VCL non-truncating variants in ExAC

VCL gene summary
VCL variants in DCM

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 frequency▼Populations*
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. 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. 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. 75830814 c.472G>T p.V158F missense 0.00002474●●●●●●
59. 75834567 c.689G>A p.R230H missense 0.00002474●●●●●●
60. 75867068 c.2515G>A p.E839K missense 0.00002474●●●●●●
61. 75877895 c.3373C>T p.R1125C missense 0.00002473●●●●●●
62. 75867021 c.2468G>A p.R823Q missense 0.00002472●●●●●●
63. 75871827 c.2906C>T p.A969V missense 0.00002472●●●●●●
64. 75877789 c.3267G>C p.E1089D missense 0.00002472●●●●●●
65. 75868799 c.2630C>T p.P877L missense 0.00002472●●●●●●
66. 75843201 c.952C>T p.R318C missense 0.00002472●●●●●●
67. 75871803 c.2882C>A p.P961Q missense 0.00002471●●●●●●
68. 75849891 c.1287T>A p.D429E 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. 75842234 c.806C>G p.A269G missense 0.00001651●●●●●●
81. 75842281 c.853C>T p.R285C missense 0.00001651●●●●●●
82. 75802910 c.238A>C p.K80Q missense 0.00001651●●●●●●
83. 75802896 c.224C>T p.P75L missense 0.00001650●●●●●●
84. 75867081 c.2528C>T p.P843L missense 0.00001650●●●●●●
85. 75864952 c.2275C>T p.R759W missense 0.00001649●●●●●●
86. 75874043 c.3051G>C p.Q1017H missense 0.00001649●●●●●●
87. 75855453 c.1583G>A p.R528H missense 0.00001648●●●●●●
88. 75843190 c.941C>A p.A314E missense 0.00001648●●●●●●
89. 75871784 c.2863T>A p.L955I missense 0.00001648●●●●●●
90. 75866997 c.2444A>G p.K815R missense 0.00001648●●●●●●
91. 75871724 c.2803G>A p.D935N missense 0.00001648●●●●●●
92. 75871772 c.2851C>T p.P951S missense 0.00001648●●●●●●
93. 75832551 c.563G>A p.R188Q missense 0.00001648●●●●●●
94. 75849850 c.1246C>T p.R416W missense 0.00001648●●●●●●
95. 75871728 c.2807C>T p.A936V missense 0.00001648●●●●●●
96. 75855483 c.1613G>A p.R538Q missense 0.00001648●●●●●●
97. 75832499 c.511A>G p.M171V missense 0.00001648●●●●●●
98. 75871814 c.2893C>T p.P965S missense 0.00001648●●●●●●
99. 75871748 c.2827C>A p.P943T missense 0.00001648●●●●●●
100. 75871826 c.2905G>A p.A969T missense 0.00001648●●●●●●
101. 75849851 c.1247G>A p.R416Q missense 0.00001648●●●●●●
102. 75866991 c.2438T>C p.L813P missense 0.00001648●●●●●●
103. 75856975 c.1757G>A p.R586Q missense 0.00001648●●●●●●
104. 75863657 c.2102A>C p.Q701P missense 0.00001647●●●●●●
105. 75830470 c.282G>A p.M94I missense 0.00001647●●●●●●
106. 75849872 c.1268A>G p.D423G 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. 75854111 c.1435C>T p.R479W missense 0.00000828●●●●●●
129. 75860721 c.1888G>A p.A630T missense 0.00000828●●●●●●
130. 75860734 c.1901A>C p.E634A missense 0.00000828●●●●●●
131. 75874106 c.3114G>C p.K1038N missense 0.00000827●●●●●●
132. 75865084 c.2407G>C p.A803P missense 0.00000827●●●●●●
133. 75854103 c.1427A>G p.K476R missense 0.00000827●●●●●●
134. 75855588 c.1718C>G p.A573G missense 0.00000827●●●●●●
135. 75865091 c.2414C>T p.A805V missense 0.00000827●●●●●●
136. 75865084 c.2407G>A p.A803T missense 0.00000827●●●●●●
137. 75802857 c.185T>C p.V62A missense 0.00000827●●●●●●
138. 75802856 c.184G>A p.V62I missense 0.00000827●●●●●●
139. 75857089 c.1871A>T p.E624V missense 0.00000827●●●●●●
140. 75868888 c.2719G>T p.D907Y missense 0.00000826●●●●●●
141. 75802869 c.197A>G p.E66G missense 0.00000826●●●●●●
142. 75865073 c.2396T>C p.M799T missense 0.00000826●●●●●●
143. 75857079 c.1861A>G p.N621D missense 0.00000826●●●●●●
144. 75867110 c.2557C>G p.R853G missense 0.00000826●●●●●●
145. 75857081 c.1863C>G p.N621K missense 0.00000826●●●●●●
146. 75842291 c.863G>C p.S288T missense 0.00000826●●●●●●
147. 75867092 c.2539C>T p.P847S missense 0.00000826●●●●●●
148. 75857083 c.1865G>A p.R622K missense 0.00000826●●●●●●
149. 75865072 c.2395A>G p.M799V missense 0.00000826●●●●●●
150. 75871682 c.2761G>A p.A921T missense 0.00000826●●●●●●
151. 75857059 c.1841C>T p.T614M missense 0.00000826●●●●●●
152. 75874083 c.3091C>T p.R1031W missense 0.00000826●●●●●●
153. 75865070 c.2393T>C p.V798A missense 0.00000826●●●●●●
154. 75854031 c.1355G>T p.G452V missense 0.00000826●●●●●●
155. 75868897 c.2728C>G p.R910G missense 0.00000826●●●●●●
156. 75873967 c.2975A>G p.K992R missense 0.00000825●●●●●●
157. 75864918 c.2241G>C p.Q747H missense 0.00000825●●●●●●
158. 75864883 c.2206A>G p.K736E missense 0.00000825●●●●●●
159. 75855560 c.1690G>T p.G564W missense 0.00000825●●●●●●
160. 75849052 c.1121T>C p.L374P missense 0.00000825●●●●●●
161. 75874043 c.3051G>T p.Q1017H missense 0.00000825●●●●●●
162. 75842245 c.817A>C p.I273L missense 0.00000825●●●●●●
163. 75842255 c.827A>G p.K276R missense 0.00000825●●●●●●
164. 75871707 c.2786C>T p.A929V missense 0.00000825●●●●●●
165. 75865063 c.2386C>T p.P796S missense 0.00000825●●●●●●
166. 75864896 c.2219C>T p.A740V missense 0.00000825●●●●●●
167. 75802891 c.219T>A p.D73E missense 0.00000825●●●●●●
168. 75842272 c.844G>T p.G282C missense 0.00000825●●●●●●
169. 75842246 c.818T>C p.I273T missense 0.00000825●●●●●●
170. 75874059 c.3067G>A p.A1023T missense 0.00000825●●●●●●
171. 75874018 c.3026G>T p.S1009I missense 0.00000825●●●●●●
172. 75864914 c.2237C>A p.P746H missense 0.00000825●●●●●●
173. 75842237 c.809T>C p.L270S missense 0.00000825●●●●●●
174. 75868729 c.2560C>A p.L854I missense 0.00000825●●●●●●
175. 75830754 c.412T>G p.C138G missense 0.00000825●●●●●●
176. 75830824 c.482C>T p.T161I missense 0.00000825●●●●●●
177. 75865042 c.2365G>A p.E789K missense 0.00000825●●●●●●
178. 75868866 c.2697G>T p.M899I missense 0.00000825●●●●●●
179. 75865048 c.2371A>C p.S791R missense 0.00000825●●●●●●
180. 75842240 c.812C>T p.A271V missense 0.00000825●●●●●●
181. 75855476 c.1606C>T p.P536S missense 0.00000824●●●●●●
182. 75865015 c.2338C>T p.R780C missense 0.00000824●●●●●●
183. 75843124 c.875G>A p.G292E missense 0.00000824●●●●●●
184. 75855490 c.1620T>G p.D540E missense 0.00000824●●●●●●
185. 75843196 c.947A>C p.K316T missense 0.00000824●●●●●●
186. 75863649 c.2094G>A p.M698I missense 0.00000824●●●●●●
187. 75834624 c.746A>G p.Q249R missense 0.00000824●●●●●●
188. 75871796 c.2875A>G p.N959D missense 0.00000824●●●●●●
189. 75832536 c.548C>T p.T183I missense 0.00000824●●●●●●
190. 75871721 c.2800G>A p.A934T missense 0.00000824●●●●●●
191. 75849902 c.1298G>A p.R433H missense 0.00000824●●●●●●
192. 75832573 c.585G>A p.M195I missense 0.00000824●●●●●●
193. 75864950 c.2273G>C p.R758P missense 0.00000824●●●●●●
194. 75830460 c.272C>A p.A91E missense 0.00000824●●●●●●
195. 75855510 c.1640G>A p.R547Q missense 0.00000824●●●●●●
196. 75843217 c.968G>A p.G323E missense 0.00000824●●●●●●
197. 75832515 c.527A>G p.D176G missense 0.00000824●●●●●●
198. 75871835 c.2914T>A p.S972T missense 0.00000824●●●●●●
199. 75871827 c.2906C>A p.A969E missense 0.00000824●●●●●●
200. 75871754 c.2833A>G p.M945V missense 0.00000824●●●●●●
201. 75834579 c.701T>C p.V234A missense 0.00000824●●●●●●
202. 75849938 c.1334T>C p.L445S missense 0.00000824●●●●●●
203. 75868748 c.2579C>T p.P860L missense 0.00000824●●●●●●
204. 75849862 c.1258G>A p.E420K missense 0.00000824●●●●●●
205. 75849829 c.1225C>G p.R409G missense 0.00000824●●●●●●
206. 75832492 c.504G>A p.M168I missense 0.00000824●●●●●●
207. 75857011 c.1793T>C p.V598A missense 0.00000824●●●●●●
208. 75877841 c.3319C>T p.R1107W missense 0.00000824●●●●●●
209. 75866998 c.2445G>C p.K815N missense 0.00000824●●●●●●
210. 75857025 c.1807A>G p.T603A missense 0.00000824●●●●●●
211. 75873999 c.3007C>T p.R1003W missense 0.00000824●●●●●●
212. 75855495 c.1625T>C p.L542P missense 0.00000824●●●●●●
213. 75855467 c.1597A>G p.M533V missense 0.00000824●●●●●●
214. 75843137 c.888G>T p.E296D missense 0.00000824●●●●●●
215. 75871797 c.2876A>G p.N959S missense 0.00000824●●●●●●
216. 75849905 c.1301C>A p.S434Y missense 0.00000824●●●●●●
217. 75832580 c.592G>T p.V198L missense 0.00000824●●●●●●
218. 75867054 c.2501C>G p.A834G missense 0.00000824●●●●●●
219. 75865030 c.2353G>A p.A785T missense 0.00000824●●●●●●
220. 75871829 c.2908G>C p.A970P missense 0.00000824●●●●●●
221. 75871746 c.2825C>A p.P942H missense 0.00000824●●●●●●
222. 75871787 c.2866A>C p.M956L missense 0.00000824●●●●●●
223. 75863593 c.2038C>T p.R680C missense 0.00000824●●●●●●
224. 75834582 c.704A>G p.E235G missense 0.00000824●●●●●●
225. 75868784 c.2615C>T p.P872L missense 0.00000824●●●●●●
226. 75832496 c.508A>G p.K170E missense 0.00000824●●●●●●
227. 75856983 c.1765G>A p.E589K missense 0.00000824●●●●●●
228. 75877862 c.3340A>G p.I1114V missense 0.00000824●●●●●●
229. 75867017 c.2464T>C p.Y822H missense 0.00000824●●●●●●
230. 75857034 c.1816A>G p.I606V missense 0.00000824●●●●●●
231. 75849857 c.1253T>C p.I418T missense 0.00000824●●●●●●
232. 75843198 c.949G>C p.E317Q missense 0.00000824●●●●●●
233. 75855469 c.1599G>C p.M533I missense 0.00000824●●●●●●
234. 75843172 c.923A>T p.K308I missense 0.00000824●●●●●●
235. 75864982 c.2305A>G p.R769G missense 0.00000824●●●●●●
236. 75871803 c.2882C>T p.P961L missense 0.00000824●●●●●●
237. 75849913 c.1309G>A p.E437K missense 0.00000824●●●●●●
238. 75832580 c.592G>A p.V198M missense 0.00000824●●●●●●
239. 75863590 c.2035G>T p.A679S missense 0.00000824●●●●●●
240. 75849950 c.1346G>T p.R449L missense 0.00000824●●●●●●
241. 75849799 c.1195A>G p.N399D missense 0.00000824●●●●●●
242. 75857025 c.1807A>T p.T603S missense 0.00000824●●●●●●
243. 75864962 c.2285G>A p.R762Q missense 0.00000824●●●●●●
244. 75855429 c.1559G>T p.R520L missense 0.00000824●●●●●●
245. 75871845 c.2924G>T p.R975L missense 0.00000824●●●●●●
246. 75871773 c.2852C>G p.P951R missense 0.00000824●●●●●●
247. 75871776 c.2855A>G p.E952G missense 0.00000824●●●●●●
248. 75834597 c.719A>C p.E240A missense 0.00000824●●●●●●
249. 75871796 c.2875A>C p.N959H missense 0.00000824●●●●●●
250. 75849896 c.1292T>G p.I431S missense 0.00000824●●●●●●
251. 75832553 c.565G>C p.V189L missense 0.00000824●●●●●●
252. 75849813 c.1209_1211delAGG p.Gly404del inframe 0.00000824●●●●●●
253. 75867020 c.2467C>T p.R823W missense 0.00000824●●●●●●
254. 75843177 c.928G>A p.G310S missense 0.00000824●●●●●●
255. 75855497 c.1627G>T p.A543S missense 0.00000824●●●●●●
256. 75871830 c.2909C>G p.A970G missense 0.00000824●●●●●●
257. 75864945 c.2268T>G p.I756M missense 0.00000824●●●●●●
258. 75849916 c.1312A>T p.I438L missense 0.00000824●●●●●●
259. 75849809 c.1205C>T p.P402L missense 0.00000824●●●●●●
260. 75830797 c.455A>G p.E152G missense 0.00000824●●●●●●
261. 75868745 c.2576C>T p.A859V missense 0.00000824●●●●●●
262. 75877827 c.3305T>C p.V1102A missense 0.00000824●●●●●●
263. 75857025 c.1807A>C p.T603P 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.