MYL2 missense variants in ExAC

MYL2 gene summary
MYL2 variants in HCM, DCM

The table below lists the MYL2 missense 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. 111356964 c.37G>A p.A13T missense 0.00030682●●●●●●
2. 111353547 c.141C>A p.N47K missense 0.00018123●●●●●●
3. 111350901 c.401A>C p.E134A missense 0.00015651●●●●●●
4. 111351095 c.308T>G p.F103C missense 0.00012355●●●●●●
5. 111348952 c.430C>G p.P144A missense 0.00006601●●●●●●
6. 111350943 c.359G>A p.R120Q missense 0.00005766●●●●●●
7. 111348946 c.436G>A p.V146M missense 0.00004123●●●●●●
8. 111350928 c.374C>T p.T125M missense 0.00004118●●●●●●
9. 111350947 c.355G>A p.V119I missense 0.00004118●●●●●●
10. 111351105 c.298C>G p.L100V missense 0.00004118●●●●●●
11. 111352008 c.256T>C p.F86L missense 0.00003295●●●●●●
12. 111348954 c.428C>T p.P143L missense 0.00002475●●●●●●
13. 111348923 c.459G>C p.K153N missense 0.00002472●●●●●●
14. 111350922 c.380C>T p.A127V missense 0.00002471●●●●●●
15. 111356970 c.31G>A p.G11R missense 0.00001662●●●●●●
16. 111356952 c.49G>A p.V17M missense 0.00001655●●●●●●
17. 111348979 c.403G>T p.V135F missense 0.00001655●●●●●●
18. 111348951 c.431C>G p.P144R missense 0.00001650●●●●●●
19. 111348913 c.469C>T p.H157Y missense 0.00001648●●●●●●
20. 111348916 c.466G>T p.V156L missense 0.00001648●●●●●●
21. 111348928 c.454T>C p.Y152H missense 0.00001648●●●●●●
22. 111351099 c.304G>A p.A102T missense 0.00001647●●●●●●
23. 111352023 c.241G>A p.V81M missense 0.00001647●●●●●●
24. 111356994 c.7C>A p.P3T missense 0.00000853●●●●●●
25. 111356973 c.28G>A p.A10T missense 0.00000832●●●●●●
26. 111356970 c.31G>T p.G11W missense 0.00000831●●●●●●
27. 111356967 c.34G>T p.G12C missense 0.00000830●●●●●●
28. 111352091 c.173G>A p.R58Q missense 0.00000828●●●●●●
29. 111356937 c.64G>C p.E22Q missense 0.00000827●●●●●●
30. 111356942 c.59T>A p.M20K missense 0.00000827●●●●●●
31. 111356943 c.58A>G p.M20V missense 0.00000827●●●●●●
32. 111356937 c.64G>A p.E22K missense 0.00000827●●●●●●
33. 111348969 c.413T>A p.M138K missense 0.00000826●●●●●●
34. 111348949 c.433G>A p.D145N missense 0.00000825●●●●●●
35. 111348945 c.437T>C p.V146A missense 0.00000825●●●●●●
36. 111348952 c.430C>A p.P144T missense 0.00000825●●●●●●
37. 111348958 c.424T>G p.F142V missense 0.00000825●●●●●●
38. 111351093 c.310A>G p.K104E missense 0.00000824●●●●●●
39. 111351082 c.321C>A p.D107E missense 0.00000824●●●●●●
40. 111350936 c.366G>T p.M122I missense 0.00000824●●●●●●
41. 111352035 c.229A>G p.I77V missense 0.00000824●●●●●●
42. 111348907 c.475A>G p.I159V missense 0.00000824●●●●●●
43. 111353591 c.97T>C p.F33L missense 0.00000824●●●●●●
44. 111353564 c.124G>T p.G42C missense 0.00000824●●●●●●
45. 111352061 c.203A>G p.E68G missense 0.00000824●●●●●●
46. 111350944 c.358C>G p.R120G missense 0.00000824●●●●●●
47. 111351066 c.337G>T p.V113L missense 0.00000824●●●●●●
48. 111352007 c.257T>C p.F86S missense 0.00000824●●●●●●
49. 111351125 c.278C>T p.A93V missense 0.00000824●●●●●●
50. 111351102 c.301A>G p.N101D 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.