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