DSG2 missense variants in ExAC

DSG2 gene summary
DSG2 variants in DCM

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