ClinVar Miner

List of variants reported as likely pathogenic for Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 805
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HGVS dbSNP
NC_000002.11:g.(?_179404280_179552552del
NC_000002.11:g.(?_179423747_179424505del
NC_000002.11:g.(?_179424791_179429241del
NC_000002.12:g.(?_178528254)_(178544135_?)del
NM_001256850.1(TTN):c.44423-1G>A rs869312070
NM_001267550.1(TTN):c.62722C>T rs543860009
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.100135G>T (p.Glu33379Ter)
NM_001267550.2(TTN):c.100325del (p.Val33442fs)
NM_001267550.2(TTN):c.100390G>T (p.Glu33464Ter) rs374920916
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter) rs1064793560
NM_001267550.2(TTN):c.100766-2A>T
NM_001267550.2(TTN):c.100791_100792insGTGTACCTAAA (p.Thr33598fs)
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter) rs1057518195
NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter) rs1260821931
NM_001267550.2(TTN):c.100947del (p.Phe33650fs)
NM_001267550.2(TTN):c.101027del (p.Gly33676fs)
NM_001267550.2(TTN):c.101094_101097del (p.Ser33699fs)
NM_001267550.2(TTN):c.101098_101099insT (p.Asp33700fs) rs869312122
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter) rs766265889
NM_001267550.2(TTN):c.101208G>A (p.Trp33736Ter)
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter) rs794729305
NM_001267550.2(TTN):c.101230del (p.Glu33744fs) rs1575293252
NM_001267550.2(TTN):c.101440del (p.Glu33814fs)
NM_001267550.2(TTN):c.101567del (p.Asp33856fs)
NM_001267550.2(TTN):c.101627dup (p.Leu33876fs)
NM_001267550.2(TTN):c.101687C>A (p.Ser33896Ter)
NM_001267550.2(TTN):c.101728G>T (p.Glu33910Ter) rs943777958
NM_001267550.2(TTN):c.101920del (p.Leu33974fs)
NM_001267550.2(TTN):c.101996G>A (p.Trp33999Ter) rs869312068
NM_001267550.2(TTN):c.102057del (p.Asn34020fs)
NM_001267550.2(TTN):c.102061C>T (p.Gln34021Ter) rs1060500471
NM_001267550.2(TTN):c.102234_102237del (p.Arg34079fs)
NM_001267550.2(TTN):c.102269_102270dup (p.Arg34091fs)
NM_001267550.2(TTN):c.102300del (p.Asp34101fs)
NM_001267550.2(TTN):c.102630_102645dup (p.Gly34216delinsSerSerGlnTer)
NM_001267550.2(TTN):c.102718_102719del (p.Thr34240fs) rs1559031280
NM_001267550.2(TTN):c.102744del (p.Asp34249fs)
NM_001267550.2(TTN):c.102916A>T (p.Lys34306Ter) rs1575269011
NM_001267550.2(TTN):c.102937_102940dup (p.Gly34314fs)
NM_001267550.2(TTN):c.103061del (p.Pro34354fs)
NM_001267550.2(TTN):c.103073_103076dup (p.Ser34359delinsArgTer)
NM_001267550.2(TTN):c.103096_103097insSVAelement rs1575266261
NM_001267550.2(TTN):c.103155_103156del (p.Arg34385fs) rs1575265345
NM_001267550.2(TTN):c.103189del (p.Glu34397fs)
NM_001267550.2(TTN):c.103336del (p.Ser34446fs) rs1553491793
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)
NM_001267550.2(TTN):c.103518del (p.Ala34507fs) rs1553491220
NM_001267550.2(TTN):c.103705A>T (p.Lys34569Ter) rs1553490574
NM_001267550.2(TTN):c.103758_103759del (p.Arg34586fs)
NM_001267550.2(TTN):c.103765C>T (p.Gln34589Ter)
NM_001267550.2(TTN):c.103771C>T (p.Arg34591Ter)
NM_001267550.2(TTN):c.103938_103939del (p.Phe34646fs)
NM_001267550.2(TTN):c.103943del (p.Tyr34648fs)
NM_001267550.2(TTN):c.103945C>T (p.Arg34649Ter) rs995029896
NM_001267550.2(TTN):c.104069del (p.Gly34690fs)
NM_001267550.2(TTN):c.104171_104172del (p.Lys34724fs)
NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter) rs750519430
NM_001267550.2(TTN):c.104515C>T (p.Arg34839Ter) rs1553488049
NM_001267550.2(TTN):c.104653C>T (p.Arg34885Ter) rs1057518003
NM_001267550.2(TTN):c.104666_104667del (p.Pro34889fs)
NM_001267550.2(TTN):c.104699_104726delinsT (p.Glu34900_Ser34909delinsVal)
NM_001267550.2(TTN):c.104771C>A (p.Ser34924Ter) rs1559003939
NM_001267550.2(TTN):c.104827C>T (p.Arg34943Ter)
NM_001267550.2(TTN):c.104861_104876del (p.Pro34954fs)
NM_001267550.2(TTN):c.105485G>A (p.Trp35162Ter) rs886042795
NM_001267550.2(TTN):c.105614del (p.Asn35205fs)
NM_001267550.2(TTN):c.105791dup (p.Ser35265fs)
NM_001267550.2(TTN):c.105805del (p.Thr35269fs) rs752787097
NM_001267550.2(TTN):c.105935T>G (p.Leu35312Ter) rs779948923
NM_001267550.2(TTN):c.106015del (p.Asp35339fs) rs1558988204
NM_001267550.2(TTN):c.106049del (p.Thr35350fs) rs1250336644
NM_001267550.2(TTN):c.106114_106115dup (p.Leu35372fs) rs1394131775
NM_001267550.2(TTN):c.106279C>T (p.Gln35427Ter)
NM_001267550.2(TTN):c.106358G>A (p.Trp35453Ter)
NM_001267550.2(TTN):c.106531+1G>A rs760915007
NM_001267550.2(TTN):c.106740del (p.Ala35581fs)
NM_001267550.2(TTN):c.106768dup (p.His35590fs)
NM_001267550.2(TTN):c.107202_107203del (p.Trp35735fs) rs1575189496
NM_001267550.2(TTN):c.107219dup (p.Pro35741fs)
NM_001267550.2(TTN):c.107223+1G>A rs876658102
NM_001267550.2(TTN):c.107284C>T (p.Arg35762Ter) rs1477669354
NM_001267550.2(TTN):c.107460_107463dup (p.Gln35822fs) rs886042246
NM_001267550.2(TTN):c.107628del (p.Asn35876fs) rs766624923
NM_001267550.2(TTN):c.107644del (p.Ser35882fs) rs1179955071
NM_001267550.2(TTN):c.107789G>A (p.Trp35930Ter)
NM_001267550.2(TTN):c.107800G>T (p.Gly35934Ter) rs368277535
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro) rs267607156
NM_001267550.2(TTN):c.15496+1G>T rs397517481
NM_001267550.2(TTN):c.46843dup (p.Thr15615fs) rs1553712292
NM_001267550.2(TTN):c.46986dup (p.Asn15663Ter)
NM_001267550.2(TTN):c.47040del (p.Glu15680fs)
NM_001267550.2(TTN):c.47137_47138del (p.Ser15713fs) rs886039125
NM_001267550.2(TTN):c.47142_47143del (p.Cys15714_Glu15715delinsTer)
NM_001267550.2(TTN):c.47143_47146dup (p.Phe15716Ter)
NM_001267550.2(TTN):c.47269+2T>C rs1060500419
NM_001267550.2(TTN):c.47314C>T (p.Arg15772Ter)
NM_001267550.2(TTN):c.47487C>A (p.Tyr15829Ter)
NM_001267550.2(TTN):c.47576_47577delGA rs1060500489
NM_001267550.2(TTN):c.47629C>T (p.Gln15877Ter) rs886044009
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.47797A>T (p.Arg15933Ter)
NM_001267550.2(TTN):c.47894T>A (p.Leu15965Ter) rs878982457
NM_001267550.2(TTN):c.48167del (p.Pro16056fs)
NM_001267550.2(TTN):c.48227_48229delinsAAA (p.Trp16076_Glu16077delinsTer) rs1553706971
NM_001267550.2(TTN):c.48312+2T>C
NM_001267550.2(TTN):c.48369dup (p.Glu16124fs) rs1553705557
NM_001267550.2(TTN):c.48461-2A>C rs1553705079
NM_001267550.2(TTN):c.48499C>T (p.Arg16167Ter)
NM_001267550.2(TTN):c.48542dup (p.Asn16181fs) rs1576472316
NM_001267550.2(TTN):c.48629del (p.Ala16210fs)
NM_001267550.2(TTN):c.48634del (p.Thr16212fs)
NM_001267550.2(TTN):c.48698dup (p.Asn16233fs)
NM_001267550.2(TTN):c.48759del (p.Glu16254fs)
NM_001267550.2(TTN):c.49004dup (p.Asn16335fs) rs1576461647
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.49296_49315del (p.Val16433fs) rs727504825
NM_001267550.2(TTN):c.49345+2T>C rs1559805633
NM_001267550.2(TTN):c.49346-2A>T rs794729263
NM_001267550.2(TTN):c.49413G>A (p.Trp16471Ter) rs202094100
NM_001267550.2(TTN):c.49749dup (p.Glu16584Ter)
NM_001267550.2(TTN):c.49758T>G (p.Tyr16586Ter)
NM_001267550.2(TTN):c.49870C>T (p.Arg16624Ter) rs1471414348
NM_001267550.2(TTN):c.49874_49877dup (p.Arg16626delinsSerTer)
NM_001267550.2(TTN):c.49948+2_49948+10del
NM_001267550.2(TTN):c.49970G>A (p.Trp16657Ter)
NM_001267550.2(TTN):c.50016G>A (p.Trp16672Ter)
NM_001267550.2(TTN):c.50074_50075del (p.Asp16692fs) rs1060500513
NM_001267550.2(TTN):c.50095C>T (p.Gln16699Ter)
NM_001267550.2(TTN):c.50316G>A (p.Trp16772Ter)
NM_001267550.2(TTN):c.50358T>A (p.Tyr16786Ter)
NM_001267550.2(TTN):c.50657_50660dup (p.Tyr16887Ter)
NM_001267550.2(TTN):c.50857+1G>A
NM_001267550.2(TTN):c.50860A>T (p.Lys16954Ter) rs794729268
NM_001267550.2(TTN):c.50914_50918del (p.Leu16972fs)
NM_001267550.2(TTN):c.51037G>T (p.Glu17013Ter) rs1060500500
NM_001267550.2(TTN):c.51136+1del
NM_001267550.2(TTN):c.51229_51230del (p.Thr17077fs)
NM_001267550.2(TTN):c.51234_51237dup (p.Leu17080fs) rs1553693444
NM_001267550.2(TTN):c.51436+1G>A rs761807131
NM_001267550.2(TTN):c.51436+1G>T rs761807131
NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter) rs906494713
NM_001267550.2(TTN):c.51449del (p.Pro17150fs)
NM_001267550.2(TTN):c.51525del (p.Ser17177fs) rs1553692435
NM_001267550.2(TTN):c.51576_51577del (p.Arg17193fs)
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)
NM_001267550.2(TTN):c.51834_51838dup (p.Thr17280fs)
NM_001267550.2(TTN):c.51843G>A (p.Trp17281Ter) rs1559759828
NM_001267550.2(TTN):c.51870del (p.Glu17291fs) rs1553691320
NM_001267550.2(TTN):c.51958C>T (p.Gln17320Ter)
NM_001267550.2(TTN):c.51986_51987del (p.Lys17329fs) rs1195974666
NM_001267550.2(TTN):c.52009C>T (p.Arg17337Ter) rs1343120755
NM_001267550.2(TTN):c.52021C>T (p.Arg17341Ter) rs926741242
NM_001267550.2(TTN):c.52063_52064insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATNNNNNNNNNNNNGAAAATGACC (p.His17355_Gly17356insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspXaaXaaXaaXaaGluAsnAsp)
NM_001267550.2(TTN):c.52077A>T (p.Lys17359Asn)
NM_001267550.2(TTN):c.52077del (p.Ala17360fs)
NM_001267550.2(TTN):c.52150dup (p.Thr17384fs)
NM_001267550.2(TTN):c.52226_52227del (p.Lys17409fs)
NM_001267550.2(TTN):c.52233_52237del (p.Lys17413fs)
NM_001267550.2(TTN):c.52406-2A>C rs753798236
NM_001267550.2(TTN):c.52512C>G (p.Tyr17504Ter) rs1559748120
NM_001267550.2(TTN):c.52576_52603del (p.Asn17525_Ala17526insTer) rs1064792915
NM_001267550.2(TTN):c.52706-1G>C
NM_001267550.2(TTN):c.52731_52732del (p.Arg17577fs) rs878854315
NM_001267550.2(TTN):c.52736del (p.Thr17579fs)
NM_001267550.2(TTN):c.52801del (p.Ile17601fs)
NM_001267550.2(TTN):c.52825del (p.Gln17609fs)
NM_001267550.2(TTN):c.52924_52930dup (p.Val17644fs)
NM_001267550.2(TTN):c.53047C>T (p.Gln17683Ter)
NM_001267550.2(TTN):c.53068_53069del (p.Thr17689_Leu17690insTer)
NM_001267550.2(TTN):c.53206C>T (p.Arg17736Ter)
NM_001267550.2(TTN):c.53259del (p.Lys17753fs) rs1389777522
NM_001267550.2(TTN):c.53287+1G>A rs1064794266
NM_001267550.2(TTN):c.53359del (p.Asp17787fs)
NM_001267550.2(TTN):c.53374G>T (p.Gly17792Ter)
NM_001267550.2(TTN):c.53393del (p.Gly17798fs) rs794729324
NM_001267550.2(TTN):c.53582-1G>A
NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter) rs1131691381
NM_001267550.2(TTN):c.53703dup (p.Arg17902fs) rs1576340321
NM_001267550.2(TTN):c.53743C>T (p.Arg17915Ter) rs753333359
NM_001267550.2(TTN):c.53770del (p.Val17924fs) rs1559723763
NM_001267550.2(TTN):c.53824G>T (p.Glu17942Ter)
NM_001267550.2(TTN):c.53848dup (p.Leu17950fs) rs1553682760
NM_001267550.2(TTN):c.54000G>A (p.Trp18000Ter)
NM_001267550.2(TTN):c.54112del (p.Glu18038fs) rs794729325
NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter) rs768431507
NM_001267550.2(TTN):c.54190+1G>A rs756339648
NM_001267550.2(TTN):c.54314_54381+139delinsATAAGG rs1576327348
NM_001267550.2(TTN):c.54320dup (p.Ser18108fs)
NM_001267550.2(TTN):c.54378T>A (p.Tyr18126Ter)
NM_001267550.2(TTN):c.54387G>A (p.Trp18129Ter) rs1576323463
NM_001267550.2(TTN):c.54418C>T (p.Arg18140Ter) rs747236787
NM_001267550.2(TTN):c.54481C>T (p.Gln18161Ter)
NM_001267550.2(TTN):c.54560G>A (p.Trp18187Ter) rs794729274
NM_001267550.2(TTN):c.54620_54624del (p.Glu18207fs)
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter) rs727503602
NM_001267550.2(TTN):c.54793del (p.Val18265fs)
NM_001267550.2(TTN):c.54809dup (p.Phe18271fs) rs1553679072
NM_001267550.2(TTN):c.54811+1G>A
NM_001267550.2(TTN):c.54812-1G>T rs1416873295
NM_001267550.2(TTN):c.54957G>A (p.Trp18319Ter)
NM_001267550.2(TTN):c.55036A>T (p.Arg18346Ter)
NM_001267550.2(TTN):c.55117C>T (p.Gln18373Ter)
NM_001267550.2(TTN):c.55121-1G>A rs1576297857
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.55235G>A (p.Trp18412Ter)
NM_001267550.2(TTN):c.55351C>T (p.Arg18451Ter)
NM_001267550.2(TTN):c.55432+1G>A
NM_001267550.2(TTN):c.55460_55461del (p.Lys18487fs) rs1064796230
NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter) rs1483931960
NM_001267550.2(TTN):c.55734T>A (p.Tyr18578Ter)
NM_001267550.2(TTN):c.55796C>A (p.Ser18599Ter)
NM_001267550.2(TTN):c.55884_55887del (p.Glu18629fs)
NM_001267550.2(TTN):c.55972C>T (p.Arg18658Ter) rs764985774
NM_001267550.2(TTN):c.56051-1G>A
NM_001267550.2(TTN):c.56089G>T (p.Glu18697Ter)
NM_001267550.2(TTN):c.56153G>A (p.Trp18718Ter) rs1477101279
NM_001267550.2(TTN):c.56257C>T (p.Gln18753Ter) rs1559669986
NM_001267550.2(TTN):c.56347+1G>A rs1576251664
NM_001267550.2(TTN):c.56348-1G>A
NM_001267550.2(TTN):c.56564_56576del (p.Tyr18855fs) rs1294679653
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter)
NM_001267550.2(TTN):c.56598del (p.Ile18867fs) rs1553664644
NM_001267550.2(TTN):c.56645del (p.Phe18882fs)
NM_001267550.2(TTN):c.56647+1G>A rs397517624
NM_001267550.2(TTN):c.56648-1G>A rs769912484
NM_001267550.2(TTN):c.56732dup (p.Asp18911fs) rs397517626
NM_001267550.2(TTN):c.56741del (p.Ser18914fs) rs1553663867
NM_001267550.2(TTN):c.56783C>A (p.Ser18928Ter) rs1576240126
NM_001267550.2(TTN):c.56792G>A (p.Trp18931Ter) rs1060500526
NM_001267550.2(TTN):c.57008C>A (p.Ser19003Ter) rs878854318
NM_001267550.2(TTN):c.57030del (p.Pro19012fs)
NM_001267550.2(TTN):c.57035dup (p.Leu19013fs) rs1553662457
NM_001267550.2(TTN):c.57057del (p.Lys19019_Val19020insTer) rs1553662326
NM_001267550.2(TTN):c.57111_57111+9del rs1553661994
NM_001267550.2(TTN):c.57112-1G>A
NM_001267550.2(TTN):c.57112-1G>C
NM_001267550.2(TTN):c.57127del (p.Glu19042_Val19043insTer)
NM_001267550.2(TTN):c.57250A>T (p.Lys19084Ter)
NM_001267550.2(TTN):c.57363del (p.Pro19122fs)
NM_001267550.2(TTN):c.57388G>T (p.Glu19130Ter) rs1553659628
NM_001267550.2(TTN):c.57544+1G>A
NM_001267550.2(TTN):c.57558del (p.Val19187fs) rs1576186406
NM_001267550.2(TTN):c.57603C>A (p.Cys19201Ter)
NM_001267550.2(TTN):c.57718C>T (p.Arg19240Ter)
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275
NM_001267550.2(TTN):c.57897del (p.Asn19299fs)
NM_001267550.2(TTN):c.58195C>T (p.Arg19399Ter) rs768073446
NM_001267550.2(TTN):c.58208del (p.Ala19403fs)
NM_001267550.2(TTN):c.58258del (p.Trp19420fs)
NM_001267550.2(TTN):c.58259G>A (p.Trp19420Ter) rs869025544
NM_001267550.2(TTN):c.58388del (p.Asn19463fs)
NM_001267550.2(TTN):c.58432+2T>C
NM_001267550.2(TTN):c.58545T>A (p.Tyr19515Ter)
NM_001267550.2(TTN):c.58568del (p.Gly19523fs) rs1553650442
NM_001267550.2(TTN):c.58620del (p.Val19541fs) rs1576147786
NM_001267550.2(TTN):c.58850del (p.Lys19617fs)
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)
NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs) rs752948913
NM_001267550.2(TTN):c.59205del (p.Glu19735fs) rs397517643
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs) rs886039027
NM_001267550.2(TTN):c.59411dup (p.Arg19805fs) rs755261062
NM_001267550.2(TTN):c.59531_59570dup (p.Leu19857delinsPheSerTer) rs1064792914
NM_001267550.2(TTN):c.59570_59571insTTTTTTTTTTNNNNNNNNNNCAGATGGAAATGCAGAAATCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCCCGGAATTTATTCTTT (p.Leu19857fs)
NM_001267550.2(TTN):c.59598_59599dup (p.Thr19867fs)
NM_001267550.2(TTN):c.59647_59648del (p.Asp19883fs) rs878854322
NM_001267550.2(TTN):c.59693G>A (p.Trp19898Ter) rs974671846
NM_001267550.2(TTN):c.59763del (p.Ser19921fs) rs1559599859
NM_001267550.2(TTN):c.59841C>A (p.Tyr19947Ter)
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter) rs1559598775
NM_001267550.2(TTN):c.59906_59924delinsAA (p.Ile19969fs)
NM_001267550.2(TTN):c.59917del (p.Asp19973fs)
NM_001267550.2(TTN):c.59994G>A (p.Trp19998Ter)
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.60307A>T (p.Arg20103Ter) rs1553644307
NM_001267550.2(TTN):c.60447T>G (p.Tyr20149Ter) rs1553644047
NM_001267550.2(TTN):c.60581del (p.Gln20194fs) rs1559589139
NM_001267550.2(TTN):c.60621del (p.Asn20206_Tyr20207insTer) rs1060500442
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter) rs797044692
NM_001267550.2(TTN):c.60760del (p.Val20254fs)
NM_001267550.2(TTN):c.60831del (p.Lys20277fs)
NM_001267550.2(TTN):c.60853dup (p.Glu20285fs)
NM_001267550.2(TTN):c.60865dup (p.Thr20289fs) rs1553643260
NM_001267550.2(TTN):c.61269del (p.Asp20424fs) rs1060500420
NM_001267550.2(TTN):c.61297del (p.Arg20433fs)
NM_001267550.2(TTN):c.61324G>T (p.Glu20442Ter) rs751412533
NM_001267550.2(TTN):c.61369G>T (p.Glu20457Ter)
NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter) rs869312112
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter)
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.61830dup (p.Pro20611fs)
NM_001267550.2(TTN):c.61847G>A (p.Trp20616Ter) rs1576077909
NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter) rs878854324
NM_001267550.2(TTN):c.62128_63102delinsGA (p.Lys20710fs)
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter) rs727503586
NM_001267550.2(TTN):c.62337_62340del (p.Thr20780fs)
NM_001267550.2(TTN):c.62424del (p.Asp20808fs)
NM_001267550.2(TTN):c.62597del (p.Gly20866fs) rs1576066084
NM_001267550.2(TTN):c.62655G>A (p.Trp20885Ter)
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs) rs876657666
NM_001267550.2(TTN):c.63010G>T (p.Glu21004Ter)
NM_001267550.2(TTN):c.63025C>T (p.Arg21009Ter) rs368452607
NM_001267550.2(TTN):c.63255G>A (p.Trp21085Ter) rs1553638539
NM_001267550.2(TTN):c.63367dup (p.Ala21123fs)
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)
NM_001267550.2(TTN):c.63722delinsAA (p.Ser21241Ter)
NM_001267550.2(TTN):c.63794-1G>A
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter) rs1553636324
NM_001267550.2(TTN):c.64094-1G>C
NM_001267550.2(TTN):c.64216A>T (p.Arg21406Ter)
NM_001267550.2(TTN):c.64222G>T (p.Glu21408Ter) rs1576015923
NM_001267550.2(TTN):c.64287del (p.Gly21430fs)
NM_001267550.2(TTN):c.64297del (p.Glu21433fs) rs1576014780
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.64427_64428dup (p.Thr21477Ter) rs1559536156
NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter) rs768345594
NM_001267550.2(TTN):c.64577dup (p.Asp21528fs)
NM_001267550.2(TTN):c.64583_64592dup (p.Lys21532_Asp21533insCysAspTer)
NM_001267550.2(TTN):c.64672+1G>A
NM_001267550.2(TTN):c.64688del (p.Pro21563fs) rs774395395
NM_001267550.2(TTN):c.64688dup (p.Gln21564fs) rs774395395
NM_001267550.2(TTN):c.64742G>A (p.Trp21581Ter) rs1057523344
NM_001267550.2(TTN):c.64843dup (p.Thr21615fs)
NM_001267550.2(TTN):c.64915C>T (p.Arg21639Ter) rs1432889079
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter) rs794729280
NM_001267550.2(TTN):c.65437C>T (p.Gln21813Ter)
NM_001267550.2(TTN):c.65505del (p.Ile21835fs) rs1559521007
NM_001267550.2(TTN):c.65531del (p.Pro21844fs) rs794729331
NM_001267550.2(TTN):c.65657_65658del (p.Thr21886fs)
NM_001267550.2(TTN):c.65661_65677del (p.Phe21888fs)
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.66008G>A (p.Trp22003Ter)
NM_001267550.2(TTN):c.66039del (p.Ser22014fs) rs1553628052
NM_001267550.2(TTN):c.66059_66060insAT (p.Ile22021fs)
NM_001267550.2(TTN):c.66079C>T (p.Gln22027Ter)
NM_001267550.2(TTN):c.66160+1G>T
NM_001267550.2(TTN):c.66160+2T>C rs753146898
NM_001267550.2(TTN):c.66161-1G>C rs1553627403
NM_001267550.2(TTN):c.66239_66242dup (p.Asp22082fs)
NM_001267550.2(TTN):c.66319del (p.Arg22107fs)
NM_001267550.2(TTN):c.66464-2A>G rs1575921187
NM_001267550.2(TTN):c.66710del (p.Lys22237fs) rs1060500479
NM_001267550.2(TTN):c.66770-2A>C rs1553624468
NM_001267550.2(TTN):c.66793dup (p.Ala22265fs)
NM_001267550.2(TTN):c.66941_66944dup (p.Phe22315fs)
NM_001267550.2(TTN):c.66968del (p.Asn22323fs)
NM_001267550.2(TTN):c.67070_67071insTGTGACTGTATCCAGATAC (p.Pro22358fs)
NM_001267550.2(TTN):c.67081dup (p.Val22361fs)
NM_001267550.2(TTN):c.67115_67116del (p.Tyr22372fs)
NM_001267550.2(TTN):c.67166_67167del (p.Tyr22389fs) rs1476017129
NM_001267550.2(TTN):c.67279C>T (p.Arg22427Ter) rs1200988060
NM_001267550.2(TTN):c.67397C>A (p.Ser22466Ter)
NM_001267550.2(TTN):c.67421del (p.Lys22474fs)
NM_001267550.2(TTN):c.67446del (p.Ile22483fs)
NM_001267550.2(TTN):c.67576G>T (p.Glu22526Ter)
NM_001267550.2(TTN):c.67590_67591insCTCCATGGGCTCTTCTCTTGCTTTGAAAACTCCCCCTTTTCCCCTCTCCCTCTCCCTCTCCCTCTCCCCCTACCCCTCCCCCTCCCCCTCTCCCTCTNNNNNNNNNNAAAAACAAAAAAAAAAAAAAGAATGAAAATGGA (p.Glu22531fs)
NM_001267550.2(TTN):c.67705_67706insLINE1
NM_001267550.2(TTN):c.67897G>T (p.Glu22633Ter) rs1553621179
NM_001267550.2(TTN):c.68108_68109del (p.Thr22702_Phe22703insTer)
NM_001267550.2(TTN):c.68242_68243dup (p.Pro22749fs) rs1085307600
NM_001267550.2(TTN):c.68325dup (p.Thr22776fs) rs1575853060
NM_001267550.2(TTN):c.68349_68356del (p.Glu22784fs)
NM_001267550.2(TTN):c.68508dup (p.Val22837fs) rs1064793845
NM_001267550.2(TTN):c.68527+1G>C
NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter) rs1213930919
NM_001267550.2(TTN):c.68664G>A (p.Trp22888Ter)
NM_001267550.2(TTN):c.68807_68810dup (p.Lys22938fs)
NM_001267550.2(TTN):c.68859_68862dup (p.Gly22955fs)
NM_001267550.2(TTN):c.68875A>T (p.Lys22959Ter)
NM_001267550.2(TTN):c.68876_68883del (p.Lys22959fs) rs1575832346
NM_001267550.2(TTN):c.68885_68888dup (p.Ile22964fs) rs757603460
NM_001267550.2(TTN):c.68941del (p.Trp22981fs) rs1575831755
NM_001267550.2(TTN):c.68943G>A (p.Trp22981Ter) rs1553617378
NM_001267550.2(TTN):c.69131del (p.Pro23044fs)
NM_001267550.2(TTN):c.69234_69238del (p.Lys23079fs)
NM_001267550.2(TTN):c.69241_69242del (p.Glu23081fs) rs1575826940
NM_001267550.2(TTN):c.69256_69257dup (p.Leu23086fs) rs1553616622
NM_001267550.2(TTN):c.69340del (p.Val23114fs)
NM_001267550.2(TTN):c.69420del (p.Gly23141fs)
NM_001267550.2(TTN):c.69421_69422insAAAAG (p.Gly23141fs)
NM_001267550.2(TTN):c.69422_69426delinsAAAAGGACCC (p.Gly23141fs)
NM_001267550.2(TTN):c.69479G>A (p.Trp23160Ter)
NM_001267550.2(TTN):c.69491_69492del (p.Val23164fs) rs869312113
NM_001267550.2(TTN):c.69521_69525dup (p.Val23176fs)
NM_001267550.2(TTN):c.69553C>T (p.Arg23185Ter) rs878854328
NM_001267550.2(TTN):c.69558G>A (p.Trp23186Ter) rs1575821175
NM_001267550.2(TTN):c.69923_69926dup (p.Lys23309delinsAsnTer)
NM_001267550.2(TTN):c.69937_69938insGAAAAATACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTANNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAA (p.Asn23313delinsArgLysIleGlnAlaGlyArgGlyGlySerArgLeuTer)
NM_001267550.2(TTN):c.70051C>T (p.Arg23351Ter) rs1060500575
NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter) rs781540455
NM_001267550.2(TTN):c.70215dup (p.Asn23406Ter) rs1553614378
NM_001267550.2(TTN):c.70491del (p.Gly23498fs)
NM_001267550.2(TTN):c.70571_70572dup (p.Glu23525fs)
NM_001267550.2(TTN):c.70629_70632dup (p.Thr23545fs)
NM_001267550.2(TTN):c.70745dup (p.Thr23583fs) rs1559448864
NM_001267550.2(TTN):c.70814_70815insTT (p.Val23605_Met23606insTer)
NM_001267550.2(TTN):c.70879C>T (p.Gln23627Ter) rs1575799625
NM_001267550.2(TTN):c.70897dup (p.Leu23633fs)
NM_001267550.2(TTN):c.70922_70923delinsG (p.Lys23641fs)
NM_001267550.2(TTN):c.70936A>T (p.Lys23646Ter)
NM_001267550.2(TTN):c.70957del (p.Val23653fs)
NM_001267550.2(TTN):c.71002A>T (p.Lys23668Ter) rs1553612321
NM_001267550.2(TTN):c.71024_71027del (p.Lys23675fs)
NM_001267550.2(TTN):c.71035_71038del (p.Arg23679fs) rs1575797171
NM_001267550.2(TTN):c.71045_71046del (p.Asn23681_Phe23682insTer)
NM_001267550.2(TTN):c.71126_71127delinsA (p.Arg23709fs)
NM_001267550.2(TTN):c.71242del (p.Trp23748fs) rs1060500514
NM_001267550.2(TTN):c.71351_71352insGGTA (p.Thr23785fs)
NM_001267550.2(TTN):c.71378_71385del (p.Thr23793fs)
NM_001267550.2(TTN):c.71542_71564dup (p.Ser23856fs)
NM_001267550.2(TTN):c.71634del (p.Ala23879fs) rs727503565
NM_001267550.2(TTN):c.71685_71686insAAATA (p.Ala23896delinsLysTer)
NM_001267550.2(TTN):c.72339_72340del (p.Ile24114fs) rs1559429489
NM_001267550.2(TTN):c.72433_72434insGA (p.Phe24145Ter)
NM_001267550.2(TTN):c.72542dup (p.Leu24182fs)
NM_001267550.2(TTN):c.72613del (p.Val24205fs)
NM_001267550.2(TTN):c.72730G>T (p.Gly24244Ter)
NM_001267550.2(TTN):c.72826dup (p.Thr24276fs) rs971618751
NM_001267550.2(TTN):c.72828_72831dup (p.Thr24278fs) rs751319893
NM_001267550.2(TTN):c.72873del (p.His24291fs) rs1575772360
NM_001267550.2(TTN):c.72945C>G (p.Tyr24315Ter)
NM_001267550.2(TTN):c.72963_72964del (p.Val24321_Phe24322insTer)
NM_001267550.2(TTN):c.73046_73047del (p.Ile24348_Tyr24349insTer)
NM_001267550.2(TTN):c.73075_73076dup (p.Met24359fs) rs1575769723
NM_001267550.2(TTN):c.73105_73115del (p.Glu24369fs)
NM_001267550.2(TTN):c.73244del (p.Gly24415fs)
NM_001267550.2(TTN):c.73285G>T (p.Glu24429Ter)
NM_001267550.2(TTN):c.73324_73325del (p.Ala24442fs)
NM_001267550.2(TTN):c.73347del (p.Phe24449fs)
NM_001267550.2(TTN):c.73411_73414del (p.Asp24471fs)
NM_001267550.2(TTN):c.73426G>T (p.Glu24476Ter)
NM_001267550.2(TTN):c.73557_73558dup (p.Pro24520fs) rs1559415816
NM_001267550.2(TTN):c.73568del (p.Pro24523fs) rs1559415567
NM_001267550.2(TTN):c.73581_73585del (p.Val24528fs)
NM_001267550.2(TTN):c.73792G>T (p.Glu24598Ter)
NM_001267550.2(TTN):c.73845del (p.Glu24615fs) rs397517696
NM_001267550.2(TTN):c.73846C>T (p.Arg24616Ter) rs794729284
NM_001267550.2(TTN):c.73911G>A (p.Trp24637Ter)
NM_001267550.2(TTN):c.74041C>T (p.Gln24681Ter) rs1575756767
NM_001267550.2(TTN):c.74099_74124del (p.Pro24700fs)
NM_001267550.2(TTN):c.74358del (p.His24785_Tyr24786insTer)
NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer) rs1064796390
NM_001267550.2(TTN):c.74490G>A (p.Trp24830Ter)
NM_001267550.2(TTN):c.74532del (p.Asn24843_Tyr24844insTer)
NM_001267550.2(TTN):c.74536del (p.Val24846fs) rs1553605154
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)
NM_001267550.2(TTN):c.74716_74719del (p.Phe24906fs)
NM_001267550.2(TTN):c.74848del (p.Arg24950fs)
NM_001267550.2(TTN):c.74987_74991dup (p.Ser24998fs) rs1553604316
NM_001267550.2(TTN):c.74995_74996del (p.Glu24999fs)
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs) rs794729340
NM_001267550.2(TTN):c.75148G>T (p.Glu25050Ter)
NM_001267550.2(TTN):c.75231T>A (p.Tyr25077Ter)
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.75354del (p.Asp25119fs) rs1559394355
NM_001267550.2(TTN):c.75386dup (p.Lys25130fs)
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs) rs1553603036
NM_001267550.2(TTN):c.75663del (p.Lys25221fs) rs1131691542
NM_001267550.2(TTN):c.75974G>A (p.Trp25325Ter) rs1553602546
NM_001267550.2(TTN):c.75984_75985insTACCA (p.Ala25329fs)
NM_001267550.2(TTN):c.76115dup (p.Asn25372fs) rs774604740
NM_001267550.2(TTN):c.76226del (p.Pro25409fs)
NM_001267550.2(TTN):c.76240dup (p.Val25414fs)
NM_001267550.2(TTN):c.76332dup (p.Cys25445fs)
NM_001267550.2(TTN):c.76356G>A (p.Trp25452Ter)
NM_001267550.2(TTN):c.76393_76396del (p.Thr25464_Asn25465insTer) rs727504483
NM_001267550.2(TTN):c.76446_76447del (p.Ala25483fs)
NM_001267550.2(TTN):c.76507del (p.Glu25503fs)
NM_001267550.2(TTN):c.76540del (p.Asp25513_Leu25514insTer) rs1559382080
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter) rs545954490
NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter) rs767450912
NM_001267550.2(TTN):c.76722T>A (p.Tyr25574Ter)
NM_001267550.2(TTN):c.76737T>A (p.Tyr25579Ter)
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)
NM_001267550.2(TTN):c.77014dup (p.Tyr25672fs)
NM_001267550.2(TTN):c.77100dup (p.Pro25701fs) rs794729343
NM_001267550.2(TTN):c.77145dup (p.Ser25716fs) rs1205409465
NM_001267550.2(TTN):c.77147_77150del (p.Val25715_Ser25716insTer) rs1466647934
NM_001267550.2(TTN):c.77157G>A (p.Trp25719Ter)
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)
NM_001267550.2(TTN):c.77326G>T (p.Glu25776Ter) rs1553600058
NM_001267550.2(TTN):c.77610del (p.Thr25871fs)
NM_001267550.2(TTN):c.77906dup (p.Asn25969fs) rs1559368995
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.78178G>T (p.Glu26060Ter) rs794729289
NM_001267550.2(TTN):c.78184G>T (p.Glu26062Ter) rs869312057
NM_001267550.2(TTN):c.78197dup (p.Tyr26066Ter) rs1553596594
NM_001267550.2(TTN):c.78249T>G (p.Tyr26083Ter) rs747203787
NM_001267550.2(TTN):c.78326G>A (p.Trp26109Ter) rs1559364892
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)
NM_001267550.2(TTN):c.78749del (p.Leu26250fs) rs1064793285
NM_001267550.2(TTN):c.78979C>T (p.Arg26327Ter) rs1419374180
NM_001267550.2(TTN):c.79041del (p.Val26348fs)
NM_001267550.2(TTN):c.79137_79138dup (p.Met26380fs)
NM_001267550.2(TTN):c.79141A>T (p.Lys26381Ter) rs1131691944
NM_001267550.2(TTN):c.79273A>T (p.Lys26425Ter)
NM_001267550.2(TTN):c.79278del (p.Asp26427fs) rs1064796574
NM_001267550.2(TTN):c.79294C>T (p.Arg26432Ter) rs774411587
NM_001267550.2(TTN):c.79298G>A (p.Trp26433Ter) rs1559355268
NM_001267550.2(TTN):c.79371T>A (p.Tyr26457Ter)
NM_001267550.2(TTN):c.79539T>A (p.Tyr26513Ter) rs1575685597
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter) rs869025545
NM_001267550.2(TTN):c.79717G>T (p.Glu26573Ter)
NM_001267550.2(TTN):c.79793T>G (p.Leu26598Ter) rs1064794023
NM_001267550.2(TTN):c.79801G>T (p.Gly26601Ter)
NM_001267550.2(TTN):c.79806_79809del (p.Ile26602fs) rs794729347
NM_001267550.2(TTN):c.79878G>A (p.Trp26626Ter)
NM_001267550.2(TTN):c.79882C>T (p.Arg26628Ter)
NM_001267550.2(TTN):c.79912C>T (p.Gln26638Ter)
NM_001267550.2(TTN):c.79917del (p.Ile26639fs)
NM_001267550.2(TTN):c.80044_80047dup (p.Thr26683fs) rs1553586069
NM_001267550.2(TTN):c.80125_80126dup (p.Asp26710fs)
NM_001267550.2(TTN):c.80169dup (p.Glu26724Ter)
NM_001267550.2(TTN):c.80174_80202dup (p.Ser26735delinsGlnProGluLysArgMetLeuMetTer)
NM_001267550.2(TTN):c.80268_80269del (p.Arg26756fs)
NM_001267550.2(TTN):c.80386del (p.Ser26796fs)
NM_001267550.2(TTN):c.80445C>A (p.Tyr26815Ter)
NM_001267550.2(TTN):c.80547T>A (p.Tyr26849Ter)
NM_001267550.2(TTN):c.80547T>G (p.Tyr26849Ter) rs1575673206
NM_001267550.2(TTN):c.80584del (p.Ser26862fs) rs794729348
NM_001267550.2(TTN):c.80736_80742del (p.Trp26913fs) rs1575670635
NM_001267550.2(TTN):c.80762_80765del (p.Lys26921fs)
NM_001267550.2(TTN):c.80850C>A (p.Tyr26950Ter)
NM_001267550.2(TTN):c.80850C>G (p.Tyr26950Ter) rs794729291
NM_001267550.2(TTN):c.80997_81012del (p.Ala26998_Tyr26999insTer) rs727503559
NM_001267550.2(TTN):c.81100_81103dup (p.Thr27035fs) rs1060500593
NM_001267550.2(TTN):c.81202del (p.Tyr27068fs) rs794729394
NM_001267550.2(TTN):c.81254C>G (p.Ser27085Ter)
NM_001267550.2(TTN):c.81262_81269del (p.Gln27088fs) rs869312059
NM_001267550.2(TTN):c.81323del (p.His27108fs) rs1575663530
NM_001267550.2(TTN):c.81340_81344del (p.Lys27114fs) rs886038928
NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter) rs397517721
NM_001267550.2(TTN):c.81618_86068del (p.Val27207fs)
NM_001267550.2(TTN):c.81650G>A (p.Trp27217Ter) rs1559330805
NM_001267550.2(TTN):c.81723T>A (p.Tyr27241Ter) rs769821404
NM_001267550.2(TTN):c.81943G>T (p.Glu27315Ter) rs373533040
NM_001267550.2(TTN):c.82001_82002del (p.Leu27334fs)
NM_001267550.2(TTN):c.82012del (p.Asp27338fs)
NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter) rs886042331
NM_001267550.2(TTN):c.82226del (p.Lys27409fs) rs1575653015
NM_001267550.2(TTN):c.82240C>T (p.Arg27414Ter) rs766840243
NM_001267550.2(TTN):c.82273C>T (p.Gln27425Ter) rs371332011
NM_001267550.2(TTN):c.82350T>G (p.Tyr27450Ter) rs1060503941
NM_001267550.2(TTN):c.82592_82593del (p.Val27531fs)
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)
NM_001267550.2(TTN):c.82684_82685insSVAelement
NM_001267550.2(TTN):c.82786del (p.Tyr27596fs)
NM_001267550.2(TTN):c.82822G>T (p.Glu27608Ter)
NM_001267550.2(TTN):c.82879C>T (p.Gln27627Ter) rs747365357
NM_001267550.2(TTN):c.83048del (p.Lys27683fs) rs1060500572
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.83345C>G (p.Ser27782Ter) rs769862471
NM_001267550.2(TTN):c.83384del (p.Gly27795fs)
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)
NM_001267550.2(TTN):c.84024_84025del (p.Arg28008fs) rs1575630957
NM_001267550.2(TTN):c.84062_84065del (p.Ser28021fs)
NM_001267550.2(TTN):c.84070_84073del (p.Glu28024fs)
NM_001267550.2(TTN):c.84228del (p.Ser28075_Trp28076insTer)
NM_001267550.2(TTN):c.84365del (p.Gly28122fs) rs750146750
NM_001267550.2(TTN):c.84370_84373del (p.Glu28124fs)
NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter) rs869312119
NM_001267550.2(TTN):c.84405T>G (p.Tyr28135Ter)
NM_001267550.2(TTN):c.84482del (p.Pro28161fs) rs1060500556
NM_001267550.2(TTN):c.84586_84589del (p.Arg28196fs)
NM_001267550.2(TTN):c.84631del (p.Asp28211fs)
NM_001267550.2(TTN):c.84958_84959delinsT (p.Asp28320fs)
NM_001267550.2(TTN):c.85150C>T (p.Arg28384Ter)
NM_001267550.2(TTN):c.85267C>T (p.Arg28423Ter)
NM_001267550.2(TTN):c.85431del (p.Asp28478fs)
NM_001267550.2(TTN):c.85458del (p.Tyr28485_Tyr28486insTer)
NM_001267550.2(TTN):c.85486del (p.Ala28497fs)
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)
NM_001267550.2(TTN):c.85589_85592del (p.Lys28530fs) rs1553562793
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.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.86016G>A (p.Trp28672Ter) rs1553562022
NM_001267550.2(TTN):c.86036dup (p.Gly28680fs)
NM_001267550.2(TTN):c.86116C>T (p.Arg28706Ter) rs794729384
NM_001267550.2(TTN):c.86290_86299del (p.Leu28764fs)
NM_001267550.2(TTN):c.86290_86302del (p.Ile28765fs)
NM_001267550.2(TTN):c.86335C>T (p.Arg28779Ter) rs1060500525
NM_001267550.2(TTN):c.86354_86821+291del rs1559272130
NM_001267550.2(TTN):c.86413del (p.Asp28805fs)
NM_001267550.2(TTN):c.86426C>G (p.Ser28809Ter) rs1553560951
NM_001267550.2(TTN):c.86474T>G (p.Leu28825Ter) rs794729297
NM_001267550.2(TTN):c.86528T>G (p.Leu28843Ter)
NM_001267550.2(TTN):c.86640C>G (p.Tyr28880Ter) rs794729298
NM_001267550.2(TTN):c.86670del (p.Ala28891fs)
NM_001267550.2(TTN):c.86675G>A (p.Trp28892Ter) rs745896785
NM_001267550.2(TTN):c.86742_86745del (p.Tyr28915fs)
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001267550.2(TTN):c.86889G>A (p.Trp28963Ter)
NM_001267550.2(TTN):c.86889del (p.Trp28963fs) rs1559268818
NM_001267550.2(TTN):c.86966G>A (p.Trp28989Ter)
NM_001267550.2(TTN):c.87028del (p.Glu29010fs)
NM_001267550.2(TTN):c.87116_87117dup (p.Glu29040Ter)
NM_001267550.2(TTN):c.87137_87138del (p.Met29046fs)
NM_001267550.2(TTN):c.87253delinsTTA (p.Lys29086fs)
NM_001267550.2(TTN):c.87376_87383dup (p.Phe29129fs)
NM_001267550.2(TTN):c.87451del (p.Thr29151fs)
NM_001267550.2(TTN):c.87566_87567del (p.Ser29189fs)
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)
NM_001267550.2(TTN):c.87751C>T (p.Arg29251Ter) rs794729299
NM_001267550.2(TTN):c.87834_87835del (p.Asp29278fs)
NM_001267550.2(TTN):c.87835del (p.Arg29279fs)
NM_001267550.2(TTN):c.87836_87837del (p.Arg29279fs)
NM_001267550.2(TTN):c.87852G>A (p.Trp29284Ter)
NM_001267550.2(TTN):c.87888del (p.Phe29297fs) rs1060500399
NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter) rs878854428
NM_001267550.2(TTN):c.88091_88094del (p.Gly29364fs)
NM_001267550.2(TTN):c.88177del (p.Thr29393fs) rs1575576927
NM_001267550.2(TTN):c.88204C>T (p.Gln29402Ter)
NM_001267550.2(TTN):c.88422G>A (p.Trp29474Ter) rs1553547657
NM_001267550.2(TTN):c.88562C>A (p.Ser29521Ter) rs1436663696
NM_001267550.2(TTN):c.88594+1G>T rs794727467
NM_001267550.2(TTN):c.88721del (p.Arg29574fs) rs1575547155
NM_001267550.2(TTN):c.88825C>T (p.Arg29609Ter) rs766450773
NM_001267550.2(TTN):c.88837A>T (p.Lys29613Ter) rs794729300
NM_001267550.2(TTN):c.88852_88855del (p.Glu29618fs)
NM_001267550.2(TTN):c.88895-1G>A rs1575540533
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.89083del (p.Lys29694_Val29695insTer)
NM_001267550.2(TTN):c.89118C>A (p.Tyr29706Ter)
NM_001267550.2(TTN):c.89197+1G>C rs1131691873
NM_001267550.2(TTN):c.89197+2T>G rs1575536935
NM_001267550.2(TTN):c.89220_89221insT (p.Ile29741fs) rs1064794472
NM_001267550.2(TTN):c.89222_89226del (p.Ile29741fs) rs1575534947
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter) rs1179247052
NM_001267550.2(TTN):c.89335G>T (p.Glu29779Ter)
NM_001267550.2(TTN):c.89503+1G>C rs1559218619
NM_001267550.2(TTN):c.89553del (p.Ala29853fs) rs1575529262
NM_001267550.2(TTN):c.89625del (p.Asp29876fs) rs1559216544
NM_001267550.2(TTN):c.89658C>A (p.Tyr29886Ter)
NM_001267550.2(TTN):c.89827A>T (p.Lys29943Ter)
NM_001267550.2(TTN):c.89861G>A (p.Trp29954Ter) rs1060500457
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs) rs869312081
NM_001267550.2(TTN):c.90058G>T (p.Glu30020Ter)
NM_001267550.2(TTN):c.90085G>T (p.Glu30029Ter)
NM_001267550.2(TTN):c.90195T>A (p.Tyr30065Ter) rs920201335
NM_001267550.2(TTN):c.90208_90209insSVAelement
NM_001267550.2(TTN):c.90249del (p.Ser30083fs)
NM_001267550.2(TTN):c.90306_90307del (p.Arg30102fs)
NM_001267550.2(TTN):c.90358del (p.Ile30120fs)
NM_001267550.2(TTN):c.90415_90421dup (p.Val30141fs)
NM_001267550.2(TTN):c.90594dup (p.Gly30199fs) rs1553539686
NM_001267550.2(TTN):c.90605dup (p.Tyr30202Ter)
NM_001267550.2(TTN):c.90623dup (p.Asn30208fs) rs1553539620
NM_001267550.2(TTN):c.90696del (p.Arg30233fs)
NM_001267550.2(TTN):c.90697C>T (p.Arg30233Ter) rs1553539391
NM_001267550.2(TTN):c.90699del (p.Phe30234fs)
NM_001267550.2(TTN):c.90760G>T (p.Gly30254Ter) rs1060500495
NM_001267550.2(TTN):c.90844del (p.Thr30282fs)
NM_001267550.2(TTN):c.90883dup (p.Tyr30295fs)
NM_001267550.2(TTN):c.90910A>T (p.Arg30304Ter)
NM_001267550.2(TTN):c.90994_90997dup (p.Ile30333fs) rs1559200975
NM_001267550.2(TTN):c.91025C>A (p.Ser30342Ter)
NM_001267550.2(TTN):c.91097_91100del (p.Arg30366fs)
NM_001267550.2(TTN):c.91445_91446del (p.Thr30482fs)
NM_001267550.2(TTN):c.91476T>G (p.Tyr30492Ter) rs727504646
NM_001267550.2(TTN):c.91669C>T (p.Arg30557Ter) rs1553536305
NM_001267550.2(TTN):c.91678_91685dup (p.Lys30562fs)
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs) rs779129892
NM_001267550.2(TTN):c.91839dup (p.Val30614fs) rs730880365
NM_001267550.2(TTN):c.91965C>A (p.Tyr30655Ter) rs1060500402
NM_001267550.2(TTN):c.92079dup (p.Val30694fs)
NM_001267550.2(TTN):c.92236_92237del (p.Asp30746fs)
NM_001267550.2(TTN):c.92284_92288dup (p.Ser30763fs) rs756367933
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter) rs794729301
NM_001267550.2(TTN):c.92504del (p.Lys30835fs)
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)
NM_001267550.2(TTN):c.92797C>T (p.Gln30933Ter) rs1553532356
NM_001267550.2(TTN):c.92884_92887del (p.Pro30962fs)
NM_001267550.2(TTN):c.92962A>T (p.Arg30988Ter)
NM_001267550.2(TTN):c.93088del (p.Arg31030fs)
NM_001267550.2(TTN):c.93091G>T (p.Gly31031Ter) rs907669905
NM_001267550.2(TTN):c.93337C>T (p.Gln31113Ter)
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.94103_94107del (p.Ile31368fs) rs769488730
NM_001267550.2(TTN):c.94128del (p.Lys31375_Tyr31376insTer)
NM_001267550.2(TTN):c.94182_94183insAGCAGCT (p.Leu31395fs) rs1219954334
NM_001267550.2(TTN):c.94220-1G>A rs1553525592
NM_001267550.2(TTN):c.94332G>A (p.Trp31444Ter)
NM_001267550.2(TTN):c.94405A>T (p.Lys31469Ter) rs1553524697
NM_001267550.2(TTN):c.94747_94748del (p.Arg31583fs)
NM_001267550.2(TTN):c.94816C>T (p.Arg31606Ter) rs1060500435
NM_001267550.2(TTN):c.94939del (p.Ile31647fs) rs1553521978
NM_001267550.2(TTN):c.95023_95024del (p.Ile31675fs)
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.95246del (p.Glu31749fs)
NM_001267550.2(TTN):c.95289_95298del (p.Thr31764fs) rs1575442120
NM_001267550.2(TTN):c.95415_95416+2del rs769407533
NM_001267550.2(TTN):c.95669del (p.Gly31890fs)
NM_001267550.2(TTN):c.95723-2A>C
NM_001267550.2(TTN):c.95735del (p.Pro31912fs) rs1553519454
NM_001267550.2(TTN):c.95772_95773del (p.His31924fs) rs1060500544
NM_001267550.2(TTN):c.95805C>A (p.Tyr31935Ter) rs375076970
NM_001267550.2(TTN):c.95872C>T (p.Arg31958Ter)
NM_001267550.2(TTN):c.95992G>T (p.Glu31998Ter)
NM_001267550.2(TTN):c.95992del (p.Glu31998fs)
NM_001267550.2(TTN):c.96069dup (p.Val32024fs) rs878854432
NM_001267550.2(TTN):c.96105_96106insACAGGAG (p.Val32036fs)
NM_001267550.2(TTN):c.96260_96279dup (p.Lys32094fs)
NM_001267550.2(TTN):c.96303dup (p.Val32102fs)
NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter)
NM_001267550.2(TTN):c.96682dup (p.Tyr32228fs)
NM_001267550.2(TTN):c.96849del (p.Gly32284fs)
NM_001267550.2(TTN):c.96870_96871del (p.Glu32290fs)
NM_001267550.2(TTN):c.96904+1G>A rs1553517092
NM_001267550.2(TTN):c.96909dup (p.Pro32304fs) rs1553516759
NM_001267550.2(TTN):c.96937C>T (p.Gln32313Ter)
NM_001267550.2(TTN):c.96997del (p.Arg32333fs)
NM_001267550.2(TTN):c.97114dup (p.Arg32372fs) rs1064793419
NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs) rs748382770
NM_001267550.2(TTN):c.97395del (p.Glu32466fs) rs1553515473
NM_001267550.2(TTN):c.97451_97452del (p.Ser32484fs) rs878854433
NM_001267550.2(TTN):c.97470_97492+248del rs1559108136
NM_001267550.2(TTN):c.97475_97476del (p.Glu32492fs)
NM_001267550.2(TTN):c.97506_97507insTT (p.Pro32503fs)
NM_001267550.2(TTN):c.97520del (p.Gln32507fs)
NM_001267550.2(TTN):c.97950dup (p.Asn32651Ter)
NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter) rs727504679
NM_001267550.2(TTN):c.98136del (p.Gly32713fs)
NM_001267550.2(TTN):c.98168_98169del (p.Arg32723fs)
NM_001267550.2(TTN):c.98171_98174dup (p.Ile32726fs)
NM_001267550.2(TTN):c.98299del (p.Arg32767fs)
NM_001267550.2(TTN):c.98421_98422insGG (p.Ile32808fs)
NM_001267550.2(TTN):c.98500del (p.Glu32834fs)
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter) rs869312085
NM_001267550.2(TTN):c.98528G>A (p.Trp32843Ter) rs727504550
NM_001267550.2(TTN):c.98551C>T (p.Arg32851Ter) rs553821887
NM_001267550.2(TTN):c.98623C>T (p.Gln32875Ter)
NM_001267550.2(TTN):c.98660del (p.Pro32887fs) rs1553509300
NM_001267550.2(TTN):c.98774del (p.Gly32925fs)
NM_001267550.2(TTN):c.98803G>T (p.Glu32935Ter)
NM_001267550.2(TTN):c.98989+1G>A rs112240298
NM_001267550.2(TTN):c.98994del (p.Lys32998fs) rs727504535
NM_001267550.2(TTN):c.99034A>T (p.Lys33012Ter) rs771511344
NM_001267550.2(TTN):c.99041del (p.Ser33014fs)
NM_001267550.2(TTN):c.99053dup (p.Trp33019fs)
NM_001267550.2(TTN):c.99063del (p.Lys33021fs) rs1445687820
NM_001267550.2(TTN):c.99113_99114del (p.Arg33038fs)
NM_001267550.2(TTN):c.99289+1G>C
NM_001267550.2(TTN):c.99588_99595del (p.Phe33196fs) rs1553504889
NM_001267550.2(TTN):c.99610G>T (p.Glu33204Ter)
NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter) rs794727539
NM_001267550.2(TTN):c.99783dup (p.Lys33262Ter) rs1575324979
NM_003319.4(TTN):c.25304_25309delinsAGTAA (p.Pro8435_Leu8437delinsGlnTer) rs1559748217
NM_003319.4(TTN):c.46129_46133delinsC (p.Ala15377fs) rs1553607562
NM_003319.4(TTN):c.54523del (p.Arg18175fs) rs1575658959
NM_003319.4(TTN):c.59095_59108delinsA (p.Leu19699fs) rs1064792916
NM_003319.4(TTN):c.69038_69041delinsCCT (p.Tyr23013fs) rs1553518529
NM_003319.4(TTN):c.73747_73749delinsT (p.Arg24583fs) rs1559050685
NM_003319.4(TTN):c.75601_75603delinsTATA (p.Asn25201fs) rs1060500589
NM_133378.4(TTN):c.59644+1G>A rs758279518
Single allele

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