PDIA2 variants in ExAC

PDIA2 gene summary
PDIA2 variants in

The table below lists the PDIA2 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. 336888 c.1476_1477insA p.Asn493LysfsTer64 frameshift 0.01059035●●●●●●
9. 334464 c.277A>G p.M93V missense 0.01053837●●●●●●
10. 334920 c.583C>T p.Q195X nonsense 0.00896373●●●●●●
11. 334899 c.562G>A p.A188T missense 0.00723967●●●●●●
12. 335639 c.1055G>T p.G352V missense 0.00722548●●●●●●
13. 336701 c.1388_1389delCT p.Leu464GlnfsTer13 frameshift 0.00653938●●●●●●
14. 333284 c.115C>T p.P39S missense 0.00548669●●●●●●
15. 336731 c.1418G>A p.R473Q missense 0.00521129●●●●●●
16. 336854 c.1442C>G p.T481S missense 0.00488684●●●●●●
17. 334531 c.344C>T p.T115M missense 0.00471295●●●●●●
18. 336716 c.1403C>T p.P468L missense 0.00427044●●●●●●
19. 333193 c.24_25insCTG p.Val8_Leu9insLeu inframe 0.00414097●●●●●●
20. 335530 c.946G>T p.A316S missense 0.00288238●●●●●●
21. 336691 c.1378G>A p.G460S missense 0.00246651●●●●●●
22. 336438 c.1205C>T p.A402V missense 0.00236895●●●●●●
23. 334957 c.620G>A p.R207Q missense 0.00155381●●●●●●
24. 334534 c.347A>G p.E116G missense 0.00140013●●●●●●
25. 336860 c.1448A>T p.D483V missense 0.00139253●●●●●●
26. 334685 c.433G>A p.E145K missense 0.00137181●●●●●●
27. 336898 c.1486G>A p.V496M missense 0.00112367●●●●●●
28. 333194 c.25_27delCTG p.Leu12del inframe 0.00107489●●●●●●
29. 333176 c.7C>T p.R3C missense 0.00094572●●●●●●
30. 334763 c.511C>T p.R171W missense 0.00094357●●●●●●
31. 334701 c.449G>A p.R150Q missense 0.00076951●●●●●●
32. 335584 c.1000_1001insCCACTCT p.Arg337HisfsTer8 frameshift 0.00069410●●●●●●
33. 334378 c.200-9A>C splice site 0.00067904●●●●●●
34. 333246 c.77C>T p.A26V missense 0.00066829●●●●●●
35. 336446 c.1213G>A p.E405K missense 0.00063622●●●●●●
36. 333177 c.8G>A p.R3H missense 0.00059988●●●●●●
37. 335708 c.1119+5G>A splice site 0.00054328●●●●●●
38. 334665 c.413G>A p.R138Q missense 0.00047858●●●●●●
39. 336346 c.1120-7C>G splice site 0.00046137●●●●●●
40. 336660 c.1347_1348insCCAACGAGCTGGATGCCACA p.Ala450ProfsTer33 frameshift 0.00045283●●●●●●
41. 336659 c.1346_1347insA p.Ala450GlyfsTer28 frameshift 0.00045261●●●●●●
42. 335430 c.914G>A p.R305Q missense 0.00042333●●●●●●
43. 334575 c.388C>T p.H130Y missense 0.00041428●●●●●●
44. 336872 c.1460T>C p.F487S missense 0.00037567●●●●●●
45. 334721 c.469C>T p.R157W missense 0.00033781●●●●●●
46. 334709 c.457C>G p.P153A missense 0.00031467●●●●●●
47. 336892 c.1480G>A p.G494R missense 0.00029438●●●●●●
48. 336545 c.1241-9C>T splice site 0.00027672●●●●●●
49. 334722 c.470G>A p.R157Q missense 0.00027452●●●●●●
50. 334381 c.200-6C>T splice site 0.00022178●●●●●●
51. 336825 c.1423-10C>T splice site 0.00019425●●●●●●
52. 336628 c.1315G>A p.E439K missense 0.00019277●●●●●●
53. 334926 c.589G>A p.A197T missense 0.00018416●●●●●●
54. 334462 c.275C>T p.S92L missense 0.00016961●●●●●●
55. 335122 c.717G>C p.E239D missense 0.00016798●●●●●●
56. 336413 c.1180G>A p.V394M missense 0.00016749●●●●●●
57. 334700 c.448C>T p.R150W missense 0.00016602●●●●●●
58. 336944 c.1532C>T p.P511L missense 0.00016109●●●●●●
59. 336846 c.1434C>G p.Y478X nonsense 0.00015833●●●●●●
60. 334557 c.370C>T p.R124C missense 0.00015636●●●●●●
61. 336730 c.1417C>T p.R473W missense 0.00014589●●●●●●
62. 335205 c.795+5G>A splice site 0.00014280●●●●●●
63. 336560 c.1247C>A p.P416Q missense 0.00014258●●●●●●
64. 336559 c.1246C>G p.P416A missense 0.00014255●●●●●●
65. 335707 c.1119+4C>T splice site 0.00013970●●●●●●
66. 336908 c.1496C>T p.T499M missense 0.00013969●●●●●●
67. 336945 c.1533G>A splice site 0.00013941●●●●●●
68. 335311 c.796-1G>A essential splice site 0.00013423●●●●●●
69. 336381 c.1148_1149delCT p.Pro383ArgfsTer8 frameshift 0.00013423●●●●●●
70. 335614 c.1030A>C p.T344P missense 0.00013384●●●●●●
71. 334726 c.474_476delGGA p.Glu159del inframe 0.00012995●●●●●●
72. 337076 c.1541C>T p.P514L missense 0.00012623●●●●●●
73. 334922 c.585_593dupGGACGCCCT p.Asp196_Leu198dup inframe 0.00012563●●●●●●
74. 334935 c.598A>G p.M200V missense 0.00012545●●●●●●
75. 334757 c.505G>A p.G169S missense 0.00012291●●●●●●
76. 335654 c.1070C>T p.A357V missense 0.00011787●●●●●●
77. 336659 c.1346C>T p.T449M missense 0.00011734●●●●●●
78. 335536 c.952G>A p.D318N missense 0.00011722●●●●●●
79. 336445 c.1212C>G p.D404E missense 0.00011720●●●●●●
80. 335593 c.1009C>T p.R337C missense 0.00011706●●●●●●
81. 334791 c.539A>G p.Q180R missense 0.00011338●●●●●●
82. 335012 c.675G>C p.K225N missense 0.00010860●●●●●●
83. 336920 c.1508C>T p.P503L missense 0.00010815●●●●●●
84. 334569 c.382C>T p.R128C missense 0.00010121●●●●●●
85. 336682 c.1369G>A p.A457T missense 0.00010114●●●●●●
86. 335151 c.746G>A p.R249H missense 0.00010078●●●●●●
87. 336463 c.1230_1233delTGTC p.Phe410LeufsTer65 frameshift 0.00010045●●●●●●
88. 336859 c.1447G>T p.D483Y missense 0.00010022●●●●●●
89. 334999 c.662T>A p.V221E missense 0.00010021●●●●●●
90. 334393 c.206C>T p.P69L missense 0.00009810●●●●●●
91. 334506 c.319G>A p.E107K missense 0.00009556●●●●●●
92. 335330 c.814G>A p.A272T missense 0.00009230●●●●●●
93. 334446 c.259G>A p.V87M missense 0.00009148●●●●●●
94. 334474 c.287C>T p.T96M missense 0.00008820●●●●●●
95. 335423 c.907C>T p.R303C missense 0.00008762●●●●●●
96. 334593 c.406G>A p.G136R missense 0.00008587●●●●●●
97. 336355 c.1122C>T splice site 0.00008459●●●●●●
98. 335313 c.797C>T p.T266M missense 0.00008392●●●●●●
99. 335548 c.964G>C p.V322L missense 0.00008368●●●●●●
100. 334664 c.412C>T p.R138W missense 0.00008300●●●●●●
101. 334453 c.266C>T p.A89V missense 0.00008286●●●●●●
102. 335692 c.1108G>T p.G370C missense 0.00008096●●●●●●
103. 333338 c.169C>T p.R57W missense 0.00007957●●●●●●
104. 336743 c.1422+8G>A splice site 0.00007833●●●●●●
105. 335388 c.872G>A p.R291Q missense 0.00007664●●●●●●
106. 335387 c.871C>T p.R291W missense 0.00007657●●●●●●
107. 335577 c.993G>C p.E331D missense 0.00007527●●●●●●
108. 334959 c.622C>T p.P208S missense 0.00007517●●●●●●
109. 334579 c.392C>T p.P131L missense 0.00007387●●●●●●
110. 334670 c.418G>A p.A140T missense 0.00007202●●●●●●
111. 334742 c.490G>A p.A164T missense 0.00007200●●●●●●
112. 336860 c.1448A>C p.D483A missense 0.00007013●●●●●●
113. 334698 c.446G>A p.R149Q missense 0.00006869●●●●●●
114. 335368 c.852C>G p.N284K missense 0.00006743●●●●●●
115. 337067 c.1534-2A>G essential splice site 0.00006732●●●●●●
116. 335117 c.712G>A p.E238K missense 0.00006720●●●●●●
117. 335151 c.746G>T p.R249L missense 0.00006719●●●●●●
118. 335106 c.701T>A p.F234Y missense 0.00006717●●●●●●
119. 336629 c.1316A>C p.E439A missense 0.00006705●●●●●●
120. 336462 c.1229T>G p.F410C missense 0.00006697●●●●●●
121. 334503 c.316C>T p.R106C missense 0.00006578●●●●●●
122. 334558 c.371G>A p.R124H missense 0.00006434●●●●●●
123. 336908 c.1496_1507delCGGAGGAGCCCC p.Glu500_Pro503del inframe 0.00006407●●●●●●
124. 336946 c.1533+1G>T essential splice site 0.00006379●●●●●●
125. 333292 c.123G>C p.E41D missense 0.00006066●●●●●●
126. 334872 c.541-6C>T splice site 0.00006059●●●●●●
127. 335150 c.745C>T p.R249C missense 0.00005878●●●●●●
128. 336596 c.1283G>A p.W428X nonsense 0.00005868●●●●●●
129. 335081 c.679-3C>T splice site 0.00005868●●●●●●
130. 336474 c.1240+1G>T essential splice site 0.00005860●●●●●●
131. 334716 c.464C>T p.A155V missense 0.00005739●●●●●●
132. 334590 c.403A>C p.T135P missense 0.00005694●●●●●●
133. 334749 c.497C>T p.A166V missense 0.00005639●●●●●●
134. 334380 c.200-7C>G splice site 0.00005600●●●●●●
135. 334697 c.445C>T p.R149W missense 0.00005393●●●●●●
136. 334384 c.200-3C>T splice site 0.00005374●●●●●●
137. 333339 c.170G>A p.R57Q missense 0.00005304●●●●●●
138. 333258 c.89C>T p.S30L missense 0.00005293●●●●●●
139. 333194 c.25_30dupCTGCTG p.Leu9_Leu10dup inframe 0.00005286●●●●●●
140. 334386 c.200-1G>C essential splice site 0.00005257●●●●●●
141. 335414 c.898G>A p.A300T missense 0.00005204●●●●●●
142. 334889 c.552C>A p.D184E missense 0.00005092●●●●●●
143. 334896 c.559G>A p.V187M missense 0.00005051●●●●●●
144. 335567 c.983T>A p.L328H missense 0.00005018●●●●●●
145. 335563 c.979G>C p.G327R missense 0.00005017●●●●●●
146. 334962 c.625C>T p.R209W missense 0.00005011●●●●●●
147. 334960 c.623C>T p.P208L missense 0.00005011●●●●●●
148. 334604 c.406+11G>C splice site 0.00004931●●●●●●
149. 334676 c.424G>A p.G142S missense 0.00004853●●●●●●
150. 334543 c.356C>T p.T119M missense 0.00004644●●●●●●
151. 335686 c.1102C>G p.L368V missense 0.00004400●●●●●●
152. 335426 c.910T>C p.F304L missense 0.00004385●●●●●●
153. 334737 c.485C>T p.A162V missense 0.00004366●●●●●●
154. 334733 c.481G>A p.E161K missense 0.00004325●●●●●●
155. 336938 c.1526C>T p.P509L missense 0.00004313●●●●●●
156. 335382 c.866C>T p.A289V missense 0.00004245●●●●●●
157. 337112 c.1577A>T p.Ter526LeuextTer26 nonsense 0.00004215●●●●●●
158. 336646 c.1333G>C p.E445Q missense 0.00004190●●●●●●
159. 335548 c.964G>A p.V322M missense 0.00004184●●●●●●
160. 334694 c.442C>T p.R148X nonsense 0.00004052●●●●●●
161. 336866 c.1454A>G p.E485G missense 0.00004032●●●●●●
162. 334695 c.443G>A p.R148Q missense 0.00004019●●●●●●
163. 334764 c.512G>A p.R171Q missense 0.00003963●●●●●●
164. 334772 c.520G>A p.V174M missense 0.00003751●●●●●●
165. 334555 c.368T>C p.F123S missense 0.00003679●●●●●●
166. 334561 c.374A>G p.N125S missense 0.00003664●●●●●●
167. 335436 c.920A>G p.Q307R missense 0.00003518●●●●●●
168. 334420 c.233_235delCCC p.Pro79del inframe 0.00003457●●●●●●
169. 336349 c.1120-4C>T splice site 0.00003404●●●●●●
170. 336350 c.1120-3C>T splice site 0.00003400●●●●●●
171. 335503 c.922-3C>T splice site 0.00003362●●●●●●
172. 335174 c.769C>T p.R257C missense 0.00003361●●●●●●
173. 335111 c.706G>A p.V236M missense 0.00003360●●●●●●
174. 335184 c.779C>T p.T260M missense 0.00003359●●●●●●
175. 335204 c.795+4C>T splice site 0.00003359●●●●●●
176. 335096 c.691C>T p.R231W missense 0.00003358●●●●●●
177. 336382 c.1149delT p.Asp384IlefsTer92 frameshift 0.00003356●●●●●●
178. 335515 c.931G>A p.V311M missense 0.00003355●●●●●●
179. 335084 c.679T>C p.F227L missense 0.00003354●●●●●●
180. 335599 c.1015G>A p.V339I missense 0.00003345●●●●●●
181. 334956 c.619C>T p.R207W missense 0.00003341●●●●●●
182. 336925 c.1513G>A p.E505K missense 0.00003225●●●●●●
183. 336954 c.1533+9C>T splice site 0.00003148●●●●●●
184. 334599 c.406+6G>A splice site 0.00002919●●●●●●
185. 334593 c.406G>C p.G136R missense 0.00002862●●●●●●
186. 334573 c.386C>T p.T129M missense 0.00002761●●●●●●
187. 334480 c.293C>T p.A98V missense 0.00002697●●●●●●
188. 333249 c.80G>A p.R27K missense 0.00002678●●●●●●
189. 333327 c.158_159insCCTGGC p.Gly53_Leu54insLeuAla inframe 0.00002627●●●●●●
190. 336740 c.1422+5G>A splice site 0.00002602●●●●●●
191. 333290 c.121G>A p.E41K missense 0.00002599●●●●●●
192. 335400 c.884C>T p.A295V missense 0.00002570●●●●●●
193. 336728 c.1415G>A p.G472D missense 0.00002569●●●●●●
194. 336356 c.1123T>C p.Y375H missense 0.00002536●●●●●●
195. 336357 c.1124A>G p.Y375C missense 0.00002535●●●●●●
196. 337104 c.1569delG p.Glu524AsnfsTer30 frameshift 0.00002527●●●●●●
197. 335653 c.1069G>C p.A357P missense 0.00002524●●●●●●
198. 336667 c.1354G>C p.E452Q missense 0.00002522●●●●●●
199. 335115 c.710A>C p.D237A missense 0.00002520●●●●●●
200. 335175 c.770G>A p.R257H missense 0.00002520●●●●●●
201. 335204 c.795+4C>A splice site 0.00002519●●●●●●
202. 335331 c.815C>T p.A272V missense 0.00002518●●●●●●
203. 336549 c.1241-5C>T splice site 0.00002516●●●●●●
204. 335527 c.943G>T p.V315L missense 0.00002515●●●●●●
205. 336658 c.1345A>G p.T449A missense 0.00002514●●●●●●
206. 335633 c.1049T>C p.V350A missense 0.00002513●●●●●●
207. 336403 c.1170_1171insA p.Thr392AspfsTer8 frameshift 0.00002513●●●●●●
208. 336398 c.1165C>T p.P389S missense 0.00002513●●●●●●
209. 334504 c.317G>A p.R106H missense 0.00002163●●●●●●
210. 336929 c.1517C>T p.P506L missense 0.00002155●●●●●●
211. 336913 c.1501G>T p.E501X nonsense 0.00002153●●●●●●
212. 336914 c.1502A>C p.E501A missense 0.00002151●●●●●●
213. 333219 c.50C>T p.S17L missense 0.00002069●●●●●●
214. 336878 c.1466A>T p.K489M missense 0.00002047●●●●●●
215. 336878 c.1466A>C p.K489T missense 0.00002047●●●●●●
216. 336875 c.1463C>A p.S488Y missense 0.00002041●●●●●●
217. 334518 c.331G>T p.E111X nonsense 0.00002006●●●●●●
218. 336847 c.1435delA p.Ser480AlafsTer74 frameshift 0.00001979●●●●●●
219. 333189 c.20C>G p.P7R missense 0.00001937●●●●●●
220. 334590 c.403A>G p.T135A missense 0.00001898●●●●●●
221. 334581 c.394G>A p.E132K missense 0.00001873●●●●●●
222. 334578 c.391C>T p.P131S missense 0.00001844●●●●●●
223. 334458 c.271G>A p.E91K missense 0.00001815●●●●●●
224. 333246 c.77_78insGAGGAGCCCCTCG p.Pro34LeufsTer81 frameshift 0.00001806●●●●●●
225. 335692 c.1108G>A p.G370S missense 0.00001799●●●●●●
226. 333351 c.182C>T p.A61V missense 0.00001797●●●●●●
227. 333194 c.25_30delCTGCTG p.Leu10_Leu11del inframe 0.00001762●●●●●●
228. 333336 c.167T>C p.L56P missense 0.00001762●●●●●●
229. 335683 c.1099G>A p.V367I missense 0.00001751●●●●●●
230. 333270 c.101C>T p.P34L missense 0.00001742●●●●●●
231. 335418 c.902C>T p.A301V missense 0.00001741●●●●●●
232. 333315 c.146G>A p.R49H missense 0.00001741●●●●●●
233. 334461 c.274T>C p.S92P missense 0.00001724●●●●●●
234. 336346 c.1120-7C>T splice site 0.00001709●●●●●●
235. 335393 c.877C>G p.L293V missense 0.00001707●●●●●●
236. 336348 c.1120-5C>T splice site 0.00001704●●●●●●
237. 335381 c.865G>A p.A289T missense 0.00001696●●●●●●
238. 336699 c.1386_1395delTACTCTCAAG p.Leu464SerfsTer9 frameshift 0.00001692●●●●●●
239. 336686 c.1373T>C p.V458A missense 0.00001687●●●●●●
240. 337113 c.1578G>C p.Ter526TyrextTer26 nonsense 0.00001686●●●●●●
241. 336680 c.1367T>G p.F456C missense 0.00001685●●●●●●
242. 337068 c.1534-1G>C essential splice site 0.00001683●●●●●●
243. 337061 c.1534-8C>T splice site 0.00001683●●●●●●
244. 336368 c.1135C>T p.Q379X nonsense 0.00001682●●●●●●
245. 336667 c.1354G>A p.E452K missense 0.00001681●●●●●●
246. 336371 c.1138G>A p.E380K missense 0.00001680●●●●●●
247. 335148 c.743C>T p.S248L missense 0.00001680●●●●●●
248. 335192 c.787A>G p.N263D missense 0.00001679●●●●●●
249. 335645 c.1061C>T p.P354L missense 0.00001678●●●●●●
250. 335314 c.798G>A splice site 0.00001678●●●●●●
251. 336586 c.1273G>A p.A425T missense 0.00001677●●●●●●
252. 336560 c.1247C>T p.P416L missense 0.00001677●●●●●●
253. 336571 c.1258C>T p.H420Y missense 0.00001677●●●●●●
254. 336653 c.1340A>G p.D447G missense 0.00001676●●●●●●
255. 335527 c.943G>A p.V315M missense 0.00001676●●●●●●
256. 334918 c.581C>T p.A194V missense 0.00001676●●●●●●
257. 334922 c.585_593delGGACGCCCT p.Asp196_Leu198del inframe 0.00001675●●●●●●
258. 335627 c.1043C>T p.A348V missense 0.00001675●●●●●●
259. 336434 c.1201G>A p.V401M missense 0.00001674●●●●●●
260. 335566 c.982C>T p.L328F missense 0.00001673●●●●●●
261. 335619 c.1035G>C p.K345N missense 0.00001673●●●●●●
262. 335582 c.998C>T p.A333V missense 0.00001673●●●●●●
263. 335555 c.971A>G p.Q324R missense 0.00001673●●●●●●
264. 335564 c.980G>C p.G327A missense 0.00001673●●●●●●
265. 335549 c.965T>C p.V322A missense 0.00001673●●●●●●
266. 334944 c.607G>A p.G203S missense 0.00001672●●●●●●
267. 335020 c.678+5G>T splice site 0.00001671●●●●●●
268. 335015 c.678G>A p.K226K splice site 0.00001671●●●●●●
269. 334966 c.629_632delTCTT p.Phe211SerfsTer83 frameshift 0.00001670●●●●●●
270. 334963 c.626G>A p.R209Q missense 0.00001670●●●●●●
271. 334465 c.278T>C p.M93T missense 0.00001621●●●●●●
272. 334467 c.280G>A p.V94M missense 0.00001588●●●●●●
273. 334768 c.516C>G p.D172E missense 0.00001278●●●●●●
274. 334772 c.520_522delGTG p.Val174del inframe 0.00001257●●●●●●
275. 334773 c.521T>G p.V174G missense 0.00001243●●●●●●
276. 334775 c.523G>C p.V175L missense 0.00001228●●●●●●
277. 334667 c.415G>A p.D139N missense 0.00001190●●●●●●
278. 334495 c.308C>A p.P103H missense 0.00001182●●●●●●
279. 334658 c.407-1G>A essential splice site 0.00001172●●●●●●
280. 334787 c.535T>C p.F179L missense 0.00001155●●●●●●
281. 334497 c.310G>A p.A104T missense 0.00001154●●●●●●
282. 334792 c.540G>A splice site 0.00001125●●●●●●
283. 334794 c.540+2T>C essential splice site 0.00001115●●●●●●
284. 334503 c.316_317insGCGAGCTG p.Glu110SerfsTer8 frameshift 0.00001096●●●●●●
285. 336935 c.1523C>T p.A508V missense 0.00001078●●●●●●
286. 336907 c.1495A>C p.T499P missense 0.00001068●●●●●●
287. 336907 c.1495A>T p.T499S missense 0.00001068●●●●●●
288. 336905 c.1493C>A p.P498H missense 0.00001067●●●●●●
289. 336889 c.1477A>C p.N493H missense 0.00001063●●●●●●
290. 336898 c.1486_1487insT p.Leu497AlafsTer60 frameshift 0.00001060●●●●●●
291. 336897 c.1485_1486insAA p.Val496LysfsTer59 frameshift 0.00001059●●●●●●
292. 336950 c.1533+5G>A splice site 0.00001057●●●●●●
293. 336950 c.1533+5G>T splice site 0.00001057●●●●●●
294. 336892 c.1480_1481delGG p.Gly495ArgfsTer61 frameshift 0.00001053●●●●●●
295. 336956 c.1533+11C>T splice site 0.00001046●●●●●●
296. 336863 c.1451T>C p.L484P missense 0.00001007●●●●●●
297. 336853 c.1441A>C p.T481P missense 0.00000994●●●●●●
298. 336844 c.1432T>C p.Y478H missense 0.00000986●●●●●●
299. 336845 c.1433_1434insCAAAAG p.Tyr478_Lys479insLysSer inframe 0.00000986●●●●●●
300. 333224 c.55C>G p.P19A missense 0.00000985●●●●●●
301. 336827 c.1423-8C>G splice site 0.00000973●●●●●●
302. 336828 c.1423-7T>G splice site 0.00000973●●●●●●
303. 334536 c.349T>C p.Y117H missense 0.00000957●●●●●●
304. 334594 c.406+1G>A essential splice site 0.00000957●●●●●●
305. 334536 c.349T>G p.Y117D missense 0.00000957●●●●●●
306. 333229 c.60G>A p.W20X nonsense 0.00000955●●●●●●
307. 334537 c.350A>G p.Y117C missense 0.00000954●●●●●●
308. 334591 c.404C>T p.T135I missense 0.00000951●●●●●●
309. 334542 c.355A>G p.T119A missense 0.00000945●●●●●●
310. 335698 c.1114G>A p.V372I missense 0.00000942●●●●●●
311. 334584 c.397G>A p.E133K missense 0.00000942●●●●●●
312. 333233 c.64C>T p.Q22X nonsense 0.00000938●●●●●●
313. 334556 c.369delC p.Arg124AlafsTer44 frameshift 0.00000920●●●●●●
314. 335696 c.1112A>C p.Q371P missense 0.00000918●●●●●●
315. 333239 c.70C>G p.Q24E missense 0.00000917●●●●●●
316. 333366 c.197_198delTC p.Phe66LeufsTer44 frameshift 0.00000916●●●●●●
317. 335695 c.1111C>T p.Q371X nonsense 0.00000914●●●●●●
318. 335693 c.1109G>A p.G370D missense 0.00000909●●●●●●
319. 333246 c.77C>A p.A26E missense 0.00000903●●●●●●
320. 333345 c.176_177insCCCTG p.Leu63ProfsTer54 frameshift 0.00000892●●●●●●
321. 333253 c.84C>A p.S28R missense 0.00000888●●●●●●
322. 335689 c.1105A>G p.N369D missense 0.00000888●●●●●●
323. 333338 c.169_170insG p.Glu58GlyfsTer53 frameshift 0.00000884●●●●●●
324. 335442 c.921+5_921+6insG splice site 0.00000884●●●●●●
325. 335687 c.1103T>C p.L368P missense 0.00000883●●●●●●
326. 335430 c.914G>C p.R305P missense 0.00000882●●●●●●
327. 333258 c.89C>A p.S30X nonsense 0.00000882●●●●●●
328. 335441 c.921+4C>G splice site 0.00000881●●●●●●
329. 335433 c.917G>A p.G306E missense 0.00000880●●●●●●
330. 335424 c.908G>A p.R303H missense 0.00000879●●●●●●
331. 333332 c.163G>A p.A55T missense 0.00000878●●●●●●
332. 333324 c.155T>G p.L52R missense 0.00000872●●●●●●
333. 335681 c.1097C>T p.A366V missense 0.00000871●●●●●●
334. 333308 c.139C>G p.L47V missense 0.00000871●●●●●●
335. 333305 c.136G>A p.V46M missense 0.00000870●●●●●●
336. 336743 c.1422+8G>T splice site 0.00000870●●●●●●
337. 333278 c.109G>A p.E37K missense 0.00000868●●●●●●
338. 334872 c.541-6C>A splice site 0.00000866●●●●●●
339. 334878 c.541G>C p.D181H missense 0.00000858●●●●●●
340. 336730 c.1417C>G p.R473G missense 0.00000858●●●●●●
341. 335400 c.884C>G p.A295G missense 0.00000857●●●●●●
342. 335402 c.886G>A p.G296S missense 0.00000857●●●●●●
343. 336724 c.1411C>T p.P471S missense 0.00000855●●●●●●
344. 336721 c.1408G>A p.G470R missense 0.00000855●●●●●●
345. 335391 c.875A>T p.E292V missense 0.00000852●●●●●●
346. 335390 c.874G>C p.E292Q missense 0.00000852●●●●●●
347. 336710 c.1397A>C p.Y466S missense 0.00000850●●●●●●
348. 335382 c.866C>A p.A289E missense 0.00000849●●●●●●
349. 335385 c.869A>G p.H290R missense 0.00000849●●●●●●
350. 334888 c.551A>G p.D184G missense 0.00000849●●●●●●
351. 336352 c.1120-1G>C essential splice site 0.00000848●●●●●●
352. 335378 c.862G>A p.A288T missense 0.00000848●●●●●●
353. 335379 c.863delC p.Ala288ValfsTer7 frameshift 0.00000848●●●●●●
354. 335379 c.863C>T p.A288V missense 0.00000848●●●●●●
355. 337093 c.1558G>C p.G520R missense 0.00000842●●●●●●
356. 337078 c.1543G>A p.A515T missense 0.00000842●●●●●●
357. 336365 c.1132A>G p.S378G missense 0.00000842●●●●●●
358. 336677 c.1364C>T p.A455V missense 0.00000842●●●●●●
359. 337102 c.1567G>A p.E523K missense 0.00000842●●●●●●
360. 337088 c.1553C>T p.T518I missense 0.00000842●●●●●●
361. 337102 c.1567G>T p.E523X nonsense 0.00000842●●●●●●
362. 335657 c.1073C>A p.A358E missense 0.00000842●●●●●●
363. 335363 c.847G>A p.V283I missense 0.00000842●●●●●●
364. 337104 c.1569dupG p.Glu524GlyfsTer33 frameshift 0.00000842●●●●●●
365. 337090 c.1555A>C p.M519L missense 0.00000842●●●●●●
366. 336674 c.1361A>G p.D454G missense 0.00000841●●●●●●
367. 335653 c.1069G>A p.A357T missense 0.00000841●●●●●●
368. 337070 c.1535A>C p.E512A missense 0.00000841●●●●●●
369. 337071 c.1536G>A splice site 0.00000841●●●●●●
370. 335138 c.733G>A p.G245R missense 0.00000840●●●●●●
371. 335138 c.733_740delGGGGATCT p.Gly245ValfsTer73 frameshift 0.00000840●●●●●●
372. 335148 c.743C>A p.S248X nonsense 0.00000840●●●●●●
373. 335348 c.832C>T p.H278Y missense 0.00000840●●●●●●
374. 335141 c.736G>A p.D246N missense 0.00000840●●●●●●
375. 335190 c.785T>G p.F262C missense 0.00000840●●●●●●
376. 335165 c.760C>G p.H254D missense 0.00000840●●●●●●
377. 335121 c.716A>G p.E239G missense 0.00000840●●●●●●
378. 335166 c.761A>G p.H254R missense 0.00000840●●●●●●
379. 335336 c.820A>G p.R274G missense 0.00000839●●●●●●
380. 336550 c.1241-4C>T splice site 0.00000839●●●●●●
381. 335314 c.798G>C splice site 0.00000839●●●●●●
382. 335510 c.926T>C p.L309P missense 0.00000839●●●●●●
383. 335314 c.798G>T splice site 0.00000839●●●●●●
384. 336643 c.1330G>C p.A444P missense 0.00000839●●●●●●
385. 335510 c.926delT p.Leu309ArgfsTer69 frameshift 0.00000839●●●●●●
386. 335641 c.1057G>A p.G353S missense 0.00000839●●●●●●
387. 336549 c.1241-5C>A splice site 0.00000839●●●●●●
388. 335518 c.934G>A p.V312M missense 0.00000839●●●●●●
389. 335087 c.682G>C p.D228H missense 0.00000839●●●●●●
390. 336644 c.1331C>G p.A444G missense 0.00000839●●●●●●
391. 336622 c.1309delG p.Asp437ThrfsTer39 frameshift 0.00000838●●●●●●
392. 336408 c.1175_1176insT p.Leu393ProfsTer7 frameshift 0.00000838●●●●●●
393. 336408 c.1175C>A p.T392N missense 0.00000838●●●●●●
394. 334912 c.575C>T p.A192V missense 0.00000838●●●●●●
395. 335078 c.679-6G>A splice site 0.00000838●●●●●●
396. 336572 c.1259A>C p.H420P missense 0.00000838●●●●●●
397. 336565 c.1252T>A p.C418S missense 0.00000838●●●●●●
398. 336602 c.1289C>A p.A430E missense 0.00000838●●●●●●
399. 336564 c.1251G>A p.W417X nonsense 0.00000838●●●●●●
400. 335639 c.1055G>A p.G352E missense 0.00000838●●●●●●
401. 336565 c.1252T>C p.C418R missense 0.00000838●●●●●●
402. 335080 c.679-4C>A splice site 0.00000838●●●●●●
403. 336610 c.1297G>C p.E433Q missense 0.00000838●●●●●●
404. 334915 c.578_579insGGCCCA p.Leu193_Ala194insAlaGln inframe 0.00000838●●●●●●
405. 336589 c.1276C>T p.P426S missense 0.00000838●●●●●●
406. 335638 c.1054delG p.Gly353AlafsTer25 frameshift 0.00000838●●●●●●
407. 336627 c.1314C>G p.H438Q missense 0.00000838●●●●●●
408. 336564 c.1251G>C p.W417C missense 0.00000838●●●●●●
409. 336460 c.1227_1235delGTTTGTCAA p.Phe410_Lys412del inframe 0.00000837●●●●●●
410. 336462 c.1229T>C p.F410S missense 0.00000837●●●●●●
411. 336439 c.1206_1207delTT p.Phe403Ter frameshift 0.00000837●●●●●●
412. 335621 c.1037A>G p.K346R missense 0.00000837●●●●●●
413. 336417 c.1184G>C p.G395A missense 0.00000837●●●●●●
414. 336473 c.1240_1240+1delTG essential splice site 0.00000837●●●●●●
415. 335585 c.1001C>T p.P334L missense 0.00000837●●●●●●
416. 336446 c.1213G>T p.E405X nonsense 0.00000837●●●●●●
417. 334924 c.587A>T p.D196V missense 0.00000837●●●●●●
418. 335605 c.1021C>A p.L341I missense 0.00000836●●●●●●
419. 335587 c.1003A>G p.T335A missense 0.00000836●●●●●●
420. 335563 c.979G>A p.G327R missense 0.00000836●●●●●●
421. 335579 c.995C>T p.A332V missense 0.00000836●●●●●●
422. 335554 c.970C>T p.Q324X nonsense 0.00000836●●●●●●
423. 335594 c.1010G>A p.R337H missense 0.00000836●●●●●●
424. 335584 c.1000C>T p.P334S missense 0.00000836●●●●●●
425. 335571 c.987G>T p.K329N missense 0.00000836●●●●●●
426. 335602 c.1018A>T p.N340Y missense 0.00000836●●●●●●
427. 335560 c.976T>C p.F326L missense 0.00000836●●●●●●
428. 335573 c.989C>T p.A330V missense 0.00000836●●●●●●
429. 334990 c.653A>T p.K218M missense 0.00000835●●●●●●
430. 334998 c.661G>A p.V221M missense 0.00000835●●●●●●
431. 334986 c.649A>G p.T217A missense 0.00000835●●●●●●
432. 334990 c.653A>G p.K218R missense 0.00000835●●●●●●
433. 334959 c.622C>G p.P208A missense 0.00000835●●●●●●
434. 334953 c.616G>T p.D206Y missense 0.00000835●●●●●●
435. 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.