|
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)
|
rs68080670
|
0.01276
|
|
NM_001267550.2(TTN):c.7469G>A (p.Arg2490His)
|
rs148920986
|
0.00010
|
|
NM_001267550.2(TTN):c.39895+1G>T
|
rs749931280
|
0.00006
|
|
NM_001267550.2(TTN):c.39974-11T>G
|
rs758597536
|
0.00006
|
|
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)
|
rs72646846
|
0.00006
|
|
NM_001267550.2(TTN):c.36310G>T (p.Glu12104Ter)
|
rs1455879402
|
0.00005
|
|
NM_001267550.2(TTN):c.40558+1G>A
|
rs368219776
|
0.00004
|
|
NM_001267550.2(TTN):c.40723+1G>T
|
rs371770198
|
0.00003
|
|
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter)
|
rs727504198
|
0.00003
|
|
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs)
|
rs587780494
|
0.00003
|
|
NM_001267550.2(TTN):c.77185A>T (p.Lys25729Ter)
|
rs542074139
|
0.00003
|
|
NM_001267550.2(TTN):c.8902+1G>A
|
rs770392096
|
0.00003
|
|
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg)
|
rs375159973
|
0.00002
|
|
NM_001267550.2(TTN):c.107628del (p.Asn35876fs)
|
rs766624923
|
0.00002
|
|
NM_001267550.2(TTN):c.16621+1G>T
|
rs761965693
|
0.00002
|
|
NM_001267550.2(TTN):c.34855+1G>A
|
rs377319699
|
0.00002
|
|
NM_001267550.2(TTN):c.35797+1G>T
|
rs917175304
|
0.00002
|
|
NM_001267550.2(TTN):c.52406-2A>C
|
rs753798236
|
0.00002
|
|
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter)
|
rs745376275
|
0.00002
|
|
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter)
|
rs1179247052
|
0.00002
|
|
NM_001256850.1(TTN):c.51809dup (p.Asp17270fs)
|
rs397517626
|
0.00001
|
|
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter)
|
rs1064793560
|
0.00001
|
|
NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter)
|
rs1260821931
|
0.00001
|
|
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter)
|
rs766265889
|
0.00001
|
|
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter)
|
rs794729305
|
0.00001
|
|
NM_001267550.2(TTN):c.10303+2T>C
|
rs371596417
|
0.00001
|
|
NM_001267550.2(TTN):c.103408G>T (p.Glu34470Ter)
|
rs769023413
|
0.00001
|
|
NM_001267550.2(TTN):c.103771C>T (p.Arg34591Ter)
|
rs967542291
|
0.00001
|
|
NM_001267550.2(TTN):c.103945C>T (p.Arg34649Ter)
|
rs995029896
|
0.00001
|
|
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter)
|
rs727504184
|
0.00001
|
|
NM_001267550.2(TTN):c.104399del (p.Arg34800fs)
|
rs747662439
|
0.00001
|
|
NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter)
|
rs750519430
|
0.00001
|
|
NM_001267550.2(TTN):c.104827C>T (p.Arg34943Ter)
|
rs1202115268
|
0.00001
|
|
NM_001267550.2(TTN):c.104947C>T (p.Gln34983Ter)
|
rs991187915
|
0.00001
|
|
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter)
|
rs886043924
|
0.00001
|
|
NM_001267550.2(TTN):c.106114_106115dup (p.Leu35372fs)
|
rs1394131775
|
0.00001
|
|
NM_001267550.2(TTN):c.106279C>T (p.Gln35427Ter)
|
rs1285334952
|
0.00001
|
|
NM_001267550.2(TTN):c.106532-2A>C
|
rs753610150
|
0.00001
|
|
NM_001267550.2(TTN):c.107219dup (p.Pro35741fs)
|
rs1427595954
|
0.00001
|
|
NM_001267550.2(TTN):c.107284C>T (p.Arg35762Ter)
|
rs1477669354
|
0.00001
|
|
NM_001267550.2(TTN):c.21142C>T (p.Arg7048Ter)
|
rs770579313
|
0.00001
|
|
NM_001267550.2(TTN):c.21961G>A (p.Glu7321Lys)
|
rs2078691261
|
0.00001
|
|
NM_001267550.2(TTN):c.22633C>T (p.Arg7545Ter)
|
rs764687326
|
0.00001
|
|
NM_001267550.2(TTN):c.22930C>T (p.Arg7644Ter)
|
rs1340940049
|
0.00001
|
|
NM_001267550.2(TTN):c.2371-1G>A
|
rs755365744
|
0.00001
|
|
NM_001267550.2(TTN):c.28739C>A (p.Ser9580Ter)
|
rs375212459
|
0.00001
|
|
NM_001267550.2(TTN):c.30223+1G>A
|
rs556408709
|
0.00001
|
|
NM_001267550.2(TTN):c.32011+1G>T
|
rs1471534246
|
0.00001
|
|
NM_001267550.2(TTN):c.32392+1G>A
|
rs1424314036
|
0.00001
|
|
NM_001267550.2(TTN):c.32471-1G>A
|
rs371725574
|
0.00001
|
|
NM_001267550.2(TTN):c.32555-1G>A
|
rs932486601
|
0.00001
|
|
NM_001267550.2(TTN):c.33910+1G>T
|
rs893407745
|
0.00001
|
|
NM_001267550.2(TTN):c.34612+1G>A
|
rs577363824
|
0.00001
|
|
NM_001267550.2(TTN):c.34837G>T (p.Glu11613Ter)
|
rs766945794
|
0.00001
|
|
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter)
|
rs878854299
|
0.00001
|
|
NM_001267550.2(TTN):c.36448+2T>C
|
rs1426178024
|
0.00001
|
|
NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter)
|
rs767120669
|
0.00001
|
|
NM_001267550.2(TTN):c.42214C>T (p.Arg14072Ter)
|
rs794729258
|
0.00001
|
|
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)
|
rs140743001
|
0.00001
|
|
NM_001267550.2(TTN):c.48015_48016del (p.Asp16007fs)
|
rs794729319
|
0.00001
|
|
NM_001267550.2(TTN):c.48160+1G>C
|
rs779498825
|
0.00001
|
|
NM_001267550.2(TTN):c.48527G>A (p.Trp16176Ter)
|
rs869312048
|
0.00001
|
|
NM_001267550.2(TTN):c.49346-2A>T
|
rs794729263
|
0.00001
|
|
NM_001267550.2(TTN):c.49870C>T (p.Arg16624Ter)
|
rs1471414348
|
0.00001
|
|
NM_001267550.2(TTN):c.51986_51987del (p.Lys17329fs)
|
rs1195974666
|
0.00001
|
|
NM_001267550.2(TTN):c.52021C>T (p.Arg17341Ter)
|
rs926741242
|
0.00001
|
|
NM_001267550.2(TTN):c.53743C>T (p.Arg17915Ter)
|
rs753333359
|
0.00001
|
|
NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter)
|
rs768431507
|
0.00001
|
|
NM_001267550.2(TTN):c.54418C>T (p.Arg18140Ter)
|
rs747236787
|
0.00001
|
|
NM_001267550.2(TTN):c.55300C>T (p.Gln18434Ter)
|
rs1284529298
|
0.00001
|
|
NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter)
|
rs1483931960
|
0.00001
|
|
NM_001267550.2(TTN):c.56051-1G>A
|
rs1385817640
|
0.00001
|
|
NM_001267550.2(TTN):c.56648-1G>A
|
rs769912484
|
0.00001
|
|
NM_001267550.2(TTN):c.57127del (p.Glu19042_Val19043insTer)
|
rs2052216955
|
0.00001
|
|
NM_001267550.2(TTN):c.57378G>A (p.Trp19126Ter)
|
rs1192054216
|
0.00001
|
|
NM_001267550.2(TTN):c.57603C>A (p.Cys19201Ter)
|
rs1418030810
|
0.00001
|
|
NM_001267550.2(TTN):c.57849del (p.Val19284fs)
|
rs776385412
|
0.00001
|
|
NM_001267550.2(TTN):c.58195C>T (p.Arg19399Ter)
|
rs768073446
|
0.00001
|
|
NM_001267550.2(TTN):c.58732+2T>C
|
rs869312054
|
0.00001
|
|
NM_001267550.2(TTN):c.59460G>A (p.Trp19820Ter)
|
rs1250461669
|
0.00001
|
|
NM_001267550.2(TTN):c.59693G>A (p.Trp19898Ter)
|
rs974671846
|
0.00001
|
|
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter)
|
rs797044692
|
0.00001
|
|
NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter)
|
rs878854324
|
0.00001
|
|
NM_001267550.2(TTN):c.62424del (p.Asp20808fs)
|
rs1250302805
|
0.00001
|
|
NM_001267550.2(TTN):c.63370C>T (p.Gln21124Ter)
|
rs1341948399
|
0.00001
|
|
NM_001267550.2(TTN):c.6355G>T (p.Glu2119Ter)
|
rs869312098
|
0.00001
|
|
NM_001267550.2(TTN):c.66160+2T>C
|
rs753146898
|
0.00001
|
|
NM_001267550.2(TTN):c.67348+1G>A
|
rs758279518
|
0.00001
|
|
NM_001267550.2(TTN):c.67349-2A>C
|
rs753948675
|
0.00001
|
|
NM_001267550.2(TTN):c.67636+2T>C
|
rs1575872984
|
0.00001
|
|
NM_001267550.2(TTN):c.68224+2T>C
|
rs1321711553
|
0.00001
|
|
NM_001267550.2(TTN):c.68527+1G>C
|
rs766984722
|
0.00001
|
|
NM_001267550.2(TTN):c.68885_68888dup (p.Ile22964fs)
|
rs757603460
|
0.00001
|
|
NM_001267550.2(TTN):c.69420del (p.Gly23141fs)
|
rs1330960948
|
0.00001
|
|
NM_001267550.2(TTN):c.73846C>T (p.Arg24616Ter)
|
rs794729284
|
0.00001
|
|
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter)
|
rs545954490
|
0.00001
|
|
NM_001267550.2(TTN):c.77145dup (p.Ser25716fs)
|
rs1205409465
|
0.00001
|
|
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter)
|
rs794729289
|
0.00001
|
|
NM_001267550.2(TTN):c.78979C>T (p.Arg26327Ter)
|
rs1419374180
|
0.00001
|
|
NM_001267550.2(TTN):c.79882C>T (p.Arg26628Ter)
|
rs1373472758
|
0.00001
|
|
NM_001267550.2(TTN):c.82240C>T (p.Arg27414Ter)
|
rs766840243
|
0.00001
|
|
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter)
|
rs1575649368
|
0.00001
|
|
NM_001267550.2(TTN):c.83064_83073del (p.Ala27689fs)
|
rs794729351
|
0.00001
|
|
NM_001267550.2(TTN):c.84255C>A (p.Cys28085Ter)
|
rs772842119
|
0.00001
|
|
NM_001267550.2(TTN):c.86335C>T (p.Arg28779Ter)
|
rs1060500525
|
0.00001
|
|
NM_001267550.2(TTN):c.86528T>G (p.Leu28843Ter)
|
rs752378132
|
0.00001
|
|
NM_001267550.2(TTN):c.88837A>T (p.Lys29613Ter)
|
rs794729300
|
0.00001
|
|
NM_001267550.2(TTN):c.89220_89221insT (p.Ile29741fs)
|
rs1064794472
|
0.00001
|
|
NM_001267550.2(TTN):c.90697C>T (p.Arg30233Ter)
|
rs1553539391
|
0.00001
|
|
NM_001267550.2(TTN):c.93139C>T (p.Arg31047Ter)
|
rs1416323929
|
0.00001
|
|
NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter)
|
rs869312121
|
0.00001
|
|
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)
|
rs753334568
|
0.00001
|
|
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs)
|
rs794729365
|
0.00001
|
|
NM_139343.3(BIN1):c.1461+1G>A
|
rs764951306
|
0.00001
|
|
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys)
|
rs777176261
|
0.00001
|
|
GRCh37/hg19 2q31.2(chr2:179403525-179655493)
|
|
|
|
NC_000002.11:g.(?_179296824)_(179518254_?)del
|
|
|
|
NC_000002.11:g.(?_179405446)_(179408110_?)del
|
|
|
|
NC_000002.11:g.(?_179407899)_(179439276_?)del
|
|
|
|
NC_000002.11:g.(?_179419384)_(179419787_?)dup
|
|
|
|
NC_000002.11:g.(?_179419793)_(179515001_?)del
|
|
|
|
NC_000002.11:g.(?_179425803)_(179544953_?)del
|
|
|
|
NC_000002.11:g.(?_179425856)_(179596206_?)del
|
|
|
|
NC_000002.11:g.(?_179426336)_(179569921_?)del
|
|
|
|
NC_000002.11:g.(?_179443318)_(179669369_?)del
|
|
|
|
NC_000002.12:g.(?_178528254)_(178544135_?)del
|
|
|
|
NM_001256850.1(TTN):c.86916dup (p.Val28973fs)
|
rs730880365
|
|
|
NM_001267550.2(TTN):c.100018_100022dup (p.Leu33341fs)
|
|
|
|
NM_001267550.2(TTN):c.100026_100030del (p.Ser33344fs)
|
rs727503537
|
|
|
NM_001267550.2(TTN):c.100105C>T (p.Gln33369Ter)
|
rs1553503201
|
|
|
NM_001267550.2(TTN):c.100112del (p.Thr33371fs)
|
|
|
|
NM_001267550.2(TTN):c.100127_100151dup (p.Ile33385fs)
|
rs1553503113
|
|
|
NM_001267550.2(TTN):c.100135G>T (p.Glu33379Ter)
|
rs1691881913
|
|
|
NM_001267550.2(TTN):c.100161del (p.Ser33388fs)
|
|
|
|
NM_001267550.2(TTN):c.100169_100170del (p.Pro33389_Phe33390insTer)
|
|
|
|
NM_001267550.2(TTN):c.100171+1_100171+2insAAGAGTCCATTTGGAGGCAGGAAAATCGCTTCAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCACCCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
|
|
|
|
NM_001267550.2(TTN):c.100172-1G>C
|
rs2154137558
|
|
|
NM_001267550.2(TTN):c.100201_100205del (p.Ile33401fs)
|
|
|
|
NM_001267550.2(TTN):c.100229_100233del (p.Val33410fs)
|
|
|
|
NM_001267550.2(TTN):c.100325del (p.Val33442fs)
|
rs1691525574
|
|
|
NM_001267550.2(TTN):c.100342C>T (p.Arg33448Ter)
|
|
|
|
NM_001267550.2(TTN):c.100367_100368insGA (p.Asn33456fs)
|
|
|
|
NM_001267550.2(TTN):c.100367_100368insT (p.Leu33457fs)
|
rs2154137420
|
|
|
NM_001267550.2(TTN):c.100367del (p.Asn33456fs)
|
rs2154137422
|
|
|
NM_001267550.2(TTN):c.100369del (p.Ile33458fs)
|
rs2154137417
|
|
|
NM_001267550.2(TTN):c.100390G>T (p.Glu33464Ter)
|
rs374920916
|
|
|
NM_001267550.2(TTN):c.100590C>G (p.Tyr33530Ter)
|
rs1489832770
|
|
|
NM_001267550.2(TTN):c.100594C>T (p.Gln33532Ter)
|
|
|
|
NM_001267550.2(TTN):c.100641dup (p.Phe33548fs)
|
rs2154137207
|
|
|
NM_001267550.2(TTN):c.100701_100702dup (p.Tyr33568fs)
|
rs2154137167
|
|
|
NM_001267550.2(TTN):c.100723C>T (p.Gln33575Ter)
|
rs2154137150
|
|
|
NM_001267550.2(TTN):c.100766-1G>T
|
|
|
|
NM_001267550.2(TTN):c.100766-2A>T
|
rs1364779690
|
|
|
NM_001267550.2(TTN):c.100791_100792insGTGTACCTAAA (p.Thr33598fs)
|
rs1691180795
|
|
|
NM_001267550.2(TTN):c.100883_100886dup (p.Trp33629fs)
|
|
|
|
NM_001267550.2(TTN):c.100906dup (p.Ile33636fs)
|
|
|
|
NM_001267550.2(TTN):c.100924_100940del (p.Tyr33642fs)
|
|
|
|
NM_001267550.2(TTN):c.100942_100944delinsT (p.Arg33648fs)
|
rs1559050685
|
|
|
NM_001267550.2(TTN):c.100947del (p.Phe33650fs)
|
rs1691117338
|
|
|
NM_001267550.2(TTN):c.101027del (p.Gly33676fs)
|
rs2154136770
|
|
|
NM_001267550.2(TTN):c.101035C>T (p.Gln33679Ter)
|
rs561471402
|
|
|
NM_001267550.2(TTN):c.101094_101097del (p.Ser33699fs)
|
rs1691030502
|
|
|
NM_001267550.2(TTN):c.101098_101099insT (p.Asp33700fs)
|
rs869312122
|
|
|
NM_001267550.2(TTN):c.101098delinsCT (p.Asp33700fs)
|
rs794729367
|
|
|
NM_001267550.2(TTN):c.101129G>A (p.Trp33710Ter)
|
|
|
|
NM_001267550.2(TTN):c.10115-1G>C
|
rs2088245783
|
|
|
NM_001267550.2(TTN):c.101187T>A (p.Cys33729Ter)
|
|
|
|
NM_001267550.2(TTN):c.101207G>A (p.Trp33736Ter)
|
rs2154136654
|
|
|
NM_001267550.2(TTN):c.101208G>A (p.Trp33736Ter)
|
rs1559047711
|
|
|
NM_001267550.2(TTN):c.101230del (p.Glu33744fs)
|
rs1575293252
|
|
|
NM_001267550.2(TTN):c.101247dup (p.Ile33750fs)
|
|
|
|
NM_001267550.2(TTN):c.101440del (p.Glu33814fs)
|
rs1690880184
|
|
|
NM_001267550.2(TTN):c.101458_101459del (p.Met33820fs)
|
|
|
|
NM_001267550.2(TTN):c.101494dup (p.Ile33832fs)
|
rs1559044465
|
|
|
NM_001267550.2(TTN):c.101567del (p.Asp33856fs)
|
rs1690814987
|
|
|
NM_001267550.2(TTN):c.101627dup (p.Leu33876fs)
|
rs1690787769
|
|
|
NM_001267550.2(TTN):c.101642C>G (p.Ser33881Ter)
|
rs2154136345
|
|
|
NM_001267550.2(TTN):c.101665_101668del (p.Leu33888_Val33889insTer)
|
rs2154136319
|
|
|
NM_001267550.2(TTN):c.101676dup (p.Glu33893Ter)
|
|
|
|
NM_001267550.2(TTN):c.101687C>A (p.Ser33896Ter)
|
rs376813674
|
|
|
NM_001267550.2(TTN):c.101694dup (p.Asp33899Ter)
|
|
|
|
NM_001267550.2(TTN):c.101704G>T (p.Glu33902Ter)
|
|
|
|
NM_001267550.2(TTN):c.101728G>T (p.Glu33910Ter)
|
rs943777958
|
|
|
NM_001267550.2(TTN):c.101757T>G (p.Tyr33919Ter)
|
|
|
|
NM_001267550.2(TTN):c.101789del (p.Leu33930fs)
|
rs1575285509
|
|
|
NM_001267550.2(TTN):c.101793_101794del (p.His33931fs)
|
|
|
|
NM_001267550.2(TTN):c.101920del (p.Leu33974fs)
|
rs1690665406
|
|
|
NM_001267550.2(TTN):c.101943C>G (p.Tyr33981Ter)
|
rs1575283255
|
|
|
NM_001267550.2(TTN):c.101953G>T (p.Glu33985Ter)
|
rs534613934
|
|
|
NM_001267550.2(TTN):c.101985dup (p.Thr33996fs)
|
|
|
|
NM_001267550.2(TTN):c.101992_101993del (p.Met33998fs)
|
|
|
|
NM_001267550.2(TTN):c.101996G>A (p.Trp33999Ter)
|
rs869312068
|
|
|
NM_001267550.2(TTN):c.102057del (p.Asn34020fs)
|
rs1690605753
|
|
|
NM_001267550.2(TTN):c.102061C>T (p.Gln34021Ter)
|
rs1060500471
|
|
|
NM_001267550.2(TTN):c.102176_102177del (p.Lys34059fs)
|
|
|
|
NM_001267550.2(TTN):c.102205C>T (p.Gln34069Ter)
|
|
|
|
NM_001267550.2(TTN):c.102234_102237del (p.Arg34079fs)
|
rs754731686
|
|
|
NM_001267550.2(TTN):c.102269_102270dup (p.Arg34091fs)
|
rs751329439
|
|
|
NM_001267550.2(TTN):c.102289del (p.Thr34096_Leu34097insTer)
|
rs2154135814
|
|
|
NM_001267550.2(TTN):c.102300del (p.Asp34101fs)
|
rs2154135804
|
|
|
NM_001267550.2(TTN):c.102309_102310insCCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAGACCTCAAC (p.Met34104delinsProAsnAlaArgTer)
|
rs2154135797
|
|
|
NM_001267550.2(TTN):c.102352C>T (p.Arg34118Ter)
|
rs1212204584
|
|
|
NM_001267550.2(TTN):c.102375del (p.Ala34126fs)
|
rs2154135741
|
|
|
NM_001267550.2(TTN):c.102388_102397del (p.Val34130fs)
|
|
|
|
NM_001267550.2(TTN):c.102526C>T (p.Gln34176Ter)
|
|
|
|
NM_001267550.2(TTN):c.102537_102538del (p.Asn34179fs)
|
|
|
|
NM_001267550.2(TTN):c.102541G>T (p.Glu34181Ter)
|
|
|
|
NM_001267550.2(TTN):c.102549C>A (p.Tyr34183Ter)
|
|
|
|
NM_001267550.2(TTN):c.102585T>A (p.Tyr34195Ter)
|
rs1690344942
|
|
|
NM_001267550.2(TTN):c.102630_102645dup (p.Gly34216delinsSerSerGlnTer)
|
rs2154135556
|
|
|
NM_001267550.2(TTN):c.102718_102719del (p.Thr34240fs)
|
rs1559031280
|
|
|
NM_001267550.2(TTN):c.102744del (p.Asp34249fs)
|
rs2154135500
|
|
|
NM_001267550.2(TTN):c.102749del (p.Thr34250fs)
|
rs2154135490
|
|
|
NM_001267550.2(TTN):c.102795TAA[1] (p.Asn34266del)
|
rs886044414
|
|
|
NM_001267550.2(TTN):c.102796_102798delinsTATA (p.Asn34266fs)
|
rs1060500589
|
|
|
NM_001267550.2(TTN):c.102872_102878del (p.Trp34291fs)
|
rs2154135366
|
|
|
NM_001267550.2(TTN):c.102916A>T (p.Lys34306Ter)
|
rs1575269011
|
|
|
NM_001267550.2(TTN):c.102937_102940dup (p.Gly34314fs)
|
rs2154135311
|
|
|
NM_001267550.2(TTN):c.102953T>G (p.Leu34318Ter)
|
|
|
|
NM_001267550.2(TTN):c.102956_102958del (p.Thr34319del)
|
rs878854378
|
|
|
NM_001267550.2(TTN):c.103021G>T (p.Glu34341Ter)
|
|
|
|
NM_001267550.2(TTN):c.103043_103044insA (p.Thr34349fs)
|
rs1690115787
|
|
|
NM_001267550.2(TTN):c.103061del (p.Pro34354fs)
|
rs1690111134
|
|
|
NM_001267550.2(TTN):c.103073_103076dup (p.Ser34359delinsArgTer)
|
rs2154135223
|
|
|
NM_001267550.2(TTN):c.103155_103156del (p.Arg34385fs)
|
rs1575265345
|
|
|
NM_001267550.2(TTN):c.103172dup (p.Pro34392fs)
|
|
|
|
NM_001267550.2(TTN):c.103189del (p.Glu34397fs)
|
rs2154135131
|
|
|
NM_001267550.2(TTN):c.103317_103320del (p.Asn34440fs)
|
|
|
|
NM_001267550.2(TTN):c.103336del (p.Ser34446fs)
|
rs1553491793
|
|
|
NM_001267550.2(TTN):c.103360del (p.Glu34454fs)
|
rs760768093
|
|
|
NM_001267550.2(TTN):c.103374C>A (p.Tyr34458Ter)
|
rs1060500505
|
|
|
NM_001267550.2(TTN):c.103453G>T (p.Glu34485Ter)
|
rs1575259969
|
|
|
NM_001267550.2(TTN):c.103459_103460del (p.Leu34487fs)
|
rs1689940049
|
|
|
NM_001267550.2(TTN):c.103489C>T (p.Gln34497Ter)
|
|
|
|
NM_001267550.2(TTN):c.103518del (p.Ala34507fs)
|
rs1553491220
|
|
|
NM_001267550.2(TTN):c.103580_103583dup (p.Glu34528fs)
|
|
|
|
NM_001267550.2(TTN):c.103620T>G (p.Tyr34540Ter)
|
|
|
|
NM_001267550.2(TTN):c.103638dup (p.Lys34547fs)
|
|
|
|
NM_001267550.2(TTN):c.103644T>G (p.Tyr34548Ter)
|
|
|
|
NM_001267550.2(TTN):c.103678A>T (p.Lys34560Ter)
|
|
|
|
NM_001267550.2(TTN):c.103705A>T (p.Lys34569Ter)
|
rs1553490574
|
|
|
NM_001267550.2(TTN):c.103710G>A (p.Trp34570Ter)
|
|
|
|
NM_001267550.2(TTN):c.103726_103727insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGATACGTG (p.Asp34576delinsGlyProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysLysAspThrTer)
|
|
|
|
NM_001267550.2(TTN):c.103758_103759del (p.Arg34586fs)
|
rs1689777278
|
|
|
NM_001267550.2(TTN):c.103765C>T (p.Gln34589Ter)
|
rs749082693
|
|
|
NM_001267550.2(TTN):c.103814dup (p.Met34606fs)
|
|
|
|
NM_001267550.2(TTN):c.103845C>G (p.Tyr34615Ter)
|
rs2154134580
|
|
|
NM_001267550.2(TTN):c.103846_103849dup (p.Pro34617fs)
|
rs2154134575
|
|
|
NM_001267550.2(TTN):c.103938_103939del (p.Phe34646fs)
|
rs1689704657
|
|
|
NM_001267550.2(TTN):c.103943del (p.Tyr34648fs)
|
rs1689700102
|
|
|
NM_001267550.2(TTN):c.104012T>G (p.Leu34671Ter)
|
|
|
|
NM_001267550.2(TTN):c.104069del (p.Gly34690fs)
|
rs2154134397
|
|
|
NM_001267550.2(TTN):c.104081C>G (p.Ser34694Ter)
|
rs886043279
|
|
|
NM_001267550.2(TTN):c.104092_104103delinsGAAGCTTT (p.Arg34698fs)
|
rs1689596670
|
|
|
NM_001267550.2(TTN):c.104170_104174del (p.Lys34724fs)
|
rs2154134297
|
|
|
NM_001267550.2(TTN):c.104171_104172del (p.Lys34724fs)
|
rs2154134302
|
|
|
NM_001267550.2(TTN):c.104242G>T (p.Glu34748Ter)
|
|
|
|
NM_001267550.2(TTN):c.104266A>T (p.Arg34756Ter)
|
|
|
|
NM_001267550.2(TTN):c.104302_104303del (p.Arg34768fs)
|
|
|
|
NM_001267550.2(TTN):c.104421_104425del (p.Arg34807fs)
|
rs1689427568
|
|
|
NM_001267550.2(TTN):c.104484_104487dup (p.Ser34830fs)
|
|
|
|
NM_001267550.2(TTN):c.104515C>T (p.Arg34839Ter)
|
rs1553488049
|
|
|
NM_001267550.2(TTN):c.104609del (p.Asp34870fs)
|
|
|
|
NM_001267550.2(TTN):c.104653C>T (p.Arg34885Ter)
|
rs1057518003
|
|
|
NM_001267550.2(TTN):c.104666_104667del (p.Pro34889fs)
|
rs1689304332
|
|
|
NM_001267550.2(TTN):c.104668dup (p.Val34890fs)
|
rs2154133906
|
|
|
NM_001267550.2(TTN):c.104699_104726delinsT (p.Glu34900_Ser34909delinsVal)
|
rs1689265228
|
|
|
NM_001267550.2(TTN):c.104771C>A (p.Ser34924Ter)
|
rs1559003939
|
|
|
NM_001267550.2(TTN):c.104779A>T (p.Lys34927Ter)
|
|
|
|
NM_001267550.2(TTN):c.104861_104876del (p.Pro34954fs)
|
rs1402952523
|
|
|
NM_001267550.2(TTN):c.104953del (p.Ser34985fs)
|
rs2154133695
|
|
|
NM_001267550.2(TTN):c.105161del (p.Pro35054fs)
|
|
|
|
NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs)
|
rs770878165
|
|
|
NM_001267550.2(TTN):c.105241del (p.Glu35081fs)
|
|
|
|
NM_001267550.2(TTN):c.105251C>G (p.Ser35084Ter)
|
|
|
|
NM_001267550.2(TTN):c.105288del (p.Ser35095_Tyr35096insTer)
|
|
|
|
NM_001267550.2(TTN):c.105296_105297del (p.Ser35099fs)
|
|
|
|
NM_001267550.2(TTN):c.105422dup (p.Tyr35141Ter)
|
rs1558995457
|
|
|
NM_001267550.2(TTN):c.105428del (p.Gly35143fs)
|
rs886042825
|
|
|
NM_001267550.2(TTN):c.105485G>A (p.Trp35162Ter)
|
rs886042795
|
|
|
NM_001267550.2(TTN):c.105486G>A (p.Trp35162Ter)
|
|
|
|
NM_001267550.2(TTN):c.105614del (p.Asn35205fs)
|
rs2154133153
|
|
|
NM_001267550.2(TTN):c.105655C>T (p.Gln35219Ter)
|
|
|
|
NM_001267550.2(TTN):c.105703A>T (p.Lys35235Ter)
|
|
|
|
NM_001267550.2(TTN):c.105747_105766del (p.Pro35250fs)
|
|
|
|
NM_001267550.2(TTN):c.105791dup (p.Ser35265fs)
|
rs1688794902
|
|
|
NM_001267550.2(TTN):c.105804_105805del (p.Glu35268fs)
|
|
|
|
NM_001267550.2(TTN):c.105810dup (p.Pro35271fs)
|
rs1553484602
|
|
|
NM_001267550.2(TTN):c.105832C>T (p.Gln35278Ter)
|
|
|
|
NM_001267550.2(TTN):c.105854dup (p.Pro35286fs)
|
|
|
|
NM_001267550.2(TTN):c.105898del (p.Ile35300fs)
|
|
|
|
NM_001267550.2(TTN):c.105957G>A (p.Trp35319Ter)
|
rs1575219172
|
|
|
NM_001267550.2(TTN):c.105997_105998del (p.Gln35333fs)
|
|
|
|
NM_001267550.2(TTN):c.106015del (p.Asp35339fs)
|
rs1558988204
|
|
|
NM_001267550.2(TTN):c.106019del (p.Gly35340fs)
|
rs727504482
|
|
|
NM_001267550.2(TTN):c.106049del (p.Thr35350fs)
|
rs1250336644
|
|
|
NM_001267550.2(TTN):c.106117C>T (p.Gln35373Ter)
|
rs778126842
|
|
|
NM_001267550.2(TTN):c.106157dup (p.Ser35387fs)
|
|
|
|
NM_001267550.2(TTN):c.106189C>T (p.Gln35397Ter)
|
|
|
|
NM_001267550.2(TTN):c.106259_106271del (p.Pro35420fs)
|
|
|
|
NM_001267550.2(TTN):c.106374+1del
|
rs763404256
|
|
|
NM_001267550.2(TTN):c.106374G>A (p.Lys35458=)
|
rs2154132585
|
|
|
NM_001267550.2(TTN):c.106487dup (p.Asn35496fs)
|
rs2154132395
|
|
|
NM_001267550.2(TTN):c.106531+1G>A
|
rs760915007
|
|
|
NM_001267550.2(TTN):c.106531G>C (p.Ala35511Pro)
|
|
|
|
NM_001267550.2(TTN):c.106698del (p.Ala35567fs)
|
|
|
|
NM_001267550.2(TTN):c.106740del (p.Ala35581fs)
|
rs2154131505
|
|
|
NM_001267550.2(TTN):c.106768dup (p.His35590fs)
|
rs1687796533
|
|
|
NM_001267550.2(TTN):c.106773_106780del (p.Glu35591fs)
|
|
|
|
NM_001267550.2(TTN):c.106828A>T (p.Lys35610Ter)
|
rs753984036
|
|
|
NM_001267550.2(TTN):c.106928_106932del (p.Val35643fs)
|
|
|
|
NM_001267550.2(TTN):c.106978C>T (p.Gln35660Ter)
|
|
|
|
NM_001267550.2(TTN):c.106996C>T (p.Gln35666Ter)
|
rs750660824
|
|
|
NM_001267550.2(TTN):c.107006del (p.His35669fs)
|
|
|
|
NM_001267550.2(TTN):c.107033dup (p.Ser35679fs)
|
rs2154131263
|
|
|
NM_001267550.2(TTN):c.107065_107068del (p.Gln35689fs)
|
rs2154131227
|
|
|
NM_001267550.2(TTN):c.107153dup (p.Asn35718fs)
|
|
|
|
NM_001267550.2(TTN):c.107202_107203del (p.Trp35735fs)
|
rs1575189496
|
|
|
NM_001267550.2(TTN):c.107204G>A (p.Trp35735Ter)
|
|
|
|
NM_001267550.2(TTN):c.107223+1G>A
|
rs876658102
|
|
|
NM_001267550.2(TTN):c.107223+2T>C
|
|
|
|
NM_001267550.2(TTN):c.107224-1G>C
|
rs112720067
|
|
|
NM_001267550.2(TTN):c.107224-2A>G
|
rs111401822
|
|
|
NM_001267550.2(TTN):c.107312_107315del (p.Lys35771fs)
|
|
|
|
NM_001267550.2(TTN):c.107312dup (p.Tyr35772fs)
|
rs2154130897
|
|
|
NM_001267550.2(TTN):c.107322del (p.Lys35775fs)
|
rs2154130886
|
|
|
NM_001267550.2(TTN):c.107343_107346del (p.Gln35782fs)
|
|
|
|
NM_001267550.2(TTN):c.107344C>T (p.Gln35782Ter)
|
|
|
|
NM_001267550.2(TTN):c.107351C>A (p.Ser35784Ter)
|
rs1575185742
|
|
|
NM_001267550.2(TTN):c.107351C>G (p.Ser35784Ter)
|
rs1575185742
|
|
|
NM_001267550.2(TTN):c.107377+1G>C
|
rs112188483
|
|
|
NM_001267550.2(TTN):c.107460_107463dup (p.Gln35822fs)
|
rs886042246
|
|
|
NM_001267550.2(TTN):c.107617G>T (p.Gly35873Ter)
|
|
|
|
NM_001267550.2(TTN):c.107644del (p.Ser35882fs)
|
rs1179955071
|
|
|
NM_001267550.2(TTN):c.107789G>A (p.Trp35930Ter)
|
rs1278698690
|
|
|
NM_001267550.2(TTN):c.107800G>T (p.Gly35934Ter)
|
rs368277535
|
|
|
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)
|
rs281864928
|
|
|
NM_001267550.2(TTN):c.107840T>C (p.Ile35947Thr)
|
rs281864928
|
|
|
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)
|
rs267607156
|
|
|
NM_001267550.2(TTN):c.107957T>C (p.Ile35986Thr)
|
rs1060500541
|
|
|
NM_001267550.2(TTN):c.11709T>A (p.Cys3903Ter)
|
rs2082478614
|
|
|
NM_001267550.2(TTN):c.11880dup (p.Val3961fs)
|
|
|
|
NM_001267550.2(TTN):c.12218_12222dup (p.Val4075fs)
|
|
|
|
NM_001267550.2(TTN):c.12319del (p.Leu4107fs)
|
rs2154318463
|
|
|
NM_001267550.2(TTN):c.12850C>T (p.Gln4284Ter)
|
rs2082282118
|
|
|
NM_001267550.2(TTN):c.12887C>A (p.Ser4296Ter)
|
|
|
|
NM_001267550.2(TTN):c.13058del (p.Pro4353fs)
|
rs1408345511
|
|
|
NM_001267550.2(TTN):c.13085_13086del (p.Glu4362fs)
|
rs2154317985
|
|
|
NM_001267550.2(TTN):c.13115del (p.Val4372fs)
|
rs2154317965
|
|
|
NM_001267550.2(TTN):c.13117C>T (p.Gln4373Ter)
|
rs1064793411
|
|
|
NM_001267550.2(TTN):c.13450del (p.Glu4484fs)
|
rs2082158844
|
|
|
NM_001267550.2(TTN):c.13732G>T (p.Glu4578Ter)
|
|
|
|
NM_001267550.2(TTN):c.13807del (p.Glu4603fs)
|
rs1574066113
|
|
|
NM_001267550.2(TTN):c.13817_13818dup (p.Met4607fs)
|
|
|
|
NM_001267550.2(TTN):c.13898_13899del (p.Lys4633fs)
|
rs2154317474
|
|
|
NM_001267550.2(TTN):c.1393G>T (p.Glu465Ter)
|
rs1313233245
|
|
|
NM_001267550.2(TTN):c.13943_13947dup (p.Phe4650fs)
|
rs767038068
|
|
|
NM_001267550.2(TTN):c.1398+1G>A
|
|
|
|
NM_001267550.2(TTN):c.14198G>A (p.Trp4733Ter)
|
rs1574050861
|
|
|
NM_001267550.2(TTN):c.14245C>T (p.Arg4749Ter)
|
rs1553934752
|
|
|
NM_001267550.2(TTN):c.14301C>A (p.Cys4767Ter)
|
|
|
|
NM_001267550.2(TTN):c.14310T>A (p.Tyr4770Ter)
|
|
|
|
NM_001267550.2(TTN):c.14372-2A>C
|
rs747942388
|
|
|
NM_001267550.2(TTN):c.14372-2A>G
|
|
|
|
NM_001267550.2(TTN):c.15177_15181delinsAGTACT (p.Asp5059fs)
|
|
|
|
NM_001267550.2(TTN):c.15496+1G>T
|
rs397517481
|
|
|
NM_001267550.2(TTN):c.17506dup (p.Gln5836fs)
|
|
|
|
NM_001267550.2(TTN):c.17967C>G (p.Tyr5989Ter)
|
rs2154308240
|
|
|
NM_001267550.2(TTN):c.18718C>T (p.Arg6240Ter)
|
|
|
|
NM_001267550.2(TTN):c.19426+2T>A
|
rs727505178
|
|
|
NM_001267550.2(TTN):c.19709_19710del (p.Val6570fs)
|
|
|
|
NM_001267550.2(TTN):c.20392A>T (p.Lys6798Ter)
|
rs2154304590
|
|
|
NM_001267550.2(TTN):c.20449del (p.Ser6817fs)
|
rs2079254006
|
|
|
NM_001267550.2(TTN):c.20836+1G>T
|
|
|
|
NM_001267550.2(TTN):c.2137C>T (p.Arg713Ter)
|
rs727505277
|
|
|
NM_001267550.2(TTN):c.21961G>T (p.Glu7321Ter)
|
|
|
|
NM_001267550.2(TTN):c.2224del (p.Ser742fs)
|
rs2093148818
|
|
|
NM_001267550.2(TTN):c.22480T>C (p.Ser7494Pro)
|
rs1560689563
|
|
|
NM_001267550.2(TTN):c.22870G>T (p.Glu7624Ter)
|
|
|
|
NM_001267550.2(TTN):c.22973C>A (p.Ser7658Ter)
|
|
|
|
NM_001267550.2(TTN):c.23099-2A>G
|
rs2154300788
|
|
|
NM_001267550.2(TTN):c.23998del (p.Ala8000fs)
|
rs2154300048
|
|
|
NM_001267550.2(TTN):c.24611G>A (p.Trp8204Ter)
|
|
|
|
NM_001267550.2(TTN):c.25063+1G>A
|
rs754247415
|
|
|
NM_001267550.2(TTN):c.25219C>T (p.Gln8407Ter)
|
|
|
|
NM_001267550.2(TTN):c.26067C>G (p.Tyr8689Ter)
|
rs377125716
|
|
|
NM_001267550.2(TTN):c.26482G>T (p.Glu8828Ter)
|
rs778206438
|
|
|
NM_001267550.2(TTN):c.26926del (p.Thr8975_Leu8976insTer)
|
rs2154296486
|
|
|
NM_001267550.2(TTN):c.27329-1del
|
|
|
|
NM_001267550.2(TTN):c.28049C>A (p.Ser9350Ter)
|
|
|
|
NM_001267550.2(TTN):c.28174+1G>T
|
rs1577824925
|
|
|
NM_001267550.2(TTN):c.28462+1G>T
|
rs2076520917
|
|
|
NM_001267550.2(TTN):c.29542C>T (p.Arg9848Ter)
|
|
|
|
NM_001267550.2(TTN):c.29621_29624del (p.Glu9874fs)
|
rs777924443
|
|
|
NM_001267550.2(TTN):c.29863C>T (p.Arg9955Ter)
|
|
|
|
NM_001267550.2(TTN):c.29914C>T (p.Arg9972Ter)
|
|
|
|
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter)
|
rs397517547
|
|
|
NM_001267550.2(TTN):c.31402C>T (p.Gln10468Ter)
|
|
|
|
NM_001267550.2(TTN):c.31519_31523dup (p.Gln10509fs)
|
rs2154281189
|
|
|
NM_001267550.2(TTN):c.31762+1G>T
|
|
|
|
NM_001267550.2(TTN):c.32092C>T (p.Arg10698Ter)
|
rs1396898734
|
|
|
NM_001267550.2(TTN):c.32274_32277del (p.Glu10759fs)
|
|
|
|
NM_001267550.2(TTN):c.32470+2T>C
|
|
|
|
NM_001267550.2(TTN):c.32700dup (p.Glu10901fs)
|
|
|
|
NM_001267550.2(TTN):c.3283del (p.Glu1095fs)
|
|
|
|
NM_001267550.2(TTN):c.32887+1G>T
|
rs546105899
|
|
|
NM_001267550.2(TTN):c.33418+2T>A
|
rs779749654
|
|
|
NM_001267550.2(TTN):c.3425dup (p.Ile1143fs)
|
|
|
|
NM_001267550.2(TTN):c.34379-1G>C
|
|
|
|
NM_001267550.2(TTN):c.3487G>A (p.Gly1163Arg)
|
rs1554015228
|
|
|
NM_001267550.2(TTN):c.35123del (p.His11708fs)
|
|
|
|
NM_001267550.2(TTN):c.35321_35322del (p.Pro11774fs)
|
|
|
|
NM_001267550.2(TTN):c.35630-1G>C
|
rs2154262004
|
|
|
NM_001267550.2(TTN):c.36003del (p.Phe12001fs)
|
|
|
|
NM_001267550.2(TTN):c.36267_36280+16del
|
rs745871962
|
|
|
NM_001267550.2(TTN):c.36364+1G>C
|
|
|
|
NM_001267550.2(TTN):c.36365-1G>A
|
rs577672565
|
|
|
NM_001267550.2(TTN):c.3664C>T (p.Gln1222Ter)
|
rs1227198694
|
|
|
NM_001267550.2(TTN):c.3729+1G>A
|
rs781562337
|
|
|
NM_001267550.2(TTN):c.38182A>T (p.Lys12728Ter)
|
|
|
|
NM_001267550.2(TTN):c.38767A>T (p.Lys12923Ter)
|
rs750990843
|
|
|
NM_001267550.2(TTN):c.39212-1G>A
|
|
|
|
NM_001267550.2(TTN):c.39251del (p.Val13084fs)
|
|
|
|
NM_001267550.2(TTN):c.39709+1G>A
|
|
|
|
NM_001267550.2(TTN):c.39895+1G>A
|
rs749931280
|
|
|
NM_001267550.2(TTN):c.40297+1G>A
|
|
|
|
NM_001267550.2(TTN):c.40437del (p.Lys13479fs)
|
|
|
|
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu)
|
rs587780488
|
|
|
NM_001267550.2(TTN):c.4057_4058del (p.Val1353fs)
|
|
|
|
NM_001267550.2(TTN):c.40626dup (p.Pro13543fs)
|
rs1553754743
|
|
|
NM_001267550.2(TTN):c.40652del (p.Pro13551fs)
|
|
|
|
NM_001267550.2(TTN):c.40663G>T (p.Glu13555Ter)
|
|
|
|
NM_001267550.2(TTN):c.40688_40689insT (p.Arg13565fs)
|
rs2154238038
|
|
|
NM_001267550.2(TTN):c.40940dup (p.Thr13648fs)
|
|
|
|
NM_001267550.2(TTN):c.41406C>A (p.Cys13802Ter)
|
|
|
|
NM_001267550.2(TTN):c.41483del (p.Pro13828fs)
|
rs876657664
|
|
|
NM_001267550.2(TTN):c.41885-3_41885del
|
rs2154229192
|
|
|
NM_001267550.2(TTN):c.41937del (p.Glu13980fs)
|
|
|
|
NM_001267550.2(TTN):c.41941dup (p.Ser13981fs)
|
|
|
|
NM_001267550.2(TTN):c.42205C>T (p.Arg14069Ter)
|
rs2060187635
|
|
|
NM_001267550.2(TTN):c.42208C>T (p.Gln14070Ter)
|
rs2154227697
|
|
|
NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs)
|
rs797046064
|
|
|
NM_001267550.2(TTN):c.42919_42923del (p.Lys14307fs)
|
rs1060500566
|
|
|
NM_001267550.2(TTN):c.4293del (p.Met1432fs)
|
|
|
|
NM_001267550.2(TTN):c.43269del (p.Asp14423fs)
|
|
|
|
NM_001267550.2(TTN):c.44035C>T (p.Arg14679Ter)
|
rs776970935
|
|
|
NM_001267550.2(TTN):c.44294dup (p.Leu14766fs)
|
|
|
|
NM_001267550.2(TTN):c.44364del (p.Tyr14789fs)
|
rs397517576
|
|
|
NM_001267550.2(TTN):c.45156T>A (p.Cys15052Ter)
|
rs1060500487
|
|
|
NM_001267550.2(TTN):c.45383del (p.Asn15128fs)
|
|
|
|
NM_001267550.2(TTN):c.45459del (p.Arg15154fs)
|
|
|
|
NM_001267550.2(TTN):c.4592_4596del (p.Val1531fs)
|
rs1131691910
|
|
|
NM_001267550.2(TTN):c.46344del (p.Ile15448_Ile15449insTer)
|
|
|
|
NM_001267550.2(TTN):c.46603C>T (p.Arg15535Ter)
|
rs764654357
|
|
|
NM_001267550.2(TTN):c.46609C>T (p.Gln15537Ter)
|
rs1131691528
|
|
|
NM_001267550.2(TTN):c.46816G>T (p.Glu15606Ter)
|
|
|
|
NM_001267550.2(TTN):c.46843dup (p.Thr15615fs)
|
rs1553712292
|
|
|
NM_001267550.2(TTN):c.46865del (p.Phe15622fs)
|
|
|
|
NM_001267550.2(TTN):c.46986dup (p.Asn15663Ter)
|
rs2154209578
|
|
|
NM_001267550.2(TTN):c.47040del (p.Glu15680fs)
|
rs2057734561
|
|
|
NM_001267550.2(TTN):c.47112G>A (p.Trp15704Ter)
|
|
|
|
NM_001267550.2(TTN):c.47142_47143del (p.Cys15714_Glu15715delinsTer)
|
rs869312107
|
|
|
NM_001267550.2(TTN):c.47143_47146dup (p.Phe15716Ter)
|
rs1422071853
|
|
|
NM_001267550.2(TTN):c.47195dup (p.Ser15733fs)
|
|
|
|
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs)
|
rs756433029
|
|
|
NM_001267550.2(TTN):c.47269+2T>C
|
rs1060500419
|
|
|
NM_001267550.2(TTN):c.47285del (p.Pro15762fs)
|
|
|
|
NM_001267550.2(TTN):c.47379C>A (p.Tyr15793Ter)
|
|
|
|
NM_001267550.2(TTN):c.47379C>G (p.Tyr15793Ter)
|
|
|
|
NM_001267550.2(TTN):c.47384_47385insCT (p.Glu15796fs)
|
|
|
|
NM_001267550.2(TTN):c.47398_47402dup (p.Ser15802fs)
|
|
|
|
NM_001267550.2(TTN):c.47407del (p.Ile15803fs)
|
rs2154209120
|
|
|
NM_001267550.2(TTN):c.47414G>A (p.Trp15805Ter)
|
|
|
|
NM_001267550.2(TTN):c.47487C>A (p.Tyr15829Ter)
|
rs2057643696
|
|
|
NM_001267550.2(TTN):c.47487_47488del (p.Tyr15829_Ser15830delinsTer)
|
rs1447249014
|
|
|
NM_001267550.2(TTN):c.47506C>T (p.Gln15836Ter)
|
rs397517589
|
|
|
NM_001267550.2(TTN):c.47512C>T (p.Arg15838Ter)
|
rs762271078
|
|
|
NM_001267550.2(TTN):c.47573-1G>A
|
|
|
|
NM_001267550.2(TTN):c.47573-1G>C
|
|
|
|
NM_001267550.2(TTN):c.47576_47577delGA
|
rs1060500489
|
|
|
NM_001267550.2(TTN):c.47579del (p.Pro15860fs)
|
rs2154208767
|
|
|
NM_001267550.2(TTN):c.47629C>T (p.Gln15877Ter)
|
rs886044009
|
|
|
NM_001267550.2(TTN):c.47639G>A (p.Trp15880Ter)
|
|
|
|
NM_001267550.2(TTN):c.47660_47663del (p.Gly15887fs)
|
|
|
|
NM_001267550.2(TTN):c.47674_47680dup (p.Tyr15894fs)
|
|
|
|
NM_001267550.2(TTN):c.47688del (p.Ile15896fs)
|
|
|
|
NM_001267550.2(TTN):c.47692C>T (p.Arg15898Ter)
|
rs775186117
|
|
|
NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter)
|
rs373040154
|
|
|
NM_001267550.2(TTN):c.47701G>T (p.Glu15901Ter)
|
rs530338718
|
|
|
NM_001267550.2(TTN):c.47708_47709del (p.Lys15903fs)
|
|
|
|
NM_001267550.2(TTN):c.47760+1G>A
|
rs2154208642
|
|
|
NM_001267550.2(TTN):c.47761-2A>T
|
|
|
|
NM_001267550.2(TTN):c.47786_47789del (p.Lys15929fs)
|
rs2154208514
|
|
|
NM_001267550.2(TTN):c.47797A>T (p.Arg15933Ter)
|
rs2057499255
|
|
|
NM_001267550.2(TTN):c.47808del (p.Glu15937fs)
|
|
|
|
NM_001267550.2(TTN):c.47885dup (p.Met15963fs)
|
rs2057454001
|
|
|
NM_001267550.2(TTN):c.47894T>A (p.Leu15965Ter)
|
rs878982457
|
|
|
NM_001267550.2(TTN):c.47988G>A (p.Trp15996Ter)
|
|
|
|
NM_001267550.2(TTN):c.48002_48006dup (p.Leu16003fs)
|
rs2154208302
|
|
|
NM_001267550.2(TTN):c.48110T>A (p.Leu16037Ter)
|
|
|
|
NM_001267550.2(TTN):c.48142del (p.Ile16048fs)
|
|
|
|
NM_001267550.2(TTN):c.48157_48158del (p.Ile16053fs)
|
rs2154208239
|
|
|
NM_001267550.2(TTN):c.48160+1G>A
|
rs779498825
|
|
|
NM_001267550.2(TTN):c.48167del (p.Pro16056fs)
|
rs1443466576
|
|
|
NM_001267550.2(TTN):c.48177del (p.Glu16061fs)
|
|
|
|
NM_001267550.2(TTN):c.48181G>T (p.Glu16061Ter)
|
|
|
|
NM_001267550.2(TTN):c.48223_48227dup (p.Trp16076Ter)
|
|
|
|
NM_001267550.2(TTN):c.48227_48229delinsAAA (p.Trp16076_Glu16077delinsTer)
|
rs1553706971
|
|
|
NM_001267550.2(TTN):c.48229del (p.Glu16077fs)
|
|
|
|
NM_001267550.2(TTN):c.48233del (p.Pro16078fs)
|
|
|
|
NM_001267550.2(TTN):c.48248_48251del (p.Gly16083fs)
|
|
|
|
NM_001267550.2(TTN):c.48264del (p.Gly16089fs)
|
rs2154208052
|
|
|
NM_001267550.2(TTN):c.48305G>A (p.Trp16102Ter)
|
|
|
|
NM_001267550.2(TTN):c.48312+2T>C
|
rs2057367803
|
|
|
NM_001267550.2(TTN):c.48313-1G>A
|
rs2154207046
|
|
|
NM_001267550.2(TTN):c.48320_48323dup (p.Phe16108fs)
|
|
|
|
NM_001267550.2(TTN):c.48369dup (p.Glu16124fs)
|
rs1553705557
|
|
|
NM_001267550.2(TTN):c.48379_48382del (p.Phe16127fs)
|
rs1064796347
|
|
|
NM_001267550.2(TTN):c.48433G>T (p.Glu16145Ter)
|
|
|
|
NM_001267550.2(TTN):c.48461-1G>A
|
rs2154206288
|
|
|
NM_001267550.2(TTN):c.48461-2A>C
|
rs1553705079
|
|
|
NM_001267550.2(TTN):c.48499C>T (p.Arg16167Ter)
|
rs1312425985
|
|
|
NM_001267550.2(TTN):c.48502del (p.Thr16168fs)
|
|
|
|
NM_001267550.2(TTN):c.48521T>G (p.Leu16174Ter)
|
|
|
|
NM_001267550.2(TTN):c.48542dup (p.Asn16181fs)
|
rs1576472316
|
|
|
NM_001267550.2(TTN):c.48550_48553dup (p.Ser16185fs)
|
rs2154205990
|
|
|
NM_001267550.2(TTN):c.48605G>A (p.Trp16202Ter)
|
|
|
|
NM_001267550.2(TTN):c.48606G>A (p.Trp16202Ter)
|
|
|
|
NM_001267550.2(TTN):c.48629del (p.Ala16210fs)
|
rs2057135958
|
|
|
NM_001267550.2(TTN):c.48634del (p.Thr16212fs)
|
rs2154205763
|
|
|
NM_001267550.2(TTN):c.48638+1del
|
|
|
|
NM_001267550.2(TTN):c.48698dup (p.Asn16233fs)
|
rs2057026455
|
|
|
NM_001267550.2(TTN):c.48759del (p.Glu16254fs)
|
rs2057015875
|
|
|
NM_001267550.2(TTN):c.48760+1G>A
|
|
|
|
NM_001267550.2(TTN):c.48760+1G>C
|
|
|
|
NM_001267550.2(TTN):c.48760+1G>T
|
|
|
|
NM_001267550.2(TTN):c.48760+2T>C
|
|
|
|
NM_001267550.2(TTN):c.48760G>T (p.Glu16254Ter)
|
|
|
|
NM_001267550.2(TTN):c.48767dup (p.Glu16257fs)
|
|
|
|
NM_001267550.2(TTN):c.48808_48809del (p.Val16270fs)
|
|
|
|
NM_001267550.2(TTN):c.48832del (p.Leu16278fs)
|
|
|
|
NM_001267550.2(TTN):c.48913_48916dup (p.Thr16306fs)
|
|
|
|
NM_001267550.2(TTN):c.48963_48966del (p.Ser16321fs)
|
rs1553703310
|
|
|
NM_001267550.2(TTN):c.49004dup (p.Asn16335fs)
|
rs1576461647
|
|
|
NM_001267550.2(TTN):c.49011_49012del (p.Cys16337fs)
|
|
|
|
NM_001267550.2(TTN):c.49048+1G>A
|
|
|
|
NM_001267550.2(TTN):c.49049-1G>C
|
rs868064056
|
|
|
NM_001267550.2(TTN):c.49049-2A>C
|
|
|
|
NM_001267550.2(TTN):c.49101_49102del (p.Cys16368fs)
|
rs1576457869
|
|
|
NM_001267550.2(TTN):c.49171C>T (p.Arg16391Ter)
|
rs570046043
|
|
|
NM_001267550.2(TTN):c.49187_49191dup (p.Trp16398fs)
|
|
|
|
NM_001267550.2(TTN):c.49345+1G>T
|
|
|
|
NM_001267550.2(TTN):c.49345+2T>C
|
rs1559805633
|
|
|
NM_001267550.2(TTN):c.49346-1G>A
|
rs869312070
|
|
|
NM_001267550.2(TTN):c.49413G>A (p.Trp16471Ter)
|
rs202094100
|
|
|
NM_001267550.2(TTN):c.49500C>A (p.Cys16500Ter)
|
|
|
|
NM_001267550.2(TTN):c.49525dup (p.Thr16509fs)
|
rs2154201255
|
|
|
NM_001267550.2(TTN):c.49533-1G>C
|
|
|
|
NM_001267550.2(TTN):c.49533-2A>G
|
|
|
|
NM_001267550.2(TTN):c.49648+1G>A
|
|
|
|
NM_001267550.2(TTN):c.49648+1G>T
|
|
|
|
NM_001267550.2(TTN):c.49649-2A>T
|
rs2154200803
|
|
|
NM_001267550.2(TTN):c.49666G>T (p.Gly16556Ter)
|
|
|
|
NM_001267550.2(TTN):c.49685del (p.Asp16562fs)
|
|
|
|
NM_001267550.2(TTN):c.49700C>A (p.Ser16567Ter)
|
|
|
|
NM_001267550.2(TTN):c.49749dup (p.Glu16584Ter)
|
rs2056619632
|
|
|
NM_001267550.2(TTN):c.49758T>G (p.Tyr16586Ter)
|
rs72677247
|
|
|
NM_001267550.2(TTN):c.49793G>A (p.Trp16598Ter)
|
|
|
|
NM_001267550.2(TTN):c.4979T>G (p.Leu1660Ter)
|
|
|
|
NM_001267550.2(TTN):c.49858G>T (p.Glu16620Ter)
|
rs1553699454
|
|
|
NM_001267550.2(TTN):c.49863C>A (p.Tyr16621Ter)
|
rs1553699440
|
|
|
NM_001267550.2(TTN):c.49863C>G (p.Tyr16621Ter)
|
rs794729264
|
|
|
NM_001267550.2(TTN):c.49874_49877dup (p.Arg16626delinsSerTer)
|
rs2056596896
|
|
|
NM_001267550.2(TTN):c.49948+2T>G
|
|
|
|
NM_001267550.2(TTN):c.49948+2_49948+10del
|
rs2056581815
|
|
|
NM_001267550.2(TTN):c.49949-1G>T
|
|
|
|
NM_001267550.2(TTN):c.49964del (p.Pro16655fs)
|
|
|
|
NM_001267550.2(TTN):c.49970G>A (p.Trp16657Ter)
|
rs2154200456
|
|
|
NM_001267550.2(TTN):c.50016G>A (p.Trp16672Ter)
|
rs2154200433
|
|
|
NM_001267550.2(TTN):c.50074_50075del (p.Asp16692fs)
|
rs1060500513
|
|
|
NM_001267550.2(TTN):c.50094G>A (p.Trp16698Ter)
|
|
|
|
NM_001267550.2(TTN):c.50095C>T (p.Gln16699Ter)
|
rs2056504499
|
|
|
NM_001267550.2(TTN):c.50098dup (p.Thr16700fs)
|
|
|
|
NM_001267550.2(TTN):c.50163T>G (p.Tyr16721Ter)
|
|
|
|
NM_001267550.2(TTN):c.50281_50284del (p.Val16761fs)
|
|
|
|
NM_001267550.2(TTN):c.50316G>A (p.Trp16772Ter)
|
rs1433307898
|
|
|
NM_001267550.2(TTN):c.50358T>A (p.Tyr16786Ter)
|
rs72677249
|
|
|
NM_001267550.2(TTN):c.50467C>T (p.Gln16823Ter)
|
|
|
|
NM_001267550.2(TTN):c.50467_50468del (p.Gln16823fs)
|
|
|
|
NM_001267550.2(TTN):c.50487_50490dup (p.Glu16831delinsLysTer)
|
rs1553696967
|
|
|
NM_001267550.2(TTN):c.50552-1G>A
|
|
|
|
NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter)
|
rs397517601
|
|
|
NM_001267550.2(TTN):c.50657_50660dup (p.Tyr16887Ter)
|
rs2056330918
|
|
|
NM_001267550.2(TTN):c.50692A>T (p.Lys16898Ter)
|
|
|
|
NM_001267550.2(TTN):c.50723del (p.Lys16908fs)
|
|
|
|
NM_001267550.2(TTN):c.50746del (p.Glu16916fs)
|
|
|
|
NM_001267550.2(TTN):c.50787_50788del (p.Arg16929fs)
|
|
|
|
NM_001267550.2(TTN):c.50857+1G>A
|
rs2154199718
|
|
|
NM_001267550.2(TTN):c.50859C>A (p.Cys16953Ter)
|
rs2154199623
|
|
|
NM_001267550.2(TTN):c.50860A>T (p.Lys16954Ter)
|
rs794729268
|
|
|
NM_001267550.2(TTN):c.50914_50918del (p.Leu16972fs)
|
rs2056249919
|
|
|
NM_001267550.2(TTN):c.50994_50997dup (p.Arg17000Ter)
|
rs1413836585
|
|
|
NM_001267550.2(TTN):c.51037G>T (p.Glu17013Ter)
|
rs1060500500
|
|
|
NM_001267550.2(TTN):c.51060dup (p.Asp17021fs)
|
rs2154199483
|
|
|
NM_001267550.2(TTN):c.51136+1del
|
rs2154199433
|
|
|
NM_001267550.2(TTN):c.51193A>T (p.Lys17065Ter)
|
|
|
|
NM_001267550.2(TTN):c.51203_51224dup (p.Thr17077_Pro17078insSerArgIleTerGlyThr)
|
rs2154198963
|
|
|
NM_001267550.2(TTN):c.51229_51230del (p.Thr17077fs)
|
rs2056008282
|
|
|
NM_001267550.2(TTN):c.51234_51237dup (p.Leu17080fs)
|
rs1553693444
|
|
|
NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter)
|
rs906494713
|
|
|
NM_001267550.2(TTN):c.51444del (p.Asp17149fs)
|
rs1362409861
|
|
|
NM_001267550.2(TTN):c.51449del (p.Pro17150fs)
|
rs2055912067
|
|
|
NM_001267550.2(TTN):c.51459_51462del (p.Asp17153fs)
|
rs886043718
|
|
|
NM_001267550.2(TTN):c.51524dup (p.Gly17176fs)
|
|
|
|
NM_001267550.2(TTN):c.51525del (p.Ser17177fs)
|
rs1553692435
|
|
|
NM_001267550.2(TTN):c.51544_51545del (p.Tyr17182fs)
|
|
|
|
NM_001267550.2(TTN):c.51574G>T (p.Glu17192Ter)
|
|
|
|
NM_001267550.2(TTN):c.51576_51577del (p.Arg17193fs)
|
rs2154198710
|
|
|
NM_001267550.2(TTN):c.51624_51654dup (p.Gln17219delinsSerLysArgThrTer)
|
rs1553692107
|
|
|
NM_001267550.2(TTN):c.51648del (p.Glu17217fs)
|
rs1553692140
|
|
|
NM_001267550.2(TTN):c.51649G>T (p.Glu17217Ter)
|
rs1060500503
|
|
|
NM_001267550.2(TTN):c.51667C>T (p.Arg17223Ter)
|
rs748956593
|
|
|
NM_001267550.2(TTN):c.51739+1G>C
|
rs727504799
|
|
|
NM_001267550.2(TTN):c.51782del (p.Arg17261fs)
|
rs2154198520
|
|
|
NM_001267550.2(TTN):c.51804_51805insCCAGTGCTATG (p.Ala17269fs)
|
rs2154198510
|
|
|
NM_001267550.2(TTN):c.51833_51848del (p.Thr17278fs)
|
rs794729391
|
|
|
NM_001267550.2(TTN):c.51834_51838dup (p.Thr17280fs)
|
rs2154198494
|
|
|
NM_001267550.2(TTN):c.51843G>A (p.Trp17281Ter)
|
rs1559759828
|
|
|
NM_001267550.2(TTN):c.51870del (p.Glu17291fs)
|
rs1553691320
|
|
|
NM_001267550.2(TTN):c.51871G>T (p.Glu17291Ter)
|
|
|
|
NM_001267550.2(TTN):c.51913A>T (p.Lys17305Ter)
|
|
|
|
NM_001267550.2(TTN):c.51913_51916del (p.Lys17305fs)
|
rs747513278
|
|
|
NM_001267550.2(TTN):c.51919G>T (p.Glu17307Ter)
|
rs2154198436
|
|
|
NM_001267550.2(TTN):c.51925C>T (p.Gln17309Ter)
|
|
|
|
NM_001267550.2(TTN):c.51931G>T (p.Glu17311Ter)
|
rs2154198430
|
|
|
NM_001267550.2(TTN):c.51958C>T (p.Gln17320Ter)
|
rs2055753321
|
|
|
NM_001267550.2(TTN):c.51965dup (p.Leu17322fs)
|
|
|
|
NM_001267550.2(TTN):c.52063_52064insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATNNNNNNNNNNNNGAAAATGACC (p.Asp17354_His17355insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspXaaXaaXaaXaaGluAsnAsp)
|
rs2154198326
|
|
|
NM_001267550.2(TTN):c.52077A>T (p.Lys17359Asn)
|
rs1167384081
|
|
|
NM_001267550.2(TTN):c.52103-1G>A
|
rs2154197995
|
|
|
NM_001267550.2(TTN):c.52150dup (p.Thr17384fs)
|
rs2154197954
|
|
|
NM_001267550.2(TTN):c.52226_52227del (p.Lys17409fs)
|
rs2055549415
|
|
|
NM_001267550.2(TTN):c.52226_52229del (p.Lys17409fs)
|
rs727503615
|
|
|
NM_001267550.2(TTN):c.52233_52237del (p.Lys17413fs)
|
rs2055544893
|
|
|
NM_001267550.2(TTN):c.52316_52317dup (p.Glu17440fs)
|
|
|
|
NM_001267550.2(TTN):c.52317dup (p.Glu17440fs)
|
|
|
|
NM_001267550.2(TTN):c.52358del (p.Pro17453fs)
|
rs2154197774
|
|
|
NM_001267550.2(TTN):c.52405+1G>T
|
|
|
|
NM_001267550.2(TTN):c.52405+2T>C
|
|
|
|
NM_001267550.2(TTN):c.52473G>A (p.Trp17491Ter)
|
rs794729271
|
|
|
NM_001267550.2(TTN):c.52499_52504delinsAGTAA (p.Pro17500_Leu17502delinsGlnTer)
|
rs1559748217
|
|
|
NM_001267550.2(TTN):c.52512C>G (p.Tyr17504Ter)
|
rs1559748120
|
|
|
NM_001267550.2(TTN):c.52546del (p.Trp17516fs)
|
|
|
|
NM_001267550.2(TTN):c.52551del (p.Arg17518fs)
|
|
|
|
NM_001267550.2(TTN):c.52567del (p.Leu17523fs)
|
|
|
|
NM_001267550.2(TTN):c.52576_52603del (p.Asn17525_Ala17526insTer)
|
rs1064792915
|
|
|
NM_001267550.2(TTN):c.52604T>G (p.Leu17535Ter)
|
|
|
|
NM_001267550.2(TTN):c.52619_52620del (p.Tyr17540fs)
|
|
|
|
NM_001267550.2(TTN):c.52694_52695del (p.His17565fs)
|
|
|
|
NM_001267550.2(TTN):c.52706-1G>C
|
rs2055351447
|
|
|
NM_001267550.2(TTN):c.52706-1G>T
|
|
|
|
NM_001267550.2(TTN):c.52731_52732del (p.Arg17577fs)
|
rs878854315
|
|
|
NM_001267550.2(TTN):c.52736del (p.Thr17579fs)
|
rs2154197312
|
|
|
NM_001267550.2(TTN):c.52767dup (p.Trp17590fs)
|
rs2154197298
|
|
|
NM_001267550.2(TTN):c.52778del (p.Pro17593fs)
|
|
|
|
NM_001267550.2(TTN):c.52801del (p.Ile17601fs)
|
rs2154197283
|
|
|
NM_001267550.2(TTN):c.52825del (p.Gln17609fs)
|
rs2055323171
|
|
|
NM_001267550.2(TTN):c.52847G>A (p.Trp17616Ter)
|
rs2055319182
|
|
|
NM_001267550.2(TTN):c.52903C>T (p.Arg17635Ter)
|
rs2154197219
|
|
|
NM_001267550.2(TTN):c.52924_52930dup (p.Val17644fs)
|
rs2055292474
|
|
|
NM_001267550.2(TTN):c.52975C>T (p.Gln17659Ter)
|
rs2154197188
|
|
|
NM_001267550.2(TTN):c.53003-1G>C
|
rs2154197076
|
|
|
NM_001267550.2(TTN):c.53012_53030del (p.Ala17671fs)
|
|
|
|
NM_001267550.2(TTN):c.53026_53027del (p.Val17676fs)
|
|
|
|
NM_001267550.2(TTN):c.53041G>T (p.Gly17681Ter)
|
|
|
|
NM_001267550.2(TTN):c.53047C>T (p.Gln17683Ter)
|
rs2154197059
|
|
|
NM_001267550.2(TTN):c.53068_53069del (p.Thr17689_Leu17690insTer)
|
rs2154197040
|
|
|
NM_001267550.2(TTN):c.53182G>T (p.Glu17728Ter)
|
|
|
|
NM_001267550.2(TTN):c.53206C>T (p.Arg17736Ter)
|
rs571702144
|
|
|
NM_001267550.2(TTN):c.53259del (p.Lys17753fs)
|
rs1389777522
|
|
|
NM_001267550.2(TTN):c.53287+1G>A
|
rs1064794266
|
|
|
NM_001267550.2(TTN):c.53315_53316del (p.Lys17772fs)
|
rs2154196835
|
|
|
NM_001267550.2(TTN):c.53354G>A (p.Trp17785Ter)
|
|
|
|
NM_001267550.2(TTN):c.53359del (p.Asp17787fs)
|
rs2055103568
|
|
|
NM_001267550.2(TTN):c.53374G>T (p.Gly17792Ter)
|
rs2055101555
|
|
|
NM_001267550.2(TTN):c.53456_53457del (p.Arg17819fs)
|
|
|
|
NM_001267550.2(TTN):c.53526del (p.Lys17842fs)
|
rs2154196732
|
|
|
NM_001267550.2(TTN):c.53564_53581+6del
|
|
|
|
NM_001267550.2(TTN):c.53581+1del
|
|
|
|
NM_001267550.2(TTN):c.53582-1G>A
|
rs2054612323
|
|
|
NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter)
|
rs1131691381
|
|
|
NM_001267550.2(TTN):c.53602_53603del (p.Arg17868fs)
|
|
|
|
NM_001267550.2(TTN):c.53616del (p.Glu17873fs)
|
|
|
|
NM_001267550.2(TTN):c.53703dup (p.Arg17902fs)
|
rs1576340321
|
|
|
NM_001267550.2(TTN):c.53770del (p.Val17924fs)
|
rs1559723763
|
|
|
NM_001267550.2(TTN):c.53789_53790del (p.His17930fs)
|
|
|
|
NM_001267550.2(TTN):c.53824G>T (p.Glu17942Ter)
|
rs2054564830
|
|
|
NM_001267550.2(TTN):c.53831del (p.Gly17944fs)
|
|
|
|
NM_001267550.2(TTN):c.53848dup (p.Leu17950fs)
|
rs1553682760
|
|
|
NM_001267550.2(TTN):c.53914C>T (p.Arg17972Ter)
|
|
|
|
NM_001267550.2(TTN):c.53997dup (p.Trp18000fs)
|
|
|
|
NM_001267550.2(TTN):c.54000G>A (p.Trp18000Ter)
|
rs72646813
|
|
|
NM_001267550.2(TTN):c.54037del (p.Ala18013fs)
|
|
|
|
NM_001267550.2(TTN):c.54112del (p.Glu18038fs)
|
rs794729325
|
|
|
NM_001267550.2(TTN):c.54190+1G>A
|
rs756339648
|
|
|
NM_001267550.2(TTN):c.54228del (p.Asp18076fs)
|
|
|
|
NM_001267550.2(TTN):c.54257G>A (p.Trp18086Ter)
|
rs2154195201
|
|
|
NM_001267550.2(TTN):c.54314_54381+139delinsATAAGG
|
rs1576327348
|
|
|
NM_001267550.2(TTN):c.54320dup (p.Ser18108fs)
|
rs2054384043
|
|
|
NM_001267550.2(TTN):c.54378T>A (p.Tyr18126Ter)
|
rs769624146
|
|
|
NM_001267550.2(TTN):c.54387G>A (p.Trp18129Ter)
|
rs1576323463
|
|
|
NM_001267550.2(TTN):c.54427del (p.Ala18143fs)
|
|
|
|
NM_001267550.2(TTN):c.54481C>T (p.Gln18161Ter)
|
rs2054207747
|
|
|
NM_001267550.2(TTN):c.54500_54509del (p.Pro18167fs)
|
|
|
|
NM_001267550.2(TTN):c.54514A>T (p.Lys18172Ter)
|
|
|
|
NM_001267550.2(TTN):c.54529del (p.Ala18177fs)
|
|
|
|
NM_001267550.2(TTN):c.54560G>A (p.Trp18187Ter)
|
rs794729274
|
|
|
NM_001267550.2(TTN):c.54588_54589del (p.Pro18197fs)
|
|
|
|
NM_001267550.2(TTN):c.54605G>A (p.Trp18202Ter)
|
rs2154194712
|
|
|
NM_001267550.2(TTN):c.54620_54624del (p.Glu18207fs)
|
rs2054170313
|
|
|
NM_001267550.2(TTN):c.54636T>G (p.Tyr18212Ter)
|
rs397517620
|
|
|
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter)
|
rs727503602
|
|
|
NM_001267550.2(TTN):c.54652C>T (p.Arg18218Ter)
|
|
|
|
NM_001267550.2(TTN):c.5477del (p.Gly1826fs)
|
rs2154346135
|
|
|
NM_001267550.2(TTN):c.54793del (p.Val18265fs)
|
rs2154194616
|
|
|
NM_001267550.2(TTN):c.54809dup (p.Phe18271fs)
|
rs1553679072
|
|
|
NM_001267550.2(TTN):c.54811+1G>A
|
rs1205836993
|
|
|
NM_001267550.2(TTN):c.54812-1G>C
|
|
|
|
NM_001267550.2(TTN):c.54812-1G>T
|
rs1416873295
|
|
|
NM_001267550.2(TTN):c.54856A>T (p.Lys18286Ter)
|
|
|
|
NM_001267550.2(TTN):c.54957G>A (p.Trp18319Ter)
|
rs2053697356
|
|
|
NM_001267550.2(TTN):c.54999dup (p.Cys18334fs)
|
|
|
|
NM_001267550.2(TTN):c.55036A>T (p.Arg18346Ter)
|
rs2053680009
|
|
|
NM_001267550.2(TTN):c.55117C>T (p.Gln18373Ter)
|
rs2053658622
|
|
|
NM_001267550.2(TTN):c.55119del (p.Glu18374fs)
|
rs2154193527
|
|
|
NM_001267550.2(TTN):c.55120_55120+3del
|
|
|
|
NM_001267550.2(TTN):c.55121-1G>A
|
rs1576297857
|
|
|
NM_001267550.2(TTN):c.55129_55130insC (p.Glu18377fs)
|
rs2154193431
|
|
|
NM_001267550.2(TTN):c.55153C>T (p.Gln18385Ter)
|
rs1559696193
|
|
|
NM_001267550.2(TTN):c.55156_55165del (p.Asp18386fs)
|
rs1553674975
|
|
|
NM_001267550.2(TTN):c.55168del (p.Cys18390fs)
|
|
|
|
NM_001267550.2(TTN):c.55173dup (p.Ala18392fs)
|
rs2154193411
|
|
|
NM_001267550.2(TTN):c.55235G>A (p.Trp18412Ter)
|
rs2053599652
|
|
|
NM_001267550.2(TTN):c.55269+1del
|
rs2154193352
|
|
|
NM_001267550.2(TTN):c.55366_55372dup (p.Ser18458fs)
|
|
|
|
NM_001267550.2(TTN):c.55399C>T (p.Gln18467Ter)
|
rs2154193077
|
|
|
NM_001267550.2(TTN):c.55403dup (p.Thr18469fs)
|
|
|
|
NM_001267550.2(TTN):c.55425dup (p.Val18476fs)
|
|
|
|
NM_001267550.2(TTN):c.55432+1G>A
|
rs2053485503
|
|
|
NM_001267550.2(TTN):c.55432+1G>T
|
|
|
|
NM_001267550.2(TTN):c.55460_55461del (p.Lys18487fs)
|
rs1064796230
|
|
|
NM_001267550.2(TTN):c.55541_55542del (p.Tyr18514fs)
|
rs1218695159
|
|
|
NM_001267550.2(TTN):c.55578G>A (p.Trp18526Ter)
|
|
|
|
NM_001267550.2(TTN):c.55639C>T (p.Gln18547Ter)
|
rs2053403381
|
|
|
NM_001267550.2(TTN):c.55719del (p.Arg18574fs)
|
rs2154192801
|
|
|
NM_001267550.2(TTN):c.55728del (p.Ile18577fs)
|
|
|
|
NM_001267550.2(TTN):c.55734T>A (p.Tyr18578Ter)
|
rs2154192691
|
|
|
NM_001267550.2(TTN):c.55755dup (p.Leu18586fs)
|
rs2154192678
|
|
|
NM_001267550.2(TTN):c.55796C>A (p.Ser18599Ter)
|
rs2053315643
|
|
|
NM_001267550.2(TTN):c.55802_55803del (p.Lys18601fs)
|
|
|
|
NM_001267550.2(TTN):c.55808dup (p.Lys18604fs)
|
|
|
|
NM_001267550.2(TTN):c.55884_55887del (p.Glu18629fs)
|
rs2154192604
|
|
|
NM_001267550.2(TTN):c.55885G>T (p.Glu18629Ter)
|
|
|
|
NM_001267550.2(TTN):c.55927C>T (p.Gln18643Ter)
|
|
|
|
NM_001267550.2(TTN):c.55972C>T (p.Arg18658Ter)
|
rs764985774
|
|
|
NM_001267550.2(TTN):c.56050+1G>A
|
|
|
|
NM_001267550.2(TTN):c.56052C>A (p.Cys18684Ter)
|
|
|
|
NM_001267550.2(TTN):c.56089G>T (p.Glu18697Ter)
|
rs1391010387
|
|
|
NM_001267550.2(TTN):c.56122del (p.Ile18708fs)
|
rs2154191490
|
|
|
NM_001267550.2(TTN):c.56153G>A (p.Trp18718Ter)
|
rs1477101279
|
|
|
NM_001267550.2(TTN):c.56200_56215dup (p.Asn18739delinsIleTer)
|
|
|
|
NM_001267550.2(TTN):c.56257C>T (p.Gln18753Ter)
|
rs1559669986
|
|
|
NM_001267550.2(TTN):c.56275_56276dup (p.Gly18760fs)
|
|
|
|
NM_001267550.2(TTN):c.56286dup (p.Thr18763fs)
|
rs2154191397
|
|
|
NM_001267550.2(TTN):c.56287_56288dup (p.Ile18764fs)
|
|
|
|
NM_001267550.2(TTN):c.56347+1G>A
|
rs1576251664
|
|
|
NM_001267550.2(TTN):c.56347+31_56395del
|
|
|
|
NM_001267550.2(TTN):c.56348-1G>A
|
rs2052685102
|
|
|
NM_001267550.2(TTN):c.56387_56388del (p.Ser18796fs)
|
|
|
|
NM_001267550.2(TTN):c.56401C>T (p.Gln18801Ter)
|
|
|
|
NM_001267550.2(TTN):c.56417G>A (p.Trp18806Ter)
|
rs2154191239
|
|
|
NM_001267550.2(TTN):c.56487del (p.Lys18830fs)
|
|
|
|
NM_001267550.2(TTN):c.56495G>A (p.Trp18832Ter)
|
rs1576247054
|
|
|
NM_001267550.2(TTN):c.56564_56576del (p.Tyr18855fs)
|
rs1294679653
|
|
|
NM_001267550.2(TTN):c.56584C>T (p.Gln18862Ter)
|
|
|
|
NM_001267550.2(TTN):c.56598del (p.Ile18867fs)
|
rs1553664644
|
|
|
NM_001267550.2(TTN):c.56645del (p.Phe18882fs)
|
rs2052619475
|
|
|
NM_001267550.2(TTN):c.56647+1G>A
|
rs397517624
|
|
|
NM_001267550.2(TTN):c.56679dup (p.Ser18894Ter)
|
rs2052563186
|
|
|
NM_001267550.2(TTN):c.56715G>A (p.Trp18905Ter)
|
|
|
|
NM_001267550.2(TTN):c.56741del (p.Ser18914fs)
|
rs1553663867
|
|
|
NM_001267550.2(TTN):c.56759G>A (p.Trp18920Ter)
|
rs2154190939
|
|
|
NM_001267550.2(TTN):c.56783C>A (p.Ser18928Ter)
|
rs1576240126
|
|
|
NM_001267550.2(TTN):c.56790_56792dup (p.Trp18931Ter)
|
|
|
|
NM_001267550.2(TTN):c.56792G>A (p.Trp18931Ter)
|
rs1060500526
|
|
|
NM_001267550.2(TTN):c.56794A>T (p.Lys18932Ter)
|
rs2154190918
|
|
|
NM_001267550.2(TTN):c.56795del (p.Lys18932fs)
|
|
|
|
NM_001267550.2(TTN):c.56830_56831del (p.Leu18944fs)
|
|
|
|
NM_001267550.2(TTN):c.56853del (p.Gly18952fs)
|
rs794729392
|
|
|
NM_001267550.2(TTN):c.56900_56901del (p.Asn18967fs)
|
|
|
|
NM_001267550.2(TTN):c.56933C>G (p.Ser18978Ter)
|
|
|
|
NM_001267550.2(TTN):c.56941_56957del (p.Ala18981fs)
|
rs2154190805
|
|
|
NM_001267550.2(TTN):c.56949del (p.Arg18984fs)
|
|
|
|
NM_001267550.2(TTN):c.56962+1G>A
|
|
|
|
NM_001267550.2(TTN):c.56999G>A (p.Trp19000Ter)
|
|
|
|
NM_001267550.2(TTN):c.57008C>A (p.Ser19003Ter)
|
rs878854318
|
|
|
NM_001267550.2(TTN):c.57030del (p.Pro19012fs)
|
rs2154190616
|
|
|
NM_001267550.2(TTN):c.57035dup (p.Leu19013fs)
|
rs1553662457
|
|
|
NM_001267550.2(TTN):c.57041_57044del (p.Lys19014fs)
|
|
|
|
NM_001267550.2(TTN):c.57057del (p.Lys19019_Val19020insTer)
|
rs1553662326
|
|
|
NM_001267550.2(TTN):c.57069C>G (p.Tyr19023Ter)
|
|
|
|
NM_001267550.2(TTN):c.57111_57111+9del
|
rs1553661994
|
|
|
NM_001267550.2(TTN):c.57112-1G>A
|
rs2154190178
|
|
|
NM_001267550.2(TTN):c.57112-1G>C
|
rs2154190178
|
|
|
NM_001267550.2(TTN):c.57115A>T (p.Lys19039Ter)
|
|
|
|
NM_001267550.2(TTN):c.57230_57231del (p.Val19077fs)
|
|
|
|
NM_001267550.2(TTN):c.57233_57234del (p.Thr19078fs)
|
|
|
|
NM_001267550.2(TTN):c.57250A>T (p.Lys19084Ter)
|
rs2052181050
|
|
|
NM_001267550.2(TTN):c.57277C>T (p.Gln19093Ter)
|
|
|
|
NM_001267550.2(TTN):c.57295_57296insC (p.Arg19099fs)
|
rs2154189974
|
|
|
NM_001267550.2(TTN):c.57300_57303dup (p.Ile19102Ter)
|
rs1553659902
|
|
|
NM_001267550.2(TTN):c.57345T>A (p.Tyr19115Ter)
|
|
|
|
NM_001267550.2(TTN):c.57354_57364del (p.Lys19119fs)
|
|
|
|
NM_001267550.2(TTN):c.57363del (p.Pro19122fs)
|
rs2154189911
|
|
|
NM_001267550.2(TTN):c.57388G>T (p.Glu19130Ter)
|
rs1553659628
|
|
|
NM_001267550.2(TTN):c.57494_57495insTC (p.Lys19166fs)
|
|
|
|
NM_001267550.2(TTN):c.57544+1G>A
|
rs2052045274
|
|
|
NM_001267550.2(TTN):c.57545-2A>G
|
|
|
|
NM_001267550.2(TTN):c.57558del (p.Val19187fs)
|
rs1576186406
|
|
|
NM_001267550.2(TTN):c.57692G>A (p.Trp19231Ter)
|
rs267599044
|
|
|
NM_001267550.2(TTN):c.57710_57711del (p.Thr19237fs)
|
|
|
|
NM_001267550.2(TTN):c.57718C>T (p.Arg19240Ter)
|
rs2051361827
|
|
|
NM_001267550.2(TTN):c.57746_57749del (p.Ile19249fs)
|
|
|
|
NM_001267550.2(TTN):c.57748C>T (p.Gln19250Ter)
|
|
|
|
NM_001267550.2(TTN):c.57854del (p.Pro19285fs)
|
|
|
|
NM_001267550.2(TTN):c.57897del (p.Asn19299fs)
|
rs2051003587
|
|
|
NM_001267550.2(TTN):c.57998_57999del (p.Lys19333fs)
|
|
|
|
NM_001267550.2(TTN):c.58033del (p.Thr19345fs)
|
rs2154187247
|
|
|
NM_001267550.2(TTN):c.58095dup (p.Gly19366fs)
|
|
|
|
NM_001267550.2(TTN):c.58117dup (p.Cys19373fs)
|
|
|
|
NM_001267550.2(TTN):c.58151-2A>G
|
rs2154187087
|
|
|
NM_001267550.2(TTN):c.58176del (p.Phe19392fs)
|
|
|
|
NM_001267550.2(TTN):c.58208del (p.Ala19403fs)
|
rs2154187038
|
|
|
NM_001267550.2(TTN):c.58228del (p.Tyr19410fs)
|
|
|
|
NM_001267550.2(TTN):c.58244del (p.Lys19415fs)
|
|
|
|
NM_001267550.2(TTN):c.58252del (p.Val19418fs)
|
|
|
|
NM_001267550.2(TTN):c.58258del (p.Trp19420fs)
|
rs2050888713
|
|
|
NM_001267550.2(TTN):c.58259G>A (p.Trp19420Ter)
|
rs869025544
|
|
|
NM_001267550.2(TTN):c.58260G>A (p.Trp19420Ter)
|
|
|
|
NM_001267550.2(TTN):c.58304_58317del (p.Ile19435fs)
|
rs2154186968
|
|
|
NM_001267550.2(TTN):c.58327del (p.Ala19443fs)
|
|
|
|
NM_001267550.2(TTN):c.58368dup (p.Tyr19457fs)
|
rs2050860445
|
|
|
NM_001267550.2(TTN):c.58388del (p.Asn19463fs)
|
rs2050854171
|
|
|
NM_001267550.2(TTN):c.58390del (p.Ser19464fs)
|
rs2154186900
|
|
|
NM_001267550.2(TTN):c.58413_58414del (p.Phe19471fs)
|
rs2154186876
|
|
|
NM_001267550.2(TTN):c.58417C>T (p.Gln19473Ter)
|
|
|
|
NM_001267550.2(TTN):c.58432+2T>C
|
rs796197320
|
|
|
NM_001267550.2(TTN):c.58474_58480del (p.Val19492fs)
|
|
|
|
NM_001267550.2(TTN):c.58545T>A (p.Tyr19515Ter)
|
rs1195475569
|
|
|
NM_001267550.2(TTN):c.58568del (p.Gly19523fs)
|
rs1553650442
|
|
|
NM_001267550.2(TTN):c.58581G>A (p.Trp19527Ter)
|
rs2154186640
|
|
|
NM_001267550.2(TTN):c.58620del (p.Val19541fs)
|
rs1576147786
|
|
|
NM_001267550.2(TTN):c.58799G>A (p.Trp19600Ter)
|
|
|
|
NM_001267550.2(TTN):c.58850del (p.Lys19617fs)
|
rs2050657361
|
|
|
NM_001267550.2(TTN):c.58858_58859del (p.Thr19620fs)
|
rs2154186303
|
|
|
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter)
|
rs1553649171
|
|
|
NM_001267550.2(TTN):c.58874G>A (p.Trp19625Ter)
|
rs1553649122
|
|
|
NM_001267550.2(TTN):c.59109_59112dup (p.Arg19705fs)
|
rs1553648246
|
|
|
NM_001267550.2(TTN):c.59127del (p.Ser19710fs)
|
rs2050559188
|
|
|
NM_001267550.2(TTN):c.59132del (p.Lys19711fs)
|
|
|
|
NM_001267550.2(TTN):c.59158C>T (p.Gln19720Ter)
|
|
|
|
NM_001267550.2(TTN):c.59174_59175del (p.Glu19725fs)
|
|
|
|
NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs)
|
rs752948913
|
|
|
NM_001267550.2(TTN):c.59201dup (p.Pro19734_Glu19735insTer)
|
rs2154185983
|
|
|
NM_001267550.2(TTN):c.59205del (p.Glu19735fs)
|
rs397517643
|
|
|
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs)
|
rs886039027
|
|
|
NM_001267550.2(TTN):c.59397dup (p.Val19800fs)
|
|
|
|
NM_001267550.2(TTN):c.59402del (p.Gly19801fs)
|
rs1064793367
|
|
|
NM_001267550.2(TTN):c.59411dup (p.Arg19805fs)
|
rs755261062
|
|
|
NM_001267550.2(TTN):c.59451dup (p.Val19818fs)
|
|
|
|
NM_001267550.2(TTN):c.59458del (p.Trp19820fs)
|
|
|
|
NM_001267550.2(TTN):c.59466dup (p.Glu19823fs)
|
rs2154185712
|
|
|
NM_001267550.2(TTN):c.59531_59570dup (p.Leu19857delinsPheSerTer)
|
rs1064792914
|
|
|
NM_001267550.2(TTN):c.59535del (p.Asn19846fs)
|
rs1559602980
|
|
|
NM_001267550.2(TTN):c.59570_59571insTTTTTTTTTTNNNNNNNNNNCAGATGGAAATGCAGAAATCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCCCGGAATTTATTCTTT (p.Leu19857fs)
|
rs2154185645
|
|
|
NM_001267550.2(TTN):c.59583_59599dup (p.Thr19867fs)
|
rs2154185625
|
|
|
NM_001267550.2(TTN):c.59598_59599dup (p.Thr19867fs)
|
rs2154185622
|
|
|
NM_001267550.2(TTN):c.59647_59648del (p.Asp19883fs)
|
rs878854322
|
|
|
NM_001267550.2(TTN):c.59730del (p.Asn19911fs)
|
|
|
|
NM_001267550.2(TTN):c.59763del (p.Ser19921fs)
|
rs1559599859
|
|
|
NM_001267550.2(TTN):c.59767C>T (p.Gln19923Ter)
|
|
|
|
NM_001267550.2(TTN):c.59802del (p.Ser19935fs)
|
|
|
|
NM_001267550.2(TTN):c.59841C>A (p.Tyr19947Ter)
|
rs1413760246
|
|
|
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter)
|
rs1559598775
|
|
|
NM_001267550.2(TTN):c.59903del (p.Pro19968fs)
|
rs2154185335
|
|
|
NM_001267550.2(TTN):c.59906_59924delinsAA (p.Ile19969fs)
|
rs2050313754
|
|
|
NM_001267550.2(TTN):c.59917del (p.Asp19973fs)
|
rs2050315855
|
|
|
NM_001267550.2(TTN):c.59977G>T (p.Glu19993Ter)
|
rs1085307825
|
|
|
NM_001267550.2(TTN):c.59994G>A (p.Trp19998Ter)
|
rs2154185221
|
|
|
NM_001267550.2(TTN):c.59997del (p.Asn19999fs)
|
rs2154185219
|
|
|
NM_001267550.2(TTN):c.60049C>T (p.Gln20017Ter)
|
|
|
|
NM_001267550.2(TTN):c.60121C>T (p.Gln20041Ter)
|
rs794729277
|
|
|
NM_001267550.2(TTN):c.60258del (p.Gly20087fs)
|
rs2154184977
|
|
|
NM_001267550.2(TTN):c.60263_60264del (p.Leu20088fs)
|
rs1559592415
|
|
|
NM_001267550.2(TTN):c.60284_60285del (p.Thr20095fs)
|
rs1553644362
|
|
|
NM_001267550.2(TTN):c.60348del (p.Ser20117fs)
|
|
|
|
NM_001267550.2(TTN):c.60359_60371del (p.Lys20120fs)
|
rs2154184904
|
|
|
NM_001267550.2(TTN):c.60433_60434dup (p.Asp20145fs)
|
|
|
|
NM_001267550.2(TTN):c.60442dup (p.Glu20148fs)
|
|
|
|
NM_001267550.2(TTN):c.60447T>G (p.Tyr20149Ter)
|
rs1553644047
|
|
|
NM_001267550.2(TTN):c.60455_60456del (p.Thr20152fs)
|
rs2154184873
|
|
|
NM_001267550.2(TTN):c.60457_60460del (p.Val20153fs)
|
|
|
|
NM_001267550.2(TTN):c.60493dup (p.His20165fs)
|
|
|
|
NM_001267550.2(TTN):c.60565_60566del (p.Met20189fs)
|
|
|
|
NM_001267550.2(TTN):c.60581del (p.Gln20194fs)
|
rs1559589139
|
|
|
NM_001267550.2(TTN):c.60621del (p.Asn20206_Tyr20207insTer)
|
rs1060500442
|
|
|
NM_001267550.2(TTN):c.60760del (p.Val20254fs)
|
rs2050086519
|
|
|
NM_001267550.2(TTN):c.60801_60802insTAAA (p.Lys20268Ter)
|
|
|
|
NM_001267550.2(TTN):c.60831del (p.Lys20277fs)
|
rs2050068938
|
|
|
NM_001267550.2(TTN):c.60853dup (p.Glu20285fs)
|
rs2154184643
|
|
|
NM_001267550.2(TTN):c.60865dup (p.Thr20289fs)
|
rs1553643260
|
|
|
NM_001267550.2(TTN):c.60918C>G (p.Tyr20306Ter)
|
|
|
|
NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter)
|
rs869312055
|
|
|
NM_001267550.2(TTN):c.60961_60962dup (p.Asn20321fs)
|
|
|
|
NM_001267550.2(TTN):c.60993_60994del (p.Arg20331fs)
|
rs2154184570
|
|
|
NM_001267550.2(TTN):c.61009G>T (p.Glu20337Ter)
|
rs2050024892
|
|
|
NM_001267550.2(TTN):c.61012G>T (p.Gly20338Ter)
|
|
|
|
NM_001267550.2(TTN):c.61024_61028del (p.Tyr20341_Glu20342insTer)
|
|
|
|
NM_001267550.2(TTN):c.61079del (p.Ser20360fs)
|
|
|
|
NM_001267550.2(TTN):c.61269del (p.Asp20424fs)
|
rs1060500420
|
|
|
NM_001267550.2(TTN):c.61290T>A (p.Cys20430Ter)
|
|
|
|
NM_001267550.2(TTN):c.61297del (p.Arg20433fs)
|
rs2154184377
|
|
|
NM_001267550.2(TTN):c.61323dup (p.Glu20442Ter)
|
|
|
|
NM_001267550.2(TTN):c.61324G>T (p.Glu20442Ter)
|
rs751412533
|
|
|
NM_001267550.2(TTN):c.61367del (p.Gly20456fs)
|
rs2154184341
|
|
|
NM_001267550.2(TTN):c.61369G>T (p.Glu20457Ter)
|
rs2049944547
|
|
|
NM_001267550.2(TTN):c.61394_61395del (p.Val20465fs)
|
rs2154184320
|
|
|
NM_001267550.2(TTN):c.61515del (p.Glu20505fs)
|
rs2154184240
|
|
|
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter)
|
rs794729278
|
|
|
NM_001267550.2(TTN):c.61614del (p.Ala20539fs)
|
|
|
|
NM_001267550.2(TTN):c.61655del (p.Lys20552fs)
|
|
|
|
NM_001267550.2(TTN):c.61675C>T (p.Gln20559Ter)
|
|
|
|
NM_001267550.2(TTN):c.61682C>G (p.Ser20561Ter)
|
rs1114167324
|
|
|
NM_001267550.2(TTN):c.61757_61758del (p.Cys20586fs)
|
rs1264036094
|
|
|
NM_001267550.2(TTN):c.61765dup (p.Ser20589fs)
|
|
|
|
NM_001267550.2(TTN):c.61830dup (p.Pro20611fs)
|
rs2154184083
|
|
|
NM_001267550.2(TTN):c.61847G>A (p.Trp20616Ter)
|
rs1576077909
|
|
|
NM_001267550.2(TTN):c.61850C>G (p.Ser20617Ter)
|
rs2154184066
|
|
|
NM_001267550.2(TTN):c.61977del (p.Ile20660fs)
|
rs2154183984
|
|
|
NM_001267550.2(TTN):c.62075del (p.Pro20692fs)
|
rs2154183927
|
|
|
NM_001267550.2(TTN):c.62109T>A (p.Tyr20703Ter)
|
rs2154183898
|
|
|
NM_001267550.2(TTN):c.62128_63102delinsGA (p.Lys20710fs)
|
rs2049572412
|
|
|
NM_001267550.2(TTN):c.62129dup (p.Ser20712fs)
|
rs886039913
|
|
|
NM_001267550.2(TTN):c.62131_62135dup (p.Asp20713fs)
|
|
|
|
NM_001267550.2(TTN):c.62184C>A (p.Tyr20728Ter)
|
|
|
|
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter)
|
rs727503586
|
|
|
NM_001267550.2(TTN):c.62251dup (p.Glu20751fs)
|
|
|
|
NM_001267550.2(TTN):c.62302A>T (p.Lys20768Ter)
|
|
|
|
NM_001267550.2(TTN):c.62337_62340del (p.Thr20780fs)
|
rs2154183737
|
|
|
NM_001267550.2(TTN):c.62374_62378del (p.Ala20791_Gly20792insTer)
|
|
|
|
NM_001267550.2(TTN):c.62408G>A (p.Trp20803Ter)
|
|
|
|
NM_001267550.2(TTN):c.62409G>A (p.Trp20803Ter)
|
|
|
|
NM_001267550.2(TTN):c.62477C>G (p.Ser20826Ter)
|
|
|
|
NM_001267550.2(TTN):c.62493dup (p.Thr20832fs)
|
|
|
|
NM_001267550.2(TTN):c.62519dup (p.Gly20840_Lys20841insTer)
|
|
|
|
NM_001267550.2(TTN):c.62525_62526del (p.Tyr20842fs)
|
|
|
|
NM_001267550.2(TTN):c.62526T>G (p.Tyr20842Ter)
|
rs2049710031
|
|
|
NM_001267550.2(TTN):c.62530_62531del (p.Val20844fs)
|
|
|
|
NM_001267550.2(TTN):c.62533_62534insGTTGGAAGTTA (p.Thr20845fs)
|
|
|
|
NM_001267550.2(TTN):c.62597del (p.Gly20866fs)
|
rs1576066084
|
|
|
NM_001267550.2(TTN):c.62642_62648del (p.Cys20881fs)
|
|
|
|
NM_001267550.2(TTN):c.62655G>A (p.Trp20885Ter)
|
rs2049677875
|
|
|
NM_001267550.2(TTN):c.62708_62709insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAA (p.Lys20903_Cys20904insAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
|
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter)
|
rs543860009
|
|
|
NM_001267550.2(TTN):c.62742T>G (p.Tyr20914Ter)
|
|
|
|
NM_001267550.2(TTN):c.62810_62813dup (p.Arg20939fs)
|
|
|
|
NM_001267550.2(TTN):c.62854del (p.Ser20952fs)
|
rs2154183406
|
|
|
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs)
|
rs876657666
|
|
|
NM_001267550.2(TTN):c.62911G>T (p.Glu20971Ter)
|
|
|
|
NM_001267550.2(TTN):c.62922del (p.Lys20974_Val20975insTer)
|
rs2154183349
|
|
|
NM_001267550.2(TTN):c.62935G>T (p.Glu20979Ter)
|
rs1306891128
|
|
|
NM_001267550.2(TTN):c.62966del (p.Tyr20989fs)
|
|
|
|
NM_001267550.2(TTN):c.62978dup (p.Ser20994fs)
|
rs2154183322
|
|
|
NM_001267550.2(TTN):c.63025C>T (p.Arg21009Ter)
|
rs368452607
|
|
|
NM_001267550.2(TTN):c.63049_63050dup (p.Ile21018fs)
|
rs1559561666
|
|
|
NM_001267550.2(TTN):c.63081dup (p.Leu21028fs)
|
|
|
|
NM_001267550.2(TTN):c.63094del (p.His21032fs)
|
|
|
|
NM_001267550.2(TTN):c.63096del (p.His21032fs)
|
|
|
|
NM_001267550.2(TTN):c.63234del (p.Lys21078fs)
|
|
|
|
NM_001267550.2(TTN):c.63255G>A (p.Trp21085Ter)
|
rs1553638539
|
|
|
NM_001267550.2(TTN):c.63270T>G (p.Tyr21090Ter)
|
rs878991431
|
|
|
NM_001267550.2(TTN):c.63303_63304delinsTT (p.Glu21102Ter)
|
|
|
|
NM_001267550.2(TTN):c.63367dup (p.Ala21123fs)
|
rs2154182688
|
|
|
NM_001267550.2(TTN):c.63390_63393del (p.Phe21130fs)
|
|
|
|
NM_001267550.2(TTN):c.63413_63420dup (p.Tyr21141fs)
|
|
|
|
NM_001267550.2(TTN):c.63422_63423dup (p.Glu21142fs)
|
|
|
|
NM_001267550.2(TTN):c.63504del (p.Ile21168_Leu21169insTer)
|
rs2154182600
|
|
|
NM_001267550.2(TTN):c.63526_63527del (p.Leu21176fs)
|
rs2154182483
|
|
|
NM_001267550.2(TTN):c.63546dup (p.Leu21183fs)
|
|
|
|
NM_001267550.2(TTN):c.63577dup (p.Arg21193fs)
|
rs2154182439
|
|
|
NM_001267550.2(TTN):c.63578del (p.Arg21193fs)
|
rs2154182432
|
|
|
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter)
|
rs764243269
|
|
|
NM_001267550.2(TTN):c.63625C>T (p.Arg21209Ter)
|
rs794729279
|
|
|
NM_001267550.2(TTN):c.63675del (p.Asp21226fs)
|
rs2154182357
|
|
|
NM_001267550.2(TTN):c.63722delinsAA (p.Ser21241Ter)
|
rs2049307995
|
|
|
NM_001267550.2(TTN):c.63747del (p.Asn21250fs)
|
|
|
|
NM_001267550.2(TTN):c.63754del (p.Ala21252fs)
|
rs2154182312
|
|
|
NM_001267550.2(TTN):c.63793+1G>A
|
rs2154182296
|
|
|
NM_001267550.2(TTN):c.63794-1G>A
|
rs2049262622
|
|
|
NM_001267550.2(TTN):c.63801del (p.Pro21269fs)
|
rs1553636843
|
|
|
NM_001267550.2(TTN):c.63845C>G (p.Ser21282Ter)
|
|
|
|
NM_001267550.2(TTN):c.63851_63864del (p.His21284fs)
|
|
|
|
NM_001267550.2(TTN):c.63879del (p.Asp21293fs)
|
rs2154182119
|
|
|
NM_001267550.2(TTN):c.63982del (p.Thr21328fs)
|
|
|
|
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter)
|
rs1553636324
|
|
|
NM_001267550.2(TTN):c.64033G>T (p.Glu21345Ter)
|
|
|
|
NM_001267550.2(TTN):c.64082C>A (p.Ser21361Ter)
|
|
|
|
NM_001267550.2(TTN):c.64093+1G>A
|
|
|
|
NM_001267550.2(TTN):c.64094-1G>C
|
rs2154181635
|
|
|
NM_001267550.2(TTN):c.64094-2A>G
|
rs876657667
|
|
|
NM_001267550.2(TTN):c.64216A>T (p.Arg21406Ter)
|
rs2049052530
|
|
|
NM_001267550.2(TTN):c.64222G>T (p.Glu21408Ter)
|
rs1576015923
|
|
|
NM_001267550.2(TTN):c.64245G>A (p.Trp21415Ter)
|
|
|
|
NM_001267550.2(TTN):c.64249_64253dup (p.Tyr21418Ter)
|
rs794729329
|
|
|
NM_001267550.2(TTN):c.64287del (p.Gly21430fs)
|
rs2049038862
|
|
|
NM_001267550.2(TTN):c.64297del (p.Glu21433fs)
|
rs1576014780
|
|
|
NM_001267550.2(TTN):c.64314del (p.Lys21438fs)
|
rs2154181503
|
|
|
NM_001267550.2(TTN):c.64318A>T (p.Arg21440Ter)
|
rs1576014673
|
|
|
NM_001267550.2(TTN):c.64352T>A (p.Leu21451Ter)
|
rs777425925
|
|
|
NM_001267550.2(TTN):c.64396+2T>C
|
rs2154181458
|
|
|
NM_001267550.2(TTN):c.64423C>T (p.Gln21475Ter)
|
|
|
|
NM_001267550.2(TTN):c.64427_64428dup (p.Thr21477Ter)
|
rs1559536156
|
|
|
NM_001267550.2(TTN):c.64443dup (p.Lys21482fs)
|
|
|
|
NM_001267550.2(TTN):c.64506dup (p.Gly21503fs)
|
|
|
|
NM_001267550.2(TTN):c.64516G>T (p.Glu21506Ter)
|
|
|
|
NM_001267550.2(TTN):c.64518del (p.Val21507fs)
|
rs2154180376
|
|
|
NM_001267550.2(TTN):c.64577dup (p.Asp21528fs)
|
rs2048654277
|
|
|
NM_001267550.2(TTN):c.64583_64592dup (p.Arg21531_Lys21532insCysAspTer)
|
rs2154180338
|
|
|
NM_001267550.2(TTN):c.64594_64601del (p.Lys21532fs)
|
|
|
|
NM_001267550.2(TTN):c.64655_64659dup (p.Val21554fs)
|
|
|
|
NM_001267550.2(TTN):c.64672+1G>A
|
rs2048635392
|
|
|
NM_001267550.2(TTN):c.64672+2T>A
|
|
|
|
NM_001267550.2(TTN):c.64672+2T>C
|
rs2154180290
|
|
|
NM_001267550.2(TTN):c.64672+2dup
|
|
|
|
NM_001267550.2(TTN):c.64673-1G>A
|
rs2154180190
|
|
|
NM_001267550.2(TTN):c.64673-2A>G
|
rs2154180194
|
|
|
NM_001267550.2(TTN):c.64680dup (p.Gly21561fs)
|
rs794729330
|
|
|
NM_001267550.2(TTN):c.64688_64689insA (p.Gln21564fs)
|
rs2154180169
|
|
|
NM_001267550.2(TTN):c.64688del (p.Pro21563fs)
|
rs774395395
|
|
|
NM_001267550.2(TTN):c.64688dup (p.Gln21564fs)
|
rs774395395
|
|
|
NM_001267550.2(TTN):c.64708del (p.Ser21570fs)
|
rs2048590205
|
|
|
NM_001267550.2(TTN):c.64742G>A (p.Trp21581Ter)
|
rs1057523344
|
|
|
NM_001267550.2(TTN):c.64752_64756del (p.Leu21585fs)
|
|
|
|
NM_001267550.2(TTN):c.64810C>T (p.Arg21604Ter)
|
|
|
|
NM_001267550.2(TTN):c.64843dup (p.Thr21615fs)
|
rs2048567077
|
|
|
NM_001267550.2(TTN):c.64890C>A (p.Tyr21630Ter)
|
|
|
|
NM_001267550.2(TTN):c.64915C>T (p.Arg21639Ter)
|
rs1432889079
|
|
|
NM_001267550.2(TTN):c.64973-1G>C
|
rs2154179915
|
|
|
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter)
|
rs794729280
|
|
|
NM_001267550.2(TTN):c.65087_65100del (p.Ile21696fs)
|
|
|
|
NM_001267550.2(TTN):c.6514C>T (p.Gln2172Ter)
|
|
|
|
NM_001267550.2(TTN):c.65212_65213del (p.Asn21738fs)
|
|
|
|
NM_001267550.2(TTN):c.6532C>T (p.Gln2178Ter)
|
rs1193046655
|
|
|
NM_001267550.2(TTN):c.65437C>T (p.Gln21813Ter)
|
rs1575960580
|
|
|
NM_001267550.2(TTN):c.65505del (p.Ile21835fs)
|
rs1559521007
|
|
|
NM_001267550.2(TTN):c.65531del (p.Pro21844fs)
|
rs794729331
|
|
|
NM_001267550.2(TTN):c.65573dup (p.Asn21858fs)
|
|
|
|
NM_001267550.2(TTN):c.65575+1del
|
rs2154179114
|
|
|
NM_001267550.2(TTN):c.65595del (p.Ser21866fs)
|
|
|
|
NM_001267550.2(TTN):c.65657_65658del (p.Thr21886fs)
|
rs2048154655
|
|
|
NM_001267550.2(TTN):c.65661_65677del (p.Phe21888fs)
|
rs2048149402
|
|
|
NM_001267550.2(TTN):c.65755_65756del (p.Cys21919fs)
|
rs1553629143
|
|
|
NM_001267550.2(TTN):c.65758_65759del (p.Thr21920fs)
|
rs1553629105
|
|
|
NM_001267550.2(TTN):c.65792C>G (p.Ser21931Ter)
|
|
|
|
NM_001267550.2(TTN):c.65863+2T>A
|
|
|
|
NM_001267550.2(TTN):c.66008G>A (p.Trp22003Ter)
|
rs1229556495
|
|
|
NM_001267550.2(TTN):c.66039del (p.Ser22014fs)
|
rs1553628052
|
|
|
NM_001267550.2(TTN):c.66059_66060insAT (p.Ile22021fs)
|
rs2047981524
|
|
|
NM_001267550.2(TTN):c.66062_66063del (p.Ile22021fs)
|
|
|
|
NM_001267550.2(TTN):c.66079C>T (p.Gln22027Ter)
|
rs2047976018
|
|
|
NM_001267550.2(TTN):c.66160+1G>T
|
rs2047961752
|
|
|
NM_001267550.2(TTN):c.66161-1G>C
|
rs1553627403
|
|
|
NM_001267550.2(TTN):c.66239_66242dup (p.Asp22082fs)
|
rs2047913995
|
|
|
NM_001267550.2(TTN):c.66254C>A (p.Ser22085Ter)
|
|
|
|
NM_001267550.2(TTN):c.66306G>A (p.Trp22102Ter)
|
|
|
|
NM_001267550.2(TTN):c.66319del (p.Arg22107fs)
|
rs2047900528
|
|
|
NM_001267550.2(TTN):c.66361C>T (p.Gln22121Ter)
|
|
|
|
NM_001267550.2(TTN):c.66378dup (p.Glu22127Ter)
|
|
|
|
NM_001267550.2(TTN):c.66460C>T (p.Gln22154Ter)
|
|
|
|
NM_001267550.2(TTN):c.66464-2A>G
|
rs1575921187
|
|
|
NM_001267550.2(TTN):c.66492del (p.Val22165fs)
|
|
|
|
NM_001267550.2(TTN):c.66524dup (p.Ser22176fs)
|
|
|
|
NM_001267550.2(TTN):c.66576dup (p.Val22193fs)
|
rs2154177519
|
|
|
NM_001267550.2(TTN):c.66618C>A (p.Cys22206Ter)
|
rs397517664
|
|
|
NM_001267550.2(TTN):c.66628C>T (p.Gln22210Ter)
|
rs757047748
|
|
|
NM_001267550.2(TTN):c.66637C>T (p.Gln22213Ter)
|
|
|
|
NM_001267550.2(TTN):c.66682dup (p.Tyr22228fs)
|
rs2154177424
|
|
|
NM_001267550.2(TTN):c.66710del (p.Lys22237fs)
|
rs1060500479
|
|
|
NM_001267550.2(TTN):c.66770-2A>C
|
rs1553624468
|
|
|
NM_001267550.2(TTN):c.66776del (p.Pro22259fs)
|
|
|
|
NM_001267550.2(TTN):c.66793dup (p.Ala22265fs)
|
rs2047469522
|
|
|
NM_001267550.2(TTN):c.66800T>A (p.Leu22267Ter)
|
|
|
|
NM_001267550.2(TTN):c.66816_66817del (p.Leu22273fs)
|
rs2154176484
|
|
|
NM_001267550.2(TTN):c.66846T>G (p.Tyr22282Ter)
|
|
|
|
NM_001267550.2(TTN):c.66858dup (p.Gly22287fs)
|
|
|
|
NM_001267550.2(TTN):c.66885G>A (p.Trp22295Ter)
|
|
|
|
NM_001267550.2(TTN):c.66906_66907del (p.Asp22304fs)
|
|
|
|
NM_001267550.2(TTN):c.66910_66911del (p.Asp22304fs)
|
|
|
|
NM_001267550.2(TTN):c.66931_66932del (p.Lys22311fs)
|
rs2154176398
|
|
|
NM_001267550.2(TTN):c.66937del (p.Thr22313fs)
|
|
|
|
NM_001267550.2(TTN):c.66941_66944dup (p.Phe22315fs)
|
rs2047435382
|
|
|
NM_001267550.2(TTN):c.66968del (p.Asn22323fs)
|
rs2154176360
|
|
|
NM_001267550.2(TTN):c.66981T>G (p.Tyr22327Ter)
|
rs2047426908
|
|
|
NM_001267550.2(TTN):c.66985dup (p.Ala22329fs)
|
|
|
|
NM_001267550.2(TTN):c.67057+1G>A
|
|
|
|
NM_001267550.2(TTN):c.67058-1G>A
|
|
|
|
NM_001267550.2(TTN):c.67070_67071insTGTGACTGTATCCAGATAC (p.Pro22358fs)
|
rs2047381754
|
|
|
NM_001267550.2(TTN):c.67070del (p.Pro22357fs)
|
|
|
|
NM_001267550.2(TTN):c.67081dup (p.Val22361fs)
|
rs2047380262
|
|
|
NM_001267550.2(TTN):c.67109_67110del (p.Ser22370fs)
|
|
|
|
NM_001267550.2(TTN):c.67115_67116del (p.Tyr22372fs)
|
rs2154176111
|
|
|
NM_001267550.2(TTN):c.67166_67167del (p.Tyr22389fs)
|
rs1476017129
|
|
|
NM_001267550.2(TTN):c.67174C>T (p.Gln22392Ter)
|
rs2154176072
|
|
|
NM_001267550.2(TTN):c.67191del (p.Arg22398fs)
|
|
|
|
NM_001267550.2(TTN):c.67266dup (p.Ser22423fs)
|
rs2154175989
|
|
|
NM_001267550.2(TTN):c.67279del (p.Arg22427fs)
|
rs2154175979
|
|
|
NM_001267550.2(TTN):c.67297G>T (p.Glu22433Ter)
|
|
|
|
NM_001267550.2(TTN):c.67397C>A (p.Ser22466Ter)
|
rs2047280731
|
|
|
NM_001267550.2(TTN):c.67421del (p.Lys22474fs)
|
rs794729332
|
|
|
NM_001267550.2(TTN):c.67446del (p.Ile22483fs)
|
rs2154175760
|
|
|
NM_001267550.2(TTN):c.67490G>A (p.Trp22497Ter)
|
|
|
|
NM_001267550.2(TTN):c.67555del (p.Tyr22519fs)
|
rs2154175699
|
|
|
NM_001267550.2(TTN):c.67556_67559dup (p.Phe22521fs)
|
rs2154175692
|
|
|
NM_001267550.2(TTN):c.67576G>T (p.Glu22526Ter)
|
rs2047236705
|
|
|
NM_001267550.2(TTN):c.67590_67591insCTCCATGGGCTCTTCTCTTGCTTTGAAAACTCCCCCTTTTCCCCTCTCCCTCTCCCTCTCCCTCTCCCCCTACCCCTCCCCCTCCCCCTCTCCCTCTNNNNNNNNNNAAAAACAAAAAAAAAAAAAAGAATGAAAATGGA (p.Glu22531fs)
|
rs2154175675
|
|
|
NM_001267550.2(TTN):c.67613del (p.Thr22538fs)
|
|
|
|
NM_001267550.2(TTN):c.67655T>G (p.Leu22552Ter)
|
|
|
|
NM_001267550.2(TTN):c.67705_67706insLINE1
|
|
|
|
NM_001267550.2(TTN):c.67750del (p.Trp22584fs)
|
|
|
|
NM_001267550.2(TTN):c.67762del (p.Glu22588fs)
|
rs2154175340
|
|
|
NM_001267550.2(TTN):c.67794del (p.Ser22598fs)
|
|
|
|
NM_001267550.2(TTN):c.67833C>G (p.Tyr22611Ter)
|
|
|
|
NM_001267550.2(TTN):c.67840C>T (p.Gln22614Ter)
|
rs2154175288
|
|
|
NM_001267550.2(TTN):c.67897G>T (p.Glu22633Ter)
|
rs1553621179
|
|
|
NM_001267550.2(TTN):c.67900_67901del (p.Gly22634fs)
|
|
|
|
NM_001267550.2(TTN):c.67901_67904dup (p.Ile22636fs)
|
|
|
|
NM_001267550.2(TTN):c.67906_67909dup (p.Ser22637fs)
|
|
|
|
NM_001267550.2(TTN):c.67994G>A (p.Trp22665Ter)
|
|
|
|
NM_001267550.2(TTN):c.68022dup (p.Glu22675Ter)
|
|
|
|
NM_001267550.2(TTN):c.68087C>A (p.Ser22696Ter)
|
|
|
|
NM_001267550.2(TTN):c.68108_68109del (p.Thr22702_Phe22703insTer)
|
rs2154175051
|
|
|
NM_001267550.2(TTN):c.68169_68171dup (p.Tyr22724Ter)
|
|
|
|
NM_001267550.2(TTN):c.68197G>T (p.Glu22733Ter)
|
|
|
|
NM_001267550.2(TTN):c.68224+1G>A
|
rs754250350
|
|
|
NM_001267550.2(TTN):c.68225-1G>A
|
|
|
|
NM_001267550.2(TTN):c.68242_68243dup (p.Pro22749fs)
|
rs1085307600
|
|
|
NM_001267550.2(TTN):c.68262_68266del (p.Asp22754fs)
|
|
|
|
NM_001267550.2(TTN):c.68269del (p.His22757fs)
|
rs2154174822
|
|
|
NM_001267550.2(TTN):c.68308del (p.Thr22770fs)
|
rs1064796112
|
|
|
NM_001267550.2(TTN):c.68325dup (p.Thr22776fs)
|
rs1575853060
|
|
|
NM_001267550.2(TTN):c.68336_68340dup (p.Glu22781fs)
|
|
|
|
NM_001267550.2(TTN):c.68349_68356del (p.Glu22784fs)
|
rs2154174313
|
|
|
NM_001267550.2(TTN):c.68410_68411insTCGGTTA (p.Lys22804delinsIleGlyTer)
|
rs2154174273
|
|
|
NM_001267550.2(TTN):c.68427del (p.Glu22810fs)
|
|
|
|
NM_001267550.2(TTN):c.68437G>T (p.Glu22813Ter)
|
rs200797552
|
|
|
NM_001267550.2(TTN):c.6846T>A (p.Tyr2282Ter)
|
|
|
|
NM_001267550.2(TTN):c.68508dup (p.Val22837fs)
|
rs1064793845
|
|
|
NM_001267550.2(TTN):c.68575_68576dup (p.Ile22861fs)
|
|
|
|
NM_001267550.2(TTN):c.68606del (p.Gly22869fs)
|
|
|
|
NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter)
|
rs1213930919
|
|
|
NM_001267550.2(TTN):c.68654dup (p.Lys22886fs)
|
rs2154174012
|
|
|
NM_001267550.2(TTN):c.68663G>A (p.Trp22888Ter)
|
rs2154174003
|
|
|
NM_001267550.2(TTN):c.68664G>A (p.Trp22888Ter)
|
rs2046761831
|
|
|
NM_001267550.2(TTN):c.68759del (p.Asn22920fs)
|
|
|
|
NM_001267550.2(TTN):c.68768del (p.Gly22923fs)
|
|
|
|
NM_001267550.2(TTN):c.68800del (p.Thr22934fs)
|
|
|
|
NM_001267550.2(TTN):c.68807_68810dup (p.Lys22938fs)
|
rs2046739414
|
|
|
NM_001267550.2(TTN):c.68824+1del
|
|
|
|
NM_001267550.2(TTN):c.68854del (p.Thr22951_Ile22952insTer)
|
|
|
|
NM_001267550.2(TTN):c.68859_68862dup (p.Gly22955fs)
|
rs2154173774
|
|
|
NM_001267550.2(TTN):c.68875A>T (p.Lys22959Ter)
|
rs2154173767
|
|
|
NM_001267550.2(TTN):c.68876_68883del (p.Lys22959fs)
|
rs1575832346
|
|
|
NM_001267550.2(TTN):c.68934dup (p.Ser22979fs)
|
|
|
|
NM_001267550.2(TTN):c.68936C>A (p.Ser22979Ter)
|
rs2154173745
|
|
|
NM_001267550.2(TTN):c.68941del (p.Trp22981fs)
|
rs1575831755
|
|
|
NM_001267550.2(TTN):c.68943G>A (p.Trp22981Ter)
|
rs1553617378
|
|
|
NM_001267550.2(TTN):c.68992del (p.Ser22998fs)
|
|
|
|
NM_001267550.2(TTN):c.68995del (p.Thr22999fs)
|
rs1064796389
|
|
|
NM_001267550.2(TTN):c.69104dup (p.Thr23036fs)
|
rs1559469421
|
|
|
NM_001267550.2(TTN):c.69105_69108dup (p.Val23037fs)
|
|
|
|
NM_001267550.2(TTN):c.69131del (p.Pro23044fs)
|
rs2154173603
|
|
|
NM_001267550.2(TTN):c.69186_69187del (p.Pro23063fs)
|
|
|
|
NM_001267550.2(TTN):c.69214del (p.Ile23072fs)
|
|
|
|
NM_001267550.2(TTN):c.69234_69238del (p.Lys23079fs)
|
rs2046600751
|
|
|
NM_001267550.2(TTN):c.69241_69242del (p.Glu23081fs)
|
rs1575826940
|
|
|
NM_001267550.2(TTN):c.69250C>T (p.Arg23084Ter)
|
rs794729281
|
|
|
NM_001267550.2(TTN):c.69256_69257dup (p.Leu23086fs)
|
rs1553616622
|
|
|
NM_001267550.2(TTN):c.69257del (p.Leu23086fs)
|
|
|
|
NM_001267550.2(TTN):c.69292_69299dup (p.Ala23101fs)
|
|
|
|
NM_001267550.2(TTN):c.69325G>T (p.Glu23109Ter)
|
|
|
|
NM_001267550.2(TTN):c.69340del (p.Val23114fs)
|
rs2046581341
|
|
|
NM_001267550.2(TTN):c.69379C>T (p.Gln23127Ter)
|
|
|
|
NM_001267550.2(TTN):c.69387del (p.Glu23129fs)
|
rs2154173437
|
|
|
NM_001267550.2(TTN):c.69412+1G>A
|
rs869312074
|
|
|
NM_001267550.2(TTN):c.69421_69422insAAAAG (p.Gly23141fs)
|
rs1247353236
|
|
|
NM_001267550.2(TTN):c.69422_69426delinsAAAAGGACCC (p.Gly23141fs)
|
rs2046539116
|
|
|
NM_001267550.2(TTN):c.69479G>A (p.Trp23160Ter)
|
rs2154173285
|
|
|
NM_001267550.2(TTN):c.69491_69492del (p.Val23164fs)
|
rs869312113
|
|
|
NM_001267550.2(TTN):c.69497dup (p.Asp23166fs)
|
|
|
|
NM_001267550.2(TTN):c.69513del (p.Thr23172fs)
|
|
|
|
NM_001267550.2(TTN):c.69521_69525dup (p.Val23176fs)
|
rs2154173232
|
|
|
NM_001267550.2(TTN):c.69558G>A (p.Trp23186Ter)
|
rs1575821175
|
|
|
NM_001267550.2(TTN):c.69571_69592dup (p.Arg23198fs)
|
rs2046499843
|
|
|
NM_001267550.2(TTN):c.69584_69585insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAACACCAGTTTC (p.Ser23195_Asp23196insAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
|
NM_001267550.2(TTN):c.69613C>T (p.Gln23205Ter)
|
|
|
|
NM_001267550.2(TTN):c.69613_69616dup (p.Glu23206fs)
|
rs2154173163
|
|
|
NM_001267550.2(TTN):c.69759del (p.Lys23254fs)
|
|
|
|
NM_001267550.2(TTN):c.69811G>T (p.Glu23271Ter)
|
rs1213132001
|
|
|
NM_001267550.2(TTN):c.69860G>A (p.Trp23287Ter)
|
rs869067204
|
|
|
NM_001267550.2(TTN):c.69861G>A (p.Trp23287Ter)
|
|
|
|
NM_001267550.2(TTN):c.69866_69869dup (p.Asp23290fs)
|
rs2154172862
|
|
|
NM_001267550.2(TTN):c.69871del (p.Thr23291fs)
|
|
|
|
NM_001267550.2(TTN):c.6989_6998del (p.Lys2330fs)
|
|
|
|
NM_001267550.2(TTN):c.69923_69926dup (p.Lys23309delinsAsnTer)
|
rs2154172827
|
|
|
NM_001267550.2(TTN):c.69937_69938insGAAAAATACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTANNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAA (p.Asn23313delinsArgLysIleGlnAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
|
NM_001267550.2(TTN):c.69937_69938insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAAATACA (p.Tyr23312_Asn23313insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluLysTyr)
|
|
|
|
NM_001267550.2(TTN):c.69968del (p.Gly23323fs)
|
|
|
|
NM_001267550.2(TTN):c.69972del (p.Glu23326fs)
|
|
|
|
NM_001267550.2(TTN):c.69999del (p.Glu23334fs)
|
|
|
|
NM_001267550.2(TTN):c.70025del (p.Pro23342fs)
|
|
|
|
NM_001267550.2(TTN):c.70032dup (p.Glu23345Ter)
|
|
|
|
NM_001267550.2(TTN):c.70051C>T (p.Arg23351Ter)
|
rs1060500575
|
|
|
NM_001267550.2(TTN):c.70115del (p.Pro23372fs)
|
|
|
|
NM_001267550.2(TTN):c.70133G>A (p.Trp23378Ter)
|
|
|
|
NM_001267550.2(TTN):c.70210_70223delinsTTTACTCTTC (p.Glu23404fs)
|
rs1553614347
|
|
|
NM_001267550.2(TTN):c.70215dup (p.Asn23406Ter)
|
rs1553614378
|
|
|
NM_001267550.2(TTN):c.70222del (p.Tyr23408fs)
|
rs2154172616
|
|
|
NM_001267550.2(TTN):c.70224T>A (p.Tyr23408Ter)
|
rs908321623
|
|
|
NM_001267550.2(TTN):c.70270A>T (p.Lys23424Ter)
|
|
|
|
NM_001267550.2(TTN):c.70346del (p.Lys23449fs)
|
rs2154172536
|
|
|
NM_001267550.2(TTN):c.70379_70382dup (p.Gly23463fs)
|
rs2154172514
|
|
|
NM_001267550.2(TTN):c.70388del (p.Gly23463fs)
|
rs2154172507
|
|
|
NM_001267550.2(TTN):c.70401_70402dup (p.Thr23468fs)
|
|
|
|
NM_001267550.2(TTN):c.70437del (p.Lys23480fs)
|
rs2154172462
|
|
|
NM_001267550.2(TTN):c.70467C>A (p.Cys23489Ter)
|
rs2154172442
|
|
|
NM_001267550.2(TTN):c.70482_70483del (p.Tyr23494_Lys23495delinsTer)
|
|
|
|
NM_001267550.2(TTN):c.70491del (p.Gly23498fs)
|
rs2154172422
|
|
|
NM_001267550.2(TTN):c.70501G>T (p.Glu23501Ter)
|
rs1709809170
|
|
|
NM_001267550.2(TTN):c.70524_70525del (p.Arg23508fs)
|
|
|
|
NM_001267550.2(TTN):c.7057+2T>C
|
rs2154345049
|
|
|
NM_001267550.2(TTN):c.70571_70572dup (p.Glu23525fs)
|
rs1709775754
|
|
|
NM_001267550.2(TTN):c.70629_70632dup (p.Thr23545fs)
|
rs2154172318
|
|
|
NM_001267550.2(TTN):c.70701T>A (p.Tyr23567Ter)
|
|
|
|
NM_001267550.2(TTN):c.70714C>T (p.Gln23572Ter)
|
rs1559449398
|
|
|
NM_001267550.2(TTN):c.70745dup (p.Thr23583fs)
|
rs1559448864
|
|
|
NM_001267550.2(TTN):c.70785_70788dup (p.Glu23597delinsAsnTer)
|
rs2154172210
|
|
|
NM_001267550.2(TTN):c.70814_70815insTT (p.Val23605_Met23606insTer)
|
rs1709673176
|
|
|
NM_001267550.2(TTN):c.70879C>T (p.Gln23627Ter)
|
rs1575799625
|
|
|
NM_001267550.2(TTN):c.70897dup (p.Leu23633fs)
|
rs1709631095
|
|
|
NM_001267550.2(TTN):c.70917T>A (p.Tyr23639Ter)
|
|
|
|
NM_001267550.2(TTN):c.70918C>T (p.Gln23640Ter)
|
|
|
|
NM_001267550.2(TTN):c.70920_70923dup (p.Leu23642fs)
|
|
|
|
NM_001267550.2(TTN):c.70922_70923delinsG (p.Lys23641fs)
|
rs1709617800
|
|
|
NM_001267550.2(TTN):c.70936A>T (p.Lys23646Ter)
|
rs2154172066
|
|
|
NM_001267550.2(TTN):c.70957del (p.Val23653fs)
|
rs2154172050
|
|
|
NM_001267550.2(TTN):c.71002A>T (p.Lys23668Ter)
|
rs1553612321
|
|
|
NM_001267550.2(TTN):c.71024_71027del (p.Lys23675fs)
|
rs1709577304
|
|
|
NM_001267550.2(TTN):c.71035_71038del (p.Arg23679fs)
|
rs1575797171
|
|
|
NM_001267550.2(TTN):c.71045_71046del (p.Asn23681_Phe23682insTer)
|
rs2154171990
|
|
|
NM_001267550.2(TTN):c.71126_71127delinsA (p.Arg23709fs)
|
rs1709548356
|
|
|
NM_001267550.2(TTN):c.71146_71156del (p.Gly23716fs)
|
rs2154171911
|
|
|
NM_001267550.2(TTN):c.71201_71204del (p.Ile23734fs)
|
rs2154171881
|
|
|
NM_001267550.2(TTN):c.71237del (p.Phe23746fs)
|
|
|
|
NM_001267550.2(TTN):c.71242del (p.Trp23748fs)
|
rs1060500514
|
|
|
NM_001267550.2(TTN):c.71244G>A (p.Trp23748Ter)
|
|
|
|
NM_001267550.2(TTN):c.71321G>A (p.Trp23774Ter)
|
rs727503567
|
|
|
NM_001267550.2(TTN):c.71351_71352insGGTA (p.Thr23785fs)
|
rs2154171770
|
|
|
NM_001267550.2(TTN):c.71356dup (p.Tyr23786fs)
|
rs2154171765
|
|
|
NM_001267550.2(TTN):c.71365dup (p.Thr23789fs)
|
|
|
|
NM_001267550.2(TTN):c.71378_71385del (p.Thr23793fs)
|
rs1709461632
|
|
|
NM_001267550.2(TTN):c.71407del (p.Ala23803fs)
|
|
|
|
NM_001267550.2(TTN):c.71476del (p.Val23826fs)
|
|
|
|
NM_001267550.2(TTN):c.71525C>G (p.Ser23842Ter)
|
|
|
|
NM_001267550.2(TTN):c.71542_71564dup (p.Ser23856fs)
|
rs2154171645
|
|
|
NM_001267550.2(TTN):c.71550del (p.Leu23851fs)
|
|
|
|
NM_001267550.2(TTN):c.71563G>T (p.Gly23855Ter)
|
rs794729381
|
|
|
NM_001267550.2(TTN):c.71619G>A (p.Trp23873Ter)
|
|
|
|
NM_001267550.2(TTN):c.71634del (p.Ala23879fs)
|
rs727503565
|
|
|
NM_001267550.2(TTN):c.71685_71686insAAATA (p.Ala23896delinsLysTer)
|
rs1709360511
|
|
|
NM_001267550.2(TTN):c.71690_71691dup (p.Glu23898fs)
|
rs2154171550
|
|
|
NM_001267550.2(TTN):c.71706del (p.Ile23902fs)
|
rs2154171534
|
|
|
NM_001267550.2(TTN):c.71835G>A (p.Trp23945Ter)
|
rs1217858818
|
|
|
NM_001267550.2(TTN):c.71848_71855dup (p.Gly23953fs)
|
rs1254650118
|
|
|
NM_001267550.2(TTN):c.71869del (p.Thr23957fs)
|
|
|
|
NM_001267550.2(TTN):c.71912G>A (p.Trp23971Ter)
|
|
|
|
NM_001267550.2(TTN):c.71990del (p.Phe23997fs)
|
|
|
|
NM_001267550.2(TTN):c.72025_72035del (p.Ile24008_Ser24009insTer)
|
|
|
|
NM_001267550.2(TTN):c.72088A>T (p.Lys24030Ter)
|
rs1709195189
|
|
|
NM_001267550.2(TTN):c.72130_72133del (p.Gly24044fs)
|
rs2154171220
|
|
|
NM_001267550.2(TTN):c.72226_72229dup (p.Glu24077fs)
|
|
|
|
NM_001267550.2(TTN):c.72339_72340del (p.Ile24114fs)
|
rs1559429489
|
|
|
NM_001267550.2(TTN):c.72356_72371dup (p.Gly24124_Pro24125insSerTer)
|
|
|
|
NM_001267550.2(TTN):c.72397del (p.Thr24133fs)
|
rs2154171047
|
|
|
NM_001267550.2(TTN):c.72410C>A (p.Ser24137Ter)
|
|
|
|
NM_001267550.2(TTN):c.72433_72434insGA (p.Phe24145Ter)
|
rs1709055431
|
|
|
NM_001267550.2(TTN):c.72441_72442del (p.Leu24148fs)
|
|
|
|
NM_001267550.2(TTN):c.72463del (p.Ile24155fs)
|
|
|
|
NM_001267550.2(TTN):c.72509G>A (p.Trp24170Ter)
|
rs2154170981
|
|
|
NM_001267550.2(TTN):c.72542dup (p.Leu24182fs)
|
rs1709014153
|
|
|
NM_001267550.2(TTN):c.72574G>T (p.Glu24192Ter)
|
rs2154170941
|
|
|
NM_001267550.2(TTN):c.72612_72616del (p.Val24205fs)
|
rs2154170904
|
|
|
NM_001267550.2(TTN):c.72613del (p.Val24205fs)
|
rs1708996209
|
|
|
NM_001267550.2(TTN):c.72630dup (p.Ser24211fs)
|
|
|
|
NM_001267550.2(TTN):c.72661G>T (p.Gly24221Ter)
|
|
|
|
NM_001267550.2(TTN):c.72668dup (p.Pro24223_Asp24224insTer)
|
|
|
|
NM_001267550.2(TTN):c.72688G>T (p.Glu24230Ter)
|
rs2154170836
|
|
|
NM_001267550.2(TTN):c.72730G>T (p.Gly24244Ter)
|
rs1708937897
|
|
|
NM_001267550.2(TTN):c.72756del (p.Ser24252fs)
|
|
|
|
NM_001267550.2(TTN):c.72767dup (p.Asn24256fs)
|
|
|
|
NM_001267550.2(TTN):c.72771dup (p.Ile24258fs)
|
|
|
|
NM_001267550.2(TTN):c.72816C>A (p.Cys24272Ter)
|
|
|
|
NM_001267550.2(TTN):c.72826del (p.Thr24276fs)
|
rs971618751
|
|
|
NM_001267550.2(TTN):c.72826dup (p.Thr24276fs)
|
rs971618751
|
|
|
NM_001267550.2(TTN):c.72828_72831dup (p.Thr24278fs)
|
rs751319893
|
|
|
NM_001267550.2(TTN):c.72839T>G (p.Leu24280Ter)
|
|
|
|
NM_001267550.2(TTN):c.72867del (p.Gly24290fs)
|
rs2154170719
|
|
|
NM_001267550.2(TTN):c.72873del (p.His24291fs)
|
rs1575772360
|
|
|
NM_001267550.2(TTN):c.72935_72939del (p.Ser24312fs)
|
rs2154170669
|
|
|
NM_001267550.2(TTN):c.72945C>G (p.Tyr24315Ter)
|
rs879087983
|
|
|
NM_001267550.2(TTN):c.72956_72963del (p.Asp24319fs)
|
rs1064793876
|
|
|
NM_001267550.2(TTN):c.72963_72964del (p.Val24321_Phe24322insTer)
|
rs1708864326
|
|
|
NM_001267550.2(TTN):c.73044_73047dup (p.Asp24350delinsLeuTer)
|
|
|
|
NM_001267550.2(TTN):c.73046_73047del (p.Ile24348_Tyr24349insTer)
|
rs1708834541
|
|
|
NM_001267550.2(TTN):c.73047T>G (p.Tyr24349Ter)
|
rs2154170589
|
|
|
NM_001267550.2(TTN):c.73075_73076dup (p.Met24359fs)
|
rs1575769723
|
|
|
NM_001267550.2(TTN):c.73105_73115del (p.Glu24369fs)
|
rs2154170535
|
|
|
NM_001267550.2(TTN):c.73109G>A (p.Trp24370Ter)
|
rs869312115
|
|
|
NM_001267550.2(TTN):c.73110G>A (p.Trp24370Ter)
|
|
|
|
NM_001267550.2(TTN):c.73148C>A (p.Ser24383Ter)
|
|
|
|
NM_001267550.2(TTN):c.73156_73159dup (p.Thr24387fs)
|
rs2154170500
|
|
|
NM_001267550.2(TTN):c.73175_73178dup (p.Glu24394fs)
|
rs2154170480
|
|
|
NM_001267550.2(TTN):c.73200T>A (p.Tyr24400Ter)
|
|
|
|
NM_001267550.2(TTN):c.73200del (p.Ile24399_Tyr24400insTer)
|
|
|
|
NM_001267550.2(TTN):c.73218_73222dup (p.Gly24408fs)
|
|
|
|
NM_001267550.2(TTN):c.73244del (p.Gly24415fs)
|
rs1708759700
|
|
|
NM_001267550.2(TTN):c.73285G>T (p.Glu24429Ter)
|
rs373773552
|
|
|
NM_001267550.2(TTN):c.73324_73328delinsC (p.Ala24442fs)
|
rs1553607562
|
|
|
NM_001267550.2(TTN):c.7332dup (p.Val2445fs)
|
|
|
|
NM_001267550.2(TTN):c.73346_73347del (p.Phe24449fs)
|
rs2154170352
|
|
|
NM_001267550.2(TTN):c.73347del (p.Phe24449fs)
|
rs2154170352
|
|
|
NM_001267550.2(TTN):c.73348del (p.Val24450fs)
|
|
|
|
NM_001267550.2(TTN):c.73387del (p.Ala24463fs)
|
rs1553607425
|
|
|
NM_001267550.2(TTN):c.73411_73414del (p.Asp24471fs)
|
rs1708673550
|
|
|
NM_001267550.2(TTN):c.73426G>T (p.Glu24476Ter)
|
rs760487688
|
|
|
NM_001267550.2(TTN):c.73508del (p.Asn24503fs)
|
rs886038839
|
|
|
NM_001267550.2(TTN):c.73522A>T (p.Lys24508Ter)
|
|
|
|
NM_001267550.2(TTN):c.73543dup (p.Arg24515fs)
|
rs2154170227
|
|
|
NM_001267550.2(TTN):c.73557_73558dup (p.Pro24520fs)
|
rs1559415816
|
|
|
NM_001267550.2(TTN):c.73568del (p.Pro24523fs)
|
rs1559415567
|
|
|
NM_001267550.2(TTN):c.73568dup (p.Gln24524fs)
|
|
|
|
NM_001267550.2(TTN):c.73581_73585del (p.Val24528fs)
|
rs1708609129
|
|
|
NM_001267550.2(TTN):c.73619G>A (p.Trp24540Ter)
|
|
|
|
NM_001267550.2(TTN):c.73620G>A (p.Trp24540Ter)
|
rs2154170160
|
|
|
NM_001267550.2(TTN):c.73646C>G (p.Ser24549Ter)
|
|
|
|
NM_001267550.2(TTN):c.73687A>T (p.Arg24563Ter)
|
|
|
|
NM_001267550.2(TTN):c.73734G>A (p.Trp24578Ter)
|
rs753105114
|
|
|
NM_001267550.2(TTN):c.73735_73738del (p.Trp24578_Lys24579insTer)
|
|
|
|
NM_001267550.2(TTN):c.73750C>T (p.Gln24584Ter)
|
|
|
|
NM_001267550.2(TTN):c.73792G>T (p.Glu24598Ter)
|
rs1708526179
|
|
|
NM_001267550.2(TTN):c.73828_73835del (p.Val24611fs)
|
rs1708504899
|
|
|
NM_001267550.2(TTN):c.73845del (p.Glu24615fs)
|
rs397517696
|
|
|
NM_001267550.2(TTN):c.73911G>A (p.Trp24637Ter)
|
rs1708468046
|
|
|
NM_001267550.2(TTN):c.73939C>T (p.Arg24647Ter)
|
rs2154169928
|
|
|
NM_001267550.2(TTN):c.73974_73978del (p.Lys24658_Gly24659insTer)
|
rs2154169901
|
|
|
NM_001267550.2(TTN):c.73975_74029del (p.Gly24659fs)
|
|
|
|
NM_001267550.2(TTN):c.73998T>A (p.Cys24666Ter)
|
|
|
|
NM_001267550.2(TTN):c.74015del (p.Thr24672fs)
|
|
|
|
NM_001267550.2(TTN):c.74033_74036del (p.Gly24678fs)
|
rs2154169838
|
|
|
NM_001267550.2(TTN):c.74041C>T (p.Gln24681Ter)
|
rs1575756767
|
|
|
NM_001267550.2(TTN):c.74074C>T (p.Gln24692Ter)
|
|
|
|
NM_001267550.2(TTN):c.74099_74124del (p.Pro24700fs)
|
rs1708368133
|
|
|
NM_001267550.2(TTN):c.74202dup (p.Val24735fs)
|
rs2154169694
|
|
|
NM_001267550.2(TTN):c.74258del (p.Asn24753fs)
|
rs2154169665
|
|
|
NM_001267550.2(TTN):c.7433G>A (p.Trp2478Ter)
|
rs1561254509
|
|
|
NM_001267550.2(TTN):c.74358del (p.His24785_Tyr24786insTer)
|
rs1708277443
|
|
|
NM_001267550.2(TTN):c.74367del (p.Lys24789fs)
|
rs2154169575
|
|
|
NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer)
|
rs1064796390
|
|
|
NM_001267550.2(TTN):c.74374_74377dup (p.Ser24793Ter)
|
|
|
|
NM_001267550.2(TTN):c.74452dup (p.Met24818fs)
|
rs2154169509
|
|
|
NM_001267550.2(TTN):c.74490G>A (p.Trp24830Ter)
|
rs1708235406
|
|
|
NM_001267550.2(TTN):c.74532del (p.Asn24843_Tyr24844insTer)
|
rs2154169439
|
|
|
NM_001267550.2(TTN):c.74536del (p.Val24846fs)
|
rs1553605154
|
|
|
NM_001267550.2(TTN):c.74569C>T (p.Gln24857Ter)
|
|
|
|
NM_001267550.2(TTN):c.74585del (p.Thr24862fs)
|
|
|
|
NM_001267550.2(TTN):c.74608del (p.Ala24870fs)
|
rs878854332
|
|
|
NM_001267550.2(TTN):c.74638C>T (p.Gln24880Ter)
|
rs1553604869
|
|
|
NM_001267550.2(TTN):c.74677_74678dup (p.Tyr24894fs)
|
rs2154169318
|
|
|
NM_001267550.2(TTN):c.74716_74719del (p.Phe24906fs)
|
rs2154169290
|
|
|
NM_001267550.2(TTN):c.74767dup (p.Asp24923fs)
|
rs1343078144
|
|
|
NM_001267550.2(TTN):c.74848del (p.Arg24950fs)
|
rs2154169198
|
|
|
NM_001267550.2(TTN):c.74852del (p.Asn24951fs)
|
|
|
|
NM_001267550.2(TTN):c.74987_74991dup (p.Ser24998fs)
|
rs1553604316
|
|
|
NM_001267550.2(TTN):c.7498C>T (p.Gln2500Ter)
|
rs1561253718
|
|
|
NM_001267550.2(TTN):c.74995_74996del (p.Glu24999fs)
|
rs1708041287
|
|
|
NM_001267550.2(TTN):c.75080G>A (p.Trp25027Ter)
|
|
|
|
NM_001267550.2(TTN):c.75106_75110del (p.Ser25036fs)
|
rs2154169014
|
|
|
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs)
|
rs794729340
|
|
|
NM_001267550.2(TTN):c.75139G>T (p.Glu25047Ter)
|
|
|
|
NM_001267550.2(TTN):c.75148G>T (p.Glu25050Ter)
|
rs770754919
|
|
|
NM_001267550.2(TTN):c.75231T>A (p.Tyr25077Ter)
|
rs750699540
|
|
|
NM_001267550.2(TTN):c.75250C>T (p.Arg25084Ter)
|
rs794729286
|
|
|
NM_001267550.2(TTN):c.75268_75274del (p.Phe25090fs)
|
rs2154168865
|
|
|
NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter)
|
rs794729382
|
|
|
NM_001267550.2(TTN):c.75333_75334dup (p.Ser25112fs)
|
rs2154168819
|
|
|
NM_001267550.2(TTN):c.75354del (p.Asp25119fs)
|
rs1559394355
|
|
|
NM_001267550.2(TTN):c.75386dup (p.Lys25130fs)
|
rs1707893646
|
|
|
NM_001267550.2(TTN):c.75448C>T (p.Gln25150Ter)
|
|
|
|
NM_001267550.2(TTN):c.75458_75459dup (p.Asn25154fs)
|
|
|
|
NM_001267550.2(TTN):c.75482dup (p.Ser25162fs)
|
|
|
|
NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter)
|
rs1553603152
|
|
|
NM_001267550.2(TTN):c.75589del (p.Thr25196_Val25197insTer)
|
|
|
|
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs)
|
rs1553603036
|
|
|
NM_001267550.2(TTN):c.75663del (p.Lys25221fs)
|
rs1131691542
|
|
|
NM_001267550.2(TTN):c.75663dup (p.Cys25222fs)
|
|
|
|
NM_001267550.2(TTN):c.75741del (p.Ser25248fs)
|
|
|
|
NM_001267550.2(TTN):c.75820_75823del (p.Glu25274fs)
|
|
|
|
NM_001267550.2(TTN):c.75865G>T (p.Glu25289Ter)
|
|
|
|
NM_001267550.2(TTN):c.75895A>T (p.Lys25299Ter)
|
|
|
|
NM_001267550.2(TTN):c.75898_75901dup (p.Pro25301fs)
|
|
|
|
NM_001267550.2(TTN):c.75900del (p.Pro25301fs)
|
|
|
|
NM_001267550.2(TTN):c.75974G>A (p.Trp25325Ter)
|
rs1553602546
|
|
|
NM_001267550.2(TTN):c.75984_75985insTACCA (p.Ala25329fs)
|
rs1707618662
|
|
|
NM_001267550.2(TTN):c.76115dup (p.Asn25372fs)
|
rs774604740
|
|
|
NM_001267550.2(TTN):c.76134_76135del (p.Arg25378fs)
|
rs2154168209
|
|
|
NM_001267550.2(TTN):c.76155_76158dup (p.Leu25387fs)
|
|
|
|
NM_001267550.2(TTN):c.76210del (p.Tyr25404fs)
|
|
|
|
NM_001267550.2(TTN):c.76226del (p.Pro25409fs)
|
rs2154168142
|
|
|
NM_001267550.2(TTN):c.76240dup (p.Val25414fs)
|
rs1707514832
|
|
|
NM_001267550.2(TTN):c.76262C>A (p.Ser25421Ter)
|
rs1707503235
|
|
|
NM_001267550.2(TTN):c.76278G>A (p.Trp25426Ter)
|
rs1064794060
|
|
|
NM_001267550.2(TTN):c.76332dup (p.Cys25445fs)
|
rs1707471794
|
|
|
NM_001267550.2(TTN):c.76342_76345del (p.Ser25448fs)
|
|
|
|
NM_001267550.2(TTN):c.76342_76345dup (p.Val25449fs)
|
rs2154168044
|
|
|
NM_001267550.2(TTN):c.76355G>A (p.Trp25452Ter)
|
|
|
|
NM_001267550.2(TTN):c.76356G>A (p.Trp25452Ter)
|
rs2154168035
|
|
|
NM_001267550.2(TTN):c.76393_76396del (p.Thr25464_Asn25465insTer)
|
rs727504483
|
|
|
NM_001267550.2(TTN):c.76446_76447del (p.Ala25483fs)
|
rs1707425522
|
|
|
NM_001267550.2(TTN):c.76507del (p.Glu25503fs)
|
rs2154167928
|
|
|
NM_001267550.2(TTN):c.76513_76514dup (p.Leu25505fs)
|
|
|
|
NM_001267550.2(TTN):c.76540del (p.Asp25513_Leu25514insTer)
|
rs1559382080
|
|
|
NM_001267550.2(TTN):c.76721dup (p.Tyr25574Ter)
|
|
|
|
NM_001267550.2(TTN):c.76722T>A (p.Tyr25574Ter)
|
rs55696153
|
|
|
NM_001267550.2(TTN):c.76724_76727dup (p.Ser25576delinsArgTer)
|
rs2154167762
|
|
|
NM_001267550.2(TTN):c.76737T>A (p.Tyr25579Ter)
|
rs1707280155
|
|
|
NM_001267550.2(TTN):c.76743dup (p.Thr25582fs)
|
rs2154167743
|
|
|
NM_001267550.2(TTN):c.76748del (p.Thr25582_Leu25583insTer)
|
|
|
|
NM_001267550.2(TTN):c.76807dup (p.Ser25603fs)
|
rs2154167705
|
|
|
NM_001267550.2(TTN):c.76846_76847del (p.Asp25616fs)
|
rs1559378965
|
|
|
NM_001267550.2(TTN):c.76865G>A (p.Trp25622Ter)
|
rs756552975
|
|
|
NM_001267550.2(TTN):c.76945del (p.Ala25649fs)
|
rs1707205123
|
|
|
NM_001267550.2(TTN):c.76970del (p.Lys25657fs)
|
|
|
|
NM_001267550.2(TTN):c.76970dup (p.Asn25658fs)
|
|
|
|
NM_001267550.2(TTN):c.76990C>T (p.Gln25664Ter)
|
|
|
|
NM_001267550.2(TTN):c.77013T>A (p.Tyr25671Ter)
|
|
|
|
NM_001267550.2(TTN):c.77014dup (p.Tyr25672fs)
|
rs2154167532
|
|
|
NM_001267550.2(TTN):c.77026del (p.Thr25676fs)
|
rs2154167529
|
|
|
NM_001267550.2(TTN):c.77046dup (p.Ile25683fs)
|
|
|
|
NM_001267550.2(TTN):c.77100dup (p.Pro25701fs)
|
rs794729343
|
|
|
NM_001267550.2(TTN):c.77147_77150del (p.Val25715_Ser25716insTer)
|
rs1466647934
|
|
|
NM_001267550.2(TTN):c.77157G>A (p.Trp25719Ter)
|
rs1707088255
|
|
|
NM_001267550.2(TTN):c.77177del (p.Gly25726fs)
|
rs794729344
|
|
|
NM_001267550.2(TTN):c.77227G>T (p.Glu25743Ter)
|
rs765997807
|
|
|
NM_001267550.2(TTN):c.77248C>T (p.Arg25750Ter)
|
rs1575714442
|
|
|
NM_001267550.2(TTN):c.77263C>T (p.Gln25755Ter)
|
rs2154167332
|
|
|
NM_001267550.2(TTN):c.77299dup (p.Tyr25767fs)
|
|
|
|
NM_001267550.2(TTN):c.77326G>T (p.Glu25776Ter)
|
rs1553600058
|
|
|
NM_001267550.2(TTN):c.77404_77405insA (p.Pro25802fs)
|
|
|
|
NM_001267550.2(TTN):c.77437C>T (p.Gln25813Ter)
|
rs794729287
|
|
|
NM_001267550.2(TTN):c.77452del (p.Glu25818fs)
|
|
|
|
NM_001267550.2(TTN):c.77510del (p.Pro25837fs)
|
|
|
|
NM_001267550.2(TTN):c.77546C>G (p.Ser25849Ter)
|
|
|
|
NM_001267550.2(TTN):c.77604T>G (p.Tyr25868Ter)
|
rs752137856
|
|
|
NM_001267550.2(TTN):c.77605G>T (p.Gly25869Ter)
|
|
|
|
NM_001267550.2(TTN):c.77610del (p.Thr25871fs)
|
rs1706840484
|
|
|
NM_001267550.2(TTN):c.77751T>A (p.Tyr25917Ter)
|
|
|
|
NM_001267550.2(TTN):c.77785C>T (p.Gln25929Ter)
|
|
|
|
NM_001267550.2(TTN):c.77843del (p.Thr25948fs)
|
|
|
|
NM_001267550.2(TTN):c.77853del (p.Lys25951_Val25952insTer)
|
|
|
|
NM_001267550.2(TTN):c.77884del (p.Gln25962fs)
|
|
|
|
NM_001267550.2(TTN):c.77902G>T (p.Glu25968Ter)
|
|
|
|
NM_001267550.2(TTN):c.77906dup (p.Asn25969fs)
|
rs1559368995
|
|
|
NM_001267550.2(TTN):c.77907_77908del (p.Asn25969fs)
|
rs2154166826
|
|
|
NM_001267550.2(TTN):c.77933_77951del (p.Glu25978fs)
|
rs1553597801
|
|
|
NM_001267550.2(TTN):c.78075C>A (p.Tyr26025Ter)
|
rs1553597198
|
|
|
NM_001267550.2(TTN):c.78097_78098del (p.Asn26033fs)
|
|
|
|
NM_001267550.2(TTN):c.78110G>A (p.Trp26037Ter)
|
|
|
|
NM_001267550.2(TTN):c.78153del (p.Ala26052fs)
|
rs2154166670
|
|
|
NM_001267550.2(TTN):c.78184G>T (p.Glu26062Ter)
|
rs869312057
|
|
|
NM_001267550.2(TTN):c.78192_78193del (p.Arg26064fs)
|
|
|
|
NM_001267550.2(TTN):c.78197dup (p.Tyr26066Ter)
|
rs1553596594
|
|
|
NM_001267550.2(TTN):c.78231_78234del (p.Ser26077fs)
|
|
|
|
NM_001267550.2(TTN):c.78249T>G (p.Tyr26083Ter)
|
rs747203787
|
|
|
NM_001267550.2(TTN):c.78278_78279del (p.Gly26093fs)
|
|
|
|
NM_001267550.2(TTN):c.78326G>A (p.Trp26109Ter)
|
rs1559364892
|
|
|
NM_001267550.2(TTN):c.78342T>G (p.Tyr26114Ter)
|
rs2154166540
|
|
|
NM_001267550.2(TTN):c.78348dup (p.Gly26117fs)
|
|
|
|
NM_001267550.2(TTN):c.78369_78376dup (p.Glu26126delinsAlaLeuTer)
|
|
|
|
NM_001267550.2(TTN):c.78404G>A (p.Trp26135Ter)
|
rs1064793668
|
|
|
NM_001267550.2(TTN):c.78634A>T (p.Arg26212Ter)
|
rs1559362000
|
|
|
NM_001267550.2(TTN):c.78656del (p.Gly26219fs)
|
rs1706331057
|
|
|
NM_001267550.2(TTN):c.78689del (p.Gly26230fs)
|
rs2154166282
|
|
|
NM_001267550.2(TTN):c.78697G>T (p.Glu26233Ter)
|
rs267599036
|
|
|
NM_001267550.2(TTN):c.78749del (p.Leu26250fs)
|
rs1064793285
|
|
|
NM_001267550.2(TTN):c.78861_78864del (p.Gly26288fs)
|
|
|
|
NM_001267550.2(TTN):c.78924G>A (p.Trp26308Ter)
|
|
|
|
NM_001267550.2(TTN):c.79006dup (p.Val26336fs)
|
|
|
|
NM_001267550.2(TTN):c.79016C>A (p.Ser26339Ter)
|
|
|
|
NM_001267550.2(TTN):c.79041del (p.Val26348fs)
|
rs1706189208
|
|
|
NM_001267550.2(TTN):c.79137_79138dup (p.Met26380fs)
|
rs2154165980
|
|
|
NM_001267550.2(TTN):c.79141A>T (p.Lys26381Ter)
|
rs1131691944
|
|
|
NM_001267550.2(TTN):c.79175del (p.Ser26392fs)
|
rs1706104379
|
|
|
NM_001267550.2(TTN):c.79185_79186insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGCTTGGAAGTC (p.Val26395_Thr26396insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyXaaXaaXaaXaaLysLysLysLysLysLysLysLysSerLeuGluVal)
|
|
|
|
NM_001267550.2(TTN):c.79199_79200del (p.Lys26400fs)
|
rs2154165935
|
|
|
NM_001267550.2(TTN):c.79273A>T (p.Lys26425Ter)
|
rs1706063163
|
|
|
NM_001267550.2(TTN):c.79278del (p.Asp26427fs)
|
rs1064796574
|
|
|
NM_001267550.2(TTN):c.79298G>A (p.Trp26433Ter)
|
rs1559355268
|
|
|
NM_001267550.2(TTN):c.79305del (p.Lys26435fs)
|
rs2154165874
|
|
|
NM_001267550.2(TTN):c.79368_79369del (p.Glu26456_Tyr26457insTer)
|
|
|
|
NM_001267550.2(TTN):c.79371T>A (p.Tyr26457Ter)
|
rs1706021639
|
|
|
NM_001267550.2(TTN):c.79427_79428dup (p.Val26477fs)
|
|
|
|
NM_001267550.2(TTN):c.79523G>A (p.Trp26508Ter)
|
|
|
|
NM_001267550.2(TTN):c.79539T>A (p.Tyr26513Ter)
|
rs1575685597
|
|
|
NM_001267550.2(TTN):c.79599_79621del (p.Glu26533fs)
|
rs1312613088
|
|
|
NM_001267550.2(TTN):c.79602G>A (p.Trp26534Ter)
|
|
|
|
NM_001267550.2(TTN):c.79603C>T (p.Gln26535Ter)
|
rs1064793911
|
|
|
NM_001267550.2(TTN):c.79639C>T (p.Arg26547Ter)
|
|
|
|
NM_001267550.2(TTN):c.79687dup (p.Val26563fs)
|
|
|
|
NM_001267550.2(TTN):c.79717G>T (p.Glu26573Ter)
|
rs1705879851
|
|
|
NM_001267550.2(TTN):c.79793T>G (p.Leu26598Ter)
|
rs1064794023
|
|
|
NM_001267550.2(TTN):c.79797_79822dup (p.Gly26608delinsGluLysGluLeuLeuTer)
|
rs2154165475
|
|
|
NM_001267550.2(TTN):c.79801G>T (p.Gly26601Ter)
|
rs773632027
|
|
|
NM_001267550.2(TTN):c.79806_79809del (p.Ile26602fs)
|
rs794729347
|
|
|
NM_001267550.2(TTN):c.79844_79848del (p.Pro26615fs)
|
|
|
|
NM_001267550.2(TTN):c.79878G>A (p.Trp26626Ter)
|
rs1705798888
|
|
|
NM_001267550.2(TTN):c.79912C>T (p.Gln26638Ter)
|
rs1705781269
|
|
|
NM_001267550.2(TTN):c.79917del (p.Ile26639fs)
|
rs1705777731
|
|
|
NM_001267550.2(TTN):c.79924G>T (p.Gly26642Ter)
|
|
|
|
NM_001267550.2(TTN):c.80000del (p.Asn26667fs)
|
|
|
|
NM_001267550.2(TTN):c.80044_80047dup (p.Thr26683fs)
|
rs1553586069
|
|
|
NM_001267550.2(TTN):c.80082_80086del (p.Val26695fs)
|
rs2154165293
|
|
|
NM_001267550.2(TTN):c.80125_80126dup (p.Asp26710fs)
|
rs1705700724
|
|
|
NM_001267550.2(TTN):c.80169dup (p.Glu26724Ter)
|
rs1705682545
|
|
|
NM_001267550.2(TTN):c.80174_80202dup (p.Ser26735delinsGlnProGluLysArgMetLeuMetTer)
|
rs2154165199
|
|
|
NM_001267550.2(TTN):c.8017A>T (p.Lys2673Ter)
|
|
|
|
NM_001267550.2(TTN):c.80218del (p.Thr26740fs)
|
|
|
|
NM_001267550.2(TTN):c.80259T>G (p.Tyr26753Ter)
|
rs895018646
|
|
|
NM_001267550.2(TTN):c.80268_80269del (p.Arg26756fs)
|
rs2154165154
|
|
|
NM_001267550.2(TTN):c.80361del (p.Thr26788fs)
|
|
|
|
NM_001267550.2(TTN):c.80380C>T (p.Gln26794Ter)
|
rs2154165062
|
|
|
NM_001267550.2(TTN):c.80386del (p.Ser26796fs)
|
rs1651641615
|
|
|
NM_001267550.2(TTN):c.80445C>A (p.Tyr26815Ter)
|
rs759414143
|
|
|
NM_001267550.2(TTN):c.80458C>T (p.Gln26820Ter)
|
rs2154164995
|
|
|
NM_001267550.2(TTN):c.80466dup (p.Gly26823fs)
|
|
|
|
NM_001267550.2(TTN):c.80478dup (p.Trp26827fs)
|
|
|
|
NM_001267550.2(TTN):c.80504del (p.Val26835fs)
|
|
|
|
NM_001267550.2(TTN):c.80539C>T (p.Gln26847Ter)
|
|
|
|
NM_001267550.2(TTN):c.80547T>A (p.Tyr26849Ter)
|
rs1575673206
|
|
|
NM_001267550.2(TTN):c.80547T>G (p.Tyr26849Ter)
|
rs1575673206
|
|
|
NM_001267550.2(TTN):c.80568T>A (p.Tyr26856Ter)
|
rs769878576
|
|
|
NM_001267550.2(TTN):c.80578G>T (p.Gly26860Ter)
|
|
|
|
NM_001267550.2(TTN):c.80584del (p.Ser26862fs)
|
rs794729348
|
|
|
NM_001267550.2(TTN):c.80635C>T (p.Gln26879Ter)
|
rs79926414
|
|
|
NM_001267550.2(TTN):c.80666del (p.Tyr26889fs)
|
rs2154164836
|
|
|
NM_001267550.2(TTN):c.80736_80742del (p.Trp26913fs)
|
rs1575670635
|
|
|
NM_001267550.2(TTN):c.80740dup (p.Val26914fs)
|
rs2154164758
|
|
|
NM_001267550.2(TTN):c.80762_80765del (p.Lys26921fs)
|
rs2154164725
|
|
|
NM_001267550.2(TTN):c.80772_80773del (p.Arg26925fs)
|
|
|
|
NM_001267550.2(TTN):c.80792dup (p.Ala26932fs)
|
rs2154164664
|
|
|
NM_001267550.2(TTN):c.80801C>G (p.Ser26934Ter)
|
|
|
|
NM_001267550.2(TTN):c.80850C>A (p.Tyr26950Ter)
|
rs794729291
|
|
|
NM_001267550.2(TTN):c.80850C>G (p.Tyr26950Ter)
|
rs794729291
|
|
|
NM_001267550.2(TTN):c.80927_80928del (p.Pro26976fs)
|
rs2154164271
|
|
|
NM_001267550.2(TTN):c.80927del (p.Pro26976fs)
|
rs2154164277
|
|
|
NM_001267550.2(TTN):c.80943dup (p.Phe26982fs)
|
|
|
|
NM_001267550.2(TTN):c.80950_80951del (p.Glu26984fs)
|
|
|
|
NM_001267550.2(TTN):c.80975dup (p.Ser26993fs)
|
|
|
|
NM_001267550.2(TTN):c.80997T>A (p.Tyr26999Ter)
|
|
|
|
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter)
|
rs869038795
|
|
|
NM_001267550.2(TTN):c.81059G>A (p.Trp27020Ter)
|
|
|
|
NM_001267550.2(TTN):c.81096del (p.Lys27033_Ile27034insTer)
|
rs2154163856
|
|
|
NM_001267550.2(TTN):c.81100_81103dup (p.Thr27035fs)
|
rs1060500593
|
|
|
NM_001267550.2(TTN):c.81126del (p.Glu27042fs)
|
rs1553579429
|
|
|
NM_001267550.2(TTN):c.81199C>T (p.Gln27067Ter)
|
|
|
|
NM_001267550.2(TTN):c.81202del (p.Tyr27068fs)
|
rs794729394
|
|
|
NM_001267550.2(TTN):c.81227_81233del (p.Pro27076fs)
|
|
|
|
NM_001267550.2(TTN):c.81243_81261del (p.Thr27082fs)
|
rs749610641
|
|
|
NM_001267550.2(TTN):c.81254C>G (p.Ser27085Ter)
|
rs1705109191
|
|
|
NM_001267550.2(TTN):c.81259del (p.Asp27087fs)
|
rs2154163570
|
|
|
NM_001267550.2(TTN):c.81262_81269del (p.Gln27088fs)
|
rs869312059
|
|
|
NM_001267550.2(TTN):c.81281dup (p.His27094fs)
|
|
|
|
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter)
|
rs557312035
|
|
|
NM_001267550.2(TTN):c.81323del (p.His27108fs)
|
rs1575663530
|
|
|
NM_001267550.2(TTN):c.81337G>T (p.Glu27113Ter)
|
rs794729292
|
|
|
NM_001267550.2(TTN):c.81340_81344del (p.Lys27114fs)
|
rs886038928
|
|
|
NM_001267550.2(TTN):c.81341del (p.Lys27114fs)
|
|
|
|
NM_001267550.2(TTN):c.81357G>A (p.Trp27119Ter)
|
|
|
|
NM_001267550.2(TTN):c.81372_81373del (p.Lys27124fs)
|
rs2154163297
|
|
|
NM_001267550.2(TTN):c.81379del (p.Ile27127fs)
|
rs2154163264
|
|
|
NM_001267550.2(TTN):c.81411del (p.Asp27138fs)
|
rs2154163173
|
|
|
NM_001267550.2(TTN):c.81455_81456del (p.Ile27152fs)
|
|
|
|
NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter)
|
rs397517721
|
|
|
NM_001267550.2(TTN):c.81557_81564del (p.Asn27186fs)
|
rs2154162877
|
|
|
NM_001267550.2(TTN):c.81561_81562insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAACAATGTC (p.Val27187_Thr27188insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyXaaXaaXaaXaaLysLysLysLysLysLysLysArgAsnAsnVal)
|
rs2154162886
|
|
|
NM_001267550.2(TTN):c.81573del (p.Lys27190_Trp27191insTer)
|
rs2154162859
|
|
|
NM_001267550.2(TTN):c.81618_86068del (p.Val27207fs)
|
|
|
|
NM_001267550.2(TTN):c.81629_81632del (p.Lys27210fs)
|
|
|
|
NM_001267550.2(TTN):c.81650G>A (p.Trp27217Ter)
|
rs1559330805
|
|
|
NM_001267550.2(TTN):c.81718del (p.Arg27240fs)
|
rs1575658959
|
|
|
NM_001267550.2(TTN):c.81723T>A (p.Tyr27241Ter)
|
rs769821404
|
|
|
NM_001267550.2(TTN):c.81758del (p.Asn27253fs)
|
rs2154162603
|
|
|
NM_001267550.2(TTN):c.81802del (p.Asp27268fs)
|
rs2154162514
|
|
|
NM_001267550.2(TTN):c.81805G>T (p.Glu27269Ter)
|
|
|
|
NM_001267550.2(TTN):c.81847_81850del (p.Asp27283fs)
|
|
|
|
NM_001267550.2(TTN):c.81886del (p.Glu27296fs)
|
rs727503557
|
|
|
NM_001267550.2(TTN):c.81912_81919dup (p.Val27307fs)
|
|
|
|
NM_001267550.2(TTN):c.81943G>T (p.Glu27315Ter)
|
rs373533040
|
|
|
NM_001267550.2(TTN):c.82001_82002del (p.Leu27334fs)
|
rs1704746759
|
|
|
NM_001267550.2(TTN):c.82044del (p.Ile27348_Leu27349insTer)
|
|
|
|
NM_001267550.2(TTN):c.82113_82132dup (p.Lys27378delinsSerLeuLeuLysGlyLeuTer)
|
rs2154161823
|
|
|
NM_001267550.2(TTN):c.82172G>A (p.Trp27391Ter)
|
rs2154161781
|
|
|
NM_001267550.2(TTN):c.82186dup (p.Gln27396fs)
|
|
|
|
NM_001267550.2(TTN):c.82193del (p.Gly27398fs)
|
rs1064795346
|
|
|
NM_001267550.2(TTN):c.82208C>G (p.Ser27403Ter)
|
rs1704654934
|
|
|
NM_001267550.2(TTN):c.82226del (p.Lys27409fs)
|
rs1575653015
|
|
|
NM_001267550.2(TTN):c.82255C>T (p.Gln27419Ter)
|
rs2154161716
|
|
|
NM_001267550.2(TTN):c.82273C>T (p.Gln27425Ter)
|
rs371332011
|
|
|
NM_001267550.2(TTN):c.82299del (p.Lys27433fs)
|
rs2154161694
|
|
|
NM_001267550.2(TTN):c.82350T>G (p.Tyr27450Ter)
|
rs1060503941
|
|
|
NM_001267550.2(TTN):c.82409del (p.Pro27470fs)
|
|
|
|
NM_001267550.2(TTN):c.82415_82419dup (p.Ser27474fs)
|
|
|
|
NM_001267550.2(TTN):c.82470G>A (p.Trp27490Ter)
|
|
|
|
NM_001267550.2(TTN):c.82512C>A (p.Tyr27504Ter)
|
rs1181684993
|
|
|
NM_001267550.2(TTN):c.82529del (p.Asp27510fs)
|
|
|
|
NM_001267550.2(TTN):c.82535_82538del (p.Glu27512fs)
|
|
|
|
NM_001267550.2(TTN):c.82536del (p.Gly27513fs)
|
rs2154161517
|
|
|
NM_001267550.2(TTN):c.82547G>A (p.Trp27516Ter)
|
rs2154161494
|
|
|
NM_001267550.2(TTN):c.82576del (p.Asp27526fs)
|
|
|
|
NM_001267550.2(TTN):c.82592_82593del (p.Val27531fs)
|
rs1704477893
|
|
|
NM_001267550.2(TTN):c.82594dup (p.Thr27532fs)
|
rs1064795407
|
|
|
NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter)
|
rs779874042
|
|
|
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter)
|
rs869178171
|
|
|
NM_001267550.2(TTN):c.82673dup (p.Ser27559fs)
|
rs1704426915
|
|
|
NM_001267550.2(TTN):c.82684_82685insSVAelement
|
|
|
|
NM_001267550.2(TTN):c.826C>T (p.Gln276Ter)
|
rs2154358498
|
|
|
NM_001267550.2(TTN):c.82727del (p.Asn27576fs)
|
|
|
|
NM_001267550.2(TTN):c.82732A>T (p.Lys27578Ter)
|
rs368850871
|
|
|
NM_001267550.2(TTN):c.82786del (p.Tyr27596fs)
|
rs1704380780
|
|
|
NM_001267550.2(TTN):c.82822G>T (p.Glu27608Ter)
|
rs1704361187
|
|
|
NM_001267550.2(TTN):c.82843del (p.Asp27615fs)
|
|
|
|
NM_001267550.2(TTN):c.82847_82850del (p.Glu27616fs)
|
rs2154161251
|
|
|
NM_001267550.2(TTN):c.82879C>T (p.Gln27627Ter)
|
rs747365357
|
|
|
NM_001267550.2(TTN):c.82895_82896del (p.Thr27632fs)
|
rs796267411
|
|
|
NM_001267550.2(TTN):c.82909A>T (p.Lys27637Ter)
|
|
|
|
NM_001267550.2(TTN):c.82999C>T (p.Gln27667Ter)
|
rs2154161170
|
|
|
NM_001267550.2(TTN):c.83048del (p.Lys27683fs)
|
rs1060500572
|
|
|
NM_001267550.2(TTN):c.8307_8308del (p.Ala2770fs)
|
rs869312037
|
|
|
NM_001267550.2(TTN):c.83104C>T (p.Arg27702Ter)
|
rs1559314812
|
|
|
NM_001267550.2(TTN):c.83125_83131del (p.Trp27709fs)
|
|
|
|
NM_001267550.2(TTN):c.83126G>A (p.Trp27709Ter)
|
rs2154161090
|
|
|
NM_001267550.2(TTN):c.83232T>A (p.Tyr27744Ter)
|
|
|
|
NM_001267550.2(TTN):c.83297C>A (p.Ser27766Ter)
|
|
|
|
NM_001267550.2(TTN):c.83324dup (p.Arg27776fs)
|
rs2154160971
|
|
|
NM_001267550.2(TTN):c.83335A>T (p.Lys27779Ter)
|
rs2154160959
|
|
|
NM_001267550.2(TTN):c.83345C>G (p.Ser27782Ter)
|
rs769862471
|
|
|
NM_001267550.2(TTN):c.83384del (p.Gly27795fs)
|
rs1704151765
|
|
|
NM_001267550.2(TTN):c.83504_83505del (p.Ser27835fs)
|
|
|
|
NM_001267550.2(TTN):c.83609dup (p.Thr27871fs)
|
|
|
|
NM_001267550.2(TTN):c.83635del (p.Thr27879fs)
|
|
|
|
NM_001267550.2(TTN):c.83653G>T (p.Glu27885Ter)
|
rs794729295
|
|
|
NM_001267550.2(TTN):c.83730G>A (p.Trp27910Ter)
|
|
|
|
NM_001267550.2(TTN):c.83739C>A (p.Cys27913Ter)
|
|
|
|
NM_001267550.2(TTN):c.83747_83751del (p.Val27916fs)
|
|
|
|
NM_001267550.2(TTN):c.83788_83789del (p.Glu27930fs)
|
rs1553567622
|
|
|
NM_001267550.2(TTN):c.83830_83836delinsTCACT (p.Arg27944fs)
|
rs1575633082
|
|
|
NM_001267550.2(TTN):c.83971C>T (p.Gln27991Ter)
|
rs1703920233
|
|
|
NM_001267550.2(TTN):c.84024_84025del (p.Arg28008fs)
|
rs1575630957
|
|
|
NM_001267550.2(TTN):c.84062_84065del (p.Ser28021fs)
|
rs1703876192
|
|
|
NM_001267550.2(TTN):c.84063_84066del (p.Ile28022fs)
|
rs796692860
|
|
|
NM_001267550.2(TTN):c.84070_84073del (p.Glu28024fs)
|
rs2154160472
|
|
|
NM_001267550.2(TTN):c.84099T>A (p.Tyr28033Ter)
|
rs762450131
|
|
|
NM_001267550.2(TTN):c.84109_84110del (p.Val28037fs)
|
rs2154160413
|
|
|
NM_001267550.2(TTN):c.84202_84205del (p.Ser28068fs)
|
|
|
|
NM_001267550.2(TTN):c.84228del (p.Ser28075_Trp28076insTer)
|
rs1703813514
|
|
|
NM_001267550.2(TTN):c.84296_84297del (p.Ser28099fs)
|
rs1553565463
|
|
|
NM_001267550.2(TTN):c.84311_84312del (p.Ile28104fs)
|
rs1553565316
|
|
|
NM_001267550.2(TTN):c.84353del (p.Arg28118fs)
|
|
|
|
NM_001267550.2(TTN):c.84365del (p.Gly28122fs)
|
rs750146750
|
|
|
NM_001267550.2(TTN):c.84370_84373del (p.Glu28124fs)
|
rs1559301344
|
|
|
NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter)
|
rs869312119
|
|
|
NM_001267550.2(TTN):c.84405T>G (p.Tyr28135Ter)
|
rs756176112
|
|
|
NM_001267550.2(TTN):c.84464del (p.Pro28155fs)
|
|
|
|
NM_001267550.2(TTN):c.84482del (p.Pro28161fs)
|
rs1060500556
|
|
|
NM_001267550.2(TTN):c.84504dup (p.Ser28169fs)
|
|
|
|
NM_001267550.2(TTN):c.84524G>A (p.Trp28175Ter)
|
rs2154159874
|
|
|
NM_001267550.2(TTN):c.84537_84540dup (p.Asp28181Ter)
|
|
|
|
NM_001267550.2(TTN):c.84586_84589del (p.Arg28196fs)
|
rs1703664543
|
|
|
NM_001267550.2(TTN):c.84602G>A (p.Trp28201Ter)
|
rs2154159779
|
|
|
NM_001267550.2(TTN):c.84607A>T (p.Lys28203Ter)
|
|
|
|
NM_001267550.2(TTN):c.84619del (p.Ile28207fs)
|
rs2154159753
|
|
|
NM_001267550.2(TTN):c.84631del (p.Asp28211fs)
|
rs1703651493
|
|
|
NM_001267550.2(TTN):c.84641_84645del (p.Met28214fs)
|
|
|
|
NM_001267550.2(TTN):c.84642del (p.Met28214fs)
|
|
|
|
NM_001267550.2(TTN):c.84643A>T (p.Lys28215Ter)
|
rs2154159715
|
|
|
NM_001267550.2(TTN):c.84819del (p.Trp28273fs)
|
rs2154159514
|
|
|
NM_001267550.2(TTN):c.84820dup (p.Ser28274fs)
|
rs2154159502
|
|
|
NM_001267550.2(TTN):c.84897G>A (p.Trp28299Ter)
|
rs794729296
|
|
|
NM_001267550.2(TTN):c.84922del (p.Gln28308fs)
|
rs2154159416
|
|
|
NM_001267550.2(TTN):c.84958_84959delinsT (p.Asp28320fs)
|
rs1703522059
|
|
|
NM_001267550.2(TTN):c.84969T>A (p.Tyr28323Ter)
|
|
|
|
NM_001267550.2(TTN):c.84984del (p.Phe28328fs)
|
|
|
|
NM_001267550.2(TTN):c.84984dup (p.Ala28329fs)
|
rs2154159353
|
|
|
NM_001267550.2(TTN):c.85005dup (p.Val28336fs)
|
|
|
|
NM_001267550.2(TTN):c.85013_85014del (p.Glu28338fs)
|
rs2154159323
|
|
|
NM_001267550.2(TTN):c.85150C>T (p.Arg28384Ter)
|
rs1703437679
|
|
|
NM_001267550.2(TTN):c.85180dup (p.Asp28394fs)
|
|
|
|
NM_001267550.2(TTN):c.85254del (p.Asp28419fs)
|
|
|
|
NM_001267550.2(TTN):c.85262dup (p.Arg28422fs)
|
|
|
|
NM_001267550.2(TTN):c.85267C>T (p.Arg28423Ter)
|
rs769664554
|
|
|
NM_001267550.2(TTN):c.85359del (p.Pro28454fs)
|
|
|
|
NM_001267550.2(TTN):c.85408_85409del (p.Leu28470fs)
|
rs2154159007
|
|
|
NM_001267550.2(TTN):c.85431del (p.Asp28478fs)
|
rs1703325248
|
|
|
NM_001267550.2(TTN):c.85458del (p.Tyr28485_Tyr28486insTer)
|
rs2154158972
|
|
|
NM_001267550.2(TTN):c.85486del (p.Ala28497fs)
|
rs2154158948
|
|
|
NM_001267550.2(TTN):c.85493G>A (p.Trp28498Ter)
|
|
|
|
NM_001267550.2(TTN):c.85494G>A (p.Trp28498Ter)
|
|
|
|
NM_001267550.2(TTN):c.85514T>G (p.Leu28505Ter)
|
rs1057520803
|
|
|
NM_001267550.2(TTN):c.85519dup (p.Met28507fs)
|
rs1575614351
|
|
|
NM_001267550.2(TTN):c.85525dup (p.Ser28509fs)
|
rs2154158897
|
|
|
NM_001267550.2(TTN):c.85544T>G (p.Leu28515Ter)
|
rs886041441
|
|
|
NM_001267550.2(TTN):c.85546del (p.Leu28516fs)
|
rs2154158876
|
|
|
NM_001267550.2(TTN):c.85589_85592del (p.Lys28530fs)
|
rs1553562793
|
|
|
NM_001267550.2(TTN):c.85612_85619del (p.Glu28538fs)
|
rs794729353
|
|
|
NM_001267550.2(TTN):c.85640_85652del (p.Pro28547fs)
|
rs762286447
|
|
|
NM_001267550.2(TTN):c.85707_85708del (p.Cys28570fs)
|
rs1219440385
|
|
|
NM_001267550.2(TTN):c.85713G>A (p.Trp28571Ter)
|
rs1575612435
|
|
|
NM_001267550.2(TTN):c.85755T>A (p.Tyr28585Ter)
|
rs1553562490
|
|
|
NM_001267550.2(TTN):c.85790G>A (p.Trp28597Ter)
|
|
|
|
NM_001267550.2(TTN):c.85811del (p.Pro28604fs)
|
|
|
|
NM_001267550.2(TTN):c.85860del (p.Glu28620fs)
|
rs1575611108
|
|
|
NM_001267550.2(TTN):c.85969A>T (p.Lys28657Ter)
|
rs72648224
|
|
|
NM_001267550.2(TTN):c.86003dup (p.Thr28669fs)
|
rs1559284676
|
|
|
NM_001267550.2(TTN):c.86015G>A (p.Trp28672Ter)
|
rs1559284497
|
|
|
NM_001267550.2(TTN):c.86016G>A (p.Trp28672Ter)
|
rs1553562022
|
|
|
NM_001267550.2(TTN):c.86036dup (p.Gly28680fs)
|
rs2154158408
|
|
|
NM_001267550.2(TTN):c.86076del (p.Lys28692fs)
|
rs1285329277
|
|
|
NM_001267550.2(TTN):c.86140G>T (p.Gly28714Ter)
|
|
|
|
NM_001267550.2(TTN):c.86162_86163del (p.Tyr28721fs)
|
rs2154158304
|
|
|
NM_001267550.2(TTN):c.86219_86220del (p.Ser28739_Ser28740insTer)
|
|
|
|
NM_001267550.2(TTN):c.86251G>T (p.Glu28751Ter)
|
rs772058084
|
|
|
NM_001267550.2(TTN):c.86290_86299del (p.Leu28764fs)
|
rs2154158204
|
|
|
NM_001267550.2(TTN):c.86290_86302del (p.Ile28765fs)
|
rs2154158200
|
|
|
NM_001267550.2(TTN):c.86290_86303delinsA (p.Leu28764fs)
|
rs1064792916
|
|
|
NM_001267550.2(TTN):c.86333del (p.Phe28778fs)
|
|
|
|
NM_001267550.2(TTN):c.86354_86821+291del
|
rs1559272130
|
|
|
NM_001267550.2(TTN):c.86392A>T (p.Arg28798Ter)
|
|
|
|
NM_001267550.2(TTN):c.86399_86403del (p.Ala28799_Tyr28800insTer)
|
|
|
|
NM_001267550.2(TTN):c.86407_86408dup (p.Thr28804fs)
|
rs2154158109
|
|
|
NM_001267550.2(TTN):c.86426C>G (p.Ser28809Ter)
|
rs1553560951
|
|
|
NM_001267550.2(TTN):c.86441del (p.Asn28814fs)
|
|
|
|
NM_001267550.2(TTN):c.86474T>G (p.Leu28825Ter)
|
rs794729297
|
|
|
NM_001267550.2(TTN):c.86570dup (p.Thr28858fs)
|
rs2154157942
|
|
|
NM_001267550.2(TTN):c.86597G>A (p.Trp28866Ter)
|
|
|
|
NM_001267550.2(TTN):c.86640C>A (p.Tyr28880Ter)
|
rs794729298
|
|
|
NM_001267550.2(TTN):c.86640C>G (p.Tyr28880Ter)
|
rs794729298
|
|
|
NM_001267550.2(TTN):c.86670del (p.Ala28891fs)
|
rs1702795017
|
|
|
NM_001267550.2(TTN):c.86675G>A (p.Trp28892Ter)
|
rs745896785
|
|
|
NM_001267550.2(TTN):c.86676G>A (p.Trp28892Ter)
|
|
|
|
NM_001267550.2(TTN):c.86699del (p.Asn28900fs)
|
rs2154157834
|
|
|
NM_001267550.2(TTN):c.86742_86745del (p.Tyr28915fs)
|
rs1415420768
|
|
|
NM_001267550.2(TTN):c.86754_86755del (p.Arg28918fs)
|
|
|
|
NM_001267550.2(TTN):c.86822-1del
|
|
|
|
NM_001267550.2(TTN):c.86822-2A>G
|
rs773710035
|
|
|
NM_001267550.2(TTN):c.86889G>A (p.Trp28963Ter)
|
rs1702376984
|
|
|
NM_001267550.2(TTN):c.86889del (p.Trp28963fs)
|
rs1559268818
|
|
|
NM_001267550.2(TTN):c.86905del (p.Asp28969fs)
|
|
|
|
NM_001267550.2(TTN):c.86911G>T (p.Gly28971Ter)
|
|
|
|
NM_001267550.2(TTN):c.86966G>A (p.Trp28989Ter)
|
rs1702355636
|
|
|
NM_001267550.2(TTN):c.86975del (p.Cys28992fs)
|
|
|
|
NM_001267550.2(TTN):c.87004_87005del (p.Val29002fs)
|
|
|
|
NM_001267550.2(TTN):c.87019_87022del (p.Glu29007fs)
|
rs1559267059
|
|
|
NM_001267550.2(TTN):c.87028del (p.Glu29010fs)
|
rs1702337235
|
|
|
NM_001267550.2(TTN):c.87046_87049del (p.Phe29016fs)
|
rs1575592653
|
|
|
NM_001267550.2(TTN):c.87077del (p.Pro29026fs)
|
|
|
|
NM_001267550.2(TTN):c.87077dup (p.Arg29027fs)
|
|
|
|
NM_001267550.2(TTN):c.87106A>T (p.Lys29036Ter)
|
|
|
|
NM_001267550.2(TTN):c.87116_87117dup (p.Glu29040Ter)
|
rs2154156468
|
|
|
NM_001267550.2(TTN):c.87118+1G>A
|
|
|
|
NM_001267550.2(TTN):c.87137_87138del (p.Met29046fs)
|
rs1702243883
|
|
|
NM_001267550.2(TTN):c.87179C>G (p.Ser29060Ter)
|
|
|
|
NM_001267550.2(TTN):c.87233T>G (p.Leu29078Ter)
|
rs2154156172
|
|
|
NM_001267550.2(TTN):c.87238del (p.Arg29080fs)
|
|
|
|
NM_001267550.2(TTN):c.87253del (p.Lys29086fs)
|
rs2154156150
|
|
|
NM_001267550.2(TTN):c.87253delinsTTA (p.Lys29086fs)
|
rs1702209747
|
|
|
NM_001267550.2(TTN):c.87273dup (p.Asn29092Ter)
|
|
|
|
NM_001267550.2(TTN):c.87295_87296insT (p.Asn29099fs)
|
|
|
|
NM_001267550.2(TTN):c.87315dup (p.Glu29106fs)
|
rs1702181550
|
|
|
NM_001267550.2(TTN):c.87340A>T (p.Arg29114Ter)
|
|
|
|
NM_001267550.2(TTN):c.87346_87368dup (p.Ser29123fs)
|
|
|
|
NM_001267550.2(TTN):c.87366del (p.Ser29123fs)
|
rs2154156075
|
|
|
NM_001267550.2(TTN):c.87376_87383dup (p.Phe29129fs)
|
rs1702151195
|
|
|
NM_001267550.2(TTN):c.87451del (p.Thr29151fs)
|
rs2154156000
|
|
|
NM_001267550.2(TTN):c.87459_87460dup (p.Ser29154fs)
|
rs2154155996
|
|
|
NM_001267550.2(TTN):c.87470_87471del (p.Leu29157fs)
|
rs2154155985
|
|
|
NM_001267550.2(TTN):c.87505C>T (p.Gln29169Ter)
|
|
|
|
NM_001267550.2(TTN):c.87515dup (p.Asn29172fs)
|
|
|
|
NM_001267550.2(TTN):c.87532_87538del (p.Arg29178fs)
|
rs2154155943
|
|
|
NM_001267550.2(TTN):c.87554G>A (p.Trp29185Ter)
|
rs1057518275
|
|
|
NM_001267550.2(TTN):c.87566_87567del (p.Ser29189fs)
|
rs2154155928
|
|
|
NM_001267550.2(TTN):c.87624C>A (p.Tyr29208Ter)
|
rs772121356
|
|
|
NM_001267550.2(TTN):c.87664dup (p.Asp29222fs)
|
rs2154155844
|
|
|
NM_001267550.2(TTN):c.87705C>G (p.Tyr29235Ter)
|
rs1575584918
|
|
|
NM_001267550.2(TTN):c.87707dup (p.Thr29237fs)
|
rs1575583160
|
|
|
NM_001267550.2(TTN):c.87716del (p.Gly29239fs)
|
rs869312028
|
|
|
NM_001267550.2(TTN):c.87733dup (p.Trp29245fs)
|
rs1553553671
|
|
|
NM_001267550.2(TTN):c.87734G>A (p.Trp29245Ter)
|
rs1701973330
|
|
|
NM_001267550.2(TTN):c.87751C>T (p.Arg29251Ter)
|
rs794729299
|
|
|
NM_001267550.2(TTN):c.87764del (p.Thr29255fs)
|
rs2154155659
|
|
|
NM_001267550.2(TTN):c.87816T>A (p.Tyr29272Ter)
|
|
|
|
NM_001267550.2(TTN):c.87834_87835del (p.Asp29278fs)
|
rs2154155619
|
|
|
NM_001267550.2(TTN):c.87834_87837del (p.Asp29278fs)
|
|
|
|
NM_001267550.2(TTN):c.87835del (p.Arg29279fs)
|
rs2154155616
|
|
|
NM_001267550.2(TTN):c.87836_87837del (p.Arg29279fs)
|
rs2154155607
|
|
|
NM_001267550.2(TTN):c.87848T>G (p.Leu29283Ter)
|
|
|
|
NM_001267550.2(TTN):c.87852G>A (p.Trp29284Ter)
|
rs1701925645
|
|
|
NM_001267550.2(TTN):c.87888del (p.Phe29297fs)
|
rs1060500399
|
|
|
NM_001267550.2(TTN):c.87931_87935dup (p.Tyr29313fs)
|
rs2154155550
|
|
|
NM_001267550.2(TTN):c.87939T>G (p.Tyr29313Ter)
|
rs200314496
|
|
|
NM_001267550.2(TTN):c.87947del (p.Asn29316fs)
|
|
|
|
NM_001267550.2(TTN):c.87954del (p.Gly29319fs)
|
rs2154155537
|
|
|
NM_001267550.2(TTN):c.87977del (p.Pro29326fs)
|
|
|
|
NM_001267550.2(TTN):c.88009+2T>G
|
rs1701869111
|
|
|
NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter)
|
rs878854428
|
|
|
NM_001267550.2(TTN):c.88091_88094del (p.Gly29364fs)
|
rs2154155280
|
|
|
NM_001267550.2(TTN):c.88092dup (p.Ser29365Ter)
|
|
|
|
NM_001267550.2(TTN):c.88177del (p.Thr29393fs)
|
rs1575576927
|
|
|
NM_001267550.2(TTN):c.88204C>T (p.Gln29402Ter)
|
rs1701741963
|
|
|
NM_001267550.2(TTN):c.88306+1G>C
|
rs727503550
|
|
|
NM_001267550.2(TTN):c.88307-1G>A
|
|
|
|
NM_001267550.2(TTN):c.88313dup (p.Val29439fs)
|
rs2154153508
|
|
|
NM_001267550.2(TTN):c.88422G>A (p.Trp29474Ter)
|
rs1553547657
|
|
|
NM_001267550.2(TTN):c.88437dup (p.Glu29480fs)
|
rs2154153430
|
|
|
NM_001267550.2(TTN):c.88521_88522del (p.Asn29507fs)
|
|
|
|
NM_001267550.2(TTN):c.88562C>A (p.Ser29521Ter)
|
rs1436663696
|
|
|
NM_001267550.2(TTN):c.88594+2T>G
|
rs1057520744
|
|
|
NM_001267550.2(TTN):c.88594_88595insGTAGGTGCTGAATACAGACCACTGTCATATTACATTTGCCTAAAGCTTAGTAATTTTGAACAAGTAGGCTTTAAAGAAGTACTAACATCGTGTTTTGTCCTTTCACTGATAGACAAACCAGGCCCACCTGGTGGACCAATTGAATTTAAGACTGTAACTGCTGAGAAGATCACCCTTCTCTGGCGGCCTCCAGCTGATGATGGTGGTGAAACCTGCGCCTACTATTGAGTGGTATAAAGATGATAAAGAATTACAAACCAATGCACTGGTGTGTGTTGAAAATACCACGGACCTCGCATCTATACTCATCAAAGATGCCGATCGCCTTAATAGTGGATGCTATGAATTAAAACTAAGGAATGCCATGGGCTCAGCCTCAGCCACCATCAGAGTACAGATCCTTGGTAGGTGCTGAATACAGACCACTGTCATATTACATTTGCCTAAAGCTTAGTAATTTTGAACAAGTAGGCTTTAAAGAAGTACTAACATCGTGTTTTGTCCTTTCACTGATAG (p.Asp29532delinsGlyArgCysTer)
|
|
|
|
NM_001267550.2(TTN):c.88703_88704del (p.His29568fs)
|
rs794729360
|
|
|
NM_001267550.2(TTN):c.88721del (p.Arg29574fs)
|
rs1575547155
|
|
|
NM_001267550.2(TTN):c.88825C>T (p.Arg29609Ter)
|
rs766450773
|
|
|
NM_001267550.2(TTN):c.88852_88855del (p.Glu29618fs)
|
rs2154152955
|
|
|
NM_001267550.2(TTN):c.88895-1G>A
|
rs1575540533
|
|
|
NM_001267550.2(TTN):c.88954_88955del (p.Val29652fs)
|
|
|
|
NM_001267550.2(TTN):c.88979_88985del (p.Asp29660fs)
|
rs794727468
|
|
|
NM_001267550.2(TTN):c.89006del (p.Phe29669fs)
|
rs794729361
|
|
|
NM_001267550.2(TTN):c.89006dup (p.Leu29670fs)
|
rs794729361
|
|
|
NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter)
|
rs886038916
|
|
|
NM_001267550.2(TTN):c.89053A>T (p.Lys29685Ter)
|
|
|
|
NM_001267550.2(TTN):c.89075_89078del (p.Arg29692fs)
|
|
|
|
NM_001267550.2(TTN):c.89077C>T (p.Gln29693Ter)
|
|
|
|
NM_001267550.2(TTN):c.89083del (p.Lys29694_Val29695insTer)
|
rs2154152514
|
|
|
NM_001267550.2(TTN):c.89118C>A (p.Tyr29706Ter)
|
rs1700331549
|
|
|
NM_001267550.2(TTN):c.89121_89122del (p.Arg29707fs)
|
rs2154152480
|
|
|
NM_001267550.2(TTN):c.89144dup (p.Gln29716fs)
|
|
|
|
NM_001267550.2(TTN):c.89150del (p.Gly29717fs)
|
rs2154152449
|
|
|
NM_001267550.2(TTN):c.89178C>G (p.Tyr29726Ter)
|
|
|
|
NM_001267550.2(TTN):c.89221dup (p.Ile29741fs)
|
rs1553543413
|
|
|
NM_001267550.2(TTN):c.89222_89226del (p.Ile29741fs)
|
rs1575534947
|
|
|
NM_001267550.2(TTN):c.89270del (p.Lys29757fs)
|
rs794729362
|
|
|
NM_001267550.2(TTN):c.89275_89278del (p.Val29759fs)
|
|
|
|
NM_001267550.2(TTN):c.89280T>A (p.Tyr29760Ter)
|
rs794729385
|
|
|
NM_001267550.2(TTN):c.89306_89307del (p.Tyr29769fs)
|
|
|
|
NM_001267550.2(TTN):c.89307T>A (p.Tyr29769Ter)
|
|
|
|
NM_001267550.2(TTN):c.89307T>G (p.Tyr29769Ter)
|
|
|
|
NM_001267550.2(TTN):c.89322_89326del (p.Gln29775fs)
|
|
|
|
NM_001267550.2(TTN):c.89332del (p.Glu29778fs)
|
|
|
|
NM_001267550.2(TTN):c.89335G>T (p.Glu29779Ter)
|
rs2154152175
|
|
|
NM_001267550.2(TTN):c.89342G>A (p.Trp29781Ter)
|
|
|
|
NM_001267550.2(TTN):c.8938_8939insTTGG (p.Ala2980fs)
|
|
|
|
NM_001267550.2(TTN):c.8938del (p.Ala2980fs)
|
|
|
|
NM_001267550.2(TTN):c.89425del (p.Arg29809fs)
|
|
|
|
NM_001267550.2(TTN):c.89445_89446del (p.Ala29816fs)
|
|
|
|
NM_001267550.2(TTN):c.89449G>T (p.Gly29817Ter)
|
|
|
|
NM_001267550.2(TTN):c.89475_89478del (p.Glu29826fs)
|
|
|
|
NM_001267550.2(TTN):c.89503+1G>C
|
rs1559218619
|
|
|
NM_001267550.2(TTN):c.89504-2_89509del
|
|
|
|
NM_001267550.2(TTN):c.89553del (p.Ala29853fs)
|
rs1575529262
|
|
|
NM_001267550.2(TTN):c.89619dup (p.Arg29874fs)
|
|
|
|
NM_001267550.2(TTN):c.89625del (p.Asp29876fs)
|
rs1559216544
|
|
|
NM_001267550.2(TTN):c.89658C>A (p.Tyr29886Ter)
|
rs1700085960
|
|
|
NM_001267550.2(TTN):c.89684C>G (p.Ser29895Ter)
|
|
|
|
NM_001267550.2(TTN):c.89786_89787dup (p.Val29930fs)
|
|
|
|
NM_001267550.2(TTN):c.89827A>T (p.Lys29943Ter)
|
rs2154151737
|
|
|
NM_001267550.2(TTN):c.89839C>T (p.Arg29947Ter)
|
rs727505224
|
|
|
NM_001267550.2(TTN):c.89861G>A (p.Trp29954Ter)
|
rs1060500457
|
|
|
NM_001267550.2(TTN):c.89882_89885del (p.Gly29961fs)
|
rs2154151697
|
|
|
NM_001267550.2(TTN):c.89884G>T (p.Gly29962Ter)
|
rs2154151700
|
|
|
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs)
|
rs869312081
|
|
|
NM_001267550.2(TTN):c.89940del (p.Trp29980fs)
|
|
|
|
NM_001267550.2(TTN):c.89979del (p.Lys29993fs)
|
|
|
|
NM_001267550.2(TTN):c.89993C>A (p.Ser29998Ter)
|
rs376543931
|
|
|
NM_001267550.2(TTN):c.90058G>T (p.Glu30020Ter)
|
rs1699956677
|
|
|
NM_001267550.2(TTN):c.90085G>T (p.Glu30029Ter)
|
rs1699948037
|
|
|
NM_001267550.2(TTN):c.90113C>G (p.Ser30038Ter)
|
|
|
|
NM_001267550.2(TTN):c.90135dup (p.Ser30046fs)
|
|
|
|
NM_001267550.2(TTN):c.90152G>A (p.Trp30051Ter)
|
|
|
|
NM_001267550.2(TTN):c.90195T>A (p.Tyr30065Ter)
|
rs920201335
|
|
|
NM_001267550.2(TTN):c.90208_90209insSVAelement
|
|
|
|
NM_001267550.2(TTN):c.90223C>T (p.Gln30075Ter)
|
rs786205538
|
|
|
NM_001267550.2(TTN):c.90231G>A (p.Trp30077Ter)
|
rs2154151450
|
|
|
NM_001267550.2(TTN):c.90249del (p.Ser30083fs)
|
rs2154151435
|
|
|
NM_001267550.2(TTN):c.90306_90307del (p.Arg30102fs)
|
rs2154151379
|
|
|
NM_001267550.2(TTN):c.90358del (p.Ile30120fs)
|
rs1699849996
|
|
|
NM_001267550.2(TTN):c.90370G>T (p.Glu30124Ter)
|
rs1553539995
|
|
|
NM_001267550.2(TTN):c.90388G>T (p.Glu30130Ter)
|
rs2154151318
|
|
|
NM_001267550.2(TTN):c.90415_90421dup (p.Val30141fs)
|
rs1699828609
|
|
|
NM_001267550.2(TTN):c.90418C>T (p.Gln30140Ter)
|
rs2154151302
|
|
|
NM_001267550.2(TTN):c.90486_90489del (p.Ile30163fs)
|
rs2154151260
|
|
|
NM_001267550.2(TTN):c.90495G>A (p.Trp30165Ter)
|
|
|
|
NM_001267550.2(TTN):c.90587del (p.Lys30196fs)
|
rs397517749
|
|
|
NM_001267550.2(TTN):c.90587dup (p.Glu30197fs)
|
|
|
|
NM_001267550.2(TTN):c.90594dup (p.Gly30199fs)
|
rs1553539686
|
|
|
NM_001267550.2(TTN):c.90605dup (p.Tyr30202Ter)
|
rs2154151177
|
|
|
NM_001267550.2(TTN):c.90623dup (p.Asn30208fs)
|
rs1553539620
|
|
|
NM_001267550.2(TTN):c.90628del (p.Val30210fs)
|
rs2154151163
|
|
|
NM_001267550.2(TTN):c.90653_90654del (p.Thr30218fs)
|
rs794729363
|
|
|
NM_001267550.2(TTN):c.90657del (p.Ile30220fs)
|
|
|
|
NM_001267550.2(TTN):c.90696del (p.Arg30233fs)
|
rs1699711208
|
|
|
NM_001267550.2(TTN):c.90699del (p.Phe30234fs)
|
rs2154151080
|
|
|
NM_001267550.2(TTN):c.90702del (p.Phe30234fs)
|
|
|
|
NM_001267550.2(TTN):c.90737G>A (p.Trp30246Ter)
|
rs2154151058
|
|
|
NM_001267550.2(TTN):c.90739del (p.Asp30247fs)
|
|
|
|
NM_001267550.2(TTN):c.90760G>T (p.Gly30254Ter)
|
rs1060500495
|
|
|
NM_001267550.2(TTN):c.90841A>T (p.Arg30281Ter)
|
|
|
|
NM_001267550.2(TTN):c.90844del (p.Thr30282fs)
|
rs2154150991
|
|
|
NM_001267550.2(TTN):c.90883dup (p.Tyr30295fs)
|
rs1699641688
|
|
|
NM_001267550.2(TTN):c.90910A>T (p.Arg30304Ter)
|
rs773538148
|
|
|
NM_001267550.2(TTN):c.90914dup (p.Tyr30305Ter)
|
|
|
|
NM_001267550.2(TTN):c.90915C>G (p.Tyr30305Ter)
|
|
|
|
NM_001267550.2(TTN):c.90994_90997dup (p.Ile30333fs)
|
rs1559200975
|
|
|
NM_001267550.2(TTN):c.91025C>A (p.Ser30342Ter)
|
rs2154150847
|
|
|
NM_001267550.2(TTN):c.91097_91100del (p.Arg30366fs)
|
rs769422187
|
|
|
NM_001267550.2(TTN):c.91101_91102dup (p.Ser30368fs)
|
|
|
|
NM_001267550.2(TTN):c.9112T>C (p.Tyr3038His)
|
rs886037909
|
|
|
NM_001267550.2(TTN):c.91192del (p.Arg30398fs)
|
|
|
|
NM_001267550.2(TTN):c.91257del (p.Val30420fs)
|
|
|
|
NM_001267550.2(TTN):c.91270+1G>A
|
rs2154150675
|
|
|
NM_001267550.2(TTN):c.91312del (p.Thr30438fs)
|
|
|
|
NM_001267550.2(TTN):c.91343_91344insA (p.Arg30448_Asp30449insTer)
|
rs2154150232
|
|
|
NM_001267550.2(TTN):c.91445_91446del (p.Thr30482fs)
|
rs1699247877
|
|
|
NM_001267550.2(TTN):c.91476T>G (p.Tyr30492Ter)
|
rs727504646
|
|
|
NM_001267550.2(TTN):c.91551_91552del (p.Arg30518_Asp30519insTer)
|
|
|
|
NM_001267550.2(TTN):c.91564+2T>C
|
rs1699208458
|
|
|
NM_001267550.2(TTN):c.91589del (p.Pro30530fs)
|
|
|
|
NM_001267550.2(TTN):c.91615_91616dup (p.Gly30541fs)
|
rs1559187287
|
|
|
NM_001267550.2(TTN):c.91655del (p.Gly30552fs)
|
rs1698781465
|
|
|
NM_001267550.2(TTN):c.91669C>T (p.Arg30557Ter)
|
rs1553536305
|
|
|
NM_001267550.2(TTN):c.91678_91685dup (p.Lys30562fs)
|
rs2154148938
|
|
|
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs)
|
rs779129892
|
|
|
NM_001267550.2(TTN):c.91798_91799insT (p.Glu30600fs)
|
rs886042502
|
|
|
NM_001267550.2(TTN):c.9189_9190del (p.His3063_Ile3064insTer)
|
|
|
|
NM_001267550.2(TTN):c.91920G>A (p.Trp30640Ter)
|
rs1698600051
|
|
|
NM_001267550.2(TTN):c.91965C>A (p.Tyr30655Ter)
|
rs1060500402
|
|
|
NM_001267550.2(TTN):c.91977del (p.Lys30659fs)
|
|
|
|
NM_001267550.2(TTN):c.91993del (p.Ala30666fs)
|
|
|
|
NM_001267550.2(TTN):c.92017A>T (p.Lys30673Ter)
|
rs2154148429
|
|
|
NM_001267550.2(TTN):c.92049del (p.Lys30683fs)
|
|
|
|
NM_001267550.2(TTN):c.92063del (p.Asn30688fs)
|
|
|
|
NM_001267550.2(TTN):c.92079dup (p.Val30694fs)
|
rs2154148371
|
|
|
NM_001267550.2(TTN):c.92146C>T (p.Gln30716Ter)
|
|
|
|
NM_001267550.2(TTN):c.92152+1G>C
|
|
|
|
NM_001267550.2(TTN):c.92169del (p.Gly30724fs)
|
|
|
|
NM_001267550.2(TTN):c.92173dup (p.Ile30725fs)
|
|
|
|
NM_001267550.2(TTN):c.92236_92237del (p.Asp30746fs)
|
rs2154148134
|
|
|
NM_001267550.2(TTN):c.92284_92288del (p.Lys30762fs)
|
rs756367933
|
|
|
NM_001267550.2(TTN):c.92284_92288dup (p.Ser30763fs)
|
rs756367933
|
|
|
NM_001267550.2(TTN):c.92294del (p.Arg30765fs)
|
|
|
|
NM_001267550.2(TTN):c.92298G>A (p.Trp30766Ter)
|
|
|
|
NM_001267550.2(TTN):c.92498del (p.Thr30833fs)
|
rs2154147918
|
|
|
NM_001267550.2(TTN):c.92504del (p.Lys30835fs)
|
rs2154147910
|
|
|
NM_001267550.2(TTN):c.92519T>G (p.Leu30840Ter)
|
|
|
|
NM_001267550.2(TTN):c.92526G>A (p.Trp30842Ter)
|
rs2154147893
|
|
|
NM_001267550.2(TTN):c.92569_92570del (p.Ile30857fs)
|
rs2154147864
|
|
|
NM_001267550.2(TTN):c.92603G>A (p.Trp30868Ter)
|
rs2154147843
|
|
|
NM_001267550.2(TTN):c.92604G>A (p.Trp30868Ter)
|
|
|
|
NM_001267550.2(TTN):c.92631dup (p.Lys30878fs)
|
rs886039145
|
|
|
NM_001267550.2(TTN):c.92652_92659del (p.Asp30885fs)
|
rs1559175090
|
|
|
NM_001267550.2(TTN):c.92659C>T (p.Gln30887Ter)
|
rs1305222903
|
|
|
NM_001267550.2(TTN):c.92671G>T (p.Glu30891Ter)
|
|
|
|
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter)
|
rs869312065
|
|
|
NM_001267550.2(TTN):c.92688_92691dup (p.Ala30898Ter)
|
|
|
|
NM_001267550.2(TTN):c.92795_92798del (p.Lys30932fs)
|
|
|
|
NM_001267550.2(TTN):c.92797C>T (p.Gln30933Ter)
|
rs1553532356
|
|
|
NM_001267550.2(TTN):c.92884_92887del (p.Pro30962fs)
|
rs1698201730
|
|
|
NM_001267550.2(TTN):c.92962A>T (p.Arg30988Ter)
|
rs1698169393
|
|
|
NM_001267550.2(TTN):c.93034A>T (p.Lys31012Ter)
|
rs2154147529
|
|
|
NM_001267550.2(TTN):c.93050del (p.Pro31017fs)
|
|
|
|
NM_001267550.2(TTN):c.93091G>T (p.Gly31031Ter)
|
rs907669905
|
|
|
NM_001267550.2(TTN):c.93106dup (p.Met31036fs)
|
rs2154147449
|
|
|
NM_001267550.2(TTN):c.93119dup (p.Leu31041fs)
|
|
|
|
NM_001267550.2(TTN):c.93145_93146del (p.His31049fs)
|
|
|
|
NM_001267550.2(TTN):c.93153T>G (p.Tyr31051Ter)
|
|
|
|
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter)
|
rs72648250
|
|
|
NM_001267550.2(TTN):c.93181del (p.Arg31061fs)
|
rs2154147379
|
|
|
NM_001267550.2(TTN):c.93288T>A (p.Tyr31096Ter)
|
|
|
|
NM_001267550.2(TTN):c.93337C>T (p.Gln31113Ter)
|
rs1454572839
|
|
|
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer)
|
rs886044536
|
|
|
NM_001267550.2(TTN):c.93541G>T (p.Glu31181Ter)
|
rs1243301263
|
|
|
NM_001267550.2(TTN):c.93592del (p.Arg31198fs)
|
|
|
|
NM_001267550.2(TTN):c.93641del (p.Thr31214fs)
|
|
|
|
NM_001267550.2(TTN):c.93735del (p.Lys31246_Val31247insTer)
|
|
|
|
NM_001267550.2(TTN):c.93735dup (p.Lys31246fs)
|
|
|
|
NM_001267550.2(TTN):c.93754del (p.Glu31252fs)
|
|
|
|
NM_001267550.2(TTN):c.93764_93765del (p.Arg31255fs)
|
|
|
|
NM_001267550.2(TTN):c.93766del (p.Glu31258fs)
|
|
|
|
NM_001267550.2(TTN):c.93772G>T (p.Glu31258Ter)
|
|
|
|
NM_001267550.2(TTN):c.93781C>T (p.Arg31261Ter)
|
rs1553528016
|
|
|
NM_001267550.2(TTN):c.93784_93785insCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGACAGATCGAG (p.Arg31261_Val31262insAlaProSerProValSerLeuSerLeuSerArgLeuProLeuProLeuProSerProSerProSerProValSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluThrAspArg)
|
rs2154146971
|
|
|
NM_001267550.2(TTN):c.93853A>T (p.Arg31285Ter)
|
|
|
|
NM_001267550.2(TTN):c.93897del (p.Phe31299fs)
|
rs397517758
|
|
|
NM_001267550.2(TTN):c.93956C>A (p.Ser31319Ter)
|
rs2154146843
|
|
|
NM_001267550.2(TTN):c.94032C>A (p.Tyr31344Ter)
|
|
|
|
NM_001267550.2(TTN):c.94067G>A (p.Trp31356Ter)
|
|
|
|
NM_001267550.2(TTN):c.94128del (p.Lys31375_Tyr31376insTer)
|
rs2154146720
|
|
|
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs)
|
rs727503547
|
|
|
NM_001267550.2(TTN):c.94182_94183insAGCAGCT (p.Leu31395fs)
|
rs1219954334
|
|
|
NM_001267550.2(TTN):c.94220-1G>A
|
rs1553525592
|
|
|
NM_001267550.2(TTN):c.94220-2A>G
|
|
|
|
NM_001267550.2(TTN):c.94263del (p.Ala31422fs)
|
|
|
|
NM_001267550.2(TTN):c.94266dup (p.Asn31423fs)
|
|
|
|
NM_001267550.2(TTN):c.94291G>T (p.Glu31431Ter)
|
rs1697595705
|
|
|
NM_001267550.2(TTN):c.94331G>A (p.Trp31444Ter)
|
rs1429264347
|
|
|
NM_001267550.2(TTN):c.94332G>A (p.Trp31444Ter)
|
rs1697578690
|
|
|
NM_001267550.2(TTN):c.94365G>A (p.Trp31455Ter)
|
|
|
|
NM_001267550.2(TTN):c.94371del (p.Glu31458fs)
|
rs1553524807
|
|
|
NM_001267550.2(TTN):c.94405A>T (p.Lys31469Ter)
|
rs1553524697
|
|
|
NM_001267550.2(TTN):c.94407del (p.Lys31469_Val31470insTer)
|
|
|
|
NM_001267550.2(TTN):c.94418T>A (p.Leu31473Ter)
|
|
|
|
NM_001267550.2(TTN):c.94437T>G (p.Tyr31479Ter)
|
|
|
|
NM_001267550.2(TTN):c.94448del (p.Thr31483fs)
|
rs2154146389
|
|
|
NM_001267550.2(TTN):c.94562C>G (p.Ser31521Ter)
|
|
|
|
NM_001267550.2(TTN):c.94581G>A (p.Trp31527Ter)
|
|
|
|
NM_001267550.2(TTN):c.94747_94748del (p.Arg31583fs)
|
rs1697311515
|
|
|
NM_001267550.2(TTN):c.94752_94753dup (p.Leu31585fs)
|
|
|
|
NM_001267550.2(TTN):c.94788del (p.Ser31597fs)
|
|
|
|
NM_001267550.2(TTN):c.94805_94806del (p.Pro31602fs)
|
|
|
|
NM_001267550.2(TTN):c.94816C>T (p.Arg31606Ter)
|
rs1060500435
|
|
|
NM_001267550.2(TTN):c.94827C>G (p.Tyr31609Ter)
|
|
|
|
NM_001267550.2(TTN):c.94903_94904del (p.Leu31635fs)
|
|
|
|
NM_001267550.2(TTN):c.94939del (p.Ile31647fs)
|
rs1553521978
|
|
|
NM_001267550.2(TTN):c.94991T>A (p.Leu31664Ter)
|
rs2154145831
|
|
|
NM_001267550.2(TTN):c.95008C>T (p.Arg31670Ter)
|
rs1322596650
|
|
|
NM_001267550.2(TTN):c.95023_95024del (p.Ile31675fs)
|
rs1697105934
|
|
|
NM_001267550.2(TTN):c.95051_95070del (p.Gly31684fs)
|
rs2154145769
|
|
|
NM_001267550.2(TTN):c.95055del (p.Lys31685fs)
|
rs1174834630
|
|
|
NM_001267550.2(TTN):c.95062_95063del (p.Leu31688fs)
|
rs2154145784
|
|
|
NM_001267550.2(TTN):c.95063T>A (p.Leu31688Ter)
|
rs794729538
|
|
|
NM_001267550.2(TTN):c.95063T>G (p.Leu31688Ter)
|
rs794729538
|
|
|
NM_001267550.2(TTN):c.95075dup (p.Asn31692fs)
|
rs1697077852
|
|
|
NM_001267550.2(TTN):c.95119+1G>C
|
|
|
|
NM_001267550.2(TTN):c.95120-2A>G
|
rs2154145628
|
|
|
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg)
|
rs869320739
|
|
|
NM_001267550.2(TTN):c.95163_95176del (p.Gln31722fs)
|
|
|
|
NM_001267550.2(TTN):c.95164C>T (p.Gln31722Ter)
|
rs2154145603
|
|
|
NM_001267550.2(TTN):c.95200del (p.Glu31734fs)
|
|
|
|
NM_001267550.2(TTN):c.95246del (p.Glu31749fs)
|
rs1696922090
|
|
|
NM_001267550.2(TTN):c.95264G>A (p.Trp31755Ter)
|
rs1696912764
|
|
|
NM_001267550.2(TTN):c.95266del (p.Trp31755_Val31756insTer)
|
rs2154145523
|
|
|
NM_001267550.2(TTN):c.95289_95298del (p.Thr31764fs)
|
rs1575442120
|
|
|
NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter)
|
rs780414947
|
|
|
NM_001267550.2(TTN):c.95370dup (p.Gly31791fs)
|
rs2154145442
|
|
|
NM_001267550.2(TTN):c.95415_95416+2del
|
rs769407533
|
|
|
NM_001267550.2(TTN):c.95446G>T (p.Glu31816Ter)
|
|
|
|
NM_001267550.2(TTN):c.95469dup (p.Ile31824fs)
|
rs1553520581
|
|
|
NM_001267550.2(TTN):c.95490dup (p.Pro31831fs)
|
rs2154145209
|
|
|
NM_001267550.2(TTN):c.9553G>T (p.Glu3185Ter)
|
|
|
|
NM_001267550.2(TTN):c.95576_95577del (p.Lys31859fs)
|
|
|
|
NM_001267550.2(TTN):c.95669del (p.Gly31890fs)
|
rs2154145062
|
|
|
NM_001267550.2(TTN):c.95722+1G>C
|
|
|
|
NM_001267550.2(TTN):c.95723-2A>C
|
rs2154144335
|
|
|
NM_001267550.2(TTN):c.95735del (p.Pro31912fs)
|
rs1553519454
|
|
|
NM_001267550.2(TTN):c.95738del (p.Pro31913fs)
|
|
|
|
NM_001267550.2(TTN):c.95747_95753del (p.Pro31916fs)
|
|
|
|
NM_001267550.2(TTN):c.95770del (p.His31924fs)
|
rs794729364
|
|
|
NM_001267550.2(TTN):c.95772_95773del (p.His31924fs)
|
rs1060500544
|
|
|
NM_001267550.2(TTN):c.95802del (p.Met31934fs)
|
|
|
|
NM_001267550.2(TTN):c.95805C>A (p.Tyr31935Ter)
|
rs375076970
|
|
|
NM_001267550.2(TTN):c.95806del (p.Asp31936fs)
|
|
|
|
NM_001267550.2(TTN):c.95829_95830insG (p.Tyr31944fs)
|
|
|
|
NM_001267550.2(TTN):c.95845C>T (p.Gln31949Ter)
|
rs2154144237
|
|
|
NM_001267550.2(TTN):c.95848G>T (p.Glu31950Ter)
|
|
|
|
NM_001267550.2(TTN):c.95872C>T (p.Arg31958Ter)
|
rs2154144218
|
|
|
NM_001267550.2(TTN):c.95992G>T (p.Glu31998Ter)
|
rs775585263
|
|
|
NM_001267550.2(TTN):c.95992del (p.Glu31998fs)
|
rs2154144138
|
|
|
NM_001267550.2(TTN):c.96069dup (p.Val32024fs)
|
rs878854432
|
|
|
NM_001267550.2(TTN):c.96105_96106insACAGGAG (p.Val32036fs)
|
rs1695870572
|
|
|
NM_001267550.2(TTN):c.96110_96113del (p.Ser32037fs)
|
|
|
|
NM_001267550.2(TTN):c.96158_96177dup (p.Ile32060fs)
|
|
|
|
NM_001267550.2(TTN):c.96233_96236delinsCCT (p.Tyr32078fs)
|
rs1553518529
|
|
|
NM_001267550.2(TTN):c.96260_96279dup (p.Lys32094fs)
|
rs2154143867
|
|
|
NM_001267550.2(TTN):c.96303dup (p.Val32102fs)
|
rs1695788718
|
|
|
NM_001267550.2(TTN):c.9630del (p.Arg3211fs)
|
|
|
|
NM_001267550.2(TTN):c.96377G>A (p.Trp32126Ter)
|
rs1695634838
|
|
|
NM_001267550.2(TTN):c.96420C>A (p.Tyr32140Ter)
|
rs1009407656
|
|
|
NM_001267550.2(TTN):c.96464del (p.Val32155fs)
|
rs2154143564
|
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NM_001267550.2(TTN):c.96525C>G (p.Tyr32175Ter)
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NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter)
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rs2154143423
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NM_001267550.2(TTN):c.96679del (p.Leu32227fs)
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rs2154143419
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NM_001267550.2(TTN):c.96680_96684del (p.Leu32227fs)
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NM_001267550.2(TTN):c.96682dup (p.Tyr32228fs)
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rs2154143418
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NM_001267550.2(TTN):c.96697C>T (p.Arg32233Ter)
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rs781171206
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NM_001267550.2(TTN):c.96731del (p.Ala32244fs)
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rs2154143380
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NM_001267550.2(TTN):c.96742A>T (p.Arg32248Ter)
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NM_001267550.2(TTN):c.96746G>A (p.Trp32249Ter)
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rs2154143363
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NM_001267550.2(TTN):c.96824_96831del (p.Leu32274_Phe32275insTer)
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rs2154143307
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NM_001267550.2(TTN):c.96838C>T (p.Gln32280Ter)
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NM_001267550.2(TTN):c.96849del (p.Gly32284fs)
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rs2154143293
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NM_001267550.2(TTN):c.96870_96871del (p.Glu32290fs)
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rs1695435412
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NM_001267550.2(TTN):c.96904+1G>A
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rs1553517092
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NM_001267550.2(TTN):c.96905-1G>A
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NM_001267550.2(TTN):c.96909dup (p.Pro32304fs)
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rs1553516759
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NM_001267550.2(TTN):c.96937C>T (p.Gln32313Ter)
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rs1695289576
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NM_001267550.2(TTN):c.96944_96945dup (p.Ile32316fs)
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NM_001267550.2(TTN):c.96997del (p.Arg32333fs)
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rs1695259740
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NM_001267550.2(TTN):c.97006_97021del (p.Pro32336fs)
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rs2154142958
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NM_001267550.2(TTN):c.97011del (p.Ala32338fs)
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NM_001267550.2(TTN):c.97025_97035del (p.Phe32341_Phe32342insTer)
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NM_001267550.2(TTN):c.9703+1G>A
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NM_001267550.2(TTN):c.97114dup (p.Arg32372fs)
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rs1064793419
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NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs)
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rs748382770
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NM_001267550.2(TTN):c.97134del (p.Glu32380fs)
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NM_001267550.2(TTN):c.97141_97145del (p.Leu32381fs)
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NM_001267550.2(TTN):c.97179_97183del (p.Lys32393fs)
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NM_001267550.2(TTN):c.97192+1G>C
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NM_001267550.2(TTN):c.97193-2A>C
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NM_001267550.2(TTN):c.97263G>A (p.Trp32421Ter)
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rs2154142586
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NM_001267550.2(TTN):c.97294_97295del (p.Leu32432fs)
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rs2154142563
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NM_001267550.2(TTN):c.97312G>T (p.Glu32438Ter)
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NM_001267550.2(TTN):c.97315C>T (p.Gln32439Ter)
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rs767837705
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NM_001267550.2(TTN):c.97358C>G (p.Ser32453Ter)
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NM_001267550.2(TTN):c.97395del (p.Glu32466fs)
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rs1553515473
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NM_001267550.2(TTN):c.97405_97408dup (p.Tyr32470Ter)
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NM_001267550.2(TTN):c.97451_97452del (p.Ser32484fs)
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rs878854433
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NM_001267550.2(TTN):c.97470_97492+248del
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rs1559108136
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NM_001267550.2(TTN):c.97472_97473del (p.Ile32491fs)
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NM_001267550.2(TTN):c.97475_97476del (p.Glu32492fs)
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rs2154142418
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NM_001267550.2(TTN):c.97506_97507insTT (p.Pro32503fs)
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rs1694530382
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NM_001267550.2(TTN):c.97520del (p.Gln32507fs)
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rs1694523513
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NM_001267550.2(TTN):c.97523_97527del (p.Ile32508fs)
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rs794729395
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NM_001267550.2(TTN):c.97555dup (p.Thr32519fs)
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NM_001267550.2(TTN):c.97588dup (p.Gln32530fs)
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rs2154141656
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NM_001267550.2(TTN):c.97629del (p.Asp32544fs)
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NM_001267550.2(TTN):c.97633C>T (p.Arg32545Ter)
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rs780653613
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NM_001267550.2(TTN):c.97637G>A (p.Trp32546Ter)
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NM_001267550.2(TTN):c.97647_97663dup (p.Thr32555delinsLysIleLysTyrLeuTer)
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rs2154141588
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NM_001267550.2(TTN):c.97813C>T (p.Gln32605Ter)
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rs1301441435
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NM_001267550.2(TTN):c.97855_97871dup (p.Glu32625fs)
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NM_001267550.2(TTN):c.97927del (p.Asp32643fs)
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NM_001267550.2(TTN):c.97950dup (p.Asn32651Ter)
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rs2154140546
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NM_001267550.2(TTN):c.97972C>T (p.Arg32658Ter)
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NM_001267550.2(TTN):c.98019_98031dup (p.Cys32678fs)
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NM_001267550.2(TTN):c.98072del (p.Gly32691fs)
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NM_001267550.2(TTN):c.98077_98080del (p.Val32693fs)
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NM_001267550.2(TTN):c.98098+1G>T
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NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter)
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rs727504679
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NM_001267550.2(TTN):c.98136del (p.Gly32713fs)
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rs2154140292
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NM_001267550.2(TTN):c.98164del (p.Ile32722fs)
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NM_001267550.2(TTN):c.98168_98169del (p.Arg32723fs)
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rs2154140269
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NM_001267550.2(TTN):c.98171_98174dup (p.Ile32726fs)
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rs1275153634
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NM_001267550.2(TTN):c.98299del (p.Arg32767fs)
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rs772061676
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NM_001267550.2(TTN):c.98324del (p.Leu32775fs)
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rs2154140145
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NM_001267550.2(TTN):c.98421_98422insGG (p.Ile32808fs)
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rs2154140080
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NM_001267550.2(TTN):c.98432_98433dup (p.Ser32812fs)
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NM_001267550.2(TTN):c.98450G>A (p.Trp32817Ter)
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rs2154140054
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NM_001267550.2(TTN):c.98500del (p.Glu32834fs)
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rs2154140017
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NM_001267550.2(TTN):c.98515_98568del (p.Pro32839_Val32856del)
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rs1693333622
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NM_001267550.2(TTN):c.98528G>A (p.Trp32843Ter)
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rs727504550
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NM_001267550.2(TTN):c.98551C>T (p.Arg32851Ter)
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rs553821887
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NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro)
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rs587780495
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NM_001267550.2(TTN):c.98623C>T (p.Gln32875Ter)
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rs1693309648
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NM_001267550.2(TTN):c.98625_98634del (p.Phe32876fs)
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rs2154139897
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NM_001267550.2(TTN):c.98627_98628del (p.Phe32876fs)
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NM_001267550.2(TTN):c.98637del (p.Ser32879fs)
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NM_001267550.2(TTN):c.98660del (p.Pro32887fs)
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rs1553509300
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NM_001267550.2(TTN):c.98774del (p.Gly32925fs)
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rs2154139656
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NM_001267550.2(TTN):c.98803G>T (p.Glu32935Ter)
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rs1407053984
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NM_001267550.2(TTN):c.98810_98811del (p.Lys32937fs)
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NM_001267550.2(TTN):c.98989+1G>A
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rs112240298
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NM_001267550.2(TTN):c.98989+2T>C
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NM_001267550.2(TTN):c.98990-2A>C
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rs2154139399
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NM_001267550.2(TTN):c.98992A>T (p.Lys32998Ter)
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NM_001267550.2(TTN):c.99033del (p.Asp33013fs)
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NM_001267550.2(TTN):c.99034A>T (p.Lys33012Ter)
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rs771511344
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NM_001267550.2(TTN):c.99038_99041dup (p.Ser33014delinsArgTer)
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NM_001267550.2(TTN):c.99041del (p.Ser33014fs)
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rs2154139357
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NM_001267550.2(TTN):c.99063del (p.Lys33021fs)
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rs1445687820
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NM_001267550.2(TTN):c.99113_99114del (p.Arg33038fs)
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rs2154139316
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NM_001267550.2(TTN):c.99156dup (p.Ile33053fs)
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rs2154139263
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NM_001267550.2(TTN):c.99181G>T (p.Gly33061Ter)
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NM_001267550.2(TTN):c.99184_99185dup (p.Leu33063fs)
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rs794729396
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NM_001267550.2(TTN):c.99256A>T (p.Arg33086Ter)
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NM_001267550.2(TTN):c.99289+1G>C
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rs2154139165
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NM_001267550.2(TTN):c.99315del (p.Glu33106fs)
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NM_001267550.2(TTN):c.99362C>G (p.Ser33121Ter)
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NM_001267550.2(TTN):c.99366C>A (p.Cys33122Ter)
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NM_001267550.2(TTN):c.99405_99406del (p.Tyr33135_Arg33136delinsTer)
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NM_001267550.2(TTN):c.99463dup (p.Thr33155fs)
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NM_001267550.2(TTN):c.99487G>T (p.Glu33163Ter)
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NM_001267550.2(TTN):c.99493C>T (p.Gln33165Ter)
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NM_001267550.2(TTN):c.99498del (p.Asp33167fs)
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NM_001267550.2(TTN):c.99583C>T (p.Gln33195Ter)
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NM_001267550.2(TTN):c.99588_99595del (p.Phe33196fs)
|
rs1553504889
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NM_001267550.2(TTN):c.99610G>T (p.Glu33204Ter)
|
rs1490008675
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NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter)
|
rs794727539
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NM_001267550.2(TTN):c.99783dup (p.Lys33262Ter)
|
rs1575324979
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|
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NM_001267550.2(TTN):c.99786_99790del (p.Thr33263fs)
|
rs2154138232
|
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NM_001267550.2(TTN):c.99797_99800dup (p.Tyr33268fs)
|
|
|
|
NM_001267550.2(TTN):c.99853_99854insGGGAAATACAAATTCCAGCTCAGCAATGTTTTTGGAACAGTTGATGCCATCCTTGATG (p.Val33285delinsGlyGluIleGlnIleProAlaGlnGlnCysPheTrpAsnSerTer)
|
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NM_001267550.2(TTN):c.99865+1G>T
|
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NM_001267550.2(TTN):c.99874del (p.Asp33292fs)
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NM_001267550.2(TTN):c.9988+2T>C
|
rs1298389127
|
|
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NM_001267550.2(TTN):c.99906_99916del (p.Leu33304fs)
|
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NM_001267550.2(TTN):c.99909del (p.Leu33303_Leu33304insTer)
|
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NM_001267550.2(TTN):c.99935G>A (p.Trp33312Ter)
|
rs2154138051
|
|
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NM_001267550.2(TTN):c.[32471-1G>A];[55732+5G>C]
|
|
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NM_001267550.2(TTN):c.[62674G>A];[68984A>C]
|
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|
NM_003319.4(TTN):c.53802_53817del (p.Ala17933_Tyr17934insTer)
|
rs727503559
|
|
|
NM_005876.5(SPEG):c.2183del (p.Leu728fs)
|
rs1575065895
|
|
|
NM_005876.5(SPEG):c.6697C>T (p.Gln2233Ter)
|
rs587777672
|
|
|
NM_005876.5(SPEG):c.7262_7280dup (p.Ala2428fs)
|
|
|
|
NM_005876.5(SPEG):c.7795G>T (p.Glu2599Ter)
|
|
|
|
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs)
|
rs1575201712
|
|
|
NM_133378.4(TTN):c.41592_41611del (p.Val13865fs)
|
rs727504825
|
|
|
NM_133378.4(TTN):c.[38532C>A];[52301A>G]
|
|
|
|
NM_133378.4(TTN):c.[98049dupA];[99250C>T]
|
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|
|
NM_133379.5(TTN):c.16452del (p.Lys5484_Val5485insTer)
|
|
|
|
NM_139343.3(BIN1):c.1002+2T>C
|
rs1553458019
|
|
|
NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter)
|
rs121909275
|
|
|
NM_139343.3(BIN1):c.433C>T (p.Arg145Cys)
|
rs1249621033
|
|
|
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln)
|
rs267606681
|
|
|
Single allele
|
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