DSC2 missense variants in ExAC

DSC2 gene summary
DSC2 variants in DCM

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