DTNA protein-altering variants in ExAC


The table below lists the DTNA 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. 32395883 c.614C>T p.T205M missense 0.00009066
2. 32391950 c.476G>A p.S159N missense 0.00007428
3. 32374091 c.239G>A p.R80H missense 0.00007419
4. 32431840 c.1390G>A p.D464N missense 0.00006601
5. 32418065 c.1093C>T p.P365S missense 0.00005815
6. 32398287 c.869C>T p.T290M missense 0.00005166
7. 32418785 c.1240C>T p.R414W missense 0.00004950
8. 32418725 c.1180A>G p.N394D missense 0.00004945
9. 32418800 c.1255T>C p.C419R missense 0.00004131
10. 32400847 c.969G>C p.Q323H missense 0.00004119
11. 32374040 c.188G>A p.R63Q missense 0.00003317
12. 32418101 c.1129G>T p.A377S missense 0.00003313
13. 32386232 c.412A>G p.T138A missense 0.00003312
14. 32345942 c.85C>T p.R29C missense 0.00003311
15. 32428313 c.1310A>G p.Y437C missense 0.00003304
16. 32391956 c.482T>C p.V161A missense 0.00003300
17. 32391989 c.515G>A p.R172Q missense 0.00003299
18. 32391971 c.497G>A p.R166Q missense 0.00003299
19. 32398202 c.784C>T p.H262Y missense 0.00003296
20. 32400782 c.904G>A p.A302T missense 0.00003295
21. 32374034 c.182C>G p.A61G missense 0.00002496
22. 32374024 c.172G>T p.V58F missense 0.00001681
23. 32345927 c.70G>T p.A24S missense 0.00001659
24. 32386210 c.390T>G p.F130L missense 0.00001656
25. 32431858 c.1408A>T p.R470W missense 0.00001652
26. 32428310 c.1307G>C p.R436T missense 0.00001652
27. 32431837 c.1387A>G p.I463V missense 0.00001650
28. 32418764 c.1219G>A p.G407R missense 0.00001649
29. 32374088 c.236C>G p.S79C missense 0.00001649
30. 32374090 c.238C>T p.R80C missense 0.00001649
31. 32418777 c.1232A>G p.N411S missense 0.00001649
32. 32398172 c.754A>G p.M252V missense 0.00001648
33. 32395911 c.642G>A p.M214I missense 0.00001648
34. 32400815 c.937C>T p.R313C missense 0.00001648
35. 32446093 c.1672G>A p.G558R missense 0.00001648
36. 32398188 c.770G>A p.R257Q missense 0.00001648
37. 32374204 c.352G>A p.A118T missense 0.00001648
38. 32374147 c.295A>G p.T99A missense 0.00001648
39. 32400875 c.997A>G p.I333V missense 0.00001648
40. 32407585 c.1030G>A p.D344N missense 0.00001647
41. 32443954 c.1581G>C p.Q527H missense 0.00001056
42. 32374003 c.151C>T p.H51Y missense 0.00000906
43. 32374005 c.153C>G p.H51Q missense 0.00000893
44. 32374006 c.154C>G p.L52V missense 0.00000888
45. 32374009 c.157G>A p.V53M missense 0.00000874
46. 32374014 c.162C>A p.D54E missense 0.00000859
47. 32335947 c.7G>A p.E3K missense 0.00000854
48. 32335951 c.11A>G p.D4G missense 0.00000850
49. 32374018 c.166T>A p.W56R missense 0.00000849
50. 32335956 c.16delG p.Arg8GlufsTer15 frameshift 0.00000848
51. 32438251 c.1445A>G p.E482G missense 0.00000847
52. 32335977 c.37G>A p.A13T missense 0.00000844
53. 32398278 c.860A>G p.K287R missense 0.00000844
54. 32335982 c.42A>C p.E14D missense 0.00000844
55. 32374028 c.176T>C p.I59T missense 0.00000836
56. 32438355 c.1549C>T p.L517F missense 0.00000835
57. 32438352 c.1546C>T p.R516W missense 0.00000834
58. 32431891 c.1441A>G p.R481G missense 0.00000833
59. 32386255 c.435G>A p.M145I missense 0.00000833
60. 32438277 c.1471C>T p.R491W missense 0.00000832
61. 32386249 c.429G>T p.K143N missense 0.00000831
62. 32438281 c.1475T>G p.L492R missense 0.00000830
63. 32438285 c.1479G>C p.E493D missense 0.00000830
64. 32438335 c.1529C>T p.T510I missense 0.00000830
65. 32374039 c.187C>T p.R63W missense 0.00000830
66. 32418110 c.1138G>A p.A380T missense 0.00000829
67. 32438329 c.1523A>G p.N508S missense 0.00000829
68. 32418075 c.1103G>A p.S368N missense 0.00000829
69. 32418110 c.1138G>T p.A380S missense 0.00000829
70. 32428343 c.1340C>T p.S447L missense 0.00000829
71. 32418119 c.1147T>G p.F383V missense 0.00000829
72. 32345990 c.133C>T p.Q45X nonsense 0.00000829
73. 32418092 c.1120A>G p.K374E missense 0.00000828
74. 32438313 c.1507G>C p.E503Q missense 0.00000828
75. 32428259 c.1257-1G>A essential splice site 0.00000828
76. 32428337 c.1334C>T p.S445F missense 0.00000828
77. 32438319 c.1513G>A p.A505T missense 0.00000828
78. 32438314 c.1508A>T p.E503V missense 0.00000828
79. 32431793 c.1345-2A>G essential splice site 0.00000828
80. 32374049 c.197C>T p.A66V missense 0.00000827
81. 32345969 c.112G>A p.A38T missense 0.00000827
82. 32345949 c.92G>C p.R31P missense 0.00000827
83. 32428268 c.1265A>G p.E422G missense 0.00000827
84. 32431805 c.1355A>G p.Q452R missense 0.00000826
85. 32391931 c.457T>C p.S153P missense 0.00000826
86. 32428279 c.1276C>T p.R426W missense 0.00000826
87. 32428316 c.1313C>T p.A438V missense 0.00000826
88. 32374058 c.206A>C p.N69T missense 0.00000826
89. 32428280 c.1277G>A p.R426Q missense 0.00000826
90. 32398242 c.824A>G p.H275R missense 0.00000826
91. 32431804 c.1354C>G p.Q452E missense 0.00000826
92. 32418800 c.1255T>A p.C419S missense 0.00000826
93. 32418779 c.1234A>G p.M412V missense 0.00000825
94. 32391958 c.484A>G p.M162V missense 0.00000825
95. 32431823 c.1373A>G p.D458G missense 0.00000825
96. 32392027 c.553C>T p.P185S missense 0.00000825
97. 32418786 c.1241G>A p.R414Q missense 0.00000825
98. 32374065 c.213C>G p.D71E missense 0.00000825
99. 32418765 c.1220G>C p.G407A missense 0.00000825
100. 32431844 c.1394C>T p.A465V missense 0.00000825
101. 32391994 c.520G>A p.V174I missense 0.00000825
102. 32398137 c.719C>T p.P240L missense 0.00000824
103. 32395903 c.634A>G p.T212A missense 0.00000824
104. 32407621 c.1066A>G p.S356G missense 0.00000824
105. 32374214 c.362C>T p.P121L missense 0.00000824
106. 32400867 c.989T>G p.L330W missense 0.00000824
107. 32374111 c.259A>G p.T87A missense 0.00000824
108. 32400810 c.932C>G p.S311C missense 0.00000824
109. 32418746 c.1201G>A p.D401N missense 0.00000824
110. 32374083 c.231C>G p.N77K missense 0.00000824
111. 32395979 c.709+1G>A essential splice site 0.00000824
112. 32398205 c.787A>T p.N263Y missense 0.00000824
113. 32395925 c.656C>T p.P219L missense 0.00000824
114. 32407583 c.1028A>T p.N343I missense 0.00000824
115. 32392009 c.535A>G p.T179A missense 0.00000824
116. 32400822 c.944C>G p.P315R missense 0.00000824
117. 32400840 c.962C>T p.P321L missense 0.00000824
118. 32374099 c.247G>T p.A83S missense 0.00000824
119. 32400761 c.883C>T p.P295S missense 0.00000824
120. 32446088 c.1667A>G p.K556R missense 0.00000824
121. 32407630 c.1075A>G p.I359V missense 0.00000824
122. 32400872 c.994C>T p.H332Y missense 0.00000824
123. 32374132 c.280A>G p.K94E missense 0.00000824
124. 32418707 c.1164-2A>G essential splice site 0.00000824
125. 32398220 c.802C>G p.Q268E missense 0.00000824
126. 32418758 c.1213C>A p.L405I missense 0.00000824
127. 32395936 c.667G>A p.V223I missense 0.00000824
128. 32407604 c.1049C>T p.S350F missense 0.00000824
129. 32392010 c.536C>T p.T179M missense 0.00000824
130. 32400860 c.982C>T p.L328F missense 0.00000824
131. 32400768 c.890A>G p.K297R missense 0.00000824
132. 32374100 c.248C>T p.A83V missense 0.00000824
133. 32407637 c.1082G>A p.R361K missense 0.00000824
134. 32395915 c.646G>T p.D216Y missense 0.00000824
135. 32374144 c.292A>G p.T98A missense 0.00000824
136. 32400873 c.995A>G p.H332R missense 0.00000824
137. 32400815 c.937C>A p.R313S missense 0.00000824
138. 32374169 c.317A>T p.Q106L missense 0.00000824
139. 32395964 c.695C>T p.A232V missense 0.00000824
140. 32392012 c.538G>A p.A180T missense 0.00000824
141. 32407607 c.1052T>A p.V351D missense 0.00000824
142. 32400861 c.983T>A p.L328H missense 0.00000824
143. 32400782 c.904G>T p.A302S missense 0.00000824
144. 32374102 c.250G>A p.V84M missense 0.00000824
145. 32418714 c.1169A>G p.Q390R missense 0.00000824
146. 32374082 c.230A>G p.N77S missense 0.00000824
147. 32398204 c.786C>A p.H262Q missense 0.00000824
148. 32395919 c.650C>T p.P217L missense 0.00000824
149. 32400816 c.938G>A p.R313H missense 0.00000824
150. 32418744 c.1199C>T p.A400V 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.