VCL non-truncating variants in ExAC


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