DTNA non-truncating variants in ExAC

DTNA gene summary
DTNA variants in DCM

The table below lists the DTNA non-truncating variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 32395883 c.614C>T p.T205M missense 0.00009066●●●●●●
2. 32391950 c.476G>A p.S159N missense 0.00007428●●●●●●
3. 32374091 c.239G>A p.R80H missense 0.00007419●●●●●●
4. 32431840 c.1390G>A p.D464N missense 0.00006601●●●●●●
5. 32418065 c.1093C>T p.P365S missense 0.00005815●●●●●●
6. 32398287 c.869C>T p.T290M missense 0.00005166●●●●●●
7. 32418785 c.1240C>T p.R414W missense 0.00004950●●●●●●
8. 32418725 c.1180A>G p.N394D missense 0.00004945●●●●●●
9. 32418800 c.1255T>C p.C419R missense 0.00004131●●●●●●
10. 32400847 c.969G>C p.Q323H missense 0.00004119●●●●●●
11. 32374040 c.188G>A p.R63Q missense 0.00003317●●●●●●
12. 32418101 c.1129G>T p.A377S missense 0.00003313●●●●●●
13. 32386232 c.412A>G p.T138A missense 0.00003312●●●●●●
14. 32345942 c.85C>T p.R29C missense 0.00003311●●●●●●
15. 32428313 c.1310A>G p.Y437C missense 0.00003304●●●●●●
16. 32391956 c.482T>C p.V161A missense 0.00003300●●●●●●
17. 32391989 c.515G>A p.R172Q missense 0.00003299●●●●●●
18. 32391971 c.497G>A p.R166Q missense 0.00003299●●●●●●
19. 32398202 c.784C>T p.H262Y missense 0.00003296●●●●●●
20. 32400782 c.904G>A p.A302T missense 0.00003295●●●●●●
21. 32374034 c.182C>G p.A61G missense 0.00002496●●●●●●
22. 32374024 c.172G>T p.V58F missense 0.00001681●●●●●●
23. 32345927 c.70G>T p.A24S missense 0.00001659●●●●●●
24. 32386210 c.390T>G p.F130L missense 0.00001656●●●●●●
25. 32431858 c.1408A>T p.R470W missense 0.00001652●●●●●●
26. 32428310 c.1307G>C p.R436T missense 0.00001652●●●●●●
27. 32431837 c.1387A>G p.I463V missense 0.00001650●●●●●●
28. 32374088 c.236C>G p.S79C missense 0.00001649●●●●●●
29. 32374090 c.238C>T p.R80C missense 0.00001649●●●●●●
30. 32418777 c.1232A>G p.N411S missense 0.00001649●●●●●●
31. 32418764 c.1219G>A p.G407R missense 0.00001649●●●●●●
32. 32446093 c.1672G>A p.G558R missense 0.00001648●●●●●●
33. 32395911 c.642G>A p.M214I missense 0.00001648●●●●●●
34. 32400875 c.997A>G p.I333V missense 0.00001648●●●●●●
35. 32398172 c.754A>G p.M252V missense 0.00001648●●●●●●
36. 32374204 c.352G>A p.A118T missense 0.00001648●●●●●●
37. 32400815 c.937C>T p.R313C missense 0.00001648●●●●●●
38. 32398188 c.770G>A p.R257Q missense 0.00001648●●●●●●
39. 32374147 c.295A>G p.T99A missense 0.00001648●●●●●●
40. 32407585 c.1030G>A p.D344N missense 0.00001647●●●●●●
41. 32443954 c.1581G>C p.Q527H missense 0.00001056●●●●●●
42. 32374003 c.151C>T p.H51Y missense 0.00000906●●●●●●
43. 32374005 c.153C>G p.H51Q missense 0.00000893●●●●●●
44. 32374006 c.154C>G p.L52V missense 0.00000888●●●●●●
45. 32374009 c.157G>A p.V53M missense 0.00000874●●●●●●
46. 32374014 c.162C>A p.D54E missense 0.00000859●●●●●●
47. 32335947 c.7G>A p.E3K missense 0.00000854●●●●●●
48. 32335951 c.11A>G p.D4G missense 0.00000850●●●●●●
49. 32374018 c.166T>A p.W56R missense 0.00000849●●●●●●
50. 32438251 c.1445A>G p.E482G missense 0.00000847●●●●●●
51. 32398278 c.860A>G p.K287R missense 0.00000844●●●●●●
52. 32335977 c.37G>A p.A13T missense 0.00000844●●●●●●
53. 32335982 c.42A>C p.E14D missense 0.00000844●●●●●●
54. 32374028 c.176T>C p.I59T missense 0.00000836●●●●●●
55. 32438355 c.1549C>T p.L517F missense 0.00000835●●●●●●
56. 32438352 c.1546C>T p.R516W missense 0.00000834●●●●●●
57. 32431891 c.1441A>G p.R481G missense 0.00000833●●●●●●
58. 32386255 c.435G>A p.M145I missense 0.00000833●●●●●●
59. 32438277 c.1471C>T p.R491W missense 0.00000832●●●●●●
60. 32386249 c.429G>T p.K143N missense 0.00000831●●●●●●
61. 32438281 c.1475T>G p.L492R missense 0.00000830●●●●●●
62. 32374039 c.187C>T p.R63W missense 0.00000830●●●●●●
63. 32438285 c.1479G>C p.E493D missense 0.00000830●●●●●●
64. 32438335 c.1529C>T p.T510I missense 0.00000830●●●●●●
65. 32418110 c.1138G>T p.A380S missense 0.00000829●●●●●●
66. 32418119 c.1147T>G p.F383V missense 0.00000829●●●●●●
67. 32438329 c.1523A>G p.N508S missense 0.00000829●●●●●●
68. 32428343 c.1340C>T p.S447L missense 0.00000829●●●●●●
69. 32418110 c.1138G>A p.A380T missense 0.00000829●●●●●●
70. 32418075 c.1103G>A p.S368N missense 0.00000829●●●●●●
71. 32438313 c.1507G>C p.E503Q missense 0.00000828●●●●●●
72. 32418092 c.1120A>G p.K374E missense 0.00000828●●●●●●
73. 32438319 c.1513G>A p.A505T missense 0.00000828●●●●●●
74. 32428337 c.1334C>T p.S445F missense 0.00000828●●●●●●
75. 32438314 c.1508A>T p.E503V missense 0.00000828●●●●●●
76. 32374049 c.197C>T p.A66V missense 0.00000827●●●●●●
77. 32345949 c.92G>C p.R31P missense 0.00000827●●●●●●
78. 32428268 c.1265A>G p.E422G missense 0.00000827●●●●●●
79. 32345969 c.112G>A p.A38T missense 0.00000827●●●●●●
80. 32431804 c.1354C>G p.Q452E missense 0.00000826●●●●●●
81. 32398242 c.824A>G p.H275R missense 0.00000826●●●●●●
82. 32428279 c.1276C>T p.R426W missense 0.00000826●●●●●●
83. 32391931 c.457T>C p.S153P missense 0.00000826●●●●●●
84. 32374058 c.206A>C p.N69T missense 0.00000826●●●●●●
85. 32431805 c.1355A>G p.Q452R missense 0.00000826●●●●●●
86. 32428316 c.1313C>T p.A438V missense 0.00000826●●●●●●
87. 32428280 c.1277G>A p.R426Q missense 0.00000826●●●●●●
88. 32418800 c.1255T>A p.C419S missense 0.00000826●●●●●●
89. 32391994 c.520G>A p.V174I missense 0.00000825●●●●●●
90. 32431844 c.1394C>T p.A465V missense 0.00000825●●●●●●
91. 32418779 c.1234A>G p.M412V missense 0.00000825●●●●●●
92. 32374065 c.213C>G p.D71E missense 0.00000825●●●●●●
93. 32392027 c.553C>T p.P185S missense 0.00000825●●●●●●
94. 32391958 c.484A>G p.M162V missense 0.00000825●●●●●●
95. 32431823 c.1373A>G p.D458G missense 0.00000825●●●●●●
96. 32418786 c.1241G>A p.R414Q missense 0.00000825●●●●●●
97. 32418765 c.1220G>C p.G407A missense 0.00000825●●●●●●
98. 32400872 c.994C>T p.H332Y missense 0.00000824●●●●●●
99. 32374083 c.231C>G p.N77K missense 0.00000824●●●●●●
100. 32374214 c.362C>T p.P121L missense 0.00000824●●●●●●
101. 32407583 c.1028A>T p.N343I missense 0.00000824●●●●●●
102. 32400768 c.890A>G p.K297R missense 0.00000824●●●●●●
103. 32395964 c.695C>T p.A232V missense 0.00000824●●●●●●
104. 32418746 c.1201G>A p.D401N missense 0.00000824●●●●●●
105. 32400822 c.944C>G p.P315R missense 0.00000824●●●●●●
106. 32407630 c.1075A>G p.I359V missense 0.00000824●●●●●●
107. 32374111 c.259A>G p.T87A missense 0.00000824●●●●●●
108. 32374099 c.247G>T p.A83S missense 0.00000824●●●●●●
109. 32400860 c.982C>T p.L328F missense 0.00000824●●●●●●
110. 32398204 c.786C>A p.H262Q missense 0.00000824●●●●●●
111. 32395919 c.650C>T p.P217L missense 0.00000824●●●●●●
112. 32395903 c.634A>G p.T212A missense 0.00000824●●●●●●
113. 32400873 c.995A>G p.H332R missense 0.00000824●●●●●●
114. 32407604 c.1049C>T p.S350F missense 0.00000824●●●●●●
115. 32400815 c.937C>A p.R313S missense 0.00000824●●●●●●
116. 32400782 c.904G>T p.A302S missense 0.00000824●●●●●●
117. 32398137 c.719C>T p.P240L missense 0.00000824●●●●●●
118. 32418758 c.1213C>A p.L405I missense 0.00000824●●●●●●
119. 32392009 c.535A>G p.T179A missense 0.00000824●●●●●●
120. 32407637 c.1082G>A p.R361K missense 0.00000824●●●●●●
121. 32374132 c.280A>G p.K94E missense 0.00000824●●●●●●
122. 32400861 c.983T>A p.L328H missense 0.00000824●●●●●●
123. 32395925 c.656C>T p.P219L missense 0.00000824●●●●●●
124. 32374169 c.317A>T p.Q106L missense 0.00000824●●●●●●
125. 32374144 c.292A>G p.T98A missense 0.00000824●●●●●●
126. 32407607 c.1052T>A p.V351D missense 0.00000824●●●●●●
127. 32374100 c.248C>T p.A83V missense 0.00000824●●●●●●
128. 32400810 c.932C>G p.S311C missense 0.00000824●●●●●●
129. 32400816 c.938G>A p.R313H missense 0.00000824●●●●●●
130. 32398205 c.787A>T p.N263Y missense 0.00000824●●●●●●
131. 32392010 c.536C>T p.T179M missense 0.00000824●●●●●●
132. 32418744 c.1199C>T p.A400V missense 0.00000824●●●●●●
133. 32446088 c.1667A>G p.K556R missense 0.00000824●●●●●●
134. 32400867 c.989T>G p.L330W missense 0.00000824●●●●●●
135. 32374082 c.230A>G p.N77S missense 0.00000824●●●●●●
136. 32400761 c.883C>T p.P295S missense 0.00000824●●●●●●
137. 32395936 c.667G>A p.V223I missense 0.00000824●●●●●●
138. 32418714 c.1169A>G p.Q390R missense 0.00000824●●●●●●
139. 32407621 c.1066A>G p.S356G missense 0.00000824●●●●●●
140. 32374102 c.250G>A p.V84M missense 0.00000824●●●●●●
141. 32400840 c.962C>T p.P321L missense 0.00000824●●●●●●
142. 32398220 c.802C>G p.Q268E missense 0.00000824●●●●●●
143. 32395915 c.646G>T p.D216Y missense 0.00000824●●●●●●
144. 32392012 c.538G>A p.A180T 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.