DSG2 protein-altering variants in ExAC


The table below lists the DSG2 protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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 frequencyPopulations*
1. 29104436 c.716T>C p.V239A missense 0.00009137
2. 29099782 c.98A>C p.N33T missense 0.00009135
3. 29126632 c.3283C>A p.H1095N missense 0.00008290
4. 29126630 c.3281G>T p.G1094V missense 0.00008290
5. 29126308 c.2959G>T p.V987F missense 0.00007586
6. 29125946 c.2597C>T p.A866V missense 0.00007501
7. 29118750 c.1688T>G p.L563R missense 0.00007460
8. 29101169 c.486T>A p.D162E missense 0.00007457
9. 29104712 c.875G>A p.R292H missense 0.00007455
10. 29111178 c.1243G>A p.A415T missense 0.00007454
11. 29122673 c.2192A>C p.Q731P missense 0.00007452
12. 29100818 c.269C>T p.T90I missense 0.00006659
13. 29116333 c.1592T>G p.F531C missense 0.00006633
14. 29126467 c.3118G>A p.V1040I missense 0.00006625
15. 29126444 c.3095C>T p.T1032I missense 0.00006625
16. 29115370 c.1418C>T p.S473L missense 0.00006208
17. 29104426 c.706A>G p.T236A missense 0.00005813
18. 29101113 c.430G>A p.E144K missense 0.00005800
19. 29122786 c.2305G>A p.E769K missense 0.00005188
20. 29104526 c.806T>C p.I269T missense 0.00005018
21. 29102067 c.545A>G p.N182S missense 0.00004979
22. 29099892 c.208A>G p.I70V missense 0.00004974
23. 29102123 c.601G>A p.V201I missense 0.00004973
24. 29126389 c.3040G>A p.V1014I missense 0.00004972
25. 29104699 c.862G>A p.V288I missense 0.00004970
26. 29116266 c.1525G>A p.D509N missense 0.00004970
27. 29115244 c.1292T>C p.L431S missense 0.00004848
28. 29125987 c.2638A>C p.N880H missense 0.00004167
29. 29126039 c.2690C>A p.A897D missense 0.00004161
30. 29126388 c.3039C>A p.Tyr1013Ter nonsense 0.00004144
31. 29125820 c.2471G>A p.R824H missense 0.00004142
32. 29116219 c.1478A>G p.N493S missense 0.00004142
33. 29126404 c.3055_3058delAGAG p.Glu1020AlafsTer18 frameshift 0.00004142
34. 29118854 c.1792G>A p.G598S missense 0.00004141
35. 29122514 c.2033G>C p.G678A missense 0.00004141
36. 29122577 c.2096G>T p.S699I missense 0.00004140
37. 29122809 c.2328C>A p.F776L missense 0.00003663
38. 29116384 c.1643G>A p.R548H missense 0.00003448
39. 29104546 c.826_828delGTG p.Val276del inframe 0.00003364
40. 29115256 c.1304A>G p.D435G missense 0.00003346
41. 29125709 c.2360A>G p.D787G missense 0.00003326
42. 29126345 c.2996C>T p.S999L missense 0.00003324
43. 29102103 c.581C>T p.S194L missense 0.00003317
44. 29122723 c.2242G>A p.A748T missense 0.00003317
45. 29126642 c.3293C>G p.S1098C missense 0.00003316
46. 29125840 c.2491C>T p.L831F missense 0.00003315
47. 29122715 c.2234C>T p.T745M missense 0.00003315
48. 29126575 c.3226G>T p.V1076L missense 0.00003314
49. 29116222 c.1481A>C p.D494A missense 0.00003314
50. 29101128 c.445G>A p.V149I missense 0.00003314
51. 29118769 c.1707G>C p.Q569H missense 0.00003314
52. 29116221 c.1480G>A p.D494N missense 0.00003314
53. 29122565 c.2084C>T p.T695M missense 0.00003313
54. 29104711 c.874C>T p.R292C missense 0.00003313
55. 29111139 c.1204G>A p.D402N missense 0.00003313
56. 29126461 c.3112A>G p.I1038V missense 0.00003312
57. 29111130 c.1195G>A p.E399K missense 0.00003312
58. 29115269 c.1317_1318delTG p.Val440GlyfsTer6 frameshift 0.00003173
59. 29115233 c.1281A>T p.R427S missense 0.00002648
60. 29126246 c.2897G>C p.R966T missense 0.00002569
61. 29126297 c.2948G>A p.G983D missense 0.00002541
62. 29126297 c.2948G>T p.G983V missense 0.00002541
63. 29101207 c.523+1G>C essential splice site 0.00002525
64. 29100904 c.355C>T p.R119X nonsense 0.00002524
65. 29125972 c.2623A>G p.M875V missense 0.00002501
66. 29125995 c.2646_2648delCTC p.Ser884del inframe 0.00002500
67. 29125859 c.2510C>A p.A837D missense 0.00002490
68. 29104828 c.991G>A p.E331K missense 0.00002487
69. 29101196 c.513G>T p.L171F missense 0.00002487
70. 29099812 c.128A>G p.H43R missense 0.00002487
71. 29126615 c.3266G>T p.G1089V missense 0.00002487
72. 29099859 c.175C>T p.R59W missense 0.00002486
73. 29125754 c.2405A>G p.E802G missense 0.00002486
74. 29116303 c.1562A>G p.D521G missense 0.00002485
75. 29118882 c.1820A>G p.Y607C missense 0.00002485
76. 29101153 c.470C>T p.P157L missense 0.00002485
77. 29118899 c.1837G>A p.A613T missense 0.00002485
78. 29126432 c.3083G>A p.G1028D missense 0.00002485
79. 29118891 c.1829T>C p.L610P missense 0.00002485
80. 29104717 c.880A>G p.K294E missense 0.00002485
81. 29122592 c.2111T>C p.I704T missense 0.00002484
82. 29122660 c.2179G>A p.G727S missense 0.00002484
83. 29126490 c.3141_3144delAGAA p.Arg1049PhefsTer2 frameshift 0.00002484
84. 29115349 c.1397C>T p.T466I missense 0.00001761
85. 29126218 c.2869C>G p.Q957E missense 0.00001704
86. 29126290 c.2941A>G p.N981D missense 0.00001698
87. 29126302 c.2953G>A p.V985I missense 0.00001690
88. 29100905 c.356G>A p.R119Q missense 0.00001683
89. 29100768 c.219A>G p.I73M missense 0.00001683
90. 29100905 c.356G>T p.R119L missense 0.00001683
91. 29100769 c.220C>T p.H74Y missense 0.00001682
92. 29122754 c.2273C>T p.A758V missense 0.00001671
93. 29126702 c.3353C>T p.S1118F missense 0.00001669
94. 29125965 c.2616G>T p.E872D missense 0.00001667
95. 29100794 c.245G>T p.G82V missense 0.00001667
96. 29125997 c.2648C>T p.S883F missense 0.00001666
97. 29125898 c.2549delA p.Ile851LeufsTer13 frameshift 0.00001666
98. 29126030 c.2681T>G p.L894W missense 0.00001665
99. 29100847 c.298G>C p.G100R missense 0.00001665
100. 29116353 c.1612C>G p.P538A missense 0.00001664
101. 29126042 c.2693A>G p.N898S missense 0.00001664
102. 29102049 c.527C>T p.T176I missense 0.00001664
103. 29104457 c.737G>A p.G246E missense 0.00001663
104. 29104441 c.721G>A p.A241T missense 0.00001662
105. 29126065 c.2716A>G p.I906V missense 0.00001662
106. 29126059 c.2710C>G p.Q904E missense 0.00001662
107. 29104433 c.713C>T p.T238I missense 0.00001661
108. 29122733 c.2252C>T p.T751I missense 0.00001661
109. 29116182 c.1441A>G p.I481V missense 0.00001661
110. 29099782 c.98A>G p.N33S missense 0.00001661
111. 29121225 c.1949C>T p.T650I missense 0.00001660
112. 29126093 c.2744G>C p.R915T missense 0.00001659
113. 29126665 c.3316A>G p.R1106G missense 0.00001659
114. 29126107 c.2758G>T p.V920L missense 0.00001658
115. 29121161 c.1885C>T p.P629S missense 0.00001658
116. 29125819 c.2470C>G p.R824G missense 0.00001657
117. 29099829 c.145C>T p.R49C missense 0.00001657
118. 29101176 c.493_494insT p.G166Wfs*4 frameshift 0.00001657
119. 29118861 c.1799delG p.Glu601LysfsTer18 frameshift 0.00001657
120. 29111007 c.1072G>A p.A358T missense 0.00001657
121. 29101149 c.466G>A p.E156K missense 0.00001657
122. 29125829 c.2480A>G p.D827G missense 0.00001657
123. 29101119 c.436C>T p.R146C missense 0.00001657
124. 29104798 c.961T>A p.F321I missense 0.00001657
125. 29104801 c.964C>T p.H322Y missense 0.00001657
126. 29099860 c.176G>A p.R59Q missense 0.00001657
127. 29102199 c.677C>T p.T226I missense 0.00001657
128. 29125783 c.2434G>T p.G812C missense 0.00001657
129. 29104714 c.877A>T p.I293L missense 0.00001657
130. 29104709 c.872C>T p.T291M missense 0.00001657
131. 29104814 c.977A>T p.D326V missense 0.00001657
132. 29125783 c.2434G>A p.G812S missense 0.00001657
133. 29118806 c.1744G>A p.E582K missense 0.00001657
134. 29116245 c.1504C>T p.P502S missense 0.00001657
135. 29122560 c.2079A>C p.E693D missense 0.00001656
136. 29122607 c.2126A>G p.H709R missense 0.00001656
137. 29122516 c.2035G>A p.G679S missense 0.00001656
138. 29122646 c.2165G>A p.R722K missense 0.00001656
139. 29122528 c.2047G>C p.G683R missense 0.00001656
140. 29126492 c.3143A>G p.E1048G missense 0.00001656
141. 29126458 c.3109A>G p.N1037D missense 0.00001656
142. 29126462 c.3113T>C p.I1038T missense 0.00001656
143. 29111125 c.1190T>C p.V397A missense 0.00001656
144. 29122591 c.2110A>G p.I704V missense 0.00001656
145. 29115250 c.1298A>G p.D433G missense 0.00001159
146. 29115255 c.1303G>C p.D435H missense 0.00001123
147. 29115277 c.1325C>A p.S442Y missense 0.00001023
148. 29115286 c.1334C>A p.S445Y missense 0.00000991
149. 29115295 c.1343A>G p.K448R missense 0.00000969
150. 29115301 c.1349C>T p.A450V missense 0.00000951
151. 29115307 c.1355T>C p.L452P missense 0.00000932
152. 29115315 c.1363T>C p.F455L missense 0.00000912
153. 29115375 c.1423G>C p.D475H missense 0.00000893
154. 29115340 c.1388G>T p.G463V missense 0.00000884
155. 29122789 c.2308G>A p.E770K missense 0.00000873
156. 29116384 c.1643G>T p.R548L missense 0.00000862
157. 29116383 c.1642C>T p.R548C missense 0.00000860
158. 29125918 c.2569C>T p.P857S missense 0.00000857
159. 29126257 c.2908C>T p.P970S missense 0.00000856
160. 29126229 c.2880C>A p.S960R missense 0.00000855
161. 29126264 c.2915C>T p.S972F missense 0.00000855
162. 29126229 c.2880C>G p.S960R missense 0.00000855
163. 29126234 c.2885T>C p.I962T missense 0.00000855
164. 29116377 c.1636A>G p.I546V missense 0.00000851
165. 29126212 c.2863C>T p.P955S missense 0.00000850
166. 29126293 c.2944G>A p.E982K missense 0.00000848
167. 29126300 c.2951C>A p.T984K missense 0.00000846
168. 29126303 c.2954T>G p.V985G missense 0.00000845
169. 29122771 c.2290G>A p.A764T missense 0.00000845
170. 29122768 c.2287G>A p.A763T missense 0.00000843
171. 29116164 c.1424-1G>T essential splice site 0.00000842
172. 29101207 c.523+1G>T essential splice site 0.00000842
173. 29126185 c.2836A>G p.M946V missense 0.00000841
174. 29126182 c.2833A>G p.T945A missense 0.00000840
175. 29126314 c.2965G>C p.E989Q missense 0.00000840
176. 29121272 c.1996G>C p.D666H missense 0.00000840
177. 29104540 c.820A>G p.N274D missense 0.00000839
178. 29116365 c.1624G>C p.E542Q missense 0.00000838
179. 29125690 c.2341G>T p.A781S missense 0.00000838
180. 29126174 c.2825C>T p.T942I missense 0.00000838
181. 29101206 c.523C>T p.H175Y missense 0.00000837
182. 29098202 c.46A>G p.I16V missense 0.00000836
183. 29116363 c.1622C>G p.A541G missense 0.00000836
184. 29126325 c.2976A>G p.I992M missense 0.00000836
185. 29122756 c.2275G>A p.G759R missense 0.00000836
186. 29100782 c.233C>A p.A78E missense 0.00000836
187. 29104517 c.797A>G p.N266S missense 0.00000835
188. 29100790 c.241A>G p.R81G missense 0.00000834
189. 29125967 c.2618delA p.Thr874LeufsTer29 frameshift 0.00000834
190. 29104502 c.782G>T p.R261L missense 0.00000834
191. 29100793 c.244G>A p.G82R missense 0.00000834
192. 29116359 c.1618A>G p.M540V missense 0.00000834
193. 29122750 c.2269A>T p.M757L missense 0.00000834
194. 29125966 c.2617C>A p.Q873K missense 0.00000834
195. 29104511 c.791A>G p.D264G missense 0.00000834
196. 29125967 c.2618A>C p.Q873P missense 0.00000834
197. 29121257 c.1981G>A p.G661R missense 0.00000834
198. 29125963 c.2614G>C p.E872Q missense 0.00000834
199. 29099765 c.82-1G>A essential splice site 0.00000834
200. 29126021 c.2672C>G p.P891R missense 0.00000833
201. 29125991 c.2642C>T p.T881I missense 0.00000833
202. 29125921 c.2572G>C p.A858P missense 0.00000833
203. 29121252 c.1976A>T p.N659I missense 0.00000833
204. 29125997 c.2648C>G p.S883C missense 0.00000833
205. 29126689 c.3340C>G p.Q1114E missense 0.00000833
206. 29125928 c.2579A>T p.E860V missense 0.00000833
207. 29100803 c.254T>A p.I85N missense 0.00000833
208. 29126159 c.2810A>C p.E937A missense 0.00000833
209. 29125938 c.2589G>A p.M863I missense 0.00000833
210. 29100871 c.322A>G p.T108A missense 0.00000833
211. 29125897 c.2548G>A p.E850K missense 0.00000833
212. 29126013 c.2664C>A p.F888L missense 0.00000833
213. 29104490 c.770A>G p.Q257R missense 0.00000833
214. 29116354 c.1613C>G p.P538R missense 0.00000832
215. 29099775 c.91delA p.Thr31GlnfsTer14 frameshift 0.00000832
216. 29100820 c.271G>T p.G91X nonsense 0.00000832
217. 29126027 c.2678C>T p.S893F missense 0.00000832
218. 29100852 c.303A>G p.I101M missense 0.00000832
219. 29116176 c.1435A>G p.K479E missense 0.00000832
220. 29104665 c.829-1_839delGCTTGAAGGGAT essential splice site 0.00000831
221. 29126071 c.2722A>C p.T908P missense 0.00000831
222. 29104442 c.722C>T p.A241V missense 0.00000831
223. 29126071 c.2722A>G p.T908A missense 0.00000831
224. 29125874 c.2525G>A p.G842D missense 0.00000831
225. 29098214 c.58G>A p.V20I missense 0.00000831
226. 29110949 c.1015-1delG essential splice site 0.00000831
227. 29104450 c.730G>C p.G244R missense 0.00000831
228. 29099775 c.91A>G p.T31A missense 0.00000831
229. 29102058 c.536T>C p.M179T missense 0.00000831
230. 29126066 c.2717T>C p.I906T missense 0.00000831
231. 29099781 c.97A>C p.N33H missense 0.00000831
232. 29125729 c.2380G>C p.D794H missense 0.00000830
233. 29101074 c.391G>A p.A131T missense 0.00000830
234. 29102069 c.547G>A p.A183T missense 0.00000830
235. 29104848 c.1011T>G p.I337M missense 0.00000830
236. 29122730 c.2249C>T p.A750V missense 0.00000830
237. 29102073 c.551C>T p.T184I missense 0.00000830
238. 29126086 c.2737T>C p.S913P missense 0.00000830
239. 29121230 c.1954G>C p.E652Q missense 0.00000830
240. 29126359 c.3010G>A p.G1004S missense 0.00000830
241. 29110954 c.1019T>C p.V340A missense 0.00000830
242. 29125859 c.2510C>G p.A837G missense 0.00000830
243. 29116183 c.1442T>C p.I481T missense 0.00000830
244. 29126090 c.2741C>G p.S914C missense 0.00000830
245. 29118943 c.1879+2T>C essential splice site 0.00000830
246. 29101074 c.391G>T p.A131S missense 0.00000830
247. 29116346 c.1605C>G p.D535E missense 0.00000830
248. 29121222 c.1946G>T p.G649V missense 0.00000830
249. 29126076 c.2727A>C p.E909D missense 0.00000830
250. 29098221 c.65G>A p.S22N missense 0.00000830
251. 29116346 c.1605C>A p.D535E missense 0.00000830
252. 29110951 c.1016delA p.Val340Ter frameshift 0.00000830
253. 29126078 c.2729G>T p.R910I missense 0.00000830
254. 29121228 c.1952T>C p.I651T missense 0.00000830
255. 29126146 c.2797G>A p.V933M missense 0.00000830
256. 29104796 c.959A>G p.Y320C missense 0.00000829
257. 29126107 c.2758G>A p.V920I missense 0.00000829
258. 29102135 c.613C>T p.P205S missense 0.00000829
259. 29126653 c.3304A>G p.T1102A missense 0.00000829
260. 29118755 c.1693A>G p.R565G missense 0.00000829
261. 29104690 c.853C>G p.Q285E missense 0.00000829
262. 29099820 c.136C>T p.R46W missense 0.00000829
263. 29126663 c.3314C>T p.T1105I missense 0.00000829
264. 29099869 c.185A>G p.E62G missense 0.00000829
265. 29104805 c.968T>C p.I323T missense 0.00000829
266. 29121204 c.1928G>T p.G643V missense 0.00000829
267. 29126378 c.3029A>T p.D1010V missense 0.00000829
268. 29116207 c.1466T>C p.V489A missense 0.00000829
269. 29101087 c.404G>C p.R135T missense 0.00000829
270. 29111209 c.1274A>C p.H425P missense 0.00000829
271. 29102136 c.614C>T p.P205L missense 0.00000829
272. 29101176 c.493G>T p.V165F missense 0.00000829
273. 29121186 c.1910G>A p.C637Y missense 0.00000829
274. 29104810 c.973A>G p.T325A missense 0.00000829
275. 29104678 c.841G>A p.V281I missense 0.00000829
276. 29118769 c.1707G>T p.Q569H missense 0.00000829
277. 29104820 c.983A>G p.Q328R missense 0.00000829
278. 29099830 c.146G>A p.R49H missense 0.00000829
279. 29126131 c.2782A>G p.M928V missense 0.00000829
280. 29102213 c.690+1G>A essential splice site 0.00000829
281. 29099870 c.186G>T p.E62D missense 0.00000829
282. 29126386 c.3037T>C p.Y1013H missense 0.00000829
283. 29099844 c.160G>A p.A54T missense 0.00000829
284. 29125751 c.2402A>G p.Q801R missense 0.00000829
285. 29102084 c.562G>A p.E188K missense 0.00000829
286. 29121210 c.1934C>A p.T645N missense 0.00000829
287. 29118923 c.1861G>A p.A621T missense 0.00000829
288. 29121189 c.1913G>A p.G638E missense 0.00000829
289. 29126369 c.3020A>G p.H1007R missense 0.00000829
290. 29099796 c.112C>T p.L38F missense 0.00000829
291. 29104835 c.998T>G p.I333S missense 0.00000829
292. 29122715 c.2234C>A p.T745K missense 0.00000829
293. 29121170 c.1894C>A p.L632M missense 0.00000829
294. 29099874 c.190C>G p.L64V missense 0.00000829
295. 29125838 c.2489G>C p.G830A missense 0.00000829
296. 29099854 c.170C>G p.A57G missense 0.00000829
297. 29102139 c.617C>A p.A206D missense 0.00000829
298. 29121156 c.1880T>C p.L627S missense 0.00000829
299. 29110980 c.1045G>A p.D349N missense 0.00000829
300. 29126620 c.3271G>A p.E1091K missense 0.00000829
301. 29099866 c.182G>T p.G61V missense 0.00000829
302. 29125817 c.2468A>G p.D823G missense 0.00000829
303. 29104691 c.854A>T p.Q285L missense 0.00000829
304. 29116323 c.1582C>G p.P528A missense 0.00000829
305. 29126098 c.2749G>A p.A917T missense 0.00000829
306. 29121192 c.1916A>G p.K639R missense 0.00000829
307. 29126370 c.3021T>A p.H1007Q missense 0.00000829
308. 29099806 c.122A>T p.H41L missense 0.00000829
309. 29101083 c.400G>A p.A134T missense 0.00000829
310. 29104837 c.1000G>A p.V334M missense 0.00000829
311. 29099880 c.196A>G p.K66E missense 0.00000829
312. 29125846 c.2497T>A p.F833I missense 0.00000829
313. 29099856 c.172C>T p.L58F missense 0.00000829
314. 29125766 c.2417C>T p.S806L missense 0.00000829
315. 29121180 c.1904G>A p.C635Y missense 0.00000829
316. 29118861 c.1799G>A p.R600K missense 0.00000828
317. 29122696 c.2215A>T p.I739F missense 0.00000828
318. 29111179 c.1244C>A p.A415D missense 0.00000828
319. 29111150 c.1215C>G p.S405R missense 0.00000828
320. 29126471 c.3122G>A p.G1041E missense 0.00000828
321. 29116264 c.1523A>T p.H508L missense 0.00000828
322. 29111070 c.1135G>A p.V379M missense 0.00000828
323. 29118893 c.1831G>A p.G611R missense 0.00000828
324. 29118846 c.1784A>G p.H595R missense 0.00000828
325. 29118821 c.1759A>G p.T587A missense 0.00000828
326. 29104726 c.889G>A p.D297N missense 0.00000828
327. 29104745 c.908C>T p.S303F missense 0.00000828
328. 29122669 c.2188A>G p.T730A missense 0.00000828
329. 29104700 c.863T>G p.V288G missense 0.00000828
330. 29122547 c.2066G>T p.G689V missense 0.00000828
331. 29102180 c.658A>G p.I220V missense 0.00000828
332. 29111137 c.1202T>C p.M401T missense 0.00000828
333. 29126450 c.3101C>T p.A1034V missense 0.00000828
334. 29125808 c.2459A>C p.E820A missense 0.00000828
335. 29111032 c.1097G>A p.S366N missense 0.00000828
336. 29116248 c.1507G>A p.V503M missense 0.00000828
337. 29104739 c.902delT p.Ile301LysfsTer23 frameshift 0.00000828
338. 29122623 c.2142G>T p.M714I missense 0.00000828
339. 29111088 c.1153G>T p.G385C missense 0.00000828
340. 29111030 c.1095G>C p.R365S missense 0.00000828
341. 29101146 c.463A>G p.N155D missense 0.00000828
342. 29118876 c.1814A>T p.D605V missense 0.00000828
343. 29126465 c.3116C>T p.A1039V missense 0.00000828
344. 29116236 c.1495C>A p.L499M missense 0.00000828
345. 29122693 c.2212G>A p.A738T missense 0.00000828
346. 29104768 c.931A>G p.T311A missense 0.00000828
347. 29126576 c.3227T>G p.V1076G missense 0.00000828
348. 29125808 c.2459A>G p.E820G missense 0.00000828
349. 29116318 c.1577G>C p.S526T missense 0.00000828
350. 29111040 c.1105A>G p.K369E missense 0.00000828
351. 29116249 c.1508T>G p.V503G missense 0.00000828
352. 29118888 c.1826G>T p.G609V missense 0.00000828
353. 29122643 c.2162A>G p.H721R missense 0.00000828
354. 29118783 c.1721A>G p.D574G missense 0.00000828
355. 29111041 c.1106A>T p.K369M missense 0.00000828
356. 29122529 c.2048G>A p.G683E missense 0.00000828
357. 29111187 c.1252G>A p.E418K missense 0.00000828
358. 29126561 c.3212C>G p.A1071G missense 0.00000828
359. 29126435 c.3086T>C p.V1029A missense 0.00000828
360. 29101141 c.458A>G p.N153S missense 0.00000828
361. 29116284 c.1543G>T p.V515F missense 0.00000828
362. 29116240 c.1499T>G p.I500R missense 0.00000828
363. 29118826 c.1764_1765delCA p.Thr589SerfsTer3 frameshift 0.00000828
364. 29104786 c.949G>A p.E317K missense 0.00000828
365. 29122696 c.2215A>G p.I739V missense 0.00000828
366. 29118857 c.1795T>C p.C599R missense 0.00000828
367. 29111019 c.1084A>G p.K362E missense 0.00000828
368. 29111140 c.1205A>G p.D402G missense 0.00000828
369. 29116261 c.1520G>T p.C507F missense 0.00000828
370. 29126423 c.3074C>T p.P1025L missense 0.00000828
371. 29111058 c.1123A>G p.I375V missense 0.00000828
372. 29118789 c.1727A>T p.Q576L missense 0.00000828
373. 29104721 c.884T>C p.V295A missense 0.00000828
374. 29126485 c.3136G>A p.V1046M missense 0.00000828
375. 29111191 c.1256A>T p.D419V missense 0.00000828
376. 29126575 c.3226G>C p.V1076L missense 0.00000828
377. 29122544 c.2063G>A p.G688E missense 0.00000828
378. 29102172 c.650C>G p.T217R missense 0.00000828
379. 29116296 c.1555G>T p.D519Y missense 0.00000828
380. 29118833 c.1771_1772delTG p.Cys591Ter frameshift 0.00000828
381. 29111023 c.1088C>A p.S363X nonsense 0.00000828

* 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.