FN1 variants in ExAC

FN1 gene summary
FN1 variants in

The table below lists the FN1 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. 216272900 c.2449A>C p.T817P missense 0.99999176●●●●●●
2. 216235089 c.6781G>A p.V2261I missense 0.99997529●●●●●●
3. 216300482 c.44A>T p.Q15L missense 0.76906556●●●●●●
4. 216283958 c.1819+7A>T splice site 0.32060678●●●●●●
5. 216299550 c.149-3C>T splice site 0.31964754●●●●●●
6. 216299551 c.149-4G>T splice site 0.31962537●●●●●●
7. 0 c.5978-12_5978-11delGT splice site 0.31887902●●●●●●
8. 216256344 c.4252+11G>C splice site 0.03705323●●●●●●
9. 216236712 c.6634A>G p.I2212V missense 0.01616862●●●●●●
10. 216235046 c.6824G>A p.R2275Q missense 0.01030512●●●●●●
11. 216251538 c.4486C>T p.R1496W missense 0.00490390●●●●●●
12. 216271244 c.2714-11_2714-10delTT splice site 0.00395776●●●●●●
13. 216256388 c.4219A>G p.I1407V missense 0.00384806●●●●●●
14. 216284009 c.1775G>A p.R592H missense 0.00370859●●●●●●
15. 216264021 c.3307A>C p.I1103L missense 0.00362546●●●●●●
16. 216300470 c.56C>T p.T19I missense 0.00349544●●●●●●
17. 216285530 c.1547-6A>G splice site 0.00271295●●●●●●
18. 216232579 c.7018+7A>G splice site 0.00235908●●●●●●
19. 216289015 c.1070G>A p.G357E missense 0.00229826●●●●●●
20. 216261851 c.3604+9G>A splice site 0.00213362●●●●●●
21. 216274456 c.2129C>T p.T710I missense 0.00164181●●●●●●
22. 216300405 c.121T>G p.S41A missense 0.00162195●●●●●●
23. 216300486 c.40G>C p.V14L missense 0.00150279●●●●●●
24. 216292996 c.751A>T p.N251Y missense 0.00149928●●●●●●
25. 216269247 c.3118A>G p.R1040G missense 0.00149082●●●●●●
26. 216232681 c.6923T>C p.V2308A missense 0.00136772●●●●●●
27. 216235029 c.6841G>A p.V2281M missense 0.00105445●●●●●●
28. 216274441 c.2144C>T p.T715M missense 0.00080831●●●●●●
29. 216244047 c.5435-7T>C splice site 0.00071786●●●●●●
30. 216261932 c.3532A>G p.T1178A missense 0.00070052●●●●●●
31. 216298149 c.313A>C p.T105P missense 0.00062777●●●●●●
32. 216285504 c.1567A>C p.I523L missense 0.00053568●●●●●●
33. 216251580 c.4444C>T p.R1482C missense 0.00049122●●●●●●
34. 216226759 c.7295G>C p.S2432T missense 0.00046252●●●●●●
35. 216288916 c.1169C>T p.S390L missense 0.00043659●●●●●●
36. 216240047 c.6047C>T p.P2016L missense 0.00039577●●●●●●
37. 216262556 c.3364A>C p.S1122R missense 0.00035437●●●●●●
38. 216226780 c.7274G>A p.R2425H missense 0.00034802●●●●●●
39. 216251667 c.4357A>G p.T1453A missense 0.00033878●●●●●●
40. 216269175 c.3190G>A p.V1064I missense 0.00031300●●●●●●
41. 216232717 c.6887C>T p.S2296L missense 0.00026369●●●●●●
42. 216288105 c.1361C>A p.A454D missense 0.00025538●●●●●●
43. 216299494 c.202A>T p.T68S missense 0.00025533●●●●●●
44. 216242957 c.5651A>G p.Y1884C missense 0.00024749●●●●●●
45. 216259262 c.3785C>A p.T1262N missense 0.00024712●●●●●●
46. 216240375 c.5954C>A p.P1985H missense 0.00022281●●●●●●
47. 216262400 c.3517+3A>G splice site 0.00022254●●●●●●
48. 216300492 c.34_36delCTG p.Leu12del inframe 0.00022154●●●●●●
49. 216273090 c.2359A>T p.I787F missense 0.00021419●●●●●●
50. 216241271 c.5837C>T p.T1946I missense 0.00018126●●●●●●
51. 216271051 c.2896G>A p.G966R missense 0.00017305●●●●●●
52. 216285470 c.1601G>A p.R534H missense 0.00017303●●●●●●
53. 216300385 c.141A>C p.Q47H missense 0.00017264●●●●●●
54. 216289984 c.869G>A p.R290H missense 0.00016489●●●●●●
55. 216286912 c.1448A>G p.Q483R missense 0.00016473●●●●●●
56. 216256493 c.4114G>A p.D1372N missense 0.00015658●●●●●●
57. 216269178 c.3187A>G p.T1063A missense 0.00015650●●●●●●
58. 216257770 c.3953C>G p.S1318C missense 0.00014916●●●●●●
59. 216226708 c.7346A>G p.H2449R missense 0.00014860●●●●●●
60. 216274454 c.2131G>A p.V711M missense 0.00014850●●●●●●
61. 216289966 c.887C>T p.P296L missense 0.00014837●●●●●●
62. 216257809 c.3914C>A p.A1305E missense 0.00014084●●●●●●
63. 216288219 c.1247A>G p.N416S missense 0.00014051●●●●●●
64. 216261923 c.3541C>G p.H1181D missense 0.00014009●●●●●●
65. 216269303 c.3062G>A p.R1021Q missense 0.00014003●●●●●●
66. 216240345 c.5977+7A>G splice site 0.00012407●●●●●●
67. 216248878 c.4759G>A p.V1587M missense 0.00012357●●●●●●
68. 216257690 c.4033G>A p.G1345S missense 0.00011600●●●●●●
69. 216257815 c.3908T>C p.V1303A missense 0.00011598●●●●●●
70. 216273036 c.2413A>G p.T805A missense 0.00011532●●●●●●
71. 216296601 c.502G>A p.V168M missense 0.00011531●●●●●●
72. 216236736 c.6610C>A p.Q2204K missense 0.00011531●●●●●●
73. 216270963 c.2984C>T p.T995I missense 0.00010734●●●●●●
74. 216241347 c.5761A>T p.I1921F missense 0.00010711●●●●●●
75. 216269334 c.3031T>G p.S1011A missense 0.00010709●●●●●●
76. 216269160 c.3205A>T p.I1069L missense 0.00010709●●●●●●
77. 216271230 c.2717C>T p.T906I missense 0.00010377●●●●●●
78. 216257778 c.3945T>G p.F1315L missense 0.00009943●●●●●●
79. 216292908 c.839C>T p.S280L missense 0.00009898●●●●●●
80. 216251462 c.4562C>G p.A1521G missense 0.00009891●●●●●●
81. 216264005 c.3323C>T p.T1108M missense 0.00009888●●●●●●
82. 216248745 c.4892C>A p.T1631K missense 0.00009887●●●●●●
83. 216237006 c.6340G>A p.V2114I missense 0.00009887●●●●●●
84. 216226786 c.7268A>G p.N2423S missense 0.00009138●●●●●●
85. 216249663 c.4649C>T p.A1550V missense 0.00009074●●●●●●
86. 216264079 c.3254-5C>T splice site 0.00009069●●●●●●
87. 216289949 c.904C>G p.P302A missense 0.00009065●●●●●●
88. 216256394 c.4213T>G p.L1405V missense 0.00009064●●●●●●
89. 216236998 c.6348C>A p.H2116Q missense 0.00009062●●●●●●
90. 216248845 c.4792G>A p.G1598S missense 0.00009062●●●●●●
91. 216240426 c.5903C>G p.T1968S missense 0.00008275●●●●●●
92. 216241290 c.5818G>A p.V1940I missense 0.00008244●●●●●●
93. 216262429 c.3491C>T p.A1164V missense 0.00008240●●●●●●
94. 216238141 c.6158-7C>T splice site 0.00008238●●●●●●
95. 216269339 c.3026C>A p.T1009N missense 0.00008238●●●●●●
96. 216296589 c.514A>G p.N172D missense 0.00008236●●●●●●
97. 216300512 c.14C>G p.P5R missense 0.00007806●●●●●●
98. 216226685 c.7362+7G>C splice site 0.00007462●●●●●●
99. 216295579 c.548-4A>G splice site 0.00007460●●●●●●
100. 216257873 c.3850G>A p.G1284S missense 0.00007457●●●●●●
101. 216237085 c.6261A>C p.Q2087H missense 0.00007442●●●●●●
102. 216271126 c.2821G>A p.V941M missense 0.00007423●●●●●●
103. 216284069 c.1715T>C p.I572T missense 0.00007416●●●●●●
104. 216262415 c.3505A>G p.K1169E missense 0.00007416●●●●●●
105. 216245681 c.5287G>A p.G1763R missense 0.00007414●●●●●●
106. 216269235 c.3130G>A p.V1044M missense 0.00007413●●●●●●
107. 216236762 c.6584G>A p.G2195E missense 0.00007413●●●●●●
108. 216256545 c.4070-8G>A splice site 0.00006607●●●●●●
109. 216240041 c.6053G>A p.R2018H missense 0.00006598●●●●●●
110. 216241376 c.5732C>T p.A1911V missense 0.00006595●●●●●●
111. 216251465 c.4559T>G p.V1520G missense 0.00006593●●●●●●
112. 216243984 c.5491G>A p.A1831T missense 0.00006592●●●●●●
113. 216243854 c.5621T>C p.M1874T missense 0.00006591●●●●●●
114. 216274647 c.2122+10C>T splice site 0.00006589●●●●●●
115. 216269251 c.3114G>C p.Q1038H missense 0.00006589●●●●●●
116. 216226285 c.7427G>A p.R2476Q missense 0.00006589●●●●●●
117. 216298091 c.371C>A p.T124N missense 0.00006589●●●●●●
118. 216237097 c.6249C>T p.D2083D splice site 0.00005803●●●●●●
119. 216256546 c.4070-9C>T splice site 0.00005783●●●●●●
120. 216285516 c.1555A>G p.I519V missense 0.00005771●●●●●●
121. 216242918 c.5690G>T p.G1897V missense 0.00005771●●●●●●
122. 216283979 c.1805T>C p.L602S missense 0.00005770●●●●●●
123. 216240034 c.6060G>C p.R2020S missense 0.00005769●●●●●●
124. 216232726 c.6878C>T p.T2293M missense 0.00005769●●●●●●
125. 216284003 c.1781T>C p.I594T missense 0.00005769●●●●●●
126. 216243993 c.5482A>G p.S1828G missense 0.00005768●●●●●●
127. 216259412 c.3635C>G p.P1212R missense 0.00005768●●●●●●
128. 216236765 c.6581C>T p.P2194L missense 0.00005766●●●●●●
129. 216238050 c.6242A>C p.K2081T missense 0.00005766●●●●●●
130. 216246924 c.5164+11A>G splice site 0.00004997●●●●●●
131. 216257858 c.3865C>T p.P1289S missense 0.00004970●●●●●●
132. 216235166 c.6715-11G>A splice site 0.00004951●●●●●●
133. 216248915 c.4730-8T>C splice site 0.00004946●●●●●●
134. 216241367 c.5741C>A p.T1914K missense 0.00004945●●●●●●
135. 216289031 c.1054G>A p.G352S missense 0.00004945●●●●●●
136. 216230352 c.7020A>G splice site 0.00004945●●●●●●
137. 216241373 c.5735G>A p.R1912H missense 0.00004945●●●●●●
138. 216262472 c.3448G>A p.V1150I missense 0.00004944●●●●●●
139. 216236857 c.6489G>T p.R2163S missense 0.00004943●●●●●●
140. 216272884 c.2465T>C p.V822A missense 0.00004943●●●●●●
141. 216248829 c.4808T>C p.V1603A missense 0.00004943●●●●●●
142. 216269166 c.3199G>A p.V1067M missense 0.00004942●●●●●●
143. 216259329 c.3718G>A p.G1240S missense 0.00004942●●●●●●
144. 216236712 c.6634A>T p.I2212F missense 0.00004942●●●●●●
145. 216271970 c.2593G>A p.V865I missense 0.00004942●●●●●●
146. 216229602 c.7251G>A p.R2417R splice site 0.00004490●●●●●●
147. 216300395 c.131C>A p.A44D missense 0.00004346●●●●●●
148. 216257813 c.3910G>A p.A1304T missense 0.00004142●●●●●●
149. 216257753 c.3970A>C p.T1324P missense 0.00004142●●●●●●
150. 216279649 c.1852G>A p.E618K missense 0.00004128●●●●●●
151. 216240372 c.5957T>C p.V1986A missense 0.00004126●●●●●●
152. 216288862 c.1216+7G>A splice site 0.00004123●●●●●●
153. 216289991 c.862G>A p.D288N missense 0.00004123●●●●●●
154. 216259421 c.3626C>T p.T1209I missense 0.00004122●●●●●●
155. 216236625 c.6714+7_6714+10delAATT splice site 0.00004122●●●●●●
156. 216256466 c.4141C>T p.P1381S missense 0.00004120●●●●●●
157. 216253015 c.4262C>G p.P1421R missense 0.00004120●●●●●●
158. 216253022 c.4255C>G p.L1419V missense 0.00004120●●●●●●
159. 216284027 c.1757A>G p.Q586R missense 0.00004120●●●●●●
160. 216232682 c.6922G>A p.V2308I missense 0.00004119●●●●●●
161. 216248779 c.4858G>A p.A1620T missense 0.00004119●●●●●●
162. 216236639 c.6707C>A p.P2236H missense 0.00004119●●●●●●
163. 216243878 c.5597C>T p.S1866L missense 0.00004119●●●●●●
164. 216236897 c.6449G>A p.R2150Q missense 0.00004119●●●●●●
165. 216269345 c.3020A>G p.N1007S missense 0.00004119●●●●●●
166. 216248758 c.4879A>G p.I1627V missense 0.00004119●●●●●●
167. 216273015 c.2428+6T>C splice site 0.00004119●●●●●●
168. 216286924 c.1436G>T p.R479L missense 0.00004118●●●●●●
169. 216236685 c.6661T>G p.S2221A missense 0.00004118●●●●●●
170. 216269216 c.3149A>G p.K1050R missense 0.00004118●●●●●●
171. 216269304 c.3061C>T p.R1021W missense 0.00004118●●●●●●
172. 216300517 c.9G>C p.R3S missense 0.00004106●●●●●●
173. 216300439 c.87C>A p.S29R missense 0.00003894●●●●●●
174. 216229639 c.7214G>A p.G2405D missense 0.00003504●●●●●●
175. 216300375 c.148+3G>A splice site 0.00003447●●●●●●
176. 216240111 c.5983G>A p.D1995N missense 0.00003386●●●●●●
177. 216257929 c.3797-3T>C splice site 0.00003322●●●●●●
178. 216247031 c.5068A>G p.I1690V missense 0.00003318●●●●●●
179. 216257896 c.3827T>C p.V1276A missense 0.00003315●●●●●●
180. 216279657 c.1844T>A p.F615Y missense 0.00003304●●●●●●
181. 216270967 c.2980A>G p.T994A missense 0.00003302●●●●●●
182. 216251421 c.4603C>A p.Q1535K missense 0.00003301●●●●●●
183. 216271134 c.2813G>A p.R938H missense 0.00003301●●●●●●
184. 216245551 c.5417T>C p.I1806T missense 0.00003300●●●●●●
185. 216251427 c.4597G>A p.G1533S missense 0.00003300●●●●●●
186. 216240384 c.5945G>A p.R1982Q missense 0.00003300●●●●●●
187. 216261950 c.3518-4A>G splice site 0.00003299●●●●●●
188. 216283976 c.1808A>G p.Q603R missense 0.00003298●●●●●●
189. 216292914 c.833C>G p.T278S missense 0.00003298●●●●●●
190. 216245566 c.5402A>T p.E1801V missense 0.00003298●●●●●●
191. 216262577 c.3349-6delC splice site 0.00003298●●●●●●
192. 216288866 c.1216+3G>A splice site 0.00003298●●●●●●
193. 216245567 c.5401G>T p.E1801X nonsense 0.00003298●●●●●●
194. 216289951 c.902A>T p.Q301L missense 0.00003297●●●●●●
195. 216295526 c.597A>T p.E199D missense 0.00003296●●●●●●
196. 216256484 c.4123C>T p.R1375C missense 0.00003296●●●●●●
197. 216245759 c.5209G>A p.D1737N missense 0.00003296●●●●●●
198. 216262454 c.3466C>G p.L1156V missense 0.00003296●●●●●●
199. 216256372 c.4235A>G p.N1412S missense 0.00003296●●●●●●
200. 216264039 c.3289G>A p.E1097K missense 0.00003296●●●●●●
201. 216271068 c.2879C>G p.T960S missense 0.00003296●●●●●●
202. 216269216 c.3149A>C p.K1050T missense 0.00003295●●●●●●
203. 216238140 c.6158-6C>T splice site 0.00003295●●●●●●
204. 216286924 c.1436G>C p.R479P missense 0.00003295●●●●●●
205. 216289019 c.1066A>C p.N356H missense 0.00003295●●●●●●
206. 216298050 c.412G>A p.A138T missense 0.00003295●●●●●●
207. 216230302 c.7070G>A p.R2357H missense 0.00003295●●●●●●
208. 216248778 c.4859C>A p.A1620E missense 0.00003295●●●●●●
209. 216289012 c.1073A>G p.E358G missense 0.00003295●●●●●●
210. 216248836 c.4801C>T p.P1601S missense 0.00003295●●●●●●
211. 216269211 c.3154C>G p.P1052A missense 0.00003295●●●●●●
212. 216286816 c.1544G>A p.R515Q missense 0.00003295●●●●●●
213. 216274717 c.2062G>A p.G688S missense 0.00003295●●●●●●
214. 216229658 c.7195T>C p.W2399R missense 0.00003061●●●●●●
215. 216300452 c.74G>A p.G25E missense 0.00003019●●●●●●
216. 216229711 c.7145-3C>T splice site 0.00002954●●●●●●
217. 216229670 c.7183G>A p.V2395I missense 0.00002898●●●●●●
218. 216274828 c.1951G>A p.V651I missense 0.00002866●●●●●●
219. 216229684 c.7169G>C p.G2390A missense 0.00002800●●●●●●
220. 216229685 c.7168G>A p.G2390R missense 0.00002794●●●●●●
221. 216274821 c.1958G>A p.R653H missense 0.00002698●●●●●●
222. 216300383 c.143G>A p.S48N missense 0.00002590●●●●●●
223. 216300375 c.148+3_148+4insT splice site 0.00002585●●●●●●
224. 216288260 c.1217-11_1217-9delGTT splice site 0.00002578●●●●●●
225. 216240113 c.5981T>C p.I1994T missense 0.00002572●●●●●●
226. 216295581 c.548-6C>T splice site 0.00002489●●●●●●
227. 216237103 c.6248-5G>C splice site 0.00002489●●●●●●
228. 216246931 c.5164+4C>T splice site 0.00002489●●●●●●
229. 216226684 c.7362+8C>G splice site 0.00002488●●●●●●
230. 216257711 c.4012G>A p.V1338I missense 0.00002486●●●●●●
231. 216257836 c.3887T>C p.I1296T missense 0.00002485●●●●●●
232. 216242981 c.5627C>T p.A1876V missense 0.00002484●●●●●●
233. 216259449 c.3605-7dupT splice site 0.00002483●●●●●●
234. 216247012 c.5087C>T p.T1696I missense 0.00002483●●●●●●
235. 216271156 c.2791G>A p.E931K missense 0.00002480●●●●●●
236. 216240361 c.5968G>A p.A1990T missense 0.00002477●●●●●●
237. 216271141 c.2806G>A p.G936S missense 0.00002476●●●●●●
238. 216242963 c.5645G>A p.S1882N missense 0.00002476●●●●●●
239. 216289810 c.1036+7A>G splice site 0.00002475●●●●●●
240. 216289812 c.1036+5G>A splice site 0.00002475●●●●●●
241. 216240042 c.6052C>T p.R2018C missense 0.00002475●●●●●●
242. 216292904 c.843C>T splice site 0.00002475●●●●●●
243. 216245551 c.5417T>A p.I1806N missense 0.00002475●●●●●●
244. 216298142 c.320G>A p.R107Q missense 0.00002474●●●●●●
245. 216251438 c.4586C>G p.P1529R missense 0.00002474●●●●●●
246. 216256346 c.4252+9T>C splice site 0.00002474●●●●●●
247. 216252933 c.4342+2T>C essential splice site 0.00002474●●●●●●
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819. 216264015 c.3313A>G p.I1105V missense 0.00000824●●●●●●
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821. 216285446 c.1625A>G p.N542S missense 0.00000824●●●●●●
822. 216298080 c.382G>A p.A128T missense 0.00000824●●●●●●
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846. 216248183 c.4918C>G p.Q1640E missense 0.00000824●●●●●●
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853. 216238068 c.6224C>T p.P2075L missense 0.00000824●●●●●●
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856. 216269262 c.3103C>T p.R1035X nonsense 0.00000824●●●●●●
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915. 216264069 c.3259C>T p.P1087S missense 0.00000824●●●●●●
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921. 216299517 c.179A>C p.Q60P missense 0.00000824●●●●●●
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925. 216236922 c.6424A>C p.I2142L missense 0.00000824●●●●●●
926. 216292940 c.807G>C p.K269N missense 0.00000824●●●●●●
927. 216230336 c.7036G>A p.G2346S missense 0.00000824●●●●●●
928. 216286858 c.1502A>T p.N501I missense 0.00000824●●●●●●
929. 216236792 c.6554T>C p.V2185A missense 0.00000824●●●●●●
930. 216286825 c.1535C>T p.S512L missense 0.00000824●●●●●●
931. 216274384 c.2201G>A p.S734N missense 0.00000824●●●●●●
932. 216262423 c.3497T>C p.I1166T missense 0.00000824●●●●●●
933. 216299422 c.274G>A p.E92K missense 0.00000824●●●●●●
934. 216261940 c.3524C>A p.S1175Y missense 0.00000824●●●●●●
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940. 216256450 c.4157T>G p.L1386X nonsense 0.00000824●●●●●●
941. 216298109 c.353C>G p.S118C missense 0.00000824●●●●●●
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945. 216243944 c.5531G>A p.R1844Q 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.