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. 29126630 c.3281G>T p.G1094V missense 0.00008290●●●●●●
43. 29126632 c.3283C>A p.H1095N 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. 29126467 c.3118G>A p.V1040I missense 0.00006625●●●●●●
54. 29126444 c.3095C>T p.T1032I 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. 29104699 c.862G>A p.V288I missense 0.00004970●●●●●●
65. 29116266 c.1525G>A p.D509N 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. 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. 29125840 c.2491C>T p.L831F missense 0.00003315●●●●●●
83. 29122715 c.2234C>T p.T745M missense 0.00003315●●●●●●
84. 29116221 c.1480G>A p.D494N missense 0.00003314●●●●●●
85. 29116222 c.1481A>C p.D494A missense 0.00003314●●●●●●
86. 29118769 c.1707G>C p.Q569H missense 0.00003314●●●●●●
87. 29101128 c.445G>A p.V149I missense 0.00003314●●●●●●
88. 29126575 c.3226G>T p.V1076L 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>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. 29104828 c.991G>A p.E331K missense 0.00002487●●●●●●
101. 29101196 c.513G>T p.L171F 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. 29104717 c.880A>G p.K294E missense 0.00002485●●●●●●
107. 29118899 c.1837G>A p.A613T missense 0.00002485●●●●●●
108. 29126432 c.3083G>A p.G1028D missense 0.00002485●●●●●●
109. 29101153 c.470C>T p.P157L missense 0.00002485●●●●●●
110. 29116303 c.1562A>G p.D521G missense 0.00002485●●●●●●
111. 29118882 c.1820A>G p.Y607C missense 0.00002485●●●●●●
112. 29118891 c.1829T>C p.L610P 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. 29100768 c.219A>G p.I73M missense 0.00001683●●●●●●
121. 29100905 c.356G>T p.R119L 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. 29100847 c.298G>C p.G100R missense 0.00001665●●●●●●
129. 29126030 c.2681T>G p.L894W missense 0.00001665●●●●●●
130. 29102049 c.527C>T p.T176I missense 0.00001664●●●●●●
131. 29116353 c.1612C>G p.P538A missense 0.00001664●●●●●●
132. 29126042 c.2693A>G p.N898S missense 0.00001664●●●●●●
133. 29104457 c.737G>A p.G246E missense 0.00001663●●●●●●
134. 29104441 c.721G>A p.A241T missense 0.00001662●●●●●●
135. 29126059 c.2710C>G p.Q904E missense 0.00001662●●●●●●
136. 29126065 c.2716A>G p.I906V missense 0.00001662●●●●●●
137. 29116182 c.1441A>G p.I481V missense 0.00001661●●●●●●
138. 29099782 c.98A>G p.N33S missense 0.00001661●●●●●●
139. 29104433 c.713C>T p.T238I missense 0.00001661●●●●●●
140. 29122733 c.2252C>T p.T751I 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. 29104798 c.961T>A p.F321I missense 0.00001657●●●●●●
147. 29104814 c.977A>T p.D326V missense 0.00001657●●●●●●
148. 29111007 c.1072G>A p.A358T missense 0.00001657●●●●●●
149. 29125783 c.2434G>T p.G812C missense 0.00001657●●●●●●
150. 29125783 c.2434G>A p.G812S missense 0.00001657●●●●●●
151. 29104714 c.877A>T p.I293L missense 0.00001657●●●●●●
152. 29101119 c.436C>T p.R146C missense 0.00001657●●●●●●
153. 29101149 c.466G>A p.E156K missense 0.00001657●●●●●●
154. 29104801 c.964C>T p.H322Y missense 0.00001657●●●●●●
155. 29099829 c.145C>T p.R49C missense 0.00001657●●●●●●
156. 29099860 c.176G>A p.R59Q missense 0.00001657●●●●●●
157. 29102199 c.677C>T p.T226I missense 0.00001657●●●●●●
158. 29104709 c.872C>T p.T291M missense 0.00001657●●●●●●
159. 29116245 c.1504C>T p.P502S missense 0.00001657●●●●●●
160. 29118806 c.1744G>A p.E582K missense 0.00001657●●●●●●
161. 29125819 c.2470C>G p.R824G missense 0.00001657●●●●●●
162. 29125829 c.2480A>G p.D827G missense 0.00001657●●●●●●
163. 29122591 c.2110A>G p.I704V missense 0.00001656●●●●●●
164. 29126462 c.3113T>C p.I1038T missense 0.00001656●●●●●●
165. 29122560 c.2079A>C p.E693D missense 0.00001656●●●●●●
166. 29122646 c.2165G>A p.R722K missense 0.00001656●●●●●●
167. 29111125 c.1190T>C p.V397A missense 0.00001656●●●●●●
168. 29122516 c.2035G>A p.G679S missense 0.00001656●●●●●●
169. 29122528 c.2047G>C p.G683R missense 0.00001656●●●●●●
170. 29122607 c.2126A>G p.H709R missense 0.00001656●●●●●●
171. 29126458 c.3109A>G p.N1037D missense 0.00001656●●●●●●
172. 29126492 c.3143A>G p.E1048G 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>G p.S960R missense 0.00000855●●●●●●
189. 29126229 c.2880C>A p.S960R missense 0.00000855●●●●●●
190. 29126234 c.2885T>C p.I962T missense 0.00000855●●●●●●
191. 29126264 c.2915C>T p.S972F 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. 29122771 c.2290G>A p.A764T missense 0.00000845●●●●●●
197. 29126303 c.2954T>G p.V985G 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. 29126182 c.2833A>G p.T945A 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. 29125690 c.2341G>T p.A781S missense 0.00000838●●●●●●
206. 29126174 c.2825C>T p.T942I missense 0.00000838●●●●●●
207. 29101206 c.523C>T p.H175Y missense 0.00000837●●●●●●
208. 29098202 c.46A>G p.I16V missense 0.00000836●●●●●●
209. 29100782 c.233C>A p.A78E missense 0.00000836●●●●●●
210. 29116363 c.1622C>G p.A541G missense 0.00000836●●●●●●
211. 29122756 c.2275G>A p.G759R missense 0.00000836●●●●●●
212. 29126325 c.2976A>G p.I992M missense 0.00000836●●●●●●
213. 29104517 c.797A>G p.N266S missense 0.00000835●●●●●●
214. 29100790 c.241A>G p.R81G missense 0.00000834●●●●●●
215. 29100793 c.244G>A p.G82R missense 0.00000834●●●●●●
216. 29104502 c.782G>T p.R261L missense 0.00000834●●●●●●
217. 29104511 c.791A>G p.D264G missense 0.00000834●●●●●●
218. 29116359 c.1618A>G p.M540V missense 0.00000834●●●●●●
219. 29121257 c.1981G>A p.G661R missense 0.00000834●●●●●●
220. 29122750 c.2269A>T p.M757L missense 0.00000834●●●●●●
221. 29125963 c.2614G>C p.E872Q missense 0.00000834●●●●●●
222. 29125966 c.2617C>A p.Q873K missense 0.00000834●●●●●●
223. 29125967 c.2618A>C p.Q873P missense 0.00000834●●●●●●
224. 29100803 c.254T>A p.I85N missense 0.00000833●●●●●●
225. 29125938 c.2589G>A p.M863I missense 0.00000833●●●●●●
226. 29100871 c.322A>G p.T108A missense 0.00000833●●●●●●
227. 29104490 c.770A>G p.Q257R missense 0.00000833●●●●●●
228. 29121252 c.1976A>T p.N659I missense 0.00000833●●●●●●
229. 29125897 c.2548G>A p.E850K missense 0.00000833●●●●●●
230. 29125921 c.2572G>C p.A858P missense 0.00000833●●●●●●
231. 29125928 c.2579A>T p.E860V missense 0.00000833●●●●●●
232. 29125991 c.2642C>T p.T881I missense 0.00000833●●●●●●
233. 29125997 c.2648C>G p.S883C missense 0.00000833●●●●●●
234. 29126013 c.2664C>A p.F888L missense 0.00000833●●●●●●
235. 29126021 c.2672C>G p.P891R missense 0.00000833●●●●●●
236. 29126159 c.2810A>C p.E937A missense 0.00000833●●●●●●
237. 29126689 c.3340C>G p.Q1114E missense 0.00000833●●●●●●
238. 29116354 c.1613C>G p.P538R missense 0.00000832●●●●●●
239. 29100852 c.303A>G p.I101M missense 0.00000832●●●●●●
240. 29116176 c.1435A>G p.K479E missense 0.00000832●●●●●●
241. 29126027 c.2678C>T p.S893F missense 0.00000832●●●●●●
242. 29125874 c.2525G>A p.G842D missense 0.00000831●●●●●●
243. 29099775 c.91A>G p.T31A missense 0.00000831●●●●●●
244. 29098214 c.58G>A p.V20I missense 0.00000831●●●●●●
245. 29099781 c.97A>C p.N33H missense 0.00000831●●●●●●
246. 29102058 c.536T>C p.M179T missense 0.00000831●●●●●●
247. 29104442 c.722C>T p.A241V missense 0.00000831●●●●●●
248. 29104450 c.730G>C p.G244R missense 0.00000831●●●●●●
249. 29126066 c.2717T>C p.I906T missense 0.00000831●●●●●●
250. 29126071 c.2722A>C p.T908P missense 0.00000831●●●●●●
251. 29126071 c.2722A>G p.T908A missense 0.00000831●●●●●●
252. 29126146 c.2797G>A p.V933M missense 0.00000830●●●●●●
253. 29101074 c.391G>A p.A131T missense 0.00000830●●●●●●
254. 29102073 c.551C>T p.T184I missense 0.00000830●●●●●●
255. 29116183 c.1442T>C p.I481T missense 0.00000830●●●●●●
256. 29116346 c.1605C>A p.D535E missense 0.00000830●●●●●●
257. 29116346 c.1605C>G p.D535E missense 0.00000830●●●●●●
258. 29122730 c.2249C>T p.A750V missense 0.00000830●●●●●●
259. 29098221 c.65G>A p.S22N missense 0.00000830●●●●●●
260. 29101074 c.391G>T p.A131S missense 0.00000830●●●●●●
261. 29102069 c.547G>A p.A183T missense 0.00000830●●●●●●
262. 29104848 c.1011T>G p.I337M missense 0.00000830●●●●●●
263. 29110954 c.1019T>C p.V340A missense 0.00000830●●●●●●
264. 29121222 c.1946G>T p.G649V missense 0.00000830●●●●●●
265. 29121228 c.1952T>C p.I651T missense 0.00000830●●●●●●
266. 29121230 c.1954G>C p.E652Q missense 0.00000830●●●●●●
267. 29125729 c.2380G>C p.D794H missense 0.00000830●●●●●●
268. 29125859 c.2510C>G p.A837G missense 0.00000830●●●●●●
269. 29126076 c.2727A>C p.E909D missense 0.00000830●●●●●●
270. 29126078 c.2729G>T p.R910I missense 0.00000830●●●●●●
271. 29126086 c.2737T>C p.S913P missense 0.00000830●●●●●●
272. 29126090 c.2741C>G p.S914C missense 0.00000830●●●●●●
273. 29126359 c.3010G>A p.G1004S missense 0.00000830●●●●●●
274. 29099820 c.136C>T p.R46W missense 0.00000829●●●●●●
275. 29099830 c.146G>A p.R49H missense 0.00000829●●●●●●
276. 29102136 c.614C>T p.P205L missense 0.00000829●●●●●●
277. 29126663 c.3314C>T p.T1105I missense 0.00000829●●●●●●
278. 29121170 c.1894C>A p.L632M missense 0.00000829●●●●●●
279. 29102135 c.613C>T p.P205S missense 0.00000829●●●●●●
280. 29104678 c.841G>A p.V281I missense 0.00000829●●●●●●
281. 29099796 c.112C>T p.L38F missense 0.00000829●●●●●●
282. 29104691 c.854A>T p.Q285L missense 0.00000829●●●●●●
283. 29104805 c.968T>C p.I323T missense 0.00000829●●●●●●
284. 29104820 c.983A>G p.Q328R missense 0.00000829●●●●●●
285. 29126107 c.2758G>A p.V920I missense 0.00000829●●●●●●
286. 29099806 c.122A>T p.H41L missense 0.00000829●●●●●●
287. 29099844 c.160G>A p.A54T missense 0.00000829●●●●●●
288. 29099854 c.170C>G p.A57G missense 0.00000829●●●●●●
289. 29099856 c.172C>T p.L58F missense 0.00000829●●●●●●
290. 29099866 c.182G>T p.G61V missense 0.00000829●●●●●●
291. 29099869 c.185A>G p.E62G missense 0.00000829●●●●●●
292. 29099870 c.186G>T p.E62D missense 0.00000829●●●●●●
293. 29099874 c.190C>G p.L64V missense 0.00000829●●●●●●
294. 29099880 c.196A>G p.K66E missense 0.00000829●●●●●●
295. 29101083 c.400G>A p.A134T missense 0.00000829●●●●●●
296. 29101087 c.404G>C p.R135T missense 0.00000829●●●●●●
297. 29101176 c.493G>T p.V165F missense 0.00000829●●●●●●
298. 29102084 c.562G>A p.E188K missense 0.00000829●●●●●●
299. 29102139 c.617C>A p.A206D missense 0.00000829●●●●●●
300. 29104690 c.853C>G p.Q285E missense 0.00000829●●●●●●
301. 29104796 c.959A>G p.Y320C missense 0.00000829●●●●●●
302. 29104810 c.973A>G p.T325A missense 0.00000829●●●●●●
303. 29104835 c.998T>G p.I333S missense 0.00000829●●●●●●
304. 29104837 c.1000G>A p.V334M missense 0.00000829●●●●●●
305. 29110980 c.1045G>A p.D349N missense 0.00000829●●●●●●
306. 29111209 c.1274A>C p.H425P missense 0.00000829●●●●●●
307. 29116207 c.1466T>C p.V489A missense 0.00000829●●●●●●
308. 29116323 c.1582C>G p.P528A missense 0.00000829●●●●●●
309. 29118755 c.1693A>G p.R565G missense 0.00000829●●●●●●
310. 29118769 c.1707G>T p.Q569H missense 0.00000829●●●●●●
311. 29118923 c.1861G>A p.A621T missense 0.00000829●●●●●●
312. 29121156 c.1880T>C p.L627S missense 0.00000829●●●●●●
313. 29121180 c.1904G>A p.C635Y missense 0.00000829●●●●●●
314. 29121186 c.1910G>A p.C637Y missense 0.00000829●●●●●●
315. 29121189 c.1913G>A p.G638E missense 0.00000829●●●●●●
316. 29121192 c.1916A>G p.K639R missense 0.00000829●●●●●●
317. 29121204 c.1928G>T p.G643V missense 0.00000829●●●●●●
318. 29121210 c.1934C>A p.T645N missense 0.00000829●●●●●●
319. 29122715 c.2234C>A p.T745K missense 0.00000829●●●●●●
320. 29125751 c.2402A>G p.Q801R missense 0.00000829●●●●●●
321. 29125766 c.2417C>T p.S806L missense 0.00000829●●●●●●
322. 29125817 c.2468A>G p.D823G missense 0.00000829●●●●●●
323. 29125838 c.2489G>C p.G830A missense 0.00000829●●●●●●
324. 29125846 c.2497T>A p.F833I missense 0.00000829●●●●●●
325. 29126098 c.2749G>A p.A917T missense 0.00000829●●●●●●
326. 29126131 c.2782A>G p.M928V missense 0.00000829●●●●●●
327. 29126369 c.3020A>G p.H1007R missense 0.00000829●●●●●●
328. 29126370 c.3021T>A p.H1007Q missense 0.00000829●●●●●●
329. 29126378 c.3029A>T p.D1010V missense 0.00000829●●●●●●
330. 29126386 c.3037T>C p.Y1013H missense 0.00000829●●●●●●
331. 29126620 c.3271G>A p.E1091K missense 0.00000829●●●●●●
332. 29126653 c.3304A>G p.T1102A missense 0.00000829●●●●●●
333. 29104726 c.889G>A p.D297N missense 0.00000828●●●●●●
334. 29118876 c.1814A>T p.D605V missense 0.00000828●●●●●●
335. 29126485 c.3136G>A p.V1046M missense 0.00000828●●●●●●
336. 29126465 c.3116C>T p.A1039V missense 0.00000828●●●●●●
337. 29101141 c.458A>G p.N153S missense 0.00000828●●●●●●
338. 29111041 c.1106A>T p.K369M missense 0.00000828●●●●●●
339. 29118789 c.1727A>T p.Q576L missense 0.00000828●●●●●●
340. 29118846 c.1784A>G p.H595R missense 0.00000828●●●●●●
341. 29126423 c.3074C>T p.P1025L missense 0.00000828●●●●●●
342. 29111030 c.1095G>C p.R365S missense 0.00000828●●●●●●
343. 29104700 c.863T>G p.V288G missense 0.00000828●●●●●●
344. 29111019 c.1084A>G p.K362E missense 0.00000828●●●●●●
345. 29111179 c.1244C>A p.A415D missense 0.00000828●●●●●●
346. 29101146 c.463A>G p.N155D missense 0.00000828●●●●●●
347. 29102172 c.650C>G p.T217R missense 0.00000828●●●●●●
348. 29102180 c.658A>G p.I220V missense 0.00000828●●●●●●
349. 29104721 c.884T>C p.V295A missense 0.00000828●●●●●●
350. 29104745 c.908C>T p.S303F missense 0.00000828●●●●●●
351. 29104768 c.931A>G p.T311A missense 0.00000828●●●●●●
352. 29104786 c.949G>A p.E317K missense 0.00000828●●●●●●
353. 29111032 c.1097G>A p.S366N missense 0.00000828●●●●●●
354. 29111040 c.1105A>G p.K369E missense 0.00000828●●●●●●
355. 29111058 c.1123A>G p.I375V missense 0.00000828●●●●●●
356. 29111070 c.1135G>A p.V379M missense 0.00000828●●●●●●
357. 29111088 c.1153G>T p.G385C missense 0.00000828●●●●●●
358. 29111137 c.1202T>C p.M401T missense 0.00000828●●●●●●
359. 29111140 c.1205A>G p.D402G missense 0.00000828●●●●●●
360. 29111150 c.1215C>G p.S405R missense 0.00000828●●●●●●
361. 29111187 c.1252G>A p.E418K missense 0.00000828●●●●●●
362. 29111191 c.1256A>T p.D419V missense 0.00000828●●●●●●
363. 29116236 c.1495C>A p.L499M missense 0.00000828●●●●●●
364. 29116240 c.1499T>G p.I500R missense 0.00000828●●●●●●
365. 29116248 c.1507G>A p.V503M missense 0.00000828●●●●●●
366. 29116249 c.1508T>G p.V503G missense 0.00000828●●●●●●
367. 29116261 c.1520G>T p.C507F missense 0.00000828●●●●●●
368. 29116264 c.1523A>T p.H508L missense 0.00000828●●●●●●
369. 29116284 c.1543G>T p.V515F missense 0.00000828●●●●●●
370. 29116296 c.1555G>T p.D519Y missense 0.00000828●●●●●●
371. 29116318 c.1577G>C p.S526T missense 0.00000828●●●●●●
372. 29118783 c.1721A>G p.D574G missense 0.00000828●●●●●●
373. 29118821 c.1759A>G p.T587A missense 0.00000828●●●●●●
374. 29118857 c.1795T>C p.C599R missense 0.00000828●●●●●●
375. 29118861 c.1799G>A p.R600K missense 0.00000828●●●●●●
376. 29118888 c.1826G>T p.G609V missense 0.00000828●●●●●●
377. 29118893 c.1831G>A p.G611R missense 0.00000828●●●●●●
378. 29122529 c.2048G>A p.G683E missense 0.00000828●●●●●●
379. 29122544 c.2063G>A p.G688E missense 0.00000828●●●●●●
380. 29122547 c.2066G>T p.G689V missense 0.00000828●●●●●●
381. 29122623 c.2142G>T p.M714I missense 0.00000828●●●●●●
382. 29122643 c.2162A>G p.H721R missense 0.00000828●●●●●●
383. 29122669 c.2188A>G p.T730A missense 0.00000828●●●●●●
384. 29122693 c.2212G>A p.A738T missense 0.00000828●●●●●●
385. 29122696 c.2215A>G p.I739V missense 0.00000828●●●●●●
386. 29122696 c.2215A>T p.I739F missense 0.00000828●●●●●●
387. 29125808 c.2459A>C p.E820A missense 0.00000828●●●●●●
388. 29125808 c.2459A>G p.E820G missense 0.00000828●●●●●●
389. 29126435 c.3086T>C p.V1029A missense 0.00000828●●●●●●
390. 29126450 c.3101C>T p.A1034V missense 0.00000828●●●●●●
391. 29126471 c.3122G>A p.G1041E missense 0.00000828●●●●●●
392. 29126561 c.3212C>G p.A1071G missense 0.00000828●●●●●●
393. 29126575 c.3226G>C p.V1076L missense 0.00000828●●●●●●
394. 29126576 c.3227T>G p.V1076G 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.