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. 46904808 c.73C>T p.P25S missense 0.00001648●●●●●●
21. 46904787 c.94C>T p.P32S missense 0.00001648●●●●●●
22. 46904790 c.91C>T p.R31C missense 0.00001648●●●●●●
23. 46901099 c.347C>T p.P116L missense 0.00001647●●●●●●
24. 46900986 c.460C>T p.R154C missense 0.00001647●●●●●●
25. 46900980 c.466G>A p.V156M 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. 46902162 c.307+4G>C splice site 0.00000828●●●●●●
31. 46904864 c.17C>G p.P6R missense 0.00000828●●●●●●
32. 46902172 c.301C>G p.Q101E missense 0.00000827●●●●●●
33. 46902179 c.294G>T p.K98N missense 0.00000827●●●●●●
34. 46902471 c.136T>C p.F46L missense 0.00000827●●●●●●
35. 46899948 c.485A>G p.E162G missense 0.00000826●●●●●●
36. 46904851 c.30G>C p.K10N missense 0.00000826●●●●●●
37. 46902455 c.152T>G p.I51S missense 0.00000826●●●●●●
38. 46899949 c.484G>A p.E162K missense 0.00000826●●●●●●
39. 46902193 c.280C>T p.R94C missense 0.00000826●●●●●●
40. 46904853 c.28_30delAAG p.Lys10del inframe 0.00000826●●●●●●
41. 46899945 c.488G>C p.R163T 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. 46900990 c.456G>T p.E152D missense 0.00000824●●●●●●
46. 46904796 c.85C>G p.P29A missense 0.00000824●●●●●●
47. 46902289 c.184G>A p.D62N missense 0.00000824●●●●●●
48. 46899912 c.521C>T p.A174V missense 0.00000824●●●●●●
49. 46899876 c.557A>C p.E186A missense 0.00000824●●●●●●
50. 46901036 c.410_411insT p.Arg138AlafsTer15 frameshift 0.00000824●●●●●●
51. 46904775 c.106G>A p.E36K missense 0.00000824●●●●●●
52. 46902271 c.202G>C p.E68Q missense 0.00000824●●●●●●
53. 46901007 c.439A>G p.T147A missense 0.00000824●●●●●●
54. 46902322 c.158-7C>G splice site 0.00000824●●●●●●
55. 46899769 c.560-7T>A splice site 0.00000824●●●●●●
56. 46904799 c.82G>A p.E28K missense 0.00000824●●●●●●
57. 46902297 c.176T>C p.M59T missense 0.00000824●●●●●●
58. 46902264 c.209_211delAGA p.Lys70del inframe 0.00000824●●●●●●
59. 46902246 c.227G>A p.C76Y missense 0.00000824●●●●●●
60. 46902279 c.194C>G p.P65R missense 0.00000824●●●●●●
61. 46902232 c.241C>T p.R81W missense 0.00000824●●●●●●
62. 46901046 c.400G>T p.V134L missense 0.00000824●●●●●●
63. 46901129 c.317C>A p.T106N missense 0.00000824●●●●●●
64. 46901137 c.309G>A splice site 0.00000824●●●●●●
65. 46904820 c.61C>T p.P21S missense 0.00000824●●●●●●
66. 46901000 c.446T>C p.M149T missense 0.00000824●●●●●●
67. 46902313 c.160T>G p.F54V missense 0.00000824●●●●●●
68. 46904749 c.129+3G>A splice site 0.00000824●●●●●●
69. 46900985 c.461G>T p.R154L missense 0.00000824●●●●●●
70. 46901072 c.374A>G p.K125R missense 0.00000824●●●●●●
71. 46904790 c.91C>G p.R31G missense 0.00000824●●●●●●
72. 46902286 c.187C>T p.R63C missense 0.00000824●●●●●●
73. 46901135 c.311T>C p.L104P missense 0.00000824●●●●●●
74. 46901057 c.389A>T p.Y130F 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.