ClinVar Miner

List of variants in gene TTN reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 274
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HGVS dbSNP
NM_001256850.1(TTN):c.39893-1G>A rs749705939
NM_001256850.1(TTN):c.44423-1G>A rs869312070
NM_001256850.1(TTN):c.44423-2A>T rs794729263
NM_001256850.1(TTN):c.81898+2T>A rs397517735
NM_001256850.1(TTN):c.92569+1G>C rs727505319
NM_001267550.1(TTN):c.106154A>C rs768296130
NM_001267550.1(TTN):c.45599C>G rs201057307
NM_001267550.1(TTN):c.62722C>T rs543860009
NM_001267550.2(TTN):c.100446dup (p.Glu33483fs) rs878854281
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter) rs1057518195
NM_001267550.2(TTN):c.101019_101020dup (p.Arg33674fs) rs886041287
NM_001267550.2(TTN):c.101098delinsCT (p.Asp33700fs) rs794729367
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg) rs375159973
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter) rs752697861
NM_001267550.2(TTN):c.105486del (p.Trp35162fs) rs1553485330
NM_001267550.2(TTN):c.105528_105535del (p.Gln35176fs) rs199469665
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter) rs886043924
NM_001267550.2(TTN):c.106137dup (p.Lys35380Ter) rs886044460
NM_001267550.2(TTN):c.106375-2A>G rs1553482872
NM_001267550.2(TTN):c.107377+1G>A rs112188483
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154
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.107837A>C (p.His35946Pro) rs281864931
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.13108C>T (p.Gln4370Ter) rs267607158
NM_001267550.2(TTN):c.14339G>A (p.Ser4780Asn) rs147879266
NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter) rs372277017
NM_001267550.2(TTN):c.160G>A (p.Val54Met) rs139517732
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) rs772235481
NM_001267550.2(TTN):c.20836+1G>A rs1553915256
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.23903_23904delinsA (p.Gly7968fs) rs797046060
NM_001267550.2(TTN):c.29092_29093CT[1] (p.Phe9700fs) rs1553882262
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter) rs746721983
NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg) rs267607155
NM_001267550.2(TTN):c.29619_29620AG[1] (p.Glu9874fs)
NM_001267550.2(TTN):c.29963-1G>C rs1560513651
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.42482_42485TTGT[1] (p.Cys14163fs) rs797046064
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter) rs727505350
NM_001267550.2(TTN):c.45316_45320dup (p.Arg15108fs) rs794729390
NM_001267550.2(TTN):c.47479C>T (p.Gln15827Ter) rs794729261
NM_001267550.2(TTN):c.47494C>T (p.Arg15832Ter) rs751746401
NM_001267550.2(TTN):c.47961del (p.Gly15988fs) rs1553707780
NM_001267550.2(TTN):c.48015_48016del (p.Asp16007fs) rs794729319
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter) rs374140736
NM_001267550.2(TTN):c.48306G>A (p.Trp16102Ter) rs771672410
NM_001267550.2(TTN):c.48379_48382del (p.Phe16127fs) rs1064796347
NM_001267550.2(TTN):c.49100C>A (p.Ser16367Ter) rs794729262
NM_001267550.2(TTN):c.49413G>A (p.Trp16471Ter) rs202094100
NM_001267550.2(TTN):c.49648+2del rs727504851
NM_001267550.2(TTN):c.49958C>G (p.Ser16653Ter) rs746669146
NM_001267550.2(TTN):c.50048T>A (p.Ile16683Asn) rs1057520148
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) rs751502842
NM_001267550.2(TTN):c.50170C>T (p.Arg16724Ter) rs794729265
NM_001267550.2(TTN):c.50428_50431dup (p.Phe16811Ter) rs794729322
NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter) rs587780490
NM_001267550.2(TTN):c.50821G>T (p.Glu16941Ter) rs794729267
NM_001267550.2(TTN):c.50860A>T (p.Lys16954Ter) rs794729268
NM_001267550.2(TTN):c.51127A>T (p.Lys17043Ter) rs794729269
NM_001267550.2(TTN):c.51244dup (p.Tyr17082fs)
NM_001267550.2(TTN):c.51581G>A (p.Trp17194Ter) rs1553692290
NM_001267550.2(TTN):c.51654C>G (p.Tyr17218Ter) rs1131691655
NM_001267550.2(TTN):c.51739+1G>C rs727504799
NM_001267550.2(TTN):c.51821C>A (p.Ser17274Ter) rs794729270
NM_001267550.2(TTN):c.51833_51848del (p.Thr17278fs) rs794729391
NM_001267550.2(TTN):c.52307_52310dup (p.Glu17437delinsAspTer) rs794729323
NM_001267550.2(TTN):c.52473G>A (p.Trp17491Ter) rs794729271
NM_001267550.2(TTN):c.52550_52554dup (p.Val17519fs) rs1553688405
NM_001267550.2(TTN):c.52729_52730AG[1] (p.Arg17577fs) rs878854315
NM_001267550.2(TTN):c.52857C>A (p.Cys17619Ter) rs1057520724
NM_001267550.2(TTN):c.53355G>A (p.Trp17785Ter) rs794729273
NM_001267550.2(TTN):c.53393del (p.Gly17798fs) rs794729324
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.53984del (p.Met17995fs) rs1553682326
NM_001267550.2(TTN):c.54112del (p.Glu18038fs) rs794729325
NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter) rs768431507
NM_001267550.2(TTN):c.55324del (p.Ser18442fs) rs794729326
NM_001267550.2(TTN):c.55460_55461del (p.Lys18487fs) rs1064796230
NM_001267550.2(TTN):c.56853del (p.Gly18952fs) rs794729392
NM_001267550.2(TTN):c.56935_56957delinsAACCT (p.Asp18979_Pro18986delinsAsnLeu) rs794729327
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.57847+1G>C rs397517631
NM_001267550.2(TTN):c.58270G>T (p.Glu19424Ter) rs72646837
NM_001267550.2(TTN):c.58567_58568dup (p.Lys19524fs) rs1553650442
NM_001267550.2(TTN):c.59205del (p.Glu19735fs) rs397517643
NM_001267550.2(TTN):c.59353G>T (p.Glu19785Ter) rs794729276
NM_001267550.2(TTN):c.59402del (p.Gly19801fs) rs1064793367
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter) rs1559598775
NM_001267550.2(TTN):c.59926+1G>A
NM_001267550.2(TTN):c.59977G>T (p.Glu19993Ter) rs1085307825
NM_001267550.2(TTN):c.60121C>T (p.Gln20041Ter) rs794729277
NM_001267550.2(TTN):c.60733C>T (p.Arg20245Ter) rs1057522256
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter) rs727503586
NM_001267550.2(TTN):c.63025C>T (p.Arg21009Ter) rs368452607
NM_001267550.2(TTN):c.63164dup (p.Val21056fs) rs1553639073
NM_001267550.2(TTN):c.63203del (p.Pro21068fs) rs794729328
NM_001267550.2(TTN):c.63625C>T (p.Arg21209Ter) rs794729279
NM_001267550.2(TTN):c.64249_64253dup (p.Tyr21418Ter) rs794729329
NM_001267550.2(TTN):c.64680dup (p.Gly21561fs) rs794729330
NM_001267550.2(TTN):c.64688dup (p.Gln21564fs) rs774395395
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter) rs794729280
NM_001267550.2(TTN):c.65531del (p.Pro21844fs) rs794729331
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494
NM_001267550.2(TTN):c.66769+2T>A rs1060500483
NM_001267550.2(TTN):c.67058-1G>C rs756715989
NM_001267550.2(TTN):c.67272C>A (p.Tyr22424Ter) rs747377194
NM_001267550.2(TTN):c.67415G>A (p.Trp22472Ter) rs1559491398
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter) rs371678190
NM_001267550.2(TTN):c.68498C>G (p.Ser22833Ter) rs876658077
NM_001267550.2(TTN):c.68508dup (p.Val22837fs) rs1064793845
NM_001267550.2(TTN):c.68885_68888dup (p.Ile22964fs) rs757603460
NM_001267550.2(TTN):c.68923_68924insT (p.Pro22975fs) rs1553617407
NM_001267550.2(TTN):c.69211_69214delinsTCT (p.Pro23071fs) rs886039741
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.69655dup (p.Arg23219fs) rs794729334
NM_001267550.2(TTN):c.69716-1G>T rs794729282
NM_001267550.2(TTN):c.69880del (p.Thr23294fs) rs1553614987
NM_001267550.2(TTN):c.70000del (p.Glu23334fs) rs1131691811
NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter) rs781540455
NM_001267550.2(TTN):c.70714C>T (p.Gln23572Ter) rs1559449398
NM_001267550.2(TTN):c.70832del (p.Ala23611fs) rs794729335
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.71202dup (p.Lys23735fs) rs1553611989
NM_001267550.2(TTN):c.71321G>A (p.Trp23774Ter) rs727503567
NM_001267550.2(TTN):c.71563G>T (p.Gly23855Ter) rs794729381
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.71639del (p.Ala23879_Leu23880insTer) rs794729337
NM_001267550.2(TTN):c.71980_71986delinsTA (p.Ala23994_Glu23996delinsTer) rs794729338
NM_001267550.2(TTN):c.72347del (p.Asn24116fs) rs1553609675
NM_001267550.2(TTN):c.72663del (p.Pro24223fs)
NM_001267550.2(TTN):c.72669del (p.Asp24224fs) rs727504531
NM_001267550.2(TTN):c.72826_72829dup (p.Leu24277fs) rs1553608700
NM_001267550.2(TTN):c.72826del (p.Thr24276fs) rs971618751
NM_001267550.2(TTN):c.72848_72849del (p.Lys24283fs) rs794729339
NM_001267550.2(TTN):c.72956_72963del (p.Asp24319fs) rs1064793876
NM_001267550.2(TTN):c.73184dup (p.Tyr24395Ter) rs1553607935
NM_001267550.2(TTN):c.73443C>A (p.Tyr24481Ter) rs1057523460
NM_001267550.2(TTN):c.73504G>T (p.Glu24502Ter) rs1131691543
NM_001267550.2(TTN):c.73846C>T (p.Arg24616Ter) rs794729284
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter) rs794729285
NM_001267550.2(TTN):c.74567G>A (p.Trp24856Ter) rs1057518851
NM_001267550.2(TTN):c.74608del (p.Ala24870fs) rs878854332
NM_001267550.2(TTN):c.75134_75137AGAA[1] (p.Lys25046fs) rs794729340
NM_001267550.2(TTN):c.75250C>T (p.Arg25084Ter) rs794729286
NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter) rs794729382
NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter) rs1553603152
NM_001267550.2(TTN):c.75663del (p.Lys25221fs) rs1131691542
NM_001267550.2(TTN):c.76115dup (p.Asn25372fs) rs774604740
NM_001267550.2(TTN):c.76157_76158delinsAGGG (p.Gly25386fs) rs794729341
NM_001267550.2(TTN):c.76179_76180insAACTTAGTGAACCAAGCCCTCCT (p.Ser25394fs) rs878854335
NM_001267550.2(TTN):c.76278G>A (p.Trp25426Ter) rs1064794060
NM_001267550.2(TTN):c.76373del (p.Pro25458fs) rs869025553
NM_001267550.2(TTN):c.76397_76398del (p.Ile25466fs) rs794729342
NM_001267550.2(TTN):c.76865G>A (p.Trp25622Ter) rs756552975
NM_001267550.2(TTN):c.76904dup (p.Asn25635fs) rs1553601017
NM_001267550.2(TTN):c.77100dup (p.Pro25701fs) rs794729343
NM_001267550.2(TTN):c.77177del (p.Gly25726fs) rs794729344
NM_001267550.2(TTN):c.77437C>T (p.Gln25813Ter) rs794729287
NM_001267550.2(TTN):c.77646_77662delinsAGA (p.Ile25883fs) rs794729345
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter) rs794729289
NM_001267550.2(TTN):c.78404G>A (p.Trp26135Ter) rs1064793668
NM_001267550.2(TTN):c.78749del (p.Leu26250fs) rs1064793285
NM_001267550.2(TTN):c.78851_78854TAGA[1] (p.Arg26286fs) rs794729346
NM_001267550.2(TTN):c.78947dup (p.Ser26317fs) rs1553592841
NM_001267550.2(TTN):c.79603C>T (p.Gln26535Ter) rs1064793911
NM_001267550.2(TTN):c.79793T>G (p.Leu26598Ter) rs1064794023
NM_001267550.2(TTN):c.79806_79809del (p.Ile26602fs) rs794729347
NM_001267550.2(TTN):c.80365_80432del (p.Leu26789fs) rs1553583549
NM_001267550.2(TTN):c.80584del (p.Ser26862fs) rs794729348
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter) rs727505284
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter) rs869038795
NM_001267550.2(TTN):c.81202del (p.Tyr27068fs) rs794729394
NM_001267550.2(TTN):c.81243_81261del (p.Thr27082fs) rs749610641
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) rs557312035
NM_001267550.2(TTN):c.81337G>T (p.Glu27113Ter) rs794729292
NM_001267550.2(TTN):c.81341dup (p.Asn27115fs)
NM_001267550.2(TTN):c.81724G>T (p.Glu27242Ter)
NM_001267550.2(TTN):c.81878_81879del (p.Phe27293fs) rs727504660
NM_001267550.2(TTN):c.81964A>T (p.Arg27322Ter) rs794729293
NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter) rs886042331
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.82658del (p.Gly27553fs) rs794729349
NM_001267550.2(TTN):c.82716_82717delinsA (p.Pro27574fs) rs794729350
NM_001267550.2(TTN):c.83064_83073del (p.Ala27689fs) rs794729351
NM_001267550.2(TTN):c.83104C>T (p.Arg27702Ter) rs1559314812
NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter) rs869312118
NM_001267550.2(TTN):c.83542dup (p.Ile27848fs) rs1553568528
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032
NM_001267550.2(TTN):c.84041C>G (p.Ser28014Ter) rs1057524838
NM_001267550.2(TTN):c.84365del (p.Gly28122fs) rs750146750
NM_001267550.2(TTN):c.84819G>A (p.Trp28273Ter)
NM_001267550.2(TTN):c.84897G>A (p.Trp28299Ter) rs794729296
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) rs770038577
NM_001267550.2(TTN):c.85295del (p.Leu28432fs)
NM_001267550.2(TTN):c.85544T>G (p.Leu28515Ter) rs886041441
NM_001267550.2(TTN):c.86076dup (p.Ser28693fs) rs1285329277
NM_001267550.2(TTN):c.86116C>T (p.Arg28706Ter) rs794729384
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.86437G>T (p.Glu28813Ter) rs868494032
NM_001267550.2(TTN):c.86474T>G (p.Leu28825Ter) rs794729297
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter) rs776065839
NM_001267550.2(TTN):c.87236C>G (p.Ser29079Ter) rs1057520580
NM_001267550.2(TTN):c.87355del (p.Ala29119fs) rs794729356
NM_001267550.2(TTN):c.87418_87419delinsTGTTATTAGTGATATATCTAA (p.Pro29140delinsCysTyrTer) rs794729357
NM_001267550.2(TTN):c.87559G>T (p.Glu29187Ter) rs1060500586
NM_001267550.2(TTN):c.87751C>T (p.Arg29251Ter) rs794729299
NM_001267550.2(TTN):c.87820del (p.Leu29274fs) rs794729358
NM_001267550.2(TTN):c.88703_88704del (p.His29568fs) rs794729360
NM_001267550.2(TTN):c.88837A>T (p.Lys29613Ter) rs794729300
NM_001267550.2(TTN):c.89006dup (p.Leu29670fs) rs794729361
NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter) rs886038916
NM_001267550.2(TTN):c.89270del (p.Lys29757fs) rs794729362
NM_001267550.2(TTN):c.89280T>A (p.Tyr29760Ter) rs794729385
NM_001267550.2(TTN):c.90255_90256del (p.Thr30085_Cys30086insTer) rs773840992
NM_001267550.2(TTN):c.90393del (p.Asp30132fs) rs886041865
NM_001267550.2(TTN):c.90697C>T (p.Arg30233Ter) rs1553539391
NM_001267550.2(TTN):c.90706G>T (p.Glu30236Ter) rs974510652
NM_001267550.2(TTN):c.91839dup (p.Val30614fs) rs730880365
NM_001267550.2(TTN):c.91875del (p.Pro30626fs) rs757451467
NM_001267550.2(TTN):c.92279_92283AAAAG[3] (p.Ser30763fs) rs756367933
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter) rs794729301
NM_001267550.2(TTN):c.92631dup (p.Lys30878fs) rs886039145
NM_001267550.2(TTN):c.92812dup (p.Arg30938fs) rs1559173391
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer) rs886044536
NM_001267550.2(TTN):c.93897del (p.Phe31299fs) rs397517758
NM_001267550.2(TTN):c.94103_94107del (p.Ile31368fs) rs769488730
NM_001267550.2(TTN):c.94162A>T (p.Arg31388Ter) rs794729302
NM_001267550.2(TTN):c.94178_94179delinsC (p.Lys31393fs) rs1064793622
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs) rs727503547
NM_001267550.2(TTN):c.95008C>T (p.Arg31670Ter) rs1322596650
NM_001267550.2(TTN):c.95082dup (p.Gly31695fs) rs1064793888
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.95195C>T (p.Pro31732Leu) rs753334568
NM_001267550.2(TTN):c.95358C>G (p.Asn31786Lys) rs869320743
NM_001267550.2(TTN):c.95372G>A (p.Gly31791Asp) rs869320744
NM_001267550.2(TTN):c.95770del (p.His31924fs) rs794729364
NM_001267550.2(TTN):c.96310+2T>G rs794729303
NM_001267550.2(TTN):c.96697C>T (p.Arg32233Ter) rs781171206
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs) rs794729365
NM_001267550.2(TTN):c.97523_97527del (p.Ile32508fs) rs794729395
NM_001267550.2(TTN):c.97532_97534delinsA (p.Val32511fs) rs794729366
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776
NM_001267550.2(TTN):c.98989+1G>A rs112240298
NM_001267550.2(TTN):c.98994del (p.Lys32998fs) rs727504535
NM_001267550.2(TTN):c.99184_99185dup (p.Leu33063fs) rs794729396
NM_001267550.2(TTN):c.99712C>T (p.Gln33238Ter) rs1131691383
NM_133378.4(TTN):c.10361-1G>A rs869312099
NM_133378.4(TTN):c.30709+1G>A rs577363824
NM_133378.4(TTN):c.47728+5G>C rs754717390
NM_133379.5(TTN):c.9163+1G>C rs1060500549
TTN, 2-BP INS, 43628AT
TTN:c.106668delA (p.Lys35556Argfs) rs587776772

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