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