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

* 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.