HADHA variants in ExAC

HADHA gene summary
HADHA variants in

The table below lists the HADHA 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. 26432662 c.1072C>A p.Q358K missense 0.00754764●●●●●●
2. 26424008 c.1392+10G>A splice site 0.00696031●●●●●●
3. 26417950 c.1620+11G>C splice site 0.00597160●●●●●●
4. 26455020 c.573+8dupT splice site 0.00261107●●●●●●
5. 26414438 c.2060T>C p.M687T missense 0.00172579●●●●●●
6. 26462021 c.68-10T>G splice site 0.00121907●●●●●●
7. 26418053 c.1528G>C p.E510Q missense 0.00120254●●●●●●
8. 26416647 c.1690-6G>A splice site 0.00113880●●●●●●
9. 26416488 c.1843A>G p.N615D missense 0.00100491●●●●●●
10. 26453084 c.652G>C p.V218L missense 0.00086482●●●●●●
11. 26453147 c.589G>T p.A197S missense 0.00041183●●●●●●
12. 26414385 c.2113G>A p.V705I missense 0.00026412●●●●●●
13. 26467449 c.16G>C p.A6P missense 0.00026045●●●●●●
14. 26420574 c.1465A>G p.K489E missense 0.00017300●●●●●●
15. 26437421 c.809C>T p.A270V missense 0.00014917●●●●●●
16. 26415232 c.1947T>A p.N649K missense 0.00014827●●●●●●
17. 26417449 c.1679G>A p.R560Q missense 0.00013209●●●●●●
18. 26467448 c.17C>T p.A6V missense 0.00013057●●●●●●
19. 26414367 c.2131C>A p.P711T missense 0.00012377●●●●●●
20. 26453165 c.574-3dupT splice site 0.00011534●●●●●●
21. 26462000 c.79C>T p.R27C missense 0.00009935●●●●●●
22. 26414255 c.2156G>A p.R719H missense 0.00009891●●●●●●
23. 26467424 c.41C>T p.S14F missense 0.00009853●●●●●●
24. 26417428 c.1689+11C>T splice site 0.00009100●●●●●●
25. 26461799 c.180+3A>G splice site 0.00009068●●●●●●
26. 26414272 c.2147-8C>G splice site 0.00009067●●●●●●
27. 26416532 c.1799C>T p.A600V missense 0.00009060●●●●●●
28. 26461999 c.80G>T p.R27L missense 0.00008280●●●●●●
29. 26417453 c.1675A>G p.I559V missense 0.00008251●●●●●●
30. 26418043 c.1538C>T p.T513M missense 0.00007413●●●●●●
31. 26467416 c.49A>G p.R17G missense 0.00006793●●●●●●
32. 26417473 c.1655C>T p.A552V missense 0.00006601●●●●●●
33. 26424123 c.1287G>C p.L429F missense 0.00006592●●●●●●
34. 26457213 c.325G>A p.A109T missense 0.00006590●●●●●●
35. 26467436 c.29T>C p.L10P missense 0.00006402●●●●●●
36. 26432739 c.995T>C p.M332T missense 0.00005781●●●●●●
37. 26437358 c.872G>A p.R291Q missense 0.00005768●●●●●●
38. 26426955 c.1196G>A p.R399Q missense 0.00005765●●●●●●
39. 26417491 c.1637A>G p.Y546C missense 0.00004953●●●●●●
40. 26432654 c.1080T>G p.D360E missense 0.00004950●●●●●●
41. 26435497 c.919-2A>G essential splice site 0.00004945●●●●●●
42. 26426934 c.1217A>G p.K406R missense 0.00004942●●●●●●
43. 26417431 c.1689+8T>C splice site 0.00004134●●●●●●
44. 26432749 c.985G>C p.E329Q missense 0.00004132●●●●●●
45. 26414465 c.2033T>C p.V678A missense 0.00004132●●●●●●
46. 26417514 c.1621-7T>C splice site 0.00004130●●●●●●
47. 26461867 c.115A>G p.T39A missense 0.00004129●●●●●●
48. 26424118 c.1292G>A p.G431E missense 0.00004120●●●●●●
49. 26437957 c.764A>G p.K255R missense 0.00004119●●●●●●
50. 26420634 c.1405C>T p.H469Y missense 0.00004119●●●●●●
51. 26416542 c.1789A>G p.K597E missense 0.00004118●●●●●●
52. 26467395 c.67+3G>A splice site 0.00004039●●●●●●
53. 26467403 c.62C>T p.S21F missense 0.00003771●●●●●●
54. 26467461 c.4G>T p.V2L missense 0.00003329●●●●●●
55. 26462004 c.75A>G p.I25M missense 0.00003313●●●●●●
56. 26435433 c.975+6C>T splice site 0.00003300●●●●●●
57. 26414225 c.2186T>C p.I729T missense 0.00003296●●●●●●
58. 26414217 c.2194C>T p.R732W missense 0.00003296●●●●●●
59. 26414216 c.2195G>A p.R732Q missense 0.00003296●●●●●●
60. 26415254 c.1925G>T p.G642V missense 0.00003295●●●●●●
61. 26455041 c.560G>C p.R187T missense 0.00003295●●●●●●
62. 26455057 c.544G>A p.A182T missense 0.00003295●●●●●●
63. 26414196 c.2215G>C p.A739P missense 0.00003295●●●●●●
64. 26455022 c.573+6T>A splice site 0.00003295●●●●●●
65. 26418073 c.1508T>G p.V503G missense 0.00003295●●●●●●
66. 26415255 c.1924G>A p.G642S missense 0.00003295●●●●●●
67. 26457113 c.425A>G p.N142S missense 0.00003295●●●●●●
68. 26437319 c.911T>C p.I304T missense 0.00003295●●●●●●
69. 26467449 c.16G>A p.A6T missense 0.00003256●●●●●●
70. 26424011 c.1392+7A>G splice site 0.00002496●●●●●●
71. 26461999 c.80G>A p.R27H missense 0.00002484●●●●●●
72. 26414472 c.2026C>T p.R676C missense 0.00002480●●●●●●
73. 26415170 c.2000+9G>A splice site 0.00002477●●●●●●
74. 26437409 c.821C>T p.T274I missense 0.00002477●●●●●●
75. 26459860 c.181-4G>A splice site 0.00002476●●●●●●
76. 26414366 c.2132C>T p.P711L missense 0.00002476●●●●●●
77. 26432682 c.1052A>C p.K351T missense 0.00002474●●●●●●
78. 26457226 c.315-3C>T splice site 0.00002473●●●●●●
79. 26416635 c.1696G>A p.V566I missense 0.00002473●●●●●●
80. 26461824 c.158G>A p.R53Q missense 0.00002473●●●●●●
81. 26457222 c.316A>G p.M106V missense 0.00002472●●●●●●
82. 26437361 c.869T>C p.V290A missense 0.00002472●●●●●●
83. 26426974 c.1177A>G p.T393A missense 0.00002471●●●●●●
84. 26417998 c.1583T>C p.V528A missense 0.00002471●●●●●●
85. 26416502 c.1829G>A p.R610Q missense 0.00002471●●●●●●
86. 26416601 c.1730G>T p.S577I missense 0.00002471●●●●●●
87. 26417959 c.1620+2_1620+6delTAAGG splice site 0.00002471●●●●●●
88. 26437923 c.798A>T p.E266D missense 0.00002471●●●●●●
89. 26414174 c.2237delC p.Pro746HisfsTer5 frameshift 0.00002471●●●●●●
90. 26424018 c.1392G>A splice site 0.00001660●●●●●●
91. 26414489 c.2009A>G p.D670G missense 0.00001657●●●●●●
92. 26414457 c.2041T>C p.F681L missense 0.00001652●●●●●●
93. 26461863 c.119A>C p.H40P missense 0.00001651●●●●●●
94. 26424086 c.1324G>A p.D442N missense 0.00001650●●●●●●
95. 26438017 c.704G>A p.R235Q missense 0.00001649●●●●●●
96. 26418090 c.1491G>A p.M497I missense 0.00001648●●●●●●
97. 26437936 c.785A>C p.K262T missense 0.00001648●●●●●●
98. 26459772 c.265G>A p.V89I missense 0.00001648●●●●●●
99. 26418099 c.1482G>T splice site 0.00001648●●●●●●
100. 26420621 c.1418C>A p.A473D missense 0.00001648●●●●●●
101. 26437355 c.875A>C p.K292T missense 0.00001648●●●●●●
102. 26414141 c.2270C>T p.P757L missense 0.00001648●●●●●●
103. 26414219 c.2192A>T p.D731V missense 0.00001648●●●●●●
104. 26420552 c.1479+8C>T splice site 0.00001648●●●●●●
105. 26414244 c.2167C>G p.L723V missense 0.00001648●●●●●●
106. 26459838 c.199G>C p.E67Q missense 0.00001648●●●●●●
107. 26459820 c.217T>C p.S73P missense 0.00001648●●●●●●
108. 26414235 c.2176G>A p.A726T missense 0.00001648●●●●●●
109. 26414162 c.2249T>C p.L750P missense 0.00001647●●●●●●
110. 26418038 c.1543G>A p.E515K missense 0.00001647●●●●●●
111. 26453138 c.598A>G p.M200V missense 0.00001647●●●●●●
112. 26426989 c.1162A>T p.I388L missense 0.00001647●●●●●●
113. 26414191 c.2220T>A p.Y740X nonsense 0.00001647●●●●●●
114. 26417992 c.1589T>A p.L530H missense 0.00001647●●●●●●
115. 26453113 c.623G>C p.R208P missense 0.00001647●●●●●●
116. 26426964 c.1187C>T p.A396V missense 0.00001647●●●●●●
117. 26427010 c.1141G>A p.V381M missense 0.00001647●●●●●●
118. 26416538 c.1793_1794delAT frameshift 0.00001647●●●●●●
119. 26455030 c.571A>G p.M191V missense 0.00001647●●●●●●
120. 26418063 c.1518G>A p.M506I missense 0.00001647●●●●●●
121. 26427022 c.1129G>A p.A377T missense 0.00001647●●●●●●
122. 26417955 c.1620+6G>A splice site 0.00001647●●●●●●
123. 26416465 c.1866G>A p.M622I missense 0.00001647●●●●●●
124. 26426953 c.1198G>A p.G400R missense 0.00001647●●●●●●
125. 26418074 c.1507G>A p.V503M missense 0.00001647●●●●●●
126. 26415267 c.1912A>G p.I638V missense 0.00001647●●●●●●
127. 26455147 c.454G>C p.V152L missense 0.00000834●●●●●●
128. 26437430 c.800A>G p.K267R missense 0.00000833●●●●●●
129. 26437425 c.805A>G p.T269A missense 0.00000831●●●●●●
130. 26424016 c.1392+2dupT splice site 0.00000831●●●●●●
131. 26414501 c.2001-4G>A splice site 0.00000830●●●●●●
132. 26424019 c.1391C>T p.A464V missense 0.00000830●●●●●●
133. 26424025 c.1385T>G p.V462G missense 0.00000829●●●●●●
134. 26424034 c.1376T>C p.L459P missense 0.00000828●●●●●●
135. 26461996 c.83A>G p.N28S missense 0.00000828●●●●●●
136. 26461990 c.89C>T p.T30I missense 0.00000828●●●●●●
137. 26461997 c.82A>T p.N28Y missense 0.00000828●●●●●●
138. 26437413 c.817A>G p.M273V missense 0.00000827●●●●●●
139. 26424192 c.1221-3T>C splice site 0.00000827●●●●●●
140. 26461975 c.104T>C p.L35S missense 0.00000827●●●●●●
141. 26424040 c.1370G>A p.R457K missense 0.00000827●●●●●●
142. 26414480 c.2018delT p.Ile673ThrfsTer6 frameshift 0.00000827●●●●●●
143. 26424055 c.1355T>G p.L452R missense 0.00000827●●●●●●
144. 26414466 c.2032G>C p.V678L missense 0.00000826●●●●●●
145. 26417449 c.1679G>T p.R560L missense 0.00000826●●●●●●
146. 26424176 c.1234G>C p.V412L missense 0.00000826●●●●●●
147. 26432731 c.1003G>A p.E335K missense 0.00000826●●●●●●
148. 26438047 c.677-3T>C splice site 0.00000826●●●●●●
149. 26461879 c.110-7T>C splice site 0.00000826●●●●●●
150. 26417503 c.1625G>A p.G542E missense 0.00000826●●●●●●
151. 26432743 c.991G>A p.V331I missense 0.00000826●●●●●●
152. 26438049 c.677-5T>A splice site 0.00000826●●●●●●
153. 26414405 c.2093C>T p.A698V missense 0.00000825●●●●●●
154. 26461854 c.128A>G p.Y43C missense 0.00000825●●●●●●
155. 26415301 c.1886-8T>C splice site 0.00000825●●●●●●
156. 26414359 c.2139T>A p.C713X nonsense 0.00000825●●●●●●
157. 26432689 c.1045T>A p.C349S missense 0.00000825●●●●●●
158. 26417486 c.1642A>G p.T548A missense 0.00000825●●●●●●
159. 26414394 c.2104A>G p.I702V missense 0.00000825●●●●●●
160. 26414396 c.2102_2110delACATCGGAG p.Asp701_Gly703del inframe 0.00000825●●●●●●
161. 26459854 c.183A>G p.V61V splice site 0.00000825●●●●●●
162. 26417450 c.1678C>T p.R560X nonsense 0.00000825●●●●●●
163. 26432695 c.1039G>A p.V347I missense 0.00000825●●●●●●
164. 26461856 c.126C>G p.N42K missense 0.00000825●●●●●●
165. 26415171 c.2000+8C>T splice site 0.00000825●●●●●●
166. 26424086 c.1324G>C p.D442H missense 0.00000825●●●●●●
167. 26415180 c.1999G>A p.V667I missense 0.00000825●●●●●●
168. 26432703 c.1031A>T p.H344L missense 0.00000825●●●●●●
169. 26417473 c.1655C>G p.A552G missense 0.00000825●●●●●●
170. 26414394 c.2104A>C p.I702L missense 0.00000825●●●●●●
171. 26461857 c.125A>G p.N42S missense 0.00000825●●●●●●
172. 26424074 c.1336G>A p.E446K missense 0.00000825●●●●●●
173. 26432685 c.1049A>G p.K350R missense 0.00000825●●●●●●
174. 26417485 c.1643C>T p.T548I missense 0.00000825●●●●●●
175. 26432712 c.1022G>A p.G341E missense 0.00000825●●●●●●
176. 26414349 c.2146+3T>G splice site 0.00000825●●●●●●
177. 26424083 c.1327A>G p.M443V missense 0.00000825●●●●●●
178. 26420600 c.1439C>A p.P480Q missense 0.00000824●●●●●●
179. 26435498 c.919-3T>G splice site 0.00000824●●●●●●
180. 26457215 c.323C>A p.A108D missense 0.00000824●●●●●●
181. 26414170 c.2241C>A p.C747X nonsense 0.00000824●●●●●●
182. 26427030 c.1121C>T p.A374V missense 0.00000824●●●●●●
183. 26416622 c.1709A>G p.K570R missense 0.00000824●●●●●●
184. 26457112 c.426T>G p.N142K missense 0.00000824●●●●●●
185. 26416482 c.1849G>A p.E617K missense 0.00000824●●●●●●
186. 26416458 c.1873A>C p.K625Q missense 0.00000824●●●●●●
187. 26414271 c.2147-7_2147-6insGA splice site 0.00000824●●●●●●
188. 26416554 c.1777G>A p.V593M missense 0.00000824●●●●●●
189. 26438018 c.703_704dupCG p.Thr236GlyfsTer3 frameshift 0.00000824●●●●●●
190. 26418058 c.1523delT p.Leu508ArgfsTer19 frameshift 0.00000824●●●●●●
191. 26437967 c.754G>A p.A252T missense 0.00000824●●●●●●
192. 26415228 c.1951G>T p.D651Y missense 0.00000824●●●●●●
193. 26415192 c.1987C>A p.P663T missense 0.00000824●●●●●●
194. 26461815 c.167C>G p.S56C missense 0.00000824●●●●●●
195. 26418079 c.1502C>G p.S501C missense 0.00000824●●●●●●
196. 26418058 c.1523T>C p.L508P missense 0.00000824●●●●●●
197. 26415212 c.1967delT frameshift 0.00000824●●●●●●
198. 26457197 c.341A>C p.Q114P missense 0.00000824●●●●●●
199. 26437990 c.731C>T p.A244V missense 0.00000824●●●●●●
200. 26455083 c.518A>C p.E173A missense 0.00000824●●●●●●
201. 26427009 c.1142T>C p.V381A missense 0.00000824●●●●●●
202. 26416583 c.1748G>A p.G583D missense 0.00000824●●●●●●
203. 26438015 c.706A>G p.T236A missense 0.00000824●●●●●●
204. 26415290 c.1889G>A p.R630H missense 0.00000824●●●●●●
205. 26420580 c.1459G>C p.V487L missense 0.00000824●●●●●●
206. 26437939 c.782A>G p.D261G missense 0.00000824●●●●●●
207. 26437915 c.799+7A>G splice site 0.00000824●●●●●●
208. 26459798 c.239G>A p.W80X nonsense 0.00000824●●●●●●
209. 26435492 c.922G>A p.V308I missense 0.00000824●●●●●●
210. 26459729 c.308A>G p.D103G missense 0.00000824●●●●●●
211. 26435455 c.959A>G p.Y320C missense 0.00000824●●●●●●
212. 26418038 c.1543G>C p.E515Q missense 0.00000824●●●●●●
213. 26457147 c.391G>A p.E131K missense 0.00000824●●●●●●
214. 26457090 c.448C>T p.L150F missense 0.00000824●●●●●●
215. 26459727 c.310A>G p.I104V missense 0.00000824●●●●●●
216. 26420632 c.1407delC p.Cys470ValfsTer25 frameshift 0.00000824●●●●●●
217. 26453147 c.589G>A p.A197T missense 0.00000824●●●●●●
218. 26416548 c.1783G>A p.V595I missense 0.00000824●●●●●●
219. 26416464 c.1867G>A p.V623M missense 0.00000824●●●●●●
220. 26455064 c.537_538insA p.Pro180ThrfsTer26 frameshift 0.00000824●●●●●●
221. 26415201 c.1978A>C p.K660Q missense 0.00000824●●●●●●
222. 26437970 c.751C>G p.L251V missense 0.00000824●●●●●●
223. 26461818 c.164A>G p.N55S missense 0.00000824●●●●●●
224. 26418085 c.1496A>G p.Y499C missense 0.00000824●●●●●●
225. 26418062 c.1519C>G p.Q507E missense 0.00000824●●●●●●
226. 26457201 c.337C>T p.L113F missense 0.00000824●●●●●●
227. 26426922 c.1220+9G>A splice site 0.00000824●●●●●●
228. 26426988 c.1163T>C p.I388T missense 0.00000824●●●●●●
229. 26416587 c.1744G>C p.V582L missense 0.00000824●●●●●●
230. 26426977 c.1174G>A p.A392T missense 0.00000824●●●●●●
231. 26455041 c.560G>A p.R187K missense 0.00000824●●●●●●
232. 26455089 c.512C>T p.T171I missense 0.00000824●●●●●●
233. 26453125 c.611G>C p.G204A missense 0.00000824●●●●●●
234. 26424121 c.1289C>T p.T430I missense 0.00000824●●●●●●
235. 26416484 c.1847C>T p.P616L missense 0.00000824●●●●●●
236. 26420640 c.1399C>G p.P467A missense 0.00000824●●●●●●
237. 26420598 c.1441A>G p.I481V missense 0.00000824●●●●●●
238. 26435459 c.955G>A p.G319S missense 0.00000824●●●●●●
239. 26437917 c.799+5G>A splice site 0.00000824●●●●●●
240. 26459837 c.200A>G p.E67G missense 0.00000824●●●●●●
241. 26435495 c.919G>A p.V307M missense 0.00000824●●●●●●
242. 26420552 c.1479+8C>A splice site 0.00000824●●●●●●
243. 26457152 c.386A>G p.K129R missense 0.00000824●●●●●●
244. 26416503 c.1828C>G p.R610G missense 0.00000824●●●●●●
245. 26457107 c.431C>G p.S144C missense 0.00000824●●●●●●
246. 26414181 c.2230T>C p.F744L missense 0.00000824●●●●●●
247. 26414267 c.2147-3C>A splice site 0.00000824●●●●●●
248. 26455063 c.538C>T p.P180S missense 0.00000824●●●●●●
249. 26426965 c.1186G>A p.A396T missense 0.00000824●●●●●●
250. 26416578 c.1753G>A p.A585T missense 0.00000824●●●●●●
251. 26416503 c.1828C>T p.R610W missense 0.00000824●●●●●●
252. 26437972 c.749G>A p.G250E missense 0.00000824●●●●●●
253. 26415251 c.1928T>C p.V643A missense 0.00000824●●●●●●
254. 26415209 c.1970C>T p.A657V missense 0.00000824●●●●●●
255. 26453058 c.676+2T>C essential splice site 0.00000824●●●●●●
256. 26418088 c.1493A>G p.H498R missense 0.00000824●●●●●●
257. 26435439 c.975G>A splice site 0.00000824●●●●●●
258. 26459742 c.295A>G p.I99V missense 0.00000824●●●●●●
259. 26457205 c.333G>C p.K111N missense 0.00000824●●●●●●
260. 26418001 c.1580C>A p.A527E missense 0.00000824●●●●●●
261. 26414159 c.2252C>G p.A751G missense 0.00000824●●●●●●
262. 26417966 c.1615G>A p.V539I missense 0.00000824●●●●●●
263. 26418074 c.1507G>T p.V503L missense 0.00000824●●●●●●
264. 26415296 c.1886-3T>C splice site 0.00000824●●●●●●
265. 26455092 c.509G>C p.G170A missense 0.00000824●●●●●●
266. 26437938 c.783C>G p.D261E missense 0.00000824●●●●●●
267. 26457146 c.392A>T p.E131V missense 0.00000824●●●●●●
268. 26424106 c.1304A>G p.Y435C missense 0.00000824●●●●●●
269. 26415291 c.1888C>T p.R630C missense 0.00000824●●●●●●
270. 26437921 c.799+1G>A essential splice site 0.00000824●●●●●●
271. 26415270 c.1909dupT p.Tyr637LeufsTer15 frameshift 0.00000824●●●●●●
272. 26453135 c.601A>G p.M201V missense 0.00000824●●●●●●
273. 26437964 c.757G>T p.D253Y missense 0.00000824●●●●●●
274. 26420619 c.1420A>G p.S474G missense 0.00000824●●●●●●
275. 26415189 c.1990A>G p.K664E missense 0.00000824●●●●●●
276. 26437322 c.908A>C p.K303T missense 0.00000824●●●●●●
277. 26435476 c.938A>G p.E313G missense 0.00000824●●●●●●
278. 26418055 c.1526T>C p.L509P missense 0.00000824●●●●●●
279. 26457227 c.315-4G>A splice site 0.00000824●●●●●●
280. 26437978 c.743C>T p.A248V missense 0.00000824●●●●●●
281. 26418111 c.1480-10C>T splice site 0.00000824●●●●●●
282. 26420556 c.1479+4A>C splice site 0.00000824●●●●●●
283. 26457188 c.350C>T p.T117I missense 0.00000824●●●●●●
284. 26461825 c.157C>T p.R53X nonsense 0.00000824●●●●●●
285. 26455081 c.520G>A p.V174I missense 0.00000824●●●●●●
286. 26426989 c.1162A>G p.I388V missense 0.00000824●●●●●●
287. 26455040 c.561G>T p.R187S missense 0.00000824●●●●●●
288. 26426967 c.1184C>A p.T395N missense 0.00000824●●●●●●
289. 26416583 c.1748G>C p.G583A missense 0.00000824●●●●●●
290. 26453095 c.641A>G p.K214R missense 0.00000824●●●●●●
291. 26438012 c.709A>G p.I237V missense 0.00000824●●●●●●
292. 26415252 c.1927G>A p.V643M 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.