DES missense variants in ExAC


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