DTNA missense variants in ExAC

DTNA gene summary
DTNA variants in DCM

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