DES variants in ExAC


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

* 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.