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. 46900970 c.476C>T p.T159M missense 0.00002471●●●●●●
16. 46900985 c.461G>A p.R154H 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. 46900986 c.460C>T p.R154C missense 0.00001647●●●●●●
24. 46900980 c.466G>A p.V156M 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. 46899961 c.482-10C>G splice site 0.00000829●●●●●●
29. 46902487 c.130-10C>T splice site 0.00000829●●●●●●
30. 46904864 c.17C>G p.P6R missense 0.00000828●●●●●●
31. 46902162 c.307+4G>C splice site 0.00000828●●●●●●
32. 46902179 c.294G>T p.K98N missense 0.00000827●●●●●●
33. 46902471 c.136T>C p.F46L missense 0.00000827●●●●●●
34. 46902172 c.301C>G p.Q101E missense 0.00000827●●●●●●
35. 46902193 c.280C>T p.R94C missense 0.00000826●●●●●●
36. 46904853 c.28_30delAAG p.Lys10del inframe 0.00000826●●●●●●
37. 46899945 c.488G>C p.R163T missense 0.00000826●●●●●●
38. 46899949 c.484G>A p.E162K missense 0.00000826●●●●●●
39. 46899948 c.485A>G p.E162G missense 0.00000826●●●●●●
40. 46904851 c.30G>C p.K10N missense 0.00000826●●●●●●
41. 46902455 c.152T>G p.I51S missense 0.00000826●●●●●●
42. 46899940 c.493A>G p.T165A missense 0.00000825●●●●●●
43. 46904845 c.36T>G p.D12E missense 0.00000825●●●●●●
44. 46902199 c.274G>A p.V92M missense 0.00000825●●●●●●
45. 46902297 c.176T>C p.M59T missense 0.00000824●●●●●●
46. 46902264 c.209_211delAGA p.Lys70del inframe 0.00000824●●●●●●
47. 46902246 c.227G>A p.C76Y missense 0.00000824●●●●●●
48. 46902279 c.194C>G p.P65R missense 0.00000824●●●●●●
49. 46902232 c.241C>T p.R81W missense 0.00000824●●●●●●
50. 46901129 c.317C>A p.T106N missense 0.00000824●●●●●●
51. 46901046 c.400G>T p.V134L missense 0.00000824●●●●●●
52. 46901137 c.309G>A splice site 0.00000824●●●●●●
53. 46904820 c.61C>T p.P21S missense 0.00000824●●●●●●
54. 46902313 c.160T>G p.F54V missense 0.00000824●●●●●●
55. 46900985 c.461G>T p.R154L missense 0.00000824●●●●●●
56. 46899876 c.557A>C p.E186A missense 0.00000824●●●●●●
57. 46904790 c.91C>G p.R31G missense 0.00000824●●●●●●
58. 46902286 c.187C>T p.R63C missense 0.00000824●●●●●●
59. 46901135 c.311T>C p.L104P missense 0.00000824●●●●●●
60. 46901057 c.389A>T p.Y130F missense 0.00000824●●●●●●
61. 46900990 c.456G>T p.E152D missense 0.00000824●●●●●●
62. 46904796 c.85C>G p.P29A missense 0.00000824●●●●●●
63. 46902289 c.184G>A p.D62N missense 0.00000824●●●●●●
64. 46899912 c.521C>T p.A174V missense 0.00000824●●●●●●
65. 46901000 c.446T>C p.M149T missense 0.00000824●●●●●●
66. 46901036 c.410_411insT p.Arg138AlafsTer15 frameshift 0.00000824●●●●●●
67. 46904749 c.129+3G>A splice site 0.00000824●●●●●●
68. 46904775 c.106G>A p.E36K missense 0.00000824●●●●●●
69. 46902271 c.202G>C p.E68Q missense 0.00000824●●●●●●
70. 46901007 c.439A>G p.T147A missense 0.00000824●●●●●●
71. 46902322 c.158-7C>G splice site 0.00000824●●●●●●
72. 46901072 c.374A>G p.K125R missense 0.00000824●●●●●●
73. 46899769 c.560-7T>A splice site 0.00000824●●●●●●
74. 46904799 c.82G>A p.E28K 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.