NM_015072.5(TTLL5):c.1709-7T>C
|
rs2359870
|
0.99609
|
NM_015072.5(TTLL5):c.1187-56G>T
|
rs2288141
|
0.66272
|
NM_015072.5(TTLL5):c.446C>T (p.Ala149Val)
|
rs2303345
|
0.48575
|
NM_015072.5(TTLL5):c.3800T>C (p.Phe1267Ser)
|
rs1133834
|
0.30514
|
NM_015072.5(TTLL5):c.3498G>A (p.Leu1166=)
|
rs3742764
|
0.13480
|
NM_015072.5(TTLL5):c.2016-74G>A
|
rs17783198
|
0.10565
|
NM_015072.5(TTLL5):c.2136+6G>C
|
rs45480992
|
0.10133
|
NM_015072.5(TTLL5):c.265-63T>C
|
rs1477464
|
0.09139
|
NM_015072.5(TTLL5):c.934+45A>G
|
rs17783174
|
0.04401
|
NM_015072.5(TTLL5):c.2388-12T>C
|
rs72725608
|
0.02584
|
NM_015072.5(TTLL5):c.502+69T>G
|
rs77074815
|
0.02384
|
NM_015072.5(TTLL5):c.1396-22T>C
|
rs77593112
|
0.02130
|
NM_015072.5(TTLL5):c.2516-61A>G
|
rs45622233
|
0.01757
|
NM_015072.5(TTLL5):c.75-3T>C
|
rs117173802
|
0.01615
|
NM_015072.5(TTLL5):c.2232C>T (p.Arg744=)
|
rs2288143
|
0.01345
|
NM_015072.5(TTLL5):c.181+23A>G
|
rs147225754
|
0.01247
|
NM_015072.5(TTLL5):c.2872A>G (p.Thr958Ala)
|
rs148677697
|
0.01233
|
NM_015072.5(TTLL5):c.3522+74G>A
|
rs9919890
|
0.00987
|
NM_015072.5(TTLL5):c.265-47G>T
|
rs147917101
|
0.00973
|
NM_015072.5(TTLL5):c.181+4C>T
|
rs117639142
|
0.00939
|
NM_015072.5(TTLL5):c.1186+14T>G
|
rs114107464
|
0.00898
|
NM_015072.5(TTLL5):c.2629G>A (p.Ala877Thr)
|
rs112181538
|
0.00715
|
NM_015072.5(TTLL5):c.1773C>T (p.Val591=)
|
rs61741261
|
0.00711
|
NM_015072.5(TTLL5):c.3544C>T (p.Leu1182=)
|
rs143302131
|
0.00659
|
NM_015072.5(TTLL5):c.1395+11G>T
|
rs79846725
|
0.00603
|
NM_015072.5(TTLL5):c.2637A>C (p.Leu879Phe)
|
rs146036604
|
0.00396
|
NM_015072.5(TTLL5):c.1963C>T (p.Leu655=)
|
rs142427449
|
0.00320
|
NM_015072.5(TTLL5):c.2891G>A (p.Arg964Gln)
|
rs142169707
|
0.00269
|
NM_015072.5(TTLL5):c.1774G>A (p.Ala592Thr)
|
rs11848004
|
0.00238
|
NM_015072.5(TTLL5):c.1326C>T (p.Leu442=)
|
rs141322942
|
0.00219
|
NM_015072.5(TTLL5):c.354A>G (p.Lys118=)
|
rs142072074
|
0.00185
|
NM_015072.5(TTLL5):c.2603-3T>C
|
rs185326652
|
0.00175
|
NM_015072.5(TTLL5):c.576G>T (p.Leu192=)
|
rs556212778
|
0.00164
|
NM_015072.5(TTLL5):c.670G>A (p.Val224Met)
|
rs17849666
|
0.00105
|
NM_015072.5(TTLL5):c.1226G>A (p.Arg409Gln)
|
rs142465256
|
0.00090
|
NM_015072.5(TTLL5):c.1709-9C>T
|
rs373032875
|
0.00083
|
NM_015072.5(TTLL5):c.2137-12T>C
|
rs186428372
|
0.00081
|
NM_015072.5(TTLL5):c.934+10G>A
|
rs192536539
|
0.00079
|
NM_015072.5(TTLL5):c.1576T>C (p.Leu526=)
|
rs2288142
|
0.00074
|
NM_015072.5(TTLL5):c.2965C>T (p.Arg989Cys)
|
rs151205932
|
0.00066
|
NM_015072.5(TTLL5):c.1422G>A (p.Glu474=)
|
rs145268057
|
0.00065
|
NM_015072.5(TTLL5):c.1897A>G (p.Asn633Asp)
|
rs141429300
|
0.00060
|
NM_015072.5(TTLL5):c.740+6A>G
|
rs185044527
|
0.00060
|
NM_015072.5(TTLL5):c.3803T>C (p.Val1268Ala)
|
rs137888249
|
0.00058
|
NM_015072.5(TTLL5):c.933C>T (p.Thr311=)
|
rs77742126
|
0.00057
|
NM_015072.5(TTLL5):c.490G>A (p.Ala164Thr)
|
rs143151165
|
0.00053
|
NM_015072.5(TTLL5):c.141C>T (p.Asp47=)
|
rs540867894
|
0.00048
|
NM_015072.5(TTLL5):c.3752C>T (p.Ala1251Val)
|
rs138045400
|
0.00047
|
NM_015072.5(TTLL5):c.40T>C (p.Ser14Pro)
|
rs201704357
|
0.00046
|
NM_015072.5(TTLL5):c.609G>C (p.Glu203Asp)
|
rs17856074
|
0.00046
|
NM_015072.5(TTLL5):c.824A>G (p.Lys275Arg)
|
rs145430209
|
0.00046
|
NM_015072.5(TTLL5):c.3461A>C (p.Gln1154Pro)
|
rs573319891
|
0.00043
|
NM_015072.5(TTLL5):c.1969C>T (p.Pro657Ser)
|
rs150120928
|
0.00039
|
NM_015072.5(TTLL5):c.3425C>T (p.Thr1142Ile)
|
rs143882862
|
0.00039
|
NM_015072.5(TTLL5):c.3395G>A (p.Gly1132Glu)
|
rs146051440
|
0.00036
|
NM_015072.5(TTLL5):c.2136+16C>G
|
rs377039435
|
0.00033
|
NM_015072.5(TTLL5):c.2950A>T (p.Ser984Cys)
|
rs141204322
|
0.00031
|
NM_015072.5(TTLL5):c.1186+9T>C
|
rs1406748679
|
0.00028
|
NM_015072.5(TTLL5):c.3419A>G (p.His1140Arg)
|
rs140038179
|
0.00028
|
NM_015072.5(TTLL5):c.2536G>A (p.Glu846Lys)
|
rs147186140
|
0.00027
|
NM_015072.5(TTLL5):c.1627G>A (p.Glu543Lys)
|
rs199882533
|
0.00024
|
NM_015072.5(TTLL5):c.181+18C>T
|
rs546521756
|
0.00024
|
NM_015072.5(TTLL5):c.2262C>T (p.Asp754=)
|
rs767367069
|
0.00022
|
NM_015072.5(TTLL5):c.521G>A (p.Arg174Gln)
|
rs141614130
|
0.00022
|
NM_015072.5(TTLL5):c.1912C>T (p.Arg638Cys)
|
rs61741463
|
0.00021
|
NM_015072.5(TTLL5):c.2930A>G (p.Gln977Arg)
|
rs576592642
|
0.00021
|
NM_015072.5(TTLL5):c.1187-7C>G
|
rs772006292
|
0.00020
|
NM_015072.5(TTLL5):c.1187-8C>T
|
rs748140679
|
0.00020
|
NM_015072.5(TTLL5):c.3327-16T>C
|
rs557646685
|
0.00019
|
NM_015072.5(TTLL5):c.501T>C (p.Cys167=)
|
rs367911993
|
0.00019
|
NM_015072.5(TTLL5):c.2970C>G (p.Pro990=)
|
rs140291071
|
0.00017
|
NM_015072.5(TTLL5):c.1255A>G (p.Arg419Gly)
|
rs143853946
|
0.00016
|
NM_015072.5(TTLL5):c.1310C>T (p.Ala437Val)
|
rs112023579
|
0.00016
|
NM_015072.5(TTLL5):c.274A>G (p.Ser92Gly)
|
rs149084771
|
0.00016
|
NM_015072.5(TTLL5):c.3642A>T (p.Lys1214Asn)
|
rs146149200
|
0.00016
|
NM_015072.5(TTLL5):c.624C>A (p.Ser208=)
|
rs192932593
|
0.00016
|
NM_015072.5(TTLL5):c.1159A>G (p.Met387Val)
|
rs201783571
|
0.00014
|
NM_015072.5(TTLL5):c.1903A>G (p.Met635Val)
|
rs145086453
|
0.00014
|
NM_015072.5(TTLL5):c.1662T>G (p.Arg554=)
|
rs1045127706
|
0.00013
|
NM_015072.5(TTLL5):c.2357A>T (p.Glu786Val)
|
rs372279209
|
0.00013
|
NM_015072.5(TTLL5):c.564G>A (p.Arg188=)
|
rs139084674
|
0.00013
|
NM_015072.5(TTLL5):c.1920G>A (p.Trp640Ter)
|
rs367693933
|
0.00012
|
NM_015072.5(TTLL5):c.2052C>T (p.Leu684=)
|
rs374872936
|
0.00012
|
NM_015072.5(TTLL5):c.2847C>T (p.Pro949=)
|
rs375420838
|
0.00012
|
NM_015072.5(TTLL5):c.92T>C (p.Met31Thr)
|
rs139124485
|
0.00012
|
NM_015072.5(TTLL5):c.1409G>A (p.Arg470Gln)
|
rs368557430
|
0.00011
|
NM_015072.5(TTLL5):c.2150G>A (p.Arg717His)
|
rs201405297
|
0.00011
|
NM_015072.5(TTLL5):c.2805A>G (p.Leu935=)
|
rs146549418
|
0.00011
|
NM_015072.5(TTLL5):c.377A>C (p.Tyr126Ser)
|
rs138271588
|
0.00011
|
NM_015072.5(TTLL5):c.568G>A (p.Val190Ile)
|
rs374783896
|
0.00011
|
NM_015072.5(TTLL5):c.1059C>T (p.Asp353=)
|
rs373070614
|
0.00010
|
NM_015072.5(TTLL5):c.1781A>G (p.Asp594Gly)
|
rs148938066
|
0.00010
|
NM_015072.5(TTLL5):c.2387+11T>A
|
rs747215169
|
0.00010
|
NM_015072.5(TTLL5):c.3264G>A (p.Pro1088=)
|
rs376141983
|
0.00010
|
NM_015072.5(TTLL5):c.3666C>T (p.Cys1222=)
|
rs141359185
|
0.00010
|
NM_015072.5(TTLL5):c.412A>G (p.Ile138Val)
|
rs780232533
|
0.00010
|
NM_015072.5(TTLL5):c.492G>A (p.Ala164=)
|
rs374875191
|
0.00010
|
NM_015072.5(TTLL5):c.1513A>G (p.Met505Val)
|
rs781316021
|
0.00009
|
NM_015072.5(TTLL5):c.1852T>C (p.Tyr618His)
|
rs146649407
|
0.00009
|
NM_015072.5(TTLL5):c.233G>A (p.Arg78His)
|
rs750217504
|
0.00009
|
NM_015072.5(TTLL5):c.3437A>G (p.Tyr1146Cys)
|
rs146889412
|
0.00009
|
NM_015072.5(TTLL5):c.3447A>G (p.Gln1149=)
|
rs140548477
|
0.00009
|
NM_015072.5(TTLL5):c.3756A>G (p.Glu1252=)
|
rs146101884
|
0.00009
|
NM_015072.5(TTLL5):c.3785T>C (p.Leu1262Pro)
|
rs143635737
|
0.00009
|
NM_015072.5(TTLL5):c.513G>A (p.Ser171=)
|
rs375994206
|
0.00009
|
NM_015072.5(TTLL5):c.51G>C (p.Glu17Asp)
|
rs369916219
|
0.00009
|
NM_015072.5(TTLL5):c.879A>G (p.Lys293=)
|
rs202058075
|
0.00009
|
NM_015072.5(TTLL5):c.1289G>A (p.Arg430His)
|
rs757963244
|
0.00008
|
NM_015072.5(TTLL5):c.172G>T (p.Val58Leu)
|
rs763162558
|
0.00008
|
NM_015072.5(TTLL5):c.2089G>A (p.Gly697Ser)
|
rs367910225
|
0.00008
|
NM_015072.5(TTLL5):c.2137-4A>G
|
rs763286618
|
0.00008
|
NM_015072.5(TTLL5):c.3508C>T (p.Arg1170Ter)
|
rs769845921
|
0.00008
|
NM_015072.5(TTLL5):c.3823+10C>T
|
rs372087412
|
0.00008
|
NM_015072.5(TTLL5):c.526C>T (p.Pro176Ser)
|
rs146224123
|
0.00008
|
NM_015072.5(TTLL5):c.1433G>A (p.Arg478Gln)
|
rs1029865156
|
0.00007
|
NM_015072.5(TTLL5):c.2966G>A (p.Arg989His)
|
rs375900619
|
0.00007
|
NM_015072.5(TTLL5):c.3172-13G>A
|
rs370039944
|
0.00007
|
NM_015072.5(TTLL5):c.3331C>T (p.Leu1111=)
|
rs758786838
|
0.00007
|
NM_015072.5(TTLL5):c.3691C>T (p.Pro1231Ser)
|
rs11844617
|
0.00007
|
NM_015072.5(TTLL5):c.1281+9A>G
|
rs374428308
|
0.00006
|
NM_015072.5(TTLL5):c.1497C>T (p.Leu499=)
|
rs778083827
|
0.00006
|
NM_015072.5(TTLL5):c.1626C>T (p.Tyr542=)
|
rs377113362
|
0.00006
|
NM_015072.5(TTLL5):c.2199A>G (p.Val733=)
|
rs908319583
|
0.00006
|
NM_015072.5(TTLL5):c.2815G>A (p.Val939Ile)
|
rs200806918
|
0.00006
|
NM_015072.5(TTLL5):c.3699C>T (p.His1233=)
|
rs185999044
|
0.00006
|
NM_015072.5(TTLL5):c.431C>T (p.Thr144Ile)
|
rs200596181
|
0.00006
|
NM_015072.5(TTLL5):c.486G>A (p.Glu162=)
|
rs374680809
|
0.00006
|
NM_015072.5(TTLL5):c.491C>T (p.Ala164Val)
|
rs370083774
|
0.00006
|
NM_015072.5(TTLL5):c.655+20T>G
|
rs762213780
|
0.00006
|
NM_015072.5(TTLL5):c.74+6T>G
|
rs751971515
|
0.00006
|
NM_015072.5(TTLL5):c.781C>T (p.Arg261Trp)
|
rs563243448
|
0.00006
|
NM_015072.5(TTLL5):c.850G>A (p.Asp284Asn)
|
rs143218190
|
0.00006
|
NM_015072.5(TTLL5):c.983C>T (p.Ala328Val)
|
rs138264261
|
0.00006
|
NM_015072.5(TTLL5):c.986A>G (p.Glu329Gly)
|
rs774802227
|
0.00006
|
NM_015072.5(TTLL5):c.1214G>A (p.Arg405Gln)
|
rs370288328
|
0.00005
|
NM_015072.5(TTLL5):c.2016-4A>G
|
rs760629839
|
0.00005
|
NM_015072.5(TTLL5):c.2057A>G (p.His686Arg)
|
rs758944388
|
0.00005
|
NM_015072.5(TTLL5):c.208G>T (p.Val70Leu)
|
rs761068583
|
0.00005
|
NM_015072.5(TTLL5):c.2230C>T (p.Arg744Cys)
|
rs201309706
|
0.00005
|
NM_015072.5(TTLL5):c.2439T>G (p.Ser813=)
|
rs374776244
|
0.00005
|
NM_015072.5(TTLL5):c.25C>G (p.Leu9Val)
|
rs747924529
|
0.00005
|
NM_015072.5(TTLL5):c.2987-11C>T
|
rs377468714
|
0.00005
|
NM_015072.5(TTLL5):c.3104G>A (p.Arg1035Gln)
|
rs767213119
|
0.00005
|
NM_015072.5(TTLL5):c.3126G>A (p.Ala1042=)
|
rs528586611
|
0.00005
|
NM_015072.5(TTLL5):c.3376G>A (p.Val1126Met)
|
rs542956518
|
0.00005
|
NM_015072.5(TTLL5):c.389G>A (p.Arg130Gln)
|
rs757381290
|
0.00005
|
NM_015072.5(TTLL5):c.426G>A (p.Gln142=)
|
rs777618669
|
0.00005
|
NM_015072.5(TTLL5):c.468C>G (p.Thr156=)
|
rs149433867
|
0.00005
|
NM_015072.5(TTLL5):c.935-15A>C
|
rs1043689423
|
0.00005
|
NM_015072.5(TTLL5):c.1124+14A>G
|
rs759219958
|
0.00004
|
NM_015072.5(TTLL5):c.1259G>A (p.Arg420Gln)
|
rs770816273
|
0.00004
|
NM_015072.5(TTLL5):c.1269C>A (p.Phe423Leu)
|
rs189135452
|
0.00004
|
NM_015072.5(TTLL5):c.127G>T (p.Val43Leu)
|
rs144141238
|
0.00004
|
NM_015072.5(TTLL5):c.129A>G (p.Val43=)
|
rs1004624962
|
0.00004
|
NM_015072.5(TTLL5):c.1534C>T (p.Arg512Cys)
|
rs746661330
|
0.00004
|
NM_015072.5(TTLL5):c.1621C>G (p.Leu541Val)
|
rs1378778170
|
0.00004
|
NM_015072.5(TTLL5):c.1708+7G>A
|
rs374854761
|
0.00004
|
NM_015072.5(TTLL5):c.2061T>A (p.Val687=)
|
rs1009745600
|
0.00004
|
NM_015072.5(TTLL5):c.2132_2135dup (p.Met712fs)
|
rs781415819
|
0.00004
|
NM_015072.5(TTLL5):c.2143G>C (p.Val715Leu)
|
rs751595648
|
0.00004
|
NM_015072.5(TTLL5):c.2166A>G (p.Ala722=)
|
rs541700043
|
0.00004
|
NM_015072.5(TTLL5):c.2210G>A (p.Arg737Gln)
|
rs762742540
|
0.00004
|
NM_015072.5(TTLL5):c.2212C>T (p.Arg738Ter)
|
rs377702881
|
0.00004
|
NM_015072.5(TTLL5):c.2234G>A (p.Arg745Lys)
|
rs373164064
|
0.00004
|
NM_015072.5(TTLL5):c.232C>T (p.Arg78Cys)
|
rs369997391
|
0.00004
|
NM_015072.5(TTLL5):c.2573C>T (p.Thr858Met)
|
rs142328630
|
0.00004
|
NM_015072.5(TTLL5):c.2626G>C (p.Glu876Gln)
|
rs760860657
|
0.00004
|
NM_015072.5(TTLL5):c.2987-10G>A
|
rs777187943
|
0.00004
|
NM_015072.5(TTLL5):c.3020T>C (p.Ile1007Thr)
|
rs754769449
|
0.00004
|
NM_015072.5(TTLL5):c.3145A>G (p.Ser1049Gly)
|
rs147228168
|
0.00004
|
NM_015072.5(TTLL5):c.3172-16C>G
|
rs762842146
|
0.00004
|
NM_015072.5(TTLL5):c.3263C>T (p.Pro1088Leu)
|
rs767195442
|
0.00004
|
NM_015072.5(TTLL5):c.3375C>T (p.Asn1125=)
|
rs377388883
|
0.00004
|
NM_015072.5(TTLL5):c.3700G>A (p.Glu1234Lys)
|
rs772723003
|
0.00004
|
NM_015072.5(TTLL5):c.3747C>T (p.Ser1249=)
|
rs367807893
|
0.00004
|
NM_015072.5(TTLL5):c.3753G>A (p.Ala1251=)
|
rs142835737
|
0.00004
|
NM_015072.5(TTLL5):c.387C>T (p.Thr129=)
|
rs373045019
|
0.00004
|
NM_015072.5(TTLL5):c.398G>A (p.Arg133Gln)
|
rs533894435
|
0.00004
|
NM_015072.5(TTLL5):c.53A>G (p.Asp18Gly)
|
rs776534405
|
0.00004
|
NM_015072.5(TTLL5):c.567C>T (p.Gly189=)
|
rs369856390
|
0.00004
|
NM_015072.5(TTLL5):c.75-8C>T
|
rs574913177
|
0.00004
|
NM_015072.5(TTLL5):c.843-16T>C
|
rs199828180
|
0.00004
|
NM_015072.5(TTLL5):c.990A>G (p.Leu330=)
|
rs191549100
|
0.00004
|
NM_015072.5(TTLL5):c.1065C>T (p.Leu355=)
|
rs750525552
|
0.00003
|
NM_015072.5(TTLL5):c.1070A>T (p.Asp357Val)
|
rs756216913
|
0.00003
|
NM_015072.5(TTLL5):c.138C>T (p.Ala46=)
|
rs570513349
|
0.00003
|
NM_015072.5(TTLL5):c.1521T>C (p.Tyr507=)
|
rs749599859
|
0.00003
|
NM_015072.5(TTLL5):c.1568C>T (p.Ala523Val)
|
rs1393819034
|
0.00003
|
NM_015072.5(TTLL5):c.189T>C (p.Tyr63=)
|
rs772480677
|
0.00003
|
NM_015072.5(TTLL5):c.2015+20A>G
|
rs747534524
|
0.00003
|
NM_015072.5(TTLL5):c.2602+1G>A
|
rs867401129
|
0.00003
|
NM_015072.5(TTLL5):c.2652C>G (p.Ser884=)
|
rs758830351
|
0.00003
|
NM_015072.5(TTLL5):c.2742C>T (p.His914=)
|
rs199750590
|
0.00003
|
NM_015072.5(TTLL5):c.296T>C (p.Met99Thr)
|
rs142141819
|
0.00003
|
NM_015072.5(TTLL5):c.3067C>T (p.Arg1023Trp)
|
rs559290024
|
0.00003
|
NM_015072.5(TTLL5):c.3155A>G (p.Asn1052Ser)
|
rs138819117
|
0.00003
|
NM_015072.5(TTLL5):c.573C>T (p.Tyr191=)
|
rs992948596
|
0.00003
|
NM_015072.5(TTLL5):c.625C>T (p.Arg209Cys)
|
rs757525224
|
0.00003
|
NM_015072.5(TTLL5):c.936A>G (p.Ala312=)
|
rs760113065
|
0.00003
|
NM_015072.5(TTLL5):c.1013C>T (p.Thr338Ile)
|
rs142999332
|
0.00002
|
NM_015072.5(TTLL5):c.1060G>A (p.Val354Met)
|
rs781509883
|
0.00002
|
NM_015072.5(TTLL5):c.1116T>C (p.Ser372=)
|
rs546587085
|
0.00002
|
NM_015072.5(TTLL5):c.1166C>G (p.Ser389Ter)
|
rs774889687
|
0.00002
|
NM_015072.5(TTLL5):c.1222A>G (p.Thr408Ala)
|
rs752741850
|
0.00002
|
NM_015072.5(TTLL5):c.1282-6C>T
|
rs774267442
|
0.00002
|
NM_015072.5(TTLL5):c.1291C>T (p.Pro431Ser)
|
rs750993500
|
0.00002
|
NM_015072.5(TTLL5):c.1337C>T (p.Ala446Val)
|
rs772710450
|
0.00002
|
NM_015072.5(TTLL5):c.1359G>C (p.Lys453Asn)
|
rs756685377
|
0.00002
|
NM_015072.5(TTLL5):c.1435C>T (p.Arg479Ter)
|
rs753018563
|
0.00002
|
NM_015072.5(TTLL5):c.1535G>A (p.Arg512His)
|
rs770398766
|
0.00002
|
NM_015072.5(TTLL5):c.1552A>G (p.Met518Val)
|
rs774032319
|
0.00002
|
NM_015072.5(TTLL5):c.1667G>A (p.Arg556Gln)
|
rs140783328
|
0.00002
|
NM_015072.5(TTLL5):c.1669C>T (p.Arg557Trp)
|
rs771955076
|
0.00002
|
NM_015072.5(TTLL5):c.1680A>C (p.Arg560Ser)
|
rs759541989
|
0.00002
|
NM_015072.5(TTLL5):c.1709-18G>C
|
rs200028462
|
0.00002
|
NM_015072.5(TTLL5):c.1718A>G (p.Gln573Arg)
|
rs746942017
|
0.00002
|
NM_015072.5(TTLL5):c.184C>T (p.Arg62Cys)
|
rs948170380
|
0.00002
|
NM_015072.5(TTLL5):c.1915G>A (p.Glu639Lys)
|
rs150898821
|
0.00002
|
NM_015072.5(TTLL5):c.1998A>G (p.Gln666=)
|
rs552134181
|
0.00002
|
NM_015072.5(TTLL5):c.2029C>T (p.Arg677Ter)
|
rs138370992
|
0.00002
|
NM_015072.5(TTLL5):c.2040C>G (p.Phe680Leu)
|
rs758606045
|
0.00002
|
NM_015072.5(TTLL5):c.2136+7C>G
|
rs781673837
|
0.00002
|
NM_015072.5(TTLL5):c.2178C>G (p.Leu726=)
|
rs769802064
|
0.00002
|
NM_015072.5(TTLL5):c.2214A>G (p.Arg738=)
|
rs1303705444
|
0.00002
|
NM_015072.5(TTLL5):c.2215T>C (p.Leu739=)
|
rs774690827
|
0.00002
|
NM_015072.5(TTLL5):c.2231G>A (p.Arg744His)
|
rs766807897
|
0.00002
|
NM_015072.5(TTLL5):c.2265T>G (p.Phe755Leu)
|
rs745316288
|
0.00002
|
NM_015072.5(TTLL5):c.2388-2A>G
|
rs752669828
|
0.00002
|
NM_015072.5(TTLL5):c.2515+8T>C
|
rs753526114
|
0.00002
|
NM_015072.5(TTLL5):c.260A>G (p.His87Arg)
|
rs1392147107
|
0.00002
|
NM_015072.5(TTLL5):c.2648A>G (p.Asn883Ser)
|
rs752768188
|
0.00002
|
NM_015072.5(TTLL5):c.2712A>G (p.Thr904=)
|
rs778299564
|
0.00002
|
NM_015072.5(TTLL5):c.3192A>G (p.Ala1064=)
|
rs544253053
|
0.00002
|
NM_015072.5(TTLL5):c.3367G>C (p.Glu1123Gln)
|
rs779740755
|
0.00002
|
NM_015072.5(TTLL5):c.3488G>A (p.Arg1163Gln)
|
rs557573661
|
0.00002
|
NM_015072.5(TTLL5):c.3519C>T (p.His1173=)
|
rs762267171
|
0.00002
|
NM_015072.5(TTLL5):c.3562T>C (p.Trp1188Arg)
|
rs771218524
|
0.00002
|
NM_015072.5(TTLL5):c.3750C>T (p.Ser1250=)
|
rs767719777
|
0.00002
|
NM_015072.5(TTLL5):c.3772C>T (p.Leu1258Phe)
|
rs755399179
|
0.00002
|
NM_015072.5(TTLL5):c.458T>A (p.Leu153His)
|
rs762781195
|
0.00002
|
NM_015072.5(TTLL5):c.512C>T (p.Ser171Leu)
|
rs755712371
|
0.00002
|
NM_015072.5(TTLL5):c.603G>A (p.Leu201=)
|
rs753322914
|
0.00002
|
NM_015072.5(TTLL5):c.626G>A (p.Arg209His)
|
rs781617968
|
0.00002
|
NM_015072.5(TTLL5):c.793A>G (p.Met265Val)
|
rs141360303
|
0.00002
|
NM_015072.5(TTLL5):c.859G>A (p.Val287Met)
|
rs761251852
|
0.00002
|
NM_015072.5(TTLL5):c.864G>A (p.Glu288=)
|
rs371882450
|
0.00002
|
NM_015072.5(TTLL5):c.86G>A (p.Cys29Tyr)
|
rs1207808142
|
0.00002
|
NM_015072.5(TTLL5):c.886A>G (p.Met296Val)
|
rs756717509
|
0.00002
|
NM_015072.5(TTLL5):c.967A>C (p.Lys323Gln)
|
rs375373706
|
0.00002
|
NM_015072.5(TTLL5):c.1028G>A (p.Arg343His)
|
rs759880353
|
0.00001
|
NM_015072.5(TTLL5):c.103G>A (p.Gly35Ser)
|
rs1049723430
|
0.00001
|
NM_015072.5(TTLL5):c.1043-3T>C
|
rs751364673
|
0.00001
|
NM_015072.5(TTLL5):c.1086A>C (p.Pro362=)
|
rs146212436
|
0.00001
|
NM_015072.5(TTLL5):c.1099G>A (p.Val367Met)
|
rs1361306305
|
0.00001
|
NM_015072.5(TTLL5):c.1131G>A (p.Ala377=)
|
rs758828125
|
0.00001
|
NM_015072.5(TTLL5):c.1156A>G (p.Ser386Gly)
|
rs745555170
|
0.00001
|
NM_015072.5(TTLL5):c.1183G>A (p.Val395Ile)
|
rs767267264
|
0.00001
|
NM_015072.5(TTLL5):c.1197C>G (p.Cys399Trp)
|
rs137910976
|
0.00001
|
NM_015072.5(TTLL5):c.1206T>C (p.Pro402=)
|
rs370816365
|
0.00001
|
NM_015072.5(TTLL5):c.1235A>T (p.Tyr412Phe)
|
rs757710361
|
0.00001
|
NM_015072.5(TTLL5):c.1271A>G (p.Gln424Arg)
|
rs769960522
|
0.00001
|
NM_015072.5(TTLL5):c.1278T>G (p.Pro426=)
|
rs775565673
|
0.00001
|
NM_015072.5(TTLL5):c.1295T>C (p.Leu432Pro)
|
rs544297180
|
0.00001
|
NM_015072.5(TTLL5):c.1303A>G (p.Ser435Gly)
|
rs1345632163
|
0.00001
|
NM_015072.5(TTLL5):c.1340G>A (p.Arg447Gln)
|
rs745935869
|
0.00001
|
NM_015072.5(TTLL5):c.1396-6A>T
|
rs1485747526
|
0.00001
|
NM_015072.5(TTLL5):c.1426A>G (p.Asn476Asp)
|
rs1344318163
|
0.00001
|
NM_015072.5(TTLL5):c.1451G>A (p.Arg484His)
|
rs746377581
|
0.00001
|
NM_015072.5(TTLL5):c.1453A>C (p.Ile485Leu)
|
rs770110882
|
0.00001
|
NM_015072.5(TTLL5):c.1488-1G>T
|
rs990308427
|
0.00001
|
NM_015072.5(TTLL5):c.1569G>A (p.Ala523=)
|
rs756048011
|
0.00001
|
NM_015072.5(TTLL5):c.1588A>G (p.Ser530Gly)
|
rs1399561968
|
0.00001
|
NM_015072.5(TTLL5):c.1660C>T (p.Arg554Cys)
|
rs768721194
|
0.00001
|
NM_015072.5(TTLL5):c.1733A>G (p.Asn578Ser)
|
rs1179379927
|
0.00001
|
NM_015072.5(TTLL5):c.1754G>A (p.Ser585Asn)
|
rs749266782
|
0.00001
|
NM_015072.5(TTLL5):c.1764G>A (p.Glu588=)
|
rs375691247
|
0.00001
|
NM_015072.5(TTLL5):c.181+5G>A
|
rs762077466
|
0.00001
|
NM_015072.5(TTLL5):c.1816G>A (p.Glu606Lys)
|
rs762434843
|
0.00001
|
NM_015072.5(TTLL5):c.182-11T>G
|
rs1884611963
|
0.00001
|
NM_015072.5(TTLL5):c.1826G>A (p.Gly609Glu)
|
rs751543052
|
0.00001
|
NM_015072.5(TTLL5):c.1835G>A (p.Arg612Lys)
|
rs1890963625
|
0.00001
|
NM_015072.5(TTLL5):c.1847C>G (p.Ala616Gly)
|
rs750134887
|
0.00001
|
NM_015072.5(TTLL5):c.1851A>G (p.Lys617=)
|
rs977927246
|
0.00001
|
NM_015072.5(TTLL5):c.1947A>T (p.Lys649Asn)
|
rs1890966914
|
0.00001
|
NM_015072.5(TTLL5):c.1949T>C (p.Leu650Pro)
|
rs1200300838
|
0.00001
|
NM_015072.5(TTLL5):c.1968G>A (p.Glu656=)
|
rs1200293120
|
0.00001
|
NM_015072.5(TTLL5):c.1987C>T (p.Gln663Ter)
|
rs754048173
|
0.00001
|
NM_015072.5(TTLL5):c.1993C>T (p.Leu665Phe)
|
rs532337280
|
0.00001
|
NM_015072.5(TTLL5):c.2015+4T>A
|
rs1405014113
|
0.00001
|
NM_015072.5(TTLL5):c.2030G>A (p.Arg677Gln)
|
rs765491333
|
0.00001
|
NM_015072.5(TTLL5):c.2088C>T (p.Gly696=)
|
rs149255191
|
0.00001
|
NM_015072.5(TTLL5):c.211C>T (p.Arg71Ter)
|
rs1439202144
|
0.00001
|
NM_015072.5(TTLL5):c.212G>A (p.Arg71Gln)
|
rs775184984
|
0.00001
|
NM_015072.5(TTLL5):c.2146G>A (p.Val716Ile)
|
rs762017662
|
0.00001
|
NM_015072.5(TTLL5):c.2149C>T (p.Arg717Cys)
|
rs562332993
|
0.00001
|
NM_015072.5(TTLL5):c.2162G>A (p.Arg721Gln)
|
rs746631669
|
0.00001
|
NM_015072.5(TTLL5):c.218A>G (p.Asp73Gly)
|
rs1212233539
|
0.00001
|
NM_015072.5(TTLL5):c.2260G>C (p.Asp754His)
|
rs1488865083
|
0.00001
|
NM_015072.5(TTLL5):c.2268C>T (p.Ile756=)
|
rs756125504
|
0.00001
|
NM_015072.5(TTLL5):c.2333A>T (p.Glu778Val)
|
rs1471151107
|
0.00001
|
NM_015072.5(TTLL5):c.2354T>C (p.Met785Thr)
|
rs1373380553
|
0.00001
|
NM_015072.5(TTLL5):c.2388-10C>T
|
rs1266790286
|
0.00001
|
NM_015072.5(TTLL5):c.2388-11C>A
|
rs1054044849
|
0.00001
|
NM_015072.5(TTLL5):c.2457G>A (p.Gly819=)
|
rs759018960
|
0.00001
|
NM_015072.5(TTLL5):c.2516-6T>A
|
rs752157376
|
0.00001
|
NM_015072.5(TTLL5):c.2603-12T>C
|
rs1892160523
|
0.00001
|
NM_015072.5(TTLL5):c.2603-4A>G
|
rs550463902
|
0.00001
|
NM_015072.5(TTLL5):c.264+1G>A
|
rs1163242822
|
0.00001
|
NM_015072.5(TTLL5):c.2722C>G (p.Leu908Val)
|
rs771470144
|
0.00001
|
NM_015072.5(TTLL5):c.2748T>C (p.Ser916=)
|
rs776521337
|
0.00001
|
NM_015072.5(TTLL5):c.2781C>T (p.Ser927=)
|
rs757720836
|
0.00001
|
NM_015072.5(TTLL5):c.278G>C (p.Ser93Thr)
|
rs1884795213
|
0.00001
|
NM_015072.5(TTLL5):c.27G>A (p.Leu9=)
|
rs1002516091
|
0.00001
|
NM_015072.5(TTLL5):c.2800A>G (p.Ile934Val)
|
rs750728848
|
0.00001
|
NM_015072.5(TTLL5):c.2851G>A (p.Ala951Thr)
|
rs769458841
|
0.00001
|
NM_015072.5(TTLL5):c.2990C>T (p.Ser997Leu)
|
rs759872181
|
0.00001
|
NM_015072.5(TTLL5):c.3011A>G (p.His1004Arg)
|
rs1892808471
|
0.00001
|
NM_015072.5(TTLL5):c.3057A>G (p.Leu1019=)
|
rs778638291
|
0.00001
|
NM_015072.5(TTLL5):c.3098T>G (p.Leu1033Arg)
|
rs1489208821
|
0.00001
|
NM_015072.5(TTLL5):c.3103C>T (p.Arg1035Trp)
|
rs1348688599
|
0.00001
|
NM_015072.5(TTLL5):c.3158T>G (p.Leu1053Arg)
|
rs776004403
|
0.00001
|
NM_015072.5(TTLL5):c.3165C>G (p.Thr1055=)
|
rs1345050043
|
0.00001
|
NM_015072.5(TTLL5):c.3171+5G>A
|
rs374699458
|
0.00001
|
NM_015072.5(TTLL5):c.3172-2A>G
|
rs756311924
|
0.00001
|
NM_015072.5(TTLL5):c.3172-8A>T
|
rs750662947
|
0.00001
|
NM_015072.5(TTLL5):c.3187T>C (p.Leu1063=)
|
rs144549986
|
0.00001
|
NM_015072.5(TTLL5):c.3199A>G (p.Ile1067Val)
|
rs772308042
|
0.00001
|
NM_015072.5(TTLL5):c.3256A>G (p.Ser1086Gly)
|
rs1894740143
|
0.00001
|
NM_015072.5(TTLL5):c.3267A>G (p.Thr1089=)
|
rs113744854
|
0.00001
|
NM_015072.5(TTLL5):c.3284A>G (p.Asp1095Gly)
|
rs755007471
|
0.00001
|
NM_015072.5(TTLL5):c.3289C>A (p.Gln1097Lys)
|
rs779528644
|
0.00001
|
NM_015072.5(TTLL5):c.3339A>G (p.Thr1113=)
|
rs1472952117
|
0.00001
|
NM_015072.5(TTLL5):c.3510_3519del (p.Ala1171fs)
|
rs2030237603
|
0.00001
|
NM_015072.5(TTLL5):c.3514C>T (p.Arg1172Trp)
|
rs763081813
|
0.00001
|
NM_015072.5(TTLL5):c.3521A>T (p.Gln1174Leu)
|
rs2030239631
|
0.00001
|
NM_015072.5(TTLL5):c.3638A>C (p.Gln1213Pro)
|
rs1218606466
|
0.00001
|
NM_015072.5(TTLL5):c.3662C>A (p.Ser1221Tyr)
|
rs1234999111
|
0.00001
|
NM_015072.5(TTLL5):c.3706G>T (p.Val1236Leu)
|
rs753751587
|
0.00001
|
NM_015072.5(TTLL5):c.3710T>C (p.Leu1237Pro)
|
rs1226502037
|
0.00001
|
NM_015072.5(TTLL5):c.3740+15G>C
|
rs749364611
|
0.00001
|
NM_015072.5(TTLL5):c.3751G>A (p.Ala1251Thr)
|
rs749147754
|
0.00001
|
NM_015072.5(TTLL5):c.3758G>C (p.Gly1253Ala)
|
rs896484588
|
0.00001
|
NM_015072.5(TTLL5):c.3760C>T (p.Gln1254Ter)
|
rs140018292
|
0.00001
|
NM_015072.5(TTLL5):c.3777G>A (p.Gln1259=)
|
rs200369228
|
0.00001
|
NM_015072.5(TTLL5):c.3779G>A (p.Ser1260Asn)
|
rs780814207
|
0.00001
|
NM_015072.5(TTLL5):c.378T>C (p.Tyr126=)
|
rs1489134570
|
0.00001
|
NM_015072.5(TTLL5):c.3807C>T (p.Pro1269=)
|
rs773960556
|
0.00001
|
NM_015072.5(TTLL5):c.3844T>C (p.Ter1282Arg)
|
rs200245431
|
0.00001
|
NM_015072.5(TTLL5):c.388C>T (p.Arg130Trp)
|
rs762832841
|
0.00001
|
NM_015072.5(TTLL5):c.463C>G (p.Gln155Glu)
|
rs1266723091
|
0.00001
|
NM_015072.5(TTLL5):c.472C>T (p.Leu158Phe)
|
rs751426110
|
0.00001
|
NM_015072.5(TTLL5):c.512C>G (p.Ser171Trp)
|
rs755712371
|
0.00001
|
NM_015072.5(TTLL5):c.520C>T (p.Arg174Trp)
|
rs768601418
|
0.00001
|
NM_015072.5(TTLL5):c.562C>T (p.Arg188Trp)
|
rs773542134
|
0.00001
|
NM_015072.5(TTLL5):c.586C>G (p.Pro196Ala)
|
rs936113944
|
0.00001
|
NM_015072.5(TTLL5):c.602T>A (p.Leu201Gln)
|
rs527434155
|
0.00001
|
NM_015072.5(TTLL5):c.629dup (p.Tyr210Ter)
|
rs775585293
|
0.00001
|
NM_015072.5(TTLL5):c.636C>A (p.Asn212Lys)
|
rs1014500396
|
0.00001
|
NM_015072.5(TTLL5):c.722A>T (p.Tyr241Phe)
|
rs1268833900
|
0.00001
|
NM_015072.5(TTLL5):c.74+3A>G
|
rs758975249
|
0.00001
|
NM_015072.5(TTLL5):c.741-13T>G
|
rs371336627
|
0.00001
|
NM_015072.5(TTLL5):c.741G>A (p.Arg247=)
|
rs765401548
|
0.00001
|
NM_015072.5(TTLL5):c.75-6T>G
|
rs759523095
|
0.00001
|
NM_015072.5(TTLL5):c.780T>G (p.Ile260Met)
|
rs754612100
|
0.00001
|
NM_015072.5(TTLL5):c.796C>A (p.His266Asn)
|
rs940338882
|
0.00001
|
NM_015072.5(TTLL5):c.822G>A (p.Lys274=)
|
rs776319636
|
0.00001
|
NM_015072.5(TTLL5):c.839T>C (p.Val280Ala)
|
rs751631931
|
0.00001
|
NM_015072.5(TTLL5):c.860T>C (p.Val287Ala)
|
rs1189352859
|
0.00001
|
NM_015072.5(TTLL5):c.869A>T (p.Tyr290Phe)
|
rs760341785
|
0.00001
|
NM_015072.5(TTLL5):c.906C>T (p.Tyr302=)
|
rs780559854
|
0.00001
|
NM_015072.5(TTLL5):c.934+14C>G
|
rs773144591
|
0.00001
|
NM_015072.5(TTLL5):c.934G>A (p.Ala312Thr)
|
rs147593414
|
0.00001
|
NM_015072.5(TTLL5):c.973A>G (p.Ile325Val)
|
rs1324987122
|
0.00001
|
GRCh37/hg19 14q24.3(chr14:76184204-76201632)x0
|
|
|
GRCh37/hg19 14q24.3(chr14:76279519-76359171)x1
|
|
|
NC_000014.8:g.(?_76129493)_(76286524_?)dup
|
|
|
NC_000014.8:g.(?_76129493)_(76420789_?)dup
|
|
|
NC_000014.8:g.(?_76147868)_(76147990_?)del
|
|
|
NC_000014.8:g.(?_76147868)_(76150019_?)del
|
|
|
NC_000014.8:g.(?_76147868)_(76349265_?)dup
|
|
|
NC_000014.8:g.(?_76156515)_(76156685_?)del
|
|
|
NC_000014.8:g.(?_76165511)_(76211944_?)del
|
|
|
NC_000014.8:g.(?_76184184)_(76201652_?)del
|
|
|
NC_000014.8:g.(?_76211418)_(76211944_?)del
|
|
|
NC_000014.8:g.(?_76230938)_(76259463_?)del
|
|
|
NC_000014.8:g.(?_76238057)_(76238217_?)del
|
|
|
NC_000014.8:g.(?_76249470)_(76286524_?)del
|
|
|
NC_000014.8:g.(?_76259239)_(76286524_?)del
|
|
|
NC_000014.8:g.(?_76286330)_(76286524_?)del
|
|
|
NC_000014.8:g.(?_76286330)_(76286524_?)dup
|
|
|
NC_000014.8:g.(?_76286330)_(76349265_?)del
|
|
|
NC_000014.8:g.(?_76368465)_(76368587_?)del
|
|
|
NC_000014.8:g.(?_76420747)_(76420789_?)del
|
|
|
NC_000014.9:g.(?_75745095)_(75783530_?)del
|
|
|
NC_000014.9:g.(?_75757799)_(75766368_?)del
|
|
|
NC_000014.9:g.(?_75782487)_(75902224_?)del
|
|
|
NM_015072.5(TTLL5):c.1000A>C (p.Thr334Pro)
|
rs1340502181
|
|
NM_015072.5(TTLL5):c.1000A>G (p.Thr334Ala)
|
|
|
NM_015072.5(TTLL5):c.1001C>T (p.Thr334Ile)
|
|
|
NM_015072.5(TTLL5):c.1006T>A (p.Cys336Ser)
|
rs1887780973
|
|
NM_015072.5(TTLL5):c.100G>A (p.Gly34Arg)
|
|
|
NM_015072.5(TTLL5):c.1027C>T (p.Arg343Cys)
|
rs534989089
|
|
NM_015072.5(TTLL5):c.1043-10G>A
|
rs1393443434
|
|
NM_015072.5(TTLL5):c.1043-20G>A
|
|
|
NM_015072.5(TTLL5):c.1043-7T>A
|
rs764027289
|
|
NM_015072.5(TTLL5):c.1044A>G (p.Glu348=)
|
|
|
NM_015072.5(TTLL5):c.1048T>C (p.Tyr350His)
|
rs1888599962
|
|
NM_015072.5(TTLL5):c.1049A>G (p.Tyr350Cys)
|
|
|
NM_015072.5(TTLL5):c.1049_1050del (p.Tyr350fs)
|
|
|
NM_015072.5(TTLL5):c.1053C>G (p.Gly351=)
|
|
|
NM_015072.5(TTLL5):c.1063C>G (p.Leu355Val)
|
rs1888600511
|
|
NM_015072.5(TTLL5):c.1086A>G (p.Pro362=)
|
rs146212436
|
|
NM_015072.5(TTLL5):c.1089del (p.Trp363fs)
|
|
|
NM_015072.5(TTLL5):c.1103A>C (p.Asn368Thr)
|
|
|
NM_015072.5(TTLL5):c.1107C>G (p.Leu369=)
|
|
|
NM_015072.5(TTLL5):c.1110_1111del (p.Pro371fs)
|
|
|
NM_015072.5(TTLL5):c.1112CTT[1] (p.Ser372del)
|
|
|
NM_015072.5(TTLL5):c.1124+68del
|
rs5809726
|
|
NM_015072.5(TTLL5):c.1124+7_1124+8del
|
|
|
NM_015072.5(TTLL5):c.1124+8A>T
|
rs776079901
|
|
NM_015072.5(TTLL5):c.1124+9G>T
|
|
|
NM_015072.5(TTLL5):c.1130C>T (p.Ala377Val)
|
|
|
NM_015072.5(TTLL5):c.1138G>T (p.Asp380Tyr)
|
|
|
NM_015072.5(TTLL5):c.1152A>G (p.Lys384=)
|
|
|
NM_015072.5(TTLL5):c.1186+13A>G
|
|
|
NM_015072.5(TTLL5):c.1186+18C>G
|
|
|
NM_015072.5(TTLL5):c.1186+1G>A
|
|
|
NM_015072.5(TTLL5):c.1186+1del
|
rs2140236907
|
|
NM_015072.5(TTLL5):c.1187-14C>T
|
|
|
NM_015072.5(TTLL5):c.1187-20G>A
|
|
|
NM_015072.5(TTLL5):c.1187-2A>G
|
|
|
NM_015072.5(TTLL5):c.1187-8_1187-7delinsTG
|
rs2140239015
|
|
NM_015072.5(TTLL5):c.1187-9C>A
|
|
|
NM_015072.5(TTLL5):c.1188A>G (p.Gly396=)
|
|
|
NM_015072.5(TTLL5):c.1194G>T (p.Val398=)
|
rs760462202
|
|
NM_015072.5(TTLL5):c.1213C>T (p.Arg405Trp)
|
|
|
NM_015072.5(TTLL5):c.1225C>T (p.Arg409Trp)
|
|
|
NM_015072.5(TTLL5):c.1227G>T (p.Arg409=)
|
rs1191504919
|
|
NM_015072.5(TTLL5):c.1231A>G (p.Ile411Val)
|
|
|
NM_015072.5(TTLL5):c.1241C>T (p.Thr414Ile)
|
rs1034642536
|
|
NM_015072.5(TTLL5):c.1242C>T (p.Thr414=)
|
|
|
NM_015072.5(TTLL5):c.1242del (p.Phe415fs)
|
rs1309614617
|
|
NM_015072.5(TTLL5):c.1245T>A (p.Phe415Leu)
|
rs1394272444
|
|
NM_015072.5(TTLL5):c.1248del (p.Glu416fs)
|
rs1408235770
|
|
NM_015072.5(TTLL5):c.1258C>G (p.Arg420Gly)
|
rs541400148
|
|
NM_015072.5(TTLL5):c.1258C>T (p.Arg420Ter)
|
rs541400148
|
|
NM_015072.5(TTLL5):c.1265C>A (p.Pro422His)
|
|
|
NM_015072.5(TTLL5):c.1269C>T (p.Phe423=)
|
|
|
NM_015072.5(TTLL5):c.1270C>T (p.Gln424Ter)
|
|
|
NM_015072.5(TTLL5):c.1281+17G>C
|
|
|
NM_015072.5(TTLL5):c.1281+18C>G
|
|
|
NM_015072.5(TTLL5):c.1281+18C>T
|
|
|
NM_015072.5(TTLL5):c.1281+19A>G
|
|
|
NM_015072.5(TTLL5):c.1282-16A>G
|
|
|
NM_015072.5(TTLL5):c.1282-18_1282-17delinsAA
|
|
|
NM_015072.5(TTLL5):c.1282-20_1282-18del
|
|
|
NM_015072.5(TTLL5):c.1282-2A>G
|
|
|
NM_015072.5(TTLL5):c.1282C>T (p.Arg428Cys)
|
rs1159674027
|
|
NM_015072.5(TTLL5):c.1285T>G (p.Cys429Gly)
|
|
|
NM_015072.5(TTLL5):c.1288C>G (p.Arg430Gly)
|
rs766847101
|
|
NM_015072.5(TTLL5):c.1288C>T (p.Arg430Cys)
|
rs766847101
|
|
NM_015072.5(TTLL5):c.1301C>T (p.Ala434Val)
|
rs1889526717
|
|
NM_015072.5(TTLL5):c.1302C>A (p.Ala434=)
|
|
|
NM_015072.5(TTLL5):c.1311G>A (p.Ala437=)
|
|
|
NM_015072.5(TTLL5):c.1312G>T (p.Glu438Ter)
|
rs2140258948
|
|
NM_015072.5(TTLL5):c.1327G>A (p.Val443Met)
|
rs150806352
|
|
NM_015072.5(TTLL5):c.1327G>T (p.Val443Leu)
|
rs150806352
|
|
NM_015072.5(TTLL5):c.1339C>G (p.Arg447Gly)
|
rs139653147
|
|
NM_015072.5(TTLL5):c.1339C>T (p.Arg447Trp)
|
rs139653147
|
|
NM_015072.5(TTLL5):c.1340G>C (p.Arg447Pro)
|
|
|
NM_015072.5(TTLL5):c.1353A>G (p.Pro451=)
|
|
|
NM_015072.5(TTLL5):c.1359G>A (p.Lys453=)
|
|
|
NM_015072.5(TTLL5):c.1372G>C (p.Val458Leu)
|
rs1286182596
|
|
NM_015072.5(TTLL5):c.1395+14C>T
|
|
|
NM_015072.5(TTLL5):c.1395+20A>C
|
|
|
NM_015072.5(TTLL5):c.1396-12T>C
|
|
|
NM_015072.5(TTLL5):c.1396-16C>T
|
|
|
NM_015072.5(TTLL5):c.1396-1G>C
|
|
|
NM_015072.5(TTLL5):c.139G>T (p.Asp47Tyr)
|
rs777806616
|
|
NM_015072.5(TTLL5):c.13A>T (p.Met5Leu)
|
rs1467031622
|
|
NM_015072.5(TTLL5):c.1403T>G (p.Val468Gly)
|
rs2140259750
|
|
NM_015072.5(TTLL5):c.1432C>T (p.Arg478Trp)
|
|
|
NM_015072.5(TTLL5):c.1436G>A (p.Arg479Gln)
|
|
|
NM_015072.5(TTLL5):c.1442G>C (p.Gly481Ala)
|
rs771482604
|
|
NM_015072.5(TTLL5):c.1453A>T (p.Ile485Leu)
|
|
|
NM_015072.5(TTLL5):c.1455A>G (p.Ile485Met)
|
|
|
NM_015072.5(TTLL5):c.1460_1464delinsTC (p.Pro487_Thr488delinsLeu)
|
|
|
NM_015072.5(TTLL5):c.1462A>G (p.Thr488Ala)
|
|
|
NM_015072.5(TTLL5):c.1464A>G (p.Thr488=)
|
rs1186595068
|
|
NM_015072.5(TTLL5):c.1464A>T (p.Thr488=)
|
rs1186595068
|
|
NM_015072.5(TTLL5):c.1476G>A (p.Trp492Ter)
|
|
|
NM_015072.5(TTLL5):c.1482A>G (p.Ile494Met)
|
|
|
NM_015072.5(TTLL5):c.1483T>A (p.Tyr495Asn)
|
rs1594960482
|
|
NM_015072.5(TTLL5):c.1483T>C (p.Tyr495His)
|
|
|
NM_015072.5(TTLL5):c.1487+10C>A
|
rs1406825117
|
|
NM_015072.5(TTLL5):c.1487+13C>G
|
|
|
NM_015072.5(TTLL5):c.1487+24del
|
|
|
NM_015072.5(TTLL5):c.1487+24dup
|
rs200428868
|
|
NM_015072.5(TTLL5):c.1487+8G>A
|
|
|
NM_015072.5(TTLL5):c.1488-13C>A
|
rs2140274638
|
|
NM_015072.5(TTLL5):c.1493A>G (p.Tyr498Cys)
|
rs758716349
|
|
NM_015072.5(TTLL5):c.1493A>T (p.Tyr498Phe)
|
rs758716349
|
|
NM_015072.5(TTLL5):c.1506G>T (p.Lys502Asn)
|
rs950066641
|
|
NM_015072.5(TTLL5):c.1509C>T (p.Thr503=)
|
rs2140274685
|
|
NM_015072.5(TTLL5):c.1519T>G (p.Tyr507Asp)
|
|
|
NM_015072.5(TTLL5):c.1520A>C (p.Tyr507Ser)
|
rs201413053
|
|
NM_015072.5(TTLL5):c.1520A>G (p.Tyr507Cys)
|
rs201413053
|
|
NM_015072.5(TTLL5):c.1550+17C>T
|
|
|
NM_015072.5(TTLL5):c.1550G>A (p.Arg517Lys)
|
rs2140274721
|
|
NM_015072.5(TTLL5):c.1551-2A>G
|
rs1359166382
|
|
NM_015072.5(TTLL5):c.1551-3T>C
|
|
|
NM_015072.5(TTLL5):c.1551-4C>T
|
rs1473312189
|
|
NM_015072.5(TTLL5):c.1558G>A (p.Ala520Thr)
|
|
|
NM_015072.5(TTLL5):c.155del (p.Lys52fs)
|
|
|
NM_015072.5(TTLL5):c.1560dup (p.Asp521Ter)
|
rs1400806789
|
|
NM_015072.5(TTLL5):c.1585G>A (p.Glu529Lys)
|
|
|
NM_015072.5(TTLL5):c.1587G>A (p.Glu529=)
|
|
|
NM_015072.5(TTLL5):c.1592T>C (p.Leu531Pro)
|
rs147617989
|
|
NM_015072.5(TTLL5):c.1594A>C (p.Asn532His)
|
rs554208608
|
|
NM_015072.5(TTLL5):c.1607A>G (p.Lys536Arg)
|
rs1382142246
|
|
NM_015072.5(TTLL5):c.1619C>T (p.Ala540Val)
|
rs1178403095
|
|
NM_015072.5(TTLL5):c.1624T>G (p.Tyr542Asp)
|
rs760056637
|
|
NM_015072.5(TTLL5):c.1627G>T (p.Glu543Ter)
|
rs199882533
|
|
NM_015072.5(TTLL5):c.162C>T (p.Asn54=)
|
|
|
NM_015072.5(TTLL5):c.1634A>T (p.Lys545Met)
|
rs1464081739
|
|
NM_015072.5(TTLL5):c.1637T>C (p.Leu546Pro)
|
|
|
NM_015072.5(TTLL5):c.1642T>C (p.Ser548Pro)
|
|
|
NM_015072.5(TTLL5):c.1644T>C (p.Ser548=)
|
rs2140296882
|
|
NM_015072.5(TTLL5):c.1650G>A (p.Glu550=)
|
|
|
NM_015072.5(TTLL5):c.1665ACG[1] (p.Arg557del)
|
|
|
NM_015072.5(TTLL5):c.1666C>A (p.Arg556=)
|
rs770811029
|
|
NM_015072.5(TTLL5):c.1666C>G (p.Arg556Gly)
|
rs770811029
|
|
NM_015072.5(TTLL5):c.1666C>T (p.Arg556Ter)
|
rs770811029
|
|
NM_015072.5(TTLL5):c.1673G>C (p.Ser558Thr)
|
rs771095455
|
|
NM_015072.5(TTLL5):c.1685G>A (p.Arg562Lys)
|
|
|
NM_015072.5(TTLL5):c.1691T>C (p.Met564Thr)
|
|
|
NM_015072.5(TTLL5):c.1705C>T (p.Pro569Ser)
|
rs764559135
|
|
NM_015072.5(TTLL5):c.1706C>T (p.Pro569Leu)
|
rs1890859098
|
|
NM_015072.5(TTLL5):c.1708+11G>A
|
|
|
NM_015072.5(TTLL5):c.1709-18G>T
|
|
|
NM_015072.5(TTLL5):c.1709-19A>T
|
rs2140299070
|
|
NM_015072.5(TTLL5):c.1709-19_1709-13del
|
|
|
NM_015072.5(TTLL5):c.1709-20T>G
|
|
|
NM_015072.5(TTLL5):c.1709-7T>A
|
rs2359870
|
|
NM_015072.5(TTLL5):c.1709-8_1709-7inv
|
|
|
NM_015072.5(TTLL5):c.1719A>G (p.Gln573=)
|
rs200095377
|
|
NM_015072.5(TTLL5):c.1721C>A (p.Pro574Gln)
|
rs2140299148
|
|
NM_015072.5(TTLL5):c.1734T>C (p.Asn578=)
|
|
|
NM_015072.5(TTLL5):c.1738A>T (p.Lys580Ter)
|
|
|
NM_015072.5(TTLL5):c.174A>G (p.Val58=)
|
|
|
NM_015072.5(TTLL5):c.1766A>G (p.Glu589Gly)
|
|
|
NM_015072.5(TTLL5):c.1773C>A (p.Val591=)
|
rs61741261
|
|
NM_015072.5(TTLL5):c.1782T>C (p.Asp594=)
|
|
|
NM_015072.5(TTLL5):c.1790A>G (p.Asp597Gly)
|
|
|
NM_015072.5(TTLL5):c.1800G>A (p.Gln600=)
|
|
|
NM_015072.5(TTLL5):c.1803G>A (p.Glu601=)
|
rs1333657823
|
|
NM_015072.5(TTLL5):c.1804G>A (p.Ala602Thr)
|
rs752254666
|
|
NM_015072.5(TTLL5):c.181+18C>G
|
|
|
NM_015072.5(TTLL5):c.181+7A>G
|
|
|
NM_015072.5(TTLL5):c.181+9A>G
|
|
|
NM_015072.5(TTLL5):c.1810del (p.Gln604fs)
|
rs1890963211
|
|
NM_015072.5(TTLL5):c.1812G>A (p.Gln604=)
|
|
|
NM_015072.5(TTLL5):c.181G>A (p.Glu61Lys)
|
rs2140090695
|
|
NM_015072.5(TTLL5):c.182-17A>G
|
rs1483184702
|
|
NM_015072.5(TTLL5):c.182-4T>A
|
rs2140117778
|
|
NM_015072.5(TTLL5):c.1821T>C (p.Ser607=)
|
rs763577337
|
|
NM_015072.5(TTLL5):c.1827A>G (p.Gly609=)
|
|
|
NM_015072.5(TTLL5):c.1858C>A (p.Pro620Thr)
|
rs1313446228
|
|
NM_015072.5(TTLL5):c.1873T>G (p.Leu625Val)
|
|
|
NM_015072.5(TTLL5):c.1888C>G (p.Pro630Ala)
|
rs1890964850
|
|
NM_015072.5(TTLL5):c.1897A>T (p.Asn633Tyr)
|
rs141429300
|
|
NM_015072.5(TTLL5):c.1906A>C (p.Lys636Gln)
|
rs760885007
|
|
NM_015072.5(TTLL5):c.1906A>G (p.Lys636Glu)
|
rs760885007
|
|
NM_015072.5(TTLL5):c.190C>A (p.His64Asn)
|
rs1045431257
|
|
NM_015072.5(TTLL5):c.1913G>A (p.Arg638His)
|
rs1399888208
|
|
NM_015072.5(TTLL5):c.1914T>C (p.Arg638=)
|
|
|
NM_015072.5(TTLL5):c.1917A>G (p.Glu639=)
|
|
|
NM_015072.5(TTLL5):c.1924A>G (p.Asn642Asp)
|
rs1286609816
|
|
NM_015072.5(TTLL5):c.1935A>G (p.Gly645=)
|
rs1017236925
|
|
NM_015072.5(TTLL5):c.1937A>C (p.His646Pro)
|
rs1223629458
|
|
NM_015072.5(TTLL5):c.1962G>A (p.Glu654=)
|
|
|
NM_015072.5(TTLL5):c.1970C>T (p.Pro657Leu)
|
rs1890967870
|
|
NM_015072.5(TTLL5):c.200A>G (p.Tyr67Cys)
|
|
|
NM_015072.5(TTLL5):c.2015+17_2015+22del
|
rs2140299424
|
|
NM_015072.5(TTLL5):c.2015+7A>G
|
|
|
NM_015072.5(TTLL5):c.2015G>A (p.Ser672Asn)
|
rs748183829
|
|
NM_015072.5(TTLL5):c.2016-20G>A
|
rs1891334608
|
|
NM_015072.5(TTLL5):c.2016-3T>C
|
rs1566596891
|
|
NM_015072.5(TTLL5):c.2023C>T (p.Gln675Ter)
|
|
|
NM_015072.5(TTLL5):c.2064A>G (p.Gln688=)
|
|
|
NM_015072.5(TTLL5):c.2068C>T (p.Arg690Cys)
|
|
|
NM_015072.5(TTLL5):c.2079A>G (p.Lys693=)
|
rs2140309147
|
|
NM_015072.5(TTLL5):c.2091T>C (p.Gly697=)
|
|
|
NM_015072.5(TTLL5):c.2097G>A (p.Thr699=)
|
|
|
NM_015072.5(TTLL5):c.2100C>A (p.Phe700Leu)
|
|
|
NM_015072.5(TTLL5):c.2106C>T (p.Ala702=)
|
|
|
NM_015072.5(TTLL5):c.2108G>A (p.Ser703Asn)
|
rs1891340387
|
|
NM_015072.5(TTLL5):c.2131_2136+20del
|
|
|
NM_015072.5(TTLL5):c.2136+10T>G
|
|
|
NM_015072.5(TTLL5):c.2136+13T>C
|
|
|
NM_015072.5(TTLL5):c.2136+18G>C
|
|
|
NM_015072.5(TTLL5):c.2136+72del
|
rs57636956
|
|
NM_015072.5(TTLL5):c.2137-16A>T
|
|
|
NM_015072.5(TTLL5):c.2137-17G>A
|
|
|
NM_015072.5(TTLL5):c.2137-18C>T
|
|
|
NM_015072.5(TTLL5):c.2137-20C>T
|
|
|
NM_015072.5(TTLL5):c.2137-5del
|
rs775309945
|
|
NM_015072.5(TTLL5):c.2137-7T>C
|
|
|
NM_015072.5(TTLL5):c.2155C>T (p.Leu719Phe)
|
rs2140317194
|
|
NM_015072.5(TTLL5):c.2159_2160delinsTT (p.Lys720Ile)
|
rs2140317201
|
|
NM_015072.5(TTLL5):c.2176C>T (p.Leu726Phe)
|
rs1224068762
|
|
NM_015072.5(TTLL5):c.2182C>T (p.His728Tyr)
|
rs2140317232
|
|
NM_015072.5(TTLL5):c.2190G>A (p.Leu730=)
|
|
|
NM_015072.5(TTLL5):c.2209C>T (p.Arg737Ter)
|
rs1555344661
|
|
NM_015072.5(TTLL5):c.2215T>A (p.Leu739Met)
|
rs774690827
|
|
NM_015072.5(TTLL5):c.2220A>G (p.Ala740=)
|
|
|
NM_015072.5(TTLL5):c.224G>A (p.Arg75His)
|
rs751047559
|
|
NM_015072.5(TTLL5):c.2251del (p.Gln751fs)
|
|
|
NM_015072.5(TTLL5):c.2261dup (p.Asp754fs)
|
rs1891670149
|
|
NM_015072.5(TTLL5):c.2264T>G (p.Phe755Cys)
|
rs2140317314
|
|
NM_015072.5(TTLL5):c.2284-10C>T
|
rs2140319388
|
|
NM_015072.5(TTLL5):c.2284-5G>C
|
|
|
NM_015072.5(TTLL5):c.2289A>T (p.Thr763=)
|
rs1462462775
|
|
NM_015072.5(TTLL5):c.2290_2291del (p.Glu764fs)
|
rs2140319419
|
|
NM_015072.5(TTLL5):c.2312C>G (p.Ser771Ter)
|
rs886043466
|
|
NM_015072.5(TTLL5):c.2316GAA[1] (p.Lys774del)
|
rs2140319429
|
|
NM_015072.5(TTLL5):c.2328G>A (p.Glu776=)
|
|
|
NM_015072.5(TTLL5):c.2334_2342del (p.Glu778_Glu780del)
|
rs1251545673
|
|
NM_015072.5(TTLL5):c.2349G>A (p.Val783=)
|
rs2140319468
|
|
NM_015072.5(TTLL5):c.2365C>T (p.Gln789Ter)
|
|
|
NM_015072.5(TTLL5):c.2387+20G>A
|
|
|
NM_015072.5(TTLL5):c.2388-19C>T
|
|
|
NM_015072.5(TTLL5):c.2388-1G>C
|
rs1206062558
|
|
NM_015072.5(TTLL5):c.2388-8_2388-6del
|
|
|
NM_015072.5(TTLL5):c.2394T>A (p.Ala798=)
|
|
|
NM_015072.5(TTLL5):c.2406G>A (p.Glu802=)
|
rs2140324726
|
|
NM_015072.5(TTLL5):c.2414C>A (p.Thr805Asn)
|
|
|
NM_015072.5(TTLL5):c.2420A>T (p.Tyr807Phe)
|
|
|
NM_015072.5(TTLL5):c.2442T>C (p.Ala814=)
|
rs2140324758
|
|
NM_015072.5(TTLL5):c.2452C>T (p.Leu818=)
|
|
|
NM_015072.5(TTLL5):c.2478G>A (p.Lys826=)
|
|
|
NM_015072.5(TTLL5):c.2487C>A (p.Asn829Lys)
|
rs1261281488
|
|
NM_015072.5(TTLL5):c.2489A>G (p.Asn830Ser)
|
|
|
NM_015072.5(TTLL5):c.2497G>C (p.Asp833His)
|
|
|
NM_015072.5(TTLL5):c.2501G>T (p.Ser834Ile)
|
rs774808403
|
|
NM_015072.5(TTLL5):c.2515+1G>C
|
|
|
NM_015072.5(TTLL5):c.2516-7A>T
|
rs1892118227
|
|
NM_015072.5(TTLL5):c.2517T>G (p.Asp839Glu)
|
rs1892118713
|
|
NM_015072.5(TTLL5):c.2518C>A (p.His840Asn)
|
rs371166683
|
|
NM_015072.5(TTLL5):c.2522C>T (p.Pro841Leu)
|
rs2140330245
|
|
NM_015072.5(TTLL5):c.2569C>G (p.Gln857Glu)
|
|
|
NM_015072.5(TTLL5):c.2574G>A (p.Thr858=)
|
rs779622224
|
|
NM_015072.5(TTLL5):c.2589T>C (p.Ser863=)
|
rs1440091467
|
|
NM_015072.5(TTLL5):c.258T>C (p.Phe86=)
|
rs2140117874
|
|
NM_015072.5(TTLL5):c.2591A>T (p.Asp864Val)
|
rs1892120478
|
|
NM_015072.5(TTLL5):c.2602+19A>T
|
rs1381455754
|
|
NM_015072.5(TTLL5):c.2602+20C>T
|
rs762514241
|
|
NM_015072.5(TTLL5):c.2602C>T (p.Arg868Ter)
|
|
|
NM_015072.5(TTLL5):c.2603-16G>C
|
rs369628617
|
|
NM_015072.5(TTLL5):c.2603-23TTGTT[2]
|
|
|
NM_015072.5(TTLL5):c.2603-6T>C
|
rs1892161138
|
|
NM_015072.5(TTLL5):c.260_261dup (p.Glu88fs)
|
|
|
NM_015072.5(TTLL5):c.2625A>G (p.Lys875=)
|
|
|
NM_015072.5(TTLL5):c.2630C>T (p.Ala877Val)
|
rs766256432
|
|
NM_015072.5(TTLL5):c.264+18A>G
|
|
|
NM_015072.5(TTLL5):c.264+20C>T
|
rs2140117924
|
|
NM_015072.5(TTLL5):c.2641del (p.Tyr881fs)
|
rs2140331365
|
|
NM_015072.5(TTLL5):c.264A>G (p.Glu88=)
|
|
|
NM_015072.5(TTLL5):c.265-10C>G
|
rs1230146916
|
|
NM_015072.5(TTLL5):c.265-12G>A
|
|
|
NM_015072.5(TTLL5):c.265-12G>C
|
|
|
NM_015072.5(TTLL5):c.265-18C>T
|
|
|
NM_015072.5(TTLL5):c.265-19T>C
|
|
|
NM_015072.5(TTLL5):c.265-3C>G
|
|
|
NM_015072.5(TTLL5):c.265-5del
|
rs2140122495
|
|
NM_015072.5(TTLL5):c.2655C>T (p.Ser885=)
|
|
|
NM_015072.5(TTLL5):c.2657C>G (p.Ser886Cys)
|
|
|
NM_015072.5(TTLL5):c.2661T>C (p.Gly887=)
|
rs1892166476
|
|
NM_015072.5(TTLL5):c.2665A>C (p.Thr889Pro)
|
|
|
NM_015072.5(TTLL5):c.2665A>G (p.Thr889Ala)
|
rs778408194
|
|
NM_015072.5(TTLL5):c.2667T>C (p.Thr889=)
|
|
|
NM_015072.5(TTLL5):c.2690A>G (p.Asn897Ser)
|
rs757665738
|
|
NM_015072.5(TTLL5):c.2706T>C (p.Ser902=)
|
|
|
NM_015072.5(TTLL5):c.2711C>T (p.Thr904Ile)
|
rs768247311
|
|
NM_015072.5(TTLL5):c.2733G>C (p.Gly911=)
|
|
|
NM_015072.5(TTLL5):c.2738G>T (p.Cys913Phe)
|
rs2140331433
|
|
NM_015072.5(TTLL5):c.273A>G (p.Pro91=)
|
|
|
NM_015072.5(TTLL5):c.2751T>C (p.Ser917=)
|
|
|
NM_015072.5(TTLL5):c.2752T>G (p.Leu918Val)
|
rs1892168619
|
|
NM_015072.5(TTLL5):c.275G>A (p.Ser92Asn)
|
rs747929606
|
|
NM_015072.5(TTLL5):c.2760A>C (p.Gln920His)
|
rs765493292
|
|
NM_015072.5(TTLL5):c.2760A>G (p.Gln920=)
|
|
|
NM_015072.5(TTLL5):c.2760A>T (p.Gln920His)
|
rs765493292
|
|
NM_015072.5(TTLL5):c.2795C>T (p.Pro932Leu)
|
rs2140331485
|
|
NM_015072.5(TTLL5):c.2806C>G (p.Leu936Val)
|
|
|
NM_015072.5(TTLL5):c.2812A>T (p.Thr938Ser)
|
rs1004435343
|
|
NM_015072.5(TTLL5):c.2837G>A (p.Cys946Tyr)
|
rs1175617813
|
|
NM_015072.5(TTLL5):c.2841A>G (p.Leu947=)
|
|
|
NM_015072.5(TTLL5):c.2846C>G (p.Pro949Arg)
|
|
|
NM_015072.5(TTLL5):c.2864C>G (p.Pro955Arg)
|
|
|
NM_015072.5(TTLL5):c.287A>G (p.Tyr96Cys)
|
|
|
NM_015072.5(TTLL5):c.2885G>T (p.Arg962Leu)
|
|
|
NM_015072.5(TTLL5):c.2885dup (p.Cys963fs)
|
rs2140331555
|
|
NM_015072.5(TTLL5):c.2890C>T (p.Arg964Ter)
|
rs777359273
|
|
NM_015072.5(TTLL5):c.2892A>T (p.Arg964=)
|
rs1595033317
|
|
NM_015072.5(TTLL5):c.2933G>A (p.Ser978Asn)
|
|
|
NM_015072.5(TTLL5):c.2936C>T (p.Ala979Val)
|
rs2140331610
|
|
NM_015072.5(TTLL5):c.2942A>G (p.His981Arg)
|
rs2140331617
|
|
NM_015072.5(TTLL5):c.2968C>G (p.Pro990Ala)
|
rs2140331655
|
|
NM_015072.5(TTLL5):c.2975C>T (p.Ser992Leu)
|
rs766790509
|
|
NM_015072.5(TTLL5):c.2986+14C>A
|
|
|
NM_015072.5(TTLL5):c.2986+14C>T
|
|
|
NM_015072.5(TTLL5):c.2986+15G>A
|
|
|
NM_015072.5(TTLL5):c.2987-10G>T
|
rs777187943
|
|
NM_015072.5(TTLL5):c.2987-12C>G
|
|
|
NM_015072.5(TTLL5):c.2987-4G>T
|
rs1051974404
|
|
NM_015072.5(TTLL5):c.2991G>A (p.Ser997=)
|
|
|
NM_015072.5(TTLL5):c.2994C>G (p.Cys998Trp)
|
|
|
NM_015072.5(TTLL5):c.2996A>G (p.Tyr999Cys)
|
|
|
NM_015072.5(TTLL5):c.2999T>C (p.Leu1000Pro)
|
rs2140351914
|
|
NM_015072.5(TTLL5):c.3006G>A (p.Lys1002=)
|
|
|
NM_015072.5(TTLL5):c.3019A>T (p.Ile1007Leu)
|
|
|
NM_015072.5(TTLL5):c.301A>C (p.Thr101Pro)
|
rs1469769763
|
|
NM_015072.5(TTLL5):c.3049G>A (p.Ala1017Thr)
|
rs1892808918
|
|
NM_015072.5(TTLL5):c.3077A>C (p.Gln1026Pro)
|
|
|
NM_015072.5(TTLL5):c.3095A>G (p.Glu1032Gly)
|
rs775951384
|
|
NM_015072.5(TTLL5):c.3096A>T (p.Glu1032Asp)
|
rs1396679992
|
|
NM_015072.5(TTLL5):c.3100C>T (p.Gln1034Ter)
|
|
|
NM_015072.5(TTLL5):c.3105G>A (p.Arg1035=)
|
|
|
NM_015072.5(TTLL5):c.3108A>G (p.Leu1036=)
|
|
|
NM_015072.5(TTLL5):c.311A>G (p.His104Arg)
|
rs1884796366
|
|
NM_015072.5(TTLL5):c.3125C>T (p.Ala1042Val)
|
|
|
NM_015072.5(TTLL5):c.3131A>G (p.Gln1044Arg)
|
rs1003579033
|
|
NM_015072.5(TTLL5):c.3134A>G (p.Tyr1045Cys)
|
|
|
NM_015072.5(TTLL5):c.313C>T (p.Leu105=)
|
|
|
NM_015072.5(TTLL5):c.3140C>T (p.Pro1047Leu)
|
|
|
NM_015072.5(TTLL5):c.3144C>G (p.Ser1048=)
|
|
|
NM_015072.5(TTLL5):c.3153C>A (p.Ile1051=)
|
rs2140352043
|
|
NM_015072.5(TTLL5):c.3154A>C (p.Asn1052His)
|
|
|
NM_015072.5(TTLL5):c.3157CTC[1] (p.Leu1054del)
|
|
|
NM_015072.5(TTLL5):c.3159C>T (p.Leu1053=)
|
|
|
NM_015072.5(TTLL5):c.3168A>G (p.Gln1056=)
|
|
|
NM_015072.5(TTLL5):c.3171+19G>A
|
|
|
NM_015072.5(TTLL5):c.3171+9G>T
|
rs2140352083
|
|
NM_015072.5(TTLL5):c.3172-14C>A
|
rs199868150
|
|
NM_015072.5(TTLL5):c.3172-14C>T
|
|
|
NM_015072.5(TTLL5):c.3172-16C>T
|
rs762842146
|
|
NM_015072.5(TTLL5):c.3174A>G (p.Val1058=)
|
|
|
NM_015072.5(TTLL5):c.3177_3180del (p.Thr1059_Asn1060insTer)
|
rs772656461
|
|
NM_015072.5(TTLL5):c.3180C>A (p.Asn1060Lys)
|
|
|
NM_015072.5(TTLL5):c.3193A>C (p.Thr1065Pro)
|
|
|
NM_015072.5(TTLL5):c.3193A>G (p.Thr1065Ala)
|
rs1894738201
|
|
NM_015072.5(TTLL5):c.319C>G (p.Pro107Ala)
|
|
|
NM_015072.5(TTLL5):c.3200T>C (p.Ile1067Thr)
|
rs1329633330
|
|
NM_015072.5(TTLL5):c.3212G>A (p.Ser1071Asn)
|
rs1894738719
|
|
NM_015072.5(TTLL5):c.3234C>T (p.Thr1078=)
|
rs762894054
|
|
NM_015072.5(TTLL5):c.3238C>T (p.Arg1080Ter)
|
|
|
NM_015072.5(TTLL5):c.3239G>A (p.Arg1080Gln)
|
|
|
NM_015072.5(TTLL5):c.3240A>C (p.Arg1080=)
|
|
|
NM_015072.5(TTLL5):c.3245T>A (p.Ile1082Asn)
|
rs1894739838
|
|
NM_015072.5(TTLL5):c.3246C>T (p.Ile1082=)
|
|
|
NM_015072.5(TTLL5):c.3253C>A (p.Pro1085Thr)
|
|
|
NM_015072.5(TTLL5):c.3297C>T (p.Pro1099=)
|
|
|
NM_015072.5(TTLL5):c.331C>A (p.Arg111Ser)
|
rs761381633
|
|
NM_015072.5(TTLL5):c.3326G>A (p.Arg1109Lys)
|
|
|
NM_015072.5(TTLL5):c.3326G>C (p.Arg1109Thr)
|
|
|
NM_015072.5(TTLL5):c.3327-20C>T
|
|
|
NM_015072.5(TTLL5):c.3327-7_3327-3del
|
rs2030226103
|
|
NM_015072.5(TTLL5):c.3329del (p.Ser1110fs)
|
rs759929075
|
|
NM_015072.5(TTLL5):c.332G>A (p.Arg111His)
|
rs151197710
|
|
NM_015072.5(TTLL5):c.3333G>A (p.Leu1111=)
|
|
|
NM_015072.5(TTLL5):c.3333G>C (p.Leu1111=)
|
|
|
NM_015072.5(TTLL5):c.3339_3340del (p.Gly1115fs)
|
rs1595168879
|
|
NM_015072.5(TTLL5):c.333C>T (p.Arg111=)
|
|
|
NM_015072.5(TTLL5):c.3344dup (p.Phe1116fs)
|
rs2139945350
|
|
NM_015072.5(TTLL5):c.3374_3382del (p.Asn1125_Tyr1127del)
|
rs779761398
|
|
NM_015072.5(TTLL5):c.337C>G (p.Leu113Val)
|
rs2140122580
|
|
NM_015072.5(TTLL5):c.338T>C (p.Leu113Pro)
|
rs2140122584
|
|
NM_015072.5(TTLL5):c.338T>G (p.Leu113Arg)
|
|
|
NM_015072.5(TTLL5):c.3393del (p.Val1133fs)
|
rs2030231685
|
|
NM_015072.5(TTLL5):c.3394G>A (p.Gly1132Arg)
|
|
|
NM_015072.5(TTLL5):c.3396G>A (p.Gly1132=)
|
|
|
NM_015072.5(TTLL5):c.3401del (p.Val1134fs)
|
|
|
NM_015072.5(TTLL5):c.3409C>T (p.His1137Tyr)
|
|
|
NM_015072.5(TTLL5):c.3410A>C (p.His1137Pro)
|
rs746857132
|
|
NM_015072.5(TTLL5):c.3414G>C (p.Lys1138Asn)
|
|
|
NM_015072.5(TTLL5):c.3423C>G (p.Pro1141=)
|
rs2139945572
|
|
NM_015072.5(TTLL5):c.342T>G (p.Ser114=)
|
|
|
NM_015072.5(TTLL5):c.3459G>A (p.Gln1153=)
|
rs2139945657
|
|
NM_015072.5(TTLL5):c.3474A>C (p.Gln1158His)
|
rs2139945684
|
|
NM_015072.5(TTLL5):c.3487C>T (p.Arg1163Trp)
|
rs199613904
|
|
NM_015072.5(TTLL5):c.3494_3495delinsAT (p.Leu1165His)
|
rs2030236549
|
|
NM_015072.5(TTLL5):c.3496C>G (p.Leu1166Val)
|
rs577379721
|
|
NM_015072.5(TTLL5):c.3496C>T (p.Leu1166=)
|
|
|
NM_015072.5(TTLL5):c.349C>G (p.Gln117Glu)
|
rs140479826
|
|
NM_015072.5(TTLL5):c.3505_3522del (p.Ser1169_Gln1174del)
|
rs1390638454
|
|
NM_015072.5(TTLL5):c.3522+17C>G
|
|
|
NM_015072.5(TTLL5):c.3522+18T>C
|
|
|
NM_015072.5(TTLL5):c.3522+73G>A
|
rs867363324
|
|
NM_015072.5(TTLL5):c.3522+73_3522+74insAAAAAAAA
|
rs869278134
|
|
NM_015072.5(TTLL5):c.3522+74_3522+75insA
|
rs1298428665
|
|
NM_015072.5(TTLL5):c.3523-13T>C
|
|
|
NM_015072.5(TTLL5):c.3523-19T>G
|
|
|
NM_015072.5(TTLL5):c.3523-20T>G
|
rs2140023739
|
|
NM_015072.5(TTLL5):c.3523-4G>A
|
rs756826932
|
|
NM_015072.5(TTLL5):c.3523-4G>T
|
rs756826932
|
|
NM_015072.5(TTLL5):c.3523-5del
|
rs762310604
|
|
NM_015072.5(TTLL5):c.3523-5dup
|
rs762310604
|
|
NM_015072.5(TTLL5):c.3523G>T (p.Ala1175Ser)
|
|
|
NM_015072.5(TTLL5):c.3525A>G (p.Ala1175=)
|
|
|
NM_015072.5(TTLL5):c.3536G>A (p.Ser1179Asn)
|
|
|
NM_015072.5(TTLL5):c.3543A>G (p.Thr1181=)
|
|
|
NM_015072.5(TTLL5):c.3543A>T (p.Thr1181=)
|
rs148843544
|
|
NM_015072.5(TTLL5):c.3546A>G (p.Leu1182=)
|
|
|
NM_015072.5(TTLL5):c.3548C>G (p.Pro1183Arg)
|
|
|
NM_015072.5(TTLL5):c.3552del (p.Ser1185fs)
|
rs2140023956
|
|
NM_015072.5(TTLL5):c.3555C>T (p.Ser1185=)
|
|
|
NM_015072.5(TTLL5):c.355G>A (p.Val119Ile)
|
rs1884797826
|
|
NM_015072.5(TTLL5):c.3560T>C (p.Leu1187Ser)
|
|
|
NM_015072.5(TTLL5):c.3564G>T (p.Trp1188Cys)
|
|
|
NM_015072.5(TTLL5):c.3579_3583dup (p.Gly1195fs)
|
rs760158148
|
|
NM_015072.5(TTLL5):c.3602C>T (p.Ala1201Val)
|
|
|
NM_015072.5(TTLL5):c.361C>T (p.His121Tyr)
|
|
|
NM_015072.5(TTLL5):c.3631C>G (p.Leu1211Val)
|
rs779153789
|
|
NM_015072.5(TTLL5):c.3631C>T (p.Leu1211=)
|
|
|
NM_015072.5(TTLL5):c.365T>G (p.Phe122Cys)
|
|
|
NM_015072.5(TTLL5):c.365_366del (p.Phe122fs)
|
rs2140122597
|
|
NM_015072.5(TTLL5):c.3663T>C (p.Ser1221=)
|
rs2140024156
|
|
NM_015072.5(TTLL5):c.3667G>A (p.Ala1223Thr)
|
rs10130991
|
|
NM_015072.5(TTLL5):c.3667G>T (p.Ala1223Ser)
|
rs10130991
|
|
NM_015072.5(TTLL5):c.366T>A (p.Phe122Leu)
|
|
|
NM_015072.5(TTLL5):c.3688C>T (p.Pro1230Ser)
|
|
|
NM_015072.5(TTLL5):c.3706G>A (p.Val1236Met)
|
|
|
NM_015072.5(TTLL5):c.371+9C>T
|
rs1205402984
|
|
NM_015072.5(TTLL5):c.371G>A (p.Arg124Lys)
|
|
|
NM_015072.5(TTLL5):c.372-11T>G
|
|
|
NM_015072.5(TTLL5):c.3720A>G (p.Ala1240=)
|
rs1245336874
|
|
NM_015072.5(TTLL5):c.3726C>T (p.Ser1242=)
|
|
|
NM_015072.5(TTLL5):c.3740+19A>C
|
|
|
NM_015072.5(TTLL5):c.3741-12T>A
|
|
|
NM_015072.5(TTLL5):c.3744dup (p.Ser1249fs)
|
rs753057666
|
|
NM_015072.5(TTLL5):c.3773T>C (p.Leu1258Pro)
|
rs1249204313
|
|
NM_015072.5(TTLL5):c.3778A>G (p.Ser1260Gly)
|
rs770500674
|
|
NM_015072.5(TTLL5):c.3780C>A (p.Ser1260Arg)
|
|
|
NM_015072.5(TTLL5):c.3794C>T (p.Ala1265Val)
|
|
|
NM_015072.5(TTLL5):c.3804G>A (p.Val1268=)
|
|
|
NM_015072.5(TTLL5):c.3805C>T (p.Pro1269Ser)
|
|
|
NM_015072.5(TTLL5):c.3806C>T (p.Pro1269Leu)
|
|
|
NM_015072.5(TTLL5):c.3812C>A (p.Thr1271Asn)
|
rs1566652888
|
|
NM_015072.5(TTLL5):c.3812C>G (p.Thr1271Ser)
|
rs1566652888
|
|
NM_015072.5(TTLL5):c.3822A>G (p.Thr1274=)
|
rs2032954310
|
|
NM_015072.5(TTLL5):c.3823+7G>A
|
|
|
NM_015072.5(TTLL5):c.3824-17G>T
|
|
|
NM_015072.5(TTLL5):c.3824-20G>C
|
rs755669701
|
|
NM_015072.5(TTLL5):c.3824-2A>G
|
rs1595333668
|
|
NM_015072.5(TTLL5):c.3824-3C>T
|
rs2035054337
|
|
NM_015072.5(TTLL5):c.3824-7T>G
|
rs2035054244
|
|
NM_015072.5(TTLL5):c.3824-8T>C
|
|
|
NM_015072.5(TTLL5):c.3834C>A (p.His1278Gln)
|
rs1398956929
|
|
NM_015072.5(TTLL5):c.3841A>T (p.Ile1281Leu)
|
rs1320365250
|
|
NM_015072.5(TTLL5):c.399A>G (p.Arg133=)
|
|
|
NM_015072.5(TTLL5):c.401del (p.Leu134fs)
|
rs587777470
|
|
NM_015072.5(TTLL5):c.410dup (p.Asn137fs)
|
|
|
NM_015072.5(TTLL5):c.418C>A (p.Arg140=)
|
rs1411713248
|
|
NM_015072.5(TTLL5):c.418C>G (p.Arg140Gly)
|
rs1411713248
|
|
NM_015072.5(TTLL5):c.419G>A (p.Arg140Gln)
|
rs146900909
|
|
NM_015072.5(TTLL5):c.434A>C (p.His145Pro)
|
rs776212314
|
|
NM_015072.5(TTLL5):c.454A>G (p.Ile152Val)
|
rs1315241372
|
|
NM_015072.5(TTLL5):c.456C>T (p.Ile152=)
|
rs2140136746
|
|
NM_015072.5(TTLL5):c.485A>T (p.Glu162Val)
|
rs1026058794
|
|
NM_015072.5(TTLL5):c.489C>T (p.Tyr163=)
|
|
|
NM_015072.5(TTLL5):c.490G>T (p.Ala164Ser)
|
rs143151165
|
|
NM_015072.5(TTLL5):c.4C>G (p.Pro2Ala)
|
rs745443275
|
|
NM_015072.5(TTLL5):c.500G>A (p.Cys167Tyr)
|
|
|
NM_015072.5(TTLL5):c.502+12A>G
|
rs1304877484
|
|
NM_015072.5(TTLL5):c.503-13A>G
|
rs1886082268
|
|
NM_015072.5(TTLL5):c.503-19C>T
|
rs2140155100
|
|
NM_015072.5(TTLL5):c.521G>C (p.Arg174Pro)
|
rs141614130
|
|
NM_015072.5(TTLL5):c.521_527del (p.Arg174fs)
|
|
|
NM_015072.5(TTLL5):c.525dup (p.Pro176fs)
|
|
|
NM_015072.5(TTLL5):c.52G>A (p.Asp18Asn)
|
|
|
NM_015072.5(TTLL5):c.535G>A (p.Val179Ile)
|
rs1886084547
|
|
NM_015072.5(TTLL5):c.541C>G (p.Pro181Ala)
|
rs1886084675
|
|
NM_015072.5(TTLL5):c.561G>A (p.Gly187=)
|
rs1449080948
|
|
NM_015072.5(TTLL5):c.561del (p.Arg188fs)
|
|
|
NM_015072.5(TTLL5):c.561dup (p.Arg188fs)
|
|
|
NM_015072.5(TTLL5):c.56AGG[1] (p.Glu20del)
|
|
|
NM_015072.5(TTLL5):c.578T>G (p.Ile193Ser)
|
rs1293580959
|
|
NM_015072.5(TTLL5):c.581A>G (p.Asn194Ser)
|
rs1886086138
|
|
NM_015072.5(TTLL5):c.585+2_585+11del
|
rs2140155252
|
|
NM_015072.5(TTLL5):c.585T>C (p.Asn195=)
|
|
|
NM_015072.5(TTLL5):c.586-4A>G
|
|
|
NM_015072.5(TTLL5):c.595A>T (p.Ile199Phe)
|
rs760333318
|
|
NM_015072.5(TTLL5):c.60G>T (p.Glu20Asp)
|
rs2140074461
|
|
NM_015072.5(TTLL5):c.615T>C (p.Ile205=)
|
|
|
NM_015072.5(TTLL5):c.616T>C (p.Leu206=)
|
|
|
NM_015072.5(TTLL5):c.619G>A (p.Val207Ile)
|
|
|
NM_015072.5(TTLL5):c.626G>T (p.Arg209Leu)
|
rs781617968
|
|
NM_015072.5(TTLL5):c.630C>A (p.Tyr210Ter)
|
rs745934202
|
|
NM_015072.5(TTLL5):c.639C>A (p.Asn213Lys)
|
rs769924591
|
|
NM_015072.5(TTLL5):c.645G>T (p.Leu215=)
|
|
|
NM_015072.5(TTLL5):c.649A>G (p.Ile217Val)
|
|
|
NM_015072.5(TTLL5):c.654T>C (p.Asp218=)
|
rs953769070
|
|
NM_015072.5(TTLL5):c.655+9T>C
|
rs2140171905
|
|
NM_015072.5(TTLL5):c.656-3del
|
rs751439234
|
|
NM_015072.5(TTLL5):c.656-3dup
|
rs751439234
|
|
NM_015072.5(TTLL5):c.656-5_656-3del
|
rs751439234
|
|
NM_015072.5(TTLL5):c.663G>T (p.Lys221Asn)
|
|
|
NM_015072.5(TTLL5):c.669C>T (p.Asp223=)
|
|
|
NM_015072.5(TTLL5):c.670G>C (p.Val224Leu)
|
|
|
NM_015072.5(TTLL5):c.674G>A (p.Arg225His)
|
|
|
NM_015072.5(TTLL5):c.681T>C (p.Tyr227=)
|
rs1886754638
|
|
NM_015072.5(TTLL5):c.688G>A (p.Val230Met)
|
|
|
NM_015072.5(TTLL5):c.716A>G (p.Tyr239Cys)
|
|
|
NM_015072.5(TTLL5):c.717T>C (p.Tyr239=)
|
|
|
NM_015072.5(TTLL5):c.720_721del (p.Leu240_Tyr241insTer)
|
rs754950305
|
|
NM_015072.5(TTLL5):c.721T>C (p.Tyr241His)
|
|
|
NM_015072.5(TTLL5):c.722A>G (p.Tyr241Cys)
|
|
|
NM_015072.5(TTLL5):c.733T>C (p.Leu245=)
|
|
|
NM_015072.5(TTLL5):c.74+18T>C
|
|
|
NM_015072.5(TTLL5):c.740+11G>A
|
|
|
NM_015072.5(TTLL5):c.740+14T>C
|
|
|
NM_015072.5(TTLL5):c.741-10C>T
|
|
|
NM_015072.5(TTLL5):c.741-19C>G
|
|
|
NM_015072.5(TTLL5):c.741-1G>A
|
rs1887576038
|
|
NM_015072.5(TTLL5):c.741-4T>C
|
rs2140197676
|
|
NM_015072.5(TTLL5):c.741-5A>G
|
|
|
NM_015072.5(TTLL5):c.75-10G>A
|
|
|
NM_015072.5(TTLL5):c.75-12_75-11del
|
|
|
NM_015072.5(TTLL5):c.75-2A>G
|
rs1314926139
|
|
NM_015072.5(TTLL5):c.75-7G>A
|
|
|
NM_015072.5(TTLL5):c.753G>A (p.Val251=)
|
rs2140197703
|
|
NM_015072.5(TTLL5):c.756A>G (p.Arg252=)
|
|
|
NM_015072.5(TTLL5):c.763C>G (p.Gln255Glu)
|
rs2140197725
|
|
NM_015072.5(TTLL5):c.772A>C (p.Lys258Gln)
|
rs1887576900
|
|
NM_015072.5(TTLL5):c.77A>G (p.Asp26Gly)
|
|
|
NM_015072.5(TTLL5):c.787C>T (p.Gln263Ter)
|
|
|
NM_015072.5(TTLL5):c.789_793del (p.Gln263fs)
|
|
|
NM_015072.5(TTLL5):c.831A>G (p.Gly277=)
|
|
|
NM_015072.5(TTLL5):c.837C>T (p.Tyr279=)
|
|
|
NM_015072.5(TTLL5):c.842+1G>A
|
rs1887579263
|
|
NM_015072.5(TTLL5):c.842+4C>G
|
rs1018754407
|
|
NM_015072.5(TTLL5):c.843-14_843-12del
|
rs1478882119
|
|
NM_015072.5(TTLL5):c.843-7G>A
|
rs2140202483
|
|
NM_015072.5(TTLL5):c.849C>T (p.Asp283=)
|
|
|
NM_015072.5(TTLL5):c.856G>A (p.Glu286Lys)
|
rs1202712728
|
|
NM_015072.5(TTLL5):c.863A>T (p.Glu288Val)
|
rs2140202527
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NM_015072.5(TTLL5):c.865G>A (p.Asp289Asn)
|
rs754224109
|
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NM_015072.5(TTLL5):c.867T>C (p.Asp289=)
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NM_015072.5(TTLL5):c.873A>C (p.Gly291=)
|
rs2140202544
|
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NM_015072.5(TTLL5):c.885C>A (p.Ser295Arg)
|
rs1887726658
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NM_015072.5(TTLL5):c.895A>G (p.Met299Val)
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NM_015072.5(TTLL5):c.909G>A (p.Leu303=)
|
rs2140202584
|
|
NM_015072.5(TTLL5):c.922A>C (p.Arg308=)
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NM_015072.5(TTLL5):c.930A>C (p.Thr310=)
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NM_015072.5(TTLL5):c.935-10T>A
|
rs772154589
|
|
NM_015072.5(TTLL5):c.935-10T>C
|
|
|
NM_015072.5(TTLL5):c.938T>G (p.Leu313Trp)
|
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|
NM_015072.5(TTLL5):c.940A>G (p.Met314Val)
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NM_015072.5(TTLL5):c.951A>G (p.Val317=)
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NM_015072.5(TTLL5):c.957C>A (p.Asp319Glu)
|
rs765689042
|
|
NM_015072.5(TTLL5):c.957C>T (p.Asp319=)
|
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|
NM_015072.5(TTLL5):c.95G>A (p.Trp32Ter)
|
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|
NM_015072.5(TTLL5):c.960G>A (p.Leu320=)
|
rs775691366
|
|
NM_015072.5(TTLL5):c.960G>C (p.Leu320=)
|
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|
NM_015072.5(TTLL5):c.968_973del (p.Lys323_Thr324del)
|
rs926135196
|
|
NM_015072.5(TTLL5):c.976del (p.Ile326fs)
|
rs1887780037
|
|
NM_015072.5(TTLL5):c.987A>T (p.Glu329Asp)
|
rs1555384338
|
|
NM_015072.5(TTLL5):c.989T>A (p.Leu330Gln)
|
rs765872484
|
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NM_015072.5(TTLL5):c.992C>T (p.Ala331Val)
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|
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NM_015072.5(TTLL5):c.993T>C (p.Ala331=)
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NM_015072.5(TTLL5):c.9C>G (p.Ile3Met)
|
rs755802095
|
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NM_015072.5(TTLL5):c.9C>T (p.Ile3=)
|
rs755802095
|
|