXB):c.488A>G (p.Asn163Ser)
NM_000521.4(HEXB):c.495T>C (p.Val165=)
NM_000521.4(HEXB):c.500G>C (p.Gly167Ala) rs951616685
NM_000521.4(HEXB):c.504A>C (p.Ala168=) rs993517054
NM_000521.4(HEXB):c.50T>A (p.Leu17Gln)
NM_000521.4(HEXB):c.511+10A>C rs1172289714
NM_000521.4(HEXB):c.511+10A>G
NM_000521.4(HEXB):c.511+14A>G
NM_000521.4(HEXB):c.511+16T>G
NM_000521.4(HEXB):c.511+7T>C
NM_000521.4(HEXB):c.512-12T>C
NM_000521.4(HEXB):c.512-18A>G
NM_000521.4(HEXB):c.516A>G (p.Leu172=)
NM_000521.4(HEXB):c.519G>A (p.Glu173=) rs1422448735
NM_000521.4(HEXB):c.522C>A (p.Thr174=)
NM_000521.4(HEXB):c.52C>T (p.Leu18=)
NM_000521.4(HEXB):c.531G>A (p.Gln177=) rs923395829
NM_000521.4(HEXB):c.534A>G (p.Leu178=)
NM_000521.4(HEXB):c.534_537del (p.Leu178fs)
NM_000521.4(HEXB):c.535_538del (p.Val179fs)
NM_000521.4(HEXB):c.539A>G (p.Tyr180Cys)
NM_000521.4(HEXB):c.542A>C (p.Gln181Pro) rs1177358563
NM_000521.4(HEXB):c.552T>C (p.Tyr184=) rs573447174
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter) rs573447174
NM_000521.4(HEXB):c.558+10A>G
NM_000521.4(HEXB):c.558+16A>T
NM_000521.4(HEXB):c.558+18_558+19del
NM_000521.4(HEXB):c.558+19T>C
NM_000521.4(HEXB):c.558+1G>C rs1198764997
NM_000521.4(HEXB):c.558+7A>G
NM_000521.4(HEXB):c.558+7A>T rs1252577576
NM_000521.4(HEXB):c.559-11T>C
NM_000521.4(HEXB):c.559-18A>G
NM_000521.4(HEXB):c.559-18A>T rs374665376
NM_000521.4(HEXB):c.559-1G>A
NM_000521.4(HEXB):c.559-1G>T rs1311903314
NM_000521.4(HEXB):c.559-4A>G rs1417706193
NM_000521.4(HEXB):c.55T>C (p.Leu19=) rs2112122357
NM_000521.4(HEXB):c.563C>T (p.Thr188Ile) rs1352027066
NM_000521.4(HEXB):c.565A>G (p.Ile189Val)
NM_000521.4(HEXB):c.567C>A (p.Ile189=) rs2112141498
NM_000521.4(HEXB):c.567C>T (p.Ile189=) rs2112141498
NM_000521.4(HEXB):c.571_574del (p.Glu191fs) rs1749127843
NM_000521.4(HEXB):c.582T>C (p.Ile194=) rs2112141535
NM_000521.4(HEXB):c.591T>C (p.Ser197=)
NM_000521.4(HEXB):c.592C>T (p.Pro198Ser)
NM_000521.4(HEXB):c.594A>G (p.Pro198=)
NM_000521.4(HEXB):c.597G>A (p.Arg199=) rs1206573829
NM_000521.4(HEXB):c.60G>A (p.Ala20=)
NM_000521.4(HEXB):c.630C>T (p.Ser210=)
NM_000521.4(HEXB):c.632G>C (p.Arg211Thr)
NM_000521.4(HEXB):c.63A>G (p.Thr21=)
NM_000521.4(HEXB):c.646G>A (p.Val216Ile)
NM_000521.4(HEXB):c.64C>T (p.Leu22=)
NM_000521.4(HEXB):c.64_65del (p.Leu22fs) rs1748834145
NM_000521.4(HEXB):c.654T>A (p.Ile218=) rs1395527567
NM_000521.4(HEXB):c.659T>C (p.Leu220Pro) rs1749130818
NM_000521.4(HEXB):c.660T>G (p.Leu220=) rs914649805
NM_000521.4(HEXB):c.669+10T>C rs2112141738
NM_000521.4(HEXB):c.669+10T>G rs2112141738
NM_000521.4(HEXB):c.669+12C>T
NM_000521.4(HEXB):c.669+16A>G
NM_000521.4(HEXB):c.670-10T>C
NM_000521.4(HEXB):c.670-10T>G rs763971063
NM_000521.4(HEXB):c.670-13T>C
NM_000521.4(HEXB):c.670-14A>T
NM_000521.4(HEXB):c.670-14_670-13del rs886060751
NM_000521.4(HEXB):c.670-6T>C
NM_000521.4(HEXB):c.670-8G>A rs2112156271
NM_000521.4(HEXB):c.670-9T>G rs2112156269
NM_000521.4(HEXB):c.675C>T (p.Ala225=)
NM_000521.4(HEXB):c.680C>A (p.Ala227Asp)
NM_000521.4(HEXB):c.699T>C (p.Val233=)
NM_000521.4(HEXB):c.69G>A (p.Leu23=) rs1453045657
NM_000521.4(HEXB):c.705C>G (p.His235Gln) rs2112156345
NM_000521.4(HEXB):c.705C>T (p.His235=) rs2112156345
NM_000521.4(HEXB):c.707G>A (p.Trp236Ter)
NM_000521.4(HEXB):c.710A>G (p.His237Arg)
NM_000521.4(HEXB):c.711C>T (p.His237=)
NM_000521.4(HEXB):c.729T>C (p.Ser243=)
NM_000521.4(HEXB):c.72G>A (p.Ala24=)
NM_000521.4(HEXB):c.731del (p.Phe244fs) rs2112156393
NM_000521.4(HEXB):c.735A>T (p.Pro245=) rs758398934
NM_000521.4(HEXB):c.738T>A (p.Tyr246Ter)
NM_000521.4(HEXB):c.758del (p.Glu253fs)
NM_000521.4(HEXB):c.759G>A (p.Glu253=)
NM_000521.4(HEXB):c.75G>A (p.Ala25=) rs1416490499
NM_000521.4(HEXB):c.761T>C (p.Leu254Ser) rs771103635
NM_000521.4(HEXB):c.76del (p.Met26fs) rs1580377105
NM_000521.4(HEXB):c.770A>C (p.Lys257Thr)
NM_000521.4(HEXB):c.771+10T>C
NM_000521.4(HEXB):c.771+14A>G
NM_000521.4(HEXB):c.771+17G>C
NM_000521.4(HEXB):c.771+20C>G
NM_000521.4(HEXB):c.771+20C>T
NM_000521.4(HEXB):c.771+8A>C
NM_000521.4(HEXB):c.771+9A>G rs768648039
NM_000521.4(HEXB):c.772-12T>C
NM_000521.4(HEXB):c.772-2A>C
NM_000521.4(HEXB):c.772-5T>C rs2112171612
NM_000521.4(HEXB):c.772-8T>C rs540508015
NM_000521.4(HEXB):c.782_785del (p.Ser261fs) rs1312009126
NM_000521.4(HEXB):c.78G>A (p.Met26Ile) rs886060750
NM_000521.4(HEXB):c.790C>T (p.His264Tyr)
NM_000521.4(HEXB):c.79T>C (p.Leu27=)
NM_000521.4(HEXB):c.7C>T (p.Leu3=)
NM_000521.4(HEXB):c.801A>G (p.Thr267=)
NM_000521.4(HEXB):c.810T>C (p.Asp270=)
NM_000521.4(HEXB):c.811G>A (p.Val271Ile)
NM_000521.4(HEXB):c.817A>G (p.Met273Val)
NM_000521.4(HEXB):c.81G>A (p.Leu27=)
NM_000521.4(HEXB):c.822G>C (p.Val274=)
NM_000521.4(HEXB):c.824T>C (p.Ile275Thr)
NM_000521.4(HEXB):c.828A>G (p.Glu276=)
NM_000521.4(HEXB):c.838T>C (p.Leu280=) rs1057518432
NM_000521.4(HEXB):c.838_863dup (p.Glu288fs)
NM_000521.4(HEXB):c.839T>G (p.Leu280Ter) rs1579950499
NM_000521.4(HEXB):c.843A>G (p.Arg281=) rs2112171867
NM_000521.4(HEXB):c.844G>C (p.Gly282Arg)
NM_000521.4(HEXB):c.855C>T (p.Val285=) rs781190762
NM_000521.4(HEXB):c.858G>A (p.Leu286=) rs2112171900
NM_000521.4(HEXB):c.858G>T (p.Leu286=)
NM_000521.4(HEXB):c.867T>A (p.Phe289Leu)
NM_000521.4(HEXB):c.872C>T (p.Thr291Ile) rs2112171931
NM_000521.4(HEXB):c.875dup (p.Gly293fs)
NM_000521.4(HEXB):c.876del (p.His294fs) rs1749604779
NM_000521.4(HEXB):c.879G>C (p.Gly293=) rs1208134816
NM_000521.4(HEXB):c.881A>G (p.His294Arg) rs1749605069
NM_000521.4(HEXB):c.888A>C (p.Leu296=)
NM_000521.4(HEXB):c.892del (p.Trp298fs)
NM_000521.4(HEXB):c.893G>A (p.Trp298Ter)
NM_000521.4(HEXB):c.894G>A (p.Trp298Ter)
NM_000521.4(HEXB):c.901+11G>T
NM_000521.4(HEXB):c.901+7A>C
NM_000521.4(HEXB):c.901+8G>C
NM_000521.4(HEXB):c.901G>C (p.Gly301Arg) rs2112172036
NM_000521.4(HEXB):c.902-15A>C
NM_000521.4(HEXB):c.90G>A (p.Leu30=)
NM_000521.4(HEXB):c.916_917del (p.Leu306fs) rs2112174996
NM_000521.4(HEXB):c.922C>G (p.Pro308Ala)
NM_000521.4(HEXB):c.924A>C (p.Pro308=)
NM_000521.4(HEXB):c.924A>G (p.Pro308=) rs2112175034
NM_000521.4(HEXB):c.925T>C (p.Cys309Arg)
NM_000521.4(HEXB):c.926G>A (p.Cys309Tyr) rs1554036641
NM_000521.4(HEXB):c.937C>T (p.Gln313Ter)
NM_000521.4(HEXB):c.93T>C (p.Thr31=) rs1748835619
NM_000521.4(HEXB):c.946T>C (p.Leu316=)
NM_000521.4(HEXB):c.948G>A (p.Leu316=) rs1749649162
NM_000521.4(HEXB):c.96G>C (p.Gln32His)
NM_000521.4(HEXB):c.972T>C (p.Pro324=) rs1749650159
NM_000521.4(HEXB):c.973_1010del (p.Thr325fs)
NM_000521.4(HEXB):c.986C>T (p.Thr329Ile) rs1561226697
NM_000521.4(HEXB):c.987A>G (p.Thr329=)
NM_000521.4(HEXB):c.992_993insAGTATGTA (p.Ser331fs) rs2112175171
NM_000521.4(HEXB):c.993C>T (p.Ser331=) rs2112175174
NM_000521.4(HEXB):c.9G>T (p.Leu3=)
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs) rs1575206357
NM_000784.4(CYP27A1):c.1010T>C (p.Val337Ala) rs759622995
NM_000784.4(CYP27A1):c.1016C>A (p.Thr339Lys)
NM_000784.4(CYP27A1):c.1017+10G>T
NM_000784.4(CYP27A1):c.1017+11G>C rs766039123
NM_000784.4(CYP27A1):c.1017+11G>T rs766039123
NM_000784.4(CYP27A1):c.1017+14G>C rs1196582375
NM_000784.4(CYP27A1):c.1017+14del rs372792485
NM_000784.4(CYP27A1):c.1017+15_1017+18del rs1679085939
NM_000784.4(CYP27A1):c.1017+17G>A rs1431354879
NM_000784.4(CYP27A1):c.1017+17G>T
NM_000784.4(CYP27A1):c.1017+18G>T
NM_000784.4(CYP27A1):c.1017+1del rs1559392904
NM_000784.4(CYP27A1):c.1017+5G>C rs370304209
NM_000784.4(CYP27A1):c.1018-11C>G
NM_000784.4(CYP27A1):c.1018-16C>T
NM_000784.4(CYP27A1):c.1018-19C>A
NM_000784.4(CYP27A1):c.1018-19C>T
NM_000784.4(CYP27A1):c.1018-1G>C rs1575206658
NM_000784.4(CYP27A1):c.1018-4C>G
NM_000784.4(CYP27A1):c.1018-4C>T
NM_000784.4(CYP27A1):c.1018-8T>C rs1943753198
NM_000784.4(CYP27A1):c.1026C>T (p.Asn342=)
NM_000784.4(CYP27A1):c.1028C>G (p.Thr343Arg) rs372194079
NM_000784.4(CYP27A1):c.1029G>T (p.Thr343=) rs771343931
NM_000784.4(CYP27A1):c.102C>T (p.Ala34=) rs773208703
NM_000784.4(CYP27A1):c.1030C>T (p.Leu344=)
NM_000784.4(CYP27A1):c.1035A>G (p.Thr345=)
NM_000784.4(CYP27A1):c.1037G>A (p.Trp346Ter)
NM_000784.4(CYP27A1):c.1041C>T (p.Ala347=)
NM_000784.4(CYP27A1):c.1044G>A (p.Leu348=) rs776794344
NM_000784.4(CYP27A1):c.1048C>T (p.His350Tyr)
NM_000784.4(CYP27A1):c.104T>C (p.Leu35Pro) rs2106479125
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg) rs1470602732
NM_000784.4(CYP27A1):c.1053C>G (p.Leu351=)
NM_000784.4(CYP27A1):c.105C>T (p.Leu35=)
NM_000784.4(CYP27A1):c.1060G>A (p.Asp354Asn) rs2105980881
NM_000784.4(CYP27A1):c.1064del (p.Pro355fs) rs1575206688
NM_000784.4(CYP27A1):c.1065T>C (p.Pro355=)
NM_000784.4(CYP27A1):c.1068_1072dup (p.Gln358fs)
NM_000784.4(CYP27A1):c.1074G>A (p.Gln358=) rs2105980889
NM_000784.4(CYP27A1):c.1075G>A (p.Glu359Lys) rs760471205
NM_000784.4(CYP27A1):c.1076A>C (p.Glu359Ala)
NM_000784.4(CYP27A1):c.1078G>C (p.Ala360Pro) rs1463950337
NM_000784.4(CYP27A1):c.1080C>T (p.Ala360=)
NM_000784.4(CYP27A1):c.1081T>C (p.Leu361=)
NM_000784.4(CYP27A1):c.1085A>G (p.His362Arg) rs886043798
NM_000784.4(CYP27A1):c.1086C>A (p.His362Gln) rs139426361
NM_000784.4(CYP27A1):c.1087G>A (p.Glu363Lys)
NM_000784.4(CYP27A1):c.1087G>T (p.Glu363Ter) rs72551321
NM_000784.4(CYP27A1):c.108C>G (p.Pro36=)
NM_000784.4(CYP27A1):c.108C>T (p.Pro36=) rs760334139
NM_000784.4(CYP27A1):c.1095G>A (p.Val365=) rs1045010358
NM_000784.4(CYP27A1):c.1099_1102dup (p.Val368fs)
NM_000784.4(CYP27A1):c.1107G>A (p.Val369=) rs2105980920
NM_000784.4(CYP27A1):c.1109C>T (p.Pro370Leu) rs2105980922
NM_000784.4(CYP27A1):c.110C>G (p.Ser37Trp) rs1559384559
NM_000784.4(CYP27A1):c.1112C>T (p.Ala371Val)
NM_000784.4(CYP27A1):c.1113C>G (p.Ala371=)
NM_000784.4(CYP27A1):c.1114G>T (p.Gly372Trp) rs369969903
NM_000784.4(CYP27A1):c.1116G>A (p.Gly372=)
NM_000784.4(CYP27A1):c.1116G>C (p.Gly372=) rs1943755876
NM_000784.4(CYP27A1):c.1116G>T (p.Gly372=) rs1943755876
NM_000784.4(CYP27A1):c.1116del (p.Gln373fs)
NM_000784.4(CYP27A1):c.1117C>A (p.Gln373Lys) rs536176295
NM_000784.4(CYP27A1):c.111G>C (p.Ser37=)
NM_000784.4(CYP27A1):c.1121T>A (p.Val374Glu) rs1943755995
NM_000784.4(CYP27A1):c.1126del (p.Gln376fs)
NM_000784.4(CYP27A1):c.1130A>G (p.His377Arg)
NM_000784.4(CYP27A1):c.1134G>A (p.Lys378=)
NM_000784.4(CYP27A1):c.1140del (p.Phe380fs)
NM_000784.4(CYP27A1):c.1145A>C (p.His382Pro)
NM_000784.4(CYP27A1):c.1146C>T (p.His382=)
NM_000784.4(CYP27A1):c.115A>T (p.Lys39Ter)
NM_000784.4(CYP27A1):c.1162G>T (p.Ala388Ser)
NM_000784.4(CYP27A1):c.1165G>A (p.Val389Met) rs2105980957
NM_000784.4(CYP27A1):c.1167G>A (p.Val389=)
NM_000784.4(CYP27A1):c.1170T>G (p.Leu390=)
NM_000784.4(CYP27A1):c.1170del (p.Lys391fs)
NM_000784.4(CYP27A1):c.1174G>C (p.Glu392Gln)
NM_000784.4(CYP27A1):c.117G>A (p.Lys39=)
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs) rs1178393503
NM_000784.4(CYP27A1):c.1182G>A (p.Leu394=) rs1421364979
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1184+16G>A
NM_000784.4(CYP27A1):c.1184+16G>C rs1445661658
NM_000784.4(CYP27A1):c.1184+16G>T rs1445661658
NM_000784.4(CYP27A1):c.1184+1G>C rs587778777
NM_000784.4(CYP27A1):c.1184+20T>C
NM_000784.4(CYP27A1):c.1184+3A>G rs1943757633
NM_000784.4(CYP27A1):c.1184+7C>G rs1575206765
NM_000784.4(CYP27A1):c.1184+7C>T rs1575206765
NM_000784.4(CYP27A1):c.1184+9G>A rs200457116
NM_000784.4(CYP27A1):c.1184+9G>C rs200457116
NM_000784.4(CYP27A1):c.1185-18A>G
NM_000784.4(CYP27A1):c.1185-19G>A
NM_000784.4(CYP27A1):c.1185-1G>T rs587778779
NM_000784.4(CYP27A1):c.1185-2A>G rs1553616457
NM_000784.4(CYP27A1):c.1185-2A>T rs1553616457
NM_000784.4(CYP27A1):c.1185-4G>A rs776459243
NM_000784.4(CYP27A1):c.1185-4G>T rs776459243
NM_000784.4(CYP27A1):c.1185-5T>C rs2105981044
NM_000784.4(CYP27A1):c.1188C>T (p.Leu396=) rs1271161678
NM_000784.4(CYP27A1):c.1191C>A (p.Tyr397Ter) rs2105981050
NM_000784.4(CYP27A1):c.1191C>T (p.Tyr397=)
NM_000784.4(CYP27A1):c.1193del (p.Pro398fs)
NM_000784.4(CYP27A1):c.1196T>C (p.Val399Ala) rs2105981055
NM_000784.4(CYP27A1):c.1196T>G (p.Val399Gly)
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs) rs886041342
NM_000784.4(CYP27A1):c.1203C>A (p.Pro401=)
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1210T>C (p.Ser404Pro)
NM_000784.4(CYP27A1):c.1212C>T (p.Ser404=)
NM_000784.4(CYP27A1):c.1215G>A (p.Arg405=)
NM_000784.4(CYP27A1):c.1215G>T (p.Arg405=)
NM_000784.4(CYP27A1):c.1218C>T (p.Ile406=)
NM_000784.4(CYP27A1):c.1221A>T (p.Ile407=) rs767002858
NM_000784.4(CYP27A1):c.1231A>T (p.Ile411Phe) rs1943764288
NM_000784.4(CYP27A1):c.1232T>C (p.Ile411Thr)
NM_000784.4(CYP27A1):c.1238T>C (p.Val413Ala)
NM_000784.4(CYP27A1):c.1239T>G (p.Val413=)
NM_000784.4(CYP27A1):c.1239dup (p.Asp414Ter) rs2105981099
NM_000784.4(CYP27A1):c.123C>T (p.Thr41=) rs2106479141
NM_000784.4(CYP27A1):c.1241A>G (p.Asp414Gly) rs2105981100
NM_000784.4(CYP27A1):c.1244G>C (p.Gly415Ala) rs755343859
NM_000784.4(CYP27A1):c.1247T>C (p.Phe416Ser)
NM_000784.4(CYP27A1):c.124G>A (p.Gly42Arg) rs2106479143
NM_000784.4(CYP27A1):c.1263+10del rs765426068
NM_000784.4(CYP27A1):c.1263+14G>C
NM_000784.4(CYP27A1):c.1263+19C>T
NM_000784.4(CYP27A1):c.1263+1G>T
NM_000784.4(CYP27A1):c.1263+5G>A
NM_000784.4(CYP27A1):c.1264-14A>G rs1285698631
NM_000784.4(CYP27A1):c.1264-1G>A rs587778785
NM_000784.4(CYP27A1):c.1264-5T>G
NM_000784.4(CYP27A1):c.1264-6T>C rs2105981164
NM_000784.4(CYP27A1):c.1264-7T>G
NM_000784.4(CYP27A1):c.1264-8C>T rs2105981161
NM_000784.4(CYP27A1):c.1266C>A (p.Thr422=) rs2105981167
NM_000784.4(CYP27A1):c.1266C>T (p.Thr422=)
NM_000784.4(CYP27A1):c.1269G>A (p.Gln423=)
NM_000784.4(CYP27A1):c.1273G>C (p.Val425Leu)
NM_000784.4(CYP27A1):c.1273G>T (p.Val425Leu)
NM_000784.4(CYP27A1):c.1275G>A (p.Val425=)
NM_000784.4(CYP27A1):c.1281C>T (p.Cys427=)
NM_000784.4(CYP27A1):c.1282C>T (p.His428Tyr) rs749202662
NM_000784.4(CYP27A1):c.1284C>T (p.His428=) rs1653127444
NM_000784.4(CYP27A1):c.1286A>C (p.Tyr429Ser) rs774127681
NM_000784.4(CYP27A1):c.1293G>A (p.Val431=)
NM_000784.4(CYP27A1):c.1296C>T (p.Ser432=) rs1943766681
NM_000784.4(CYP27A1):c.1300G>C (p.Asp434His)
NM_000784.4(CYP27A1):c.1301A>C (p.Asp434Ala)
NM_000784.4(CYP27A1):c.130C>T (p.Pro44Ser) rs923201483
NM_000784.4(CYP27A1):c.1312T>G (p.Phe438Val)
NM_000784.4(CYP27A1):c.1320G>A (p.Glu440=)
NM_000784.4(CYP27A1):c.1323T>C (p.Pro441=) rs2105981217
NM_000784.4(CYP27A1):c.1328G>T (p.Ser443Ile)
NM_000784.4(CYP27A1):c.1329C>T (p.Ser443=) rs2105981221
NM_000784.4(CYP27A1):c.132C>G (p.Pro44=) rs933195273
NM_000784.4(CYP27A1):c.132C>T (p.Pro44=) rs933195273
NM_000784.4(CYP27A1):c.1330_1333del (p.Phe444fs)
NM_000784.4(CYP27A1):c.1332C>T (p.Phe444=) rs760024535
NM_000784.4(CYP27A1):c.1333C>T (p.Gln445Ter) rs1325218192
NM_000784.4(CYP27A1):c.1336C>G (p.Pro446Ala) rs753166698
NM_000784.4(CYP27A1):c.1336C>T (p.Pro446Ser)
NM_000784.4(CYP27A1):c.1339_1342dup (p.Arg448fs) rs2105981231
NM_000784.4(CYP27A1):c.1342C>A (p.Arg448Ser) rs730882199
NM_000784.4(CYP27A1):c.1343G>T (p.Arg448Leu)
NM_000784.4(CYP27A1):c.1348C>G (p.Leu450Val) rs1039198612
NM_000784.4(CYP27A1):c.1356C>T (p.Asn452=) rs527395716
NM_000784.4(CYP27A1):c.1371C>T (p.Thr457=) rs1177463640
NM_000784.4(CYP27A1):c.1374C>T (p.Pro458=)
NM_000784.4(CYP27A1):c.1374del (p.Arg459fs) rs751969035
NM_000784.4(CYP27A1):c.1375del (p.Arg459fs)
NM_000784.4(CYP27A1):c.1379T>G (p.Ile460Ser)
NM_000784.4(CYP27A1):c.1380C>T (p.Ile460=)
NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter) rs771819245
NM_000784.4(CYP27A1):c.1391T>G (p.Phe464Cys) rs2105981257
NM_000784.4(CYP27A1):c.1394G>A (p.Gly465Asp) rs777432192
NM_000784.4(CYP27A1):c.1394G>T (p.Gly465Val) rs777432192
NM_000784.4(CYP27A1):c.1399G>C (p.Val467Leu) rs2105981259
NM_000784.4(CYP27A1):c.1404C>T (p.Pro468=)
NM_000784.4(CYP27A1):c.1409G>T (p.Gly470Val)
NM_000784.4(CYP27A1):c.1410C>T (p.Gly470=) rs770435184
NM_000784.4(CYP27A1):c.1412A>T (p.Tyr471Phe)
NM_000784.4(CYP27A1):c.1415G>A (p.Gly472Glu) rs200883871
NM_000784.4(CYP27A1):c.1416G>A (p.Gly472=)
NM_000784.4(CYP27A1):c.1416G>T (p.Gly472=)
NM_000784.4(CYP27A1):c.1416_1423del (p.Val473fs)
NM_000784.4(CYP27A1):c.141G>A (p.Gly47=)
NM_000784.4(CYP27A1):c.1421G>C (p.Arg474Pro)
NM_000784.4(CYP27A1):c.1422G>A (p.Arg474=)
NM_000784.4(CYP27A1):c.1425C>A (p.Ala475=) rs1008075672
NM_000784.4(CYP27A1):c.1425C>T (p.Ala475=)
NM_000784.4(CYP27A1):c.1427G>A (p.Cys476Tyr) rs1372707807
NM_000784.4(CYP27A1):c.1434_1435delinsAA (p.Arg479Ser) rs2105981299
NM_000784.4(CYP27A1):c.1435C>A (p.Arg479Ser) rs72551322
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys) rs72551322
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His) rs199638075
NM_000784.4(CYP27A1):c.1436G>C (p.Arg479Pro)
NM_000784.4(CYP27A1):c.1436G>T (p.Arg479Leu) rs199638075
NM_000784.4(CYP27A1):c.1440G>C (p.Arg480Ser)
NM_000784.4(CYP27A1):c.1444G>T (p.Ala482Ser)
NM_000784.4(CYP27A1):c.1446A>G (p.Ala482=) rs2105981315
NM_000784.4(CYP27A1):c.1449G>A (p.Glu483=)
NM_000784.4(CYP27A1):c.1456A>T (p.Met486Leu) rs150585977
NM_000784.4(CYP27A1):c.1457T>C (p.Met486Thr) rs2105981320
NM_000784.4(CYP27A1):c.1459C>T (p.Gln487Ter) rs1943770060
NM_000784.4(CYP27A1):c.1461G>A (p.Gln487=)
NM_000784.4(CYP27A1):c.1462C>T (p.Leu488=) rs1943770169
NM_000784.4(CYP27A1):c.1463T>C (p.Leu488Pro)
NM_000784.4(CYP27A1):c.1464A>G (p.Leu488=)
NM_000784.4(CYP27A1):c.1466T>A (p.Leu489His) rs2105981325
NM_000784.4(CYP27A1):c.1467C>G (p.Leu489=)
NM_000784.4(CYP27A1):c.1467C>T (p.Leu489=) rs1324313458
NM_000784.4(CYP27A1):c.1468del (p.Leu490fs)
NM_000784.4(CYP27A1):c.1470C>G (p.Leu490=)
NM_000784.4(CYP27A1):c.1471G>A (p.Ala491Thr) rs72551323
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.1472C>T (p.Ala491Val) rs1024898619
NM_000784.4(CYP27A1):c.1473A>C (p.Ala491=)
NM_000784.4(CYP27A1):c.1473A>G (p.Ala491=)
NM_000784.4(CYP27A1):c.1476+10G>A rs1358508044
NM_000784.4(CYP27A1):c.1476+14G>A
NM_000784.4(CYP27A1):c.1476+15G>C
NM_000784.4(CYP27A1):c.1476+17T>C
NM_000784.4(CYP27A1):c.1476+20T>C rs1575207079
NM_000784.4(CYP27A1):c.1476+2T>A
NM_000784.4(CYP27A1):c.1476+2T>C rs1165952837
NM_000784.4(CYP27A1):c.1477-13C>G
NM_000784.4(CYP27A1):c.1477-13C>T
NM_000784.4(CYP27A1):c.1477-16G>T
NM_000784.4(CYP27A1):c.1477-19T>A
NM_000784.4(CYP27A1):c.1477-19T>C
NM_000784.4(CYP27A1):c.1477-20A>G
NM_000784.4(CYP27A1):c.1477-20A>T rs757019811
NM_000784.4(CYP27A1):c.1477-2A>C rs111570247
NM_000784.4(CYP27A1):c.1477-3C>A rs78938783
NM_000784.4(CYP27A1):c.1477-3C>G rs78938783
NM_000784.4(CYP27A1):c.1477-3C>T rs78938783
NM_000784.4(CYP27A1):c.1477-3del rs2105981409
NM_000784.4(CYP27A1):c.1477-3dup
NM_000784.4(CYP27A1):c.1477-4C>A
NM_000784.4(CYP27A1):c.1477-4C>G
NM_000784.4(CYP27A1):c.1477-4C>T
NM_000784.4(CYP27A1):c.1477-5C>G
NM_000784.4(CYP27A1):c.1477-5C>T rs890298373
NM_000784.4(CYP27A1):c.1477-6C>A
NM_000784.4(CYP27A1):c.1477-6C>T rs1182127092
NM_000784.4(CYP27A1):c.1477-7C>A rs2105981410
NM_000784.4(CYP27A1):c.1477-7C>T
NM_000784.4(CYP27A1):c.1477-8C>A rs1461082000
NM_000784.4(CYP27A1):c.1477-8C>G
NM_000784.4(CYP27A1):c.1477-9A>G rs2105981405
NM_000784.4(CYP27A1):c.1477C>A (p.Leu493Met)
NM_000784.4(CYP27A1):c.147T>C (p.Gly49=)
NM_000784.4(CYP27A1):c.1486A>G (p.Lys496Glu)
NM_000784.4(CYP27A1):c.1497G>T (p.Val499=) rs1943773164
NM_000784.4(CYP27A1):c.14G>A (p.Gly5Asp) rs1943396793
NM_000784.4(CYP27A1):c.1500C>T (p.Val500=) rs1268917075
NM_000784.4(CYP27A1):c.1506C>T (p.Ala502=)
NM_000784.4(CYP27A1):c.1508C>T (p.Pro503Leu) rs776752717
NM_000784.4(CYP27A1):c.150C>T (p.Val50=) rs1408697261
NM_000784.4(CYP27A1):c.1514C>A (p.Thr505Lys) rs76822427
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met) rs76822427
NM_000784.4(CYP27A1):c.1517G>A (p.Gly506Glu)
NM_000784.4(CYP27A1):c.1518G>A (p.Gly506=)
NM_000784.4(CYP27A1):c.1519del (p.Glu507fs) rs2105981467
NM_000784.4(CYP27A1):c.1521G>A (p.Glu507=)
NM_000784.4(CYP27A1):c.1524G>A (p.Leu508=) rs970661282
NM_000784.4(CYP27A1):c.1524G>C (p.Leu508Phe) rs970661282
NM_000784.4(CYP27A1):c.152G>A (p.Arg51Gln)
NM_000784.4(CYP27A1):c.152G>C (p.Arg51Pro) rs1333445399
NM_000784.4(CYP27A1):c.1533G>A (p.Val511=)
NM_000784.4(CYP27A1):c.1534G>C (p.Ala512Pro)
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His) rs144701596
NM_000784.4(CYP27A1):c.1538G>T (p.Arg513Leu) rs144701596
NM_000784.4(CYP27A1):c.1538_1539delinsTT (p.Arg513Leu) rs2105981476
NM_000784.4(CYP27A1):c.1539C>T (p.Arg513=) rs1575207204
NM_000784.4(CYP27A1):c.1540A>G (p.Ile514Val) rs1178180058
NM_000784.4(CYP27A1):c.1542T>C (p.Ile514=)
NM_000784.4(CYP27A1):c.1545C>T (p.Val515=)
NM_000784.4(CYP27A1):c.1547T>A (p.Leu516Gln)
NM_000784.4(CYP27A1):c.1548G>T (p.Leu516=) rs2105981481
NM_000784.4(CYP27A1):c.1550T>C (p.Val517Ala)
NM_000784.4(CYP27A1):c.1559A>C (p.Lys520Thr) rs1943774432
NM_000784.4(CYP27A1):c.1559A>G (p.Lys520Arg)
NM_000784.4(CYP27A1):c.1563del (p.Val522fs)
NM_000784.4(CYP27A1):c.1568_*118del (p.Gly523_Ter532delinsXaa)
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter) rs374507635
NM_000784.4(CYP27A1):c.1575G>A (p.Gln525=)
NM_000784.4(CYP27A1):c.157C>G (p.Arg53Gly) rs757522001
NM_000784.4(CYP27A1):c.157C>T (p.Arg53Trp)
NM_000784.4(CYP27A1):c.1589A>G (p.Gln530Arg) rs911127639
NM_000784.4(CYP27A1):c.1591T>G (p.Cys531Gly) rs1943775075
NM_000784.4(CYP27A1):c.1593C>T (p.Cys531=) rs1481894464
NM_000784.4(CYP27A1):c.15C>T (p.Gly5=) rs1943396825
NM_000784.4(CYP27A1):c.165G>A (p.Arg55=) rs2106479159
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del) rs766316288
NM_000784.4(CYP27A1):c.175G>A (p.Glu59Lys)
NM_000784.4(CYP27A1):c.181C>A (p.Pro61Thr)
NM_000784.4(CYP27A1):c.183A>C (p.Pro61=)
NM_000784.4(CYP27A1):c.185G>A (p.Arg62His)
NM_000784.4(CYP27A1):c.185G>C (p.Arg62Pro)
NM_000784.4(CYP27A1):c.187C>T (p.Leu63=)
NM_000784.4(CYP27A1):c.189A>C (p.Leu63=)
NM_000784.4(CYP27A1):c.193C>G (p.Gln65Glu) rs1553614310
NM_000784.4(CYP27A1):c.197T>C (p.Leu66Pro) rs1191317525
NM_000784.4(CYP27A1):c.199C>T (p.Arg67Cys) rs1943400890
NM_000784.4(CYP27A1):c.200G>A (p.Arg67His)
NM_000784.4(CYP27A1):c.201CTT[2] (p.Phe70del) rs774193477
NM_000784.4(CYP27A1):c.205T>C (p.Phe69Leu) rs2106479175
NM_000784.4(CYP27A1):c.219C>A (p.Phe73Leu)
NM_000784.4(CYP27A1):c.219C>T (p.Phe73=)
NM_000784.4(CYP27A1):c.21G>A (p.Ala7=) rs1289665937
NM_000784.4(CYP27A1):c.21G>C (p.Ala7=) rs1289665937
NM_000784.4(CYP27A1):c.220G>C (p.Val74Leu)
NM_000784.4(CYP27A1):c.223C>A (p.Gln75Lys)
NM_000784.4(CYP27A1):c.223C>G (p.Gln75Glu)
NM_000784.4(CYP27A1):c.230A>G (p.Tyr77Cys)
NM_000784.4(CYP27A1):c.231T>C (p.Tyr77=)
NM_000784.4(CYP27A1):c.232G>C (p.Ala78Pro)
NM_000784.4(CYP27A1):c.233C>G (p.Ala78Gly) rs867496731
NM_000784.4(CYP27A1):c.235C>T (p.Leu79=) rs1387640811
NM_000784.4(CYP27A1):c.237G>C (p.Leu79=) rs1295302612
NM_000784.4(CYP27A1):c.238C>T (p.Gln80Ter)
NM_000784.4(CYP27A1):c.246C>T (p.His82=)
NM_000784.4(CYP27A1):c.247C>G (p.Gln83Glu) rs2106479200
NM_000784.4(CYP27A1):c.24dup (p.Leu9fs) rs1163340926
NM_000784.4(CYP27A1):c.252dup (p.Gln85fs)
NM_000784.4(CYP27A1):c.253C>T (p.Gln85Ter) rs1333458369
NM_000784.4(CYP27A1):c.255+10G>A
NM_000784.4(CYP27A1):c.255+14G>A
NM_000784.4(CYP27A1):c.255+14G>T rs767761739
NM_000784.4(CYP27A1):c.255+15C>T
NM_000784.4(CYP27A1):c.255+20C>A rs1943402023
NM_000784.4(CYP27A1):c.255+7C>G
NM_000784.4(CYP27A1):c.255+7del
NM_000784.4(CYP27A1):c.255G>A (p.Gln85=)
NM_000784.4(CYP27A1):c.256-10A>G rs2105978797
NM_000784.4(CYP27A1):c.256-16T>G
NM_000784.4(CYP27A1):c.256-17T>G
NM_000784.4(CYP27A1):c.256-1G>T rs886556800
NM_000784.4(CYP27A1):c.256-20G>A
NM_000784.4(CYP27A1):c.256-2A>G rs1559391390
NM_000784.4(CYP27A1):c.256-5C>T rs768029983
NM_000784.4(CYP27A1):c.256-6C>T
NM_000784.4(CYP27A1):c.256-9A>C
NM_000784.4(CYP27A1):c.256G>T (p.Val86Leu)
NM_000784.4(CYP27A1):c.258G>A (p.Val86=) rs2105978806
NM_000784.4(CYP27A1):c.259C>T (p.Leu87Phe) rs1170171291
NM_000784.4(CYP27A1):c.25C>T (p.Leu9=) rs2106479038
NM_000784.4(CYP27A1):c.26T>C (p.Leu9Pro)
NM_000784.4(CYP27A1):c.279T>C (p.Gly93=) rs773872361
NM_000784.4(CYP27A1):c.287G>A (p.Trp96Ter) rs1943689766
NM_000784.4(CYP27A1):c.290T>G (p.Met97Arg)
NM_000784.4(CYP27A1):c.29G>A (p.Arg10Lys)
NM_000784.4(CYP27A1):c.303G>T (p.Gly101=) rs2105978833
NM_000784.4(CYP27A1):c.303del (p.Pro102fs)
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=) rs1306558952
NM_000784.4(CYP27A1):c.315C>A (p.His105Gln) rs753981913
NM_000784.4(CYP27A1):c.316G>A (p.Val106Met) rs374769409
NM_000784.4(CYP27A1):c.321C>T (p.Asn107=) rs755282568
NM_000784.4(CYP27A1):c.327C>G (p.Ala109=) rs2105978849
NM_000784.4(CYP27A1):c.332C>A (p.Ala111Asp)
NM_000784.4(CYP27A1):c.332C>G (p.Ala111Gly) rs1441761338
NM_000784.4(CYP27A1):c.335C>G (p.Pro112Arg) rs531504325
NM_000784.4(CYP27A1):c.338T>C (p.Leu113Pro)
NM_000784.4(CYP27A1):c.339C>T (p.Leu113=)
NM_000784.4(CYP27A1):c.345G>A (p.Glu115=) rs919883150
NM_000784.4(CYP27A1):c.350T>C (p.Val117Ala)
NM_000784.4(CYP27A1):c.351G>C (p.Val117=)
NM_000784.4(CYP27A1):c.351G>T (p.Val117=)
NM_000784.4(CYP27A1):c.355C>A (p.Arg119=)
NM_000784.4(CYP27A1):c.356G>A (p.Arg119Gln)
NM_000784.4(CYP27A1):c.358C>T (p.Gln120Ter) rs1943690848
NM_000784.4(CYP27A1):c.363G>A (p.Glu121=)
NM_000784.4(CYP27A1):c.369G>A (p.Lys123=) rs2105978882
NM_000784.4(CYP27A1):c.36G>A (p.Ala12=)
NM_000784.4(CYP27A1):c.36G>C (p.Ala12=)
NM_000784.4(CYP27A1):c.371A>T (p.Tyr124Phe)
NM_000784.4(CYP27A1):c.372C>T (p.Tyr124=)
NM_000784.4(CYP27A1):c.375A>G (p.Pro125=)
NM_000784.4(CYP27A1):c.383A>G (p.Asn128Ser)
NM_000784.4(CYP27A1):c.385G>A (p.Asp129Asn)
NM_000784.4(CYP27A1):c.390G>A (p.Met130Ile)
NM_000784.4(CYP27A1):c.393G>A (p.Glu131=) rs911534514
NM_000784.4(CYP27A1):c.394C>T (p.Leu132=) rs1237307385
NM_000784.4(CYP27A1):c.396A>G (p.Leu132=)
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter) rs1559391480
NM_000784.4(CYP27A1):c.39G>A (p.Leu13=) rs2106479059
NM_000784.4(CYP27A1):c.401A>C (p.Lys134Thr)
NM_000784.4(CYP27A1):c.410G>C (p.Arg137Pro)
NM_000784.4(CYP27A1):c.411G>A (p.Arg137=) rs1275203092
NM_000784.4(CYP27A1):c.412G>C (p.Asp138His)
NM_000784.4(CYP27A1):c.417G>A (p.Gln139=)
NM_000784.4(CYP27A1):c.420C>A (p.His140Gln) rs139415581
NM_000784.4(CYP27A1):c.421G>A (p.Asp141Asn)
NM_000784.4(CYP27A1):c.423C>T (p.Asp141=) rs1943692779
NM_000784.4(CYP27A1):c.426G>A (p.Leu142=)
NM_000784.4(CYP27A1):c.426G>T (p.Leu142=)
NM_000784.4(CYP27A1):c.426del (p.Thr143fs) rs2105978931
NM_000784.4(CYP27A1):c.429C>G (p.Thr143=)
NM_000784.4(CYP27A1):c.42A>T (p.Arg14=)
NM_000784.4(CYP27A1):c.433G>A (p.Gly145Arg) rs587778795
NM_000784.4(CYP27A1):c.435G>A (p.Gly145=)
NM_000784.4(CYP27A1):c.437C>T (p.Pro146Leu)
NM_000784.4(CYP27A1):c.440_446+2del rs2105978950
NM_000784.4(CYP27A1):c.444C>T (p.Thr148=) rs2105978956
NM_000784.4(CYP27A1):c.446+10G>A rs200400166
NM_000784.4(CYP27A1):c.446+18G>A
NM_000784.4(CYP27A1):c.446+1G>T rs587778797
NM_000784.4(CYP27A1):c.446+8G>A rs950113577
NM_000784.4(CYP27A1):c.446+9G>T
NM_000784.4(CYP27A1):c.447-12G>T
NM_000784.4(CYP27A1):c.447-13T>G
NM_000784.4(CYP27A1):c.447-15T>C
NM_000784.4(CYP27A1):c.447-1G>A rs2105979879
NM_000784.4(CYP27A1):c.447-3C>A
NM_000784.4(CYP27A1):c.447-4G>T rs2105979874
NM_000784.4(CYP27A1):c.447-8C>A
NM_000784.4(CYP27A1):c.447-8C>G
NM_000784.4(CYP27A1):c.447-9T>A
NM_000784.4(CYP27A1):c.447-9T>C
NM_000784.4(CYP27A1):c.450A>G (p.Glu150=) rs749515902
NM_000784.4(CYP27A1):c.453A>G (p.Gly151=) rs2105979882
NM_000784.4(CYP27A1):c.455A>C (p.His152Pro) rs768932304
NM_000784.4(CYP27A1):c.455A>T (p.His152Leu)
NM_000784.4(CYP27A1):c.456C>T (p.His152=) rs1943723875
NM_000784.4(CYP27A1):c.45G>C (p.Gly15=)
NM_000784.4(CYP27A1):c.45_46del (p.Ala16fs) rs1413976755
NM_000784.4(CYP27A1):c.461G>A (p.Trp154Ter)
NM_000784.4(CYP27A1):c.465C>A (p.Tyr155Ter)
NM_000784.4(CYP27A1):c.465C>T (p.Tyr155=) rs553140875
NM_000784.4(CYP27A1):c.46dup (p.Ala16fs) rs1413976755
NM_000784.4(CYP27A1):c.470T>C (p.Leu157Pro) rs1270373689
NM_000784.4(CYP27A1):c.473G>T (p.Arg158Leu)
NM_000784.4(CYP27A1):c.478G>A (p.Ala160Thr) rs2105979908
NM_000784.4(CYP27A1):c.481C>G (p.Leu161Val) rs759338714
NM_000784.4(CYP27A1):c.48C>A (p.Ala16=) rs2106479063
NM_000784.4(CYP27A1):c.48C>G (p.Ala16=) rs2106479063
NM_000784.4(CYP27A1):c.48C>T (p.Ala16=)
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln) rs148417330
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro) rs148417330
NM_000784.4(CYP27A1):c.492G>T (p.Arg164=) rs2105979919
NM_000784.4(CYP27A1):c.498G>A (p.Leu166=)
NM_000784.4(CYP27A1):c.506C>A (p.Ala169Glu) rs59443548
NM_000784.4(CYP27A1):c.506C>G (p.Ala169Gly) rs59443548
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val) rs59443548
NM_000784.4(CYP27A1):c.506_507delinsA (p.Ala169fs) rs1559392331
NM_000784.4(CYP27A1):c.517C>T (p.Leu173Phe)
NM_000784.4(CYP27A1):c.51C>T (p.Gly17=)
NM_000784.4(CYP27A1):c.522T>C (p.Tyr174=)
NM_000784.4(CYP27A1):c.525G>T (p.Thr175=) rs200506778
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000784.4(CYP27A1):c.52C>T (p.Arg18Cys)
NM_000784.4(CYP27A1):c.530C>T (p.Ala177Val) rs773103625
NM_000784.4(CYP27A1):c.536del (p.Asn179fs)
NM_000784.4(CYP27A1):c.538G>A (p.Glu180Lys) rs1943725580
NM_000784.4(CYP27A1):c.540G>A (p.Glu180=) rs1238433654
NM_000784.4(CYP27A1):c.543G>T (p.Val181=) rs2105979971
NM_000784.4(CYP27A1):c.547del (p.Asp183fs)
NM_000784.4(CYP27A1):c.54T>C (p.Arg18=)
NM_000784.4(CYP27A1):c.550G>A (p.Asp184Asn)
NM_000784.4(CYP27A1):c.555del (p.Phe185fs)
NM_000784.4(CYP27A1):c.559A>G (p.Thr187Ala)
NM_000784.4(CYP27A1):c.55G>A (p.Gly19Ser)
NM_000784.4(CYP27A1):c.563G>T (p.Arg188Leu)
NM_000784.4(CYP27A1):c.564A>T (p.Arg188=) rs2105979989
NM_000784.4(CYP27A1):c.565C>T (p.Leu189=)
NM_000784.4(CYP27A1):c.56G>C (p.Gly19Ala) rs1203579586
NM_000784.4(CYP27A1):c.574C>T (p.Leu192=)
NM_000784.4(CYP27A1):c.577C>A (p.Arg193=)
NM_000784.4(CYP27A1):c.57C>A (p.Gly19=)
NM_000784.4(CYP27A1):c.580G>A (p.Ala194Thr)
NM_000784.4(CYP27A1):c.582A>G (p.Ala194=)
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs) rs758739930
NM_000784.4(CYP27A1):c.590C>G (p.Ala197Gly)
NM_000784.4(CYP27A1):c.594G>C (p.Ser198=)
NM_000784.4(CYP27A1):c.595G>A (p.Gly199Arg) rs2105980019
NM_000784.4(CYP27A1):c.597G>A (p.Gly199=) rs2105980020
NM_000784.4(CYP27A1):c.597G>T (p.Gly199=) rs2105980020
NM_000784.4(CYP27A1):c.5dup (p.Ala3fs) rs587778802
NM_000784.4(CYP27A1):c.606G>A (p.Val202=) rs1451997056
NM_000784.4(CYP27A1):c.606G>T (p.Val202=) rs1451997056
NM_000784.4(CYP27A1):c.624C>A (p.Leu208=)
NM_000784.4(CYP27A1):c.628T>C (p.Tyr210His)
NM_000784.4(CYP27A1):c.630C>T (p.Tyr210=) rs2105980041
NM_000784.4(CYP27A1):c.639C>T (p.Ala213=)
NM_000784.4(CYP27A1):c.639del (p.Leu214fs)
NM_000784.4(CYP27A1):c.63C>T (p.Cys21=) rs781222632
NM_000784.4(CYP27A1):c.641T>C (p.Leu214Ser) rs2105980045
NM_000784.4(CYP27A1):c.642G>A (p.Leu214=)
NM_000784.4(CYP27A1):c.643G>T (p.Glu215Ter) rs761663976
NM_000784.4(CYP27A1):c.646+10C>T
NM_000784.4(CYP27A1):c.646+11T>C
NM_000784.4(CYP27A1):c.646+13G>T
NM_000784.4(CYP27A1):c.646+19G>A
NM_000784.4(CYP27A1):c.646+1G>A
NM_000784.4(CYP27A1):c.646+8T>C
NM_000784.4(CYP27A1):c.646+8del rs1943728243
NM_000784.4(CYP27A1):c.646+9G>C rs760140162
NM_000784.4(CYP27A1):c.647-10C>T
NM_000784.4(CYP27A1):c.647-16T>G
NM_000784.4(CYP27A1):c.647-17C>A
NM_000784.4(CYP27A1):c.647-17C>T rs774331706
NM_000784.4(CYP27A1):c.647-18C>A
NM_000784.4(CYP27A1):c.647-18C>T
NM_000784.4(CYP27A1):c.647-19G>A
NM_000784.4(CYP27A1):c.647-1G>A
NM_000784.4(CYP27A1):c.647-3C>A rs1943729710
NM_000784.4(CYP27A1):c.647-7T>C
NM_000784.4(CYP27A1):c.647-9A>G
NM_000784.4(CYP27A1):c.649A>C (p.Ile217Leu) rs886042256
NM_000784.4(CYP27A1):c.654del (p.Tyr219fs)
NM_000784.4(CYP27A1):c.657C>T (p.Tyr219=) rs1414259537
NM_000784.4(CYP27A1):c.659T>A (p.Ile220Asn) rs1559392536
NM_000784.4(CYP27A1):c.660C>T (p.Ile220=) rs1400244740
NM_000784.4(CYP27A1):c.663G>A (p.Leu221=)
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs) rs755532803
NM_000784.4(CYP27A1):c.667G>C (p.Glu223Gln) rs760323157
NM_000784.4(CYP27A1):c.667G>T (p.Glu223Ter)
NM_000784.4(CYP27A1):c.669G>A (p.Glu223=) rs2105980119
NM_000784.4(CYP27A1):c.66C>G (p.Pro22=) rs1423345815
NM_000784.4(CYP27A1):c.66C>T (p.Pro22=) rs1423345815
NM_000784.4(CYP27A1):c.672A>G (p.Lys224=)
NM_000784.4(CYP27A1):c.674G>T (p.Arg225Leu)
NM_000784.4(CYP27A1):c.675C>T (p.Arg225=)
NM_000784.4(CYP27A1):c.678T>C (p.Ile226=)
NM_000784.4(CYP27A1):c.67dup (p.His23fs) rs1559384522
NM_000784.4(CYP27A1):c.682T>C (p.Cys228Arg) rs1553616268
NM_000784.4(CYP27A1):c.684C>T (p.Cys228=) rs1180200717
NM_000784.4(CYP27A1):c.689dup (p.Arg231fs)
NM_000784.4(CYP27A1):c.692G>A (p.Arg231Gln)
NM_000784.4(CYP27A1):c.693A>T (p.Arg231=) rs1187804477
NM_000784.4(CYP27A1):c.696C>T (p.Ser232=)
NM_000784.4(CYP27A1):c.69_82del (p.His23fs) rs1943398587
NM_000784.4(CYP27A1):c.700C>A (p.Pro234Thr) rs2105980154
NM_000784.4(CYP27A1):c.701C>T (p.Pro234Leu) rs1943733556
NM_000784.4(CYP27A1):c.702C>G (p.Pro234=)
NM_000784.4(CYP27A1):c.702del (p.Glu235fs) rs2105980153
NM_000784.4(CYP27A1):c.706G>A (p.Asp236Asn) rs144068826
NM_000784.4(CYP27A1):c.710C>T (p.Thr237Ile)
NM_000784.4(CYP27A1):c.717C>G (p.Thr239=)
NM_000784.4(CYP27A1):c.717C>T (p.Thr239=)
NM_000784.4(CYP27A1):c.721G>A (p.Val241Ile) rs369660141
NM_000784.4(CYP27A1):c.721G>T (p.Val241Phe)
NM_000784.4(CYP27A1):c.735G>A (p.Gly245=) rs770631614
NM_000784.4(CYP27A1):c.735G>T (p.Gly245=) rs770631614
NM_000784.4(CYP27A1):c.738A>G (p.Leu246=)
NM_000784.4(CYP27A1):c.746A>T (p.Gln249Leu)
NM_000784.4(CYP27A1):c.749A>G (p.Asn250Ser)
NM_000784.4(CYP27A1):c.750C>T (p.Asn250=)
NM_000784.4(CYP27A1):c.751T>C (p.Ser251Pro)
NM_000784.4(CYP27A1):c.753_754del (p.Tyr253fs) rs1559392634
NM_000784.4(CYP27A1):c.756C>A (p.Leu252=) rs1559392636
NM_000784.4(CYP27A1):c.758A>G (p.Tyr253Cys)
NM_000784.4(CYP27A1):c.759T>C (p.Tyr253=) rs2105980208
NM_000784.4(CYP27A1):c.75C>G (p.Ala25=)
NM_000784.4(CYP27A1):c.765C>G (p.Thr255=) rs1431924945
NM_000784.4(CYP27A1):c.765C>T (p.Thr255=) rs1431924945
NM_000784.4(CYP27A1):c.765_766del (p.Phe256fs) rs2105980214
NM_000784.4(CYP27A1):c.767T>G (p.Phe256Cys) rs2105980216
NM_000784.4(CYP27A1):c.769C>T (p.Leu257Phe) rs763461546
NM_000784.4(CYP27A1):c.777G>A (p.Lys259=)
NM_000784.4(CYP27A1):c.785G>A (p.Arg262His) rs757682669
NM_000784.4(CYP27A1):c.785G>T (p.Arg262Leu) rs757682669
NM_000784.4(CYP27A1):c.786C>T (p.Arg262=)
NM_000784.4(CYP27A1):c.794T>C (p.Leu265Pro)
NM_000784.4(CYP27A1):c.795G>A (p.Leu265=)
NM_000784.4(CYP27A1):c.798T>C (p.Pro266=) rs1575206137
NM_000784.4(CYP27A1):c.79dup (p.Ala27fs)
NM_000784.4(CYP27A1):c.801C>T (p.Phe267=) rs2105980247
NM_000784.4(CYP27A1):c.802T>C (p.Trp268Arg) rs535323883
NM_000784.4(CYP27A1):c.803G>A (p.Trp268Ter) rs1943736070
NM_000784.4(CYP27A1):c.804G>T (p.Trp268Cys) rs1943736101
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter) rs72551318
NM_000784.4(CYP27A1):c.813C>G (p.Tyr271Ter) rs532134925
NM_000784.4(CYP27A1):c.813C>T (p.Tyr271=) rs532134925
NM_000784.4(CYP27A1):c.816G>C (p.Leu272=)
NM_000784.4(CYP27A1):c.816G>T (p.Leu272=)
NM_000784.4(CYP27A1):c.819del (p.Asp273fs) rs587778812
NM_000784.4(CYP27A1):c.821G>C (p.Gly274Ala) rs1167915356
NM_000784.4(CYP27A1):c.825G>A (p.Trp275Ter)
NM_000784.4(CYP27A1):c.828T>G (p.Asn276Lys) rs774999308
NM_000784.4(CYP27A1):c.831C>T (p.Ala277=)
NM_000784.4(CYP27A1):c.834C>A (p.Ile278=)
NM_000784.4(CYP27A1):c.844+10C>T
NM_000784.4(CYP27A1):c.844+13A>T
NM_000784.4(CYP27A1):c.844+14G>C
NM_000784.4(CYP27A1):c.844+1G>A rs397515354
NM_000784.4(CYP27A1):c.844+1G>T
NM_000784.4(CYP27A1):c.844+4A>G rs1016174396
NM_000784.4(CYP27A1):c.844+5_844+6insATGTGGTGAGAGTCTGAGAGGACTTTCCTTTGGTGAGAGTCTGAGAG
NM_000784.4(CYP27A1):c.844+6G>A rs1943737223
NM_000784.4(CYP27A1):c.844+9T>G
NM_000784.4(CYP27A1):c.845-10G>A
NM_000784.4(CYP27A1):c.845-12T>C
NM_000784.4(CYP27A1):c.845-13G>A rs1398037639
NM_000784.4(CYP27A1):c.845-1G>C
NM_000784.4(CYP27A1):c.845-6T>C rs2105980379
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter) rs1057519469
NM_000784.4(CYP27A1):c.851A>G (p.Lys284Arg)
NM_000784.4(CYP27A1):c.855G>A (p.Leu285=)
NM_000784.4(CYP27A1):c.855G>T (p.Leu285=)
NM_000784.4(CYP27A1):c.858T>C (p.Ile286=) rs2105980390
NM_000784.4(CYP27A1):c.85G>A (p.Ala29Thr)
NM_000784.4(CYP27A1):c.861T>C (p.Asp287=) rs762359911
NM_000784.4(CYP27A1):c.862G>A (p.Glu288Lys) rs2105980394
NM_000784.4(CYP27A1):c.864G>A (p.Glu288=)
NM_000784.4(CYP27A1):c.868C>T (p.Leu290Phe) rs2105980402
NM_000784.4(CYP27A1):c.869T>C (p.Leu290Pro)
NM_000784.4(CYP27A1):c.870C>G (p.Leu290=) rs202136743
NM_000784.4(CYP27A1):c.876T>C (p.Asp292=)
NM_000784.4(CYP27A1):c.877A>T (p.Met293Leu) rs1412455358
NM_000784.4(CYP27A1):c.87C>T (p.Ala29=) rs1310841339
NM_000784.4(CYP27A1):c.884C>A (p.Ala295Asp)
NM_000784.4(CYP27A1):c.884C>T (p.Ala295Val) rs1417655712
NM_000784.4(CYP27A1):c.903G>C (p.Gly301=) rs2105980427
NM_000784.4(CYP27A1):c.903G>T (p.Gly301=)
NM_000784.4(CYP27A1):c.905C>A (p.Pro302Gln)
NM_000784.4(CYP27A1):c.909T>C (p.Asp303=) rs1316018823
NM_000784.4(CYP27A1):c.912C>T (p.Gly304=)
NM_000784.4(CYP27A1):c.917A>G (p.Gln306Arg)
NM_000784.4(CYP27A1):c.918G>A (p.Gln306=)
NM_000784.4(CYP27A1):c.923C>T (p.Ser308Phe) rs2105980439
NM_000784.4(CYP27A1):c.931C>T (p.Leu311=)
NM_000784.4(CYP27A1):c.932T>A (p.Leu311Gln)
NM_000784.4(CYP27A1):c.933G>A (p.Leu311=)
NM_000784.4(CYP27A1):c.935A>C (p.His312Pro) rs1275856308
NM_000784.4(CYP27A1):c.939C>T (p.Phe313=)
NM_000784.4(CYP27A1):c.942A>T (p.Leu314Phe)
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs) rs397515356
NM_000784.4(CYP27A1):c.955C>T (p.Gln319Ter) rs1943741125
NM_000784.4(CYP27A1):c.957G>A (p.Gln319=) rs1943741154
NM_000784.4(CYP27A1):c.970G>A (p.Glu324Lys) rs2105980462
NM_000784.4(CYP27A1):c.975C>T (p.Ala325=) rs2105980465
NM_000784.4(CYP27A1):c.976A>G (p.Met326Val)
NM_000784.4(CYP27A1):c.978G>A (p.Met326Ile)
NM_000784.4(CYP27A1):c.97G>A (p.Ala33Thr) rs1275043449
NM_000784.4(CYP27A1):c.981C>A (p.Gly327=) rs1400093675
NM_000784.4(CYP27A1):c.984C>T (p.Ser328=)
NM_000784.4(CYP27A1):c.987G>A (p.Leu329=) rs2105980473
NM_000784.4(CYP27A1):c.987G>C (p.Leu329=)
NM_000784.4(CYP27A1):c.988C>T (p.Pro330Ser) rs1399829248
NM_000784.4(CYP27A1):c.995T>G (p.Leu332Arg)
NM_000784.4(CYP27A1):c.996G>T (p.Leu332=)
NM_000784.4(CYP27A1):c.99C>T (p.Ala33=) rs967210940
NM_000784.4(CYP27A1):c.9G>A (p.Ala3=)
NM_000784.4(CYP27A1):c.9G>T (p.Ala3=) rs971599666
NM_000784.4(CYP27A1):c.9_10delinsAA (p.Leu4Met)
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_001042432.2(CLN3):c.1003T>C (p.Ser335Pro) rs1567257016
NM_001042432.2(CLN3):c.1017C>T (p.Cys339=) rs768479701
NM_001042432.2(CLN3):c.1019G>A (p.Cys340Tyr) rs1174122334
NM_001042432.2(CLN3):c.101A>T (p.His34Leu)
NM_001042432.2(CLN3):c.1023C>T (p.Arg341=) rs2141702659
NM_001042432.2(CLN3):c.1032C>T (p.Phe344=)
NM_001042432.2(CLN3):c.1035C>T (p.Thr345=) rs2141702596
NM_001042432.2(CLN3):c.1043T>C (p.Leu348Pro)
NM_001042432.2(CLN3):c.1046C>T (p.Ala349Val) rs2141702560
NM_001042432.2(CLN3):c.1048C>T (p.Leu350=) rs1319505147
NM_001042432.2(CLN3):c.1048del (p.Leu350fs) rs386833696
NM_001042432.2(CLN3):c.1050G>C (p.Leu350=)
NM_001042432.2(CLN3):c.1050_1056+19del
NM_001042432.2(CLN3):c.1056+10C>G rs2141702486
NM_001042432.2(CLN3):c.1056+12C>G
NM_001042432.2(CLN3):c.1056+16C>A
NM_001042432.2(CLN3):c.1056+16C>T
NM_001042432.2(CLN3):c.1056+18C>T
NM_001042432.2(CLN3):c.1056+1G>A
NM_001042432.2(CLN3):c.1056+1G>T rs1217725909
NM_001042432.2(CLN3):c.1056+20C>T
NM_001042432.2(CLN3):c.1056+3A>C rs386833698
NM_001042432.2(CLN3):c.1056+5C>A
NM_001042432.2(CLN3):c.1056+6A>G rs2141702501
NM_001042432.2(CLN3):c.1056G>T (p.Gln352His) rs386833699
NM_001042432.2(CLN3):c.1057-11C>A
NM_001042432.2(CLN3):c.1057-11C>G rs189498501
NM_001042432.2(CLN3):c.1057-11C>T rs189498501
NM_001042432.2(CLN3):c.1057-12C>T
NM_001042432.2(CLN3):c.1057-14C>A rs773692029
NM_001042432.2(CLN3):c.1057-14C>G
NM_001042432.2(CLN3):c.1057-14C>T
NM_001042432.2(CLN3):c.1057-17T>A
NM_001042432.2(CLN3):c.1057-18C>A rs554430803
NM_001042432.2(CLN3):c.1057-18C>T rs554430803
NM_001042432.2(CLN3):c.1057-19C>T
NM_001042432.2(CLN3):c.1057-1G>A
NM_001042432.2(CLN3):c.1057-2A>G rs1218568487
NM_001042432.2(CLN3):c.1057-5C>G
NM_001042432.2(CLN3):c.1057-9del rs1288269632
NM_001042432.2(CLN3):c.1058G>A (p.Cys353Tyr)
NM_001042432.2(CLN3):c.1058G>T (p.Cys353Phe)
NM_001042432.2(CLN3):c.1059C>A (p.Cys353Ter) rs1057516677
NM_001042432.2(CLN3):c.105G>A (p.Trp35Ter) rs386833700
NM_001042432.2(CLN3):c.105del (p.His34_Trp35insTer) rs2141721909
NM_001042432.2(CLN3):c.1065C>T (p.Asn355=) rs1567254120
NM_001042432.2(CLN3):c.1069G>T (p.Val357Leu) rs1567254103
NM_001042432.2(CLN3):c.1071G>A (p.Val357=)
NM_001042432.2(CLN3):c.1071G>T (p.Val357=) rs146467602
NM_001042432.2(CLN3):c.1075del (p.Leu359fs) rs2046023126
NM_001042432.2(CLN3):c.1084G>A (p.Asp362Asn) rs2046022965
NM_001042432.2(CLN3):c.1086C>T (p.Asp362=) rs376907245
NM_001042432.2(CLN3):c.1088T>G (p.Val363Gly)
NM_001042432.2(CLN3):c.1089G>T (p.Val363=) rs2141694310
NM_001042432.2(CLN3):c.1096G>A (p.Gly366Ser) rs772209464
NM_001042432.2(CLN3):c.1097G>T (p.Gly366Val) rs371214018
NM_001042432.2(CLN3):c.1099T>C (p.Phe367Leu)
NM_001042432.2(CLN3):c.1107A>C (p.Pro369=) rs2141694275
NM_001042432.2(CLN3):c.1107A>G (p.Pro369=)
NM_001042432.2(CLN3):c.1108A>G (p.Ser370Gly) rs2141694271
NM_001042432.2(CLN3):c.1110C>T (p.Ser370=)
NM_001042432.2(CLN3):c.1113C>T (p.Ile371=) rs2141694259
NM_001042432.2(CLN3):c.1115_1118dup (p.Val374fs)
NM_001042432.2(CLN3):c.1117C>T (p.Leu373Phe)
NM_001042432.2(CLN3):c.111C>G (p.Asn37Lys)
NM_001042432.2(CLN3):c.1121T>C (p.Val374Ala) rs1596619733
NM_001042432.2(CLN3):c.1122C>T (p.Val374=)
NM_001042432.2(CLN3):c.1125C>T (p.Phe375=)
NM_001042432.2(CLN3):c.1126C>T (p.Leu376=) rs2141694207
NM_001042432.2(CLN3):c.1128G>A (p.Leu376=)
NM_001042432.2(CLN3):c.1128G>T (p.Leu376=)
NM_001042432.2(CLN3):c.1137G>C (p.Leu379=)
NM_001042432.2(CLN3):c.1138T>C (p.Tyr380His)
NM_001042432.2(CLN3):c.1143G>A (p.Glu381=)
NM_001042432.2(CLN3):c.1146G>T (p.Gly382=) rs1567253962
NM_001042432.2(CLN3):c.1147C>T (p.Leu383Phe)
NM_001042432.2(CLN3):c.1149C>T (p.Leu383=) rs2046021695
NM_001042432.2(CLN3):c.114G>A (p.Ala38=) rs1596567632
NM_001042432.2(CLN3):c.1150C>T (p.Leu384=) rs1057521416
NM_001042432.2(CLN3):c.1152G>A (p.Leu384=)
NM_001042432.2(CLN3):c.1160C>T (p.Ala387Val) rs2141694140
NM_001042432.2(CLN3):c.1161A>G (p.Ala387=) rs2141694138
NM_001042432.2(CLN3):c.1162G>A (p.Ala388Thr)
NM_001042432.2(CLN3):c.1164C>A (p.Ala388=) rs772463617
NM_001042432.2(CLN3):c.1166A>T (p.Tyr389Phe)
NM_001042432.2(CLN3):c.1173C>T (p.Asn391=) rs1334200732
NM_001042432.2(CLN3):c.1178T>A (p.Phe393Tyr) rs2141694088
NM_001042432.2(CLN3):c.117G>A (p.Val39=) rs2141721859
NM_001042432.2(CLN3):c.1181A>G (p.His394Arg)
NM_001042432.2(CLN3):c.1183A>G (p.Asn395Asp) rs2141694073
NM_001042432.2(CLN3):c.1184A>T (p.Asn395Ile) rs2046020900
NM_001042432.2(CLN3):c.1185C>T (p.Asn395=) rs747968377
NM_001042432.2(CLN3):c.1189G>A (p.Ala397Thr)
NM_001042432.2(CLN3):c.1192C>T (p.Leu398=)
NM_001042432.2(CLN3):c.1194G>A (p.Leu398=)
NM_001042432.2(CLN3):c.1197+10G>A rs2141693994
NM_001042432.2(CLN3):c.1197+11G>T
NM_001042432.2(CLN3):c.1197+13C>A rs370103287
NM_001042432.2(CLN3):c.1197+13C>G rs370103287
NM_001042432.2(CLN3):c.1197+15G>T
NM_001042432.2(CLN3):c.1197+16G>A
NM_001042432.2(CLN3):c.1197+17C>G rs2046020001
NM_001042432.2(CLN3):c.1197+18A>G
NM_001042432.2(CLN3):c.1197+1G>A
NM_001042432.2(CLN3):c.1197+8T>C rs587780895
NM_001042432.2(CLN3):c.1198-10G>A rs750043205
NM_001042432.2(CLN3):c.1198-10G>T rs750043205
NM_001042432.2(CLN3):c.1198-16C>G
NM_001042432.2(CLN3):c.1198-17G>A rs749612121
NM_001042432.2(CLN3):c.1198-19C>G
NM_001042432.2(CLN3):c.1198-19C>T
NM_001042432.2(CLN3):c.1198-2A>C rs2141693746
NM_001042432.2(CLN3):c.1198-3C>T rs2046017696
NM_001042432.2(CLN3):c.1198-4C>G
NM_001042432.2(CLN3):c.1198-7C>T rs1046047290
NM_001042432.2(CLN3):c.1198-8C>A
NM_001042432.2(CLN3):c.1198-9C>T rs2141693767
NM_001042432.2(CLN3):c.1200C>A (p.Thr400=) rs754270222
NM_001042432.2(CLN3):c.1204G>A (p.Asp402Asn)
NM_001042432.2(CLN3):c.120C>G (p.Gly40=)
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_001042432.2(CLN3):c.1210C>T (p.His404Tyr) rs146610181
NM_001042432.2(CLN3):c.1215G>C (p.Arg405=) rs2141693673
NM_001042432.2(CLN3):c.1231G>T (p.Ala411Ser)
NM_001042432.2(CLN3):c.1236C>T (p.Thr412=)
NM_001042432.2(CLN3):c.1246_1247dup (p.Asp416fs)
NM_001042432.2(CLN3):c.125+13A>C rs2141721778
NM_001042432.2(CLN3):c.125+16C>T rs2141721774
NM_001042432.2(CLN3):c.125+19C>A
NM_001042432.2(CLN3):c.125+1G>C rs775616181
NM_001042432.2(CLN3):c.125+9C>A
NM_001042432.2(CLN3):c.125+9C>G rs770630584
NM_001042432.2(CLN3):c.126-11G>A
NM_001042432.2(CLN3):c.126-11G>C
NM_001042432.2(CLN3):c.126-14C>T
NM_001042432.2(CLN3):c.126-16G>A
NM_001042432.2(CLN3):c.126-18C>T
NM_001042432.2(CLN3):c.126-4C>A rs1555469191
NM_001042432.2(CLN3):c.126-9T>C
NM_001042432.2(CLN3):c.1263C>T (p.Ser421=) rs2141693533
NM_001042432.2(CLN3):c.1265T>C (p.Leu422Pro) rs2046014482
NM_001042432.2(CLN3):c.1266G>A (p.Leu422=)
NM_001042432.2(CLN3):c.1267dup (p.Ser423fs)
NM_001042432.2(CLN3):c.126G>A (p.Trp42Ter)
NM_001042432.2(CLN3):c.1272G>A (p.Gly424=) rs2141693473
NM_001042432.2(CLN3):c.1276C>G (p.Leu426Val) rs1596619187
NM_001042432.2(CLN3):c.127C>T (p.Leu43=) rs2141718228
NM_001042432.2(CLN3):c.1284G>A (p.Leu428=) rs1178380195
NM_001042432.2(CLN3):c.1285C>T (p.Pro429Ser) rs1433950864
NM_001042432.2(CLN3):c.1288C>T (p.Leu430=) rs2141693434
NM_001042432.2(CLN3):c.1291C>T (p.His431Tyr) rs759510380
NM_001042432.2(CLN3):c.1293T>C (p.His431=)
NM_001042432.2(CLN3):c.1302C>A (p.Leu434=) rs1264449890
NM_001042432.2(CLN3):c.1316G>A (p.Ter439=) rs2046012606
NM_001042432.2(CLN3):c.136C>G (p.Leu46Val)
NM_001042432.2(CLN3):c.141del (p.Leu46_Cys47insTer) rs1064795153
NM_001042432.2(CLN3):c.143A>G (p.Asn48Ser)
NM_001042432.2(CLN3):c.143A>T (p.Asn48Ile)
NM_001042432.2(CLN3):c.145A>C (p.Asn49His)
NM_001042432.2(CLN3):c.147C>G (p.Asn49Lys) rs571216643
NM_001042432.2(CLN3):c.156T>C (p.Tyr52=) rs758454511
NM_001042432.2(CLN3):c.159G>A (p.Val53=) rs2046275556
NM_001042432.2(CLN3):c.15A>T (p.Ala5=) rs2141722763
NM_001042432.2(CLN3):c.162G>A (p.Val54=)
NM_001042432.2(CLN3):c.162G>T (p.Val54=)
NM_001042432.2(CLN3):c.166C>T (p.Leu56=)
NM_001042432.2(CLN3):c.170G>A (p.Ser57Asn)
NM_001042432.2(CLN3):c.177C>T (p.Ala59=) rs1266595846
NM_001042432.2(CLN3):c.18C>A (p.Gly6=) rs2141722748
NM_001042432.2(CLN3):c.18del (p.Ser7fs)
NM_001042432.2(CLN3):c.191G>A (p.Ser64Asn) rs2046274351
NM_001042432.2(CLN3):c.196A>C (p.Lys66Gln)
NM_001042432.2(CLN3):c.1A>C (p.Met1Leu) rs386833708
NM_001042432.2(CLN3):c.204A>G (p.Thr68=) rs1001999703
NM_001042432.2(CLN3):c.206C>G (p.Ser69Trp) rs769840061
NM_001042432.2(CLN3):c.213C>T (p.Asn71=) rs1460944418
NM_001042432.2(CLN3):c.214_216del (p.Gln72del) rs1473036975
NM_001042432.2(CLN3):c.218G>A (p.Ser73Asn)
NM_001042432.2(CLN3):c.21G>C (p.Ser7=) rs1313480778
NM_001042432.2(CLN3):c.222+11C>G
NM_001042432.2(CLN3):c.222+13C>T
NM_001042432.2(CLN3):c.222+14T>A
NM_001042432.2(CLN3):c.222+17C>T
NM_001042432.2(CLN3):c.222+18A>G
NM_001042432.2(CLN3):c.222+19C>T
NM_001042432.2(CLN3):c.222+1G>A
NM_001042432.2(CLN3):c.222+20C>T
NM_001042432.2(CLN3):c.222+5G>C rs386833711
NM_001042432.2(CLN3):c.222+7G>A
NM_001042432.2(CLN3):c.222+9C>G rs2046272964
NM_001042432.2(CLN3):c.222+9CT[2] rs1064794997
NM_001042432.2(CLN3):c.223-10C>G
NM_001042432.2(CLN3):c.223-15C>T
NM_001042432.2(CLN3):c.223-16G>A
NM_001042432.2(CLN3):c.223-18A>G
NM_001042432.2(CLN3):c.223-18A>T
NM_001042432.2(CLN3):c.223-6del
NM_001042432.2(CLN3):c.223-7C>T rs1489180288
NM_001042432.2(CLN3):c.223-8C>T rs973448262
NM_001042432.2(CLN3):c.228C>T (p.Asp76=)
NM_001042432.2(CLN3):c.233dup (p.Thr80fs) rs386833712
NM_001042432.2(CLN3):c.236C>T (p.Pro79Leu) rs1596564333
NM_001042432.2(CLN3):c.237A>G (p.Pro79=) rs2141717144
NM_001042432.2(CLN3):c.238A>G (p.Thr80Ala) rs150348015
NM_001042432.2(CLN3):c.23G>A (p.Arg8Gln)
NM_001042432.2(CLN3):c.243G>C (p.Pro81=) rs779165392
NM_001042432.2(CLN3):c.248C>T (p.Pro83Leu)
NM_001042432.2(CLN3):c.251A>G (p.His84Arg) rs2046262515
NM_001042432.2(CLN3):c.255C>T (p.Asn85=) rs1173380097
NM_001042432.2(CLN3):c.258C>T (p.Ser86=) rs1596564281
NM_001042432.2(CLN3):c.260C>T (p.Ser87Leu) rs2141717001
NM_001042432.2(CLN3):c.261A>T (p.Ser87=) rs2046262190
NM_001042432.2(CLN3):c.264A>G (p.Ser88=) rs751321507
NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter) rs386833713
NM_001042432.2(CLN3):c.266G>T (p.Arg89Leu) rs766287694
NM_001042432.2(CLN3):c.270T>C (p.Phe90=) rs145520962
NM_001042432.2(CLN3):c.270T>G (p.Phe90Leu) rs145520962
NM_001042432.2(CLN3):c.273C>T (p.Asp91=) rs1213121886
NM_001042432.2(CLN3):c.276C>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.288T>A (p.Ser96=) rs1555469051
NM_001042432.2(CLN3):c.293C>A (p.Ala98Asp) rs1361279384
NM_001042432.2(CLN3):c.293C>T (p.Ala98Val)
NM_001042432.2(CLN3):c.294+10C>G rs367693072
NM_001042432.2(CLN3):c.294+10C>T rs367693072
NM_001042432.2(CLN3):c.294+17C>T
NM_001042432.2(CLN3):c.294+4C>T
NM_001042432.2(CLN3):c.294+7A>G rs2141716762
NM_001042432.2(CLN3):c.294+8C>T
NM_001042432.2(CLN3):c.294+8_294+10inv
NM_001042432.2(CLN3):c.294+9T>C
NM_001042432.2(CLN3):c.295-12C>T rs2141715293
NM_001042432.2(CLN3):c.295-13T>A rs796052333
NM_001042432.2(CLN3):c.295-17C>G rs375311626
NM_001042432.2(CLN3):c.295-17del
NM_001042432.2(CLN3):c.295-18T>C
NM_001042432.2(CLN3):c.295-19C>T
NM_001042432.2(CLN3):c.295-5C>T
NM_001042432.2(CLN3):c.295-7G>A
NM_001042432.2(CLN3):c.295-7G>T
NM_001042432.2(CLN3):c.29G>A (p.Arg10His)
NM_001042432.2(CLN3):c.304C>G (p.Leu102Val) rs1167562278
NM_001042432.2(CLN3):c.306G>A (p.Leu102=)
NM_001042432.2(CLN3):c.307G>A (p.Ala103Thr)
NM_001042432.2(CLN3):c.30del (p.Ser12fs) rs2141722729
NM_001042432.2(CLN3):c.312C>T (p.Asp104=) rs1596563212
NM_001042432.2(CLN3):c.313A>T (p.Ile105Phe)
NM_001042432.2(CLN3):c.317dup (p.Thr108fs)
NM_001042432.2(CLN3):c.320C>G (p.Pro107Arg)
NM_001042432.2(CLN3):c.320C>T (p.Pro107Leu) rs1231056238
NM_001042432.2(CLN3):c.321C>A (p.Pro107=)
NM_001042432.2(CLN3):c.322A>G (p.Thr108Ala) rs1302804526
NM_001042432.2(CLN3):c.323C>T (p.Thr108Ile)
NM_001042432.2(CLN3):c.324A>G (p.Thr108=) rs2046245530
NM_001042432.2(CLN3):c.326T>C (p.Leu109Pro)
NM_001042432.2(CLN3):c.354C>T (p.Gly118=)
NM_001042432.2(CLN3):c.358C>A (p.His120Asn) rs145749864
NM_001042432.2(CLN3):c.358C>T (p.His120Tyr)
NM_001042432.2(CLN3):c.360C>T (p.His120=)
NM_001042432.2(CLN3):c.362T>G (p.Leu121Arg) rs2046244488
NM_001042432.2(CLN3):c.366G>A (p.Leu122=)
NM_001042432.2(CLN3):c.367C>T (p.Pro123Ser) rs1567261702
NM_001042432.2(CLN3):c.36G>C (p.Ser12=)
NM_001042432.2(CLN3):c.370dup (p.Tyr124fs) rs386833715
NM_001042432.2(CLN3):c.374+14T>C rs528885790
NM_001042432.2(CLN3):c.374+15A>G rs1160399050
NM_001042432.2(CLN3):c.374+16G>T rs2141714919
NM_001042432.2(CLN3):c.374+1G>A rs2046243804
NM_001042432.2(CLN3):c.374+7G>A rs2141714955
NM_001042432.2(CLN3):c.374+7G>C rs2141714955
NM_001042432.2(CLN3):c.374G>A (p.Ser125Asn) rs386833716
NM_001042432.2(CLN3):c.375-11C>A
NM_001042432.2(CLN3):c.375-11C>T rs1039039106
NM_001042432.2(CLN3):c.375-13C>A rs747701616
NM_001042432.2(CLN3):c.375-19_375-4dup rs755313503
NM_001042432.2(CLN3):c.375-2A>T rs2046240661
NM_001042432.2(CLN3):c.375-4del rs2141714611
NM_001042432.2(CLN3):c.375-5C>G rs751293136
NM_001042432.2(CLN3):c.375-5del
NM_001042432.2(CLN3):c.375-5dup
NM_001042432.2(CLN3):c.375-6C>A
NM_001042432.2(CLN3):c.375-8C>T rs2141714646
NM_001042432.2(CLN3):c.378C>T (p.Pro126=) rs1596562865
NM_001042432.2(CLN3):c.379del (p.Arg127fs) rs386833717
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.392del (p.Ser131fs) rs2141714500
NM_001042432.2(CLN3):c.393T>C (p.Ser131=) rs794727850
NM_001042432.2(CLN3):c.396G>A (p.Gly132=)
NM_001042432.2(CLN3):c.397A>T (p.Ile133Phe) rs1295659689
NM_001042432.2(CLN3):c.3G>A (p.Met1Ile)
NM_001042432.2(CLN3):c.400T>C (p.Cys134Arg) rs386833719
NM_001042432.2(CLN3):c.403G>A (p.Ala135Thr) rs1314360861
NM_001042432.2(CLN3):c.406G>T (p.Ala136Ser) rs2046239467
NM_001042432.2(CLN3):c.411A>G (p.Gly137=) rs2141714445
NM_001042432.2(CLN3):c.413del (p.Ser138fs)
NM_001042432.2(CLN3):c.414C>T (p.Ser138=) rs772960606
NM_001042432.2(CLN3):c.419T>C (p.Val140Ala)
NM_001042432.2(CLN3):c.41C>T (p.Ser14Phe) rs2141722690
NM_001042432.2(CLN3):c.420C>A (p.Val140=)
NM_001042432.2(CLN3):c.421C>G (p.Leu141Val) rs2141714404
NM_001042432.2(CLN3):c.422T>C (p.Leu141Pro) rs2046239033
NM_001042432.2(CLN3):c.423G>C (p.Leu141=) rs1426849822
NM_001042432.2(CLN3):c.424del (p.Val142fs) rs386833720
NM_001042432.2(CLN3):c.427G>A (p.Ala143Thr) rs904694610
NM_001042432.2(CLN3):c.42C>A (p.Ser14=)
NM_001042432.2(CLN3):c.433T>C (p.Ser145Pro) rs780814580
NM_001042432.2(CLN3):c.439T>G (p.Ser147Ala) rs2141714357
NM_001042432.2(CLN3):c.43G>A (p.Glu15Lys)
NM_001042432.2(CLN3):c.43G>T (p.Glu15Ter) rs1228953213
NM_001042432.2(CLN3):c.443_445del (p.Val148del) rs752130042
NM_001042432.2(CLN3):c.447G>A (p.Gly149=)
NM_001042432.2(CLN3):c.450C>T (p.Thr150=)
NM_001042432.2(CLN3):c.451A>T (p.Ser151Cys) rs2141714276
NM_001042432.2(CLN3):c.458G>A (p.Cys153Tyr) rs750813350
NM_001042432.2(CLN3):c.46+10C>T rs1596568060
NM_001042432.2(CLN3):c.46+11C>G
NM_001042432.2(CLN3):c.46+11C>T rs1274196955
NM_001042432.2(CLN3):c.46+12C>A
NM_001042432.2(CLN3):c.46+12C>T
NM_001042432.2(CLN3):c.46+13G>T rs532377265
NM_001042432.2(CLN3):c.46+14C>T
NM_001042432.2(CLN3):c.46+15C>T
NM_001042432.2(CLN3):c.46+16C>A
NM_001042432.2(CLN3):c.46+16C>T
NM_001042432.2(CLN3):c.46+1G>A rs1057516343
NM_001042432.2(CLN3):c.46+5G>A
NM_001042432.2(CLN3):c.46+7A>G rs2141722628
NM_001042432.2(CLN3):c.46+9T>C
NM_001042432.2(CLN3):c.460+10T>C
NM_001042432.2(CLN3):c.460+12G>A
NM_001042432.2(CLN3):c.460+12G>C
NM_001042432.2(CLN3):c.460+12G>T
NM_001042432.2(CLN3):c.460+16T>C
NM_001042432.2(CLN3):c.460+17G>A
NM_001042432.2(CLN3):c.460+1G>A rs1397086223
NM_001042432.2(CLN3):c.460+20T>A
NM_001042432.2(CLN3):c.460+2T>G
NM_001042432.2(CLN3):c.460+7G>A
NM_001042432.2(CLN3):c.460+9G>A rs2141714258
NM_001042432.2(CLN3):c.461-11C>G
NM_001042432.2(CLN3):c.461-19G>C
NM_001042432.2(CLN3):c.461-1G>A rs386833722
NM_001042432.2(CLN3):c.461-2A>G
NM_001042432.2(CLN3):c.461-3C>G rs181995380
NM_001042432.2(CLN3):c.461-3C>T rs181995380
NM_001042432.2(CLN3):c.461-3del rs766754807
NM_001042432.2(CLN3):c.461-3dup
NM_001042432.2(CLN3):c.461-4C>G rs1006236175
NM_001042432.2(CLN3):c.461-5C>G rs779793979
NM_001042432.2(CLN3):c.461-5C>T rs779793979
NM_001042432.2(CLN3):c.461-6C>T
NM_001042432.2(CLN3):c.461-7C>T rs1036844453
NM_001042432.2(CLN3):c.461-8C>A rs897938562
NM_001042432.2(CLN3):c.466G>C (p.Val156Leu)
NM_001042432.2(CLN3):c.47-2A>T
NM_001042432.2(CLN3):c.47-4C>G
NM_001042432.2(CLN3):c.47-4C>T rs1555469480
NM_001042432.2(CLN3):c.47-5C>G
NM_001042432.2(CLN3):c.47-7C>G rs776361372
NM_001042432.2(CLN3):c.47-8T>C rs1596567778
NM_001042432.2(CLN3):c.472G>A (p.Ala158Thr) rs386833723
NM_001042432.2(CLN3):c.482C>T (p.Ser161Leu) rs386833724
NM_001042432.2(CLN3):c.483A>G (p.Ser161=)
NM_001042432.2(CLN3):c.490C>G (p.Leu164Val)
NM_001042432.2(CLN3):c.492T>C (p.Leu164=)
NM_001042432.2(CLN3):c.497A>G (p.Glu166Gly) rs2141712916
NM_001042432.2(CLN3):c.500T>A (p.Val167Asp) rs1418465028
NM_001042432.2(CLN3):c.501C>T (p.Val167=) rs2141712899
NM_001042432.2(CLN3):c.505T>G (p.Phe169Val) rs1392387565
NM_001042432.2(CLN3):c.510C>T (p.Leu170=)
NM_001042432.2(CLN3):c.512C>T (p.Ser171Phe) rs1401497994
NM_001042432.2(CLN3):c.513C>T (p.Ser171=) rs1384593542
NM_001042432.2(CLN3):c.522C>T (p.Ala174=)
NM_001042432.2(CLN3):c.526T>C (p.Tyr176His) rs1191755724
NM_001042432.2(CLN3):c.528C>T (p.Tyr176=)
NM_001042432.2(CLN3):c.530C>T (p.Pro177Leu)
NM_001042432.2(CLN3):c.533+11G>A
NM_001042432.2(CLN3):c.533+12G>A
NM_001042432.2(CLN3):c.533+12G>T
NM_001042432.2(CLN3):c.533+15C>T
NM_001042432.2(CLN3):c.533+19del
NM_001042432.2(CLN3):c.533+1G>C rs386833728
NM_001042432.2(CLN3):c.533+3_533+10del rs2141712782
NM_001042432.2(CLN3):c.533+6C>T rs2141712792
NM_001042432.2(CLN3):c.534-17T>C
NM_001042432.2(CLN3):c.534-1G>C
NM_001042432.2(CLN3):c.534-20T>A rs1209961868
NM_001042432.2(CLN3):c.534-2A>G rs2046221354
NM_001042432.2(CLN3):c.534-5C>T
NM_001042432.2(CLN3):c.537C>G (p.Ala179=) rs147667964
NM_001042432.2(CLN3):c.538G>C (p.Val180Leu) rs202215629
NM_001042432.2(CLN3):c.53A>G (p.Glu18Gly) rs2046314460
NM_001042432.2(CLN3):c.540G>T (p.Val180=)
NM_001042432.2(CLN3):c.54G>T (p.Glu18Asp) rs2141722130
NM_001042432.2(CLN3):c.551G>A (p.Trp184Ter)
NM_001042432.2(CLN3):c.552G>A (p.Trp184Ter)
NM_001042432.2(CLN3):c.554C>T (p.Ser185Phe) rs2046221010
NM_001042432.2(CLN3):c.558_559del (p.Gly187fs) rs386833729
NM_001042432.2(CLN3):c.560G>A (p.Gly187Glu)
NM_001042432.2(CLN3):c.564T>C (p.Thr188=)
NM_001042432.2(CLN3):c.564T>G (p.Thr188=)
NM_001042432.2(CLN3):c.565G>A (p.Gly189Arg) rs386833731
NM_001042432.2(CLN3):c.565G>C (p.Gly189Arg) rs386833731
NM_001042432.2(CLN3):c.569dup (p.Ala191fs) rs386833732
NM_001042432.2(CLN3):c.56C>T (p.Thr19Ile)
NM_001042432.2(CLN3):c.573T>C (p.Ala191=)
NM_001042432.2(CLN3):c.575G>A (p.Gly192Glu) rs386833733
NM_001042432.2(CLN3):c.576G>T (p.Gly192=) rs566516380
NM_001042432.2(CLN3):c.579G>A (p.Leu193=)
NM_001042432.2(CLN3):c.57C>A (p.Thr19=)
NM_001042432.2(CLN3):c.57C>G (p.Thr19=) rs2141722111
NM_001042432.2(CLN3):c.582G>A (p.Leu194=) rs386833734
NM_001042432.2(CLN3):c.582G>T (p.Leu194=) rs386833734
NM_001042432.2(CLN3):c.589C>G (p.Leu197Val) rs753705869
NM_001042432.2(CLN3):c.589C>T (p.Leu197=) rs753705869
NM_001042432.2(CLN3):c.591G>C (p.Leu197=) rs764082661
NM_001042432.2(CLN3):c.592del (p.Ser198fs) rs2141712336
NM_001042432.2(CLN3):c.594C>T (p.Ser198=)
NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter) rs267606737
NM_001042432.2(CLN3):c.598_601dup (p.Gly201fs)
NM_001042432.2(CLN3):c.599_615del (p.Leu200fs)
NM_001042432.2(CLN3):c.608C>T (p.Thr203Ile)
NM_001042432.2(CLN3):c.609C>G (p.Thr203=) rs2141712284
NM_001042432.2(CLN3):c.60C>T (p.Val20=)
NM_001042432.2(CLN3):c.611A>C (p.Gln204Pro) rs2141712276
NM_001042432.2(CLN3):c.618C>T (p.Gly206=) rs2141712243
NM_001042432.2(CLN3):c.620T>C (p.Leu207Pro) rs1411868641
NM_001042432.2(CLN3):c.62C>G (p.Pro21Arg)
NM_001042432.2(CLN3):c.62C>T (p.Pro21Leu) rs562525993
NM_001042432.2(CLN3):c.631C>T (p.Gln211Ter) rs386833737
NM_001042432.2(CLN3):c.636C>T (p.Thr212=)
NM_001042432.2(CLN3):c.637C>T (p.Leu213=) rs2141712165
NM_001042432.2(CLN3):c.639G>C (p.Leu213=) rs2141712141
NM_001042432.2(CLN3):c.639del (p.Leu214fs) rs2046218391
NM_001042432.2(CLN3):c.63G>A (p.Pro21=)
NM_001042432.2(CLN3):c.642G>A (p.Leu214=)
NM_001042432.2(CLN3):c.644C>T (p.Ser215Phe)
NM_001042432.2(CLN3):c.645C>A (p.Ser215=) rs1462596482
NM_001042432.2(CLN3):c.645C>G (p.Ser215=) rs1462596482
NM_001042432.2(CLN3):c.646A>G (p.Met216Val) rs2046218124
NM_001042432.2(CLN3):c.651G>C (p.Leu217=) rs2141712068
NM_001042432.2(CLN3):c.657C>A (p.Ile219=)
NM_001042432.2(CLN3):c.657C>T (p.Ile219=) rs1364319614
NM_001042432.2(CLN3):c.662C>T (p.Ala221Val)
NM_001042432.2(CLN3):c.663C>T (p.Ala221=)
NM_001042432.2(CLN3):c.666G>A (p.Leu222=)
NM_001042432.2(CLN3):c.66G>A (p.Glu22=) rs2141722085
NM_001042432.2(CLN3):c.671T>C (p.Leu224Pro) rs2046217325
NM_001042432.2(CLN3):c.676A>G (p.Ser226Gly) rs1555468695
NM_001042432.2(CLN3):c.677+10C>A
NM_001042432.2(CLN3):c.677+10C>T
NM_001042432.2(CLN3):c.677+11C>T
NM_001042432.2(CLN3):c.677+18G>T
NM_001042432.2(CLN3):c.677+5G>C
NM_001042432.2(CLN3):c.677+7T>G
NM_001042432.2(CLN3):c.677+9C>T rs2141711965
NM_001042432.2(CLN3):c.678-14C>T
NM_001042432.2(CLN3):c.678-6T>C rs2141707250
NM_001042432.2(CLN3):c.678-7C>T rs2141707254
NM_001042432.2(CLN3):c.678-8A>G
NM_001042432.2(CLN3):c.683del (p.Phe228fs)
NM_001042432.2(CLN3):c.684C>T (p.Phe228=)
NM_001042432.2(CLN3):c.688T>A (p.Leu230Met) rs746075287
NM_001042432.2(CLN3):c.688T>C (p.Leu230=) rs746075287
NM_001042432.2(CLN3):c.689T>G (p.Leu230Trp) rs2046161855
NM_001042432.2(CLN3):c.696A>G (p.Thr232=)
NM_001042432.2(CLN3):c.698C>A (p.Ser233Tyr) rs2046161412
NM_001042432.2(CLN3):c.6A>G (p.Gly2=)
NM_001042432.2(CLN3):c.702T>G (p.Pro234=)
NM_001042432.2(CLN3):c.707C>T (p.Ala236Val) rs754906598
NM_001042432.2(CLN3):c.709C>T (p.Gln237Ter) rs2141707084
NM_001042432.2(CLN3):c.711G>A (p.Gln237=) rs2141707065
NM_001042432.2(CLN3):c.714C>T (p.Asp238=)
NM_001042432.2(CLN3):c.717T>C (p.Pro239=) rs2046160732
NM_001042432.2(CLN3):c.723G>T (p.Gly241=) rs2141707009
NM_001042432.2(CLN3):c.726A>T (p.Glu242Asp) rs2046160396
NM_001042432.2(CLN3):c.729del (p.Glu244fs)
NM_001042432.2(CLN3):c.731A>C (p.Glu244Ala) rs2046160099
NM_001042432.2(CLN3):c.734C>A (p.Ala245Glu) rs2141706952
NM_001042432.2(CLN3):c.734_736del (p.Ala245del) rs776966610
NM_001042432.2(CLN3):c.737A>T (p.Glu246Val) rs2046159849
NM_001042432.2(CLN3):c.739A>C (p.Ser247Arg)
NM_001042432.2(CLN3):c.744A>C (p.Ala248=) rs1446036630
NM_001042432.2(CLN3):c.747C>T (p.Ala249=)
NM_001042432.2(CLN3):c.749G>C (p.Arg250Pro) rs374217931
NM_001042432.2(CLN3):c.751C>T (p.Gln251Ter) rs2046158549
NM_001042432.2(CLN3):c.755C>T (p.Pro252Leu) rs761065339
NM_001042432.2(CLN3):c.756C>T (p.Pro252=) rs2046158184
NM_001042432.2(CLN3):c.759C>T (p.Leu253=) rs772274552
NM_001042432.2(CLN3):c.75C>A (p.Leu25=)
NM_001042432.2(CLN3):c.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.774C>T (p.Ala258=)
NM_001042432.2(CLN3):c.775C>T (p.Pro259Ser)
NM_001042432.2(CLN3):c.776C>A (p.Pro259Gln) rs137858807
NM_001042432.2(CLN3):c.784A>G (p.Lys262Glu)
NM_001042432.2(CLN3):c.784A>T (p.Lys262Ter) rs1064794233
NM_001042432.2(CLN3):c.790+10A>G rs2141706615
NM_001042432.2(CLN3):c.790+14A>C
NM_001042432.2(CLN3):c.790+19C>G
NM_001042432.2(CLN3):c.790+1G>A
NM_001042432.2(CLN3):c.790+1G>T
NM_001042432.2(CLN3):c.790+1del rs1555468374
NM_001042432.2(CLN3):c.790+2T>C rs1397197980
NM_001042432.2(CLN3):c.790+3A>C rs386833738
NM_001042432.2(CLN3):c.790+7G>A rs2046156095
NM_001042432.2(CLN3):c.790+7G>C rs2046156095
NM_001042432.2(CLN3):c.790+9C>G rs1220855528
NM_001042432.2(CLN3):c.790G>T (p.Gly264Cys) rs2046156366
NM_001042432.2(CLN3):c.791-11T>G
NM_001042432.2(CLN3):c.791-13T>C
NM_001042432.2(CLN3):c.791-15T>C
NM_001042432.2(CLN3):c.791-16C>G
NM_001042432.2(CLN3):c.791-20C>T
NM_001042432.2(CLN3):c.791-2A>G
NM_001042432.2(CLN3):c.791-5T>G
NM_001042432.2(CLN3):c.791-6del rs2141704273
NM_001042432.2(CLN3):c.791-7C>T
NM_001042432.2(CLN3):c.791-8C>T rs2141704283
NM_001042432.2(CLN3):c.791-9C>A
NM_001042432.2(CLN3):c.791-9C>T rs771178755
NM_001042432.2(CLN3):c.792C>T (p.Gly264=) rs2046122078
NM_001042432.2(CLN3):c.793T>G (p.Ser265Ala) rs2141704251
NM_001042432.2(CLN3):c.794C>T (p.Ser265Phe)
NM_001042432.2(CLN3):c.798C>T (p.Ser266=) rs2141704238
NM_001042432.2(CLN3):c.7G>A (p.Gly3Ser) rs1398814860
NM_001042432.2(CLN3):c.804C>T (p.Ser268=) rs773546150
NM_001042432.2(CLN3):c.805C>T (p.Leu269Phe) rs1308474116
NM_001042432.2(CLN3):c.80T>C (p.Leu27Pro)
NM_001042432.2(CLN3):c.813T>A (p.Leu271=)
NM_001042432.2(CLN3):c.825G>A (p.Trp275Ter) rs2141704162
NM_001042432.2(CLN3):c.828_829del (p.Phe278fs)
NM_001042432.2(CLN3):c.832T>A (p.Phe278Ile) rs1567257709
NM_001042432.2(CLN3):c.837+10A>T
NM_001042432.2(CLN3):c.837+13G>A
NM_001042432.2(CLN3):c.837+17G>C
NM_001042432.2(CLN3):c.837+1G>T
NM_001042432.2(CLN3):c.837+3del rs759553835
NM_001042432.2(CLN3):c.837+4C>T rs778372397
NM_001042432.2(CLN3):c.837+9G>A
NM_001042432.2(CLN3):c.837+9dup rs774380601
NM_001042432.2(CLN3):c.838-11G>A
NM_001042432.2(CLN3):c.838-12T>C rs778887944
NM_001042432.2(CLN3):c.838-17T>A
NM_001042432.2(CLN3):c.838-20A>T
NM_001042432.2(CLN3):c.838-9C>T rs1157303314
NM_001042432.2(CLN3):c.843G>A (p.Leu281=) rs932586773
NM_001042432.2(CLN3):c.843G>T (p.Leu281=) rs932586773
NM_001042432.2(CLN3):c.845_847dup (p.Leu282_Trp283insLeu)
NM_001042432.2(CLN3):c.846G>A (p.Leu282=) rs2141703882
NM_001042432.2(CLN3):c.853A>G (p.Ile285Val) rs748844685
NM_001042432.2(CLN3):c.855T>C (p.Ile285=)
NM_001042432.2(CLN3):c.859C>A (p.Pro287Thr) rs796052341
NM_001042432.2(CLN3):c.861C>G (p.Pro287=)
NM_001042432.2(CLN3):c.861C>T (p.Pro287=) rs1057524528
NM_001042432.2(CLN3):c.867C>G (p.Val289=) rs2046117159
NM_001042432.2(CLN3):c.867C>T (p.Val289=) rs2046117159
NM_001042432.2(CLN3):c.868G>T (p.Val290Leu) rs369008702
NM_001042432.2(CLN3):c.870A>G (p.Val290=) rs1555468214
NM_001042432.2(CLN3):c.871dup (p.Val291fs)
NM_001042432.2(CLN3):c.87C>A (p.Asp29Glu) rs1131691496
NM_001042432.2(CLN3):c.882C>G (p.Ala294=)
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter) rs121434286
NM_001042432.2(CLN3):c.884A>G (p.Glu295Gly) rs2141703722
NM_001042432.2(CLN3):c.885G>A (p.Glu295=)
NM_001042432.2(CLN3):c.906+10G>A rs1486544857
NM_001042432.2(CLN3):c.906+11G>A
NM_001042432.2(CLN3):c.906+15C>G
NM_001042432.2(CLN3):c.906+16T>C rs2141703636
NM_001042432.2(CLN3):c.906+17A>G
NM_001042432.2(CLN3):c.906+18G>A rs2046115412
NM_001042432.2(CLN3):c.906+18G>C
NM_001042432.2(CLN3):c.906+20A>C
NM_001042432.2(CLN3):c.906+2T>G rs771788391
NM_001042432.2(CLN3):c.906+9G>C rs1191183887
NM_001042432.2(CLN3):c.907-17T>A
NM_001042432.2(CLN3):c.907-18G>A
NM_001042432.2(CLN3):c.907-2A>G rs2141703433
NM_001042432.2(CLN3):c.907-3C>T
NM_001042432.2(CLN3):c.907-4G>A
NM_001042432.2(CLN3):c.907-7G>A rs368113837
NM_001042432.2(CLN3):c.915C>G (p.Leu305=) rs759304422
NM_001042432.2(CLN3):c.915C>T (p.Leu305=) rs759304422
NM_001042432.2(CLN3):c.916C>T (p.Leu306Phe)
NM_001042432.2(CLN3):c.918C>G (p.Leu306=)
NM_001042432.2(CLN3):c.930C>T (p.Asn310=) rs2141703388
NM_001042432.2(CLN3):c.931A>G (p.Thr311Ala)
NM_001042432.2(CLN3):c.936C>T (p.Ser312=) rs762896453
NM_001042432.2(CLN3):c.937C>T (p.Leu313=)
NM_001042432.2(CLN3):c.943C>G (p.His315Asp) rs2141703350
NM_001042432.2(CLN3):c.944_945insGA (p.His315fs)
NM_001042432.2(CLN3):c.944dup (p.His315fs) rs386833740
NM_001042432.2(CLN3):c.946G>T (p.Ala316Ser) rs780974004
NM_001042432.2(CLN3):c.947C>G (p.Ala316Gly) rs2046112700
NM_001042432.2(CLN3):c.954A>T (p.Gln318His) rs2141703284
NM_001042432.2(CLN3):c.954_962+18del rs386833741
NM_001042432.2(CLN3):c.956A>G (p.Tyr319Cys) rs1322613715
NM_001042432.2(CLN3):c.962+10G>A rs1409669851
NM_001042432.2(CLN3):c.962+18A>G
NM_001042432.2(CLN3):c.962+2dup
NM_001042432.2(CLN3):c.962+4A>G rs1596556713
NM_001042432.2(CLN3):c.962+7G>A rs1555468172
NM_001042432.2(CLN3):c.962+8G>A rs2046112088
NM_001042432.2(CLN3):c.963-10C>G
NM_001042432.2(CLN3):c.963-15C>G
NM_001042432.2(CLN3):c.963-15C>T rs746276318
NM_001042432.2(CLN3):c.963-16C>A rs200023908
NM_001042432.2(CLN3):c.963-16C>T
NM_001042432.2(CLN3):c.963-17C>A rs746616613
NM_001042432.2(CLN3):c.963-20C>T
NM_001042432.2(CLN3):c.963-2A>G rs1418997146
NM_001042432.2(CLN3):c.963-5C>A
NM_001042432.2(CLN3):c.963-6C>A
NM_001042432.2(CLN3):c.963-8A>C
NM_001042432.2(CLN3):c.963-8A>G
NM_001042432.2(CLN3):c.967C>T (p.Gln323Ter)
NM_001042432.2(CLN3):c.969G>A (p.Gln323=) rs2141702884
NM_001042432.2(CLN3):c.96C>A (p.Gly32=)
NM_001042432.2(CLN3):c.96C>T (p.Gly32=)
NM_001042432.2(CLN3):c.984T>A (p.Ala328=) rs2141702854
NM_001042432.2(CLN3):c.985_988del (p.Gly329fs) rs2141702839
NM_001042432.2(CLN3):c.988G>T (p.Val330Phe) rs386833744
NM_001042432.2(CLN3):c.990C>G (p.Val330=) rs2141702816
NM_001042432.2(CLN3):c.992_993del (p.Phe331fs) rs2046109345
NM_001042432.2(CLN3):c.995C>T (p.Ala332Val)
NM_001042432.2(CLN3):c.996C>T (p.Ala332=)
NM_001042432.2(CLN3):c.99G>C (p.Ala33=)
NM_001042432.2(CLN3):c.9C>T (p.Gly3=) rs2141722774
NM_001292004.2(HEXB):c.-376-4189C>T
NM_001366624.2(CLN5):c.*43G>A rs2034339711
NM_001909.5(CTSD):c.1002C>T (p.Thr334=)
NM_001909.5(CTSD):c.1009G>T (p.Ala337Ser) rs147800688
NM_001909.5(CTSD):c.1011G>A (p.Ala337=)
NM_001909.5(CTSD):c.1011G>T (p.Ala337=)
NM_001909.5(CTSD):c.1012A>C (p.Ile338Leu)
NM_001909.5(CTSD):c.1017A>G (p.Thr339=) rs1845760192
NM_001909.5(CTSD):c.1017A>T (p.Thr339=)
NM_001909.5(CTSD):c.1023G>A (p.Lys341=) rs111849172
NM_001909.5(CTSD):c.1029A>G (p.Gly343=)
NM_001909.5(CTSD):c.1034A>G (p.Lys345Arg) rs1845759906
NM_001909.5(CTSD):c.1047G>A (p.Leu349=) rs2133657544
NM_001909.5(CTSD):c.1050C>T (p.Ser350=)
NM_001909.5(CTSD):c.1052dup (p.Glu352fs)
NM_001909.5(CTSD):c.1056G>A (p.Glu352=)
NM_001909.5(CTSD):c.105C>T (p.Thr35=) rs2133666357
NM_001909.5(CTSD):c.1064C>T (p.Thr355Met)
NM_001909.5(CTSD):c.1068C>G (p.Leu356=)
NM_001909.5(CTSD):c.106A>G (p.Met36Val)
NM_001909.5(CTSD):c.1071+10C>A rs2133657508
NM_001909.5(CTSD):c.1071+10C>T rs2133657508
NM_001909.5(CTSD):c.1071+12A>T rs113936232
NM_001909.5(CTSD):c.1071+13_1072-57del
NM_001909.5(CTSD):c.1071+15G>A
NM_001909.5(CTSD):c.1071+16G>A
NM_001909.5(CTSD):c.1071+16G>T
NM_001909.5(CTSD):c.1071+17G>T
NM_001909.5(CTSD):c.1072-11G>A
NM_001909.5(CTSD):c.1072-11G>C rs143631836
NM_001909.5(CTSD):c.1072-12G>C
NM_001909.5(CTSD):c.1072-15C>G
NM_001909.5(CTSD):c.1072-17C>T
NM_001909.5(CTSD):c.1072-18C>T
NM_001909.5(CTSD):c.1072-1G>A
NM_001909.5(CTSD):c.1072-5C>T rs1184773829
NM_001909.5(CTSD):c.1072-7G>T rs149019571
NM_001909.5(CTSD):c.1072-8C>T
NM_001909.5(CTSD):c.1077G>C (p.Ser359=)
NM_001909.5(CTSD):c.1077G>T (p.Ser359=) rs138940129
NM_001909.5(CTSD):c.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.1125C>T (p.Ile375=)
NM_001909.5(CTSD):c.1128G>C (p.Pro376=)
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.1146C>G (p.Leu382=) rs1030148662
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.114G>A (p.Glu38=)
NM_001909.5(CTSD):c.115G>A (p.Val39Ile)
NM_001909.5(CTSD):c.115G>C (p.Val39Leu)
NM_001909.5(CTSD):c.1161C>T (p.Asp387=)
NM_001909.5(CTSD):c.1164C>G (p.Val388=)
NM_001909.5(CTSD):c.1164C>T (p.Val388=)
NM_001909.5(CTSD):c.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.1176C>A (p.Arg392=)
NM_001909.5(CTSD):c.117T>C (p.Val39=)
NM_001909.5(CTSD):c.1182C>T (p.Tyr394=)
NM_001909.5(CTSD):c.1185T>C (p.Thr395=)
NM_001909.5(CTSD):c.1185T>G (p.Thr395=) rs1565018468
NM_001909.5(CTSD):c.1188G>A (p.Val396=)
NM_001909.5(CTSD):c.1194C>T (p.Asp398=)
NM_001909.5(CTSD):c.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.1206C>T (p.Asn402=)
NM_001909.5(CTSD):c.120G>A (p.Gly40=)
NM_001909.5(CTSD):c.1210G>T (p.Val404Leu) rs750489880
NM_001909.5(CTSD):c.1213G>A (p.Gly405Ser)
NM_001909.5(CTSD):c.1218C>T (p.Phe406=)
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.1236C>G (p.Leu412=) rs1565018392
NM_001909.5(CTSD):c.1236C>T (p.Leu412=)
NM_001909.5(CTSD):c.1239G>A (p.Ter413=)
NM_001909.5(CTSD):c.12C>T (p.Ser4=)
NM_001909.5(CTSD):c.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>C (p.Ile47=)
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.153del (p.Val52fs)
NM_001909.5(CTSD):c.15C>T (p.Ser5=)
NM_001909.5(CTSD):c.161A>G (p.Lys54Arg) rs1565023298
NM_001909.5(CTSD):c.162G>A (p.Lys54=)
NM_001909.5(CTSD):c.165C>T (p.Tyr55=)
NM_001909.5(CTSD):c.166T>C (p.Ser56Pro)
NM_001909.5(CTSD):c.168C>G (p.Ser56=)
NM_001909.5(CTSD):c.169C>T (p.Gln57Ter)
NM_001909.5(CTSD):c.16C>T (p.Leu6Phe) rs1590909993
NM_001909.5(CTSD):c.173C>A (p.Ala58Glu)
NM_001909.5(CTSD):c.177G>A (p.Val59=)
NM_001909.5(CTSD):c.180A>G (p.Pro60=) rs749805002
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.189C>G (p.Thr63=) rs114051835
NM_001909.5(CTSD):c.190G>C (p.Glu64Gln) rs539823013
NM_001909.5(CTSD):c.190G>T (p.Glu64Ter)
NM_001909.5(CTSD):c.192G>A (p.Glu64=)
NM_001909.5(CTSD):c.195G>T (p.Gly65=) rs2133666196
NM_001909.5(CTSD):c.19C>T (p.Leu7=) rs1470191996
NM_001909.5(CTSD):c.1A>G (p.Met1Val)
NM_001909.5(CTSD):c.203C>T (p.Pro68Leu) rs11555044
NM_001909.5(CTSD):c.204C>G (p.Pro68=)
NM_001909.5(CTSD):c.207G>A (p.Glu69=)
NM_001909.5(CTSD):c.211C>T (p.Leu71Phe)
NM_001909.5(CTSD):c.21G>C (p.Leu7=)
NM_001909.5(CTSD):c.228+17A>G
NM_001909.5(CTSD):c.228+19C>A
NM_001909.5(CTSD):c.228+1G>A rs766300396
NM_001909.5(CTSD):c.228+1G>T rs766300396
NM_001909.5(CTSD):c.228+7A>T
NM_001909.5(CTSD):c.228+8T>C
NM_001909.5(CTSD):c.229-12G>A rs767539066
NM_001909.5(CTSD):c.229-12G>C
NM_001909.5(CTSD):c.229-18del
NM_001909.5(CTSD):c.229-8C>T
NM_001909.5(CTSD):c.22C>T (p.Pro8Ser) rs1590909988
NM_001909.5(CTSD):c.243G>C (p.Gly81=)
NM_001909.5(CTSD):c.253A>G (p.Ile85Val) rs1565022412
NM_001909.5(CTSD):c.255C>T (p.Ile85=)
NM_001909.5(CTSD):c.256G>A (p.Gly86Arg) rs1845850566
NM_001909.5(CTSD):c.261G>C (p.Thr87=)
NM_001909.5(CTSD):c.262C>G (p.Pro88Ala) rs796052400
NM_001909.5(CTSD):c.262C>T (p.Pro88Ser)
NM_001909.5(CTSD):c.264C>T (p.Pro88=)
NM_001909.5(CTSD):c.267C>A (p.Pro89=)
NM_001909.5(CTSD):c.267C>T (p.Pro89=)
NM_001909.5(CTSD):c.268del (p.Gln90fs) rs752612332
NM_001909.5(CTSD):c.268dup (p.Gln90fs) rs752612332
NM_001909.5(CTSD):c.269A>G (p.Gln90Arg)
NM_001909.5(CTSD):c.271T>C (p.Cys91Arg) rs1042278213
NM_001909.5(CTSD):c.276C>T (p.Phe92=)
NM_001909.5(CTSD):c.27C>T (p.Leu9=)
NM_001909.5(CTSD):c.285C>T (p.Val95=) rs1845849997
NM_001909.5(CTSD):c.28G>T (p.Ala10Ser) rs1845913637
NM_001909.5(CTSD):c.293C>G (p.Thr98Arg) rs748897941
NM_001909.5(CTSD):c.300C>T (p.Ser100=) rs1417163449
NM_001909.5(CTSD):c.304A>C (p.Asn102His) rs2133664207
NM_001909.5(CTSD):c.306C>T (p.Asn102=) rs1258957118
NM_001909.5(CTSD):c.307C>G (p.Leu103Val) rs750415207
NM_001909.5(CTSD):c.307C>T (p.Leu103=)
NM_001909.5(CTSD):c.309G>T (p.Leu103=)
NM_001909.5(CTSD):c.313G>A (p.Val105Ile) rs897944478
NM_001909.5(CTSD):c.318C>T (p.Pro106=) rs1845849397
NM_001909.5(CTSD):c.330C>T (p.Cys110=)
NM_001909.5(CTSD):c.339G>A (p.Leu113=) rs2133664177
NM_001909.5(CTSD):c.342C>T (p.Asp114=)
NM_001909.5(CTSD):c.343A>G (p.Ile115Val)
NM_001909.5(CTSD):c.347C>T (p.Ala116Val)
NM_001909.5(CTSD):c.352+10G>A rs775828680
NM_001909.5(CTSD):c.352+10G>C rs775828680
NM_001909.5(CTSD):c.352+12A>G
NM_001909.5(CTSD):c.352+16T>C rs2133664139
NM_001909.5(CTSD):c.353-10C>T
NM_001909.5(CTSD):c.353-14G>C
NM_001909.5(CTSD):c.353-15T>C
NM_001909.5(CTSD):c.353-4G>A rs1565022058
NM_001909.5(CTSD):c.353-6G>A rs1565022065
NM_001909.5(CTSD):c.353-8C>G
NM_001909.5(CTSD):c.353-8C>T rs760934292
NM_001909.5(CTSD):c.353-9C>T rs1369399012
NM_001909.5(CTSD):c.355A>G (p.Ile119Val)
NM_001909.5(CTSD):c.358C>T (p.His120Tyr) rs1381781298
NM_001909.5(CTSD):c.360C>T (p.His120=) rs1456005145
NM_001909.5(CTSD):c.369C>T (p.Tyr123=)
NM_001909.5(CTSD):c.370A>G (p.Asn124Asp) rs1590907227
NM_001909.5(CTSD):c.378C>A (p.Asp126Glu)
NM_001909.5(CTSD):c.384C>T (p.Ser128=)
NM_001909.5(CTSD):c.390C>T (p.Thr130=)
NM_001909.5(CTSD):c.394G>A (p.Val132Met) rs770820791
NM_001909.5(CTSD):c.396G>A (p.Val132=) rs2133663597
NM_001909.5(CTSD):c.407C>T (p.Thr136Ile)
NM_001909.5(CTSD):c.409T>A (p.Ser137Thr) rs1845842497
NM_001909.5(CTSD):c.420C>T (p.Ile140=)
NM_001909.5(CTSD):c.429C>T (p.Gly143=) rs755085691
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.457C>T (p.Gln153Ter)
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.465dup (p.Val156fs)
NM_001909.5(CTSD):c.468G>A (p.Val156=)
NM_001909.5(CTSD):c.468_469del (p.Ser157fs)
NM_001909.5(CTSD):c.471+17C>A
NM_001909.5(CTSD):c.471+6T>G rs2133663481
NM_001909.5(CTSD):c.471+8C>T
NM_001909.5(CTSD):c.472-16_472-15del
NM_001909.5(CTSD):c.472-17T>G
NM_001909.5(CTSD):c.472-19A>C rs2133662179
NM_001909.5(CTSD):c.472-20G>C
NM_001909.5(CTSD):c.472-6C>A
NM_001909.5(CTSD):c.472G>A (p.Val158Met)
NM_001909.5(CTSD):c.474G>C (p.Val158=)
NM_001909.5(CTSD):c.478T>C (p.Cys160Arg) rs1845825044
NM_001909.5(CTSD):c.489G>T (p.Ala163=)
NM_001909.5(CTSD):c.493T>A (p.Ser165Thr)
NM_001909.5(CTSD):c.495A>G (p.Ser165=)
NM_001909.5(CTSD):c.497C>T (p.Ala166Val) rs796052396
NM_001909.5(CTSD):c.498C>T (p.Ala166=)
NM_001909.5(CTSD):c.502G>T (p.Ala168Ser) rs1554962647
NM_001909.5(CTSD):c.507G>A (p.Leu169=)
NM_001909.5(CTSD):c.507G>C (p.Leu169=)
NM_001909.5(CTSD):c.508G>A (p.Gly170Ser)
NM_001909.5(CTSD):c.509G>A (p.Gly170Asp) rs1845824451
NM_001909.5(CTSD):c.51del (p.Ala18fs)
NM_001909.5(CTSD):c.52G>C (p.Ala18Pro) rs796052403
NM_001909.5(CTSD):c.537T>C (p.Phe179=) rs11555045
NM_001909.5(CTSD):c.550A>T (p.Lys184Ter)
NM_001909.5(CTSD):c.555G>T (p.Gln185His)
NM_001909.5(CTSD):c.558A>C (p.Pro186=)
NM_001909.5(CTSD):c.566C>T (p.Thr189Ile) rs1554962634
NM_001909.5(CTSD):c.570C>T (p.Phe190=) rs1325097000
NM_001909.5(CTSD):c.571A>G (p.Ile191Val) rs750166391
NM_001909.5(CTSD):c.573C>T (p.Ile191=)
NM_001909.5(CTSD):c.574G>A (p.Ala192Thr) rs767282477
NM_001909.5(CTSD):c.585C>T (p.Phe195=)
NM_001909.5(CTSD):c.586G>A (p.Asp196Asn) rs1388675826
NM_001909.5(CTSD):c.594C>T (p.Ile198=)
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.621C>T (p.Ser207=) rs367978332
NM_001909.5(CTSD):c.627_628del (p.Asn209fs)
NM_001909.5(CTSD):c.634C>T (p.Leu212=)
NM_001909.5(CTSD):c.639C>A (p.Pro213=) rs146073498
NM_001909.5(CTSD):c.639C>T (p.Pro213=) rs146073498
NM_001909.5(CTSD):c.63C>G (p.Leu21=) rs1021613206
NM_001909.5(CTSD):c.642C>T (p.Val214=)
NM_001909.5(CTSD):c.645C>T (p.Phe215=)
NM_001909.5(CTSD):c.646G>A (p.Asp216Asn) rs1235872591
NM_001909.5(CTSD):c.64G>T (p.Val22Phe) rs1060502503
NM_001909.5(CTSD):c.654G>T (p.Leu218=)
NM_001909.5(CTSD):c.657G>T (p.Met219Ile)
NM_001909.5(CTSD):c.658C>T (p.Gln220Ter)
NM_001909.5(CTSD):c.665A>G (p.Lys222Arg) rs1845822086
NM_001909.5(CTSD):c.666G>A (p.Lys222=) rs2133661919
NM_001909.5(CTSD):c.669G>A (p.Leu223=)
NM_001909.5(CTSD):c.670G>A (p.Val224Met)
NM_001909.5(CTSD):c.671T>A (p.Val224Glu)
NM_001909.5(CTSD):c.672G>A (p.Val224=)
NM_001909.5(CTSD):c.675_704+1dup
NM_001909.5(CTSD):c.68+10C>G rs760082760
NM_001909.5(CTSD):c.68+11_68+12del
NM_001909.5(CTSD):c.68+16C>T
NM_001909.5(CTSD):c.68+18G>A
NM_001909.5(CTSD):c.68+19G>A
NM_001909.5(CTSD):c.68+19G>C
NM_001909.5(CTSD):c.68+1G>A
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.69-11G>C rs199970909
NM_001909.5(CTSD):c.69-12C>A rs764025297
NM_001909.5(CTSD):c.69-14C>T
NM_001909.5(CTSD):c.69-15A>G
NM_001909.5(CTSD):c.69-16G>C rs377703110
NM_001909.5(CTSD):c.69-17C>T rs371858126
NM_001909.5(CTSD):c.69-17del
NM_001909.5(CTSD):c.69-18C>T
NM_001909.5(CTSD):c.69-19C>T
NM_001909.5(CTSD):c.69-1G>A
NM_001909.5(CTSD):c.692_694del (p.Phe231del) rs1478615059
NM_001909.5(CTSD):c.696C>T (p.Tyr232=)
NM_001909.5(CTSD):c.704+10T>C
NM_001909.5(CTSD):c.704+11G>A
NM_001909.5(CTSD):c.704+17C>T
NM_001909.5(CTSD):c.704+19T>C
NM_001909.5(CTSD):c.704+1G>T
NM_001909.5(CTSD):c.704+6C>A rs370847523
NM_001909.5(CTSD):c.704+7G>A rs748547852
NM_001909.5(CTSD):c.704+7G>T
NM_001909.5(CTSD):c.704+9G>C rs2133661868
NM_001909.5(CTSD):c.704+9G>T
NM_001909.5(CTSD):c.705-15C>T
NM_001909.5(CTSD):c.705-63_705-11del rs2133660021
NM_001909.5(CTSD):c.705-7C>T
NM_001909.5(CTSD):c.708C>T (p.Asp236=)
NM_001909.5(CTSD):c.70A>T (p.Ile24Phe) rs1845876465
NM_001909.5(CTSD):c.717G>C (p.Ala239=)
NM_001909.5(CTSD):c.717G>T (p.Ala239=)
NM_001909.5(CTSD):c.718C>T (p.Gln240Ter)
NM_001909.5(CTSD):c.725G>T (p.Gly242Val)
NM_001909.5(CTSD):c.728del (p.Gly243fs)
NM_001909.5(CTSD):c.72C>G (p.Ile24Met)
NM_001909.5(CTSD):c.733C>T (p.Leu245=)
NM_001909.5(CTSD):c.741G>C (p.Leu247=)
NM_001909.5(CTSD):c.753C>T (p.Asp251=) rs2133659952
NM_001909.5(CTSD):c.756C>T (p.Ser252=)
NM_001909.5(CTSD):c.756dup (p.Lys253fs)
NM_001909.5(CTSD):c.759G>A (p.Lys253=) rs2133659945
NM_001909.5(CTSD):c.767A>G (p.Lys256Arg)
NM_001909.5(CTSD):c.768G>A (p.Lys256=)
NM_001909.5(CTSD):c.775C>T (p.Leu259=)
NM_001909.5(CTSD):c.780C>G (p.Ser260=)
NM_001909.5(CTSD):c.780C>T (p.Ser260=) rs1404000220
NM_001909.5(CTSD):c.795C>T (p.Thr265=)
NM_001909.5(CTSD):c.797G>A (p.Arg266His)
NM_001909.5(CTSD):c.799A>C (p.Lys267Gln) rs749091423
NM_001909.5(CTSD):c.804C>T (p.Ala268=)
NM_001909.5(CTSD):c.816C>A (p.Val272=) rs1554962441
NM_001909.5(CTSD):c.816C>T (p.Val272=)
NM_001909.5(CTSD):c.824_827+30del rs2133659840
NM_001909.5(CTSD):c.827+14_827+15delinsTT rs2133659869
NM_001909.5(CTSD):c.827+17G>A
NM_001909.5(CTSD):c.827+17G>C
NM_001909.5(CTSD):c.827+19del
NM_001909.5(CTSD):c.827+20G>T rs763211820
NM_001909.5(CTSD):c.827+2T>C rs1845791308
NM_001909.5(CTSD):c.827+5G>A
NM_001909.5(CTSD):c.828-15C>G
NM_001909.5(CTSD):c.828-16C>T
NM_001909.5(CTSD):c.828-19_828-18delinsCT
NM_001909.5(CTSD):c.828-20C>T
NM_001909.5(CTSD):c.828-2A>C
NM_001909.5(CTSD):c.828-3C>A
NM_001909.5(CTSD):c.828-6C>G rs1222306629
NM_001909.5(CTSD):c.828-7C>T
NM_001909.5(CTSD):c.828-8C>T
NM_001909.5(CTSD):c.828-9T>G
NM_001909.5(CTSD):c.829G>T (p.Val277Leu)
NM_001909.5(CTSD):c.82A>G (p.Lys28Glu)
NM_001909.5(CTSD):c.831G>A (p.Val277=) rs764812657
NM_001909.5(CTSD):c.832G>C (p.Glu278Gln) rs1402574017
NM_001909.5(CTSD):c.832G>T (p.Glu278Ter)
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.849G>A (p.Leu283=) rs1014674908
NM_001909.5(CTSD):c.84G>A (p.Lys28=)
NM_001909.5(CTSD):c.851C>G (p.Thr284Ser)
NM_001909.5(CTSD):c.853del (p.Leu285fs)
NM_001909.5(CTSD):c.863A>G (p.Glu288Gly)
NM_001909.5(CTSD):c.873G>A (p.Glu291=)
NM_001909.5(CTSD):c.879T>A (p.Ile293=)
NM_001909.5(CTSD):c.885C>T (p.Asp295=)
NM_001909.5(CTSD):c.887C>G (p.Thr296Arg)
NM_001909.5(CTSD):c.888A>C (p.Thr296=)
NM_001909.5(CTSD):c.894T>G (p.Thr298=)
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.908del (p.Gly303fs) rs2133657906
NM_001909.5(CTSD):c.909C>T (p.Gly303=)
NM_001909.5(CTSD):c.914_947del (p.Val305fs)
NM_001909.5(CTSD):c.918T>C (p.Asp306=) rs2133657880
NM_001909.5(CTSD):c.918T>G (p.Asp306Glu)
NM_001909.5(CTSD):c.924G>A (p.Val308=) rs1554962286
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys) rs373699222
NM_001909.5(CTSD):c.942C>T (p.Ala314=)
NM_001909.5(CTSD):c.949del (p.Ala317fs) rs2133657826
NM_001909.5(CTSD):c.94A>G (p.Ile32Val)
NM_001909.5(CTSD):c.952G>A (p.Val318Met)
NM_001909.5(CTSD):c.952del (p.Val318fs)
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+10_972+15del
NM_001909.5(CTSD):c.972+10_972+15dup
NM_001909.5(CTSD):c.972+12G>A
NM_001909.5(CTSD):c.972+13G>A
NM_001909.5(CTSD):c.972+14G>A rs752075136
NM_001909.5(CTSD):c.972+14G>C rs752075136
NM_001909.5(CTSD):c.972+14G>T
NM_001909.5(CTSD):c.972+15C>A
NM_001909.5(CTSD):c.972+15C>T
NM_001909.5(CTSD):c.972+18G>A
NM_001909.5(CTSD):c.972+1G>C
NM_001909.5(CTSD):c.972+4A>G rs2133657784
NM_001909.5(CTSD):c.972+4_972+5dup rs1386489811
NM_001909.5(CTSD):c.972+7G>C
NM_001909.5(CTSD):c.972+9C>G rs746243061
NM_001909.5(CTSD):c.973-12G>A
NM_001909.5(CTSD):c.973-12G>C
NM_001909.5(CTSD):c.973-13T>C
NM_001909.5(CTSD):c.973-15T>C
NM_001909.5(CTSD):c.973-18T>G
NM_001909.5(CTSD):c.973-20A>G
NM_001909.5(CTSD):c.973-7C>T
NM_001909.5(CTSD):c.973-8C>A rs886048064
NM_001909.5(CTSD):c.973-9C>T
NM_001909.5(CTSD):c.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.984_985del (p.Pro328_Cys329insTer)
NM_001909.5(CTSD):c.98G>A (p.Arg33His)
NM_001909.5(CTSD):c.993G>C (p.Lys331Asn) rs1181418072
NM_001909.5(CTSD):c.996G>T (p.Val332=)
NM_001909.5(CTSD):c.999C>A (p.Ser333=) rs755867394
NM_001909.5(CTSD):c.999C>T (p.Ser333=)
NM_002087.3(GRN):c.1144dup (p.Thr382Asnfs) rs63749905
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.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.1020C>T (p.His340=)
NM_002087.4(GRN):c.102del (p.Gly35fs) rs63751073
NM_002087.4(GRN):c.1036_1038del (p.Glu346del) rs751373342
NM_002087.4(GRN):c.1041G>A (p.Lys347=)
NM_002087.4(GRN):c.1059C>G (p.Ser353Arg)
NM_002087.4(GRN):c.1060C>T (p.Leu354=)
NM_002087.4(GRN):c.1071A>T (p.Pro357=) rs765677842
NM_002087.4(GRN):c.1072C>T (p.Gln358Ter) rs1555611293
NM_002087.4(GRN):c.1076C>T (p.Ala359Val)
NM_002087.4(GRN):c.108A>T (p.Gly36=)
NM_002087.4(GRN):c.1092C>T (p.Val364=)
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.1149T>A (p.Ser383=)
NM_002087.4(GRN):c.1152G>A (p.Gly384=)
NM_002087.4(GRN):c.1152G>T (p.Gly384=) rs2143342232
NM_002087.4(GRN):c.1153del (p.Glu385fs) rs2143342203
NM_002087.4(GRN):c.1158G>A (p.Trp386Ter)
NM_002087.4(GRN):c.1179+15del
NM_002087.4(GRN):c.1179+1G>C
NM_002087.4(GRN):c.1179+3A>G
NM_002087.4(GRN):c.1179+4_1179+8del rs752440929
NM_002087.4(GRN):c.1179G>C (p.Glu393Asp)
NM_002087.4(GRN):c.1180-12C>T
NM_002087.4(GRN):c.1180-3del
NM_002087.4(GRN):c.1180-4C>A
NM_002087.4(GRN):c.1180-7C>G rs1288562767
NM_002087.4(GRN):c.118_121dup (p.Cys41Ter)
NM_002087.4(GRN):c.1194G>A (p.Ser398=)
NM_002087.4(GRN):c.1204C>G (p.His402Asp)
NM_002087.4(GRN):c.1213C>T (p.Pro405Ser)
NM_002087.4(GRN):c.1216C>T (p.Gln406Ter) rs2143344360
NM_002087.4(GRN):c.1227G>T (p.Thr409=)
NM_002087.4(GRN):c.1227del (p.Cys410fs)
NM_002087.4(GRN):c.1240G>A (p.Gly414Arg)
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter) rs63751180
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.1266C>T (p.Ile422=)
NM_002087.4(GRN):c.1267G>A (p.Val423Met)
NM_002087.4(GRN):c.128_129insCC (p.Pro44fs)
NM_002087.4(GRN):c.1295G>A (p.Arg432His)
NM_002087.4(GRN):c.129T>C (p.Arg43=) rs2143325907
NM_002087.4(GRN):c.1316C>G (p.Pro439Arg)
NM_002087.4(GRN):c.1317_1318del (p.Asp441fs)
NM_002087.4(GRN):c.1326C>G (p.Ile442Met)
NM_002087.4(GRN):c.1326C>T (p.Ile442=) rs748758630
NM_002087.4(GRN):c.1327G>C (p.Gly443Arg)
NM_002087.4(GRN):c.1337A>T (p.Gln446Leu)
NM_002087.4(GRN):c.1343C>T (p.Thr448Ile)
NM_002087.4(GRN):c.1344C>G (p.Thr448=)
NM_002087.4(GRN):c.1344C>T (p.Thr448=)
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.1374G>A (p.Pro458=)
NM_002087.4(GRN):c.1374G>C (p.Pro458=)
NM_002087.4(GRN):c.138+13C>G
NM_002087.4(GRN):c.138+1G>A rs63749844
NM_002087.4(GRN):c.139-10_139-7del
NM_002087.4(GRN):c.139-12C>G
NM_002087.4(GRN):c.139-13C>T
NM_002087.4(GRN):c.139-18T>C
NM_002087.4(GRN):c.1395C>T (p.Ala465=) rs2143346048
NM_002087.4(GRN):c.139G>A (p.Asp47Asn) rs1239690384
NM_002087.4(GRN):c.1413+20C>T
NM_002087.4(GRN):c.1413T>C (p.His471=)
NM_002087.4(GRN):c.1414-15_1591del
NM_002087.4(GRN):c.1414-2A>G rs1555611412
NM_002087.4(GRN):c.1414-6C>T
NM_002087.4(GRN):c.1414-9C>T
NM_002087.4(GRN):c.1423T>C (p.Cys475Arg)
NM_002087.4(GRN):c.1426G>A (p.Glu476Lys)
NM_002087.4(GRN):c.1434C>T (p.Arg478=)
NM_002087.4(GRN):c.1464C>T (p.Cys488=) rs1253276640
NM_002087.4(GRN):c.1467C>T (p.Asn489=)
NM_002087.4(GRN):c.1468G>A (p.Val490Met) rs886053006
NM_002087.4(GRN):c.147G>C (p.Trp49Cys)
NM_002087.4(GRN):c.1482C>T (p.Ser494=)
NM_002087.4(GRN):c.1483T>C (p.Cys495Arg)
NM_002087.4(GRN):c.1492_1495del (p.Glu498fs)
NM_002087.4(GRN):c.1497G>A (p.Val499=) rs375682522
NM_002087.4(GRN):c.1497G>C (p.Val499=) rs375682522
NM_002087.4(GRN):c.1497G>T (p.Val499=)
NM_002087.4(GRN):c.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.1527C>T (p.Ala509=)
NM_002087.4(GRN):c.1528C>T (p.Arg510Cys)
NM_002087.4(GRN):c.1529G>A (p.Arg510His)
NM_002087.4(GRN):c.1548G>T (p.Val516=) rs1044281109
NM_002087.4(GRN):c.1554C>T (p.Asp518=)
NM_002087.4(GRN):c.1560G>A (p.Glu520=)
NM_002087.4(GRN):c.1561T>G (p.Cys521Gly)
NM_002087.4(GRN):c.1570G>C (p.Gly524Arg)
NM_002087.4(GRN):c.1571G>T (p.Gly524Val)
NM_002087.4(GRN):c.1575C>T (p.His525=)
NM_002087.4(GRN):c.1578C>T (p.Phe526=) rs2143348471
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.1644+10A>T
NM_002087.4(GRN):c.1644+13C>A rs1219352976
NM_002087.4(GRN):c.1644+20C>T
NM_002087.4(GRN):c.1645-15C>G rs1292365225
NM_002087.4(GRN):c.1645-17C>T
NM_002087.4(GRN):c.1645-19C>T
NM_002087.4(GRN):c.1645-20G>A rs368901283
NM_002087.4(GRN):c.1645-20G>T
NM_002087.4(GRN):c.1664G>A (p.Arg555Gln)
NM_002087.4(GRN):c.1665G>T (p.Arg555=)
NM_002087.4(GRN):c.1669C>T (p.His557Tyr) rs1415695846
NM_002087.4(GRN):c.1674C>T (p.Cys558=)
NM_002087.4(GRN):c.1683T>C (p.Ala561=)
NM_002087.4(GRN):c.1686C>T (p.Gly562=)
NM_002087.4(GRN):c.168T>C (p.His56=)
NM_002087.4(GRN):c.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.1698A>C (p.Ala566=)
NM_002087.4(GRN):c.1706G>A (p.Gly569Asp)
NM_002087.4(GRN):c.1707T>C (p.Gly569=)
NM_002087.4(GRN):c.1708A>G (p.Thr570Ala)
NM_002087.4(GRN):c.170T>G (p.Leu57Arg) rs545762769
NM_002087.4(GRN):c.1719G>A (p.Leu573=) rs781110932
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.1731C>T (p.Ala577=)
NM_002087.4(GRN):c.1733C>T (p.Pro578Leu)
NM_002087.4(GRN):c.1734G>A (p.Pro578=)
NM_002087.4(GRN):c.1743C>T (p.Asp581=) rs1442769378
NM_002087.4(GRN):c.1744G>A (p.Ala582Thr)
NM_002087.4(GRN):c.1752G>A (p.Leu584=)
NM_002087.4(GRN):c.1759C>T (p.Pro587Ser)
NM_002087.4(GRN):c.1764C>T (p.Ala588=)
NM_002087.4(GRN):c.176G>C (p.Gly59Ala)
NM_002087.4(GRN):c.1770A>G (p.Arg590=)
NM_002087.4(GRN):c.1775T>C (p.Leu592Pro)
NM_002087.4(GRN):c.180dup (p.Cys61fs)
NM_002087.4(GRN):c.182G>A (p.Cys61Tyr)
NM_002087.4(GRN):c.186G>A (p.Gln62=)
NM_002087.4(GRN):c.18C>G (p.Ser6Arg)
NM_002087.4(GRN):c.18C>T (p.Ser6=)
NM_002087.4(GRN):c.190G>A (p.Asp64Asn)
NM_002087.4(GRN):c.198C>T (p.His66=)
NM_002087.4(GRN):c.19T>G (p.Trp7Gly)
NM_002087.4(GRN):c.1A>G (p.Met1Val) rs746037872
NM_002087.4(GRN):c.206C>A (p.Ala69Asp)
NM_002087.4(GRN):c.207C>T (p.Ala69=)
NM_002087.4(GRN):c.212A>G (p.His71Arg)
NM_002087.4(GRN):c.215C>T (p.Ser72Phe)
NM_002087.4(GRN):c.234_235del (p.Gly79fs) rs63750373
NM_002087.4(GRN):c.240T>C (p.Thr80=) rs748557876
NM_002087.4(GRN):c.243C>T (p.Ser81=)
NM_002087.4(GRN):c.24G>A (p.Val8=)
NM_002087.4(GRN):c.258C>G (p.Phe86Leu)
NM_002087.4(GRN):c.258C>T (p.Phe86=)
NM_002087.4(GRN):c.263A>C (p.Glu88Ala)
NM_002087.4(GRN):c.264+13T>C
NM_002087.4(GRN):c.264+1G>A rs1567885728
NM_002087.4(GRN):c.264+1del
NM_002087.4(GRN):c.264+3G>T
NM_002087.4(GRN):c.264+6C>T
NM_002087.4(GRN):c.264+7G>C
NM_002087.4(GRN):c.265-13C>G
NM_002087.4(GRN):c.265-2A>T
NM_002087.4(GRN):c.265-2del
NM_002087.4(GRN):c.265-7T>C
NM_002087.4(GRN):c.26C>A (p.Ala9Asp) rs63751243
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.285C>T (p.Gly95=)
NM_002087.4(GRN):c.291C>T (p.His97=)
NM_002087.4(GRN):c.295_308del (p.Cys99fs)
NM_002087.4(GRN):c.299del (p.Pro100fs) rs2048353899
NM_002087.4(GRN):c.301C>A (p.Arg101=)
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.321A>C (p.Ala107=) rs1459426505
NM_002087.4(GRN):c.324C>T (p.Asp108=)
NM_002087.4(GRN):c.328C>T (p.Arg110Ter) rs63750411
NM_002087.4(GRN):c.332C>T (p.Ser111Phe) rs1354832051
NM_002087.4(GRN):c.339C>T (p.Phe113=)
NM_002087.4(GRN):c.348A>C (p.Ser116=)
NM_002087.4(GRN):c.349+11G>A
NM_002087.4(GRN):c.349+12G>C
NM_002087.4(GRN):c.349+15T>A
NM_002087.4(GRN):c.349+16G>C rs901525268
NM_002087.4(GRN):c.349+18del
NM_002087.4(GRN):c.349+19T>C
NM_002087.4(GRN):c.349+1G>C rs1598363083
NM_002087.4(GRN):c.350-13A>G
NM_002087.4(GRN):c.350-9T>C
NM_002087.4(GRN):c.350G>A (p.Gly117Asp) rs758131649
NM_002087.4(GRN):c.351T>G (p.Gly117=) rs2143331256
NM_002087.4(GRN):c.352AAC[1] (p.Asn119del) rs758168578
NM_002087.4(GRN):c.378C>T (p.Cys126=)
NM_002087.4(GRN):c.379C>G (p.Pro127Ala)
NM_002087.4(GRN):c.383_386del (p.Asp128fs) rs2048359069
NM_002087.4(GRN):c.388C>T (p.Gln130Ter)
NM_002087.4(GRN):c.388_391del (p.Gln130fs) rs63749801
NM_002087.4(GRN):c.393C>A (p.Phe131Leu)
NM_002087.4(GRN):c.393C>T (p.Phe131=) rs149180605
NM_002087.4(GRN):c.39dup (p.Leu14fs) rs2143325096
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.414G>A (p.Thr138=) rs543344476
NM_002087.4(GRN):c.414G>C (p.Thr138=) rs543344476
NM_002087.4(GRN):c.423T>G (p.Val141=)
NM_002087.4(GRN):c.427G>T (p.Val143Phe) rs1194653265
NM_002087.4(GRN):c.456_457delinsAT (p.Met152_Pro153delinsIleSer) rs2143332050
NM_002087.4(GRN):c.462+13G>A
NM_002087.4(GRN):c.462+16A>G
NM_002087.4(GRN):c.462+20G>A
NM_002087.4(GRN):c.463-5C>G rs1475553309
NM_002087.4(GRN):c.463-6dup rs780699082
NM_002087.4(GRN):c.468_474del (p.Cys157fs) rs63750247
NM_002087.4(GRN):c.472_496dup (p.Pro166delinsLeuTer)
NM_002087.4(GRN):c.474T>C (p.Cys158=)
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.549C>T (p.Gly183=) rs2143333571
NM_002087.4(GRN):c.554A>G (p.His185Arg)
NM_002087.4(GRN):c.562G>A (p.Ala188Thr)
NM_002087.4(GRN):c.573C>T (p.Leu191=)
NM_002087.4(GRN):c.582G>A (p.Gln194=)
NM_002087.4(GRN):c.591C>G (p.Asn197Lys)
NM_002087.4(GRN):c.592_593del (p.Arg198fs) rs1555611136
NM_002087.4(GRN):c.599-10C>T
NM_002087.4(GRN):c.599-11T>A
NM_002087.4(GRN):c.599-18C>T
NM_002087.4(GRN):c.599-1G>A rs1555611154
NM_002087.4(GRN):c.599-8T>C
NM_002087.4(GRN):c.5G>A (p.Trp2Ter)
NM_002087.4(GRN):c.614C>A (p.Ser205Ter) rs777211749
NM_002087.4(GRN):c.614C>T (p.Ser205Leu)
NM_002087.4(GRN):c.632C>T (p.Ala211Val)
NM_002087.4(GRN):c.636G>A (p.Arg212=)
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.657T>A (p.Ser219=)
NM_002087.4(GRN):c.657T>C (p.Ser219=)
NM_002087.4(GRN):c.658A>G (p.Thr220Ala) rs63750683
NM_002087.4(GRN):c.660C>G (p.Thr220=) rs1416699369
NM_002087.4(GRN):c.665G>A (p.Cys222Tyr)
NM_002087.4(GRN):c.673C>T (p.Pro225Ser)
NM_002087.4(GRN):c.675_676del (p.Ser226fs) rs63751085
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+15G>A rs765540363
NM_002087.4(GRN):c.708+1G>C rs63749817
NM_002087.4(GRN):c.708+20C>T
NM_002087.4(GRN):c.708+2dup rs2143335568
NM_002087.4(GRN):c.708+6_708+9del rs778599933
NM_002087.4(GRN):c.709-2A>G rs63750548
NM_002087.4(GRN):c.711del (p.Thr238fs)
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.741C>T (p.Cys247=)
NM_002087.4(GRN):c.743C>T (p.Pro248Leu) rs63750344
NM_002087.4(GRN):c.744C>G (p.Pro248=)
NM_002087.4(GRN):c.752C>G (p.Thr251Ser)
NM_002087.4(GRN):c.753T>C (p.Thr251=)
NM_002087.4(GRN):c.768_769dup (p.Gln257fs) rs1567887004
NM_002087.4(GRN):c.773G>A (p.Ser258Asn) rs63751000
NM_002087.4(GRN):c.775_778del (p.Lys259fs) rs2143337849
NM_002087.4(GRN):c.781C>T (p.Leu261Phe)
NM_002087.4(GRN):c.784T>C (p.Ser262Pro)
NM_002087.4(GRN):c.784_787del (p.Ser262fs)
NM_002087.4(GRN):c.795C>T (p.Asn265=)
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.808C>T (p.Leu270Phe) rs1567887059
NM_002087.4(GRN):c.80dup (p.Val28fs) rs1392550887
NM_002087.4(GRN):c.813_816del (p.Thr272fs) rs63749877
NM_002087.4(GRN):c.817A>G (p.Lys273Glu)
NM_002087.4(GRN):c.824C>T (p.Pro275Leu)
NM_002087.4(GRN):c.828G>A (p.Ala276=)
NM_002087.4(GRN):c.835+1G>A rs606231221
NM_002087.4(GRN):c.836-14T>G
NM_002087.4(GRN):c.836-19CT[2]
NM_002087.4(GRN):c.836-1G>C rs63751296
NM_002087.4(GRN):c.836-5C>G
NM_002087.4(GRN):c.836-7C>T rs1598364646
NM_002087.4(GRN):c.857T>C (p.Met286Thr)
NM_002087.4(GRN):c.86C>T (p.Ala29Val)
NM_002087.4(GRN):c.873A>G (p.Pro291=)
NM_002087.4(GRN):c.873A>T (p.Pro291=) rs2143339424
NM_002087.4(GRN):c.879C>G (p.Gly293=) rs764968816
NM_002087.4(GRN):c.87C>A (p.Ala29=)
NM_002087.4(GRN):c.87dup (p.Cys30fs) rs794729672
NM_002087.4(GRN):c.882T>C (p.Tyr294=) rs794729670
NM_002087.4(GRN):c.893G>A (p.Arg298His)
NM_002087.4(GRN):c.895C>T (p.Leu299=)
NM_002087.4(GRN):c.898C>T (p.Gln300Ter) rs1555611253
NM_002087.4(GRN):c.8C>G (p.Thr3Ser) rs375939802
NM_002087.4(GRN):c.8C>T (p.Thr3Ile)
NM_002087.4(GRN):c.910_911dup (p.Trp304fs)
NM_002087.4(GRN):c.911G>A (p.Trp304Ter) rs63751177
NM_002087.4(GRN):c.932A>T (p.Gln311Leu)
NM_002087.4(GRN):c.933+10G>A
NM_002087.4(GRN):c.933+11del
NM_002087.4(GRN):c.933+16G>A
NM_002087.4(GRN):c.933+1G>A rs63750707
NM_002087.4(GRN):c.933+5C>G
NM_002087.4(GRN):c.933+5C>T
NM_002087.4(GRN):c.933+7A>T rs1598364800
NM_002087.4(GRN):c.934-11_936del
NM_002087.4(GRN):c.934-1G>A rs2143340416
NM_002087.4(GRN):c.934-8del rs1567887447
NM_002087.4(GRN):c.934-9C>T
NM_002087.4(GRN):c.935C>T (p.Ala312Val)
NM_002087.4(GRN):c.954C>T (p.His318=)
NM_002087.4(GRN):c.96G>C (p.Leu32=)
NM_002087.4(GRN):c.980C>T (p.Thr327Met)
NM_002087.4(GRN):c.991C>T (p.Gln331Ter) rs1567887496
NM_002087.4(GRN):c.998G>T (p.Gly333Val)
NM_002087.4(GRN):c.99C>A (p.Asp33Glu) rs63750742
NM_002087.4(GRN):c.99C>T (p.Asp33=) rs63750742
NM_003793.4(CTSF):c.109C>G (p.Pro37Ala)
NM_003793.4(CTSF):c.1140C>G (p.Ser380=) rs143674429
NM_003793.4(CTSF):c.1166-7A>G
NM_003793.4(CTSF):c.1198A>G (p.Ile400Val)
NM_003793.4(CTSF):c.1231-13_1231-11del
NM_003793.4(CTSF):c.1267C>T (p.Leu423Phe)
NM_003793.4(CTSF):c.1285A>G (p.Ile429Val)
NM_003793.4(CTSF):c.1296G>A (p.Ala432=)
NM_003793.4(CTSF):c.1314C>T (p.Tyr438=)
NM_003793.4(CTSF):c.1321+9C>T
NM_003793.4(CTSF):c.1322-14G>A
NM_003793.4(CTSF):c.133T>C (p.Phe45Leu)
NM_003793.4(CTSF):c.1350del (p.Asn451fs) rs1565311637
NM_003793.4(CTSF):c.1380+13G>A
NM_003793.4(CTSF):c.1380+19del
NM_003793.4(CTSF):c.160C>A (p.Arg54=) rs776443007
NM_003793.4(CTSF):c.171G>C (p.Gly57=)
NM_003793.4(CTSF):c.200_205dup (p.Gly67_Arg68dup) rs772656687
NM_003793.4(CTSF):c.206T>G (p.Val69Gly)
NM_003793.4(CTSF):c.245_256del (p.Ala82_Glu85del)
NM_003793.4(CTSF):c.258G>A (p.Glu86=)
NM_003793.4(CTSF):c.280G>A (p.Val94Met)
NM_003793.4(CTSF):c.342C>G (p.Leu114=)
NM_003793.4(CTSF):c.42C>G (p.Leu14=)
NM_003793.4(CTSF):c.450T>C (p.Ser150=)
NM_003793.4(CTSF):c.473A>G (p.Asn158Ser)
NM_003793.4(CTSF):c.594T>A (p.Tyr198Ter) rs758004789
NM_003793.4(CTSF):c.614G>A (p.Arg205Gln) rs142782021
NM_003793.4(CTSF):c.614G>T (p.Arg205Leu) rs142782021
NM_003793.4(CTSF):c.64G>T (p.Ala22Ser)
NM_003793.4(CTSF):c.664C>T (p.Gln222Ter)
NM_003793.4(CTSF):c.722-4G>A
NM_003793.4(CTSF):c.76G>C (p.Ala26Pro)
NM_003793.4(CTSF):c.867+8C>T
NM_003793.4(CTSF):c.888G>T (p.Trp296Cys)
NM_003793.4(CTSF):c.933C>T (p.Asn311=)
NM_003793.4(CTSF):c.955T>G (p.Ser319Ala) rs1857917135
NM_003793.4(CTSF):c.956C>T (p.Ser319Phe)
NM_003793.4(CTSF):c.972G>A (p.Leu324=)
NM_003793.4(CTSF):c.988G>A (p.Asp330Asn) rs750069810
NM_003793.4(CTSF):c.992del (p.Lys331fs)
NM_006493.2(CLN5):c.101C>A (p.Pro34Gln)
NM_006493.2(CLN5):c.102G>A (p.Pro34=)
NM_006493.2(CLN5):c.102G>C (p.Pro34=)
NM_006493.2(CLN5):c.104C>T (p.Ala35Val)
NM_006493.2(CLN5):c.107C>A (p.Ser36Ter)
NM_006493.2(CLN5):c.107C>T (p.Ser36Leu)
NM_006493.2(CLN5):c.10A>T (p.Asn4Tyr) rs1336864663
NM_006493.2(CLN5):c.10_22delAACCTGCGCTTGG (p.Asn4Glyfs)
NM_006493.2(CLN5):c.111G>A (p.Gln37=) rs1593906853
NM_006493.2(CLN5):c.116C>A (p.Ser39Ter) rs61504484
NM_006493.2(CLN5):c.117G>A (p.Ser39=)
NM_006493.2(CLN5):c.120A>G (p.Arg40=)
NM_006493.2(CLN5):c.129A>G (p.Gly43=)
NM_006493.2(CLN5):c.15G>C (p.Leu5=)
NM_006493.2(CLN5):c.16C>A (p.Arg6Ser)
NM_006493.2(CLN5):c.17G>T (p.Arg6Leu) rs1391354551
NM_006493.2(CLN5):c.19T>C (p.Leu7=)
NM_006493.2(CLN5):c.20T>C (p.Leu7Ser)
NM_006493.2(CLN5):c.24G>T (p.Gly8=)
NM_006493.2(CLN5):c.25C>A (p.Pro9Thr)
NM_006493.2(CLN5):c.2T>A (p.Met1Lys) rs201615354
NM_006493.2(CLN5):c.31T>A (p.Ser11Thr)
NM_006493.2(CLN5):c.31T>G (p.Ser11Ala)
NM_006493.2(CLN5):c.32C>G (p.Ser11Cys)
NM_006493.2(CLN5):c.33T>C (p.Ser11=)
NM_006493.2(CLN5):c.36A>C (p.Gly12=)
NM_006493.2(CLN5):c.39T>C (p.Ala13=)
NM_006493.2(CLN5):c.42C>G (p.Asp14Glu) rs1259746826
NM_006493.2(CLN5):c.45G>A (p.Ala15=)
NM_006493.2(CLN5):c.45G>C (p.Ala15=)
NM_006493.2(CLN5):c.48G>A (p.Gln16=)
NM_006493.2(CLN5):c.50G>A (p.Gly17Glu) rs769990158
NM_006493.2(CLN5):c.51G>A (p.Gly17=)
NM_006493.2(CLN5):c.51G>C (p.Gly17=) rs763032153
NM_006493.2(CLN5):c.51G>T (p.Gly17=)
NM_006493.2(CLN5):c.52C>A (p.Gln18Lys) rs773979248
NM_006493.2(CLN5):c.53A>G (p.Gln18Arg) rs1287993760
NM_006493.2(CLN5):c.54A>C (p.Gln18His)
NM_006493.2(CLN5):c.64C>G (p.Arg22Gly)
NM_006493.2(CLN5):c.64C>T (p.Arg22Cys) rs558597827
NM_006493.2(CLN5):c.6C>G (p.Arg2=)
NM_006493.2(CLN5):c.78G>A (p.Ala26=)
NM_006493.2(CLN5):c.82C>T (p.Pro28Ser)
NM_006493.3(CLN5):c.-126G>T (p.Gly8Trp) rs762873839
NM_006493.4(CLN5):c.-10G>C rs1470454519
NM_006493.4(CLN5):c.-11G>A rs774598730
NM_006493.4(CLN5):c.-13T>C rs2034184700
NM_006493.4(CLN5):c.-1G>C rs2154034238
NM_006493.4(CLN5):c.-23C>T rs949213778
NM_006493.4(CLN5):c.-3C>T rs1593906921
NM_006493.4(CLN5):c.-75C>G rs754544785
NM_006493.4(CLN5):c.-7C>T
NM_006493.4(CLN5):c.-86C>G rs988786332
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.-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.1014del (p.Phe338fs)
NM_006493.4(CLN5):c.1021A>G (p.Ile341Val)
NM_006493.4(CLN5):c.1022T>C (p.Ile341Thr)
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer) rs386833969
NM_006493.4(CLN5):c.1038C>A (p.Ile346=)
NM_006493.4(CLN5):c.1041_1042delinsCC (p.Pro347_Leu348=)
NM_006493.4(CLN5):c.1051A>G (p.Arg351Gly) rs2154035217
NM_006493.4(CLN5):c.1053A>G (p.Arg351=)
NM_006493.4(CLN5):c.1057A>G (p.Lys353Glu)
NM_006493.4(CLN5):c.105C>G (p.Leu35=)
NM_006493.4(CLN5):c.1065C>A (p.Leu355=) rs1593915385
NM_006493.4(CLN5):c.1067_1068del (p.Ser356fs) rs796052345
NM_006493.4(CLN5):c.1072T>C (p.Leu358=) rs2154035221
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.109del (p.Val37fs)
NM_006493.4(CLN5):c.112_113insATCCGGGCTGG (p.Val38fs) rs1555273604
NM_006493.4(CLN5):c.112del (p.Val38fs) rs2034190303
NM_006493.4(CLN5):c.114T>A (p.Val38=)
NM_006493.4(CLN5):c.114T>C (p.Val38=) rs1453178211
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.129G>C (p.Arg43=)
NM_006493.4(CLN5):c.12G>C (p.Glu4Asp)
NM_006493.4(CLN5):c.132C>T (p.Val44=)
NM_006493.4(CLN5):c.134C>T (p.Ser45Leu)
NM_006493.4(CLN5):c.135G>A (p.Ser45=)
NM_006493.4(CLN5):c.141C>A (p.Ile47=) rs2034191533
NM_006493.4(CLN5):c.141C>T (p.Ile47=)
NM_006493.4(CLN5):c.144dup (p.Ser49fs) rs386833970
NM_006493.4(CLN5):c.147C>T (p.Ser49=)
NM_006493.4(CLN5):c.149G>A (p.Arg50Gln)
NM_006493.4(CLN5):c.150G>C (p.Arg50=) rs2034192027
NM_006493.4(CLN5):c.150G>T (p.Arg50=)
NM_006493.4(CLN5):c.153C>G (p.Arg51=) rs909356586
NM_006493.4(CLN5):c.155_167del (p.His52fs) rs1057517134
NM_006493.4(CLN5):c.156C>T (p.His52=)
NM_006493.4(CLN5):c.15A>G (p.Val5=) rs2034185809
NM_006493.4(CLN5):c.162G>A (p.Pro54=) rs754303449
NM_006493.4(CLN5):c.165G>A (p.Val55=)
NM_006493.4(CLN5):c.168del (p.Tyr57fs) rs2154034292
NM_006493.4(CLN5):c.170A>G (p.Tyr57Cys)
NM_006493.4(CLN5):c.172A>G (p.Lys58Glu)
NM_006493.4(CLN5):c.173+11C>T
NM_006493.4(CLN5):c.173+12G>A
NM_006493.4(CLN5):c.173+12G>C rs781182241
NM_006493.4(CLN5):c.173+13G>T
NM_006493.4(CLN5):c.173+13GC[6] rs751801723
NM_006493.4(CLN5):c.173+15G>C
NM_006493.4(CLN5):c.173+16C>T
NM_006493.4(CLN5):c.173+1G>A
NM_006493.4(CLN5):c.173+1G>T rs1739482158
NM_006493.4(CLN5):c.173+20C>T
NM_006493.4(CLN5):c.173+5G>A rs2034192763
NM_006493.4(CLN5):c.173+7GCG[2] rs2154034294
NM_006493.4(CLN5):c.173+9G>A rs931635211
NM_006493.4(CLN5):c.173+9G>C
NM_006493.4(CLN5):c.173+9G>T rs931635211
NM_006493.4(CLN5):c.174-19G>A
NM_006493.4(CLN5):c.174-20G>A
NM_006493.4(CLN5):c.174-3del rs777686161
NM_006493.4(CLN5):c.174-5A>G
NM_006493.4(CLN5):c.174-6T>C rs2154034620
NM_006493.4(CLN5):c.174-8_174-6del
NM_006493.4(CLN5):c.174-9_174-6del
NM_006493.4(CLN5):c.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.187del (p.Arg63fs) rs1555273881
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro) rs104894386
NM_006493.4(CLN5):c.188G>T (p.Arg63Leu)
NM_006493.4(CLN5):c.189T>C (p.Arg63=) rs2154034624
NM_006493.4(CLN5):c.192A>G (p.Pro64=)
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.204T>G (p.Pro68=) rs2154034627
NM_006493.4(CLN5):c.207_213del (p.Pro68_Tyr69insTer) rs2034242246
NM_006493.4(CLN5):c.213A>G (p.Gln71=)
NM_006493.4(CLN5):c.215C>G (p.Ala72Gly)
NM_006493.4(CLN5):c.215C>T (p.Ala72Val) rs2154034628
NM_006493.4(CLN5):c.216del (p.Lys73fs)
NM_006493.4(CLN5):c.21G>A (p.Thr7=) rs1057521258
NM_006493.4(CLN5):c.21G>C (p.Thr7=) rs1057521258
NM_006493.4(CLN5):c.222T>C (p.Tyr74=) rs1389509356
NM_006493.4(CLN5):c.224C>T (p.Thr75Ile) rs376336781
NM_006493.4(CLN5):c.228C>T (p.Phe76=)
NM_006493.4(CLN5):c.229T>A (p.Cys77Ser) rs2034242824
NM_006493.4(CLN5):c.230G>A (p.Cys77Tyr) rs267606738
NM_006493.4(CLN5):c.231T>C (p.Cys77=)
NM_006493.4(CLN5):c.236C>T (p.Thr79Ile)
NM_006493.4(CLN5):c.240C>T (p.Gly80=)
NM_006493.4(CLN5):c.242C>A (p.Ser81Ter)
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.24A>C (p.Ala8=) rs757756318
NM_006493.4(CLN5):c.251_252del (p.Pro84fs) rs2154034636
NM_006493.4(CLN5):c.270T>A (p.Asp90Glu) rs898862493
NM_006493.4(CLN5):c.270T>C (p.Asp90=) 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.289T>C (p.Leu97=)
NM_006493.4(CLN5):c.291A>C (p.Leu97Phe) rs2154034643
NM_006493.4(CLN5):c.303A>G (p.Val101=)
NM_006493.4(CLN5):c.303A>T (p.Val101=) rs2154034645
NM_006493.4(CLN5):c.30C>A (p.Gly10=) rs756651200
NM_006493.4(CLN5):c.30C>G (p.Gly10=)
NM_006493.4(CLN5):c.312T>C (p.Phe104=)
NM_006493.4(CLN5):c.321A>G (p.Gly107=)
NM_006493.4(CLN5):c.327C>A (p.Leu109=)
NM_006493.4(CLN5):c.335A>T (p.His112Leu)
NM_006493.4(CLN5):c.336C>G (p.His112Gln) rs2034245418
NM_006493.4(CLN5):c.336C>T (p.His112=) rs2034245418
NM_006493.4(CLN5):c.337T>C (p.Leu113=)
NM_006493.4(CLN5):c.339+13C>T rs2154034651
NM_006493.4(CLN5):c.339+15T>C
NM_006493.4(CLN5):c.339+17G>A
NM_006493.4(CLN5):c.339+19C>A
NM_006493.4(CLN5):c.339+1G>A
NM_006493.4(CLN5):c.339+1G>T
NM_006493.4(CLN5):c.339+7A>G
NM_006493.4(CLN5):c.339G>C (p.Leu113Phe) rs147214555
NM_006493.4(CLN5):c.33C>G (p.Ala11=) rs530381028
NM_006493.4(CLN5):c.33C>T (p.Ala11=)
NM_006493.4(CLN5):c.340-12G>A rs1416088608
NM_006493.4(CLN5):c.340-1G>C
NM_006493.4(CLN5):c.340-1del rs1057516390
NM_006493.4(CLN5):c.340-52_365delinsTAACGGG
NM_006493.4(CLN5):c.340-8T>C rs2154034704
NM_006493.4(CLN5):c.347T>C (p.Met116Thr) rs2154034705
NM_006493.4(CLN5):c.351T>C (p.His117=)
NM_006493.4(CLN5):c.354T>C (p.Asp118=)
NM_006493.4(CLN5):c.358A>G (p.Ile120Val) rs1231886495
NM_006493.4(CLN5):c.359T>C (p.Ile120Thr)
NM_006493.4(CLN5):c.375A>G (p.Thr125=)
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) rs386833972
NM_006493.4(CLN5):c.37A>G (p.Met13Val)
NM_006493.4(CLN5):c.381T>A (p.Thr127=) rs34481987
NM_006493.4(CLN5):c.387G>A (p.Lys129=)
NM_006493.4(CLN5):c.38T>C (p.Met13Thr) rs1007145426
NM_006493.4(CLN5):c.391T>C (p.Tyr131His)
NM_006493.4(CLN5):c.393C>T (p.Tyr131=)
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.404G>A (p.Trp135Ter) rs2154034716
NM_006493.4(CLN5):c.411A>G (p.Glu137=)
NM_006493.4(CLN5):c.422T>C (p.Leu141Pro)
NM_006493.4(CLN5):c.426C>G (p.Gly142=) rs2034259868
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser) rs386833975
NM_006493.4(CLN5):c.431_432del (p.Cys144fs)
NM_006493.4(CLN5):c.438del (p.His148fs) rs1555273992
NM_006493.4(CLN5):c.43C>T (p.Arg15Trp) rs772949539
NM_006493.4(CLN5):c.441C>G (p.Pro147=)
NM_006493.4(CLN5):c.441_442dup (p.His148fs)
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.447C>T (p.Leu149=) rs1593911107
NM_006493.4(CLN5):c.449G>A (p.Arg150Gln) rs1014000261
NM_006493.4(CLN5):c.450A>G (p.Arg150=)
NM_006493.4(CLN5):c.451C>T (p.Pro151Ser) rs777080820
NM_006493.4(CLN5):c.45G>C (p.Arg15=)
NM_006493.4(CLN5):c.460G>C (p.Asp154His)
NM_006493.4(CLN5):c.462T>C (p.Asp154=) rs2154034733
NM_006493.4(CLN5):c.464C>T (p.Ala155Val) rs2154034734
NM_006493.4(CLN5):c.465C>T (p.Ala155=) rs1480870613
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.480T>C (p.Asn160=)
NM_006493.4(CLN5):c.486C>A (p.Gly162=)
NM_006493.4(CLN5):c.486C>G (p.Gly162=)
NM_006493.4(CLN5):c.489T>C (p.Ala163=) rs1593911173
NM_006493.4(CLN5):c.48C>A (p.Gly16=)
NM_006493.4(CLN5):c.48C>G (p.Gly16=)
NM_006493.4(CLN5):c.48C>T (p.Gly16=) rs1448304779
NM_006493.4(CLN5):c.492C>T (p.Ala164=)
NM_006493.4(CLN5):c.495C>T (p.Cys165=) rs2034262211
NM_006493.4(CLN5):c.498T>C (p.Phe166=)
NM_006493.4(CLN5):c.500T>C (p.Phe167Ser) rs1393893027
NM_006493.4(CLN5):c.513T>C (p.Asp171=)
NM_006493.4(CLN5):c.515A>G (p.Asp172Gly)
NM_006493.4(CLN5):c.51G>A (p.Ala17=)
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) rs587780315
NM_006493.4(CLN5):c.529G>T (p.Glu177Ter)
NM_006493.4(CLN5):c.534T>C (p.Asn178=) rs1368956736
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.54C>T (p.Gly18=)
NM_006493.4(CLN5):c.550G>A (p.Val184Ile) rs1566219289
NM_006493.4(CLN5):c.555A>G (p.Ala185=) rs1422278737
NM_006493.4(CLN5):c.563C>T (p.Ser188Leu)
NM_006493.4(CLN5):c.565+10G>A
NM_006493.4(CLN5):c.565+17T>C
NM_006493.4(CLN5):c.565+19G>C rs756731673
NM_006493.4(CLN5):c.565+7del rs2154034753
NM_006493.4(CLN5):c.566-14T>C
NM_006493.4(CLN5):c.566-15G>A
NM_006493.4(CLN5):c.566-15G>T
NM_006493.4(CLN5):c.566-15_566-11del rs771601428
NM_006493.4(CLN5):c.566-20_566-19insA
NM_006493.4(CLN5):c.566-7A>C
NM_006493.4(CLN5):c.566-7A>G rs772501269
NM_006493.4(CLN5):c.566-8T>A rs2154035102
NM_006493.4(CLN5):c.566-8dup rs760343764
NM_006493.4(CLN5):c.566_*1548del (p.Gly189fs)
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.576C>T (p.Phe192=)
NM_006493.4(CLN5):c.580C>T (p.Gln194Ter) rs2154035107
NM_006493.4(CLN5):c.587C>T (p.Ala196Val) rs2034339472
NM_006493.4(CLN5):c.588A>G (p.Ala196=)
NM_006493.4(CLN5):c.591G>A (p.Lys197=) rs1402613512
NM_006493.4(CLN5):c.597G>A (p.Val199=) rs2154035110
NM_006493.4(CLN5):c.599_600insCA (p.Lys200fs) rs2154035111
NM_006493.4(CLN5):c.59C>T (p.Ala20Val)
NM_006493.4(CLN5):c.606C>T (p.Asp202=) rs2154035112
NM_006493.4(CLN5):c.606_618del (p.Asp202fs)
NM_006493.4(CLN5):c.609T>C (p.Asn203=)
NM_006493.4(CLN5):c.615A>G (p.Thr205=) rs769662577
NM_006493.4(CLN5):c.623_627del (p.Ile207_Tyr208insTer)
NM_006493.4(CLN5):c.625T>G (p.Tyr209Asp) rs386833981
NM_006493.4(CLN5):c.627T>G (p.Tyr209Ter) rs763980789
NM_006493.4(CLN5):c.62G>A (p.Arg21Gln) rs2034188293
NM_006493.4(CLN5):c.636G>A (p.Trp212Ter)
NM_006493.4(CLN5):c.639T>C (p.Asn213=)
NM_006493.4(CLN5):c.63G>A (p.Arg21=) rs1338752072
NM_006493.4(CLN5):c.63G>C (p.Arg21=) rs1338752072
NM_006493.4(CLN5):c.653dup (p.Glu219fs)
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.666A>G (p.Ala222=) rs1471280655
NM_006493.4(CLN5):c.669G>A (p.Glu223=)
NM_006493.4(CLN5):c.675G>A (p.Trp225Ter) rs1555274338
NM_006493.4(CLN5):c.675G>C (p.Trp225Cys) rs1555274338
NM_006493.4(CLN5):c.679del (p.Asp227fs) rs2154035131
NM_006493.4(CLN5):c.687C>G (p.Tyr229Ter)
NM_006493.4(CLN5):c.69C>A (p.Arg23=)
NM_006493.4(CLN5):c.69C>T (p.Arg23=)
NM_006493.4(CLN5):c.6G>T (p.Ala2=)
NM_006493.4(CLN5):c.702T>G (p.Phe234Leu) rs1593914834
NM_006493.4(CLN5):c.704T>C (p.Val235Ala) rs535755345
NM_006493.4(CLN5):c.705G>T (p.Val235=)
NM_006493.4(CLN5):c.705_706del (p.Leu236fs) rs1555274343
NM_006493.4(CLN5):c.713_720del (p.Thr238fs) rs1555274344
NM_006493.4(CLN5):c.714C>G (p.Thr238=) rs762726568
NM_006493.4(CLN5):c.720C>T (p.Asn240=) rs2154035139
NM_006493.4(CLN5):c.729T>C (p.Ala243=) rs1349247735
NM_006493.4(CLN5):c.739G>A (p.Ala247Thr)
NM_006493.4(CLN5):c.743_744dup (p.Phe249fs)
NM_006493.4(CLN5):c.745T>G (p.Phe249Val)
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.75C>G (p.Ser25=) rs2154034259
NM_006493.4(CLN5):c.762C>G (p.Thr254=) rs1195593976
NM_006493.4(CLN5):c.762C>T (p.Thr254=)
NM_006493.4(CLN5):c.764dup (p.Asn255fs)
NM_006493.4(CLN5):c.768T>C (p.Tyr256=)
NM_006493.4(CLN5):c.768T>G (p.Tyr256Ter)
NM_006493.4(CLN5):c.771A>G (p.Thr257=) rs2154035148
NM_006493.4(CLN5):c.772del (p.Arg258fs) rs386833982
NM_006493.4(CLN5):c.773G>T (p.Arg258Ile) rs376675270
NM_006493.4(CLN5):c.777_778del (p.Phe260fs) rs786204644
NM_006493.4(CLN5):c.77G>C (p.Trp26Ser) rs764790770
NM_006493.4(CLN5):c.786C>G (p.Tyr262Ter)
NM_006493.4(CLN5):c.788G>A (p.Ser263Asn) rs730882146
NM_006493.4(CLN5):c.78G>A (p.Trp26Ter) rs104894385
NM_006493.4(CLN5):c.793G>T (p.Glu265Ter) rs764495616
NM_006493.4(CLN5):c.798T>C (p.Pro266=) rs2034345081
NM_006493.4(CLN5):c.808_823del (p.Gly270fs) rs386833983
NM_006493.4(CLN5):c.812del (p.Asn271fs) rs2154035159
NM_006493.4(CLN5):c.818C>T (p.Thr273Ile)
NM_006493.4(CLN5):c.827_828del (p.Phe276fs) rs2154035166
NM_006493.4(CLN5):c.838_841del (p.Gly280fs) rs1555274365
NM_006493.4(CLN5):c.83G>A (p.Trp28Ter) rs1242337070
NM_006493.4(CLN5):c.844_845dup (p.Thr283fs) rs2034346369
NM_006493.4(CLN5):c.849T>C (p.Thr283=)
NM_006493.4(CLN5):c.84G>A (p.Trp28Ter) rs200348035
NM_006493.4(CLN5):c.84_96dup (p.Leu33fs) rs1271064370
NM_006493.4(CLN5):c.861C>T (p.Ala287=) rs2154035176
NM_006493.4(CLN5):c.866A>G (p.Lys289Arg)
NM_006493.4(CLN5):c.867A>G (p.Lys289=) rs2154035177
NM_006493.4(CLN5):c.875A>T (p.Tyr292Phe)
NM_006493.4(CLN5):c.87C>T (p.Ala29=)
NM_006493.4(CLN5):c.882dup (p.Phe295fs)
NM_006493.4(CLN5):c.885C>G (p.Phe295Leu) rs772050001
NM_006493.4(CLN5):c.889C>A (p.Pro297Thr)
NM_006493.4(CLN5):c.891A>G (p.Pro297=) rs2154035180
NM_006493.4(CLN5):c.902C>A (p.Thr301Asn) rs1298505272
NM_006493.4(CLN5):c.903T>C (p.Thr301=) rs1161385670
NM_006493.4(CLN5):c.907G>T (p.Glu303Ter) rs121908292
NM_006493.4(CLN5):c.913_914del (p.Leu305fs) rs2154035183
NM_006493.4(CLN5):c.915G>T (p.Leu305=)
NM_006493.4(CLN5):c.917del (p.Leu305_Leu306insTer) rs1555274373
NM_006493.4(CLN5):c.921T>C (p.Ser307=)
NM_006493.4(CLN5):c.924_925del (p.Leu309fs) rs386833964
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.936del (p.Phe312fs) rs386833966
NM_006493.4(CLN5):c.93G>T (p.Ala31=) rs971404954
NM_006493.4(CLN5):c.947T>G (p.Ile316Ser)
NM_006493.4(CLN5):c.94C>T (p.Leu32=)
NM_006493.4(CLN5):c.951G>A (p.Val317=) rs369238431
NM_006493.4(CLN5):c.954C>T (p.His318=)
NM_006493.4(CLN5):c.955A>G (p.Lys319Glu) rs202171514
NM_006493.4(CLN5):c.955_956delinsCG (p.Lys319Arg) rs2034348880
NM_006493.4(CLN5):c.956_957del (p.Lys319fs) rs2154035196
NM_006493.4(CLN5):c.956_959del (p.Lys319fs) rs386833967
NM_006493.4(CLN5):c.957A>G (p.Lys319=) rs1422809171
NM_006493.4(CLN5):c.958C>G (p.Gln320Glu)
NM_006493.4(CLN5):c.958C>T (p.Gln320Ter) rs750935331
NM_006493.4(CLN5):c.959A>G (p.Gln320Arg)
NM_006493.4(CLN5):c.963C>T (p.Phe321=) rs756149425
NM_006493.4(CLN5):c.965_968del (p.Tyr322fs) rs2034349431
NM_006493.4(CLN5):c.969G>A (p.Leu323=)
NM_006493.4(CLN5):c.96G>A (p.Leu32=) rs2154034270
NM_006493.4(CLN5):c.96G>T (p.Leu32=) rs2154034270
NM_006493.4(CLN5):c.975T>C (p.Tyr325=)
NM_006493.4(CLN5):c.978T>C (p.Asn326=) rs2154035200
NM_006493.4(CLN5):c.982G>T (p.Glu328Ter) rs2154035204
NM_006493.4(CLN5):c.984A>G (p.Glu328=) rs1593915252
NM_006493.4(CLN5):c.987T>G (p.Tyr329Ter) rs2034349886
NM_006493.4(CLN5):c.989G>A (p.Trp330Ter)
NM_006493.4(CLN5):c.98T>A (p.Leu33His)
NM_006493.4(CLN5):c.990G>A (p.Trp330Ter) rs386833968
NM_006493.4(CLN5):c.990G>T (p.Trp330Cys) rs386833968
NM_017882.3(CLN6):c.105T>C (p.Asp35=)
NM_017882.3(CLN6):c.108G>T (p.Glu36Asp) rs1226528243
NM_017882.3(CLN6):c.112G>T (p.Ala38Ser)
NM_017882.3(CLN6):c.114C>T (p.Ala38=) rs1219136331
NM_017882.3(CLN6):c.115C>G (p.Arg39Gly) rs142260866
NM_017882.3(CLN6):c.115C>T (p.Arg39Cys) rs142260866
NM_017882.3(CLN6):c.116G>A (p.Arg39His) rs779456928
NM_017882.3(CLN6):c.117C>A (p.Arg39=)
NM_017882.3(CLN6):c.119C>A (p.Thr40Lys) rs769199442
NM_017882.3(CLN6):c.119C>T (p.Thr40Met) rs769199442
NM_017882.3(CLN6):c.121del (p.Ala41fs) rs2141145116
NM_017882.3(CLN6):c.123T>A (p.Ala41=) rs2141145111
NM_017882.3(CLN6):c.124C>G (p.Pro42Ala) rs1003606439
NM_017882.3(CLN6):c.12G>A (p.Thr4=)
NM_017882.3(CLN6):c.132C>T (p.His44=)
NM_017882.3(CLN6):c.135C>A (p.Leu45=)
NM_017882.3(CLN6):c.135C>T (p.Leu45=) rs374577694
NM_017882.3(CLN6):c.138C>T (p.Asp46=) rs1595821372
NM_017882.3(CLN6):c.13C>A (p.Arg5=) rs886285802
NM_017882.3(CLN6):c.141C>T (p.Leu47=)
NM_017882.3(CLN6):c.146T>A (p.Phe49Tyr)
NM_017882.3(CLN6):c.149_150insATCCT (p.Tyr50Ter) rs2141145071
NM_017882.3(CLN6):c.14G>A (p.Arg5Gln) rs2093262797
NM_017882.3(CLN6):c.161A>G (p.Gln54Arg) rs2093226926
NM_017882.3(CLN6):c.163A>T (p.Asn55Tyr)
NM_017882.3(CLN6):c.168G>A (p.Trp56Ter)
NM_017882.3(CLN6):c.180_181del (p.Phe60fs)
NM_017882.3(CLN6):c.180dup (p.Gly61fs)
NM_017882.3(CLN6):c.183del (p.Arg62fs)
NM_017882.3(CLN6):c.185G>A (p.Arg62His) rs751486476
NM_017882.3(CLN6):c.190A>G (p.Ile64Val)
NM_017882.3(CLN6):c.195C>A (p.Ala65=)
NM_017882.3(CLN6):c.195C>T (p.Ala65=) rs1472031434
NM_017882.3(CLN6):c.196A>G (p.Met66Val) rs1430705796
NM_017882.3(CLN6):c.196dup (p.Met66fs) rs2141145023
NM_017882.3(CLN6):c.198+11A>C
NM_017882.3(CLN6):c.198+12A>G
NM_017882.3(CLN6):c.198+17G>A
NM_017882.3(CLN6):c.198+19A>C
NM_017882.3(CLN6):c.198+20C>T
NM_017882.3(CLN6):c.198+3G>C
NM_017882.3(CLN6):c.198+5G>A
NM_017882.3(CLN6):c.199-12T>C
NM_017882.3(CLN6):c.199-12T>G
NM_017882.3(CLN6):c.199-13A>G
NM_017882.3(CLN6):c.199-14C>A
NM_017882.3(CLN6):c.199-14C>T
NM_017882.3(CLN6):c.199-14del
NM_017882.3(CLN6):c.199-16T>A
NM_017882.3(CLN6):c.199-19dup rs1567096664
NM_017882.3(CLN6):c.199-6C>G
NM_017882.3(CLN6):c.199-6C>T
NM_017882.3(CLN6):c.199-7T>C
NM_017882.3(CLN6):c.1A>C (p.Met1Leu)
NM_017882.3(CLN6):c.202G>C (p.Val68Leu)
NM_017882.3(CLN6):c.204A>T (p.Val68=)
NM_017882.3(CLN6):c.207C>T (p.Phe69=) rs2093214789
NM_017882.3(CLN6):c.212T>G (p.Leu71Arg) rs1450871754
NM_017882.3(CLN6):c.213C>G (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.214G>A (p.Glu72Lys) rs104894483
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017882.3(CLN6):c.216G>A (p.Glu72=)
NM_017882.3(CLN6):c.219G>A (p.Trp73Ter)
NM_017882.3(CLN6):c.21G>A (p.Arg7=) rs2093262736
NM_017882.3(CLN6):c.224C>T (p.Pro75Leu) rs1595819607
NM_017882.3(CLN6):c.225A>C (p.Pro75=)
NM_017882.3(CLN6):c.225A>G (p.Pro75=) rs544291935
NM_017882.3(CLN6):c.230A>C (p.Asn77Thr) rs776974644
NM_017882.3(CLN6):c.247dup (p.Asp83fs)
NM_017882.3(CLN6):c.24G>A (p.Gln8=)
NM_017882.3(CLN6):c.252C>T (p.Tyr84=) rs2141141480
NM_017882.3(CLN6):c.255C>T (p.Phe85=)
NM_017882.3(CLN6):c.266_267insAATCCTA (p.Tyr89Ter)
NM_017882.3(CLN6):c.268A>G (p.Asn90Asp) rs2093214490
NM_017882.3(CLN6):c.268_271dup (p.Val91fs) rs786205067
NM_017882.3(CLN6):c.269A>T (p.Asn90Ile) rs2141141464
NM_017882.3(CLN6):c.270C>A (p.Asn90Lys)
NM_017882.3(CLN6):c.276C>G (p.Ile92Met)
NM_017882.3(CLN6):c.27C>T (p.His9=) rs2141156267
NM_017882.3(CLN6):c.284T>C (p.Phe95Ser)
NM_017882.3(CLN6):c.288C>G (p.Leu96=) rs2141141422
NM_017882.3(CLN6):c.288C>T (p.Leu96=)
NM_017882.3(CLN6):c.289_290dup (p.Leu97fs) rs2141141420
NM_017882.3(CLN6):c.28C>G (p.Leu10Val) rs1457277891
NM_017882.3(CLN6):c.28C>T (p.Leu10=) rs1457277891
NM_017882.3(CLN6):c.291G>A (p.Leu97=)
NM_017882.3(CLN6):c.294C>G (p.Leu98=) rs2141141419
NM_017882.3(CLN6):c.297+17C>T
NM_017882.3(CLN6):c.297+18C>G
NM_017882.3(CLN6):c.297+19del rs61224699
NM_017882.3(CLN6):c.297+1G>A rs796052351
NM_017882.3(CLN6):c.297+4C>T rs1030759897
NM_017882.3(CLN6):c.297+9C>T rs1258135795
NM_017882.3(CLN6):c.297G>C (p.Lys99Asn)
NM_017882.3(CLN6):c.298-13C>T
NM_017882.3(CLN6):c.298-14A>T
NM_017882.3(CLN6):c.298-16C>A
NM_017882.3(CLN6):c.298-17C>G
NM_017882.3(CLN6):c.298-1G>C rs1595818391
NM_017882.3(CLN6):c.298-20A>C
NM_017882.3(CLN6):c.298-3del rs1567095944
NM_017882.3(CLN6):c.298-8A>T rs2141139490
NM_017882.3(CLN6):c.299T>G (p.Leu100Arg) rs1555438702
NM_017882.3(CLN6):c.300C>T (p.Leu100=)
NM_017882.3(CLN6):c.303C>T (p.Ile101=) rs1369226101
NM_017882.3(CLN6):c.309G>A (p.Arg103=)
NM_017882.3(CLN6):c.309G>T (p.Arg103=) rs2141139457
NM_017882.3(CLN6):c.311C>T (p.Ser104Phe) rs777921628
NM_017882.3(CLN6):c.314C>T (p.Pro105Leu) rs769747737
NM_017882.3(CLN6):c.316C>G (p.Arg106Gly)
NM_017882.3(CLN6):c.316dup (p.Arg106fs) rs397515352
NM_017882.3(CLN6):c.321C>T (p.Thr107=) rs755184214
NM_017882.3(CLN6):c.324G>T (p.Leu108=) rs2093206574
NM_017882.3(CLN6):c.329G>T (p.Arg110Leu) rs140179213
NM_017882.3(CLN6):c.32G>C (p.Gly11Ala) rs2093262694
NM_017882.3(CLN6):c.330C>T (p.Arg110=)
NM_017882.3(CLN6):c.333C>T (p.Ser111=) rs995775001
NM_017882.3(CLN6):c.33A>G (p.Gly11=) rs2141156259
NM_017882.3(CLN6):c.342C>A (p.Tyr114Ter)
NM_017882.3(CLN6):c.342C>T (p.Tyr114=) rs765719755
NM_017882.3(CLN6):c.351C>T (p.Ile117=)
NM_017882.3(CLN6):c.354C>T (p.Ile118=) rs1555438691
NM_017882.3(CLN6):c.358_366del (p.Phe120_Met122del) rs1401381423
NM_017882.3(CLN6):c.360C>A (p.Phe120Leu) rs1362402324
NM_017882.3(CLN6):c.363C>G (p.Ile121Met) rs148547876
NM_017882.3(CLN6):c.363C>T (p.Ile121=)
NM_017882.3(CLN6):c.364A>G (p.Met122Val)
NM_017882.3(CLN6):c.365T>C (p.Met122Thr) rs2093206265
NM_017882.3(CLN6):c.366G>C (p.Met122Ile)
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp) rs104894484
NM_017882.3(CLN6):c.371C>T (p.Ala124Val) rs1567095879
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly) rs772893554
NM_017882.3(CLN6):c.375C>T (p.Ser125=) rs2093206218
NM_017882.3(CLN6):c.377T>C (p.Ile126Thr) rs2141139324
NM_017882.3(CLN6):c.384G>A (p.Leu128=)
NM_017882.3(CLN6):c.388G>A (p.Gly130Ser)
NM_017882.3(CLN6):c.395_396del (p.Ser132fs) rs774543080
NM_017882.3(CLN6):c.396T>G (p.Ser132=) rs949403836
NM_017882.3(CLN6):c.397_398del (p.Val133fs) rs766493088
NM_017882.3(CLN6):c.39G>C (p.Thr13=)
NM_017882.3(CLN6):c.3G>A (p.Met1Ile) rs2093262869
NM_017882.3(CLN6):c.401A>G (p.Asn134Ser)
NM_017882.3(CLN6):c.403C>G (p.His135Asp)
NM_017882.3(CLN6):c.405C>T (p.His135=)
NM_017882.3(CLN6):c.406C>T (p.Arg136Cys) rs1012449574
NM_017882.3(CLN6):c.407del (p.Arg136fs)
NM_017882.3(CLN6):c.40G>A (p.Gly14Ser) rs2093262651
NM_017882.3(CLN6):c.410T>A (p.Leu137Gln)
NM_017882.3(CLN6):c.411G>A (p.Leu137=) rs748062705
NM_017882.3(CLN6):c.412C>T (p.Leu138Phe)
NM_017882.3(CLN6):c.414C>G (p.Leu138=)
NM_017882.3(CLN6):c.414C>T (p.Leu138=) rs2093206040
NM_017882.3(CLN6):c.424dup (p.Tyr142fs)
NM_017882.3(CLN6):c.426C>G (p.Tyr142Ter)
NM_017882.3(CLN6):c.426C>T (p.Tyr142=) rs768766915
NM_017882.3(CLN6):c.429G>A (p.Gln143=)
NM_017882.3(CLN6):c.431A>G (p.His144Arg) rs1595818258
NM_017882.3(CLN6):c.441T>G (p.Ser147=) rs1595818241
NM_017882.3(CLN6):c.444C>G (p.Val148=) rs2141139200
NM_017882.3(CLN6):c.444C>T (p.Val148=)
NM_017882.3(CLN6):c.455C>G (p.Pro152Arg) rs2141139183
NM_017882.3(CLN6):c.456C>A (p.Pro152=) rs2141139176
NM_017882.3(CLN6):c.456del (p.Ile153fs)
NM_017882.3(CLN6):c.45C>T (p.Gly15=)
NM_017882.3(CLN6):c.462C>T (p.Ile154=) rs2141139170
NM_017882.3(CLN6):c.465G>A (p.Lys155=)
NM_017882.3(CLN6):c.471C>G (p.Leu157=)
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu) rs919850756
NM_017882.3(CLN6):c.483G>A (p.Thr161=) rs2141139146
NM_017882.3(CLN6):c.483G>T (p.Thr161=) rs2141139146
NM_017882.3(CLN6):c.486+11C>A
NM_017882.3(CLN6):c.486+11C>T
NM_017882.3(CLN6):c.486+12T>G
NM_017882.3(CLN6):c.486+13C>T
NM_017882.3(CLN6):c.486+15dup
NM_017882.3(CLN6):c.486+16G>A
NM_017882.3(CLN6):c.486+16dup
NM_017882.3(CLN6):c.486+17C>A
NM_017882.3(CLN6):c.486+19C>G
NM_017882.3(CLN6):c.486+1G>C rs756522171
NM_017882.3(CLN6):c.486+7C>G rs1481891129
NM_017882.3(CLN6):c.486+8C>A rs149692285
NM_017882.3(CLN6):c.487-10C>G
NM_017882.3(CLN6):c.487-10C>T rs778284215
NM_017882.3(CLN6):c.487-12T>A rs571940397
NM_017882.3(CLN6):c.487-19C>T rs2141138841
NM_017882.3(CLN6):c.487-1G>T
NM_017882.3(CLN6):c.487-5C>A
NM_017882.3(CLN6):c.487-7C>A
NM_017882.3(CLN6):c.487-7C>G rs2141138813
NM_017882.3(CLN6):c.487-7C>T rs2141138813
NM_017882.3(CLN6):c.487-9C>G
NM_017882.3(CLN6):c.48A>C (p.Pro16=)
NM_017882.3(CLN6):c.490G>A (p.Asp164Asn) rs779685727
NM_017882.3(CLN6):c.493T>C (p.Ser165Pro)
NM_017882.3(CLN6):c.494C>T (p.Ser165Phe) rs1595818025
NM_017882.3(CLN6):c.495C>T (p.Ser165=)
NM_017882.3(CLN6):c.497T>C (p.Phe166Ser) rs2093204354
NM_017882.3(CLN6):c.498dup (p.Glu167Ter) rs762902907
NM_017882.3(CLN6):c.4G>A (p.Glu2Lys) rs796052360
NM_017882.3(CLN6):c.501G>A (p.Glu167=)
NM_017882.3(CLN6):c.502C>T (p.Leu168=) rs2141138776
NM_017882.3(CLN6):c.504G>A (p.Leu168=)
NM_017882.3(CLN6):c.506T>A (p.Leu169His) rs1344658850
NM_017882.3(CLN6):c.507C>T (p.Leu169=) rs1273285939
NM_017882.3(CLN6):c.510C>A (p.Tyr170Ter)
NM_017882.3(CLN6):c.516TGA[1] (p.Asp173del) rs916824303
NM_017882.3(CLN6):c.519T>C (p.Asp173=) rs756942559
NM_017882.3(CLN6):c.525C>T (p.Tyr175=)
NM_017882.3(CLN6):c.526C>T (p.Leu176=) rs2141138733
NM_017882.3(CLN6):c.528G>A (p.Leu176=) rs2141138731
NM_017882.3(CLN6):c.528G>C (p.Leu176=) rs2141138731
NM_017882.3(CLN6):c.542+11G>A
NM_017882.3(CLN6):c.542+12G>T
NM_017882.3(CLN6):c.542+13C>G
NM_017882.3(CLN6):c.542+13C>T
NM_017882.3(CLN6):c.542+14C>T
NM_017882.3(CLN6):c.542+15del
NM_017882.3(CLN6):c.542+16A>T
NM_017882.3(CLN6):c.542+20G>A
NM_017882.3(CLN6):c.542+2T>C
NM_017882.3(CLN6):c.542+5G>T rs786205066
NM_017882.3(CLN6):c.542G>A (p.Trp181Ter) rs1380684360
NM_017882.3(CLN6):c.543-10C>A rs767297743
NM_017882.3(CLN6):c.543-13C>G
NM_017882.3(CLN6):c.543-17T>C
NM_017882.3(CLN6):c.543-19A>G
NM_017882.3(CLN6):c.543-2A>G rs2141137336
NM_017882.3(CLN6):c.543-8T>C
NM_017882.3(CLN6):c.543G>A (p.Trp181Ter) rs1555438443
NM_017882.3(CLN6):c.546C>T (p.Tyr182=) rs751550252
NM_017882.3(CLN6):c.546del (p.Trp181_Tyr182insTer)
NM_017882.3(CLN6):c.54G>A (p.Ala18=) rs1199248099
NM_017882.3(CLN6):c.551C>T (p.Pro184Leu)
NM_017882.3(CLN6):c.552C>T (p.Pro184=) rs1595817219
NM_017882.3(CLN6):c.553T>G (p.Phe185Val) rs2093199272
NM_017882.3(CLN6):c.553TTC[1] (p.Phe186del) rs2141137304
NM_017882.3(CLN6):c.555C>T (p.Phe185=) rs1595817218
NM_017882.3(CLN6):c.559C>T (p.Leu187Phe) rs764670832
NM_017882.3(CLN6):c.563T>C (p.Ile188Thr) rs763059017
NM_017882.3(CLN6):c.564C>T (p.Ile188=) rs371326037
NM_017882.3(CLN6):c.565C>T (p.Leu189Phe)
NM_017882.3(CLN6):c.567C>T (p.Leu189=) rs762214934
NM_017882.3(CLN6):c.570_572del (p.Phe190_Met191delinsLeu)
NM_017882.3(CLN6):c.571A>G (p.Met191Val) rs1555438435
NM_017882.3(CLN6):c.57G>C (p.Gln19His) rs2093262571
NM_017882.3(CLN6):c.583_596del (p.Gly195fs) rs2093199030
NM_017882.3(CLN6):c.588C>T (p.Cys196=) rs770515770
NM_017882.3(CLN6):c.597C>A (p.Ala199=)
NM_017882.3(CLN6):c.601A>T (p.Lys201Ter)
NM_017882.3(CLN6):c.602A>C (p.Lys201Thr) rs2141137255
NM_017882.3(CLN6):c.606T>C (p.Ala202=)
NM_017882.3(CLN6):c.609G>A (p.Glu203=) rs1026588122
NM_017882.3(CLN6):c.60G>C (p.Leu20=)
NM_017882.3(CLN6):c.613T>C (p.Leu205=)
NM_017882.3(CLN6):c.617T>C (p.Ile206Thr) rs2141137247
NM_017882.3(CLN6):c.61_62insCGG (p.Leu20_Gly21insAla) rs878855040
NM_017882.3(CLN6):c.623G>A (p.Gly208Glu) rs2141137239
NM_017882.3(CLN6):c.624G>A (p.Gly208=)
NM_017882.3(CLN6):c.625C>T (p.Pro209Ser) rs1064794559
NM_017882.3(CLN6):c.631C>T (p.Leu211=)
NM_017882.3(CLN6):c.633G>T (p.Leu211=)
NM_017882.3(CLN6):c.636C>T (p.Leu212=) rs758612277
NM_017882.3(CLN6):c.640G>A (p.Val214Met)
NM_017882.3(CLN6):c.642G>A (p.Val214=)
NM_017882.3(CLN6):c.649A>G (p.Ser217Gly) rs1567095087
NM_017882.3(CLN6):c.64G>A (p.Ala22Thr) rs527373013
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser) rs527373013
NM_017882.3(CLN6):c.653G>A (p.Gly218Asp) rs1160988895
NM_017882.3(CLN6):c.653G>T (p.Gly218Val) rs1160988895
NM_017882.3(CLN6):c.655C>T (p.Leu219=)
NM_017882.3(CLN6):c.655del (p.Leu219fs) rs2141137200
NM_017882.3(CLN6):c.657G>A (p.Leu219=) rs1363322956
NM_017882.3(CLN6):c.658_665del (p.Tyr220fs)
NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys) rs764571295
NM_017882.3(CLN6):c.665+10C>T rs1254894871
NM_017882.3(CLN6):c.665+11A>T
NM_017882.3(CLN6):c.665+12T>A
NM_017882.3(CLN6):c.665+14A>T
NM_017882.3(CLN6):c.665+18T>C
NM_017882.3(CLN6):c.665+18T>G
NM_017882.3(CLN6):c.665+19G>A
NM_017882.3(CLN6):c.665+1G>A rs796052356
NM_017882.3(CLN6):c.665+7G>A
NM_017882.3(CLN6):c.666-12T>C
NM_017882.3(CLN6):c.666-15C>T
NM_017882.3(CLN6):c.666-16C>T rs2141136181
NM_017882.3(CLN6):c.666-19_666-16del
NM_017882.3(CLN6):c.666-4C>T rs2141136177
NM_017882.3(CLN6):c.666-5T>C
NM_017882.3(CLN6):c.666-5T>G
NM_017882.3(CLN6):c.666-9C>T
NM_017882.3(CLN6):c.667T>C (p.Tyr223His) rs2093194324
NM_017882.3(CLN6):c.669C>T (p.Tyr223=)
NM_017882.3(CLN6):c.66C>T (p.Ala22=) rs796052349
NM_017882.3(CLN6):c.66del (p.Ser23fs) rs2093262507
NM_017882.3(CLN6):c.670C>T (p.Leu224=)
NM_017882.3(CLN6):c.672G>T (p.Leu224=)
NM_017882.3(CLN6):c.675C>A (p.Val225=)
NM_017882.3(CLN6):c.675C>T (p.Val225=)
NM_017882.3(CLN6):c.678C>G (p.Thr226=) rs374744816
NM_017882.3(CLN6):c.681G>A (p.Glu227=) rs1486759204
NM_017882.3(CLN6):c.683G>A (p.Gly228Asp)
NM_017882.3(CLN6):c.684C>A (p.Gly228=) rs1209133488
NM_017882.3(CLN6):c.685C>G (p.Gln229Glu)
NM_017882.3(CLN6):c.68C>A (p.Ser23Tyr)
NM_017882.3(CLN6):c.690C>A (p.Ile230=)
NM_017882.3(CLN6):c.696C>G (p.Ile232Met) rs2141136135
NM_017882.3(CLN6):c.69C>T (p.Ser23=)
NM_017882.3(CLN6):c.701T>C (p.Phe234Ser) rs2141136125
NM_017882.3(CLN6):c.706T>G (p.Phe236Val) rs796052358
NM_017882.3(CLN6):c.711C>T (p.Thr237=) rs2141136113
NM_017882.3(CLN6):c.712_713delinsAC (p.Phe238Thr) rs2141136108
NM_017882.3(CLN6):c.717C>T (p.Phe239=) rs745850620
NM_017882.3(CLN6):c.720C>T (p.Ala240=)
NM_017882.3(CLN6):c.721A>G (p.Met241Val) rs753994750
NM_017882.3(CLN6):c.722T>C (p.Met241Thr) rs1555438255
NM_017882.3(CLN6):c.723G>C (p.Met241Ile)
NM_017882.3(CLN6):c.724C>T (p.Leu242=) rs2093194081
NM_017882.3(CLN6):c.730C>G (p.Leu244Val) rs2093194059
NM_017882.3(CLN6):c.733G>A (p.Val245Ile) rs377192977
NM_017882.3(CLN6):c.735C>G (p.Val245=)
NM_017882.3(CLN6):c.739del (p.His247fs)
NM_017882.3(CLN6):c.73C>T (p.Leu25=)
NM_017882.3(CLN6):c.746A>C (p.Lys249Thr)
NM_017882.3(CLN6):c.747G>A (p.Lys249=) rs2093194013
NM_017882.3(CLN6):c.753G>A (p.Lys251=)
NM_017882.3(CLN6):c.756C>T (p.Arg252=)
NM_017882.3(CLN6):c.757C>T (p.Leu253Phe) rs1274562752
NM_017882.3(CLN6):c.759C>G (p.Leu253=) rs1567094628
NM_017882.3(CLN6):c.759C>T (p.Leu253=) rs1567094628
NM_017882.3(CLN6):c.75G>A (p.Leu25=)
NM_017882.3(CLN6):c.75G>T (p.Leu25=) rs2093262478
NM_017882.3(CLN6):c.765G>A (p.Leu255=)
NM_017882.3(CLN6):c.773A>G (p.Asn258Ser)
NM_017882.3(CLN6):c.774C>T (p.Asn258=) rs1555438231
NM_017882.3(CLN6):c.777C>T (p.Gly259=)
NM_017882.3(CLN6):c.783C>G (p.Phe261Leu)
NM_017882.3(CLN6):c.783C>T (p.Phe261=)
NM_017882.3(CLN6):c.786C>T (p.Leu262=)
NM_017882.3(CLN6):c.789C>T (p.Phe263=)
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_017882.3(CLN6):c.795C>T (p.Ser265=)
NM_017882.3(CLN6):c.802C>T (p.Leu268=)
NM_017882.3(CLN6):c.804G>A (p.Leu268=) rs2141135982
NM_017882.3(CLN6):c.804G>T (p.Leu268=) rs2141135982
NM_017882.3(CLN6):c.813G>A (p.Leu271=)
NM_017882.3(CLN6):c.814C>G (p.Leu272Val)
NM_017882.3(CLN6):c.81C>T (p.Ala27=)
NM_017882.3(CLN6):c.822G>C (p.Ala274=)
NM_017882.3(CLN6):c.822G>T (p.Ala274=)
NM_017882.3(CLN6):c.825C>G (p.Leu275=)
NM_017882.3(CLN6):c.827G>A (p.Trp276Ter)
NM_017882.3(CLN6):c.828G>T (p.Trp276Cys) rs2093193718
NM_017882.3(CLN6):c.82A>T (p.Arg28Trp) rs2093262448
NM_017882.3(CLN6):c.83+11G>A rs2093262385
NM_017882.3(CLN6):c.83+13C>G
NM_017882.3(CLN6):c.83+14G>A
NM_017882.3(CLN6):c.83+14dup rs756808642
NM_017882.3(CLN6):c.83+15G>A
NM_017882.3(CLN6):c.83+6C>T
NM_017882.3(CLN6):c.83+7G>A rs1595826955
NM_017882.3(CLN6):c.83+9G>A rs2141156141
NM_017882.3(CLN6):c.83+9G>C
NM_017882.3(CLN6):c.831C>A (p.Val277=)
NM_017882.3(CLN6):c.834C>T (p.Ala278=)
NM_017882.3(CLN6):c.838C>A (p.Leu280Met)
NM_017882.3(CLN6):c.84-12G>C
NM_017882.3(CLN6):c.84-16T>A
NM_017882.3(CLN6):c.84-17G>A
NM_017882.3(CLN6):c.84-17G>T
NM_017882.3(CLN6):c.84-17_84-15del
NM_017882.3(CLN6):c.84-18C>A
NM_017882.3(CLN6):c.84-3del rs2141145190
NM_017882.3(CLN6):c.84-4C>G
NM_017882.3(CLN6):c.84-4C>T
NM_017882.3(CLN6):c.840G>C (p.Leu280=)
NM_017882.3(CLN6):c.849C>A (p.Asp283Glu) rs1239948245
NM_017882.3(CLN6):c.852T>A (p.Pro284=)
NM_017882.3(CLN6):c.852T>C (p.Pro284=) rs2141135937
NM_017882.3(CLN6):c.858C>G (p.Leu286=)
NM_017882.3(CLN6):c.858C>T (p.Leu286=) rs1043430340
NM_017882.3(CLN6):c.859A>T (p.Arg287Trp) rs2141135931
NM_017882.3(CLN6):c.864G>T (p.Lys288Asn)
NM_017882.3(CLN6):c.872dup (p.Val293fs)
NM_017882.3(CLN6):c.873G>A (p.Pro291=) rs567275786
NM_017882.3(CLN6):c.875G>C (p.Gly292Ala)
NM_017882.3(CLN6):c.876T>C (p.Gly292=) rs916275768
NM_017882.3(CLN6):c.879C>T (p.Val293=)
NM_017882.3(CLN6):c.888C>T (p.Val296=)
NM_017882.3(CLN6):c.890del (p.Pro297fs) rs154774639
NM_017882.3(CLN6):c.90C>G (p.Gly30=)
NM_017882.3(CLN6):c.912C>G (p.Thr304=)
NM_017882.3(CLN6):c.915del (p.His306fs)
NM_017882.3(CLN6):c.919G>A (p.Val307Ile) rs146801142
NM_017882.3(CLN6):c.919G>T (p.Val307Phe) rs146801142
NM_017882.3(CLN6):c.921_922delinsTC (p.Ser308Arg) rs2141135839
NM_017882.3(CLN6):c.925A>C (p.Ser309Arg) rs762916725
NM_017882.3(CLN6):c.925A>G (p.Ser309Gly) rs762916725
NM_017882.3(CLN6):c.928C>T (p.Arg310Trp)
NM_017882.3(CLN6):c.92C>G (p.Ser31Cys) rs2141145171
NM_017882.3(CLN6):c.95T>G (p.Val32Gly)
NM_017882.3(CLN6):c.9G>A (p.Ala3=)
NM_017882.3(CLN6):c.9G>C (p.Ala3=)
NM_018941.4(CLN8):c.102C>T (p.Phe34=) rs2130990585
NM_018941.4(CLN8):c.105C>G (p.Tyr35Ter) rs2130990601
NM_018941.4(CLN8):c.109_112dup (p.Val38fs)
NM_018941.4(CLN8):c.111C>A (p.Gly37=) rs753430388
NM_018941.4(CLN8):c.112G>T (p.Val38Phe) rs370199508
NM_018941.4(CLN8):c.114C>A (p.Val38=) rs1585137545
NM_018941.4(CLN8):c.114C>G (p.Val38=) rs1585137545
NM_018941.4(CLN8):c.123C>G (p.Val41=)
NM_018941.4(CLN8):c.123C>T (p.Val41=) rs1801286645
NM_018941.4(CLN8):c.126C>A (p.Cys42Ter) rs192196274
NM_018941.4(CLN8):c.127C>T (p.His43Tyr) rs541840243
NM_018941.4(CLN8):c.12G>A (p.Ala4=) rs368792081
NM_018941.4(CLN8):c.12G>C (p.Ala4=)
NM_018941.4(CLN8):c.12G>T (p.Ala4=) rs368792081
NM_018941.4(CLN8):c.130C>T (p.Gln44Ter) rs2130990747
NM_018941.4(CLN8):c.135G>A (p.Leu45=) rs766132197
NM_018941.4(CLN8):c.135G>C (p.Leu45=)
NM_018941.4(CLN8):c.144C>A (p.Ser48=) rs2130990822
NM_018941.4(CLN8):c.145C>T (p.Leu49=)
NM_018941.4(CLN8):c.153C>G (p.Ala51=)
NM_018941.4(CLN8):c.159C>A (p.Tyr53Ter)
NM_018941.4(CLN8):c.159C>T (p.Tyr53=) rs780551031
NM_018941.4(CLN8):c.15C>G (p.Ser5Arg) rs374597781
NM_018941.4(CLN8):c.160C>A (p.Arg54Ser)
NM_018941.4(CLN8):c.160del (p.Arg54fs)
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.174C>T (p.Ala58=)
NM_018941.4(CLN8):c.180G>A (p.Glu60=) rs2130990994
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.1A>T (p.Met1Leu)
NM_018941.4(CLN8):c.201G>A (p.Ala67=) rs575820157
NM_018941.4(CLN8):c.204C>T (p.Ala68=)
NM_018941.4(CLN8):c.209G>C (p.Arg70Pro) rs386834124
NM_018941.4(CLN8):c.20G>C (p.Gly7Ala)
NM_018941.4(CLN8):c.210T>C (p.Arg70=) rs2130991152
NM_018941.4(CLN8):c.213A>C (p.Ala71=)
NM_018941.4(CLN8):c.213A>G (p.Ala71=) rs763671368
NM_018941.4(CLN8):c.216C>G (p.Val72=)
NM_018941.4(CLN8):c.21G>A (p.Gly7=) rs751762914
NM_018941.4(CLN8):c.226C>T (p.Gln76Ter) rs1554449047
NM_018941.4(CLN8):c.227A>C (p.Gln76Pro)
NM_018941.4(CLN8):c.228G>A (p.Gln76=) rs1585137825
NM_018941.4(CLN8):c.229A>G (p.Ser77Gly)
NM_018941.4(CLN8):c.231C>T (p.Ser77=) rs1408818831
NM_018941.4(CLN8):c.234A>G (p.Thr78=) rs1450867136
NM_018941.4(CLN8):c.236C>T (p.Ala79Val)
NM_018941.4(CLN8):c.237C>T (p.Ala79=) rs1362205695
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.244C>T (p.Leu82=)
NM_018941.4(CLN8):c.246G>C (p.Leu82=) rs144015378
NM_018941.4(CLN8):c.246G>T (p.Leu82=)
NM_018941.4(CLN8):c.258G>A (p.Leu86=)
NM_018941.4(CLN8):c.261G>A (p.Gly87=)
NM_018941.4(CLN8):c.263del (p.Asp88fs) rs1057516582
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.273G>A (p.Leu91=) rs878855052
NM_018941.4(CLN8):c.273G>T (p.Leu91=) rs878855052
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.27A>G (p.Thr9=) rs750274455
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.290G>T (p.Arg97Leu) rs116605307
NM_018941.4(CLN8):c.291T>C (p.Arg97=)
NM_018941.4(CLN8):c.297G>A (p.Gln99=) rs1057521001
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.303C>T (p.Asn101=) rs755831055
NM_018941.4(CLN8):c.306G>C (p.Trp102Cys) rs1554449124
NM_018941.4(CLN8):c.311G>A (p.Trp104Ter) rs1801297484
NM_018941.4(CLN8):c.312G>A (p.Trp104Ter) rs1554449136
NM_018941.4(CLN8):c.312G>T (p.Trp104Cys) rs1554449136
NM_018941.4(CLN8):c.315del (p.His106fs)
NM_018941.4(CLN8):c.321C>T (p.Ile107=) rs2130991748
NM_018941.4(CLN8):c.322A>G (p.Thr108Ala)
NM_018941.4(CLN8):c.324G>T (p.Thr108=)
NM_018941.4(CLN8):c.327A>G (p.Thr109=)
NM_018941.4(CLN8):c.330A>G (p.Ala110=) rs2130991797
NM_018941.4(CLN8):c.331A>G (p.Thr111Ala) rs1563107925
NM_018941.4(CLN8):c.336A>T (p.Gly112=) rs1585138188
NM_018941.4(CLN8):c.33G>A (p.Glu11=) rs2130990075
NM_018941.4(CLN8):c.344G>C (p.Cys115Ser)
NM_018941.4(CLN8):c.345C>T (p.Cys115=)
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.360A>G (p.Ala120=) rs2130991953
NM_018941.4(CLN8):c.361G>A (p.Val121Ile) rs1223417396
NM_018941.4(CLN8):c.363C>A (p.Val121=) rs568852954
NM_018941.4(CLN8):c.366C>T (p.His122=)
NM_018941.4(CLN8):c.367C>T (p.Leu123=) rs2130992011
NM_018941.4(CLN8):c.369G>A (p.Leu123=)
NM_018941.4(CLN8):c.371C>A (p.Ser124Tyr) rs1198837795
NM_018941.4(CLN8):c.372C>T (p.Ser124=) rs2130992027
NM_018941.4(CLN8):c.374A>T (p.Asn125Ile) rs142269885
NM_018941.4(CLN8):c.375C>T (p.Asn125=)
NM_018941.4(CLN8):c.376T>C (p.Leu126=)
NM_018941.4(CLN8):c.377T>A (p.Leu126Ter)
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.384C>T (p.Phe128=)
NM_018941.4(CLN8):c.385C>G (p.Arg129Gly)
NM_018941.4(CLN8):c.387G>C (p.Arg129=) rs2130992139
NM_018941.4(CLN8):c.389C>T (p.Thr130Ile) rs1165037847
NM_018941.4(CLN8):c.390A>C (p.Thr130=) rs181971599
NM_018941.4(CLN8):c.390A>G (p.Thr130=) rs181971599
NM_018941.4(CLN8):c.392T>G (p.Phe131Cys) rs1404214432
NM_018941.4(CLN8):c.398T>A (p.Leu133Ter) rs554042394
NM_018941.4(CLN8):c.399G>A (p.Leu133=) rs948684101
NM_018941.4(CLN8):c.399G>T (p.Leu133Phe) rs948684101
NM_018941.4(CLN8):c.39T>A (p.Ile13=)
NM_018941.4(CLN8):c.39T>G (p.Ile13Met) rs1801279215
NM_018941.4(CLN8):c.405G>A (p.Leu135=)
NM_018941.4(CLN8):c.408T>C (p.Val136=) rs535963507
NM_018941.4(CLN8):c.411C>T (p.Ile137=) rs147224140
NM_018941.4(CLN8):c.415C>T (p.His139Tyr) rs386834127
NM_018941.4(CLN8):c.420C>G (p.Leu140=) rs2130992308
NM_018941.4(CLN8):c.426C>T (p.Ala142=) rs1354416712
NM_018941.4(CLN8):c.427T>G (p.Phe143Val) rs2130992340
NM_018941.4(CLN8):c.429T>C (p.Phe143=)
NM_018941.4(CLN8):c.429_432del (p.Phe143fs) rs759598033
NM_018941.4(CLN8):c.446G>A (p.Cys149Tyr)
NM_018941.4(CLN8):c.452T>C (p.Val151Ala) rs752026391
NM_018941.4(CLN8):c.453C>G (p.Val151=) rs1801304769
NM_018941.4(CLN8):c.453C>T (p.Val151=)
NM_018941.4(CLN8):c.457C>G (p.Leu153Val)
NM_018941.4(CLN8):c.459C>A (p.Leu153=) rs1031756072
NM_018941.4(CLN8):c.459C>G (p.Leu153=) rs1031756072
NM_018941.4(CLN8):c.459C>T (p.Leu153=)
NM_018941.4(CLN8):c.462A>G (p.Gln154=) rs1366343262
NM_018941.4(CLN8):c.468C>G (p.Gly156=) rs2130992519
NM_018941.4(CLN8):c.46C>A (p.Leu16Met) rs386834129
NM_018941.4(CLN8):c.471C>G (p.His157Gln) rs1585138507
NM_018941.4(CLN8):c.474T>C (p.Tyr158=) rs2130992557
NM_018941.4(CLN8):c.474_477dup (p.Ala160fs)
NM_018941.4(CLN8):c.475C>T (p.Leu159=) rs2130992571
NM_018941.4(CLN8):c.477A>G (p.Leu159=)
NM_018941.4(CLN8):c.485C>G (p.Thr162Ser) rs1554449289
NM_018941.4(CLN8):c.486C>T (p.Thr162=) rs768531216
NM_018941.4(CLN8):c.489G>A (p.Thr163=) rs1585138564
NM_018941.4(CLN8):c.489G>T (p.Thr163=) rs1585138564
NM_018941.4(CLN8):c.48G>C (p.Leu16=) rs2130990190
NM_018941.4(CLN8):c.490T>C (p.Leu164=) rs2130992657
NM_018941.4(CLN8):c.495C>T (p.Leu165=) rs772106347
NM_018941.4(CLN8):c.496C>T (p.Leu166=)
NM_018941.4(CLN8):c.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.510G>C (p.Thr170=)
NM_018941.4(CLN8):c.510G>T (p.Thr170=) rs759153401
NM_018941.4(CLN8):c.512C>G (p.Pro171Arg) rs1184115888
NM_018941.4(CLN8):c.513C>A (p.Pro171=)
NM_018941.4(CLN8):c.518C>T (p.Thr173Ile)
NM_018941.4(CLN8):c.523G>C (p.Val175Leu) rs768139689
NM_018941.4(CLN8):c.530G>A (p.Trp177Ter)
NM_018941.4(CLN8):c.537C>T (p.Leu179=) rs2130992882
NM_018941.4(CLN8):c.539T>A (p.Leu180Ter) rs1801309834
NM_018941.4(CLN8):c.53A>G (p.Tyr18Cys) rs142104002
NM_018941.4(CLN8):c.543+12C>G
NM_018941.4(CLN8):c.543+12_543+20dup
NM_018941.4(CLN8):c.543+13A>C
NM_018941.4(CLN8):c.543+14T>G
NM_018941.4(CLN8):c.543+19A>C
NM_018941.4(CLN8):c.543+1G>A rs756267448
NM_018941.4(CLN8):c.543+5G>C
NM_018941.4(CLN8):c.543+7G>A rs779967066
NM_018941.4(CLN8):c.543+9A>C rs982453047
NM_018941.4(CLN8):c.544-15C>T
NM_018941.4(CLN8):c.544-19T>G
NM_018941.4(CLN8):c.544-2A>C
NM_018941.4(CLN8):c.544-5T>C
NM_018941.4(CLN8):c.544-6A>C rs200435861
NM_018941.4(CLN8):c.544-6A>T
NM_018941.4(CLN8):c.544-8C>A
NM_018941.4(CLN8):c.544G>A (p.Ala182Thr)
NM_018941.4(CLN8):c.546G>T (p.Ala182=) rs144047076
NM_018941.4(CLN8):c.548del (p.Gly183fs)
NM_018941.4(CLN8):c.550T>G (p.Trp184Gly) rs1801670539
NM_018941.4(CLN8):c.555C>G (p.Ser185=)
NM_018941.4(CLN8):c.555del (p.Glu186fs)
NM_018941.4(CLN8):c.560C>G (p.Ser187Cys) rs775174607
NM_018941.4(CLN8):c.561T>A (p.Ser187=)
NM_018941.4(CLN8):c.561T>C (p.Ser187=)
NM_018941.4(CLN8):c.562_563del (p.Leu188fs) rs386834132
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>A (p.Lys191=) rs1801671744
NM_018941.4(CLN8):c.573G>C (p.Lys191Asn)
NM_018941.4(CLN8):c.576C>G (p.Leu192=)
NM_018941.4(CLN8):c.576C>T (p.Leu192=)
NM_018941.4(CLN8):c.578A>G (p.Asn193Ser)
NM_018941.4(CLN8):c.579C>A (p.Asn193Lys)
NM_018941.4(CLN8):c.57A>G (p.Ala19=) rs1256814205
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.588G>A (p.Leu196=) rs2129015199
NM_018941.4(CLN8):c.588G>C (p.Leu196=) rs2129015199
NM_018941.4(CLN8):c.593_596dup (p.Met200fs) rs1801672516
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.606C>G (p.His202Gln)
NM_018941.4(CLN8):c.610C>G (p.Arg204Gly)
NM_018941.4(CLN8):c.611G>T (p.Arg204Leu) rs386834134
NM_018941.4(CLN8):c.612C>T (p.Arg204=)
NM_018941.4(CLN8):c.613A>G (p.Met205Val)
NM_018941.4(CLN8):c.616G>T (p.Val206Phe) rs751249766
NM_018941.4(CLN8):c.618T>G (p.Val206=)
NM_018941.4(CLN8):c.624C>A (p.Thr208=) rs1257327513
NM_018941.4(CLN8):c.627C>G (p.Tyr209Ter)
NM_018941.4(CLN8):c.630C>G (p.His210Gln)
NM_018941.4(CLN8):c.630C>T (p.His210=) rs1554451522
NM_018941.4(CLN8):c.631A>T (p.Met211Leu)
NM_018941.4(CLN8):c.632T>C (p.Met211Thr)
NM_018941.4(CLN8):c.635G>A (p.Trp212Ter) rs2129015230
NM_018941.4(CLN8):c.636G>C (p.Trp212Cys)
NM_018941.4(CLN8):c.639G>C (p.Trp213Cys)
NM_018941.4(CLN8):c.639G>T (p.Trp213Cys) rs113304303
NM_018941.4(CLN8):c.648C>T (p.Phe216=) rs564074916
NM_018941.4(CLN8):c.650G>C (p.Trp217Ser)
NM_018941.4(CLN8):c.663C>A (p.Gly221=)
NM_018941.4(CLN8):c.667G>C (p.Val223Leu) rs1801676517
NM_018941.4(CLN8):c.669C>G (p.Val223=) rs2129015252
NM_018941.4(CLN8):c.675C>T (p.Ser225=)
NM_018941.4(CLN8):c.678G>A (p.Leu226=)
NM_018941.4(CLN8):c.678G>C (p.Leu226=) rs1462963398
NM_018941.4(CLN8):c.678_687del (p.Tyr227fs)
NM_018941.4(CLN8):c.682C>G (p.Leu228Val) rs1585151658
NM_018941.4(CLN8):c.682C>T (p.Leu228=) rs1585151658
NM_018941.4(CLN8):c.684G>C (p.Leu228=)
NM_018941.4(CLN8):c.686C>T (p.Pro229Leu)
NM_018941.4(CLN8):c.68_76del (p.Ile23_Ser25del)
NM_018941.4(CLN8):c.690T>G (p.His230Gln)
NM_018941.4(CLN8):c.693G>A (p.Leu231=) rs1470702469
NM_018941.4(CLN8):c.694A>C (p.Thr232Pro)
NM_018941.4(CLN8):c.696A>G (p.Thr232=) rs1337045486
NM_018941.4(CLN8):c.697C>T (p.Leu233=)
NM_018941.4(CLN8):c.699G>C (p.Leu233=)
NM_018941.4(CLN8):c.702C>T (p.Phe234=) rs1264323379
NM_018941.4(CLN8):c.703C>T (p.Leu235Phe)
NM_018941.4(CLN8):c.703del (p.Val236fs) rs761621368
NM_018941.4(CLN8):c.705T>G (p.Leu235=)
NM_018941.4(CLN8):c.706G>A (p.Val236Ile) rs371830719
NM_018941.4(CLN8):c.706G>C (p.Val236Leu)
NM_018941.4(CLN8):c.709G>C (p.Gly237Arg)
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly) rs104894064
NM_018941.4(CLN8):c.70C>T (p.Arg24Cys) rs104894064
NM_018941.4(CLN8):c.714G>A (p.Leu238=)
NM_018941.4(CLN8):c.71G>A (p.Arg24His)
NM_018941.4(CLN8):c.71G>T (p.Arg24Leu)
NM_018941.4(CLN8):c.721C>G (p.Leu241Val) rs1554451594
NM_018941.4(CLN8):c.726G>C (p.Thr242=) rs200529220
NM_018941.4(CLN8):c.72C>T (p.Arg24=) rs767698401
NM_018941.4(CLN8):c.731T>C (p.Ile244Thr)
NM_018941.4(CLN8):c.732C>G (p.Ile244Met) rs747778614
NM_018941.4(CLN8):c.738T>C (p.Asn246=) rs2129015283
NM_018941.4(CLN8):c.743A>G (p.Tyr248Cys)
NM_018941.4(CLN8):c.744T>C (p.Tyr248=) rs2129015286
NM_018941.4(CLN8):c.745T>C (p.Trp249Arg)
NM_018941.4(CLN8):c.750C>T (p.Thr250=)
NM_018941.4(CLN8):c.759G>A (p.Lys253=) rs1463644943
NM_018941.4(CLN8):c.763C>G (p.Gln255Glu) rs746397087
NM_018941.4(CLN8):c.763C>T (p.Gln255Ter) rs746397087
NM_018941.4(CLN8):c.766C>T (p.Gln256Ter)
NM_018941.4(CLN8):c.76A>T (p.Thr26Ser)
NM_018941.4(CLN8):c.774C>T (p.Leu258=) rs1801681630
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.780G>C (p.Pro260=) rs761984333
NM_018941.4(CLN8):c.781G>A (p.Val261Met) rs1482950665
NM_018941.4(CLN8):c.782T>C (p.Val261Ala)
NM_018941.4(CLN8):c.788G>A (p.Trp263Ter) rs878855053
NM_018941.4(CLN8):c.789G>C (p.Trp263Cys) rs28940569
NM_018941.4(CLN8):c.792C>T (p.Asn264=) rs587779411
NM_018941.4(CLN8):c.796G>T (p.Ala266Ser)
NM_018941.4(CLN8):c.797C>T (p.Ala266Val)
NM_018941.4(CLN8):c.798A>C (p.Ala266=) rs754493769
NM_018941.4(CLN8):c.798A>G (p.Ala266=)
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.804A>G (p.Pro268=) rs746305311
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.810C>G (p.Ala270=)
NM_018941.4(CLN8):c.813G>A (p.Lys271=) rs947633775
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.834G>A (p.Gly278=)
NM_018941.4(CLN8):c.835C>T (p.Gln279Ter)
NM_018941.4(CLN8):c.838C>T (p.Leu280=) rs886043061
NM_018941.4(CLN8):c.841C>T (p.Leu281=)
NM_018941.4(CLN8):c.844C>A (p.Arg282=) rs587780898
NM_018941.4(CLN8):c.845G>C (p.Arg282Pro) rs766172825
NM_018941.4(CLN8):c.851A>C (p.Lys284Thr) rs2129015342
NM_018941.4(CLN8):c.855G>A (p.Arg285=)
NM_018941.4(CLN8):c.859dup (p.Ter287LeuextTer?) rs2129015346
NM_018941.4(CLN8):c.85G>T (p.Val29Phe)
NM_018941.4(CLN8):c.861G>A (p.Ter287=)
NM_018941.4(CLN8):c.90T>G (p.Ala30=)
NM_018941.4(CLN8):c.93C>T (p.Gly31=)
NM_018941.4(CLN8):c.94T>G (p.Phe32Val) rs758068226
NM_018941.4(CLN8):c.97G>C (p.Val33Leu) rs1801284979
NM_022089.4(ATP13A2):c.10+13T>C
NM_022089.4(ATP13A2):c.10+14C>T
NM_022089.4(ATP13A2):c.102C>T (p.Ser34=)
NM_022089.4(ATP13A2):c.1033_1034del (p.Leu345fs)
NM_022089.4(ATP13A2):c.1039+11A>G rs2100994243
NM_022089.4(ATP13A2):c.1039+15C>G
NM_022089.4(ATP13A2):c.103G>A (p.Val35Met)
NM_022089.4(ATP13A2):c.1040-12G>A
NM_022089.4(ATP13A2):c.1040-13C>T
NM_022089.4(ATP13A2):c.1040-18C>T
NM_022089.4(ATP13A2):c.1041A>T (p.Gly347=)
NM_022089.4(ATP13A2):c.106-13G>A
NM_022089.4(ATP13A2):c.106-20C>T
NM_022089.4(ATP13A2):c.1075G>A (p.Glu359Lys)
NM_022089.4(ATP13A2):c.1093T>C (p.Cys365Arg)
NM_022089.4(ATP13A2):c.1095T>C (p.Cys365=) rs2100916560
NM_022089.4(ATP13A2):c.1105C>G (p.His369Asp) rs2077158233
NM_022089.4(ATP13A2):c.1110G>T (p.Arg370=)
NM_022089.4(ATP13A2):c.1111C>T (p.Arg371Trp) rs746292302
NM_022089.4(ATP13A2):c.1113del (p.His372fs) rs1377055875
NM_022089.4(ATP13A2):c.1120C>A (p.Leu374Ile)
NM_022089.4(ATP13A2):c.1125C>T (p.Phe375=)
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.1137C>G (p.Leu379=) rs1026641789
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.1188C>T (p.Thr396=)
NM_022089.4(ATP13A2):c.1190G>A (p.Arg397His)
NM_022089.4(ATP13A2):c.1195+12G>C
NM_022089.4(ATP13A2):c.1195+19G>A
NM_022089.4(ATP13A2):c.1195+5G>A
NM_022089.4(ATP13A2):c.1195+7G>A rs1407939803
NM_022089.4(ATP13A2):c.1196-17C>T
NM_022089.4(ATP13A2):c.1196G>A (p.Gly399Glu) rs2100897670
NM_022089.4(ATP13A2):c.1208C>A (p.Ala403Glu) rs373349384
NM_022089.4(ATP13A2):c.1215G>T (p.Gly405=) rs763507619
NM_022089.4(ATP13A2):c.1218C>T (p.Gly406=) rs796629683
NM_022089.4(ATP13A2):c.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.1281G>A (p.Lys427=)
NM_022089.4(ATP13A2):c.1296dup (p.Ser433fs)
NM_022089.4(ATP13A2):c.1306+5G>A rs786205056
NM_022089.4(ATP13A2):c.1306G>A (p.Ala436Thr) rs1439546959
NM_022089.4(ATP13A2):c.1307-11T>C
NM_022089.4(ATP13A2):c.1307-20G>T rs1161484444
NM_022089.4(ATP13A2):c.1314C>T (p.Leu438=) rs764435162
NM_022089.4(ATP13A2):c.1317C>T (p.Gly439=) rs775625778
NM_022089.4(ATP13A2):c.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.1353+16G>C
NM_022089.4(ATP13A2):c.1353+17G>T
NM_022089.4(ATP13A2):c.1353G>A (p.Arg451=)
NM_022089.4(ATP13A2):c.1353_1353+1del
NM_022089.4(ATP13A2):c.1354-11C>T
NM_022089.4(ATP13A2):c.1354-12G>A
NM_022089.4(ATP13A2):c.1354-17A>C
NM_022089.4(ATP13A2):c.1360C>G (p.Leu454Val) rs2100884368
NM_022089.4(ATP13A2):c.1378del (p.Arg460fs)
NM_022089.4(ATP13A2):c.1380G>C (p.Arg460=)
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.1443G>A (p.Thr481=)
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.1491C>T (p.His497=)
NM_022089.4(ATP13A2):c.1498C>T (p.Arg500Cys)
NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg) rs121918227
NM_022089.4(ATP13A2):c.1518G>A (p.Lys506=)
NM_022089.4(ATP13A2):c.1542+11A>G rs1286184234
NM_022089.4(ATP13A2):c.1542+13G>A rs2100878532
NM_022089.4(ATP13A2):c.1542+13dup rs1367928615
NM_022089.4(ATP13A2):c.1543-11G>A
NM_022089.4(ATP13A2):c.1543-14C>T
NM_022089.4(ATP13A2):c.1543-18C>T
NM_022089.4(ATP13A2):c.1543-7C>T
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.1609C>T (p.Leu537=)
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.1662A>G (p.Ala554=)
NM_022089.4(ATP13A2):c.1662A>T (p.Ala554=) rs1269279941
NM_022089.4(ATP13A2):c.1665G>A (p.Leu555=) rs2100816612
NM_022089.4(ATP13A2):c.1685G>A (p.Ser562Asn) rs2100815818
NM_022089.4(ATP13A2):c.1696G>A (p.Asp566Asn) rs2100815502
NM_022089.4(ATP13A2):c.1701C>T (p.Thr567=)
NM_022089.4(ATP13A2):c.1705G>A (p.Val569Met)
NM_022089.4(ATP13A2):c.1720G>A (p.Asp574Asn)
NM_022089.4(ATP13A2):c.1749+12A>G
NM_022089.4(ATP13A2):c.1749+15C>G
NM_022089.4(ATP13A2):c.1749+5G>C
NM_022089.4(ATP13A2):c.1749+8G>T
NM_022089.4(ATP13A2):c.1750-11C>A
NM_022089.4(ATP13A2):c.1750-14T>C
NM_022089.4(ATP13A2):c.1750-20C>A
NM_022089.4(ATP13A2):c.1750-20C>G rs1305686148
NM_022089.4(ATP13A2):c.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.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.1825G>T (p.Glu609Ter)
NM_022089.4(ATP13A2):c.1843A>G (p.Met615Val) rs200529993
NM_022089.4(ATP13A2):c.1845+14G>A
NM_022089.4(ATP13A2):c.1845+15del
NM_022089.4(ATP13A2):c.1845+17C>T rs912845832
NM_022089.4(ATP13A2):c.1846-2A>G rs2100783138
NM_022089.4(ATP13A2):c.1853C>A (p.Pro618His)
NM_022089.4(ATP13A2):c.1859T>C (p.Val620Ala) rs2100782693
NM_022089.4(ATP13A2):c.1887C>T (p.Pro629=)
NM_022089.4(ATP13A2):c.1893T>G (p.Ser631=)
NM_022089.4(ATP13A2):c.190C>T (p.Leu64Phe)
NM_022089.4(ATP13A2):c.1931C>G (p.Pro644Arg) rs2100780847
NM_022089.4(ATP13A2):c.1932del (p.Ala646fs)
NM_022089.4(ATP13A2):c.1947C>G (p.Pro649=) rs369722835
NM_022089.4(ATP13A2):c.1947C>T (p.Pro649=)
NM_022089.4(ATP13A2):c.1956C>T (p.Tyr652=)
NM_022089.4(ATP13A2):c.196C>G (p.Arg66Gly)
NM_022089.4(ATP13A2):c.1971G>A (p.Pro657=)
NM_022089.4(ATP13A2):c.1989C>G (p.Leu663=)
NM_022089.4(ATP13A2):c.2005+10_2005+13dup
NM_022089.4(ATP13A2):c.2005+11A>G
NM_022089.4(ATP13A2):c.2005+13G>A
NM_022089.4(ATP13A2):c.2006-1G>C
NM_022089.4(ATP13A2):c.2006-20C>T
NM_022089.4(ATP13A2):c.2006-7dup
NM_022089.4(ATP13A2):c.2006-9C>A
NM_022089.4(ATP13A2):c.2019C>T (p.Phe673=)
NM_022089.4(ATP13A2):c.2028G>T (p.Met676Ile)
NM_022089.4(ATP13A2):c.2045C>T (p.Ala682Val)
NM_022089.4(ATP13A2):c.2082A>G (p.Pro694=) rs1303061130
NM_022089.4(ATP13A2):c.2094G>A (p.Val698=)
NM_022089.4(ATP13A2):c.20C>T (p.Pro7Leu) rs2077535736
NM_022089.4(ATP13A2):c.2113C>T (p.Gln705Ter)
NM_022089.4(ATP13A2):c.2123C>T (p.Thr708Met)
NM_022089.4(ATP13A2):c.2126+11C>A
NM_022089.4(ATP13A2):c.2126+13C>T
NM_022089.4(ATP13A2):c.2126+20C>T rs2100772296
NM_022089.4(ATP13A2):c.2127-13G>A
NM_022089.4(ATP13A2):c.2127-2_2127-1delinsCC
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.2136G>A (p.Val712=) rs1232417254
NM_022089.4(ATP13A2):c.213G>A (p.Trp71Ter)
NM_022089.4(ATP13A2):c.2146del (p.Asp715_Leu716insTer) rs2100768788
NM_022089.4(ATP13A2):c.2147T>G (p.Leu716Arg)
NM_022089.4(ATP13A2):c.2151C>T (p.Ser717=) rs544545629
NM_022089.4(ATP13A2):c.2178C>G (p.Asn726Lys)
NM_022089.4(ATP13A2):c.217del (p.Val73fs)
NM_022089.4(ATP13A2):c.217dup (p.Val73fs)
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.2190G>A (p.Pro730=)
NM_022089.4(ATP13A2):c.2202A>G (p.Pro734=)
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.2235C>T (p.Arg745=)
NM_022089.4(ATP13A2):c.2238C>T (p.Ala746=)
NM_022089.4(ATP13A2):c.2239G>A (p.Val747Ile)
NM_022089.4(ATP13A2):c.2251+19G>A
NM_022089.4(ATP13A2):c.2251+20C>T
NM_022089.4(ATP13A2):c.2251+5A>G
NM_022089.4(ATP13A2):c.2252-12C>G
NM_022089.4(ATP13A2):c.2252-12C>T
NM_022089.4(ATP13A2):c.2252-18T>C rs2076885723
NM_022089.4(ATP13A2):c.2262G>A (p.Leu754=)
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.2310G>A (p.Gln770=)
NM_022089.4(ATP13A2):c.2325C>T (p.Ile775=)
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.2379G>A (p.Pro793=)
NM_022089.4(ATP13A2):c.2395G>A (p.Ala799Thr)
NM_022089.4(ATP13A2):c.2400G>C (p.Val800=)
NM_022089.4(ATP13A2):c.2412+12C>G
NM_022089.4(ATP13A2):c.2413-1G>C
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.2454C>T (p.Pro818=) rs2100725900
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.2481G>T (p.Gly827=) rs761620417
NM_022089.4(ATP13A2):c.2483C>T (p.Pro828Leu) rs1235764815
NM_022089.4(ATP13A2):c.2488T>G (p.Phe830Val)
NM_022089.4(ATP13A2):c.24C>A (p.Leu8=) rs1460426486
NM_022089.4(ATP13A2):c.2527A>C (p.Lys843Gln) rs2100724045
NM_022089.4(ATP13A2):c.2529+10C>T
NM_022089.4(ATP13A2):c.2529+11C>T
NM_022089.4(ATP13A2):c.2529+7C>T rs2100723755
NM_022089.4(ATP13A2):c.2530-14C>A rs759142662
NM_022089.4(ATP13A2):c.2538C>G (p.Val846=) rs1365858933
NM_022089.4(ATP13A2):c.2544C>T (p.Gly848=) rs769033175
NM_022089.4(ATP13A2):c.2548G>C (p.Val850Leu)
NM_022089.4(ATP13A2):c.2556C>T (p.Ala852=) rs55889979
NM_022089.4(ATP13A2):c.2557C>G (p.Arg853Gly) rs772243999
NM_022089.4(ATP13A2):c.256G>A (p.Glu86Lys)
NM_022089.4(ATP13A2):c.2580A>G (p.Thr860=) rs1295653375
NM_022089.4(ATP13A2):c.2587del (p.Val863fs)
NM_022089.4(ATP13A2):c.258A>C (p.Glu86Asp)
NM_022089.4(ATP13A2):c.2593G>C (p.Glu865Gln)
NM_022089.4(ATP13A2):c.2609+19G>T
NM_022089.4(ATP13A2):c.2610-8C>T
NM_022089.4(ATP13A2):c.2652G>A (p.Gly884=)
NM_022089.4(ATP13A2):c.2664G>T (p.Ala888=)
NM_022089.4(ATP13A2):c.2675G>A (p.Gly892Asp)
NM_022089.4(ATP13A2):c.2682G>A (p.Ser894=) rs767921922
NM_022089.4(ATP13A2):c.270C>T (p.Ile90=) rs1348572920
NM_022089.4(ATP13A2):c.271G>A (p.Glu91Lys)
NM_022089.4(ATP13A2):c.2742G>A (p.Glu914=) rs146234171
NM_022089.4(ATP13A2):c.2762+18C>T
NM_022089.4(ATP13A2):c.2762+19G>C rs779656439
NM_022089.4(ATP13A2):c.2762+9G>A rs1570769698
NM_022089.4(ATP13A2):c.2763-4_2763-1del
NM_022089.4(ATP13A2):c.2763-8C>A
NM_022089.4(ATP13A2):c.2766G>T (p.Glu922Asp)
NM_022089.4(ATP13A2):c.2799C>T (p.Val933=)
NM_022089.4(ATP13A2):c.2829C>G (p.Thr943=)
NM_022089.4(ATP13A2):c.2835C>A (p.Phe945Leu)
NM_022089.4(ATP13A2):c.2841C>T (p.Ser947=)
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.2860-7G>A rs2076770965
NM_022089.4(ATP13A2):c.2862C>A (p.Ile954=)
NM_022089.4(ATP13A2):c.2864A>G (p.Asn955Ser)
NM_022089.4(ATP13A2):c.2867C>G (p.Thr956Ser)
NM_022089.4(ATP13A2):c.2871C>T (p.Asn957=)
NM_022089.4(ATP13A2):c.288+12G>T rs749064381
NM_022089.4(ATP13A2):c.288+13C>G rs1300682662
NM_022089.4(ATP13A2):c.288+17G>T
NM_022089.4(ATP13A2):c.2888T>C (p.Phe963Ser) rs2100659067
NM_022089.4(ATP13A2):c.289-12T>C
NM_022089.4(ATP13A2):c.289-13C>T
NM_022089.4(ATP13A2):c.2898C>T (p.Ile966=)
NM_022089.4(ATP13A2):c.2899G>C (p.Asp967His) rs772870846
NM_022089.4(ATP13A2):c.2905G>C (p.Val969Leu) rs769445714
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.2958C>G (p.Val986=)
NM_022089.4(ATP13A2):c.2965C>T (p.Arg989Trp)
NM_022089.4(ATP13A2):c.2967G>A (p.Arg989=)
NM_022089.4(ATP13A2):c.2970_2971delinsAT (p.Arg991Trp) rs2100656614
NM_022089.4(ATP13A2):c.2976A>C (p.Pro992=)
NM_022089.4(ATP13A2):c.2978C>G (p.Pro993Arg) rs146559160
NM_022089.4(ATP13A2):c.2979G>A (p.Pro993=)
NM_022089.4(ATP13A2):c.2984C>T (p.Ala995Val)
NM_022089.4(ATP13A2):c.2991C>T (p.Leu997=)
NM_022089.4(ATP13A2):c.2T>G (p.Met1Arg) rs1557729552
NM_022089.4(ATP13A2):c.3013C>T (p.Leu1005=)
NM_022089.4(ATP13A2):c.3039C>T (p.Thr1013=)
NM_022089.4(ATP13A2):c.3040G>C (p.Gly1014Arg)
NM_022089.4(ATP13A2):c.3041_3043dup (p.Gly1014dup) rs2100654427
NM_022089.4(ATP13A2):c.3042C>T (p.Gly1014=) rs1415173041
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+18dup
NM_022089.4(ATP13A2):c.3083+2T>C rs771581490
NM_022089.4(ATP13A2):c.3083+5G>A
NM_022089.4(ATP13A2):c.3084-10G>A rs368908107
NM_022089.4(ATP13A2):c.3084-10G>T rs368908107
NM_022089.4(ATP13A2):c.3084-20C>T rs773787370
NM_022089.4(ATP13A2):c.3084-7C>A
NM_022089.4(ATP13A2):c.3084-7C>T
NM_022089.4(ATP13A2):c.3126G>C (p.Leu1042=)
NM_022089.4(ATP13A2):c.3135C>T (p.Tyr1045=)
NM_022089.4(ATP13A2):c.3136G>T (p.Glu1046Ter) rs1557666781
NM_022089.4(ATP13A2):c.3144C>T (p.Thr1048=) rs56126202
NM_022089.4(ATP13A2):c.3153dup (p.Ser1052fs)
NM_022089.4(ATP13A2):c.3157_3158del (p.Leu1053fs) rs1570759415
NM_022089.4(ATP13A2):c.3183G>A (p.Leu1061=)
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.3207G>T (p.Ala1069=)
NM_022089.4(ATP13A2):c.3222G>A (p.Pro1074=) rs372993383
NM_022089.4(ATP13A2):c.3235+11G>C
NM_022089.4(ATP13A2):c.3235+14C>T
NM_022089.4(ATP13A2):c.3235+19G>A
NM_022089.4(ATP13A2):c.3236-13C>G rs2076736733
NM_022089.4(ATP13A2):c.3236-19_3236-16del
NM_022089.4(ATP13A2):c.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.3270C>T (p.Ser1090=)
NM_022089.4(ATP13A2):c.3271G>A (p.Val1091Ile)
NM_022089.4(ATP13A2):c.3273C>G (p.Val1091=)
NM_022089.4(ATP13A2):c.3277G>C (p.Val1093Leu) rs1057522952
NM_022089.4(ATP13A2):c.327T>C (p.Thr109=)
NM_022089.4(ATP13A2):c.3301C>T (p.Leu1101Phe) rs886045577
NM_022089.4(ATP13A2):c.3314C>G (p.Pro1105Arg)
NM_022089.4(ATP13A2):c.3321G>A (p.Ala1107=) rs751916254
NM_022089.4(ATP13A2):c.3343G>A (p.Gly1115Ser) rs145674970
NM_022089.4(ATP13A2):c.3399G>A (p.Met1133Ile)
NM_022089.4(ATP13A2):c.3400C>T (p.Leu1134=)
NM_022089.4(ATP13A2):c.3405+19C>T
NM_022089.4(ATP13A2):c.3405+7C>T rs758763354
NM_022089.4(ATP13A2):c.3406-13del
NM_022089.4(ATP13A2):c.3406-8del
NM_022089.4(ATP13A2):c.3408C>A (p.Ser1136Arg) rs779310083
NM_022089.4(ATP13A2):c.3408C>T (p.Ser1136=)
NM_022089.4(ATP13A2):c.3411G>C (p.Val1137=) rs2100629081
NM_022089.4(ATP13A2):c.3414A>G (p.Leu1138=)
NM_022089.4(ATP13A2):c.3422G>T (p.Cys1141Phe)
NM_022089.4(ATP13A2):c.3423C>T (p.Cys1141=)
NM_022089.4(ATP13A2):c.3426C>A (p.Leu1142=)
NM_022089.4(ATP13A2):c.3426C>G (p.Leu1142=)
NM_022089.4(ATP13A2):c.3435C>T (p.Cys1145=)
NM_022089.4(ATP13A2):c.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.3457C>A (p.Arg1153=)
NM_022089.4(ATP13A2):c.3458G>C (p.Arg1153Pro) rs772666861
NM_022089.4(ATP13A2):c.3462C>T (p.Ala1154=) rs761171771
NM_022089.4(ATP13A2):c.347+12_347+13del
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.348-16T>C rs2077491501
NM_022089.4(ATP13A2):c.348-17C>T
NM_022089.4(ATP13A2):c.348-9_351del rs749798211
NM_022089.4(ATP13A2):c.348C>G (p.Ser116Arg) rs2077491125
NM_022089.4(ATP13A2):c.3490C>A (p.Arg1164=) rs373003359
NM_022089.4(ATP13A2):c.3490C>T (p.Arg1164Ter)
NM_022089.4(ATP13A2):c.349C>T (p.Leu117=)
NM_022089.4(ATP13A2):c.3501C>G (p.Ala1167=)
NM_022089.4(ATP13A2):c.3502G>A (p.Glu1168Lys)
NM_022089.4(ATP13A2):c.3503_3516dup (p.Pro1173fs) rs779637529
NM_022089.4(ATP13A2):c.3525C>T (p.Pro1175=)
NM_022089.4(ATP13A2):c.3535del (p.Pro1178_Leu1179insTer) rs1570752813
NM_022089.4(ATP13A2):c.3543G>A (p.Ter1181=)
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.408G>A (p.Ala136=)
NM_022089.4(ATP13A2):c.409del (p.Val137fs) rs2077487643
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.477+12A>G
NM_022089.4(ATP13A2):c.477+18C>A
NM_022089.4(ATP13A2):c.478-7C>T
NM_022089.4(ATP13A2):c.482G>A (p.Arg161Gln)
NM_022089.4(ATP13A2):c.483G>A (p.Arg161=)
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.524G>T (p.Trp175Leu) rs2077471676
NM_022089.4(ATP13A2):c.533_536dup (p.Gln179fs)
NM_022089.4(ATP13A2):c.557+1G>T
NM_022089.4(ATP13A2):c.557+7G>A
NM_022089.4(ATP13A2):c.558-11C>T rs912183101
NM_022089.4(ATP13A2):c.558-15C>T
NM_022089.4(ATP13A2):c.558-6C>T
NM_022089.4(ATP13A2):c.570T>C (p.His190=)
NM_022089.4(ATP13A2):c.572dup (p.Arg192fs)
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.604del (p.His202fs)
NM_022089.4(ATP13A2):c.619C>T (p.Gln207Ter) rs1483668823
NM_022089.4(ATP13A2):c.629T>A (p.Met210Lys)
NM_022089.4(ATP13A2):c.631G>T (p.Val211Leu)
NM_022089.4(ATP13A2):c.635+10G>C
NM_022089.4(ATP13A2):c.635+20G>A
NM_022089.4(ATP13A2):c.635+8C>T
NM_022089.4(ATP13A2):c.636-12C>A
NM_022089.4(ATP13A2):c.636-19G>A rs1001030076
NM_022089.4(ATP13A2):c.642C>T (p.Ala214=) rs2101043010
NM_022089.4(ATP13A2):c.657C>T (p.Asn219=)
NM_022089.4(ATP13A2):c.66G>A (p.Gly22=)
NM_022089.4(ATP13A2):c.702C>T (p.Asp234=)
NM_022089.4(ATP13A2):c.703G>A (p.Glu235Lys)
NM_022089.4(ATP13A2):c.705+11C>T
NM_022089.4(ATP13A2):c.706-13G>A rs374468183
NM_022089.4(ATP13A2):c.706-13G>T rs374468183
NM_022089.4(ATP13A2):c.706-16C>T rs2101010699
NM_022089.4(ATP13A2):c.706-17T>C
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.747G>A (p.Ala249=)
NM_022089.4(ATP13A2):c.774G>A (p.Trp258Ter)
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.841-15G>T
NM_022089.4(ATP13A2):c.841-18C>T
NM_022089.4(ATP13A2):c.841-20C>T
NM_022089.4(ATP13A2):c.841C>G (p.Gln281Glu) rs2077304764
NM_022089.4(ATP13A2):c.853C>T (p.Leu285=)
NM_022089.4(ATP13A2):c.864G>A (p.Met288Ile) rs866353083
NM_022089.4(ATP13A2):c.888C>T (p.Cys296=)
NM_022089.4(ATP13A2):c.894C>T (p.Cys298=)
NM_022089.4(ATP13A2):c.896G>A (p.Arg299Gln)
NM_022089.4(ATP13A2):c.900A>C (p.Pro300=)
NM_022089.4(ATP13A2):c.904G>A (p.Gly302Arg) rs948455777
NM_022089.4(ATP13A2):c.908-13T>G
NM_022089.4(ATP13A2):c.908-14C>T rs536927284
NM_022089.4(ATP13A2):c.908-18T>A
NM_022089.4(ATP13A2):c.908-19C>T
NM_022089.4(ATP13A2):c.908-20C>T rs2100997892
NM_022089.4(ATP13A2):c.908-8G>A
NM_022089.4(ATP13A2):c.919G>A (p.Val307Met)
NM_022089.4(ATP13A2):c.934C>T (p.Leu312=)
NM_022089.4(ATP13A2):c.940C>T (p.Pro314Ser) rs752006308
NM_022089.4(ATP13A2):c.942C>G (p.Pro314=)
NM_022089.4(ATP13A2):c.942C>T (p.Pro314=) rs551559306
NM_022089.4(ATP13A2):c.955G>C (p.Val319Leu) rs1557702165
NM_022089.4(ATP13A2):c.965del (p.Gln322fs)
NM_022089.4(ATP13A2):c.966G>A (p.Gln322=)
NM_025219.3(DNAJC5):c.107G>A (p.Arg36Gln)
NM_025219.3(DNAJC5):c.111G>A (p.Lys37=) rs2053641677
NM_025219.3(DNAJC5):c.141C>A (p.Asn47Lys) rs1600885575
NM_025219.3(DNAJC5):c.147C>A (p.Asp49Glu)
NM_025219.3(DNAJC5):c.147C>T (p.Asp49=)
NM_025219.3(DNAJC5):c.14G>A (p.Arg5Lys) rs1006274437
NM_025219.3(DNAJC5):c.150C>T (p.Asn50=) rs963094374
NM_025219.3(DNAJC5):c.153G>A (p.Pro51=) rs151265913
NM_025219.3(DNAJC5):c.153G>T (p.Pro51=) rs151265913
NM_025219.3(DNAJC5):c.168G>A (p.Lys56=)
NM_025219.3(DNAJC5):c.174G>A (p.Lys58=) rs2146305404
NM_025219.3(DNAJC5):c.186C>T (p.Asn62=)
NM_025219.3(DNAJC5):c.193G>A (p.Ala65Thr) rs772453351
NM_025219.3(DNAJC5):c.193G>T (p.Ala65Ser) rs772453351
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.243G>T (p.Ser81=) rs532410241
NM_025219.3(DNAJC5):c.244C>T (p.Leu82=) rs1168791937
NM_025219.3(DNAJC5):c.261C>G (p.Ala87=)
NM_025219.3(DNAJC5):c.285G>T (p.Val95=)
NM_025219.3(DNAJC5):c.301C>G (p.Leu101Val) rs2053643951
NM_025219.3(DNAJC5):c.303G>A (p.Leu101=)
NM_025219.3(DNAJC5):c.319A>C (p.Lys107Gln) rs2053644044
NM_025219.3(DNAJC5):c.321+38_321+63del rs2053644346
NM_025219.3(DNAJC5):c.321+38_321+63dup
NM_025219.3(DNAJC5):c.321+90_321+141del rs2146305682
NM_025219.3(DNAJC5):c.322-13C>T
NM_025219.3(DNAJC5):c.322-15_322-14delinsAC rs2146308175
NM_025219.3(DNAJC5):c.322-17C>T
NM_025219.3(DNAJC5):c.322-18_322-16del rs1410187166
NM_025219.3(DNAJC5):c.322-3C>A rs777923854
NM_025219.3(DNAJC5):c.322-3dup rs1173184036
NM_025219.3(DNAJC5):c.322-4C>A
NM_025219.3(DNAJC5):c.322-4C>G rs376221120
NM_025219.3(DNAJC5):c.322-5C>G rs373568941
NM_025219.3(DNAJC5):c.322-9T>A rs2146308196
NM_025219.3(DNAJC5):c.322G>T (p.Ala108Ser) rs1322303376
NM_025219.3(DNAJC5):c.327G>C (p.Leu109=) rs1555880229
NM_025219.3(DNAJC5):c.333C>G (p.Val111=) rs1037164977
NM_025219.3(DNAJC5):c.334T>C (p.Phe112Leu)
NM_025219.3(DNAJC5):c.336C>T (p.Phe112=)
NM_025219.3(DNAJC5):c.342C>T (p.Gly114=) rs746279787
NM_025219.3(DNAJC5):c.343CTC[1] (p.Leu116del) rs587776892
NM_025219.3(DNAJC5):c.346C>T (p.Leu116Phe) rs2053663677
NM_025219.3(DNAJC5):c.351G>T (p.Thr117=) rs775067598
NM_025219.3(DNAJC5):c.360C>T (p.Tyr120=)
NM_025219.3(DNAJC5):c.375G>C (p.Leu125=)
NM_025219.3(DNAJC5):c.39G>A (p.Gly13=) rs753100030
NM_025219.3(DNAJC5):c.400G>A (p.Gly134Arg)
NM_025219.3(DNAJC5):c.417G>A (p.Lys139=)
NM_025219.3(DNAJC5):c.420G>A (p.Ala140=) rs568985915
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.441G>A (p.Glu147=)
NM_025219.3(DNAJC5):c.448G>A (p.Val150Met) rs146719477
NM_025219.3(DNAJC5):c.453C>T (p.Ser151=) rs1482200561
NM_025219.3(DNAJC5):c.479A>G (p.Gln160Arg)
NM_025219.3(DNAJC5):c.483T>A (p.Ser161=) rs2146308564
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+11G>C rs760774827
NM_025219.3(DNAJC5):c.493+17G>C
NM_025219.3(DNAJC5):c.493+19G>A rs2053665643
NM_025219.3(DNAJC5):c.493+20C>A
NM_025219.3(DNAJC5):c.493+22del
NM_025219.3(DNAJC5):c.493+8C>T
NM_025219.3(DNAJC5):c.494-15G>A
NM_025219.3(DNAJC5):c.494-16T>A
NM_025219.3(DNAJC5):c.494-19C>T
NM_025219.3(DNAJC5):c.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.510G>T (p.Pro170=)
NM_025219.3(DNAJC5):c.516C>T (p.Val172=) rs2146309323
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.537C>T (p.Thr179=)
NM_025219.3(DNAJC5):c.538G>A (p.Glu180Lys)
NM_025219.3(DNAJC5):c.554C>T (p.Thr185Ile)
NM_025219.3(DNAJC5):c.558C>T (p.Ala186=)
NM_025219.3(DNAJC5):c.563C>T (p.Ser188Phe)
NM_025219.3(DNAJC5):c.570C>T (p.Pro190=) rs1349994773
NM_025219.3(DNAJC5):c.578A>G (p.His193Arg)
NM_025219.3(DNAJC5):c.57C>T (p.Val19=)
NM_025219.3(DNAJC5):c.586G>A (p.Gly196Arg) rs748741035
NM_025219.3(DNAJC5):c.587G>A (p.Gly196Glu)
NM_025219.3(DNAJC5):c.66G>A (p.Leu22=) rs1057523849
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.96A>G (p.Lys32=) rs2146303986
NM_025219.3(DNAJC5):c.99G>A (p.Lys33=) rs2146303993
NM_025219.3(DNAJC5):c.9C>T (p.Asp3=)

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