DES variants in ExAC

DES gene summary
DES variants in DCM

The table below lists the DES 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. 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. 220283354 c.170C>T p.S57L missense 0.00029814●●●●●●
22. 220283360 c.176C>T p.T59M missense 0.00001497●●●●●●
23. 220283369 c.185G>A p.G62E missense 0.00001708●●●●●●
24. 220283377 c.193G>A p.G65S missense 0.00005656●●●●●●
25. 220283383 c.199G>A p.G67R missense 0.00004615●●●●●●
26. 220283396 c.212C>T p.A71V missense 0.00008285●●●●●●
27. 220283400 c.216C>A p.S72R missense 0.00012046●●●●●●
28. 220283402 c.218G>A p.R73Q missense 0.00003030●●●●●●
29. 220283408 c.224G>A p.G75E missense 0.00003264●●●●●●
30. 220283411 c.227C>T p.T76I missense 0.00003383●●●●●●
31. 220283413 c.229A>G p.T77A missense 0.00010343●●●●●●
32. 220283434 c.250G>A p.G84S missense 0.00011946●●●●●●
33. 220283443 c.259G>T p.E87X nonsense 0.00004147●●●●●●
34. 220283537 c.353G>A p.R118H missense 0.00003703●●●●●●
35. 220283547 c.363C>G p.N121K missense 0.00003547●●●●●●
36. 220283551 c.367A>G p.I123V missense 0.00003502●●●●●●
37. 220283553 c.369delC p.Ile123MetfsTer18 frameshift 0.00007007●●●●●●
38. 220283555 c.371A>G p.E124G missense 0.00003466●●●●●●
39. 220283575 c.391C>A p.Q131K missense 0.00006976●●●●●●
40. 220283588 c.404C>T p.A135V missense 0.00074543●●●●●●
41. 220283591 c.407T>A p.L136H missense 0.00014795●●●●●●
42. 220283594 c.410C>T p.A137V missense 0.00003709●●●●●●
43. 220283645 c.461T>A p.L154H missense 0.00005157●●●●●●
44. 220283704 c.520G>C p.A174P missense 0.00007133●●●●●●
45. 220283773 c.578+11G>A splice site 0.01036132●●●●●●
46. 220284822 c.584A>C p.Q195P missense 0.00003295●●●●●●
47. 220284822 c.584A>G p.Q195R missense 0.00000824●●●●●●
48. 220284831 c.593T>C p.I198T missense 0.00002471●●●●●●
49. 220284840 c.602A>G p.K201R missense 0.00001647●●●●●●
50. 220284841 c.603G>C p.K201N missense 0.00000824●●●●●●
51. 220284847 c.609A>C p.E203D missense 0.00001647●●●●●●
52. 220284861 c.623T>G p.L208W missense 0.00000824●●●●●●
53. 220284872 c.634C>T p.R212X nonsense 0.00001647●●●●●●
54. 220284873 c.635G>A p.R212Q missense 0.00020592●●●●●●
55. 220284876 c.638C>T p.A213V missense 0.01014777●●●●●●
56. 220284877 c.639G>A p.A213A splice site 0.00005766●●●●●●
57. 220284969 c.640-4C>G splice site 0.00006591●●●●●●
58. 220284975 c.642C>T p.D214D splice site 0.00009063●●●●●●
59. 220284976 c.643G>A p.V215M missense 0.00005767●●●●●●
60. 220284976 c.643G>T p.V215L missense 0.00000824●●●●●●
61. 220284980 c.647A>G p.D216G missense 0.00000824●●●●●●
62. 220284982 c.649G>A p.A217T missense 0.00000824●●●●●●
63. 220284983 c.650C>A p.A217E missense 0.00000824●●●●●●
64. 220284989 c.656C>T p.T219I missense 0.00017304●●●●●●
65. 220284995 c.662C>T p.A221V missense 0.00004120●●●●●●
66. 220284997 c.664C>T p.R222C missense 0.00000824●●●●●●
67. 220284998 c.665G>A p.R222H missense 0.00037082●●●●●●
68. 220285000 c.667A>G p.I223V missense 0.00001648●●●●●●
69. 220285009 c.676G>A p.E226K missense 0.00000824●●●●●●
70. 220285012 c.679C>A p.R227S missense 0.00000824●●●●●●
71. 220285012 c.679C>T p.R227C missense 0.00000824●●●●●●
72. 220285013 c.680G>A p.R227H missense 0.00001648●●●●●●
73. 220285016 c.683G>T p.R228I missense 0.00004121●●●●●●
74. 220285027 c.694C>T p.L232F missense 0.00001649●●●●●●
75. 220285030 c.697A>G p.N233D missense 0.00000825●●●●●●
76. 220285042 c.709G>A p.A237T missense 0.00007429●●●●●●
77. 220285043 c.710C>T p.A237V missense 0.00000826●●●●●●
78. 220285060 c.727C>T p.H243Y missense 0.00000828●●●●●●
79. 220285209 c.736-8C>A splice site 0.00005817●●●●●●
80. 220285217 c.736G>A p.E246K missense 0.00000831●●●●●●
81. 220285223 c.742C>T p.R248C missense 0.00000831●●●●●●
82. 220285224 c.743G>A p.R248H missense 0.00000830●●●●●●
83. 220285266 c.785A>T p.E262V missense 0.00021570●●●●●●
84. 220285293 c.812C>T p.T271I missense 0.00000829●●●●●●
85. 220285298 c.817G>A p.A273T missense 0.00002486●●●●●●
86. 220285314 c.833G>A p.R278Q missense 0.00000826●●●●●●
87. 220285320 c.839A>G p.Q280R missense 0.00000826●●●●●●
88. 220285344 c.863A>G p.N288S missense 0.00000826●●●●●●
89. 220285356 c.875C>G p.A292G missense 0.00000827●●●●●●
90. 220285374 c.893C>T p.S298L missense 0.00008270●●●●●●
91. 220285381 c.897+3_897+4delGG splice site 0.00224972●●●●●●
92. 220285556 c.904G>A p.D302N missense 0.00000827●●●●●●
93. 220285568 c.916G>A p.A306T missense 0.00000827●●●●●●
94. 220285575 c.923A>G p.N308S missense 0.00000828●●●●●●
95. 220285576 c.924C>A p.N308K missense 0.00000828●●●●●●
96. 220285586 c.934G>A p.D312N missense 0.00018216●●●●●●
97. 220285587 c.935A>C p.D312A missense 0.00038910●●●●●●
98. 220285589 c.937G>A p.A313T missense 0.00002485●●●●●●
99. 220285595 c.943C>T p.R315C missense 0.00000828●●●●●●
100. 220285596 c.944G>A p.R315H missense 0.00005799●●●●●●
101. 220285596 c.944G>T p.R315L missense 0.00004971●●●●●●
102. 220285614 c.962T>A p.M321K missense 0.00000829●●●●●●
103. 220285626 c.974G>A p.R325Q missense 0.00000831●●●●●●
104. 220285637 c.985C>T p.Q329X nonsense 0.00000833●●●●●●
105. 220285647 c.995C>T p.T332I missense 0.00000835●●●●●●
106. 220285647 c.995C>A p.T332N missense 0.00000835●●●●●●
107. 220285661 c.1009G>A p.A337T missense 0.00011817●●●●●●
108. 220285678 c.1023+3_1023+4insAGTCCCTGCCCACCTGGCC splice site 0.00000898●●●●●●
109. 220286051 c.1024-11C>A splice site 0.00011636●●●●●●
110. 220286053 c.1024-9C>T splice site 0.00003323●●●●●●
111. 220286055 c.1024-7C>G splice site 0.00003323●●●●●●
112. 220286064 c.1026C>T p.N342N splice site 0.00649512●●●●●●
113. 220286065 c.1027G>A p.D343N missense 0.00002484●●●●●●
114. 220286076 c.1038G>A p.M346I missense 0.00000826●●●●●●
115. 220286085 c.1047G>A p.M349I missense 0.00000825●●●●●●
116. 220286086 c.1048C>T p.R350W missense 0.00001651●●●●●●
117. 220286087 c.1049G>A p.R350Q missense 0.00003301●●●●●●
118. 220286093 c.1055T>C p.L352S missense 0.00001650●●●●●●
119. 220286101 c.1063C>T p.R355X nonsense 0.00000825●●●●●●
120. 220286102 c.1064G>A p.R355Q missense 0.00004949●●●●●●
121. 220286104 c.1066T>C p.F356L missense 0.00000825●●●●●●
122. 220286117 c.1079C>T p.A360V missense 0.00000825●●●●●●
123. 220286132 c.1094A>T p.D365V missense 0.00000824●●●●●●
124. 220286137 c.1099A>C p.I367L missense 0.00002473●●●●●●
125. 220286137 c.1099A>G p.I367V missense 0.00000824●●●●●●
126. 220286141 c.1103C>T p.A368V missense 0.00000824●●●●●●
127. 220286155 c.1117G>A p.E373K missense 0.00000824●●●●●●
128. 220286157 c.1119A>T p.E373D missense 0.00000824●●●●●●
129. 220286161 c.1123C>T p.R375W missense 0.00003297●●●●●●
130. 220286180 c.1142T>C p.M381T missense 0.00000824●●●●●●
131. 220286185 c.1147C>T p.R383C missense 0.00002473●●●●●●
132. 220286194 c.1156C>T p.R386C missense 0.00001649●●●●●●
133. 220286216 c.1178A>G p.N393S missense 0.00002474●●●●●●
134. 220286218 c.1180G>A p.V394M missense 0.00021444●●●●●●
135. 220286227 c.1189G>A p.A397T missense 0.00000825●●●●●●
136. 220286235 c.1197T>G p.D399E missense 0.00000825●●●●●●
137. 220286280 c.1242C>T splice site 0.00000838●●●●●●
138. 220286281 c.1243C>T p.R415W missense 0.00002518●●●●●●
139. 220288499 c.1245G>A splice site 0.00000824●●●●●●
140. 220288504 c.1250A>G p.N417S missense 0.00000824●●●●●●
141. 220288516 c.1262A>G p.Q421R missense 0.00000824●●●●●●
142. 220288527 c.1273G>C p.A425P missense 0.00000824●●●●●●
143. 220288530 c.1276C>T p.L426F missense 0.00000824●●●●●●
144. 220288534 c.1280A>G p.N427S missense 0.00002471●●●●●●
145. 220288536 c.1282T>G p.F428V missense 0.00000824●●●●●●
146. 220288539 c.1285C>T p.R429X nonsense 0.00001648●●●●●●
147. 220288540 c.1286G>A p.R429Q missense 0.00008238●●●●●●
148. 220288540 c.1286G>C p.R429P missense 0.00000824●●●●●●
149. 220288543 c.1288+1G>A essential splice site 0.00001648●●●●●●
150. 220288548 c.1288+6T>C splice site 0.00000824●●●●●●
151. 220290397 c.1301A>G p.E434G missense 0.00003188●●●●●●
152. 220290430 c.1334C>T p.T445M missense 0.00006244●●●●●●
153. 220290449 c.1353C>G p.I451M missense 0.00012404●●●●●●
154. 220290459 c.1363G>A p.D455N missense 0.00001628●●●●●●
155. 220290468 c.1371+1G>A essential splice site 0.00007697●●●●●●
156. 220290664 c.1372-7_1372-6insC splice site 0.00005768●●●●●●
157. 220290671 c.1372G>A p.V458I missense 0.00000824●●●●●●
158. 220290673 c.1374C>T splice site 0.00009064●●●●●●
159. 220290674 c.1375G>A p.V459I missense 0.00303255●●●●●●
160. 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.