DES non-truncating variants in ExAC

DES gene summary
DES variants in DCM

The table below lists the DES non-truncating variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 220283396 c.212C>T p.A71V missense 0.00008285●●●●●●
2. 220285374 c.893C>T p.S298L missense 0.00008270●●●●●●
3. 220288540 c.1286G>A p.R429Q missense 0.00008238●●●●●●
4. 220285042 c.709G>A p.A237T missense 0.00007429●●●●●●
5. 220283704 c.520G>C p.A174P missense 0.00007133●●●●●●
6. 220283575 c.391C>A p.Q131K missense 0.00006976●●●●●●
7. 220290430 c.1334C>T p.T445M missense 0.00006244●●●●●●
8. 220285596 c.944G>A p.R315H missense 0.00005799●●●●●●
9. 220284976 c.643G>A p.V215M missense 0.00005767●●●●●●
10. 220283377 c.193G>A p.G65S missense 0.00005656●●●●●●
11. 220283645 c.461T>A p.L154H missense 0.00005157●●●●●●
12. 220285596 c.944G>T p.R315L missense 0.00004971●●●●●●
13. 220286102 c.1064G>A p.R355Q missense 0.00004949●●●●●●
14. 220283383 c.199G>A p.G67R missense 0.00004615●●●●●●
15. 220285016 c.683G>T p.R228I missense 0.00004121●●●●●●
16. 220284995 c.662C>T p.A221V missense 0.00004120●●●●●●
17. 220283350 c.166G>C p.V56L missense 0.00004042●●●●●●
18. 220283249 c.65C>G p.P22R missense 0.00003920●●●●●●
19. 220283594 c.410C>T p.A137V missense 0.00003709●●●●●●
20. 220283537 c.353G>A p.R118H missense 0.00003703●●●●●●
21. 220283547 c.363C>G p.N121K missense 0.00003547●●●●●●
22. 220283551 c.367A>G p.I123V missense 0.00003502●●●●●●
23. 220283555 c.371A>G p.E124G missense 0.00003466●●●●●●
24. 220283411 c.227C>T p.T76I missense 0.00003383●●●●●●
25. 220286087 c.1049G>A p.R350Q missense 0.00003301●●●●●●
26. 220286161 c.1123C>T p.R375W missense 0.00003297●●●●●●
27. 220284822 c.584A>C p.Q195P missense 0.00003295●●●●●●
28. 220283408 c.224G>A p.G75E missense 0.00003264●●●●●●
29. 220290397 c.1301A>G p.E434G missense 0.00003188●●●●●●
30. 220283402 c.218G>A p.R73Q missense 0.00003030●●●●●●
31. 220286281 c.1243C>T p.R415W missense 0.00002518●●●●●●
32. 220285298 c.817G>A p.A273T missense 0.00002486●●●●●●
33. 220285589 c.937G>A p.A313T missense 0.00002485●●●●●●
34. 220286065 c.1027G>A p.D343N missense 0.00002484●●●●●●
35. 220286216 c.1178A>G p.N393S missense 0.00002474●●●●●●
36. 220286137 c.1099A>C p.I367L missense 0.00002473●●●●●●
37. 220286185 c.1147C>T p.R383C missense 0.00002473●●●●●●
38. 220288534 c.1280A>G p.N427S missense 0.00002471●●●●●●
39. 220284831 c.593T>C p.I198T missense 0.00002471●●●●●●
40. 220283213 c.29G>A p.R10H missense 0.00002002●●●●●●
41. 220283224 c.40T>C p.Y14H missense 0.00001979●●●●●●
42. 220283369 c.185G>A p.G62E missense 0.00001708●●●●●●
43. 220286086 c.1048C>T p.R350W missense 0.00001651●●●●●●
44. 220286093 c.1055T>C p.L352S missense 0.00001650●●●●●●
45. 220285027 c.694C>T p.L232F missense 0.00001649●●●●●●
46. 220286194 c.1156C>T p.R386C missense 0.00001649●●●●●●
47. 220285000 c.667A>G p.I223V missense 0.00001648●●●●●●
48. 220285013 c.680G>A p.R227H missense 0.00001648●●●●●●
49. 220284840 c.602A>G p.K201R missense 0.00001647●●●●●●
50. 220284847 c.609A>C p.E203D missense 0.00001647●●●●●●
51. 220290459 c.1363G>A p.D455N missense 0.00001628●●●●●●
52. 220283360 c.176C>T p.T59M missense 0.00001497●●●●●●
53. 220283332 c.148A>T p.T50S missense 0.00001226●●●●●●
54. 220283325 c.141C>A p.S47R missense 0.00001199●●●●●●
55. 220283305 c.121G>A p.G41S missense 0.00001146●●●●●●
56. 220283300 c.116G>A p.G39D missense 0.00001124●●●●●●
57. 220283299 c.115G>A p.G39S missense 0.00001122●●●●●●
58. 220283293 c.109C>T p.R37W missense 0.00001108●●●●●●
59. 220283293 c.109C>G p.R37G missense 0.00001108●●●●●●
60. 220283291 c.107C>G p.P36R missense 0.00001103●●●●●●
61. 220283289 c.105C>A p.F35L missense 0.00001095●●●●●●
62. 220283206 c.22A>G p.S8G missense 0.00001014●●●●●●
63. 220283218 c.34T>C p.S12P missense 0.00000995●●●●●●
64. 220283246 c.62C>T p.A21V missense 0.00000982●●●●●●
65. 220283227 c.43C>G p.R15G missense 0.00000982●●●●●●
66. 220283227 c.43C>T p.R15C missense 0.00000982●●●●●●
67. 220283252 c.68G>A p.G23D missense 0.00000979●●●●●●
68. 220283277 c.93T>G p.S31R missense 0.00000952●●●●●●
69. 220285647 c.995C>A p.T332N missense 0.00000835●●●●●●
70. 220285647 c.995C>T p.T332I missense 0.00000835●●●●●●
71. 220285217 c.736G>A p.E246K missense 0.00000831●●●●●●
72. 220285223 c.742C>T p.R248C missense 0.00000831●●●●●●
73. 220285626 c.974G>A p.R325Q missense 0.00000831●●●●●●
74. 220285224 c.743G>A p.R248H missense 0.00000830●●●●●●
75. 220285614 c.962T>A p.M321K missense 0.00000829●●●●●●
76. 220285293 c.812C>T p.T271I missense 0.00000829●●●●●●
77. 220285575 c.923A>G p.N308S missense 0.00000828●●●●●●
78. 220285595 c.943C>T p.R315C missense 0.00000828●●●●●●
79. 220285576 c.924C>A p.N308K missense 0.00000828●●●●●●
80. 220285060 c.727C>T p.H243Y missense 0.00000828●●●●●●
81. 220285356 c.875C>G p.A292G missense 0.00000827●●●●●●
82. 220285556 c.904G>A p.D302N missense 0.00000827●●●●●●
83. 220285568 c.916G>A p.A306T missense 0.00000827●●●●●●
84. 220285314 c.833G>A p.R278Q missense 0.00000826●●●●●●
85. 220285320 c.839A>G p.Q280R missense 0.00000826●●●●●●
86. 220286076 c.1038G>A p.M346I missense 0.00000826●●●●●●
87. 220285344 c.863A>G p.N288S missense 0.00000826●●●●●●
88. 220285043 c.710C>T p.A237V missense 0.00000826●●●●●●
89. 220286227 c.1189G>A p.A397T missense 0.00000825●●●●●●
90. 220285030 c.697A>G p.N233D missense 0.00000825●●●●●●
91. 220286117 c.1079C>T p.A360V missense 0.00000825●●●●●●
92. 220286235 c.1197T>G p.D399E missense 0.00000825●●●●●●
93. 220286104 c.1066T>C p.F356L missense 0.00000825●●●●●●
94. 220286085 c.1047G>A p.M349I missense 0.00000825●●●●●●
95. 220285012 c.679C>A p.R227S missense 0.00000824●●●●●●
96. 220288527 c.1273G>C p.A425P missense 0.00000824●●●●●●
97. 220284976 c.643G>T p.V215L missense 0.00000824●●●●●●
98. 220286132 c.1094A>T p.D365V missense 0.00000824●●●●●●
99. 220290684 c.1385C>A p.A462D missense 0.00000824●●●●●●
100. 220286157 c.1119A>T p.E373D missense 0.00000824●●●●●●
101. 220288530 c.1276C>T p.L426F missense 0.00000824●●●●●●
102. 220284980 c.647A>G p.D216G missense 0.00000824●●●●●●
103. 220286141 c.1103C>T p.A368V missense 0.00000824●●●●●●
104. 220284841 c.603G>C p.K201N missense 0.00000824●●●●●●
105. 220285012 c.679C>T p.R227C missense 0.00000824●●●●●●
106. 220286180 c.1142T>C p.M381T missense 0.00000824●●●●●●
107. 220284822 c.584A>G p.Q195R missense 0.00000824●●●●●●
108. 220284997 c.664C>T p.R222C missense 0.00000824●●●●●●
109. 220288536 c.1282T>G p.F428V missense 0.00000824●●●●●●
110. 220284982 c.649G>A p.A217T missense 0.00000824●●●●●●
111. 220286137 c.1099A>G p.I367V missense 0.00000824●●●●●●
112. 220285009 c.676G>A p.E226K missense 0.00000824●●●●●●
113. 220288516 c.1262A>G p.Q421R missense 0.00000824●●●●●●
114. 220284861 c.623T>G p.L208W missense 0.00000824●●●●●●
115. 220290671 c.1372G>A p.V458I missense 0.00000824●●●●●●
116. 220288540 c.1286G>C p.R429P missense 0.00000824●●●●●●
117. 220284983 c.650C>A p.A217E missense 0.00000824●●●●●●
118. 220288504 c.1250A>G p.N417S missense 0.00000824●●●●●●
119. 220286155 c.1117G>A p.E373K 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.