DES protein-altering variants in ExAC

DES gene summary
DES variants in DCM

The table below lists the DES protein-altering 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. 220283206 c.22A>G p.S8G missense 0.00001014●●●●●●
2. 220283213 c.29G>A p.R10H missense 0.00002002●●●●●●
3. 220283218 c.34T>C p.S12P missense 0.00000995●●●●●●
4. 220283224 c.40T>C p.Y14H missense 0.00001979●●●●●●
5. 220283227 c.43C>G p.R15G missense 0.00000982●●●●●●
6. 220283227 c.43C>T p.R15C missense 0.00000982●●●●●●
7. 220283246 c.62C>T p.A21V missense 0.00000982●●●●●●
8. 220283249 c.65C>G p.P22R missense 0.00003920●●●●●●
9. 220283252 c.68G>A p.G23D missense 0.00000979●●●●●●
10. 220283277 c.93T>G p.S31R missense 0.00000952●●●●●●
11. 220283289 c.105C>A p.F35L missense 0.00001095●●●●●●
12. 220283291 c.107C>G p.P36R missense 0.00001103●●●●●●
13. 220283293 c.109C>T p.R37W missense 0.00001108●●●●●●
14. 220283293 c.109C>G p.R37G missense 0.00001108●●●●●●
15. 220283299 c.115G>A p.G39S missense 0.00001122●●●●●●
16. 220283300 c.116G>A p.G39D missense 0.00001124●●●●●●
17. 220283305 c.121G>A p.G41S missense 0.00001146●●●●●●
18. 220283325 c.141C>A p.S47R missense 0.00001199●●●●●●
19. 220283332 c.148A>T p.T50S missense 0.00001226●●●●●●
20. 220283350 c.166G>C p.V56L missense 0.00004042●●●●●●
21. 220283360 c.176C>T p.T59M missense 0.00001497●●●●●●
22. 220283369 c.185G>A p.G62E missense 0.00001708●●●●●●
23. 220283377 c.193G>A p.G65S missense 0.00005656●●●●●●
24. 220283383 c.199G>A p.G67R missense 0.00004615●●●●●●
25. 220283396 c.212C>T p.A71V missense 0.00008285●●●●●●
26. 220283402 c.218G>A p.R73Q missense 0.00003030●●●●●●
27. 220283408 c.224G>A p.G75E missense 0.00003264●●●●●●
28. 220283411 c.227C>T p.T76I missense 0.00003383●●●●●●
29. 220283443 c.259G>T p.E87X nonsense 0.00004147●●●●●●
30. 220283537 c.353G>A p.R118H missense 0.00003703●●●●●●
31. 220283547 c.363C>G p.N121K missense 0.00003547●●●●●●
32. 220283551 c.367A>G p.I123V missense 0.00003502●●●●●●
33. 220283553 c.369delC p.Ile123MetfsTer18 frameshift 0.00007007●●●●●●
34. 220283555 c.371A>G p.E124G missense 0.00003466●●●●●●
35. 220283575 c.391C>A p.Q131K missense 0.00006976●●●●●●
36. 220283594 c.410C>T p.A137V missense 0.00003709●●●●●●
37. 220283645 c.461T>A p.L154H missense 0.00005157●●●●●●
38. 220283704 c.520G>C p.A174P missense 0.00007133●●●●●●
39. 220284822 c.584A>C p.Q195P missense 0.00003295●●●●●●
40. 220284822 c.584A>G p.Q195R missense 0.00000824●●●●●●
41. 220284831 c.593T>C p.I198T missense 0.00002471●●●●●●
42. 220284840 c.602A>G p.K201R missense 0.00001647●●●●●●
43. 220284841 c.603G>C p.K201N missense 0.00000824●●●●●●
44. 220284847 c.609A>C p.E203D missense 0.00001647●●●●●●
45. 220284861 c.623T>G p.L208W missense 0.00000824●●●●●●
46. 220284872 c.634C>T p.R212X nonsense 0.00001647●●●●●●
47. 220284976 c.643G>A p.V215M missense 0.00005767●●●●●●
48. 220284976 c.643G>T p.V215L missense 0.00000824●●●●●●
49. 220284980 c.647A>G p.D216G missense 0.00000824●●●●●●
50. 220284982 c.649G>A p.A217T missense 0.00000824●●●●●●
51. 220284983 c.650C>A p.A217E missense 0.00000824●●●●●●
52. 220284995 c.662C>T p.A221V missense 0.00004120●●●●●●
53. 220284997 c.664C>T p.R222C missense 0.00000824●●●●●●
54. 220285000 c.667A>G p.I223V missense 0.00001648●●●●●●
55. 220285009 c.676G>A p.E226K missense 0.00000824●●●●●●
56. 220285012 c.679C>A p.R227S missense 0.00000824●●●●●●
57. 220285012 c.679C>T p.R227C missense 0.00000824●●●●●●
58. 220285013 c.680G>A p.R227H missense 0.00001648●●●●●●
59. 220285016 c.683G>T p.R228I missense 0.00004121●●●●●●
60. 220285027 c.694C>T p.L232F missense 0.00001649●●●●●●
61. 220285030 c.697A>G p.N233D missense 0.00000825●●●●●●
62. 220285042 c.709G>A p.A237T missense 0.00007429●●●●●●
63. 220285043 c.710C>T p.A237V missense 0.00000826●●●●●●
64. 220285060 c.727C>T p.H243Y missense 0.00000828●●●●●●
65. 220285217 c.736G>A p.E246K missense 0.00000831●●●●●●
66. 220285223 c.742C>T p.R248C missense 0.00000831●●●●●●
67. 220285224 c.743G>A p.R248H missense 0.00000830●●●●●●
68. 220285293 c.812C>T p.T271I missense 0.00000829●●●●●●
69. 220285298 c.817G>A p.A273T missense 0.00002486●●●●●●
70. 220285314 c.833G>A p.R278Q missense 0.00000826●●●●●●
71. 220285320 c.839A>G p.Q280R missense 0.00000826●●●●●●
72. 220285344 c.863A>G p.N288S missense 0.00000826●●●●●●
73. 220285356 c.875C>G p.A292G missense 0.00000827●●●●●●
74. 220285374 c.893C>T p.S298L missense 0.00008270●●●●●●
75. 220285556 c.904G>A p.D302N missense 0.00000827●●●●●●
76. 220285568 c.916G>A p.A306T missense 0.00000827●●●●●●
77. 220285575 c.923A>G p.N308S missense 0.00000828●●●●●●
78. 220285576 c.924C>A p.N308K missense 0.00000828●●●●●●
79. 220285589 c.937G>A p.A313T missense 0.00002485●●●●●●
80. 220285595 c.943C>T p.R315C missense 0.00000828●●●●●●
81. 220285596 c.944G>A p.R315H missense 0.00005799●●●●●●
82. 220285596 c.944G>T p.R315L missense 0.00004971●●●●●●
83. 220285614 c.962T>A p.M321K missense 0.00000829●●●●●●
84. 220285626 c.974G>A p.R325Q missense 0.00000831●●●●●●
85. 220285637 c.985C>T p.Q329X nonsense 0.00000833●●●●●●
86. 220285647 c.995C>T p.T332I missense 0.00000835●●●●●●
87. 220285647 c.995C>A p.T332N missense 0.00000835●●●●●●
88. 220286065 c.1027G>A p.D343N missense 0.00002484●●●●●●
89. 220286076 c.1038G>A p.M346I missense 0.00000826●●●●●●
90. 220286085 c.1047G>A p.M349I missense 0.00000825●●●●●●
91. 220286086 c.1048C>T p.R350W missense 0.00001651●●●●●●
92. 220286087 c.1049G>A p.R350Q missense 0.00003301●●●●●●
93. 220286093 c.1055T>C p.L352S missense 0.00001650●●●●●●
94. 220286101 c.1063C>T p.R355X nonsense 0.00000825●●●●●●
95. 220286102 c.1064G>A p.R355Q missense 0.00004949●●●●●●
96. 220286104 c.1066T>C p.F356L missense 0.00000825●●●●●●
97. 220286117 c.1079C>T p.A360V missense 0.00000825●●●●●●
98. 220286132 c.1094A>T p.D365V missense 0.00000824●●●●●●
99. 220286137 c.1099A>C p.I367L missense 0.00002473●●●●●●
100. 220286137 c.1099A>G p.I367V missense 0.00000824●●●●●●
101. 220286141 c.1103C>T p.A368V missense 0.00000824●●●●●●
102. 220286155 c.1117G>A p.E373K missense 0.00000824●●●●●●
103. 220286157 c.1119A>T p.E373D missense 0.00000824●●●●●●
104. 220286161 c.1123C>T p.R375W missense 0.00003297●●●●●●
105. 220286180 c.1142T>C p.M381T missense 0.00000824●●●●●●
106. 220286185 c.1147C>T p.R383C missense 0.00002473●●●●●●
107. 220286194 c.1156C>T p.R386C missense 0.00001649●●●●●●
108. 220286216 c.1178A>G p.N393S missense 0.00002474●●●●●●
109. 220286227 c.1189G>A p.A397T missense 0.00000825●●●●●●
110. 220286235 c.1197T>G p.D399E missense 0.00000825●●●●●●
111. 220286281 c.1243C>T p.R415W missense 0.00002518●●●●●●
112. 220288504 c.1250A>G p.N417S missense 0.00000824●●●●●●
113. 220288516 c.1262A>G p.Q421R missense 0.00000824●●●●●●
114. 220288527 c.1273G>C p.A425P missense 0.00000824●●●●●●
115. 220288530 c.1276C>T p.L426F missense 0.00000824●●●●●●
116. 220288534 c.1280A>G p.N427S missense 0.00002471●●●●●●
117. 220288536 c.1282T>G p.F428V missense 0.00000824●●●●●●
118. 220288539 c.1285C>T p.R429X nonsense 0.00001648●●●●●●
119. 220288540 c.1286G>A p.R429Q missense 0.00008238●●●●●●
120. 220288540 c.1286G>C p.R429P missense 0.00000824●●●●●●
121. 220288543 c.1288+1G>A essential splice site 0.00001648●●●●●●
122. 220290397 c.1301A>G p.E434G missense 0.00003188●●●●●●
123. 220290430 c.1334C>T p.T445M missense 0.00006244●●●●●●
124. 220290459 c.1363G>A p.D455N missense 0.00001628●●●●●●
125. 220290468 c.1371+1G>A essential splice site 0.00007697●●●●●●
126. 220290671 c.1372G>A p.V458I missense 0.00000824●●●●●●
127. 220290684 c.1385C>A p.A462D 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.