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. 220283773 c.578+11G>A splice site 0.01036132●●●●●●
2. 220284876 c.638C>T p.A213V missense 0.01014777●●●●●●
3. 220286064 c.1026C>T p.N342N splice site 0.00649512●●●●●●
4. 220290674 c.1375G>A p.V459I missense 0.00303255●●●●●●
5. 220285381 c.897+3_897+4delGG splice site 0.00224972●●●●●●
6. 220283588 c.404C>T p.A135V missense 0.00074543●●●●●●
7. 220285587 c.935A>C p.D312A missense 0.00038910●●●●●●
8. 220284998 c.665G>A p.R222H missense 0.00037082●●●●●●
9. 220283354 c.170C>T p.S57L missense 0.00029814●●●●●●
10. 220285266 c.785A>T p.E262V missense 0.00021570●●●●●●
11. 220286218 c.1180G>A p.V394M missense 0.00021444●●●●●●
12. 220284873 c.635G>A p.R212Q missense 0.00020592●●●●●●
13. 220285586 c.934G>A p.D312N missense 0.00018216●●●●●●
14. 220284989 c.656C>T p.T219I missense 0.00017304●●●●●●
15. 220283591 c.407T>A p.L136H missense 0.00014795●●●●●●
16. 220290449 c.1353C>G p.I451M missense 0.00012404●●●●●●
17. 220283400 c.216C>A p.S72R missense 0.00012046●●●●●●
18. 220283434 c.250G>A p.G84S missense 0.00011946●●●●●●
19. 220285661 c.1009G>A p.A337T missense 0.00011817●●●●●●
20. 220286051 c.1024-11C>A splice site 0.00011636●●●●●●
21. 220283413 c.229A>G p.T77A missense 0.00010343●●●●●●
22. 220290673 c.1374C>T splice site 0.00009064●●●●●●
23. 220284975 c.642C>T p.D214D splice site 0.00009063●●●●●●
24. 220283396 c.212C>T p.A71V missense 0.00008285●●●●●●
25. 220285374 c.893C>T p.S298L missense 0.00008270●●●●●●
26. 220288540 c.1286G>A p.R429Q missense 0.00008238●●●●●●
27. 220290468 c.1371+1G>A essential splice site 0.00007697●●●●●●
28. 220285042 c.709G>A p.A237T missense 0.00007429●●●●●●
29. 220283704 c.520G>C p.A174P missense 0.00007133●●●●●●
30. 220283553 c.369delC p.Ile123MetfsTer18 frameshift 0.00007007●●●●●●
31. 220283575 c.391C>A p.Q131K missense 0.00006976●●●●●●
32. 220284969 c.640-4C>G splice site 0.00006591●●●●●●
33. 220290430 c.1334C>T p.T445M missense 0.00006244●●●●●●
34. 220285209 c.736-8C>A splice site 0.00005817●●●●●●
35. 220285596 c.944G>A p.R315H missense 0.00005799●●●●●●
36. 220290664 c.1372-7_1372-6insC splice site 0.00005768●●●●●●
37. 220284976 c.643G>A p.V215M missense 0.00005767●●●●●●
38. 220284877 c.639G>A p.A213A splice site 0.00005766●●●●●●
39. 220283377 c.193G>A p.G65S missense 0.00005656●●●●●●
40. 220283645 c.461T>A p.L154H missense 0.00005157●●●●●●
41. 220285596 c.944G>T p.R315L missense 0.00004971●●●●●●
42. 220286102 c.1064G>A p.R355Q missense 0.00004949●●●●●●
43. 220283383 c.199G>A p.G67R missense 0.00004615●●●●●●
44. 220283443 c.259G>T p.E87X nonsense 0.00004147●●●●●●
45. 220285016 c.683G>T p.R228I missense 0.00004121●●●●●●
46. 220284995 c.662C>T p.A221V missense 0.00004120●●●●●●
47. 220283350 c.166G>C p.V56L missense 0.00004042●●●●●●
48. 220283249 c.65C>G p.P22R missense 0.00003920●●●●●●
49. 220283594 c.410C>T p.A137V missense 0.00003709●●●●●●
50. 220283537 c.353G>A p.R118H missense 0.00003703●●●●●●
51. 220283547 c.363C>G p.N121K missense 0.00003547●●●●●●
52. 220283551 c.367A>G p.I123V missense 0.00003502●●●●●●
53. 220283555 c.371A>G p.E124G missense 0.00003466●●●●●●
54. 220283411 c.227C>T p.T76I missense 0.00003383●●●●●●
55. 220286053 c.1024-9C>T splice site 0.00003323●●●●●●
56. 220286055 c.1024-7C>G splice site 0.00003323●●●●●●
57. 220286087 c.1049G>A p.R350Q missense 0.00003301●●●●●●
58. 220286161 c.1123C>T p.R375W missense 0.00003297●●●●●●
59. 220284822 c.584A>C p.Q195P missense 0.00003295●●●●●●
60. 220283408 c.224G>A p.G75E missense 0.00003264●●●●●●
61. 220290397 c.1301A>G p.E434G missense 0.00003188●●●●●●
62. 220283402 c.218G>A p.R73Q missense 0.00003030●●●●●●
63. 220286281 c.1243C>T p.R415W missense 0.00002518●●●●●●
64. 220285298 c.817G>A p.A273T missense 0.00002486●●●●●●
65. 220285589 c.937G>A p.A313T missense 0.00002485●●●●●●
66. 220286065 c.1027G>A p.D343N missense 0.00002484●●●●●●
67. 220286216 c.1178A>G p.N393S missense 0.00002474●●●●●●
68. 220286137 c.1099A>C p.I367L missense 0.00002473●●●●●●
69. 220286185 c.1147C>T p.R383C missense 0.00002473●●●●●●
70. 220288534 c.1280A>G p.N427S missense 0.00002471●●●●●●
71. 220284831 c.593T>C p.I198T missense 0.00002471●●●●●●
72. 220283213 c.29G>A p.R10H missense 0.00002002●●●●●●
73. 220283224 c.40T>C p.Y14H missense 0.00001979●●●●●●
74. 220283369 c.185G>A p.G62E missense 0.00001708●●●●●●
75. 220286086 c.1048C>T p.R350W missense 0.00001651●●●●●●
76. 220286093 c.1055T>C p.L352S missense 0.00001650●●●●●●
77. 220286194 c.1156C>T p.R386C missense 0.00001649●●●●●●
78. 220285027 c.694C>T p.L232F missense 0.00001649●●●●●●
79. 220288543 c.1288+1G>A essential splice site 0.00001648●●●●●●
80. 220285013 c.680G>A p.R227H missense 0.00001648●●●●●●
81. 220288539 c.1285C>T p.R429X nonsense 0.00001648●●●●●●
82. 220285000 c.667A>G p.I223V missense 0.00001648●●●●●●
83. 220284847 c.609A>C p.E203D missense 0.00001647●●●●●●
84. 220284840 c.602A>G p.K201R missense 0.00001647●●●●●●
85. 220284872 c.634C>T p.R212X nonsense 0.00001647●●●●●●
86. 220290459 c.1363G>A p.D455N missense 0.00001628●●●●●●
87. 220283360 c.176C>T p.T59M missense 0.00001497●●●●●●
88. 220283332 c.148A>T p.T50S missense 0.00001226●●●●●●
89. 220283325 c.141C>A p.S47R missense 0.00001199●●●●●●
90. 220283305 c.121G>A p.G41S missense 0.00001146●●●●●●
91. 220283300 c.116G>A p.G39D missense 0.00001124●●●●●●
92. 220283299 c.115G>A p.G39S missense 0.00001122●●●●●●
93. 220283293 c.109C>T p.R37W missense 0.00001108●●●●●●
94. 220283293 c.109C>G p.R37G missense 0.00001108●●●●●●
95. 220283291 c.107C>G p.P36R missense 0.00001103●●●●●●
96. 220283289 c.105C>A p.F35L missense 0.00001095●●●●●●
97. 220283206 c.22A>G p.S8G missense 0.00001014●●●●●●
98. 220283218 c.34T>C p.S12P missense 0.00000995●●●●●●
99. 220283227 c.43C>G p.R15G missense 0.00000982●●●●●●
100. 220283227 c.43C>T p.R15C missense 0.00000982●●●●●●
101. 220283246 c.62C>T p.A21V missense 0.00000982●●●●●●
102. 220283252 c.68G>A p.G23D missense 0.00000979●●●●●●
103. 220283277 c.93T>G p.S31R missense 0.00000952●●●●●●
104. 220285678 c.1023+3_1023+4insAGTCCCTGCCCACCTGGCC splice site 0.00000898●●●●●●
105. 220286280 c.1242C>T splice site 0.00000838●●●●●●
106. 220285647 c.995C>T p.T332I missense 0.00000835●●●●●●
107. 220285647 c.995C>A p.T332N missense 0.00000835●●●●●●
108. 220285637 c.985C>T p.Q329X nonsense 0.00000833●●●●●●
109. 220285217 c.736G>A p.E246K missense 0.00000831●●●●●●
110. 220285223 c.742C>T p.R248C missense 0.00000831●●●●●●
111. 220285626 c.974G>A p.R325Q missense 0.00000831●●●●●●
112. 220285224 c.743G>A p.R248H missense 0.00000830●●●●●●
113. 220285293 c.812C>T p.T271I missense 0.00000829●●●●●●
114. 220285614 c.962T>A p.M321K missense 0.00000829●●●●●●
115. 220285575 c.923A>G p.N308S missense 0.00000828●●●●●●
116. 220285060 c.727C>T p.H243Y missense 0.00000828●●●●●●
117. 220285576 c.924C>A p.N308K missense 0.00000828●●●●●●
118. 220285595 c.943C>T p.R315C missense 0.00000828●●●●●●
119. 220285356 c.875C>G p.A292G missense 0.00000827●●●●●●
120. 220285556 c.904G>A p.D302N missense 0.00000827●●●●●●
121. 220285568 c.916G>A p.A306T missense 0.00000827●●●●●●
122. 220285043 c.710C>T p.A237V missense 0.00000826●●●●●●
123. 220285314 c.833G>A p.R278Q missense 0.00000826●●●●●●
124. 220285320 c.839A>G p.Q280R missense 0.00000826●●●●●●
125. 220285344 c.863A>G p.N288S missense 0.00000826●●●●●●
126. 220286076 c.1038G>A p.M346I missense 0.00000826●●●●●●
127. 220286117 c.1079C>T p.A360V missense 0.00000825●●●●●●
128. 220286085 c.1047G>A p.M349I missense 0.00000825●●●●●●
129. 220285030 c.697A>G p.N233D missense 0.00000825●●●●●●
130. 220286101 c.1063C>T p.R355X nonsense 0.00000825●●●●●●
131. 220286104 c.1066T>C p.F356L missense 0.00000825●●●●●●
132. 220286227 c.1189G>A p.A397T missense 0.00000825●●●●●●
133. 220286235 c.1197T>G p.D399E missense 0.00000825●●●●●●
134. 220284997 c.664C>T p.R222C missense 0.00000824●●●●●●
135. 220286141 c.1103C>T p.A368V missense 0.00000824●●●●●●
136. 220288504 c.1250A>G p.N417S missense 0.00000824●●●●●●
137. 220288548 c.1288+6T>C splice site 0.00000824●●●●●●
138. 220284822 c.584A>G p.Q195R missense 0.00000824●●●●●●
139. 220284841 c.603G>C p.K201N missense 0.00000824●●●●●●
140. 220284861 c.623T>G p.L208W missense 0.00000824●●●●●●
141. 220284976 c.643G>T p.V215L missense 0.00000824●●●●●●
142. 220284980 c.647A>G p.D216G missense 0.00000824●●●●●●
143. 220284982 c.649G>A p.A217T missense 0.00000824●●●●●●
144. 220284983 c.650C>A p.A217E missense 0.00000824●●●●●●
145. 220285009 c.676G>A p.E226K missense 0.00000824●●●●●●
146. 220285012 c.679C>A p.R227S missense 0.00000824●●●●●●
147. 220285012 c.679C>T p.R227C missense 0.00000824●●●●●●
148. 220286132 c.1094A>T p.D365V missense 0.00000824●●●●●●
149. 220286137 c.1099A>G p.I367V missense 0.00000824●●●●●●
150. 220286155 c.1117G>A p.E373K missense 0.00000824●●●●●●
151. 220286157 c.1119A>T p.E373D missense 0.00000824●●●●●●
152. 220286180 c.1142T>C p.M381T missense 0.00000824●●●●●●
153. 220288516 c.1262A>G p.Q421R missense 0.00000824●●●●●●
154. 220288527 c.1273G>C p.A425P missense 0.00000824●●●●●●
155. 220288530 c.1276C>T p.L426F missense 0.00000824●●●●●●
156. 220288536 c.1282T>G p.F428V missense 0.00000824●●●●●●
157. 220288540 c.1286G>C p.R429P missense 0.00000824●●●●●●
158. 220290671 c.1372G>A p.V458I missense 0.00000824●●●●●●
159. 220290684 c.1385C>A p.A462D missense 0.00000824●●●●●●
160. 220288499 c.1245G>A splice site 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.