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. 28654816 c.1721G>A p.S574N missense 0.00003330●●●●●●
54. 28671071 c.394C>T p.R132C 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. 28648063 c.2624G>A p.R875Q missense 0.00003298●●●●●●
61. 28659930 c.1546G>C p.G516R missense 0.00003298●●●●●●
62. 28651571 c.2125T>G p.C709G 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. 28650751 c.2191G>A p.D731N missense 0.00003296●●●●●●
67. 28649040 c.2328C>G p.I776M 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. 28672091 c.327A>G p.I109M missense 0.00002480●●●●●●
75. 28667688 c.719A>G p.Y240C missense 0.00002480●●●●●●
76. 28672132 c.286A>G p.I96V missense 0.00002478●●●●●●
77. 28672123 c.295T>A p.S99T missense 0.00002478●●●●●●
78. 28662248 c.1219G>T p.V407L missense 0.00002477●●●●●●
79. 28660291 c.1291A>G p.M431V missense 0.00002475●●●●●●
80. 28666657 c.824C>T p.T275M missense 0.00002475●●●●●●
81. 28669485 c.547C>T p.R183W missense 0.00002475●●●●●●
82. 28651628 c.2068G>T p.V690L missense 0.00002475●●●●●●
83. 28648023 c.2664G>T p.E888D missense 0.00002474●●●●●●
84. 28650697 c.2245A>C p.K749Q missense 0.00002473●●●●●●
85. 28660267 c.1315A>G p.N439D missense 0.00002473●●●●●●
86. 28660240 c.1342A>G p.S448G missense 0.00002473●●●●●●
87. 28648070 c.2617A>C p.S873R missense 0.00002473●●●●●●
88. 28648150 c.2537A>C p.N846T missense 0.00002473●●●●●●
89. 28669437 c.595C>T p.R199C missense 0.00002473●●●●●●
90. 28660144 c.1438A>G p.M480V missense 0.00002472●●●●●●
91. 28669415 c.617A>G p.Y206C missense 0.00002472●●●●●●
92. 28673527 c.149G>A p.G50D 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. 28647992 c.2695A>T p.M899L missense 0.00001651●●●●●●
107. 28667725 c.682C>G p.P228A missense 0.00001651●●●●●●
108. 28666645 c.836G>A p.R279H missense 0.00001649●●●●●●
109. 28650695 c.2247A>T p.K749N missense 0.00001649●●●●●●
110. 28659895 c.1581C>G p.I527M missense 0.00001648●●●●●●
111. 28666616 c.865C>T p.P289S missense 0.00001648●●●●●●
112. 28660207 c.1375A>G p.T459A missense 0.00001648●●●●●●
113. 28660180 c.1402G>A p.G468S missense 0.00001648●●●●●●
114. 28650726 c.2216T>C p.V739A missense 0.00001648●●●●●●
115. 28648922 c.2446G>A p.V816M missense 0.00001648●●●●●●
116. 28648097 c.2590T>C p.S864P missense 0.00001648●●●●●●
117. 28673554 c.122C>T p.S41F missense 0.00001648●●●●●●
118. 28659839 c.1637A>G p.N546S missense 0.00001648●●●●●●
119. 28666607 c.874C>T p.P292S missense 0.00001648●●●●●●
120. 28649011 c.2357T>C p.M786T missense 0.00001648●●●●●●
121. 28660232 c.1350A>C p.R450S missense 0.00001648●●●●●●
122. 28659897 c.1579A>G p.I527V missense 0.00001648●●●●●●
123. 28650727 c.2215G>A p.V739I missense 0.00001648●●●●●●
124. 28669436 c.596G>A p.R199H missense 0.00001648●●●●●●
125. 28659908 c.1568A>G p.N523S missense 0.00001648●●●●●●
126. 28660161 c.1421C>T p.P474L missense 0.00001648●●●●●●
127. 28650736 c.2206A>G p.N736D missense 0.00001648●●●●●●
128. 28649014 c.2354A>G p.E785G missense 0.00001648●●●●●●
129. 28669424 c.608G>A p.R203H 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. 28662919 c.1050C>A p.D350E missense 0.00000839●●●●●●
143. 28671097 c.368G>T p.R123I missense 0.00000839●●●●●●
144. 28662918 c.1051C>T p.H351Y 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. 28669530 c.502A>G p.T168A missense 0.00000834●●●●●●
150. 28651750 c.1946C>T p.P649L missense 0.00000834●●●●●●
151. 28662376 c.1091T>G p.V364G missense 0.00000833●●●●●●
152. 28649113 c.2255C>T p.S752F missense 0.00000833●●●●●●
153. 28651748 c.1948A>G p.I650V missense 0.00000833●●●●●●
154. 28651717 c.1979G>A p.S660N missense 0.00000833●●●●●●
155. 28651744 c.1952C>T p.T651I missense 0.00000833●●●●●●
156. 28651745 c.1951A>G p.T651A 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. 28662372 c.1095A>T p.E365D missense 0.00000830●●●●●●
164. 28669515 c.517A>T p.I173L missense 0.00000830●●●●●●
165. 28669517 c.515C>T p.S172F missense 0.00000830●●●●●●
166. 28654690 c.1847C>T p.T616I missense 0.00000829●●●●●●
167. 28667653 c.754A>T p.I252F missense 0.00000829●●●●●●
168. 28654790 c.1747A>G p.I583V missense 0.00000829●●●●●●
169. 28651679 c.2017A>G p.T673A missense 0.00000829●●●●●●
170. 28667653 c.754A>G p.I252V missense 0.00000829●●●●●●
171. 28672216 c.202G>C p.D68H missense 0.00000829●●●●●●
172. 28672218 c.200G>A p.S67N missense 0.00000829●●●●●●
173. 28671049 c.416C>T p.P139L missense 0.00000829●●●●●●
174. 28662206 c.1261A>C p.K421Q missense 0.00000828●●●●●●
175. 28654700 c.1837G>C p.E613Q missense 0.00000828●●●●●●
176. 28672210 c.208G>C p.D70H missense 0.00000828●●●●●●
177. 28662364 c.1103C>T p.T368I missense 0.00000828●●●●●●
178. 28654787 c.1750A>T p.I584F missense 0.00000828●●●●●●
179. 28673591 c.85A>T p.S29C missense 0.00000828●●●●●●
180. 28671037 c.428C>T p.S143L missense 0.00000828●●●●●●
181. 28654777 c.1760C>T p.P587L missense 0.00000828●●●●●●
182. 28654699 c.1838A>G p.E613G missense 0.00000828●●●●●●
183. 28671028 c.437A>T p.E146V missense 0.00000828●●●●●●
184. 28649092 c.2276A>G p.Q759R missense 0.00000827●●●●●●
185. 28671023 c.442T>A p.S148T missense 0.00000827●●●●●●
186. 28667776 c.631A>T p.I211L missense 0.00000827●●●●●●
187. 28651657 c.2039G>A p.R680H missense 0.00000827●●●●●●
188. 28672202 c.216A>C p.Q72H missense 0.00000827●●●●●●
189. 28651657 c.2039G>T p.R680L missense 0.00000827●●●●●●
190. 28651660 c.2036A>G p.H679R missense 0.00000827●●●●●●
191. 28651658 c.2038C>T p.R680C missense 0.00000827●●●●●●
192. 28660312 c.1270A>G p.N424D missense 0.00000827●●●●●●
193. 28672188 c.230G>T p.G77V missense 0.00000827●●●●●●
194. 28671014 c.451C>A p.P151T missense 0.00000827●●●●●●
195. 28651658 c.2038C>A p.R680S missense 0.00000827●●●●●●
196. 28672097 c.321G>T p.K107N missense 0.00000827●●●●●●
197. 28667760 c.647C>T p.T216I missense 0.00000826●●●●●●
198. 28662352 c.1115A>C p.E372A missense 0.00000826●●●●●●
199. 28667749 c.658G>A p.G220R missense 0.00000826●●●●●●
200. 28667705 c.702G>C p.E234D missense 0.00000826●●●●●●
201. 28672147 c.271A>G p.K91E missense 0.00000826●●●●●●
202. 28662225 c.1242A>T p.E414D missense 0.00000826●●●●●●
203. 28654730 c.1807A>G p.I603V missense 0.00000826●●●●●●
204. 28651637 c.2059G>A p.G687S missense 0.00000826●●●●●●
205. 28667760 c.647C>G p.T216R missense 0.00000826●●●●●●
206. 28672179 c.239A>G p.Y80C missense 0.00000826●●●●●●
207. 28667743 c.664A>G p.T222A missense 0.00000826●●●●●●
208. 28651639 c.2057G>T p.G686V missense 0.00000826●●●●●●
209. 28667714 c.693C>G p.I231M missense 0.00000826●●●●●●
210. 28650814 c.2128A>T p.I710F missense 0.00000826●●●●●●
211. 28666667 c.814G>A p.E272K missense 0.00000826●●●●●●
212. 28672161 c.257T>C p.L86P missense 0.00000826●●●●●●
213. 28662230 c.1237A>G p.N413D missense 0.00000826●●●●●●
214. 28667761 c.646A>G p.T216A missense 0.00000826●●●●●●
215. 28654741 c.1796C>G p.P599R missense 0.00000826●●●●●●
216. 28672100 c.318G>T p.K106N missense 0.00000826●●●●●●
217. 28649074 c.2294C>T p.A765V missense 0.00000826●●●●●●
218. 28667754 c.653C>T p.P218L missense 0.00000826●●●●●●
219. 28669496 c.536A>G p.D179G missense 0.00000826●●●●●●
220. 28647988 c.2699A>G p.K900R missense 0.00000826●●●●●●
221. 28667692 c.715A>G p.N239D missense 0.00000826●●●●●●
222. 28650795 c.2147G>T p.C716F missense 0.00000825●●●●●●
223. 28659939 c.1537G>T p.D513Y missense 0.00000825●●●●●●
224. 28660281 c.1301A>G p.Q434R missense 0.00000825●●●●●●
225. 28660072 c.1510A>G p.S504G missense 0.00000825●●●●●●
226. 28651576 c.2120T>C p.L707P missense 0.00000825●●●●●●
227. 28662302 c.1165T>A p.W389R missense 0.00000825●●●●●●
228. 28649066 c.2302G>T p.V768F missense 0.00000825●●●●●●
229. 28669484 c.548G>T p.R183L missense 0.00000825●●●●●●
230. 28660273 c.1309G>A p.V437I missense 0.00000825●●●●●●
231. 28667740 c.667C>T p.P223S missense 0.00000825●●●●●●
232. 28650796 c.2146T>G p.C716G missense 0.00000825●●●●●●
233. 28660076 c.1506T>A p.S502R missense 0.00000825●●●●●●
234. 28659938 c.1538A>G p.D513G missense 0.00000825●●●●●●
235. 28662251 c.1216A>G p.I406V missense 0.00000825●●●●●●
236. 28660290 c.1292T>G p.M431R missense 0.00000825●●●●●●
237. 28660275 c.1307G>T p.G436V missense 0.00000825●●●●●●
238. 28660292 c.1290G>C p.Q430H missense 0.00000825●●●●●●
239. 28669484 c.548G>A p.R183Q missense 0.00000825●●●●●●
240. 28650694 c.2248G>C p.V750L missense 0.00000825●●●●●●
241. 28660070 c.1512T>G p.S504R missense 0.00000825●●●●●●
242. 28651624 c.2072A>C p.Q691P missense 0.00000825●●●●●●
243. 28669470 c.562G>T p.V188L missense 0.00000825●●●●●●
244. 28667733 c.674T>G p.L225R missense 0.00000825●●●●●●
245. 28662283 c.1184T>C p.I395T missense 0.00000825●●●●●●
246. 28660278 c.1304T>C p.I435T missense 0.00000825●●●●●●
247. 28673534 c.142C>T p.L48F missense 0.00000824●●●●●●
248. 28666621 c.860A>G p.Q287R missense 0.00000824●●●●●●
249. 28659818 c.1658A>G p.D553G missense 0.00000824●●●●●●
250. 28660258 c.1324C>T p.P442S missense 0.00000824●●●●●●
251. 28660171 c.1411T>A p.C471S missense 0.00000824●●●●●●
252. 28648871 c.2497C>G p.R833G missense 0.00000824●●●●●●
253. 28648976 c.2392C>T p.R798W missense 0.00000824●●●●●●
254. 28659933 c.1543A>T p.T515S missense 0.00000824●●●●●●
255. 28666601 c.880C>A p.L294I missense 0.00000824●●●●●●
256. 28650792 c.2150G>A p.G717E missense 0.00000824●●●●●●
257. 28659856 c.1620C>G p.I540M missense 0.00000824●●●●●●
258. 28659918 c.1558A>G p.I520V missense 0.00000824●●●●●●
259. 28649015 c.2353G>A p.E785K missense 0.00000824●●●●●●
260. 28648912 c.2456G>A p.C819Y missense 0.00000824●●●●●●
261. 28648960 c.2408A>G p.H803R missense 0.00000824●●●●●●
262. 28648930 c.2438A>C p.H813P missense 0.00000824●●●●●●
263. 28648118 c.2569T>C p.Y857H missense 0.00000824●●●●●●
264. 28666621 c.860A>C p.Q287P missense 0.00000824●●●●●●
265. 28659924 c.1552G>T p.V518F missense 0.00000824●●●●●●
266. 28666640 c.841A>G p.K281E missense 0.00000824●●●●●●
267. 28669413 c.619G>C p.E207Q missense 0.00000824●●●●●●
268. 28660185 c.1397A>G p.D466G missense 0.00000824●●●●●●
269. 28648880 c.2488A>C p.T830P missense 0.00000824●●●●●●
270. 28651579 c.2117T>C p.L706S missense 0.00000824●●●●●●
271. 28660105 c.1477T>C p.Y493H missense 0.00000824●●●●●●
272. 28648874 c.2494C>A p.P832T missense 0.00000824●●●●●●
273. 28673522 c.154G>A p.V52I missense 0.00000824●●●●●●
274. 28666609 c.872C>T p.S291L missense 0.00000824●●●●●●
275. 28659864 c.1612G>A p.E538K missense 0.00000824●●●●●●
276. 28648939 c.2429G>C p.R810T missense 0.00000824●●●●●●
277. 28648917 c.2451C>G p.D817E missense 0.00000824●●●●●●
278. 28648141 c.2546A>C p.H849P missense 0.00000824●●●●●●
279. 28660146 c.1436G>C p.R479P missense 0.00000824●●●●●●
280. 28648150 c.2537A>G p.N846S missense 0.00000824●●●●●●
281. 28648099 c.2588G>A p.G863E missense 0.00000824●●●●●●
282. 28666625 c.856G>A p.G286R missense 0.00000824●●●●●●
283. 28659924 c.1552G>A p.V518I missense 0.00000824●●●●●●
284. 28650790 c.2152G>T p.A718S missense 0.00000824●●●●●●
285. 28650705 c.2237G>A p.G746E missense 0.00000824●●●●●●
286. 28649017 c.2351T>C p.I784T missense 0.00000824●●●●●●
287. 28649012 c.2356A>G p.M786V missense 0.00000824●●●●●●
288. 28648893 c.2475G>C p.E825D missense 0.00000824●●●●●●
289. 28660110 c.1472A>G p.N491S missense 0.00000824●●●●●●
290. 28666612 c.869C>A p.P290Q missense 0.00000824●●●●●●
291. 28659883 c.1593A>C p.R531S missense 0.00000824●●●●●●
292. 28650741 c.2201A>C p.Q734P missense 0.00000824●●●●●●
293. 28669431 c.601G>A p.V201I missense 0.00000824●●●●●●
294. 28648949 c.2419G>C p.D807H missense 0.00000824●●●●●●
295. 28648111 c.2576A>G p.Y859C missense 0.00000824●●●●●●
296. 28660187 c.1395G>T p.Q465H missense 0.00000824●●●●●●
297. 28660147 c.1435C>T p.R479C missense 0.00000824●●●●●●
298. 28666637 c.844T>C p.Y282H missense 0.00000824●●●●●●
299. 28659844 c.1632A>G p.I544M missense 0.00000824●●●●●●
300. 28650711 c.2231C>T p.A744V missense 0.00000824●●●●●●
301. 28660228 c.1354G>T p.A452S missense 0.00000824●●●●●●
302. 28648898 c.2470T>G p.S824A missense 0.00000824●●●●●●
303. 28666550 c.931C>A p.L311I missense 0.00000824●●●●●●
304. 28649050 c.2318G>C p.G773A missense 0.00000824●●●●●●
305. 28660251 c.1331C>G p.S444C missense 0.00000824●●●●●●
306. 28648906 c.2462A>T p.Y821F missense 0.00000824●●●●●●
307. 28660113 c.1469G>A p.S490N missense 0.00000824●●●●●●
308. 28648090 c.2597C>G p.A866G 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.