DSC2 protein-altering variants in ExAC

DSC2 gene summary
DSC2 variants in DCM

The table below lists the DSC2 protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 28681916 c.19T>C p.S7P missense 0.00009406●●●●●●
2. 28648970 c.2398G>T p.A800S missense 0.00008241●●●●●●
3. 28648897 c.2471C>T p.S824L missense 0.00008239●●●●●●
4. 28666580 c.901A>G p.T301A missense 0.00008237●●●●●●
5. 28671068 c.397G>A p.A133T missense 0.00007489●●●●●●
6. 28649054 c.2314G>A p.V772M missense 0.00007421●●●●●●
7. 28666646 c.835C>T p.R279C missense 0.00007420●●●●●●
8. 28666624 c.857G>T p.G286V missense 0.00007416●●●●●●
9. 28672152 c.266C>T p.S89L missense 0.00006609●●●●●●
10. 28650804 c.2138C>T p.T713M missense 0.00006599●●●●●●
11. 28660126 c.1456G>A p.V486M missense 0.00006594●●●●●●
12. 28669413 c.619G>A p.E207K missense 0.00006593●●●●●●
13. 28649104 c.2264G>T p.G755V missense 0.00005812●●●●●●
14. 28648084 c.2603C>T p.S868F missense 0.00005769●●●●●●
15. 28654771 c.1766T>C p.M589T missense 0.00004964●●●●●●
16. 28662236 c.1231A>G p.K411E missense 0.00004955●●●●●●
17. 28660146 c.1436G>T p.R479L missense 0.00004945●●●●●●
18. 28649033 c.2335G>A p.G779R missense 0.00004944●●●●●●
19. 28659842 c.1634A>G p.Y545C missense 0.00004944●●●●●●
20. 28654830 c.1707C>A p.D569E missense 0.00004195●●●●●●
21. 28649070 c.2298G>C p.Q766H missense 0.00004126●●●●●●
22. 28648987 c.2381C>T p.S794L missense 0.00004120●●●●●●
23. 28669554 c.478C>A p.Q160K missense 0.00003532●●●●●●
24. 28662951 c.1018A>G p.T340A missense 0.00003401●●●●●●
25. 28671071 c.394C>T p.R132C missense 0.00003330●●●●●●
26. 28654816 c.1721G>A p.S574N missense 0.00003330●●●●●●
27. 28654787 c.1750A>G p.I584V missense 0.00003314●●●●●●
28. 28667673 c.734A>C p.E245A missense 0.00003311●●●●●●
29. 28654735 c.1802A>C p.E601A missense 0.00003305●●●●●●
30. 28650816 c.2126G>A p.C709Y missense 0.00003304●●●●●●
31. 28649068 c.2300G>A p.G767E missense 0.00003301●●●●●●
32. 28651571 c.2125T>G p.C709G missense 0.00003298●●●●●●
33. 28648063 c.2624G>A p.R875Q missense 0.00003298●●●●●●
34. 28659930 c.1546G>C p.G516R missense 0.00003298●●●●●●
35. 28648975 c.2393G>T p.R798L missense 0.00003297●●●●●●
36. 28648096 c.2591C>T p.S864L missense 0.00003297●●●●●●
37. 28650780 c.2162C>T p.T721M missense 0.00003297●●●●●●
38. 28649040 c.2328C>G p.I776M missense 0.00003296●●●●●●
39. 28650751 c.2191G>A p.D731N missense 0.00003296●●●●●●
40. 28669544 c.488C>T p.T163M missense 0.00002563●●●●●●
41. 28671102 c.363G>T p.K121N missense 0.00002525●●●●●●
42. 28662386 c.1081G>A p.V361M missense 0.00002520●●●●●●
43. 28671070 c.395G>A p.R132H missense 0.00002497●●●●●●
44. 28673594 c.82G>T p.A28S missense 0.00002487●●●●●●
45. 28667773 c.634A>G p.I212V missense 0.00002481●●●●●●
46. 28672091 c.327A>G p.I109M missense 0.00002480●●●●●●
47. 28667688 c.719A>G p.Y240C missense 0.00002480●●●●●●
48. 28672132 c.286A>G p.I96V missense 0.00002478●●●●●●
49. 28672123 c.295T>A p.S99T missense 0.00002478●●●●●●
50. 28662248 c.1219G>T p.V407L missense 0.00002477●●●●●●
51. 28669485 c.547C>T p.R183W missense 0.00002475●●●●●●
52. 28651628 c.2068G>T p.V690L missense 0.00002475●●●●●●
53. 28666657 c.824C>T p.T275M missense 0.00002475●●●●●●
54. 28660291 c.1291A>G p.M431V missense 0.00002475●●●●●●
55. 28648023 c.2664G>T p.E888D missense 0.00002474●●●●●●
56. 28650697 c.2245A>C p.K749Q missense 0.00002473●●●●●●
57. 28648053 c.2634_2636delAGA p.Glu878del inframe 0.00002473●●●●●●
58. 28648150 c.2537A>C p.N846T missense 0.00002473●●●●●●
59. 28660240 c.1342A>G p.S448G missense 0.00002473●●●●●●
60. 28648070 c.2617A>C p.S873R missense 0.00002473●●●●●●
61. 28660267 c.1315A>G p.N439D missense 0.00002473●●●●●●
62. 28669437 c.595C>T p.R199C missense 0.00002473●●●●●●
63. 28669415 c.617A>G p.Y206C missense 0.00002472●●●●●●
64. 28660144 c.1438A>G p.M480V missense 0.00002472●●●●●●
65. 28673527 c.149G>A p.G50D missense 0.00002472●●●●●●
66. 28648927 c.2441C>T p.T814M missense 0.00002472●●●●●●
67. 28663020 c.949G>A p.D317N missense 0.00001948●●●●●●
68. 28662996 c.973G>A p.V325I missense 0.00001808●●●●●●
69. 28654858 c.1679C>T p.T560M missense 0.00001768●●●●●●
70. 28662950 c.1019C>A p.T340N missense 0.00001700●●●●●●
71. 28654658 c.1879G>A p.A627T missense 0.00001695●●●●●●
72. 28651786 c.1910A>G p.Y637C missense 0.00001676●●●●●●
73. 28671092 c.373A>G p.T125A missense 0.00001675●●●●●●
74. 28672242 c.176C>T p.T59I missense 0.00001667●●●●●●
75. 28654691 c.1846A>G p.T616A missense 0.00001657●●●●●●
76. 28654778 c.1759C>A p.P587T missense 0.00001656●●●●●●
77. 28667776 c.631A>G p.I211V missense 0.00001654●●●●●●
78. 28667695 c.712_714delGAT inframe 0.00001653●●●●●●
79. 28649081 c.2287G>A p.A763T missense 0.00001652●●●●●●
80. 28647992 c.2695A>T p.M899L missense 0.00001651●●●●●●
81. 28667725 c.682C>G p.P228A missense 0.00001651●●●●●●
82. 28666645 c.836G>A p.R279H missense 0.00001649●●●●●●
83. 28650695 c.2247A>T p.K749N missense 0.00001649●●●●●●
84. 28669424 c.608G>A p.R203H missense 0.00001648●●●●●●
85. 28666616 c.865C>T p.P289S missense 0.00001648●●●●●●
86. 28650726 c.2216T>C p.V739A missense 0.00001648●●●●●●
87. 28660232 c.1350A>C p.R450S missense 0.00001648●●●●●●
88. 28648097 c.2590T>C p.S864P missense 0.00001648●●●●●●
89. 28650736 c.2206A>G p.N736D missense 0.00001648●●●●●●
90. 28673554 c.122C>T p.S41F missense 0.00001648●●●●●●
91. 28659895 c.1581C>G p.I527M missense 0.00001648●●●●●●
92. 28649011 c.2357T>C p.M786T missense 0.00001648●●●●●●
93. 28650727 c.2215G>A p.V739I missense 0.00001648●●●●●●
94. 28648922 c.2446G>A p.V816M missense 0.00001648●●●●●●
95. 28660180 c.1402G>A p.G468S missense 0.00001648●●●●●●
96. 28666607 c.874C>T p.P292S missense 0.00001648●●●●●●
97. 28659897 c.1579A>G p.I527V missense 0.00001648●●●●●●
98. 28659839 c.1637A>G p.N546S missense 0.00001648●●●●●●
99. 28660161 c.1421C>T p.P474L missense 0.00001648●●●●●●
100. 28659908 c.1568A>G p.N523S missense 0.00001648●●●●●●
101. 28649014 c.2354A>G p.E785G missense 0.00001648●●●●●●
102. 28660207 c.1375A>G p.T459A missense 0.00001648●●●●●●
103. 28669436 c.596G>A p.R199H missense 0.00001648●●●●●●
104. 28666583 c.898A>G p.T300A missense 0.00001647●●●●●●
105. 28654874 c.1664-1G>C essential splice site 0.00001049●●●●●●
106. 28654873 c.1664G>C p.G555A missense 0.00001032●●●●●●
107. 28654861 c.1676G>A p.C559Y missense 0.00000897●●●●●●
108. 28662987 c.982A>T p.M328L missense 0.00000888●●●●●●
109. 28662980 c.989G>T p.G330V missense 0.00000877●●●●●●
110. 28666699 c.782C>T p.T261I missense 0.00000856●●●●●●
111. 28651804 c.1892C>T p.T631I missense 0.00000855●●●●●●
112. 28654844 c.1693A>G p.I565V missense 0.00000851●●●●●●
113. 28662945 c.1024A>G p.I342V missense 0.00000847●●●●●●
114. 28662946 c.1023_1024insT p.Ile342TyrfsTer3 frameshift 0.00000847●●●●●●
115. 28662935 c.1034T>C p.I345T missense 0.00000842●●●●●●
116. 28651789 c.1907C>G p.S636C missense 0.00000840●●●●●●
117. 28662921 c.1048G>T p.D350Y missense 0.00000840●●●●●●
118. 28662919 c.1050C>A p.D350E missense 0.00000839●●●●●●
119. 28662918 c.1051C>T p.H351Y missense 0.00000839●●●●●●
120. 28671097 c.368G>T p.R123I missense 0.00000839●●●●●●
121. 28671097 c.368_370delGAC p.Arg123_His124delinsAsn inframe 0.00000838●●●●●●
122. 28654667 c.1870A>G p.R624G missense 0.00000837●●●●●●
123. 28651778 c.1918G>A p.D640N missense 0.00000836●●●●●●
124. 28651772 c.1924C>G p.P642A missense 0.00000835●●●●●●
125. 28673604 c.72C>G p.I24M missense 0.00000835●●●●●●
126. 28669530 c.502A>G p.T168A missense 0.00000834●●●●●●
127. 28651750 c.1946C>T p.P649L missense 0.00000834●●●●●●
128. 28651748 c.1948A>G p.I650V missense 0.00000833●●●●●●
129. 28662376 c.1091T>G p.V364G missense 0.00000833●●●●●●
130. 28649113 c.2255C>T p.S752F missense 0.00000833●●●●●●
131. 28651717 c.1979G>A p.S660N missense 0.00000833●●●●●●
132. 28651744 c.1952C>T p.T651I missense 0.00000833●●●●●●
133. 28651745 c.1951A>G p.T651A missense 0.00000833●●●●●●
134. 28671067 c.398C>T p.A133V missense 0.00000832●●●●●●
135. 28669523 c.509A>G p.Y170C missense 0.00000832●●●●●●
136. 28672236 c.182C>G p.A61G missense 0.00000832●●●●●●
137. 28651702 c.1994A>G p.D665G missense 0.00000831●●●●●●
138. 28672232 c.186T>A p.N62K missense 0.00000831●●●●●●
139. 28651700 c.1996G>A p.V666I missense 0.00000831●●●●●●
140. 28662372 c.1095A>T p.E365D missense 0.00000830●●●●●●
141. 28669515 c.517A>T p.I173L missense 0.00000830●●●●●●
142. 28669517 c.515C>T p.S172F missense 0.00000830●●●●●●
143. 28667653 c.754A>T p.I252F missense 0.00000829●●●●●●
144. 28654690 c.1847C>T p.T616I missense 0.00000829●●●●●●
145. 28667653 c.754A>G p.I252V missense 0.00000829●●●●●●
146. 28672216 c.202G>C p.D68H missense 0.00000829●●●●●●
147. 28651679 c.2017A>G p.T673A missense 0.00000829●●●●●●
148. 28654790 c.1747A>G p.I583V missense 0.00000829●●●●●●
149. 28671049 c.416C>T p.P139L missense 0.00000829●●●●●●
150. 28672218 c.200G>A p.S67N missense 0.00000829●●●●●●
151. 28662364 c.1103C>T p.T368I missense 0.00000828●●●●●●
152. 28672210 c.208G>C p.D70H missense 0.00000828●●●●●●
153. 28671037 c.428C>T p.S143L missense 0.00000828●●●●●●
154. 28654787 c.1750A>T p.I584F missense 0.00000828●●●●●●
155. 28654777 c.1760C>T p.P587L missense 0.00000828●●●●●●
156. 28673591 c.85A>T p.S29C missense 0.00000828●●●●●●
157. 28671028 c.437A>T p.E146V missense 0.00000828●●●●●●
158. 28654699 c.1838A>G p.E613G missense 0.00000828●●●●●●
159. 28672063 c.354+1G>A essential splice site 0.00000828●●●●●●
160. 28662206 c.1261A>C p.K421Q missense 0.00000828●●●●●●
161. 28654700 c.1837G>C p.E613Q missense 0.00000828●●●●●●
162. 28649092 c.2276A>G p.Q759R missense 0.00000827●●●●●●
163. 28667778 c.631-2A>G p.Ile211MetfsX11 frameshift 0.00000827●●●●●●
164. 28667692 c.715_728dupAACTACCCAATTTT p.Phe243LeufsTer43 frameshift 0.00000827●●●●●●
165. 28651658 c.2038C>A p.R680S missense 0.00000827●●●●●●
166. 28671023 c.442T>A p.S148T missense 0.00000827●●●●●●
167. 28672202 c.216A>C p.Q72H missense 0.00000827●●●●●●
168. 28667776 c.631A>T p.I211L missense 0.00000827●●●●●●
169. 28651657 c.2039G>A p.R680H missense 0.00000827●●●●●●
170. 28672097 c.321G>T p.K107N missense 0.00000827●●●●●●
171. 28660312 c.1270A>G p.N424D missense 0.00000827●●●●●●
172. 28651658 c.2038C>T p.R680C missense 0.00000827●●●●●●
173. 28651657 c.2039G>T p.R680L missense 0.00000827●●●●●●
174. 28672188 c.230G>T p.G77V missense 0.00000827●●●●●●
175. 28651660 c.2036A>G p.H679R missense 0.00000827●●●●●●
176. 28671014 c.451C>A p.P151T missense 0.00000827●●●●●●
177. 28662346 c.1121delT p.Leu374TyrfsTer10 frameshift 0.00000826●●●●●●
178. 28667692 c.715A>G p.N239D missense 0.00000826●●●●●●
179. 28651637 c.2059G>A p.G687S missense 0.00000826●●●●●●
180. 28667744 c.663T>A p.Y221X nonsense 0.00000826●●●●●●
181. 28662352 c.1115A>C p.E372A missense 0.00000826●●●●●●
182. 28654741 c.1796C>G p.P599R missense 0.00000826●●●●●●
183. 28667760 c.647C>T p.T216I missense 0.00000826●●●●●●
184. 28654730 c.1807A>G p.I603V missense 0.00000826●●●●●●
185. 28667749 c.658G>A p.G220R missense 0.00000826●●●●●●
186. 28667705 c.702G>C p.E234D missense 0.00000826●●●●●●
187. 28672147 c.271A>G p.K91E missense 0.00000826●●●●●●
188. 28662225 c.1242A>T p.E414D missense 0.00000826●●●●●●
189. 28667760 c.647C>G p.T216R missense 0.00000826●●●●●●
190. 28667743 c.664A>G p.T222A missense 0.00000826●●●●●●
191. 28666667 c.814G>A p.E272K missense 0.00000826●●●●●●
192. 28647988 c.2699A>G p.K900R missense 0.00000826●●●●●●
193. 28667714 c.693C>G p.I231M missense 0.00000826●●●●●●
194. 28672161 c.257T>C p.L86P missense 0.00000826●●●●●●
195. 28651639 c.2057G>T p.G686V missense 0.00000826●●●●●●
196. 28672179 c.239A>G p.Y80C missense 0.00000826●●●●●●
197. 28662230 c.1237A>G p.N413D missense 0.00000826●●●●●●
198. 28667761 c.646A>G p.T216A missense 0.00000826●●●●●●
199. 28667754 c.653C>T p.P218L missense 0.00000826●●●●●●
200. 28669496 c.536A>G p.D179G missense 0.00000826●●●●●●
201. 28672100 c.318G>T p.K106N missense 0.00000826●●●●●●
202. 28649074 c.2294C>T p.A765V missense 0.00000826●●●●●●
203. 28650814 c.2128A>T p.I710F missense 0.00000826●●●●●●
204. 28660072 c.1510A>G p.S504G missense 0.00000825●●●●●●
205. 28651624 c.2072A>C p.Q691P missense 0.00000825●●●●●●
206. 28649066 c.2302G>T p.V768F missense 0.00000825●●●●●●
207. 28669484 c.548G>T p.R183L missense 0.00000825●●●●●●
208. 28660281 c.1301A>G p.Q434R missense 0.00000825●●●●●●
209. 28667740 c.667C>T p.P223S missense 0.00000825●●●●●●
210. 28650795 c.2147G>T p.C716F missense 0.00000825●●●●●●
211. 28667733 c.674T>G p.L225R missense 0.00000825●●●●●●
212. 28651571 c.2125delT frameshift 0.00000825●●●●●●
213. 28660292 c.1290G>C p.Q430H missense 0.00000825●●●●●●
214. 28660273 c.1309G>A p.V437I missense 0.00000825●●●●●●
215. 28660076 c.1506T>A p.S502R missense 0.00000825●●●●●●
216. 28669484 c.548G>A p.R183Q missense 0.00000825●●●●●●
217. 28669470 c.562G>T p.V188L missense 0.00000825●●●●●●
218. 28660290 c.1292T>G p.M431R missense 0.00000825●●●●●●
219. 28659939 c.1537G>T p.D513Y missense 0.00000825●●●●●●
220. 28659938 c.1538A>G p.D513G missense 0.00000825●●●●●●
221. 28651576 c.2120T>C p.L707P missense 0.00000825●●●●●●
222. 28648064 c.2623C>T p.R875X nonsense 0.00000825●●●●●●
223. 28650796 c.2146T>G p.C716G missense 0.00000825●●●●●●
224. 28651570 c.2125+1G>A essential splice site 0.00000825●●●●●●
225. 28662251 c.1216A>G p.I406V missense 0.00000825●●●●●●
226. 28660275 c.1307G>T p.G436V missense 0.00000825●●●●●●
227. 28650694 c.2248G>C p.V750L missense 0.00000825●●●●●●
228. 28660070 c.1512T>G p.S504R missense 0.00000825●●●●●●
229. 28662302 c.1165T>A p.W389R missense 0.00000825●●●●●●
230. 28662283 c.1184T>C p.I395T missense 0.00000825●●●●●●
231. 28660278 c.1304T>C p.I435T missense 0.00000825●●●●●●
232. 28660113 c.1469G>A p.S490N missense 0.00000824●●●●●●
233. 28648090 c.2597C>G p.A866G missense 0.00000824●●●●●●
234. 28669431 c.601G>A p.V201I missense 0.00000824●●●●●●
235. 28666601 c.880C>A p.L294I missense 0.00000824●●●●●●
236. 28659883 c.1593A>C p.R531S missense 0.00000824●●●●●●
237. 28650742 c.2200C>T p.Q734X nonsense 0.00000824●●●●●●
238. 28673534 c.142C>T p.L48F missense 0.00000824●●●●●●
239. 28666621 c.860A>G p.Q287R missense 0.00000824●●●●●●
240. 28648930 c.2438A>C p.H813P missense 0.00000824●●●●●●
241. 28660171 c.1411T>A p.C471S missense 0.00000824●●●●●●
242. 28648871 c.2497C>G p.R833G missense 0.00000824●●●●●●
243. 28648118 c.2569T>C p.Y857H missense 0.00000824●●●●●●
244. 28673520 c.154+2T>C essential splice site 0.00000824●●●●●●
245. 28659933 c.1543A>T p.T515S missense 0.00000824●●●●●●
246. 28648141 c.2546A>C p.H849P missense 0.00000824●●●●●●
247. 28659844 c.1632A>G p.I544M missense 0.00000824●●●●●●
248. 28659821 c.1655C>G p.S552X nonsense 0.00000824●●●●●●
249. 28660105 c.1477T>C p.Y493H missense 0.00000824●●●●●●
250. 28649015 c.2353G>A p.E785K missense 0.00000824●●●●●●
251. 28660147 c.1435C>T p.R479C missense 0.00000824●●●●●●
252. 28648912 c.2456G>A p.C819Y missense 0.00000824●●●●●●
253. 28666621 c.860A>C p.Q287P missense 0.00000824●●●●●●
254. 28659924 c.1552G>T p.V518F missense 0.00000824●●●●●●
255. 28666609 c.872C>T p.S291L missense 0.00000824●●●●●●
256. 28660258 c.1324C>T p.P442S missense 0.00000824●●●●●●
257. 28648939 c.2429G>C p.R810T missense 0.00000824●●●●●●
258. 28648960 c.2408A>G p.H803R missense 0.00000824●●●●●●
259. 28660185 c.1397A>G p.D466G missense 0.00000824●●●●●●
260. 28648880 c.2488A>C p.T830P missense 0.00000824●●●●●●
261. 28648150 c.2537A>G p.N846S missense 0.00000824●●●●●●
262. 28650705 c.2237G>A p.G746E missense 0.00000824●●●●●●
263. 28660228 c.1354G>T p.A452S missense 0.00000824●●●●●●
264. 28673522 c.154G>A p.V52I missense 0.00000824●●●●●●
265. 28659856 c.1620C>G p.I540M missense 0.00000824●●●●●●
266. 28649017 c.2351T>C p.I784T missense 0.00000824●●●●●●
267. 28648917 c.2451C>G p.D817E missense 0.00000824●●●●●●
268. 28648874 c.2494C>A p.P832T missense 0.00000824●●●●●●
269. 28660110 c.1472A>G p.N491S missense 0.00000824●●●●●●
270. 28648099 c.2588G>A p.G863E missense 0.00000824●●●●●●
271. 28650792 c.2150G>A p.G717E missense 0.00000824●●●●●●
272. 28666556 c.925delT p.Ser309LeufsTer3 frameshift 0.00000824●●●●●●
273. 28660146 c.1436G>C p.R479P missense 0.00000824●●●●●●
274. 28666625 c.856G>A p.G286R missense 0.00000824●●●●●●
275. 28659924 c.1552G>A p.V518I missense 0.00000824●●●●●●
276. 28648895 c.2473G>T p.Glu825Ter nonsense 0.00000824●●●●●●
277. 28649012 c.2356A>G p.M786V missense 0.00000824●●●●●●
278. 28660187 c.1395G>T p.Q465H missense 0.00000824●●●●●●
279. 28648893 c.2475G>C p.E825D missense 0.00000824●●●●●●
280. 28666640 c.841A>G p.K281E missense 0.00000824●●●●●●
281. 28651579 c.2117T>C p.L706S missense 0.00000824●●●●●●
282. 28669413 c.619G>C p.E207Q missense 0.00000824●●●●●●
283. 28650741 c.2201A>C p.Q734P missense 0.00000824●●●●●●
284. 28650711 c.2231C>T p.A744V missense 0.00000824●●●●●●
285. 28648976 c.2392C>T p.R798W missense 0.00000824●●●●●●
286. 28666612 c.869C>A p.P290Q missense 0.00000824●●●●●●
287. 28666550 c.931C>A p.L311I missense 0.00000824●●●●●●
288. 28659864 c.1612G>A p.E538K missense 0.00000824●●●●●●
289. 28649050 c.2318G>C p.G773A missense 0.00000824●●●●●●
290. 28648898 c.2470T>G p.S824A missense 0.00000824●●●●●●
291. 28648949 c.2419G>C p.D807H missense 0.00000824●●●●●●
292. 28648111 c.2576A>G p.Y859C missense 0.00000824●●●●●●
293. 28666566 c.915_917delCAC p.Thr307del inframe 0.00000824●●●●●●
294. 28648970 c.2398dupG p.Ala800GlyfsTer37 frameshift 0.00000824●●●●●●
295. 28666637 c.844T>C p.Y282H missense 0.00000824●●●●●●
296. 28650790 c.2152G>T p.A718S missense 0.00000824●●●●●●
297. 28659818 c.1658A>G p.D553G missense 0.00000824●●●●●●
298. 28659918 c.1558A>G p.I520V missense 0.00000824●●●●●●
299. 28660251 c.1331C>G p.S444C missense 0.00000824●●●●●●
300. 28648906 c.2462A>T p.Y821F 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.