MYL3 protein-altering variants in ExAC


The table below lists the MYL3 protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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 frequencyPopulations*
1. 46902303 c.170C>G p.A57G missense 0.00009066
2. 46900985 c.461G>A p.R154H missense 0.00002471
3. 46900980 c.466G>A p.V156M missense 0.00001647
4. 46900986 c.460C>T p.R154C missense 0.00001647
5. 46902238 c.235G>A p.V79I missense 0.00003297
6. 46902285 c.188G>A p.R63H missense 0.00002472
7. 46904826 c.55G>T p.A19S missense 0.00002473
8. 46904877 c.4G>C p.A2P missense 0.00004159
9. 46899903 c.530A>G p.E177G missense 0.00004945
10. 46901000 c.446T>C p.M149T missense 0.00000824
11. 46899876 c.557A>C p.E186A missense 0.00000824
12. 46899949 c.484G>A p.E162K missense 0.00000826
13. 46901072 c.374A>G p.K125R missense 0.00000824
14. 46902246 c.227G>A p.C76Y missense 0.00000824
15. 46904790 c.91C>T p.R31C missense 0.00001648
16. 46904808 c.73C>T p.P25S missense 0.00001648
17. 46904873 c.8C>A p.P3H missense 0.00000832
18. 46899912 c.521C>T p.A174V missense 0.00000824
19. 46899940 c.493A>G p.T165A missense 0.00000825
20. 46899945 c.488G>C p.R163T missense 0.00000826
21. 46899948 c.485A>G p.E162G missense 0.00000826
22. 46900970 c.476C>T p.T159M missense 0.00002471
23. 46900985 c.461G>T p.R154L missense 0.00000824
24. 46900990 c.456G>T p.E152D missense 0.00000824
25. 46901007 c.439A>G p.T147A missense 0.00000824
26. 46901046 c.400G>T p.V134L missense 0.00000824
27. 46901057 c.389A>T p.Y130F missense 0.00000824
28. 46901099 c.347C>T p.P116L missense 0.00001647
29. 46901129 c.317C>A p.T106N missense 0.00000824
30. 46901135 c.311T>C p.L104P missense 0.00000824
31. 46902172 c.301C>G p.Q101E missense 0.00000827
32. 46902179 c.294G>T p.K98N missense 0.00000827
33. 46902193 c.280C>T p.R94C missense 0.00000826
34. 46902199 c.274G>A p.V92M missense 0.00000825
35. 46902228 c.245C>T p.A82V missense 0.00003298
36. 46902232 c.241C>T p.R81W missense 0.00000824
37. 46902253 c.220G>A p.G74R missense 0.00005769
38. 46902271 c.202G>C p.E68Q missense 0.00000824
39. 46902279 c.194C>G p.P65R missense 0.00000824
40. 46902286 c.187C>T p.R63C missense 0.00000824
41. 46902289 c.184G>A p.D62N missense 0.00000824
42. 46902297 c.176T>C p.M59T missense 0.00000824
43. 46902313 c.160T>G p.F54V missense 0.00000824
44. 46902455 c.152T>C p.I51T missense 0.00001652
45. 46902455 c.152T>G p.I51S missense 0.00000826
46. 46902467 c.140C>T p.T47I missense 0.00002480
47. 46902471 c.136T>C p.F46L missense 0.00000827
48. 46904775 c.106G>A p.E36K missense 0.00000824
49. 46904787 c.94C>T p.P32S missense 0.00001648
50. 46904790 c.91C>G p.R31G missense 0.00000824
51. 46904796 c.85C>G p.P29A missense 0.00000824
52. 46904799 c.82G>A p.E28K missense 0.00000824
53. 46904820 c.61C>T p.P21S missense 0.00000824
54. 46904845 c.36T>G p.D12E missense 0.00000825
55. 46904851 c.30G>C p.K10N missense 0.00000826
56. 46904864 c.17C>G p.P6R missense 0.00000828
57. 46904880 c.1A>G p.Met1? missense 0.00001666
58. 46901036 c.410_411insT p.Arg138AlafsTer15 frameshift 0.00000824
59. 46904879 c.2delT p.Met1? frameshift 0.00000832
60. 46902264 c.209_211delAGA p.Lys70del inframe 0.00000824
61. 46904853 c.28_30delAAG p.Lys10del inframe 0.00000826

* 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.