MYL3 protein-altering variants in ExAC

MYL3 gene summary
MYL3 variants in HCM, DCM

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 frequency▼Populations*
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. 46901099 c.347C>T p.P116L missense 0.00001647●●●●●●
18. 46900980 c.466G>A p.V156M missense 0.00001647●●●●●●
19. 46900986 c.460C>T p.R154C 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. 46904851 c.30G>C p.K10N missense 0.00000826●●●●●●
27. 46899949 c.484G>A p.E162K missense 0.00000826●●●●●●
28. 46902193 c.280C>T p.R94C missense 0.00000826●●●●●●
29. 46904853 c.28_30delAAG p.Lys10del inframe 0.00000826●●●●●●
30. 46899945 c.488G>C p.R163T missense 0.00000826●●●●●●
31. 46899948 c.485A>G p.E162G missense 0.00000826●●●●●●
32. 46902455 c.152T>G p.I51S 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. 46901007 c.439A>G p.T147A missense 0.00000824●●●●●●
37. 46904799 c.82G>A p.E28K missense 0.00000824●●●●●●
38. 46902297 c.176T>C p.M59T missense 0.00000824●●●●●●
39. 46902264 c.209_211delAGA p.Lys70del inframe 0.00000824●●●●●●
40. 46902232 c.241C>T p.R81W missense 0.00000824●●●●●●
41. 46902279 c.194C>G p.P65R missense 0.00000824●●●●●●
42. 46901129 c.317C>A p.T106N missense 0.00000824●●●●●●
43. 46901046 c.400G>T p.V134L missense 0.00000824●●●●●●
44. 46904820 c.61C>T p.P21S missense 0.00000824●●●●●●
45. 46902313 c.160T>G p.F54V missense 0.00000824●●●●●●
46. 46900985 c.461G>T p.R154L missense 0.00000824●●●●●●
47. 46901072 c.374A>G p.K125R missense 0.00000824●●●●●●
48. 46904790 c.91C>G p.R31G missense 0.00000824●●●●●●
49. 46902286 c.187C>T p.R63C missense 0.00000824●●●●●●
50. 46901057 c.389A>T p.Y130F missense 0.00000824●●●●●●
51. 46901135 c.311T>C p.L104P missense 0.00000824●●●●●●
52. 46901000 c.446T>C p.M149T missense 0.00000824●●●●●●
53. 46900990 c.456G>T p.E152D missense 0.00000824●●●●●●
54. 46902246 c.227G>A p.C76Y missense 0.00000824●●●●●●
55. 46904796 c.85C>G p.P29A missense 0.00000824●●●●●●
56. 46902289 c.184G>A p.D62N missense 0.00000824●●●●●●
57. 46899912 c.521C>T p.A174V missense 0.00000824●●●●●●
58. 46901036 c.410_411insT p.Arg138AlafsTer15 frameshift 0.00000824●●●●●●
59. 46899876 c.557A>C p.E186A missense 0.00000824●●●●●●
60. 46904775 c.106G>A p.E36K missense 0.00000824●●●●●●
61. 46902271 c.202G>C p.E68Q 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.