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. 28659842 c.1634A>G p.Y545C missense 0.00004944●●●●●●
56. 28673516 c.154+6G>A splice site 0.00004944●●●●●●
57. 28649033 c.2335G>A p.G779R missense 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. 28654816 c.1721G>A p.S574N missense 0.00003330●●●●●●
66. 28671071 c.394C>T p.R132C 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. 28651571 c.2125T>G p.C709G missense 0.00003298●●●●●●
73. 28648063 c.2624G>A p.R875Q missense 0.00003298●●●●●●
74. 28659930 c.1546G>C p.G516R missense 0.00003298●●●●●●
75. 28648975 c.2393G>T p.R798L missense 0.00003297●●●●●●
76. 28648096 c.2591C>T p.S864L missense 0.00003297●●●●●●
77. 28650780 c.2162C>T p.T721M missense 0.00003297●●●●●●
78. 28650751 c.2191G>A p.D731N missense 0.00003296●●●●●●
79. 28649040 c.2328C>G p.I776M 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. 28660322 c.1264-4G>A splice site 0.00002487●●●●●●
87. 28673594 c.82G>T p.A28S missense 0.00002487●●●●●●
88. 28670986 c.474+5C>T splice site 0.00002481●●●●●●
89. 28667773 c.634A>G p.I212V missense 0.00002481●●●●●●
90. 28667688 c.719A>G p.Y240C missense 0.00002480●●●●●●
91. 28672091 c.327A>G p.I109M missense 0.00002480●●●●●●
92. 28672132 c.286A>G p.I96V missense 0.00002478●●●●●●
93. 28672123 c.295T>A p.S99T missense 0.00002478●●●●●●
94. 28662248 c.1219G>T p.V407L missense 0.00002477●●●●●●
95. 28669485 c.547C>T p.R183W missense 0.00002475●●●●●●
96. 28660291 c.1291A>G p.M431V missense 0.00002475●●●●●●
97. 28651628 c.2068G>T p.V690L missense 0.00002475●●●●●●
98. 28666657 c.824C>T p.T275M missense 0.00002475●●●●●●
99. 28648023 c.2664G>T p.E888D missense 0.00002474●●●●●●
100. 28648053 c.2634_2636delAGA p.Glu878del inframe 0.00002473●●●●●●
101. 28660240 c.1342A>G p.S448G missense 0.00002473●●●●●●
102. 28650697 c.2245A>C p.K749Q missense 0.00002473●●●●●●
103. 28669437 c.595C>T p.R199C missense 0.00002473●●●●●●
104. 28660267 c.1315A>G p.N439D missense 0.00002473●●●●●●
105. 28648070 c.2617A>C p.S873R missense 0.00002473●●●●●●
106. 28648150 c.2537A>C p.N846T missense 0.00002473●●●●●●
107. 28669415 c.617A>G p.Y206C missense 0.00002472●●●●●●
108. 28673527 c.149G>A p.G50D missense 0.00002472●●●●●●
109. 28648927 c.2441C>T p.T814M missense 0.00002472●●●●●●
110. 28660144 c.1438A>G p.M480V 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. 0 c.1521-23_1521-8delTTTTAATTCATCATTA splice site 0.00001654●●●●●●
123. 28667776 c.631A>G p.I211V missense 0.00001654●●●●●●
124. 28667695 c.712_714delGAT inframe 0.00001653●●●●●●
125. 28649081 c.2287G>A p.A763T missense 0.00001652●●●●●●
126. 28667725 c.682C>G p.P228A missense 0.00001651●●●●●●
127. 28647992 c.2695A>T p.M899L missense 0.00001651●●●●●●
128. 28666645 c.836G>A p.R279H missense 0.00001649●●●●●●
129. 28650695 c.2247A>T p.K749N missense 0.00001649●●●●●●
130. 28648922 c.2446G>A p.V816M missense 0.00001648●●●●●●
131. 28649014 c.2354A>G p.E785G missense 0.00001648●●●●●●
132. 28666616 c.865C>T p.P289S missense 0.00001648●●●●●●
133. 28650726 c.2216T>C p.V739A missense 0.00001648●●●●●●
134. 28648097 c.2590T>C p.S864P missense 0.00001648●●●●●●
135. 28659908 c.1568A>G p.N523S missense 0.00001648●●●●●●
136. 28660180 c.1402G>A p.G468S missense 0.00001648●●●●●●
137. 28649011 c.2357T>C p.M786T missense 0.00001648●●●●●●
138. 28650736 c.2206A>G p.N736D missense 0.00001648●●●●●●
139. 28666607 c.874C>T p.P292S missense 0.00001648●●●●●●
140. 28669436 c.596G>A p.R199H missense 0.00001648●●●●●●
141. 28650727 c.2215G>A p.V739I missense 0.00001648●●●●●●
142. 28660161 c.1421C>T p.P474L missense 0.00001648●●●●●●
143. 28660207 c.1375A>G p.T459A missense 0.00001648●●●●●●
144. 28659895 c.1581C>G p.I527M missense 0.00001648●●●●●●
145. 28659839 c.1637A>G p.N546S missense 0.00001648●●●●●●
146. 28673523 c.153A>G splice site 0.00001648●●●●●●
147. 28660232 c.1350A>C p.R450S missense 0.00001648●●●●●●
148. 28673554 c.122C>T p.S41F missense 0.00001648●●●●●●
149. 28659897 c.1579A>G p.I527V missense 0.00001648●●●●●●
150. 28669424 c.608G>A p.R203H missense 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. 28651789 c.1907C>G p.S636C missense 0.00000840●●●●●●
168. 28662921 c.1048G>T p.D350Y missense 0.00000840●●●●●●
169. 28662918 c.1051C>T p.H351Y missense 0.00000839●●●●●●
170. 28671097 c.368G>T p.R123I 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. 28673604 c.72C>G p.I24M missense 0.00000835●●●●●●
176. 28651772 c.1924C>G p.P642A missense 0.00000835●●●●●●
177. 28669530 c.502A>G p.T168A missense 0.00000834●●●●●●
178. 28651750 c.1946C>T p.P649L missense 0.00000834●●●●●●
179. 28651744 c.1952C>T p.T651I missense 0.00000833●●●●●●
180. 28649113 c.2255C>T p.S752F missense 0.00000833●●●●●●
181. 28651745 c.1951A>G p.T651A missense 0.00000833●●●●●●
182. 28651748 c.1948A>G p.I650V missense 0.00000833●●●●●●
183. 28651717 c.1979G>A p.S660N missense 0.00000833●●●●●●
184. 28662376 c.1091T>G p.V364G missense 0.00000833●●●●●●
185. 28669523 c.509A>G p.Y170C missense 0.00000832●●●●●●
186. 28672236 c.182C>G p.A61G missense 0.00000832●●●●●●
187. 28671067 c.398C>T p.A133V missense 0.00000832●●●●●●
188. 28651702 c.1994A>G p.D665G missense 0.00000831●●●●●●
189. 28672232 c.186T>A p.N62K missense 0.00000831●●●●●●
190. 28651700 c.1996G>A p.V666I missense 0.00000831●●●●●●
191. 28669515 c.517A>T p.I173L missense 0.00000830●●●●●●
192. 28669517 c.515C>T p.S172F missense 0.00000830●●●●●●
193. 28662372 c.1095A>T p.E365D missense 0.00000830●●●●●●
194. 28672216 c.202G>C p.D68H missense 0.00000829●●●●●●
195. 28671049 c.416C>T p.P139L missense 0.00000829●●●●●●
196. 28654690 c.1847C>T p.T616I missense 0.00000829●●●●●●
197. 28654790 c.1747A>G p.I583V missense 0.00000829●●●●●●
198. 28651679 c.2017A>G p.T673A missense 0.00000829●●●●●●
199. 28667653 c.754A>T p.I252F missense 0.00000829●●●●●●
200. 28672218 c.200G>A p.S67N missense 0.00000829●●●●●●
201. 28667653 c.754A>G p.I252V missense 0.00000829●●●●●●
202. 28654699 c.1838A>G p.E613G missense 0.00000828●●●●●●
203. 28671037 c.428C>T p.S143L missense 0.00000828●●●●●●
204. 28673591 c.85A>T p.S29C missense 0.00000828●●●●●●
205. 28654700 c.1837G>C p.E613Q missense 0.00000828●●●●●●
206. 28672063 c.354+1G>A essential splice site 0.00000828●●●●●●
207. 28671028 c.437A>T p.E146V missense 0.00000828●●●●●●
208. 28662206 c.1261A>C p.K421Q missense 0.00000828●●●●●●
209. 28654787 c.1750A>T p.I584F missense 0.00000828●●●●●●
210. 28662364 c.1103C>T p.T368I missense 0.00000828●●●●●●
211. 28672210 c.208G>C p.D70H missense 0.00000828●●●●●●
212. 28654777 c.1760C>T p.P587L missense 0.00000828●●●●●●
213. 28667778 c.631-2A>G p.Ile211MetfsX11 frameshift 0.00000827●●●●●●
214. 28651658 c.2038C>A p.R680S missense 0.00000827●●●●●●
215. 28660312 c.1270A>G p.N424D missense 0.00000827●●●●●●
216. 28659960 c.1521-5A>G splice site 0.00000827●●●●●●
217. 28651660 c.2036A>G p.H679R missense 0.00000827●●●●●●
218. 28672097 c.321G>T p.K107N missense 0.00000827●●●●●●
219. 28672188 c.230G>T p.G77V missense 0.00000827●●●●●●
220. 28671014 c.451C>A p.P151T missense 0.00000827●●●●●●
221. 28651657 c.2039G>A p.R680H missense 0.00000827●●●●●●
222. 28670985 c.474+6G>A splice site 0.00000827●●●●●●
223. 28672202 c.216A>C p.Q72H missense 0.00000827●●●●●●
224. 28667692 c.715_728dupAACTACCCAATTTT p.Phe243LeufsTer43 frameshift 0.00000827●●●●●●
225. 28671023 c.442T>A p.S148T missense 0.00000827●●●●●●
226. 28651657 c.2039G>T p.R680L missense 0.00000827●●●●●●
227. 28667776 c.631A>T p.I211L missense 0.00000827●●●●●●
228. 28651658 c.2038C>T p.R680C missense 0.00000827●●●●●●
229. 28649092 c.2276A>G p.Q759R missense 0.00000827●●●●●●
230. 28667743 c.664A>G p.T222A missense 0.00000826●●●●●●
231. 28666667 c.814G>A p.E272K missense 0.00000826●●●●●●
232. 28654741 c.1796C>G p.P599R missense 0.00000826●●●●●●
233. 28662230 c.1237A>G p.N413D missense 0.00000826●●●●●●
234. 28667714 c.693C>G p.I231M missense 0.00000826●●●●●●
235. 28667749 c.658G>A p.G220R missense 0.00000826●●●●●●
236. 28672161 c.257T>C p.L86P missense 0.00000826●●●●●●
237. 28672100 c.318G>T p.K106N missense 0.00000826●●●●●●
238. 28667761 c.646A>G p.T216A missense 0.00000826●●●●●●
239. 28667754 c.653C>T p.P218L missense 0.00000826●●●●●●
240. 28647988 c.2699A>G p.K900R missense 0.00000826●●●●●●
241. 28654730 c.1807A>G p.I603V missense 0.00000826●●●●●●
242. 28672179 c.239A>G p.Y80C missense 0.00000826●●●●●●
243. 28667760 c.647C>T p.T216I missense 0.00000826●●●●●●
244. 28662346 c.1121delT p.Leu374TyrfsTer10 frameshift 0.00000826●●●●●●
245. 28667692 c.715A>G p.N239D missense 0.00000826●●●●●●
246. 28651637 c.2059G>A p.G687S missense 0.00000826●●●●●●
247. 28649074 c.2294C>T p.A765V missense 0.00000826●●●●●●
248. 28662352 c.1115A>C p.E372A missense 0.00000826●●●●●●
249. 28650814 c.2128A>T p.I710F missense 0.00000826●●●●●●
250. 28667744 c.663T>A p.Y221X nonsense 0.00000826●●●●●●
251. 28669496 c.536A>G p.D179G missense 0.00000826●●●●●●
252. 28662225 c.1242A>T p.E414D missense 0.00000826●●●●●●
253. 28667760 c.647C>G p.T216R missense 0.00000826●●●●●●
254. 28651639 c.2057G>T p.G686V missense 0.00000826●●●●●●
255. 28667705 c.702G>C p.E234D missense 0.00000826●●●●●●
256. 28672147 c.271A>G p.K91E missense 0.00000826●●●●●●
257. 28660290 c.1292T>G p.M431R missense 0.00000825●●●●●●
258. 28651564 c.2125+7C>T splice site 0.00000825●●●●●●
259. 28659938 c.1538A>G p.D513G missense 0.00000825●●●●●●
260. 28651624 c.2072A>C p.Q691P missense 0.00000825●●●●●●
261. 28651570 c.2125+1G>A essential splice site 0.00000825●●●●●●
262. 28669484 c.548G>A p.R183Q missense 0.00000825●●●●●●
263. 28659939 c.1537G>T p.D513Y missense 0.00000825●●●●●●
264. 28662251 c.1216A>G p.I406V missense 0.00000825●●●●●●
265. 28649066 c.2302G>T p.V768F missense 0.00000825●●●●●●
266. 28660275 c.1307G>T p.G436V missense 0.00000825●●●●●●
267. 28650795 c.2147G>T p.C716F missense 0.00000825●●●●●●
268. 28669470 c.562G>T p.V188L missense 0.00000825●●●●●●
269. 28660070 c.1512T>G p.S504R missense 0.00000825●●●●●●
270. 28651576 c.2120T>C p.L707P missense 0.00000825●●●●●●
271. 28648064 c.2623C>T p.R875X nonsense 0.00000825●●●●●●
272. 28662283 c.1184T>C p.I395T missense 0.00000825●●●●●●
273. 28660278 c.1304T>C p.I435T missense 0.00000825●●●●●●
274. 28650796 c.2146T>G p.C716G missense 0.00000825●●●●●●
275. 28662302 c.1165T>A p.W389R missense 0.00000825●●●●●●
276. 28651571 c.2125delT frameshift 0.00000825●●●●●●
277. 28660072 c.1510A>G p.S504G missense 0.00000825●●●●●●
278. 28650694 c.2248G>C p.V750L missense 0.00000825●●●●●●
279. 28669484 c.548G>T p.R183L missense 0.00000825●●●●●●
280. 28660281 c.1301A>G p.Q434R missense 0.00000825●●●●●●
281. 28667740 c.667C>T p.P223S missense 0.00000825●●●●●●
282. 28667733 c.674T>G p.L225R missense 0.00000825●●●●●●
283. 28660273 c.1309G>A p.V437I missense 0.00000825●●●●●●
284. 28660076 c.1506T>A p.S502R missense 0.00000825●●●●●●
285. 28660292 c.1290G>C p.Q430H missense 0.00000825●●●●●●
286. 28669431 c.601G>A p.V201I missense 0.00000824●●●●●●
287. 28660185 c.1397A>G p.D466G missense 0.00000824●●●●●●
288. 28660258 c.1324C>T p.P442S missense 0.00000824●●●●●●
289. 28648871 c.2497C>G p.R833G missense 0.00000824●●●●●●
290. 28659924 c.1552G>A p.V518I missense 0.00000824●●●●●●
291. 28648141 c.2546A>C p.H849P missense 0.00000824●●●●●●
292. 28659864 c.1612G>A p.E538K missense 0.00000824●●●●●●
293. 28666640 c.841A>G p.K281E missense 0.00000824●●●●●●
294. 28648930 c.2438A>C p.H813P missense 0.00000824●●●●●●
295. 28660110 c.1472A>G p.N491S missense 0.00000824●●●●●●
296. 28648118 c.2569T>C p.Y857H missense 0.00000824●●●●●●
297. 28666556 c.925delT p.Ser309LeufsTer3 frameshift 0.00000824●●●●●●
298. 28660146 c.1436G>C p.R479P missense 0.00000824●●●●●●
299. 28659810 c.1663+3A>T splice site 0.00000824●●●●●●
300. 28666625 c.856G>A p.G286R missense 0.00000824●●●●●●
301. 28666612 c.869C>A p.P290Q missense 0.00000824●●●●●●
302. 28659818 c.1658A>G p.D553G missense 0.00000824●●●●●●
303. 28660228 c.1354G>T p.A452S missense 0.00000824●●●●●●
304. 28649015 c.2353G>A p.E785K missense 0.00000824●●●●●●
305. 28648880 c.2488A>C p.T830P missense 0.00000824●●●●●●
306. 28660187 c.1395G>T p.Q465H missense 0.00000824●●●●●●
307. 28648912 c.2456G>A p.C819Y missense 0.00000824●●●●●●
308. 28648960 c.2408A>G p.H803R missense 0.00000824●●●●●●
309. 28648976 c.2392C>T p.R798W missense 0.00000824●●●●●●
310. 28648970 c.2398dupG p.Ala800GlyfsTer37 frameshift 0.00000824●●●●●●
311. 28659883 c.1593A>C p.R531S missense 0.00000824●●●●●●
312. 28659844 c.1632A>G p.I544M missense 0.00000824●●●●●●
313. 28666550 c.931C>A p.L311I missense 0.00000824●●●●●●
314. 28648874 c.2494C>A p.P832T missense 0.00000824●●●●●●
315. 28666532 c.942+7T>A splice site 0.00000824●●●●●●
316. 28660251 c.1331C>G p.S444C missense 0.00000824●●●●●●
317. 28648939 c.2429G>C p.R810T missense 0.00000824●●●●●●
318. 28660113 c.1469G>A p.S490N missense 0.00000824●●●●●●
319. 28648150 c.2537A>G p.N846S missense 0.00000824●●●●●●
320. 28666566 c.915_917delCAC p.Thr307del inframe 0.00000824●●●●●●
321. 28673513 c.154+9G>A splice site 0.00000824●●●●●●
322. 28666637 c.844T>C p.Y282H missense 0.00000824●●●●●●
323. 28666621 c.860A>G p.Q287R missense 0.00000824●●●●●●
324. 28659821 c.1655C>G p.S552X nonsense 0.00000824●●●●●●
325. 28650705 c.2237G>A p.G746E missense 0.00000824●●●●●●
326. 28650792 c.2150G>A p.G717E missense 0.00000824●●●●●●
327. 28649017 c.2351T>C p.I784T missense 0.00000824●●●●●●
328. 28648895 c.2473G>T p.Glu825Ter nonsense 0.00000824●●●●●●
329. 28649012 c.2356A>G p.M786V missense 0.00000824●●●●●●
330. 28648893 c.2475G>C p.E825D missense 0.00000824●●●●●●
331. 28648917 c.2451C>G p.D817E missense 0.00000824●●●●●●
332. 28648099 c.2588G>A p.G863E missense 0.00000824●●●●●●
333. 28651579 c.2117T>C p.L706S missense 0.00000824●●●●●●
334. 28666601 c.880C>A p.L294I missense 0.00000824●●●●●●
335. 28650741 c.2201A>C p.Q734P missense 0.00000824●●●●●●
336. 28673534 c.142C>T p.L48F missense 0.00000824●●●●●●
337. 28659918 c.1558A>G p.I520V missense 0.00000824●●●●●●
338. 28669413 c.619G>C p.E207Q missense 0.00000824●●●●●●
339. 28648949 c.2419G>C p.D807H missense 0.00000824●●●●●●
340. 28660171 c.1411T>A p.C471S missense 0.00000824●●●●●●
341. 28673520 c.154+2T>C essential splice site 0.00000824●●●●●●
342. 28659924 c.1552G>T p.V518F missense 0.00000824●●●●●●
343. 28659933 c.1543A>T p.T515S missense 0.00000824●●●●●●
344. 28659856 c.1620C>G p.I540M missense 0.00000824●●●●●●
345. 28650711 c.2231C>T p.A744V missense 0.00000824●●●●●●
346. 28649050 c.2318G>C p.G773A missense 0.00000824●●●●●●
347. 28648906 c.2462A>T p.Y821F missense 0.00000824●●●●●●
348. 28648898 c.2470T>G p.S824A missense 0.00000824●●●●●●
349. 28648090 c.2597C>G p.A866G missense 0.00000824●●●●●●
350. 28648111 c.2576A>G p.Y859C missense 0.00000824●●●●●●
351. 28666621 c.860A>C p.Q287P missense 0.00000824●●●●●●
352. 28673522 c.154G>A p.V52I missense 0.00000824●●●●●●
353. 28666609 c.872C>T p.S291L missense 0.00000824●●●●●●
354. 28650790 c.2152G>T p.A718S missense 0.00000824●●●●●●
355. 28650742 c.2200C>T p.Q734X nonsense 0.00000824●●●●●●
356. 28660105 c.1477T>C p.Y493H missense 0.00000824●●●●●●
357. 28660147 c.1435C>T p.R479C missense 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.