DSG2 variants in ExAC

DSG2 gene summary
DSG2 variants in DCM

The table below lists the DSG2 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. 29078258 c.44T>A p.L15Q missense 0.00214900●●●●●●
2. 29098199 c.46-3C>T splice site 0.00000838●●●●●●
3. 29098202 c.46A>G p.I16V missense 0.00000836●●●●●●
4. 29098211 c.55A>G p.N19D missense 0.00019135●●●●●●
5. 29098214 c.58G>A p.V20I missense 0.00000831●●●●●●
6. 29098221 c.65G>A p.S22N missense 0.00000830●●●●●●
7. 29098244 c.81+7A>G splice site 0.00000830●●●●●●
8. 29099763 c.82-3T>C splice site 0.00000835●●●●●●
9. 29099765 c.82-1G>A essential splice site 0.00000834●●●●●●
10. 29099768 c.84C>G splice site 0.00000833●●●●●●
11. 29099775 c.91A>G p.T31A missense 0.00000831●●●●●●
12. 29099775 c.91delA p.Thr31GlnfsTer14 frameshift 0.00000832●●●●●●
13. 29099781 c.97A>C p.N33H missense 0.00000831●●●●●●
14. 29099782 c.98A>C p.N33T missense 0.00009135●●●●●●
15. 29099782 c.98A>G p.N33S missense 0.00001661●●●●●●
16. 29099796 c.112C>T p.L38F missense 0.00000829●●●●●●
17. 29099805 c.121C>A p.H41N missense 0.00013265●●●●●●
18. 29099806 c.122A>T p.H41L missense 0.00000829●●●●●●
19. 29099812 c.128A>G p.H43R missense 0.00002487●●●●●●
20. 29099820 c.136C>T p.R46W missense 0.00000829●●●●●●
21. 29099829 c.145C>T p.R49C missense 0.00001657●●●●●●
22. 29099830 c.146G>A p.R49H missense 0.00000829●●●●●●
23. 29099844 c.160G>A p.A54T missense 0.00000829●●●●●●
24. 29099850 c.166G>A p.V56M missense 0.00187278●●●●●●
25. 29099854 c.170C>G p.A57G missense 0.00000829●●●●●●
26. 29099856 c.172C>T p.L58F missense 0.00000829●●●●●●
27. 29099859 c.175C>T p.R59W missense 0.00002486●●●●●●
28. 29099860 c.176G>A p.R59Q missense 0.00001657●●●●●●
29. 29099866 c.182G>T p.G61V missense 0.00000829●●●●●●
30. 29099869 c.185A>G p.E62G missense 0.00000829●●●●●●
31. 29099870 c.186G>T p.E62D missense 0.00000829●●●●●●
32. 29099874 c.190C>G p.L64V missense 0.00000829●●●●●●
33. 29099880 c.196A>G p.K66E missense 0.00000829●●●●●●
34. 29099892 c.208A>G p.I70V missense 0.00004974●●●●●●
35. 29100759 c.217-7A>G splice site 0.00000847●●●●●●
36. 29100761 c.217-5G>T splice site 0.00362092●●●●●●
37. 29100768 c.219A>G p.I73M missense 0.00001683●●●●●●
38. 29100769 c.220C>T p.H74Y missense 0.00001682●●●●●●
39. 29100770 c.221A>G p.H74R missense 0.00024359●●●●●●
40. 29100782 c.233C>A p.A78E missense 0.00000836●●●●●●
41. 29100790 c.241A>G p.R81G missense 0.00000834●●●●●●
42. 29100793 c.244G>A p.G82R missense 0.00000834●●●●●●
43. 29100794 c.245G>T p.G82V missense 0.00001667●●●●●●
44. 29100803 c.254T>A p.I85N missense 0.00000833●●●●●●
45. 29100815 c.266A>G p.Y89C missense 0.00104900●●●●●●
46. 29100818 c.269C>T p.T90I missense 0.00006659●●●●●●
47. 29100820 c.271G>T p.G91X nonsense 0.00000832●●●●●●
48. 29100847 c.298G>C p.G100R missense 0.00001665●●●●●●
49. 29100852 c.303A>G p.I101M missense 0.00000832●●●●●●
50. 29100871 c.322A>G p.T108A missense 0.00000833●●●●●●
51. 29100904 c.355C>T p.R119X nonsense 0.00002524●●●●●●
52. 29100905 c.356G>A p.R119Q missense 0.00001683●●●●●●
53. 29100905 c.356G>T p.R119L missense 0.00001683●●●●●●
54. 29100933 c.378+6A>T splice site 0.00002596●●●●●●
55. 29101058 c.379-4T>C splice site 0.00001666●●●●●●
56. 29101059 c.379-3C>T splice site 0.00002498●●●●●●
57. 29101074 c.391G>A p.A131T missense 0.00000830●●●●●●
58. 29101074 c.391G>T p.A131S missense 0.00000830●●●●●●
59. 29101083 c.400G>A p.A134T missense 0.00000829●●●●●●
60. 29101087 c.404G>C p.R135T missense 0.00000829●●●●●●
61. 29101113 c.430G>A p.E144K missense 0.00005800●●●●●●
62. 29101119 c.436C>T p.R146C missense 0.00001657●●●●●●
63. 29101120 c.437G>T p.R146L missense 0.00030653●●●●●●
64. 29101128 c.445G>A p.V149I missense 0.00003314●●●●●●
65. 29101141 c.458A>G p.N153S missense 0.00000828●●●●●●
66. 29101146 c.463A>G p.N155D missense 0.00000828●●●●●●
67. 29101149 c.466G>A p.E156K missense 0.00001657●●●●●●
68. 29101153 c.470C>T p.P157L missense 0.00002485●●●●●●
69. 29101156 c.473T>G p.V158G missense 0.00537697●●●●●●
70. 29101169 c.486T>A p.D162E missense 0.00007457●●●●●●
71. 29101176 c.493_494insT p.G166Wfs*4 frameshift 0.00001657●●●●●●
72. 29101176 c.493G>T p.V165F missense 0.00000829●●●●●●
73. 29101196 c.513G>T p.L171F missense 0.00002487●●●●●●
74. 29101206 c.523C>T p.H175Y missense 0.00000837●●●●●●
75. 29101207 c.523+1G>C essential splice site 0.00002525●●●●●●
76. 29101207 c.523+1G>T essential splice site 0.00000842●●●●●●
77. 29101210 c.523+4A>T splice site 0.00000869●●●●●●
78. 29102037 c.524-9T>A splice site 0.00681605●●●●●●
79. 29102049 c.527C>T p.T176I missense 0.00001664●●●●●●
80. 29102058 c.536T>C p.M179T missense 0.00000831●●●●●●
81. 29102067 c.545A>G p.N182S missense 0.00004979●●●●●●
82. 29102069 c.547G>A p.A183T missense 0.00000830●●●●●●
83. 29102073 c.551C>T p.T184I missense 0.00000830●●●●●●
84. 29102084 c.562G>A p.E188K missense 0.00000829●●●●●●
85. 29102103 c.581C>T p.S194L missense 0.00003317●●●●●●
86. 29102123 c.601G>A p.V201I missense 0.00004973●●●●●●
87. 29102135 c.613C>T p.P205S missense 0.00000829●●●●●●
88. 29102136 c.614C>T p.P205L missense 0.00000829●●●●●●
89. 29102139 c.617C>A p.A206D missense 0.00000829●●●●●●
90. 29102172 c.650C>G p.T217R missense 0.00000828●●●●●●
91. 29102180 c.658A>G p.I220V missense 0.00000828●●●●●●
92. 29102199 c.677C>T p.T226I missense 0.00001657●●●●●●
93. 29102212 c.690G>A splice site 0.00001658●●●●●●
94. 29102213 c.690+1G>A essential splice site 0.00000829●●●●●●
95. 29102220 c.690+8A>T splice site 0.00000829●●●●●●
96. 29104401 c.691-10_691-6delTGCTC splice site 0.00001660●●●●●●
97. 29104413 c.693A>G splice site 0.00000830●●●●●●
98. 29104426 c.706A>G p.T236A missense 0.00005813●●●●●●
99. 29104433 c.713C>T p.T238I missense 0.00001661●●●●●●
100. 29104436 c.716T>C p.V239A missense 0.00009137●●●●●●
101. 29104441 c.721G>A p.A241T missense 0.00001662●●●●●●
102. 29104442 c.722C>T p.A241V missense 0.00000831●●●●●●
103. 29104450 c.730G>C p.G244R missense 0.00000831●●●●●●
104. 29104457 c.737G>A p.G246E missense 0.00001663●●●●●●
105. 29104490 c.770A>G p.Q257R missense 0.00000833●●●●●●
106. 29104502 c.782G>T p.R261L missense 0.00000834●●●●●●
107. 29104511 c.791A>G p.D264G missense 0.00000834●●●●●●
108. 29104517 c.797A>G p.N266S missense 0.00000835●●●●●●
109. 29104526 c.806T>C p.I269T missense 0.00005018●●●●●●
110. 29104540 c.820A>G p.N274D missense 0.00000839●●●●●●
111. 29104546 c.826_828delGTG p.Val276del inframe 0.00003364●●●●●●
112. 29104553 c.828+5C>T splice site 0.00001688●●●●●●
113. 29104658 c.829-8T>C splice site 0.00000832●●●●●●
114. 29104661 c.829-5T>C splice site 0.00000832●●●●●●
115. 29104665 c.829-1_839delGCTTGAAGGGAT essential splice site 0.00000831●●●●●●
116. 29104678 c.841G>A p.V281I missense 0.00000829●●●●●●
117. 29104690 c.853C>G p.Q285E missense 0.00000829●●●●●●
118. 29104691 c.854A>T p.Q285L missense 0.00000829●●●●●●
119. 29104699 c.862G>A p.V288I missense 0.00004970●●●●●●
120. 29104700 c.863T>G p.V288G missense 0.00000828●●●●●●
121. 29104709 c.872C>T p.T291M missense 0.00001657●●●●●●
122. 29104711 c.874C>T p.R292C missense 0.00003313●●●●●●
123. 29104712 c.875G>A p.R292H missense 0.00007455●●●●●●
124. 29104714 c.877A>G p.I293V missense 0.06867390●●●●●●
125. 29104714 c.877A>T p.I293L missense 0.00001657●●●●●●
126. 29104717 c.880A>G p.K294E missense 0.00002485●●●●●●
127. 29104721 c.884T>C p.V295A missense 0.00000828●●●●●●
128. 29104726 c.889G>A p.D297N missense 0.00000828●●●●●●
129. 29104739 c.902delT p.Ile301LysfsTer23 frameshift 0.00000828●●●●●●
130. 29104745 c.908C>T p.S303F missense 0.00000828●●●●●●
131. 29104768 c.931A>G p.T311A missense 0.00000828●●●●●●
132. 29104786 c.949G>A p.E317K missense 0.00000828●●●●●●
133. 29104796 c.959A>G p.Y320C missense 0.00000829●●●●●●
134. 29104798 c.961T>A p.F321I missense 0.00001657●●●●●●
135. 29104801 c.964C>T p.H322Y missense 0.00001657●●●●●●
136. 29104805 c.968T>C p.I323T missense 0.00000829●●●●●●
137. 29104810 c.973A>G p.T325A missense 0.00000829●●●●●●
138. 29104814 c.977A>T p.D326V missense 0.00001657●●●●●●
139. 29104820 c.983A>G p.Q328R missense 0.00000829●●●●●●
140. 29104828 c.991G>A p.E331K missense 0.00002487●●●●●●
141. 29104835 c.998T>G p.I333S missense 0.00000829●●●●●●
142. 29104837 c.1000G>A p.V334M missense 0.00000829●●●●●●
143. 29104840 c.1003A>G p.T335A missense 0.00055579●●●●●●
144. 29104848 c.1011T>G p.I337M missense 0.00000830●●●●●●
145. 29104858 c.1014+7A>G splice site 0.00000831●●●●●●
146. 29110949 c.1015-1delG essential splice site 0.00000831●●●●●●
147. 29110951 c.1016delA p.Val340Ter frameshift 0.00000830●●●●●●
148. 29110954 c.1019T>C p.V340A missense 0.00000830●●●●●●
149. 29110980 c.1045G>A p.D349N missense 0.00000829●●●●●●
150. 29110986 c.1051A>G p.S351G missense 0.00072916●●●●●●
151. 29111007 c.1072G>A p.A358T missense 0.00001657●●●●●●
152. 29111019 c.1084A>G p.K362E missense 0.00000828●●●●●●
153. 29111023 c.1088C>A p.S363X nonsense 0.00000828●●●●●●
154. 29111030 c.1095G>C p.R365S missense 0.00000828●●●●●●
155. 29111032 c.1097G>A p.S366N missense 0.00000828●●●●●●
156. 29111040 c.1105A>G p.K369E missense 0.00000828●●●●●●
157. 29111041 c.1106A>T p.K369M missense 0.00000828●●●●●●
158. 29111058 c.1123A>G p.I375V missense 0.00000828●●●●●●
159. 29111070 c.1135G>A p.V379M missense 0.00000828●●●●●●
160. 29111088 c.1153G>T p.G385C missense 0.00000828●●●●●●
161. 29111109 c.1174G>A p.V392I missense 0.00256708●●●●●●
162. 29111125 c.1190T>C p.V397A missense 0.00001656●●●●●●
163. 29111130 c.1195G>A p.E399K missense 0.00003312●●●●●●
164. 29111137 c.1202T>C p.M401T missense 0.00000828●●●●●●
165. 29111139 c.1204G>A p.D402N missense 0.00003313●●●●●●
166. 29111140 c.1205A>G p.D402G missense 0.00000828●●●●●●
167. 29111150 c.1215C>G p.S405R missense 0.00000828●●●●●●
168. 29111178 c.1243G>A p.A415T missense 0.00007454●●●●●●
169. 29111179 c.1244C>A p.A415D missense 0.00000828●●●●●●
170. 29111187 c.1252G>A p.E418K missense 0.00000828●●●●●●
171. 29111191 c.1256A>T p.D419V missense 0.00000828●●●●●●
172. 29111209 c.1274A>C p.H425P missense 0.00000829●●●●●●
173. 29111219 c.1280+4_1280+5delAG splice site 0.00015754●●●●●●
174. 29111223 c.1280+8A>G splice site 0.00002490●●●●●●
175. 29115227 c.1281-6T>A splice site 0.00001412●●●●●●
176. 29115233 c.1281A>T p.R427S missense 0.00002648●●●●●●
177. 29115244 c.1292T>C p.L431S missense 0.00004848●●●●●●
178. 29115250 c.1298A>G p.D433G missense 0.00001159●●●●●●
179. 29115255 c.1303G>A p.D435N missense 0.00121286●●●●●●
180. 29115255 c.1303G>C p.D435H missense 0.00001123●●●●●●
181. 29115256 c.1304A>G p.D435G missense 0.00003346●●●●●●
182. 29115269 c.1317_1318delTG p.Val440GlyfsTer6 frameshift 0.00003173●●●●●●
183. 29115277 c.1325C>A p.S442Y missense 0.00001023●●●●●●
184. 29115286 c.1334C>A p.S445Y missense 0.00000991●●●●●●
185. 29115295 c.1343A>G p.K448R missense 0.00000969●●●●●●
186. 29115301 c.1349C>T p.A450V missense 0.00000951●●●●●●
187. 29115307 c.1355T>C p.L452P missense 0.00000932●●●●●●
188. 29115315 c.1363T>C p.F455L missense 0.00000912●●●●●●
189. 29115328 c.1376A>G p.Y459C missense 0.00124262●●●●●●
190. 29115340 c.1388G>T p.G463V missense 0.00000884●●●●●●
191. 29115349 c.1397C>T p.T466I missense 0.00001761●●●●●●
192. 29115370 c.1418C>T p.S473L missense 0.00006208●●●●●●
193. 29115375 c.1423G>C p.D475H missense 0.00000893●●●●●●
194. 29115379 c.1423+4A>C splice site 0.00000899●●●●●●
195. 29116164 c.1424-1G>T essential splice site 0.00000842●●●●●●
196. 29116176 c.1435A>G p.K479E missense 0.00000832●●●●●●
197. 29116182 c.1441A>G p.I481V missense 0.00001661●●●●●●
198. 29116183 c.1442T>C p.I481T missense 0.00000830●●●●●●
199. 29116207 c.1466T>C p.V489A missense 0.00000829●●●●●●
200. 29116219 c.1478A>G p.N493S missense 0.00004142●●●●●●
201. 29116221 c.1480G>A p.D494N missense 0.00003314●●●●●●
202. 29116222 c.1481A>C p.D494A missense 0.00003314●●●●●●
203. 29116236 c.1495C>A p.L499M missense 0.00000828●●●●●●
204. 29116240 c.1499T>G p.I500R missense 0.00000828●●●●●●
205. 29116245 c.1504C>T p.P502S missense 0.00001657●●●●●●
206. 29116248 c.1507G>A p.V503M missense 0.00000828●●●●●●
207. 29116249 c.1508T>G p.V503G missense 0.00000828●●●●●●
208. 29116261 c.1520G>T p.C507F missense 0.00000828●●●●●●
209. 29116264 c.1523A>T p.H508L missense 0.00000828●●●●●●
210. 29116266 c.1525G>A p.D509N missense 0.00004970●●●●●●
211. 29116284 c.1543G>A p.V515I missense 0.00239381●●●●●●
212. 29116284 c.1543G>T p.V515F missense 0.00000828●●●●●●
213. 29116291 c.1550C>T p.A517V missense 0.00057155●●●●●●
214. 29116296 c.1555G>T p.D519Y missense 0.00000828●●●●●●
215. 29116303 c.1562A>G p.D521G missense 0.00002485●●●●●●
216. 29116318 c.1577G>C p.S526T missense 0.00000828●●●●●●
217. 29116323 c.1582C>G p.P528A missense 0.00000829●●●●●●
218. 29116333 c.1592T>G p.F531C missense 0.00006633●●●●●●
219. 29116338 c.1597G>A p.V533I missense 0.00032346●●●●●●
220. 29116346 c.1605C>A p.D535E missense 0.00000830●●●●●●
221. 29116346 c.1605C>G p.D535E missense 0.00000830●●●●●●
222. 29116353 c.1612C>G p.P538A missense 0.00001664●●●●●●
223. 29116354 c.1613C>G p.P538R missense 0.00000832●●●●●●
224. 29116359 c.1618A>G p.M540V missense 0.00000834●●●●●●
225. 29116363 c.1622C>G p.A541G missense 0.00000836●●●●●●
226. 29116365 c.1624G>C p.E542Q missense 0.00000838●●●●●●
227. 29116377 c.1636A>G p.I546V missense 0.00000851●●●●●●
228. 29116383 c.1642C>T p.R548C missense 0.00000860●●●●●●
229. 29116384 c.1643G>A p.R548H missense 0.00003448●●●●●●
230. 29116384 c.1643G>T p.R548L missense 0.00000862●●●●●●
231. 29118706 c.1652-8C>T splice site 0.00000836●●●●●●
232. 29118709 c.1652-5T>A splice site 0.00001669●●●●●●
233. 29118750 c.1688T>G p.L563R missense 0.00007460●●●●●●
234. 29118755 c.1693A>G p.R565G missense 0.00000829●●●●●●
235. 29118769 c.1707G>C p.Q569H missense 0.00003314●●●●●●
236. 29118769 c.1707G>T p.Q569H missense 0.00000829●●●●●●
237. 29118783 c.1721A>G p.D574G missense 0.00000828●●●●●●
238. 29118789 c.1727A>T p.Q576L missense 0.00000828●●●●●●
239. 29118806 c.1744G>A p.E582K missense 0.00001657●●●●●●
240. 29118821 c.1759A>G p.T587A missense 0.00000828●●●●●●
241. 29118826 c.1764_1765delCA p.Thr589SerfsTer3 frameshift 0.00000828●●●●●●
242. 29118833 c.1771_1772delTG p.Cys591Ter frameshift 0.00000828●●●●●●
243. 29118843 c.1781T>C p.L594P missense 0.00055491●●●●●●
244. 29118846 c.1784A>G p.H595R missense 0.00000828●●●●●●
245. 29118854 c.1792G>A p.G598S missense 0.00004141●●●●●●
246. 29118857 c.1795T>C p.C599R missense 0.00000828●●●●●●
247. 29118861 c.1799G>A p.R600K missense 0.00000828●●●●●●
248. 29118861 c.1799delG p.Glu601LysfsTer18 frameshift 0.00001657●●●●●●
249. 29118876 c.1814A>T p.D605V missense 0.00000828●●●●●●
250. 29118882 c.1820A>G p.Y607C missense 0.00002485●●●●●●
251. 29118888 c.1826G>T p.G609V missense 0.00000828●●●●●●
252. 29118891 c.1829T>C p.L610P missense 0.00002485●●●●●●
253. 29118893 c.1831G>A p.G611R missense 0.00000828●●●●●●
254. 29118899 c.1837G>A p.A613T missense 0.00002485●●●●●●
255. 29118909 c.1847C>T p.A616V missense 0.00022368●●●●●●
256. 29118923 c.1861G>A p.A621T missense 0.00000829●●●●●●
257. 29118940 c.1878A>G splice site 0.00000830●●●●●●
258. 29118943 c.1879+2T>C essential splice site 0.00000830●●●●●●
259. 29118946 c.1879+5G>T splice site 0.00000830●●●●●●
260. 29121156 c.1880T>C p.L627S missense 0.00000829●●●●●●
261. 29121157 c.1881G>A splice site 0.00000829●●●●●●
262. 29121161 c.1885C>T p.P629S missense 0.00001658●●●●●●
263. 29121170 c.1894C>A p.L632M missense 0.00000829●●●●●●
264. 29121180 c.1904G>A p.C635Y missense 0.00000829●●●●●●
265. 29121186 c.1910G>A p.C637Y missense 0.00000829●●●●●●
266. 29121188 c.1912G>A p.G638R missense 0.00012435●●●●●●
267. 29121189 c.1913G>A p.G638E missense 0.00000829●●●●●●
268. 29121192 c.1916A>G p.K639R missense 0.00000829●●●●●●
269. 29121204 c.1928G>T p.G643V missense 0.00000829●●●●●●
270. 29121210 c.1934C>A p.T645N missense 0.00000829●●●●●●
271. 29121222 c.1946G>T p.G649V missense 0.00000830●●●●●●
272. 29121225 c.1949C>T p.T650I missense 0.00001660●●●●●●
273. 29121228 c.1952T>C p.I651T missense 0.00000830●●●●●●
274. 29121230 c.1954G>C p.E652Q missense 0.00000830●●●●●●
275. 29121252 c.1976A>T p.N659I missense 0.00000833●●●●●●
276. 29121257 c.1981G>A p.G661R missense 0.00000834●●●●●●
277. 29121272 c.1996G>C p.D666H missense 0.00000840●●●●●●
278. 29121280 c.2001+3C>G splice site 0.00001692●●●●●●
279. 29122475 c.2002-8T>C splice site 0.00000828●●●●●●
280. 29122485 c.2004G>A splice site 0.00003313●●●●●●
281. 29122514 c.2033G>C p.G678A missense 0.00004141●●●●●●
282. 29122516 c.2035G>A p.G679S missense 0.00001656●●●●●●
283. 29122528 c.2047G>C p.G683R missense 0.00001656●●●●●●
284. 29122529 c.2048G>A p.G683E missense 0.00000828●●●●●●
285. 29122544 c.2063G>A p.G688E missense 0.00000828●●●●●●
286. 29122547 c.2066G>T p.G689V missense 0.00000828●●●●●●
287. 29122560 c.2079A>C p.E693D missense 0.00001656●●●●●●
288. 29122565 c.2084C>T p.T695M missense 0.00003313●●●●●●
289. 29122577 c.2096G>T p.S699I missense 0.00004140●●●●●●
290. 29122591 c.2110A>G p.I704V missense 0.00001656●●●●●●
291. 29122592 c.2111T>C p.I704T missense 0.00002484●●●●●●
292. 29122607 c.2126A>G p.H709R missense 0.00001656●●●●●●
293. 29122618 c.2137G>A p.E713K missense 0.05186148●●●●●●
294. 29122623 c.2142G>T p.M714I missense 0.00000828●●●●●●
295. 29122643 c.2162A>G p.H721R missense 0.00000828●●●●●●
296. 29122646 c.2165G>A p.R722K missense 0.00001656●●●●●●
297. 29122660 c.2179G>A p.G727S missense 0.00002484●●●●●●
298. 29122669 c.2188A>G p.T730A missense 0.00000828●●●●●●
299. 29122673 c.2192A>C p.Q731P missense 0.00007452●●●●●●
300. 29122693 c.2212G>A p.A738T missense 0.00000828●●●●●●
301. 29122696 c.2215A>G p.I739V missense 0.00000828●●●●●●
302. 29122696 c.2215A>T p.I739F missense 0.00000828●●●●●●
303. 29122715 c.2234C>T p.T745M missense 0.00003315●●●●●●
304. 29122715 c.2234C>A p.T745K missense 0.00000829●●●●●●
305. 29122723 c.2242G>A p.A748T missense 0.00003317●●●●●●
306. 29122730 c.2249C>T p.A750V missense 0.00000830●●●●●●
307. 29122733 c.2252C>T p.T751I missense 0.00001661●●●●●●
308. 29122750 c.2269A>T p.M757L missense 0.00000834●●●●●●
309. 29122754 c.2273C>T p.A758V missense 0.00001671●●●●●●
310. 29122756 c.2275G>A p.G759R missense 0.00000836●●●●●●
311. 29122768 c.2287G>A p.A763T missense 0.00000843●●●●●●
312. 29122771 c.2290G>A p.A764T missense 0.00000845●●●●●●
313. 29122786 c.2305G>A p.E769K missense 0.00005188●●●●●●
314. 29122789 c.2308G>A p.E770K missense 0.00000873●●●●●●
315. 29122799 c.2318G>A p.R773K missense 0.26756867●●●●●●
316. 29122809 c.2328C>A p.F776L missense 0.00003663●●●●●●
317. 29125676 c.2335-8C>G splice site 0.00011020●●●●●●
318. 29125676 c.2335-8C>T splice site 0.00016107●●●●●●
319. 29125677 c.2335-7A>C splice site 0.00001694●●●●●●
320. 29125677 c.2335-7A>T splice site 0.00008469●●●●●●
321. 29125688 c.2339C>T p.A780V missense 0.00017641●●●●●●
322. 29125690 c.2341G>T p.A781S missense 0.00000838●●●●●●
323. 29125709 c.2360A>G p.D787G missense 0.00003326●●●●●●
324. 29125717 c.2368C>T p.H790Y missense 0.00039033●●●●●●
325. 29125729 c.2380G>C p.D794H missense 0.00000830●●●●●●
326. 29125751 c.2402A>G p.Q801R missense 0.00000829●●●●●●
327. 29125754 c.2405A>G p.E802G missense 0.00002486●●●●●●
328. 29125766 c.2417C>T p.S806L missense 0.00000829●●●●●●
329. 29125783 c.2434G>T p.G812C missense 0.00001657●●●●●●
330. 29125783 c.2434G>A p.G812S missense 0.00001657●●●●●●
331. 29125808 c.2459A>C p.E820A missense 0.00000828●●●●●●
332. 29125808 c.2459A>G p.E820G missense 0.00000828●●●●●●
333. 29125817 c.2468A>G p.D823G missense 0.00000829●●●●●●
334. 29125819 c.2470C>T p.R824C missense 0.00015742●●●●●●
335. 29125819 c.2470C>G p.R824G missense 0.00001657●●●●●●
336. 29125820 c.2471G>A p.R824H missense 0.00004142●●●●●●
337. 29125829 c.2480A>G p.D827G missense 0.00001657●●●●●●
338. 29125838 c.2489G>C p.G830A missense 0.00000829●●●●●●
339. 29125840 c.2491C>T p.L831F missense 0.00003315●●●●●●
340. 29125846 c.2497T>A p.F833I missense 0.00000829●●●●●●
341. 29125859 c.2510C>A p.A837D missense 0.00002490●●●●●●
342. 29125859 c.2510C>G p.A837G missense 0.00000830●●●●●●
343. 29125874 c.2525G>A p.G842D missense 0.00000831●●●●●●
344. 29125897 c.2548G>A p.E850K missense 0.00000833●●●●●●
345. 29125898 c.2549delA p.Ile851LeufsTer13 frameshift 0.00001666●●●●●●
346. 29125918 c.2569C>T p.P857S missense 0.00000857●●●●●●
347. 29125921 c.2572G>C p.A858P missense 0.00000833●●●●●●
348. 29125928 c.2579A>T p.E860V missense 0.00000833●●●●●●
349. 29125936 c.2587A>C p.M863L missense 0.00194147●●●●●●
350. 29125938 c.2589G>A p.M863I missense 0.00000833●●●●●●
351. 29125946 c.2597C>T p.A866V missense 0.00007501●●●●●●
352. 29125963 c.2614G>C p.E872Q missense 0.00000834●●●●●●
353. 29125965 c.2616G>T p.E872D missense 0.00001667●●●●●●
354. 29125966 c.2617C>A p.Q873K missense 0.00000834●●●●●●
355. 29125967 c.2618A>C p.Q873P missense 0.00000834●●●●●●
356. 29125967 c.2618delA p.Thr874LeufsTer29 frameshift 0.00000834●●●●●●
357. 29125972 c.2623A>G p.M875V missense 0.00002501●●●●●●
358. 29125987 c.2638A>C p.N880H missense 0.00004167●●●●●●
359. 29125991 c.2642C>T p.T881I missense 0.00000833●●●●●●
360. 29125995 c.2646_2648delCTC p.Ser884del inframe 0.00002500●●●●●●
361. 29125996 c.2647T>C p.S883P missense 0.00187488●●●●●●
362. 29125997 c.2648C>T p.S883F missense 0.00001666●●●●●●
363. 29125997 c.2648C>G p.S883C missense 0.00000833●●●●●●
364. 29126013 c.2664C>A p.F888L missense 0.00000833●●●●●●
365. 29126021 c.2672C>G p.P891R missense 0.00000833●●●●●●
366. 29126027 c.2678C>T p.S893F missense 0.00000832●●●●●●
367. 29126030 c.2681T>G p.L894W missense 0.00001665●●●●●●
368. 29126039 c.2690C>A p.A897D missense 0.00004161●●●●●●
369. 29126042 c.2693A>G p.N898S missense 0.00001664●●●●●●
370. 29126057 c.2708C>T p.T903I missense 0.00187839●●●●●●
371. 29126059 c.2710C>G p.Q904E missense 0.00001662●●●●●●
372. 29126065 c.2716A>G p.I906V missense 0.00001662●●●●●●
373. 29126066 c.2717T>C p.I906T missense 0.00000831●●●●●●
374. 29126071 c.2722A>C p.T908P missense 0.00000831●●●●●●
375. 29126071 c.2722A>G p.T908A missense 0.00000831●●●●●●
376. 29126076 c.2727A>C p.E909D missense 0.00000830●●●●●●
377. 29126078 c.2729G>T p.R910I missense 0.00000830●●●●●●
378. 29126086 c.2737T>C p.S913P missense 0.00000830●●●●●●
379. 29126090 c.2741C>G p.S914C missense 0.00000830●●●●●●
380. 29126093 c.2744G>C p.R915T missense 0.00001659●●●●●●
381. 29126098 c.2749G>A p.A917T missense 0.00000829●●●●●●
382. 29126099 c.2750C>T p.A917V missense 0.00018250●●●●●●
383. 29126107 c.2758G>A p.V920I missense 0.00000829●●●●●●
384. 29126107 c.2758G>T p.V920L missense 0.00001658●●●●●●
385. 29126108 c.2759T>G p.V920G missense 0.00322570●●●●●●
386. 29126129 c.2780C>T p.P927L missense 0.00026533●●●●●●
387. 29126131 c.2782A>G p.M928V missense 0.00000829●●●●●●
388. 29126146 c.2797G>A p.V933M missense 0.00000830●●●●●●
389. 29126159 c.2810A>C p.E937A missense 0.00000833●●●●●●
390. 29126174 c.2825C>T p.T942I missense 0.00000838●●●●●●
391. 29126182 c.2833A>G p.T945A missense 0.00000840●●●●●●
392. 29126185 c.2836A>G p.M946V missense 0.00000841●●●●●●
393. 29126212 c.2863C>T p.P955S missense 0.00000850●●●●●●
394. 29126218 c.2869C>G p.Q957E missense 0.00001704●●●●●●
395. 29126229 c.2880C>G p.S960R missense 0.00000855●●●●●●
396. 29126229 c.2880C>A p.S960R missense 0.00000855●●●●●●
397. 29126234 c.2885T>C p.I962T missense 0.00000855●●●●●●
398. 29126235 c.2886T>G p.I962M missense 0.00080383●●●●●●
399. 29126246 c.2897G>C p.R966T missense 0.00002569●●●●●●
400. 29126255 c.2906C>T p.A969V missense 0.00054832●●●●●●
401. 29126257 c.2908C>T p.P970S missense 0.00000856●●●●●●
402. 29126264 c.2915C>T p.S972F missense 0.00000855●●●●●●
403. 29126290 c.2941A>G p.N981D missense 0.00001698●●●●●●
404. 29126293 c.2944G>A p.E982K missense 0.00000848●●●●●●
405. 29126297 c.2948G>A p.G983D missense 0.00002541●●●●●●
406. 29126297 c.2948G>T p.G983V missense 0.00002541●●●●●●
407. 29126300 c.2951C>A p.T984K missense 0.00000846●●●●●●
408. 29126302 c.2953G>A p.V985I missense 0.00001690●●●●●●
409. 29126303 c.2954T>G p.V985G missense 0.00000845●●●●●●
410. 29126308 c.2959G>T p.V987F missense 0.00007586●●●●●●
411. 29126314 c.2965G>C p.E989Q missense 0.00000840●●●●●●
412. 29126325 c.2976A>G p.I992M missense 0.00000836●●●●●●
413. 29126345 c.2996C>T p.S999L missense 0.00003324●●●●●●
414. 29126359 c.3010G>A p.G1004S missense 0.00000830●●●●●●
415. 29126369 c.3020A>G p.H1007R missense 0.00000829●●●●●●
416. 29126370 c.3021T>A p.H1007Q missense 0.00000829●●●●●●
417. 29126378 c.3029A>T p.D1010V missense 0.00000829●●●●●●
418. 29126386 c.3037T>C p.Y1013H missense 0.00000829●●●●●●
419. 29126388 c.3039C>A p.Tyr1013Ter nonsense 0.00004144●●●●●●
420. 29126389 c.3040G>A p.V1014I missense 0.00004972●●●●●●
421. 29126404 c.3055_3058delAGAG p.Glu1020AlafsTer18 frameshift 0.00004142●●●●●●
422. 29126423 c.3074C>T p.P1025L missense 0.00000828●●●●●●
423. 29126431 c.3082G>A p.G1028S missense 0.00062942●●●●●●
424. 29126432 c.3083G>A p.G1028D missense 0.00002485●●●●●●
425. 29126435 c.3086T>C p.V1029A missense 0.00000828●●●●●●
426. 29126444 c.3095C>T p.T1032I missense 0.00006625●●●●●●
427. 29126450 c.3101C>T p.A1034V missense 0.00000828●●●●●●
428. 29126458 c.3109A>G p.N1037D missense 0.00001656●●●●●●
429. 29126461 c.3112A>G p.I1038V missense 0.00003312●●●●●●
430. 29126462 c.3113T>C p.I1038T missense 0.00001656●●●●●●
431. 29126465 c.3116C>T p.A1039V missense 0.00000828●●●●●●
432. 29126467 c.3118G>A p.V1040I missense 0.00006625●●●●●●
433. 29126471 c.3122G>A p.G1041E missense 0.00000828●●●●●●
434. 29126485 c.3136G>A p.V1046M missense 0.00000828●●●●●●
435. 29126490 c.3141_3144delAGAA p.Arg1049PhefsTer2 frameshift 0.00002484●●●●●●
436. 29126492 c.3143A>G p.E1048G missense 0.00001656●●●●●●
437. 29126524 c.3175T>A p.S1059T missense 0.00028158●●●●●●
438. 29126558 c.3209C>T p.T1070M missense 0.00117614●●●●●●
439. 29126561 c.3212C>G p.A1071G missense 0.00000828●●●●●●
440. 29126575 c.3226G>C p.V1076L missense 0.00000828●●●●●●
441. 29126575 c.3226G>T p.V1076L missense 0.00003314●●●●●●
442. 29126576 c.3227T>G p.V1076G missense 0.00000828●●●●●●
443. 29126593 c.3244C>G p.P1082A missense 0.00046398●●●●●●
444. 29126615 c.3266G>A p.G1089D missense 0.00012433●●●●●●
445. 29126615 c.3266G>T p.G1089V missense 0.00002487●●●●●●
446. 29126620 c.3271G>A p.E1091K missense 0.00000829●●●●●●
447. 29126630 c.3281G>T p.G1094V missense 0.00008290●●●●●●
448. 29126632 c.3283C>A p.H1095N missense 0.00008290●●●●●●
449. 29126642 c.3293C>G p.S1098C missense 0.00003316●●●●●●
450. 29126644 c.3295A>G p.T1099A missense 0.00040627●●●●●●
451. 29126653 c.3304A>G p.T1102A missense 0.00000829●●●●●●
452. 29126663 c.3314C>T p.T1105I missense 0.00000829●●●●●●
453. 29126665 c.3316A>G p.R1106G missense 0.00001659●●●●●●
454. 29126689 c.3340C>G p.Q1114E missense 0.00000833●●●●●●
455. 29126702 c.3353C>T p.S1118F missense 0.00001669●●●●●●

* 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.