PDIA2 missense variants in ExAC

PDIA2 gene summary
PDIA2 variants in

The table below lists the PDIA2 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. 336396 c.1163G>A p.R388Q missense 0.17317556●●●●●●
2. 336916 c.1504C>T p.P502S missense 0.15560108●●●●●●
3. 334890 c.553G>A p.E185K missense 0.14873583●●●●●●
4. 334543 c.356C>G p.T119R missense 0.10430018●●●●●●
5. 335373 c.857C>T p.T286M missense 0.09592040●●●●●●
6. 336377 c.1144C>G p.P382A missense 0.02722527●●●●●●
7. 335531 c.947C>T p.A316V missense 0.01911735●●●●●●
8. 334464 c.277A>G p.M93V missense 0.01053837●●●●●●
9. 334899 c.562G>A p.A188T missense 0.00723967●●●●●●
10. 335639 c.1055G>T p.G352V missense 0.00722548●●●●●●
11. 333284 c.115C>T p.P39S missense 0.00548669●●●●●●
12. 336731 c.1418G>A p.R473Q missense 0.00521129●●●●●●
13. 336854 c.1442C>G p.T481S missense 0.00488684●●●●●●
14. 334531 c.344C>T p.T115M missense 0.00471295●●●●●●
15. 336716 c.1403C>T p.P468L missense 0.00427044●●●●●●
16. 335530 c.946G>T p.A316S missense 0.00288238●●●●●●
17. 336691 c.1378G>A p.G460S missense 0.00246651●●●●●●
18. 336438 c.1205C>T p.A402V missense 0.00236895●●●●●●
19. 334957 c.620G>A p.R207Q missense 0.00155381●●●●●●
20. 334534 c.347A>G p.E116G missense 0.00140013●●●●●●
21. 336860 c.1448A>T p.D483V missense 0.00139253●●●●●●
22. 334685 c.433G>A p.E145K missense 0.00137181●●●●●●
23. 336898 c.1486G>A p.V496M missense 0.00112367●●●●●●
24. 333176 c.7C>T p.R3C missense 0.00094572●●●●●●
25. 334763 c.511C>T p.R171W missense 0.00094357●●●●●●
26. 334701 c.449G>A p.R150Q missense 0.00076951●●●●●●
27. 333246 c.77C>T p.A26V missense 0.00066829●●●●●●
28. 336446 c.1213G>A p.E405K missense 0.00063622●●●●●●
29. 333177 c.8G>A p.R3H missense 0.00059988●●●●●●
30. 334665 c.413G>A p.R138Q missense 0.00047858●●●●●●
31. 335430 c.914G>A p.R305Q missense 0.00042333●●●●●●
32. 334575 c.388C>T p.H130Y missense 0.00041428●●●●●●
33. 336872 c.1460T>C p.F487S missense 0.00037567●●●●●●
34. 334721 c.469C>T p.R157W missense 0.00033781●●●●●●
35. 334709 c.457C>G p.P153A missense 0.00031467●●●●●●
36. 336892 c.1480G>A p.G494R missense 0.00029438●●●●●●
37. 334722 c.470G>A p.R157Q missense 0.00027452●●●●●●
38. 336628 c.1315G>A p.E439K missense 0.00019277●●●●●●
39. 334926 c.589G>A p.A197T missense 0.00018416●●●●●●
40. 334462 c.275C>T p.S92L missense 0.00016961●●●●●●
41. 335122 c.717G>C p.E239D missense 0.00016798●●●●●●
42. 336413 c.1180G>A p.V394M missense 0.00016749●●●●●●
43. 334700 c.448C>T p.R150W missense 0.00016602●●●●●●
44. 336944 c.1532C>T p.P511L missense 0.00016109●●●●●●
45. 334557 c.370C>T p.R124C missense 0.00015636●●●●●●
46. 336730 c.1417C>T p.R473W missense 0.00014589●●●●●●
47. 336560 c.1247C>A p.P416Q missense 0.00014258●●●●●●
48. 336559 c.1246C>G p.P416A missense 0.00014255●●●●●●
49. 336908 c.1496C>T p.T499M missense 0.00013969●●●●●●
50. 335614 c.1030A>C p.T344P missense 0.00013384●●●●●●
51. 337076 c.1541C>T p.P514L missense 0.00012623●●●●●●
52. 334935 c.598A>G p.M200V missense 0.00012545●●●●●●
53. 334757 c.505G>A p.G169S missense 0.00012291●●●●●●
54. 335654 c.1070C>T p.A357V missense 0.00011787●●●●●●
55. 336659 c.1346C>T p.T449M missense 0.00011734●●●●●●
56. 335536 c.952G>A p.D318N missense 0.00011722●●●●●●
57. 336445 c.1212C>G p.D404E missense 0.00011720●●●●●●
58. 335593 c.1009C>T p.R337C missense 0.00011706●●●●●●
59. 334791 c.539A>G p.Q180R missense 0.00011338●●●●●●
60. 335012 c.675G>C p.K225N missense 0.00010860●●●●●●
61. 336920 c.1508C>T p.P503L missense 0.00010815●●●●●●
62. 334569 c.382C>T p.R128C missense 0.00010121●●●●●●
63. 336682 c.1369G>A p.A457T missense 0.00010114●●●●●●
64. 335151 c.746G>A p.R249H missense 0.00010078●●●●●●
65. 336859 c.1447G>T p.D483Y missense 0.00010022●●●●●●
66. 334999 c.662T>A p.V221E missense 0.00010021●●●●●●
67. 334393 c.206C>T p.P69L missense 0.00009810●●●●●●
68. 334506 c.319G>A p.E107K missense 0.00009556●●●●●●
69. 335330 c.814G>A p.A272T missense 0.00009230●●●●●●
70. 334446 c.259G>A p.V87M missense 0.00009148●●●●●●
71. 334474 c.287C>T p.T96M missense 0.00008820●●●●●●
72. 335423 c.907C>T p.R303C missense 0.00008762●●●●●●
73. 334593 c.406G>A p.G136R missense 0.00008587●●●●●●
74. 335313 c.797C>T p.T266M missense 0.00008392●●●●●●
75. 335548 c.964G>C p.V322L missense 0.00008368●●●●●●
76. 334664 c.412C>T p.R138W missense 0.00008300●●●●●●
77. 334453 c.266C>T p.A89V missense 0.00008286●●●●●●
78. 335692 c.1108G>T p.G370C missense 0.00008096●●●●●●
79. 333338 c.169C>T p.R57W missense 0.00007957●●●●●●
80. 335388 c.872G>A p.R291Q missense 0.00007664●●●●●●
81. 335387 c.871C>T p.R291W missense 0.00007657●●●●●●
82. 335577 c.993G>C p.E331D missense 0.00007527●●●●●●
83. 334959 c.622C>T p.P208S missense 0.00007517●●●●●●
84. 334579 c.392C>T p.P131L missense 0.00007387●●●●●●
85. 334670 c.418G>A p.A140T missense 0.00007202●●●●●●
86. 334742 c.490G>A p.A164T missense 0.00007200●●●●●●
87. 336860 c.1448A>C p.D483A missense 0.00007013●●●●●●
88. 334698 c.446G>A p.R149Q missense 0.00006869●●●●●●
89. 335368 c.852C>G p.N284K missense 0.00006743●●●●●●
90. 335117 c.712G>A p.E238K missense 0.00006720●●●●●●
91. 335151 c.746G>T p.R249L missense 0.00006719●●●●●●
92. 335106 c.701T>A p.F234Y missense 0.00006717●●●●●●
93. 336629 c.1316A>C p.E439A missense 0.00006705●●●●●●
94. 336462 c.1229T>G p.F410C missense 0.00006697●●●●●●
95. 334503 c.316C>T p.R106C missense 0.00006578●●●●●●
96. 334558 c.371G>A p.R124H missense 0.00006434●●●●●●
97. 333292 c.123G>C p.E41D missense 0.00006066●●●●●●
98. 335150 c.745C>T p.R249C missense 0.00005878●●●●●●
99. 334716 c.464C>T p.A155V missense 0.00005739●●●●●●
100. 334590 c.403A>C p.T135P missense 0.00005694●●●●●●
101. 334749 c.497C>T p.A166V missense 0.00005639●●●●●●
102. 334697 c.445C>T p.R149W missense 0.00005393●●●●●●
103. 333339 c.170G>A p.R57Q missense 0.00005304●●●●●●
104. 333258 c.89C>T p.S30L missense 0.00005293●●●●●●
105. 335414 c.898G>A p.A300T missense 0.00005204●●●●●●
106. 334889 c.552C>A p.D184E missense 0.00005092●●●●●●
107. 334896 c.559G>A p.V187M missense 0.00005051●●●●●●
108. 335567 c.983T>A p.L328H missense 0.00005018●●●●●●
109. 335563 c.979G>C p.G327R missense 0.00005017●●●●●●
110. 334962 c.625C>T p.R209W missense 0.00005011●●●●●●
111. 334960 c.623C>T p.P208L missense 0.00005011●●●●●●
112. 334676 c.424G>A p.G142S missense 0.00004853●●●●●●
113. 334543 c.356C>T p.T119M missense 0.00004644●●●●●●
114. 335686 c.1102C>G p.L368V missense 0.00004400●●●●●●
115. 335426 c.910T>C p.F304L missense 0.00004385●●●●●●
116. 334737 c.485C>T p.A162V missense 0.00004366●●●●●●
117. 334733 c.481G>A p.E161K missense 0.00004325●●●●●●
118. 336938 c.1526C>T p.P509L missense 0.00004313●●●●●●
119. 335382 c.866C>T p.A289V missense 0.00004245●●●●●●
120. 336646 c.1333G>C p.E445Q missense 0.00004190●●●●●●
121. 335548 c.964G>A p.V322M missense 0.00004184●●●●●●
122. 336866 c.1454A>G p.E485G missense 0.00004032●●●●●●
123. 334695 c.443G>A p.R148Q missense 0.00004019●●●●●●
124. 334764 c.512G>A p.R171Q missense 0.00003963●●●●●●
125. 334772 c.520G>A p.V174M missense 0.00003751●●●●●●
126. 334555 c.368T>C p.F123S missense 0.00003679●●●●●●
127. 334561 c.374A>G p.N125S missense 0.00003664●●●●●●
128. 335436 c.920A>G p.Q307R missense 0.00003518●●●●●●
129. 335174 c.769C>T p.R257C missense 0.00003361●●●●●●
130. 335111 c.706G>A p.V236M missense 0.00003360●●●●●●
131. 335184 c.779C>T p.T260M missense 0.00003359●●●●●●
132. 335096 c.691C>T p.R231W missense 0.00003358●●●●●●
133. 335515 c.931G>A p.V311M missense 0.00003355●●●●●●
134. 335084 c.679T>C p.F227L missense 0.00003354●●●●●●
135. 335599 c.1015G>A p.V339I missense 0.00003345●●●●●●
136. 334956 c.619C>T p.R207W missense 0.00003341●●●●●●
137. 336925 c.1513G>A p.E505K missense 0.00003225●●●●●●
138. 334593 c.406G>C p.G136R missense 0.00002862●●●●●●
139. 334573 c.386C>T p.T129M missense 0.00002761●●●●●●
140. 334480 c.293C>T p.A98V missense 0.00002697●●●●●●
141. 333249 c.80G>A p.R27K missense 0.00002678●●●●●●
142. 333290 c.121G>A p.E41K missense 0.00002599●●●●●●
143. 335400 c.884C>T p.A295V missense 0.00002570●●●●●●
144. 336728 c.1415G>A p.G472D missense 0.00002569●●●●●●
145. 336356 c.1123T>C p.Y375H missense 0.00002536●●●●●●
146. 336357 c.1124A>G p.Y375C missense 0.00002535●●●●●●
147. 335653 c.1069G>C p.A357P missense 0.00002524●●●●●●
148. 336667 c.1354G>C p.E452Q missense 0.00002522●●●●●●
149. 335175 c.770G>A p.R257H missense 0.00002520●●●●●●
150. 335115 c.710A>C p.D237A missense 0.00002520●●●●●●
151. 335331 c.815C>T p.A272V missense 0.00002518●●●●●●
152. 335527 c.943G>T p.V315L missense 0.00002515●●●●●●
153. 336658 c.1345A>G p.T449A missense 0.00002514●●●●●●
154. 335633 c.1049T>C p.V350A missense 0.00002513●●●●●●
155. 336398 c.1165C>T p.P389S missense 0.00002513●●●●●●
156. 334504 c.317G>A p.R106H missense 0.00002163●●●●●●
157. 336929 c.1517C>T p.P506L missense 0.00002155●●●●●●
158. 336914 c.1502A>C p.E501A missense 0.00002151●●●●●●
159. 333219 c.50C>T p.S17L missense 0.00002069●●●●●●
160. 336878 c.1466A>T p.K489M missense 0.00002047●●●●●●
161. 336878 c.1466A>C p.K489T missense 0.00002047●●●●●●
162. 336875 c.1463C>A p.S488Y missense 0.00002041●●●●●●
163. 333189 c.20C>G p.P7R missense 0.00001937●●●●●●
164. 334590 c.403A>G p.T135A missense 0.00001898●●●●●●
165. 334581 c.394G>A p.E132K missense 0.00001873●●●●●●
166. 334578 c.391C>T p.P131S missense 0.00001844●●●●●●
167. 334458 c.271G>A p.E91K missense 0.00001815●●●●●●
168. 335692 c.1108G>A p.G370S missense 0.00001799●●●●●●
169. 333351 c.182C>T p.A61V missense 0.00001797●●●●●●
170. 333336 c.167T>C p.L56P missense 0.00001762●●●●●●
171. 335683 c.1099G>A p.V367I missense 0.00001751●●●●●●
172. 333270 c.101C>T p.P34L missense 0.00001742●●●●●●
173. 333315 c.146G>A p.R49H missense 0.00001741●●●●●●
174. 335418 c.902C>T p.A301V missense 0.00001741●●●●●●
175. 334461 c.274T>C p.S92P missense 0.00001724●●●●●●
176. 335393 c.877C>G p.L293V missense 0.00001707●●●●●●
177. 335381 c.865G>A p.A289T missense 0.00001696●●●●●●
178. 336686 c.1373T>C p.V458A missense 0.00001687●●●●●●
179. 336680 c.1367T>G p.F456C missense 0.00001685●●●●●●
180. 336667 c.1354G>A p.E452K missense 0.00001681●●●●●●
181. 335148 c.743C>T p.S248L missense 0.00001680●●●●●●
182. 336371 c.1138G>A p.E380K missense 0.00001680●●●●●●
183. 335192 c.787A>G p.N263D missense 0.00001679●●●●●●
184. 335645 c.1061C>T p.P354L missense 0.00001678●●●●●●
185. 336586 c.1273G>A p.A425T missense 0.00001677●●●●●●
186. 336560 c.1247C>T p.P416L missense 0.00001677●●●●●●
187. 336571 c.1258C>T p.H420Y missense 0.00001677●●●●●●
188. 336653 c.1340A>G p.D447G missense 0.00001676●●●●●●
189. 334918 c.581C>T p.A194V missense 0.00001676●●●●●●
190. 335527 c.943G>A p.V315M missense 0.00001676●●●●●●
191. 335627 c.1043C>T p.A348V missense 0.00001675●●●●●●
192. 336434 c.1201G>A p.V401M missense 0.00001674●●●●●●
193. 335564 c.980G>C p.G327A missense 0.00001673●●●●●●
194. 335582 c.998C>T p.A333V missense 0.00001673●●●●●●
195. 335566 c.982C>T p.L328F missense 0.00001673●●●●●●
196. 335549 c.965T>C p.V322A missense 0.00001673●●●●●●
197. 335619 c.1035G>C p.K345N missense 0.00001673●●●●●●
198. 335555 c.971A>G p.Q324R missense 0.00001673●●●●●●
199. 334944 c.607G>A p.G203S missense 0.00001672●●●●●●
200. 334963 c.626G>A p.R209Q missense 0.00001670●●●●●●
201. 334465 c.278T>C p.M93T missense 0.00001621●●●●●●
202. 334467 c.280G>A p.V94M missense 0.00001588●●●●●●
203. 334768 c.516C>G p.D172E missense 0.00001278●●●●●●
204. 334773 c.521T>G p.V174G missense 0.00001243●●●●●●
205. 334775 c.523G>C p.V175L missense 0.00001228●●●●●●
206. 334667 c.415G>A p.D139N missense 0.00001190●●●●●●
207. 334495 c.308C>A p.P103H missense 0.00001182●●●●●●
208. 334787 c.535T>C p.F179L missense 0.00001155●●●●●●
209. 334497 c.310G>A p.A104T missense 0.00001154●●●●●●
210. 336935 c.1523C>T p.A508V missense 0.00001078●●●●●●
211. 336907 c.1495A>C p.T499P missense 0.00001068●●●●●●
212. 336907 c.1495A>T p.T499S missense 0.00001068●●●●●●
213. 336905 c.1493C>A p.P498H missense 0.00001067●●●●●●
214. 336889 c.1477A>C p.N493H missense 0.00001063●●●●●●
215. 336863 c.1451T>C p.L484P missense 0.00001007●●●●●●
216. 336853 c.1441A>C p.T481P missense 0.00000994●●●●●●
217. 336844 c.1432T>C p.Y478H missense 0.00000986●●●●●●
218. 333224 c.55C>G p.P19A missense 0.00000985●●●●●●
219. 334536 c.349T>C p.Y117H missense 0.00000957●●●●●●
220. 334536 c.349T>G p.Y117D missense 0.00000957●●●●●●
221. 334537 c.350A>G p.Y117C missense 0.00000954●●●●●●
222. 334591 c.404C>T p.T135I missense 0.00000951●●●●●●
223. 334542 c.355A>G p.T119A missense 0.00000945●●●●●●
224. 335698 c.1114G>A p.V372I missense 0.00000942●●●●●●
225. 334584 c.397G>A p.E133K missense 0.00000942●●●●●●
226. 335696 c.1112A>C p.Q371P missense 0.00000918●●●●●●
227. 333239 c.70C>G p.Q24E missense 0.00000917●●●●●●
228. 335693 c.1109G>A p.G370D missense 0.00000909●●●●●●
229. 333246 c.77C>A p.A26E missense 0.00000903●●●●●●
230. 335689 c.1105A>G p.N369D missense 0.00000888●●●●●●
231. 333253 c.84C>A p.S28R missense 0.00000888●●●●●●
232. 335687 c.1103T>C p.L368P missense 0.00000883●●●●●●
233. 335430 c.914G>C p.R305P missense 0.00000882●●●●●●
234. 335433 c.917G>A p.G306E missense 0.00000880●●●●●●
235. 335424 c.908G>A p.R303H missense 0.00000879●●●●●●
236. 333332 c.163G>A p.A55T missense 0.00000878●●●●●●
237. 333324 c.155T>G p.L52R missense 0.00000872●●●●●●
238. 335681 c.1097C>T p.A366V missense 0.00000871●●●●●●
239. 333308 c.139C>G p.L47V missense 0.00000871●●●●●●
240. 333305 c.136G>A p.V46M missense 0.00000870●●●●●●
241. 333278 c.109G>A p.E37K missense 0.00000868●●●●●●
242. 336730 c.1417C>G p.R473G missense 0.00000858●●●●●●
243. 334878 c.541G>C p.D181H missense 0.00000858●●●●●●
244. 335402 c.886G>A p.G296S missense 0.00000857●●●●●●
245. 335400 c.884C>G p.A295G missense 0.00000857●●●●●●
246. 336721 c.1408G>A p.G470R missense 0.00000855●●●●●●
247. 336724 c.1411C>T p.P471S missense 0.00000855●●●●●●
248. 335390 c.874G>C p.E292Q missense 0.00000852●●●●●●
249. 335391 c.875A>T p.E292V missense 0.00000852●●●●●●
250. 336710 c.1397A>C p.Y466S missense 0.00000850●●●●●●
251. 335385 c.869A>G p.H290R missense 0.00000849●●●●●●
252. 335382 c.866C>A p.A289E missense 0.00000849●●●●●●
253. 334888 c.551A>G p.D184G missense 0.00000849●●●●●●
254. 335378 c.862G>A p.A288T missense 0.00000848●●●●●●
255. 335379 c.863C>T p.A288V missense 0.00000848●●●●●●
256. 335657 c.1073C>A p.A358E missense 0.00000842●●●●●●
257. 337093 c.1558G>C p.G520R missense 0.00000842●●●●●●
258. 335363 c.847G>A p.V283I missense 0.00000842●●●●●●
259. 336365 c.1132A>G p.S378G missense 0.00000842●●●●●●
260. 337078 c.1543G>A p.A515T missense 0.00000842●●●●●●
261. 337102 c.1567G>A p.E523K missense 0.00000842●●●●●●
262. 337088 c.1553C>T p.T518I missense 0.00000842●●●●●●
263. 336677 c.1364C>T p.A455V missense 0.00000842●●●●●●
264. 337090 c.1555A>C p.M519L missense 0.00000842●●●●●●
265. 336674 c.1361A>G p.D454G missense 0.00000841●●●●●●
266. 335653 c.1069G>A p.A357T missense 0.00000841●●●●●●
267. 337070 c.1535A>C p.E512A missense 0.00000841●●●●●●
268. 335348 c.832C>T p.H278Y missense 0.00000840●●●●●●
269. 335138 c.733G>A p.G245R missense 0.00000840●●●●●●
270. 335190 c.785T>G p.F262C missense 0.00000840●●●●●●
271. 335165 c.760C>G p.H254D missense 0.00000840●●●●●●
272. 335141 c.736G>A p.D246N missense 0.00000840●●●●●●
273. 335166 c.761A>G p.H254R missense 0.00000840●●●●●●
274. 335121 c.716A>G p.E239G missense 0.00000840●●●●●●
275. 336643 c.1330G>C p.A444P missense 0.00000839●●●●●●
276. 335641 c.1057G>A p.G353S missense 0.00000839●●●●●●
277. 335510 c.926T>C p.L309P missense 0.00000839●●●●●●
278. 336644 c.1331C>G p.A444G missense 0.00000839●●●●●●
279. 335336 c.820A>G p.R274G missense 0.00000839●●●●●●
280. 335518 c.934G>A p.V312M missense 0.00000839●●●●●●
281. 335087 c.682G>C p.D228H missense 0.00000839●●●●●●
282. 336610 c.1297G>C p.E433Q missense 0.00000838●●●●●●
283. 336565 c.1252T>A p.C418S missense 0.00000838●●●●●●
284. 334912 c.575C>T p.A192V missense 0.00000838●●●●●●
285. 336408 c.1175C>A p.T392N missense 0.00000838●●●●●●
286. 336565 c.1252T>C p.C418R missense 0.00000838●●●●●●
287. 336627 c.1314C>G p.H438Q missense 0.00000838●●●●●●
288. 336589 c.1276C>T p.P426S missense 0.00000838●●●●●●
289. 336602 c.1289C>A p.A430E missense 0.00000838●●●●●●
290. 336564 c.1251G>C p.W417C missense 0.00000838●●●●●●
291. 335639 c.1055G>A p.G352E missense 0.00000838●●●●●●
292. 336572 c.1259A>C p.H420P missense 0.00000838●●●●●●
293. 335621 c.1037A>G p.K346R missense 0.00000837●●●●●●
294. 336462 c.1229T>C p.F410S missense 0.00000837●●●●●●
295. 335585 c.1001C>T p.P334L missense 0.00000837●●●●●●
296. 334924 c.587A>T p.D196V missense 0.00000837●●●●●●
297. 336417 c.1184G>C p.G395A missense 0.00000837●●●●●●
298. 335602 c.1018A>T p.N340Y missense 0.00000836●●●●●●
299. 335571 c.987G>T p.K329N missense 0.00000836●●●●●●
300. 335560 c.976T>C p.F326L missense 0.00000836●●●●●●
301. 335605 c.1021C>A p.L341I missense 0.00000836●●●●●●
302. 335573 c.989C>T p.A330V missense 0.00000836●●●●●●
303. 335587 c.1003A>G p.T335A missense 0.00000836●●●●●●
304. 335563 c.979G>A p.G327R missense 0.00000836●●●●●●
305. 335579 c.995C>T p.A332V missense 0.00000836●●●●●●
306. 335594 c.1010G>A p.R337H missense 0.00000836●●●●●●
307. 335584 c.1000C>T p.P334S missense 0.00000836●●●●●●
308. 334953 c.616G>T p.D206Y missense 0.00000835●●●●●●
309. 334990 c.653A>T p.K218M missense 0.00000835●●●●●●
310. 334998 c.661G>A p.V221M missense 0.00000835●●●●●●
311. 334986 c.649A>G p.T217A missense 0.00000835●●●●●●
312. 334990 c.653A>G p.K218R missense 0.00000835●●●●●●
313. 334959 c.622C>G p.P208A missense 0.00000835●●●●●●
314. 334996 c.659C>T p.T220I missense 0.00000835●●●●●●

* 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.