MYOM1 truncating variants in ExAC

MYOM1 gene summary
MYOM1 variants in

The table below lists the MYOM1 truncating variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 3215219 c.3_4insA p.Ser2IlefsTer13 frameshift 0.00001065●●●●●●
2. 3215160 c.62_63insTCTCAGCTAC p.Val22LeufsTer63 frameshift 0.00000892●●●●●●
3. 3215158 c.64_65insCAACAAGGACC p.Val22AlafsTer9 frameshift 0.00000876●●●●●●
4. 3215013 c.209dupA p.Gln71AlafsTer11 frameshift 0.00000848●●●●●●
5. 3214931 c.290+1G>A essential splice site 0.00000926●●●●●●
6. 3193822 c.425C>G p.S142X nonsense 0.00000831●●●●●●
7. 3188969 c.548delA p.Gln183ArgfsTer62 frameshift 0.00003312●●●●●●
8. 3188880 c.637C>T p.Q213X nonsense 0.00002484●●●●●●
9. 3188875 c.642_660delCACGGCATCCAGGCAGTCTinsCACGGCATCCAGGCAGTCCATGGCATCCAGGCAGT p.Val221MetfsTer22 frameshift 0.00002488●●●●●●
10. 3188857 c.660_661insCC p.Val221ProfsTer25 frameshift 0.00002488●●●●●●
11. 3176071 c.991C>T p.R331X nonsense 0.00003335●●●●●●
12. 3176039 c.1022+1G>A essential splice site 0.00000869●●●●●●
13. 3176039 c.1022+1G>T essential splice site 0.00000869●●●●●●
14. 3174207 c.1023-1G>C essential splice site 0.00000830●●●●●●
15. 3173994 c.1116T>A p.Tyr372Ter nonsense 0.00000829●●●●●●
16. 3168981 c.1175-2A>T essential splice site 0.00025514●●●●●●
17. 3168898 c.1256delG p.Gly419GlufsTer4 frameshift 0.00000845●●●●●●
18. 3168872 c.1282_1283delGT p.Val428CysfsTer5 frameshift 0.00000834●●●●●●
19. 3164412 c.1365G>A p.W455X nonsense 0.00003675●●●●●●
20. 3164279 c.1498C>T p.R500X nonsense 0.00003053●●●●●●
21. 3151867 c.1668G>A p.W556X nonsense 0.00000829●●●●●●
22. 3151788 c.1747C>T p.R583X nonsense 0.00002485●●●●●●
23. 3151782 c.1753C>T p.R585X nonsense 0.00002485●●●●●●
24. 3151691 c.1843+1G>A essential splice site 0.00000850●●●●●●
25. 3149200 c.1844-1G>A essential splice site 0.00000832●●●●●●
26. 3149142 c.1900+1G>A essential splice site 0.00000829●●●●●●
27. 3142063 c.1901-2A>G essential splice site 0.00002509●●●●●●
28. 3135581 c.2173G>T p.E725X nonsense 0.00000843●●●●●●
29. 3134715 c.2317_2318insA p.Ile773AsnfsTer15 frameshift 0.00000828●●●●●●
30. 3134649 c.2383C>T p.R795X nonsense 0.00005101●●●●●●
31. 3129447 c.2577dupG p.Arg860AlafsTer4 frameshift 0.00016566●●●●●●
32. 3129406 c.2618delC p.Ala873ValfsTer24 frameshift 0.00001656●●●●●●
33. 3129251 c.2773delC p.Leu925Ter frameshift 0.00000849●●●●●●
34. 3129234 c.2790_2793delCAGA p.Asp930GlufsTer40 frameshift 0.00001812●●●●●●
35. 3126844 c.2846C>G p.S949X nonsense 0.00000963●●●●●●
36. 3126824 c.2866C>T p.Q956X nonsense 0.00000901●●●●●●
37. 3126698 c.2991+1G>T essential splice site 0.00000889●●●●●●
38. 3119925 c.3060_3061insTGGGC p.Ala1021TrpfsTer7 frameshift 0.00001029●●●●●●
39. 3116472 c.3160_3161delTC p.Ser1054ThrfsTer38 frameshift 0.00000869●●●●●●
40. 3116372 c.3260G>A p.W1087X nonsense 0.00002696●●●●●●
41. 3112411 c.3304-1G>T essential splice site 0.00000875●●●●●●
42. 3112407 c.3307C>T p.R1103X nonsense 0.00000872●●●●●●
43. 3112356 c.3358C>T p.Q1120X nonsense 0.00000831●●●●●●
44. 3102583 c.3464C>A p.S1155X nonsense 0.00000828●●●●●●
45. 3102500 c.3547C>T p.R1183X nonsense 0.00001662●●●●●●
46. 3100317 c.3682+1G>T essential splice site 0.00001675●●●●●●
47. 3100202 c.3683-1G>T essential splice site 0.00000828●●●●●●
48. 3094305 c.3728-1G>A essential splice site 0.00000976●●●●●●
49. 3090779 c.3886C>T p.R1296X nonsense 0.00001657●●●●●●
50. 3090717 c.3948C>A p.Y1316X nonsense 0.00000828●●●●●●
51. 3090655 c.4009+1G>A essential splice site 0.00000828●●●●●●
52. 3090655 c.4009+1G>T essential splice site 0.00000828●●●●●●
53. 3089240 c.4070-1G>C essential splice site 0.00001678●●●●●●
54. 3089210 c.4099G>T p.E1367X nonsense 0.00000833●●●●●●
55. 3089195 c.4114delT p.Cys1372ValfsTer5 frameshift 0.00000834●●●●●●
56. 3086150 c.4138-1G>A essential splice site 0.00000859●●●●●●
57. 3085088 c.4294_4295delGA p.Asp1432Ter frameshift 0.00001359●●●●●●
58. 3085082 c.4300C>T p.R1434X nonsense 0.00002731●●●●●●
59. 3085042 c.4339+1G>T essential splice site 0.00001833●●●●●●
60. 3079300 c.4525delG p.Val1509SerfsTer53 frameshift 0.00000832●●●●●●
61. 3079299 c.4526delT p.Val1509AlafsTer53 frameshift 0.00000832●●●●●●
62. 3079195 c.4630delG p.Val1544TrpfsTer18 frameshift 0.00000845●●●●●●
63. 3075733 c.4675C>T p.Q1559X nonsense 0.00001360●●●●●●
64. 3067357 c.4961C>A p.S1654X nonsense 0.00000830●●●●●●
65. 3067313 c.5005_5006insGT p.Glu1669GlyfsTer11 frameshift 0.00000899●●●●●●
66. 3067273 c.5045dupA p.Lys1683GlufsTer16 frameshift 0.00030685●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.