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. 111351105 c.298C>G p.L100V missense 0.00004118●●●●●●
13. 111350928 c.374C>T p.T125M missense 0.00004118●●●●●●
14. 111350947 c.355G>A p.V119I 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.431delC frameshift 0.00001650●●●●●●
30. 111348951 c.431C>G p.P144R missense 0.00001650●●●●●●
31. 111348913 c.469C>T p.H157Y missense 0.00001648●●●●●●
32. 111348928 c.454T>C p.Y152H missense 0.00001648●●●●●●
33. 111348916 c.466G>T p.V156L missense 0.00001648●●●●●●
34. 111351984 c.274+6G>T splice site 0.00001648●●●●●●
35. 111350956 c.354-8C>A splice site 0.00001647●●●●●●
36. 111352023 c.241G>A p.V81M missense 0.00001647●●●●●●
37. 111351044 c.353+6T>A splice site 0.00001647●●●●●●
38. 111351099 c.304G>A p.A102T 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. 111352100 c.170-6_170-2dupCCCTA essential splice site 0.00000831●●●●●●
45. 111356970 c.31G>T p.G11W missense 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>A p.E22K missense 0.00000827●●●●●●
51. 111356943 c.58A>G p.M20V missense 0.00000827●●●●●●
52. 111356942 c.59T>A p.M20K missense 0.00000827●●●●●●
53. 111356937 c.64G>C p.E22Q missense 0.00000827●●●●●●
54. 111356937 c.64G>T p.E22X nonsense 0.00000827●●●●●●
55. 111348969 c.413T>A p.M138K missense 0.00000826●●●●●●
56. 111348949 c.433G>A p.D145N missense 0.00000825●●●●●●
57. 111348945 c.437T>C p.V146A missense 0.00000825●●●●●●
58. 111348958 c.424T>G p.F142V missense 0.00000825●●●●●●
59. 111348952 c.430C>A p.P144T missense 0.00000825●●●●●●
60. 111351093 c.310A>G p.K104E missense 0.00000824●●●●●●
61. 111351130 c.275-2A>G essential splice site 0.00000824●●●●●●
62. 111350936 c.366G>T p.M122I missense 0.00000824●●●●●●
63. 111352035 c.229A>G p.I77V missense 0.00000824●●●●●●
64. 111353512 c.169+7C>T splice site 0.00000824●●●●●●
65. 111348907 c.475A>G p.I159V missense 0.00000824●●●●●●
66. 111351127 c.276A>G splice site 0.00000824●●●●●●
67. 111351046 c.353+4A>C splice site 0.00000824●●●●●●
68. 111350951 c.354-3C>T splice site 0.00000824●●●●●●
69. 111350948 c.354C>T splice site 0.00000824●●●●●●
70. 111350894 c.402+6G>C splice site 0.00000824●●●●●●
71. 111350944 c.358C>G p.R120G missense 0.00000824●●●●●●
72. 111351066 c.337G>T p.V113L missense 0.00000824●●●●●●
73. 111351050 c.353_354insG p.Tyr118Ter frameshift 0.00000824●●●●●●
74. 111351082 c.321C>A p.D107E missense 0.00000824●●●●●●
75. 111351102 c.301A>G p.N101D missense 0.00000824●●●●●●
76. 111351125 c.278C>T p.A93V missense 0.00000824●●●●●●
77. 111352007 c.257T>C p.F86S missense 0.00000824●●●●●●
78. 111352061 c.203A>G p.E68G missense 0.00000824●●●●●●
79. 111353564 c.124G>T p.G42C missense 0.00000824●●●●●●
80. 111353591 c.97T>C p.F33L 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.