DSG2 variants in ExAC

DSG2 gene summary
DSG2 variants in DCM

The table below lists the DSG2 variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 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. 29102037 c.524-9T>A splice site 0.00681605●●●●●●
5. 29101156 c.473T>G p.V158G missense 0.00537697●●●●●●
6. 29100761 c.217-5G>T splice site 0.00362092●●●●●●
7. 29126108 c.2759T>G p.V920G missense 0.00322570●●●●●●
8. 29111109 c.1174G>A p.V392I missense 0.00256708●●●●●●
9. 29116284 c.1543G>A p.V515I missense 0.00239381●●●●●●
10. 29078258 c.44T>A p.L15Q missense 0.00214900●●●●●●
11. 29125936 c.2587A>C p.M863L missense 0.00194147●●●●●●
12. 29126057 c.2708C>T p.T903I missense 0.00187839●●●●●●
13. 29125996 c.2647T>C p.S883P missense 0.00187488●●●●●●
14. 29099850 c.166G>A p.V56M missense 0.00187278●●●●●●
15. 29115328 c.1376A>G p.Y459C missense 0.00124262●●●●●●
16. 29115255 c.1303G>A p.D435N missense 0.00121286●●●●●●
17. 29126558 c.3209C>T p.T1070M missense 0.00117614●●●●●●
18. 29100815 c.266A>G p.Y89C missense 0.00104900●●●●●●
19. 29126235 c.2886T>G p.I962M missense 0.00080383●●●●●●
20. 29110986 c.1051A>G p.S351G missense 0.00072916●●●●●●
21. 29126431 c.3082G>A p.G1028S missense 0.00062942●●●●●●
22. 29116291 c.1550C>T p.A517V missense 0.00057155●●●●●●
23. 29104840 c.1003A>G p.T335A missense 0.00055579●●●●●●
24. 29118843 c.1781T>C p.L594P missense 0.00055491●●●●●●
25. 29126255 c.2906C>T p.A969V missense 0.00054832●●●●●●
26. 29126593 c.3244C>G p.P1082A missense 0.00046398●●●●●●
27. 29126644 c.3295A>G p.T1099A missense 0.00040627●●●●●●
28. 29125717 c.2368C>T p.H790Y missense 0.00039033●●●●●●
29. 29116338 c.1597G>A p.V533I missense 0.00032346●●●●●●
30. 29101120 c.437G>T p.R146L missense 0.00030653●●●●●●
31. 29126524 c.3175T>A p.S1059T missense 0.00028158●●●●●●
32. 29126129 c.2780C>T p.P927L missense 0.00026533●●●●●●
33. 29100770 c.221A>G p.H74R missense 0.00024359●●●●●●
34. 29118909 c.1847C>T p.A616V missense 0.00022368●●●●●●
35. 29098211 c.55A>G p.N19D missense 0.00019135●●●●●●
36. 29126099 c.2750C>T p.A917V missense 0.00018250●●●●●●
37. 29125688 c.2339C>T p.A780V missense 0.00017641●●●●●●
38. 29125676 c.2335-8C>T splice site 0.00016107●●●●●●
39. 29111219 c.1280+4_1280+5delAG splice site 0.00015754●●●●●●
40. 29125819 c.2470C>T p.R824C missense 0.00015742●●●●●●
41. 29099805 c.121C>A p.H41N missense 0.00013265●●●●●●
42. 29121188 c.1912G>A p.G638R missense 0.00012435●●●●●●
43. 29126615 c.3266G>A p.G1089D missense 0.00012433●●●●●●
44. 29125676 c.2335-8C>G splice site 0.00011020●●●●●●
45. 29104436 c.716T>C p.V239A missense 0.00009137●●●●●●
46. 29099782 c.98A>C p.N33T missense 0.00009135●●●●●●
47. 29125677 c.2335-7A>T splice site 0.00008469●●●●●●
48. 29126630 c.3281G>T p.G1094V missense 0.00008290●●●●●●
49. 29126632 c.3283C>A p.H1095N missense 0.00008290●●●●●●
50. 29126308 c.2959G>T p.V987F missense 0.00007586●●●●●●
51. 29125946 c.2597C>T p.A866V missense 0.00007501●●●●●●
52. 29118750 c.1688T>G p.L563R missense 0.00007460●●●●●●
53. 29101169 c.486T>A p.D162E missense 0.00007457●●●●●●
54. 29104712 c.875G>A p.R292H missense 0.00007455●●●●●●
55. 29111178 c.1243G>A p.A415T missense 0.00007454●●●●●●
56. 29122673 c.2192A>C p.Q731P missense 0.00007452●●●●●●
57. 29100818 c.269C>T p.T90I missense 0.00006659●●●●●●
58. 29116333 c.1592T>G p.F531C missense 0.00006633●●●●●●
59. 29126467 c.3118G>A p.V1040I missense 0.00006625●●●●●●
60. 29126444 c.3095C>T p.T1032I missense 0.00006625●●●●●●
61. 29115370 c.1418C>T p.S473L missense 0.00006208●●●●●●
62. 29104426 c.706A>G p.T236A missense 0.00005813●●●●●●
63. 29101113 c.430G>A p.E144K missense 0.00005800●●●●●●
64. 29122786 c.2305G>A p.E769K missense 0.00005188●●●●●●
65. 29104526 c.806T>C p.I269T missense 0.00005018●●●●●●
66. 29102067 c.545A>G p.N182S missense 0.00004979●●●●●●
67. 29099892 c.208A>G p.I70V missense 0.00004974●●●●●●
68. 29102123 c.601G>A p.V201I missense 0.00004973●●●●●●
69. 29126389 c.3040G>A p.V1014I missense 0.00004972●●●●●●
70. 29116266 c.1525G>A p.D509N missense 0.00004970●●●●●●
71. 29104699 c.862G>A p.V288I missense 0.00004970●●●●●●
72. 29115244 c.1292T>C p.L431S missense 0.00004848●●●●●●
73. 29125987 c.2638A>C p.N880H missense 0.00004167●●●●●●
74. 29126039 c.2690C>A p.A897D missense 0.00004161●●●●●●
75. 29126388 c.3039C>A p.Tyr1013Ter nonsense 0.00004144●●●●●●
76. 29126404 c.3055_3058delAGAG p.Glu1020AlafsTer18 frameshift 0.00004142●●●●●●
77. 29116219 c.1478A>G p.N493S missense 0.00004142●●●●●●
78. 29125820 c.2471G>A p.R824H missense 0.00004142●●●●●●
79. 29122514 c.2033G>C p.G678A missense 0.00004141●●●●●●
80. 29118854 c.1792G>A p.G598S missense 0.00004141●●●●●●
81. 29122577 c.2096G>T p.S699I missense 0.00004140●●●●●●
82. 29122809 c.2328C>A p.F776L missense 0.00003663●●●●●●
83. 29116384 c.1643G>A p.R548H missense 0.00003448●●●●●●
84. 29104546 c.826_828delGTG p.Val276del inframe 0.00003364●●●●●●
85. 29115256 c.1304A>G p.D435G missense 0.00003346●●●●●●
86. 29125709 c.2360A>G p.D787G missense 0.00003326●●●●●●
87. 29126345 c.2996C>T p.S999L missense 0.00003324●●●●●●
88. 29122723 c.2242G>A p.A748T missense 0.00003317●●●●●●
89. 29102103 c.581C>T p.S194L missense 0.00003317●●●●●●
90. 29126642 c.3293C>G p.S1098C missense 0.00003316●●●●●●
91. 29125840 c.2491C>T p.L831F missense 0.00003315●●●●●●
92. 29122715 c.2234C>T p.T745M missense 0.00003315●●●●●●
93. 29118769 c.1707G>C p.Q569H missense 0.00003314●●●●●●
94. 29101128 c.445G>A p.V149I missense 0.00003314●●●●●●
95. 29126575 c.3226G>T p.V1076L missense 0.00003314●●●●●●
96. 29116222 c.1481A>C p.D494A missense 0.00003314●●●●●●
97. 29116221 c.1480G>A p.D494N missense 0.00003314●●●●●●
98. 29122565 c.2084C>T p.T695M missense 0.00003313●●●●●●
99. 29104711 c.874C>T p.R292C missense 0.00003313●●●●●●
100. 29122485 c.2004G>A splice site 0.00003313●●●●●●
101. 29111139 c.1204G>A p.D402N missense 0.00003313●●●●●●
102. 29111130 c.1195G>A p.E399K missense 0.00003312●●●●●●
103. 29126461 c.3112A>G p.I1038V missense 0.00003312●●●●●●
104. 29115269 c.1317_1318delTG p.Val440GlyfsTer6 frameshift 0.00003173●●●●●●
105. 29115233 c.1281A>T p.R427S missense 0.00002648●●●●●●
106. 29100933 c.378+6A>T splice site 0.00002596●●●●●●
107. 29126246 c.2897G>C p.R966T missense 0.00002569●●●●●●
108. 29126297 c.2948G>A p.G983D missense 0.00002541●●●●●●
109. 29126297 c.2948G>T p.G983V missense 0.00002541●●●●●●
110. 29101207 c.523+1G>C essential splice site 0.00002525●●●●●●
111. 29100904 c.355C>T p.R119X nonsense 0.00002524●●●●●●
112. 29125972 c.2623A>G p.M875V missense 0.00002501●●●●●●
113. 29125995 c.2646_2648delCTC p.Ser884del inframe 0.00002500●●●●●●
114. 29101059 c.379-3C>T splice site 0.00002498●●●●●●
115. 29125859 c.2510C>A p.A837D missense 0.00002490●●●●●●
116. 29111223 c.1280+8A>G splice site 0.00002490●●●●●●
117. 29104828 c.991G>A p.E331K missense 0.00002487●●●●●●
118. 29101196 c.513G>T p.L171F missense 0.00002487●●●●●●
119. 29126615 c.3266G>T p.G1089V missense 0.00002487●●●●●●
120. 29099812 c.128A>G p.H43R missense 0.00002487●●●●●●
121. 29125754 c.2405A>G p.E802G missense 0.00002486●●●●●●
122. 29099859 c.175C>T p.R59W missense 0.00002486●●●●●●
123. 29101153 c.470C>T p.P157L missense 0.00002485●●●●●●
124. 29104717 c.880A>G p.K294E missense 0.00002485●●●●●●
125. 29118882 c.1820A>G p.Y607C missense 0.00002485●●●●●●
126. 29126432 c.3083G>A p.G1028D missense 0.00002485●●●●●●
127. 29118899 c.1837G>A p.A613T missense 0.00002485●●●●●●
128. 29116303 c.1562A>G p.D521G missense 0.00002485●●●●●●
129. 29118891 c.1829T>C p.L610P missense 0.00002485●●●●●●
130. 29122592 c.2111T>C p.I704T missense 0.00002484●●●●●●
131. 29122660 c.2179G>A p.G727S missense 0.00002484●●●●●●
132. 29126490 c.3141_3144delAGAA p.Arg1049PhefsTer2 frameshift 0.00002484●●●●●●
133. 29115349 c.1397C>T p.T466I missense 0.00001761●●●●●●
134. 29126218 c.2869C>G p.Q957E missense 0.00001704●●●●●●
135. 29126290 c.2941A>G p.N981D missense 0.00001698●●●●●●
136. 29125677 c.2335-7A>C splice site 0.00001694●●●●●●
137. 29121280 c.2001+3C>G splice site 0.00001692●●●●●●
138. 29126302 c.2953G>A p.V985I missense 0.00001690●●●●●●
139. 29104553 c.828+5C>T splice site 0.00001688●●●●●●
140. 29100768 c.219A>G p.I73M missense 0.00001683●●●●●●
141. 29100905 c.356G>T p.R119L missense 0.00001683●●●●●●
142. 29100905 c.356G>A p.R119Q missense 0.00001683●●●●●●
143. 29100769 c.220C>T p.H74Y missense 0.00001682●●●●●●
144. 29122754 c.2273C>T p.A758V missense 0.00001671●●●●●●
145. 29126702 c.3353C>T p.S1118F missense 0.00001669●●●●●●
146. 29118709 c.1652-5T>A splice site 0.00001669●●●●●●
147. 29125965 c.2616G>T p.E872D missense 0.00001667●●●●●●
148. 29100794 c.245G>T p.G82V missense 0.00001667●●●●●●
149. 29125997 c.2648C>T p.S883F missense 0.00001666●●●●●●
150. 29101058 c.379-4T>C splice site 0.00001666●●●●●●
151. 29125898 c.2549delA p.Ile851LeufsTer13 frameshift 0.00001666●●●●●●
152. 29126030 c.2681T>G p.L894W missense 0.00001665●●●●●●
153. 29100847 c.298G>C p.G100R missense 0.00001665●●●●●●
154. 29102049 c.527C>T p.T176I missense 0.00001664●●●●●●
155. 29126042 c.2693A>G p.N898S missense 0.00001664●●●●●●
156. 29116353 c.1612C>G p.P538A missense 0.00001664●●●●●●
157. 29104457 c.737G>A p.G246E missense 0.00001663●●●●●●
158. 29104441 c.721G>A p.A241T missense 0.00001662●●●●●●
159. 29126059 c.2710C>G p.Q904E missense 0.00001662●●●●●●
160. 29126065 c.2716A>G p.I906V missense 0.00001662●●●●●●
161. 29122733 c.2252C>T p.T751I missense 0.00001661●●●●●●
162. 29099782 c.98A>G p.N33S missense 0.00001661●●●●●●
163. 29104433 c.713C>T p.T238I missense 0.00001661●●●●●●
164. 29116182 c.1441A>G p.I481V missense 0.00001661●●●●●●
165. 29104401 c.691-10_691-6delTGCTC splice site 0.00001660●●●●●●
166. 29121225 c.1949C>T p.T650I missense 0.00001660●●●●●●
167. 29126665 c.3316A>G p.R1106G missense 0.00001659●●●●●●
168. 29126093 c.2744G>C p.R915T missense 0.00001659●●●●●●
169. 29126107 c.2758G>T p.V920L missense 0.00001658●●●●●●
170. 29102212 c.690G>A splice site 0.00001658●●●●●●
171. 29121161 c.1885C>T p.P629S missense 0.00001658●●●●●●
172. 29125783 c.2434G>A p.G812S missense 0.00001657●●●●●●
173. 29101149 c.466G>A p.E156K missense 0.00001657●●●●●●
174. 29111007 c.1072G>A p.A358T missense 0.00001657●●●●●●
175. 29102199 c.677C>T p.T226I missense 0.00001657●●●●●●
176. 29101119 c.436C>T p.R146C missense 0.00001657●●●●●●
177. 29125829 c.2480A>G p.D827G missense 0.00001657●●●●●●
178. 29099829 c.145C>T p.R49C missense 0.00001657●●●●●●
179. 29104714 c.877A>T p.I293L missense 0.00001657●●●●●●
180. 29104801 c.964C>T p.H322Y missense 0.00001657●●●●●●
181. 29104709 c.872C>T p.T291M missense 0.00001657●●●●●●
182. 29118861 c.1799delG p.Glu601LysfsTer18 frameshift 0.00001657●●●●●●
183. 29116245 c.1504C>T p.P502S missense 0.00001657●●●●●●
184. 29104798 c.961T>A p.F321I missense 0.00001657●●●●●●
185. 29125783 c.2434G>T p.G812C missense 0.00001657●●●●●●
186. 29118806 c.1744G>A p.E582K missense 0.00001657●●●●●●
187. 29099860 c.176G>A p.R59Q missense 0.00001657●●●●●●
188. 29101176 c.493_494insT p.G166Wfs*4 frameshift 0.00001657●●●●●●
189. 29104814 c.977A>T p.D326V missense 0.00001657●●●●●●
190. 29125819 c.2470C>G p.R824G missense 0.00001657●●●●●●
191. 29126462 c.3113T>C p.I1038T missense 0.00001656●●●●●●
192. 29126492 c.3143A>G p.E1048G missense 0.00001656●●●●●●
193. 29122516 c.2035G>A p.G679S missense 0.00001656●●●●●●
194. 29122591 c.2110A>G p.I704V missense 0.00001656●●●●●●
195. 29122607 c.2126A>G p.H709R missense 0.00001656●●●●●●
196. 29122560 c.2079A>C p.E693D missense 0.00001656●●●●●●
197. 29126458 c.3109A>G p.N1037D missense 0.00001656●●●●●●
198. 29122528 c.2047G>C p.G683R missense 0.00001656●●●●●●
199. 29122646 c.2165G>A p.R722K missense 0.00001656●●●●●●
200. 29111125 c.1190T>C p.V397A missense 0.00001656●●●●●●
201. 29115227 c.1281-6T>A splice site 0.00001412●●●●●●
202. 29115250 c.1298A>G p.D433G missense 0.00001159●●●●●●
203. 29115255 c.1303G>C p.D435H missense 0.00001123●●●●●●
204. 29115277 c.1325C>A p.S442Y missense 0.00001023●●●●●●
205. 29115286 c.1334C>A p.S445Y missense 0.00000991●●●●●●
206. 29115295 c.1343A>G p.K448R missense 0.00000969●●●●●●
207. 29115301 c.1349C>T p.A450V missense 0.00000951●●●●●●
208. 29115307 c.1355T>C p.L452P missense 0.00000932●●●●●●
209. 29115315 c.1363T>C p.F455L missense 0.00000912●●●●●●
210. 29115379 c.1423+4A>C splice site 0.00000899●●●●●●
211. 29115375 c.1423G>C p.D475H missense 0.00000893●●●●●●
212. 29115340 c.1388G>T p.G463V missense 0.00000884●●●●●●
213. 29122789 c.2308G>A p.E770K missense 0.00000873●●●●●●
214. 29101210 c.523+4A>T splice site 0.00000869●●●●●●
215. 29116384 c.1643G>T p.R548L missense 0.00000862●●●●●●
216. 29116383 c.1642C>T p.R548C missense 0.00000860●●●●●●
217. 29125918 c.2569C>T p.P857S missense 0.00000857●●●●●●
218. 29126257 c.2908C>T p.P970S missense 0.00000856●●●●●●
219. 29126264 c.2915C>T p.S972F missense 0.00000855●●●●●●
220. 29126234 c.2885T>C p.I962T missense 0.00000855●●●●●●
221. 29126229 c.2880C>G p.S960R missense 0.00000855●●●●●●
222. 29126229 c.2880C>A p.S960R missense 0.00000855●●●●●●
223. 29116377 c.1636A>G p.I546V missense 0.00000851●●●●●●
224. 29126212 c.2863C>T p.P955S missense 0.00000850●●●●●●
225. 29126293 c.2944G>A p.E982K missense 0.00000848●●●●●●
226. 29100759 c.217-7A>G splice site 0.00000847●●●●●●
227. 29126300 c.2951C>A p.T984K missense 0.00000846●●●●●●
228. 29122771 c.2290G>A p.A764T missense 0.00000845●●●●●●
229. 29126303 c.2954T>G p.V985G missense 0.00000845●●●●●●
230. 29122768 c.2287G>A p.A763T missense 0.00000843●●●●●●
231. 29101207 c.523+1G>T essential splice site 0.00000842●●●●●●
232. 29116164 c.1424-1G>T essential splice site 0.00000842●●●●●●
233. 29126185 c.2836A>G p.M946V missense 0.00000841●●●●●●
234. 29126314 c.2965G>C p.E989Q missense 0.00000840●●●●●●
235. 29121272 c.1996G>C p.D666H missense 0.00000840●●●●●●
236. 29126182 c.2833A>G p.T945A missense 0.00000840●●●●●●
237. 29104540 c.820A>G p.N274D missense 0.00000839●●●●●●
238. 29116365 c.1624G>C p.E542Q missense 0.00000838●●●●●●
239. 29126174 c.2825C>T p.T942I missense 0.00000838●●●●●●
240. 29125690 c.2341G>T p.A781S missense 0.00000838●●●●●●
241. 29098199 c.46-3C>T splice site 0.00000838●●●●●●
242. 29101206 c.523C>T p.H175Y missense 0.00000837●●●●●●
243. 29100782 c.233C>A p.A78E missense 0.00000836●●●●●●
244. 29122756 c.2275G>A p.G759R missense 0.00000836●●●●●●
245. 29116363 c.1622C>G p.A541G missense 0.00000836●●●●●●
246. 29118706 c.1652-8C>T splice site 0.00000836●●●●●●
247. 29126325 c.2976A>G p.I992M missense 0.00000836●●●●●●
248. 29098202 c.46A>G p.I16V missense 0.00000836●●●●●●
249. 29099763 c.82-3T>C splice site 0.00000835●●●●●●
250. 29104517 c.797A>G p.N266S missense 0.00000835●●●●●●
251. 29122750 c.2269A>T p.M757L missense 0.00000834●●●●●●
252. 29099765 c.82-1G>A essential splice site 0.00000834●●●●●●
253. 29121257 c.1981G>A p.G661R missense 0.00000834●●●●●●
254. 29116359 c.1618A>G p.M540V missense 0.00000834●●●●●●
255. 29104511 c.791A>G p.D264G missense 0.00000834●●●●●●
256. 29100790 c.241A>G p.R81G missense 0.00000834●●●●●●
257. 29125966 c.2617C>A p.Q873K missense 0.00000834●●●●●●
258. 29100793 c.244G>A p.G82R missense 0.00000834●●●●●●
259. 29125967 c.2618delA p.Thr874LeufsTer29 frameshift 0.00000834●●●●●●
260. 29125967 c.2618A>C p.Q873P missense 0.00000834●●●●●●
261. 29104502 c.782G>T p.R261L missense 0.00000834●●●●●●
262. 29125963 c.2614G>C p.E872Q missense 0.00000834●●●●●●
263. 29126013 c.2664C>A p.F888L missense 0.00000833●●●●●●
264. 29100871 c.322A>G p.T108A missense 0.00000833●●●●●●
265. 29126159 c.2810A>C p.E937A missense 0.00000833●●●●●●
266. 29099768 c.84C>G splice site 0.00000833●●●●●●
267. 29125938 c.2589G>A p.M863I missense 0.00000833●●●●●●
268. 29126021 c.2672C>G p.P891R missense 0.00000833●●●●●●
269. 29125921 c.2572G>C p.A858P missense 0.00000833●●●●●●
270. 29100803 c.254T>A p.I85N missense 0.00000833●●●●●●
271. 29125991 c.2642C>T p.T881I missense 0.00000833●●●●●●
272. 29104490 c.770A>G p.Q257R missense 0.00000833●●●●●●
273. 29125928 c.2579A>T p.E860V missense 0.00000833●●●●●●
274. 29126689 c.3340C>G p.Q1114E missense 0.00000833●●●●●●
275. 29125997 c.2648C>G p.S883C missense 0.00000833●●●●●●
276. 29121252 c.1976A>T p.N659I missense 0.00000833●●●●●●
277. 29125897 c.2548G>A p.E850K missense 0.00000833●●●●●●
278. 29099775 c.91delA p.Thr31GlnfsTer14 frameshift 0.00000832●●●●●●
279. 29116176 c.1435A>G p.K479E missense 0.00000832●●●●●●
280. 29100820 c.271G>T p.G91X nonsense 0.00000832●●●●●●
281. 29126027 c.2678C>T p.S893F missense 0.00000832●●●●●●
282. 29100852 c.303A>G p.I101M missense 0.00000832●●●●●●
283. 29116354 c.1613C>G p.P538R missense 0.00000832●●●●●●
284. 29104661 c.829-5T>C splice site 0.00000832●●●●●●
285. 29104658 c.829-8T>C splice site 0.00000832●●●●●●
286. 29125874 c.2525G>A p.G842D missense 0.00000831●●●●●●
287. 29104442 c.722C>T p.A241V missense 0.00000831●●●●●●
288. 29099781 c.97A>C p.N33H missense 0.00000831●●●●●●
289. 29126066 c.2717T>C p.I906T missense 0.00000831●●●●●●
290. 29104665 c.829-1_839delGCTTGAAGGGAT essential splice site 0.00000831●●●●●●
291. 29104450 c.730G>C p.G244R missense 0.00000831●●●●●●
292. 29102058 c.536T>C p.M179T missense 0.00000831●●●●●●
293. 29104858 c.1014+7A>G splice site 0.00000831●●●●●●
294. 29099775 c.91A>G p.T31A missense 0.00000831●●●●●●
295. 29126071 c.2722A>C p.T908P missense 0.00000831●●●●●●
296. 29098214 c.58G>A p.V20I missense 0.00000831●●●●●●
297. 29126071 c.2722A>G p.T908A missense 0.00000831●●●●●●
298. 29110949 c.1015-1delG essential splice site 0.00000831●●●●●●
299. 29118943 c.1879+2T>C essential splice site 0.00000830●●●●●●
300. 29126076 c.2727A>C p.E909D missense 0.00000830●●●●●●
301. 29118940 c.1878A>G splice site 0.00000830●●●●●●
302. 29126359 c.3010G>A p.G1004S missense 0.00000830●●●●●●
303. 29104848 c.1011T>G p.I337M missense 0.00000830●●●●●●
304. 29110951 c.1016delA p.Val340Ter frameshift 0.00000830●●●●●●
305. 29116183 c.1442T>C p.I481T missense 0.00000830●●●●●●
306. 29121228 c.1952T>C p.I651T missense 0.00000830●●●●●●
307. 29126078 c.2729G>T p.R910I missense 0.00000830●●●●●●
308. 29118946 c.1879+5G>T splice site 0.00000830●●●●●●
309. 29125859 c.2510C>G p.A837G missense 0.00000830●●●●●●
310. 29101074 c.391G>A p.A131T missense 0.00000830●●●●●●
311. 29110954 c.1019T>C p.V340A missense 0.00000830●●●●●●
312. 29116346 c.1605C>A p.D535E missense 0.00000830●●●●●●
313. 29121230 c.1954G>C p.E652Q missense 0.00000830●●●●●●
314. 29126086 c.2737T>C p.S913P missense 0.00000830●●●●●●
315. 29122730 c.2249C>T p.A750V missense 0.00000830●●●●●●
316. 29102069 c.547G>A p.A183T missense 0.00000830●●●●●●
317. 29104413 c.693A>G splice site 0.00000830●●●●●●
318. 29116346 c.1605C>G p.D535E missense 0.00000830●●●●●●
319. 29126146 c.2797G>A p.V933M missense 0.00000830●●●●●●
320. 29125729 c.2380G>C p.D794H missense 0.00000830●●●●●●
321. 29098221 c.65G>A p.S22N missense 0.00000830●●●●●●
322. 29126090 c.2741C>G p.S914C missense 0.00000830●●●●●●
323. 29121222 c.1946G>T p.G649V missense 0.00000830●●●●●●
324. 29101074 c.391G>T p.A131S missense 0.00000830●●●●●●
325. 29098244 c.81+7A>G splice site 0.00000830●●●●●●
326. 29102073 c.551C>T p.T184I missense 0.00000830●●●●●●
327. 29104678 c.841G>A p.V281I missense 0.00000829●●●●●●
328. 29118755 c.1693A>G p.R565G missense 0.00000829●●●●●●
329. 29099854 c.170C>G p.A57G missense 0.00000829●●●●●●
330. 29099806 c.122A>T p.H41L missense 0.00000829●●●●●●
331. 29102220 c.690+8A>T splice site 0.00000829●●●●●●
332. 29104691 c.854A>T p.Q285L missense 0.00000829●●●●●●
333. 29121180 c.1904G>A p.C635Y missense 0.00000829●●●●●●
334. 29125751 c.2402A>G p.Q801R missense 0.00000829●●●●●●
335. 29099866 c.182G>T p.G61V missense 0.00000829●●●●●●
336. 29126098 c.2749G>A p.A917T missense 0.00000829●●●●●●
337. 29122715 c.2234C>A p.T745K missense 0.00000829●●●●●●
338. 29102136 c.614C>T p.P205L missense 0.00000829●●●●●●
339. 29104810 c.973A>G p.T325A missense 0.00000829●●●●●●
340. 29126653 c.3304A>G p.T1102A missense 0.00000829●●●●●●
341. 29126386 c.3037T>C p.Y1013H missense 0.00000829●●●●●●
342. 29102139 c.617C>A p.A206D missense 0.00000829●●●●●●
343. 29099880 c.196A>G p.K66E missense 0.00000829●●●●●●
344. 29101083 c.400G>A p.A134T missense 0.00000829●●●●●●
345. 29118769 c.1707G>T p.Q569H missense 0.00000829●●●●●●
346. 29099856 c.172C>T p.L58F missense 0.00000829●●●●●●
347. 29099820 c.136C>T p.R46W missense 0.00000829●●●●●●
348. 29104805 c.968T>C p.I323T missense 0.00000829●●●●●●
349. 29121186 c.1910G>A p.C637Y missense 0.00000829●●●●●●
350. 29126369 c.3020A>G p.H1007R missense 0.00000829●●●●●●
351. 29121204 c.1928G>T p.G643V missense 0.00000829●●●●●●
352. 29099869 c.185A>G p.E62G missense 0.00000829●●●●●●
353. 29104835 c.998T>G p.I333S missense 0.00000829●●●●●●
354. 29126107 c.2758G>A p.V920I missense 0.00000829●●●●●●
355. 29099796 c.112C>T p.L38F missense 0.00000829●●●●●●
356. 29125838 c.2489G>C p.G830A missense 0.00000829●●●●●●
357. 29118923 c.1861G>A p.A621T missense 0.00000829●●●●●●
358. 29111209 c.1274A>C p.H425P missense 0.00000829●●●●●●
359. 29101087 c.404G>C p.R135T missense 0.00000829●●●●●●
360. 29099830 c.146G>A p.R49H missense 0.00000829●●●●●●
361. 29099844 c.160G>A p.A54T missense 0.00000829●●●●●●
362. 29126663 c.3314C>T p.T1105I missense 0.00000829●●●●●●
363. 29116323 c.1582C>G p.P528A missense 0.00000829●●●●●●
364. 29121157 c.1881G>A splice site 0.00000829●●●●●●
365. 29116207 c.1466T>C p.V489A missense 0.00000829●●●●●●
366. 29121210 c.1934C>A p.T645N missense 0.00000829●●●●●●
367. 29121170 c.1894C>A p.L632M missense 0.00000829●●●●●●
368. 29121189 c.1913G>A p.G638E missense 0.00000829●●●●●●
369. 29126370 c.3021T>A p.H1007Q missense 0.00000829●●●●●●
370. 29099870 c.186G>T p.E62D missense 0.00000829●●●●●●
371. 29125817 c.2468A>G p.D823G missense 0.00000829●●●●●●
372. 29125766 c.2417C>T p.S806L missense 0.00000829●●●●●●
373. 29102135 c.613C>T p.P205S missense 0.00000829●●●●●●
374. 29110980 c.1045G>A p.D349N missense 0.00000829●●●●●●
375. 29104690 c.853C>G p.Q285E missense 0.00000829●●●●●●
376. 29104820 c.983A>G p.Q328R missense 0.00000829●●●●●●
377. 29125846 c.2497T>A p.F833I missense 0.00000829●●●●●●
378. 29121156 c.1880T>C p.L627S missense 0.00000829●●●●●●
379. 29101176 c.493G>T p.V165F missense 0.00000829●●●●●●
380. 29104837 c.1000G>A p.V334M missense 0.00000829●●●●●●
381. 29104796 c.959A>G p.Y320C missense 0.00000829●●●●●●
382. 29126131 c.2782A>G p.M928V missense 0.00000829●●●●●●
383. 29102213 c.690+1G>A essential splice site 0.00000829●●●●●●
384. 29126620 c.3271G>A p.E1091K missense 0.00000829●●●●●●
385. 29126378 c.3029A>T p.D1010V missense 0.00000829●●●●●●
386. 29121192 c.1916A>G p.K639R missense 0.00000829●●●●●●
387. 29102084 c.562G>A p.E188K missense 0.00000829●●●●●●
388. 29099874 c.190C>G p.L64V missense 0.00000829●●●●●●
389. 29118826 c.1764_1765delCA p.Thr589SerfsTer3 frameshift 0.00000828●●●●●●
390. 29111023 c.1088C>A p.S363X nonsense 0.00000828●●●●●●
391. 29122693 c.2212G>A p.A738T missense 0.00000828●●●●●●
392. 29122643 c.2162A>G p.H721R missense 0.00000828●●●●●●
393. 29104745 c.908C>T p.S303F missense 0.00000828●●●●●●
394. 29104700 c.863T>G p.V288G missense 0.00000828●●●●●●
395. 29111030 c.1095G>C p.R365S missense 0.00000828●●●●●●
396. 29118876 c.1814A>T p.D605V missense 0.00000828●●●●●●
397. 29126471 c.3122G>A p.G1041E missense 0.00000828●●●●●●
398. 29122529 c.2048G>A p.G683E missense 0.00000828●●●●●●
399. 29111041 c.1106A>T p.K369M missense 0.00000828●●●●●●
400. 29125808 c.2459A>C p.E820A missense 0.00000828●●●●●●
401. 29118821 c.1759A>G p.T587A missense 0.00000828●●●●●●
402. 29111070 c.1135G>A p.V379M missense 0.00000828●●●●●●
403. 29116240 c.1499T>G p.I500R missense 0.00000828●●●●●●
404. 29116249 c.1508T>G p.V503G missense 0.00000828●●●●●●
405. 29126450 c.3101C>T p.A1034V missense 0.00000828●●●●●●
406. 29118893 c.1831G>A p.G611R missense 0.00000828●●●●●●
407. 29111191 c.1256A>T p.D419V missense 0.00000828●●●●●●
408. 29111150 c.1215C>G p.S405R missense 0.00000828●●●●●●
409. 29111032 c.1097G>A p.S366N missense 0.00000828●●●●●●
410. 29118833 c.1771_1772delTG p.Cys591Ter frameshift 0.00000828●●●●●●
411. 29122696 c.2215A>G p.I739V missense 0.00000828●●●●●●
412. 29116318 c.1577G>C p.S526T missense 0.00000828●●●●●●
413. 29116284 c.1543G>T p.V515F missense 0.00000828●●●●●●
414. 29104768 c.931A>G p.T311A missense 0.00000828●●●●●●
415. 29122544 c.2063G>A p.G688E missense 0.00000828●●●●●●
416. 29122475 c.2002-8T>C splice site 0.00000828●●●●●●
417. 29118789 c.1727A>T p.Q576L missense 0.00000828●●●●●●
418. 29104726 c.889G>A p.D297N missense 0.00000828●●●●●●
419. 29101141 c.458A>G p.N153S missense 0.00000828●●●●●●
420. 29125808 c.2459A>G p.E820G missense 0.00000828●●●●●●
421. 29111137 c.1202T>C p.M401T missense 0.00000828●●●●●●
422. 29116261 c.1520G>T p.C507F missense 0.00000828●●●●●●
423. 29102172 c.650C>G p.T217R missense 0.00000828●●●●●●
424. 29126435 c.3086T>C p.V1029A missense 0.00000828●●●●●●
425. 29118783 c.1721A>G p.D574G missense 0.00000828●●●●●●
426. 29111088 c.1153G>T p.G385C missense 0.00000828●●●●●●
427. 29111040 c.1105A>G p.K369E missense 0.00000828●●●●●●
428. 29116296 c.1555G>T p.D519Y missense 0.00000828●●●●●●
429. 29104786 c.949G>A p.E317K missense 0.00000828●●●●●●
430. 29111019 c.1084A>G p.K362E missense 0.00000828●●●●●●
431. 29104739 c.902delT p.Ile301LysfsTer23 frameshift 0.00000828●●●●●●
432. 29122696 c.2215A>T p.I739F missense 0.00000828●●●●●●
433. 29126576 c.3227T>G p.V1076G missense 0.00000828●●●●●●
434. 29118846 c.1784A>G p.H595R missense 0.00000828●●●●●●
435. 29126561 c.3212C>G p.A1071G missense 0.00000828●●●●●●
436. 29122547 c.2066G>T p.G689V missense 0.00000828●●●●●●
437. 29118857 c.1795T>C p.C599R missense 0.00000828●●●●●●
438. 29118888 c.1826G>T p.G609V missense 0.00000828●●●●●●
439. 29126465 c.3116C>T p.A1039V missense 0.00000828●●●●●●
440. 29126423 c.3074C>T p.P1025L missense 0.00000828●●●●●●
441. 29122669 c.2188A>G p.T730A missense 0.00000828●●●●●●
442. 29122623 c.2142G>T p.M714I missense 0.00000828●●●●●●
443. 29116264 c.1523A>T p.H508L missense 0.00000828●●●●●●
444. 29104721 c.884T>C p.V295A missense 0.00000828●●●●●●
445. 29102180 c.658A>G p.I220V missense 0.00000828●●●●●●
446. 29101146 c.463A>G p.N155D missense 0.00000828●●●●●●
447. 29111187 c.1252G>A p.E418K missense 0.00000828●●●●●●
448. 29111058 c.1123A>G p.I375V missense 0.00000828●●●●●●
449. 29111179 c.1244C>A p.A415D missense 0.00000828●●●●●●
450. 29126575 c.3226G>C p.V1076L missense 0.00000828●●●●●●
451. 29116248 c.1507G>A p.V503M missense 0.00000828●●●●●●
452. 29116236 c.1495C>A p.L499M missense 0.00000828●●●●●●
453. 29126485 c.3136G>A p.V1046M missense 0.00000828●●●●●●
454. 29118861 c.1799G>A p.R600K missense 0.00000828●●●●●●
455. 29111140 c.1205A>G p.D402G 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.