DTNA variants in ExAC

DTNA gene summary
DTNA variants in DCM

The table below lists the DTNA 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 frequency▼Populations*
1. 0 c.-1-4A>G splice site 0.00000863●●●●●●
2. 32335947 c.7G>A p.E3K missense 0.00000854●●●●●●
3. 32335951 c.11A>G p.D4G missense 0.00000850●●●●●●
4. 32335956 c.16delG p.Arg8GlufsTer15 frameshift 0.00000848●●●●●●
5. 32335977 c.37G>A p.A13T missense 0.00000844●●●●●●
6. 32335982 c.42A>C p.E14D missense 0.00000844●●●●●●
7. 32345917 c.68-8C>T splice site 0.00002500●●●●●●
8. 32345918 c.68-7G>A splice site 0.00002498●●●●●●
9. 32345926 c.69G>A splice site 0.00000830●●●●●●
10. 32345927 c.70G>T p.A24S missense 0.00001659●●●●●●
11. 32345942 c.85C>T p.R29C missense 0.00003311●●●●●●
12. 32345949 c.92G>A p.R31Q missense 0.00038875●●●●●●
13. 32345949 c.92G>C p.R31P missense 0.00000827●●●●●●
14. 32345969 c.112G>A p.A38T missense 0.00000827●●●●●●
15. 32345990 c.133C>T p.Q45X nonsense 0.00000829●●●●●●
16. 32346013 c.148+8T>C splice site 0.00001676●●●●●●
17. 32373997 c.149-4G>A splice site 0.00000940●●●●●●
18. 32374002 c.150G>A splice site 0.00000912●●●●●●
19. 32374003 c.151C>T p.H51Y missense 0.00000906●●●●●●
20. 32374005 c.153C>G p.H51Q missense 0.00000893●●●●●●
21. 32374006 c.154C>G p.L52V missense 0.00000888●●●●●●
22. 32374009 c.157G>A p.V53M missense 0.00000874●●●●●●
23. 32374014 c.162C>A p.D54E missense 0.00000859●●●●●●
24. 32374018 c.166T>A p.W56R missense 0.00000849●●●●●●
25. 32374024 c.172G>T p.V58F missense 0.00001681●●●●●●
26. 32374028 c.176T>C p.I59T missense 0.00000836●●●●●●
27. 32374034 c.182C>G p.A61G missense 0.00002496●●●●●●
28. 32374039 c.187C>T p.R63W missense 0.00000830●●●●●●
29. 32374040 c.188G>A p.R63Q missense 0.00003317●●●●●●
30. 32374049 c.197C>T p.A66V missense 0.00000827●●●●●●
31. 32374058 c.206A>C p.N69T missense 0.00000826●●●●●●
32. 32374065 c.213C>G p.D71E missense 0.00000825●●●●●●
33. 32374081 c.229A>G p.N77D missense 0.00010717●●●●●●
34. 32374082 c.230A>G p.N77S missense 0.00000824●●●●●●
35. 32374083 c.231C>G p.N77K missense 0.00000824●●●●●●
36. 32374088 c.236C>G p.S79C missense 0.00001649●●●●●●
37. 32374090 c.238C>T p.R80C missense 0.00001649●●●●●●
38. 32374091 c.239G>A p.R80H missense 0.00007419●●●●●●
39. 32374099 c.247G>T p.A83S missense 0.00000824●●●●●●
40. 32374100 c.248C>T p.A83V missense 0.00000824●●●●●●
41. 32374102 c.250G>A p.V84M missense 0.00000824●●●●●●
42. 32374111 c.259A>G p.T87A missense 0.00000824●●●●●●
43. 32374132 c.280A>G p.K94E missense 0.00000824●●●●●●
44. 32374144 c.292A>G p.T98A missense 0.00000824●●●●●●
45. 32374147 c.295A>G p.T99A missense 0.00001648●●●●●●
46. 32374168 c.316C>G p.Q106E missense 0.00025537●●●●●●
47. 32374169 c.317A>T p.Q106L missense 0.00000824●●●●●●
48. 32374204 c.352G>A p.A118T missense 0.00001648●●●●●●
49. 32374214 c.362C>T p.P121L missense 0.00000824●●●●●●
50. 32386176 c.363-7T>C splice site 0.00000838●●●●●●
51. 32386177 c.363-6A>G splice site 0.00000837●●●●●●
52. 32386191 c.371A>G p.H124R missense 0.00010790●●●●●●
53. 32386210 c.390T>G p.F130L missense 0.00001656●●●●●●
54. 32386232 c.412A>G p.T138A missense 0.00003312●●●●●●
55. 32386249 c.429G>T p.K143N missense 0.00000831●●●●●●
56. 32386255 c.435G>A p.M145I missense 0.00000833●●●●●●
57. 32391931 c.457T>C p.S153P missense 0.00000826●●●●●●
58. 32391950 c.476G>A p.S159N missense 0.00007428●●●●●●
59. 32391956 c.482T>C p.V161A missense 0.00003300●●●●●●
60. 32391958 c.484A>G p.M162V missense 0.00000825●●●●●●
61. 32391971 c.497G>A p.R166Q missense 0.00003299●●●●●●
62. 32391989 c.515G>A p.R172Q missense 0.00003299●●●●●●
63. 32391994 c.520G>A p.V174I missense 0.00000825●●●●●●
64. 32392009 c.535A>G p.T179A missense 0.00000824●●●●●●
65. 32392010 c.536C>T p.T179M missense 0.00000824●●●●●●
66. 32392012 c.538G>A p.A180T missense 0.00000824●●●●●●
67. 32392027 c.553C>T p.P185S missense 0.00000825●●●●●●
68. 32395866 c.604-7T>A splice site 0.00004129●●●●●●
69. 32395868 c.604-5T>C splice site 0.00000826●●●●●●
70. 32395883 c.614C>T p.T205M missense 0.00009066●●●●●●
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. 32395979 c.709+1G>A essential splice site 0.00000824●●●●●●
79. 32398137 c.719C>T p.P240L missense 0.00000824●●●●●●
80. 32398172 c.754A>G p.M252V missense 0.00001648●●●●●●
81. 32398188 c.770G>A p.R257Q missense 0.00001648●●●●●●
82. 32398202 c.784C>T p.H262Y missense 0.00003296●●●●●●
83. 32398204 c.786C>A p.H262Q missense 0.00000824●●●●●●
84. 32398205 c.787A>T p.N263Y missense 0.00000824●●●●●●
85. 32398220 c.802C>G p.Q268E missense 0.00000824●●●●●●
86. 32398242 c.824A>G p.H275R missense 0.00000826●●●●●●
87. 32398278 c.860A>G p.K287R missense 0.00000844●●●●●●
88. 32398287 c.869C>T p.T290M missense 0.00005166●●●●●●
89. 32400747 c.877-8C>G splice site 0.00002472●●●●●●
90. 32400761 c.883C>T p.P295S missense 0.00000824●●●●●●
91. 32400768 c.890A>G p.K297R missense 0.00000824●●●●●●
92. 32400782 c.904G>A p.A302T missense 0.00003295●●●●●●
93. 32400782 c.904G>T p.A302S missense 0.00000824●●●●●●
94. 32400810 c.932C>G p.S311C missense 0.00000824●●●●●●
95. 32400815 c.937C>T p.R313C missense 0.00001648●●●●●●
96. 32400815 c.937C>A p.R313S missense 0.00000824●●●●●●
97. 32400816 c.938G>A p.R313H missense 0.00000824●●●●●●
98. 32400822 c.944C>G p.P315R missense 0.00000824●●●●●●
99. 32400833 c.955A>G p.M319V missense 0.00014828●●●●●●
100. 32400840 c.962C>T p.P321L missense 0.00000824●●●●●●
101. 32400847 c.969G>C p.Q323H missense 0.00004119●●●●●●
102. 32400860 c.982C>T p.L328F missense 0.00000824●●●●●●
103. 32400861 c.983T>A p.L328H missense 0.00000824●●●●●●
104. 32400867 c.989T>G p.L330W missense 0.00000824●●●●●●
105. 32400872 c.994C>T p.H332Y missense 0.00000824●●●●●●
106. 32400873 c.995A>G p.H332R missense 0.00000824●●●●●●
107. 32400875 c.997A>G p.I333V missense 0.00001648●●●●●●
108. 32400877 c.999C>T p.I333I splice site 0.00083210●●●●●●
109. 32400878 c.1000G>A p.V334M missense 0.00096393●●●●●●
110. 32400882 c.1001+3G>A splice site 0.00000824●●●●●●
111. 32407551 c.1002-6T>C splice site 0.00012355●●●●●●
112. 32407583 c.1028A>T p.N343I missense 0.00000824●●●●●●
113. 32407585 c.1030G>A p.D344N missense 0.00001647●●●●●●
114. 32407604 c.1049C>T p.S350F missense 0.00000824●●●●●●
115. 32407607 c.1052T>A p.V351D missense 0.00000824●●●●●●
116. 32407621 c.1066A>G p.S356G missense 0.00000824●●●●●●
117. 32407630 c.1075A>G p.I359V missense 0.00000824●●●●●●
118. 32407637 c.1082G>A p.R361K missense 0.00000824●●●●●●
119. 32418050 c.1086-8T>C splice site 0.00273817●●●●●●
120. 32418053 c.1086-5A>G splice site 0.00000834●●●●●●
121. 32418065 c.1093C>T p.P365S missense 0.00005815●●●●●●
122. 32418075 c.1103G>A p.S368N missense 0.00000829●●●●●●
123. 32418092 c.1120A>G p.K374E missense 0.00000828●●●●●●
124. 32418101 c.1129G>T p.A377S missense 0.00003313●●●●●●
125. 32418110 c.1138G>A p.A380T missense 0.00000829●●●●●●
126. 32418110 c.1138G>T p.A380S missense 0.00000829●●●●●●
127. 32418119 c.1147T>G p.F383V missense 0.00000829●●●●●●
128. 32418133 c.1161A>G splice site 0.00000832●●●●●●
129. 32418138 c.1163+3A>C splice site 0.00000834●●●●●●
130. 32418707 c.1164-2A>G essential splice site 0.00000824●●●●●●
131. 32418709 c.1164G>A splice site 0.00000824●●●●●●
132. 32418714 c.1169A>G p.Q390R missense 0.00000824●●●●●●
133. 32418725 c.1180A>G p.N394D missense 0.00004945●●●●●●
134. 32418744 c.1199C>T p.A400V missense 0.00000824●●●●●●
135. 32418746 c.1201G>A p.D401N missense 0.00000824●●●●●●
136. 32418752 c.1207C>T p.H403Y missense 0.00129429●●●●●●
137. 32418758 c.1213C>A p.L405I missense 0.00000824●●●●●●
138. 32418764 c.1219G>A p.G407R missense 0.00001649●●●●●●
139. 32418765 c.1220G>C p.G407A missense 0.00000825●●●●●●
140. 32418777 c.1232A>G p.N411S missense 0.00001649●●●●●●
141. 32418779 c.1234A>G p.M412V missense 0.00000825●●●●●●
142. 32418785 c.1240C>T p.R414W missense 0.00004950●●●●●●
143. 32418786 c.1241G>A p.R414Q missense 0.00000825●●●●●●
144. 32418800 c.1255T>C p.C419R missense 0.00004131●●●●●●
145. 32418800 c.1255T>A p.C419S missense 0.00000826●●●●●●
146. 32418806 c.1256+5G>C splice site 0.00003308●●●●●●
147. 32428254 c.1257-6T>C splice site 0.00000830●●●●●●
148. 32428257 c.1257-3T>C splice site 0.00000829●●●●●●
149. 32428259 c.1257-1G>A essential splice site 0.00000828●●●●●●
150. 32428268 c.1265A>G p.E422G missense 0.00000827●●●●●●
151. 32428279 c.1276C>T p.R426W missense 0.00000826●●●●●●
152. 32428280 c.1277G>A p.R426Q missense 0.00000826●●●●●●
153. 32428310 c.1307G>C p.R436T missense 0.00001652●●●●●●
154. 32428313 c.1310A>G p.Y437C missense 0.00003304●●●●●●
155. 32428316 c.1313C>T p.A438V missense 0.00000826●●●●●●
156. 32428337 c.1334C>T p.S445F missense 0.00000828●●●●●●
157. 32428343 c.1340C>T p.S447L missense 0.00000829●●●●●●
158. 32431787 c.1345-8delT splice site 0.00002493●●●●●●
159. 32431793 c.1345-2A>G essential splice site 0.00000828●●●●●●
160. 32431798 c.1348C>A p.P450T missense 0.00191745●●●●●●
161. 32431804 c.1354C>G p.Q452E missense 0.00000826●●●●●●
162. 32431805 c.1355A>G p.Q452R missense 0.00000826●●●●●●
163. 32431814 c.1364G>C p.S455T missense 0.00043744●●●●●●
164. 32431823 c.1373A>G p.D458G missense 0.00000825●●●●●●
165. 32431837 c.1387A>G p.I463V missense 0.00001650●●●●●●
166. 32431840 c.1390G>A p.D464N missense 0.00006601●●●●●●
167. 32431844 c.1394C>T p.A465V missense 0.00000825●●●●●●
168. 32431858 c.1408A>T p.R470W missense 0.00001652●●●●●●
169. 32431891 c.1441A>G p.R481G missense 0.00000833●●●●●●
170. 32431899 c.1442+7C>T splice site 0.00001678●●●●●●
171. 32438251 c.1445A>G p.E482G missense 0.00000847●●●●●●
172. 32438277 c.1471C>T p.R491W missense 0.00000832●●●●●●
173. 32438278 c.1472G>A p.R491Q missense 0.00014127●●●●●●
174. 32438281 c.1475T>G p.L492R missense 0.00000830●●●●●●
175. 32438285 c.1479G>C p.E493D missense 0.00000830●●●●●●
176. 32438308 c.1502C>T p.T501M missense 0.00028990●●●●●●
177. 32438313 c.1507G>C p.E503Q missense 0.00000828●●●●●●
178. 32438314 c.1508A>T p.E503V missense 0.00000828●●●●●●
179. 32438319 c.1513G>A p.A505T missense 0.00000828●●●●●●
180. 32438329 c.1523A>G p.N508S missense 0.00000829●●●●●●
181. 32438335 c.1529C>T p.T510I missense 0.00000830●●●●●●
182. 32438352 c.1546C>T p.R516W missense 0.00000834●●●●●●
183. 32438355 c.1549C>T p.L517F missense 0.00000835●●●●●●
184. 32438366 c.1556+4G>A splice site 0.00010083●●●●●●
185. 32443935 c.1562G>A p.R521H missense 0.00017243●●●●●●
186. 32443954 c.1581G>C p.Q527H missense 0.00001056●●●●●●
187. 32446070 c.1654-5T>C splice site 0.00000824●●●●●●
188. 32446088 c.1667A>G p.K556R missense 0.00000824●●●●●●
189. 32446093 c.1672G>A p.G558R missense 0.00001648●●●●●●

* 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.