ClinVar Miner

List of variants studied for Huntington disease-like syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1263
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HGVS dbSNP gnomAD frequency
NM_033305.3(VPS13A):c.2512+116A>G rs2050831 0.84346
NM_001372574.1(ATXN2):c.42G>A (p.Gln14=) rs4098854 0.75204
NM_033305.3(VPS13A):c.8105+81G>A rs7043232 0.65470
NM_001372574.1(ATXN2):c.-91C>T rs695872 0.61029
NM_001372574.1(ATXN2):c.-162C>G rs695871 0.60874
NM_033305.3(VPS13A):c.9400-34A>T rs2025846 0.53041
NM_033305.3(VPS13A):c.3961-22A>G rs2275549 0.52711
NM_033305.3(VPS13A):c.*1024C>T rs9186 0.52644
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267 0.51379
NM_033305.3(VPS13A):c.101-62A>G rs12552898 0.51020
NM_033305.3(VPS13A):c.9069A>G (p.Gly3023=) rs3737289 0.40290
NM_033305.3(VPS13A):c.9078-133A>G rs10869920 0.39381
NM_033305.3(VPS13A):c.*1378C>A rs13286867 0.30192
NM_033305.3(VPS13A):c.1901-215G>A rs2022444 0.20477
NM_033305.3(VPS13A):c.2170+42G>A rs2021998 0.20458
NM_001372574.1(ATXN2):c.3043-12G>A rs2073950 0.19844
NM_033305.3(VPS13A):c.*222G>A rs12343797 0.19772
NM_033305.3(VPS13A):c.6492T>C (p.Asp2164=) rs7025532 0.18911
NM_001386393.1(PANK2):c.1083-14_1083-9dup rs10679953 0.15963
NM_033305.3(VPS13A):c.6378+15A>T rs12348097 0.14593
NM_001372574.1(ATXN2):c.57A>G (p.Gln19=) rs76696028 0.12201
NM_033305.2(VPS13A):c.-181G>A rs117488726 0.10492
NM_033305.3(VPS13A):c.3045G>A (p.Pro1015=) rs11145366 0.10477
NM_033305.3(VPS13A):c.6379-27G>T rs56156608 0.10471
NM_033305.3(VPS13A):c.2288+20T>C rs12335955 0.10447
NM_002103.5(GYS1):c.*725C>T rs1042265 0.08927
NM_033305.3(VPS13A):c.*565G>A rs989391 0.08398
NM_003194.5(TBP):c.216A>G (p.Gln72=) rs55736770 0.08146
NM_033305.3(VPS13A):c.2825-63T>G rs17423029 0.07996
NM_033305.3(VPS13A):c.7026+62A>G rs17424248 0.07843
NM_033305.3(VPS13A):c.615+20G>C rs17723908 0.07780
NM_033305.3(VPS13A):c.2428-50G>A rs17063468 0.07779
NM_033305.3(VPS13A):c.6027C>T (p.Tyr2009=) rs17424026 0.07721
NM_033305.3(VPS13A):c.6379-7A>T rs759586753 0.07351
NM_001386393.1(PANK2):c.2T>A rs71647828 0.06976
NM_033305.3(VPS13A):c.7027-54A>G rs72746022 0.06290
NM_033305.3(VPS13A):c.8571T>C (p.Tyr2857=) rs17340192 0.05788
NM_033305.3(VPS13A):c.8553+31G>C rs72746094 0.05781
NM_033305.3(VPS13A):c.8667+106A>G rs17340234 0.05621
NM_033305.3(VPS13A):c.5583A>G (p.Thr1861=) rs17423984 0.05526
NM_033305.3(VPS13A):c.3508-51A>G rs1317305 0.05518
NM_033305.3(VPS13A):c.3813-171C>G rs17423381 0.05518
NM_033305.3(VPS13A):c.1596-31C>T rs72742601 0.05251
NM_033305.3(VPS13A):c.883-16A>C rs72742584 0.05222
NM_033305.3(VPS13A):c.*942C>T rs1048743 0.02380
NM_033305.3(VPS13A):c.2964+13A>G rs115996561 0.02367
NM_033305.3(VPS13A):c.3108T>C (p.Ile1036=) rs78046172 0.02340
NM_033305.3(VPS13A):c.1020A>G (p.Glu340=) rs76751358 0.02305
NM_033305.3(VPS13A):c.2718A>G (p.Val906=) rs79287753 0.02299
NM_033305.3(VPS13A):c.4469G>A (p.Arg1490Lys) rs76077278 0.02297
NM_033305.3(VPS13A):c.4509A>G (p.Gln1503=) rs79914457 0.02054
NM_033305.3(VPS13A):c.2693T>C (p.Val898Ala) rs78048112 0.01850
NM_033305.3(VPS13A):c.9382T>C (p.Leu3128=) rs34255276 0.01788
NM_033305.3(VPS13A):c.9027A>G (p.Pro3009=) rs17081163 0.01458
NM_033305.3(VPS13A):c.*1186A>G rs3177 0.01392
NM_033305.3(VPS13A):c.2391A>G (p.Pro797=) rs73466058 0.01375
NM_033305.3(VPS13A):c.5747G>A (p.Ser1916Asn) rs73467962 0.01369
NM_033305.3(VPS13A):c.5802A>G (p.Leu1934=) rs73654012 0.01345
NM_033305.3(VPS13A):c.7155G>A (p.Glu2385=) rs73449933 0.01319
NM_001940.4(ATN1):c.1467G>A (p.Gln489=) rs782253884 0.01283
NM_033305.3(VPS13A):c.7806+6A>G rs74810255 0.01231
NM_002103.5(GYS1):c.*841A>G rs75797604 0.01139
NM_033305.3(VPS13A):c.5917G>A (p.Val1973Ile) rs41289969 0.00944
NM_033305.3(VPS13A):c.2910A>G (p.Glu970=) rs115565179 0.00932
NM_002103.5(GYS1):c.1926G>A (p.Val642=) rs5451 0.00912
NM_001386393.1(PANK2):c.*218A>G rs71647860 0.00876
NM_033305.3(VPS13A):c.6880-19G>C rs183040221 0.00852
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn) rs117983287 0.00817
NM_001386393.1(PANK2):c.189C>G (p.Pro63=) rs71647829 0.00808
NM_033305.3(VPS13A):c.228T>C (p.Thr76=) rs115443572 0.00762
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=) rs117485827 0.00672
NM_002103.5(GYS1):c.*908G>A rs117997270 0.00664
NM_033305.3(VPS13A):c.8472-12C>T rs115077471 0.00651
NM_033305.3(VPS13A):c.5625A>G (p.Leu1875=) rs146280301 0.00643
NM_033305.3(VPS13A):c.7053T>C (p.Ala2351=) rs139753431 0.00641
NM_033305.3(VPS13A):c.3813-15T>C rs145835861 0.00639
NM_002103.5(GYS1):c.2013C>T (p.Asp671=) rs5452 0.00624
NM_033305.3(VPS13A):c.9400-15A>C rs117688596 0.00615
NM_033305.3(VPS13A):c.3645C>A (p.Ala1215=) rs138687767 0.00582
NM_033305.3(VPS13A):c.6410A>G (p.Glu2137Gly) rs114232513 0.00574
NM_004993.6(ATXN3):c.916G>C (p.Gly306Arg) rs12895357 0.00572
NM_033305.3(VPS13A):c.5673G>A (p.Ser1891=) rs114699935 0.00559
NM_153638.4(PANK2):c.276G>A (p.Arg92=) rs142832849 0.00544
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) rs149840356 0.00532
NM_033305.3(VPS13A):c.8228A>C (p.Lys2743Thr) rs138308486 0.00517
NM_033305.3(VPS13A):c.9150G>A (p.Pro3050=) rs143089318 0.00488
NM_033305.3(VPS13A):c.5979C>T (p.Arg1993=) rs41289971 0.00487
NM_033305.3(VPS13A):c.*1458T>G rs139050715 0.00474
NM_033305.3(VPS13A):c.3083A>G (p.Glu1028Gly) rs148656796 0.00425
NM_033305.3(VPS13A):c.2037+8C>A rs41289961 0.00417
NM_002103.5(GYS1):c.*450G>A rs3745693 0.00414
NM_033305.3(VPS13A):c.5184T>C (p.Ser1728=) rs73467954 0.00400
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00397
NM_153638.4(PANK2):c.137A>T (p.Asp46Val) rs148036492 0.00346
NM_033305.3(VPS13A):c.2667+12G>A rs199995355 0.00342
NM_033305.3(VPS13A):c.101-7T>C rs190684534 0.00338
NM_033305.3(VPS13A):c.2748A>G (p.Glu916=) rs73466090 0.00324
NM_001128164.2(ATXN1):c.2150C>T (p.Ala717Val) rs41267702 0.00279
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461 0.00255
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys) rs41289967 0.00213
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu) rs144358567 0.00207
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) rs149037185 0.00199
NM_033305.3(VPS13A):c.4007A>T (p.His1336Leu) rs142058362 0.00198
NM_020655.4(JPH3):c.1398T>C (p.Thr466=) rs78661943 0.00194
NM_033305.3(VPS13A):c.5831-8T>C rs113702270 0.00190
NM_000146.4(FTL):c.522C>T (p.His174=) rs73046709 0.00184
NM_033305.3(VPS13A):c.9078-7C>T rs186819389 0.00183
NM_001386393.1(PANK2):c.960T>C (p.Thr320=) rs149583615 0.00180
NM_153638.4(PANK2):c.-11G>A rs71647826 0.00179
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr) rs141138349 0.00178
NM_033305.3(VPS13A):c.3078T>G (p.Thr1026=) rs141835897 0.00171
NM_002103.5(GYS1):c.*301G>A rs147489255 0.00165
NM_001386393.1(PANK2):c.489G>A (p.Leu163=) rs71647837 0.00164
NM_002103.5(GYS1):c.1848C>T (p.Ala616=) rs145789213 0.00163
NM_033305.3(VPS13A):c.4630+17A>G rs371320559 0.00153
NM_033305.3(VPS13A):c.-148C>T rs555695029 0.00150
NM_001386393.1(PANK2):c.*382C>T rs71647861 0.00144
NM_020655.4(JPH3):c.626G>C (p.Ser209Thr) rs144296512 0.00143
NM_033305.3(VPS13A):c.2170+13T>C rs183087425 0.00143
NM_001372574.1(ATXN2):c.-266C>T rs536609944 0.00138
NM_033305.3(VPS13A):c.4927G>A (p.Asp1643Asn) rs74622901 0.00134
NM_033305.3(VPS13A):c.6690C>T (p.Asp2230=) rs139115188 0.00115
NM_153638.4(PANK2):c.281G>C (p.Arg94Pro) rs71647827 0.00115
NM_033305.3(VPS13A):c.4041C>T (p.Ala1347=) rs74983687 0.00113
NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=) rs141528779 0.00103
NM_002103.5(GYS1):c.*421A>G rs181566066 0.00098
NM_033305.3(VPS13A):c.101-14T>G rs202024224 0.00098
NM_033305.3(VPS13A):c.5265C>T (p.Gly1755=) rs143021112 0.00096
NM_033305.3(VPS13A):c.*279A>T rs191865643 0.00095
NM_033305.3(VPS13A):c.2814A>G (p.Pro938=) rs145346590 0.00093
NM_033305.3(VPS13A):c.*933A>G rs561135773 0.00085
NM_002103.5(GYS1):c.*868A>G rs571576339 0.00083
NM_003194.5(TBP):c.221_222insGC (p.Gln75fs) rs1290125655 0.00082
NM_033305.3(VPS13A):c.5281C>T (p.Leu1761=) rs73467955 0.00070
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn) rs117320408 0.00061
NM_033305.3(VPS13A):c.6096-7C>T rs190144287 0.00061
NM_001128164.2(ATXN1):c.609G>T (p.Gln203His) rs199744696 0.00060
NM_001128164.2(ATXN1):c.621G>T (p.Gln207His) rs201030692 0.00057
NM_001386393.1(PANK2):c.298+15G>C rs566953264 0.00057
NM_033305.3(VPS13A):c.9274C>T (p.Arg3092Cys) rs146574121 0.00057
NM_001386393.1(PANK2):c.*541C>T rs886056655 0.00055
NM_033305.3(VPS13A):c.7920A>G (p.Gln2640=) rs200387635 0.00046
NM_033305.3(VPS13A):c.2667+11C>T rs375898960 0.00044
NM_033305.3(VPS13A):c.*185A>G rs773434698 0.00043
NM_000146.4(FTL):c.520C>T (p.His174Tyr) rs1803578 0.00042
NM_153638.4(PANK2):c.34C>T (p.His12Tyr) rs374286033 0.00041
NM_033305.3(VPS13A):c.8668-10G>C rs371453974 0.00039
NM_000146.4(FTL):c.*24C>T rs368083362 0.00037
NM_033305.3(VPS13A):c.4590T>G (p.Ala1530=) rs141940484 0.00036
NM_033305.3(VPS13A):c.5471A>G (p.Tyr1824Cys) rs144290291 0.00035
NM_001386393.1(PANK2):c.1265G>A (p.Arg422Gln) rs371369186 0.00032
NM_000146.4(FTL):c.-121C>T rs11553228 0.00031
NM_033305.3(VPS13A):c.3508-8T>C rs376751858 0.00031
NM_033305.3(VPS13A):c.8907+10T>G rs373895244 0.00031
NM_033305.3(VPS13A):c.7456A>G (p.Ile2486Val) rs142981309 0.00030
NM_033305.3(VPS13A):c.2124A>G (p.Ser708=) rs199682779 0.00029
NM_033305.3(VPS13A):c.1528C>T (p.Leu510=) rs147954757 0.00028
NM_001386393.1(PANK2):c.780A>G (p.Glu260=) rs375501114 0.00026
NM_033305.3(VPS13A):c.4390C>A (p.His1464Asn) rs148891181 0.00026
NM_033305.3(VPS13A):c.516G>A (p.Pro172=) rs141109675 0.00026
NM_033305.3(VPS13A):c.6905G>A (p.Ser2302Asn) rs188070090 0.00026
NM_033305.3(VPS13A):c.8225A>G (p.His2742Arg) rs145686832 0.00026
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
NM_033305.3(VPS13A):c.6984T>C (p.Ala2328=) rs144477984 0.00024
NM_002103.5(GYS1):c.2043C>T (p.Ala681=) rs142265031 0.00023
NM_033305.3(VPS13A):c.5594C>T (p.Thr1865Ile) rs143449578 0.00023
NM_001386393.1(PANK2):c.50G>T (p.Gly17Val) rs528149001 0.00022
NM_033305.3(VPS13A):c.621C>T (p.Ile207=) rs146941948 0.00021
NM_033305.3(VPS13A):c.1453-15C>T rs200334710 0.00020
NM_033305.3(VPS13A):c.6558T>C (p.Val2186=) rs112596608 0.00018
NM_033305.3(VPS13A):c.6541G>A (p.Val2181Ile) rs146158125 0.00017
NM_000146.4(FTL):c.169G>A (p.Glu57Lys) rs201241191 0.00016
NM_033305.3(VPS13A):c.5439C>T (p.Ala1813=) rs117654083 0.00016
NM_033305.3(VPS13A):c.7096C>T (p.Pro2366Ser) rs200107412 0.00016
NM_002103.5(GYS1):c.*370A>C rs185366453 0.00015
NM_153638.4(PANK2):c.280C>G (p.Arg94Gly) rs199680057 0.00015
NM_033305.3(VPS13A):c.7273G>A (p.Val2425Ile) rs189718498 0.00014
NM_033305.3(VPS13A):c.9314T>A (p.Leu3105His) rs141321409 0.00014
NM_033305.3(VPS13A):c.971A>G (p.His324Arg) rs138568018 0.00014
NM_153638.4(PANK2):c.12C>T (p.Leu4=) rs774784800 0.00014
NM_033305.3(VPS13A):c.*1194A>C rs556413345 0.00013
NM_033305.3(VPS13A):c.126A>G (p.Gln42=) rs140518771 0.00013
NM_033305.3(VPS13A):c.2496A>T (p.Pro832=) rs148754839 0.00013
NM_033305.3(VPS13A):c.3733A>G (p.Met1245Val) rs145398548 0.00013
NM_033305.3(VPS13A):c.5047A>G (p.Thr1683Ala) rs371138709 0.00013
NM_033305.3(VPS13A):c.787G>A (p.Val263Met) rs372957084 0.00013
NM_000146.4(FTL):c.-177C>T rs988614907 0.00012
NM_001386393.1(PANK2):c.53G>A (p.Arg18Gln) rs546381069 0.00011
NM_001386393.1(PANK2):c.701A>C (p.Lys234Thr) rs774676518 0.00011
NM_033305.3(VPS13A):c.1660C>T (p.Leu554Phe) rs147115148 0.00011
NM_033305.3(VPS13A):c.1785+7A>G rs367906505 0.00011
NM_033305.3(VPS13A):c.4979C>G (p.Thr1660Ser) rs139073067 0.00011
NM_033305.3(VPS13A):c.699C>T (p.Asp233=) rs138009035 0.00011
NM_033305.3(VPS13A):c.846G>A (p.Glu282=) rs376954549 0.00011
NM_033305.3(VPS13A):c.9037A>G (p.Ile3013Val) rs185663133 0.00011
NM_001386393.1(PANK2):c.1065C>G (p.Gly355=) rs564606657 0.00010
NM_001386393.1(PANK2):c.1379C>T (p.Pro460Leu) rs41279408 0.00010
NM_001386393.1(PANK2):c.887A>G (p.Lys296Arg) rs763608502 0.00010
NM_033305.3(VPS13A):c.*474G>A rs531360785 0.00010
NM_033305.3(VPS13A):c.-158G>C rs1057515644 0.00010
NM_033305.3(VPS13A):c.2889G>A (p.Thr963=) rs776098236 0.00010
NM_033305.3(VPS13A):c.3282C>T (p.Asn1094=) rs372019796 0.00010
NM_033305.3(VPS13A):c.4017A>G (p.Ile1339Met) rs151129933 0.00010
NM_000146.4(FTL):c.250-6A>G rs370216913 0.00009
NM_001386393.1(PANK2):c.1189A>C (p.Met397Leu) rs146902739 0.00009
NM_033305.3(VPS13A):c.1094A>G (p.Tyr365Cys) rs146265794 0.00009
NM_033305.3(VPS13A):c.2499T>C (p.Ser833=) rs372027471 0.00009
NM_033305.3(VPS13A):c.2922C>T (p.Pro974=) rs373768055 0.00009
NM_033305.3(VPS13A):c.5227C>T (p.Pro1743Ser) rs182495915 0.00009
NM_153638.4(PANK2):c.131G>T (p.Arg44Leu) rs200253730 0.00009
NM_001386393.1(PANK2):c.369C>A (p.Ile123=) rs150594400 0.00008
NM_021083.4(XK):c.554T>C (p.Leu185Ser) rs782066998 0.00008
NM_033305.3(VPS13A):c.2601A>G (p.Arg867=) rs145624888 0.00008
NM_033305.3(VPS13A):c.3193A>G (p.Ile1065Val) rs143067406 0.00008
NM_033305.3(VPS13A):c.3556_3557dup (p.Val1187fs) rs779746050 0.00008
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser) rs748876393 0.00008
NM_033305.3(VPS13A):c.9128A>G (p.Asn3043Ser) rs200755494 0.00008
NM_001386393.1(PANK2):c.1332+20G>A rs762399308 0.00007
NM_033305.3(VPS13A):c.1999A>C (p.Thr667Pro) rs148227344 0.00007
NM_033305.3(VPS13A):c.3706C>T (p.Leu1236=) rs189138644 0.00007
NM_033305.3(VPS13A):c.6074A>G (p.Asn2025Ser) rs371055567 0.00007
NM_000146.4(FTL):c.155T>G (p.Phe52Cys) rs543242420 0.00006
NM_001386393.1(PANK2):c.132C>T (p.Asp44=) rs781106176 0.00006
NM_001386393.1(PANK2):c.198G>A (p.Gly66=) rs751025789 0.00006
NM_001386393.1(PANK2):c.624G>A (p.Ala208=) rs78631398 0.00006
NM_001386393.1(PANK2):c.726C>T (p.Val242=) rs375227097 0.00006
NM_001386393.1(PANK2):c.815C>T (p.Pro272Leu) rs368002284 0.00006
NM_002103.5(GYS1):c.*659C>T rs367578611 0.00006
NM_033305.3(VPS13A):c.1269T>C (p.Asp423=) rs151069489 0.00006
NM_033305.3(VPS13A):c.3424A>G (p.Met1142Val) rs750174637 0.00006
NM_033305.3(VPS13A):c.4826C>T (p.Pro1609Leu) rs755454094 0.00006
NM_033305.3(VPS13A):c.7658A>T (p.Asp2553Val) rs758912053 0.00006
NM_033305.3(VPS13A):c.8212-15G>A rs771085531 0.00006
NM_033305.3(VPS13A):c.8766C>T (p.Ser2922=) rs201517936 0.00006
NM_033305.3(VPS13A):c.9119G>A (p.Arg3040Gln) rs148458576 0.00006
NM_000146.4(FTL):c.*8C>T rs373178636 0.00005
NM_001372574.1(ATXN2):c.3322A>G (p.Met1108Val) rs775411387 0.00005
NM_001386393.1(PANK2):c.*376A>G rs746515620 0.00005
NM_001386393.1(PANK2):c.434A>G (p.Asn145Ser) rs143474105 0.00005
NM_001386393.1(PANK2):c.803A>G (p.Asp268Gly) rs562740927 0.00005
NM_033305.3(VPS13A):c.1621C>T (p.His541Tyr) rs370950513 0.00005
NM_033305.3(VPS13A):c.2160C>T (p.Tyr720=) rs748268509 0.00005
NM_033305.3(VPS13A):c.2964+5G>A rs139516538 0.00005
NM_033305.3(VPS13A):c.5753A>G (p.Asp1918Gly) rs377418680 0.00005
NM_033305.3(VPS13A):c.5970C>G (p.Val1990=) rs191925614 0.00005
NM_033305.3(VPS13A):c.723T>C (p.Asn241=) rs749945516 0.00005
NM_033305.3(VPS13A):c.755-7T>C rs377234046 0.00005
NM_033305.3(VPS13A):c.8953+7A>G rs375621860 0.00005
NM_033305.3(VPS13A):c.9105T>C (p.Ser3035=) rs149474259 0.00005
NM_033305.3(VPS13A):c.963G>A (p.Val321=) rs184828562 0.00005
NM_153638.4(PANK2):c.285C>T (p.Leu95=) rs573252413 0.00005
NM_000146.4(FTL):c.87C>T (p.Tyr29=) rs779990778 0.00004
NM_001386393.1(PANK2):c.*534A>G rs780398812 0.00004
NM_001386393.1(PANK2):c.-21G>A rs780551883 0.00004
NM_001386393.1(PANK2):c.1255A>G (p.Ile419Val) rs761156912 0.00004
NM_001386393.1(PANK2):c.182C>T (p.Ser61Leu) rs1375502090 0.00004
NM_001386393.1(PANK2):c.18G>A (p.Gly6=) rs750766653 0.00004
NM_001386393.1(PANK2):c.291G>A (p.Lys97=) rs764439399 0.00004
NM_001386393.1(PANK2):c.585G>A (p.Ser195=) rs751910368 0.00004
NM_001386393.1(PANK2):c.816G>A (p.Pro272=) rs772119893 0.00004
NM_001386393.1(PANK2):c.881A>T (p.Asn294Ile) rs752078407 0.00004
NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys) rs201329683 0.00004
NM_002103.5(GYS1):c.2207G>A (p.Arg736His) rs367919986 0.00004
NM_033305.3(VPS13A):c.*665C>G rs41289985 0.00004
NM_033305.3(VPS13A):c.1212G>A (p.Thr404=) rs367698917 0.00004
NM_033305.3(VPS13A):c.2240A>G (p.Asn747Ser) rs189129300 0.00004
NM_033305.3(VPS13A):c.3466A>G (p.Ile1156Val) rs369818421 0.00004
NM_033305.3(VPS13A):c.3889C>T (p.Arg1297Ter) rs200280742 0.00004
NM_033305.3(VPS13A):c.3961-2A>C rs1244139989 0.00004
NM_033305.3(VPS13A):c.4626A>G (p.Glu1542=) rs763602189 0.00004
NM_033305.3(VPS13A):c.5898A>G (p.Val1966=) rs1042736663 0.00004
NM_033305.3(VPS13A):c.6234C>T (p.Leu2078=) rs571822890 0.00004
NM_033305.3(VPS13A):c.6613G>T (p.Gly2205Cys) rs141164942 0.00004
NM_033305.3(VPS13A):c.6739T>A (p.Ser2247Thr) rs200616248 0.00004
NM_033305.3(VPS13A):c.6840T>C (p.His2280=) rs750072063 0.00004
NM_033305.3(VPS13A):c.7179G>A (p.Val2393=) rs779653365 0.00004
NM_033305.3(VPS13A):c.7850C>T (p.Pro2617Leu) rs200293888 0.00004
NM_033305.3(VPS13A):c.981C>T (p.Ala327=) rs368425803 0.00004
NM_153638.4(PANK2):c.66G>T (p.Gly22=) rs144707315 0.00004
NC_000019.10:g.48965277C>T rs960442161 0.00003
NM_000146.4(FTL):c.375+4C>T rs369864128 0.00003
NM_000146.4(FTL):c.474G>A (p.Pro158=) rs758414077 0.00003
NM_000146.4(FTL):c.73C>T (p.Leu25=) rs201971200 0.00003
NM_001386393.1(PANK2):c.1021C>T (p.Arg341Ter) rs1250997630 0.00003
NM_001386393.1(PANK2):c.108G>C (p.Ser36=) rs1037083433 0.00003
NM_001386393.1(PANK2):c.1112_1114del (p.Arg371_Glu372delinsGln) rs766251466 0.00003
NM_001386393.1(PANK2):c.115G>A (p.Glu39Lys) rs528889529 0.00003
NM_001386393.1(PANK2):c.39G>A (p.Arg13=) rs1327793374 0.00003
NM_001386393.1(PANK2):c.905+14A>T rs745860566 0.00003
NM_001386393.1(PANK2):c.906-4A>C rs761546373 0.00003
NM_002103.5(GYS1):c.*611C>T rs370792196 0.00003
NM_033305.3(VPS13A):c.*182G>A rs983693743 0.00003
NM_033305.3(VPS13A):c.-150C>T rs560445300 0.00003
NM_033305.3(VPS13A):c.1197T>C (p.Thr399=) rs760025315 0.00003
NM_033305.3(VPS13A):c.2440A>G (p.Thr814Ala) rs564878665 0.00003
NM_033305.3(VPS13A):c.2667+4G>A rs748465954 0.00003
NM_033305.3(VPS13A):c.3146T>C (p.Ile1049Thr) rs1437731472 0.00003
NM_033305.3(VPS13A):c.4539T>C (p.Phe1513=) rs143022525 0.00003
NM_033305.3(VPS13A):c.4909A>C (p.Thr1637Pro) rs757415947 0.00003
NM_033305.3(VPS13A):c.515C>T (p.Pro172Leu) rs772689261 0.00003
NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=) rs139817600 0.00003
NM_033305.3(VPS13A):c.623G>A (p.Arg208Gln) rs201208791 0.00003
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs) rs951347128 0.00003
NM_033305.3(VPS13A):c.6667C>T (p.Arg2223Cys) rs772152953 0.00003
NM_033305.3(VPS13A):c.7278A>G (p.Gln2426=) rs554457655 0.00003
NM_033305.3(VPS13A):c.7340A>G (p.Tyr2447Cys) rs574650880 0.00003
NM_033305.3(VPS13A):c.7715A>G (p.Lys2572Arg) rs202148808 0.00003
NM_033305.3(VPS13A):c.8140A>C (p.Arg2714=) rs368161466 0.00003
NM_033305.3(VPS13A):c.9077+8C>G rs1325690140 0.00003
NM_153638.4(PANK2):c.37T>C (p.Trp13Arg) rs971003044 0.00003
NM_153638.4(PANK2):c.95C>T (p.Thr32Ile) rs530609127 0.00003
NM_000146.4(FTL):c.-46C>A rs768457741 0.00002
NM_000146.4(FTL):c.319C>T (p.Leu107=) rs751923171 0.00002
NM_000146.4(FTL):c.466G>A (p.Gly156Ser) rs151265703 0.00002
NM_001386393.1(PANK2):c.1207-11G>C rs753139032 0.00002
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met) rs137852967 0.00002
NM_001386393.1(PANK2):c.1323G>A (p.Ser441=) rs776868989 0.00002
NM_001386393.1(PANK2):c.203C>T (p.Ser68Leu) rs137852969 0.00002
NM_001386393.1(PANK2):c.204G>C (p.Ser68=) rs767219073 0.00002
NM_001386393.1(PANK2):c.294G>A (p.Arg98=) rs1443740202 0.00002
NM_001386393.1(PANK2):c.466G>A (p.Val156Met) rs753145257 0.00002
NM_001386393.1(PANK2):c.694T>C (p.Leu232=) rs143090515 0.00002
NM_001386393.1(PANK2):c.739C>T (p.Arg247Trp) rs753376100 0.00002
NM_001386393.1(PANK2):c.744A>C (p.Ser248=) rs778370524 0.00002
NM_001386393.1(PANK2):c.846_847del (p.Gly283_Val284insTer) rs778550409 0.00002
NM_033305.3(VPS13A):c.*1095A>G rs956751748 0.00002
NM_033305.3(VPS13A):c.*481G>A rs1057515664 0.00002
NM_033305.3(VPS13A):c.*503C>A rs1057515665 0.00002
NM_033305.3(VPS13A):c.116A>G (p.Lys39Arg) rs960135788 0.00002
NM_033305.3(VPS13A):c.1824A>G (p.Pro608=) rs750307161 0.00002
NM_033305.3(VPS13A):c.2191C>T (p.Arg731Ter) rs771943305 0.00002
NM_033305.3(VPS13A):c.2395A>T (p.Thr799Ser) rs764645153 0.00002
NM_033305.3(VPS13A):c.2454A>G (p.Thr818=) rs777234852 0.00002
NM_033305.3(VPS13A):c.3075C>T (p.Ser1025=) rs916979346 0.00002
NM_033305.3(VPS13A):c.3769A>G (p.Ile1257Val) rs770035274 0.00002
NM_033305.3(VPS13A):c.4470G>A (p.Arg1490=) rs369976472 0.00002
NM_033305.3(VPS13A):c.5246C>T (p.Ser1749Leu) rs781398633 0.00002
NM_033305.3(VPS13A):c.5721T>C (p.Tyr1907=) rs773977853 0.00002
NM_033305.3(VPS13A):c.5765C>A (p.Thr1922Asn) rs769409983 0.00002
NM_033305.3(VPS13A):c.588T>C (p.His196=) rs192380515 0.00002
NM_033305.3(VPS13A):c.6379-12T>G rs865850464 0.00002
NM_033305.3(VPS13A):c.6489C>T (p.His2163=) rs773384343 0.00002
NM_033305.3(VPS13A):c.6573G>T (p.Lys2191Asn) rs780035378 0.00002
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys) rs370401336 0.00002
NM_033305.3(VPS13A):c.7127A>G (p.Asn2376Ser) rs750460516 0.00002
NM_033305.3(VPS13A):c.7188C>T (p.Ala2396=) rs747802503 0.00002
NM_033305.3(VPS13A):c.7294C>G (p.Leu2432Val) rs892450419 0.00002
NM_033305.3(VPS13A):c.7953+1G>A rs372141290 0.00002
NM_033305.3(VPS13A):c.8095T>C (p.Ser2699Pro) rs758989403 0.00002
NM_033305.3(VPS13A):c.8157T>C (p.Phe2719=) rs755095881 0.00002
NM_033305.3(VPS13A):c.8211+5G>A rs183316143 0.00002
NM_033305.3(VPS13A):c.8350T>G (p.Ser2784Ala) rs368916151 0.00002
NM_033305.3(VPS13A):c.900G>A (p.Glu300=) rs750958608 0.00002
NM_033305.3(VPS13A):c.9109C>T (p.Arg3037Ter) rs199807227 0.00002
NM_033305.3(VPS13A):c.9492A>G (p.Leu3164=) rs538279569 0.00002
NM_153638.4(PANK2):c.114C>T (p.Thr38=) rs200506776 0.00002
NM_153638.4(PANK2):c.187C>T (p.Pro63Ser) rs1452787032 0.00002
NM_000146.4(FTL):c.*131A>T rs374919004 0.00001
NM_000146.4(FTL):c.-134A>T rs1463766648 0.00001
NM_000146.4(FTL):c.-168G>A rs398124635 0.00001
NM_000146.4(FTL):c.-190C>T rs1379884083 0.00001
NM_000146.4(FTL):c.-86C>T rs1319264120 0.00001
NM_000146.4(FTL):c.-92T>C rs886054563 0.00001
NM_000146.4(FTL):c.17G>A (p.Arg6His) rs1012743580 0.00001
NM_000146.4(FTL):c.199C>T (p.Leu67=) rs371965152 0.00001
NM_000146.4(FTL):c.1A>G (p.Met1Val) rs139732572 0.00001
NM_000146.4(FTL):c.207G>A (p.Met69Ile) rs1131691701 0.00001
NM_000146.4(FTL):c.286G>A (p.Ala96Thr) rs104894685 0.00001
NM_000146.4(FTL):c.302T>C (p.Met101Thr) rs750964137 0.00001
NM_000146.4(FTL):c.362G>A (p.Arg121His) rs769449169 0.00001
NM_000146.4(FTL):c.375+5G>A rs768867643 0.00001
NM_000146.4(FTL):c.473C>T (p.Pro158Leu) rs374486686 0.00001
NM_000146.4(FTL):c.492G>T (p.Glu164Asp) rs770946603 0.00001
NM_000447.3(PSEN2):c.448G>A (p.Val150Met) rs866044092 0.00001
NM_001386393.1(PANK2):c.*391C>G rs1273989006 0.00001
NM_001386393.1(PANK2):c.*407A>G rs886056654 0.00001
NM_001386393.1(PANK2):c.-10G>A rs771710781 0.00001
NM_001386393.1(PANK2):c.-20A>C rs748780222 0.00001
NM_001386393.1(PANK2):c.-32C>T rs1441505244 0.00001
NM_001386393.1(PANK2):c.1025A>G (p.Asp342Gly) rs763496520 0.00001
NM_001386393.1(PANK2):c.1038G>A (p.Gly346=) rs768111750 0.00001
NM_001386393.1(PANK2):c.1068G>T (p.Trp356Cys) rs767222898 0.00001
NM_001386393.1(PANK2):c.1083-1G>T rs148987163 0.00001
NM_001386393.1(PANK2):c.1083-20T>C rs767566162 0.00001
NM_001386393.1(PANK2):c.1083-4A>C rs562997544 0.00001
NM_001386393.1(PANK2):c.1111C>T (p.Arg371Ter) rs137852968 0.00001
NM_001386393.1(PANK2):c.1167C>T (p.Asn389=) rs776309099 0.00001
NM_001386393.1(PANK2):c.118C>A (p.Gln40Lys) rs1421161193 0.00001
NM_001386393.1(PANK2):c.1263G>A (p.Met421Ile) rs1600571977 0.00001
NM_001386393.1(PANK2):c.1322C>T (p.Ser441Leu) rs967346135 0.00001
NM_001386393.1(PANK2):c.1332+10C>T rs775900554 0.00001
NM_001386393.1(PANK2):c.133C>T (p.Pro45Ser) rs745590703 0.00001
NM_001386393.1(PANK2):c.180G>A (p.Ala60=) rs1167325149 0.00001
NM_001386393.1(PANK2):c.183G>T (p.Ser61=) rs966862550 0.00001
NM_001386393.1(PANK2):c.207T>A (p.Ala69=) rs750266345 0.00001
NM_001386393.1(PANK2):c.20G>A (p.Arg7Gln) rs911560228 0.00001
NM_001386393.1(PANK2):c.243del (p.Ser81fs) rs916725028 0.00001
NM_001386393.1(PANK2):c.258C>G (p.Val86=) rs746054643 0.00001
NM_001386393.1(PANK2):c.25C>T (p.Arg9Ter) rs944348405 0.00001
NM_001386393.1(PANK2):c.275A>G (p.Glu92Gly) rs775816922 0.00001
NM_001386393.1(PANK2):c.298+10C>T rs755815669 0.00001
NM_001386393.1(PANK2):c.298+2dup rs1309365137 0.00001
NM_001386393.1(PANK2):c.324C>T (p.Ile108=) rs756145631 0.00001
NM_001386393.1(PANK2):c.350A>G (p.Tyr117Cys) rs1555787646 0.00001
NM_001386393.1(PANK2):c.353T>C (p.Phe118Ser) rs1360807330 0.00001
NM_001386393.1(PANK2):c.370A>G (p.Thr124Ala) rs137852965 0.00001
NM_001386393.1(PANK2):c.37C>T (p.Arg13Trp) rs752138761 0.00001
NM_001386393.1(PANK2):c.384A>G (p.Glu128=) rs1168477276 0.00001
NM_001386393.1(PANK2):c.440_441insCT (p.Tyr148fs) rs1375490128 0.00001
NM_001386393.1(PANK2):c.460C>T (p.Arg154Trp) rs137852961 0.00001
NM_001386393.1(PANK2):c.461G>A (p.Arg154Gln) rs368682034 0.00001
NM_001386393.1(PANK2):c.474C>T (p.Leu158=) rs572915908 0.00001
NM_001386393.1(PANK2):c.49G>A (p.Gly17Ser) rs1214737069 0.00001
NM_001386393.1(PANK2):c.502C>T (p.Arg168Cys) rs137852966 0.00001
NM_001386393.1(PANK2):c.506A>G (p.Lys169Arg) rs975735144 0.00001
NM_001386393.1(PANK2):c.526C>T (p.Arg176Cys) rs137852962 0.00001
NM_001386393.1(PANK2):c.54G>C (p.Arg18=) rs930563925 0.00001
NM_001386393.1(PANK2):c.5G>A (p.Gly2Glu) rs774558831 0.00001
NM_001386393.1(PANK2):c.600C>G (p.Val200=) rs778032232 0.00001
NM_001386393.1(PANK2):c.618T>G (p.Gly206=) rs755691919 0.00001
NM_001386393.1(PANK2):c.629A>G (p.Lys210Arg) rs1159023197 0.00001
NM_001386393.1(PANK2):c.651+9T>C rs1194885027 0.00001
NM_001386393.1(PANK2):c.66C>T (p.Pro22=) rs754198411 0.00001
NM_001386393.1(PANK2):c.734A>G (p.Asn245Ser) rs746484727 0.00001
NM_001386393.1(PANK2):c.765C>G (p.Asn255Lys) rs1427550015 0.00001
NM_001386393.1(PANK2):c.7G>A (p.Gly3Ser) rs1432572102 0.00001
NM_001386393.1(PANK2):c.905+1G>C rs1135401789 0.00001
NM_001386393.1(PANK2):c.953G>A (p.Cys318Tyr) rs1012947103 0.00001
NM_001386393.1(PANK2):c.958A>G (p.Thr320Ala) rs748901841 0.00001
NM_001386393.1(PANK2):c.987del (p.Arg330fs) rs544616523 0.00001
NM_003194.5(TBP):c.410C>T (p.Pro137Leu) rs142540266 0.00001
NM_021083.4(XK):c.508+5G>A rs534318896 0.00001
NM_033305.3(VPS13A):c.*1078T>G rs951051787 0.00001
NM_033305.3(VPS13A):c.*1140A>T rs1360751714 0.00001
NM_033305.3(VPS13A):c.*663T>C rs1172989781 0.00001
NM_033305.3(VPS13A):c.1061A>G (p.His354Arg) rs202123189 0.00001
NM_033305.3(VPS13A):c.1165T>C (p.Leu389=) rs547171069 0.00001
NM_033305.3(VPS13A):c.1380T>C (p.Pro460=) rs750046579 0.00001
NM_033305.3(VPS13A):c.1396C>T (p.Leu466Phe) rs1042881230 0.00001
NM_033305.3(VPS13A):c.1614T>A (p.Asp538Glu) rs1238647708 0.00001
NM_033305.3(VPS13A):c.1734T>C (p.Val578=) rs201027855 0.00001
NM_033305.3(VPS13A):c.1783G>T (p.Ala595Ser) rs757058290 0.00001
NM_033305.3(VPS13A):c.1929A>G (p.Lys643=) rs749655544 0.00001
NM_033305.3(VPS13A):c.2089A>G (p.Asn697Asp) rs549929120 0.00001
NM_033305.3(VPS13A):c.2296A>G (p.Ile766Val) rs576941423 0.00001
NM_033305.3(VPS13A):c.2304A>G (p.Gly768=) rs764549391 0.00001
NM_033305.3(VPS13A):c.2766C>T (p.Tyr922=) rs763126524 0.00001
NM_033305.3(VPS13A):c.284-4A>G rs534441636 0.00001
NM_033305.3(VPS13A):c.3211A>G (p.Asn1071Asp) rs769146492 0.00001
NM_033305.3(VPS13A):c.3232G>T (p.Glu1078Ter) rs1827161118 0.00001
NM_033305.3(VPS13A):c.3250A>G (p.Met1084Val) rs368157358 0.00001
NM_033305.3(VPS13A):c.3420A>G (p.Thr1140=) rs1274810899 0.00001
NM_033305.3(VPS13A):c.3556A>G (p.Thr1186Ala) rs542933158 0.00001
NM_033305.3(VPS13A):c.3804A>C (p.Arg1268=) rs527418139 0.00001
NM_033305.3(VPS13A):c.3813-6T>C rs1057515654 0.00001
NM_033305.3(VPS13A):c.3961T>C (p.Phe1321Leu) rs781501141 0.00001
NM_033305.3(VPS13A):c.4325A>G (p.Tyr1442Cys) rs1380006812 0.00001
NM_033305.3(VPS13A):c.4586C>G (p.Thr1529Ser) rs72744294 0.00001
NM_033305.3(VPS13A):c.4602T>C (p.Ser1534=) rs752134753 0.00001
NM_033305.3(VPS13A):c.4915C>G (p.Pro1639Ala) rs377532527 0.00001
NM_033305.3(VPS13A):c.4950A>G (p.Thr1650=) rs767739134 0.00001
NM_033305.3(VPS13A):c.5191A>G (p.Ile1731Val) rs1016550070 0.00001
NM_033305.3(VPS13A):c.5795C>A (p.Thr1932Asn) rs1034458059 0.00001
NM_033305.3(VPS13A):c.587A>G (p.His196Arg) rs750690177 0.00001
NM_033305.3(VPS13A):c.6096-3C>A rs753054165 0.00001
NM_033305.3(VPS13A):c.6102C>T (p.Phe2034=) rs569599272 0.00001
NM_033305.3(VPS13A):c.610C>T (p.Arg204Cys) rs752509925 0.00001
NM_033305.3(VPS13A):c.6131A>G (p.Tyr2044Cys) rs754391863 0.00001
NM_033305.3(VPS13A):c.6184C>T (p.Leu2062Phe) rs1830592063 0.00001
NM_033305.3(VPS13A):c.622C>T (p.Arg208Ter) rs119477053 0.00001
NM_033305.3(VPS13A):c.6680A>G (p.Tyr2227Cys) rs1168343737 0.00001
NM_033305.3(VPS13A):c.6785T>C (p.Met2262Thr) rs763311249 0.00001
NM_033305.3(VPS13A):c.6906T>A (p.Ser2302Arg) rs771133301 0.00001
NM_033305.3(VPS13A):c.6978A>G (p.Ser2326=) rs192942248 0.00001
NM_033305.3(VPS13A):c.7129T>C (p.Cys2377Arg) rs1438436648 0.00001
NM_033305.3(VPS13A):c.7290-10A>G rs777376932 0.00001
NM_033305.3(VPS13A):c.7489C>T (p.Arg2497Cys) rs762732340 0.00001
NM_033305.3(VPS13A):c.7490G>A (p.Arg2497His) rs766585218 0.00001
NM_033305.3(VPS13A):c.7811G>A (p.Arg2604His) rs762985818 0.00001
NM_033305.3(VPS13A):c.7821T>C (p.Pro2607=) rs774617189 0.00001
NM_033305.3(VPS13A):c.7851G>A (p.Pro2617=) rs753711996 0.00001
NM_033305.3(VPS13A):c.7853A>G (p.His2618Arg) rs558287069 0.00001
NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter) rs1055609567 0.00001
NM_033305.3(VPS13A):c.799C>T (p.Arg267Ter) rs771004767 0.00001
NM_033305.3(VPS13A):c.8233A>G (p.Ile2745Val) rs780530847 0.00001
NM_033305.3(VPS13A):c.8325+1G>A rs1459022689 0.00001
NM_033305.3(VPS13A):c.8356A>C (p.Arg2786=) rs752608628 0.00001
NM_033305.3(VPS13A):c.8649T>G (p.Phe2883Leu) rs757219762 0.00001
NM_033305.3(VPS13A):c.8668-3T>C rs774310931 0.00001
NM_033305.3(VPS13A):c.9077+8C>T rs1325690140 0.00001
NM_033305.3(VPS13A):c.9234T>C (p.His3078=) rs766370355 0.00001
NM_033305.3(VPS13A):c.927A>G (p.Ala309=) rs749004984 0.00001
NM_033305.3(VPS13A):c.9403C>T (p.Arg3135Ter) rs148173878 0.00001
NM_153638.4(PANK2):c.104C>T (p.Pro35Leu) rs769505139 0.00001
NM_153638.4(PANK2):c.239C>T (p.Pro80Leu) rs752820848 0.00001
NM_153638.4(PANK2):c.245G>A (p.Arg82His) rs995058151 0.00001
NM_153638.4(PANK2):c.272C>G (p.Pro91Arg) rs757651957 0.00001
NM_153638.4(PANK2):c.48G>A (p.Pro16=) rs982359150 0.00001
NM_153638.4(PANK2):c.79C>A (p.Leu27Ile) rs1427393180 0.00001
NM_153638.4(PANK2):c.96C>T (p.Thr32=) rs398124549 0.00001
GRCh37/hg19 20p13(chr20:3888573-3888925)
NC_000009.12:g.77390734_77428010del
NC_000019.10:g.(?_48966261)_(48966755_?)del
NC_000019.10:g.48965263G>A rs1034875270
NC_000019.10:g.48965263G>C
NC_000019.10:g.48965270G>C
NC_000019.10:g.48965301dup
NC_000019.10:g.48965303C>T
NC_000019.10:g.48965305C>T
NC_000019.10:g.48965306del rs748868187
NC_000019.9:g.(?_49468350)_(49481434_?)del
NC_000020.10:g.(?_1959939)_(6760201_?)dup
NC_000020.10:g.(?_3869748)_(3891497_?)del
NC_000020.10:g.(?_3869748)_(3893301_?)dup
NC_000020.10:g.(?_3888553)_(3888945_?)del
NC_000020.10:g.(?_3891204)_(3893301_?)del
NC_000020.11:g.(?_3889081)_(3912654_?)del
NC_000020.11:g.3863511_3918336del
NG_008047.1:g.17267CAG[(54-68)]
NG_008165.1:g.12526CAR[46_?]
NG_008931.2:g.(188110_192927)_(194341_195522)del
NG_008931.2:g.(?_87553)_(87693_?)del
NM_000146.4(FTL):c.*76G>A rs2038463168
NM_000146.4(FTL):c.-10C>T
NM_000146.4(FTL):c.-111C>T
NM_000146.4(FTL):c.-126C>A
NM_000146.4(FTL):c.-139C>T rs2122429898
NM_000146.4(FTL):c.-143G>A
NM_000146.4(FTL):c.-144A>T
NM_000146.4(FTL):c.-148G>C rs2038438657
NM_000146.4(FTL):c.-149G>C rs398124638
NM_000146.4(FTL):c.-150C>A rs2038438612
NM_000146.4(FTL):c.-151A>G
NM_000146.4(FTL):c.-153G>A
NM_000146.4(FTL):c.-153G>T rs2122429855
NM_000146.4(FTL):c.-157G>A rs1600120873
NM_000146.4(FTL):c.-160A>G rs398124633
NM_000146.4(FTL):c.-161C>T rs398124636
NM_000146.4(FTL):c.-164C>A rs398124637
NM_000146.4(FTL):c.-166T>C rs2122429764
NM_000146.4(FTL):c.-167C>T rs2038438402
NM_000146.4(FTL):c.-168G>C rs398124635
NM_000146.4(FTL):c.-168G>T rs398124635
NM_000146.4(FTL):c.-170T>C rs2122429714
NM_000146.4(FTL):c.-173C>G rs1053572388
NM_000146.4(FTL):c.-179G>A
NM_000146.4(FTL):c.-181G>A
NM_000146.4(FTL):c.-184C>G rs955876864
NM_000146.4(FTL):c.-186C>A rs981348025
NM_000146.4(FTL):c.-186C>T
NM_000146.4(FTL):c.-189G>T rs970038885
NM_000146.4(FTL):c.-193C>G rs2038437773
NM_000146.4(FTL):c.-196G>C rs2038437702
NM_000146.4(FTL):c.-24T>C
NM_000146.4(FTL):c.-51dup rs2122430255
NM_000146.4(FTL):c.-56G>T
NM_000146.4(FTL):c.-95C>A
NM_000146.4(FTL):c.-9C>T
NM_000146.4(FTL):c.102+14A>G rs2122431045
NM_000146.4(FTL):c.102+20C>T
NM_000146.4(FTL):c.102G>A (p.Leu34=)
NM_000146.4(FTL):c.103-14A>C rs769222073
NM_000146.4(FTL):c.103-14A>G rs769222073
NM_000146.4(FTL):c.113T>C (p.Phe38Ser) rs2038445005
NM_000146.4(FTL):c.124G>A (p.Asp42Asn) rs11553257
NM_000146.4(FTL):c.12G>C (p.Gln4His) rs753168179
NM_000146.4(FTL):c.139G>C (p.Gly47Arg) rs930186818
NM_000146.4(FTL):c.139G>T (p.Gly47Cys) rs930186818
NM_000146.4(FTL):c.156C>T (p.Phe52=)
NM_000146.4(FTL):c.178C>T (p.Arg60Cys) rs2038446533
NM_000146.4(FTL):c.181G>A (p.Glu61Lys) rs2038446561
NM_000146.4(FTL):c.189C>A (p.Tyr63Ter)
NM_000146.4(FTL):c.190G>A (p.Glu64Lys) rs11553225
NM_000146.4(FTL):c.194G>A (p.Arg65His) rs1555797038
NM_000146.4(FTL):c.218G>T (p.Arg73Leu) rs2122432219
NM_000146.4(FTL):c.229G>A (p.Ala77Thr)
NM_000146.4(FTL):c.232C>T (p.Leu78Phe) rs751857518
NM_000146.4(FTL):c.234C>T (p.Leu78=) rs559383814
NM_000146.4(FTL):c.247A>G (p.Lys83Glu) rs770196454
NM_000146.4(FTL):c.249+3A>G rs2038447850
NM_000146.4(FTL):c.249+4A>G
NM_000146.4(FTL):c.249+6T>C
NM_000146.4(FTL):c.249+9T>G rs2122432498
NM_000146.4(FTL):c.253C>T (p.Pro85Ser)
NM_000146.4(FTL):c.256G>C (p.Ala86Pro) rs773293832
NM_000146.4(FTL):c.261A>C (p.Glu87Asp) rs762786833
NM_000146.4(FTL):c.263A>G (p.Asp88Gly) rs2122433970
NM_000146.4(FTL):c.271G>T (p.Gly91Cys)
NM_000146.4(FTL):c.285C>T (p.Asp95=)
NM_000146.4(FTL):c.288C>T (p.Ala96=)
NM_000146.4(FTL):c.311A>G (p.Glu104Gly) rs2038454487
NM_000146.4(FTL):c.324C>T (p.Asn108=) rs754652110
NM_000146.4(FTL):c.336G>A (p.Leu112=)
NM_000146.4(FTL):c.375+15C>A
NM_000146.4(FTL):c.375T>C (p.His125=)
NM_000146.4(FTL):c.376-11T>C
NM_000146.4(FTL):c.376-15C>T
NM_000146.4(FTL):c.376C>G (p.Leu126Val) rs775308103
NM_000146.4(FTL):c.379T>C (p.Cys127Arg) rs2122435637
NM_000146.4(FTL):c.391G>A (p.Glu131Lys)
NM_000146.4(FTL):c.417G>A (p.Val139=)
NM_000146.4(FTL):c.42G>A (p.Glu14=) rs1600121247
NM_000146.4(FTL):c.439_442dup (p.His148fs) rs2122435944
NM_000146.4(FTL):c.442dup (p.His148fs) rs2122435950
NM_000146.4(FTL):c.458dup (p.His153fs) rs587776840
NM_000146.4(FTL):c.460_461delinsCCA (p.Arg154fs)
NM_000146.4(FTL):c.460dup (p.Arg154fs) rs2122436083
NM_000146.4(FTL):c.463C>T (p.Leu155=)
NM_000146.4(FTL):c.469_484dup (p.Leu162fs) rs398124640
NM_000146.4(FTL):c.485_489dup (p.Glu164fs) rs2122436225
NM_000146.4(FTL):c.488G>A (p.Gly163Asp)
NM_000146.4(FTL):c.498_499dup (p.Phe167fs) rs1114167274
NM_000146.4(FTL):c.501C>T (p.Phe167=)
NM_000146.4(FTL):c.502G>T (p.Glu168Ter) rs768204975
NM_000146.4(FTL):c.515_516del (p.Leu172fs)
NM_000146.4(FTL):c.523G>T (p.Asp175Tyr) rs1422409524
NM_000146.4(FTL):c.71A>T (p.Tyr24Phe)
NM_000332.4(ATXN1):c.589CAG[36_38] (p.Gln208[36_38]) rs193922926
NM_001007026.1(ATN1):c.1462CAG[(6_35)] (p.Gln488[(6-35)])
NM_001007026.1(ATN1):c.1462CAG[(90_93)] (p.Gln488[(90-93)])
NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17]) rs60216939
NM_001007026.1(ATN1):c.1462CAG[49_55] (p.Gln488[49_55]) rs60216939
NM_001128164.2(ATXN1):c.1502C>T (p.Ala501Val)
NM_001128164.2(ATXN1):c.1804G>T (p.Ala602Ser) rs1760808820
NM_001128164.2(ATXN1):c.588GCA[14] (p.Gln208dup) rs193922926
NM_001128164.2(ATXN1):c.636GCA[16] (p.Gln224_Gln225dup) rs751421308
NM_001128164.2(ATXN1):c.772G>T (p.Gly258Cys) rs144962740
NM_001271604.4(JPH3):c.431CWG[41_?]
NM_001372574.1(ATXN2):c.1648C>G (p.Pro550Ala)
NM_001372574.1(ATXN2):c.1921A>C (p.Lys641Gln) rs867381855
NM_001372574.1(ATXN2):c.289-11del rs144235483
NM_001372574.1(ATXN2):c.289-11dup rs144235483
NM_001372574.1(ATXN2):c.494T>C (p.Met165Thr) rs762930876
NM_001372574.1(ATXN2):c.59AGC[8] (p.Gln28del) rs10560189
NM_001386393.1(PANK2):c.*40G>C rs1131692166
NM_001386393.1(PANK2):c.*468T>C rs541731517
NM_001386393.1(PANK2):c.*63dup rs143725982
NM_001386393.1(PANK2):c.-11G>A
NM_001386393.1(PANK2):c.-13A>G
NM_001386393.1(PANK2):c.-16G>A
NM_001386393.1(PANK2):c.-21G>T rs780551883
NM_001386393.1(PANK2):c.-22G>C
NM_001386393.1(PANK2):c.-28C>A
NM_001386393.1(PANK2):c.-28C>G
NM_001386393.1(PANK2):c.-28C>T rs544239478
NM_001386393.1(PANK2):c.-29C>G
NM_001386393.1(PANK2):c.-29C>T rs573948434
NM_001386393.1(PANK2):c.-31T>G
NM_001386393.1(PANK2):c.-37C>G
NM_001386393.1(PANK2):c.-3A>C
NM_001386393.1(PANK2):c.-40T>C rs555683860
NM_001386393.1(PANK2):c.-40T>G
NM_001386393.1(PANK2):c.-4G>C
NM_001386393.1(PANK2):c.-5C>T rs746763863
NM_001386393.1(PANK2):c.-7T>C
NM_001386393.1(PANK2):c.1002C>G (p.Thr334=) rs2146872723
NM_001386393.1(PANK2):c.1008G>A (p.Val336=)
NM_001386393.1(PANK2):c.1009G>T (p.Asp337Tyr)
NM_001386393.1(PANK2):c.100G>T (p.Val34Phe) rs547164263
NM_001386393.1(PANK2):c.1010A>G (p.Asp337Gly) rs1568575238
NM_001386393.1(PANK2):c.1024G>T (p.Asp342Tyr) rs1568575271
NM_001386393.1(PANK2):c.1025A>C (p.Asp342Ala)
NM_001386393.1(PANK2):c.1025A>T (p.Asp342Val)
NM_001386393.1(PANK2):c.1026T>C (p.Asp342=)
NM_001386393.1(PANK2):c.102C>G (p.Val34=)
NM_001386393.1(PANK2):c.1035A>T (p.Gly345=)
NM_001386393.1(PANK2):c.1041C>T (p.Asp347=)
NM_001386393.1(PANK2):c.104C>A (p.Ser35Ter)
NM_001386393.1(PANK2):c.1057C>T (p.Leu353=)
NM_001386393.1(PANK2):c.105G>T (p.Ser35=)
NM_001386393.1(PANK2):c.1061C>G (p.Pro354Arg)
NM_001386393.1(PANK2):c.1071T>C (p.Ala357=)
NM_001386393.1(PANK2):c.1080A>C (p.Ser360=)
NM_001386393.1(PANK2):c.1082+11A>G
NM_001386393.1(PANK2):c.1082+12TG[4]
NM_001386393.1(PANK2):c.1082+19del
NM_001386393.1(PANK2):c.1082+1G>C rs1600548506
NM_001386393.1(PANK2):c.1082+20C>T
NM_001386393.1(PANK2):c.1082+9_1082+10dup
NM_001386393.1(PANK2):c.1082G>A (p.Ser361Asn) rs137852963
NM_001386393.1(PANK2):c.1083-10C>T rs1442070301
NM_001386393.1(PANK2):c.1083-12C>T
NM_001386393.1(PANK2):c.1083-13T>C
NM_001386393.1(PANK2):c.1083-13del
NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCCT rs1555789541
NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCT
NM_001386393.1(PANK2):c.1083-16T>G
NM_001386393.1(PANK2):c.1083-18T>C
NM_001386393.1(PANK2):c.1083-1G>A
NM_001386393.1(PANK2):c.1083-3_1083-2del rs760705943
NM_001386393.1(PANK2):c.1083-5C>T
NM_001386393.1(PANK2):c.1083-9_1083-8insTTCCCT
NM_001386393.1(PANK2):c.1086del (p.Phe362fs) rs2146887806
NM_001386393.1(PANK2):c.108G>A (p.Ser36=)
NM_001386393.1(PANK2):c.1090_1096del (p.Gly363_Asn364insTer)
NM_001386393.1(PANK2):c.1094T>C (p.Met365Thr)
NM_001386393.1(PANK2):c.1096_1099del (p.Met366fs) rs1555789557
NM_001386393.1(PANK2):c.1097T>A (p.Met366Lys)
NM_001386393.1(PANK2):c.1100G>A (p.Ser367Asn)
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu) rs559623184
NM_001386393.1(PANK2):c.1111C>G (p.Arg371Gly)
NM_001386393.1(PANK2):c.1112G>A (p.Arg371Gln) rs1241995212
NM_001386393.1(PANK2):c.1112G>C (p.Arg371Pro) rs1241995212
NM_001386393.1(PANK2):c.1119T>C (p.Ala373=)
NM_001386393.1(PANK2):c.1122C>G (p.Val374=)
NM_001386393.1(PANK2):c.1129G>A (p.Glu377Lys)
NM_001386393.1(PANK2):c.1139C>T (p.Ala380Val)
NM_001386393.1(PANK2):c.1140C>G (p.Ala380=)
NM_001386393.1(PANK2):c.1143A>C (p.Arg381Ser)
NM_001386393.1(PANK2):c.1145C>T (p.Ala382Val)
NM_001386393.1(PANK2):c.1151T>C (p.Leu384Ser) rs111863748
NM_001386393.1(PANK2):c.1152G>C (p.Leu384Phe)
NM_001386393.1(PANK2):c.115G>T (p.Glu39Ter) rs528889529
NM_001386393.1(PANK2):c.1160T>C (p.Ile387Thr) rs2090571848
NM_001386393.1(PANK2):c.116A>G (p.Glu39Gly)
NM_001386393.1(PANK2):c.1170C>T (p.Asn390=)
NM_001386393.1(PANK2):c.1171_1174dup (p.Gly392fs)
NM_001386393.1(PANK2):c.1172T>A (p.Ile391Asn)
NM_001386393.1(PANK2):c.1172T>C (p.Ile391Thr)
NM_001386393.1(PANK2):c.1184C>A (p.Ala395Glu)
NM_001386393.1(PANK2):c.1188A>T (p.Arg396Ser)
NM_001386393.1(PANK2):c.1189del (p.Met397fs)
NM_001386393.1(PANK2):c.118C>T (p.Gln40Ter)
NM_001386393.1(PANK2):c.1195G>A (p.Ala399Thr)
NM_001386393.1(PANK2):c.1196C>T (p.Ala399Val)
NM_001386393.1(PANK2):c.119A>G (p.Gln40Arg)
NM_001386393.1(PANK2):c.11T>C (p.Leu4Ser) rs2090073827
NM_001386393.1(PANK2):c.1201A>G (p.Asn401Asp)
NM_001386393.1(PANK2):c.1206+11A>C
NM_001386393.1(PANK2):c.1206+11A>G
NM_001386393.1(PANK2):c.1206+19_1206+22del
NM_001386393.1(PANK2):c.1206+9A>G
NM_001386393.1(PANK2):c.1207-11G>A
NM_001386393.1(PANK2):c.1207-12dup rs1252234662
NM_001386393.1(PANK2):c.1207-16T>C
NM_001386393.1(PANK2):c.1207-17T>C rs1483932495
NM_001386393.1(PANK2):c.1207-20C>A
NM_001386393.1(PANK2):c.1207-3C>G rs370766524
NM_001386393.1(PANK2):c.1207-5C>T
NM_001386393.1(PANK2):c.1207-6G>A
NM_001386393.1(PANK2):c.1216C>G (p.Gln406Glu) rs1183095944
NM_001386393.1(PANK2):c.1248_1256del (p.Asn417_Ile419del)
NM_001386393.1(PANK2):c.1254G>A (p.Thr418=)
NM_001386393.1(PANK2):c.1257C>T (p.Ile419=)
NM_001386393.1(PANK2):c.1261_1262del (p.Met421fs)
NM_001386393.1(PANK2):c.1264C>T (p.Arg422Trp)
NM_001386393.1(PANK2):c.126C>T (p.Ala42=)
NM_001386393.1(PANK2):c.1275A>G (p.Ala425=)
NM_001386393.1(PANK2):c.1277A>G (p.Tyr426Cys) rs1193865095
NM_001386393.1(PANK2):c.1278T>C (p.Tyr426=)
NM_001386393.1(PANK2):c.1285G>T (p.Asp429Tyr)
NM_001386393.1(PANK2):c.129G>C (p.Gly43=)
NM_001386393.1(PANK2):c.1309A>G (p.Lys437Glu) rs2146893030
NM_001386393.1(PANK2):c.1314A>G (p.Ala438=)
NM_001386393.1(PANK2):c.1318T>C (p.Phe440Leu) rs138402319
NM_001386393.1(PANK2):c.1329C>T (p.His443=)
NM_001386393.1(PANK2):c.1330G>A (p.Glu444Lys)
NM_001386393.1(PANK2):c.1332+14T>G
NM_001386393.1(PANK2):c.1332+16C>A rs142997448
NM_001386393.1(PANK2):c.1332+16C>T
NM_001386393.1(PANK2):c.1332+17G>A
NM_001386393.1(PANK2):c.1332+8G>C
NM_001386393.1(PANK2):c.1333-12A>G rs749532706
NM_001386393.1(PANK2):c.1333-16G>T
NM_001386393.1(PANK2):c.1333-29_1333-8del
NM_001386393.1(PANK2):c.1333-4T>A
NM_001386393.1(PANK2):c.1333-8T>C
NM_001386393.1(PANK2):c.1336T>C (p.Tyr446His) rs2090674561
NM_001386393.1(PANK2):c.1352_1371del (p.Gly451fs) rs2090674600
NM_001386393.1(PANK2):c.1354G>A (p.Ala452Thr) rs886056652
NM_001386393.1(PANK2):c.1357C>T (p.Leu453Phe)
NM_001386393.1(PANK2):c.1358T>A (p.Leu453His)
NM_001386393.1(PANK2):c.1368G>A (p.Leu456=)
NM_001386393.1(PANK2):c.1370T>A (p.Leu457Ter)
NM_001386393.1(PANK2):c.1380G>A (p.Pro460=)
NM_001386393.1(PANK2):c.1380G>T (p.Pro460=)
NM_001386393.1(PANK2):c.1383A>G (p.Ter461Trp)
NM_001386393.1(PANK2):c.141G>T (p.Gly47=)
NM_001386393.1(PANK2):c.141_155dup (p.Pro52_Leu53insArgArgGlnGluPro)
NM_001386393.1(PANK2):c.142C>G (p.Arg48Gly) rs1416234460
NM_001386393.1(PANK2):c.145C>A (p.Arg49=)
NM_001386393.1(PANK2):c.157C>T (p.Leu53=)
NM_001386393.1(PANK2):c.15C>T (p.Leu5=)
NM_001386393.1(PANK2):c.165C>T (p.Arg55=)
NM_001386393.1(PANK2):c.171G>C (p.Ala57=)
NM_001386393.1(PANK2):c.175_182del (p.Ser59fs) rs755653150
NM_001386393.1(PANK2):c.176_177delinsCT (p.Ser59Thr) rs1568550594
NM_001386393.1(PANK2):c.17G>C (p.Gly6Ala) rs767712182
NM_001386393.1(PANK2):c.183G>A (p.Ser61=)
NM_001386393.1(PANK2):c.185_197del (p.Val62fs)
NM_001386393.1(PANK2):c.186G>A (p.Val62=)
NM_001386393.1(PANK2):c.186G>T (p.Val62=)
NM_001386393.1(PANK2):c.189C>T (p.Pro63=) rs71647829
NM_001386393.1(PANK2):c.189_201del (p.Ala64fs)
NM_001386393.1(PANK2):c.192G>A (p.Ala64=)
NM_001386393.1(PANK2):c.192G>C (p.Ala64=)
NM_001386393.1(PANK2):c.192G>T (p.Ala64=)
NM_001386393.1(PANK2):c.195C>G (p.Val65=)
NM_001386393.1(PANK2):c.198G>T (p.Gly66=)
NM_001386393.1(PANK2):c.201C>A (p.Ala67=) rs756936934
NM_001386393.1(PANK2):c.201C>T (p.Ala67=) rs756936934
NM_001386393.1(PANK2):c.203C>A (p.Ser68Ter) rs137852969
NM_001386393.1(PANK2):c.204G>T (p.Ser68=)
NM_001386393.1(PANK2):c.215C>A (p.Thr72Lys) rs755932521
NM_001386393.1(PANK2):c.215_216insA (p.Arg73fs)
NM_001386393.1(PANK2):c.216G>A (p.Thr72=)
NM_001386393.1(PANK2):c.21_22delinsTT (p.Gln8Ter) rs2146804492
NM_001386393.1(PANK2):c.225del (p.Arg76fs)
NM_001386393.1(PANK2):c.233G>C (p.Gly78Ala) rs1380924374
NM_001386393.1(PANK2):c.233G>T (p.Gly78Val) rs1380924374
NM_001386393.1(PANK2):c.234C>G (p.Gly78=)
NM_001386393.1(PANK2):c.236C>T (p.Ser79Phe)
NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter) rs137852960
NM_001386393.1(PANK2):c.240C>T (p.Tyr80=)
NM_001386393.1(PANK2):c.240_241del (p.Tyr80_Ser81delinsTer) rs1600477446
NM_001386393.1(PANK2):c.243C>T (p.Ser81=)
NM_001386393.1(PANK2):c.246C>T (p.Gly82=)
NM_001386393.1(PANK2):c.252C>A (p.Thr84=)
NM_001386393.1(PANK2):c.252C>T (p.Thr84=)
NM_001386393.1(PANK2):c.255G>A (p.Ser85=) rs375741383
NM_001386393.1(PANK2):c.255G>T (p.Ser85=) rs375741383
NM_001386393.1(PANK2):c.25C>G (p.Arg9Gly) rs944348405
NM_001386393.1(PANK2):c.261C>T (p.Ser87=)
NM_001386393.1(PANK2):c.262del (p.Arg88fs)
NM_001386393.1(PANK2):c.270C>T (p.Arg90=)
NM_001386393.1(PANK2):c.273C>G (p.Val91=)
NM_001386393.1(PANK2):c.273C>T (p.Val91=)
NM_001386393.1(PANK2):c.279C>T (p.Ser93=)
NM_001386393.1(PANK2):c.27A>G (p.Arg9=)
NM_001386393.1(PANK2):c.27A>T (p.Arg9=)
NM_001386393.1(PANK2):c.280C>T (p.Leu94=)
NM_001386393.1(PANK2):c.298+11C>T
NM_001386393.1(PANK2):c.298+11del
NM_001386393.1(PANK2):c.298+12G>C
NM_001386393.1(PANK2):c.298+12G>T
NM_001386393.1(PANK2):c.298+13T>A
NM_001386393.1(PANK2):c.298+18C>T
NM_001386393.1(PANK2):c.298+20C>T
NM_001386393.1(PANK2):c.298+3_298+6del
NM_001386393.1(PANK2):c.298+9T>C
NM_001386393.1(PANK2):c.299-12T>C
NM_001386393.1(PANK2):c.299-12T>G
NM_001386393.1(PANK2):c.299-14del
NM_001386393.1(PANK2):c.299-1G>A
NM_001386393.1(PANK2):c.299-6A>G
NM_001386393.1(PANK2):c.299-9C>G rs2090412291
NM_001386393.1(PANK2):c.308G>A (p.Trp103Ter)
NM_001386393.1(PANK2):c.30G>A (p.Leu10=)
NM_001386393.1(PANK2):c.314G>A (p.Gly105Glu) rs762879569
NM_001386393.1(PANK2):c.317T>A (p.Leu106Gln)
NM_001386393.1(PANK2):c.317dup (p.Asp107fs) rs2146859220
NM_001386393.1(PANK2):c.322A>C (p.Ile108Leu) rs188211202
NM_001386393.1(PANK2):c.325G>A (p.Gly109Ser)
NM_001386393.1(PANK2):c.327T>G (p.Gly109=)
NM_001386393.1(PANK2):c.336G>A (p.Leu112=)
NM_001386393.1(PANK2):c.336G>T (p.Leu112=)
NM_001386393.1(PANK2):c.339C>T (p.Val113=)
NM_001386393.1(PANK2):c.33G>A (p.Leu11=)
NM_001386393.1(PANK2):c.345G>A (p.Leu115=)
NM_001386393.1(PANK2):c.348A>G (p.Val116=)
NM_001386393.1(PANK2):c.348A>T (p.Val116=)
NM_001386393.1(PANK2):c.34C>T (p.Leu12=)
NM_001386393.1(PANK2):c.358C>T (p.Pro120Ser) rs2146859332
NM_001386393.1(PANK2):c.367A>G (p.Ile123Val) rs2146859343
NM_001386393.1(PANK2):c.369C>T (p.Ile123=)
NM_001386393.1(PANK2):c.371_380del (p.Thr124fs)
NM_001386393.1(PANK2):c.381A>G (p.Glu127=)
NM_001386393.1(PANK2):c.383A>G (p.Glu128Gly) rs2090413830
NM_001386393.1(PANK2):c.387G>A (p.Glu129=)
NM_001386393.1(PANK2):c.393A>C (p.Glu131Asp)
NM_001386393.1(PANK2):c.394G>C (p.Val132Leu)
NM_001386393.1(PANK2):c.39G>T (p.Arg13=)
NM_001386393.1(PANK2):c.40A>G (p.Met14Val) rs1368727421
NM_001386393.1(PANK2):c.415_495dup (p.Arg139_Leu165dup) rs1568569482
NM_001386393.1(PANK2):c.422A>G (p.Tyr141Cys)
NM_001386393.1(PANK2):c.425T>A (p.Leu142Gln)
NM_001386393.1(PANK2):c.425T>G (p.Leu142Arg) rs2146859529
NM_001386393.1(PANK2):c.431C>T (p.Ser144Phe)
NM_001386393.1(PANK2):c.441T>G (p.Ala147=)
NM_001386393.1(PANK2):c.444T>C (p.Tyr148=)
NM_001386393.1(PANK2):c.445G>A (p.Gly149Arg)
NM_001386393.1(PANK2):c.450T>C (p.Ser150=)
NM_001386393.1(PANK2):c.451A>G (p.Thr151Ala)
NM_001386393.1(PANK2):c.45A>C (p.Gly15=)
NM_001386393.1(PANK2):c.465C>T (p.Asp155=)
NM_001386393.1(PANK2):c.475G>A (p.Glu159Lys) rs778263915
NM_001386393.1(PANK2):c.477G>A (p.Glu159=)
NM_001386393.1(PANK2):c.47G>A (p.Gly16Glu)
NM_001386393.1(PANK2):c.47G>C (p.Gly16Ala) rs3737084
NM_001386393.1(PANK2):c.47G>T (p.Gly16Val)
NM_001386393.1(PANK2):c.493C>T (p.Leu165=)
NM_001386393.1(PANK2):c.493_494del (p.Leu165fs) rs750440690
NM_001386393.1(PANK2):c.498_499del (p.Cys166fs)
NM_001386393.1(PANK2):c.502_503delinsAC (p.Arg168Thr)
NM_001386393.1(PANK2):c.503G>A (p.Arg168His)
NM_001386393.1(PANK2):c.519C>A (p.His173Gln) rs2090416889
NM_001386393.1(PANK2):c.521_525dup (p.Arg176fs) rs1600534514
NM_001386393.1(PANK2):c.522T>C (p.Phe174=)
NM_001386393.1(PANK2):c.526C>G (p.Arg176Gly)
NM_001386393.1(PANK2):c.52C>G (p.Arg18Gly)
NM_001386393.1(PANK2):c.55C>G (p.Leu19Val) rs772205776
NM_001386393.1(PANK2):c.55C>T (p.Leu19Phe) rs772205776
NM_001386393.1(PANK2):c.566G>A (p.Gly189Asp) rs975841680
NM_001386393.1(PANK2):c.579del (p.Phe194fs) rs1568569941
NM_001386393.1(PANK2):c.57C>T (p.Leu19=)
NM_001386393.1(PANK2):c.597T>G (p.Thr199=)
NM_001386393.1(PANK2):c.600_606del (p.Phe201fs) rs879253712
NM_001386393.1(PANK2):c.604dup (p.Cys202fs)
NM_001386393.1(PANK2):c.606T>A (p.Cys202Ter) rs1555787799
NM_001386393.1(PANK2):c.609C>A (p.Ala203=)
NM_001386393.1(PANK2):c.60C>T (p.Gly20=)
NM_001386393.1(PANK2):c.624G>T (p.Ala208=) rs78631398
NM_001386393.1(PANK2):c.632T>G (p.Phe211Cys)
NM_001386393.1(PANK2):c.635A>G (p.Glu212Gly)
NM_001386393.1(PANK2):c.636G>A (p.Glu212=)
NM_001386393.1(PANK2):c.636G>T (p.Glu212Asp)
NM_001386393.1(PANK2):c.63G>A (p.Ala21=)
NM_001386393.1(PANK2):c.63G>C (p.Ala21=)
NM_001386393.1(PANK2):c.651+16C>G
NM_001386393.1(PANK2):c.651+19A>G
NM_001386393.1(PANK2):c.651+3A>C rs1131691472
NM_001386393.1(PANK2):c.651+3A>G rs1131691472
NM_001386393.1(PANK2):c.651+7A>G
NM_001386393.1(PANK2):c.652-11T>C
NM_001386393.1(PANK2):c.652-12A>G
NM_001386393.1(PANK2):c.652-14T>C
NM_001386393.1(PANK2):c.652-15C>T
NM_001386393.1(PANK2):c.652-16T>A
NM_001386393.1(PANK2):c.652-18A>C rs200451247
NM_001386393.1(PANK2):c.652-18A>G
NM_001386393.1(PANK2):c.652-19C>T
NM_001386393.1(PANK2):c.652-1G>C rs2146866687
NM_001386393.1(PANK2):c.652-2A>G
NM_001386393.1(PANK2):c.652-7A>G
NM_001386393.1(PANK2):c.652-9_652-5del
NM_001386393.1(PANK2):c.652A>G (p.Ile218Val)
NM_001386393.1(PANK2):c.655G>T (p.Gly219Cys) rs2146866714
NM_001386393.1(PANK2):c.664C>T (p.Gln222Ter) rs777414421
NM_001386393.1(PANK2):c.675A>G (p.Lys225=)
NM_001386393.1(PANK2):c.676C>T (p.Leu226=)
NM_001386393.1(PANK2):c.67A>C (p.Met23Leu) rs2146804825
NM_001386393.1(PANK2):c.67A>G (p.Met23Val) rs2146804825
NM_001386393.1(PANK2):c.687A>G (p.Leu229=)
NM_001386393.1(PANK2):c.695T>C (p.Leu232Ser)
NM_001386393.1(PANK2):c.696G>A (p.Leu232=)
NM_001386393.1(PANK2):c.6G>A (p.Gly2=)
NM_001386393.1(PANK2):c.6G>C (p.Gly2=)
NM_001386393.1(PANK2):c.706A>G (p.Ile236Val) rs2090454168
NM_001386393.1(PANK2):c.710T>C (p.Leu237Ser)
NM_001386393.1(PANK2):c.713A>T (p.Tyr238Phe)
NM_001386393.1(PANK2):c.714C>T (p.Tyr238=)
NM_001386393.1(PANK2):c.717T>C (p.Ile239=) rs1742717583
NM_001386393.1(PANK2):c.721T>C (p.Ser241Pro) rs137852964
NM_001386393.1(PANK2):c.723A>G (p.Ser241=)
NM_001386393.1(PANK2):c.728G>A (p.Gly243Glu) rs2146866985
NM_001386393.1(PANK2):c.731T>G (p.Phe244Cys)
NM_001386393.1(PANK2):c.738A>G (p.Gly246=)
NM_001386393.1(PANK2):c.73C>T (p.Arg25Cys)
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro) rs754521581
NM_001386393.1(PANK2):c.747G>A (p.Gln249=)
NM_001386393.1(PANK2):c.750C>T (p.Cys250=)
NM_001386393.1(PANK2):c.752A>G (p.Tyr251Cys) rs1568572918
NM_001386393.1(PANK2):c.755_758del (p.Tyr252fs) rs1600542260
NM_001386393.1(PANK2):c.756C>A (p.Tyr252Ter) rs1600542275
NM_001386393.1(PANK2):c.759T>C (p.Phe253=)
NM_001386393.1(PANK2):c.766C>A (p.Pro256Thr) rs777624606
NM_001386393.1(PANK2):c.766C>G (p.Pro256Ala) rs777624606
NM_001386393.1(PANK2):c.767del (p.Pro256fs) rs753400880
NM_001386393.1(PANK2):c.769G>T (p.Ala257Ser) rs1568572979
NM_001386393.1(PANK2):c.774T>C (p.Asp258=)
NM_001386393.1(PANK2):c.776C>G (p.Ser259Cys)
NM_001386393.1(PANK2):c.783G>A (p.Lys261=)
NM_001386393.1(PANK2):c.785G>A (p.Cys262Tyr) rs149907912
NM_001386393.1(PANK2):c.78C>A (p.His26Gln) rs2090076533
NM_001386393.1(PANK2):c.802G>T (p.Asp268Tyr)
NM_001386393.1(PANK2):c.806del (p.Asp268_Leu269insTer)
NM_001386393.1(PANK2):c.813T>C (p.Asn271=)
NM_001386393.1(PANK2):c.817T>C (p.Tyr273His)
NM_001386393.1(PANK2):c.819T>C (p.Tyr273=)
NM_001386393.1(PANK2):c.81C>T (p.Gly27=)
NM_001386393.1(PANK2):c.832dup (p.Val278fs) rs2090456897
NM_001386393.1(PANK2):c.838A>G (p.Ile280Val)
NM_001386393.1(PANK2):c.845C>T (p.Ser282Leu) rs2090457090
NM_001386393.1(PANK2):c.849G>A (p.Gly283=)
NM_001386393.1(PANK2):c.854G>A (p.Ser285Asn) rs2146867465
NM_001386393.1(PANK2):c.858C>T (p.Ile286=)
NM_001386393.1(PANK2):c.865G>C (p.Val289Leu) rs1011938873
NM_001386393.1(PANK2):c.868T>C (p.Tyr290His) rs1183615976
NM_001386393.1(PANK2):c.873C>A (p.Ser291=)
NM_001386393.1(PANK2):c.873C>G (p.Ser291=)
NM_001386393.1(PANK2):c.876A>G (p.Lys292=)
NM_001386393.1(PANK2):c.87T>G (p.Ala29=)
NM_001386393.1(PANK2):c.882T>G (p.Asn294Lys) rs758080048
NM_001386393.1(PANK2):c.883T>G (p.Tyr295Asp) rs1288629241
NM_001386393.1(PANK2):c.885C>G (p.Tyr295Ter)
NM_001386393.1(PANK2):c.887A>T (p.Lys296Ile)
NM_001386393.1(PANK2):c.891G>T (p.Arg297=)
NM_001386393.1(PANK2):c.8G>T (p.Gly3Val) rs1268207892
NM_001386393.1(PANK2):c.905+10A>G
NM_001386393.1(PANK2):c.905+10A>T
NM_001386393.1(PANK2):c.905+18C>T rs2146867647
NM_001386393.1(PANK2):c.905+1G>T rs1135401789
NM_001386393.1(PANK2):c.906-12T>A
NM_001386393.1(PANK2):c.906-12T>G
NM_001386393.1(PANK2):c.906-13T>G
NM_001386393.1(PANK2):c.906-18_906-15del
NM_001386393.1(PANK2):c.906-19T>A
NM_001386393.1(PANK2):c.906-21_906-19del
NM_001386393.1(PANK2):c.906-2A>C rs1261714833
NM_001386393.1(PANK2):c.906-8A>C
NM_001386393.1(PANK2):c.906-99_929del rs2146872050
NM_001386393.1(PANK2):c.90C>A (p.Ser30=)
NM_001386393.1(PANK2):c.920_921dup (p.Phe308fs) rs1555788619
NM_001386393.1(PANK2):c.923T>G (p.Phe308Cys) rs2146872412
NM_001386393.1(PANK2):c.927del (p.Phe309fs) rs1568574931
NM_001386393.1(PANK2):c.932T>G (p.Leu311Arg) rs2146872437
NM_001386393.1(PANK2):c.93C>T (p.Ala31=)
NM_001386393.1(PANK2):c.940CTT[1] (p.Leu315del) rs1064794317
NM_001386393.1(PANK2):c.944T>C (p.Leu315Pro) rs2146872522
NM_001386393.1(PANK2):c.946A>G (p.Thr316Ala)
NM_001386393.1(PANK2):c.949_961del (p.Gly317fs)
NM_001386393.1(PANK2):c.951C>G (p.Gly317=)
NM_001386393.1(PANK2):c.951C>T (p.Gly317=)
NM_001386393.1(PANK2):c.96C>T (p.Thr32=)
NM_001386393.1(PANK2):c.971C>A (p.Ala324Asp) rs1031848408
NM_001386393.1(PANK2):c.978A>G (p.Glu326=) rs1427408420
NM_001386393.1(PANK2):c.980T>C (p.Met327Thr) rs28939088
NM_001386393.1(PANK2):c.987T>C (p.Ser329=)
NM_001386393.1(PANK2):c.989G>A (p.Arg330His)
NM_001386393.1(PANK2):c.99C>T (p.Ser33=)
NM_001386393.1(PANK2):c.9C>T (p.Gly3=)
NM_001940.4(ATN1):c.1464GCA[14] (p.Gln502del) rs60216939
NM_001940.4(ATN1):c.1464GCA[16] (p.Gln502dup) rs60216939
NM_001940.4(ATN1):c.1604C>A (p.Ser535Tyr)
NM_001940.4(ATN1):c.3182TGCACC[3] (p.1061LH[3]) rs2138219961
NM_002103.5(GYS1):c.*1113_*1116del rs148396922
NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys) rs561646250
NM_002103.5(GYS1):c.1749C>A (p.Ile583=) rs146698792
NM_002973.4(ATXN2):c.16CAG[22_31] (p.6Gln[22_31]) rs1885090126
NM_002973.4(ATXN2):c.16CAG[27_33] (p.6Gln[27_33]) rs1885090126
NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?]) rs1885090126
NM_003194.5(TBP):c.216_218del (p.Gln95del) rs71815788
NM_003194.5(TBP):c.225GCA[25] (p.Gln95_Ala96insGlnGlnGlnGlnGlnGln)
NM_004993.5(ATXN3):c.886_888CAG(12_44) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
NM_004993.5(ATXN3):c.886_888CAG(60_86) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
NM_004993.6(ATXN3):c.892CAG[12] (p.Gln302_Gln305dup) rs193922928
NM_004993.6(ATXN3):c.892CAG[8_36] rs193922928
NM_006019.4(TCIRG1):c.713+1G>T rs774308815
NM_020655.4(JPH3):c.955C>T (p.Arg319Trp) rs148131421
NM_021083.4(XK):c.100C>G (p.Arg34Gly)
NM_021083.4(XK):c.1013del (p.Phe338fs) rs1602159120
NM_021083.4(XK):c.1220C>T (p.Pro407Leu)
NM_021083.4(XK):c.200C>T (p.Pro67Leu)
NM_021083.4(XK):c.335A>G (p.Asn112Ser)
NM_021083.4(XK):c.404C>T (p.Ala135Val)
NM_021083.4(XK):c.508+1G>A rs1602145991
NM_021083.4(XK):c.509-1G>A rs1602158863
NM_021083.4(XK):c.664C>G (p.Arg222Gly) rs2146834483
NM_021083.4(XK):c.664C>T (p.Arg222Ter) rs2146834483
NM_021083.4(XK):c.794A>G (p.Glu265Gly)
NM_021083.4(XK):c.85C>G (p.Arg29Gly)
NM_021083.4(XK):c.880T>C (p.Cys294Arg) rs28933690
NM_021083.4(XK):c.895C>T (p.Gln299Ter) rs104894954
NM_021083.4(XK):c.938_951del (p.Asn313fs) rs2146834690
NM_021083.4(XK):c.941G>A (p.Trp314Ter) rs104894953
NM_021083.4(XK):c.979G>A (p.Glu327Lys) rs2146834720
NM_033305.2(VPS13A):c.-183G>A rs12349389
NM_033305.2(VPS13A):c.-183G>C rs12349389
NM_033305.2(VPS13A):c.-232G>C rs545092496
NM_033305.2(VPS13A):c.-264G>C rs542679691
NM_033305.3(VPS13A):c.*106T>G rs1835160786
NM_033305.3(VPS13A):c.*1133A>C rs182044001
NM_033305.3(VPS13A):c.*1248_*1251dup rs1057515668
NM_033305.3(VPS13A):c.*133CAAA[1] rs914078686
NM_033305.3(VPS13A):c.*274AGA[1] rs147672353
NM_033305.3(VPS13A):c.*409A>G rs975807327
NM_033305.3(VPS13A):c.*694C>A rs115104076
NM_033305.3(VPS13A):c.*774_*776del rs549219168
NM_033305.3(VPS13A):c.*81A>G rs1057515661
NM_033305.3(VPS13A):c.*990T>A rs1203318328
NM_033305.3(VPS13A):c.-16A>T rs372360076
NM_033305.3(VPS13A):c.1146T>A (p.Leu382=) rs556865512
NM_033305.3(VPS13A):c.1155T>C (p.Ser385=) rs774931205
NM_033305.3(VPS13A):c.1303T>C (p.Trp435Arg) rs550188251
NM_033305.3(VPS13A):c.1305G>A (p.Trp435Ter) rs761923202
NM_033305.3(VPS13A):c.144+1G>C
NM_033305.3(VPS13A):c.14C>A (p.Ser5Ter) rs2131030007
NM_033305.3(VPS13A):c.1581A>G (p.Gly527=) rs757215593
NM_033305.3(VPS13A):c.1596-10_1596-8del rs748907586
NM_033305.3(VPS13A):c.159A>G (p.Val53=) rs1057515645
NM_033305.3(VPS13A):c.1616C>G (p.Ser539Ter)
NM_033305.3(VPS13A):c.1744T>C (p.Cys582Arg) rs1057515651
NM_033305.3(VPS13A):c.1792G>C (p.Val598Leu) rs759600403
NM_033305.3(VPS13A):c.1900+9C>T rs773690202
NM_033305.3(VPS13A):c.1A>T (p.Met1Leu) rs2131029946
NM_033305.3(VPS13A):c.2037+191T>C rs10115162
NM_033305.3(VPS13A):c.2136A>C (p.Gln712His) rs1389344705
NM_033305.3(VPS13A):c.2175T>G (p.Asp725Glu) rs1057515652
NM_033305.3(VPS13A):c.2252_2253insGA (p.Lys752fs) rs1825188183
NM_033305.3(VPS13A):c.2326C>T (p.Arg776Ter) rs1417246536
NM_033305.3(VPS13A):c.2475A>G (p.Ile825Met) rs1826457641
NM_033305.3(VPS13A):c.2500del (p.Val834fs) rs2131325474
NM_033305.3(VPS13A):c.2512+1G>A
NM_033305.3(VPS13A):c.2513-2A>T rs1037030970
NM_033305.3(VPS13A):c.269T>A (p.Ile90Lys) rs119477052
NM_033305.3(VPS13A):c.2723T>A (p.Ile908Asn) rs1826653395
NM_033305.3(VPS13A):c.2783C>A (p.Ala928Asp) rs757651034
NM_033305.3(VPS13A):c.2783C>T (p.Ala928Val) rs757651034
NM_033305.3(VPS13A):c.283+20del rs199782752
NM_033305.3(VPS13A):c.2841A>G (p.Pro947=) rs1826936558
NM_033305.3(VPS13A):c.2869A>G (p.Thr957Ala) rs1248091059
NM_033305.3(VPS13A):c.2951T>A (p.Leu984Ter)
NM_033305.3(VPS13A):c.2953C>T (p.Gln985Ter) rs1827048548
NM_033305.3(VPS13A):c.295_297del (p.Asp99del) rs759258746
NM_033305.3(VPS13A):c.2982G>C (p.Leu994Phe) rs1169530629
NM_033305.3(VPS13A):c.3114del (p.Lys1038fs)
NM_033305.3(VPS13A):c.3118+66A>C rs11145367
NM_033305.3(VPS13A):c.3340-5_3340-3del rs746510956
NM_033305.3(VPS13A):c.337C>T (p.Gln113Ter) rs780664594
NM_033305.3(VPS13A):c.3499_3503del (p.Ser1167fs) rs1827795601
NM_033305.3(VPS13A):c.3508-44G>T rs1317304
NM_033305.3(VPS13A):c.3637A>G (p.Ile1213Val) rs1172751806
NM_033305.3(VPS13A):c.3658A>C (p.Ile1220Leu) rs1232607771
NM_033305.3(VPS13A):c.3714A>C (p.Thr1238=) rs769379977
NM_033305.3(VPS13A):c.3743_3746dup (p.Ser1249fs)
NM_033305.3(VPS13A):c.385+6_385+15del rs72275336
NM_033305.3(VPS13A):c.3961-6del rs3216012
NM_033305.3(VPS13A):c.3961-6dup rs3216012
NM_033305.3(VPS13A):c.4185C>T (p.Asn1395=) rs773982653
NM_033305.3(VPS13A):c.4190G>A (p.Ser1397Asn) rs1392223813
NM_033305.3(VPS13A):c.4223A>G (p.Tyr1408Cys) rs1829245513
NM_033305.3(VPS13A):c.4246dup (p.Ser1416fs) rs2131427489
NM_033305.3(VPS13A):c.4356del (p.Ser1452_Leu1453insTer)
NM_033305.3(VPS13A):c.4386A>G (p.Arg1462=) rs1829282039
NM_033305.3(VPS13A):c.4411C>T (p.Arg1471Ter) rs1193250444
NM_033305.3(VPS13A):c.4715del (p.Asn1572fs) rs2131432786
NM_033305.3(VPS13A):c.4765G>A (p.Gly1589Ser) rs1829384544
NM_033305.3(VPS13A):c.4918C>T (p.Gln1640Ter) rs1829478568
NM_033305.3(VPS13A):c.496-9C>T rs370541609
NM_033305.3(VPS13A):c.5003T>G (p.Leu1668Arg) rs372255312
NM_033305.3(VPS13A):c.5041T>G (p.Ser1681Ala) rs1181531896
NM_033305.3(VPS13A):c.505C>T (p.Arg169Trp) rs139380985
NM_033305.3(VPS13A):c.5117_5122del (p.Thr1706_Glu1707del) rs753852395
NM_033305.3(VPS13A):c.5156G>T (p.Gly1719Val) rs1829532129
NM_033305.3(VPS13A):c.5157C>T (p.Gly1719=) rs1829532281
NM_033305.3(VPS13A):c.5248C>T (p.Arg1750Cys) rs149067717
NM_033305.3(VPS13A):c.5481A>G (p.Pro1827=) rs1829726014
NM_033305.3(VPS13A):c.5532A>C (p.Thr1844=) rs370144264
NM_033305.3(VPS13A):c.555+1G>A rs1590003601
NM_033305.3(VPS13A):c.5574+1G>A rs1829731758
NM_033305.3(VPS13A):c.5599T>A (p.Ser1867Thr) rs2131449438
NM_033305.3(VPS13A):c.5687T>C (p.Phe1896Ser) rs1339880855
NM_033305.3(VPS13A):c.5855A>G (p.Asp1952Gly) rs1336467149
NM_033305.3(VPS13A):c.5899del (p.Arg1967fs)
NM_033305.3(VPS13A):c.5909_5910del (p.Glu1970fs) rs1251833565
NM_033305.3(VPS13A):c.6018G>A (p.Leu2006=) rs201300715
NM_033305.3(VPS13A):c.6039C>A (p.Thr2013=) rs528628591
NM_033305.3(VPS13A):c.6059del (p.Pro2020fs) rs781242821
NM_033305.3(VPS13A):c.616-47A>T rs2131153308
NM_033305.3(VPS13A):c.6200G>A (p.Cys2067Tyr) rs770789453
NM_033305.3(VPS13A):c.6283del (p.Ser2095fs) rs1587612257
NM_033305.3(VPS13A):c.6297G>C (p.Trp2099Cys)
NM_033305.3(VPS13A):c.6367_6374del (p.Tyr2123fs) rs1485186943
NM_033305.3(VPS13A):c.6379-1G>C
NM_033305.3(VPS13A):c.6485A>T (p.Asn2162Ile) rs769503145
NM_033305.3(VPS13A):c.649A>G (p.Asn217Asp) rs1826073644
NM_033305.3(VPS13A):c.6591T>C (p.Ala2197=) rs1057515657
NM_033305.3(VPS13A):c.667T>G (p.Phe223Val) rs1287394997
NM_033305.3(VPS13A):c.672_676del (p.Tyr224_Ser226delinsTer) rs2131153683
NM_033305.3(VPS13A):c.6818C>A (p.Ser2273Ter) rs1830740171
NM_033305.3(VPS13A):c.6880-6dup rs140476942
NM_033305.3(VPS13A):c.7027-1G>A
NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=) rs143259810
NM_033305.3(VPS13A):c.7155+14dup rs747383490
NM_033305.3(VPS13A):c.7214T>G (p.Leu2405Ter)
NM_033305.3(VPS13A):c.7231G>T (p.Ala2411Ser) rs760875004
NM_033305.3(VPS13A):c.7237A>G (p.Thr2413Ala) rs1057515659
NM_033305.3(VPS13A):c.7419+1G>A rs763654348
NM_033305.3(VPS13A):c.7420-4C>T rs764829121
NM_033305.3(VPS13A):c.755-1G>A
NM_033305.3(VPS13A):c.7736_7739del (p.Arg2579fs) rs748828128
NM_033305.3(VPS13A):c.7953G>C (p.Gln2651His) rs774310423
NM_033305.3(VPS13A):c.8035G>A (p.Ala2679Thr) rs1587653832
NM_033305.3(VPS13A):c.811G>T (p.Asp271Tyr)
NM_033305.3(VPS13A):c.8148del (p.Phe2719fs)
NM_033305.3(VPS13A):c.8211+9del rs752070804
NM_033305.3(VPS13A):c.8375C>G (p.Ser2792Ter) rs756865623
NM_033305.3(VPS13A):c.844_848del (p.Glu282fs)
NM_033305.3(VPS13A):c.8472-11G>T rs1281741862
NM_033305.3(VPS13A):c.8668-1G>A rs2131587158
NM_033305.3(VPS13A):c.8737G>A (p.Ala2913Thr)
NM_033305.3(VPS13A):c.8744-2A>G
NM_033305.3(VPS13A):c.8982C>T (p.Phe2994=) rs998711723
NM_033305.3(VPS13A):c.904C>T (p.Leu302Phe) rs541051874
NM_033305.3(VPS13A):c.9067_9069delinsTGG (p.Gly3023Trp)
NM_033305.3(VPS13A):c.9189+2495C>T
NM_033305.3(VPS13A):c.9189+2545TGA[6] rs113052866
NM_033305.3(VPS13A):c.9189+2545TGA[9] rs113052866
NM_033305.3(VPS13A):c.9193A>G (p.Met3065Val) rs1057515660
NM_033305.3(VPS13A):c.9243_9246del (p.Asn3082fs)
NM_033305.3(VPS13A):c.9263T>G (p.Met3088Arg)
NM_033305.3(VPS13A):c.9287_9290dup (p.Thr3098fs) rs1834577610
NM_033305.3(VPS13A):c.9326G>A (p.Trp3109Ter) rs773932109
NM_033305.3(VPS13A):c.9431_9432del (p.Glu3144fs) rs1085307750
NM_033305.3(VPS13A):c.989+28del rs751974264
NM_153638.4(PANK2):c.105C>T (p.Pro35=)
NM_153638.4(PANK2):c.108C>T (p.Ser36=)
NM_153638.4(PANK2):c.113C>A (p.Thr38Asn) rs1426406978
NM_153638.4(PANK2):c.114C>A (p.Thr38=)
NM_153638.4(PANK2):c.117C>A (p.Thr39=)
NM_153638.4(PANK2):c.118C>T (p.Leu40Phe)
NM_153638.4(PANK2):c.123C>T (p.Ser41=)
NM_153638.4(PANK2):c.126G>T (p.Pro42=)
NM_153638.4(PANK2):c.126del (p.Arg44fs) rs1600474748
NM_153638.4(PANK2):c.129C>T (p.Pro43=)
NM_153638.4(PANK2):c.12C>G (p.Leu4=)
NM_153638.4(PANK2):c.141C>T (p.Ser47=)
NM_153638.4(PANK2):c.148T>C (p.Leu50=)
NM_153638.4(PANK2):c.14G>A (p.Gly5Glu)
NM_153638.4(PANK2):c.153C>T (p.Asp51=)
NM_153638.4(PANK2):c.159C>T (p.Gly53=) rs1485088384
NM_153638.4(PANK2):c.160A>G (p.Thr54Ala) rs2146803538
NM_153638.4(PANK2):c.172C>T (p.Pro58Ser)
NM_153638.4(PANK2):c.189G>A (p.Pro63=)
NM_153638.4(PANK2):c.18C>T (p.Pro6=)
NM_153638.4(PANK2):c.200A>C (p.Glu67Ala) rs2146803693
NM_153638.4(PANK2):c.209G>C (p.Gly70Ala)
NM_153638.4(PANK2):c.213G>C (p.Pro71=)
NM_153638.4(PANK2):c.219A>G (p.Pro73=)
NM_153638.4(PANK2):c.222C>G (p.Ala74=)
NM_153638.4(PANK2):c.243G>T (p.Ala81=)
NM_153638.4(PANK2):c.24C>T (p.His8=)
NM_153638.4(PANK2):c.252C>T (p.Arg84=)
NM_153638.4(PANK2):c.258A>C (p.Gly86=)
NM_153638.4(PANK2):c.264C>T (p.Gly88=)
NM_153638.4(PANK2):c.272C>T (p.Pro91Leu) rs757651957
NM_153638.4(PANK2):c.273G>A (p.Pro91=)
NM_153638.4(PANK2):c.273G>C (p.Pro91=)
NM_153638.4(PANK2):c.280C>A (p.Arg94Ser)
NM_153638.4(PANK2):c.283C>A (p.Leu95Ile) rs558404718
NM_153638.4(PANK2):c.283C>T (p.Leu95Phe) rs558404718
NM_153638.4(PANK2):c.30C>T (p.Arg10=)
NM_153638.4(PANK2):c.31G>A (p.Val11Ile) rs886044063
NM_153638.4(PANK2):c.38G>A (p.Trp13Ter)
NM_153638.4(PANK2):c.42G>A (p.Ala14=)
NM_153638.4(PANK2):c.42_67del (p.Ala15fs) rs760822872
NM_153638.4(PANK2):c.45G>A (p.Ala15=)
NM_153638.4(PANK2):c.54A>G (p.Ser18=) rs886056650
NM_153638.4(PANK2):c.55C>T (p.Leu19Phe) rs1568549056
NM_153638.4(PANK2):c.58T>C (p.Ser20Pro)
NM_153638.4(PANK2):c.66G>A (p.Gly22=)
NM_153638.4(PANK2):c.66G>C (p.Gly22=)
NM_153638.4(PANK2):c.68_69insTG (p.His24fs)
NM_153638.4(PANK2):c.69A>G (p.Leu23=)
NM_153638.4(PANK2):c.7A>C (p.Arg3=)
NM_153638.4(PANK2):c.81C>G (p.Leu27=)
NM_153638.4(PANK2):c.84C>T (p.Phe28=)
NM_153638.4(PANK2):c.89G>C (p.Arg30Pro)
NM_153638.4(PANK2):c.99G>A (p.Arg33=)
NM_153638.4(PANK2):c.9G>A (p.Arg3=)
NM_153638.4(PANK2):c.9G>T (p.Arg3Ser) rs1211425299
Single allele
XK, 1-BP DEL

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