MYH6 splice variants in ExAC

MYH6 gene summary
MYH6 variants in DCM

The table below lists the MYH6 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. 23856861 c.4527G>A p.E1509E splice site 0.01137524●●●●●●
2. 23857139 c.4360-7C>G splice site 0.00010008●●●●●●
3. 23858271 c.3979-7delT splice site 0.00359728●●●●●●
4. 23862870 c.2928+5G>A splice site 0.00176259●●●●●●
5. 23857139 c.4360-7C>T splice site 0.00345276●●●●●●
6. 23869918 c.1410C>T p.D470D splice site 0.00018958●●●●●●
7. 23851777 c.5662-6C>T splice site 0.00003295●●●●●●
8. 23851777 c.5662-6C>A splice site 0.00000824●●●●●●
9. 23855133 c.5163+4A>C splice site 0.00000830●●●●●●
10. 23863540 c.2430-8C>G splice site 0.00006640●●●●●●
11. 23873602 c.643-5C>T splice site 0.00038727●●●●●●
12. 23876445 c.-13G>A splice site 0.00000825●●●●●●
13. 23858594 c.3978+8C>T splice site 0.00033781●●●●●●
14. 23858723 c.3860-3C>T splice site 0.00001647●●●●●●
15. 23862546 c.3105+5G>C splice site 0.00000824●●●●●●
16. 23862730 c.2929-3C>T splice site 0.00000824●●●●●●
17. 23862867 c.2928+8C>A splice site 0.00000824●●●●●●
18. 23863121 c.2686-4C>T splice site 0.00000824●●●●●●
19. 23863536 c.2430-4C>A splice site 0.00005802●●●●●●
20. 23866754 c.1960C>A p.R654R splice site 0.00001649●●●●●●
21. 23868253 c.1582-7C>T splice site 0.00003297●●●●●●
22. 23871665 c.1141+8G>T splice site 0.00018137●●●●●●
23. 23872551 c.898+6C>T splice site 0.00005766●●●●●●
24. 23873916 c.642+4C>T splice site 0.00002476●●●●●●
25. 23873917 c.642+3G>C splice site 0.00000825●●●●●●
26. 23874303 c.530+6C>T splice site 0.00002472●●●●●●
27. 23858271 c.3979-7dupT splice site 0.00169151●●●●●●
28. 23852425 c.5661+9A>G splice site 0.00005770●●●●●●
29. 23853641 c.5565+10A>G splice site 0.00000826●●●●●●
30. 23853646 c.5565+5G>C splice site 0.00000826●●●●●●
31. 23855349 c.4960-9G>A splice site 0.00164520●●●●●●
32. 23856869 c.4526-7T>G splice site 0.00000824●●●●●●
33. 23856871 c.4526-9G>C splice site 0.00001647●●●●●●
34. 23857353 c.4359+11G>A splice site 0.00000824●●●●●●
35. 23857355 c.4359+9T>C splice site 0.00005768●●●●●●
36. 23857360 c.4359+4G>T splice site 0.00000824●●●●●●
37. 23857557 c.4176-10A>C splice site 0.00000835●●●●●●
38. 23857558 c.4176-11C>T splice site 0.00000838●●●●●●
39. 23858274 c.3979-10C>G splice site 0.00026021●●●●●●
40. 23858275 c.3979-11C>G splice site 0.01217861●●●●●●
41. 23861761 c.3342+10T>C splice site 0.00003295●●●●●●
42. 23863127 c.2686-10C>T splice site 0.00000824●●●●●●
43. 23863266 c.2685+11G>A splice site 0.00007413●●●●●●
44. 23865893 c.2292+10G>C splice site 0.00000824●●●●●●
45. 23869455 c.1581+10delT splice site 0.00018128●●●●●●
46. 23872662 c.800-7A>C splice site 0.00012360●●●●●●
47. 23872666 c.800-11A>G splice site 0.75650833●●●●●●
48. 23872994 c.736-7T>A splice site 0.00001182●●●●●●
49. 23874426 c.502+6C>A splice site 0.00000824●●●●●●
50. 23858272 c.3979-8C>T splice site 0.02308161●●●●●●
51. 23858272 c.3979-8C>G splice site 0.00834348●●●●●●
52. 23858273 c.3979-9C>G splice site 0.01540124●●●●●●
53. 23858273 c.3979-9C>A splice site 0.00193641●●●●●●
54. 23858271 c.3979-7_3979-6insC splice site 0.00031614●●●●●●
55. 23858271 c.3979-7_3979-3delTCCCC splice site 0.00001129●●●●●●
56. 23851629 c.5796+8C>G splice site 0.00000824●●●●●●
57. 23851633 c.5796+4G>A splice site 0.00000824●●●●●●
58. 23851637 c.5796G>A splice site 0.00001647●●●●●●
59. 23852429 c.5661+5G>C splice site 0.00000824●●●●●●
60. 23852431 c.5661+3G>A splice site 0.00000824●●●●●●
61. 23852434 c.5661G>A splice site 0.00002473●●●●●●
62. 23852535 c.5566-6C>T splice site 0.00002653●●●●●●
63. 23853643 c.5565+8_5565+9insTT splice site 0.00002478●●●●●●
64. 23853643 c.5565+8G>A splice site 0.00002478●●●●●●
65. 23853644 c.5565+7C>T splice site 0.00000826●●●●●●
66. 23853646 c.5565+5G>T splice site 0.00000826●●●●●●
67. 23853647 c.5565+4C>T splice site 0.00000826●●●●●●
68. 23853924 c.5292C>T splice site 0.00007421●●●●●●
69. 23853930 c.5290-4A>G splice site 0.00001649●●●●●●
70. 23854254 c.5164-4C>G splice site 0.00000824●●●●●●
71. 23854257 c.5164-7T>C splice site 0.00000824●●●●●●
72. 23855346 c.4960-6G>C splice site 0.00000826●●●●●●
73. 23855835 c.4651-3C>A splice site 0.00017802●●●●●●
74. 23855836 c.4651-4C>A splice site 0.00001696●●●●●●
75. 23855836 c.4651-4C>T splice site 0.00000848●●●●●●
76. 23856732 c.4650+6G>A splice site 0.00000824●●●●●●
77. 23856866 c.4526-4C>T splice site 0.00000824●●●●●●
78. 23856964 c.4525+3G>A splice site 0.00003295●●●●●●
79. 23857135 c.4360-3C>T splice site 0.00002500●●●●●●
80. 23857138 c.4360-6G>A splice site 0.00001667●●●●●●
81. 23857553 c.4176-6G>T splice site 0.00000833●●●●●●
82. 23858271 c.3979-7_3979-4delTCCC splice site 0.00007092●●●●●●
83. 23858267 c.3979-3C>G splice site 0.00002364●●●●●●
84. 23858271 c.3979-7_3979-6delTC splice site 0.00001126●●●●●●
85. 23858272 c.3979-8C>A splice site 0.00036541●●●●●●
86. 23858272 c.3979-8_3979-7insA splice site 0.00006090●●●●●●
87. 23858597 c.3978+5G>C splice site 0.00000824●●●●●●
88. 23858728 c.3860-8A>G splice site 0.00002471●●●●●●
89. 23858795 c.3859+7G>A splice site 0.00002471●●●●●●
90. 23861870 c.3252-9_3252-5delCTCCT splice site 0.00001648●●●●●●
91. 23862272 c.3106-6C>T splice site 0.00000824●●●●●●
92. 23862875 c.2928G>A splice site 0.00001647●●●●●●
93. 23863122 c.2686-5C>T splice site 0.00007418●●●●●●
94. 23863271 c.2685+6G>A splice site 0.00000824●●●●●●
95. 23863271 c.2685+6G>T splice site 0.00000824●●●●●●
96. 23863277 c.2685G>A splice site 0.00014003●●●●●●
97. 23865486 c.2429+7C>T splice site 0.00000824●●●●●●
98. 23865634 c.2293-5_2293-4insAG splice site 0.00000845●●●●●●
99. 23865634 c.2293-5T>A splice site 0.00000846●●●●●●
100. 23865896 c.2292+7C>A splice site 0.00004942●●●●●●
101. 23865900 c.2292+3G>C splice site 0.00000824●●●●●●
102. 23865900 c.2292+3G>A splice site 0.00000824●●●●●●
103. 23866031 c.2169-5C>T splice site 0.00001647●●●●●●
104. 23866032 c.2169-6C>T splice site 0.00000824●●●●●●
105. 23867932 c.1891+5G>A splice site 0.00000824●●●●●●
106. 23871667 c.1141+6A>T splice site 0.00000825●●●●●●
107. 23871669 c.1141+4G>T splice site 0.00000824●●●●●●
108. 23871815 c.1003-4C>G splice site 0.00001649●●●●●●
109. 23871900 c.1002+6T>G splice site 0.00000826●●●●●●
110. 23871900 c.1002+6T>C splice site 0.00000826●●●●●●
111. 23872016 c.899-7G>T splice site 0.00001696●●●●●●
112. 23872551 c.898+6C>A splice site 0.00008237●●●●●●
113. 23872660 c.800-5C>T splice site 0.00008240●●●●●●
114. 23872663 c.800-8C>A splice site 0.00000824●●●●●●
115. 23872995 c.736-8G>A splice site 0.00003557●●●●●●
116. 23873600 c.643-3T>C splice site 0.00001648●●●●●●
117. 23874036 c.531-5C>T splice site 0.00000825●●●●●●
118. 23874037 c.531-6C>T splice site 0.00002474●●●●●●
119. 23874424 c.502+8T>A splice site 0.00000824●●●●●●
120. 23874427 c.502+5G>A splice site 0.00000824●●●●●●
121. 23874836 c.345T>C splice site 0.00000826●●●●●●
122. 23874977 c.204G>A splice site 0.00001647●●●●●●
123. 23874984 c.202-5T>A splice site 0.00000824●●●●●●
124. 23874985 c.202-6C>T splice site 0.00000824●●●●●●
125. 23876232 c.201G>A splice site 0.00000825●●●●●●
126. 23876444 c.-12G>A splice site 0.00000825●●●●●●
127. 0 c.-13-7G>T splice site 0.00000826●●●●●●

* 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.