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