NM_017882.3(CLN6):c.199-252A>C
|
rs6494721
|
0.99323
|
NM_017882.2(CLN6):c.*1157A>G
|
rs8028241
|
0.58511
|
NM_017882.3(CLN6):c.198+104T>C
|
rs8025947
|
0.57324
|
NM_017882.3(CLN6):c.83+188T>C
|
rs55954678
|
0.56414
|
NM_017882.3(CLN6):c.*817C>T
|
rs8142
|
0.51081
|
NM_017882.3(CLN6):c.665+265G>A
|
rs11632516
|
0.46738
|
NM_017882.3(CLN6):c.*38A>G
|
rs757788122
|
0.18759
|
NM_017882.3(CLN6):c.*42T>G
|
rs754655363
|
0.14249
|
NC_000015.10:g.68229772A>G
|
rs541466473
|
0.12925
|
NM_017882.3(CLN6):c.*1015T>C
|
rs6494720
|
0.07280
|
NM_017882.3(CLN6):c.*690A>G
|
rs8033190
|
0.07262
|
NM_017882.3(CLN6):c.298-196A>G
|
rs61281446
|
0.07222
|
NM_017882.3(CLN6):c.298-248G>A
|
rs59951468
|
0.07221
|
NM_017882.3(CLN6):c.486+51C>T
|
rs8024979
|
0.07213
|
NM_017882.3(CLN6):c.83+35C>G
|
rs150630197
|
0.05957
|
NM_017882.3(CLN6):c.198+181A>G
|
rs59385667
|
0.03723
|
NM_017882.3(CLN6):c.297+158C>T
|
rs11638475
|
0.02178
|
NC_000015.10:g.68229762A>G
|
rs375902554
|
0.01863
|
NM_017882.3(CLN6):c.298-168C>T
|
rs56883694
|
0.01346
|
NM_017882.3(CLN6):c.486+8C>T
|
rs149692285
|
0.01339
|
NM_017882.3(CLN6):c.542+165C>T
|
rs17317039
|
0.01189
|
NM_017882.3(CLN6):c.543-303G>A
|
rs148243823
|
0.01154
|
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)
|
rs112239768
|
0.01081
|
NM_017882.3(CLN6):c.542+212C>T
|
rs111504155
|
0.00812
|
NM_017882.3(CLN6):c.*30T>G
|
rs758756489
|
0.00700
|
NM_017882.3(CLN6):c.84-81C>T
|
rs117298614
|
0.00698
|
NM_017882.3(CLN6):c.199-84C>T
|
rs7182333
|
0.00619
|
NM_017882.3(CLN6):c.*667G>A
|
rs111879561
|
0.00596
|
NM_017882.3(CLN6):c.*646C>G
|
rs144976448
|
0.00573
|
NM_017882.3(CLN6):c.298-6C>T
|
rs117038427
|
0.00549
|
NM_017882.3(CLN6):c.487-39C>T
|
rs116956347
|
0.00549
|
NM_017882.3(CLN6):c.*393G>A
|
rs114833125
|
0.00546
|
NM_017882.3(CLN6):c.83+218G>T
|
rs541105748
|
0.00509
|
NM_017882.3(CLN6):c.199-70G>A
|
rs114850355
|
0.00479
|
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly)
|
rs151295143
|
0.00475
|
NM_017882.3(CLN6):c.487-140G>A
|
rs74020079
|
0.00436
|
NM_017882.3(CLN6):c.*75G>C
|
rs57058289
|
0.00367
|
NM_017882.3(CLN6):c.542+33G>A
|
rs548821903
|
0.00342
|
NM_017882.3(CLN6):c.*934G>T
|
rs114551417
|
0.00341
|
NM_017882.3(CLN6):c.*655C>T
|
rs571329883
|
0.00316
|
NM_017882.3(CLN6):c.840G>A (p.Leu280=)
|
rs148949069
|
0.00198
|
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)
|
rs143578698
|
0.00169
|
NM_017882.3(CLN6):c.339G>A (p.Thr113=)
|
rs146135801
|
0.00141
|
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln)
|
rs104894483
|
0.00140
|
NM_017882.3(CLN6):c.53C>T (p.Ala18Val)
|
rs547125345
|
0.00120
|
NM_017882.3(CLN6):c.270C>T (p.Asn90=)
|
rs145247814
|
0.00104
|
NM_017882.3(CLN6):c.*1103G>A
|
rs147362516
|
0.00101
|
NM_017882.3(CLN6):c.*312C>T
|
rs747144655
|
0.00060
|
NM_017882.3(CLN6):c.487-15C>T
|
rs200775021
|
0.00049
|
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly)
|
rs3743088
|
0.00042
|
NM_017882.3(CLN6):c.*131G>T
|
rs556392570
|
0.00041
|
NM_017882.3(CLN6):c.822G>A (p.Ala274=)
|
rs151186473
|
0.00041
|
NM_017882.3(CLN6):c.*882C>T
|
rs766413849
|
0.00039
|
NM_017882.3(CLN6):c.-38C>T
|
rs756496671
|
0.00036
|
NM_017882.3(CLN6):c.42C>A (p.Gly14=)
|
rs373776911
|
0.00036
|
NM_017882.3(CLN6):c.-23G>A
|
rs536088577
|
0.00028
|
NM_017882.3(CLN6):c.*284C>T
|
rs536039114
|
0.00026
|
NM_017882.3(CLN6):c.100G>A (p.Ala34Thr)
|
rs146198681
|
0.00022
|
NM_017882.3(CLN6):c.84-18C>T
|
rs201554701
|
0.00022
|
NM_017882.3(CLN6):c.282C>A (p.Pro94=)
|
rs139261571
|
0.00021
|
NM_017882.3(CLN6):c.741C>T (p.His247=)
|
rs140653271
|
0.00020
|
NM_017882.3(CLN6):c.487-8T>C
|
rs202046680
|
0.00019
|
NM_017882.3(CLN6):c.-37C>T
|
rs1001908044
|
0.00015
|
NM_017882.3(CLN6):c.*246G>A
|
rs886051441
|
0.00013
|
NM_017882.3(CLN6):c.*69G>T
|
rs761969677
|
0.00013
|
NM_017882.3(CLN6):c.477G>A (p.Pro159=)
|
rs370811678
|
0.00013
|
NM_017882.3(CLN6):c.*1023G>A
|
rs760989550
|
0.00012
|
NM_017882.3(CLN6):c.*991C>A
|
rs537819492
|
0.00011
|
NM_017882.3(CLN6):c.41G>A (p.Gly14Asp)
|
rs994590268
|
0.00011
|
NM_017882.3(CLN6):c.585C>T (p.Gly195=)
|
rs144507672
|
0.00011
|
NM_017882.3(CLN6):c.-27C>A
|
rs1024665053
|
0.00010
|
NM_017882.3(CLN6):c.136G>A (p.Asp46Asn)
|
rs147623032
|
0.00010
|
NM_017882.3(CLN6):c.*1109G>A
|
rs560713030
|
0.00009
|
NM_017882.3(CLN6):c.298-15C>T
|
rs368661456
|
0.00009
|
NM_017882.3(CLN6):c.*470C>T
|
rs565006193
|
0.00008
|
NM_017882.3(CLN6):c.*481T>G
|
rs746416658
|
0.00008
|
NM_017882.3(CLN6):c.798C>T (p.Phe266=)
|
rs140319056
|
0.00008
|
NM_017882.3(CLN6):c.*175C>T
|
rs886051444
|
0.00007
|
NM_017882.3(CLN6):c.*179G>C
|
rs886051443
|
0.00006
|
NM_017882.3(CLN6):c.11C>T (p.Thr4Met)
|
rs1017662486
|
0.00006
|
NM_017882.3(CLN6):c.199-5C>T
|
rs371705916
|
0.00006
|
NM_017882.3(CLN6):c.213C>T (p.Leu71=)
|
rs146980624
|
0.00006
|
NM_017882.3(CLN6):c.271G>A (p.Val91Ile)
|
rs140519790
|
0.00006
|
NM_017882.3(CLN6):c.278C>T (p.Thr93Met)
|
rs150001589
|
0.00006
|
NM_017882.3(CLN6):c.297+113G>C
|
rs553192210
|
0.00006
|
NM_017882.3(CLN6):c.316C>T (p.Arg106Cys)
|
rs202226970
|
0.00006
|
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys)
|
rs747229909
|
0.00006
|
NM_017882.3(CLN6):c.597C>G (p.Ala199=)
|
rs368546281
|
0.00006
|
NM_017882.3(CLN6):c.637C>T (p.Leu213=)
|
rs750548623
|
0.00006
|
NM_017882.3(CLN6):c.666-45C>T
|
rs201306069
|
0.00006
|
NM_017882.3(CLN6):c.728C>T (p.Ala243Val)
|
rs767164948
|
0.00006
|
NM_017882.3(CLN6):c.799G>A (p.Ala267Thr)
|
rs374613712
|
0.00006
|
NM_017882.3(CLN6):c.15G>A (p.Arg5=)
|
rs1008565735
|
0.00005
|
NM_017882.3(CLN6):c.204A>G (p.Val68=)
|
rs774960579
|
0.00005
|
NM_017882.3(CLN6):c.279G>A (p.Thr93=)
|
rs746613593
|
0.00005
|
NM_017882.3(CLN6):c.678C>T (p.Thr226=)
|
rs374744816
|
0.00005
|
NM_017882.3(CLN6):c.72C>T (p.Phe24=)
|
rs767394326
|
0.00005
|
NM_017882.3(CLN6):c.749G>A (p.Arg250His)
|
rs554594996
|
0.00005
|
NM_017882.3(CLN6):c.832G>A (p.Ala278Thr)
|
rs143728911
|
0.00005
|
NM_017882.3(CLN6):c.-101A>G
|
rs555985698
|
0.00004
|
NM_017882.3(CLN6):c.103G>A (p.Asp35Asn)
|
rs533231370
|
0.00004
|
NM_017882.3(CLN6):c.259A>G (p.Met87Val)
|
rs532180601
|
0.00004
|
NM_017882.3(CLN6):c.328C>T (p.Arg110Cys)
|
rs143928329
|
0.00004
|
NM_017882.3(CLN6):c.487-13G>A
|
rs747926816
|
0.00004
|
NM_017882.3(CLN6):c.487-20C>T
|
rs772189210
|
0.00004
|
NM_017882.3(CLN6):c.564C>A (p.Ile188=)
|
rs371326037
|
0.00004
|
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu)
|
rs587780316
|
0.00004
|
NM_017882.3(CLN6):c.754C>T (p.Arg252Cys)
|
rs145746878
|
0.00004
|
NM_017882.3(CLN6):c.755G>A (p.Arg252His)
|
rs374681194
|
0.00004
|
NM_017882.3(CLN6):c.-92C>T
|
rs942971560
|
0.00003
|
NM_017882.3(CLN6):c.120G>A (p.Thr40=)
|
rs1034192926
|
0.00003
|
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp)
|
rs886285802
|
0.00003
|
NM_017882.3(CLN6):c.157C>T (p.Leu53=)
|
rs1172062931
|
0.00003
|
NM_017882.3(CLN6):c.329G>A (p.Arg110His)
|
rs140179213
|
0.00003
|
NM_017882.3(CLN6):c.338C>T (p.Thr113Met)
|
rs758830997
|
0.00003
|
NM_017882.3(CLN6):c.357C>G (p.Ile119Met)
|
rs141950483
|
0.00003
|
NM_017882.3(CLN6):c.36G>A (p.Ala12=)
|
rs1048000119
|
0.00003
|
NM_017882.3(CLN6):c.446G>A (p.Arg149His)
|
rs154774638
|
0.00003
|
NM_017882.3(CLN6):c.534C>T (p.His178=)
|
rs763901402
|
0.00003
|
NM_017882.3(CLN6):c.583G>A (p.Gly195Ser)
|
rs747575187
|
0.00003
|
NM_017882.3(CLN6):c.634C>T (p.Leu212Phe)
|
rs751562146
|
0.00003
|
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)
|
rs764571295
|
0.00003
|
NM_017882.3(CLN6):c.821C>T (p.Ala274Val)
|
rs202012876
|
0.00003
|
NM_017882.3(CLN6):c.831C>T (p.Val277=)
|
rs753344266
|
0.00003
|
NM_017882.3(CLN6):c.870C>T (p.Tyr290=)
|
rs774291260
|
0.00003
|
NM_017882.3(CLN6):c.872C>T (p.Pro291Leu)
|
rs373652272
|
0.00003
|
NM_017882.3(CLN6):c.924C>T (p.Ser308=)
|
rs774237925
|
0.00003
|
NM_017882.3(CLN6):c.*140_*143del
|
rs754855292
|
0.00002
|
NM_017882.3(CLN6):c.*725C>T
|
rs369225795
|
0.00002
|
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter)
|
rs154774640
|
0.00002
|
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln)
|
rs154774634
|
0.00002
|
NM_017882.3(CLN6):c.343G>A (p.Val115Met)
|
rs762232673
|
0.00002
|
NM_017882.3(CLN6):c.423C>T (p.Gly141=)
|
rs1484448524
|
0.00002
|
NM_017882.3(CLN6):c.43G>T (p.Gly15Cys)
|
rs1057524348
|
0.00002
|
NM_017882.3(CLN6):c.482C>T (p.Thr161Met)
|
rs757734645
|
0.00002
|
NM_017882.3(CLN6):c.489C>T (p.Ile163=)
|
rs748682605
|
0.00002
|
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser)
|
rs763944821
|
0.00002
|
NM_017882.3(CLN6):c.582C>T (p.Ser194=)
|
rs769007090
|
0.00002
|
NM_017882.3(CLN6):c.666-3C>T
|
rs761161043
|
0.00002
|
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser)
|
rs150363441
|
0.00002
|
NM_017882.3(CLN6):c.84-8C>T
|
rs756782429
|
0.00002
|
NM_017882.3(CLN6):c.84-9C>T
|
rs778471506
|
0.00002
|
NM_017882.3(CLN6):c.894G>A (p.Glu298=)
|
rs780421624
|
0.00002
|
NM_017882.3(CLN6):c.912C>T (p.Thr304=)
|
rs201330867
|
0.00002
|
NM_017882.3(CLN6):c.929G>A (p.Arg310Gln)
|
rs769900670
|
0.00002
|
NM_017882.3(CLN6):c.94G>C (p.Val32Leu)
|
rs369041224
|
0.00002
|
NM_017882.3(CLN6):c.99C>T (p.Ser33=)
|
rs752449801
|
0.00002
|
NM_017882.3(CLN6):c.*132C>T
|
rs886051445
|
0.00001
|
NM_017882.3(CLN6):c.*300C>T
|
rs886051439
|
0.00001
|
NM_017882.3(CLN6):c.*446C>T
|
rs1249079296
|
0.00001
|
NM_017882.3(CLN6):c.*532T>A
|
rs886051437
|
0.00001
|
NM_017882.3(CLN6):c.*749T>C
|
rs1189755650
|
0.00001
|
NM_017882.3(CLN6):c.-22C>A
|
rs886051448
|
0.00001
|
NM_017882.3(CLN6):c.114C>G (p.Ala38=)
|
rs1219136331
|
0.00001
|
NM_017882.3(CLN6):c.133C>T (p.Leu45Phe)
|
rs964241858
|
0.00001
|
NM_017882.3(CLN6):c.159G>A (p.Leu53=)
|
rs377148534
|
0.00001
|
NM_017882.3(CLN6):c.16A>C (p.Arg6=)
|
rs1468764503
|
0.00001
|
NM_017882.3(CLN6):c.180T>C (p.Phe60=)
|
rs1183583039
|
0.00001
|
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys)
|
rs1451777867
|
0.00001
|
NM_017882.3(CLN6):c.199-18C>A
|
rs764354435
|
0.00001
|
NM_017882.3(CLN6):c.199-2A>G
|
rs1471253353
|
0.00001
|
NM_017882.3(CLN6):c.199-4G>A
|
rs767945732
|
0.00001
|
NM_017882.3(CLN6):c.199C>G (p.Leu67Val)
|
rs759935979
|
0.00001
|
NM_017882.3(CLN6):c.205T>C (p.Phe69Leu)
|
rs1418418672
|
0.00001
|
NM_017882.3(CLN6):c.221T>G (p.Phe74Cys)
|
rs199658226
|
0.00001
|
NM_017882.3(CLN6):c.228C>T (p.Leu76=)
|
rs1306692606
|
0.00001
|
NM_017882.3(CLN6):c.240T>C (p.Ser80=)
|
rs1395492951
|
0.00001
|
NM_017882.3(CLN6):c.255C>G (p.Phe85Leu)
|
rs545955828
|
0.00001
|
NM_017882.3(CLN6):c.285T>A (p.Phe95Leu)
|
rs796052350
|
0.00001
|
NM_017882.3(CLN6):c.296A>G (p.Lys99Arg)
|
rs146782642
|
0.00001
|
NM_017882.3(CLN6):c.301A>G (p.Ile101Val)
|
rs774238261
|
0.00001
|
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys)
|
rs796052352
|
0.00001
|
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp)
|
rs201095412
|
0.00001
|
NM_017882.3(CLN6):c.311C>A (p.Ser104Tyr)
|
rs777921628
|
0.00001
|
NM_017882.3(CLN6):c.317G>A (p.Arg106His)
|
rs781133812
|
0.00001
|
NM_017882.3(CLN6):c.318C>T (p.Arg106=)
|
rs2093206613
|
0.00001
|
NM_017882.3(CLN6):c.322C>G (p.Leu108Val)
|
rs796052353
|
0.00001
|
NM_017882.3(CLN6):c.331T>C (p.Ser111Pro)
|
rs1217014085
|
0.00001
|
NM_017882.3(CLN6):c.340T>C (p.Tyr114His)
|
rs1211135399
|
0.00001
|
NM_017882.3(CLN6):c.345G>A (p.Val115=)
|
rs2093206410
|
0.00001
|
NM_017882.3(CLN6):c.346A>G (p.Ser116Gly)
|
rs2093206402
|
0.00001
|
NM_017882.3(CLN6):c.348C>T (p.Ser116=)
|
rs1231500700
|
0.00001
|
NM_017882.3(CLN6):c.350T>G (p.Ile117Ser)
|
rs752212030
|
0.00001
|
NM_017882.3(CLN6):c.355A>G (p.Ile119Val)
|
rs759241838
|
0.00001
|
NM_017882.3(CLN6):c.358T>A (p.Phe120Ile)
|
rs1433821186
|
0.00001
|
NM_017882.3(CLN6):c.396T>C (p.Ser132=)
|
rs949403836
|
0.00001
|
NM_017882.3(CLN6):c.407G>A (p.Arg136His)
|
rs769701646
|
0.00001
|
NM_017882.3(CLN6):c.409C>T (p.Leu137=)
|
rs982789458
|
0.00001
|
NM_017882.3(CLN6):c.486+1G>A
|
rs756522171
|
0.00001
|
NM_017882.3(CLN6):c.487-14C>T
|
rs371794062
|
0.00001
|
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys)
|
rs750081097
|
0.00001
|
NM_017882.3(CLN6):c.516T>C (p.Tyr172=)
|
rs547002745
|
0.00001
|
NM_017882.3(CLN6):c.51C>G (p.Gly17=)
|
rs944411833
|
0.00001
|
NM_017882.3(CLN6):c.522G>A (p.Glu174=)
|
rs753538013
|
0.00001
|
NM_017882.3(CLN6):c.543-10C>T
|
rs767297743
|
0.00001
|
NM_017882.3(CLN6):c.543-9C>T
|
rs374653673
|
0.00001
|
NM_017882.3(CLN6):c.547A>G (p.Ile183Val)
|
rs766500060
|
0.00001
|
NM_017882.3(CLN6):c.549C>T (p.Ile183=)
|
rs1384262878
|
0.00001
|
NM_017882.3(CLN6):c.558C>T (p.Phe186=)
|
rs1305810285
|
0.00001
|
NM_017882.3(CLN6):c.581G>T (p.Ser194Ile)
|
rs777142645
|
0.00001
|
NM_017882.3(CLN6):c.58C>T (p.Leu20=)
|
rs886042533
|
0.00001
|
NM_017882.3(CLN6):c.593C>G (p.Thr198Ser)
|
rs777459938
|
0.00001
|
NM_017882.3(CLN6):c.599C>G (p.Ser200Cys)
|
rs796052357
|
0.00001
|
NM_017882.3(CLN6):c.60G>A (p.Leu20=)
|
rs1287378775
|
0.00001
|
NM_017882.3(CLN6):c.61G>A (p.Gly21Ser)
|
rs916017530
|
0.00001
|
NM_017882.3(CLN6):c.63C>T (p.Gly21=)
|
rs796052348
|
0.00001
|
NM_017882.3(CLN6):c.663C>T (p.Tyr221=)
|
rs104894486
|
0.00001
|
NM_017882.3(CLN6):c.666-14C>T
|
rs764363598
|
0.00001
|
NM_017882.3(CLN6):c.666-5T>A
|
rs1401270931
|
0.00001
|
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys)
|
rs746753722
|
0.00001
|
NM_017882.3(CLN6):c.704T>A (p.Ile235Asn)
|
rs1469917052
|
0.00001
|
NM_017882.3(CLN6):c.714C>T (p.Phe238=)
|
rs772090270
|
0.00001
|
NM_017882.3(CLN6):c.718G>A (p.Ala240Thr)
|
rs779105796
|
0.00001
|
NM_017882.3(CLN6):c.732C>T (p.Leu244=)
|
rs540227628
|
0.00001
|
NM_017882.3(CLN6):c.748C>T (p.Arg250Cys)
|
rs950362413
|
0.00001
|
NM_017882.3(CLN6):c.750C>T (p.Arg250=)
|
rs537994561
|
0.00001
|
NM_017882.3(CLN6):c.757C>G (p.Leu253Val)
|
rs1274562752
|
0.00001
|
NM_017882.3(CLN6):c.763C>T (p.Leu255=)
|
rs1195840845
|
0.00001
|
NM_017882.3(CLN6):c.767A>G (p.Asp256Gly)
|
rs143781303
|
0.00001
|
NM_017882.3(CLN6):c.768C>G (p.Asp256Glu)
|
rs760271120
|
0.00001
|
NM_017882.3(CLN6):c.794C>T (p.Ser265Phe)
|
rs771007065
|
0.00001
|
NM_017882.3(CLN6):c.801A>G (p.Ala267=)
|
rs901756486
|
0.00001
|
NM_017882.3(CLN6):c.810C>G (p.Leu270=)
|
rs183399390
|
0.00001
|
NM_017882.3(CLN6):c.83+10C>T
|
rs1247368646
|
0.00001
|
NM_017882.3(CLN6):c.83+13C>T
|
rs938706029
|
0.00001
|
NM_017882.3(CLN6):c.837G>A (p.Trp279Ter)
|
rs1555438212
|
0.00001
|
NM_017882.3(CLN6):c.83G>A (p.Arg28Lys)
|
rs1381427322
|
0.00001
|
NM_017882.3(CLN6):c.84-1G>A
|
rs1064796787
|
0.00001
|
NM_017882.3(CLN6):c.850C>T (p.Pro284Ser)
|
rs369715206
|
0.00001
|
NM_017882.3(CLN6):c.885C>T (p.Tyr295=)
|
rs374990526
|
0.00001
|
NM_017882.3(CLN6):c.886G>A (p.Val296Ile)
|
rs781449103
|
0.00001
|
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu)
|
rs758921701
|
0.00001
|
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg)
|
rs750937323
|
0.00001
|
NM_017882.3(CLN6):c.90C>T (p.Gly30=)
|
rs1254460869
|
0.00001
|
NM_017882.3(CLN6):c.918C>T (p.His306=)
|
rs1347398610
|
0.00001
|
NM_017882.3(CLN6):c.93T>C (p.Ser31=)
|
rs376510900
|
0.00001
|
NC_000015.10:g.(?_68208120)_(68229604_?)del
|
|
|
NC_000015.10:g.(?_68229482)_(68229604_?)del
|
|
|
NC_000015.10:g.(?_68229492)_(68229594_?)del
|
|
|
NC_000015.10:g.68229774_68229793dup
|
rs71145145
|
|
NC_000015.9:g.(?_68499209)_(68500605_?)del
|
|
|
NC_000015.9:g.(?_68500458)_(68504221_?)del
|
|
|
NC_000015.9:g.(?_68500468)_(68504211_?)del
|
|
|
NC_000015.9:g.(?_68500478)_(68521922_?)dup
|
|
|
NC_000015.9:g.68504037_68504039delGAT
|
rs121908080
|
|
NM_017882.2(CLN6):c.-178_-169delTCCGCTCCGC
|
rs55672378
|
|
NM_017882.2(CLN6):c.[460_462delATC];[829_837delGTCGCCTGG]
|
|
|
NM_017882.3(CLN6):c.*141GT[11]
|
rs3837692
|
|
NM_017882.3(CLN6):c.*141GT[12]
|
rs3837692
|
|
NM_017882.3(CLN6):c.*141GT[13]
|
rs3837692
|
|
NM_017882.3(CLN6):c.*141GT[14]
|
rs3837692
|
|
NM_017882.3(CLN6):c.*141GT[8]
|
rs3837692
|
|
NM_017882.3(CLN6):c.*141GT[9]
|
rs3837692
|
|
NM_017882.3(CLN6):c.*224T>C
|
rs886051442
|
|
NM_017882.3(CLN6):c.*264T>C
|
rs886051440
|
|
NM_017882.3(CLN6):c.*345C>T
|
rs2093191394
|
|
NM_017882.3(CLN6):c.*526A>G
|
rs886051438
|
|
NM_017882.3(CLN6):c.*887G>T
|
rs886051436
|
|
NM_017882.3(CLN6):c.*88G>A
|
rs886051446
|
|
NM_017882.3(CLN6):c.-108G>C
|
rs865972073
|
|
NM_017882.3(CLN6):c.-29G>T
|
rs1057523327
|
|
NM_017882.3(CLN6):c.-34G>A
|
rs971420018
|
|
NM_017882.3(CLN6):c.-5C>T
|
rs796052347
|
|
NM_017882.3(CLN6):c.105T>C (p.Asp35=)
|
|
|
NM_017882.3(CLN6):c.108G>T (p.Glu36Asp)
|
rs1226528243
|
|
NM_017882.3(CLN6):c.112G>T (p.Ala38Ser)
|
|
|
NM_017882.3(CLN6):c.114C>T (p.Ala38=)
|
rs1219136331
|
|
NM_017882.3(CLN6):c.115C>G (p.Arg39Gly)
|
rs142260866
|
|
NM_017882.3(CLN6):c.115C>T (p.Arg39Cys)
|
rs142260866
|
|
NM_017882.3(CLN6):c.116G>A (p.Arg39His)
|
rs779456928
|
|
NM_017882.3(CLN6):c.117C>A (p.Arg39=)
|
|
|
NM_017882.3(CLN6):c.119C>A (p.Thr40Lys)
|
rs769199442
|
|
NM_017882.3(CLN6):c.119C>T (p.Thr40Met)
|
rs769199442
|
|
NM_017882.3(CLN6):c.121del (p.Ala41fs)
|
rs2141145116
|
|
NM_017882.3(CLN6):c.123T>A (p.Ala41=)
|
rs2141145111
|
|
NM_017882.3(CLN6):c.124C>G (p.Pro42Ala)
|
rs1003606439
|
|
NM_017882.3(CLN6):c.124C>T (p.Pro42Ser)
|
rs1003606439
|
|
NM_017882.3(CLN6):c.12G>A (p.Thr4=)
|
|
|
NM_017882.3(CLN6):c.132C>T (p.His44=)
|
|
|
NM_017882.3(CLN6):c.135C>A (p.Leu45=)
|
|
|
NM_017882.3(CLN6):c.135C>T (p.Leu45=)
|
rs374577694
|
|
NM_017882.3(CLN6):c.138C>T (p.Asp46=)
|
rs1595821372
|
|
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe)
|
rs154774635
|
|
NM_017882.3(CLN6):c.13C>A (p.Arg5=)
|
rs886285802
|
|
NM_017882.3(CLN6):c.141C>T (p.Leu47=)
|
|
|
NM_017882.3(CLN6):c.142T>A (p.Trp48Arg)
|
|
|
NM_017882.3(CLN6):c.144G>A (p.Trp48Ter)
|
rs2141145074
|
|
NM_017882.3(CLN6):c.146T>A (p.Phe49Tyr)
|
|
|
NM_017882.3(CLN6):c.149_150insATCCT (p.Tyr50Ter)
|
rs2141145071
|
|
NM_017882.3(CLN6):c.14G>A (p.Arg5Gln)
|
rs2093262797
|
|
NM_017882.3(CLN6):c.158T>G (p.Leu53Arg)
|
|
|
NM_017882.3(CLN6):c.161A>G (p.Gln54Arg)
|
rs2093226926
|
|
NM_017882.3(CLN6):c.163A>T (p.Asn55Tyr)
|
|
|
NM_017882.3(CLN6):c.167G>A (p.Trp56Ter)
|
rs1057520571
|
|
NM_017882.3(CLN6):c.168G>A (p.Trp56Ter)
|
|
|
NM_017882.3(CLN6):c.17G>C (p.Arg6Thr)
|
rs154774636
|
|
NM_017882.3(CLN6):c.180_181del (p.Phe60fs)
|
|
|
NM_017882.3(CLN6):c.180dup (p.Gly61fs)
|
|
|
NM_017882.3(CLN6):c.183del (p.Arg62fs)
|
|
|
NM_017882.3(CLN6):c.185G>A (p.Arg62His)
|
rs751486476
|
|
NM_017882.3(CLN6):c.190A>G (p.Ile64Val)
|
|
|
NM_017882.3(CLN6):c.195C>A (p.Ala65=)
|
|
|
NM_017882.3(CLN6):c.195C>T (p.Ala65=)
|
rs1472031434
|
|
NM_017882.3(CLN6):c.195dup (p.Met66fs)
|
|
|
NM_017882.3(CLN6):c.196A>G (p.Met66Val)
|
rs1430705796
|
|
NM_017882.3(CLN6):c.196dup (p.Met66fs)
|
rs2141145023
|
|
NM_017882.3(CLN6):c.198+11A>C
|
|
|
NM_017882.3(CLN6):c.198+12A>G
|
|
|
NM_017882.3(CLN6):c.198+17G>A
|
|
|
NM_017882.3(CLN6):c.198+19A>C
|
|
|
NM_017882.3(CLN6):c.198+1G>A
|
rs886039727
|
|
NM_017882.3(CLN6):c.198+20C>T
|
|
|
NM_017882.3(CLN6):c.198+3G>C
|
|
|
NM_017882.3(CLN6):c.198+5G>A
|
|
|
NM_017882.3(CLN6):c.199-12T>C
|
|
|
NM_017882.3(CLN6):c.199-12T>G
|
|
|
NM_017882.3(CLN6):c.199-13A>G
|
|
|
NM_017882.3(CLN6):c.199-14C>A
|
|
|
NM_017882.3(CLN6):c.199-14C>T
|
|
|
NM_017882.3(CLN6):c.199-14del
|
|
|
NM_017882.3(CLN6):c.199-16T>A
|
|
|
NM_017882.3(CLN6):c.199-19dup
|
rs1567096664
|
|
NM_017882.3(CLN6):c.199-6C>G
|
|
|
NM_017882.3(CLN6):c.199-6C>T
|
|
|
NM_017882.3(CLN6):c.199-7T>C
|
|
|
NM_017882.3(CLN6):c.1A>C (p.Met1Leu)
|
|
|
NM_017882.3(CLN6):c.1A>G (p.Met1Val)
|
rs1555440206
|
|
NM_017882.3(CLN6):c.1_11del (p.Met1fs)
|
|
|
NM_017882.3(CLN6):c.200T>C (p.Leu67Pro)
|
rs154774633
|
|
NM_017882.3(CLN6):c.202G>C (p.Val68Leu)
|
|
|
NM_017882.3(CLN6):c.204A>T (p.Val68=)
|
|
|
NM_017882.3(CLN6):c.207C>T (p.Phe69=)
|
rs2093214789
|
|
NM_017882.3(CLN6):c.212T>G (p.Leu71Arg)
|
rs1450871754
|
|
NM_017882.3(CLN6):c.213C>A (p.Leu71=)
|
rs146980624
|
|
NM_017882.3(CLN6):c.213C>G (p.Leu71=)
|
rs146980624
|
|
NM_017882.3(CLN6):c.214G>A (p.Glu72Lys)
|
rs104894483
|
|
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter)
|
rs104894483
|
|
NM_017882.3(CLN6):c.216G>A (p.Glu72=)
|
|
|
NM_017882.3(CLN6):c.218G>A (p.Trp73Ter)
|
rs2093214695
|
|
NM_017882.3(CLN6):c.218_220dup (p.Trp73dup)
|
rs2141141533
|
|
NM_017882.3(CLN6):c.219G>A (p.Trp73Ter)
|
|
|
NM_017882.3(CLN6):c.21G>A (p.Arg7=)
|
rs2093262736
|
|
NM_017882.3(CLN6):c.224C>T (p.Pro75Leu)
|
rs1595819607
|
|
NM_017882.3(CLN6):c.224del (p.Pro75fs)
|
rs2141141525
|
|
NM_017882.3(CLN6):c.225A>C (p.Pro75=)
|
|
|
NM_017882.3(CLN6):c.225A>G (p.Pro75=)
|
rs544291935
|
|
NM_017882.3(CLN6):c.230A>C (p.Asn77Thr)
|
rs776974644
|
|
NM_017882.3(CLN6):c.231C>G (p.Asn77Lys)
|
rs154774641
|
|
NM_017882.3(CLN6):c.247dup (p.Asp83fs)
|
|
|
NM_017882.3(CLN6):c.24G>A (p.Gln8=)
|
|
|
NM_017882.3(CLN6):c.250T>A (p.Tyr84Asn)
|
rs1567096598
|
|
NM_017882.3(CLN6):c.252C>T (p.Tyr84=)
|
rs2141141480
|
|
NM_017882.3(CLN6):c.255C>T (p.Phe85=)
|
|
|
NM_017882.3(CLN6):c.266_267insAATCCTA (p.Tyr89Ter)
|
|
|
NM_017882.3(CLN6):c.268A>G (p.Asn90Asp)
|
rs2093214490
|
|
NM_017882.3(CLN6):c.268_271dup (p.Val91fs)
|
rs786205067
|
|
NM_017882.3(CLN6):c.269A>T (p.Asn90Ile)
|
rs2141141464
|
|
NM_017882.3(CLN6):c.270C>A (p.Asn90Lys)
|
|
|
NM_017882.3(CLN6):c.276C>G (p.Ile92Met)
|
|
|
NM_017882.3(CLN6):c.278C>A (p.Thr93Lys)
|
|
|
NM_017882.3(CLN6):c.27C>T (p.His9=)
|
rs2141156267
|
|
NM_017882.3(CLN6):c.284T>C (p.Phe95Ser)
|
|
|
NM_017882.3(CLN6):c.288C>G (p.Leu96=)
|
rs2141141422
|
|
NM_017882.3(CLN6):c.288C>T (p.Leu96=)
|
|
|
NM_017882.3(CLN6):c.289_290dup (p.Leu97fs)
|
rs2141141420
|
|
NM_017882.3(CLN6):c.28C>G (p.Leu10Val)
|
rs1457277891
|
|
NM_017882.3(CLN6):c.28C>T (p.Leu10=)
|
rs1457277891
|
|
NM_017882.3(CLN6):c.291G>A (p.Leu97=)
|
|
|
NM_017882.3(CLN6):c.294C>G (p.Leu98=)
|
rs2141141419
|
|
NM_017882.3(CLN6):c.297+17C>T
|
|
|
NM_017882.3(CLN6):c.297+18C>G
|
|
|
NM_017882.3(CLN6):c.297+19del
|
rs61224699
|
|
NM_017882.3(CLN6):c.297+1G>A
|
rs796052351
|
|
NM_017882.3(CLN6):c.297+4C>T
|
rs1030759897
|
|
NM_017882.3(CLN6):c.297+9C>T
|
rs1258135795
|
|
NM_017882.3(CLN6):c.297G>C (p.Lys99Asn)
|
|
|
NM_017882.3(CLN6):c.297G>T (p.Lys99Asn)
|
|
|
NM_017882.3(CLN6):c.298-13C>T
|
|
|
NM_017882.3(CLN6):c.298-14A>T
|
|
|
NM_017882.3(CLN6):c.298-16C>A
|
|
|
NM_017882.3(CLN6):c.298-17C>G
|
|
|
NM_017882.3(CLN6):c.298-1G>C
|
rs1595818391
|
|
NM_017882.3(CLN6):c.298-20A>C
|
|
|
NM_017882.3(CLN6):c.298-346G>T
|
|
|
NM_017882.3(CLN6):c.298-3del
|
rs1567095944
|
|
NM_017882.3(CLN6):c.298-8A>T
|
rs2141139490
|
|
NM_017882.3(CLN6):c.299T>G (p.Leu100Arg)
|
rs1555438702
|
|
NM_017882.3(CLN6):c.300C>T (p.Leu100=)
|
|
|
NM_017882.3(CLN6):c.303C>T (p.Ile101=)
|
rs1369226101
|
|
NM_017882.3(CLN6):c.309G>A (p.Arg103=)
|
|
|
NM_017882.3(CLN6):c.309G>T (p.Arg103=)
|
rs2141139457
|
|
NM_017882.3(CLN6):c.310T>C (p.Ser104Pro)
|
|
|
NM_017882.3(CLN6):c.311C>T (p.Ser104Phe)
|
rs777921628
|
|
NM_017882.3(CLN6):c.314C>T (p.Pro105Leu)
|
rs769747737
|
|
NM_017882.3(CLN6):c.316C>G (p.Arg106Gly)
|
|
|
NM_017882.3(CLN6):c.316dup (p.Arg106fs)
|
rs397515352
|
|
NM_017882.3(CLN6):c.321C>T (p.Thr107=)
|
rs755184214
|
|
NM_017882.3(CLN6):c.322del (p.Leu108fs)
|
|
|
NM_017882.3(CLN6):c.324G>T (p.Leu108=)
|
rs2093206574
|
|
NM_017882.3(CLN6):c.325C>T (p.Pro109Ser)
|
rs1555438696
|
|
NM_017882.3(CLN6):c.329G>T (p.Arg110Leu)
|
rs140179213
|
|
NM_017882.3(CLN6):c.32G>C (p.Gly11Ala)
|
rs2093262694
|
|
NM_017882.3(CLN6):c.330C>T (p.Arg110=)
|
|
|
NM_017882.3(CLN6):c.333C>T (p.Ser111=)
|
rs995775001
|
|
NM_017882.3(CLN6):c.33A>G (p.Gly11=)
|
rs2141156259
|
|
NM_017882.3(CLN6):c.342C>A (p.Tyr114Ter)
|
|
|
NM_017882.3(CLN6):c.342C>T (p.Tyr114=)
|
rs765719755
|
|
NM_017882.3(CLN6):c.349ATC[2] (p.Ile119del)
|
rs886051447
|
|
NM_017882.3(CLN6):c.351C>T (p.Ile117=)
|
|
|
NM_017882.3(CLN6):c.354C>T (p.Ile118=)
|
rs1555438691
|
|
NM_017882.3(CLN6):c.358_366del (p.Phe120_Met122del)
|
rs1401381423
|
|
NM_017882.3(CLN6):c.360C>A (p.Phe120Leu)
|
rs1362402324
|
|
NM_017882.3(CLN6):c.363C>G (p.Ile121Met)
|
rs148547876
|
|
NM_017882.3(CLN6):c.363C>T (p.Ile121=)
|
|
|
NM_017882.3(CLN6):c.364A>G (p.Met122Val)
|
|
|
NM_017882.3(CLN6):c.365T>C (p.Met122Thr)
|
rs2093206265
|
|
NM_017882.3(CLN6):c.366G>C (p.Met122Ile)
|
|
|
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp)
|
rs104894484
|
|
NM_017882.3(CLN6):c.371C>T (p.Ala124Val)
|
rs1567095879
|
|
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly)
|
rs772893554
|
|
NM_017882.3(CLN6):c.375C>T (p.Ser125=)
|
rs2093206218
|
|
NM_017882.3(CLN6):c.377T>C (p.Ile126Thr)
|
rs2141139324
|
|
NM_017882.3(CLN6):c.377_378delinsG (p.Ile126fs)
|
|
|
NM_017882.3(CLN6):c.384G>A (p.Leu128=)
|
|
|
NM_017882.3(CLN6):c.385dup (p.Val129fs)
|
|
|
NM_017882.3(CLN6):c.388G>A (p.Gly130Ser)
|
|
|
NM_017882.3(CLN6):c.395_396del (p.Ser132fs)
|
rs774543080
|
|
NM_017882.3(CLN6):c.396T>G (p.Ser132=)
|
rs949403836
|
|
NM_017882.3(CLN6):c.396dup (p.Val133fs)
|
rs2141139300
|
|
NM_017882.3(CLN6):c.397_398del (p.Val133fs)
|
rs766493088
|
|
NM_017882.3(CLN6):c.39G>C (p.Thr13=)
|
|
|
NM_017882.3(CLN6):c.3G>A (p.Met1Ile)
|
rs2093262869
|
|
NM_017882.3(CLN6):c.400A>C (p.Asn134His)
|
|
|
NM_017882.3(CLN6):c.401A>G (p.Asn134Ser)
|
|
|
NM_017882.3(CLN6):c.403C>G (p.His135Asp)
|
|
|
NM_017882.3(CLN6):c.405C>T (p.His135=)
|
|
|
NM_017882.3(CLN6):c.406C>T (p.Arg136Cys)
|
rs1012449574
|
|
NM_017882.3(CLN6):c.407del (p.Arg136fs)
|
|
|
NM_017882.3(CLN6):c.40G>A (p.Gly14Ser)
|
rs2093262651
|
|
NM_017882.3(CLN6):c.410T>A (p.Leu137Gln)
|
|
|
NM_017882.3(CLN6):c.411G>A (p.Leu137=)
|
rs748062705
|
|
NM_017882.3(CLN6):c.412C>T (p.Leu138Phe)
|
|
|
NM_017882.3(CLN6):c.414C>G (p.Leu138=)
|
|
|
NM_017882.3(CLN6):c.414C>T (p.Leu138=)
|
rs2093206040
|
|
NM_017882.3(CLN6):c.424dup (p.Tyr142fs)
|
|
|
NM_017882.3(CLN6):c.425A>G (p.Tyr142Cys)
|
rs1227254537
|
|
NM_017882.3(CLN6):c.426C>G (p.Tyr142Ter)
|
|
|
NM_017882.3(CLN6):c.426C>T (p.Tyr142=)
|
rs768766915
|
|
NM_017882.3(CLN6):c.427C>T (p.Gln143Ter)
|
rs2093205953
|
|
NM_017882.3(CLN6):c.429G>A (p.Gln143=)
|
|
|
NM_017882.3(CLN6):c.431A>G (p.His144Arg)
|
rs1595818258
|
|
NM_017882.3(CLN6):c.437T>C (p.Leu146Pro)
|
rs1595818249
|
|
NM_017882.3(CLN6):c.441T>G (p.Ser147=)
|
rs1595818241
|
|
NM_017882.3(CLN6):c.443T>A (p.Val148Asp)
|
rs1555438678
|
|
NM_017882.3(CLN6):c.444C>G (p.Val148=)
|
rs2141139200
|
|
NM_017882.3(CLN6):c.444C>T (p.Val148=)
|
|
|
NM_017882.3(CLN6):c.446G>C (p.Arg149Pro)
|
rs154774638
|
|
NM_017882.3(CLN6):c.455C>G (p.Pro152Arg)
|
rs2141139183
|
|
NM_017882.3(CLN6):c.456C>A (p.Pro152=)
|
rs2141139176
|
|
NM_017882.3(CLN6):c.456del (p.Ile153fs)
|
|
|
NM_017882.3(CLN6):c.45C>T (p.Gly15=)
|
|
|
NM_017882.3(CLN6):c.462C>T (p.Ile154=)
|
rs2141139170
|
|
NM_017882.3(CLN6):c.465G>A (p.Lys155=)
|
|
|
NM_017882.3(CLN6):c.469C>A (p.Leu157Ile)
|
rs2093205792
|
|
NM_017882.3(CLN6):c.471C>G (p.Leu157=)
|
|
|
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu)
|
rs919850756
|
|
NM_017882.3(CLN6):c.483G>A (p.Thr161=)
|
rs2141139146
|
|
NM_017882.3(CLN6):c.483G>T (p.Thr161=)
|
rs2141139146
|
|
NM_017882.3(CLN6):c.486+11C>A
|
|
|
NM_017882.3(CLN6):c.486+11C>T
|
|
|
NM_017882.3(CLN6):c.486+12T>G
|
|
|
NM_017882.3(CLN6):c.486+13C>T
|
|
|
NM_017882.3(CLN6):c.486+15dup
|
|
|
NM_017882.3(CLN6):c.486+16G>A
|
|
|
NM_017882.3(CLN6):c.486+16dup
|
|
|
NM_017882.3(CLN6):c.486+17C>A
|
|
|
NM_017882.3(CLN6):c.486+19C>G
|
|
|
NM_017882.3(CLN6):c.486+1G>C
|
rs756522171
|
|
NM_017882.3(CLN6):c.486+2T>C
|
rs796052355
|
|
NM_017882.3(CLN6):c.486+7C>G
|
rs1481891129
|
|
NM_017882.3(CLN6):c.486+8C>A
|
rs149692285
|
|
NM_017882.3(CLN6):c.487-10C>G
|
|
|
NM_017882.3(CLN6):c.487-10C>T
|
rs778284215
|
|
NM_017882.3(CLN6):c.487-12T>A
|
rs571940397
|
|
NM_017882.3(CLN6):c.487-19C>T
|
rs2141138841
|
|
NM_017882.3(CLN6):c.487-1G>T
|
|
|
NM_017882.3(CLN6):c.487-3C>G
|
rs1468531022
|
|
NM_017882.3(CLN6):c.487-5C>A
|
|
|
NM_017882.3(CLN6):c.487-7C>A
|
|
|
NM_017882.3(CLN6):c.487-7C>G
|
rs2141138813
|
|
NM_017882.3(CLN6):c.487-7C>T
|
rs2141138813
|
|
NM_017882.3(CLN6):c.487-9C>G
|
|
|
NM_017882.3(CLN6):c.48A>C (p.Pro16=)
|
|
|
NM_017882.3(CLN6):c.490G>A (p.Asp164Asn)
|
rs779685727
|
|
NM_017882.3(CLN6):c.493T>C (p.Ser165Pro)
|
|
|
NM_017882.3(CLN6):c.494C>T (p.Ser165Phe)
|
rs1595818025
|
|
NM_017882.3(CLN6):c.495C>T (p.Ser165=)
|
|
|
NM_017882.3(CLN6):c.497T>C (p.Phe166Ser)
|
rs2093204354
|
|
NM_017882.3(CLN6):c.498dup (p.Glu167Ter)
|
rs762902907
|
|
NM_017882.3(CLN6):c.499G>T (p.Glu167Ter)
|
rs2093204342
|
|
NM_017882.3(CLN6):c.4G>A (p.Glu2Lys)
|
rs796052360
|
|
NM_017882.3(CLN6):c.501G>A (p.Glu167=)
|
|
|
NM_017882.3(CLN6):c.502C>T (p.Leu168=)
|
rs2141138776
|
|
NM_017882.3(CLN6):c.504G>A (p.Leu168=)
|
|
|
NM_017882.3(CLN6):c.506T>A (p.Leu169His)
|
rs1344658850
|
|
NM_017882.3(CLN6):c.506T>C (p.Leu169Pro)
|
rs1344658850
|
|
NM_017882.3(CLN6):c.507C>T (p.Leu169=)
|
rs1273285939
|
|
NM_017882.3(CLN6):c.507CTA[1] (p.Tyr172del)
|
|
|
NM_017882.3(CLN6):c.510C>A (p.Tyr170Ter)
|
|
|
NM_017882.3(CLN6):c.511TAT[1] (p.Tyr172del)
|
rs121908079
|
|
NM_017882.3(CLN6):c.514T>C (p.Tyr172His)
|
rs2141138753
|
|
NM_017882.3(CLN6):c.516TGA[1] (p.Asp173del)
|
rs916824303
|
|
NM_017882.3(CLN6):c.519T>C (p.Asp173=)
|
rs756942559
|
|
NM_017882.3(CLN6):c.525C>T (p.Tyr175=)
|
|
|
NM_017882.3(CLN6):c.526C>T (p.Leu176=)
|
rs2141138733
|
|
NM_017882.3(CLN6):c.528G>A (p.Leu176=)
|
rs2141138731
|
|
NM_017882.3(CLN6):c.528G>C (p.Leu176=)
|
rs2141138731
|
|
NM_017882.3(CLN6):c.542+11G>A
|
|
|
NM_017882.3(CLN6):c.542+12G>T
|
|
|
NM_017882.3(CLN6):c.542+13C>G
|
|
|
NM_017882.3(CLN6):c.542+13C>T
|
|
|
NM_017882.3(CLN6):c.542+14C>T
|
|
|
NM_017882.3(CLN6):c.542+15del
|
|
|
NM_017882.3(CLN6):c.542+16A>T
|
|
|
NM_017882.3(CLN6):c.542+1G>T
|
rs1555438614
|
|
NM_017882.3(CLN6):c.542+20G>A
|
|
|
NM_017882.3(CLN6):c.542+2T>C
|
|
|
NM_017882.3(CLN6):c.542+5G>T
|
rs786205066
|
|
NM_017882.3(CLN6):c.542+8A>G
|
rs1555438612
|
|
NM_017882.3(CLN6):c.542G>A (p.Trp181Ter)
|
rs1380684360
|
|
NM_017882.3(CLN6):c.543-10C>A
|
rs767297743
|
|
NM_017882.3(CLN6):c.543-13C>G
|
|
|
NM_017882.3(CLN6):c.543-17T>C
|
|
|
NM_017882.3(CLN6):c.543-19A>G
|
|
|
NM_017882.3(CLN6):c.543-2A>G
|
rs2141137336
|
|
NM_017882.3(CLN6):c.543-8T>C
|
|
|
NM_017882.3(CLN6):c.543G>A (p.Trp181Ter)
|
rs1555438443
|
|
NM_017882.3(CLN6):c.546C>T (p.Tyr182=)
|
rs751550252
|
|
NM_017882.3(CLN6):c.546del (p.Trp181_Tyr182insTer)
|
|
|
NM_017882.3(CLN6):c.54G>A (p.Ala18=)
|
rs1199248099
|
|
NM_017882.3(CLN6):c.551C>T (p.Pro184Leu)
|
|
|
NM_017882.3(CLN6):c.552C>T (p.Pro184=)
|
rs1595817219
|
|
NM_017882.3(CLN6):c.552dup (p.Phe185fs)
|
rs1567095153
|
|
NM_017882.3(CLN6):c.553T>G (p.Phe185Val)
|
rs2093199272
|
|
NM_017882.3(CLN6):c.553TTC[1] (p.Phe186del)
|
rs2141137304
|
|
NM_017882.3(CLN6):c.555C>T (p.Phe185=)
|
rs1595817218
|
|
NM_017882.3(CLN6):c.559C>T (p.Leu187Phe)
|
rs764670832
|
|
NM_017882.3(CLN6):c.563T>C (p.Ile188Thr)
|
rs763059017
|
|
NM_017882.3(CLN6):c.564C>T (p.Ile188=)
|
rs371326037
|
|
NM_017882.3(CLN6):c.565C>T (p.Leu189Phe)
|
|
|
NM_017882.3(CLN6):c.567C>T (p.Leu189=)
|
rs762214934
|
|
NM_017882.3(CLN6):c.570_572del (p.Phe190_Met191delinsLeu)
|
|
|
NM_017882.3(CLN6):c.571A>G (p.Met191Val)
|
rs1555438435
|
|
NM_017882.3(CLN6):c.57G>C (p.Gln19His)
|
rs2093262571
|
|
NM_017882.3(CLN6):c.583_596del (p.Gly195fs)
|
rs2093199030
|
|
NM_017882.3(CLN6):c.587G>T (p.Cys196Phe)
|
rs2093199089
|
|
NM_017882.3(CLN6):c.588C>T (p.Cys196=)
|
rs770515770
|
|
NM_017882.3(CLN6):c.597C>A (p.Ala199=)
|
|
|
NM_017882.3(CLN6):c.601A>T (p.Lys201Ter)
|
|
|
NM_017882.3(CLN6):c.602A>C (p.Lys201Thr)
|
rs2141137255
|
|
NM_017882.3(CLN6):c.606T>C (p.Ala202=)
|
|
|
NM_017882.3(CLN6):c.609G>A (p.Glu203=)
|
rs1026588122
|
|
NM_017882.3(CLN6):c.60G>C (p.Leu20=)
|
|
|
NM_017882.3(CLN6):c.613T>C (p.Leu205=)
|
|
|
NM_017882.3(CLN6):c.617T>C (p.Ile206Thr)
|
rs2141137247
|
|
NM_017882.3(CLN6):c.61_62insCGG (p.Leu20_Gly21insAla)
|
rs878855040
|
|
NM_017882.3(CLN6):c.622G>C (p.Gly208Arg)
|
rs2141137242
|
|
NM_017882.3(CLN6):c.623G>A (p.Gly208Glu)
|
rs2141137239
|
|
NM_017882.3(CLN6):c.624G>A (p.Gly208=)
|
|
|
NM_017882.3(CLN6):c.625C>T (p.Pro209Ser)
|
rs1064794559
|
|
NM_017882.3(CLN6):c.62G>T (p.Gly21Val)
|
rs886042709
|
|
NM_017882.3(CLN6):c.631C>T (p.Leu211=)
|
|
|
NM_017882.3(CLN6):c.633G>T (p.Leu211=)
|
|
|
NM_017882.3(CLN6):c.636C>T (p.Leu212=)
|
rs758612277
|
|
NM_017882.3(CLN6):c.640G>A (p.Val214Met)
|
|
|
NM_017882.3(CLN6):c.640G>T (p.Val214Leu)
|
rs765491294
|
|
NM_017882.3(CLN6):c.642G>A (p.Val214=)
|
|
|
NM_017882.3(CLN6):c.649A>G (p.Ser217Gly)
|
rs1567095087
|
|
NM_017882.3(CLN6):c.64G>A (p.Ala22Thr)
|
rs527373013
|
|
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser)
|
rs527373013
|
|
NM_017882.3(CLN6):c.653G>A (p.Gly218Asp)
|
rs1160988895
|
|
NM_017882.3(CLN6):c.653G>T (p.Gly218Val)
|
rs1160988895
|
|
NM_017882.3(CLN6):c.655C>T (p.Leu219=)
|
|
|
NM_017882.3(CLN6):c.655del (p.Leu219fs)
|
rs2141137200
|
|
NM_017882.3(CLN6):c.657G>A (p.Leu219=)
|
rs1363322956
|
|
NM_017882.3(CLN6):c.658_665del (p.Tyr220fs)
|
|
|
NM_017882.3(CLN6):c.659A>C (p.Tyr220Ser)
|
rs2093198812
|
|
NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys)
|
rs764571295
|
|
NM_017882.3(CLN6):c.663C>G (p.Tyr221Ter)
|
rs104894486
|
|
NM_017882.3(CLN6):c.665+10C>T
|
rs1254894871
|
|
NM_017882.3(CLN6):c.665+11A>T
|
|
|
NM_017882.3(CLN6):c.665+12T>A
|
|
|
NM_017882.3(CLN6):c.665+14A>T
|
|
|
NM_017882.3(CLN6):c.665+18T>C
|
|
|
NM_017882.3(CLN6):c.665+18T>G
|
|
|
NM_017882.3(CLN6):c.665+19G>A
|
|
|
NM_017882.3(CLN6):c.665+1G>A
|
rs796052356
|
|
NM_017882.3(CLN6):c.665+1G>T
|
rs796052356
|
|
NM_017882.3(CLN6):c.665+7G>A
|
|
|
NM_017882.3(CLN6):c.665G>A (p.Trp222Ter)
|
rs1555438411
|
|
NM_017882.3(CLN6):c.666-12T>C
|
|
|
NM_017882.3(CLN6):c.666-15C>T
|
|
|
NM_017882.3(CLN6):c.666-16C>T
|
rs2141136181
|
|
NM_017882.3(CLN6):c.666-19_666-16del
|
|
|
NM_017882.3(CLN6):c.666-20C>T
|
rs754129486
|
|
NM_017882.3(CLN6):c.666-4C>T
|
rs2141136177
|
|
NM_017882.3(CLN6):c.666-5T>C
|
|
|
NM_017882.3(CLN6):c.666-5T>G
|
|
|
NM_017882.3(CLN6):c.666-9C>T
|
|
|
NM_017882.3(CLN6):c.667T>C (p.Tyr223His)
|
rs2093194324
|
|
NM_017882.3(CLN6):c.669C>G (p.Tyr223Ter)
|
rs374271754
|
|
NM_017882.3(CLN6):c.669C>T (p.Tyr223=)
|
|
|
NM_017882.3(CLN6):c.66C>T (p.Ala22=)
|
rs796052349
|
|
NM_017882.3(CLN6):c.66del (p.Ser23fs)
|
rs2093262507
|
|
NM_017882.3(CLN6):c.670C>T (p.Leu224=)
|
|
|
NM_017882.3(CLN6):c.672G>T (p.Leu224=)
|
|
|
NM_017882.3(CLN6):c.675C>A (p.Val225=)
|
|
|
NM_017882.3(CLN6):c.675C>T (p.Val225=)
|
|
|
NM_017882.3(CLN6):c.678C>G (p.Thr226=)
|
rs374744816
|
|
NM_017882.3(CLN6):c.681G>A (p.Glu227=)
|
rs1486759204
|
|
NM_017882.3(CLN6):c.682G>A (p.Gly228Ser)
|
rs1057520095
|
|
NM_017882.3(CLN6):c.683G>A (p.Gly228Asp)
|
|
|
NM_017882.3(CLN6):c.684C>A (p.Gly228=)
|
rs1209133488
|
|
NM_017882.3(CLN6):c.685C>G (p.Gln229Glu)
|
|
|
NM_017882.3(CLN6):c.68C>A (p.Ser23Tyr)
|
|
|
NM_017882.3(CLN6):c.690C>A (p.Ile230=)
|
|
|
NM_017882.3(CLN6):c.696C>G (p.Ile232Met)
|
rs2141136135
|
|
NM_017882.3(CLN6):c.69C>T (p.Ser23=)
|
|
|
NM_017882.3(CLN6):c.700T>C (p.Phe234Leu)
|
|
|
NM_017882.3(CLN6):c.701T>C (p.Phe234Ser)
|
rs2141136125
|
|
NM_017882.3(CLN6):c.702C>A (p.Phe234Leu)
|
rs1555438267
|
|
NM_017882.3(CLN6):c.706T>G (p.Phe236Val)
|
rs796052358
|
|
NM_017882.3(CLN6):c.707T>C (p.Phe236Ser)
|
|
|
NM_017882.3(CLN6):c.711C>T (p.Thr237=)
|
rs2141136113
|
|
NM_017882.3(CLN6):c.712T>A (p.Phe238Ile)
|
rs154774637
|
|
NM_017882.3(CLN6):c.712_713delinsAC (p.Phe238Thr)
|
rs2141136108
|
|
NM_017882.3(CLN6):c.717C>T (p.Phe239=)
|
rs745850620
|
|
NM_017882.3(CLN6):c.719C>T (p.Ala240Val)
|
rs2093194119
|
|
NM_017882.3(CLN6):c.720C>T (p.Ala240=)
|
|
|
NM_017882.3(CLN6):c.721A>G (p.Met241Val)
|
rs753994750
|
|
NM_017882.3(CLN6):c.722T>C (p.Met241Thr)
|
rs1555438255
|
|
NM_017882.3(CLN6):c.723G>C (p.Met241Ile)
|
|
|
NM_017882.3(CLN6):c.723G>T (p.Met241Ile)
|
rs149262877
|
|
NM_017882.3(CLN6):c.724C>T (p.Leu242=)
|
rs2093194081
|
|
NM_017882.3(CLN6):c.730C>G (p.Leu244Val)
|
rs2093194059
|
|
NM_017882.3(CLN6):c.733G>A (p.Val245Ile)
|
rs377192977
|
|
NM_017882.3(CLN6):c.735C>G (p.Val245=)
|
|
|
NM_017882.3(CLN6):c.739del (p.His247fs)
|
|
|
NM_017882.3(CLN6):c.73C>T (p.Leu25=)
|
|
|
NM_017882.3(CLN6):c.746A>C (p.Lys249Thr)
|
|
|
NM_017882.3(CLN6):c.747G>A (p.Lys249=)
|
rs2093194013
|
|
NM_017882.3(CLN6):c.748C>G (p.Arg250Gly)
|
rs950362413
|
|
NM_017882.3(CLN6):c.753G>A (p.Lys251=)
|
|
|
NM_017882.3(CLN6):c.756C>T (p.Arg252=)
|
|
|
NM_017882.3(CLN6):c.757C>T (p.Leu253Phe)
|
rs1274562752
|
|
NM_017882.3(CLN6):c.759C>G (p.Leu253=)
|
rs1567094628
|
|
NM_017882.3(CLN6):c.759C>T (p.Leu253=)
|
rs1567094628
|
|
NM_017882.3(CLN6):c.75G>A (p.Leu25=)
|
|
|
NM_017882.3(CLN6):c.75G>T (p.Leu25=)
|
rs2093262478
|
|
NM_017882.3(CLN6):c.765G>A (p.Leu255=)
|
|
|
NM_017882.3(CLN6):c.766_770del (p.Asp256fs)
|
rs1555438234
|
|
NM_017882.3(CLN6):c.773A>G (p.Asn258Ser)
|
|
|
NM_017882.3(CLN6):c.774C>T (p.Asn258=)
|
rs1555438231
|
|
NM_017882.3(CLN6):c.775G>C (p.Gly259Arg)
|
rs150363441
|
|
NM_017882.3(CLN6):c.775G>T (p.Gly259Cys)
|
rs150363441
|
|
NM_017882.3(CLN6):c.777C>T (p.Gly259=)
|
|
|
NM_017882.3(CLN6):c.782T>C (p.Phe261Ser)
|
rs2141136011
|
|
NM_017882.3(CLN6):c.783C>G (p.Phe261Leu)
|
|
|
NM_017882.3(CLN6):c.783C>T (p.Phe261=)
|
|
|
NM_017882.3(CLN6):c.786C>T (p.Leu262=)
|
|
|
NM_017882.3(CLN6):c.786_787dup (p.Phe263fs)
|
rs1555438229
|
|
NM_017882.3(CLN6):c.789C>T (p.Phe263=)
|
|
|
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)
|
rs768422260
|
|
NM_017882.3(CLN6):c.795C>T (p.Ser265=)
|
|
|
NM_017882.3(CLN6):c.797T>C (p.Phe266Ser)
|
rs1064796180
|
|
NM_017882.3(CLN6):c.7del (p.Ala3fs)
|
rs786205065
|
|
NM_017882.3(CLN6):c.802C>T (p.Leu268=)
|
|
|
NM_017882.3(CLN6):c.804G>A (p.Leu268=)
|
rs2141135982
|
|
NM_017882.3(CLN6):c.804G>T (p.Leu268=)
|
rs2141135982
|
|
NM_017882.3(CLN6):c.809T>C (p.Leu270Pro)
|
rs796052359
|
|
NM_017882.3(CLN6):c.813G>A (p.Leu271=)
|
|
|
NM_017882.3(CLN6):c.814C>G (p.Leu272Val)
|
|
|
NM_017882.3(CLN6):c.818T>C (p.Val273Ala)
|
rs2141135967
|
|
NM_017882.3(CLN6):c.81C>T (p.Ala27=)
|
|
|
NM_017882.3(CLN6):c.822G>C (p.Ala274=)
|
|
|
NM_017882.3(CLN6):c.822G>T (p.Ala274=)
|
|
|
NM_017882.3(CLN6):c.825C>G (p.Leu275=)
|
|
|
NM_017882.3(CLN6):c.827G>A (p.Trp276Ter)
|
|
|
NM_017882.3(CLN6):c.828G>T (p.Trp276Cys)
|
rs2093193718
|
|
NM_017882.3(CLN6):c.829_832del (p.Val277fs)
|
rs1595816474
|
|
NM_017882.3(CLN6):c.82A>T (p.Arg28Trp)
|
rs2093262448
|
|
NM_017882.3(CLN6):c.83+11G>A
|
rs2093262385
|
|
NM_017882.3(CLN6):c.83+13C>G
|
|
|
NM_017882.3(CLN6):c.83+14G>A
|
|
|
NM_017882.3(CLN6):c.83+14dup
|
rs756808642
|
|
NM_017882.3(CLN6):c.83+15G>A
|
|
|
NM_017882.3(CLN6):c.83+188_83+191del
|
rs66812362
|
|
NM_017882.3(CLN6):c.83+1G>C
|
rs2141156157
|
|
NM_017882.3(CLN6):c.83+225del
|
rs577777835
|
|
NM_017882.3(CLN6):c.83+2T>G
|
rs1555440188
|
|
NM_017882.3(CLN6):c.83+6C>T
|
|
|
NM_017882.3(CLN6):c.83+7G>A
|
rs1595826955
|
|
NM_017882.3(CLN6):c.83+9G>A
|
rs2141156141
|
|
NM_017882.3(CLN6):c.83+9G>C
|
|
|
NM_017882.3(CLN6):c.831C>A (p.Val277=)
|
|
|
NM_017882.3(CLN6):c.834C>T (p.Ala278=)
|
|
|
NM_017882.3(CLN6):c.837del (p.Trp279fs)
|
rs1595816465
|
|
NM_017882.3(CLN6):c.838C>A (p.Leu280Met)
|
|
|
NM_017882.3(CLN6):c.83G>C (p.Arg28Thr)
|
|
|
NM_017882.3(CLN6):c.84-12G>C
|
|
|
NM_017882.3(CLN6):c.84-16T>A
|
|
|
NM_017882.3(CLN6):c.84-17G>A
|
|
|
NM_017882.3(CLN6):c.84-17G>T
|
|
|
NM_017882.3(CLN6):c.84-17_84-15del
|
|
|
NM_017882.3(CLN6):c.84-18C>A
|
|
|
NM_017882.3(CLN6):c.84-3del
|
rs2141145190
|
|
NM_017882.3(CLN6):c.84-4C>G
|
|
|
NM_017882.3(CLN6):c.84-4C>T
|
|
|
NM_017882.3(CLN6):c.840G>C (p.Leu280=)
|
|
|
NM_017882.3(CLN6):c.843G>C (p.Trp281Cys)
|
|
|
NM_017882.3(CLN6):c.849C>A (p.Asp283Glu)
|
rs1239948245
|
|
NM_017882.3(CLN6):c.852T>A (p.Pro284=)
|
|
|
NM_017882.3(CLN6):c.852T>C (p.Pro284=)
|
rs2141135937
|
|
NM_017882.3(CLN6):c.858C>G (p.Leu286=)
|
|
|
NM_017882.3(CLN6):c.858C>T (p.Leu286=)
|
rs1043430340
|
|
NM_017882.3(CLN6):c.859A>T (p.Arg287Trp)
|
rs2141135931
|
|
NM_017882.3(CLN6):c.864G>T (p.Lys288Asn)
|
|
|
NM_017882.3(CLN6):c.866A>G (p.Lys289Arg)
|
|
|
NM_017882.3(CLN6):c.872dup (p.Val293fs)
|
|
|
NM_017882.3(CLN6):c.873G>A (p.Pro291=)
|
rs567275786
|
|
NM_017882.3(CLN6):c.875G>A (p.Gly292Asp)
|
rs1399309224
|
|
NM_017882.3(CLN6):c.875G>C (p.Gly292Ala)
|
|
|
NM_017882.3(CLN6):c.876T>C (p.Gly292=)
|
rs916275768
|
|
NM_017882.3(CLN6):c.879C>T (p.Val293=)
|
|
|
NM_017882.3(CLN6):c.883T>C (p.Tyr295His)
|
|
|
NM_017882.3(CLN6):c.884A>G (p.Tyr295Cys)
|
rs2141135900
|
|
NM_017882.3(CLN6):c.888C>T (p.Val296=)
|
|
|
NM_017882.3(CLN6):c.890del (p.Pro297fs)
|
rs154774639
|
|
NM_017882.3(CLN6):c.896C>A (p.Pro299His)
|
rs758921701
|
|
NM_017882.3(CLN6):c.89G>C (p.Gly30Ala)
|
rs753497587
|
|
NM_017882.3(CLN6):c.902C>G (p.Ala301Gly)
|
rs1064796587
|
|
NM_017882.3(CLN6):c.909C>A (p.Tyr303Ter)
|
rs1448520404
|
|
NM_017882.3(CLN6):c.90C>G (p.Gly30=)
|
|
|
NM_017882.3(CLN6):c.912C>G (p.Thr304=)
|
|
|
NM_017882.3(CLN6):c.915del (p.His306fs)
|
|
|
NM_017882.3(CLN6):c.919G>A (p.Val307Ile)
|
rs146801142
|
|
NM_017882.3(CLN6):c.919G>T (p.Val307Phe)
|
rs146801142
|
|
NM_017882.3(CLN6):c.921_922delinsTC (p.Ser308Arg)
|
rs2141135839
|
|
NM_017882.3(CLN6):c.925A>C (p.Ser309Arg)
|
rs762916725
|
|
NM_017882.3(CLN6):c.925A>G (p.Ser309Gly)
|
rs762916725
|
|
NM_017882.3(CLN6):c.928C>T (p.Arg310Trp)
|
|
|
NM_017882.3(CLN6):c.92C>G (p.Ser31Cys)
|
rs2141145171
|
|
NM_017882.3(CLN6):c.95T>G (p.Val32Gly)
|
|
|
NM_017882.3(CLN6):c.9G>A (p.Ala3=)
|
|
|
NM_017882.3(CLN6):c.9G>C (p.Ala3=)
|
|
|