DSC2 protein-altering variants in ExAC


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