NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys)
|
rs149840356
|
0.00532
|
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)
|
rs149694033
|
0.00397
|
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp)
|
rs41307461
|
0.00255
|
NM_033305.3(VPS13A):c.5831-8T>C
|
rs113702270
|
0.00190
|
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_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.5292G>T (p.Leu1764=)
|
rs141528779
|
0.00103
|
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_003194.5(TBP):c.221_222insGC (p.Gln75fs)
|
rs1290125655
|
0.00082
|
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn)
|
rs117320408
|
0.00061
|
NM_001386393.1(PANK2):c.298+15G>C
|
rs566953264
|
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_033305.3(VPS13A):c.5471A>G (p.Tyr1824Cys)
|
rs144290291
|
0.00035
|
NM_001386393.1(PANK2):c.1265G>A (p.Arg422Gln)
|
rs371369186
|
0.00032
|
NM_033305.3(VPS13A):c.1528C>T (p.Leu510=)
|
rs147954757
|
0.00028
|
NM_033305.3(VPS13A):c.4390C>A (p.His1464Asn)
|
rs148891181
|
0.00026
|
NM_033305.3(VPS13A):c.8225A>G (p.His2742Arg)
|
rs145686832
|
0.00026
|
NM_033305.3(VPS13A):c.6541G>A (p.Val2181Ile)
|
rs146158125
|
0.00017
|
NM_033305.3(VPS13A):c.7096C>T (p.Pro2366Ser)
|
rs200107412
|
0.00016
|
NM_153638.4(PANK2):c.280C>G (p.Arg94Gly)
|
rs199680057
|
0.00015
|
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_033305.3(VPS13A):c.*1194A>C
|
rs556413345
|
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_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.3282C>T (p.Asn1094=)
|
rs372019796
|
0.00010
|
NM_033305.3(VPS13A):c.4017A>G (p.Ile1339Met)
|
rs151129933
|
0.00010
|
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.2922C>T (p.Pro974=)
|
rs373768055
|
0.00009
|
NM_153638.4(PANK2):c.131G>T (p.Arg44Leu)
|
rs200253730
|
0.00009
|
NM_021083.4(XK):c.554T>C (p.Leu185Ser)
|
rs782066998
|
0.00008
|
NM_033305.3(VPS13A):c.3193A>G (p.Ile1065Val)
|
rs143067406
|
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_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.815C>T (p.Pro272Leu)
|
rs368002284
|
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_000146.4(FTL):c.*8C>T
|
rs373178636
|
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.5753A>G (p.Asp1918Gly)
|
rs377418680
|
0.00005
|
NM_033305.3(VPS13A):c.755-7T>C
|
rs377234046
|
0.00005
|
NM_033305.3(VPS13A):c.963G>A (p.Val321=)
|
rs184828562
|
0.00005
|
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.182C>T (p.Ser61Leu)
|
rs1375502090
|
0.00004
|
NM_001386393.1(PANK2):c.18G>A (p.Gly6=)
|
rs750766653
|
0.00004
|
NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys)
|
rs201329683
|
0.00004
|
NM_033305.3(VPS13A):c.*665C>G
|
rs41289985
|
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.5898A>G (p.Val1966=)
|
rs1042736663
|
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
|
NC_000019.10:g.48965277C>T
|
rs960442161
|
0.00003
|
NM_000146.4(FTL):c.375+4C>T
|
rs369864128
|
0.00003
|
NM_001386393.1(PANK2):c.115G>A (p.Glu39Lys)
|
rs528889529
|
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.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.466G>A (p.Gly156Ser)
|
rs151265703
|
0.00002
|
NM_001386393.1(PANK2):c.203C>T (p.Ser68Leu)
|
rs137852969
|
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_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.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.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.8095T>C (p.Ser2699Pro)
|
rs758989403
|
0.00002
|
NM_033305.3(VPS13A):c.8157T>C (p.Phe2719=)
|
rs755095881
|
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.-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.1A>G (p.Met1Val)
|
rs139732572
|
0.00001
|
NM_000146.4(FTL):c.207G>A (p.Met69Ile)
|
rs1131691701
|
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_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.1068G>T (p.Trp356Cys)
|
rs767222898
|
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.133C>T (p.Pro45Ser)
|
rs745590703
|
0.00001
|
NM_001386393.1(PANK2):c.20G>A (p.Arg7Gln)
|
rs911560228
|
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.37C>T (p.Arg13Trp)
|
rs752138761
|
0.00001
|
NM_001386393.1(PANK2):c.49G>A (p.Gly17Ser)
|
rs1214737069
|
0.00001
|
NM_001386393.1(PANK2):c.506A>G (p.Lys169Arg)
|
rs975735144
|
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.629A>G (p.Lys210Arg)
|
rs1159023197
|
0.00001
|
NM_001386393.1(PANK2):c.66C>T (p.Pro22=)
|
rs754198411
|
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.953G>A (p.Cys318Tyr)
|
rs1012947103
|
0.00001
|
NM_001386393.1(PANK2):c.958A>G (p.Thr320Ala)
|
rs748901841
|
0.00001
|
NM_003194.5(TBP):c.410C>T (p.Pro137Leu)
|
rs142540266
|
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.1396C>T (p.Leu466Phe)
|
rs1042881230
|
0.00001
|
NM_033305.3(VPS13A):c.1614T>A (p.Asp538Glu)
|
rs1238647708
|
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.3211A>G (p.Asn1071Asp)
|
rs769146492
|
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.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.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.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.7853A>G (p.His2618Arg)
|
rs558287069
|
0.00001
|
NM_033305.3(VPS13A):c.8233A>G (p.Ile2745Val)
|
rs780530847
|
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.9234T>C (p.His3078=)
|
rs766370355
|
0.00001
|
NM_033305.3(VPS13A):c.927A>G (p.Ala309=)
|
rs749004984
|
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.79C>A (p.Leu27Ile)
|
rs1427393180
|
0.00001
|
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_000019.9:g.(?_49468350)_(49481434_?)del
|
|
|
NC_000020.10:g.(?_1959939)_(6760201_?)dup
|
|
|
NC_000020.10:g.(?_3869748)_(3893301_?)dup
|
|
|
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.-153G>A
|
|
|
NM_000146.4(FTL):c.-153G>T
|
rs2122429855
|
|
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.102G>A (p.Leu34=)
|
|
|
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.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.247A>G (p.Lys83Glu)
|
rs770196454
|
|
NM_000146.4(FTL):c.249+3A>G
|
rs2038447850
|
|
NM_000146.4(FTL):c.249+6T>C
|
|
|
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.311A>G (p.Glu104Gly)
|
rs2038454487
|
|
NM_000146.4(FTL):c.324C>T (p.Asn108=)
|
rs754652110
|
|
NM_000146.4(FTL):c.375T>C (p.His125=)
|
|
|
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.488G>A (p.Gly163Asp)
|
|
|
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_001128164.2(ATXN1):c.1502C>T (p.Ala501Val)
|
|
|
NM_001128164.2(ATXN1):c.1804G>T (p.Ala602Ser)
|
rs1760808820
|
|
NM_001372574.1(ATXN2):c.1648C>G (p.Pro550Ala)
|
|
|
NM_001372574.1(ATXN2):c.1921A>C (p.Lys641Gln)
|
rs867381855
|
|
NM_001372574.1(ATXN2):c.494T>C (p.Met165Thr)
|
rs762930876
|
|
NM_001386393.1(PANK2):c.*468T>C
|
rs541731517
|
|
NM_001386393.1(PANK2):c.-11G>A
|
|
|
NM_001386393.1(PANK2):c.-22G>C
|
|
|
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.-3A>C
|
|
|
NM_001386393.1(PANK2):c.-5C>T
|
rs746763863
|
|
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.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.1143A>C (p.Arg381Ser)
|
|
|
NM_001386393.1(PANK2):c.1152G>C (p.Leu384Phe)
|
|
|
NM_001386393.1(PANK2):c.1160T>C (p.Ile387Thr)
|
rs2090571848
|
|
NM_001386393.1(PANK2):c.116A>G (p.Glu39Gly)
|
|
|
NM_001386393.1(PANK2):c.1188A>T (p.Arg396Ser)
|
|
|
NM_001386393.1(PANK2):c.1195G>A (p.Ala399Thr)
|
|
|
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.1207-11G>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.1285G>T (p.Asp429Tyr)
|
|
|
NM_001386393.1(PANK2):c.1309A>G (p.Lys437Glu)
|
rs2146893030
|
|
NM_001386393.1(PANK2):c.1318T>C (p.Phe440Leu)
|
rs138402319
|
|
NM_001386393.1(PANK2):c.1333-29_1333-8del
|
|
|
NM_001386393.1(PANK2):c.1354G>A (p.Ala452Thr)
|
rs886056652
|
|
NM_001386393.1(PANK2):c.1370T>A (p.Leu457Ter)
|
|
|
NM_001386393.1(PANK2):c.1383A>G (p.Ter461Trp)
|
|
|
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.176_177delinsCT (p.Ser59Thr)
|
rs1568550594
|
|
NM_001386393.1(PANK2):c.17G>C (p.Gly6Ala)
|
rs767712182
|
|
NM_001386393.1(PANK2):c.215C>A (p.Thr72Lys)
|
rs755932521
|
|
NM_001386393.1(PANK2):c.21_22delinsTT (p.Gln8Ter)
|
rs2146804492
|
|
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.236C>T (p.Ser79Phe)
|
|
|
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.298+3_298+6del
|
|
|
NM_001386393.1(PANK2):c.314G>A (p.Gly105Glu)
|
rs762879569
|
|
NM_001386393.1(PANK2):c.317T>A (p.Leu106Gln)
|
|
|
NM_001386393.1(PANK2):c.322A>C (p.Ile108Leu)
|
rs188211202
|
|
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.383A>G (p.Glu128Gly)
|
rs2090413830
|
|
NM_001386393.1(PANK2):c.393A>C (p.Glu131Asp)
|
|
|
NM_001386393.1(PANK2):c.394G>C (p.Val132Leu)
|
|
|
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.451A>G (p.Thr151Ala)
|
|
|
NM_001386393.1(PANK2):c.475G>A (p.Glu159Lys)
|
rs778263915
|
|
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.526C>G (p.Arg176Gly)
|
|
|
NM_001386393.1(PANK2):c.55C>G (p.Leu19Val)
|
rs772205776
|
|
NM_001386393.1(PANK2):c.566G>A (p.Gly189Asp)
|
rs975841680
|
|
NM_001386393.1(PANK2):c.632T>G (p.Phe211Cys)
|
|
|
NM_001386393.1(PANK2):c.651+3A>C
|
rs1131691472
|
|
NM_001386393.1(PANK2):c.651+3A>G
|
rs1131691472
|
|
NM_001386393.1(PANK2):c.652A>G (p.Ile218Val)
|
|
|
NM_001386393.1(PANK2):c.655G>T (p.Gly219Cys)
|
rs2146866714
|
|
NM_001386393.1(PANK2):c.67A>C (p.Met23Leu)
|
rs2146804825
|
|
NM_001386393.1(PANK2):c.695T>C (p.Leu232Ser)
|
|
|
NM_001386393.1(PANK2):c.706A>G (p.Ile236Val)
|
rs2090454168
|
|
NM_001386393.1(PANK2):c.710T>C (p.Leu237Ser)
|
|
|
NM_001386393.1(PANK2):c.717T>C (p.Ile239=)
|
rs1742717583
|
|
NM_001386393.1(PANK2):c.728G>A (p.Gly243Glu)
|
rs2146866985
|
|
NM_001386393.1(PANK2):c.731T>G (p.Phe244Cys)
|
|
|
NM_001386393.1(PANK2):c.73C>T (p.Arg25Cys)
|
|
|
NM_001386393.1(PANK2):c.752A>G (p.Tyr251Cys)
|
rs1568572918
|
|
NM_001386393.1(PANK2):c.766C>G (p.Pro256Ala)
|
rs777624606
|
|
NM_001386393.1(PANK2):c.769G>T (p.Ala257Ser)
|
rs1568572979
|
|
NM_001386393.1(PANK2):c.776C>G (p.Ser259Cys)
|
|
|
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.817T>C (p.Tyr273His)
|
|
|
NM_001386393.1(PANK2):c.838A>G (p.Ile280Val)
|
|
|
NM_001386393.1(PANK2):c.845C>T (p.Ser282Leu)
|
rs2090457090
|
|
NM_001386393.1(PANK2):c.854G>A (p.Ser285Asn)
|
rs2146867465
|
|
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.882T>G (p.Asn294Lys)
|
rs758080048
|
|
NM_001386393.1(PANK2):c.883T>G (p.Tyr295Asp)
|
rs1288629241
|
|
NM_001386393.1(PANK2):c.887A>T (p.Lys296Ile)
|
|
|
NM_001386393.1(PANK2):c.8G>T (p.Gly3Val)
|
rs1268207892
|
|
NM_001386393.1(PANK2):c.923T>G (p.Phe308Cys)
|
rs2146872412
|
|
NM_001386393.1(PANK2):c.932T>G (p.Leu311Arg)
|
rs2146872437
|
|
NM_001386393.1(PANK2):c.946A>G (p.Thr316Ala)
|
|
|
NM_001386393.1(PANK2):c.971C>A (p.Ala324Asp)
|
rs1031848408
|
|
NM_001386393.1(PANK2):c.989G>A (p.Arg330His)
|
|
|
NM_001940.4(ATN1):c.1604C>A (p.Ser535Tyr)
|
|
|
NM_020655.4(JPH3):c.955C>T (p.Arg319Trp)
|
rs148131421
|
|
NM_021083.4(XK):c.100C>G (p.Arg34Gly)
|
|
|
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.794A>G (p.Glu265Gly)
|
|
|
NM_021083.4(XK):c.85C>G (p.Arg29Gly)
|
|
|
NM_033305.2(VPS13A):c.-183G>A
|
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.*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.1155T>C (p.Ser385=)
|
rs774931205
|
|
NM_033305.3(VPS13A):c.1303T>C (p.Trp435Arg)
|
rs550188251
|
|
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.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.2136A>C (p.Gln712His)
|
rs1389344705
|
|
NM_033305.3(VPS13A):c.2175T>G (p.Asp725Glu)
|
rs1057515652
|
|
NM_033305.3(VPS13A):c.2475A>G (p.Ile825Met)
|
rs1826457641
|
|
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.2841A>G (p.Pro947=)
|
rs1826936558
|
|
NM_033305.3(VPS13A):c.2869A>G (p.Thr957Ala)
|
rs1248091059
|
|
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.3340-5_3340-3del
|
rs746510956
|
|
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.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.4765G>A (p.Gly1589Ser)
|
rs1829384544
|
|
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.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.6018G>A (p.Leu2006=)
|
rs201300715
|
|
NM_033305.3(VPS13A):c.6200G>A (p.Cys2067Tyr)
|
rs770789453
|
|
NM_033305.3(VPS13A):c.6297G>C (p.Trp2099Cys)
|
|
|
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.7044T>A (p.Pro2348=)
|
rs143259810
|
|
NM_033305.3(VPS13A):c.7155+14dup
|
rs747383490
|
|
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.7953G>C (p.Gln2651His)
|
rs774310423
|
|
NM_033305.3(VPS13A):c.811G>T (p.Asp271Tyr)
|
|
|
NM_033305.3(VPS13A):c.8472-11G>T
|
rs1281741862
|
|
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.9193A>G (p.Met3065Val)
|
rs1057515660
|
|
NM_033305.3(VPS13A):c.9326G>A (p.Trp3109Ter)
|
rs773932109
|
|
NM_033305.3(VPS13A):c.989+28del
|
rs751974264
|
|
NM_153638.4(PANK2):c.113C>A (p.Thr38Asn)
|
rs1426406978
|
|
NM_153638.4(PANK2):c.118C>T (p.Leu40Phe)
|
|
|
NM_153638.4(PANK2):c.126del (p.Arg44fs)
|
rs1600474748
|
|
NM_153638.4(PANK2):c.14G>A (p.Gly5Glu)
|
|
|
NM_153638.4(PANK2):c.160A>G (p.Thr54Ala)
|
rs2146803538
|
|
NM_153638.4(PANK2):c.172C>T (p.Pro58Ser)
|
|
|
NM_153638.4(PANK2):c.200A>C (p.Glu67Ala)
|
rs2146803693
|
|
NM_153638.4(PANK2):c.209G>C (p.Gly70Ala)
|
|
|
NM_153638.4(PANK2):c.272C>T (p.Pro91Leu)
|
rs757651957
|
|
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.31G>A (p.Val11Ile)
|
rs886044063
|
|
NM_153638.4(PANK2):c.38G>A (p.Trp13Ter)
|
|
|
NM_153638.4(PANK2):c.42_67del (p.Ala15fs)
|
rs760822872
|
|
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.9G>T (p.Arg3Ser)
|
rs1211425299
|
|