MYL2 variants in ExAC


The table below lists the MYL2 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 frequencyPopulations*
1. 111356964 c.37G>A p.A13T missense 0.00030682
2. 111356937 c.64G>A p.E22K missense 0.00000827
3. 111353547 c.141C>A p.N47K missense 0.00018123
4. 111352091 c.173G>A p.R58Q missense 0.00000828
5. 111351093 c.310A>G p.K104E missense 0.00000824
6. 111350901 c.401A>C p.E134A missense 0.00015651
7. 111348923 c.459G>C p.K153N missense 0.00002472
8. 111350922 c.380C>T p.A127V missense 0.00002471
9. 111350943 c.359G>A p.R120Q missense 0.00005766
10. 111348949 c.433G>A p.D145N missense 0.00000825
11. 111348946 c.436G>A p.V146M missense 0.00004123
12. 111350928 c.374C>T p.T125M missense 0.00004118
13. 111350936 c.366G>T p.M122I missense 0.00000824
14. 111351099 c.304G>A p.A102T missense 0.00001647
15. 111352035 c.229A>G p.I77V missense 0.00000824
16. 111351105 c.298C>G p.L100V missense 0.00004118
17. 111348907 c.475A>G p.I159V missense 0.00000824
18. 111348913 c.469C>T p.H157Y missense 0.00001648
19. 111348916 c.466G>T p.V156L missense 0.00001648
20. 111348928 c.454T>C p.Y152H missense 0.00001648
21. 111348945 c.437T>C p.V146A missense 0.00000825
22. 111348951 c.431C>G p.P144R missense 0.00001650
23. 111348952 c.430C>G p.P144A missense 0.00006601
24. 111348952 c.430C>A p.P144T missense 0.00000825
25. 111348954 c.428C>T p.P143L missense 0.00002475
26. 111348958 c.424T>G p.F142V missense 0.00000825
27. 111348969 c.413T>A p.M138K missense 0.00000826
28. 111348979 c.403G>T p.V135F missense 0.00001655
29. 111350944 c.358C>G p.R120G missense 0.00000824
30. 111350947 c.355G>A p.V119I missense 0.00004118
31. 111351066 c.337G>T p.V113L missense 0.00000824
32. 111351082 c.321C>A p.D107E missense 0.00000824
33. 111351095 c.308T>G p.F103C missense 0.00012355
34. 111351102 c.301A>G p.N101D missense 0.00000824
35. 111351125 c.278C>T p.A93V missense 0.00000824
36. 111352007 c.257T>C p.F86S missense 0.00000824
37. 111352008 c.256T>C p.F86L missense 0.00003295
38. 111352023 c.241G>A p.V81M missense 0.00001647
39. 111352061 c.203A>G p.E68G missense 0.00000824
40. 111353564 c.124G>T p.G42C missense 0.00000824
41. 111353591 c.97T>C p.F33L missense 0.00000824
42. 111356937 c.64G>C p.E22Q missense 0.00000827
43. 111356942 c.59T>A p.M20K missense 0.00000827
44. 111356943 c.58A>G p.M20V missense 0.00000827
45. 111356952 c.49G>A p.V17M missense 0.00001655
46. 111356967 c.34G>T p.G12C missense 0.00000830
47. 111356970 c.31G>A p.G11R missense 0.00001662
48. 111356970 c.31G>T p.G11W missense 0.00000831
49. 111356973 c.28G>A p.A10T missense 0.00000832
50. 111356994 c.7C>A p.P3T missense 0.00000853
51. 111352092 c.172C>T p.R58X nonsense 0.00000829
52. 111356937 c.64G>T p.E22X nonsense 0.00000827
53. 111351044 c.353+6T>A splice site 0.00001647
54. 111351135 c.275-7G>A splice site 0.00014011
55. 111353512 c.169+7C>T splice site 0.00000824
56. 111353597 c.94-3C>T splice site 0.00010713
57. 111358322 c.3+9A>G splice site 0.00018951
58. 111348985 c.403-6T>C splice site 0.00001657
59. 111350894 c.402+6G>C splice site 0.00000824
60. 111350948 c.354C>T splice site 0.00000824
61. 111350951 c.354-3C>T splice site 0.00000824
62. 111350956 c.354-8C>A splice site 0.00001647
63. 111351046 c.353+4A>C splice site 0.00000824
64. 111351127 c.276A>G splice site 0.00000824
65. 111351136 c.275-8C>T splice site 0.00002473
66. 111351982 c.274+8C>T splice site 0.00009065
67. 111351983 c.274+7T>C splice site 0.00002471
68. 111351984 c.274+6G>T splice site 0.00001648
69. 111352092 c.172C>A splice site 0.00001658
70. 111352101 c.170-7A>G splice site 0.00000835
71. 111357005 c.4-8delT splice site 0.00000878
72. 111357005 c.4-8T>C splice site 0.00002642
73. 111348980 c.403-1G>C essential splice site 0.00002482
74. 111351130 c.275-2A>G essential splice site 0.00000824
75. 111352100 c.170-6_170-2dupCCCTA essential splice site 0.00000831
76. 111356909 c.92_93+1delAGG essential splice site 0.00000831
77. 111348951 c.431delC frameshift 0.00001650
78. 111356990 c.11_15delAGAAA p.K4Sfs*25 frameshift 0.00001679
79. 111351050 c.353_354insG p.Tyr118Ter frameshift 0.00000824
80. 111356954 c.47delA p.Asn16ThrfsTer34 frameshift 0.00000827

* 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.