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. 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. 28654816 c.1721G>A p.S574N missense 0.00003330
26. 28671071 c.394C>T p.R132C 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. 28648063 c.2624G>A p.R875Q missense 0.00003298
33. 28659930 c.1546G>C p.G516R missense 0.00003298
34. 28651571 c.2125T>G p.C709G missense 0.00003298
35. 28648096 c.2591C>T p.S864L missense 0.00003297
36. 28648975 c.2393G>T p.R798L missense 0.00003297
37. 28650780 c.2162C>T p.T721M missense 0.00003297
38. 28650751 c.2191G>A p.D731N missense 0.00003296
39. 28649040 c.2328C>G p.I776M 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. 28666657 c.824C>T p.T275M missense 0.00002475
52. 28660291 c.1291A>G p.M431V missense 0.00002475
53. 28669485 c.547C>T p.R183W missense 0.00002475
54. 28651628 c.2068G>T p.V690L missense 0.00002475
55. 28648023 c.2664G>T p.E888D missense 0.00002474
56. 28648150 c.2537A>C p.N846T missense 0.00002473
57. 28648070 c.2617A>C p.S873R missense 0.00002473
58. 28650697 c.2245A>C p.K749Q missense 0.00002473
59. 28660240 c.1342A>G p.S448G missense 0.00002473
60. 28660267 c.1315A>G p.N439D missense 0.00002473
61. 28669437 c.595C>T p.R199C missense 0.00002473
62. 28648053 c.2634_2636delAGA p.Glu878del inframe 0.00002473
63. 28673527 c.149G>A p.G50D missense 0.00002472
64. 28648927 c.2441C>T p.T814M missense 0.00002472
65. 28669415 c.617A>G p.Y206C missense 0.00002472
66. 28660144 c.1438A>G p.M480V 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. 28660232 c.1350A>C p.R450S missense 0.00001648
85. 28650726 c.2216T>C p.V739A missense 0.00001648
86. 28669436 c.596G>A p.R199H missense 0.00001648
87. 28649014 c.2354A>G p.E785G missense 0.00001648
88. 28669424 c.608G>A p.R203H missense 0.00001648
89. 28660180 c.1402G>A p.G468S missense 0.00001648
90. 28650727 c.2215G>A p.V739I missense 0.00001648
91. 28666616 c.865C>T p.P289S missense 0.00001648
92. 28659895 c.1581C>G p.I527M missense 0.00001648
93. 28648922 c.2446G>A p.V816M missense 0.00001648
94. 28649011 c.2357T>C p.M786T missense 0.00001648
95. 28650736 c.2206A>G p.N736D missense 0.00001648
96. 28666607 c.874C>T p.P292S missense 0.00001648
97. 28660161 c.1421C>T p.P474L missense 0.00001648
98. 28659897 c.1579A>G p.I527V missense 0.00001648
99. 28673554 c.122C>T p.S41F missense 0.00001648
100. 28659839 c.1637A>G p.N546S missense 0.00001648
101. 28660207 c.1375A>G p.T459A missense 0.00001648
102. 28648097 c.2590T>C p.S864P missense 0.00001648
103. 28659908 c.1568A>G p.N523S 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. 28662918 c.1051C>T p.H351Y missense 0.00000839
119. 28662919 c.1050C>A p.D350E 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. 28673604 c.72C>G p.I24M missense 0.00000835
125. 28651772 c.1924C>G p.P642A missense 0.00000835
126. 28669530 c.502A>G p.T168A missense 0.00000834
127. 28651750 c.1946C>T p.P649L missense 0.00000834
128. 28651744 c.1952C>T p.T651I missense 0.00000833
129. 28649113 c.2255C>T p.S752F missense 0.00000833
130. 28662376 c.1091T>G p.V364G missense 0.00000833
131. 28651745 c.1951A>G p.T651A missense 0.00000833
132. 28651748 c.1948A>G p.I650V missense 0.00000833
133. 28651717 c.1979G>A p.S660N missense 0.00000833
134. 28672236 c.182C>G p.A61G missense 0.00000832
135. 28671067 c.398C>T p.A133V missense 0.00000832
136. 28669523 c.509A>G p.Y170C missense 0.00000832
137. 28672232 c.186T>A p.N62K missense 0.00000831
138. 28651700 c.1996G>A p.V666I missense 0.00000831
139. 28651702 c.1994A>G p.D665G missense 0.00000831
140. 28669515 c.517A>T p.I173L missense 0.00000830
141. 28669517 c.515C>T p.S172F missense 0.00000830
142. 28662372 c.1095A>T p.E365D missense 0.00000830
143. 28672218 c.200G>A p.S67N missense 0.00000829
144. 28651679 c.2017A>G p.T673A missense 0.00000829
145. 28667653 c.754A>T p.I252F missense 0.00000829
146. 28654790 c.1747A>G p.I583V missense 0.00000829
147. 28667653 c.754A>G p.I252V missense 0.00000829
148. 28671049 c.416C>T p.P139L missense 0.00000829
149. 28654690 c.1847C>T p.T616I missense 0.00000829
150. 28672216 c.202G>C p.D68H missense 0.00000829
151. 28654699 c.1838A>G p.E613G missense 0.00000828
152. 28671037 c.428C>T p.S143L missense 0.00000828
153. 28671028 c.437A>T p.E146V missense 0.00000828
154. 28654700 c.1837G>C p.E613Q missense 0.00000828
155. 28662206 c.1261A>C p.K421Q missense 0.00000828
156. 28672210 c.208G>C p.D70H missense 0.00000828
157. 28654787 c.1750A>T p.I584F missense 0.00000828
158. 28662364 c.1103C>T p.T368I missense 0.00000828
159. 28672063 c.354+1G>A essential splice site 0.00000828
160. 28654777 c.1760C>T p.P587L missense 0.00000828
161. 28673591 c.85A>T p.S29C missense 0.00000828
162. 28667776 c.631A>T p.I211L missense 0.00000827
163. 28649092 c.2276A>G p.Q759R missense 0.00000827
164. 28651657 c.2039G>T p.R680L missense 0.00000827
165. 28672202 c.216A>C p.Q72H missense 0.00000827
166. 28660312 c.1270A>G p.N424D missense 0.00000827
167. 28651657 c.2039G>A p.R680H missense 0.00000827
168. 28667692 c.715_728dupAACTACCCAATTTT p.Phe243LeufsTer43 frameshift 0.00000827
169. 28672097 c.321G>T p.K107N missense 0.00000827
170. 28672188 c.230G>T p.G77V missense 0.00000827
171. 28651658 c.2038C>T p.R680C missense 0.00000827
172. 28671014 c.451C>A p.P151T missense 0.00000827
173. 28651660 c.2036A>G p.H679R missense 0.00000827
174. 28651658 c.2038C>A p.R680S missense 0.00000827
175. 28671023 c.442T>A p.S148T missense 0.00000827
176. 28667778 c.631-2A>G p.Ile211MetfsX11 frameshift 0.00000827
177. 28647988 c.2699A>G p.K900R missense 0.00000826
178. 28662230 c.1237A>G p.N413D missense 0.00000826
179. 28672161 c.257T>C p.L86P missense 0.00000826
180. 28662346 c.1121delT p.Leu374TyrfsTer10 frameshift 0.00000826
181. 28667760 c.647C>G p.T216R missense 0.00000826
182. 28667705 c.702G>C p.E234D missense 0.00000826
183. 28672100 c.318G>T p.K106N missense 0.00000826
184. 28654741 c.1796C>G p.P599R missense 0.00000826
185. 28667743 c.664A>G p.T222A missense 0.00000826
186. 28667749 c.658G>A p.G220R missense 0.00000826
187. 28662352 c.1115A>C p.E372A missense 0.00000826
188. 28667761 c.646A>G p.T216A missense 0.00000826
189. 28667714 c.693C>G p.I231M missense 0.00000826
190. 28650814 c.2128A>T p.I710F missense 0.00000826
191. 28666667 c.814G>A p.E272K missense 0.00000826
192. 28654730 c.1807A>G p.I603V missense 0.00000826
193. 28651637 c.2059G>A p.G687S missense 0.00000826
194. 28651639 c.2057G>T p.G686V missense 0.00000826
195. 28667754 c.653C>T p.P218L missense 0.00000826
196. 28672179 c.239A>G p.Y80C missense 0.00000826
197. 28667744 c.663T>A p.Y221X nonsense 0.00000826
198. 28649074 c.2294C>T p.A765V missense 0.00000826
199. 28662225 c.1242A>T p.E414D missense 0.00000826
200. 28672147 c.271A>G p.K91E missense 0.00000826
201. 28669496 c.536A>G p.D179G missense 0.00000826
202. 28667760 c.647C>T p.T216I missense 0.00000826
203. 28667692 c.715A>G p.N239D missense 0.00000826
204. 28650795 c.2147G>T p.C716F missense 0.00000825
205. 28669470 c.562G>T p.V188L missense 0.00000825
206. 28667740 c.667C>T p.P223S missense 0.00000825
207. 28660275 c.1307G>T p.G436V missense 0.00000825
208. 28651576 c.2120T>C p.L707P missense 0.00000825
209. 28660076 c.1506T>A p.S502R missense 0.00000825
210. 28662283 c.1184T>C p.I395T missense 0.00000825
211. 28649066 c.2302G>T p.V768F missense 0.00000825
212. 28650796 c.2146T>G p.C716G missense 0.00000825
213. 28659938 c.1538A>G p.D513G missense 0.00000825
214. 28651571 c.2125delT frameshift 0.00000825
215. 28660278 c.1304T>C p.I435T missense 0.00000825
216. 28662302 c.1165T>A p.W389R missense 0.00000825
217. 28667733 c.674T>G p.L225R missense 0.00000825
218. 28650694 c.2248G>C p.V750L missense 0.00000825
219. 28651570 c.2125+1G>A essential splice site 0.00000825
220. 28660070 c.1512T>G p.S504R missense 0.00000825
221. 28659939 c.1537G>T p.D513Y missense 0.00000825
222. 28660281 c.1301A>G p.Q434R missense 0.00000825
223. 28651624 c.2072A>C p.Q691P missense 0.00000825
224. 28660292 c.1290G>C p.Q430H missense 0.00000825
225. 28660273 c.1309G>A p.V437I missense 0.00000825
226. 28660072 c.1510A>G p.S504G missense 0.00000825
227. 28648064 c.2623C>T p.R875X nonsense 0.00000825
228. 28669484 c.548G>T p.R183L missense 0.00000825
229. 28669484 c.548G>A p.R183Q missense 0.00000825
230. 28662251 c.1216A>G p.I406V missense 0.00000825
231. 28660290 c.1292T>G p.M431R missense 0.00000825
232. 28666637 c.844T>C p.Y282H missense 0.00000824
233. 28648893 c.2475G>C p.E825D missense 0.00000824
234. 28666566 c.915_917delCAC p.Thr307del inframe 0.00000824
235. 28666550 c.931C>A p.L311I missense 0.00000824
236. 28648099 c.2588G>A p.G863E missense 0.00000824
237. 28659933 c.1543A>T p.T515S missense 0.00000824
238. 28648970 c.2398dupG p.Ala800GlyfsTer37 frameshift 0.00000824
239. 28659883 c.1593A>C p.R531S missense 0.00000824
240. 28659818 c.1658A>G p.D553G missense 0.00000824
241. 28669413 c.619G>C p.E207Q missense 0.00000824
242. 28660185 c.1397A>G p.D466G missense 0.00000824
243. 28673520 c.154+2T>C essential splice site 0.00000824
244. 28666621 c.860A>G p.Q287R missense 0.00000824
245. 28659924 c.1552G>T p.V518F missense 0.00000824
246. 28648960 c.2408A>G p.H803R missense 0.00000824
247. 28659844 c.1632A>G p.I544M missense 0.00000824
248. 28660228 c.1354G>T p.A452S missense 0.00000824
249. 28648906 c.2462A>T p.Y821F missense 0.00000824
250. 28648111 c.2576A>G p.Y859C missense 0.00000824
251. 28648976 c.2392C>T p.R798W missense 0.00000824
252. 28660146 c.1436G>C p.R479P missense 0.00000824
253. 28666601 c.880C>A p.L294I missense 0.00000824
254. 28649015 c.2353G>A p.E785K missense 0.00000824
255. 28673534 c.142C>T p.L48F missense 0.00000824
256. 28651579 c.2117T>C p.L706S missense 0.00000824
257. 28648874 c.2494C>A p.P832T missense 0.00000824
258. 28659821 c.1655C>G p.S552X nonsense 0.00000824
259. 28648930 c.2438A>C p.H813P missense 0.00000824
260. 28669431 c.601G>A p.V201I missense 0.00000824
261. 28648871 c.2497C>G p.R833G missense 0.00000824
262. 28660187 c.1395G>T p.Q465H missense 0.00000824
263. 28666621 c.860A>C p.Q287P missense 0.00000824
264. 28648090 c.2597C>G p.A866G missense 0.00000824
265. 28660110 c.1472A>G p.N491S missense 0.00000824
266. 28650705 c.2237G>A p.G746E missense 0.00000824
267. 28659924 c.1552G>A p.V518I missense 0.00000824
268. 28659856 c.1620C>G p.I540M missense 0.00000824
269. 28660251 c.1331C>G p.S444C missense 0.00000824
270. 28648895 c.2473G>T p.Glu825Ter nonsense 0.00000824
271. 28648912 c.2456G>A p.C819Y missense 0.00000824
272. 28648118 c.2569T>C p.Y857H missense 0.00000824
273. 28650741 c.2201A>C p.Q734P missense 0.00000824
274. 28666609 c.872C>T p.S291L missense 0.00000824
275. 28649017 c.2351T>C p.I784T missense 0.00000824
276. 28659918 c.1558A>G p.I520V missense 0.00000824
277. 28648939 c.2429G>C p.R810T missense 0.00000824
278. 28648880 c.2488A>C p.T830P missense 0.00000824
279. 28660258 c.1324C>T p.P442S missense 0.00000824
280. 28650790 c.2152G>T p.A718S missense 0.00000824
281. 28666625 c.856G>A p.G286R missense 0.00000824
282. 28650711 c.2231C>T p.A744V missense 0.00000824
283. 28666556 c.925delT p.Ser309LeufsTer3 frameshift 0.00000824
284. 28660113 c.1469G>A p.S490N missense 0.00000824
285. 28666640 c.841A>G p.K281E missense 0.00000824
286. 28659864 c.1612G>A p.E538K missense 0.00000824
287. 28649012 c.2356A>G p.M786V missense 0.00000824
288. 28673522 c.154G>A p.V52I missense 0.00000824
289. 28650792 c.2150G>A p.G717E missense 0.00000824
290. 28648917 c.2451C>G p.D817E missense 0.00000824
291. 28648898 c.2470T>G p.S824A missense 0.00000824
292. 28666612 c.869C>A p.P290Q missense 0.00000824
293. 28648150 c.2537A>G p.N846S missense 0.00000824
294. 28660171 c.1411T>A p.C471S missense 0.00000824
295. 28650742 c.2200C>T p.Q734X nonsense 0.00000824
296. 28648141 c.2546A>C p.H849P missense 0.00000824
297. 28660147 c.1435C>T p.R479C missense 0.00000824
298. 28649050 c.2318G>C p.G773A missense 0.00000824
299. 28648949 c.2419G>C p.D807H missense 0.00000824
300. 28660105 c.1477T>C p.Y493H 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.