ClinVar Miner

Variants with conflicting interpretations studied for Dilated Cardiomyopathy, Dominant

Coded as:
Minimum review status of the submission for Dilated Cardiomyopathy, Dominant: Y axis collection method of the submission for Dilated Cardiomyopathy, Dominant:
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
226 1240 2 466 618 1 11 1062

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
Dilated Cardiomyopathy, Dominant pathogenic likely pathogenic uncertain significance likely benign benign risk factor
uncertain significance 4 3 2 501 311 0
likely benign 2 3 43 0 459 1
benign 0 0 0 9 0 0

Condition to condition summary #

Total conditions: 64
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 0 167 0 455 519 0 0 966
Cardiovascular phenotype 0 131 0 337 203 0 1 541
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 0 126 0 149 273 0 0 422
Cardiomyopathy 0 86 1 167 147 0 0 313
not provided 0 264 0 73 119 0 2 192
Hypertrophic cardiomyopathy 0 1457 0 30 21 0 1 52
Familial hypertrophic cardiomyopathy 14 0 11 0 19 25 0 0 44
Arrhythmia 0 0 0 12 12 0 0 24
Brugada syndrome 0 82 0 7 17 0 0 24
Dilated cardiomyopathy 1DD 0 6 0 9 15 0 0 24
Dilated cardiomyopathy 1W 0 6 0 6 14 0 0 20
Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 0 4 0 5 12 0 0 17
Familial hypertrophic cardiomyopathy 4 0 2 0 12 1 0 2 15
Arrhythmogenic right ventricular cardiomyopathy, type 10 0 5 0 5 8 0 0 13
Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 0 8 0 8 5 0 0 13
Loeys-Dietz syndrome 2 0 4 0 9 3 0 0 12
Primary familial hypertrophic cardiomyopathy 0 10 0 4 7 0 2 12
Dilated cardiomyopathy 1AA 0 1 0 3 7 0 0 10
Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 0 3 0 7 2 0 0 9
Dilated cardiomyopathy 1O 0 0 0 3 5 0 0 8
Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 0 3 0 1 5 0 0 6
Myofibrillar myopathy, ZASP-related 0 20 0 4 2 0 0 6
Charcot-Marie-Tooth disease, type 2 0 25 0 5 0 0 0 5
Dilated Cardiomyopathy, Dominant 2517 6 0 2 3 0 0 5
Familial hypertrophic cardiomyopathy 1 0 4 0 2 1 0 2 5
Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 0 3 0 3 2 0 0 5
Alzheimer disease, type 4 0 0 0 4 0 0 0 4
Left ventricular noncompaction cardiomyopathy 0 281 0 1 3 0 0 4
Limb-girdle muscular dystrophy, type 2F 0 4 0 4 0 0 0 4
Total anomalous pulmonary venous return 0 0 0 1 4 0 0 4
ANKRD1-related dilated cardiomyopathy 0 2 0 1 2 0 0 3
Dilated cardiomyopathy 0 1 0 0 2 0 1 3
Dilated cardiomyopathy 1J 0 1 0 0 3 0 0 3
Familial hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 0 1 0 1 2 0 0 3
Familial hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M 0 1 0 2 1 0 0 3
Myopathy, distal, 1 0 90 0 3 0 0 0 3
Primary dilated cardiomyopathy 0 5 0 3 0 0 0 3
Alzheimer disease, type 3; Frontotemporal dementia; Pick's disease; Acne inversa, familial, 3 0 0 0 2 0 0 0 2
Alzheimer's disease 0 0 0 2 0 0 0 2
Atrial septal defect 0 195 0 1 1 0 0 2
Cardiac arrhythmia 0 0 1 1 0 0 0 2
Dilated cardiomyopathy 1T 0 0 0 1 1 0 0 2
Dilated cardiomyopathy 1Z; Familial hypertrophic cardiomyopathy 13 0 1 0 0 2 0 0 2
Limb-girdle muscular dystrophy, type 2J 0 2 0 0 0 0 2 2
Atrial septal defect 3 0 0 0 0 1 0 0 1
Congenital diaphragmatic hernia 0 0 0 0 1 0 0 1
Dilated cardiomyopathy 1A 0 1 0 0 1 0 0 1
Dilated cardiomyopathy 1EE 0 0 0 0 1 0 0 1
Dilated cardiomyopathy 1N; Primary familial hypertrophic cardiomyopathy 0 0 0 0 1 0 0 1
Distal myopathy Markesbery-Griggs type 0 948 0 0 1 0 0 1
Familial dilated cardiomyopathy 0 1 0 1 0 0 0 1
Familial restrictive cardiomyopathy 0 101 0 0 1 0 0 1
Hereditary myopathy with early respiratory failure 0 948 0 0 1 0 0 1
Inborn genetic diseases 0 4 0 0 1 0 0 1
Increased left ventricular wall thickness 0 0 0 0 1 0 0 1
Limb-girdle muscular dystrophy 0 0 0 0 0 0 1 1
Long QT syndrome 3 0 0 0 1 0 0 0 1
Long qt syndrome 3, acquired, susceptibility to 0 0 0 0 0 1 0 1
MYBPC3-Related Disorders 0 0 0 0 0 0 1 1
Myofibrillar myopathy 0 0 0 0 0 0 1 1
Myofibrillar myopathy, BAG3-related 0 3 0 1 0 0 0 1
Myosin storage myopathy 0 91 0 1 0 0 0 1
SUDDEN INFANT DEATH SYNDROME 0 0 0 0 0 0 1 1
Scapuloperoneal myopathy 0 91 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 1062
Download table as spreadsheet
HGVS dbSNP
NM_000021.3(PSEN1):c.-296C>T rs1800839
NM_000021.3(PSEN1):c.1017A>G (p.Glu339=) rs201776669
NM_000021.3(PSEN1):c.953A>G (p.Glu318Gly) rs17125721
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.1720C>A (p.Arg574=) rs61897383
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=) rs397515929
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val) rs3729952
NM_000256.3(MYBPC3):c.2547C>T (p.Val849=) rs3729953
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097
NM_000256.3(MYBPC3):c.2737+12C>T rs3729936
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253
NM_000256.3(MYBPC3):c.3191-7C>T rs373012629
NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=) rs1052373
NM_000256.3(MYBPC3):c.332C>T (p.Ala111Val) rs730880530
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp) rs727503171
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=) rs200162906
NM_000256.3(MYBPC3):c.3741C>T (p.Asp1247=) rs543376073
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001
NM_000256.3(MYBPC3):c.472G>A (p.Val158Met) rs3729986
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=) rs397516054
NM_000256.3(MYBPC3):c.506-12delC rs11570050
NM_000256.3(MYBPC3):c.537C>T (p.Ala179=) rs11570051
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989
NM_000256.3(MYBPC3):c.786C>T (p.Thr262=) rs11570058
NM_000256.3(MYBPC3):c.927-10C>T rs201078659
NM_000257.2(MYH7):c.4908C>T (p.Ala1636=) rs150241539
NM_000257.3(MYH7):c.*113G>A rs17794387
NM_000257.3(MYH7):c.*20G>A rs45548631
NM_000257.3(MYH7):c.1000-7C>T rs200129563
NM_000257.3(MYH7):c.1191G>A (p.Lys397=) rs139506719
NM_000257.3(MYH7):c.153C>T (p.Ile51=) rs373145667
NM_000257.3(MYH7):c.1749C>T (p.Ala583=) rs758665829
NM_000257.3(MYH7):c.1983C>T (p.Asn661=) rs146474860
NM_000257.3(MYH7):c.2028T>C (p.Asn676=) rs145564868
NM_000257.3(MYH7):c.2349C>T (p.Arg783=) rs139882431
NM_000257.3(MYH7):c.2526T>C (p.Ser842=) rs554560162
NM_000257.3(MYH7):c.2692C>T (p.Leu898=) rs727504407
NM_000257.3(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.3(MYH7):c.3235C>T (p.Arg1079Trp) rs192722540
NM_000257.3(MYH7):c.3564T>C (p.Thr1188=) rs45587932
NM_000257.3(MYH7):c.3621C>T (p.Ile1207=) rs529700838
NM_000257.3(MYH7):c.3972+15C>T rs3729820
NM_000257.3(MYH7):c.4158C>T (p.Leu1386=) rs886050418
NM_000257.3(MYH7):c.4188G>A (p.Arg1396=) rs200852418
NM_000257.3(MYH7):c.4239G>A (p.Ser1413=) rs3729821
NM_000257.3(MYH7):c.4659C>T (p.His1553=) rs570079347
NM_000257.3(MYH7):c.4806C>T (p.Asp1602=) rs142034311
NM_000257.3(MYH7):c.540C>A (p.Ser180=) rs369490861
NM_000257.3(MYH7):c.5718A>C (p.Ala1906=) rs45523233
NM_000257.3(MYH7):c.895+12C>A rs186276057
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712
NM_000257.4(MYH7):c.1119G>A (p.Ala373=) rs572672362
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) rs138294643
NM_000257.4(MYH7):c.3337-3dup rs45504498
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000257.4(MYH7):c.3853+7C>T rs45467397
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=) rs144420313
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700
NM_000257.4(MYH7):c.5394C>T (p.Asp1798=) rs777053791
NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln) rs187073962
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124
NM_000335.4(SCN5A):c.2436+12G>A rs41312419
NM_000335.4(SCN5A):c.4845C>T (p.Phe1615=) rs41315495
NM_000335.4(SCN5A):c.5841C>T (p.Ile1947=) rs13324293
NM_000337.5(SGCD):c.-179A>G rs77808502
NM_000337.5(SGCD):c.-303A>T rs7725121
NM_000337.5(SGCD):c.-30G>A rs374043017
NM_000337.5(SGCD):c.15G>C (p.Glu5Asp) rs549319429
NM_000337.5(SGCD):c.213G>A (p.Arg71=) rs74846539
NM_000337.5(SGCD):c.290G>A (p.Arg97Gln) rs45559835
NM_000337.5(SGCD):c.294+8T>C rs11748588
NM_000337.5(SGCD):c.507G>A (p.Ala169=) rs10071079
NM_000337.5(SGCD):c.510G>A (p.Glu170=) rs368838376
NM_000337.5(SGCD):c.848A>G (p.Gln283Arg) rs397516338
NM_000364.3(TNNT2):c.294+7G>A rs45490292
NM_000366.5(TPM1):c.845C>G (p.Thr282Ser) rs397516395
NM_000447.2(PSEN2):c.129C>T (p.Asn43=) rs6759
NM_000447.2(PSEN2):c.185G>A (p.Arg62His) rs58973334
NM_000447.2(PSEN2):c.261C>T (p.His87=) rs1046240
NM_000447.2(PSEN2):c.441C>T (p.Ser147=) rs114334281
NM_000447.2(PSEN2):c.69T>C (p.Ala23=) rs11405
NM_000447.2(PSEN2):c.708T>C (p.Ser236=) rs61730652
NM_000447.2(PSEN2):c.756G>C (p.Ala252=) rs147702142
NM_000447.2(PSEN2):c.903G>T (p.Thr301=) rs6426553
NM_000447.2(PSEN2):c.954C>T (p.Pro318=) rs199587016
NM_000739.2(CHRM2):c.691G>A (p.Val231Ile) rs76394680
NM_000739.2(CHRM2):c.703C>A (p.Leu235Met) rs138886480
NM_000739.2(CHRM2):c.773A>G (p.Asn258Ser) rs142006633
NM_000739.2(CHRM2):c.860C>G (p.Thr287Ser) rs138193709
NM_001001430.1(TNNT2):c.53-11_53-7delCTTCT rs45533739
NM_001001430.2(TNNT2):c.133+12G>A rs45580032
NM_001001430.2(TNNT2):c.207G>A (p.Ser69=) rs3729845
NM_001001430.2(TNNT2):c.240C>G (p.Pro80=) rs140245123
NM_001001430.2(TNNT2):c.318C>T (p.Ile106=) rs3729547
NM_001001430.2(TNNT2):c.444G>C (p.Arg148=) rs35914325
NM_001001430.2(TNNT2):c.52+7G>A rs374443596
NM_001001430.2(TNNT2):c.662T>C (p.Ile221Thr) rs45520032
NM_001001430.2(TNNT2):c.690-5T>G rs730881092
NM_001001430.2(TNNT2):c.758A>G (p.Lys253Arg) rs3730238
NM_001018005.1(TPM1):c.27G>A (p.Gln9=) rs397516365
NM_001018005.1(TPM1):c.453C>A (p.Ala151=) rs1071646
NM_001018005.1(TPM1):c.486T>C (p.Tyr162=) rs11558747
NM_001018005.1(TPM1):c.522C>T (p.Ser174=) rs200173919
NM_001018005.1(TPM1):c.564-11G>A rs532254032
NM_001080114.1(LDB3):c.345-15G>A rs113445294
NM_001080114.1(LDB3):c.504T>C (p.Asp168=) rs76615432
NM_001080114.1(LDB3):c.546T>C (p.Ser182=) rs71473272
NM_001080116.1(LDB3):c.163G>A (p.Val55Ile) rs3740343
NM_001080116.1(LDB3):c.302C>T (p.Pro101Leu) rs45592139
NM_001080116.1(LDB3):c.322-14C>T rs754704023
NM_001080116.1(LDB3):c.456G>A (p.Ala152=) rs371708921
NM_001080116.1(LDB3):c.456G>T (p.Ala152=) rs371708921
NM_001080116.1(LDB3):c.548+7G>A rs754174632
NM_001080116.1(LDB3):c.611A>G (p.Lys204Arg) rs34423165
NM_001103.3(ACTN2):c.-22C>T rs138279482
NM_001103.3(ACTN2):c.-3G>T rs201920417
NM_001103.3(ACTN2):c.1296G>A (p.Ala432=) rs35956798
NM_001103.3(ACTN2):c.1323G>A (p.Leu441=) rs886039127
NM_001103.3(ACTN2):c.1371C>T (p.Arg457=) rs114008185
NM_001103.3(ACTN2):c.1383C>T (p.Ile461=) rs34827377
NM_001103.3(ACTN2):c.1406+8C>T rs397516567
NM_001103.3(ACTN2):c.1423G>A (p.Asp475Asn) rs80257412
NM_001103.3(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.3(ACTN2):c.1452G>A (p.Gln484=) rs200529923
NM_001103.3(ACTN2):c.1810A>G (p.Met604Val) rs35997569
NM_001103.3(ACTN2):c.1864G>A (p.Asp622Asn) rs138452803
NM_001103.3(ACTN2):c.18C>A (p.Pro6=) rs368367224
NM_001103.3(ACTN2):c.2139G>A (p.Thr713Thr=) rs34975493
NM_001103.3(ACTN2):c.2568G>A (p.Pro856=) rs149554430
NM_001103.3(ACTN2):c.2601C>T (p.Pro867=) rs147245615
NM_001103.3(ACTN2):c.2610G>A (p.Ser870=) rs12063382
NM_001103.3(ACTN2):c.2649G>A (p.Ala883=) rs146426213
NM_001103.3(ACTN2):c.546T>C (p.Asp182=) rs34263845
NM_001103.3(ACTN2):c.705G>C (p.Val235=) rs2288599
NM_001103.3(ACTN2):c.777G>A (p.Ala259=) rs764583678
NM_001103.3(ACTN2):c.877-8C>G rs2288601
NM_001103.3(ACTN2):c.918C>T (p.Asn306=) rs148646265
NM_001103.3(ACTN2):c.947T>C (p.Met316Thr) rs370757762
NM_001134363.1(RBM20):c.2303G>C (p.Ser768=) rs1417635
NM_001134363.2(RBM20):c.1053C>T (p.Asp351=) rs192232825
NM_001134363.2(RBM20):c.1135G>A (p.Gly379Arg) rs199842148
NM_001134363.2(RBM20):c.1179C>T (p.Pro393=) rs200588338
NM_001134363.2(RBM20):c.128_130dupAGC (p.Gln43_Pro44insGln) rs397516593
NM_001134363.2(RBM20):c.1356A>T (p.Ile452=) rs745544964
NM_001134363.2(RBM20):c.1429+10G>T rs778742738
NM_001134363.2(RBM20):c.1527+8C>T rs7077757
NM_001134363.2(RBM20):c.1801-11G>C rs12572941
NM_001134363.2(RBM20):c.1914G>A (p.Pro638=) rs74339620
NM_001134363.2(RBM20):c.1986G>A (p.Pro662=) rs537723089
NM_001134363.2(RBM20):c.1992C>T (p.Pro664=) rs41292592
NM_001134363.2(RBM20):c.2145C>T (p.Pro715=) rs764304126
NM_001134363.2(RBM20):c.2213C>T (p.Pro738Leu) rs397516601
NM_001134363.2(RBM20):c.2244T>G (p.Ser748=) rs727503388
NM_001134363.2(RBM20):c.2655+15A>G rs187915202
NM_001134363.2(RBM20):c.3115C>T (p.Pro1039Ser) rs727503392
NM_001134363.2(RBM20):c.3144C>T (p.Ser1048=) rs75858380
NM_001134363.2(RBM20):c.3170G>A (p.Arg1057Gln) rs188054898
NM_001134363.2(RBM20):c.3452-10C>T rs60618533
NM_001134363.2(RBM20):c.3452-9G>C rs7070640
NM_001134363.2(RBM20):c.3648C>T (p.Ser1216=) rs554167951
NM_001134363.2(RBM20):c.3667G>C (p.Glu1223Gln) rs942077
NM_001134363.2(RBM20):c.448G>A (p.Ala150Thr) rs199868951
NM_001134363.2(RBM20):c.517C>A (p.Pro173Thr) rs7908490
NM_001134363.2(RBM20):c.680G>T (p.Gly227Val) rs202238753
NM_001134363.2(RBM20):c.695G>A (p.Gly232Asp) rs61735268
NM_001134363.2(RBM20):c.849C>T (p.Tyr283=) rs187423999
NM_001134363.2(RBM20):c.90G>A (p.Arg30=) rs35141404
NM_001134363.2(RBM20):c.954A>G (p.Gln318=) rs766779254
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
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.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.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.76635T>C (p.Asn25545=) rs56181243
NM_001256850.1(TTN):c.77015G>A (p.Gly25672Glu) rs199670463
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.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.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.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.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.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.97386C>T (p.Thr32462=) rs376810671
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=) rs138968178
NM_001330.3(CTF1):c.120C>T (p.Tyr40=) rs8059269
NM_001330.3(CTF1):c.144+7G>T rs374359365
NM_001330.3(CTF1):c.145-10G>A rs397516645
NM_001330.3(CTF1):c.591C>G (p.Pro197=) rs397516652
NM_001927.3(DES):c.-44G>A rs184826121
NM_001927.3(DES):c.1026C>T (p.Asn342=) rs61731508
NM_001927.3(DES):c.1375G>A (p.Val459Ile) rs73991549
NM_001927.3(DES):c.18G>A (p.Ser6=) rs199972656
NM_001927.3(DES):c.372G>A (p.Glu124=) rs34365369
NM_001927.3(DES):c.408C>T (p.Leu136=) rs111828114
NM_001927.3(DES):c.635G>A (p.Arg212Gln) rs144261171
NM_001927.3(DES):c.638C>T (p.Ala213Val) rs41272699
NM_001927.3(DES):c.665G>A (p.Arg222His) rs367961979
NM_001927.3(DES):c.792C>T (p.Asp264=) rs150370918
NM_001927.3(DES):c.897+4_897+5delGG rs397516699
NM_001927.3(DES):c.924C>T (p.Asn308=) rs578191306
NM_001943.3(DSG2):c.2234C>T (p.Thr745Met) rs727504783
NM_001943.3(DSG2):c.437G>T (p.Arg146Leu) rs113451409
NM_001943.4(DSG2):c.1280+10_1280+11delAG rs876657791
NM_001943.4(DSG2):c.147C>T (p.Arg49=) rs531036279
NM_001943.4(DSG2):c.1543G>A (p.Val515Ile) rs2230235
NM_001943.4(DSG2):c.15G>C (p.Pro5=) rs772663614
NM_001943.4(DSG2):c.1914A>G (p.Gly638=) rs200395484
NM_001943.4(DSG2):c.217-5G>T rs80073511
NM_001943.4(DSG2):c.2318G>A (p.Arg773Lys) rs2278792
NM_001943.4(DSG2):c.2505A>G (p.Thr835=) rs1042769
NM_001943.4(DSG2):c.2587A>C (p.Met863Leu) rs16962093
NM_001943.4(DSG2):c.3209C>T (p.Thr1070Met) rs149617776
NM_001943.4(DSG2):c.3243C>T (p.Val1081=) rs11542379
NM_001943.4(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489
NM_001943.4(DSG2):c.3321T>C (p.Val1107=) rs1791235
NM_001943.4(DSG2):c.524-9T>A rs11876289
NM_001943.4(DSG2):c.6G>A (p.Ala2=) rs368809971
NM_001943.4(DSG2):c.706A>G (p.Thr236Ala) rs727502985
NM_001943.4(DSG2):c.852T>C (p.Asn284=) rs62095193
NM_001943.4(DSG2):c.861C>T (p.Asn287=) rs2230233
NM_001943.4(DSG2):c.877A>G (p.Ile293Val) rs2230234
NM_001943.4(DSG2):c.990C>T (p.Asn330=) rs140575919
NM_002471.3(MYH6):c.-5C>A rs183611755
NM_002471.3(MYH6):c.-64G>C rs79618123
NM_002471.3(MYH6):c.-8G>A rs28730779
NM_002471.3(MYH6):c.1071C>T (p.Ile357=) rs58131640
NM_002471.3(MYH6):c.1122G>A (p.Ala374=) rs148091079
NM_002471.3(MYH6):c.1131C>T (p.Asp377=) rs61742472
NM_002471.3(MYH6):c.1335C>T (p.Asn445=) rs61731179
NM_002471.3(MYH6):c.1410C>T (p.Asp470=) rs139886074
NM_002471.3(MYH6):c.166G>A (p.Gly56Arg) rs28711516
NM_002471.3(MYH6):c.1753G>A (p.Gly585Ser) rs150415679
NM_002471.3(MYH6):c.1809C>T (p.Asn603=) rs186134696
NM_002471.3(MYH6):c.1944G>A (p.Thr648=) rs367742240
NM_002471.3(MYH6):c.2097C>T (p.Gly699=) rs149734381
NM_002471.3(MYH6):c.2151C>T (p.Tyr717=) rs76202964
NM_002471.3(MYH6):c.2430-14C>T rs190342289
NM_002471.3(MYH6):c.2685+14A>T rs765118655
NM_002471.3(MYH6):c.2806G>T (p.Ala936Ser) rs141704264
NM_002471.3(MYH6):c.2928+5G>A rs28730772
NM_002471.3(MYH6):c.2946G>A (p.Glu982=) rs145274612
NM_002471.3(MYH6):c.3164G>A (p.Arg1055Gln) rs540893860
NM_002471.3(MYH6):c.3199A>G (p.Ser1067Gly) rs145508517
NM_002471.3(MYH6):c.3302T>C (p.Val1101Ala) rs365990
NM_002471.3(MYH6):c.330G>A (p.Ala110=) rs77679218
NM_002471.3(MYH6):c.3388G>A (p.Ala1130Thr) rs28730771
NM_002471.3(MYH6):c.3408G>A (p.Lys1136=) rs28730770
NM_002471.3(MYH6):c.3480C>T (p.Ser1160=) rs373345984
NM_002471.3(MYH6):c.3609C>G (p.Ala1203=) rs149369904
NM_002471.3(MYH6):c.3627C>T (p.Ile1209=) rs147871745
NM_002471.3(MYH6):c.36G>A (p.Ala12=) rs141014719
NM_002471.3(MYH6):c.393G>A (p.Leu131=) rs17277970
NM_002471.3(MYH6):c.3978+8C>T rs367866050
NM_002471.3(MYH6):c.3979-10C>A rs28730768
NM_002471.3(MYH6):c.3979-10C>G rs28730768
NM_002471.3(MYH6):c.3979-11C>G rs200618133
NM_002471.3(MYH6):c.3979-14C>A rs372226248
NM_002471.3(MYH6):c.3979-7delT rs397516766
NM_002471.3(MYH6):c.3979-8C>T rs555976716
NM_002471.3(MYH6):c.3979-8delC rs193922652
NM_002471.3(MYH6):c.3979-8dupC rs193922652
NM_002471.3(MYH6):c.399G>A (p.Val133=) rs78891557
NM_002471.3(MYH6):c.4011G>A (p.Ser1337=) rs451794
NM_002471.3(MYH6):c.411G>A (p.Glu137=) rs2277474
NM_002471.3(MYH6):c.4206C>T (p.Ala1402=) rs111638554
NM_002471.3(MYH6):c.427C>A (p.Arg143=) rs2277473
NM_002471.3(MYH6):c.4293G>A (p.Met1431Ile) rs201016285
NM_002471.3(MYH6):c.4320T>A (p.Ala1440=) rs145566711
NM_002471.3(MYH6):c.4359+10G>A rs368183862
NM_002471.3(MYH6):c.4359+13C>T rs8022522
NM_002471.3(MYH6):c.4360-7C>T rs58949384
NM_002471.3(MYH6):c.4527G>A (p.Glu1509=) rs34855944
NM_002471.3(MYH6):c.4651-12A>C rs193922653
NM_002471.3(MYH6):c.4778A>T (p.Gln1593Leu) rs45574136
NM_002471.3(MYH6):c.4838T>C (p.Val1613Ala) rs61742476
NM_002471.3(MYH6):c.4906C>T (p.Arg1636Cys) rs149460065
NM_002471.3(MYH6):c.4914T>C (p.Ala1638=) rs178640
NM_002471.3(MYH6):c.4959+12C>T rs371661383
NM_002471.3(MYH6):c.4959+13G>A rs28730765
NM_002471.3(MYH6):c.4960-9G>A rs557113705
NM_002471.3(MYH6):c.4980C>T (p.Asp1660=) rs382872
NM_002471.3(MYH6):c.5112G>A (p.Ala1704=) rs150450178
NM_002471.3(MYH6):c.5259C>T (p.Ala1753=) rs8004990
NM_002471.3(MYH6):c.5367G>A (p.Glu1789=) rs753335327
NM_002471.3(MYH6):c.5403G>A (p.Glu1801=) rs762151922
NM_002471.3(MYH6):c.5410C>A (p.Gln1804Lys) rs144571463
NM_002471.3(MYH6):c.5439G>A (p.Gln1813=) rs200854143
NM_002471.3(MYH6):c.5475G>A (p.Glu1825=) rs79143968
NM_002471.3(MYH6):c.5566-7C>T rs200509899
NM_002471.3(MYH6):c.5598A>G (p.Leu1866=) rs17091278
NM_002471.3(MYH6):c.5652C>T (p.Ala1884=) rs200662317
NM_002471.3(MYH6):c.800-11A>G rs434273
NM_002471.3(MYH6):c.831G>T (p.Gln277His) rs140660481
NM_002471.3(MYH6):c.86G>A (p.Arg29Gln) rs150574114
NM_002471.3(MYH6):c.909G>A (p.Leu303=) rs17091623
NM_002471.3(MYH6):c.981C>T (p.Ser327=) rs148407931
NM_002471.3(MYH6):c.999C>T (p.Thr333=) rs78107039
NM_003276.2(TMPO):c.1246A>G (p.Lys416Glu) rs11838270
NM_003276.2(TMPO):c.1309G>C (p.Val437Leu) rs145703021
NM_003276.2(TMPO):c.1434G>C (p.Lys478Asn) rs35761089
NM_003276.2(TMPO):c.1471T>G (p.Ser491Ala) rs80325832
NM_003276.2(TMPO):c.1632T>A (p.Ile544=) rs12316677
NM_003276.2(TMPO):c.1795C>G (p.Gln599Glu) rs17459334
NM_003276.2(TMPO):c.1949G>A (p.Arg650His) rs138295270
NM_003276.2(TMPO):c.2068C>T (p.Arg690Cys) rs17028450
NM_003276.2(TMPO):c.252G>T (p.Ala84=) rs727504659
NM_003276.2(TMPO):c.396T>A (p.Gly132=) rs397516844
NM_003276.2(TMPO):c.686C>T (p.Thr229Ile) rs138790561
NM_003276.2(TMPO):c.713T>G (p.Leu238Arg) rs35998138
NM_003276.2(TMPO):c.877T>G (p.Ser293Ala) rs35645287
NM_003276.2(TMPO):c.925G>C (p.Ala309Pro) rs114939776
NM_003276.2(TMPO):c.950C>G (p.Thr317Ser) rs35969221
NM_003280.2(TNNC1):c.108C>A (p.Ile36=) rs202000367
NM_003280.2(TNNC1):c.210C>T (p.Gly70=) rs141505676
NM_003280.2(TNNC1):c.387G>C (p.Thr129=) rs397516845
NM_003280.2(TNNC1):c.55+9C>A rs750647348
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_003476.4(CSRP3):c.-74A>C rs45498797
NM_003476.4(CSRP3):c.150G>A (p.Ala50=) rs7124801
NM_003476.4(CSRP3):c.213C>T (p.Ile71=) rs45476991
NM_003476.4(CSRP3):c.312C>G (p.Thr104=) rs45582433
NM_003476.4(CSRP3):c.336G>A (p.Ala112=) rs13451
NM_003673.3(TCAP):c.453A>C (p.Ala151=) rs1053651
NM_003673.3(TCAP):c.60C>G (p.Ala20=) rs146502276
NM_004100.4(EYA4):c.1035G>C (p.Arg345Ser) rs140170914
NM_004100.4(EYA4):c.1739-64G>A rs143208937
NM_004100.4(EYA4):c.580+14_580+16delTCT rs139659489
NM_004100.4(EYA4):c.829G>A (p.Gly277Ser) rs9493627
NM_004100.4(EYA4):c.866C>T (p.Thr289Met) rs41286200
NM_004281.3(BAG3):c.-17G>A rs200388926
NM_004281.3(BAG3):c.1240G>A (p.Glu414Lys) rs117749531
NM_004281.3(BAG3):c.1436C>T (p.Ala479Val) rs34656239
NM_004281.3(BAG3):c.1588G>A (p.Val530Met) rs144678100
NM_004281.3(BAG3):c.181-15C>T rs397516882
NM_004281.3(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_004281.3(BAG3):c.231G>A (p.Pro77=) rs143752613
NM_004281.3(BAG3):c.415C>T (p.Arg139Trp) rs556465096
NM_004281.3(BAG3):c.463G>A (p.Ala155Thr) rs61756328
NM_004281.3(BAG3):c.465A>G (p.Ala155=) rs775151738
NM_004281.3(BAG3):c.467C>G (p.Ala156Gly) rs572038196
NM_004281.3(BAG3):c.474_476dupGGC (p.Ala160_Gln161insAla) rs139438727
NM_004281.3(BAG3):c.549C>G (p.Ser183=) rs112929734
NM_004281.3(BAG3):c.606G>T (p.Pro202=) rs74157690
NM_004281.3(BAG3):c.855G>A (p.Thr285=) rs147259596
NM_004281.3(BAG3):c.888C>T (p.His296=) rs139399890
NM_004281.3(BAG3):c.898G>A (p.Asp300Asn) rs78439745
NM_005159.4(ACTC1):c.-36C>G rs886051091
NM_005159.4(ACTC1):c.1053G>C (p.Leu351=) rs151321743
NM_005159.4(ACTC1):c.537T>A (p.Arg179=) rs750131288
NM_005159.4(ACTC1):c.809-16_809-13delTGTG rs59431308
NM_005159.4(ACTC1):c.927T>C (p.Pro309=) rs2307493
NM_005572.3(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_005572.3(LMNA):c.1488G>A (p.Thr496=) rs375516745
NM_005572.3(LMNA):c.1584G>A (p.Thr528=) rs80356812
NM_005572.3(LMNA):c.1698C>T (p.His566=) rs4641
NM_005572.3(LMNA):c.294G>A (p.Glu98=) rs886045363
NM_005572.3(LMNA):c.51C>T (p.Ser17=) rs11549668
NM_005572.3(LMNA):c.861T>C (p.Ala287=) rs538089
NM_005572.3(LMNA):c.936+12C>T rs199881992
NM_005691.3(ABCC9):c.-11T>C rs72559432
NM_005691.3(ABCC9):c.1165-6delT rs35857705
NM_005691.3(ABCC9):c.1165-6dup rs35857705
NM_005691.3(ABCC9):c.1332C>T (p.Gly444=) rs369830406
NM_005691.3(ABCC9):c.1557G>A (p.Glu519=) rs143346402
NM_005691.3(ABCC9):c.1659+10T>C rs201753781
NM_005691.3(ABCC9):c.2238-17del rs4148670
NM_005691.3(ABCC9):c.2631G>A (p.Thr877=) rs139408145
NM_005691.3(ABCC9):c.2644-11G>A rs61926078
NM_005691.3(ABCC9):c.2770-13A>G rs184123387
NM_005691.3(ABCC9):c.2862C>T (p.Asp954=) rs2291550
NM_005691.3(ABCC9):c.372T>C (p.Asn124=) rs377384557
NM_007078.2(LDB3):c.-114T>C rs2803558
NM_007078.2(LDB3):c.690-4A>G rs45529531
NM_014000.2(VCL):c.1290C>T (p.Asp430=) rs576271894
NM_014000.2(VCL):c.1407C>T (p.Ala469=) rs2229507
NM_014000.2(VCL):c.1506G>A (p.Arg502=) rs2228373
NM_014000.2(VCL):c.1542C>T (p.Val514=) rs7904077
NM_014000.2(VCL):c.1543+8C>G rs886047218
NM_014000.2(VCL):c.1607C>A (p.Pro536His) rs200624351
NM_014000.2(VCL):c.1671C>T (p.Asp557=) rs137877092
NM_014000.2(VCL):c.1716T>G (p.Leu572=) rs189781480
NM_014000.2(VCL):c.2388G>A (p.Pro796=) rs767809
NM_014000.2(VCL):c.2427C>T (p.Ser809=) rs183739128
NM_014000.2(VCL):c.2472C>G (p.Ile824Met) rs140381835
NM_014000.2(VCL):c.2521G>C (p.Asp841His) rs150385900
NM_014000.2(VCL):c.2746-8C>T rs532645343
NM_014000.2(VCL):c.2801C>T (p.Ala934Val) rs16931179
NM_014000.2(VCL):c.2802C>T (p.Ala934=) rs372381809
NM_014000.2(VCL):c.2814C>G (p.Gly938=) rs2131956
NM_014000.2(VCL):c.3258+10A>T rs71579379
NM_014000.2(VCL):c.339G>A (p.Arg113=) rs56314318
NM_014000.2(VCL):c.378C>T (p.Phe126=) rs148966602
NM_014000.2(VCL):c.45G>A (p.Pro15=) rs775062250
NM_014000.2(VCL):c.492T>G (p.Leu164=) rs143702799
NM_014000.2(VCL):c.768T>C (p.Asp256=) rs56413529
NM_014000.2(VCL):c.789T>C (p.Thr263=) rs538002543
NM_014000.2(VCL):c.945C>A (p.Gly315=) rs61731180
NM_014391.2(ANKRD1):c.-17A>G rs79341122
NM_014391.2(ANKRD1):c.-34C>T rs114144205
NM_014391.2(ANKRD1):c.346-13_346-10delATTT rs397517250
NM_014391.2(ANKRD1):c.346-15T>A rs11595794
NM_014391.2(ANKRD1):c.346-15_346-14delTT rs794728971
NM_014391.2(ANKRD1):c.346-17_346-10delATTTATTT rs397517250
NM_014391.2(ANKRD1):c.346-29_346-12del18 rs72003210
NM_014391.2(ANKRD1):c.348G>A (p.Thr116=) rs137914723
NM_014391.2(ANKRD1):c.652-13delT rs3839929
NM_020297.3(ABCC9):c.1164+11A>G rs4762720
NM_020297.3(ABCC9):c.1296C= (p.Pro432=) rs10770865
NM_020297.3(ABCC9):c.1848C>T (p.Asp616=) rs61001398
NM_020297.3(ABCC9):c.2199-11T>C rs697250
NM_020297.3(ABCC9):c.2199-6T>C rs535477725
NM_020297.3(ABCC9):c.2424+9T>C rs11835804
NM_020297.3(ABCC9):c.2826T>C (p.Tyr942=) rs141025897
NM_020297.3(ABCC9):c.407-14C>A rs201279882
NM_020297.3(ABCC9):c.574-5C>A rs3759236
NM_133378.4(TTN):c.*6C>A rs188728343
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
NM_144573.3(NEXN):c.1029G>A (p.Ala343=) rs374260457
NM_144573.3(NEXN):c.1065T>C (p.Asp355=) rs369897647
NM_144573.3(NEXN):c.1408G>C (p.Glu470Gln) rs35366555
NM_144573.3(NEXN):c.363G>A (p.Thr121=) rs35117963
NM_144573.3(NEXN):c.732C>A (p.Pro244=) rs201171783
NM_144573.3(NEXN):c.733G>A (p.Gly245Arg) rs1166698
NM_144573.3(NEXN):c.864+12T>A rs188416492
NM_144573.3(NEXN):c.893C>G (p.Thr298Arg) rs200753280
NM_144573.3(NEXN):c.949A>C (p.Met317Leu) rs559464457
NM_144573.3(NEXN):c.995A>C (p.Glu332Ala) rs201763096
NM_170707.3(LMNA):c.1149G>A (p.Glu383=) rs267607603
NM_170707.3(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.3(LMNA):c.1566C>T (p.Cys522=) rs149339264
NM_170707.3(LMNA):c.612G>A (p.Leu204=) rs12117552
NM_170707.3(LMNA):c.811-13T>A rs80356809
NM_172105.3(EYA4):c.1107+10C>G rs752586864
NM_172105.3(EYA4):c.888G>A (p.Ser296=) rs768010410
NM_198056.2(SCN5A):c.100C>T (p.Arg34Cys) rs6791924
NM_198056.2(SCN5A):c.1044C>T (p.Pro348=) rs370346797
NM_198056.2(SCN5A):c.1068T>C (p.Asp356=) rs41313703
NM_198056.2(SCN5A):c.1141-3C>A rs41312433
NM_198056.2(SCN5A):c.1302C>T (p.Phe434=) rs41313699
NM_198056.2(SCN5A):c.1569T>A (p.Arg523=) rs41313693
NM_198056.2(SCN5A):c.1673A>G (p.His558Arg) rs1805124
NM_198056.2(SCN5A):c.1681C>T (p.Leu561=) rs45522138
NM_198056.2(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_198056.2(SCN5A):c.1743G>A (p.Ser581=) rs41313687
NM_198056.2(SCN5A):c.1800G>A (p.Val600=) rs758101066
NM_198056.2(SCN5A):c.2151G>A (p.Pro717=) rs191840835
NM_198056.2(SCN5A):c.2181C>T (p.Ile727=) rs186942072
NM_198056.2(SCN5A):c.21T>A (p.Pro7=) rs587781157
NM_198056.2(SCN5A):c.2259C>T (p.Asn753=) rs878911306
NM_198056.2(SCN5A):c.2437-5C>A rs72549411
NM_198056.2(SCN5A):c.2788-6C>T rs41260344
NM_198056.2(SCN5A):c.3183A>G (p.Glu1061=) rs7430407
NM_198056.2(SCN5A):c.3228+6C>G rs368048551
NM_198056.2(SCN5A):c.3308C>A (p.Ser1103Tyr) rs7626962
NM_198056.2(SCN5A):c.3363G>A (p.Ala1121=) rs9858585
NM_198056.2(SCN5A):c.3391-7T>C rs41310769
NM_198056.2(SCN5A):c.3873G>A (p.Leu1291=) rs41313033
NM_198056.2(SCN5A):c.4437+13C>T rs148598985
NM_198056.2(SCN5A):c.4824C>T (p.Leu1608=) rs45437099
NM_198056.2(SCN5A):c.5454C>T (p.Ala1818=) rs370114378
NM_198056.2(SCN5A):c.5457T>C (p.Asp1819=) rs1805126
NM_198056.2(SCN5A):c.5607C>T (p.Asp1869=) rs560476223
NM_198056.2(SCN5A):c.6003C>T (p.Leu2001=) rs538707712
NM_198056.2(SCN5A):c.687T>C (p.Thr229=) rs770390440
NM_198056.2(SCN5A):c.87A>G (p.Ala29=) rs6599230
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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