F7 variants in ExAC

F7 gene summary
F7 variants in

The table below lists the F7 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. 113760228 c.64+9G>A splice site 0.20961193●●●●●●
2. 113773159 c.1238G>A p.R413Q missense 0.13414530●●●●●●
3. 113771917 c.805+7A>G splice site 0.01200299●●●●●●
4. 113772717 c.806-10T>C splice site 0.00525005●●●●●●
5. 113760227 c.64+8C>T splice site 0.00521930●●●●●●
6. 113761156 c.65-3C>T splice site 0.00151815●●●●●●
7. 113772982 c.1061C>T p.A354V missense 0.00074877●●●●●●
8. 113760223 c.64+4C>T splice site 0.00074789●●●●●●
9. 113768260 c.416G>A p.R139Q missense 0.00058753●●●●●●
10. 113772772 c.851G>A p.R284Q missense 0.00054777●●●●●●
11. 113761160 c.66C>T p.G22G splice site 0.00051908●●●●●●
12. 113773012 c.1091G>A p.R364Q missense 0.00051896●●●●●●
13. 113765088 c.215C>G p.S72C missense 0.00050067●●●●●●
14. 113771107 c.599T>G p.I200S missense 0.00048893●●●●●●
15. 113765018 c.145G>A p.E49K missense 0.00040374●●●●●●
16. 113773254 c.1333G>A p.E445K missense 0.00035049●●●●●●
17. 113765081 c.208C>T p.P70S missense 0.00033561●●●●●●
18. 113773044 c.1123C>T p.R375W missense 0.00030568●●●●●●
19. 113771918 c.805+8_805+44delCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTG splice site 0.00019132●●●●●●
20. 113771160 c.652G>A p.V218M missense 0.00018239●●●●●●
21. 113761192 c.98G>A p.R33Q missense 0.00017921●●●●●●
22. 113765027 c.154C>T p.H52Y missense 0.00017265●●●●●●
23. 113770055 c.512C>T p.S171F missense 0.00016027●●●●●●
24. 113772832 c.911C>T p.A304V missense 0.00015146●●●●●●
25. 113770022 c.479A>G p.Q160R missense 0.00013759●●●●●●
26. 113772916 c.995C>T p.T332M missense 0.00013466●●●●●●
27. 113768274 c.430C>T p.H144Y missense 0.00012476●●●●●●
28. 113765049 c.176G>A p.R59Q missense 0.00011427●●●●●●
29. 113773072 c.1151C>T p.T384M missense 0.00011015●●●●●●
30. 113765117 c.244T>C p.C82R missense 0.00010922●●●●●●
31. 113773020 c.1099A>T p.T367S missense 0.00010230●●●●●●
32. 113768273 c.429G>A p.T143T splice site 0.00009971●●●●●●
33. 113771791 c.686_688delTGT p.L229_L230delinsL inframe 0.00009918●●●●●●
34. 113773065 c.1144A>G p.N382D missense 0.00009318●●●●●●
35. 113760157 c.2T>C p.Met1? missense 0.00007758●●●●●●
36. 113772975 c.1054G>A p.A352T missense 0.00007655●●●●●●
37. 113773288 c.1367G>A p.R456H missense 0.00007002●●●●●●
38. 113773287 c.1366C>T p.R456C missense 0.00006990●●●●●●
39. 113772995 c.1074G>A p.M358I missense 0.00006807●●●●●●
40. 113773185 c.1264G>A p.V422I missense 0.00006803●●●●●●
41. 113761231 c.130+7A>T splice site 0.00006763●●●●●●
42. 113772930 c.1009C>T p.R337C missense 0.00006741●●●●●●
43. 113768253 c.409G>A p.E137K missense 0.00006614●●●●●●
44. 113760208 c.53G>A p.C18Y missense 0.00006529●●●●●●
45. 113761201 c.107C>T p.P36L missense 0.00005966●●●●●●
46. 113773005 c.1084G>A p.V362M missense 0.00005956●●●●●●
47. 113773045 c.1124G>A p.R375Q missense 0.00005942●●●●●●
48. 113772898 c.977G>A p.R326Q missense 0.00005880●●●●●●
49. 113765000 c.131-4C>A splice site 0.00005871●●●●●●
50. 113765084 c.211G>A p.G71S missense 0.00005584●●●●●●
51. 113765126 c.253G>C p.E85Q missense 0.00005413●●●●●●
52. 113765123 c.250T>C p.F84L missense 0.00005409●●●●●●
53. 113765156 c.283G>A p.E95K missense 0.00005407●●●●●●
54. 113765131 c.258G>C p.E86D missense 0.00005393●●●●●●
55. 113765135 c.262C>G p.R88G missense 0.00005381●●●●●●
56. 113773206 c.1285G>A p.A429T missense 0.00005095●●●●●●
57. 113773212 c.1291G>A p.V431M missense 0.00005090●●●●●●
58. 113770060 c.517C>T p.R173W missense 0.00005050●●●●●●
59. 113771190 c.681+1G>T essential splice site 0.00004994●●●●●●
60. 113771781 c.682-6G>A splice site 0.00004961●●●●●●
61. 113761191 c.97C>T p.R33W missense 0.00004505●●●●●●
62. 113760219 c.64G>A p.G22S missense 0.00004491●●●●●●
63. 113760184 c.29G>A p.C10Y missense 0.00004486●●●●●●
64. 113772735 c.814G>A p.D272N missense 0.00004419●●●●●●
65. 113772751 c.830A>G p.D277G missense 0.00004345●●●●●●
66. 113772768 c.847C>T p.R283W missense 0.00004303●●●●●●
67. 113770030 c.487A>G p.S163G missense 0.00004273●●●●●●
68. 113773030 c.1109G>T p.C370F missense 0.00004252●●●●●●
69. 113773225 c.1304G>A p.G435E missense 0.00004244●●●●●●
70. 113773086 c.1165T>G p.C389G missense 0.00004233●●●●●●
71. 113772855 c.934G>A p.V312M missense 0.00004200●●●●●●
72. 113761161 c.67G>A p.G23R missense 0.00004024●●●●●●
73. 113772741 c.820A>G p.S274G missense 0.00003513●●●●●●
74. 113770009 c.466G>A p.G156S missense 0.00003493●●●●●●
75. 113773276 c.1355G>A p.R452H missense 0.00003464●●●●●●
76. 113773268 c.1347G>C p.K449N missense 0.00003451●●●●●●
77. 113773231 c.1310A>T p.Y437F missense 0.00003397●●●●●●
78. 113772894 c.973G>A p.E325K missense 0.00003359●●●●●●
79. 113770081 c.538C>G p.L180V missense 0.00003344●●●●●●
80. 113771918 c.805+8C>A splice site 0.00003323●●●●●●
81. 113771911 c.805+1G>A essential splice site 0.00003315●●●●●●
82. 113761179 c.85G>A p.G29R missense 0.00003140●●●●●●
83. 113773305 c.1384C>T p.R462X nonsense 0.00002684●●●●●●
84. 113773300 c.1379T>G p.L460R missense 0.00002665●●●●●●
85. 113770012 c.469G>A p.G157S missense 0.00002608●●●●●●
86. 113773145 c.1224T>G p.H408Q missense 0.00002570●●●●●●
87. 113773138 c.1217G>A p.G406D missense 0.00002560●●●●●●
88. 113772778 c.857C>T p.A286V missense 0.00002554●●●●●●
89. 113770040 c.497C>T p.T166M missense 0.00002553●●●●●●
90. 113773092 c.1171G>A p.G391S missense 0.00002542●●●●●●
91. 113772825 c.904G>A p.D302N missense 0.00002526●●●●●●
92. 113772841 c.920G>A p.R307H missense 0.00002523●●●●●●
93. 113770069 c.526G>A p.E176K missense 0.00002513●●●●●●
94. 113768274 c.430C>G p.H144D missense 0.00002495●●●●●●
95. 113768272 c.428C>T p.T143M missense 0.00002493●●●●●●
96. 113771117 c.609_611delAAG p.Arg204del inframe 0.00002485●●●●●●
97. 113771119 c.611G>A p.R204K missense 0.00002485●●●●●●
98. 113771902 c.797C>T p.A266V missense 0.00002483●●●●●●
99. 113771780 c.682-7C>T splice site 0.00002480●●●●●●
100. 113771857 c.752C>T p.A251V missense 0.00002478●●●●●●
101. 113760169 c.14C>T p.A5V missense 0.00002381●●●●●●
102. 113760183 c.28T>C p.C10R missense 0.00002251●●●●●●
103. 113761159 c.65G>A p.G22D missense 0.00002103●●●●●●
104. 113761161 c.67G>C p.G23R missense 0.00002012●●●●●●
105. 113761164 c.70G>A p.V24I missense 0.00001917●●●●●●
106. 113769972 c.431-2A>G essential splice site 0.00001881●●●●●●
107. 113773306 c.1385G>A p.R462Q missense 0.00001792●●●●●●
108. 113772729 c.808G>A p.E270K missense 0.00001783●●●●●●
109. 113772732 c.811C>T p.H271Y missense 0.00001778●●●●●●
110. 113773290 c.1369C>T p.P457S missense 0.00001752●●●●●●
111. 113772750 c.829G>A p.D277N missense 0.00001740●●●●●●
112. 113772753 c.832G>A p.G278R missense 0.00001734●●●●●●
113. 113773275 c.1354C>T p.R452C missense 0.00001732●●●●●●
114. 113772771 c.850C>T p.R284W missense 0.00001715●●●●●●
115. 113773011 c.1090C>G p.R364G missense 0.00001703●●●●●●
116. 113773011 c.1090C>T p.R364W missense 0.00001703●●●●●●
117. 113773177 c.1256C>T p.T419M missense 0.00001703●●●●●●
118. 113772979 c.1058C>T p.T353M missense 0.00001701●●●●●●
119. 113772969 c.1048C>T p.R350C missense 0.00001701●●●●●●
120. 113772981 c.1060G>T p.A354S missense 0.00001701●●●●●●
121. 113772970 c.1049G>A p.R350H missense 0.00001700●●●●●●
122. 113770043 c.500G>A p.G167D missense 0.00001698●●●●●●
123. 113773084 c.1163T>C p.F388S missense 0.00001693●●●●●●
124. 113772808 c.887C>T p.P296L missense 0.00001687●●●●●●
125. 113772931 c.1010G>A p.R337H missense 0.00001686●●●●●●
126. 113772927 c.1006G>A p.V336M missense 0.00001685●●●●●●
127. 113770061 c.518G>A p.R173Q missense 0.00001683●●●●●●
128. 113772911 c.990G>C p.E330D missense 0.00001682●●●●●●
129. 113772840 c.919C>T p.R307C missense 0.00001682●●●●●●
130. 113772855 c.934G>C p.V312L missense 0.00001680●●●●●●
131. 113771078 c.572-2A>G essential splice site 0.00001660●●●●●●
132. 113771142 c.634C>T p.R212X nonsense 0.00001657●●●●●●
133. 113771896 c.791T>C p.L264P missense 0.00001653●●●●●●
134. 113771818 c.713G>C p.C238S missense 0.00001652●●●●●●
135. 113768088 c.314G>A p.S105N missense 0.00001648●●●●●●
136. 113768163 c.319G>A p.G107R missense 0.00001648●●●●●●
137. 113768060 c.292-6C>T splice site 0.00001648●●●●●●
138. 113761220 c.126C>G p.H42Q missense 0.00001621●●●●●●
139. 113761182 c.88G>A p.G30R missense 0.00001542●●●●●●
140. 113761210 c.116C>T p.P39L missense 0.00001535●●●●●●
141. 113761183 c.89G>A p.G30E missense 0.00001531●●●●●●
142. 113761192 c.98G>C p.R33P missense 0.00001493●●●●●●
143. 113769980 c.437A>G p.D146G missense 0.00000913●●●●●●
144. 113773314 c.1393T>A p.F465I missense 0.00000906●●●●●●
145. 113772728 c.807C>T p.G269G splice site 0.00000895●●●●●●
146. 113772728 c.807C>A splice site 0.00000895●●●●●●
147. 113773296 c.1375G>T p.V459F missense 0.00000886●●●●●●
148. 113769997 c.454G>A p.V152M missense 0.00000880●●●●●●
149. 113772742 c.821G>A p.S274N missense 0.00000878●●●●●●
150. 113770003 c.460G>A p.E154K missense 0.00000878●●●●●●
151. 113770004 c.461A>G p.E154G missense 0.00000876●●●●●●
152. 113770010 c.467G>A p.G156D missense 0.00000873●●●●●●
153. 113773285 c.1364C>T p.P455L missense 0.00000873●●●●●●
154. 113772750 c.829G>C p.D277H missense 0.00000870●●●●●●
155. 113770013 c.470G>T p.G157V missense 0.00000868●●●●●●
156. 113772769 c.848G>T p.R283L missense 0.00000859●●●●●●
157. 113772769 c.848G>A p.R283Q missense 0.00000859●●●●●●
158. 113773256 c.1335G>C p.E445D missense 0.00000855●●●●●●
159. 113773154 c.1233C>G p.H411Q missense 0.00000855●●●●●●
160. 113773158 c.1237C>T p.R413W missense 0.00000855●●●●●●
161. 113773251 c.1330A>G p.I444V missense 0.00000853●●●●●●
162. 113772978 c.1057A>C p.T353P missense 0.00000851●●●●●●
163. 113770040 c.497C>A p.T166K missense 0.00000851●●●●●●
164. 113773180 c.1259G>C p.G420A missense 0.00000851●●●●●●
165. 113772777 c.856G>T p.A286S missense 0.00000851●●●●●●
166. 113773041 c.1120T>C p.S374P missense 0.00000850●●●●●●
167. 113770042 c.499G>T p.G167C missense 0.00000849●●●●●●
168. 113773227 c.1306G>A p.V436M missense 0.00000849●●●●●●
169. 113772966 c.1045G>A p.D349N missense 0.00000849●●●●●●
170. 113772784 c.863_865delTCA p.Ile290del inframe 0.00000848●●●●●●
171. 113773062 c.1141C>T p.P381S missense 0.00000848●●●●●●
172. 113773076 c.1155G>C p.E385D missense 0.00000847●●●●●●
173. 113773086 c.1165T>C p.C389R missense 0.00000847●●●●●●
174. 113773099 c.1178C>T p.S393L missense 0.00000847●●●●●●
175. 113773122 c.1201A>G p.K401E missense 0.00000846●●●●●●
176. 113770051 c.508C>T p.R170C missense 0.00000846●●●●●●
177. 113772799 c.878C>T p.T293M missense 0.00000845●●●●●●
178. 113772805 c.884T>A p.V295D missense 0.00000844●●●●●●
179. 113772803 c.882C>A p.Y294X nonsense 0.00000844●●●●●●
180. 113772940 c.1019T>G p.L340W missense 0.00000844●●●●●●
181. 113770054 c.511T>G p.S171A missense 0.00000844●●●●●●
182. 113772802 c.881A>C p.Y294S missense 0.00000844●●●●●●
183. 113770055 c.512C>A p.S171Y missense 0.00000844●●●●●●
184. 113772935 c.1014C>G p.F338L missense 0.00000843●●●●●●
185. 113772831 c.910G>A p.A304T missense 0.00000842●●●●●●
186. 113772822 c.901C>T p.H301Y missense 0.00000842●●●●●●
187. 113772924 c.1003T>C p.F335L missense 0.00000842●●●●●●
188. 113772901 c.980C>T p.T327M missense 0.00000840●●●●●●
189. 113772858 c.937G>T p.V313F missense 0.00000840●●●●●●
190. 113772853 c.932C>T p.P311L missense 0.00000840●●●●●●
191. 113772869 c.948C>A p.D316E missense 0.00000840●●●●●●
192. 113772880 c.959C>T p.P320L missense 0.00000840●●●●●●
193. 113772897 c.976C>T p.R326W missense 0.00000840●●●●●●
194. 113772882 c.961C>T p.L321F missense 0.00000840●●●●●●
195. 113772871 c.950A>T p.H317L missense 0.00000839●●●●●●
196. 113770068 c.525C>A p.H175Q missense 0.00000838●●●●●●
197. 113770092 c.549C>A p.D183E missense 0.00000835●●●●●●
198. 113768280 c.430+6G>T splice site 0.00000835●●●●●●
199. 113770094 c.551G>A p.G184E missense 0.00000835●●●●●●
200. 113768281 c.430+7C>T splice site 0.00000835●●●●●●
201. 113770112 c.569C>A p.T190K missense 0.00000834●●●●●●
202. 113771193 c.681+4A>G splice site 0.00000834●●●●●●
203. 113770100 c.557C>T p.S186F missense 0.00000834●●●●●●
204. 113770109 c.566C>G p.P189R missense 0.00000834●●●●●●
205. 113771188 c.680A>C p.Q227P missense 0.00000832●●●●●●
206. 113771180 c.672T>G p.C224W missense 0.00000831●●●●●●
207. 113771170 c.662A>G p.K221R missense 0.00000830●●●●●●
208. 113771172 c.664G>C p.G222R missense 0.00000830●●●●●●
209. 113771079 c.572-1G>A essential splice site 0.00000830●●●●●●
210. 113771075 c.572-5delC splice site 0.00000830●●●●●●
211. 113771164 c.656G>A p.C219Y missense 0.00000829●●●●●●
212. 113771091 c.583T>C p.C195R missense 0.00000829●●●●●●
213. 113771101 c.593T>C p.I198T missense 0.00000829●●●●●●
214. 113771118 c.610A>G p.R204G missense 0.00000828●●●●●●
215. 113771901 c.796G>A p.A266T missense 0.00000828●●●●●●
216. 113771125 c.617delC p.Ser207AlafsTer26 frameshift 0.00000828●●●●●●
217. 113771127 c.619A>T p.S207C missense 0.00000828●●●●●●
218. 113768264 c.420C>A p.N140K missense 0.00000828●●●●●●
219. 113771779 c.682-8C>T splice site 0.00000827●●●●●●
220. 113771783 c.682-4C>T splice site 0.00000827●●●●●●
221. 113768259 c.415C>T p.R139W missense 0.00000827●●●●●●
222. 113771782 c.682-5C>T splice site 0.00000827●●●●●●
223. 113771850 c.745G>T p.V249F missense 0.00000826●●●●●●
224. 113771795 c.690G>T p.L230F missense 0.00000826●●●●●●
225. 113771866 c.761G>C p.C254S missense 0.00000826●●●●●●
226. 113771871 c.766G>A p.D256N missense 0.00000826●●●●●●
227. 113771887 c.782G>A p.Trp261Ter nonsense 0.00000826●●●●●●
228. 113771800 c.695T>C p.V232A missense 0.00000826●●●●●●
229. 113771857 c.752C>A p.A251E missense 0.00000826●●●●●●
230. 113768202 c.358T>G p.S120A missense 0.00000825●●●●●●
231. 113768208 c.364A>C p.K122Q missense 0.00000825●●●●●●
232. 113768226 c.382T>C p.Y128H missense 0.00000825●●●●●●
233. 113768097 c.316+7G>T splice site 0.00000824●●●●●●
234. 113768091 c.316+1G>A essential splice site 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.