VCL protein-altering variants in ExAC

VCL gene summary
VCL variants in DCM

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 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. 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. 75871749 c.2828_2829delCT p.Pro943ArgfsTer9 frameshift 0.00004119●●●●●●
36. 75863585 c.2030C>T p.S677L 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. 75855583 c.1713delA p.A573Hfs*8 frameshift 0.00002478●●●●●●
55. 75865066 c.2389A>G p.M797V missense 0.00002478●●●●●●
56. 75857074 c.1856C>T p.A619V missense 0.00002477●●●●●●
57. 75849046 c.1115G>T p.R372L missense 0.00002477●●●●●●
58. 75842251 c.823T>G p.S275A missense 0.00002475●●●●●●
59. 75857062 c.1844C>T p.A615V 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. 75877789 c.3267G>C p.E1089D missense 0.00002472●●●●●●
65. 75868799 c.2630C>T p.P877L missense 0.00002472●●●●●●
66. 75867021 c.2468G>A p.R823Q missense 0.00002472●●●●●●
67. 75843201 c.952C>T p.R318C missense 0.00002472●●●●●●
68. 75871827 c.2906C>T p.A969V missense 0.00002472●●●●●●
69. 75871803 c.2882C>A p.P961Q missense 0.00002471●●●●●●
70. 75849891 c.1287T>A p.D429E 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. 75842234 c.806C>G p.A269G missense 0.00001651●●●●●●
83. 75842281 c.853C>T p.R285C missense 0.00001651●●●●●●
84. 75802910 c.238A>C p.K80Q missense 0.00001651●●●●●●
85. 75867081 c.2528C>T p.P843L missense 0.00001650●●●●●●
86. 75802896 c.224C>T p.P75L missense 0.00001650●●●●●●
87. 75874043 c.3051G>C p.Q1017H missense 0.00001649●●●●●●
88. 75864952 c.2275C>T p.R759W missense 0.00001649●●●●●●
89. 75856975 c.1757G>A p.R586Q missense 0.00001648●●●●●●
90. 75871814 c.2893C>T p.P965S missense 0.00001648●●●●●●
91. 75871748 c.2827C>A p.P943T missense 0.00001648●●●●●●
92. 75849850 c.1246C>T p.R416W missense 0.00001648●●●●●●
93. 75832499 c.511A>G p.M171V missense 0.00001648●●●●●●
94. 75866991 c.2438T>C p.L813P missense 0.00001648●●●●●●
95. 75871826 c.2905G>A p.A969T missense 0.00001648●●●●●●
96. 75849829 c.1225C>T p.R409X nonsense 0.00001648●●●●●●
97. 75871784 c.2863T>A p.L955I missense 0.00001648●●●●●●
98. 75855483 c.1613G>A p.R538Q missense 0.00001648●●●●●●
99. 75849851 c.1247G>A p.R416Q missense 0.00001648●●●●●●
100. 75866997 c.2444A>G p.K815R missense 0.00001648●●●●●●
101. 75871724 c.2803G>A p.D935N missense 0.00001648●●●●●●
102. 75855453 c.1583G>A p.R528H missense 0.00001648●●●●●●
103. 75871772 c.2851C>T p.P951S missense 0.00001648●●●●●●
104. 75832551 c.563G>A p.R188Q missense 0.00001648●●●●●●
105. 75843190 c.941C>A p.A314E missense 0.00001648●●●●●●
106. 75871728 c.2807C>T p.A936V missense 0.00001648●●●●●●
107. 75849872 c.1268A>G p.D423G missense 0.00001647●●●●●●
108. 75830465 c.277C>T p.Q93X nonsense 0.00001647●●●●●●
109. 75830470 c.282G>A p.M94I missense 0.00001647●●●●●●
110. 75863657 c.2102A>C p.Q701P 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. 75843262 c.1013_1014insCC p.Arg339ProfsTer40 frameshift 0.00000834●●●●●●
126. 75860766 c.1933G>A p.E645K missense 0.00000834●●●●●●
127. 75848970 c.1039C>T p.P347S missense 0.00000834●●●●●●
128. 75848976 c.1045G>A p.A349T missense 0.00000833●●●●●●
129. 75834513 c.635T>C p.F212S missense 0.00000832●●●●●●
130. 75848980 c.1049T>C p.M350T 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. 75860721 c.1888G>A p.A630T missense 0.00000828●●●●●●
136. 75854111 c.1435C>T p.R479W missense 0.00000828●●●●●●
137. 75860734 c.1901A>C p.E634A missense 0.00000828●●●●●●
138. 75834531 c.653_654insA p.N220Kfs*21 frameshift 0.00000828●●●●●●
139. 75857089 c.1871A>T p.E624V missense 0.00000827●●●●●●
140. 75865084 c.2407G>A p.A803T missense 0.00000827●●●●●●
141. 75854103 c.1427A>G p.K476R missense 0.00000827●●●●●●
142. 75865084 c.2407G>C p.A803P missense 0.00000827●●●●●●
143. 75874106 c.3114G>C p.K1038N missense 0.00000827●●●●●●
144. 75855588 c.1718C>G p.A573G missense 0.00000827●●●●●●
145. 75802857 c.185T>C p.V62A missense 0.00000827●●●●●●
146. 75865091 c.2414C>T p.A805V missense 0.00000827●●●●●●
147. 75802856 c.184G>A p.V62I missense 0.00000827●●●●●●
148. 75802869 c.197A>G p.E66G missense 0.00000826●●●●●●
149. 75868897 c.2728C>G p.R910G missense 0.00000826●●●●●●
150. 75871682 c.2761G>A p.A921T missense 0.00000826●●●●●●
151. 75874083 c.3091C>T p.R1031W missense 0.00000826●●●●●●
152. 75865070 c.2393T>C p.V798A missense 0.00000826●●●●●●
153. 75868888 c.2719G>T p.D907Y missense 0.00000826●●●●●●
154. 75857081 c.1863C>G p.N621K missense 0.00000826●●●●●●
155. 75865073 c.2396T>C p.M799T missense 0.00000826●●●●●●
156. 75842291 c.863G>C p.S288T missense 0.00000826●●●●●●
157. 75854031 c.1355G>T p.G452V missense 0.00000826●●●●●●
158. 75857079 c.1861A>G p.N621D missense 0.00000826●●●●●●
159. 75865072 c.2395A>G p.M799V missense 0.00000826●●●●●●
160. 75867110 c.2557C>G p.R853G missense 0.00000826●●●●●●
161. 75857083 c.1865G>A p.R622K missense 0.00000826●●●●●●
162. 75867092 c.2539C>T p.P847S missense 0.00000826●●●●●●
163. 75857059 c.1841C>T p.T614M missense 0.00000826●●●●●●
164. 75868729 c.2560C>A p.L854I missense 0.00000825●●●●●●
165. 75830754 c.412T>G p.C138G missense 0.00000825●●●●●●
166. 75842272 c.844G>T p.G282C missense 0.00000825●●●●●●
167. 75865042 c.2365G>A p.E789K missense 0.00000825●●●●●●
168. 75868866 c.2697G>T p.M899I missense 0.00000825●●●●●●
169. 75842246 c.818T>C p.I273T missense 0.00000825●●●●●●
170. 75864918 c.2241G>C p.Q747H missense 0.00000825●●●●●●
171. 75855560 c.1690G>T p.G564W missense 0.00000825●●●●●●
172. 75802891 c.219T>A p.D73E missense 0.00000825●●●●●●
173. 75873967 c.2975A>G p.K992R missense 0.00000825●●●●●●
174. 75864883 c.2206A>G p.K736E missense 0.00000825●●●●●●
175. 75842237 c.809T>C p.L270S missense 0.00000825●●●●●●
176. 75871707 c.2786C>T p.A929V missense 0.00000825●●●●●●
177. 75874043 c.3051G>T p.Q1017H missense 0.00000825●●●●●●
178. 75865063 c.2386C>T p.P796S missense 0.00000825●●●●●●
179. 75865048 c.2371A>C p.S791R missense 0.00000825●●●●●●
180. 75842240 c.812C>T p.A271V missense 0.00000825●●●●●●
181. 75864896 c.2219C>T p.A740V missense 0.00000825●●●●●●
182. 75874059 c.3067G>A p.A1023T missense 0.00000825●●●●●●
183. 75842255 c.827A>G p.K276R missense 0.00000825●●●●●●
184. 75834652 c.774G>A p.W258X nonsense 0.00000825●●●●●●
185. 75830824 c.482C>T p.T161I missense 0.00000825●●●●●●
186. 75849052 c.1121T>C p.L374P missense 0.00000825●●●●●●
187. 75874018 c.3026G>T p.S1009I missense 0.00000825●●●●●●
188. 75842245 c.817A>C p.I273L missense 0.00000825●●●●●●
189. 75864914 c.2237C>A p.P746H missense 0.00000825●●●●●●
190. 75849829 c.1225C>G p.R409G missense 0.00000824●●●●●●
191. 75832496 c.508A>G p.K170E missense 0.00000824●●●●●●
192. 75863590 c.2035G>T p.A679S missense 0.00000824●●●●●●
193. 75871845 c.2924G>T p.R975L missense 0.00000824●●●●●●
194. 75871830 c.2909C>G p.A970G missense 0.00000824●●●●●●
195. 75864962 c.2285G>A p.R762Q missense 0.00000824●●●●●●
196. 75855467 c.1597A>G p.M533V missense 0.00000824●●●●●●
197. 75843137 c.888G>T p.E296D missense 0.00000824●●●●●●
198. 75871776 c.2855A>G p.E952G missense 0.00000824●●●●●●
199. 75834597 c.719A>C p.E240A missense 0.00000824●●●●●●
200. 75849905 c.1301C>A p.S434Y missense 0.00000824●●●●●●
201. 75832580 c.592G>A p.V198M missense 0.00000824●●●●●●
202. 75832553 c.565G>C p.V189L missense 0.00000824●●●●●●
203. 75867020 c.2467C>T p.R823W missense 0.00000824●●●●●●
204. 75855510 c.1640G>A p.R547Q missense 0.00000824●●●●●●
205. 75843198 c.949G>C p.E317Q missense 0.00000824●●●●●●
206. 75864945 c.2268T>G p.I756M missense 0.00000824●●●●●●
207. 75849950 c.1346G>T p.R449L missense 0.00000824●●●●●●
208. 75868745 c.2576C>T p.A859V missense 0.00000824●●●●●●
209. 75864950 c.2273G>C p.R758P missense 0.00000824●●●●●●
210. 75877827 c.3305T>C p.V1102A missense 0.00000824●●●●●●
211. 75857025 c.1807A>G p.T603A missense 0.00000824●●●●●●
212. 75857011 c.1793T>C p.V598A missense 0.00000824●●●●●●
213. 75865015 c.2338C>T p.R780C missense 0.00000824●●●●●●
214. 75855469 c.1599G>C p.M533I missense 0.00000824●●●●●●
215. 75843172 c.923A>T p.K308I missense 0.00000824●●●●●●
216. 75864982 c.2305A>G p.R769G missense 0.00000824●●●●●●
217. 75834624 c.746A>G p.Q249R missense 0.00000824●●●●●●
218. 75871796 c.2875A>G p.N959D missense 0.00000824●●●●●●
219. 75863649 c.2094G>A p.M698I missense 0.00000824●●●●●●
220. 75871721 c.2800G>A p.A934T missense 0.00000824●●●●●●
221. 75849913 c.1309G>A p.E437K missense 0.00000824●●●●●●
222. 75832573 c.585G>A p.M195I missense 0.00000824●●●●●●
223. 75849799 c.1195A>G p.N399D missense 0.00000824●●●●●●
224. 75830797 c.455A>G p.E152G missense 0.00000824●●●●●●
225. 75856983 c.1765G>A p.E589K missense 0.00000824●●●●●●
226. 75871835 c.2914T>A p.S972T missense 0.00000824●●●●●●
227. 75871827 c.2906C>A p.A969E missense 0.00000824●●●●●●
228. 75855429 c.1559G>T p.R520L missense 0.00000824●●●●●●
229. 75849857 c.1253T>C p.I418T missense 0.00000824●●●●●●
230. 75871754 c.2833A>G p.M945V missense 0.00000824●●●●●●
231. 75834579 c.701T>C p.V234A missense 0.00000824●●●●●●
232. 75871796 c.2875A>C p.N959H missense 0.00000824●●●●●●
233. 75832536 c.548C>T p.T183I missense 0.00000824●●●●●●
234. 75868748 c.2579C>T p.P860L missense 0.00000824●●●●●●
235. 75849896 c.1292T>G p.I431S missense 0.00000824●●●●●●
236. 75877841 c.3319C>T p.R1107W missense 0.00000824●●●●●●
237. 75866998 c.2445G>C p.K815N missense 0.00000824●●●●●●
238. 75857034 c.1816A>G p.I606V missense 0.00000824●●●●●●
239. 75857025 c.1807A>T p.T603S missense 0.00000824●●●●●●
240. 75873999 c.3007C>T p.R1003W missense 0.00000824●●●●●●
241. 75855497 c.1627G>T p.A543S missense 0.00000824●●●●●●
242. 75865030 c.2353G>A p.A785T missense 0.00000824●●●●●●
243. 75855476 c.1606C>T p.P536S missense 0.00000824●●●●●●
244. 75843177 c.928G>A p.G310S missense 0.00000824●●●●●●
245. 75871797 c.2876A>G p.N959S missense 0.00000824●●●●●●
246. 75832580 c.592G>T p.V198L missense 0.00000824●●●●●●
247. 75871746 c.2825C>A p.P942H missense 0.00000824●●●●●●
248. 75849916 c.1312A>T p.I438L missense 0.00000824●●●●●●
249. 75867054 c.2501C>G p.A834G missense 0.00000824●●●●●●
250. 75849809 c.1205C>T p.P402L missense 0.00000824●●●●●●
251. 75832492 c.504G>A p.M168I missense 0.00000824●●●●●●
252. 75830501 c.313C>T p.R105X nonsense 0.00000824●●●●●●
253. 75843217 c.968G>A p.G323E missense 0.00000824●●●●●●
254. 75855490 c.1620T>G p.D540E missense 0.00000824●●●●●●
255. 75871829 c.2908G>C p.A970P missense 0.00000824●●●●●●
256. 75843124 c.875G>A p.G292E missense 0.00000824●●●●●●
257. 75871787 c.2866A>C p.M956L missense 0.00000824●●●●●●
258. 75863593 c.2038C>T p.R680C missense 0.00000824●●●●●●
259. 75834582 c.704A>G p.E235G missense 0.00000824●●●●●●
260. 75849902 c.1298G>A p.R433H missense 0.00000824●●●●●●
261. 75849862 c.1258G>A p.E420K missense 0.00000824●●●●●●
262. 75868784 c.2615C>T p.P872L missense 0.00000824●●●●●●
263. 75830460 c.272C>A p.A91E missense 0.00000824●●●●●●
264. 75849813 c.1209_1211delAGG p.Gly404del inframe 0.00000824●●●●●●
265. 75877862 c.3340A>G p.I1114V missense 0.00000824●●●●●●
266. 75867017 c.2464T>C p.Y822H missense 0.00000824●●●●●●
267. 75857025 c.1807A>C p.T603P missense 0.00000824●●●●●●
268. 75855509 c.1639C>T p.R547X nonsense 0.00000824●●●●●●
269. 75855495 c.1625T>C p.L542P missense 0.00000824●●●●●●
270. 75843196 c.947A>C p.K316T missense 0.00000824●●●●●●
271. 75832515 c.527A>G p.D176G missense 0.00000824●●●●●●
272. 75871803 c.2882C>T p.P961L missense 0.00000824●●●●●●
273. 75871773 c.2852C>G p.P951R missense 0.00000824●●●●●●
274. 75849938 c.1334T>C p.L445S 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.