DSG2 protein-altering variants in ExAC

DSG2 gene summary
DSG2 variants in DCM

The table below lists the DSG2 protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




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