ClinVar Miner

Variants with conflicting interpretations studied for Hereditary myopathy with early respiratory failure

Coded as:
Minimum review status of the submission for Hereditary myopathy with early respiratory failure: Y axis collection method of the submission for Hereditary myopathy with early respiratory failure:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
6 377 2 246 363 0 9 610

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Hereditary myopathy with early respiratory failure pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 2 1 3 0 0
likely pathogenic 6 0 2 1 0
uncertain significance 2 1 0 311 200
likely benign 0 1 5 0 238
benign 0 0 1 1 0

Condition to condition summary #

Total conditions: 31
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not specified 0 83 0 237 325 0 2 563
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 0 134 0 151 273 0 1 425
Cardiovascular phenotype 0 61 0 205 122 0 1 328
Cardiomyopathy 0 31 0 67 84 0 1 152
not provided 0 207 0 33 74 0 4 109
Distal myopathy Markesbery-Griggs type 0 977 2 0 0 0 0 2
Limb-girdle muscular dystrophy, type 2J 0 28 0 0 0 0 2 2
Primary dilated cardiomyopathy 0 1 0 0 1 0 1 2
Aminoaciduria 0 0 0 1 0 0 0 1
Breast-ovarian cancer, familial 1 0 0 0 1 0 0 1 1
Chromosome 15q11-q13 duplication syndrome 0 0 0 1 0 0 0 1
Chromosome 17q12 duplication syndrome 0 0 0 1 0 0 0 1
Deafness, autosomal recessive 1A 0 0 0 1 0 0 0 1
Dent disease 1 0 0 0 1 0 0 0 1
Dihydropteridine reductase deficiency 0 0 0 1 0 0 0 1
Dilated Cardiomyopathy, Dominant 0 948 0 0 1 0 0 1
Ductal breast carcinoma 0 0 0 0 0 0 1 1
Hematologic neoplasm 0 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy 0 948 0 0 1 0 0 1
Hypophosphatemic rickets, X-linked recessive 0 0 0 1 0 0 0 1
Limb-Girdle Muscular Dystrophy, Recessive 0 948 0 0 1 0 0 1
Limb-girdle muscular dystrophy 0 0 0 0 0 0 1 1
Lowe syndrome 0 0 0 1 0 0 0 1
Myopathy, early-onset, with fatal cardiomyopathy 0 974 0 0 1 0 0 1
Primary familial hypertrophic cardiomyopathy 0 2 0 0 1 0 0 1
Primary hyperoxaluria, type I 0 0 0 0 0 0 1 1
Spherocytosis type 2 0 0 0 1 0 0 0 1
T-cell acute lymphoblastic leukemia 0 0 0 1 0 0 0 1
Vici syndrome 0 0 0 1 0 0 0 1
Vitamin B2 deficiency 0 0 0 1 0 0 0 1
alpha Thalassemia 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 610
Download table as spreadsheet
HGVS dbSNP
NM_001256850.1(TTN):c.100204C>T (p.Arg33402Cys) rs200378865
NM_001256850.1(TTN):c.100589C>T (p.Thr33530Ile) rs774524898
NM_001256850.1(TTN):c.101655T>A (p.Ser33885=) rs55838839
NM_001256850.1(TTN):c.101897C>T (p.Ala33966Val) rs377337528
NM_001256850.1(TTN):c.102966delA (p.Lys34322Asnfs) rs281864930
NM_001256850.1(TTN):c.15035G>A (p.Gly5012Asp) rs202234492
NM_001256850.1(TTN):c.1537-4G>A rs56006378
NM_001256850.1(TTN):c.17038G>A (p.Ala5680Thr) rs72648946
NM_001256850.1(TTN):c.1743G>A (p.Pro581=) rs138560523
NM_001256850.1(TTN):c.18010A>G (p.Ile6004Val) rs145204073
NM_001256850.1(TTN):c.1938+10G>C rs190935632
NM_001256850.1(TTN):c.19467A>C (p.Lys6489Asn) rs768932465
NM_001256850.1(TTN):c.20717G>A (p.Arg6906His) rs138853909
NM_001256850.1(TTN):c.20849G>A (p.Gly6950Asp) rs375627540
NM_001256850.1(TTN):c.22017C>T (p.Asn7339=) rs201904848
NM_001256850.1(TTN):c.23014C>T (p.Arg7672Cys) rs201653851
NM_001256850.1(TTN):c.23199C>T (p.Ser7733=) rs185062935
NM_001256850.1(TTN):c.25721A>G (p.Asn8574Ser) rs146057575
NM_001256850.1(TTN):c.25731G>A (p.Pro8577=) rs142812510
NM_001256850.1(TTN):c.29012-13A>G rs72650008
NM_001256850.1(TTN):c.29273-8T>G rs72650010
NM_001256850.1(TTN):c.29534C>T (p.Thr9845Met) rs200593368
NM_001256850.1(TTN):c.296-14T>C rs199951296
NM_001256850.1(TTN):c.31442-12A>G rs16866434
NM_001256850.1(TTN):c.32905G>A (p.Glu10969Lys) rs376874956
NM_001256850.1(TTN):c.33479T>C (p.Leu11160Pro) rs376836503
NM_001256850.1(TTN):c.34607-14T>C rs200916144
NM_001256850.1(TTN):c.35485+7_35485+10dup rs397517560
NM_001256850.1(TTN):c.426C>T (p.Ala142=) rs56137037
NM_001256850.1(TTN):c.43537+8C>T rs2288565
NM_001256850.1(TTN):c.45440T>C (p.Ile15147Thr) rs397517599
NM_001256850.1(TTN):c.46859G>A (p.Arg15620Gln) rs201825412
NM_001256850.1(TTN):c.46886G>T (p.Ser15629Ile) rs200650668
NM_001256850.1(TTN):c.48337T>C (p.Phe16113Leu) rs397517612
NM_001256850.1(TTN):c.50509+5G>C rs754717390
NM_001256850.1(TTN):c.53503G>A (p.Val17835Ile) rs397517636
NM_001256850.1(TTN):c.55898C>T (p.Pro18633Leu) rs72646845
NM_001256850.1(TTN):c.56953C>T (p.Arg18985Ter) rs72646846
NM_001256850.1(TTN):c.59757dupC (p.Gly19920Argfs) rs794729330
NM_001256850.1(TTN):c.59839G>A (p.Gly19947Arg) rs181717727
NM_001256850.1(TTN):c.60611C>T (p.Pro20204Leu) rs201662134
NM_001256850.1(TTN):c.60806T>C (p.Ile20269Thr) rs146941600
NM_001256850.1(TTN):c.60824G>A (p.Arg20275Gln) rs148849567
NM_001256850.1(TTN):c.63535G>C (p.Ala21179Pro) rs72646880
NM_001256850.1(TTN):c.64207C>T (p.Pro21403Ser) rs55980498
NM_001256850.1(TTN):c.67456G>A (p.Glu22486Lys) rs149763294
NM_001256850.1(TTN):c.67843A>G (p.Asn22615Asp) rs187868672
NM_001256850.1(TTN):c.6790+12C>T rs200187117
NM_001256850.1(TTN):c.68902G>C (p.Glu22968Gln) rs55762754
NM_001256850.1(TTN):c.69968C>T (p.Pro23323Leu) rs72646899
NM_001256850.1(TTN):c.71999G>A (p.Arg24000His) rs369707906
NM_001256850.1(TTN):c.72890G>C (p.Trp24297Ser) rs186681106
NM_001256850.1(TTN):c.74933G>A (p.Arg24978His) rs530507211
NM_001256850.1(TTN):c.76114C>T (p.Arg25372Ter) rs869038795
NM_001256850.1(TTN):c.76635T>C (p.Asn25545=) rs56181243
NM_001256850.1(TTN):c.77015G>A (p.Gly25672Glu) rs199670463
NM_001256850.1(TTN):c.77113C>T (p.Gln25705Ter) rs886042331
NM_001256850.1(TTN):c.77768C>T (p.Ala25923Val) rs55634791
NM_001256850.1(TTN):c.78593G>A (p.Arg26198Gln) rs376820301
NM_001256850.1(TTN):c.8069C>T (p.Thr2690Ile) rs374620001
NM_001256850.1(TTN):c.81129T>C (p.Thr27043=) rs76928874
NM_001256850.1(TTN):c.83167G>A (p.Gly27723Ser) rs183013408
NM_001256850.1(TTN):c.835C>T (p.Arg279Trp) rs138060032
NM_001256850.1(TTN):c.83797C>T (p.Arg27933Cys) rs200513274
NM_001256850.1(TTN):c.83798G>A (p.Arg27933His) rs111727915
NM_001256850.1(TTN):c.85066T>A (p.Leu28356Met) rs369855092
NM_001256850.1(TTN):c.86634T>C (p.Asp28878=) rs202185465
NM_001256850.1(TTN):c.86678A>T (p.Asp28893Val) rs182549226
NM_001256850.1(TTN):c.87776A>G (p.Asn29259Ser) rs186234393
NM_001256850.1(TTN):c.88601G>A (p.Arg29534His) rs72648251
NM_001256850.1(TTN):c.8902+14T>A rs13388274
NM_001256850.1(TTN):c.89700C>T (p.Tyr29900=) rs376539252
NM_001256850.1(TTN):c.90203C>G (p.Pro30068Arg) rs869320739
NM_001256850.1(TTN):c.90264G>C (p.Trp30088Cys) rs869320742
NM_001256850.1(TTN):c.92512C>A (p.Arg30838Ser) rs200148139
NM_001256850.1(TTN):c.94907G>A (p.Gly31636Glu) rs397517781
NM_001256850.1(TTN):c.95249-10dupT rs397517782
NM_001256850.1(TTN):c.97348C>T (p.Arg32450Trp) rs140319117
NM_001256850.1(TTN):c.97828A>G (p.Met32610Val) rs56173891
NM_001256850.1(TTN):c.98494G>A (p.Val32832Ile) rs188917199
NM_001256850.1(TTN):c.98765T>C (p.Val32922Ala) rs55945684
NM_001256850.1(TTN):c.99442G>A (p.Glu33148Lys) rs190565627
NM_001256850.1(TTN):c.99846A>C (p.Thr33282=) rs56375087
NM_001267550.1(TTN):c.45599C>G rs201057307
NM_001267550.1(TTN):c.83315A>T rs578191491
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=) rs56026369
NM_001267550.2(TTN):c.1002C>T (p.Thr334=) rs148094198
NM_001267550.2(TTN):c.100766-10T>C rs202214630
NM_001267550.2(TTN):c.10128G>A (p.Ser3376=) rs755262343
NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=) rs367732133
NM_001267550.2(TTN):c.101406C>G (p.Val33802=) rs55802460
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter) rs727504184
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007
NM_001267550.2(TTN):c.105653T>C (p.Ile35218Thr) rs143499441
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) rs6725673
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=) rs56324602
NM_001267550.2(TTN):c.106920G>A (p.Leu35640=) rs183923129
NM_001267550.2(TTN):c.107961T>C (p.His35987=) rs377439315
NM_001267550.2(TTN):c.17741-9A>G rs72648944
NM_001267550.2(TTN):c.18549C>T (p.Asp6183=) rs200549353
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555
NM_001267550.2(TTN):c.19191G>A (p.Thr6397=) rs140495148
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) rs116572520
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=) rs202089818
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=) rs201155967
NM_001267550.2(TTN):c.24345C>T (p.Ser8115=) rs72648977
NM_001267550.2(TTN):c.24579A>G (p.Thr8193=) rs72648979
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804
NM_001267550.2(TTN):c.26762-34_26762-10dup rs71393436
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile) rs144930507
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=) rs188584219
NM_001267550.2(TTN):c.30512-10dup rs397517532
NM_001267550.2(TTN):c.31806C>T (p.Pro10602=) rs370080995
NM_001267550.2(TTN):c.32807-10T>A rs138192315
NM_001267550.2(TTN):c.33340+10T>C rs72650039
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=) rs150612172
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) rs76081119
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=) rs74321406
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu) rs75686037
NM_001267550.2(TTN):c.56910C>T (p.Gly18970=) rs148299739
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=) rs55956577
NM_001267550.2(TTN):c.59344+3G>A rs142095604
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608
NM_001267550.2(TTN):c.61029T>C (p.Phe20343=) rs6706088
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=) rs72646867
NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp) rs571093313
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876
NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=) rs375538420
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=) rs11904444
NM_001267550.2(TTN):c.68885_68888dupATAC (p.Ile22964Tyrfs) rs757603460
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=) rs72646893
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=) rs72646894
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=) rs56293906
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=) rs140350441
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=) rs55696153
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600
NM_001267550.2(TTN):c.79689C>A (p.Val26563=) rs10185798
NM_001267550.2(TTN):c.80115G>T (p.Glu26705Asp) rs558830502
NM_001267550.2(TTN):c.82575G>A (p.Thr27525=) rs11896779
NM_001267550.2(TTN):c.83080C>T (p.Arg27694Cys) rs192360370
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=) rs72648255
NM_001267550.2(TTN):c.95372G>A (p.Gly31791Asp) rs869320744
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) rs376810671
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=) rs138968178
NM_003319.4(TTN):c.13282+4410G>A rs72648932
NM_003319.4(TTN):c.36684C>T (p.Asp12228=) rs200463088
NM_003319.4(TTN):c.71967G>A (p.Lys23989=) rs368686031
NM_133378.4(TTN):c.*6C>A rs188728343
NM_133378.4(TTN):c.100076_100086delAAGTAACATGGinsTGAAAGAAAAA (p.Glu33359_Trp33362delinsValLysGluLys) rs281864927
NM_133378.4(TTN):c.10024G>A (p.Val3342Ile) rs727503679
NM_133378.4(TTN):c.10256G>A (p.Ser3419Asn) rs2291310
NM_133378.4(TTN):c.1068G>A (p.Glu356=) rs144716589
NM_133378.4(TTN):c.10793G>A (p.Arg3598Lys) rs2742347
NM_133378.4(TTN):c.1079G>C (p.Arg360Thr) rs56128843
NM_133378.4(TTN):c.10878C>T (p.Ser3626=) rs2742348
NM_133378.4(TTN):c.11033G>A (p.Ser3678Asn) rs184740744
NM_133378.4(TTN):c.11241T>C (p.Tyr3747=) rs761666344
NM_133378.4(TTN):c.11252C>G (p.Pro3751Arg) rs72648927
NM_133378.4(TTN):c.11446G>A (p.Val3816Ile) rs72648929
NM_133378.4(TTN):c.11446G>C (p.Val3816Leu) rs72648929
NM_133378.4(TTN):c.12099C>T (p.Pro4033=) rs780784090
NM_133378.4(TTN):c.12324T>C (p.Asp4108=) rs376820575
NM_133378.4(TTN):c.12363C>T (p.Asn4121=) rs72648935
NM_133378.4(TTN):c.12381T>C (p.Asn4127=) rs143845692
NM_133378.4(TTN):c.12543G>A (p.Gly4181=) rs772821743
NM_133378.4(TTN):c.12571G>A (p.Val4191Met) rs72648937
NM_133378.4(TTN):c.12797A>G (p.Tyr4266Cys) rs72648939
NM_133378.4(TTN):c.13316A>G (p.Tyr4439Cys) rs72648942
NM_133378.4(TTN):c.13451-7C>T rs371785683
NM_133378.4(TTN):c.1365G>A (p.Thr455=) rs145211131
NM_133378.4(TTN):c.1398+4C>T rs368548209
NM_133378.4(TTN):c.1398+8C>T rs72647848
NM_133378.4(TTN):c.1398+9G>A rs368350210
NM_133378.4(TTN):c.14156A>G (p.Glu4719Gly) rs146983095
NM_133378.4(TTN):c.14658A>T (p.Thr4886=) rs66523653
NM_133378.4(TTN):c.1492G>A (p.Val498Ile) rs72647851
NM_133378.4(TTN):c.15013G>A (p.Asp5005Asn) rs201263441
NM_133378.4(TTN):c.15044C>G (p.Thr5015Ser) rs72648949
NM_133378.4(TTN):c.15084T>C (p.Ile5028=) rs146219199
NM_133378.4(TTN):c.15092A>G (p.Asn5031Ser) rs184412722
NM_133378.4(TTN):c.15272A>G (p.Asp5091Gly) rs72648951
NM_133378.4(TTN):c.15569G>A (p.Ser5190Asn) rs11888217
NM_133378.4(TTN):c.15624C>T (p.Ser5208=) rs369275615
NM_133378.4(TTN):c.15651T>C (p.Asn5217=) rs76771282
NM_133378.4(TTN):c.1585G>A (p.Ala529Thr) rs143030869
NM_133378.4(TTN):c.16443A>G (p.Ile5481Met) rs146627500
NM_133378.4(TTN):c.17129C>T (p.Ala5710Val) rs17355446
NM_133378.4(TTN):c.17312C>T (p.Ala5771Val) rs72648960
NM_133378.4(TTN):c.17374G>A (p.Asp5792Asn) rs72648962
NM_133378.4(TTN):c.17632G>A (p.Ala5878Thr) rs201394117
NM_133378.4(TTN):c.178G>T (p.Asp60Tyr) rs35683768
NM_133378.4(TTN):c.18047C>A (p.Ser6016Tyr) rs187925021
NM_133378.4(TTN):c.18345A>T (p.Gly6115=) rs202102237
NM_133378.4(TTN):c.18348T>C (p.Asp6116=) rs16866473
NM_133378.4(TTN):c.18879T>C (p.His6293=) rs16866469
NM_133378.4(TTN):c.18902G>A (p.Arg6301Gln) rs72648969
NM_133378.4(TTN):c.19054G>C (p.Asp6352His) rs72648970
NM_133378.4(TTN):c.19297G>A (p.Gly6433Arg) rs367826445
NM_133378.4(TTN):c.19367-3T>C rs2562830
NM_133378.4(TTN):c.19445C>T (p.Ser6482Leu) rs17452588
NM_133378.4(TTN):c.19491G>A (p.Gln6497=) rs2562831
NM_133378.4(TTN):c.19570G>A (p.Asp6524Asn) rs72648973
NM_133378.4(TTN):c.19806C>G (p.Phe6602Leu) rs149523263
NM_133378.4(TTN):c.20495-15C>T rs397517505
NM_133378.4(TTN):c.20784C>T (p.Thr6928=) rs72648978
NM_133378.4(TTN):c.21148A>G (p.Arg7050Gly) rs72648982
NM_133378.4(TTN):c.21177G>A (p.Lys7059=) rs72648983
NM_133378.4(TTN):c.21220G>A (p.Val7074Ile) rs200103997
NM_133378.4(TTN):c.21666T>A (p.Asp7222Glu) rs72648986
NM_133378.4(TTN):c.21758G>A (p.Arg7253His) rs149855485
NM_133378.4(TTN):c.21894G>T (p.Gln7298His) rs2562832
NM_133378.4(TTN):c.21972G>A (p.Arg7324=) rs150544093
NM_133378.4(TTN):c.21975T>C (p.Tyr7325=) rs2742329
NM_133378.4(TTN):c.22026C>T (p.Asp7342=) rs372802604
NM_133378.4(TTN):c.22189+10C>T rs10183237
NM_133378.4(TTN):c.22204C>T (p.Arg7402Cys) rs72648987
NM_133378.4(TTN):c.22246G>A (p.Val7416Ile) rs141856116
NM_133378.4(TTN):c.22359A>T (p.Leu7453=) rs2562836
NM_133378.4(TTN):c.22513G>A (p.Val7505Ile) rs16866457
NM_133378.4(TTN):c.22557A>G (p.Glu7519=) rs2562838
NM_133378.4(TTN):c.22676A>G (p.Asn7559Ser) rs12693164
NM_133378.4(TTN):c.22923C>T (p.Ser7641=) rs2562839
NM_133378.4(TTN):c.22949C>T (p.Pro7650Leu) rs13398235
NM_133378.4(TTN):c.23030-14_23030-10dupTTTGT rs71393436
NM_133378.4(TTN):c.23030-19_23030-10dupTTTGTTTTGT rs71393436
NM_133378.4(TTN):c.23117A>G (p.Tyr7706Cys) rs199557654
NM_133378.4(TTN):c.23259A>G (p.Thr7753=) rs61232800
NM_133378.4(TTN):c.23766G>A (p.Ser7922=) rs372528823
NM_133378.4(TTN):c.23922T>G (p.Val7974=) rs780101457
NM_133378.4(TTN):c.2432C>T (p.Thr811Ile) rs35813871
NM_133378.4(TTN):c.24775G>A (p.Val8259Ile) rs202160275
NM_133378.4(TTN):c.24810G>A (p.Glu8270=) rs370604793
NM_133378.4(TTN):c.24930G>A (p.Arg8310=) rs2742332
NM_133378.4(TTN):c.25421T>C (p.Ile8474Thr) rs4893852
NM_133378.4(TTN):c.25446C>A (p.Ile8482=) rs72650003
NM_133378.4(TTN):c.26031T>C (p.Ile8677=) rs2742343
NM_133378.4(TTN):c.26067G>A (p.Ser8689=) rs2742344
NM_133378.4(TTN):c.26080A>T (p.Thr8694Ser) rs72650006
NM_133378.4(TTN):c.27220G>A (p.Glu9074Lys) rs73038324
NM_133378.4(TTN):c.27832A>G (p.Ile9278Val) rs2042995
NM_133378.4(TTN):c.28030+5G>A rs145387989
NM_133378.4(TTN):c.28032C>T (p.Val9344=) rs766441395
NM_133378.4(TTN):c.28132G>A (p.Gly9378Arg) rs2244492
NM_133378.4(TTN):c.28618C>G (p.Leu9540Val) rs72650029
NM_133378.4(TTN):c.28916G>A (p.Arg9639Lys) rs116676813
NM_133378.4(TTN):c.29149A>G (p.Ile9717Val) rs886055284
NM_133378.4(TTN):c.29222G>C (p.Arg9741Pro) rs181395238
NM_133378.4(TTN):c.29555G>A (p.Arg9852His) rs36051007
NM_133378.4(TTN):c.30102G>A (p.Glu10034=) rs35112591
NM_133378.4(TTN):c.30330A>G (p.Glu10110=) rs886055281
NM_133378.4(TTN):c.30408A>G (p.Glu10136=) rs147418835
NM_133378.4(TTN):c.30484C>A (p.Pro10162Thr) rs532102837
NM_133378.4(TTN):c.30515_30517delAAG (p.Glu10172del) rs397517549
NM_133378.4(TTN):c.30560-15A>G rs764544769
NM_133378.4(TTN):c.30634+14G>A rs397517550
NM_133378.4(TTN):c.30663A>C (p.Glu10221Asp) rs140640738
NM_133378.4(TTN):c.3100G>A (p.Val1034Met) rs142951505
NM_133378.4(TTN):c.31067G>A (p.Arg10356His) rs59887778
NM_133378.4(TTN):c.3132C>T (p.Ala1044=) rs777315600
NM_133378.4(TTN):c.31361A>C (p.Lys10454Thr) rs189966800
NM_133378.4(TTN):c.31742-15C>T rs749495580
NM_133378.4(TTN):c.31780G>A (p.Val10594Met) rs73038314
NM_133378.4(TTN):c.31788G>A (p.Ala10596=) rs375519815
NM_133378.4(TTN):c.31881T>A (p.Pro10627=) rs12474306
NM_133378.4(TTN):c.32314C>T (p.Pro10772Ser) rs186404793
NM_133378.4(TTN):c.32402C>G (p.Pro10801Arg) rs72650066
NM_133378.4(TTN):c.32704+8delA rs727504922
NM_133378.4(TTN):c.32794G>T (p.Val10932Phe) rs201944202
NM_133378.4(TTN):c.32930-9A>G rs373511249
NM_133378.4(TTN):c.32997G>A (p.Arg10999=) rs750761966
NM_133378.4(TTN):c.33804T>C (p.Ala11268=) rs55847232
NM_133378.4(TTN):c.33G>A (p.Pro11=) rs138331646
NM_133378.4(TTN):c.34367A>G (p.His11456Arg) rs2288563
NM_133378.4(TTN):c.34625T>C (p.Val11542Ala) rs34706299
NM_133378.4(TTN):c.35079A>G (p.Lys11693=) rs16866425
NM_133378.4(TTN):c.35187C>T (p.Gly11729=) rs550471556
NM_133378.4(TTN):c.35254A>G (p.Lys11752Glu) rs6723526
NM_133378.4(TTN):c.35784G>A (p.Arg11928=) rs56034831
NM_133378.4(TTN):c.35892T>C (p.Asn11964=) rs16866423
NM_133378.4(TTN):c.35899C>T (p.Arg11967Cys) rs12471771
NM_133378.4(TTN):c.3601A>G (p.Lys1201Glu) rs10497520
NM_133378.4(TTN):c.36889G>A (p.Glu12297Lys) rs543102139
NM_133378.4(TTN):c.36895G>A (p.Gly12299Arg) rs144848584
NM_133378.4(TTN):c.36987G>A (p.Lys12329=) rs755769210
NM_133378.4(TTN):c.37350G>A (p.Ala12450=) rs781392140
NM_133378.4(TTN):c.37379-10A>G rs72677222
NM_133378.4(TTN):c.37502A>T (p.Glu12501Val) rs114331773
NM_133378.4(TTN):c.37624G>A (p.Asp12542Asn) rs17354992
NM_133378.4(TTN):c.37822C>T (p.Leu12608=) rs61004744
NM_133378.4(TTN):c.38034T>C (p.Ala12678=) rs2303829
NM_133378.4(TTN):c.38361G>C (p.Lys12787Asn) rs397517583
NM_133378.4(TTN):c.3884C>T (p.Ser1295Leu) rs1552280
NM_133378.4(TTN):c.39096A>G (p.Glu13032=) rs190058852
NM_133378.4(TTN):c.39143C>T (p.Thr13048Met) rs368057764
NM_133378.4(TTN):c.39176C>T (p.Ala13059Val) rs115813214
NM_133378.4(TTN):c.39373G>A (p.Val13125Ile) rs201717871
NM_133378.4(TTN):c.39487C>T (p.Arg13163Cys) rs72677231
NM_133378.4(TTN):c.39544G>A (p.Val13182Ile) rs72677232
NM_133378.4(TTN):c.39611G>A (p.Arg13204Gln) rs72677233
NM_133378.4(TTN):c.39696G>A (p.Lys13232=) rs114145817
NM_133378.4(TTN):c.39841C>A (p.Pro13281Thr) rs146181477
NM_133378.4(TTN):c.40019G>A (p.Arg13340His) rs72677237
NM_133378.4(TTN):c.4034G>A (p.Gly1345Asp) rs36021856
NM_133378.4(TTN):c.40350C>T (p.Ala13450=) rs779940754
NM_133378.4(TTN):c.4076A>G (p.Glu1359Gly) rs370978752
NM_133378.4(TTN):c.41023C>T (p.Pro13675Ser) rs72677242
NM_133378.4(TTN):c.41292G>A (p.Glu13764=) rs72677244
NM_133378.4(TTN):c.41559C>T (p.Tyr13853=) rs376188859
NM_133378.4(TTN):c.4177A>G (p.Ile1393Val) rs16866531
NM_133378.4(TTN):c.42027T>C (p.His14009=) rs2115558
NM_133378.4(TTN):c.42215G>C (p.Ser14072Thr) rs55663050
NM_133378.4(TTN):c.42281A>C (p.Asn14094Thr) rs36043230
NM_133378.4(TTN):c.43010G>A (p.Arg14337His) rs191539637
NM_133378.4(TTN):c.4328T>C (p.Leu1443Pro) rs142317580
NM_133378.4(TTN):c.43778C>T (p.Ala14593Val) rs16866412
NM_133378.4(TTN):c.43823G>C (p.Gly14608Ala) rs768961892
NM_133378.4(TTN):c.43974C>T (p.Asn14658=) rs372635204
NM_133378.4(TTN):c.43980G>A (p.Ala14660=) rs2288566
NM_133378.4(TTN):c.4480+6C>T rs719201
NM_133378.4(TTN):c.45117T>C (p.Asp15039=) rs2303831
NM_133378.4(TTN):c.45213T>C (p.Asp15071=) rs73036398
NM_133378.4(TTN):c.45392G>A (p.Arg15131His) rs72646808
NM_133378.4(TTN):c.45419A>T (p.Lys15140Ile) rs2303832
NM_133378.4(TTN):c.45488T>C (p.Ile15163Thr) rs72646809
NM_133378.4(TTN):c.45803G>A (p.Arg15268His) rs373526624
NM_133378.4(TTN):c.45878-4A>G rs772324772
NM_133378.4(TTN):c.4630A>G (p.Ile1544Val) rs72647877
NM_133378.4(TTN):c.4668G>A (p.Pro1556=) rs145709534
NM_133378.4(TTN):c.47006T>C (p.Leu15669Pro) rs201412693
NM_133378.4(TTN):c.47114C>T (p.Pro15705Leu) rs201035511
NM_133378.4(TTN):c.47151G>A (p.Thr15717=) rs200410212
NM_133378.4(TTN):c.47325G>A (p.Arg15775=) rs62178963
NM_133378.4(TTN):c.4739C>T (p.Thr1580Met) rs73973147
NM_133378.4(TTN):c.47849A>G (p.Lys15950Arg) rs72646823
NM_133378.4(TTN):c.48221T>A (p.Leu16074Gln) rs140714512
NM_133378.4(TTN):c.48397A>G (p.Asn16133Asp) rs1001238
NM_133378.4(TTN):c.48699A>G (p.Gln16233=) rs553313488
NM_133378.4(TTN):c.49611T>C (p.His16537=) rs35833641
NM_133378.4(TTN):c.50522G>A (p.Arg16841His) rs201505306
NM_133378.4(TTN):c.50715A>G (p.Gln16905=) rs186563991
NM_133378.4(TTN):c.50732G>A (p.Arg16911His) rs2288569
NM_133378.4(TTN):c.50872G>A (p.Val16958Ile) rs377682563
NM_133378.4(TTN):c.51229C>T (p.Leu17077=) rs2303836
NM_133378.4(TTN):c.51461T>C (p.Val17154Ala) rs116592778
NM_133378.4(TTN):c.51615G>A (p.Glu17205=) rs367622770
NM_133378.4(TTN):c.51618A>G (p.Pro17206=) rs188063446
NM_133378.4(TTN):c.51881C>T (p.Pro17294Leu) rs16866406
NM_133378.4(TTN):c.5198C>T (p.Thr1733Met) rs367700246
NM_133378.4(TTN):c.52131C>T (p.Asn17377=) rs72646842
NM_133378.4(TTN):c.53017G>C (p.Glu17673Gln) rs200212521
NM_133378.4(TTN):c.53541A>G (p.Thr17847=) rs2163009
NM_133378.4(TTN):c.54218G>A (p.Arg18073Gln) rs199895260
NM_133378.4(TTN):c.542G>A (p.Ser181Asn) rs72647843
NM_133378.4(TTN):c.54354T>C (p.Tyr18118=) rs1560221
NM_133378.4(TTN):c.54576T>C (p.Val18192=) rs372065796
NM_133378.4(TTN):c.5479G>T (p.Ala1827Ser) rs141213991
NM_133378.4(TTN):c.54868A>G (p.Thr18290Ala) rs200689750
NM_133378.4(TTN):c.55290C>T (p.Tyr18430=) rs375006117
NM_133378.4(TTN):c.55319C>T (p.Thr18440Ile) rs72646850
NM_133378.4(TTN):c.55648C>T (p.Arg18550Trp) rs200726948
NM_133378.4(TTN):c.55885A>G (p.Ile18629Val) rs72646855
NM_133378.4(TTN):c.56172C>T (p.Asn18724=) rs199598302
NM_133378.4(TTN):c.56328C>T (p.Asn18776=) rs72646857
NM_133378.4(TTN):c.56504C>T (p.Thr18835Ile) rs2042996
NM_133378.4(TTN):c.5668C>T (p.Arg1890Cys) rs146496197
NM_133378.4(TTN):c.57388C>T (p.Arg19130Cys) rs72646861
NM_133378.4(TTN):c.57443C>T (p.Ser19148Leu) rs13021201
NM_133378.4(TTN):c.57469G>A (p.Val19157Ile) rs368716894
NM_133378.4(TTN):c.57755C>T (p.Thr19252Ile) rs56130023
NM_133378.4(TTN):c.57812C>T (p.Ala19271Val) rs55948748
NM_133378.4(TTN):c.57978A>G (p.Thr19326=) rs4894029
NM_133378.4(TTN):c.58039C>A (p.Gln19347Lys) rs62618736
NM_133378.4(TTN):c.58456+15C>T rs377288086
NM_133378.4(TTN):c.58910G>A (p.Arg19637Lys) rs72646869
NM_133378.4(TTN):c.58998C>T (p.Ala19666=) rs371802557
NM_133378.4(TTN):c.59194G>A (p.Val19732Ile) rs200343420
NM_133378.4(TTN):c.59371G>A (p.Val19791Ile) rs2303838
NM_133378.4(TTN):c.59395T>C (p.Ser19799Pro) rs72646873
NM_133378.4(TTN):c.59542G>C (p.Ala19848Pro) rs4145333
NM_133378.4(TTN):c.59931T>C (p.Val19977=) rs2288570
NM_133378.4(TTN):c.60513T>C (p.His20171=) rs10497517
NM_133378.4(TTN):c.60687G>A (p.Pro20229=) rs368985748
NM_133378.4(TTN):c.60733G>A (p.Glu20245Lys) rs200797552
NM_133378.4(TTN):c.61441A>G (p.Ile20481Val) rs72646881
NM_133378.4(TTN):c.61527T>C (p.Leu20509=) rs12615797
NM_133378.4(TTN):c.61881C>T (p.Ser20627=) rs67041405
NM_133378.4(TTN):c.62427A>G (p.Thr20809=) rs369503828
NM_133378.4(TTN):c.62992G>C (p.Gly20998Arg) rs55801134
NM_133378.4(TTN):c.63126C>T (p.Ser21042=) rs12464787
NM_133378.4(TTN):c.63128C>T (p.Ala21043Val) rs72646891
NM_133378.4(TTN):c.63203G>A (p.Arg21068His) rs56071233
NM_133378.4(TTN):c.63354G>A (p.Ala21118=) rs375183437
NM_133378.4(TTN):c.63665G>A (p.Arg21222His) rs55677134
NM_133378.4(TTN):c.63669T>G (p.Leu21223=) rs56245285
NM_133378.4(TTN):c.64001T>C (p.Ile21334Thr) rs55837610
NM_133378.4(TTN):c.64179T>C (p.Val21393=) rs368692510
NM_133378.4(TTN):c.64289G>A (p.Arg21430His) rs10164753
NM_133378.4(TTN):c.64409C>T (p.Thr21470Met) rs370375696
NM_133378.4(TTN):c.64442T>C (p.Leu21481Pro) rs56399205
NM_133378.4(TTN):c.65078G>A (p.Arg21693Gln) rs142874389
NM_133378.4(TTN):c.6508+15T>C rs747722195
NM_133378.4(TTN):c.65464A>G (p.Thr21822Ala) rs182491843
NM_133378.4(TTN):c.65900C>A (p.Ser21967Tyr) rs201804005
NM_133378.4(TTN):c.66845A>G (p.Asp22282Gly) rs573415766
NM_133378.4(TTN):c.67135C>T (p.Arg22379Cys) rs744426
NM_133378.4(TTN):c.67268T>C (p.Ile22423Thr) rs744427
NM_133378.4(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974
NM_133378.4(TTN):c.67818A>C (p.Ala22606=) rs6732060
NM_133378.4(TTN):c.68265T>C (p.Val22755=) rs368759398
NM_133378.4(TTN):c.68639G>A (p.Ser22880Asn) rs3813243
NM_133378.4(TTN):c.68970T>C (p.Asp22990=) rs375553630
NM_133378.4(TTN):c.69016T>C (p.Tyr23006His) rs3813245
NM_133378.4(TTN):c.69575A>G (p.Asn23192Ser) rs3813246
NM_133378.4(TTN):c.69934A>G (p.Thr23312Ala) rs56018860
NM_133378.4(TTN):c.70012G>A (p.Glu23338Lys) rs56341835
NM_133378.4(TTN):c.70970T>C (p.Ile23657Thr) rs12463674
NM_133378.4(TTN):c.71151T>C (p.Asp23717=) rs139953862
NM_133378.4(TTN):c.71202A>C (p.Glu23734Asp) rs534003014
NM_133378.4(TTN):c.71358T>A (p.Gly23786=) rs3731744
NM_133378.4(TTN):c.71451G>A (p.Val23817=) rs377618488
NM_133378.4(TTN):c.71522G>A (p.Arg23841His) rs72648206
NM_133378.4(TTN):c.71561T>C (p.Ile23854Thr) rs3731745
NM_133378.4(TTN):c.7174G>A (p.Gly2392Ser) rs4894048
NM_133378.4(TTN):c.72158C>T (p.Thr24053Met) rs3731746
NM_133378.4(TTN):c.72441C>G (p.Val24147=) rs761074887
NM_133378.4(TTN):c.72567C>T (p.Val24189=) rs199875474
NM_133378.4(TTN):c.72849C>T (p.Phe24283=) rs189790119
NM_133378.4(TTN):c.72882C>T (p.Ser24294=) rs748292845
NM_133378.4(TTN):c.72931C>A (p.Gln24311Lys) rs79926414
NM_133378.4(TTN):c.72997A>G (p.Ile24333Val) rs201562505
NM_133378.4(TTN):c.72C>G (p.Thr24=) rs876657615
NM_133378.4(TTN):c.73095C>A (p.Thr24365=) rs3813247
NM_133378.4(TTN):c.73154C>T (p.Thr24385Met) rs377506142
NM_133378.4(TTN):c.73240T>C (p.Phe24414Leu) rs200406978
NM_133378.4(TTN):c.74151C>T (p.Ile24717=) rs56214710
NM_133378.4(TTN):c.74377C>G (p.Pro24793Ala) rs56137800
NM_133378.4(TTN):c.74531C>A (p.Thr24844Lys) rs201489661
NM_133378.4(TTN):c.74698A>C (p.Lys24900Gln) rs201958805
NM_133378.4(TTN):c.74793C>T (p.Thr24931=) rs199629314
NM_133378.4(TTN):c.74856C>A (p.Asn24952Lys) rs56264840
NM_133378.4(TTN):c.74984G>A (p.Arg24995His) rs118079537
NM_133378.4(TTN):c.75036G>A (p.Thr25012=) rs56345408
NM_133378.4(TTN):c.75094G>A (p.Ala25032Thr) rs11896637
NM_133378.4(TTN):c.75106G>A (p.Gly25036Ser) rs199929362
NM_133378.4(TTN):c.75359G>A (p.Arg25120His) rs185002960
NM_133378.4(TTN):c.7545C>T (p.Tyr2515=) rs2291306
NM_133378.4(TTN):c.75619A>G (p.Ile25207Val) rs3829746
NM_133378.4(TTN):c.75969T>C (p.Gly25323=) rs2366751
NM_133378.4(TTN):c.7619G>A (p.Arg2540His) rs397517725
NM_133378.4(TTN):c.76444A>G (p.Ile25482Val) rs201348580
NM_133378.4(TTN):c.76701T>C (p.Tyr25567=) rs756176112
NM_133378.4(TTN):c.76749A>G (p.Pro25583=) rs73036373
NM_133378.4(TTN):c.76992A>C (p.Glu25664Asp) rs397517730
NM_133378.4(TTN):c.77167C>T (p.Arg25723Cys) rs192152102
NM_133378.4(TTN):c.77273G>A (p.Arg25758Gln) rs200843338
NM_133378.4(TTN):c.78954G>A (p.Glu26318=) rs760858743
NM_133378.4(TTN):c.78979G>A (p.Val26327Met) rs201290358
NM_133378.4(TTN):c.79107A>G (p.Val26369=) rs55972010
NM_133378.4(TTN):c.79231G>A (p.Val26411Ile) rs201687390
NM_133378.4(TTN):c.79383T>C (p.Leu26461=) rs12621078
NM_133378.4(TTN):c.79433T>G (p.Met26478Arg) rs143975327
NM_133378.4(TTN):c.80104G>A (p.Val26702Ile) rs141624266
NM_133378.4(TTN):c.80173C>T (p.Arg26725Cys) rs191482653
NM_133378.4(TTN):c.80430A>G (p.Pro26810=) rs374612925
NM_133378.4(TTN):c.80483T>C (p.Ile26828Thr) rs9808377
NM_133378.4(TTN):c.80568G>A (p.Glu26856=) rs9808036
NM_133378.4(TTN):c.80690C>T (p.Ser26897Phe) rs146181116
NM_133378.4(TTN):c.81154C>T (p.Leu27052=) rs115070904
NM_133378.4(TTN):c.81613A>T (p.Ile27205Leu) rs77853750
NM_133378.4(TTN):c.81682G>A (p.Val27228Met) rs72648237
NM_133378.4(TTN):c.82832G>A (p.Arg27611His) rs149567378
NM_133378.4(TTN):c.83122T>G (p.Cys27708Gly) rs150430592
NM_133378.4(TTN):c.83264G>A (p.Arg27755Lys) rs11887722
NM_133378.4(TTN):c.83367T>G (p.Thr27789=) rs11897366
NM_133378.4(TTN):c.83917G>A (p.Gly27973Arg) rs200854704
NM_133378.4(TTN):c.84148+8T>A rs56145100
NM_133378.4(TTN):c.84305T>C (p.Ile28102Thr) rs369342933
NM_133378.4(TTN):c.84427G>A (p.Val28143Met) rs747122
NM_133378.4(TTN):c.84472C>T (p.Pro28158Ser) rs72648247
NM_133378.4(TTN):c.84487A>G (p.Ile28163Val) rs16866391
NM_133378.4(TTN):c.85102G>A (p.Val28368Ile) rs200476500
NM_133378.4(TTN):c.85197C>T (p.Ser28399=) rs11694623
NM_133378.4(TTN):c.85539C>T (p.Ala28513=) rs3731748
NM_133378.4(TTN):c.85683C>T (p.Ser28561=) rs35445420
NM_133378.4(TTN):c.86197G>A (p.Val28733Ile) rs67665715
NM_133378.4(TTN):c.87312T>C (p.Thr29104=) rs367549998
NM_133378.4(TTN):c.87343A>G (p.Ser29115Gly) rs72648257
NM_133378.4(TTN):c.87374C>A (p.Ala29125Asp) rs2288326
NM_133378.4(TTN):c.87492G>A (p.Pro29164=) rs752309744
NM_133378.4(TTN):c.87555C>T (p.Leu29185=) rs72648258
NM_133378.4(TTN):c.87849C>T (p.Ser29283=) rs72648260
NM_133378.4(TTN):c.87851T>C (p.Leu29284Pro) rs62621206
NM_133378.4(TTN):c.87949G>A (p.Ala29317Thr) rs72648263
NM_133378.4(TTN):c.88454T>C (p.Ile29485Thr) rs62621236
NM_133378.4(TTN):c.88469G>A (p.Arg29490Gln) rs374063064
NM_133378.4(TTN):c.88530C>T (p.Tyr29510=) rs376532382
NM_133378.4(TTN):c.88548A>G (p.Thr29516=) rs369626133
NM_133378.4(TTN):c.8919C>G (p.Ser2973=) rs4894045
NM_133378.4(TTN):c.89240C>T (p.Thr29747Ile) rs56027402
NM_133378.4(TTN):c.89909G>A (p.Arg29970His) rs3731749
NM_133378.4(TTN):c.90038G>T (p.Gly30013Val) rs397517771
NM_133378.4(TTN):c.90056G>A (p.Arg30019His) rs55704830
NM_133378.4(TTN):c.90056G>C (p.Arg30019Pro) rs55704830
NM_133378.4(TTN):c.90091+6G>T rs3731750
NM_133378.4(TTN):c.90155C>T (p.Ala30052Val) rs397517772
NM_133378.4(TTN):c.90394+9T>A rs2288325
NM_133378.4(TTN):c.90460A>T (p.Ile30154Phe) rs72648270
NM_133378.4(TTN):c.90538C>T (p.Arg30180Cys) rs72648272
NM_133378.4(TTN):c.90563C>T (p.Thr30188Ile) rs199805060
NM_133378.4(TTN):c.90590C>G (p.Ala30197Gly) rs72648273
NM_133378.4(TTN):c.90852T>C (p.Gly30284=) rs373853269
NM_133378.4(TTN):c.90891A>G (p.Glu30297=) rs55977045
NM_133378.4(TTN):c.90937C>T (p.Pro30313Ser) rs367979582
NM_133378.4(TTN):c.91208G>A (p.Arg30403His) rs4894028
NM_133378.4(TTN):c.91285+12A>C rs72648275
NM_133378.4(TTN):c.91711A>G (p.Lys30571Glu) rs779723670
NM_133378.4(TTN):c.91863C>T (p.Leu30621=) rs745708104
NM_133378.4(TTN):c.92392G>A (p.Val30798Ile) rs55675869
NM_133378.4(TTN):c.92522G>A (p.Cys30841Tyr) rs201112096
NM_133378.4(TTN):c.92755C>T (p.Pro30919Ser) rs72629779
NM_133378.4(TTN):c.92875G>A (p.Val30959Ile) rs2278196
NM_133378.4(TTN):c.9338G>A (p.Arg3113His) rs141258018
NM_133378.4(TTN):c.93508C>T (p.Arg31170Cys) rs56273463
NM_133378.4(TTN):c.93587C>T (p.Ala31196Val) rs773542514
NM_133378.4(TTN):c.9359G>A (p.Arg3120Gln) rs72647894
NM_133378.4(TTN):c.94099A>G (p.Ile31367Val) rs56376197
NM_133378.4(TTN):c.94452G>T (p.Arg31484=) rs376894729
NM_133378.4(TTN):c.94486G>A (p.Ala31496Thr) rs200237973
NM_133378.4(TTN):c.9461A>G (p.Lys3154Arg) rs4893853
NM_133378.4(TTN):c.94815C>T (p.Gly31605=) rs2857265
NM_133378.4(TTN):c.95129G>T (p.Gly31710Val) rs3731752
NM_133378.4(TTN):c.95280C>T (p.Asp31760=) rs541125667
NM_133378.4(TTN):c.95349C>T (p.Thr31783=) rs3731753
NM_133378.4(TTN):c.96077G>A (p.Arg32026His) rs3829747
NM_133378.4(TTN):c.96209G>A (p.Arg32070His) rs371528685
NM_133378.4(TTN):c.96573G>A (p.Lys32191=) rs377391143
NM_133378.4(TTN):c.96673A>C (p.Met32225Leu) rs72629787
NM_133378.4(TTN):c.96872G>A (p.Arg32291Gln) rs68080670
NM_133378.4(TTN):c.97284C>T (p.Val32428=) rs3829748
NM_133378.4(TTN):c.97479G>A (p.Ala32493=) rs371075036
NM_133378.4(TTN):c.97679C>T (p.Ala32560Val) rs758458467
NM_133378.4(TTN):c.97680A>G (p.Ala32560=) rs3813250
NM_133378.4(TTN):c.97702C>T (p.Arg32568Trp) rs372875128
NM_133378.4(TTN):c.9781G>A (p.Val3261Met) rs2291311
NM_133378.4(TTN):c.97825G>A (p.Val32609Met) rs55865284
NM_133378.4(TTN):c.97878C>T (p.Ser32626=) rs3829749
NM_133378.4(TTN):c.98078C>T (p.Pro32693Leu) rs16866380
NM_133378.4(TTN):c.982C>T (p.Arg328Cys) rs16866538
NM_133378.4(TTN):c.98316T>C (p.Gly32772=) rs148865574
NM_133378.4(TTN):c.98571G>C (p.Gly32857=) rs56207956
NM_133378.4(TTN):c.9879A>G (p.Glu3293=) rs4894043
NM_133378.4(TTN):c.98876A>T (p.Glu32959Val) rs55725279
NM_133378.4(TTN):c.98915T>C (p.Ile32972Thr) rs55880440
NM_133378.4(TTN):c.98971G>C (p.Glu32991Gln) rs199632397
NM_133378.4(TTN):c.99083C>T (p.Thr33028Ile) rs55842557
NM_133378.4(TTN):c.99563T>C (p.Val33188Ala) rs16866378
NM_133378.4(TTN):c.99673+14C>T rs367908657
NM_133379.4(TTN):c.*265+108696C>T rs72650077
NM_133379.4(TTN):c.*265+110089A>G rs186699871
NM_133379.4(TTN):c.*265+110695C>T rs76815324
NM_133379.4(TTN):c.*265+120028C>T rs55973744
NM_133379.4(TTN):c.*265+187761G>T rs201770959
NM_133379.4(TTN):c.*265+198852C>T rs373871146
NM_133379.4(TTN):c.*265+212679C>T rs199714102
NM_133379.4(TTN):c.*265+213933G>A rs55938627
NM_133379.4(TTN):c.*265+217591C>T rs371480338
NM_133379.4(TTN):c.*265+26591C>T rs113391261
NM_133379.4(TTN):c.*265+33192T>C rs143368674
NM_133379.4(TTN):c.*265+69411C>A rs74930148
NM_133379.4(TTN):c.16001C>T (p.Pro5334Leu) rs151253841
Single allele
TTN:c.100094G>A (p.Arg33365Gln) rs55742743
TTN:c.1003G>A (p.Val335Met) rs72647846
TTN:c.101766G>C (p.Gln33922His) rs55886356
TTN:c.105180G>C (p.Glu35060Asp) rs56308529
TTN:c.15792T>C (p.Ile5264=) rs12993099
TTN:c.18903C>T (p.Thr6301=) rs72648950
TTN:c.19204A>G (p.Met6402Val) rs72648954
TTN:c.22384G>C (p.Asp7462His) rs12693166
TTN:c.2244G>A (p.Glu748=) rs6715406
TTN:c.2270C>T (p.Pro757Leu) rs116307796
TTN:c.24431A>C (p.Glu8144Ala) rs16866465
TTN:c.25064C>A (p.Ala8355Glu) rs2627043
TTN:c.25274G>A (p.Ser8425Asn) rs13390491
TTN:c.2781A>C (p.Thr927=) rs55892860
TTN:c.28313G>A (p.Arg9438Gln) rs72648998
TTN:c.2949C>T (p.Ile983=) rs56310516
TTN:c.3087T>C (p.Tyr1029=) rs55863869
TTN:c.32254G>A (p.Val10752Ile) rs72650028
TTN:c.3668C>T (p.Ala1223Val) rs78269740
TTN:c.3759A>G (p.Arg1253=) rs2291308
TTN:c.3993C>T (p.Ile1331=) rs55757622
TTN:c.4246C>T (p.Arg1416Cys) rs72647875
TTN:c.4347A>G (p.Ser1449=) rs719202
TTN:c.4715G>A (p.Arg1572Gln) rs12476289
TTN:c.6353T>C (p.Ile2118Thr) rs56404770
TTN:c.7830G>C (p.Met2610Ile) rs56142888
TTN:c.81958G>A (p.Ala27320Thr) rs56365600
TTN:c.82385C>A (p.Thr27462Lys) rs55933739
TTN:c.83056G>A (p.Val27686Ile) rs56309296
TTN:c.84352C>T (p.Arg28118Cys) rs56057221
TTN:c.8492G>A (p.Ser2831Asn) rs2306636
TTN:c.87669T>C (p.His29223=) rs72648229
TTN:c.95035G>A (p.Asp31679Asn) rs116567963
TTN:c.9597A>G (p.Glu3199=) rs2291312

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