MYL2 variants in ExAC

MYL2 gene summary
MYL2 variants in HCM, DCM

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