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. 29126630 c.3281G>T p.G1094V missense 0.00008290●●●●●●
4. 29126632 c.3283C>A p.H1095N 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. 29126444 c.3095C>T p.T1032I missense 0.00006625●●●●●●
15. 29126467 c.3118G>A p.V1040I 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. 29116266 c.1525G>A p.D509N missense 0.00004970●●●●●●
26. 29104699 c.862G>A p.V288I 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. 29102103 c.581C>T p.S194L missense 0.00003317●●●●●●
42. 29122723 c.2242G>A p.A748T missense 0.00003317●●●●●●
43. 29126642 c.3293C>G p.S1098C missense 0.00003316●●●●●●
44. 29122715 c.2234C>T p.T745M missense 0.00003315●●●●●●
45. 29125840 c.2491C>T p.L831F missense 0.00003315●●●●●●
46. 29116221 c.1480G>A p.D494N missense 0.00003314●●●●●●
47. 29126575 c.3226G>T p.V1076L missense 0.00003314●●●●●●
48. 29101128 c.445G>A p.V149I missense 0.00003314●●●●●●
49. 29118769 c.1707G>C p.Q569H missense 0.00003314●●●●●●
50. 29116222 c.1481A>C p.D494A 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>T p.G983V missense 0.00002541●●●●●●
59. 29126297 c.2948G>A p.G983D 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. 29101196 c.513G>T p.L171F missense 0.00002487●●●●●●
64. 29104828 c.991G>A p.E331K missense 0.00002487●●●●●●
65. 29099812 c.128A>G p.H43R missense 0.00002487●●●●●●
66. 29126615 c.3266G>T p.G1089V missense 0.00002487●●●●●●
67. 29099859 c.175C>T p.R59W missense 0.00002486●●●●●●
68. 29125754 c.2405A>G p.E802G missense 0.00002486●●●●●●
69. 29116303 c.1562A>G p.D521G missense 0.00002485●●●●●●
70. 29126432 c.3083G>A p.G1028D missense 0.00002485●●●●●●
71. 29118891 c.1829T>C p.L610P missense 0.00002485●●●●●●
72. 29118899 c.1837G>A p.A613T missense 0.00002485●●●●●●
73. 29104717 c.880A>G p.K294E missense 0.00002485●●●●●●
74. 29118882 c.1820A>G p.Y607C missense 0.00002485●●●●●●
75. 29101153 c.470C>T p.P157L 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. 29100905 c.356G>T p.R119L missense 0.00001683●●●●●●
83. 29100905 c.356G>A p.R119Q missense 0.00001683●●●●●●
84. 29100768 c.219A>G p.I73M 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. 29116353 c.1612C>G p.P538A missense 0.00001664●●●●●●
94. 29126042 c.2693A>G p.N898S missense 0.00001664●●●●●●
95. 29102049 c.527C>T p.T176I missense 0.00001664●●●●●●
96. 29104457 c.737G>A p.G246E missense 0.00001663●●●●●●
97. 29126059 c.2710C>G p.Q904E missense 0.00001662●●●●●●
98. 29104441 c.721G>A p.A241T missense 0.00001662●●●●●●
99. 29126065 c.2716A>G p.I906V missense 0.00001662●●●●●●
100. 29116182 c.1441A>G p.I481V missense 0.00001661●●●●●●
101. 29104433 c.713C>T p.T238I missense 0.00001661●●●●●●
102. 29099782 c.98A>G p.N33S missense 0.00001661●●●●●●
103. 29122733 c.2252C>T p.T751I 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. 29118806 c.1744G>A p.E582K missense 0.00001657●●●●●●
110. 29125783 c.2434G>T p.G812C missense 0.00001657●●●●●●
111. 29104814 c.977A>T p.D326V missense 0.00001657●●●●●●
112. 29125819 c.2470C>G p.R824G missense 0.00001657●●●●●●
113. 29099829 c.145C>T p.R49C missense 0.00001657●●●●●●
114. 29101119 c.436C>T p.R146C missense 0.00001657●●●●●●
115. 29104714 c.877A>T p.I293L missense 0.00001657●●●●●●
116. 29125783 c.2434G>A p.G812S missense 0.00001657●●●●●●
117. 29125829 c.2480A>G p.D827G missense 0.00001657●●●●●●
118. 29102199 c.677C>T p.T226I missense 0.00001657●●●●●●
119. 29101149 c.466G>A p.E156K missense 0.00001657●●●●●●
120. 29099860 c.176G>A p.R59Q missense 0.00001657●●●●●●
121. 29116245 c.1504C>T p.P502S missense 0.00001657●●●●●●
122. 29111007 c.1072G>A p.A358T missense 0.00001657●●●●●●
123. 29104798 c.961T>A p.F321I missense 0.00001657●●●●●●
124. 29104801 c.964C>T p.H322Y missense 0.00001657●●●●●●
125. 29104709 c.872C>T p.T291M missense 0.00001657●●●●●●
126. 29111125 c.1190T>C p.V397A missense 0.00001656●●●●●●
127. 29122560 c.2079A>C p.E693D missense 0.00001656●●●●●●
128. 29126462 c.3113T>C p.I1038T missense 0.00001656●●●●●●
129. 29122646 c.2165G>A p.R722K missense 0.00001656●●●●●●
130. 29122591 c.2110A>G p.I704V missense 0.00001656●●●●●●
131. 29126492 c.3143A>G p.E1048G missense 0.00001656●●●●●●
132. 29122516 c.2035G>A p.G679S missense 0.00001656●●●●●●
133. 29122607 c.2126A>G p.H709R missense 0.00001656●●●●●●
134. 29126458 c.3109A>G p.N1037D missense 0.00001656●●●●●●
135. 29122528 c.2047G>C p.G683R 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>A p.S960R missense 0.00000855●●●●●●
152. 29126264 c.2915C>T p.S972F missense 0.00000855●●●●●●
153. 29126234 c.2885T>C p.I962T missense 0.00000855●●●●●●
154. 29126229 c.2880C>G p.S960R 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. 29126314 c.2965G>C p.E989Q missense 0.00000840●●●●●●
164. 29121272 c.1996G>C p.D666H missense 0.00000840●●●●●●
165. 29126182 c.2833A>G p.T945A 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. 29098202 c.46A>G p.I16V missense 0.00000836●●●●●●
172. 29100782 c.233C>A p.A78E missense 0.00000836●●●●●●
173. 29122756 c.2275G>A p.G759R missense 0.00000836●●●●●●
174. 29116363 c.1622C>G p.A541G missense 0.00000836●●●●●●
175. 29126325 c.2976A>G p.I992M missense 0.00000836●●●●●●
176. 29104517 c.797A>G p.N266S missense 0.00000835●●●●●●
177. 29125967 c.2618A>C p.Q873P missense 0.00000834●●●●●●
178. 29125963 c.2614G>C p.E872Q missense 0.00000834●●●●●●
179. 29122750 c.2269A>T p.M757L missense 0.00000834●●●●●●
180. 29121257 c.1981G>A p.G661R missense 0.00000834●●●●●●
181. 29100790 c.241A>G p.R81G missense 0.00000834●●●●●●
182. 29116359 c.1618A>G p.M540V missense 0.00000834●●●●●●
183. 29104502 c.782G>T p.R261L missense 0.00000834●●●●●●
184. 29100793 c.244G>A p.G82R missense 0.00000834●●●●●●
185. 29104511 c.791A>G p.D264G missense 0.00000834●●●●●●
186. 29125966 c.2617C>A p.Q873K missense 0.00000834●●●●●●
187. 29121252 c.1976A>T p.N659I missense 0.00000833●●●●●●
188. 29125997 c.2648C>G p.S883C missense 0.00000833●●●●●●
189. 29125938 c.2589G>A p.M863I missense 0.00000833●●●●●●
190. 29104490 c.770A>G p.Q257R missense 0.00000833●●●●●●
191. 29126013 c.2664C>A p.F888L missense 0.00000833●●●●●●
192. 29126159 c.2810A>C p.E937A missense 0.00000833●●●●●●
193. 29126021 c.2672C>G p.P891R missense 0.00000833●●●●●●
194. 29125991 c.2642C>T p.T881I missense 0.00000833●●●●●●
195. 29125921 c.2572G>C p.A858P missense 0.00000833●●●●●●
196. 29125928 c.2579A>T p.E860V missense 0.00000833●●●●●●
197. 29125897 c.2548G>A p.E850K missense 0.00000833●●●●●●
198. 29100803 c.254T>A p.I85N missense 0.00000833●●●●●●
199. 29100871 c.322A>G p.T108A missense 0.00000833●●●●●●
200. 29126689 c.3340C>G p.Q1114E missense 0.00000833●●●●●●
201. 29116354 c.1613C>G p.P538R missense 0.00000832●●●●●●
202. 29116176 c.1435A>G p.K479E missense 0.00000832●●●●●●
203. 29100852 c.303A>G p.I101M missense 0.00000832●●●●●●
204. 29126027 c.2678C>T p.S893F missense 0.00000832●●●●●●
205. 29099775 c.91A>G p.T31A missense 0.00000831●●●●●●
206. 29126066 c.2717T>C p.I906T missense 0.00000831●●●●●●
207. 29098214 c.58G>A p.V20I missense 0.00000831●●●●●●
208. 29104442 c.722C>T p.A241V missense 0.00000831●●●●●●
209. 29126071 c.2722A>C p.T908P missense 0.00000831●●●●●●
210. 29125874 c.2525G>A p.G842D missense 0.00000831●●●●●●
211. 29104450 c.730G>C p.G244R missense 0.00000831●●●●●●
212. 29102058 c.536T>C p.M179T missense 0.00000831●●●●●●
213. 29126071 c.2722A>G p.T908A missense 0.00000831●●●●●●
214. 29099781 c.97A>C p.N33H missense 0.00000831●●●●●●
215. 29116346 c.1605C>G p.D535E missense 0.00000830●●●●●●
216. 29101074 c.391G>A p.A131T missense 0.00000830●●●●●●
217. 29125729 c.2380G>C p.D794H missense 0.00000830●●●●●●
218. 29126090 c.2741C>G p.S914C missense 0.00000830●●●●●●
219. 29102073 c.551C>T p.T184I missense 0.00000830●●●●●●
220. 29121222 c.1946G>T p.G649V missense 0.00000830●●●●●●
221. 29102069 c.547G>A p.A183T missense 0.00000830●●●●●●
222. 29126076 c.2727A>C p.E909D missense 0.00000830●●●●●●
223. 29126359 c.3010G>A p.G1004S missense 0.00000830●●●●●●
224. 29121228 c.1952T>C p.I651T missense 0.00000830●●●●●●
225. 29101074 c.391G>T p.A131S missense 0.00000830●●●●●●
226. 29116183 c.1442T>C p.I481T missense 0.00000830●●●●●●
227. 29126078 c.2729G>T p.R910I missense 0.00000830●●●●●●
228. 29122730 c.2249C>T p.A750V missense 0.00000830●●●●●●
229. 29125859 c.2510C>G p.A837G missense 0.00000830●●●●●●
230. 29104848 c.1011T>G p.I337M missense 0.00000830●●●●●●
231. 29126146 c.2797G>A p.V933M missense 0.00000830●●●●●●
232. 29098221 c.65G>A p.S22N missense 0.00000830●●●●●●
233. 29121230 c.1954G>C p.E652Q missense 0.00000830●●●●●●
234. 29116346 c.1605C>A p.D535E missense 0.00000830●●●●●●
235. 29126086 c.2737T>C p.S913P missense 0.00000830●●●●●●
236. 29110954 c.1019T>C p.V340A missense 0.00000830●●●●●●
237. 29101087 c.404G>C p.R135T missense 0.00000829●●●●●●
238. 29104678 c.841G>A p.V281I missense 0.00000829●●●●●●
239. 29125846 c.2497T>A p.F833I missense 0.00000829●●●●●●
240. 29121156 c.1880T>C p.L627S missense 0.00000829●●●●●●
241. 29118755 c.1693A>G p.R565G missense 0.00000829●●●●●●
242. 29099856 c.172C>T p.L58F missense 0.00000829●●●●●●
243. 29104805 c.968T>C p.I323T missense 0.00000829●●●●●●
244. 29126620 c.3271G>A p.E1091K missense 0.00000829●●●●●●
245. 29126378 c.3029A>T p.D1010V missense 0.00000829●●●●●●
246. 29121192 c.1916A>G p.K639R missense 0.00000829●●●●●●
247. 29121170 c.1894C>A p.L632M missense 0.00000829●●●●●●
248. 29110980 c.1045G>A p.D349N missense 0.00000829●●●●●●
249. 29099880 c.196A>G p.K66E missense 0.00000829●●●●●●
250. 29099869 c.185A>G p.E62G missense 0.00000829●●●●●●
251. 29104690 c.853C>G p.Q285E missense 0.00000829●●●●●●
252. 29101176 c.493G>T p.V165F missense 0.00000829●●●●●●
253. 29099820 c.136C>T p.R46W missense 0.00000829●●●●●●
254. 29121180 c.1904G>A p.C635Y missense 0.00000829●●●●●●
255. 29125751 c.2402A>G p.Q801R missense 0.00000829●●●●●●
256. 29126098 c.2749G>A p.A917T missense 0.00000829●●●●●●
257. 29122715 c.2234C>A p.T745K missense 0.00000829●●●●●●
258. 29104837 c.1000G>A p.V334M missense 0.00000829●●●●●●
259. 29104796 c.959A>G p.Y320C missense 0.00000829●●●●●●
260. 29104820 c.983A>G p.Q328R missense 0.00000829●●●●●●
261. 29126653 c.3304A>G p.T1102A missense 0.00000829●●●●●●
262. 29099796 c.112C>T p.L38F missense 0.00000829●●●●●●
263. 29102136 c.614C>T p.P205L missense 0.00000829●●●●●●
264. 29126386 c.3037T>C p.Y1013H missense 0.00000829●●●●●●
265. 29121204 c.1928G>T p.G643V missense 0.00000829●●●●●●
266. 29102084 c.562G>A p.E188K missense 0.00000829●●●●●●
267. 29099870 c.186G>T p.E62D missense 0.00000829●●●●●●
268. 29118769 c.1707G>T p.Q569H missense 0.00000829●●●●●●
269. 29099844 c.160G>A p.A54T missense 0.00000829●●●●●●
270. 29126107 c.2758G>A p.V920I missense 0.00000829●●●●●●
271. 29121186 c.1910G>A p.C637Y missense 0.00000829●●●●●●
272. 29099830 c.146G>A p.R49H missense 0.00000829●●●●●●
273. 29126369 c.3020A>G p.H1007R missense 0.00000829●●●●●●
274. 29104810 c.973A>G p.T325A missense 0.00000829●●●●●●
275. 29104691 c.854A>T p.Q285L missense 0.00000829●●●●●●
276. 29102139 c.617C>A p.A206D missense 0.00000829●●●●●●
277. 29125838 c.2489G>C p.G830A missense 0.00000829●●●●●●
278. 29118923 c.1861G>A p.A621T missense 0.00000829●●●●●●
279. 29111209 c.1274A>C p.H425P missense 0.00000829●●●●●●
280. 29101083 c.400G>A p.A134T missense 0.00000829●●●●●●
281. 29102135 c.613C>T p.P205S missense 0.00000829●●●●●●
282. 29126663 c.3314C>T p.T1105I missense 0.00000829●●●●●●
283. 29099854 c.170C>G p.A57G missense 0.00000829●●●●●●
284. 29099806 c.122A>T p.H41L missense 0.00000829●●●●●●
285. 29116323 c.1582C>G p.P528A missense 0.00000829●●●●●●
286. 29116207 c.1466T>C p.V489A missense 0.00000829●●●●●●
287. 29126370 c.3021T>A p.H1007Q missense 0.00000829●●●●●●
288. 29121210 c.1934C>A p.T645N missense 0.00000829●●●●●●
289. 29121189 c.1913G>A p.G638E missense 0.00000829●●●●●●
290. 29125766 c.2417C>T p.S806L missense 0.00000829●●●●●●
291. 29125817 c.2468A>G p.D823G missense 0.00000829●●●●●●
292. 29104835 c.998T>G p.I333S missense 0.00000829●●●●●●
293. 29099866 c.182G>T p.G61V missense 0.00000829●●●●●●
294. 29126131 c.2782A>G p.M928V missense 0.00000829●●●●●●
295. 29099874 c.190C>G p.L64V missense 0.00000829●●●●●●
296. 29102172 c.650C>G p.T217R missense 0.00000828●●●●●●
297. 29111187 c.1252G>A p.E418K missense 0.00000828●●●●●●
298. 29111058 c.1123A>G p.I375V missense 0.00000828●●●●●●
299. 29104786 c.949G>A p.E317K missense 0.00000828●●●●●●
300. 29118789 c.1727A>T p.Q576L missense 0.00000828●●●●●●
301. 29122529 c.2048G>A p.G683E missense 0.00000828●●●●●●
302. 29116236 c.1495C>A p.L499M missense 0.00000828●●●●●●
303. 29126575 c.3226G>C p.V1076L missense 0.00000828●●●●●●
304. 29116248 c.1507G>A p.V503M missense 0.00000828●●●●●●
305. 29126465 c.3116C>T p.A1039V missense 0.00000828●●●●●●
306. 29111019 c.1084A>G p.K362E missense 0.00000828●●●●●●
307. 29125808 c.2459A>C p.E820A missense 0.00000828●●●●●●
308. 29118861 c.1799G>A p.R600K missense 0.00000828●●●●●●
309. 29111140 c.1205A>G p.D402G missense 0.00000828●●●●●●
310. 29126423 c.3074C>T p.P1025L missense 0.00000828●●●●●●
311. 29122693 c.2212G>A p.A738T missense 0.00000828●●●●●●
312. 29122643 c.2162A>G p.H721R missense 0.00000828●●●●●●
313. 29104721 c.884T>C p.V295A missense 0.00000828●●●●●●
314. 29102180 c.658A>G p.I220V missense 0.00000828●●●●●●
315. 29126471 c.3122G>A p.G1041E missense 0.00000828●●●●●●
316. 29111191 c.1256A>T p.D419V missense 0.00000828●●●●●●
317. 29101146 c.463A>G p.N155D missense 0.00000828●●●●●●
318. 29118821 c.1759A>G p.T587A missense 0.00000828●●●●●●
319. 29111070 c.1135G>A p.V379M missense 0.00000828●●●●●●
320. 29116318 c.1577G>C p.S526T missense 0.00000828●●●●●●
321. 29118846 c.1784A>G p.H595R missense 0.00000828●●●●●●
322. 29116240 c.1499T>G p.I500R missense 0.00000828●●●●●●
323. 29116249 c.1508T>G p.V503G missense 0.00000828●●●●●●
324. 29111179 c.1244C>A p.A415D missense 0.00000828●●●●●●
325. 29126450 c.3101C>T p.A1034V missense 0.00000828●●●●●●
326. 29104700 c.863T>G p.V288G missense 0.00000828●●●●●●
327. 29126485 c.3136G>A p.V1046M missense 0.00000828●●●●●●
328. 29118893 c.1831G>A p.G611R missense 0.00000828●●●●●●
329. 29111150 c.1215C>G p.S405R missense 0.00000828●●●●●●
330. 29111032 c.1097G>A p.S366N missense 0.00000828●●●●●●
331. 29122696 c.2215A>G p.I739V missense 0.00000828●●●●●●
332. 29116284 c.1543G>T p.V515F missense 0.00000828●●●●●●
333. 29104745 c.908C>T p.S303F missense 0.00000828●●●●●●
334. 29104726 c.889G>A p.D297N missense 0.00000828●●●●●●
335. 29122544 c.2063G>A p.G688E missense 0.00000828●●●●●●
336. 29101141 c.458A>G p.N153S missense 0.00000828●●●●●●
337. 29111088 c.1153G>T p.G385C missense 0.00000828●●●●●●
338. 29125808 c.2459A>G p.E820G missense 0.00000828●●●●●●
339. 29111137 c.1202T>C p.M401T missense 0.00000828●●●●●●
340. 29126576 c.3227T>G p.V1076G missense 0.00000828●●●●●●
341. 29116261 c.1520G>T p.C507F missense 0.00000828●●●●●●
342. 29111041 c.1106A>T p.K369M missense 0.00000828●●●●●●
343. 29126435 c.3086T>C p.V1029A missense 0.00000828●●●●●●
344. 29111030 c.1095G>C p.R365S missense 0.00000828●●●●●●
345. 29118888 c.1826G>T p.G609V missense 0.00000828●●●●●●
346. 29118783 c.1721A>G p.D574G missense 0.00000828●●●●●●
347. 29111040 c.1105A>G p.K369E missense 0.00000828●●●●●●
348. 29122669 c.2188A>G p.T730A missense 0.00000828●●●●●●
349. 29116296 c.1555G>T p.D519Y missense 0.00000828●●●●●●
350. 29104768 c.931A>G p.T311A missense 0.00000828●●●●●●
351. 29122696 c.2215A>T p.I739F missense 0.00000828●●●●●●
352. 29126561 c.3212C>G p.A1071G missense 0.00000828●●●●●●
353. 29122547 c.2066G>T p.G689V missense 0.00000828●●●●●●
354. 29118857 c.1795T>C p.C599R missense 0.00000828●●●●●●
355. 29122623 c.2142G>T p.M714I missense 0.00000828●●●●●●
356. 29116264 c.1523A>T p.H508L missense 0.00000828●●●●●●
357. 29118876 c.1814A>T p.D605V 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.