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

* 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.