MYL3 variants in ExAC

MYL3 gene summary
MYL3 variants in HCM, DCM

The table below lists the MYL3 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. 46904880 c.1A>G p.Met1? missense 0.00001666●●●●●●
2. 46904879 c.2delT p.Met1? frameshift 0.00000832●●●●●●
3. 46904877 c.4G>C p.A2P missense 0.00004159●●●●●●
4. 46904873 c.8C>A p.P3H missense 0.00000832●●●●●●
5. 46904864 c.17C>G p.P6R missense 0.00000828●●●●●●
6. 46904853 c.28_30delAAG p.Lys10del inframe 0.00000826●●●●●●
7. 46904851 c.30G>C p.K10N missense 0.00000826●●●●●●
8. 46904845 c.36T>G p.D12E missense 0.00000825●●●●●●
9. 46904826 c.55G>T p.A19S missense 0.00002473●●●●●●
10. 46904820 c.61C>T p.P21S missense 0.00000824●●●●●●
11. 46904808 c.73C>T p.P25S missense 0.00001648●●●●●●
12. 46904799 c.82G>A p.E28K missense 0.00000824●●●●●●
13. 46904796 c.85C>G p.P29A missense 0.00000824●●●●●●
14. 46904790 c.91C>T p.R31C missense 0.00001648●●●●●●
15. 46904790 c.91C>G p.R31G missense 0.00000824●●●●●●
16. 46904789 c.92G>A p.R31H missense 0.00010709●●●●●●
17. 46904787 c.94C>T p.P32S missense 0.00001648●●●●●●
18. 46904775 c.106G>A p.E36K missense 0.00000824●●●●●●
19. 46904749 c.129+3G>A splice site 0.00000824●●●●●●
20. 46902487 c.130-10C>T splice site 0.00000829●●●●●●
21. 46902471 c.136T>C p.F46L missense 0.00000827●●●●●●
22. 46902467 c.140C>T p.T47I missense 0.00002480●●●●●●
23. 46902455 c.152T>C p.I51T missense 0.00001652●●●●●●
24. 46902455 c.152T>G p.I51S missense 0.00000826●●●●●●
25. 46902442 c.157+8G>C splice site 0.00014027●●●●●●
26. 46902322 c.158-7C>G splice site 0.00000824●●●●●●
27. 46902313 c.160T>G p.F54V missense 0.00000824●●●●●●
28. 46902303 c.170C>G p.A57G missense 0.00009066●●●●●●
29. 46902303 c.170C>A p.A57D missense 0.00011538●●●●●●
30. 46902297 c.176T>C p.M59T missense 0.00000824●●●●●●
31. 46902289 c.184G>A p.D62N missense 0.00000824●●●●●●
32. 46902286 c.187C>T p.R63C missense 0.00000824●●●●●●
33. 46902285 c.188G>A p.R63H missense 0.00002472●●●●●●
34. 46902279 c.194C>G p.P65R missense 0.00000824●●●●●●
35. 46902271 c.202G>C p.E68Q missense 0.00000824●●●●●●
36. 46902264 c.209_211delAGA p.Lys70del inframe 0.00000824●●●●●●
37. 46902253 c.220G>A p.G74R missense 0.00005769●●●●●●
38. 46902246 c.227G>A p.C76Y missense 0.00000824●●●●●●
39. 46902238 c.235G>A p.V79I missense 0.00003297●●●●●●
40. 46902232 c.241C>T p.R81W missense 0.00000824●●●●●●
41. 46902228 c.245C>T p.A82V missense 0.00003298●●●●●●
42. 46902199 c.274G>A p.V92M missense 0.00000825●●●●●●
43. 46902193 c.280C>T p.R94C missense 0.00000826●●●●●●
44. 46902179 c.294G>T p.K98N missense 0.00000827●●●●●●
45. 46902172 c.301C>G p.Q101E missense 0.00000827●●●●●●
46. 46902162 c.307+4G>C splice site 0.00000828●●●●●●
47. 46902161 c.307+5T>G splice site 0.00001656●●●●●●
48. 46901137 c.309G>A splice site 0.00000824●●●●●●
49. 46901135 c.311T>C p.L104P missense 0.00000824●●●●●●
50. 46901129 c.317C>A p.T106N missense 0.00000824●●●●●●
51. 46901099 c.347C>T p.P116L missense 0.00001647●●●●●●
52. 46901072 c.374A>G p.K125R missense 0.00000824●●●●●●
53. 46901057 c.389A>T p.Y130F missense 0.00000824●●●●●●
54. 46901046 c.400G>T p.V134L missense 0.00000824●●●●●●
55. 46901036 c.410_411insT p.Arg138AlafsTer15 frameshift 0.00000824●●●●●●
56. 46901007 c.439A>G p.T147A missense 0.00000824●●●●●●
57. 46901000 c.446T>C p.M149T missense 0.00000824●●●●●●
58. 46900990 c.456G>T p.E152D missense 0.00000824●●●●●●
59. 46900986 c.460C>T p.R154C missense 0.00001647●●●●●●
60. 46900985 c.461G>A p.R154H missense 0.00002471●●●●●●
61. 46900985 c.461G>T p.R154L missense 0.00000824●●●●●●
62. 46900980 c.466G>A p.V156M missense 0.00001647●●●●●●
63. 46900970 c.476C>T p.T159M missense 0.00002471●●●●●●
64. 46899961 c.482-10C>G splice site 0.00000829●●●●●●
65. 46899949 c.484G>A p.E162K missense 0.00000826●●●●●●
66. 46899948 c.485A>G p.E162G missense 0.00000826●●●●●●
67. 46899945 c.488G>C p.R163T missense 0.00000826●●●●●●
68. 46899940 c.493A>G p.T165A missense 0.00000825●●●●●●
69. 46899912 c.521C>T p.A174V missense 0.00000824●●●●●●
70. 46899903 c.530A>G p.E177G missense 0.00004945●●●●●●
71. 46899901 c.532G>A p.D178N missense 0.00026373●●●●●●
72. 46899876 c.557A>C p.E186A missense 0.00000824●●●●●●
73. 46899868 c.559+6C>T splice site 0.00019774●●●●●●
74. 46899769 c.560-7T>A splice site 0.00000824●●●●●●

* 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.