DSC2 variants in ExAC

DSC2 gene summary
DSC2 variants in DCM

The table below lists the DSC2 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. 28681931 c.4G>A p.E2K missense 0.00040169●●●●●●
2. 28681916 c.19T>C p.S7P missense 0.00009406●●●●●●
3. 28681903 c.32A>G p.N11S missense 0.01005025●●●●●●
4. 28681901 c.34G>A p.G12R missense 0.00035695●●●●●●
5. 28673617 c.70-11delT splice site 0.00044785●●●●●●
6. 28673613 c.70-7T>G splice site 0.00005061●●●●●●
7. 28673604 c.72C>G p.I24M missense 0.00000835●●●●●●
8. 28673594 c.82G>T p.A28S missense 0.00002487●●●●●●
9. 28673591 c.85A>T p.S29C missense 0.00000828●●●●●●
10. 28673554 c.122C>T p.S41F missense 0.00001648●●●●●●
11. 28673540 c.136G>A p.E46K missense 0.00012359●●●●●●
12. 28673534 c.142C>T p.L48F missense 0.00000824●●●●●●
13. 28673527 c.149G>A p.G50D missense 0.00002472●●●●●●
14. 28673523 c.153A>G splice site 0.00001648●●●●●●
15. 28673522 c.154G>A p.V52I missense 0.00000824●●●●●●
16. 28673520 c.154+2T>C essential splice site 0.00000824●●●●●●
17. 28673516 c.154+6G>A splice site 0.00004944●●●●●●
18. 28673513 c.154+9G>A splice site 0.00000824●●●●●●
19. 28672266 c.155-3C>T splice site 0.00000851●●●●●●
20. 28672246 c.172T>G p.F58V missense 0.00016703●●●●●●
21. 28672242 c.176C>T p.T59I missense 0.00001667●●●●●●
22. 28672236 c.182C>G p.A61G missense 0.00000832●●●●●●
23. 28672232 c.186T>A p.N62K missense 0.00000831●●●●●●
24. 28672218 c.200G>A p.S67N missense 0.00000829●●●●●●
25. 28672216 c.202G>C p.D68H missense 0.00000829●●●●●●
26. 28672210 c.208G>C p.D70H missense 0.00000828●●●●●●
27. 28672202 c.216A>C p.Q72H missense 0.00000827●●●●●●
28. 28672188 c.230G>T p.G77V missense 0.00000827●●●●●●
29. 28672179 c.239A>G p.Y80C missense 0.00000826●●●●●●
30. 28672161 c.257T>C p.L86P missense 0.00000826●●●●●●
31. 28672152 c.266C>T p.S89L missense 0.00006609●●●●●●
32. 28672147 c.271A>G p.K91E missense 0.00000826●●●●●●
33. 28672132 c.286A>G p.I96V missense 0.00002478●●●●●●
34. 28672123 c.295T>A p.S99T missense 0.00002478●●●●●●
35. 28672114 c.304G>A p.E102K missense 0.00073522●●●●●●
36. 28672100 c.318G>T p.K106N missense 0.00000826●●●●●●
37. 28672097 c.321G>T p.K107N missense 0.00000827●●●●●●
38. 28672091 c.327A>G p.I109M missense 0.00002480●●●●●●
39. 28672063 c.354+1G>A essential splice site 0.00000828●●●●●●
40. 28671102 c.363G>T p.K121N missense 0.00002525●●●●●●
41. 28671097 c.368G>T p.R123I missense 0.00000839●●●●●●
42. 28671097 c.368_370delGAC p.Arg123_His124delinsAsn inframe 0.00000838●●●●●●
43. 28671095 c.370C>T p.H124Y missense 0.00201271●●●●●●
44. 28671092 c.373A>G p.T125A missense 0.00001675●●●●●●
45. 28671071 c.394C>T p.R132C missense 0.00003330●●●●●●
46. 28671070 c.395G>A p.R132H missense 0.00002497●●●●●●
47. 28671068 c.397G>A p.A133T missense 0.00007489●●●●●●
48. 28671067 c.398C>T p.A133V missense 0.00000832●●●●●●
49. 28671049 c.416C>T p.P139L missense 0.00000829●●●●●●
50. 28671037 c.428C>T p.S143L missense 0.00000828●●●●●●
51. 28671028 c.437A>T p.E146V missense 0.00000828●●●●●●
52. 28671023 c.442T>A p.S148T missense 0.00000827●●●●●●
53. 28671014 c.451C>A p.P151T missense 0.00000827●●●●●●
54. 28670986 c.474+5C>T splice site 0.00002481●●●●●●
55. 28670985 c.474+6G>A splice site 0.00000827●●●●●●
56. 28669554 c.478C>A p.Q160K missense 0.00003532●●●●●●
57. 28669544 c.488C>T p.T163M missense 0.00002563●●●●●●
58. 28669530 c.502A>G p.T168A missense 0.00000834●●●●●●
59. 28669523 c.509A>G p.Y170C missense 0.00000832●●●●●●
60. 28669517 c.515C>T p.S172F missense 0.00000830●●●●●●
61. 28669515 c.517A>T p.I173L missense 0.00000830●●●●●●
62. 28669496 c.536A>G p.D179G missense 0.00000826●●●●●●
63. 28669485 c.547C>T p.R183W missense 0.00002475●●●●●●
64. 28669484 c.548G>A p.R183Q missense 0.00000825●●●●●●
65. 28669484 c.548G>T p.R183L missense 0.00000825●●●●●●
66. 28669470 c.562G>T p.V188L missense 0.00000825●●●●●●
67. 28669437 c.595C>T p.R199C missense 0.00002473●●●●●●
68. 28669436 c.596G>A p.R199H missense 0.00001648●●●●●●
69. 28669431 c.601G>A p.V201I missense 0.00000824●●●●●●
70. 28669424 c.608G>A p.R203H missense 0.00001648●●●●●●
71. 28669415 c.617A>G p.Y206C missense 0.00002472●●●●●●
72. 28669413 c.619G>A p.E207K missense 0.00006593●●●●●●
73. 28669413 c.619G>C p.E207Q missense 0.00000824●●●●●●
74. 28669394 c.630+8C>T splice site 0.00004122●●●●●●
75. 28667778 c.631-2A>G p.Ile211MetfsX11 frameshift 0.00000827●●●●●●
76. 28667776 c.631A>G p.I211V missense 0.00001654●●●●●●
77. 28667776 c.631A>T p.I211L missense 0.00000827●●●●●●
78. 28667773 c.634A>G p.I212V missense 0.00002481●●●●●●
79. 28667761 c.646A>G p.T216A missense 0.00000826●●●●●●
80. 28667760 c.647C>T p.T216I missense 0.00000826●●●●●●
81. 28667760 c.647C>G p.T216R missense 0.00000826●●●●●●
82. 28667754 c.653C>T p.P218L missense 0.00000826●●●●●●
83. 28667749 c.658G>A p.G220R missense 0.00000826●●●●●●
84. 28667744 c.663T>A p.Y221X nonsense 0.00000826●●●●●●
85. 28667743 c.664A>G p.T222A missense 0.00000826●●●●●●
86. 28667740 c.667C>T p.P223S missense 0.00000825●●●●●●
87. 28667733 c.674T>G p.L225R missense 0.00000825●●●●●●
88. 28667725 c.682C>G p.P228A missense 0.00001651●●●●●●
89. 28667714 c.693C>G p.I231M missense 0.00000826●●●●●●
90. 28667705 c.702G>C p.E234D missense 0.00000826●●●●●●
91. 28667695 c.712_714delGAT inframe 0.00001653●●●●●●
92. 28667692 c.715A>G p.N239D missense 0.00000826●●●●●●
93. 28667692 c.715_728dupAACTACCCAATTTT p.Phe243LeufsTer43 frameshift 0.00000827●●●●●●
94. 28667688 c.719A>G p.Y240C missense 0.00002480●●●●●●
95. 28667673 c.734A>C p.E245A missense 0.00003311●●●●●●
96. 28667653 c.754A>T p.I252F missense 0.00000829●●●●●●
97. 28667653 c.754A>G p.I252V missense 0.00000829●●●●●●
98. 28667624 c.775+8C>A splice site 0.00002492●●●●●●
99. 28666708 c.776-3T>C splice site 0.00001831●●●●●●
100. 28666704 c.777C>T splice site 0.00002659●●●●●●
101. 28666699 c.782C>T p.T261I missense 0.00000856●●●●●●
102. 28666679 c.802A>G p.T268A missense 0.00016547●●●●●●
103. 28666667 c.814G>A p.E272K missense 0.00000826●●●●●●
104. 28666657 c.824C>T p.T275M missense 0.00002475●●●●●●
105. 28666646 c.835C>T p.R279C missense 0.00007420●●●●●●
106. 28666645 c.836G>A p.R279H missense 0.00001649●●●●●●
107. 28666640 c.841A>G p.K281E missense 0.00000824●●●●●●
108. 28666637 c.844T>C p.Y282H missense 0.00000824●●●●●●
109. 28666627 c.854T>C p.I285T missense 0.00015659●●●●●●
110. 28666625 c.856G>A p.G286R missense 0.00000824●●●●●●
111. 28666624 c.857G>T p.G286V missense 0.00007416●●●●●●
112. 28666621 c.860A>G p.Q287R missense 0.00000824●●●●●●
113. 28666621 c.860A>C p.Q287P missense 0.00000824●●●●●●
114. 28666616 c.865C>T p.P289S missense 0.00001648●●●●●●
115. 28666612 c.869C>A p.P290Q missense 0.00000824●●●●●●
116. 28666609 c.872C>T p.S291L missense 0.00000824●●●●●●
117. 28666607 c.874C>T p.P292S missense 0.00001648●●●●●●
118. 28666601 c.880C>A p.L294I missense 0.00000824●●●●●●
119. 28666583 c.898A>G p.T300A missense 0.00001647●●●●●●
120. 28666580 c.901A>G p.T301A missense 0.00008237●●●●●●
121. 28666574 c.907G>A p.V303M missense 0.00119436●●●●●●
122. 28666566 c.915_917delCAC p.Thr307del inframe 0.00000824●●●●●●
123. 28666556 c.925delT p.Ser309LeufsTer3 frameshift 0.00000824●●●●●●
124. 28666550 c.931C>A p.L311I missense 0.00000824●●●●●●
125. 28666532 c.942+7T>A splice site 0.00000824●●●●●●
126. 28663020 c.949G>A p.D317N missense 0.00001948●●●●●●
127. 28662996 c.973G>A p.V325I missense 0.00001808●●●●●●
128. 28662987 c.982A>T p.M328L missense 0.00000888●●●●●●
129. 28662980 c.989G>T p.G330V missense 0.00000877●●●●●●
130. 28662951 c.1018A>G p.T340A missense 0.00003401●●●●●●
131. 28662950 c.1019C>A p.T340N missense 0.00001700●●●●●●
132. 28662946 c.1023_1024insT p.Ile342TyrfsTer3 frameshift 0.00000847●●●●●●
133. 28662945 c.1024A>G p.I342V missense 0.00000847●●●●●●
134. 28662935 c.1034T>C p.I345T missense 0.00000842●●●●●●
135. 28662921 c.1048G>T p.D350Y missense 0.00000840●●●●●●
136. 28662919 c.1050C>A p.D350E missense 0.00000839●●●●●●
137. 28662918 c.1051C>T p.H351Y missense 0.00000839●●●●●●
138. 28662899 c.1070G>A p.R357H missense 0.00016836●●●●●●
139. 28662896 c.1073C>T p.T358I missense 0.00144976●●●●●●
140. 28662396 c.1078-7A>G splice site 0.00000853●●●●●●
141. 28662387 c.1080T>C splice site 0.00000842●●●●●●
142. 28662386 c.1081G>A p.V361M missense 0.00002520●●●●●●
143. 28662376 c.1091T>G p.V364G missense 0.00000833●●●●●●
144. 28662372 c.1095A>T p.E365D missense 0.00000830●●●●●●
145. 28662364 c.1103C>T p.T368I missense 0.00000828●●●●●●
146. 28662352 c.1115A>C p.E372A missense 0.00000826●●●●●●
147. 28662346 c.1121delT p.Leu374TyrfsTer10 frameshift 0.00000826●●●●●●
148. 28662302 c.1165T>A p.W389R missense 0.00000825●●●●●●
149. 28662283 c.1184T>C p.I395T missense 0.00000825●●●●●●
150. 28662251 c.1216A>G p.I406V missense 0.00000825●●●●●●
151. 28662248 c.1219G>T p.V407L missense 0.00002477●●●●●●
152. 28662236 c.1231A>G p.K411E missense 0.00004955●●●●●●
153. 28662230 c.1237A>G p.N413D missense 0.00000826●●●●●●
154. 28662225 c.1242A>T p.E414D missense 0.00000826●●●●●●
155. 28662206 c.1261A>C p.K421Q missense 0.00000828●●●●●●
156. 28660323 c.1264-5C>T splice site 0.00090393●●●●●●
157. 28660322 c.1264-4G>A splice site 0.00002487●●●●●●
158. 28660312 c.1270A>G p.N424D missense 0.00000827●●●●●●
159. 28660292 c.1290G>C p.Q430H missense 0.00000825●●●●●●
160. 28660291 c.1291A>G p.M431V missense 0.00002475●●●●●●
161. 28660290 c.1292T>G p.M431R missense 0.00000825●●●●●●
162. 28660281 c.1301A>G p.Q434R missense 0.00000825●●●●●●
163. 28660278 c.1304T>C p.I435T missense 0.00000825●●●●●●
164. 28660275 c.1307G>T p.G436V missense 0.00000825●●●●●●
165. 28660273 c.1309G>A p.V437I missense 0.00000825●●●●●●
166. 28660267 c.1315A>G p.N439D missense 0.00002473●●●●●●
167. 28660258 c.1324C>T p.P442S missense 0.00000824●●●●●●
168. 28660251 c.1331C>G p.S444C missense 0.00000824●●●●●●
169. 28660240 c.1342A>G p.S448G missense 0.00002473●●●●●●
170. 28660232 c.1350A>C p.R450S missense 0.00001648●●●●●●
171. 28660228 c.1354G>T p.A452S missense 0.00000824●●●●●●
172. 28660207 c.1375A>G p.T459A missense 0.00001648●●●●●●
173. 28660187 c.1395G>T p.Q465H missense 0.00000824●●●●●●
174. 28660185 c.1397A>G p.D466G missense 0.00000824●●●●●●
175. 28660180 c.1402G>A p.G468S missense 0.00001648●●●●●●
176. 28660171 c.1411T>A p.C471S missense 0.00000824●●●●●●
177. 28660161 c.1421C>T p.P474L missense 0.00001648●●●●●●
178. 28660147 c.1435C>T p.R479C missense 0.00000824●●●●●●
179. 28660146 c.1436G>T p.R479L missense 0.00004945●●●●●●
180. 28660146 c.1436G>C p.R479P missense 0.00000824●●●●●●
181. 28660144 c.1438A>G p.M480V missense 0.00002472●●●●●●
182. 28660126 c.1456G>A p.V486M missense 0.00006594●●●●●●
183. 28660113 c.1469G>A p.S490N missense 0.00000824●●●●●●
184. 28660110 c.1472A>G p.N491S missense 0.00000824●●●●●●
185. 28660105 c.1477T>C p.Y493H missense 0.00000824●●●●●●
186. 28660076 c.1506T>A p.S502R missense 0.00000825●●●●●●
187. 28660072 c.1510A>G p.S504G missense 0.00000825●●●●●●
188. 28660070 c.1512T>G p.S504R missense 0.00000825●●●●●●
189. 28660054 c.1520+8C>G splice site 0.00011565●●●●●●
190. 28659962 c.1521-7C>T splice site 0.00012405●●●●●●
191. 28659960 c.1521-5A>G splice site 0.00000827●●●●●●
192. 28659939 c.1537G>T p.D513Y missense 0.00000825●●●●●●
193. 28659938 c.1538A>G p.D513G missense 0.00000825●●●●●●
194. 28659933 c.1543A>T p.T515S missense 0.00000824●●●●●●
195. 28659930 c.1546G>C p.G516R missense 0.00003298●●●●●●
196. 28659924 c.1552G>C p.V518L missense 0.00028023●●●●●●
197. 28659924 c.1552G>T p.V518F missense 0.00000824●●●●●●
198. 28659924 c.1552G>A p.V518I missense 0.00000824●●●●●●
199. 28659918 c.1558A>G p.I520V missense 0.00000824●●●●●●
200. 28659917 c.1559T>C p.I520T missense 0.00022250●●●●●●
201. 28659908 c.1568A>G p.N523S missense 0.00001648●●●●●●
202. 28659897 c.1579A>G p.I527V missense 0.00001648●●●●●●
203. 28659895 c.1581C>G p.I527M missense 0.00001648●●●●●●
204. 28659883 c.1593A>C p.R531S missense 0.00000824●●●●●●
205. 28659864 c.1612G>A p.E538K missense 0.00000824●●●●●●
206. 28659856 c.1620C>G p.I540M missense 0.00000824●●●●●●
207. 28659844 c.1632A>G p.I544M missense 0.00000824●●●●●●
208. 28659842 c.1634A>G p.Y545C missense 0.00004944●●●●●●
209. 28659839 c.1637A>G p.N546S missense 0.00001648●●●●●●
210. 28659821 c.1655C>G p.S552X nonsense 0.00000824●●●●●●
211. 28659818 c.1658A>G p.D553G missense 0.00000824●●●●●●
212. 28659810 c.1663+3A>T splice site 0.00000824●●●●●●
213. 28659809 c.1663+4A>G splice site 0.00008241●●●●●●
214. 28654881 c.1664-8T>G splice site 0.00001213●●●●●●
215. 28654874 c.1664-1G>C essential splice site 0.00001049●●●●●●
216. 28654873 c.1664G>C p.G555A missense 0.00001032●●●●●●
217. 28654861 c.1676G>A p.C559Y missense 0.00000897●●●●●●
218. 28654858 c.1679C>T p.T560M missense 0.00001768●●●●●●
219. 28654844 c.1693A>G p.I565V missense 0.00000851●●●●●●
220. 28654830 c.1707C>A p.D569E missense 0.00004195●●●●●●
221. 28654816 c.1721G>A p.S574N missense 0.00003330●●●●●●
222. 28654808 c.1729A>G p.I577V missense 0.00034062●●●●●●
223. 28654790 c.1747A>G p.I583V missense 0.00000829●●●●●●
224. 28654787 c.1750A>G p.I584V missense 0.00003314●●●●●●
225. 28654787 c.1750A>T p.I584F missense 0.00000828●●●●●●
226. 28654778 c.1759C>A p.P587T missense 0.00001656●●●●●●
227. 28654777 c.1760C>T p.P587L missense 0.00000828●●●●●●
228. 28654771 c.1766T>C p.M589T missense 0.00004964●●●●●●
229. 28654762 c.1775C>T p.A592V missense 0.00018188●●●●●●
230. 28654750 c.1787C>T p.A596V missense 0.00124824●●●●●●
231. 28654748 c.1789G>T p.V597F missense 0.00018182●●●●●●
232. 28654741 c.1796C>G p.P599R missense 0.00000826●●●●●●
233. 28654735 c.1802A>C p.E601A missense 0.00003305●●●●●●
234. 28654730 c.1807A>G p.I603V missense 0.00000826●●●●●●
235. 28654700 c.1837G>C p.E613Q missense 0.00000828●●●●●●
236. 28654699 c.1838A>G p.E613G missense 0.00000828●●●●●●
237. 28654691 c.1846A>G p.T616A missense 0.00001657●●●●●●
238. 28654690 c.1847C>T p.T616I missense 0.00000829●●●●●●
239. 28654667 c.1870A>G p.R624G missense 0.00000837●●●●●●
240. 28654658 c.1879G>A p.A627T missense 0.00001695●●●●●●
241. 28651804 c.1892C>T p.T631I missense 0.00000855●●●●●●
242. 28651795 c.1901G>A p.R634H missense 0.00043890●●●●●●
243. 28651789 c.1907C>G p.S636C missense 0.00000840●●●●●●
244. 28651786 c.1910A>G p.Y637C missense 0.00001676●●●●●●
245. 28651782 c.1914G>C p.Q638H missense 0.00041842●●●●●●
246. 28651778 c.1918G>A p.D640N missense 0.00000836●●●●●●
247. 28651772 c.1924C>G p.P642A missense 0.00000835●●●●●●
248. 28651750 c.1946C>T p.P649L missense 0.00000834●●●●●●
249. 28651748 c.1948A>G p.I650V missense 0.00000833●●●●●●
250. 28651745 c.1951A>G p.T651A missense 0.00000833●●●●●●
251. 28651744 c.1952C>T p.T651I missense 0.00000833●●●●●●
252. 28651717 c.1979G>A p.S660N missense 0.00000833●●●●●●
253. 28651715 c.1981G>A p.V661I missense 0.00019990●●●●●●
254. 28651702 c.1994A>G p.D665G missense 0.00000831●●●●●●
255. 28651700 c.1996G>A p.V666I missense 0.00000831●●●●●●
256. 28651679 c.2017A>G p.T673A missense 0.00000829●●●●●●
257. 28651660 c.2036A>G p.H679R missense 0.00000827●●●●●●
258. 28651658 c.2038C>T p.R680C missense 0.00000827●●●●●●
259. 28651658 c.2038C>A p.R680S missense 0.00000827●●●●●●
260. 28651657 c.2039G>T p.R680L missense 0.00000827●●●●●●
261. 28651657 c.2039G>A p.R680H missense 0.00000827●●●●●●
262. 28651639 c.2057G>T p.G686V missense 0.00000826●●●●●●
263. 28651637 c.2059G>A p.G687S missense 0.00000826●●●●●●
264. 28651628 c.2068G>T p.V690L missense 0.00002475●●●●●●
265. 28651624 c.2072A>C p.Q691P missense 0.00000825●●●●●●
266. 28651579 c.2117T>C p.L706S missense 0.00000824●●●●●●
267. 28651576 c.2120T>C p.L707P missense 0.00000825●●●●●●
268. 28651571 c.2125T>G p.C709G missense 0.00003298●●●●●●
269. 28651571 c.2125delT frameshift 0.00000825●●●●●●
270. 28651570 c.2125+1G>A essential splice site 0.00000825●●●●●●
271. 28651564 c.2125+7C>T splice site 0.00000825●●●●●●
272. 28650816 c.2126G>A p.C709Y missense 0.00003304●●●●●●
273. 28650814 c.2128A>T p.I710F missense 0.00000826●●●●●●
274. 28650804 c.2138C>T p.T713M missense 0.00006599●●●●●●
275. 28650796 c.2146T>G p.C716G missense 0.00000825●●●●●●
276. 28650795 c.2147G>T p.C716F missense 0.00000825●●●●●●
277. 28650792 c.2150G>A p.G717E missense 0.00000824●●●●●●
278. 28650790 c.2152G>T p.A718S missense 0.00000824●●●●●●
279. 28650780 c.2162C>T p.T721M missense 0.00003297●●●●●●
280. 28650751 c.2191G>A p.D731N missense 0.00003296●●●●●●
281. 28650748 c.2194T>G p.L732V missense 0.00120329●●●●●●
282. 28650742 c.2200C>T p.Q734X nonsense 0.00000824●●●●●●
283. 28650741 c.2201A>C p.Q734P missense 0.00000824●●●●●●
284. 28650736 c.2206A>G p.N736D missense 0.00001648●●●●●●
285. 28650727 c.2215G>A p.V739I missense 0.00001648●●●●●●
286. 28650726 c.2216T>C p.V739A missense 0.00001648●●●●●●
287. 28650711 c.2231C>T p.A744V missense 0.00000824●●●●●●
288. 28650705 c.2237G>A p.G746E missense 0.00000824●●●●●●
289. 28650697 c.2245A>C p.K749Q missense 0.00002473●●●●●●
290. 28650695 c.2247A>T p.K749N missense 0.00001649●●●●●●
291. 28650694 c.2248G>C p.V750L missense 0.00000825●●●●●●
292. 28649122 c.2251-5T>G splice site 0.00003344●●●●●●
293. 28649113 c.2255C>T p.S752F missense 0.00000833●●●●●●
294. 28649104 c.2264G>T p.G755V missense 0.00005812●●●●●●
295. 28649092 c.2276A>G p.Q759R missense 0.00000827●●●●●●
296. 28649081 c.2287G>A p.A763T missense 0.00001652●●●●●●
297. 28649074 c.2294C>T p.A765V missense 0.00000826●●●●●●
298. 28649070 c.2298G>C p.Q766H missense 0.00004126●●●●●●
299. 28649068 c.2300G>A p.G767E missense 0.00003301●●●●●●
300. 28649066 c.2302G>T p.V768F missense 0.00000825●●●●●●
301. 28649054 c.2314G>A p.V772M missense 0.00007421●●●●●●
302. 28649050 c.2318G>C p.G773A missense 0.00000824●●●●●●
303. 28649042 c.2326A>G p.I776V missense 0.11900915●●●●●●
304. 28649040 c.2328C>G p.I776M missense 0.00003296●●●●●●
305. 28649033 c.2335G>A p.G779R missense 0.00004944●●●●●●
306. 28649017 c.2351T>C p.I784T missense 0.00000824●●●●●●
307. 28649015 c.2353G>A p.E785K missense 0.00000824●●●●●●
308. 28649014 c.2354A>G p.E785G missense 0.00001648●●●●●●
309. 28649012 c.2356A>G p.M786V missense 0.00000824●●●●●●
310. 28649011 c.2357T>C p.M786T missense 0.00001648●●●●●●
311. 28649000 c.2368_2370delGGA p.Gly790del inframe 0.00137630●●●●●●
312. 28648987 c.2381C>T p.S794L missense 0.00004120●●●●●●
313. 28648976 c.2392C>T p.R798W missense 0.00000824●●●●●●
314. 28648975 c.2393G>A p.R798Q missense 0.04949149●●●●●●
315. 28648975 c.2393G>T p.R798L missense 0.00003297●●●●●●
316. 28648970 c.2398G>T p.A800S missense 0.00008241●●●●●●
317. 28648970 c.2398dupG p.Ala800GlyfsTer37 frameshift 0.00000824●●●●●●
318. 28648960 c.2408A>G p.H803R missense 0.00000824●●●●●●
319. 28648949 c.2419G>C p.D807H missense 0.00000824●●●●●●
320. 28648939 c.2429G>C p.R810T missense 0.00000824●●●●●●
321. 28648930 c.2438A>C p.H813P missense 0.00000824●●●●●●
322. 28648927 c.2441C>T p.T814M missense 0.00002472●●●●●●
323. 28648922 c.2446G>A p.V816M missense 0.00001648●●●●●●
324. 28648917 c.2451C>G p.D817E missense 0.00000824●●●●●●
325. 28648912 c.2456G>A p.C819Y missense 0.00000824●●●●●●
326. 28648906 c.2462A>T p.Y821F missense 0.00000824●●●●●●
327. 28648898 c.2470T>G p.S824A missense 0.00000824●●●●●●
328. 28648897 c.2471C>T p.S824L missense 0.00008239●●●●●●
329. 28648895 c.2473G>T p.Glu825Ter nonsense 0.00000824●●●●●●
330. 28648893 c.2475G>C p.E825D missense 0.00000824●●●●●●
331. 28648880 c.2488A>C p.T830P missense 0.00000824●●●●●●
332. 28648874 c.2494C>A p.P832T missense 0.00000824●●●●●●
333. 28648871 c.2497C>T p.R833C missense 0.00041198●●●●●●
334. 28648871 c.2497C>G p.R833G missense 0.00000824●●●●●●
335. 28648870 c.2498G>A p.R833H missense 0.00016480●●●●●●
336. 28648150 c.2537A>G p.N846S missense 0.00000824●●●●●●
337. 28648150 c.2537A>C p.N846T missense 0.00002473●●●●●●
338. 28648141 c.2546A>C p.H849P missense 0.00000824●●●●●●
339. 28648118 c.2569T>C p.Y857H missense 0.00000824●●●●●●
340. 28648111 c.2576A>G p.Y859C missense 0.00000824●●●●●●
341. 28648100 c.2587G>A p.G863R missense 0.00027197●●●●●●
342. 28648099 c.2588G>A p.G863E missense 0.00000824●●●●●●
343. 28648097 c.2590T>C p.S864P missense 0.00001648●●●●●●
344. 28648096 c.2591C>T p.S864L missense 0.00003297●●●●●●
345. 28648090 c.2597C>G p.A866G missense 0.00000824●●●●●●
346. 28648084 c.2603C>T p.S868F missense 0.00005769●●●●●●
347. 28648070 c.2617A>C p.S873R missense 0.00002473●●●●●●
348. 28648064 c.2623C>T p.R875X nonsense 0.00000825●●●●●●
349. 28648063 c.2624G>A p.R875Q missense 0.00003298●●●●●●
350. 28648053 c.2634_2636delAGA p.Glu878del inframe 0.00002473●●●●●●
351. 28648051 c.2636A>G p.D879G missense 0.00031333●●●●●●
352. 28648023 c.2664G>T p.E888D missense 0.00002474●●●●●●
353. 28648001 c.2686_2687dupGA p.Ala897LysfsX4 frameshift 0.00833361●●●●●●
354. 28647992 c.2695A>T p.M899L missense 0.00001651●●●●●●
355. 28647988 c.2699A>G p.K900R missense 0.00000826●●●●●●
356. 0 c.1521-23_1521-8delTTTTAATTCATCATTA splice site 0.00001654●●●●●●
357. c.631-13dupA inframe 0.00026539●●●●●●

* 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.