GAA variants in ExAC

GAA gene summary
GAA variants in

The table below lists the GAA 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. 78091405 c.2338G>A p.V780I missense 0.72960984●●●●●●
2. 78079669 c.668G>A p.R223H missense 0.67598766●●●●●●
3. 78079544 c.547-4C>G splice site 0.67586081●●●●●●
4. 78079597 c.596A>G p.H199R missense 0.67455416●●●●●●
5. 78087041 c.2065G>A p.E689K missense 0.08796957●●●●●●
6. 78091513 c.2446G>A p.V816I missense 0.06040049●●●●●●
7. 78092585 c.2780C>T p.T927I missense 0.02201680●●●●●●
8. 78078656 c.271G>A p.D91N missense 0.02109490●●●●●●
9. 78085871 c.1726G>A p.G576S missense 0.01792559●●●●●●
10. 78081529 c.858+8G>A splice site 0.00420521●●●●●●
11. 78092473 c.2668G>C p.V890L missense 0.00364596●●●●●●
12. 78082586 c.1285C>G p.Q429E missense 0.00176599●●●●●●
13. 78083760 c.1343G>C p.S448T missense 0.00137831●●●●●●
14. 78078753 c.368G>A p.G123E missense 0.00121623●●●●●●
15. 78082587 c.1286A>G p.Q429R missense 0.00115084●●●●●●
16. 78079665 c.664G>A p.V222M missense 0.00090036●●●●●●
17. 78081657 c.917C>T p.S306L missense 0.00089444●●●●●●
18. 78092444 c.2647-8C>T splice site 0.00072577●●●●●●
19. 78079677 c.676C>G p.L226V missense 0.00070444●●●●●●
20. 78078642 c.257C>G p.P86R missense 0.00060203●●●●●●
21. 78087131 c.2155G>T p.A719S missense 0.00049979●●●●●●
22. 78083769 c.1352C>G p.P451R missense 0.00043478●●●●●●
23. 78091484 c.2417C>T p.T806M missense 0.00036965●●●●●●
24. 78087128 c.2152G>A p.V718I missense 0.00035937●●●●●●
25. 78078650 c.265C>T p.R89C missense 0.00032932●●●●●●
26. 78082566 c.1265G>A p.R422Q missense 0.00032675●●●●●●
27. 78081352 c.693-4G>T splice site 0.00030752●●●●●●
28. 78090815 c.2238G>C p.W746C missense 0.00029875●●●●●●
29. 78081415 c.752C>T p.S251L missense 0.00029837●●●●●●
30. 78087132 c.2156C>A p.A719E missense 0.00029399●●●●●●
31. 78090792 c.2215A>T p.T739S missense 0.00028181●●●●●●
32. 78092071 c.2561G>A p.R854Q missense 0.00027483●●●●●●
33. 78090784 c.2207G>A p.S736N missense 0.00025689●●●●●●
34. 78081653 c.913G>A p.G305R missense 0.00025482●●●●●●
35. 78084517 c.1438-9G>A splice site 0.00024886●●●●●●
36. 78081424 c.761C>T p.S254L missense 0.00021553●●●●●●
37. 78092070 c.2560C>T p.R854X nonsense 0.00021457●●●●●●
38. 78081504 c.841C>T p.R281W missense 0.00020925●●●●●●
39. 78079689 c.688G>A p.V230M missense 0.00020541●●●●●●
40. 78078417 c.32G>A p.R11Q missense 0.00018841●●●●●●
41. 78082409 c.1194+3G>C splice site 0.00018103●●●●●●
42. 78086721 c.1935C>A p.D645E missense 0.00017212●●●●●●
43. 78087027 c.2051C>T p.P684L missense 0.00017162●●●●●●
44. 78091448 c.2381G>A p.R794H missense 0.00015240●●●●●●
45. 78087108 c.2132C>G p.T711R missense 0.00014875●●●●●●
46. 78086445 c.1823G>A p.R608Q missense 0.00014783●●●●●●
47. 78078888 c.503G>A p.R168Q missense 0.00014778●●●●●●
48. 78078935 c.546+4G>C splice site 0.00014630●●●●●●
49. 78091471 c.2404G>A p.G802R missense 0.00014525●●●●●●
50. 78083763 c.1346C>T p.S449L missense 0.00014222●●●●●●
51. 78078662 c.277G>A p.A93T missense 0.00012065●●●●●●
52. 78078452 c.67A>G p.T23A missense 0.00011843●●●●●●
53. 78090852 c.2275G>A p.G759R missense 0.00011653●●●●●●
54. 78084737 c.1552-3C>G splice site 0.00011565●●●●●●
55. 78078504 c.119G>A p.R40Q missense 0.00010426●●●●●●
56. 78083862 c.1437+8G>A splice site 0.00010318●●●●●●
57. 78081601 c.861C>T splice site 0.00010318●●●●●●
58. 78086728 c.1942G>A p.G648S missense 0.00010179●●●●●●
59. 78087068 c.2092G>A p.A698T missense 0.00009989●●●●●●
60. 78082611 c.1310G>A p.R437H missense 0.00009464●●●●●●
61. 78081388 c.725C>T p.A242V missense 0.00009121●●●●●●
62. 78078516 c.131G>T p.G44V missense 0.00008844●●●●●●
63. 78078744 c.359C>G p.A120G missense 0.00008626●●●●●●
64. 78086495 c.1873G>A p.A625T missense 0.00008539●●●●●●
65. 78083828 c.1411G>A p.E471K missense 0.00008438●●●●●●
66. 78090900 c.2323C>A p.L775M missense 0.00008378●●●●●●
67. 78081611 c.871C>T p.L291F missense 0.00008324●●●●●●
68. 78079611 c.610G>A p.A204T missense 0.00008305●●●●●●
69. 78078635 c.250G>A p.V84I missense 0.00007918●●●●●●
70. 78078651 c.266G>A p.R89H missense 0.00007795●●●●●●
71. 78082314 c.1102G>A p.G368S missense 0.00007652●●●●●●
72. 78081602 c.862G>A p.G288S missense 0.00007488●●●●●●
73. 78082207 c.1074G>C splice site 0.00007479●●●●●●
74. 78092558 c.2753C>T p.S918F missense 0.00007443●●●●●●
75. 78092476 c.2671C>T p.R891C missense 0.00007425●●●●●●
76. 78078910 c.525delT frameshift 0.00007041●●●●●●
77. 78082499 c.1198G>A p.V400I missense 0.00006923●●●●●●
78. 78078704 c.319G>A p.G107S missense 0.00006892●●●●●●
79. 78078677 c.292A>T p.I98F missense 0.00006867●●●●●●
80. 78082335 c.1123C>T p.R375C missense 0.00006839●●●●●●
81. 78081520 c.857C>T p.T286M missense 0.00006735●●●●●●
82. 78087081 c.2105G>A p.R702H missense 0.00006695●●●●●●
83. 78079632 c.631G>A p.V211M missense 0.00006651●●●●●●
84. 78082533 c.1232G>A p.R411Q missense 0.00006647●●●●●●
85. 78090814 c.2237G>T p.W746L missense 0.00006641●●●●●●
86. 78082152 c.1019A>G p.Y340C missense 0.00006629●●●●●●
87. 78084592 c.1504A>G p.M502V missense 0.00006617●●●●●●
88. 78078930 c.545C>G p.T182R missense 0.00006274●●●●●●
89. 78082621 c.1320G>T p.M440I missense 0.00006192●●●●●●
90. 78092091 c.2581G>A p.D861N missense 0.00006087●●●●●●
91. 78086713 c.1927G>A p.G643R missense 0.00005884●●●●●●
92. 78081351 c.693-5C>T splice site 0.00005818●●●●●●
93. 78090814 c.2237G>C p.W746S missense 0.00005811●●●●●●
94. 78082181 c.1048G>A p.V350M missense 0.00005806●●●●●●
95. 78082589 c.1288G>A p.E430K missense 0.00005703●●●●●●
96. 78078934 c.546+3G>A splice site 0.00005487●●●●●●
97. 78087040 c.2064C>A p.S688R missense 0.00005478●●●●●●
98. 78078606 c.221G>A p.R74H missense 0.00005389●●●●●●
99. 78082607 c.1306C>T p.R436W missense 0.00005354●●●●●●
100. 78086800 c.2014C>T p.R672W missense 0.00005294●●●●●●
101. 78078917 c.532C>T p.R178C missense 0.00005287●●●●●●
102. 78078695 c.310G>C p.E104Q missense 0.00005166●●●●●●
103. 78078416 c.31C>T p.R11W missense 0.00005145●●●●●●
104. 78091456 c.2389G>A p.A797T missense 0.00005095●●●●●●
105. 78084818 c.1630G>A p.V544M missense 0.00005071●●●●●●
106. 78087098 c.2122C>T p.H708Y missense 0.00005050●●●●●●
107. 78079635 c.634G>A p.E212K missense 0.00004989●●●●●●
108. 78079615 c.614C>T p.P205L missense 0.00004985●●●●●●
109. 78079577 c.576G>C p.E192D missense 0.00004965●●●●●●
110. 78092563 c.2758G>A p.G920S missense 0.00004962●●●●●●
111. 78081693 c.953T>C p.M318T missense 0.00004836●●●●●●
112. 78086716 c.1930G>T p.A644S missense 0.00004672●●●●●●
113. 78081603 c.863G>A p.G288D missense 0.00004666●●●●●●
114. 78081665 c.925G>A p.G309R missense 0.00004609●●●●●●
115. 78086722 c.1936G>A p.V646I missense 0.00004571●●●●●●
116. 78078931 c.546G>A p.T182T splice site 0.00004501●●●●●●
117. 78078608 c.223C>T p.P75S missense 0.00004473●●●●●●
118. 78086478 c.1856G>A p.S619N missense 0.00004401●●●●●●
119. 78084833 c.1636+9G>A splice site 0.00004399●●●●●●
120. 78084832 c.1636+8C>T splice site 0.00004383●●●●●●
121. 78086370 c.1755-7A>G splice site 0.00004374●●●●●●
122. 78086394 c.1772G>A p.R591Q missense 0.00004331●●●●●●
123. 78082400 c.1188C>G p.F396L missense 0.00004308●●●●●●
124. 78082366 c.1154G>A p.R385H missense 0.00004305●●●●●●
125. 78087143 c.2167G>A p.V723M missense 0.00004280●●●●●●
126. 78082336 c.1124G>A p.R375H missense 0.00004280●●●●●●
127. 78078428 c.43G>A p.V15I missense 0.00004260●●●●●●
128. 78091459 c.2392A>G p.I798V missense 0.00004244●●●●●●
129. 78083804 c.1387C>T p.R463W missense 0.00004188●●●●●●
130. 78090897 c.2320G>A p.D774N missense 0.00004188●●●●●●
131. 78085784 c.1639G>A p.V547M missense 0.00004187●●●●●●
132. 78081458 c.795T>A p.S265R missense 0.00004153●●●●●●
133. 78081457 c.794G>A p.S265N missense 0.00004152●●●●●●
134. 78084526 c.1438G>A p.V480I missense 0.00004146●●●●●●
135. 78086518 c.1888+8C>T splice site 0.00004104●●●●●●
136. 78086515 c.1888+5G>T splice site 0.00004054●●●●●●
137. 78091522 c.2455C>T p.R819W missense 0.00004020●●●●●●
138. 78082617 c.1316T>A p.M439K missense 0.00003988●●●●●●
139. 78087132 c.2156C>T p.A719V missense 0.00003920●●●●●●
140. 78087131 c.2155G>A p.A719T missense 0.00003845●●●●●●
141. 78087026 c.2050C>T p.P684S missense 0.00003827●●●●●●
142. 78086504 c.1882G>C p.V628L missense 0.00003815●●●●●●
143. 78086449 c.1827delC frameshift 0.00003750●●●●●●
144. 78081650 c.910G>A p.G304S missense 0.00003635●●●●●●
145. 78092151 c.2641A>G p.R881G missense 0.00003627●●●●●●
146. 78082511 c.1210G>A p.D404N missense 0.00003576●●●●●●
147. 78078632 c.247G>A p.D83N missense 0.00003525●●●●●●
148. 78081514 c.851C>T p.A284V missense 0.00003515●●●●●●
149. 78082604 c.1303G>A p.G435S missense 0.00003450●●●●●●
150. 78087045 c.2069C>T p.P690L missense 0.00003444●●●●●●
151. 78091462 c.2395C>T p.H799Y missense 0.00003398●●●●●●
152. 78078440 c.55G>A p.V19M missense 0.00003391●●●●●●
153. 78087098 c.2122C>G p.H708D missense 0.00003367●●●●●●
154. 78087098 c.2122C>A p.H708N missense 0.00003367●●●●●●
155. 78090919 c.2331+11G>C splice site 0.00003362●●●●●●
156. 78092008 c.2498C>T p.T833I missense 0.00003352●●●●●●
157. 78083809 c.1392G>C p.R464S missense 0.00003350●●●●●●
158. 78083792 c.1375G>A p.D459N missense 0.00003346●●●●●●
159. 78081503 c.840C>G p.N280K missense 0.00003337●●●●●●
160. 78081352 c.693-4G>A splice site 0.00003325●●●●●●
161. 78090822 c.2245G>T p.A749S missense 0.00003320●●●●●●
162. 78090763 c.2190-4G>A splice site 0.00003313●●●●●●
163. 78079569 c.568C>T p.R190C missense 0.00003310●●●●●●
164. 78085888 c.1743C>G p.I581M missense 0.00003305●●●●●●
165. 78085889 c.1744G>A p.A582T missense 0.00003305●●●●●●
166. 78086744 c.1958C>A p.T653N missense 0.00003302●●●●●●
167. 78092477 c.2672G>A p.R891H missense 0.00003300●●●●●●
168. 78092445 c.2647-7G>A splice site 0.00003299●●●●●●
169. 78086765 c.1979G>A p.R660H missense 0.00003279●●●●●●
170. 78081700 c.955+5G>A splice site 0.00003224●●●●●●
171. 78086471 c.1849G>A p.V617M missense 0.00003164●●●●●●
172. 78091523 c.2456G>A p.R819Q missense 0.00003033●●●●●●
173. 0 c.-32-4G>A splice site 0.00002958●●●●●●
174. 78086444 c.1822C>T p.R608X nonsense 0.00002760●●●●●●
175. 78081662 c.922C>T p.H308Y missense 0.00002758●●●●●●
176. 78078582 c.197G>A p.R66Q missense 0.00002752●●●●●●
177. 78078936 c.546+5G>T splice site 0.00002743●●●●●●
178. 78078594 c.209C>A p.A70E missense 0.00002721●●●●●●
179. 78092119 c.2609G>A p.R870Q missense 0.00002669●●●●●●
180. 78078636 c.251_252insC p.Asn87GlnfsTer9 frameshift 0.00002653●●●●●●
181. 78078918 c.533G>A p.R178H missense 0.00002646●●●●●●
182. 78078845 c.460C>T p.R154C missense 0.00002587●●●●●●
183. 78078747 c.362A>G p.Q121R missense 0.00002586●●●●●●
184. 78091475 c.2408A>G p.Q803R missense 0.00002578●●●●●●
185. 78079687 c.686G>A p.R229H missense 0.00002565●●●●●●
186. 78087163 c.2187G>A splice site 0.00002550●●●●●●
187. 78086504 c.1882G>A p.V628M missense 0.00002543●●●●●●
188. 78083834 c.1417G>A p.G473S missense 0.00002542●●●●●●
189. 78078455 c.70G>A p.A24T missense 0.00002537●●●●●●
190. 78079671 c.670C>T p.R224W missense 0.00002530●●●●●●
191. 78090908 c.2331G>A p.T777T splice site 0.00002518●●●●●●
192. 78092019 c.2509C>T p.R837C missense 0.00002513●●●●●●
193. 78081505 c.842G>A p.R281Q missense 0.00002513●●●●●●
194. 78083795 c.1378G>A p.E460K missense 0.00002511●●●●●●
195. 78090884 c.2307G>C p.L769F missense 0.00002509●●●●●●
196. 78086695 c.1909C>A p.L637M missense 0.00002508●●●●●●
197. 78079659 c.658G>T p.V220L missense 0.00002499●●●●●●
198. 78081364 c.701C>T p.T234M missense 0.00002491●●●●●●
199. 78081367 c.704C>T p.T235M missense 0.00002490●●●●●●
200. 78084795 c.1607A>G p.N536S missense 0.00002490●●●●●●
201. 78081444 c.781G>A p.A261T missense 0.00002489●●●●●●
202. 78092596 c.2791G>A p.D931N missense 0.00002488●●●●●●
203. 78082154 c.1021A>G p.I341V missense 0.00002486●●●●●●
204. 78085814 c.1669A>G p.I557V missense 0.00002485●●●●●●
205. 78079594 c.593C>T p.P198L missense 0.00002484●●●●●●
206. 78082128 c.995C>T p.S332L missense 0.00002484●●●●●●
207. 78093128 c.2857T>C p.Ter953GlnextTer6 nonsense 0.00002482●●●●●●
208. 78092530 c.2725G>A p.V909M missense 0.00002478●●●●●●
209. 78092495 c.2690C>G p.A897G missense 0.00002476●●●●●●
210. 78082565 c.1264C>T p.R422W missense 0.00002414●●●●●●
211. 78082635 c.1326+8C>T splice site 0.00002369●●●●●●
212. 78086719 c.1933G>A p.D645N missense 0.00002312●●●●●●
213. 78087150 c.2174G>A p.R725Q missense 0.00002293●●●●●●
214. 78087149 c.2173C>T p.R725W missense 0.00002265●●●●●●
215. 78082625 c.1324G>A p.V442M missense 0.00002157●●●●●●
216. 78086834 c.2040+8_2040+9insGGGGTGGC splice site 0.00002151●●●●●●
217. 78081700 c.955+5G>C splice site 0.00002149●●●●●●
218. 78087013 c.2041-4G>T splice site 0.00002123●●●●●●
219. 78086810 c.2024A>C p.N675T missense 0.00002111●●●●●●
220. 78086801 c.2015G>A p.R672Q missense 0.00002108●●●●●●
221. 78086797 c.2011A>G p.M671V missense 0.00002107●●●●●●
222. 78086798 c.2012T>C p.M671T missense 0.00002106●●●●●●
223. 78086807 c.2021_2023delACA p.Asn675del inframe 0.00002105●●●●●●
224. 78087016 c.2041-1G>A essential splice site 0.00002072●●●●●●
225. 78086465 c.1843G>A p.G615R missense 0.00002056●●●●●●
226. 78082620 c.1319T>C p.M440T missense 0.00002054●●●●●●
227. 78091525 c.2458G>T p.A820S missense 0.00002035●●●●●●
228. 78086463 c.1841C>T p.T614M missense 0.00002011●●●●●●
229. 78086463 c.1841C>A p.T614K missense 0.00002011●●●●●●
230. 78087137 c.2161G>C p.E721Q missense 0.00002007●●●●●●
231. 0 c.-32-4G>T splice site 0.00001972●●●●●●
232. 0 c.-32-5C>T splice site 0.00001972●●●●●●
233. 78082530 c.1229C>T p.S410F missense 0.00001883●●●●●●
234. 78086450 c.1828G>A p.A610T missense 0.00001883●●●●●●
235. 78081599 c.859C>T p.P287S missense 0.00001878●●●●●●
236. 78086447 c.1825_1826insA p.Tyr609Ter frameshift 0.00001860●●●●●●
237. 78086447 c.1825T>C p.Y609H missense 0.00001860●●●●●●
238. 78082610 c.1309C>T p.R437C missense 0.00001857●●●●●●
239. 78078545 c.160C>A p.P54T missense 0.00001857●●●●●●
240. 78082523 c.1222A>G p.M408V missense 0.00001844●●●●●●
241. 78082521 c.1220A>G p.Y407C missense 0.00001832●●●●●●
242. 78078937 c.546+6C>T splice site 0.00001830●●●●●●
243. 78087040 c.2064C>G p.S688R missense 0.00001826●●●●●●
244. 78082608 c.1307G>A p.R436Q missense 0.00001826●●●●●●
245. 78078930 c.545C>T p.T182M missense 0.00001793●●●●●●
246. 78078633 c.248A>T p.D83V missense 0.00001761●●●●●●
247. 78081514 c.851C>G p.A284G missense 0.00001757●●●●●●
248. 78078396 c.11G>A p.R4K missense 0.00001748●●●●●●
249. 78086427 c.1805C>G p.T602S missense 0.00001746●●●●●●
250. 78086374 c.1755-3C>T splice site 0.00001744●●●●●●
251. 78086379 c.1757C>T p.A586V missense 0.00001741●●●●●●
252. 78078888 c.503G>T p.R168L missense 0.00001739●●●●●●
253. 78078887 c.502C>T p.R168W missense 0.00001738●●●●●●
254. 78078402 c.17C>T p.P6L missense 0.00001735●●●●●●
255. 78087042 c.2066A>G p.E689G missense 0.00001734●●●●●●
256. 78086418 c.1796C>A p.S599Y missense 0.00001733●●●●●●
257. 78082498 c.1197C>T splice site 0.00001732●●●●●●
258. 78078780 c.395G>C p.S132T missense 0.00001730●●●●●●
259. 78086403 c.1781G>C p.R594P missense 0.00001729●●●●●●
260. 78086403 c.1781G>A p.R594H missense 0.00001729●●●●●●
261. 78078865 c.480_481delCC p.Pro161GlnfsTer15 frameshift 0.00001729●●●●●●
262. 78078702 c.317G>A p.R106H missense 0.00001728●●●●●●
263. 78087113 c.2137T>C p.F713L missense 0.00001728●●●●●●
264. 78078656 c.271G>T p.D91Y missense 0.00001727●●●●●●
265. 78082402 c.1190C>T p.P397L missense 0.00001723●●●●●●
266. 78078790 c.405C>A p.S135R missense 0.00001723●●●●●●
267. 78082404 c.1192C>T p.L398L splice site 0.00001723●●●●●●
268. 78078797 c.412C>G p.L138V missense 0.00001722●●●●●●
269. 78078665 c.280C>A p.P94T missense 0.00001721●●●●●●
270. 78078805 c.420C>A p.N140K missense 0.00001720●●●●●●
271. 78078494 c.109C>G p.L37V missense 0.00001719●●●●●●
272. 78082377 c.1165G>A p.E389K missense 0.00001719●●●●●●
273. 78084822 c.1634C>T p.P545L missense 0.00001718●●●●●●
274. 78078683 c.298C>G p.Q100E missense 0.00001717●●●●●●
275. 78078713 c.328T>C p.Y110H missense 0.00001716●●●●●●
276. 78083860 c.1437+6G>A splice site 0.00001716●●●●●●
277. 78078420 c.35T>C p.L12P missense 0.00001710●●●●●●
278. 78079686 c.685C>T p.R229C missense 0.00001709●●●●●●
279. 78078485 c.100G>T p.D34Y missense 0.00001706●●●●●●
280. 78078434 c.49G>A p.A17T missense 0.00001700●●●●●●
281. 78078435 c.50C>T p.A17V missense 0.00001699●●●●●●
282. 78085771 c.1637-11G>A splice site 0.00001694●●●●●●
283. 78091439 c.2372C>T p.A791V missense 0.00001690●●●●●●
284. 78087054 c.2078A>G p.Q693R missense 0.00001690●●●●●●
285. 78079672 c.671G>A p.R224Q missense 0.00001688●●●●●●
286. 78083828 c.1411_1414delGAGA frameshift 0.00001688●●●●●●
287. 78087086 c.2110G>A p.A704T missense 0.00001680●●●●●●
288. 78090907 c.2330C>T p.T777M missense 0.00001678●●●●●●
289. 78092062 c.2552G>A p.G851E missense 0.00001677●●●●●●
290. 78092020 c.2510G>A p.R837H missense 0.00001675●●●●●●
291. 78083774 c.1357G>A p.G453R missense 0.00001672●●●●●●
292. 78085788 c.1643T>G p.V548G missense 0.00001672●●●●●●
293. 78090874 c.2297A>G p.Y766C missense 0.00001670●●●●●●
294. 78079656 c.655G>A p.G219R missense 0.00001666●●●●●●
295. 78090861 c.2284G>A p.E762K missense 0.00001666●●●●●●
296. 78081484 c.821C>T p.T274I missense 0.00001665●●●●●●
297. 78085800 c.1655T>C p.L552P missense 0.00001663●●●●●●
298. 78082202 c.1069G>A p.V357I missense 0.00001661●●●●●●
299. 78079608 c.607C>T p.R203W missense 0.00001661●●●●●●
300. 78090813 c.2236_2237insG p.Glu748GlyfsTer48 frameshift 0.00001660●●●●●●
301. 78085806 c.1661C>T p.A554V missense 0.00001660●●●●●●
302. 78081369 c.706G>T p.V236L missense 0.00001660●●●●●●
303. 78081447 c.784G>A p.E262K missense 0.00001660●●●●●●
304. 78081373 c.710C>T p.A237V missense 0.00001659●●●●●●
305. 78084517 c.1438-9_1438-7delGTT splice site 0.00001659●●●●●●
306. 78084525 c.1438-1G>T essential splice site 0.00001659●●●●●●
307. 78084535 c.1447G>A p.G483R missense 0.00001658●●●●●●
308. 78081432 c.769A>G p.I257V missense 0.00001658●●●●●●
309. 78090798 c.2221G>A p.D741N missense 0.00001658●●●●●●
310. 78090792 c.2215A>G p.T739A missense 0.00001658●●●●●●
311. 78081388 c.725C>A p.A242E missense 0.00001658●●●●●●
312. 78084628 c.1540G>A p.G514S missense 0.00001655●●●●●●
313. 78084553 c.1465G>A p.D489N missense 0.00001655●●●●●●
314. 78084625 c.1537G>A p.D513N missense 0.00001655●●●●●●
315. 78093083 c.2812_2813delTG p.Val939LeufsTer78 frameshift 0.00001653●●●●●●
316. 78085850 c.1705T>C p.Y569H missense 0.00001652●●●●●●
317. 78085870 c.1725C>A p.Y575X nonsense 0.00001652●●●●●●
318. 78092467 c.2662G>T p.E888X nonsense 0.00001650●●●●●●
319. 78082599 c.1298A>G p.Q433R missense 0.00001611●●●●●●
320. 78086515 c.1888+5G>A splice site 0.00001351●●●●●●
321. 78086511 c.1888+1G>A essential splice site 0.00001317●●●●●●
322. 78086509 c.1887A>C splice site 0.00001303●●●●●●
323. 78086508 c.1886C>T p.P629L missense 0.00001302●●●●●●
324. 78082575 c.1274C>T p.P425L missense 0.00001279●●●●●●
325. 78082575 c.1274C>A p.P425Q missense 0.00001279●●●●●●
326. 78086698 c.1912G>T p.G638W missense 0.00001233●●●●●●
327. 78091555 c.2481+7G>A splice site 0.00001169●●●●●●
328. 78086714 c.1928_1929insGGCCGAC p.Val646GlyfsTer93 frameshift 0.00001169●●●●●●
329. 78086717 c.1931C>T p.A644V missense 0.00001166●●●●●●
330. 78086719 c.1933G>C p.D645H missense 0.00001156●●●●●●
331. 78086727 c.1941C>G p.C647W missense 0.00001136●●●●●●
332. 78086743 c.1957A>G p.T653A missense 0.00001104●●●●●●
333. 78086749 c.1963_1965delGAG p.Glu655del inframe 0.00001096●●●●●●
334. 78086764 c.1978C>T p.R660C missense 0.00001089●●●●●●
335. 78086834 c.2040+8G>A splice site 0.00001075●●●●●●
336. 78086792 c.2006C>G p.P669R missense 0.00001056●●●●●●
337. 78091534 c.2467A>C p.I823L missense 0.00001049●●●●●●
338. 78086457 c.1835A>G p.H612R missense 0.00000964●●●●●●
339. 78078356 c.-30C>T splice site 0.00000963●●●●●●
340. 78082532 c.1231C>T p.R411W missense 0.00000946●●●●●●
341. 78081592 c.859-7G>A splice site 0.00000944●●●●●●
342. 78081595 c.859-4C>A splice site 0.00000942●●●●●●
343. 78081603 c.863_864insT p.Ala289CysfsTer41 frameshift 0.00000933●●●●●●
344. 78081669 c.929T>G p.V310G missense 0.00000932●●●●●●
345. 78081606 c.866C>T p.A289V missense 0.00000932●●●●●●
346. 78081517 c.854C>T p.P285L missense 0.00000932●●●●●●
347. 78081674 c.934C>A p.L312M missense 0.00000929●●●●●●
348. 78078551 c.166C>T p.H56Y missense 0.00000928●●●●●●
349. 78078543 c.158A>G p.H53R missense 0.00000926●●●●●●
350. 78078542 c.157C>A p.H53N missense 0.00000924●●●●●●
351. 78082523 c.1222A>T p.M408L missense 0.00000922●●●●●●
352. 78081664 c.924C>A p.H308Q missense 0.00000921●●●●●●
353. 78078561 c.176G>A p.G59E missense 0.00000921●●●●●●
354. 78081617 c.877G>A p.G293R missense 0.00000921●●●●●●
355. 78081623 c.883C>A p.H295N missense 0.00000914●●●●●●
356. 78078936 c.546+5G>A splice site 0.00000914●●●●●●
357. 78092164 c.2646+8C>A splice site 0.00000912●●●●●●
358. 78078590 c.205C>T p.Q69X nonsense 0.00000909●●●●●●
359. 78078590 c.205C>G p.Q69E missense 0.00000909●●●●●●
360. 78078591 c.206A>G p.Q69R missense 0.00000907●●●●●●
361. 78078598 c.213C>A p.H71Q missense 0.00000905●●●●●●
362. 78091499 c.2432delT frameshift 0.00000904●●●●●●
363. 78078601 c.216_217insG p.Arg74ProfsTer22 frameshift 0.00000904●●●●●●
364. 78092145 c.2635C>G p.L879V missense 0.00000903●●●●●●
365. 78078933 c.546+2_546+3insGGGCA splice site 0.00000903●●●●●●
366. 78091496 c.2429C>T p.P810L missense 0.00000902●●●●●●
367. 78091495 c.2428C>T p.P810S missense 0.00000902●●●●●●
368. 78078602 c.217G>A p.G73S missense 0.00000901●●●●●●
369. 78078932 c.546+1_546+2insTGGGC essential splice site 0.00000900●●●●●●
370. 78078606 c.221G>C p.R74P missense 0.00000898●●●●●●
371. 78091490 c.2423C>T p.P808L missense 0.00000891●●●●●●
372. 78078614 c.229G>C p.A77P missense 0.00000891●●●●●●
373. 78078926 c.541T>C p.F181L missense 0.00000890●●●●●●
374. 78092118 c.2608C>T p.R870X nonsense 0.00000889●●●●●●
375. 78078924 c.539A>G p.H180R missense 0.00000888●●●●●●
376. 78078620 c.235C>T p.P79S missense 0.00000887●●●●●●
377. 78078909 c.524_525insT p.Glu176Ter frameshift 0.00000880●●●●●●
378. 78078910 c.525_526delTG frameshift 0.00000880●●●●●●
379. 78091483 c.2416A>C p.T806P missense 0.00000878●●●●●●
380. 78078907 c.522G>T p.E174D missense 0.00000877●●●●●●
381. 78086369 c.1755-8C>G splice site 0.00000875●●●●●●
382. 78078644 c.259A>C p.N87H missense 0.00000871●●●●●●
383. 78078503 c.118C>T p.R40X nonsense 0.00000868●●●●●●
384. 78086384 c.1762G>A p.V588M missense 0.00000868●●●●●●
385. 78086421 c.1799G>A p.R600H missense 0.00000868●●●●●●
386. 78086420 c.1798C>T p.R600C missense 0.00000867●●●●●●
387. 78092087 c.2577G>A p.W859X nonsense 0.00000867●●●●●●
388. 78082499 c.1198delG p.Val400SerfsTer40 frameshift 0.00000866●●●●●●
389. 78086393 c.1771C>T p.R591W missense 0.00000866●●●●●●
390. 78078653 c.268T>C p.F90L missense 0.00000865●●●●●●
391. 78078873 c.488A>T p.D163V missense 0.00000865●●●●●●
392. 78086397 c.1775G>A p.G592E missense 0.00000865●●●●●●
393. 78086400 c.1778C>T p.T593I missense 0.00000864●●●●●●
394. 78086406 c.1784C>T p.P595L missense 0.00000864●●●●●●
395. 78078500 c.115C>T p.P39S missense 0.00000864●●●●●●
396. 78078746 c.361C>T p.Q121X nonsense 0.00000863●●●●●●
397. 78078785 c.400C>T p.P134S missense 0.00000863●●●●●●
398. 78078699 c.314C>A p.A105D missense 0.00000863●●●●●●
399. 78082415 c.1194+9G>A splice site 0.00000863●●●●●●
400. 78078699 c.314C>T p.A105V missense 0.00000863●●●●●●
401. 78082402 c.1190C>G p.P397R missense 0.00000862●●●●●●
402. 78078846 c.461G>A p.R154H missense 0.00000862●●●●●●
403. 78078750 c.365T>G p.M122R missense 0.00000862●●●●●●
404. 78082404 c.1192C>A p.L398M missense 0.00000862●●●●●●
405. 78078773 c.388C>T p.P130S missense 0.00000862●●●●●●
406. 78078408 c.23G>A p.C8Y missense 0.00000862●●●●●●
407. 78078695 c.310G>A p.E104K missense 0.00000861●●●●●●
408. 78082396 c.1184A>T p.H395L missense 0.00000861●●●●●●
409. 78082398 c.1186T>G p.F396V missense 0.00000861●●●●●●
410. 78078831 c.446C>T p.T149M missense 0.00000860●●●●●●
411. 78078810 c.425G>A p.S142N missense 0.00000860●●●●●●
412. 78079698 c.692+5G>T splice site 0.00000860●●●●●●
413. 78082365 c.1153C>T p.R385C missense 0.00000860●●●●●●
414. 78082384 c.1172T>C p.M391T missense 0.00000860●●●●●●
415. 78082374 c.1162G>A p.V388M missense 0.00000859●●●●●●
416. 78078671 c.286A>G p.K96E missense 0.00000859●●●●●●
417. 78078811 c.426C>A p.S142R missense 0.00000859●●●●●●
418. 78082383 c.1171A>G p.M391V missense 0.00000859●●●●●●
419. 78082370 c.1158_1160delGGT p.Val388del inframe 0.00000859●●●●●●
420. 78078820 c.435A>T p.E145D missense 0.00000859●●●●●●
421. 78083861 c.1437+7C>G splice site 0.00000859●●●●●●
422. 78082354 c.1142delC p.Ala382LeufsTer10 frameshift 0.00000858●●●●●●
423. 78079694 c.692+1G>C essential splice site 0.00000858●●●●●●
424. 78082336 c.1124G>T p.R375L missense 0.00000856●●●●●●
425. 78082341 c.1129G>C p.G377R missense 0.00000856●●●●●●
426. 78078417 c.32G>T p.R11L missense 0.00000856●●●●●●
427. 78082339 c.1127delG p.Gly377AlafsTer15 frameshift 0.00000855●●●●●●
428. 78078419 c.34C>T p.L12F missense 0.00000855●●●●●●
429. 78078420 c.35_38delTCCT p.Leu12ArgfsTer30 frameshift 0.00000855●●●●●●
430. 78091472 c.2405_2423delGGCAGTGGGTGACGCTGCC p.Gln803ProfsTer39 frameshift 0.00000854●●●●●●
431. 78091468 c.2401G>A p.E801K missense 0.00000853●●●●●●
432. 78079683 c.682G>A p.G228S missense 0.00000853●●●●●●
433. 78078428 c.43_44insT p.Cys16LeufsTer19 frameshift 0.00000852●●●●●●
434. 78078483 c.98A>G p.H33R missense 0.00000852●●●●●●
435. 78083849 c.1432G>A p.G478R missense 0.00000852●●●●●●
436. 78078432 c.47G>C p.C16S missense 0.00000851●●●●●●
437. 78081513 c.850G>A p.A284T missense 0.00000850●●●●●●
438. 78079678 c.677T>C p.L226P missense 0.00000849●●●●●●
439. 78083841 c.1424C>T p.P475L missense 0.00000849●●●●●●
440. 78082308 c.1096T>C p.Y366H missense 0.00000849●●●●●●
441. 78082300 c.1088T>G p.M363R missense 0.00000848●●●●●●
442. 78082305 c.1093C>T p.P365S missense 0.00000848●●●●●●
443. 78078444 c.59C>T p.S20F missense 0.00000847●●●●●●
444. 78082294 c.1082C>T p.P361L missense 0.00000847●●●●●●
445. 78078464 c.79C>G p.L27V missense 0.00000846●●●●●●
446. 78078450 c.65C>T p.A22V missense 0.00000846●●●●●●
447. 78078461 c.76C>T p.L26F missense 0.00000846●●●●●●
448. 78078459 c.74C>T p.A25V missense 0.00000846●●●●●●
449. 78091438 c.2371G>T p.A791S missense 0.00000845●●●●●●
450. 78083826 c.1409A>C p.N470T missense 0.00000843●●●●●●
451. 78091433 c.2366C>G p.P789R missense 0.00000842●●●●●●
452. 78091432 c.2365C>G p.P789A missense 0.00000842●●●●●●
453. 78091425 c.2358delC p.Pro787HisfsTer19 frameshift 0.00000841●●●●●●
454. 78085778 c.1637-4C>T splice site 0.00000841●●●●●●
455. 78091989 c.2482-3_2482-2insA splice site 0.00000840●●●●●●
456. 78091990 c.2482-2A>G essential splice site 0.00000840●●●●●●
457. 78092062 c.2552G>T p.G851V missense 0.00000839●●●●●●
458. 78083813 c.1396G>A p.V466I missense 0.00000839●●●●●●
459. 78084812 c.1624C>T p.P542S missense 0.00000839●●●●●●
460. 78092062 c.2552G>C p.G851A missense 0.00000839●●●●●●
461. 78090909 c.2331+1G>C essential splice site 0.00000839●●●●●●
462. 78091996 c.2486C>T p.P829L missense 0.00000839●●●●●●
463. 78091399 c.2332G>C p.V778L missense 0.00000838●●●●●●
464. 78083808 c.1391G>A p.R464K missense 0.00000838●●●●●●
465. 78092038 c.2528T>C p.L843P missense 0.00000838●●●●●●
466. 78092041 c.2531C>A p.A844D missense 0.00000838●●●●●●
467. 78092015 c.2505G>C p.E835D missense 0.00000838●●●●●●
468. 78090904 c.2327_2328insGACGGT p.Gln776_Thr777insThrVal inframe 0.00000838●●●●●●
469. 78091414 c.2347C>T p.L783F missense 0.00000838●●●●●●
470. 78092022 c.2512C>T p.Q838X nonsense 0.00000837●●●●●●
471. 78083794 c.1377C>G p.D459E missense 0.00000837●●●●●●
472. 78083771 c.1354G>T p.A452S missense 0.00000836●●●●●●
473. 78085789 c.1644_1645insG p.Thr551AspfsTer85 frameshift 0.00000835●●●●●●
474. 78083747 c.1330C>T p.P444S missense 0.00000835●●●●●●
475. 78090874 c.2297A>C p.Y766S missense 0.00000835●●●●●●
476. 78083753 c.1336A>C p.I446L missense 0.00000835●●●●●●
477. 78083753 c.1336A>G p.I446V missense 0.00000835●●●●●●
478. 78085790 c.1645G>T p.G549W missense 0.00000835●●●●●●
479. 78083737 c.1327-7T>G splice site 0.00000834●●●●●●
480. 78090859 c.2282C>G p.A761G missense 0.00000833●●●●●●
481. 78079654 c.653T>C p.F218S missense 0.00000833●●●●●●
482. 78085799 c.1654C>A p.L552I missense 0.00000832●●●●●●
483. 78091405 c.2338G>T p.V780L missense 0.00000832●●●●●●
484. 78092608 c.2799+4A>G splice site 0.00000832●●●●●●
485. 78079644 c.643G>A p.E215K missense 0.00000832●●●●●●
486. 78081481 c.818G>A p.W273X nonsense 0.00000832●●●●●●
487. 78085803 c.1658A>G p.Q553R missense 0.00000831●●●●●●
488. 78090835 c.2258C>A p.T753N missense 0.00000831●●●●●●
489. 78084798 c.1610delA p.Glu537GlyfsTer41 frameshift 0.00000831●●●●●●
490. 78079618 c.617C>G p.S206C missense 0.00000831●●●●●●
491. 78081451 c.788A>G p.H263R missense 0.00000830●●●●●●
492. 78082197 c.1064T>C p.L355P missense 0.00000830●●●●●●
493. 78081363 c.700A>G p.T234A missense 0.00000830●●●●●●
494. 78082191 c.1058A>G p.Q353R missense 0.00000830●●●●●●
495. 78090815 c.2238G>A p.W746X nonsense 0.00000830●●●●●●
496. 78079600 c.599T>A p.V200D missense 0.00000830●●●●●●
497. 78090814 c.2237G>A p.W746X nonsense 0.00000830●●●●●●
498. 78090816 c.2239G>C p.G747R missense 0.00000830●●●●●●
499. 78081366 c.703A>G p.T235A missense 0.00000830●●●●●●
500. 78079609 c.608G>A p.R203Q missense 0.00000830●●●●●●
501. 78082176 c.1043A>G p.K348R missense 0.00000829●●●●●●
502. 78090795 c.2218G>A p.V740M missense 0.00000829●●●●●●
503. 78081399 c.736C>T p.L246F missense 0.00000829●●●●●●
504. 78090800 c.2223C>G p.D741E missense 0.00000829●●●●●●
505. 78084529 c.1441T>C p.W481R missense 0.00000829●●●●●●
506. 78081430 c.767A>G p.Y256C missense 0.00000829●●●●●●
507. 78079550 c.549C>G p.I183M missense 0.00000828●●●●●●
508. 78079570 c.569G>A p.R190H missense 0.00000828●●●●●●
509. 78084550 c.1462C>G p.P488A missense 0.00000828●●●●●●
510. 78079572 c.571T>A p.Y191N missense 0.00000828●●●●●●
511. 78090771 c.2194C>A p.P732T missense 0.00000828●●●●●●
512. 78079561 c.560C>G p.A187G missense 0.00000828●●●●●●
513. 78082104 c.971C>A p.P324Q missense 0.00000828●●●●●●
514. 78082140 c.1007T>A p.I336N missense 0.00000828●●●●●●
515. 78090775 c.2198A>G p.K733R missense 0.00000828●●●●●●
516. 78085824 c.1679C>T p.S560F missense 0.00000828●●●●●●
517. 78082104 c.971C>T p.P324L missense 0.00000828●●●●●●
518. 78082104 c.971C>G p.P324R missense 0.00000828●●●●●●
519. 78079591 c.590C>A p.T197N missense 0.00000828●●●●●●
520. 78082136 c.1003G>A p.G335R missense 0.00000828●●●●●●
521. 78079570 c.569G>T p.R190L missense 0.00000828●●●●●●
522. 78082112 c.979G>A p.A327T missense 0.00000828●●●●●●
523. 78093116 c.2845G>A p.V949I missense 0.00000827●●●●●●
524. 78084640 c.1551+1G>T essential splice site 0.00000827●●●●●●
525. 78093113 c.2842C>T p.L948F missense 0.00000827●●●●●●
526. 78085899 c.1754G>A p.R585K missense 0.00000827●●●●●●
527. 78084624 c.1536C>A p.F512L missense 0.00000827●●●●●●
528. 78084637 c.1549A>G p.I517V missense 0.00000827●●●●●●
529. 78093120 c.2849G>A p.S950N missense 0.00000827●●●●●●
530. 78092558 c.2753C>G p.S918C missense 0.00000827●●●●●●
531. 78084584 c.1496G>A p.W499X nonsense 0.00000827●●●●●●
532. 78093099 c.2828T>C p.M943T missense 0.00000827●●●●●●
533. 78092540 c.2735C>T p.A912V missense 0.00000826●●●●●●
534. 78093063 c.2800-8_2800-7delTT splice site 0.00000826●●●●●●
535. 78093074 c.2803C>G p.L935V missense 0.00000826●●●●●●
536. 78085861 c.1716C>A p.H572Q missense 0.00000826●●●●●●
537. 78093080 c.2809A>G p.I937V missense 0.00000826●●●●●●
538. 78092506 c.2701C>A p.L901M missense 0.00000826●●●●●●
539. 78085886 c.1741A>C p.I581L missense 0.00000826●●●●●●
540. 78093062 c.2800-9C>T splice site 0.00000826●●●●●●
541. 78084749 c.1561G>A p.E521K missense 0.00000826●●●●●●
542. 78092541 c.2736_2737insC p.Gln914ProfsTer104 frameshift 0.00000826●●●●●●
543. 78092479 c.2674G>A p.V892M missense 0.00000825●●●●●●
544. 78092441 c.2647-11_2647-7delGCTCG splice site 0.00000825●●●●●●
545. 78092461 c.2656G>A p.V886M missense 0.00000825●●●●●●
546. 78092446 c.2647-6G>T splice site 0.00000825●●●●●●
547. 78092456 c.2651C>T p.T884M missense 0.00000825●●●●●●

* 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.