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. 32418050 c.1086-8T>C splice site 0.00273817●●●●●●
2. 32431798 c.1348C>A p.P450T missense 0.00191745●●●●●●
3. 32418752 c.1207C>T p.H403Y missense 0.00129429●●●●●●
4. 32400878 c.1000G>A p.V334M missense 0.00096393●●●●●●
5. 32400877 c.999C>T p.I333I splice site 0.00083210●●●●●●
6. 32431814 c.1364G>C p.S455T missense 0.00043744●●●●●●
7. 32345949 c.92G>A p.R31Q missense 0.00038875●●●●●●
8. 32438308 c.1502C>T p.T501M missense 0.00028990●●●●●●
9. 32374168 c.316C>G p.Q106E missense 0.00025537●●●●●●
10. 32443935 c.1562G>A p.R521H missense 0.00017243●●●●●●
11. 32400833 c.955A>G p.M319V missense 0.00014828●●●●●●
12. 32438278 c.1472G>A p.R491Q missense 0.00014127●●●●●●
13. 32407551 c.1002-6T>C splice site 0.00012355●●●●●●
14. 32386191 c.371A>G p.H124R missense 0.00010790●●●●●●
15. 32374081 c.229A>G p.N77D missense 0.00010717●●●●●●
16. 32438366 c.1556+4G>A splice site 0.00010083●●●●●●
17. 32395883 c.614C>T p.T205M missense 0.00009066●●●●●●
18. 32391950 c.476G>A p.S159N missense 0.00007428●●●●●●
19. 32374091 c.239G>A p.R80H missense 0.00007419●●●●●●
20. 32431840 c.1390G>A p.D464N missense 0.00006601●●●●●●
21. 32418065 c.1093C>T p.P365S missense 0.00005815●●●●●●
22. 32398287 c.869C>T p.T290M missense 0.00005166●●●●●●
23. 32418785 c.1240C>T p.R414W missense 0.00004950●●●●●●
24. 32418725 c.1180A>G p.N394D missense 0.00004945●●●●●●
25. 32418800 c.1255T>C p.C419R missense 0.00004131●●●●●●
26. 32395866 c.604-7T>A splice site 0.00004129●●●●●●
27. 32400847 c.969G>C p.Q323H missense 0.00004119●●●●●●
28. 32374040 c.188G>A p.R63Q missense 0.00003317●●●●●●
29. 32418101 c.1129G>T p.A377S missense 0.00003313●●●●●●
30. 32386232 c.412A>G p.T138A missense 0.00003312●●●●●●
31. 32345942 c.85C>T p.R29C missense 0.00003311●●●●●●
32. 32418806 c.1256+5G>C splice site 0.00003308●●●●●●
33. 32428313 c.1310A>G p.Y437C missense 0.00003304●●●●●●
34. 32391956 c.482T>C p.V161A missense 0.00003300●●●●●●
35. 32391971 c.497G>A p.R166Q missense 0.00003299●●●●●●
36. 32391989 c.515G>A p.R172Q missense 0.00003299●●●●●●
37. 32398202 c.784C>T p.H262Y missense 0.00003296●●●●●●
38. 32400782 c.904G>A p.A302T missense 0.00003295●●●●●●
39. 32345917 c.68-8C>T splice site 0.00002500●●●●●●
40. 32345918 c.68-7G>A splice site 0.00002498●●●●●●
41. 32374034 c.182C>G p.A61G missense 0.00002496●●●●●●
42. 32431787 c.1345-8delT splice site 0.00002493●●●●●●
43. 32400747 c.877-8C>G splice site 0.00002472●●●●●●
44. 32374024 c.172G>T p.V58F missense 0.00001681●●●●●●
45. 32431899 c.1442+7C>T splice site 0.00001678●●●●●●
46. 32346013 c.148+8T>C splice site 0.00001676●●●●●●
47. 32345927 c.70G>T p.A24S missense 0.00001659●●●●●●
48. 32386210 c.390T>G p.F130L missense 0.00001656●●●●●●
49. 32428310 c.1307G>C p.R436T missense 0.00001652●●●●●●
50. 32431858 c.1408A>T p.R470W missense 0.00001652●●●●●●
51. 32431837 c.1387A>G p.I463V missense 0.00001650●●●●●●
52. 32418764 c.1219G>A p.G407R missense 0.00001649●●●●●●
53. 32374088 c.236C>G p.S79C missense 0.00001649●●●●●●
54. 32374090 c.238C>T p.R80C missense 0.00001649●●●●●●
55. 32418777 c.1232A>G p.N411S missense 0.00001649●●●●●●
56. 32374147 c.295A>G p.T99A missense 0.00001648●●●●●●
57. 32374204 c.352G>A p.A118T missense 0.00001648●●●●●●
58. 32395911 c.642G>A p.M214I missense 0.00001648●●●●●●
59. 32398172 c.754A>G p.M252V missense 0.00001648●●●●●●
60. 32398188 c.770G>A p.R257Q missense 0.00001648●●●●●●
61. 32400815 c.937C>T p.R313C missense 0.00001648●●●●●●
62. 32400875 c.997A>G p.I333V missense 0.00001648●●●●●●
63. 32446093 c.1672G>A p.G558R missense 0.00001648●●●●●●
64. 32407585 c.1030G>A p.D344N missense 0.00001647●●●●●●
65. 32443954 c.1581G>C p.Q527H missense 0.00001056●●●●●●
66. 32373997 c.149-4G>A splice site 0.00000940●●●●●●
67. 32374002 c.150G>A splice site 0.00000912●●●●●●
68. 32374003 c.151C>T p.H51Y missense 0.00000906●●●●●●
69. 32374005 c.153C>G p.H51Q missense 0.00000893●●●●●●
70. 32374006 c.154C>G p.L52V missense 0.00000888●●●●●●
71. 32374009 c.157G>A p.V53M missense 0.00000874●●●●●●
72. 0 c.-1-4A>G splice site 0.00000863●●●●●●
73. 32374014 c.162C>A p.D54E missense 0.00000859●●●●●●
74. 32335947 c.7G>A p.E3K missense 0.00000854●●●●●●
75. 32335951 c.11A>G p.D4G missense 0.00000850●●●●●●
76. 32374018 c.166T>A p.W56R missense 0.00000849●●●●●●
77. 32335956 c.16delG p.Arg8GlufsTer15 frameshift 0.00000848●●●●●●
78. 32438251 c.1445A>G p.E482G missense 0.00000847●●●●●●
79. 32335977 c.37G>A p.A13T missense 0.00000844●●●●●●
80. 32335982 c.42A>C p.E14D missense 0.00000844●●●●●●
81. 32398278 c.860A>G p.K287R missense 0.00000844●●●●●●
82. 32386176 c.363-7T>C splice site 0.00000838●●●●●●
83. 32386177 c.363-6A>G splice site 0.00000837●●●●●●
84. 32374028 c.176T>C p.I59T missense 0.00000836●●●●●●
85. 32438355 c.1549C>T p.L517F missense 0.00000835●●●●●●
86. 32418053 c.1086-5A>G splice site 0.00000834●●●●●●
87. 32438352 c.1546C>T p.R516W missense 0.00000834●●●●●●
88. 32418138 c.1163+3A>C splice site 0.00000834●●●●●●
89. 32386255 c.435G>A p.M145I missense 0.00000833●●●●●●
90. 32431891 c.1441A>G p.R481G missense 0.00000833●●●●●●
91. 32438277 c.1471C>T p.R491W missense 0.00000832●●●●●●
92. 32418133 c.1161A>G splice site 0.00000832●●●●●●
93. 32386249 c.429G>T p.K143N missense 0.00000831●●●●●●
94. 32428254 c.1257-6T>C splice site 0.00000830●●●●●●
95. 32374039 c.187C>T p.R63W missense 0.00000830●●●●●●
96. 32438281 c.1475T>G p.L492R missense 0.00000830●●●●●●
97. 32438285 c.1479G>C p.E493D missense 0.00000830●●●●●●
98. 32438335 c.1529C>T p.T510I missense 0.00000830●●●●●●
99. 32345926 c.69G>A splice site 0.00000830●●●●●●
100. 32345990 c.133C>T p.Q45X nonsense 0.00000829●●●●●●
101. 32418075 c.1103G>A p.S368N missense 0.00000829●●●●●●
102. 32418110 c.1138G>A p.A380T missense 0.00000829●●●●●●
103. 32418110 c.1138G>T p.A380S missense 0.00000829●●●●●●
104. 32418119 c.1147T>G p.F383V missense 0.00000829●●●●●●
105. 32428343 c.1340C>T p.S447L missense 0.00000829●●●●●●
106. 32438329 c.1523A>G p.N508S missense 0.00000829●●●●●●
107. 32428257 c.1257-3T>C splice site 0.00000829●●●●●●
108. 32428337 c.1334C>T p.S445F missense 0.00000828●●●●●●
109. 32438314 c.1508A>T p.E503V missense 0.00000828●●●●●●
110. 32418092 c.1120A>G p.K374E missense 0.00000828●●●●●●
111. 32438313 c.1507G>C p.E503Q missense 0.00000828●●●●●●
112. 32438319 c.1513G>A p.A505T missense 0.00000828●●●●●●
113. 32428259 c.1257-1G>A essential splice site 0.00000828●●●●●●
114. 32431793 c.1345-2A>G essential splice site 0.00000828●●●●●●
115. 32345969 c.112G>A p.A38T missense 0.00000827●●●●●●
116. 32428268 c.1265A>G p.E422G missense 0.00000827●●●●●●
117. 32345949 c.92G>C p.R31P missense 0.00000827●●●●●●
118. 32374049 c.197C>T p.A66V missense 0.00000827●●●●●●
119. 32374058 c.206A>C p.N69T missense 0.00000826●●●●●●
120. 32398242 c.824A>G p.H275R missense 0.00000826●●●●●●
121. 32391931 c.457T>C p.S153P missense 0.00000826●●●●●●
122. 32418800 c.1255T>A p.C419S missense 0.00000826●●●●●●
123. 32428279 c.1276C>T p.R426W missense 0.00000826●●●●●●
124. 32428280 c.1277G>A p.R426Q missense 0.00000826●●●●●●
125. 32428316 c.1313C>T p.A438V missense 0.00000826●●●●●●
126. 32431804 c.1354C>G p.Q452E missense 0.00000826●●●●●●
127. 32431805 c.1355A>G p.Q452R missense 0.00000826●●●●●●
128. 32395868 c.604-5T>C splice site 0.00000826●●●●●●
129. 32392027 c.553C>T p.P185S missense 0.00000825●●●●●●
130. 32374065 c.213C>G p.D71E missense 0.00000825●●●●●●
131. 32391958 c.484A>G p.M162V missense 0.00000825●●●●●●
132. 32391994 c.520G>A p.V174I missense 0.00000825●●●●●●
133. 32418765 c.1220G>C p.G407A missense 0.00000825●●●●●●
134. 32418779 c.1234A>G p.M412V missense 0.00000825●●●●●●
135. 32418786 c.1241G>A p.R414Q missense 0.00000825●●●●●●
136. 32431823 c.1373A>G p.D458G missense 0.00000825●●●●●●
137. 32431844 c.1394C>T p.A465V missense 0.00000825●●●●●●
138. 32374214 c.362C>T p.P121L missense 0.00000824●●●●●●
139. 32374144 c.292A>G p.T98A missense 0.00000824●●●●●●
140. 32400822 c.944C>G p.P315R missense 0.00000824●●●●●●
141. 32418744 c.1199C>T p.A400V missense 0.00000824●●●●●●
142. 32374169 c.317A>T p.Q106L missense 0.00000824●●●●●●
143. 32374082 c.230A>G p.N77S missense 0.00000824●●●●●●
144. 32374083 c.231C>G p.N77K missense 0.00000824●●●●●●
145. 32374099 c.247G>T p.A83S missense 0.00000824●●●●●●
146. 32374100 c.248C>T p.A83V missense 0.00000824●●●●●●
147. 32374102 c.250G>A p.V84M missense 0.00000824●●●●●●
148. 32374111 c.259A>G p.T87A missense 0.00000824●●●●●●
149. 32374132 c.280A>G p.K94E missense 0.00000824●●●●●●
150. 32392009 c.535A>G p.T179A missense 0.00000824●●●●●●
151. 32392010 c.536C>T p.T179M missense 0.00000824●●●●●●
152. 32392012 c.538G>A p.A180T missense 0.00000824●●●●●●
153. 32395903 c.634A>G p.T212A missense 0.00000824●●●●●●
154. 32395915 c.646G>T p.D216Y missense 0.00000824●●●●●●
155. 32395919 c.650C>T p.P217L missense 0.00000824●●●●●●
156. 32395925 c.656C>T p.P219L missense 0.00000824●●●●●●
157. 32395936 c.667G>A p.V223I missense 0.00000824●●●●●●
158. 32395964 c.695C>T p.A232V missense 0.00000824●●●●●●
159. 32398137 c.719C>T p.P240L missense 0.00000824●●●●●●
160. 32398204 c.786C>A p.H262Q missense 0.00000824●●●●●●
161. 32398205 c.787A>T p.N263Y missense 0.00000824●●●●●●
162. 32398220 c.802C>G p.Q268E missense 0.00000824●●●●●●
163. 32400761 c.883C>T p.P295S missense 0.00000824●●●●●●
164. 32400768 c.890A>G p.K297R missense 0.00000824●●●●●●
165. 32400782 c.904G>T p.A302S missense 0.00000824●●●●●●
166. 32400810 c.932C>G p.S311C missense 0.00000824●●●●●●
167. 32400815 c.937C>A p.R313S missense 0.00000824●●●●●●
168. 32400816 c.938G>A p.R313H missense 0.00000824●●●●●●
169. 32400840 c.962C>T p.P321L missense 0.00000824●●●●●●
170. 32400860 c.982C>T p.L328F missense 0.00000824●●●●●●
171. 32400861 c.983T>A p.L328H missense 0.00000824●●●●●●
172. 32400867 c.989T>G p.L330W missense 0.00000824●●●●●●
173. 32400872 c.994C>T p.H332Y missense 0.00000824●●●●●●
174. 32400873 c.995A>G p.H332R missense 0.00000824●●●●●●
175. 32407583 c.1028A>T p.N343I missense 0.00000824●●●●●●
176. 32407604 c.1049C>T p.S350F missense 0.00000824●●●●●●
177. 32407607 c.1052T>A p.V351D missense 0.00000824●●●●●●
178. 32407621 c.1066A>G p.S356G missense 0.00000824●●●●●●
179. 32407630 c.1075A>G p.I359V missense 0.00000824●●●●●●
180. 32407637 c.1082G>A p.R361K missense 0.00000824●●●●●●
181. 32418714 c.1169A>G p.Q390R missense 0.00000824●●●●●●
182. 32418746 c.1201G>A p.D401N missense 0.00000824●●●●●●
183. 32418758 c.1213C>A p.L405I missense 0.00000824●●●●●●
184. 32446088 c.1667A>G p.K556R missense 0.00000824●●●●●●
185. 32395979 c.709+1G>A essential splice site 0.00000824●●●●●●
186. 32418707 c.1164-2A>G essential splice site 0.00000824●●●●●●
187. 32400882 c.1001+3G>A splice site 0.00000824●●●●●●
188. 32418709 c.1164G>A splice site 0.00000824●●●●●●
189. 32446070 c.1654-5T>C splice site 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.