MYL3 variants in ExAC

MYL3 gene summary
MYL3 variants in HCM, DCM

The table below lists the MYL3 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. 46899868 c.559+6C>T splice site 0.00019774●●●●●●
3. 46902442 c.157+8G>C splice site 0.00014027●●●●●●
4. 46902303 c.170C>A p.A57D missense 0.00011538●●●●●●
5. 46904789 c.92G>A p.R31H missense 0.00010709●●●●●●
6. 46902303 c.170C>G p.A57G missense 0.00009066●●●●●●
7. 46902253 c.220G>A p.G74R missense 0.00005769●●●●●●
8. 46899903 c.530A>G p.E177G missense 0.00004945●●●●●●
9. 46904877 c.4G>C p.A2P missense 0.00004159●●●●●●
10. 46902228 c.245C>T p.A82V missense 0.00003298●●●●●●
11. 46902238 c.235G>A p.V79I missense 0.00003297●●●●●●
12. 46902467 c.140C>T p.T47I missense 0.00002480●●●●●●
13. 46904826 c.55G>T p.A19S missense 0.00002473●●●●●●
14. 46902285 c.188G>A p.R63H missense 0.00002472●●●●●●
15. 46900985 c.461G>A p.R154H missense 0.00002471●●●●●●
16. 46900970 c.476C>T p.T159M missense 0.00002471●●●●●●
17. 46904880 c.1A>G p.Met1? missense 0.00001666●●●●●●
18. 46902161 c.307+5T>G splice site 0.00001656●●●●●●
19. 46902455 c.152T>C p.I51T missense 0.00001652●●●●●●
20. 46904787 c.94C>T p.P32S missense 0.00001648●●●●●●
21. 46904790 c.91C>T p.R31C missense 0.00001648●●●●●●
22. 46904808 c.73C>T p.P25S missense 0.00001648●●●●●●
23. 46900980 c.466G>A p.V156M missense 0.00001647●●●●●●
24. 46900986 c.460C>T p.R154C missense 0.00001647●●●●●●
25. 46901099 c.347C>T p.P116L missense 0.00001647●●●●●●
26. 46904879 c.2delT p.Met1? frameshift 0.00000832●●●●●●
27. 46904873 c.8C>A p.P3H missense 0.00000832●●●●●●
28. 46902487 c.130-10C>T splice site 0.00000829●●●●●●
29. 46899961 c.482-10C>G splice site 0.00000829●●●●●●
30. 46902162 c.307+4G>C splice site 0.00000828●●●●●●
31. 46904864 c.17C>G p.P6R missense 0.00000828●●●●●●
32. 46902471 c.136T>C p.F46L missense 0.00000827●●●●●●
33. 46902179 c.294G>T p.K98N missense 0.00000827●●●●●●
34. 46902172 c.301C>G p.Q101E missense 0.00000827●●●●●●
35. 46902193 c.280C>T p.R94C missense 0.00000826●●●●●●
36. 46902455 c.152T>G p.I51S missense 0.00000826●●●●●●
37. 46899949 c.484G>A p.E162K missense 0.00000826●●●●●●
38. 46904851 c.30G>C p.K10N missense 0.00000826●●●●●●
39. 46904853 c.28_30delAAG p.Lys10del inframe 0.00000826●●●●●●
40. 46899945 c.488G>C p.R163T missense 0.00000826●●●●●●
41. 46899948 c.485A>G p.E162G missense 0.00000826●●●●●●
42. 46899940 c.493A>G p.T165A missense 0.00000825●●●●●●
43. 46902199 c.274G>A p.V92M missense 0.00000825●●●●●●
44. 46904845 c.36T>G p.D12E missense 0.00000825●●●●●●
45. 46904820 c.61C>T p.P21S missense 0.00000824●●●●●●
46. 46904775 c.106G>A p.E36K missense 0.00000824●●●●●●
47. 46902271 c.202G>C p.E68Q missense 0.00000824●●●●●●
48. 46904790 c.91C>G p.R31G missense 0.00000824●●●●●●
49. 46904796 c.85C>G p.P29A missense 0.00000824●●●●●●
50. 46904799 c.82G>A p.E28K missense 0.00000824●●●●●●
51. 46901036 c.410_411insT p.Arg138AlafsTer15 frameshift 0.00000824●●●●●●
52. 46901137 c.309G>A splice site 0.00000824●●●●●●
53. 46902322 c.158-7C>G splice site 0.00000824●●●●●●
54. 46899769 c.560-7T>A splice site 0.00000824●●●●●●
55. 46902264 c.209_211delAGA p.Lys70del inframe 0.00000824●●●●●●
56. 46901129 c.317C>A p.T106N missense 0.00000824●●●●●●
57. 46901072 c.374A>G p.K125R missense 0.00000824●●●●●●
58. 46902246 c.227G>A p.C76Y missense 0.00000824●●●●●●
59. 46899912 c.521C>T p.A174V missense 0.00000824●●●●●●
60. 46899876 c.557A>C p.E186A missense 0.00000824●●●●●●
61. 46900985 c.461G>T p.R154L missense 0.00000824●●●●●●
62. 46900990 c.456G>T p.E152D missense 0.00000824●●●●●●
63. 46901007 c.439A>G p.T147A missense 0.00000824●●●●●●
64. 46901046 c.400G>T p.V134L missense 0.00000824●●●●●●
65. 46901057 c.389A>T p.Y130F missense 0.00000824●●●●●●
66. 46904749 c.129+3G>A splice site 0.00000824●●●●●●
67. 46901135 c.311T>C p.L104P missense 0.00000824●●●●●●
68. 46901000 c.446T>C p.M149T missense 0.00000824●●●●●●
69. 46902232 c.241C>T p.R81W missense 0.00000824●●●●●●
70. 46902279 c.194C>G p.P65R missense 0.00000824●●●●●●
71. 46902286 c.187C>T p.R63C missense 0.00000824●●●●●●
72. 46902289 c.184G>A p.D62N missense 0.00000824●●●●●●
73. 46902297 c.176T>C p.M59T missense 0.00000824●●●●●●
74. 46902313 c.160T>G p.F54V 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.