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

* 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.