DSG2 non-truncating variants in ExAC

DSG2 gene summary
DSG2 variants in DCM

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