VCL missense variants in ExAC

VCL gene summary
VCL variants in DCM

The table below lists the VCL missense variants found in the ExAC population database. 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. 75871722 c.2801C>T p.A934V missense 0.01213420●●●●●●
2. 75860740 c.1907A>G p.H636R missense 0.00149155●●●●●●
3. 75867074 c.2521G>C p.D841H missense 0.00099002●●●●●●
4. 75849088 c.1157A>G p.K386R missense 0.00075891●●●●●●
5. 75855425 c.1555A>C p.I519L missense 0.00071702●●●●●●
6. 75830746 c.404T>C p.I135T missense 0.00057810●●●●●●
7. 75860806 c.1973T>C p.V658A missense 0.00046783●●●●●●
8. 75855445 c.1575A>C p.E525D missense 0.00045320●●●●●●
9. 75873961 c.2969C>T p.A990V missense 0.00041266●●●●●●
10. 75849841 c.1237G>A p.A413T missense 0.00023890●●●●●●
11. 75832578 c.590C>T p.T197I missense 0.00023067●●●●●●
12. 75871748 c.2827C>G p.P943A missense 0.00018125●●●●●●
13. 75867025 c.2472C>G p.I824M missense 0.00014835●●●●●●
14. 75849898 c.1294C>G p.L432V missense 0.00014827●●●●●●
15. 75871844 c.2923C>T p.R975W missense 0.00013183●●●●●●
16. 75855477 c.1607C>A p.P536H missense 0.00012361●●●●●●
17. 75849901 c.1297C>T p.R433C missense 0.00009885●●●●●●
18. 75848981 c.1050G>A p.M350I missense 0.00009152●●●●●●
19. 75855591 c.1721C>T p.S574F missense 0.00009094●●●●●●
20. 75864950 c.2273G>A p.R758H missense 0.00009067●●●●●●
21. 75855491 c.1621C>G p.L541V missense 0.00009066●●●●●●
22. 75854181 c.1505G>A p.R502Q missense 0.00008514●●●●●●
23. 75854079 c.1403C>T p.T468M missense 0.00008265●●●●●●
24. 75757997 c.32G>A p.S11N missense 0.00008135●●●●●●
25. 75867084 c.2531C>T p.P844L missense 0.00007427●●●●●●
26. 75856974 c.1756C>T p.R586W missense 0.00007416●●●●●●
27. 75849796 c.1192C>T p.P398S missense 0.00007416●●●●●●
28. 75842215 c.787A>T p.T263S missense 0.00006613●●●●●●
29. 75854066 c.1390A>G p.K464E missense 0.00006611●●●●●●
30. 75834566 c.688C>T p.R230C missense 0.00006598●●●●●●
31. 75863601 c.2046A>T p.L682F missense 0.00006589●●●●●●
32. 75758123 c.158A>G p.N53S missense 0.00006433●●●●●●
33. 75874626 c.3227G>A p.R1076Q missense 0.00006212●●●●●●
34. 75854187 c.1511T>C p.I504T missense 0.00006017●●●●●●
35. 75860784 c.1951G>A p.G651S missense 0.00005887●●●●●●
36. 75849799 c.1195A>C p.N399H missense 0.00005768●●●●●●
37. 75871845 c.2924G>A p.R975Q missense 0.00005768●●●●●●
38. 75860839 c.2006G>T p.R669L missense 0.00005356●●●●●●
39. 75860773 c.1940C>T p.A647V missense 0.00005027●●●●●●
40. 75860761 c.1928C>T p.T643M missense 0.00004994●●●●●●
41. 75758095 c.130G>A p.V44M missense 0.00004500●●●●●●
42. 75854166 c.1490T>C p.I497T missense 0.00004192●●●●●●
43. 75843268 c.1019C>T p.A340V missense 0.00004192●●●●●●
44. 75848971 c.1040C>T p.P347L missense 0.00004169●●●●●●
45. 75854052 c.1376C>G p.A459G missense 0.00004131●●●●●●
46. 75842257 c.829C>A p.L277M missense 0.00004126●●●●●●
47. 75849064 c.1133C>T p.T378I missense 0.00004125●●●●●●
48. 75855476 c.1606C>A p.P536T missense 0.00004120●●●●●●
49. 75832553 c.565G>T p.V189L missense 0.00004119●●●●●●
50. 75863585 c.2030C>T p.S677L missense 0.00004119●●●●●●
51. 75854211 c.1535G>A p.R512H missense 0.00003732●●●●●●
52. 75854210 c.1534C>T p.R512C missense 0.00003697●●●●●●
53. 75848962 c.1031G>C p.G344A missense 0.00003338●●●●●●
54. 75865078 c.2401G>A p.A801T missense 0.00003306●●●●●●
55. 75865055 c.2378C>A p.T793N missense 0.00003299●●●●●●
56. 75871719 c.2798C>T p.A933V missense 0.00003298●●●●●●
57. 75855497 c.1627G>A p.A543T missense 0.00003297●●●●●●
58. 75849802 c.1198G>T p.G400C missense 0.00003296●●●●●●
59. 75871788 c.2867T>G p.M956R missense 0.00003295●●●●●●
60. 75860802 c.1969A>G p.T657A missense 0.00002544●●●●●●
61. 75843264 c.1015C>T p.R339C missense 0.00002508●●●●●●
62. 75834503 c.625A>T p.M209L missense 0.00002506●●●●●●
63. 75843255 c.1006G>A p.A336T missense 0.00002493●●●●●●
64. 75871667 c.2746C>T p.P916S missense 0.00002489●●●●●●
65. 75854109 c.1433A>G p.N478S missense 0.00002483●●●●●●
66. 75842216 c.788C>G p.T263S missense 0.00002480●●●●●●
67. 75854070 c.1394A>C p.Q465P missense 0.00002480●●●●●●
68. 75865066 c.2389A>G p.M797V missense 0.00002478●●●●●●
69. 75849046 c.1115G>T p.R372L missense 0.00002477●●●●●●
70. 75857074 c.1856C>T p.A619V missense 0.00002477●●●●●●
71. 75842251 c.823T>G p.S275A missense 0.00002475●●●●●●
72. 75857062 c.1844C>T p.A615V missense 0.00002475●●●●●●
73. 75867068 c.2515G>A p.E839K missense 0.00002474●●●●●●
74. 75830814 c.472G>T p.V158F missense 0.00002474●●●●●●
75. 75834567 c.689G>A p.R230H missense 0.00002474●●●●●●
76. 75877895 c.3373C>T p.R1125C missense 0.00002473●●●●●●
77. 75843201 c.952C>T p.R318C missense 0.00002472●●●●●●
78. 75871827 c.2906C>T p.A969V missense 0.00002472●●●●●●
79. 75867021 c.2468G>A p.R823Q missense 0.00002472●●●●●●
80. 75868799 c.2630C>T p.P877L missense 0.00002472●●●●●●
81. 75877789 c.3267G>C p.E1089D missense 0.00002472●●●●●●
82. 75871803 c.2882C>A p.P961Q missense 0.00002471●●●●●●
83. 75849891 c.1287T>A p.D429E missense 0.00002471●●●●●●
84. 75758032 c.67C>A p.L23M missense 0.00002375●●●●●●
85. 75834503 c.625A>G p.M209V missense 0.00001671●●●●●●
86. 75854152 c.1476C>G p.H492Q missense 0.00001668●●●●●●
87. 75848977 c.1046C>T p.A349V missense 0.00001665●●●●●●
88. 75834519 c.641C>T p.T214I missense 0.00001662●●●●●●
89. 75865105 c.2428G>A p.D810N missense 0.00001657●●●●●●
90. 75864859 c.2182G>A p.E728K missense 0.00001655●●●●●●
91. 75854100 c.1424C>A p.T475N missense 0.00001654●●●●●●
92. 75854078 c.1402A>G p.T468A missense 0.00001653●●●●●●
93. 75849045 c.1114C>T p.R372C missense 0.00001652●●●●●●
94. 75802910 c.238A>C p.K80Q missense 0.00001651●●●●●●
95. 75842281 c.853C>T p.R285C missense 0.00001651●●●●●●
96. 75842234 c.806C>G p.A269G missense 0.00001651●●●●●●
97. 75867081 c.2528C>T p.P843L missense 0.00001650●●●●●●
98. 75802896 c.224C>T p.P75L missense 0.00001650●●●●●●
99. 75874043 c.3051G>C p.Q1017H missense 0.00001649●●●●●●
100. 75864952 c.2275C>T p.R759W missense 0.00001649●●●●●●
101. 75871728 c.2807C>T p.A936V missense 0.00001648●●●●●●
102. 75866997 c.2444A>G p.K815R missense 0.00001648●●●●●●
103. 75849851 c.1247G>A p.R416Q missense 0.00001648●●●●●●
104. 75832499 c.511A>G p.M171V missense 0.00001648●●●●●●
105. 75871814 c.2893C>T p.P965S missense 0.00001648●●●●●●
106. 75871748 c.2827C>A p.P943T missense 0.00001648●●●●●●
107. 75856975 c.1757G>A p.R586Q missense 0.00001648●●●●●●
108. 75866991 c.2438T>C p.L813P missense 0.00001648●●●●●●
109. 75855453 c.1583G>A p.R528H missense 0.00001648●●●●●●
110. 75871784 c.2863T>A p.L955I missense 0.00001648●●●●●●
111. 75871826 c.2905G>A p.A969T missense 0.00001648●●●●●●
112. 75843190 c.941C>A p.A314E missense 0.00001648●●●●●●
113. 75832551 c.563G>A p.R188Q missense 0.00001648●●●●●●
114. 75871724 c.2803G>A p.D935N missense 0.00001648●●●●●●
115. 75871772 c.2851C>T p.P951S missense 0.00001648●●●●●●
116. 75849850 c.1246C>T p.R416W missense 0.00001648●●●●●●
117. 75855483 c.1613G>A p.R538Q missense 0.00001648●●●●●●
118. 75863657 c.2102A>C p.Q701P missense 0.00001647●●●●●●
119. 75830470 c.282G>A p.M94I missense 0.00001647●●●●●●
120. 75849872 c.1268A>G p.D423G missense 0.00001647●●●●●●
121. 75874625 c.3226C>T p.R1076W missense 0.00001529●●●●●●
122. 75757999 c.34A>G p.I12V missense 0.00001016●●●●●●
123. 75757985 c.20G>T p.R7L missense 0.00001007●●●●●●
124. 75854211 c.1535G>T p.R512L missense 0.00000933●●●●●●
125. 75860839 c.2006G>A p.R669Q missense 0.00000893●●●●●●
126. 75860826 c.1993G>C p.V665L missense 0.00000870●●●●●●
127. 75854180 c.1504C>T p.R502W missense 0.00000851●●●●●●
128. 75860803 c.1970C>T p.T657I missense 0.00000850●●●●●●
129. 75854178 c.1502A>G p.Q501R missense 0.00000849●●●●●●
130. 75864818 c.2141A>G p.D714G missense 0.00000839●●●●●●
131. 75860770 c.1937A>C p.K646T missense 0.00000836●●●●●●
132. 75848961 c.1030G>A p.G344R missense 0.00000835●●●●●●
133. 75848970 c.1039C>T p.P347S missense 0.00000834●●●●●●
134. 75860766 c.1933G>A p.E645K missense 0.00000834●●●●●●
135. 75848976 c.1045G>A p.A349T missense 0.00000833●●●●●●
136. 75848980 c.1049T>C p.M350T missense 0.00000832●●●●●●
137. 75834513 c.635T>C p.F212S missense 0.00000832●●●●●●
138. 75860754 c.1921G>A p.G641S missense 0.00000831●●●●●●
139. 75843256 c.1007C>T p.A336V missense 0.00000831●●●●●●
140. 75860748 c.1915A>C p.K639Q missense 0.00000830●●●●●●
141. 75865109 c.2432C>G p.P811R missense 0.00000829●●●●●●
142. 75860721 c.1888G>A p.A630T missense 0.00000828●●●●●●
143. 75854111 c.1435C>T p.R479W missense 0.00000828●●●●●●
144. 75860734 c.1901A>C p.E634A missense 0.00000828●●●●●●
145. 75865084 c.2407G>A p.A803T missense 0.00000827●●●●●●
146. 75802857 c.185T>C p.V62A missense 0.00000827●●●●●●
147. 75802856 c.184G>A p.V62I missense 0.00000827●●●●●●
148. 75857089 c.1871A>T p.E624V missense 0.00000827●●●●●●
149. 75865084 c.2407G>C p.A803P missense 0.00000827●●●●●●
150. 75874106 c.3114G>C p.K1038N missense 0.00000827●●●●●●
151. 75865091 c.2414C>T p.A805V missense 0.00000827●●●●●●
152. 75854103 c.1427A>G p.K476R missense 0.00000827●●●●●●
153. 75855588 c.1718C>G p.A573G missense 0.00000827●●●●●●
154. 75871682 c.2761G>A p.A921T missense 0.00000826●●●●●●
155. 75857083 c.1865G>A p.R622K missense 0.00000826●●●●●●
156. 75874083 c.3091C>T p.R1031W missense 0.00000826●●●●●●
157. 75854031 c.1355G>T p.G452V missense 0.00000826●●●●●●
158. 75842291 c.863G>C p.S288T missense 0.00000826●●●●●●
159. 75857079 c.1861A>G p.N621D missense 0.00000826●●●●●●
160. 75857059 c.1841C>T p.T614M missense 0.00000826●●●●●●
161. 75865070 c.2393T>C p.V798A missense 0.00000826●●●●●●
162. 75867092 c.2539C>T p.P847S missense 0.00000826●●●●●●
163. 75868888 c.2719G>T p.D907Y missense 0.00000826●●●●●●
164. 75802869 c.197A>G p.E66G missense 0.00000826●●●●●●
165. 75865073 c.2396T>C p.M799T missense 0.00000826●●●●●●
166. 75868897 c.2728C>G p.R910G missense 0.00000826●●●●●●
167. 75867110 c.2557C>G p.R853G missense 0.00000826●●●●●●
168. 75857081 c.1863C>G p.N621K missense 0.00000826●●●●●●
169. 75865072 c.2395A>G p.M799V missense 0.00000826●●●●●●
170. 75871707 c.2786C>T p.A929V missense 0.00000825●●●●●●
171. 75830754 c.412T>G p.C138G missense 0.00000825●●●●●●
172. 75868729 c.2560C>A p.L854I missense 0.00000825●●●●●●
173. 75868866 c.2697G>T p.M899I missense 0.00000825●●●●●●
174. 75865048 c.2371A>C p.S791R missense 0.00000825●●●●●●
175. 75864883 c.2206A>G p.K736E missense 0.00000825●●●●●●
176. 75842240 c.812C>T p.A271V missense 0.00000825●●●●●●
177. 75830824 c.482C>T p.T161I missense 0.00000825●●●●●●
178. 75842255 c.827A>G p.K276R missense 0.00000825●●●●●●
179. 75873967 c.2975A>G p.K992R missense 0.00000825●●●●●●
180. 75849052 c.1121T>C p.L374P missense 0.00000825●●●●●●
181. 75874043 c.3051G>T p.Q1017H missense 0.00000825●●●●●●
182. 75842245 c.817A>C p.I273L missense 0.00000825●●●●●●
183. 75865063 c.2386C>T p.P796S missense 0.00000825●●●●●●
184. 75864896 c.2219C>T p.A740V missense 0.00000825●●●●●●
185. 75802891 c.219T>A p.D73E missense 0.00000825●●●●●●
186. 75874059 c.3067G>A p.A1023T missense 0.00000825●●●●●●
187. 75842272 c.844G>T p.G282C missense 0.00000825●●●●●●
188. 75842246 c.818T>C p.I273T missense 0.00000825●●●●●●
189. 75864918 c.2241G>C p.Q747H missense 0.00000825●●●●●●
190. 75855560 c.1690G>T p.G564W missense 0.00000825●●●●●●
191. 75865042 c.2365G>A p.E789K missense 0.00000825●●●●●●
192. 75874018 c.3026G>T p.S1009I missense 0.00000825●●●●●●
193. 75864914 c.2237C>A p.P746H missense 0.00000825●●●●●●
194. 75842237 c.809T>C p.L270S missense 0.00000825●●●●●●
195. 75849913 c.1309G>A p.E437K missense 0.00000824●●●●●●
196. 75832580 c.592G>A p.V198M missense 0.00000824●●●●●●
197. 75832553 c.565G>C p.V189L missense 0.00000824●●●●●●
198. 75849799 c.1195A>G p.N399D missense 0.00000824●●●●●●
199. 75871845 c.2924G>T p.R975L missense 0.00000824●●●●●●
200. 75871830 c.2909C>G p.A970G missense 0.00000824●●●●●●
201. 75864962 c.2285G>A p.R762Q missense 0.00000824●●●●●●
202. 75855429 c.1559G>T p.R520L missense 0.00000824●●●●●●
203. 75871776 c.2855A>G p.E952G missense 0.00000824●●●●●●
204. 75834597 c.719A>C p.E240A missense 0.00000824●●●●●●
205. 75849896 c.1292T>G p.I431S missense 0.00000824●●●●●●
206. 75867020 c.2467C>T p.R823W missense 0.00000824●●●●●●
207. 75857025 c.1807A>C p.T603P missense 0.00000824●●●●●●
208. 75855497 c.1627G>T p.A543S missense 0.00000824●●●●●●
209. 75855476 c.1606C>T p.P536S missense 0.00000824●●●●●●
210. 75843177 c.928G>A p.G310S missense 0.00000824●●●●●●
211. 75832515 c.527A>G p.D176G missense 0.00000824●●●●●●
212. 75849857 c.1253T>C p.I418T missense 0.00000824●●●●●●
213. 75864945 c.2268T>G p.I756M missense 0.00000824●●●●●●
214. 75849916 c.1312A>T p.I438L missense 0.00000824●●●●●●
215. 75871746 c.2825C>A p.P942H missense 0.00000824●●●●●●
216. 75868745 c.2576C>T p.A859V missense 0.00000824●●●●●●
217. 75849809 c.1205C>T p.P402L missense 0.00000824●●●●●●
218. 75830797 c.455A>G p.E152G missense 0.00000824●●●●●●
219. 75830460 c.272C>A p.A91E missense 0.00000824●●●●●●
220. 75856983 c.1765G>A p.E589K missense 0.00000824●●●●●●
221. 75877827 c.3305T>C p.V1102A missense 0.00000824●●●●●●
222. 75871835 c.2914T>A p.S972T missense 0.00000824●●●●●●
223. 75865015 c.2338C>T p.R780C missense 0.00000824●●●●●●
224. 75843124 c.875G>A p.G292E missense 0.00000824●●●●●●
225. 75855490 c.1620T>G p.D540E missense 0.00000824●●●●●●
226. 75871796 c.2875A>G p.N959D missense 0.00000824●●●●●●
227. 75863649 c.2094G>A p.M698I missense 0.00000824●●●●●●
228. 75834624 c.746A>G p.Q249R missense 0.00000824●●●●●●
229. 75834579 c.701T>C p.V234A missense 0.00000824●●●●●●
230. 75843196 c.947A>C p.K316T missense 0.00000824●●●●●●
231. 75849902 c.1298G>A p.R433H missense 0.00000824●●●●●●
232. 75832573 c.585G>A p.M195I missense 0.00000824●●●●●●
233. 75849862 c.1258G>A p.E420K missense 0.00000824●●●●●●
234. 75832536 c.548C>T p.T183I missense 0.00000824●●●●●●
235. 75863590 c.2035G>T p.A679S missense 0.00000824●●●●●●
236. 75871721 c.2800G>A p.A934T missense 0.00000824●●●●●●
237. 75855510 c.1640G>A p.R547Q missense 0.00000824●●●●●●
238. 75843217 c.968G>A p.G323E missense 0.00000824●●●●●●
239. 75855495 c.1625T>C p.L542P missense 0.00000824●●●●●●
240. 75871827 c.2906C>A p.A969E missense 0.00000824●●●●●●
241. 75849938 c.1334T>C p.L445S missense 0.00000824●●●●●●
242. 75871773 c.2852C>G p.P951R missense 0.00000824●●●●●●
243. 75871754 c.2833A>G p.M945V missense 0.00000824●●●●●●
244. 75868748 c.2579C>T p.P860L missense 0.00000824●●●●●●
245. 75849829 c.1225C>G p.R409G missense 0.00000824●●●●●●
246. 75832492 c.504G>A p.M168I missense 0.00000824●●●●●●
247. 75866998 c.2445G>C p.K815N missense 0.00000824●●●●●●
248. 75857025 c.1807A>G p.T603A missense 0.00000824●●●●●●
249. 75857011 c.1793T>C p.V598A missense 0.00000824●●●●●●
250. 75877841 c.3319C>T p.R1107W missense 0.00000824●●●●●●
251. 75855467 c.1597A>G p.M533V missense 0.00000824●●●●●●
252. 75843137 c.888G>T p.E296D missense 0.00000824●●●●●●
253. 75873999 c.3007C>T p.R1003W missense 0.00000824●●●●●●
254. 75865030 c.2353G>A p.A785T missense 0.00000824●●●●●●
255. 75834582 c.704A>G p.E235G missense 0.00000824●●●●●●
256. 75871796 c.2875A>C p.N959H missense 0.00000824●●●●●●
257. 75871797 c.2876A>G p.N959S missense 0.00000824●●●●●●
258. 75871787 c.2866A>C p.M956L missense 0.00000824●●●●●●
259. 75849905 c.1301C>A p.S434Y missense 0.00000824●●●●●●
260. 75832580 c.592G>T p.V198L missense 0.00000824●●●●●●
261. 75864950 c.2273G>C p.R758P missense 0.00000824●●●●●●
262. 75867054 c.2501C>G p.A834G missense 0.00000824●●●●●●
263. 75843198 c.949G>C p.E317Q missense 0.00000824●●●●●●
264. 75871829 c.2908G>C p.A970P missense 0.00000824●●●●●●
265. 75849950 c.1346G>T p.R449L missense 0.00000824●●●●●●
266. 75863593 c.2038C>T p.R680C missense 0.00000824●●●●●●
267. 75868784 c.2615C>T p.P872L missense 0.00000824●●●●●●
268. 75832496 c.508A>G p.K170E missense 0.00000824●●●●●●
269. 75877862 c.3340A>G p.I1114V missense 0.00000824●●●●●●
270. 75867017 c.2464T>C p.Y822H missense 0.00000824●●●●●●
271. 75857034 c.1816A>G p.I606V missense 0.00000824●●●●●●
272. 75857025 c.1807A>T p.T603S missense 0.00000824●●●●●●
273. 75855469 c.1599G>C p.M533I missense 0.00000824●●●●●●
274. 75843172 c.923A>T p.K308I missense 0.00000824●●●●●●
275. 75864982 c.2305A>G p.R769G missense 0.00000824●●●●●●
276. 75871803 c.2882C>T p.P961L 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.