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

* 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.