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. 32391989 c.515G>A p.R172Q missense 0.00003299●●●●●●
36. 32391971 c.497G>A p.R166Q 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. 32431858 c.1408A>T p.R470W missense 0.00001652●●●●●●
50. 32428310 c.1307G>C p.R436T missense 0.00001652●●●●●●
51. 32431837 c.1387A>G p.I463V missense 0.00001650●●●●●●
52. 32374088 c.236C>G p.S79C missense 0.00001649●●●●●●
53. 32374090 c.238C>T p.R80C missense 0.00001649●●●●●●
54. 32418764 c.1219G>A p.G407R missense 0.00001649●●●●●●
55. 32418777 c.1232A>G p.N411S missense 0.00001649●●●●●●
56. 32395911 c.642G>A p.M214I missense 0.00001648●●●●●●
57. 32400875 c.997A>G p.I333V missense 0.00001648●●●●●●
58. 32374147 c.295A>G p.T99A missense 0.00001648●●●●●●
59. 32398172 c.754A>G p.M252V missense 0.00001648●●●●●●
60. 32374204 c.352G>A p.A118T missense 0.00001648●●●●●●
61. 32400815 c.937C>T p.R313C missense 0.00001648●●●●●●
62. 32398188 c.770G>A p.R257Q 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. 32335982 c.42A>C p.E14D missense 0.00000844●●●●●●
80. 32335977 c.37G>A p.A13T 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. 32418138 c.1163+3A>C splice site 0.00000834●●●●●●
87. 32438352 c.1546C>T p.R516W missense 0.00000834●●●●●●
88. 32418053 c.1086-5A>G splice site 0.00000834●●●●●●
89. 32431891 c.1441A>G p.R481G missense 0.00000833●●●●●●
90. 32386255 c.435G>A p.M145I 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. 32345926 c.69G>A splice site 0.00000830●●●●●●
95. 32428254 c.1257-6T>C splice site 0.00000830●●●●●●
96. 32438281 c.1475T>G p.L492R missense 0.00000830●●●●●●
97. 32374039 c.187C>T p.R63W missense 0.00000830●●●●●●
98. 32438285 c.1479G>C p.E493D missense 0.00000830●●●●●●
99. 32438335 c.1529C>T p.T510I missense 0.00000830●●●●●●
100. 32418119 c.1147T>G p.F383V missense 0.00000829●●●●●●
101. 32438329 c.1523A>G p.N508S missense 0.00000829●●●●●●
102. 32345990 c.133C>T p.Q45X nonsense 0.00000829●●●●●●
103. 32428343 c.1340C>T p.S447L missense 0.00000829●●●●●●
104. 32428257 c.1257-3T>C splice site 0.00000829●●●●●●
105. 32418110 c.1138G>A p.A380T missense 0.00000829●●●●●●
106. 32418075 c.1103G>A p.S368N missense 0.00000829●●●●●●
107. 32418110 c.1138G>T p.A380S missense 0.00000829●●●●●●
108. 32428259 c.1257-1G>A essential splice site 0.00000828●●●●●●
109. 32438319 c.1513G>A p.A505T missense 0.00000828●●●●●●
110. 32428337 c.1334C>T p.S445F missense 0.00000828●●●●●●
111. 32418092 c.1120A>G p.K374E missense 0.00000828●●●●●●
112. 32431793 c.1345-2A>G essential splice site 0.00000828●●●●●●
113. 32438313 c.1507G>C p.E503Q missense 0.00000828●●●●●●
114. 32438314 c.1508A>T p.E503V missense 0.00000828●●●●●●
115. 32345949 c.92G>C p.R31P missense 0.00000827●●●●●●
116. 32428268 c.1265A>G p.E422G missense 0.00000827●●●●●●
117. 32374049 c.197C>T p.A66V missense 0.00000827●●●●●●
118. 32345969 c.112G>A p.A38T missense 0.00000827●●●●●●
119. 32431805 c.1355A>G p.Q452R missense 0.00000826●●●●●●
120. 32428316 c.1313C>T p.A438V missense 0.00000826●●●●●●
121. 32374058 c.206A>C p.N69T missense 0.00000826●●●●●●
122. 32428280 c.1277G>A p.R426Q missense 0.00000826●●●●●●
123. 32395868 c.604-5T>C splice site 0.00000826●●●●●●
124. 32398242 c.824A>G p.H275R missense 0.00000826●●●●●●
125. 32418800 c.1255T>A p.C419S missense 0.00000826●●●●●●
126. 32431804 c.1354C>G p.Q452E missense 0.00000826●●●●●●
127. 32428279 c.1276C>T p.R426W missense 0.00000826●●●●●●
128. 32391931 c.457T>C p.S153P missense 0.00000826●●●●●●
129. 32392027 c.553C>T p.P185S missense 0.00000825●●●●●●
130. 32431844 c.1394C>T p.A465V missense 0.00000825●●●●●●
131. 32418779 c.1234A>G p.M412V missense 0.00000825●●●●●●
132. 32374065 c.213C>G p.D71E missense 0.00000825●●●●●●
133. 32391958 c.484A>G p.M162V missense 0.00000825●●●●●●
134. 32431823 c.1373A>G p.D458G missense 0.00000825●●●●●●
135. 32418786 c.1241G>A p.R414Q missense 0.00000825●●●●●●
136. 32418765 c.1220G>C p.G407A missense 0.00000825●●●●●●
137. 32391994 c.520G>A p.V174I missense 0.00000825●●●●●●
138. 32407630 c.1075A>G p.I359V missense 0.00000824●●●●●●
139. 32407604 c.1049C>T p.S350F missense 0.00000824●●●●●●
140. 32374099 c.247G>T p.A83S missense 0.00000824●●●●●●
141. 32400815 c.937C>A p.R313S missense 0.00000824●●●●●●
142. 32398204 c.786C>A p.H262Q missense 0.00000824●●●●●●
143. 32395903 c.634A>G p.T212A missense 0.00000824●●●●●●
144. 32400882 c.1001+3G>A splice site 0.00000824●●●●●●
145. 32374132 c.280A>G p.K94E missense 0.00000824●●●●●●
146. 32400873 c.995A>G p.H332R missense 0.00000824●●●●●●
147. 32400782 c.904G>T p.A302S missense 0.00000824●●●●●●
148. 32398137 c.719C>T p.P240L missense 0.00000824●●●●●●
149. 32395925 c.656C>T p.P219L missense 0.00000824●●●●●●
150. 32418744 c.1199C>T p.A400V missense 0.00000824●●●●●●
151. 32418758 c.1213C>A p.L405I missense 0.00000824●●●●●●
152. 32392009 c.535A>G p.T179A missense 0.00000824●●●●●●
153. 32407637 c.1082G>A p.R361K missense 0.00000824●●●●●●
154. 32407607 c.1052T>A p.V351D missense 0.00000824●●●●●●
155. 32374100 c.248C>T p.A83V missense 0.00000824●●●●●●
156. 32400861 c.983T>A p.L328H missense 0.00000824●●●●●●
157. 32400816 c.938G>A p.R313H missense 0.00000824●●●●●●
158. 32398205 c.787A>T p.N263Y missense 0.00000824●●●●●●
159. 32446070 c.1654-5T>C splice site 0.00000824●●●●●●
160. 32374169 c.317A>T p.Q106L missense 0.00000824●●●●●●
161. 32395979 c.709+1G>A essential splice site 0.00000824●●●●●●
162. 32374082 c.230A>G p.N77S missense 0.00000824●●●●●●
163. 32400810 c.932C>G p.S311C missense 0.00000824●●●●●●
164. 32395936 c.667G>A p.V223I missense 0.00000824●●●●●●
165. 32392010 c.536C>T p.T179M missense 0.00000824●●●●●●
166. 32407621 c.1066A>G p.S356G missense 0.00000824●●●●●●
167. 32374102 c.250G>A p.V84M missense 0.00000824●●●●●●
168. 32446088 c.1667A>G p.K556R missense 0.00000824●●●●●●
169. 32400867 c.989T>G p.L330W missense 0.00000824●●●●●●
170. 32400840 c.962C>T p.P321L missense 0.00000824●●●●●●
171. 32400761 c.883C>T p.P295S missense 0.00000824●●●●●●
172. 32398220 c.802C>G p.Q268E missense 0.00000824●●●●●●
173. 32395915 c.646G>T p.D216Y missense 0.00000824●●●●●●
174. 32374214 c.362C>T p.P121L missense 0.00000824●●●●●●
175. 32418714 c.1169A>G p.Q390R missense 0.00000824●●●●●●
176. 32418707 c.1164-2A>G essential splice site 0.00000824●●●●●●
177. 32407583 c.1028A>T p.N343I missense 0.00000824●●●●●●
178. 32392012 c.538G>A p.A180T missense 0.00000824●●●●●●
179. 32374144 c.292A>G p.T98A missense 0.00000824●●●●●●
180. 32374111 c.259A>G p.T87A missense 0.00000824●●●●●●
181. 32400860 c.982C>T p.L328F missense 0.00000824●●●●●●
182. 32400872 c.994C>T p.H332Y missense 0.00000824●●●●●●
183. 32374083 c.231C>G p.N77K missense 0.00000824●●●●●●
184. 32400768 c.890A>G p.K297R missense 0.00000824●●●●●●
185. 32395964 c.695C>T p.A232V missense 0.00000824●●●●●●
186. 32395919 c.650C>T p.P217L missense 0.00000824●●●●●●
187. 32400822 c.944C>G p.P315R missense 0.00000824●●●●●●
188. 32418709 c.1164G>A splice site 0.00000824●●●●●●
189. 32418746 c.1201G>A p.D401N 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.