DES protein-altering variants in ExAC


The table below lists the DES protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 220283396 c.212C>T p.A71V missense 0.00008285
2. 220285374 c.893C>T p.S298L missense 0.00008270
3. 220288540 c.1286G>A p.R429Q missense 0.00008238
4. 220290468 c.1371+1G>A essential splice site 0.00007697
5. 220285042 c.709G>A p.A237T missense 0.00007429
6. 220283704 c.520G>C p.A174P missense 0.00007133
7. 220283553 c.369delC p.Ile123MetfsTer18 frameshift 0.00007007
8. 220283575 c.391C>A p.Q131K missense 0.00006976
9. 220290430 c.1334C>T p.T445M missense 0.00006244
10. 220285596 c.944G>A p.R315H missense 0.00005799
11. 220284976 c.643G>A p.V215M missense 0.00005767
12. 220283377 c.193G>A p.G65S missense 0.00005656
13. 220283645 c.461T>A p.L154H missense 0.00005157
14. 220285596 c.944G>T p.R315L missense 0.00004971
15. 220286102 c.1064G>A p.R355Q missense 0.00004949
16. 220283383 c.199G>A p.G67R missense 0.00004615
17. 220283443 c.259G>T p.E87X nonsense 0.00004147
18. 220285016 c.683G>T p.R228I missense 0.00004121
19. 220284995 c.662C>T p.A221V missense 0.00004120
20. 220283350 c.166G>C p.V56L missense 0.00004042
21. 220283249 c.65C>G p.P22R missense 0.00003920
22. 220283594 c.410C>T p.A137V missense 0.00003709
23. 220283537 c.353G>A p.R118H missense 0.00003703
24. 220283547 c.363C>G p.N121K missense 0.00003547
25. 220283551 c.367A>G p.I123V missense 0.00003502
26. 220283555 c.371A>G p.E124G missense 0.00003466
27. 220283411 c.227C>T p.T76I missense 0.00003383
28. 220286087 c.1049G>A p.R350Q missense 0.00003301
29. 220286161 c.1123C>T p.R375W missense 0.00003297
30. 220284822 c.584A>C p.Q195P missense 0.00003295
31. 220283408 c.224G>A p.G75E missense 0.00003264
32. 220290397 c.1301A>G p.E434G missense 0.00003188
33. 220283402 c.218G>A p.R73Q missense 0.00003030
34. 220286281 c.1243C>T p.R415W missense 0.00002518
35. 220285298 c.817G>A p.A273T missense 0.00002486
36. 220285589 c.937G>A p.A313T missense 0.00002485
37. 220286065 c.1027G>A p.D343N missense 0.00002484
38. 220286216 c.1178A>G p.N393S missense 0.00002474
39. 220286137 c.1099A>C p.I367L missense 0.00002473
40. 220286185 c.1147C>T p.R383C missense 0.00002473
41. 220284831 c.593T>C p.I198T missense 0.00002471
42. 220288534 c.1280A>G p.N427S missense 0.00002471
43. 220283213 c.29G>A p.R10H missense 0.00002002
44. 220283224 c.40T>C p.Y14H missense 0.00001979
45. 220283369 c.185G>A p.G62E missense 0.00001708
46. 220286086 c.1048C>T p.R350W missense 0.00001651
47. 220286093 c.1055T>C p.L352S missense 0.00001650
48. 220285027 c.694C>T p.L232F missense 0.00001649
49. 220286194 c.1156C>T p.R386C missense 0.00001649
50. 220288539 c.1285C>T p.R429X nonsense 0.00001648
51. 220285000 c.667A>G p.I223V missense 0.00001648
52. 220288543 c.1288+1G>A essential splice site 0.00001648
53. 220285013 c.680G>A p.R227H missense 0.00001648
54. 220284847 c.609A>C p.E203D missense 0.00001647
55. 220284872 c.634C>T p.R212X nonsense 0.00001647
56. 220284840 c.602A>G p.K201R missense 0.00001647
57. 220290459 c.1363G>A p.D455N missense 0.00001628
58. 220283360 c.176C>T p.T59M missense 0.00001497
59. 220283332 c.148A>T p.T50S missense 0.00001226
60. 220283325 c.141C>A p.S47R missense 0.00001199
61. 220283305 c.121G>A p.G41S missense 0.00001146
62. 220283300 c.116G>A p.G39D missense 0.00001124
63. 220283299 c.115G>A p.G39S missense 0.00001122
64. 220283293 c.109C>T p.R37W missense 0.00001108
65. 220283293 c.109C>G p.R37G missense 0.00001108
66. 220283291 c.107C>G p.P36R missense 0.00001103
67. 220283289 c.105C>A p.F35L missense 0.00001095
68. 220283206 c.22A>G p.S8G missense 0.00001014
69. 220283218 c.34T>C p.S12P missense 0.00000995
70. 220283246 c.62C>T p.A21V missense 0.00000982
71. 220283227 c.43C>G p.R15G missense 0.00000982
72. 220283227 c.43C>T p.R15C missense 0.00000982
73. 220283252 c.68G>A p.G23D missense 0.00000979
74. 220283277 c.93T>G p.S31R missense 0.00000952
75. 220285647 c.995C>T p.T332I missense 0.00000835
76. 220285647 c.995C>A p.T332N missense 0.00000835
77. 220285637 c.985C>T p.Q329X nonsense 0.00000833
78. 220285217 c.736G>A p.E246K missense 0.00000831
79. 220285626 c.974G>A p.R325Q missense 0.00000831
80. 220285223 c.742C>T p.R248C missense 0.00000831
81. 220285224 c.743G>A p.R248H missense 0.00000830
82. 220285293 c.812C>T p.T271I missense 0.00000829
83. 220285614 c.962T>A p.M321K missense 0.00000829
84. 220285595 c.943C>T p.R315C missense 0.00000828
85. 220285575 c.923A>G p.N308S missense 0.00000828
86. 220285576 c.924C>A p.N308K missense 0.00000828
87. 220285060 c.727C>T p.H243Y missense 0.00000828
88. 220285568 c.916G>A p.A306T missense 0.00000827
89. 220285356 c.875C>G p.A292G missense 0.00000827
90. 220285556 c.904G>A p.D302N missense 0.00000827
91. 220285344 c.863A>G p.N288S missense 0.00000826
92. 220286076 c.1038G>A p.M346I missense 0.00000826
93. 220285314 c.833G>A p.R278Q missense 0.00000826
94. 220285043 c.710C>T p.A237V missense 0.00000826
95. 220285320 c.839A>G p.Q280R missense 0.00000826
96. 220286227 c.1189G>A p.A397T missense 0.00000825
97. 220286117 c.1079C>T p.A360V missense 0.00000825
98. 220286101 c.1063C>T p.R355X nonsense 0.00000825
99. 220286235 c.1197T>G p.D399E missense 0.00000825
100. 220285030 c.697A>G p.N233D missense 0.00000825
101. 220286104 c.1066T>C p.F356L missense 0.00000825
102. 220286085 c.1047G>A p.M349I missense 0.00000825
103. 220284982 c.649G>A p.A217T missense 0.00000824
104. 220288540 c.1286G>C p.R429P missense 0.00000824
105. 220286155 c.1117G>A p.E373K missense 0.00000824
106. 220286132 c.1094A>T p.D365V missense 0.00000824
107. 220290684 c.1385C>A p.A462D missense 0.00000824
108. 220286141 c.1103C>T p.A368V missense 0.00000824
109. 220288527 c.1273G>C p.A425P missense 0.00000824
110. 220284983 c.650C>A p.A217E missense 0.00000824
111. 220285009 c.676G>A p.E226K missense 0.00000824
112. 220286157 c.1119A>T p.E373D missense 0.00000824
113. 220284997 c.664C>T p.R222C missense 0.00000824
114. 220288530 c.1276C>T p.L426F missense 0.00000824
115. 220284976 c.643G>T p.V215L missense 0.00000824
116. 220285012 c.679C>A p.R227S missense 0.00000824
117. 220284822 c.584A>G p.Q195R missense 0.00000824
118. 220286180 c.1142T>C p.M381T missense 0.00000824
119. 220284841 c.603G>C p.K201N missense 0.00000824
120. 220288536 c.1282T>G p.F428V missense 0.00000824
121. 220288516 c.1262A>G p.Q421R missense 0.00000824
122. 220284980 c.647A>G p.D216G missense 0.00000824
123. 220288504 c.1250A>G p.N417S missense 0.00000824
124. 220286137 c.1099A>G p.I367V missense 0.00000824
125. 220290671 c.1372G>A p.V458I missense 0.00000824
126. 220285012 c.679C>T p.R227C missense 0.00000824
127. 220284861 c.623T>G p.L208W 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.