MYL2 non-truncating variants in ExAC


The table below lists the MYL2 non-truncating 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 frequencyPopulations*
1. 111348952 c.430C>G p.P144A missense 0.00006601
2. 111350943 c.359G>A p.R120Q missense 0.00005766
3. 111348946 c.436G>A p.V146M missense 0.00004123
4. 111350928 c.374C>T p.T125M missense 0.00004118
5. 111351105 c.298C>G p.L100V missense 0.00004118
6. 111350947 c.355G>A p.V119I missense 0.00004118
7. 111352008 c.256T>C p.F86L missense 0.00003295
8. 111348954 c.428C>T p.P143L missense 0.00002475
9. 111348923 c.459G>C p.K153N missense 0.00002472
10. 111350922 c.380C>T p.A127V missense 0.00002471
11. 111356970 c.31G>A p.G11R missense 0.00001662
12. 111356952 c.49G>A p.V17M missense 0.00001655
13. 111348979 c.403G>T p.V135F missense 0.00001655
14. 111348951 c.431C>G p.P144R missense 0.00001650
15. 111348916 c.466G>T p.V156L missense 0.00001648
16. 111348928 c.454T>C p.Y152H missense 0.00001648
17. 111348913 c.469C>T p.H157Y missense 0.00001648
18. 111352023 c.241G>A p.V81M missense 0.00001647
19. 111351099 c.304G>A p.A102T missense 0.00001647
20. 111356994 c.7C>A p.P3T missense 0.00000853
21. 111356973 c.28G>A p.A10T missense 0.00000832
22. 111356970 c.31G>T p.G11W missense 0.00000831
23. 111356967 c.34G>T p.G12C missense 0.00000830
24. 111352091 c.173G>A p.R58Q missense 0.00000828
25. 111356942 c.59T>A p.M20K missense 0.00000827
26. 111356943 c.58A>G p.M20V missense 0.00000827
27. 111356937 c.64G>A p.E22K missense 0.00000827
28. 111356937 c.64G>C p.E22Q missense 0.00000827
29. 111348969 c.413T>A p.M138K missense 0.00000826
30. 111348958 c.424T>G p.F142V missense 0.00000825
31. 111348949 c.433G>A p.D145N missense 0.00000825
32. 111348952 c.430C>A p.P144T missense 0.00000825
33. 111348945 c.437T>C p.V146A missense 0.00000825
34. 111352007 c.257T>C p.F86S missense 0.00000824
35. 111352035 c.229A>G p.I77V missense 0.00000824
36. 111353564 c.124G>T p.G42C missense 0.00000824
37. 111350944 c.358C>G p.R120G missense 0.00000824
38. 111351082 c.321C>A p.D107E missense 0.00000824
39. 111351093 c.310A>G p.K104E missense 0.00000824
40. 111351102 c.301A>G p.N101D missense 0.00000824
41. 111350936 c.366G>T p.M122I missense 0.00000824
42. 111353591 c.97T>C p.F33L missense 0.00000824
43. 111348907 c.475A>G p.I159V missense 0.00000824
44. 111351125 c.278C>T p.A93V missense 0.00000824
45. 111352061 c.203A>G p.E68G missense 0.00000824
46. 111351066 c.337G>T p.V113L 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.