DES non-truncating variants in ExAC


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