MYL2 protein-altering variants in ExAC


The table below lists the MYL2 protein-altering 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. 111350947 c.355G>A p.V119I missense 0.00004118
5. 111351105 c.298C>G p.L100V missense 0.00004118
6. 111350928 c.374C>T p.T125M missense 0.00004118
7. 111352008 c.256T>C p.F86L missense 0.00003295
8. 111348980 c.403-1G>C essential splice site 0.00002482
9. 111348954 c.428C>T p.P143L missense 0.00002475
10. 111348923 c.459G>C p.K153N missense 0.00002472
11. 111350922 c.380C>T p.A127V missense 0.00002471
12. 111356990 c.11_15delAGAAA p.K4Sfs*25 frameshift 0.00001679
13. 111356970 c.31G>A p.G11R missense 0.00001662
14. 111348979 c.403G>T p.V135F missense 0.00001655
15. 111356952 c.49G>A p.V17M missense 0.00001655
16. 111348951 c.431delC frameshift 0.00001650
17. 111348951 c.431C>G p.P144R missense 0.00001650
18. 111348928 c.454T>C p.Y152H missense 0.00001648
19. 111348913 c.469C>T p.H157Y missense 0.00001648
20. 111348916 c.466G>T p.V156L missense 0.00001648
21. 111352023 c.241G>A p.V81M missense 0.00001647
22. 111351099 c.304G>A p.A102T missense 0.00001647
23. 111356994 c.7C>A p.P3T missense 0.00000853
24. 111356973 c.28G>A p.A10T missense 0.00000832
25. 111356909 c.92_93+1delAGG essential splice site 0.00000831
26. 111356970 c.31G>T p.G11W missense 0.00000831
27. 111352100 c.170-6_170-2dupCCCTA essential splice site 0.00000831
28. 111356967 c.34G>T p.G12C missense 0.00000830
29. 111352092 c.172C>T p.R58X nonsense 0.00000829
30. 111352091 c.173G>A p.R58Q missense 0.00000828
31. 111356942 c.59T>A p.M20K missense 0.00000827
32. 111356954 c.47delA p.Asn16ThrfsTer34 frameshift 0.00000827
33. 111356937 c.64G>C p.E22Q missense 0.00000827
34. 111356943 c.58A>G p.M20V missense 0.00000827
35. 111356937 c.64G>A p.E22K missense 0.00000827
36. 111356937 c.64G>T p.E22X nonsense 0.00000827
37. 111348969 c.413T>A p.M138K missense 0.00000826
38. 111348952 c.430C>A p.P144T missense 0.00000825
39. 111348945 c.437T>C p.V146A missense 0.00000825
40. 111348958 c.424T>G p.F142V missense 0.00000825
41. 111348949 c.433G>A p.D145N missense 0.00000825
42. 111353564 c.124G>T p.G42C missense 0.00000824
43. 111351125 c.278C>T p.A93V missense 0.00000824
44. 111350936 c.366G>T p.M122I missense 0.00000824
45. 111351093 c.310A>G p.K104E missense 0.00000824
46. 111353591 c.97T>C p.F33L missense 0.00000824
47. 111351066 c.337G>T p.V113L missense 0.00000824
48. 111352061 c.203A>G p.E68G missense 0.00000824
49. 111352007 c.257T>C p.F86S missense 0.00000824
50. 111351050 c.353_354insG p.Tyr118Ter frameshift 0.00000824
51. 111351082 c.321C>A p.D107E missense 0.00000824
52. 111348907 c.475A>G p.I159V missense 0.00000824
53. 111350944 c.358C>G p.R120G missense 0.00000824
54. 111352035 c.229A>G p.I77V missense 0.00000824
55. 111351130 c.275-2A>G essential splice site 0.00000824
56. 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.