MYH11 splice variants in ExAC

MYH11 gene summary
MYH11 variants in

The table below lists the MYH11 splice 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. 15853596 c.1249-11G>C splice site 0.41639010●●●●●●
2. 15842023 c.2061C>T p.S687S splice site 0.06474934●●●●●●
3. 15870032 c.792T>C p.Y264Y splice site 0.03070840●●●●●●
4. 0 c.503-14_503-12delCTT splice site 0.01070886●●●●●●
5. 15811209 c.5296-4C>T splice site 0.00619946●●●●●●
6. 15839103 c.2412-9C>A splice site 0.00438012●●●●●●
7. 15812300 c.5172-5C>T splice site 0.00350202●●●●●●
8. 15820917 c.3652-6C>T splice site 0.00259507●●●●●●
9. 15826416 c.3651+5delT splice site 0.00221607●●●●●●
10. 15814692 c.4791+4C>T splice site 0.00217535●●●●●●
11. 15810989 c.5504+8G>C splice site 0.00165790●●●●●●
12. 15815276 c.4578+3A>G splice site 0.00145033●●●●●●
13. 15808755 c.5786+11C>T splice site 0.00032463●●●●●●
14. 15808945 c.5614-7G>A splice site 0.00020691●●●●●●
15. 15851676 c.1575+8delG splice site 0.00018980●●●●●●
16. 15851677 c.1575+7G>A splice site 0.00015683●●●●●●
17. 15831300 c.3293+6G>A splice site 0.00015680●●●●●●
18. 15865427 c.1032A>G p.L344L splice site 0.00015655●●●●●●
19. 15838978 c.2520+8C>A splice site 0.00014885●●●●●●
20. 15814914 c.4579-6C>T splice site 0.00013231●●●●●●
21. 15831308 c.3291C>T p.A1097A splice site 0.00011549●●●●●●
22. 15851677 c.1575+7_1575+8insTGCCC splice site 0.00009905●●●●●●
23. 15810990 c.5504+7G>A splice site 0.00009898●●●●●●
24. 15835532 c.2653-6G>C splice site 0.00009061●●●●●●
25. 15932126 c.-17G>C splice site 0.00006730●●●●●●
26. 15808943 c.5614-5G>A splice site 0.00006620●●●●●●
27. 15831300 c.3293+6G>C splice site 0.00006602●●●●●●
28. 15835532 c.2653-6G>A splice site 0.00006590●●●●●●
29. 15847252 c.1863C>T p.D621D splice site 0.00005778●●●●●●
30. 15818008 c.4365+10G>A splice site 0.00005769●●●●●●
31. 15841429 c.2409A>G splice site 0.00005766●●●●●●
32. 15851865 c.1402-8G>C splice site 0.00004942●●●●●●
33. 15808944 c.5614-6C>T splice site 0.00004138●●●●●●
34. 15831299 c.3293+7G>A splice site 0.00004126●●●●●●
35. 15835533 c.2653-7C>T splice site 0.00004119●●●●●●
36. 15811208 c.5296-3C>G splice site 0.00003354●●●●●●
37. 15812301 c.5172-6C>T splice site 0.00003152●●●●●●
38. 15818272 c.4117-6T>G splice site 0.00002531●●●●●●
39. 15880487 c.633G>T splice site 0.00002492●●●●●●
40. 15826414 c.3651+7C>G splice site 0.00002482●●●●●●
41. 15850375 c.1576-4A>G splice site 0.00002476●●●●●●
42. 15853589 c.1249-4dupG splice site 0.00002476●●●●●●
43. 15876242 c.726C>T p.F242F splice site 0.00002473●●●●●●
44. 15814691 c.4791+5G>A splice site 0.00002472●●●●●●
45. 15880593 c.531-4T>C splice site 0.00001780●●●●●●
46. 15818847 c.3861T>C p.N1287N splice site 0.00001711●●●●●●
47. 15818273 c.4117-7C>T splice site 0.00001688●●●●●●
48. 15812163 c.5295+9C>T splice site 0.00001667●●●●●●
49. 15820699 c.3858+6G>A splice site 0.00001661●●●●●●
50. 15880487 c.633G>A splice site 0.00001661●●●●●●
51. 15808946 c.5614-8C>T splice site 0.00001656●●●●●●
52. 15815271 c.4578+8G>C splice site 0.00001649●●●●●●
53. 15835611 c.2652+6T>G splice site 0.00001647●●●●●●
54. 15917266 c.348G>A splice site 0.00001647●●●●●●
55. 15835524 c.2655G>A splice site 0.00001647●●●●●●
56. 15814175 c.4792-6G>C splice site 0.00000971●●●●●●
57. 15814175 c.4792-6G>A splice site 0.00000971●●●●●●
58. 15814174 c.4792-5C>T splice site 0.00000968●●●●●●
59. 15814167 c.4794T>A splice site 0.00000931●●●●●●
60. 15813172 c.5083-7_5083-4delCACC splice site 0.00000847●●●●●●
61. 15813169 c.5083-4C>G splice site 0.00000847●●●●●●
62. 15818270 c.4117-4G>A splice site 0.00000844●●●●●●
63. 15850193 c.1749+5C>T splice site 0.00000841●●●●●●
64. 15850194 c.1749+4C>G splice site 0.00000840●●●●●●
65. 15932125 c.-16G>A splice site 0.00000840●●●●●●
66. 15811203 c.5298C>T splice site 0.00000838●●●●●●
67. 15932124 c.-15_-14delGAinsGT splice site 0.00000838●●●●●●
68. 15932124 c.-15_-14delGAinsA splice site 0.00000838●●●●●●
69. 15842028 c.2059-3C>T splice site 0.00000838●●●●●●
70. 15839102 c.2412-8C>T splice site 0.00000833●●●●●●
71. 15839102 c.2412-8C>G splice site 0.00000833●●●●●●
72. 15839098 c.2412-4C>T splice site 0.00000831●●●●●●
73. 15820698 c.3858+7A>G splice site 0.00000831●●●●●●
74. 15808760 c.5786+6G>A splice site 0.00000830●●●●●●
75. 15831476 c.3123G>C splice site 0.00000829●●●●●●
76. 15808943 c.5614-5G>T splice site 0.00000828●●●●●●
77. 15808946 c.5614-8delC splice site 0.00000828●●●●●●
78. 15835315 c.2859+5G>C splice site 0.00000827●●●●●●
79. 15853592 c.1249-7T>C splice site 0.00000827●●●●●●
80. 15835316 c.2859+4A>C splice site 0.00000827●●●●●●
81. 15835753 c.2521-5_2521-4dupTG splice site 0.00000827●●●●●●
82. 15809133 c.5505-4G>A splice site 0.00000827●●●●●●
83. 15853591 c.1249-6_1249-5dupCT splice site 0.00000826●●●●●●
84. 15809013 c.5613+8_5613+9delCT splice site 0.00000826●●●●●●
85. 15814913 c.4579-5G>A splice site 0.00000826●●●●●●
86. 15865577 c.890-8C>G splice site 0.00000826●●●●●●
87. 15865576 c.890-7C>T splice site 0.00000826●●●●●●
88. 15838983 c.2520+3G>T splice site 0.00000826●●●●●●
89. 15865575 c.890-6T>A splice site 0.00000826●●●●●●
90. 15810990 c.5504+7G>T splice site 0.00000825●●●●●●
91. 15847368 c.1750-3C>T splice site 0.00000825●●●●●●
92. 15831301 c.3293+5C>T splice site 0.00000825●●●●●●
93. 15810991 c.5504+6C>T splice site 0.00000825●●●●●●
94. 15841896 c.2180+8C>T splice site 0.00000825●●●●●●
95. 15809017 c.5613+4G>A splice site 0.00000825●●●●●●
96. 15810999 c.5502C>G splice site 0.00000825●●●●●●
97. 15841896 c.2180+8C>A splice site 0.00000825●●●●●●
98. 15850378 c.1576-7C>G splice site 0.00000825●●●●●●
99. 15851681 c.1575+3G>A splice site 0.00000825●●●●●●
100. 15865427 c.1032A>T splice site 0.00000824●●●●●●
101. 15841800 c.2181C>T splice site 0.00000824●●●●●●
102. 15797990 c.5787-10C>A splice site 0.00000824●●●●●●
103. 15818010 c.4365+8G>C splice site 0.00000824●●●●●●
104. 15835529 c.2653-3C>T splice site 0.00000824●●●●●●
105. 15815495 c.4366-4G>A splice site 0.00000824●●●●●●
106. 15835611 c.2652+6T>C splice site 0.00000824●●●●●●
107. 15829215 c.3506+8G>A splice site 0.00000824●●●●●●
108. 15917266 c.348G>T splice site 0.00000824●●●●●●
109. 15865419 c.1033+7C>G splice site 0.00000824●●●●●●
110. 15815497 c.4366-6T>C splice site 0.00000824●●●●●●
111. 15931758 c.345+7A>G splice site 0.00000824●●●●●●
112. 15835613 c.2652+4_2652+5delCC splice site 0.00000824●●●●●●
113. 15829220 c.3506+3G>T splice site 0.00000824●●●●●●
114. 15931763 c.345+2dupT splice site 0.00000824●●●●●●
115. 15865420 c.1033+6C>T splice site 0.00000824●●●●●●
116. 15834052 c.2860-7A>G splice site 0.00000824●●●●●●
117. 15818739 c.3963+6T>C splice site 0.00000824●●●●●●
118. 15815499 c.4366-8T>C splice site 0.00000824●●●●●●
119. 15813435 c.5082+7C>A splice site 0.00000824●●●●●●
120. 15797987 c.5787-7C>T splice site 0.00000824●●●●●●
121. 15815273 c.4578+6T>A splice site 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.