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. 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. 220284831 c.593T>C p.I198T missense 0.00002471
71. 220288534 c.1280A>G p.N427S 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. 220285027 c.694C>T p.L232F missense 0.00001649
78. 220286194 c.1156C>T p.R386C missense 0.00001649
79. 220285013 c.680G>A p.R227H missense 0.00001648
80. 220288539 c.1285C>T p.R429X nonsense 0.00001648
81. 220285000 c.667A>G p.I223V missense 0.00001648
82. 220288543 c.1288+1G>A essential splice site 0.00001648
83. 220284840 c.602A>G p.K201R missense 0.00001647
84. 220284847 c.609A>C p.E203D 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>G p.R37G missense 0.00001108
94. 220283293 c.109C>T p.R37W 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>T p.R15C missense 0.00000982
100. 220283246 c.62C>T p.A21V missense 0.00000982
101. 220283227 c.43C>G p.R15G 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>A p.T332N missense 0.00000835
107. 220285647 c.995C>T p.T332I missense 0.00000835
108. 220285637 c.985C>T p.Q329X nonsense 0.00000833
109. 220285223 c.742C>T p.R248C missense 0.00000831
110. 220285217 c.736G>A p.E246K missense 0.00000831
111. 220285626 c.974G>A p.R325Q missense 0.00000831
112. 220285224 c.743G>A p.R248H missense 0.00000830
113. 220285614 c.962T>A p.M321K missense 0.00000829
114. 220285293 c.812C>T p.T271I missense 0.00000829
115. 220285060 c.727C>T p.H243Y missense 0.00000828
116. 220285576 c.924C>A p.N308K missense 0.00000828
117. 220285575 c.923A>G p.N308S 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. 220286076 c.1038G>A p.M346I 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. 220285043 c.710C>T p.A237V missense 0.00000826
127. 220286227 c.1189G>A p.A397T missense 0.00000825
128. 220286085 c.1047G>A p.M349I missense 0.00000825
129. 220285030 c.697A>G p.N233D missense 0.00000825
130. 220286235 c.1197T>G p.D399E missense 0.00000825
131. 220286104 c.1066T>C p.F356L missense 0.00000825
132. 220286117 c.1079C>T p.A360V missense 0.00000825
133. 220286101 c.1063C>T p.R355X nonsense 0.00000825
134. 220288499 c.1245G>A splice site 0.00000824
135. 220288540 c.1286G>C p.R429P missense 0.00000824
136. 220285009 c.676G>A p.E226K missense 0.00000824
137. 220284983 c.650C>A p.A217E missense 0.00000824
138. 220286157 c.1119A>T p.E373D missense 0.00000824
139. 220288504 c.1250A>G p.N417S missense 0.00000824
140. 220290684 c.1385C>A p.A462D missense 0.00000824
141. 220288527 c.1273G>C p.A425P missense 0.00000824
142. 220284976 c.643G>T p.V215L missense 0.00000824
143. 220285012 c.679C>A p.R227S missense 0.00000824
144. 220286180 c.1142T>C p.M381T missense 0.00000824
145. 220284841 c.603G>C p.K201N missense 0.00000824
146. 220284822 c.584A>G p.Q195R missense 0.00000824
147. 220288548 c.1288+6T>C splice site 0.00000824
148. 220284980 c.647A>G p.D216G missense 0.00000824
149. 220288530 c.1276C>T p.L426F missense 0.00000824
150. 220286137 c.1099A>G p.I367V missense 0.00000824
151. 220286141 c.1103C>T p.A368V missense 0.00000824
152. 220285012 c.679C>T p.R227C missense 0.00000824
153. 220284861 c.623T>G p.L208W missense 0.00000824
154. 220284997 c.664C>T p.R222C missense 0.00000824
155. 220288536 c.1282T>G p.F428V missense 0.00000824
156. 220288516 c.1262A>G p.Q421R missense 0.00000824
157. 220284982 c.649G>A p.A217T missense 0.00000824
158. 220286132 c.1094A>T p.D365V missense 0.00000824
159. 220286155 c.1117G>A p.E373K missense 0.00000824
160. 220290671 c.1372G>A p.V458I 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.