VCL protein-altering variants in ExAC


The table below lists the VCL 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. 75757985 c.20G>T p.R7L missense 0.00001007
2. 75757997 c.32G>A p.S11N missense 0.00008135
3. 75757999 c.34A>G p.I12V missense 0.00001016
4. 75758032 c.67C>A p.L23M missense 0.00002375
5. 75758046 c.81_82insG p.Glu28GlyfsTer12 frameshift 0.00001460
6. 75758095 c.130G>A p.V44M missense 0.00004500
7. 75758123 c.158A>G p.N53S missense 0.00006433
8. 75802856 c.184G>A p.V62I missense 0.00000827
9. 75802857 c.185T>C p.V62A missense 0.00000827
10. 75802869 c.197A>G p.E66G missense 0.00000826
11. 75802891 c.219T>A p.D73E missense 0.00000825
12. 75802896 c.224C>T p.P75L missense 0.00001650
13. 75802910 c.238A>C p.K80Q missense 0.00001651
14. 75830460 c.272C>A p.A91E missense 0.00000824
15. 75830465 c.277C>T p.Q93X nonsense 0.00001647
16. 75830470 c.282G>A p.M94I missense 0.00001647
17. 75830501 c.313C>T p.R105X nonsense 0.00000824
18. 75830754 c.412T>G p.C138G missense 0.00000825
19. 75830797 c.455A>G p.E152G missense 0.00000824
20. 75830814 c.472G>T p.V158F missense 0.00002474
21. 75830824 c.482C>T p.T161I missense 0.00000825
22. 75832492 c.504G>A p.M168I missense 0.00000824
23. 75832496 c.508A>G p.K170E missense 0.00000824
24. 75832499 c.511A>G p.M171V missense 0.00001648
25. 75832515 c.527A>G p.D176G missense 0.00000824
26. 75832536 c.548C>T p.T183I missense 0.00000824
27. 75832551 c.563G>A p.R188Q missense 0.00001648
28. 75832553 c.565G>T p.V189L missense 0.00004119
29. 75832553 c.565G>C p.V189L missense 0.00000824
30. 75832573 c.585G>A p.M195I missense 0.00000824
31. 75832580 c.592G>T p.V198L missense 0.00000824
32. 75832580 c.592G>A p.V198M missense 0.00000824
33. 75834503 c.625A>T p.M209L missense 0.00002506
34. 75834503 c.625A>G p.M209V missense 0.00001671
35. 75834513 c.635T>C p.F212S missense 0.00000832
36. 75834519 c.641C>T p.T214I missense 0.00001662
37. 75834531 c.653_654insA p.N220Kfs*21 frameshift 0.00000828
38. 75834566 c.688C>T p.R230C missense 0.00006598
39. 75834567 c.689G>A p.R230H missense 0.00002474
40. 75834579 c.701T>C p.V234A missense 0.00000824
41. 75834582 c.704A>G p.E235G missense 0.00000824
42. 75834597 c.719A>C p.E240A missense 0.00000824
43. 75834624 c.746A>G p.Q249R missense 0.00000824
44. 75834652 c.774G>A p.W258X nonsense 0.00000825
45. 75842215 c.787A>T p.T263S missense 0.00006613
46. 75842216 c.788C>G p.T263S missense 0.00002480
47. 75842234 c.806C>G p.A269G missense 0.00001651
48. 75842237 c.809T>C p.L270S missense 0.00000825
49. 75842240 c.812C>T p.A271V missense 0.00000825
50. 75842245 c.817A>C p.I273L missense 0.00000825
51. 75842246 c.818T>C p.I273T missense 0.00000825
52. 75842251 c.823T>G p.S275A missense 0.00002475
53. 75842255 c.827A>G p.K276R missense 0.00000825
54. 75842257 c.829C>A p.L277M missense 0.00004126
55. 75842272 c.844G>T p.G282C missense 0.00000825
56. 75842281 c.853C>T p.R285C missense 0.00001651
57. 75842291 c.863G>C p.S288T missense 0.00000826
58. 75843124 c.875G>A p.G292E missense 0.00000824
59. 75843137 c.888G>T p.E296D missense 0.00000824
60. 75843172 c.923A>T p.K308I missense 0.00000824
61. 75843177 c.928G>A p.G310S missense 0.00000824
62. 75843190 c.941C>A p.A314E missense 0.00001648
63. 75843196 c.947A>C p.K316T missense 0.00000824
64. 75843198 c.949G>C p.E317Q missense 0.00000824
65. 75843201 c.952C>T p.R318C missense 0.00002472
66. 75843217 c.968G>A p.G323E missense 0.00000824
67. 75843255 c.1006G>A p.A336T missense 0.00002493
68. 75843256 c.1007C>T p.A336V missense 0.00000831
69. 75843262 c.1013_1014insCC p.Arg339ProfsTer40 frameshift 0.00000834
70. 75843264 c.1015C>T p.R339C missense 0.00002508
71. 75843268 c.1019C>T p.A340V missense 0.00004192
72. 75848961 c.1030G>A p.G344R missense 0.00000835
73. 75848962 c.1031G>C p.G344A missense 0.00003338
74. 75848970 c.1039C>T p.P347S missense 0.00000834
75. 75848971 c.1040C>T p.P347L missense 0.00004169
76. 75848976 c.1045G>A p.A349T missense 0.00000833
77. 75848977 c.1046C>T p.A349V missense 0.00001665
78. 75848980 c.1049T>C p.M350T missense 0.00000832
79. 75848981 c.1050G>A p.M350I missense 0.00009152
80. 75849045 c.1114C>T p.R372C missense 0.00001652
81. 75849046 c.1115G>T p.R372L missense 0.00002477
82. 75849052 c.1121T>C p.L374P missense 0.00000825
83. 75849064 c.1133C>T p.T378I missense 0.00004125
84. 75849796 c.1192C>T p.P398S missense 0.00007416
85. 75849799 c.1195A>C p.N399H missense 0.00005768
86. 75849799 c.1195A>G p.N399D missense 0.00000824
87. 75849802 c.1198G>T p.G400C missense 0.00003296
88. 75849809 c.1205C>T p.P402L missense 0.00000824
89. 75849813 c.1209_1211delAGG p.Gly404del inframe 0.00000824
90. 75849829 c.1225C>T p.R409X nonsense 0.00001648
91. 75849829 c.1225C>G p.R409G missense 0.00000824
92. 75849850 c.1246C>T p.R416W missense 0.00001648
93. 75849851 c.1247G>A p.R416Q missense 0.00001648
94. 75849857 c.1253T>C p.I418T missense 0.00000824
95. 75849862 c.1258G>A p.E420K missense 0.00000824
96. 75849872 c.1268A>G p.D423G missense 0.00001647
97. 75849891 c.1287T>A p.D429E missense 0.00002471
98. 75849896 c.1292T>G p.I431S missense 0.00000824
99. 75849901 c.1297C>T p.R433C missense 0.00009885
100. 75849902 c.1298G>A p.R433H missense 0.00000824
101. 75849905 c.1301C>A p.S434Y missense 0.00000824
102. 75849913 c.1309G>A p.E437K missense 0.00000824
103. 75849916 c.1312A>T p.I438L missense 0.00000824
104. 75849938 c.1334T>C p.L445S missense 0.00000824
105. 75849950 c.1346G>T p.R449L missense 0.00000824
106. 75854031 c.1355G>T p.G452V missense 0.00000826
107. 75854052 c.1376C>G p.A459G missense 0.00004131
108. 75854066 c.1390A>G p.K464E missense 0.00006611
109. 75854070 c.1394A>C p.Q465P missense 0.00002480
110. 75854078 c.1402A>G p.T468A missense 0.00001653
111. 75854079 c.1403C>T p.T468M missense 0.00008265
112. 75854100 c.1424C>A p.T475N missense 0.00001654
113. 75854103 c.1427A>G p.K476R missense 0.00000827
114. 75854109 c.1433A>G p.N478S missense 0.00002483
115. 75854111 c.1435C>T p.R479W missense 0.00000828
116. 75854152 c.1476C>G p.H492Q missense 0.00001668
117. 75854166 c.1490T>C p.I497T missense 0.00004192
118. 75854178 c.1502A>G p.Q501R missense 0.00000849
119. 75854180 c.1504C>T p.R502W missense 0.00000851
120. 75854181 c.1505G>A p.R502Q missense 0.00008514
121. 75854187 c.1511T>C p.I504T missense 0.00006017
122. 75854210 c.1534C>T p.R512C missense 0.00003697
123. 75854211 c.1535G>A p.R512H missense 0.00003732
124. 75854211 c.1535G>T p.R512L missense 0.00000933
125. 75855429 c.1559G>T p.R520L missense 0.00000824
126. 75855453 c.1583G>A p.R528H missense 0.00001648
127. 75855467 c.1597A>G p.M533V missense 0.00000824
128. 75855469 c.1599G>C p.M533I missense 0.00000824
129. 75855476 c.1606C>A p.P536T missense 0.00004120
130. 75855476 c.1606C>T p.P536S missense 0.00000824
131. 75855483 c.1613G>A p.R538Q missense 0.00001648
132. 75855490 c.1620T>G p.D540E missense 0.00000824
133. 75855491 c.1621C>G p.L541V missense 0.00009066
134. 75855495 c.1625T>C p.L542P missense 0.00000824
135. 75855497 c.1627G>A p.A543T missense 0.00003297
136. 75855497 c.1627G>T p.A543S missense 0.00000824
137. 75855509 c.1639C>T p.R547X nonsense 0.00000824
138. 75855510 c.1640G>A p.R547Q missense 0.00000824
139. 75855560 c.1690G>T p.G564W missense 0.00000825
140. 75855583 c.1713delA p.A573Hfs*8 frameshift 0.00002478
141. 75855588 c.1718C>G p.A573G missense 0.00000827
142. 75855591 c.1721C>T p.S574F missense 0.00009094
143. 75856974 c.1756C>T p.R586W missense 0.00007416
144. 75856975 c.1757G>A p.R586Q missense 0.00001648
145. 75856983 c.1765G>A p.E589K missense 0.00000824
146. 75857011 c.1793T>C p.V598A missense 0.00000824
147. 75857025 c.1807A>T p.T603S missense 0.00000824
148. 75857025 c.1807A>C p.T603P missense 0.00000824
149. 75857025 c.1807A>G p.T603A missense 0.00000824
150. 75857034 c.1816A>G p.I606V missense 0.00000824
151. 75857059 c.1841C>T p.T614M missense 0.00000826
152. 75857062 c.1844C>T p.A615V missense 0.00002475
153. 75857074 c.1856C>T p.A619V missense 0.00002477
154. 75857079 c.1861A>G p.N621D missense 0.00000826
155. 75857081 c.1863C>G p.N621K missense 0.00000826
156. 75857083 c.1865G>A p.R622K missense 0.00000826
157. 75857089 c.1871A>T p.E624V missense 0.00000827
158. 75860721 c.1888G>A p.A630T missense 0.00000828
159. 75860734 c.1901A>C p.E634A missense 0.00000828
160. 75860748 c.1915A>C p.K639Q missense 0.00000830
161. 75860754 c.1921G>A p.G641S missense 0.00000831
162. 75860761 c.1928C>T p.T643M missense 0.00004994
163. 75860766 c.1933G>A p.E645K missense 0.00000834
164. 75860770 c.1937A>C p.K646T missense 0.00000836
165. 75860773 c.1940C>T p.A647V missense 0.00005027
166. 75860784 c.1951G>A p.G651S missense 0.00005887
167. 75860802 c.1969A>G p.T657A missense 0.00002544
168. 75860803 c.1970C>T p.T657I missense 0.00000850
169. 75860826 c.1993G>C p.V665L missense 0.00000870
170. 75860838 c.2005C>T p.R669X nonsense 0.00000892
171. 75860839 c.2006G>T p.R669L missense 0.00005356
172. 75860839 c.2006G>A p.R669Q missense 0.00000893
173. 75863585 c.2030C>T p.S677L missense 0.00004119
174. 75863590 c.2035G>T p.A679S missense 0.00000824
175. 75863593 c.2038C>T p.R680C missense 0.00000824
176. 75863601 c.2046A>T p.L682F missense 0.00006589
177. 75863649 c.2094G>A p.M698I missense 0.00000824
178. 75863657 c.2102A>C p.Q701P missense 0.00001647
179. 75864818 c.2141A>G p.D714G missense 0.00000839
180. 75864859 c.2182G>A p.E728K missense 0.00001655
181. 75864883 c.2206A>G p.K736E missense 0.00000825
182. 75864896 c.2219C>T p.A740V missense 0.00000825
183. 75864914 c.2237C>A p.P746H missense 0.00000825
184. 75864918 c.2241G>C p.Q747H missense 0.00000825
185. 75864945 c.2268T>G p.I756M missense 0.00000824
186. 75864950 c.2273G>C p.R758P missense 0.00000824
187. 75864950 c.2273G>A p.R758H missense 0.00009067
188. 75864952 c.2275C>T p.R759W missense 0.00001649
189. 75864962 c.2285G>A p.R762Q missense 0.00000824
190. 75864982 c.2305A>G p.R769G missense 0.00000824
191. 75865015 c.2338C>T p.R780C missense 0.00000824
192. 75865030 c.2353G>A p.A785T missense 0.00000824
193. 75865042 c.2365G>A p.E789K missense 0.00000825
194. 75865048 c.2371A>C p.S791R missense 0.00000825
195. 75865055 c.2378C>A p.T793N missense 0.00003299
196. 75865063 c.2386C>T p.P796S missense 0.00000825
197. 75865066 c.2389A>G p.M797V missense 0.00002478
198. 75865070 c.2393T>C p.V798A missense 0.00000826
199. 75865072 c.2395A>G p.M799V missense 0.00000826
200. 75865073 c.2396T>C p.M799T missense 0.00000826
201. 75865078 c.2401G>A p.A801T missense 0.00003306
202. 75865084 c.2407G>A p.A803T missense 0.00000827
203. 75865084 c.2407G>C p.A803P missense 0.00000827
204. 75865091 c.2414C>T p.A805V missense 0.00000827
205. 75865105 c.2428G>A p.D810N missense 0.00001657
206. 75865109 c.2432C>G p.P811R missense 0.00000829
207. 75866991 c.2438T>C p.L813P missense 0.00001648
208. 75866997 c.2444A>G p.K815R missense 0.00001648
209. 75866998 c.2445G>C p.K815N missense 0.00000824
210. 75867017 c.2464T>C p.Y822H missense 0.00000824
211. 75867020 c.2467C>T p.R823W missense 0.00000824
212. 75867021 c.2468G>A p.R823Q missense 0.00002472
213. 75867054 c.2501C>G p.A834G missense 0.00000824
214. 75867068 c.2515G>A p.E839K missense 0.00002474
215. 75867081 c.2528C>T p.P843L missense 0.00001650
216. 75867084 c.2531C>T p.P844L missense 0.00007427
217. 75867092 c.2539C>T p.P847S missense 0.00000826
218. 75867110 c.2557C>G p.R853G missense 0.00000826
219. 75868729 c.2560C>A p.L854I missense 0.00000825
220. 75868745 c.2576C>T p.A859V missense 0.00000824
221. 75868748 c.2579C>T p.P860L missense 0.00000824
222. 75868784 c.2615C>T p.P872L missense 0.00000824
223. 75868799 c.2630C>T p.P877L missense 0.00002472
224. 75868866 c.2697G>T p.M899I missense 0.00000825
225. 75868888 c.2719G>T p.D907Y missense 0.00000826
226. 75868897 c.2728C>G p.R910G missense 0.00000826
227. 75871667 c.2746C>T p.P916S missense 0.00002489
228. 75871682 c.2761G>A p.A921T missense 0.00000826
229. 75871695 c.2774_2779delTAGGTG p.Gly926_Val927del inframe 0.00004124
230. 75871707 c.2786C>T p.A929V missense 0.00000825
231. 75871719 c.2798C>T p.A933V missense 0.00003298
232. 75871721 c.2800G>A p.A934T missense 0.00000824
233. 75871724 c.2803G>A p.D935N missense 0.00001648
234. 75871728 c.2807C>T p.A936V missense 0.00001648
235. 75871746 c.2825C>A p.P942H missense 0.00000824
236. 75871748 c.2827C>A p.P943T missense 0.00001648
237. 75871749 c.2828_2829delCT p.Pro943ArgfsTer9 frameshift 0.00004119
238. 75871754 c.2833A>G p.M945V missense 0.00000824
239. 75871772 c.2851C>T p.P951S missense 0.00001648
240. 75871773 c.2852C>G p.P951R missense 0.00000824
241. 75871776 c.2855A>G p.E952G missense 0.00000824
242. 75871784 c.2863T>A p.L955I missense 0.00001648
243. 75871787 c.2866A>C p.M956L missense 0.00000824
244. 75871788 c.2867T>G p.M956R missense 0.00003295
245. 75871796 c.2875A>C p.N959H missense 0.00000824
246. 75871796 c.2875A>G p.N959D missense 0.00000824
247. 75871797 c.2876A>G p.N959S missense 0.00000824
248. 75871803 c.2882C>A p.P961Q missense 0.00002471
249. 75871803 c.2882C>T p.P961L missense 0.00000824
250. 75871814 c.2893C>T p.P965S missense 0.00001648
251. 75871826 c.2905G>A p.A969T missense 0.00001648
252. 75871827 c.2906C>T p.A969V missense 0.00002472
253. 75871827 c.2906C>A p.A969E missense 0.00000824
254. 75871829 c.2908G>C p.A970P missense 0.00000824
255. 75871830 c.2909C>G p.A970G missense 0.00000824
256. 75871835 c.2914T>A p.S972T missense 0.00000824
257. 75871845 c.2924G>A p.R975Q missense 0.00005768
258. 75871845 c.2924G>T p.R975L missense 0.00000824
259. 75873967 c.2975A>G p.K992R missense 0.00000825
260. 75873999 c.3007C>T p.R1003W missense 0.00000824
261. 75874018 c.3026G>T p.S1009I missense 0.00000825
262. 75874043 c.3051G>C p.Q1017H missense 0.00001649
263. 75874043 c.3051G>T p.Q1017H missense 0.00000825
264. 75874059 c.3067G>A p.A1023T missense 0.00000825
265. 75874083 c.3091C>T p.R1031W missense 0.00000826
266. 75874106 c.3114G>C p.K1038N missense 0.00000827
267. 75874625 c.3226C>T p.R1076W missense 0.00001529
268. 75874626 c.3227G>A p.R1076Q missense 0.00006212
269. 75874643 c.3244_3246delGAG p.Glu1082del inframe 0.00001808
270. 75877789 c.3267G>C p.E1089D missense 0.00002472
271. 75877827 c.3305T>C p.V1102A missense 0.00000824
272. 75877841 c.3319C>T p.R1107W missense 0.00000824
273. 75877862 c.3340A>G p.I1114V missense 0.00000824
274. 75877895 c.3373C>T p.R1125C missense 0.00002473

* 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.