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. 29125820 c.2471G>A p.R824H missense 0.00004142●●●●●●
70. 29116219 c.1478A>G p.N493S 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. 29102103 c.581C>T p.S194L missense 0.00003317●●●●●●
80. 29122723 c.2242G>A p.A748T 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. 29116221 c.1480G>A p.D494N missense 0.00003314●●●●●●
85. 29118769 c.1707G>C p.Q569H missense 0.00003314●●●●●●
86. 29101128 c.445G>A p.V149I missense 0.00003314●●●●●●
87. 29126575 c.3226G>T p.V1076L missense 0.00003314●●●●●●
88. 29116222 c.1481A>C p.D494A missense 0.00003314●●●●●●
89. 29111139 c.1204G>A p.D402N missense 0.00003313●●●●●●
90. 29122565 c.2084C>T p.T695M missense 0.00003313●●●●●●
91. 29104711 c.874C>T p.R292C missense 0.00003313●●●●●●
92. 29126461 c.3112A>G p.I1038V missense 0.00003312●●●●●●
93. 29111130 c.1195G>A p.E399K 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>A p.G983D missense 0.00002541●●●●●●
97. 29126297 c.2948G>T p.G983V missense 0.00002541●●●●●●
98. 29125972 c.2623A>G p.M875V missense 0.00002501●●●●●●
99. 29125859 c.2510C>A p.A837D missense 0.00002490●●●●●●
100. 29101196 c.513G>T p.L171F missense 0.00002487●●●●●●
101. 29104828 c.991G>A p.E331K missense 0.00002487●●●●●●
102. 29126615 c.3266G>T p.G1089V missense 0.00002487●●●●●●
103. 29099812 c.128A>G p.H43R 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. 29118882 c.1820A>G p.Y607C missense 0.00002485●●●●●●
110. 29104717 c.880A>G p.K294E 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>A p.R119Q missense 0.00001683●●●●●●
120. 29100905 c.356G>T p.R119L missense 0.00001683●●●●●●
121. 29100768 c.219A>G p.I73M 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. 29100794 c.245G>T p.G82V missense 0.00001667●●●●●●
126. 29125965 c.2616G>T p.E872D 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. 29126042 c.2693A>G p.N898S missense 0.00001664●●●●●●
131. 29116353 c.1612C>G p.P538A missense 0.00001664●●●●●●
132. 29102049 c.527C>T p.T176I missense 0.00001664●●●●●●
133. 29104457 c.737G>A p.G246E missense 0.00001663●●●●●●
134. 29104441 c.721G>A p.A241T missense 0.00001662●●●●●●
135. 29126065 c.2716A>G p.I906V missense 0.00001662●●●●●●
136. 29126059 c.2710C>G p.Q904E 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. 29126093 c.2744G>C p.R915T missense 0.00001659●●●●●●
143. 29126665 c.3316A>G p.R1106G missense 0.00001659●●●●●●
144. 29121161 c.1885C>T p.P629S missense 0.00001658●●●●●●
145. 29126107 c.2758G>T p.V920L missense 0.00001658●●●●●●
146. 29116245 c.1504C>T p.P502S missense 0.00001657●●●●●●
147. 29104714 c.877A>T p.I293L missense 0.00001657●●●●●●
148. 29104709 c.872C>T p.T291M missense 0.00001657●●●●●●
149. 29118806 c.1744G>A p.E582K missense 0.00001657●●●●●●
150. 29125783 c.2434G>T p.G812C missense 0.00001657●●●●●●
151. 29125819 c.2470C>G p.R824G missense 0.00001657●●●●●●
152. 29099829 c.145C>T p.R49C missense 0.00001657●●●●●●
153. 29101149 c.466G>A p.E156K missense 0.00001657●●●●●●
154. 29104798 c.961T>A p.F321I missense 0.00001657●●●●●●
155. 29125783 c.2434G>A p.G812S missense 0.00001657●●●●●●
156. 29125829 c.2480A>G p.D827G missense 0.00001657●●●●●●
157. 29104801 c.964C>T p.H322Y missense 0.00001657●●●●●●
158. 29099860 c.176G>A p.R59Q missense 0.00001657●●●●●●
159. 29104814 c.977A>T p.D326V missense 0.00001657●●●●●●
160. 29102199 c.677C>T p.T226I missense 0.00001657●●●●●●
161. 29101119 c.436C>T p.R146C missense 0.00001657●●●●●●
162. 29111007 c.1072G>A p.A358T missense 0.00001657●●●●●●
163. 29122646 c.2165G>A p.R722K missense 0.00001656●●●●●●
164. 29122528 c.2047G>C p.G683R missense 0.00001656●●●●●●
165. 29111125 c.1190T>C p.V397A missense 0.00001656●●●●●●
166. 29126462 c.3113T>C p.I1038T missense 0.00001656●●●●●●
167. 29126492 c.3143A>G p.E1048G missense 0.00001656●●●●●●
168. 29122560 c.2079A>C p.E693D missense 0.00001656●●●●●●
169. 29122607 c.2126A>G p.H709R missense 0.00001656●●●●●●
170. 29126458 c.3109A>G p.N1037D missense 0.00001656●●●●●●
171. 29122516 c.2035G>A p.G679S missense 0.00001656●●●●●●
172. 29122591 c.2110A>G p.I704V 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. 29126229 c.2880C>G p.S960R missense 0.00000855●●●●●●
190. 29126264 c.2915C>T p.S972F 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. 29126182 c.2833A>G p.T945A missense 0.00000840●●●●●●
201. 29121272 c.1996G>C p.D666H missense 0.00000840●●●●●●
202. 29126314 c.2965G>C p.E989Q missense 0.00000840●●●●●●
203. 29104540 c.820A>G p.N274D missense 0.00000839●●●●●●
204. 29116365 c.1624G>C p.E542Q missense 0.00000838●●●●●●
205. 29126174 c.2825C>T p.T942I missense 0.00000838●●●●●●
206. 29125690 c.2341G>T p.A781S missense 0.00000838●●●●●●
207. 29101206 c.523C>T p.H175Y missense 0.00000837●●●●●●
208. 29100782 c.233C>A p.A78E missense 0.00000836●●●●●●
209. 29098202 c.46A>G p.I16V missense 0.00000836●●●●●●
210. 29122756 c.2275G>A p.G759R missense 0.00000836●●●●●●
211. 29116363 c.1622C>G p.A541G missense 0.00000836●●●●●●
212. 29126325 c.2976A>G p.I992M missense 0.00000836●●●●●●
213. 29104517 c.797A>G p.N266S missense 0.00000835●●●●●●
214. 29104511 c.791A>G p.D264G missense 0.00000834●●●●●●
215. 29125967 c.2618A>C p.Q873P missense 0.00000834●●●●●●
216. 29125963 c.2614G>C p.E872Q missense 0.00000834●●●●●●
217. 29121257 c.1981G>A p.G661R missense 0.00000834●●●●●●
218. 29100790 c.241A>G p.R81G missense 0.00000834●●●●●●
219. 29122750 c.2269A>T p.M757L missense 0.00000834●●●●●●
220. 29116359 c.1618A>G p.M540V missense 0.00000834●●●●●●
221. 29104502 c.782G>T p.R261L missense 0.00000834●●●●●●
222. 29125966 c.2617C>A p.Q873K missense 0.00000834●●●●●●
223. 29100793 c.244G>A p.G82R missense 0.00000834●●●●●●
224. 29125928 c.2579A>T p.E860V missense 0.00000833●●●●●●
225. 29100871 c.322A>G p.T108A missense 0.00000833●●●●●●
226. 29126689 c.3340C>G p.Q1114E missense 0.00000833●●●●●●
227. 29121252 c.1976A>T p.N659I missense 0.00000833●●●●●●
228. 29125997 c.2648C>G p.S883C missense 0.00000833●●●●●●
229. 29125897 c.2548G>A p.E850K missense 0.00000833●●●●●●
230. 29104490 c.770A>G p.Q257R missense 0.00000833●●●●●●
231. 29100803 c.254T>A p.I85N missense 0.00000833●●●●●●
232. 29126013 c.2664C>A p.F888L missense 0.00000833●●●●●●
233. 29126159 c.2810A>C p.E937A missense 0.00000833●●●●●●
234. 29125938 c.2589G>A p.M863I missense 0.00000833●●●●●●
235. 29126021 c.2672C>G p.P891R missense 0.00000833●●●●●●
236. 29125921 c.2572G>C p.A858P missense 0.00000833●●●●●●
237. 29125991 c.2642C>T p.T881I missense 0.00000833●●●●●●
238. 29126027 c.2678C>T p.S893F missense 0.00000832●●●●●●
239. 29116354 c.1613C>G p.P538R missense 0.00000832●●●●●●
240. 29116176 c.1435A>G p.K479E missense 0.00000832●●●●●●
241. 29100852 c.303A>G p.I101M missense 0.00000832●●●●●●
242. 29104450 c.730G>C p.G244R missense 0.00000831●●●●●●
243. 29102058 c.536T>C p.M179T missense 0.00000831●●●●●●
244. 29126071 c.2722A>G p.T908A missense 0.00000831●●●●●●
245. 29099781 c.97A>C p.N33H missense 0.00000831●●●●●●
246. 29125874 c.2525G>A p.G842D missense 0.00000831●●●●●●
247. 29098214 c.58G>A p.V20I missense 0.00000831●●●●●●
248. 29126066 c.2717T>C p.I906T missense 0.00000831●●●●●●
249. 29104442 c.722C>T p.A241V missense 0.00000831●●●●●●
250. 29126071 c.2722A>C p.T908P missense 0.00000831●●●●●●
251. 29099775 c.91A>G p.T31A missense 0.00000831●●●●●●
252. 29110954 c.1019T>C p.V340A missense 0.00000830●●●●●●
253. 29116183 c.1442T>C p.I481T missense 0.00000830●●●●●●
254. 29116346 c.1605C>G p.D535E missense 0.00000830●●●●●●
255. 29125729 c.2380G>C p.D794H missense 0.00000830●●●●●●
256. 29126090 c.2741C>G p.S914C missense 0.00000830●●●●●●
257. 29121222 c.1946G>T p.G649V missense 0.00000830●●●●●●
258. 29102069 c.547G>A p.A183T missense 0.00000830●●●●●●
259. 29116346 c.1605C>A p.D535E missense 0.00000830●●●●●●
260. 29126076 c.2727A>C p.E909D missense 0.00000830●●●●●●
261. 29126359 c.3010G>A p.G1004S missense 0.00000830●●●●●●
262. 29126146 c.2797G>A p.V933M missense 0.00000830●●●●●●
263. 29101074 c.391G>A p.A131T missense 0.00000830●●●●●●
264. 29121228 c.1952T>C p.I651T missense 0.00000830●●●●●●
265. 29101074 c.391G>T p.A131S missense 0.00000830●●●●●●
266. 29126078 c.2729G>T p.R910I missense 0.00000830●●●●●●
267. 29102073 c.551C>T p.T184I missense 0.00000830●●●●●●
268. 29104848 c.1011T>G p.I337M missense 0.00000830●●●●●●
269. 29098221 c.65G>A p.S22N missense 0.00000830●●●●●●
270. 29122730 c.2249C>T p.A750V missense 0.00000830●●●●●●
271. 29121230 c.1954G>C p.E652Q missense 0.00000830●●●●●●
272. 29125859 c.2510C>G p.A837G missense 0.00000830●●●●●●
273. 29126086 c.2737T>C p.S913P missense 0.00000830●●●●●●
274. 29104820 c.983A>G p.Q328R missense 0.00000829●●●●●●
275. 29116207 c.1466T>C p.V489A missense 0.00000829●●●●●●
276. 29126370 c.3021T>A p.H1007Q missense 0.00000829●●●●●●
277. 29121210 c.1934C>A p.T645N missense 0.00000829●●●●●●
278. 29099796 c.112C>T p.L38F missense 0.00000829●●●●●●
279. 29125817 c.2468A>G p.D823G missense 0.00000829●●●●●●
280. 29099874 c.190C>G p.L64V missense 0.00000829●●●●●●
281. 29099806 c.122A>T p.H41L missense 0.00000829●●●●●●
282. 29101087 c.404G>C p.R135T missense 0.00000829●●●●●●
283. 29121189 c.1913G>A p.G638E missense 0.00000829●●●●●●
284. 29125846 c.2497T>A p.F833I missense 0.00000829●●●●●●
285. 29121156 c.1880T>C p.L627S missense 0.00000829●●●●●●
286. 29125766 c.2417C>T p.S806L missense 0.00000829●●●●●●
287. 29099820 c.136C>T p.R46W missense 0.00000829●●●●●●
288. 29104835 c.998T>G p.I333S missense 0.00000829●●●●●●
289. 29099866 c.182G>T p.G61V missense 0.00000829●●●●●●
290. 29099856 c.172C>T p.L58F missense 0.00000829●●●●●●
291. 29126131 c.2782A>G p.M928V missense 0.00000829●●●●●●
292. 29126620 c.3271G>A p.E1091K missense 0.00000829●●●●●●
293. 29126378 c.3029A>T p.D1010V missense 0.00000829●●●●●●
294. 29102135 c.613C>T p.P205S missense 0.00000829●●●●●●
295. 29110980 c.1045G>A p.D349N missense 0.00000829●●●●●●
296. 29099880 c.196A>G p.K66E missense 0.00000829●●●●●●
297. 29121170 c.1894C>A p.L632M missense 0.00000829●●●●●●
298. 29118755 c.1693A>G p.R565G missense 0.00000829●●●●●●
299. 29104691 c.854A>T p.Q285L missense 0.00000829●●●●●●
300. 29121180 c.1904G>A p.C635Y missense 0.00000829●●●●●●
301. 29101176 c.493G>T p.V165F missense 0.00000829●●●●●●
302. 29121192 c.1916A>G p.K639R missense 0.00000829●●●●●●
303. 29125751 c.2402A>G p.Q801R missense 0.00000829●●●●●●
304. 29099830 c.146G>A p.R49H missense 0.00000829●●●●●●
305. 29122715 c.2234C>A p.T745K missense 0.00000829●●●●●●
306. 29104837 c.1000G>A p.V334M missense 0.00000829●●●●●●
307. 29099869 c.185A>G p.E62G missense 0.00000829●●●●●●
308. 29104690 c.853C>G p.Q285E missense 0.00000829●●●●●●
309. 29126653 c.3304A>G p.T1102A missense 0.00000829●●●●●●
310. 29102084 c.562G>A p.E188K missense 0.00000829●●●●●●
311. 29104678 c.841G>A p.V281I missense 0.00000829●●●●●●
312. 29118769 c.1707G>T p.Q569H missense 0.00000829●●●●●●
313. 29099844 c.160G>A p.A54T missense 0.00000829●●●●●●
314. 29126098 c.2749G>A p.A917T missense 0.00000829●●●●●●
315. 29104796 c.959A>G p.Y320C missense 0.00000829●●●●●●
316. 29126107 c.2758G>A p.V920I missense 0.00000829●●●●●●
317. 29104805 c.968T>C p.I323T missense 0.00000829●●●●●●
318. 29121204 c.1928G>T p.G643V missense 0.00000829●●●●●●
319. 29121186 c.1910G>A p.C637Y missense 0.00000829●●●●●●
320. 29126386 c.3037T>C p.Y1013H missense 0.00000829●●●●●●
321. 29126369 c.3020A>G p.H1007R missense 0.00000829●●●●●●
322. 29099870 c.186G>T p.E62D missense 0.00000829●●●●●●
323. 29102136 c.614C>T p.P205L missense 0.00000829●●●●●●
324. 29102139 c.617C>A p.A206D missense 0.00000829●●●●●●
325. 29101083 c.400G>A p.A134T missense 0.00000829●●●●●●
326. 29125838 c.2489G>C p.G830A missense 0.00000829●●●●●●
327. 29118923 c.1861G>A p.A621T missense 0.00000829●●●●●●
328. 29111209 c.1274A>C p.H425P missense 0.00000829●●●●●●
329. 29104810 c.973A>G p.T325A missense 0.00000829●●●●●●
330. 29099854 c.170C>G p.A57G missense 0.00000829●●●●●●
331. 29126663 c.3314C>T p.T1105I missense 0.00000829●●●●●●
332. 29116323 c.1582C>G p.P528A missense 0.00000829●●●●●●
333. 29126576 c.3227T>G p.V1076G missense 0.00000828●●●●●●
334. 29126561 c.3212C>G p.A1071G missense 0.00000828●●●●●●
335. 29122547 c.2066G>T p.G689V missense 0.00000828●●●●●●
336. 29111019 c.1084A>G p.K362E missense 0.00000828●●●●●●
337. 29126435 c.3086T>C p.V1029A missense 0.00000828●●●●●●
338. 29118857 c.1795T>C p.C599R missense 0.00000828●●●●●●
339. 29126423 c.3074C>T p.P1025L missense 0.00000828●●●●●●
340. 29118888 c.1826G>T p.G609V missense 0.00000828●●●●●●
341. 29122669 c.2188A>G p.T730A missense 0.00000828●●●●●●
342. 29116296 c.1555G>T p.D519Y missense 0.00000828●●●●●●
343. 29122623 c.2142G>T p.M714I missense 0.00000828●●●●●●
344. 29116264 c.1523A>T p.H508L missense 0.00000828●●●●●●
345. 29101141 c.458A>G p.N153S missense 0.00000828●●●●●●
346. 29104786 c.949G>A p.E317K missense 0.00000828●●●●●●
347. 29104726 c.889G>A p.D297N missense 0.00000828●●●●●●
348. 29111041 c.1106A>T p.K369M missense 0.00000828●●●●●●
349. 29116248 c.1507G>A p.V503M missense 0.00000828●●●●●●
350. 29102172 c.650C>G p.T217R missense 0.00000828●●●●●●
351. 29111179 c.1244C>A p.A415D missense 0.00000828●●●●●●
352. 29111187 c.1252G>A p.E418K missense 0.00000828●●●●●●
353. 29111140 c.1205A>G p.D402G missense 0.00000828●●●●●●
354. 29111058 c.1123A>G p.I375V missense 0.00000828●●●●●●
355. 29122693 c.2212G>A p.A738T missense 0.00000828●●●●●●
356. 29104721 c.884T>C p.V295A missense 0.00000828●●●●●●
357. 29126471 c.3122G>A p.G1041E missense 0.00000828●●●●●●
358. 29122529 c.2048G>A p.G683E missense 0.00000828●●●●●●
359. 29116236 c.1495C>A p.L499M missense 0.00000828●●●●●●
360. 29126575 c.3226G>C p.V1076L missense 0.00000828●●●●●●
361. 29104700 c.863T>G p.V288G missense 0.00000828●●●●●●
362. 29126465 c.3116C>T p.A1039V missense 0.00000828●●●●●●
363. 29125808 c.2459A>C p.E820A missense 0.00000828●●●●●●
364. 29118861 c.1799G>A p.R600K missense 0.00000828●●●●●●
365. 29118821 c.1759A>G p.T587A missense 0.00000828●●●●●●
366. 29116249 c.1508T>G p.V503G missense 0.00000828●●●●●●
367. 29122643 c.2162A>G p.H721R missense 0.00000828●●●●●●
368. 29126450 c.3101C>T p.A1034V missense 0.00000828●●●●●●
369. 29102180 c.658A>G p.I220V missense 0.00000828●●●●●●
370. 29118876 c.1814A>T p.D605V missense 0.00000828●●●●●●
371. 29118893 c.1831G>A p.G611R missense 0.00000828●●●●●●
372. 29111191 c.1256A>T p.D419V missense 0.00000828●●●●●●
373. 29101146 c.463A>G p.N155D missense 0.00000828●●●●●●
374. 29111150 c.1215C>G p.S405R missense 0.00000828●●●●●●
375. 29111070 c.1135G>A p.V379M missense 0.00000828●●●●●●
376. 29111032 c.1097G>A p.S366N missense 0.00000828●●●●●●
377. 29126485 c.3136G>A p.V1046M missense 0.00000828●●●●●●
378. 29116284 c.1543G>T p.V515F missense 0.00000828●●●●●●
379. 29104745 c.908C>T p.S303F missense 0.00000828●●●●●●
380. 29118789 c.1727A>T p.Q576L missense 0.00000828●●●●●●
381. 29122696 c.2215A>G p.I739V missense 0.00000828●●●●●●
382. 29116318 c.1577G>C p.S526T missense 0.00000828●●●●●●
383. 29122544 c.2063G>A p.G688E missense 0.00000828●●●●●●
384. 29116240 c.1499T>G p.I500R missense 0.00000828●●●●●●
385. 29111137 c.1202T>C p.M401T missense 0.00000828●●●●●●
386. 29111030 c.1095G>C p.R365S missense 0.00000828●●●●●●
387. 29125808 c.2459A>G p.E820G missense 0.00000828●●●●●●
388. 29116261 c.1520G>T p.C507F missense 0.00000828●●●●●●
389. 29118783 c.1721A>G p.D574G missense 0.00000828●●●●●●
390. 29111088 c.1153G>T p.G385C missense 0.00000828●●●●●●
391. 29111040 c.1105A>G p.K369E missense 0.00000828●●●●●●
392. 29104768 c.931A>G p.T311A missense 0.00000828●●●●●●
393. 29118846 c.1784A>G p.H595R missense 0.00000828●●●●●●
394. 29122696 c.2215A>T p.I739F 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.