ClinVar Miner

List of variants in gene TTN reported as pathogenic for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 368
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00029
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter) rs370912401 0.00010
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.86821+2T>A rs397517735 0.00005
NM_001267550.2(TTN):c.13696C>T (p.Gln4566Ter) rs775072385 0.00004
NM_001267550.2(TTN):c.40409-1G>A rs1285884266 0.00004
NM_001267550.2(TTN):c.14339G>A (p.Ser4780Asn) rs147879266 0.00003
NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter) rs886042995 0.00003
NM_001267550.2(TTN):c.27607G>T (p.Glu9203Ter) rs769097909 0.00003
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter) rs727504198 0.00003
NM_001267550.2(TTN):c.41641C>T (p.Arg13881Ter) rs747469275 0.00003
NM_001267550.2(TTN):c.49648+2del rs727504851 0.00003
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494 0.00003
NM_001267550.2(TTN):c.89197+1G>C rs1131691873 0.00003
NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter) rs757836789 0.00003
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg) rs375159973 0.00002
NM_001267550.2(TTN):c.107377+1G>A rs112188483 0.00002
NM_001267550.2(TTN):c.29962+1G>T rs774961188 0.00002
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter) rs1179247052 0.00002
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776 0.00002
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter) rs1064793560 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.106954C>T (p.Arg35652Ter) rs565675340 0.00001
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter) rs1009131948 0.00001
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154 0.00001
NM_001267550.2(TTN):c.14093-1G>A rs869312099 0.00001
NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter) rs372277017 0.00001
NM_001267550.2(TTN):c.16054G>A (p.Asp5352Asn) rs1190242728 0.00001
NM_001267550.2(TTN):c.160G>A (p.Val54Met) rs139517732 0.00001
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) rs772235481 0.00001
NM_001267550.2(TTN):c.22930C>T (p.Arg7644Ter) rs1340940049 0.00001
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) rs878854299 0.00001
NM_001267550.2(TTN):c.35828dup (p.Glu11945Argfs) rs765879488 0.00001
NM_001267550.2(TTN):c.38876-2A>C rs1185989004 0.00001
NM_001267550.2(TTN):c.43600C>T (p.Gln14534Ter) rs727504499 0.00001
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_001267550.2(TTN):c.44816-1G>A rs749705939 0.00001
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter) rs727505350 0.00001
NM_001267550.2(TTN):c.47494C>T (p.Arg15832Ter) rs751746401 0.00001
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter) rs374140736 0.00001
NM_001267550.2(TTN):c.49870C>T (p.Arg16624Ter) rs1471414348 0.00001
NM_001267550.2(TTN):c.50170C>T (p.Arg16724Ter) rs794729265 0.00001
NM_001267550.2(TTN):c.51436+1G>A rs761807131 0.00001
NM_001267550.2(TTN):c.52009C>T (p.Arg17337Ter) rs1343120755 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.56806C>T (p.Arg18936Ter) rs72646828 0.00001
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275 0.00001
NM_001267550.2(TTN):c.60733C>T (p.Arg20245Ter) rs1057522256 0.00001
NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter) rs878854324 0.00001
NM_001267550.2(TTN):c.66160+2T>C rs753146898 0.00001
NM_001267550.2(TTN):c.67349-2A>C rs753948675 0.00001
NM_001267550.2(TTN):c.68885_68888dup (p.Ile22964fs) rs757603460 0.00001
NM_001267550.2(TTN):c.72669del (p.Asp24224fs) rs727504531 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.80716C>T (p.Arg26906Ter) rs727505284 0.00001
NM_001267550.2(TTN):c.83416C>T (p.Arg27806Ter) rs886055237 0.00001
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) rs770038577 0.00001
NM_001267550.2(TTN):c.86335C>T (p.Arg28779Ter) rs1060500525 0.00001
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter) rs776065839 0.00001
NM_001267550.2(TTN):c.89220_89221insT (p.Ile29741fs) rs1064794472 0.00001
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter) rs794729301 0.00001
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter) rs146572907 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_001267550.2(TTN):c.98506C>T (p.Arg32836Ter) rs869312085 0.00001
NC_000002.11:g.(?_179392363)_(179408795_?)del
NC_000002.12:g.178552644_178552645del rs773840992
NM_001267550.2(TTN):c.100389C>A (p.Tyr33463Ter)
NM_001267550.2(TTN):c.100446dup (p.Glu33483fs) rs878854281
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter) rs1057518195
NM_001267550.2(TTN):c.10115-1G>A rs2088245783
NM_001267550.2(TTN):c.101789del (p.Leu33930fs) rs1575285509
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter) rs752697861
NM_001267550.2(TTN):c.103354C>T (p.Gln34452Ter)
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.103737_103738insCA (p.Met34580fs) rs2154134687
NM_001267550.2(TTN):c.103749del (p.Lys34583fs) rs1689787372
NM_001267550.2(TTN):c.104269C>T (p.Gln34757Ter) rs2154134221
NM_001267550.2(TTN):c.104509_104510del (p.Leu34837fs)
NM_001267550.2(TTN):c.104849C>A (p.Ser34950Ter)
NM_001267550.2(TTN):c.104974_104995dup (p.Leu34999fs) rs2154133662
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter) rs534484592
NM_001267550.2(TTN):c.106358G>A (p.Trp35453Ter) rs922408768
NM_001267550.2(TTN):c.106375-2A>G rs1553482872
NM_001267550.2(TTN):c.106531+1G>A rs760915007
NM_001267550.2(TTN):c.106531G>A (p.Ala35511Thr) rs768786354
NM_001267550.2(TTN):c.106541del (p.Asp35514fs) rs2154131647
NM_001267550.2(TTN):c.106629del (p.Ala35544fs) rs869312069
NM_001267550.2(TTN):c.107163_107167del (p.Phe35721fs) rs794727544
NM_001267550.2(TTN):c.107224-1G>C rs112720067
NM_001267550.2(TTN):c.107351C>G (p.Ser35784Ter) rs1575185742
NM_001267550.2(TTN):c.107377+1G>C rs112188483
NM_001267550.2(TTN):c.107647del (p.Ser35883fs) rs281864932
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys) rs281864927
NM_001267550.2(TTN):c.107788T>C (p.Trp35930Arg) rs1018591024
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn) rs281864928
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro) rs267607156
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter) rs281864929
NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis) rs281864933
NM_001267550.2(TTN):c.11497_11515del (p.Met3833fs) rs2154319069
NM_001267550.2(TTN):c.12208G>T (p.Glu4070Ter) rs397517830
NM_001267550.2(TTN):c.12319del (p.Leu4107fs) rs2154318463
NM_001267550.2(TTN):c.12870dup (p.Val4291fs) rs869025556
NM_001267550.2(TTN):c.13108C>T (p.Gln4370Ter) rs267607158
NM_001267550.2(TTN):c.13760del (p.Glu4587fs) rs1266489077
NM_001267550.2(TTN):c.14372-2A>C rs747942388
NM_001267550.2(TTN):c.14372-2A>G
NM_001267550.2(TTN):c.1507C>T (p.Gln503Ter)
NM_001267550.2(TTN):c.15496+1G>A rs397517481
NM_001267550.2(TTN):c.15496+1G>T rs397517481
NM_001267550.2(TTN):c.1771C>T (p.Gln591Ter) rs747286444
NM_001267550.2(TTN):c.19156C>T (p.Gln6386Ter) rs1578126437
NM_001267550.2(TTN):c.19426+2T>A rs727505178
NM_001267550.2(TTN):c.2093del (p.Lys698fs) rs2154351778
NM_001267550.2(TTN):c.2099_2106dup (p.Ala703delinsLysLeuTer) rs2093158866
NM_001267550.2(TTN):c.22027C>T (p.Gln7343Ter) rs886043434
NM_001267550.2(TTN):c.22145_22146del (p.Val7381_Phe7382insTer) rs794727888
NM_001267550.2(TTN):c.2219G>T (p.Arg740Leu) rs28933405
NM_001267550.2(TTN):c.2228C>T (p.Ala743Val) rs267607157
NM_001267550.2(TTN):c.22973C>A (p.Ser7658Ter)
NM_001267550.2(TTN):c.23204G>A (p.Trp7735Ter)
NM_001267550.2(TTN):c.2370+2T>C rs1574817395
NM_001267550.2(TTN):c.25063+1G>A rs754247415
NM_001267550.2(TTN):c.25480C>T (p.Arg8494Ter) rs794727945
NM_001267550.2(TTN):c.26287G>T (p.Glu8763Ter) rs2077159790
NM_001267550.2(TTN):c.26482G>T (p.Glu8828Ter) rs778206438
NM_001267550.2(TTN):c.2663_2669delinsCTTCAC (p.Asp888fs) rs2093000714
NM_001267550.2(TTN):c.26764C>T (p.Arg8922Ter) rs1250796004
NM_001267550.2(TTN):c.27513del (p.Pro9172fs) rs794729378
NM_001267550.2(TTN):c.28561C>T (p.Gln9521Ter)
NM_001267550.2(TTN):c.29094_29095del (p.Phe9700fs) rs1553882262
NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg) rs267607155
NM_001267550.2(TTN):c.29621_29624del (p.Glu9874fs) rs777924443
NM_001267550.2(TTN):c.29963-1G>C rs1560513651
NM_001267550.2(TTN):c.3073dup (p.Ser1025fs) rs2154350008
NM_001267550.2(TTN):c.31708_31711del (p.Glu10570fs)
NM_001267550.2(TTN):c.31846+1G>A rs794727043
NM_001267550.2(TTN):c.32312-1G>A rs2070649864
NM_001267550.2(TTN):c.32312-1G>C rs2070649864
NM_001267550.2(TTN):c.3344G>A (p.Trp1115Ter) rs2154349662
NM_001267550.2(TTN):c.33826+1G>A rs1389908421
NM_001267550.2(TTN):c.34253_34277del (p.Leu11418fs) rs1373610867
NM_001267550.2(TTN):c.34922del (p.Pro11641fs) rs1553809971
NM_001267550.2(TTN):c.35041G>T (p.Glu11681Ter) rs557526069
NM_001267550.2(TTN):c.35154dup (p.Val11719fs) rs2067087661
NM_001267550.2(TTN):c.35678_35685delinsA (p.Thr11893fs) rs2066169270
NM_001267550.2(TTN):c.35713+1G>A rs2066160245
NM_001267550.2(TTN):c.35713+2T>A rs774814237
NM_001267550.2(TTN):c.35756del (p.Pro11919fs) rs1241310204
NM_001267550.2(TTN):c.36203-1G>T
NM_001267550.2(TTN):c.38424del (p.Lys12809fs) rs1553775991
NM_001267550.2(TTN):c.38442dup (p.Pro12815fs) rs752101551
NM_001267550.2(TTN):c.38661_38665del (p.Lys12887fs) rs1553775212
NM_001267550.2(TTN):c.38809del (p.Glu12937fs)
NM_001267550.2(TTN):c.39109G>T (p.Glu13037Ter)
NM_001267550.2(TTN):c.40091dup (p.Glu13365fs)
NM_001267550.2(TTN):c.40238dup (p.Tyr13414fs) rs2154244761
NM_001267550.2(TTN):c.40409-2A>C rs1560046529
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.40652del (p.Pro13551fs)
NM_001267550.2(TTN):c.41118del (p.Phe13706fs) rs878854305
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter) rs869312043
NM_001267550.2(TTN):c.41608+1G>T rs2154230056
NM_001267550.2(TTN):c.42205C>T (p.Arg14069Ter) rs2060187635
NM_001267550.2(TTN):c.42315_42318del (p.Lys14105fs) rs878854371
NM_001267550.2(TTN):c.42445_42446insTTT (p.Glu14149delinsValTer) rs2060125843
NM_001267550.2(TTN):c.42521G>A (p.Trp14174Ter)
NM_001267550.2(TTN):c.43431C>G (p.Tyr14477Ter) rs1559955466
NM_001267550.2(TTN):c.43693C>T (p.Gln14565Ter)
NM_001267550.2(TTN):c.44035C>T (p.Arg14679Ter) rs776970935
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.44281+1G>T
NM_001267550.2(TTN):c.44281+2T>C
NM_001267550.2(TTN):c.44815+1G>A rs1274007753
NM_001267550.2(TTN):c.45724A>T (p.Arg15242Ter)
NM_001267550.2(TTN):c.45896-2A>C
NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter) rs368200299
NM_001267550.2(TTN):c.46272C>A (p.Tyr15424Ter) rs879139686
NM_001267550.2(TTN):c.46455del (p.Pro15486fs) rs2154210615
NM_001267550.2(TTN):c.46603C>T (p.Arg15535Ter) rs764654357
NM_001267550.2(TTN):c.47137_47138del (p.Ser15713fs) rs886039125
NM_001267550.2(TTN):c.47314C>T (p.Arg15772Ter) rs2154209202
NM_001267550.2(TTN):c.47692C>T (p.Arg15898Ter) rs775186117
NM_001267550.2(TTN):c.47961del (p.Gly15988fs) rs1553707780
NM_001267550.2(TTN):c.49669A>T (p.Lys16557Ter) rs2154200779
NM_001267550.2(TTN):c.49948+1G>C
NM_001267550.2(TTN):c.49948+2T>G
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) rs751502842
NM_001267550.2(TTN):c.50296C>T (p.Arg16766Ter) rs754866489
NM_001267550.2(TTN):c.50375_50378del (p.Glu16792fs)
NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter) rs587780490
NM_001267550.2(TTN):c.50657_50660dup (p.Tyr16887Ter) rs2056330918
NM_001267550.2(TTN):c.51244dup (p.Tyr17082fs) rs1576402791
NM_001267550.2(TTN):c.51436+1G>T rs761807131
NM_001267550.2(TTN):c.51436+2T>C
NM_001267550.2(TTN):c.52307_52310dup (p.Glu17437delinsAspTer) rs794729323
NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter) rs1131691381
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter) rs727503607
NM_001267550.2(TTN):c.54000G>A (p.Trp18000Ter) rs72646813
NM_001267550.2(TTN):c.54067C>T (p.Arg18023Ter) rs1553682168
NM_001267550.2(TTN):c.54112del (p.Glu18038fs) rs794729325
NM_001267550.2(TTN):c.54190+1G>A rs756339648
NM_001267550.2(TTN):c.54190+1G>T
NM_001267550.2(TTN):c.54406_54409del (p.Gln18136fs)
NM_001267550.2(TTN):c.54809del (p.Ile18270fs) rs2154194604
NM_001267550.2(TTN):c.5513del (p.Lys1838fs) rs1554007001
NM_001267550.2(TTN):c.55351C>T (p.Arg18451Ter) rs1440093502
NM_001267550.2(TTN):c.56153G>A (p.Trp18718Ter) rs1477101279
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.57545-2A>G
NM_001267550.2(TTN):c.57718C>T (p.Arg19240Ter) rs2051361827
NM_001267550.2(TTN):c.58240_58244del (p.Pro19414fs) rs2154187022
NM_001267550.2(TTN):c.58270G>T (p.Glu19424Ter) rs72646837
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter) rs1553649171
NM_001267550.2(TTN):c.60307A>T (p.Arg20103Ter) rs1553644307
NM_001267550.2(TTN):c.60579G>A (p.Trp20193Ter) rs2050116026
NM_001267550.2(TTN):c.6061C>T (p.Arg2021Ter)
NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter) rs869312055
NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter) rs869312112
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter) rs794729278
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter) rs757231565
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter) rs543860009
NM_001267550.2(TTN):c.63010G>T (p.Glu21004Ter) rs769345390
NM_001267550.2(TTN):c.63049_63050dup (p.Ile21018fs) rs1559561666
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.6377G>A (p.Trp2126Ter)
NM_001267550.2(TTN):c.6378G>A (p.Trp2126Ter) rs754781119
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter) rs1553636324
NM_001267550.2(TTN):c.64249_64253dup (p.Tyr21418Ter) rs794729329
NM_001267550.2(TTN):c.64252_64253insGAGTA (p.Tyr21418Ter)
NM_001267550.2(TTN):c.64397-2del
NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter) rs768345594
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter) rs794729280
NM_001267550.2(TTN):c.6564dup (p.Asp2189fs)
NM_001267550.2(TTN):c.6570dup (p.Met2191fs) rs2092066056
NM_001267550.2(TTN):c.65863+1G>A rs2154178615
NM_001267550.2(TTN):c.66628C>T (p.Gln22210Ter) rs757047748
NM_001267550.2(TTN):c.66769+2T>A rs1060500483
NM_001267550.2(TTN):c.669+1G>A rs1574982376
NM_001267550.2(TTN):c.67174C>T (p.Gln22392Ter) rs2154176072
NM_001267550.2(TTN):c.67279C>T (p.Arg22427Ter) rs1200988060
NM_001267550.2(TTN):c.67348C>T (p.Gln22450Ter) rs1403485272
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter) rs371678190
NM_001267550.2(TTN):c.68463_68466dup (p.Leu22823fs)
NM_001267550.2(TTN):c.69214del (p.Ile23072fs)
NM_001267550.2(TTN):c.69553C>T (p.Arg23185Ter) rs878854328
NM_001267550.2(TTN):c.70876G>T (p.Glu23626Ter) rs1559446852
NM_001267550.2(TTN):c.70978C>T (p.Arg23660Ter) rs1553612386
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.72826dup (p.Thr24276fs) rs971618751
NM_001267550.2(TTN):c.72828_72831dup (p.Thr24278fs) rs751319893
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter) rs794729285
NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer) rs1064796390
NM_001267550.2(TTN):c.74444del (p.Pro24815fs)
NM_001267550.2(TTN):c.7501C>T (p.Arg2501Ter) rs781459488
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs) rs794729340
NM_001267550.2(TTN):c.75435G>A (p.Trp25145Ter)
NM_001267550.2(TTN):c.75469C>T (p.Arg25157Ter) rs1553603394
NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter) rs1553603152
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs) rs1553603036
NM_001267550.2(TTN):c.75663del (p.Lys25221fs) rs1131691542
NM_001267550.2(TTN):c.7599del (p.Ile2535fs) rs2091811840
NM_001267550.2(TTN):c.76179_76180insAACTTAGTGAACCAAGCCCTCCT (p.Ser25394fs) rs878854335
NM_001267550.2(TTN):c.7639del (p.Thr2547fs) rs1060500400
NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter) rs767450912
NM_001267550.2(TTN):c.77100dup (p.Pro25701fs) rs794729343
NM_001267550.2(TTN):c.77120_77121del (p.Val25707fs)
NM_001267550.2(TTN):c.77404_77405insA (p.Pro25802fs)
NM_001267550.2(TTN):c.77646del (p.Ile25883fs) rs2154167034
NM_001267550.2(TTN):c.78095_78098del (p.Arg26032fs) rs869312117
NM_001267550.2(TTN):c.78855_78858del (p.Arg26286fs) rs794729346
NM_001267550.2(TTN):c.78991C>T (p.Arg26331Ter) rs779996703
NM_001267550.2(TTN):c.79096A>T (p.Lys26366Ter)
NM_001267550.2(TTN):c.79294C>T (p.Arg26432Ter) rs774411587
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter) rs869025545
NM_001267550.2(TTN):c.79750G>T (p.Glu26584Ter)
NM_001267550.2(TTN):c.80380C>T (p.Gln26794Ter) rs2154165062
NM_001267550.2(TTN):c.80584del (p.Ser26862fs) rs794729348
NM_001267550.2(TTN):c.80623_85481del (p.Asp26875fs)
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter) rs869038795
NM_001267550.2(TTN):c.81274C>T (p.Gln27092Ter) rs2154163535
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) rs557312035
NM_001267550.2(TTN):c.81723T>A (p.Tyr27241Ter) rs769821404
NM_001267550.2(TTN):c.81942del (p.Glu27315fs)
NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter) rs886042331
NM_001267550.2(TTN):c.82548G>A (p.Trp27516Ter) rs1559321340
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.83515C>T (p.Arg27839Ter) rs869312118
NM_001267550.2(TTN):c.83821G>T (p.Glu27941Ter)
NM_001267550.2(TTN):c.83861dup (p.Ile27955fs)
NM_001267550.2(TTN):c.83971C>T (p.Gln27991Ter) rs1703920233
NM_001267550.2(TTN):c.84819G>A (p.Trp28273Ter) rs72648222
NM_001267550.2(TTN):c.85008_85011del (p.Glu28338fs) rs869312100
NM_001267550.2(TTN):c.85011_85014del (p.Glu28338fs) rs2154159327
NM_001267550.2(TTN):c.85464_88084del2621 (p.Glu28489fs)
NM_001267550.2(TTN):c.85768C>T (p.Arg28590Ter) rs748689777
NM_001267550.2(TTN):c.85969A>T (p.Lys28657Ter) rs72648224
NM_001267550.2(TTN):c.86076dup (p.Ser28693fs) rs1285329277
NM_001267550.2(TTN):c.86116C>T (p.Arg28706Ter) rs794729384
NM_001267550.2(TTN):c.86168del (p.Phe28723fs)
NM_001267550.2(TTN):c.86363G>A (p.Trp28788Ter) rs1064793814
NM_001267550.2(TTN):c.86387_86391del (p.Arg28796fs) rs794729354
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001267550.2(TTN):c.86821+1G>A rs1702741860
NM_001267550.2(TTN):c.86821+1G>T
NM_001267550.2(TTN):c.86889del (p.Trp28963fs) rs1559268818
NM_001267550.2(TTN):c.87355del (p.Ala29119fs) rs794729356
NM_001267550.2(TTN):c.87559G>T (p.Glu29187Ter) rs1060500586
NM_001267550.2(TTN):c.87624C>A (p.Tyr29208Ter) rs772121356
NM_001267550.2(TTN):c.87624C>G (p.Tyr29208Ter)
NM_001267550.2(TTN):c.88462dup (p.Cys29488fs) rs2154153413
NM_001267550.2(TTN):c.88594+1G>T rs794727467
NM_001267550.2(TTN):c.88594+2T>G rs1057520744
NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter) rs886038916
NM_001267550.2(TTN):c.89197+2T>G rs1575536935
NM_001267550.2(TTN):c.9163+1G>C rs1060500549
NM_001267550.2(TTN):c.91920G>A (p.Trp30640Ter) rs1698600051
NM_001267550.2(TTN):c.92001G>A (p.Trp30667Ter)
NM_001267550.2(TTN):c.92631dup (p.Lys30878fs) rs886039145
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter) rs869312065
NM_001267550.2(TTN):c.92812dup (p.Arg30938fs) rs1559173391
NM_001267550.2(TTN):c.92877G>A (p.Trp30959Ter) rs2154147664
NM_001267550.2(TTN):c.93088del (p.Arg31030fs) rs2154147488
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.94103_94107del (p.Ile31368fs) rs769488730
NM_001267550.2(TTN):c.94127dup (p.Tyr31376Ter)
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs) rs727503547
NM_001267550.2(TTN):c.94182_94183insAGCAGCT (p.Leu31395fs) rs1219954334
NM_001267550.2(TTN):c.94344_94347del (p.Lys31448fs) rs727503546
NM_001267550.2(TTN):c.9472-1G>C
NM_001267550.2(TTN):c.9472-1G>T
NM_001267550.2(TTN):c.94754T>G (p.Leu31585Ter) rs2154146081
NM_001267550.2(TTN):c.94816C>T (p.Arg31606Ter) rs1060500435
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg) rs869320739
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) rs869320740
NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg) rs869320741
NM_001267550.2(TTN):c.95186G>T (p.Trp31729Leu) rs786205367
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys) rs869320742
NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter) rs780414947
NM_001267550.2(TTN):c.95351C>T (p.Ala31784Val) rs1553520967
NM_001267550.2(TTN):c.95358C>G (p.Asn31786Lys) rs869320743
NM_001267550.2(TTN):c.95370_95387del (p.Gly31791_Ser31796del)
NM_001267550.2(TTN):c.95372G>A (p.Gly31791Asp) rs869320744
NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter) rs746115846
NM_001267550.2(TTN):c.97114dup (p.Arg32372fs) rs1064793419
NM_001267550.2(TTN):c.97492+1G>A rs727505319
NM_001267550.2(TTN):c.97492+1G>C rs727505319
NM_001267550.2(TTN):c.97492+1G>T rs727505319
NM_001267550.2(TTN):c.97560G>A (p.Trp32520Ter) rs1694489284
NM_001267550.2(TTN):c.97972C>T (p.Arg32658Ter)
NM_001267550.2(TTN):c.98603del (p.Phe32868fs)
NM_001267550.2(TTN):c.98633dup (p.Ser32879fs)
NM_001267550.2(TTN):c.98994del (p.Lys32998fs) rs727504535
NM_001267550.2(TTN):c.99184_99185dup (p.Leu33063fs) rs794729396
NM_003319.4(TTN):c.43495_43496dup (p.Thr14500fs) rs2154172276
TTN:c.106668delA (p.Lys35556Argfs) rs587776772

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