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