MYL3 missense variants in ExAC

MYL3 gene summary
MYL3 variants in HCM, DCM

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

* 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.