DTNA protein-altering variants in ExAC

DTNA gene summary
DTNA variants in DCM

The table below lists the DTNA protein-altering 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. 32428310 c.1307G>C p.R436T missense 0.00001652●●●●●●
26. 32431858 c.1408A>T p.R470W missense 0.00001652●●●●●●
27. 32431837 c.1387A>G p.I463V missense 0.00001650●●●●●●
28. 32418777 c.1232A>G p.N411S missense 0.00001649●●●●●●
29. 32374088 c.236C>G p.S79C missense 0.00001649●●●●●●
30. 32374090 c.238C>T p.R80C missense 0.00001649●●●●●●
31. 32418764 c.1219G>A p.G407R missense 0.00001649●●●●●●
32. 32398188 c.770G>A p.R257Q missense 0.00001648●●●●●●
33. 32400815 c.937C>T p.R313C missense 0.00001648●●●●●●
34. 32374147 c.295A>G p.T99A missense 0.00001648●●●●●●
35. 32446093 c.1672G>A p.G558R missense 0.00001648●●●●●●
36. 32398172 c.754A>G p.M252V missense 0.00001648●●●●●●
37. 32395911 c.642G>A p.M214I missense 0.00001648●●●●●●
38. 32374204 c.352G>A p.A118T missense 0.00001648●●●●●●
39. 32400875 c.997A>G p.I333V 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. 32335956 c.16delG p.Arg8GlufsTer15 frameshift 0.00000848●●●●●●
51. 32438251 c.1445A>G p.E482G missense 0.00000847●●●●●●
52. 32335977 c.37G>A p.A13T missense 0.00000844●●●●●●
53. 32398278 c.860A>G p.K287R missense 0.00000844●●●●●●
54. 32335982 c.42A>C p.E14D missense 0.00000844●●●●●●
55. 32374028 c.176T>C p.I59T missense 0.00000836●●●●●●
56. 32438355 c.1549C>T p.L517F missense 0.00000835●●●●●●
57. 32438352 c.1546C>T p.R516W missense 0.00000834●●●●●●
58. 32386255 c.435G>A p.M145I missense 0.00000833●●●●●●
59. 32431891 c.1441A>G p.R481G missense 0.00000833●●●●●●
60. 32438277 c.1471C>T p.R491W missense 0.00000832●●●●●●
61. 32386249 c.429G>T p.K143N missense 0.00000831●●●●●●
62. 32438335 c.1529C>T p.T510I missense 0.00000830●●●●●●
63. 32438281 c.1475T>G p.L492R missense 0.00000830●●●●●●
64. 32374039 c.187C>T p.R63W missense 0.00000830●●●●●●
65. 32438285 c.1479G>C p.E493D missense 0.00000830●●●●●●
66. 32428343 c.1340C>T p.S447L missense 0.00000829●●●●●●
67. 32418075 c.1103G>A p.S368N missense 0.00000829●●●●●●
68. 32418110 c.1138G>A p.A380T missense 0.00000829●●●●●●
69. 32418110 c.1138G>T p.A380S missense 0.00000829●●●●●●
70. 32345990 c.133C>T p.Q45X nonsense 0.00000829●●●●●●
71. 32418119 c.1147T>G p.F383V missense 0.00000829●●●●●●
72. 32438329 c.1523A>G p.N508S missense 0.00000829●●●●●●
73. 32428337 c.1334C>T p.S445F missense 0.00000828●●●●●●
74. 32438313 c.1507G>C p.E503Q missense 0.00000828●●●●●●
75. 32428259 c.1257-1G>A essential splice site 0.00000828●●●●●●
76. 32438319 c.1513G>A p.A505T missense 0.00000828●●●●●●
77. 32418092 c.1120A>G p.K374E missense 0.00000828●●●●●●
78. 32438314 c.1508A>T p.E503V missense 0.00000828●●●●●●
79. 32431793 c.1345-2A>G essential splice site 0.00000828●●●●●●
80. 32345969 c.112G>A p.A38T missense 0.00000827●●●●●●
81. 32374049 c.197C>T p.A66V missense 0.00000827●●●●●●
82. 32345949 c.92G>C p.R31P missense 0.00000827●●●●●●
83. 32428268 c.1265A>G p.E422G missense 0.00000827●●●●●●
84. 32398242 c.824A>G p.H275R missense 0.00000826●●●●●●
85. 32418800 c.1255T>A p.C419S missense 0.00000826●●●●●●
86. 32431804 c.1354C>G p.Q452E missense 0.00000826●●●●●●
87. 32428279 c.1276C>T p.R426W missense 0.00000826●●●●●●
88. 32391931 c.457T>C p.S153P missense 0.00000826●●●●●●
89. 32431805 c.1355A>G p.Q452R missense 0.00000826●●●●●●
90. 32428316 c.1313C>T p.A438V missense 0.00000826●●●●●●
91. 32374058 c.206A>C p.N69T missense 0.00000826●●●●●●
92. 32428280 c.1277G>A p.R426Q missense 0.00000826●●●●●●
93. 32391994 c.520G>A p.V174I missense 0.00000825●●●●●●
94. 32431844 c.1394C>T p.A465V missense 0.00000825●●●●●●
95. 32418779 c.1234A>G p.M412V missense 0.00000825●●●●●●
96. 32374065 c.213C>G p.D71E missense 0.00000825●●●●●●
97. 32391958 c.484A>G p.M162V missense 0.00000825●●●●●●
98. 32431823 c.1373A>G p.D458G missense 0.00000825●●●●●●
99. 32418786 c.1241G>A p.R414Q missense 0.00000825●●●●●●
100. 32418765 c.1220G>C p.G407A missense 0.00000825●●●●●●
101. 32392027 c.553C>T p.P185S missense 0.00000825●●●●●●
102. 32395936 c.667G>A p.V223I missense 0.00000824●●●●●●
103. 32418714 c.1169A>G p.Q390R missense 0.00000824●●●●●●
104. 32407621 c.1066A>G p.S356G missense 0.00000824●●●●●●
105. 32374102 c.250G>A p.V84M missense 0.00000824●●●●●●
106. 32400840 c.962C>T p.P321L missense 0.00000824●●●●●●
107. 32398220 c.802C>G p.Q268E missense 0.00000824●●●●●●
108. 32395915 c.646G>T p.D216Y missense 0.00000824●●●●●●
109. 32392012 c.538G>A p.A180T missense 0.00000824●●●●●●
110. 32418707 c.1164-2A>G essential splice site 0.00000824●●●●●●
111. 32407583 c.1028A>T p.N343I missense 0.00000824●●●●●●
112. 32400872 c.994C>T p.H332Y missense 0.00000824●●●●●●
113. 32374083 c.231C>G p.N77K missense 0.00000824●●●●●●
114. 32400768 c.890A>G p.K297R missense 0.00000824●●●●●●
115. 32395964 c.695C>T p.A232V missense 0.00000824●●●●●●
116. 32418746 c.1201G>A p.D401N missense 0.00000824●●●●●●
117. 32407630 c.1075A>G p.I359V missense 0.00000824●●●●●●
118. 32374111 c.259A>G p.T87A missense 0.00000824●●●●●●
119. 32400860 c.982C>T p.L328F missense 0.00000824●●●●●●
120. 32374214 c.362C>T p.P121L missense 0.00000824●●●●●●
121. 32395919 c.650C>T p.P217L missense 0.00000824●●●●●●
122. 32374169 c.317A>T p.Q106L missense 0.00000824●●●●●●
123. 32395903 c.634A>G p.T212A missense 0.00000824●●●●●●
124. 32400873 c.995A>G p.H332R missense 0.00000824●●●●●●
125. 32400822 c.944C>G p.P315R missense 0.00000824●●●●●●
126. 32407604 c.1049C>T p.S350F missense 0.00000824●●●●●●
127. 32374099 c.247G>T p.A83S missense 0.00000824●●●●●●
128. 32400815 c.937C>A p.R313S missense 0.00000824●●●●●●
129. 32400782 c.904G>T p.A302S missense 0.00000824●●●●●●
130. 32398204 c.786C>A p.H262Q missense 0.00000824●●●●●●
131. 32398137 c.719C>T p.P240L missense 0.00000824●●●●●●
132. 32418758 c.1213C>A p.L405I missense 0.00000824●●●●●●
133. 32392009 c.535A>G p.T179A missense 0.00000824●●●●●●
134. 32418744 c.1199C>T p.A400V missense 0.00000824●●●●●●
135. 32407637 c.1082G>A p.R361K missense 0.00000824●●●●●●
136. 32374132 c.280A>G p.K94E missense 0.00000824●●●●●●
137. 32400861 c.983T>A p.L328H missense 0.00000824●●●●●●
138. 32395925 c.656C>T p.P219L missense 0.00000824●●●●●●
139. 32407607 c.1052T>A p.V351D missense 0.00000824●●●●●●
140. 32374100 c.248C>T p.A83V missense 0.00000824●●●●●●
141. 32400810 c.932C>G p.S311C missense 0.00000824●●●●●●
142. 32400816 c.938G>A p.R313H missense 0.00000824●●●●●●
143. 32398205 c.787A>T p.N263Y missense 0.00000824●●●●●●
144. 32392010 c.536C>T p.T179M missense 0.00000824●●●●●●
145. 32395979 c.709+1G>A essential splice site 0.00000824●●●●●●
146. 32446088 c.1667A>G p.K556R missense 0.00000824●●●●●●
147. 32400867 c.989T>G p.L330W missense 0.00000824●●●●●●
148. 32374082 c.230A>G p.N77S missense 0.00000824●●●●●●
149. 32374144 c.292A>G p.T98A missense 0.00000824●●●●●●
150. 32400761 c.883C>T p.P295S 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.