MYH7 splice variants in ExAC

MYH7 gene summary
MYH7 variants in HCM, DCM

The table below lists the MYH7 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. 23902949 c.-8G>A splice site 0.00000832●●●●●●
2. 23902737 c.201+4G>T splice site 0.00000826●●●●●●
3. 23902293 c.345C>T p.Y115Y splice site 0.00005769●●●●●●
4. 23902287 c.345+6T>G splice site 0.00000824●●●●●●
5. 23901842 c.502+6A>G splice site 0.00005765●●●●●●
6. 23901686 c.530+2dupT splice site 0.00000824●●●●●●
7. 23901683 c.530+5G>A splice site 0.00000824●●●●●●
8. 23901682 c.530+6T>C splice site 0.00002471●●●●●●
9. 23901679 c.530+9A>T splice site 0.00005765●●●●●●
10. 23901083 c.531-5C>T splice site 0.00000824●●●●●●
11. 23901078 c.531C>T p.T177T splice site 0.00001648●●●●●●
12. 23900965 c.639+5G>T splice site 0.00000824●●●●●●
13. 23900794 c.732C>T p.F244F splice site 0.18364523●●●●●●
14. 23900698 c.733-8C>T splice site 0.00000824●●●●●●
15. 23900696 c.733-6C>T splice site 0.00000824●●●●●●
16. 23900693 c.733-3C>T splice site 0.00007413●●●●●●
17. 23900620 c.796+7G>A splice site 0.00009884●●●●●●
18. 23900216 c.797-8G>T splice site 0.00000828●●●●●●
19. 23900111 c.894G>A p.L298L splice site 0.00001648●●●●●●
20. 23900105 c.895+5G>A splice site 0.00000824●●●●●●
21. 23899880 c.896-8delT splice site 0.00001669●●●●●●
22. 23899877 c.896-5C>T splice site 0.00001666●●●●●●
23. 23899875 c.896-3T>C splice site 0.00001665●●●●●●
24. 23899129 c.1000-7C>T splice site 0.00007425●●●●●●
25. 23899120 c.1002C>T p.N334N splice site 0.00426209●●●●●●
26. 23898431 c.1257+7C>A splice site 0.00000824●●●●●●
27. 23898164 c.1407T>C p.D469D splice site 0.00003297●●●●●●
28. 23898160 c.1407+4A>C splice site 0.00013189●●●●●●
29. 23897705 c.1578+4C>A splice site 0.00000824●●●●●●
30. 23897110 c.1579-7T>C splice site 0.00000824●●●●●●
31. 23896795 c.1887G>A p.A629A splice site 0.00005909●●●●●●
32. 23896795 c.1887G>T splice site 0.00000844●●●●●●
33. 23896786 c.1888+8G>T splice site 0.00003435●●●●●●
34. 23896523 c.1889-7C>T splice site 0.00000828●●●●●●
35. 23896520 c.1889-4G>A splice site 0.00000827●●●●●●
36. 23896080 c.1957-7G>T splice site 0.00000832●●●●●●
37. 23895982 c.2044+4A>G splice site 0.00001650●●●●●●
38. 23895295 c.2045-5C>T splice site 0.00000851●●●●●●
39. 23895169 c.2162+4G>A splice site 0.00080736●●●●●●
40. 23895167 c.2162+6T>C splice site 0.00000824●●●●●●
41. 23895165 c.2162+8T>A splice site 0.00000824●●●●●●
42. 23895033 c.2163-6C>T splice site 0.00000824●●●●●●
43. 23894897 c.2286+7A>G splice site 0.00001647●●●●●●
44. 23894488 c.2423+3G>A splice site 0.00000824●●●●●●
45. 23894483 c.2423+8A>G splice site 0.00000824●●●●●●
46. 23894241 c.2424-8C>A splice site 0.00001651●●●●●●
47. 23894240 c.2424-7C>T splice site 0.00000825●●●●●●
48. 23894239 c.2424-6delC splice site 0.00000825●●●●●●
49. 23894236 c.2424-3C>T splice site 0.00000825●●●●●●
50. 23893978 c.2679G>A splice site 0.00000824●●●●●●
51. 23893971 c.2679+7C>T splice site 0.00003298●●●●●●
52. 23893116 c.2922G>A p.K974K splice site 0.00003295●●●●●●
53. 23893110 c.2922+6G>C splice site 0.00000824●●●●●●
54. 23892940 c.2923-8G>A splice site 0.00000824●●●●●●
55. 23892939 c.2923-7T>A splice site 0.00000824●●●●●●
56. 23892937 c.2923-5G>A splice site 0.00000824●●●●●●
57. 23892756 c.3099T>C splice site 0.00000824●●●●●●
58. 23892752 c.3099+4A>C splice site 0.00000824●●●●●●
59. 23892750 c.3099+6T>G splice site 0.00000824●●●●●●
60. 23891386 c.3245+3A>T splice site 0.00001649●●●●●●
61. 23890164 c.3336+3G>A splice site 0.00000825●●●●●●
62. 23890161 c.3336+6G>A splice site 0.00000826●●●●●●
63. 23889446 c.3337-3dupC splice site 0.00230069●●●●●●
64. 23889048 c.3726+6C>T splice site 0.00009885●●●●●●
65. 23888693 c.3852T>C p.N1284N splice site 0.00005766●●●●●●
66. 23888689 c.3853+3G>A splice site 0.00000824●●●●●●
67. 23888685 c.3853+7C>T splice site 0.00228991●●●●●●
68. 23888682 c.3853+10G>C splice site 0.00005766●●●●●●
69. 23888509 c.3854-5C>T splice site 0.00001647●●●●●●
70. 23888386 c.3972G>A splice site 0.00000824●●●●●●
71. 23888379 c.3972+7G>C splice site 0.00000824●●●●●●
72. 23887624 c.3973-9_3973-8dupCC splice site 0.00003535●●●●●●
73. 23886903 c.4170-8C>A splice site 0.00004203●●●●●●
74. 23886900 c.4170-5G>A splice site 0.00000837●●●●●●
75. 23886709 c.4353+3G>T splice site 0.00014838●●●●●●
76. 23886709 c.4353+3G>A splice site 0.00000824●●●●●●
77. 23886707 c.4353+5G>A splice site 0.00003298●●●●●●
78. 23886707 c.4353+5G>T splice site 0.00000824●●●●●●
79. 23886706 c.4353+6C>T splice site 0.00000824●●●●●●
80. 23886704 c.4353+8C>A splice site 0.00003298●●●●●●
81. 23886702 c.4353+10G>A splice site 0.00079975●●●●●●
82. 23886537 c.4354-10C>T splice site 0.00002483●●●●●●
83. 23886534 c.4354-7C>G splice site 0.00000827●●●●●●
84. 23886534 c.4354-7C>T splice site 0.00002482●●●●●●
85. 23886533 c.4354-6G>A splice site 0.00002482●●●●●●
86. 23886204 c.4520-3C>T splice site 0.00009061●●●●●●
87. 23886072 c.4644+5G>T splice site 0.00000827●●●●●●
88. 23885529 c.4645-8delC splice site 0.00000845●●●●●●
89. 23885519 c.4647C>T splice site 0.00000841●●●●●●
90. 23884838 c.5157G>A splice site 0.00000824●●●●●●
91. 23884721 c.5158-6A>G splice site 0.00000824●●●●●●
92. 23884713 c.5160C>T splice site 0.00000824●●●●●●
93. 23884583 c.5283+7C>T splice site 0.00001647●●●●●●
94. 23884482 c.5284-3C>T splice site 0.00000824●●●●●●
95. 23884477 c.5286C>A splice site 0.00000824●●●●●●
96. 23884477 c.5286C>T splice site 0.00001647●●●●●●
97. 23884204 c.5559G>A splice site 0.00000827●●●●●●
98. 23884200 c.5559+4C>T splice site 0.00002484●●●●●●
99. 23884199 c.5559+5G>A splice site 0.00003312●●●●●●
100. 23884197 c.5559+7C>T splice site 0.00003312●●●●●●
101. 23884196 c.5559+8G>A splice site 0.00005798●●●●●●
102. 23884193 c.5559+11C>T splice site 0.00003314●●●●●●
103. 23883318 c.5560-7C>T splice site 0.00001653●●●●●●
104. 23883317 c.5560-6C>T splice site 0.00002479●●●●●●
105. 23883315 c.5560-4C>G splice site 0.00000826●●●●●●
106. 23883314 c.5560-3dupC splice site 0.00000826●●●●●●
107. 23883309 c.5562G>A p.T1854T splice site 0.00006604●●●●●●
108. 23883112 c.5656-10C>T splice site 0.00000824●●●●●●
109. 23883107 c.5656-5C>T splice site 0.00004118●●●●●●
110. 23883106 c.5656-4G>A splice site 0.00004118●●●●●●
111. 23882964 c.5790+4G>T splice site 0.00000825●●●●●●
112. 23882961 c.5790+7C>A splice site 0.00002477●●●●●●
113. 23882958 c.5790+10T>C splice site 0.00001652●●●●●●
114. 23882085 c.5791-5A>T splice site 0.00001654●●●●●●
115. 23882078 c.5793C>T p.G1931G splice site 0.00000827●●●●●●
116. 0 c.-8-7A>T splice site 0.00000834●●●●●●

* 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.