GAA missense variants in ExAC

GAA gene summary
GAA variants in

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