FN1 missense variants in ExAC

FN1 gene summary
FN1 variants in

The table below lists the FN1 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. 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. 216236712 c.6634A>G p.I2212V missense 0.01616862●●●●●●
5. 216235046 c.6824G>A p.R2275Q missense 0.01030512●●●●●●
6. 216251538 c.4486C>T p.R1496W missense 0.00490390●●●●●●
7. 216256388 c.4219A>G p.I1407V missense 0.00384806●●●●●●
8. 216284009 c.1775G>A p.R592H missense 0.00370859●●●●●●
9. 216264021 c.3307A>C p.I1103L missense 0.00362546●●●●●●
10. 216300470 c.56C>T p.T19I missense 0.00349544●●●●●●
11. 216289015 c.1070G>A p.G357E missense 0.00229826●●●●●●
12. 216274456 c.2129C>T p.T710I missense 0.00164181●●●●●●
13. 216300405 c.121T>G p.S41A missense 0.00162195●●●●●●
14. 216300486 c.40G>C p.V14L missense 0.00150279●●●●●●
15. 216292996 c.751A>T p.N251Y missense 0.00149928●●●●●●
16. 216269247 c.3118A>G p.R1040G missense 0.00149082●●●●●●
17. 216232681 c.6923T>C p.V2308A missense 0.00136772●●●●●●
18. 216235029 c.6841G>A p.V2281M missense 0.00105445●●●●●●
19. 216274441 c.2144C>T p.T715M missense 0.00080831●●●●●●
20. 216261932 c.3532A>G p.T1178A missense 0.00070052●●●●●●
21. 216298149 c.313A>C p.T105P missense 0.00062777●●●●●●
22. 216285504 c.1567A>C p.I523L missense 0.00053568●●●●●●
23. 216251580 c.4444C>T p.R1482C missense 0.00049122●●●●●●
24. 216226759 c.7295G>C p.S2432T missense 0.00046252●●●●●●
25. 216288916 c.1169C>T p.S390L missense 0.00043659●●●●●●
26. 216240047 c.6047C>T p.P2016L missense 0.00039577●●●●●●
27. 216262556 c.3364A>C p.S1122R missense 0.00035437●●●●●●
28. 216226780 c.7274G>A p.R2425H missense 0.00034802●●●●●●
29. 216251667 c.4357A>G p.T1453A missense 0.00033878●●●●●●
30. 216269175 c.3190G>A p.V1064I missense 0.00031300●●●●●●
31. 216232717 c.6887C>T p.S2296L missense 0.00026369●●●●●●
32. 216288105 c.1361C>A p.A454D missense 0.00025538●●●●●●
33. 216299494 c.202A>T p.T68S missense 0.00025533●●●●●●
34. 216242957 c.5651A>G p.Y1884C missense 0.00024749●●●●●●
35. 216259262 c.3785C>A p.T1262N missense 0.00024712●●●●●●
36. 216240375 c.5954C>A p.P1985H missense 0.00022281●●●●●●
37. 216273090 c.2359A>T p.I787F missense 0.00021419●●●●●●
38. 216241271 c.5837C>T p.T1946I missense 0.00018126●●●●●●
39. 216271051 c.2896G>A p.G966R missense 0.00017305●●●●●●
40. 216285470 c.1601G>A p.R534H missense 0.00017303●●●●●●
41. 216300385 c.141A>C p.Q47H missense 0.00017264●●●●●●
42. 216289984 c.869G>A p.R290H missense 0.00016489●●●●●●
43. 216286912 c.1448A>G p.Q483R missense 0.00016473●●●●●●
44. 216256493 c.4114G>A p.D1372N missense 0.00015658●●●●●●
45. 216269178 c.3187A>G p.T1063A missense 0.00015650●●●●●●
46. 216257770 c.3953C>G p.S1318C missense 0.00014916●●●●●●
47. 216226708 c.7346A>G p.H2449R missense 0.00014860●●●●●●
48. 216274454 c.2131G>A p.V711M missense 0.00014850●●●●●●
49. 216289966 c.887C>T p.P296L missense 0.00014837●●●●●●
50. 216257809 c.3914C>A p.A1305E missense 0.00014084●●●●●●
51. 216288219 c.1247A>G p.N416S missense 0.00014051●●●●●●
52. 216261923 c.3541C>G p.H1181D missense 0.00014009●●●●●●
53. 216269303 c.3062G>A p.R1021Q missense 0.00014003●●●●●●
54. 216248878 c.4759G>A p.V1587M missense 0.00012357●●●●●●
55. 216257690 c.4033G>A p.G1345S missense 0.00011600●●●●●●
56. 216257815 c.3908T>C p.V1303A missense 0.00011598●●●●●●
57. 216273036 c.2413A>G p.T805A missense 0.00011532●●●●●●
58. 216236736 c.6610C>A p.Q2204K missense 0.00011531●●●●●●
59. 216296601 c.502G>A p.V168M missense 0.00011531●●●●●●
60. 216270963 c.2984C>T p.T995I missense 0.00010734●●●●●●
61. 216241347 c.5761A>T p.I1921F missense 0.00010711●●●●●●
62. 216269160 c.3205A>T p.I1069L missense 0.00010709●●●●●●
63. 216269334 c.3031T>G p.S1011A missense 0.00010709●●●●●●
64. 216271230 c.2717C>T p.T906I missense 0.00010377●●●●●●
65. 216257778 c.3945T>G p.F1315L missense 0.00009943●●●●●●
66. 216292908 c.839C>T p.S280L missense 0.00009898●●●●●●
67. 216251462 c.4562C>G p.A1521G missense 0.00009891●●●●●●
68. 216264005 c.3323C>T p.T1108M missense 0.00009888●●●●●●
69. 216248745 c.4892C>A p.T1631K missense 0.00009887●●●●●●
70. 216237006 c.6340G>A p.V2114I missense 0.00009887●●●●●●
71. 216226786 c.7268A>G p.N2423S missense 0.00009138●●●●●●
72. 216249663 c.4649C>T p.A1550V missense 0.00009074●●●●●●
73. 216289949 c.904C>G p.P302A missense 0.00009065●●●●●●
74. 216256394 c.4213T>G p.L1405V missense 0.00009064●●●●●●
75. 216236998 c.6348C>A p.H2116Q missense 0.00009062●●●●●●
76. 216248845 c.4792G>A p.G1598S missense 0.00009062●●●●●●
77. 216240426 c.5903C>G p.T1968S missense 0.00008275●●●●●●
78. 216241290 c.5818G>A p.V1940I missense 0.00008244●●●●●●
79. 216262429 c.3491C>T p.A1164V missense 0.00008240●●●●●●
80. 216269339 c.3026C>A p.T1009N missense 0.00008238●●●●●●
81. 216296589 c.514A>G p.N172D missense 0.00008236●●●●●●
82. 216300512 c.14C>G p.P5R missense 0.00007806●●●●●●
83. 216257873 c.3850G>A p.G1284S missense 0.00007457●●●●●●
84. 216237085 c.6261A>C p.Q2087H missense 0.00007442●●●●●●
85. 216271126 c.2821G>A p.V941M missense 0.00007423●●●●●●
86. 216284069 c.1715T>C p.I572T missense 0.00007416●●●●●●
87. 216262415 c.3505A>G p.K1169E missense 0.00007416●●●●●●
88. 216245681 c.5287G>A p.G1763R missense 0.00007414●●●●●●
89. 216236762 c.6584G>A p.G2195E missense 0.00007413●●●●●●
90. 216269235 c.3130G>A p.V1044M missense 0.00007413●●●●●●
91. 216240041 c.6053G>A p.R2018H missense 0.00006598●●●●●●
92. 216241376 c.5732C>T p.A1911V missense 0.00006595●●●●●●
93. 216251465 c.4559T>G p.V1520G missense 0.00006593●●●●●●
94. 216243984 c.5491G>A p.A1831T missense 0.00006592●●●●●●
95. 216243854 c.5621T>C p.M1874T missense 0.00006591●●●●●●
96. 216269251 c.3114G>C p.Q1038H missense 0.00006589●●●●●●
97. 216298091 c.371C>A p.T124N missense 0.00006589●●●●●●
98. 216226285 c.7427G>A p.R2476Q missense 0.00006589●●●●●●
99. 216285516 c.1555A>G p.I519V missense 0.00005771●●●●●●
100. 216242918 c.5690G>T p.G1897V missense 0.00005771●●●●●●
101. 216283979 c.1805T>C p.L602S missense 0.00005770●●●●●●
102. 216240034 c.6060G>C p.R2020S missense 0.00005769●●●●●●
103. 216232726 c.6878C>T p.T2293M missense 0.00005769●●●●●●
104. 216284003 c.1781T>C p.I594T missense 0.00005769●●●●●●
105. 216243993 c.5482A>G p.S1828G missense 0.00005768●●●●●●
106. 216259412 c.3635C>G p.P1212R missense 0.00005768●●●●●●
107. 216238050 c.6242A>C p.K2081T missense 0.00005766●●●●●●
108. 216236765 c.6581C>T p.P2194L missense 0.00005766●●●●●●
109. 216257858 c.3865C>T p.P1289S missense 0.00004970●●●●●●
110. 216289031 c.1054G>A p.G352S missense 0.00004945●●●●●●
111. 216241373 c.5735G>A p.R1912H missense 0.00004945●●●●●●
112. 216241367 c.5741C>A p.T1914K missense 0.00004945●●●●●●
113. 216262472 c.3448G>A p.V1150I missense 0.00004944●●●●●●
114. 216248829 c.4808T>C p.V1603A missense 0.00004943●●●●●●
115. 216272884 c.2465T>C p.V822A missense 0.00004943●●●●●●
116. 216236857 c.6489G>T p.R2163S missense 0.00004943●●●●●●
117. 216259329 c.3718G>A p.G1240S missense 0.00004942●●●●●●
118. 216236712 c.6634A>T p.I2212F missense 0.00004942●●●●●●
119. 216271970 c.2593G>A p.V865I missense 0.00004942●●●●●●
120. 216269166 c.3199G>A p.V1067M missense 0.00004942●●●●●●
121. 216300395 c.131C>A p.A44D missense 0.00004346●●●●●●
122. 216257753 c.3970A>C p.T1324P missense 0.00004142●●●●●●
123. 216257813 c.3910G>A p.A1304T missense 0.00004142●●●●●●
124. 216279649 c.1852G>A p.E618K missense 0.00004128●●●●●●
125. 216240372 c.5957T>C p.V1986A missense 0.00004126●●●●●●
126. 216289991 c.862G>A p.D288N missense 0.00004123●●●●●●
127. 216259421 c.3626C>T p.T1209I missense 0.00004122●●●●●●
128. 216253015 c.4262C>G p.P1421R missense 0.00004120●●●●●●
129. 216256466 c.4141C>T p.P1381S missense 0.00004120●●●●●●
130. 216284027 c.1757A>G p.Q586R missense 0.00004120●●●●●●
131. 216253022 c.4255C>G p.L1419V missense 0.00004120●●●●●●
132. 216248779 c.4858G>A p.A1620T missense 0.00004119●●●●●●
133. 216236639 c.6707C>A p.P2236H missense 0.00004119●●●●●●
134. 216243878 c.5597C>T p.S1866L missense 0.00004119●●●●●●
135. 216269345 c.3020A>G p.N1007S missense 0.00004119●●●●●●
136. 216236897 c.6449G>A p.R2150Q missense 0.00004119●●●●●●
137. 216248758 c.4879A>G p.I1627V missense 0.00004119●●●●●●
138. 216232682 c.6922G>A p.V2308I missense 0.00004119●●●●●●
139. 216269216 c.3149A>G p.K1050R missense 0.00004118●●●●●●
140. 216269304 c.3061C>T p.R1021W missense 0.00004118●●●●●●
141. 216286924 c.1436G>T p.R479L missense 0.00004118●●●●●●
142. 216236685 c.6661T>G p.S2221A missense 0.00004118●●●●●●
143. 216300517 c.9G>C p.R3S missense 0.00004106●●●●●●
144. 216300439 c.87C>A p.S29R missense 0.00003894●●●●●●
145. 216229639 c.7214G>A p.G2405D missense 0.00003504●●●●●●
146. 216240111 c.5983G>A p.D1995N missense 0.00003386●●●●●●
147. 216247031 c.5068A>G p.I1690V missense 0.00003318●●●●●●
148. 216257896 c.3827T>C p.V1276A missense 0.00003315●●●●●●
149. 216279657 c.1844T>A p.F615Y missense 0.00003304●●●●●●
150. 216270967 c.2980A>G p.T994A missense 0.00003302●●●●●●
151. 216271134 c.2813G>A p.R938H missense 0.00003301●●●●●●
152. 216251421 c.4603C>A p.Q1535K missense 0.00003301●●●●●●
153. 216245551 c.5417T>C p.I1806T missense 0.00003300●●●●●●
154. 216251427 c.4597G>A p.G1533S missense 0.00003300●●●●●●
155. 216240384 c.5945G>A p.R1982Q missense 0.00003300●●●●●●
156. 216245566 c.5402A>T p.E1801V missense 0.00003298●●●●●●
157. 216292914 c.833C>G p.T278S missense 0.00003298●●●●●●
158. 216283976 c.1808A>G p.Q603R missense 0.00003298●●●●●●
159. 216289951 c.902A>T p.Q301L missense 0.00003297●●●●●●
160. 216262454 c.3466C>G p.L1156V missense 0.00003296●●●●●●
161. 216295526 c.597A>T p.E199D missense 0.00003296●●●●●●
162. 216256372 c.4235A>G p.N1412S missense 0.00003296●●●●●●
163. 216271068 c.2879C>G p.T960S missense 0.00003296●●●●●●
164. 216264039 c.3289G>A p.E1097K missense 0.00003296●●●●●●
165. 216256484 c.4123C>T p.R1375C missense 0.00003296●●●●●●
166. 216245759 c.5209G>A p.D1737N missense 0.00003296●●●●●●
167. 216286816 c.1544G>A p.R515Q missense 0.00003295●●●●●●
168. 216298050 c.412G>A p.A138T missense 0.00003295●●●●●●
169. 216274717 c.2062G>A p.G688S missense 0.00003295●●●●●●
170. 216248778 c.4859C>A p.A1620E missense 0.00003295●●●●●●
171. 216286924 c.1436G>C p.R479P missense 0.00003295●●●●●●
172. 216289012 c.1073A>G p.E358G missense 0.00003295●●●●●●
173. 216230302 c.7070G>A p.R2357H missense 0.00003295●●●●●●
174. 216248836 c.4801C>T p.P1601S missense 0.00003295●●●●●●
175. 216289019 c.1066A>C p.N356H missense 0.00003295●●●●●●
176. 216269216 c.3149A>C p.K1050T missense 0.00003295●●●●●●
177. 216269211 c.3154C>G p.P1052A missense 0.00003295●●●●●●
178. 216229658 c.7195T>C p.W2399R missense 0.00003061●●●●●●
179. 216300452 c.74G>A p.G25E missense 0.00003019●●●●●●
180. 216229670 c.7183G>A p.V2395I missense 0.00002898●●●●●●
181. 216274828 c.1951G>A p.V651I missense 0.00002866●●●●●●
182. 216229684 c.7169G>C p.G2390A missense 0.00002800●●●●●●
183. 216229685 c.7168G>A p.G2390R missense 0.00002794●●●●●●
184. 216274821 c.1958G>A p.R653H missense 0.00002698●●●●●●
185. 216300383 c.143G>A p.S48N missense 0.00002590●●●●●●
186. 216240113 c.5981T>C p.I1994T missense 0.00002572●●●●●●
187. 216257711 c.4012G>A p.V1338I missense 0.00002486●●●●●●
188. 216257836 c.3887T>C p.I1296T missense 0.00002485●●●●●●
189. 216242981 c.5627C>T p.A1876V missense 0.00002484●●●●●●
190. 216247012 c.5087C>T p.T1696I missense 0.00002483●●●●●●
191. 216271156 c.2791G>A p.E931K missense 0.00002480●●●●●●
192. 216240361 c.5968G>A p.A1990T missense 0.00002477●●●●●●
193. 216242963 c.5645G>A p.S1882N missense 0.00002476●●●●●●
194. 216271141 c.2806G>A p.G936S missense 0.00002476●●●●●●
195. 216240042 c.6052C>T p.R2018C missense 0.00002475●●●●●●
196. 216245551 c.5417T>A p.I1806N missense 0.00002475●●●●●●
197. 216251438 c.4586C>G p.P1529R missense 0.00002474●●●●●●
198. 216298142 c.320G>A p.R107Q missense 0.00002474●●●●●●
199. 216271096 c.2851G>A p.G951R missense 0.00002473●●●●●●
200. 216295530 c.593G>C p.G198A missense 0.00002473●●●●●●
201. 216241290 c.5818G>T p.V1940F missense 0.00002473●●●●●●
202. 216262561 c.3359G>A p.R1120Q missense 0.00002473●●●●●●
203. 216274427 c.2158C>T p.P720S missense 0.00002473●●●●●●
204. 216232706 c.6898C>T p.P2300S missense 0.00002472●●●●●●
205. 216289868 c.985A>C p.K329Q missense 0.00002472●●●●●●
206. 216241316 c.5792C>T p.T1931M missense 0.00002472●●●●●●
207. 216288079 c.1387A>G p.M463V missense 0.00002472●●●●●●
208. 216243938 c.5537G>A p.R1846Q missense 0.00002472●●●●●●
209. 216240027 c.6067G>A p.G2023S missense 0.00002472●●●●●●
210. 216256432 c.4175G>A p.R1392H missense 0.00002472●●●●●●
211. 216272920 c.2429C>T p.A810V missense 0.00002472●●●●●●
212. 216241359 c.5749A>G p.T1917A missense 0.00002472●●●●●●
213. 216271065 c.2882T>C p.F961S missense 0.00002472●●●●●●
214. 216288177 c.1289A>G p.N430S missense 0.00002472●●●●●●
215. 216284055 c.1729G>A p.E577K missense 0.00002472●●●●●●
216. 216288077 c.1389G>A p.M463I missense 0.00002472●●●●●●
217. 216256456 c.4151T>C p.I1384T missense 0.00002472●●●●●●
218. 216286876 c.1484G>A p.R495K missense 0.00002471●●●●●●
219. 216236639 c.6707C>T p.P2236L missense 0.00002471●●●●●●
220. 216226310 c.7402G>A p.V2468I missense 0.00002471●●●●●●
221. 216292998 c.749A>C p.D250A missense 0.00002471●●●●●●
222. 216236711 c.6635T>C p.I2212T missense 0.00002471●●●●●●
223. 216236759 c.6587T>G p.L2196R missense 0.00002471●●●●●●
224. 216271976 c.2587A>G p.N863D missense 0.00002471●●●●●●
225. 216239967 c.6127C>T p.R2043C missense 0.00002471●●●●●●
226. 216288099 c.1367A>G p.Q456R missense 0.00002471●●●●●●
227. 216236765 c.6581C>A p.P2194Q missense 0.00002471●●●●●●
228. 216285422 c.1649G>A p.R550Q missense 0.00002471●●●●●●
229. 216286924 c.1436G>A p.R479H missense 0.00002471●●●●●●
230. 216236736 c.6610C>G p.Q2204E missense 0.00002471●●●●●●
231. 216239972 c.6122G>A p.R2041Q missense 0.00002471●●●●●●
232. 216300497 c.29T>C p.L10P missense 0.00002441●●●●●●
233. 216300443 c.83A>T p.K28M missense 0.00001948●●●●●●
234. 216298184 c.278C>A p.A93D missense 0.00001794●●●●●●
235. 216300395 c.131C>T p.A44V missense 0.00001739●●●●●●
236. 216240101 c.5993C>T p.S1998F missense 0.00001661●●●●●●
237. 216251568 c.4456G>A p.E1486K missense 0.00001658●●●●●●
238. 216257734 c.3989C>T p.P1330L missense 0.00001657●●●●●●
239. 216257755 c.3968A>G p.Y1323C missense 0.00001657●●●●●●
240. 216257885 c.3838G>A p.D1280N missense 0.00001657●●●●●●
241. 216240092 c.6002G>A p.R2001H missense 0.00001654●●●●●●
242. 216271161 c.2786C>T p.P929L missense 0.00001654●●●●●●
243. 216237081 c.6265G>A p.V2089I missense 0.00001653●●●●●●
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732. 216232679 c.6925G>A p.G2309R missense 0.00000824●●●●●●
733. 216283985 c.1799A>C p.Q600P missense 0.00000824●●●●●●
734. 216272026 c.2537C>T p.S846L missense 0.00000824●●●●●●
735. 216236922 c.6424A>C p.I2142L missense 0.00000824●●●●●●
736. 216230338 c.7034A>G p.N2345S missense 0.00000824●●●●●●
737. 216271981 c.2582C>G p.T861S missense 0.00000824●●●●●●
738. 216269192 c.3173C>G p.P1058R missense 0.00000824●●●●●●
739. 216236808 c.6538A>G p.I2180V missense 0.00000824●●●●●●
740. 216295467 c.656G>C p.G219A missense 0.00000824●●●●●●
741. 216236786 c.6560A>G p.Y2187C missense 0.00000824●●●●●●
742. 216286888 c.1472G>T p.G491V missense 0.00000824●●●●●●
743. 216262558 c.3362C>A p.P1121Q missense 0.00000824●●●●●●
744. 216295524 c.599C>T p.T200M missense 0.00000824●●●●●●
745. 216259404 c.3643G>A p.G1215S missense 0.00000824●●●●●●
746. 216284042 c.1742A>G p.H581R missense 0.00000824●●●●●●
747. 216271102 c.2845G>A p.E949K missense 0.00000824●●●●●●
748. 216261940 c.3524C>A p.S1175Y missense 0.00000824●●●●●●
749. 216248904 c.4733G>C p.G1578A missense 0.00000824●●●●●●
750. 216299425 c.271C>T p.P91S missense 0.00000824●●●●●●
751. 216292986 c.761A>G p.N254S missense 0.00000824●●●●●●
752. 216243992 c.5483G>C p.S1828T missense 0.00000824●●●●●●
753. 216240020 c.6074T>A p.I2025N missense 0.00000824●●●●●●
754. 216292940 c.807G>C p.K269N missense 0.00000824●●●●●●
755. 216286831 c.1529C>G p.A510G missense 0.00000824●●●●●●
756. 216236690 c.6656A>C p.D2219A missense 0.00000824●●●●●●
757. 216296636 c.467G>C p.R156T missense 0.00000824●●●●●●
758. 216298130 c.332C>T p.T111I missense 0.00000824●●●●●●
759. 216253024 c.4253A>G p.N1418S missense 0.00000824●●●●●●
760. 216238119 c.6173C>T p.T2058I missense 0.00000824●●●●●●
761. 216298109 c.353C>G p.S118C missense 0.00000824●●●●●●
762. 216289921 c.932A>T p.D311V missense 0.00000824●●●●●●
763. 216238083 c.6209A>G p.N2070S missense 0.00000824●●●●●●
764. 216235091 c.6779A>T p.N2260I missense 0.00000824●●●●●●
765. 216269367 c.2998C>T p.P1000S missense 0.00000824●●●●●●
766. 216256409 c.4198G>A p.E1400K missense 0.00000824●●●●●●
767. 216230336 c.7036G>A p.G2346S missense 0.00000824●●●●●●
768. 216288947 c.1138C>A p.Q380K missense 0.00000824●●●●●●
769. 216284058 c.1726T>C p.W576R missense 0.00000824●●●●●●
770. 216272891 c.2458G>A p.D820N missense 0.00000824●●●●●●
771. 216241373 c.5735G>C p.R1912P missense 0.00000824●●●●●●
772. 216272843 c.2506G>T p.A836S missense 0.00000824●●●●●●
773. 216284039 c.1745G>C p.G582A missense 0.00000824●●●●●●
774. 216272866 c.2483T>A p.V828D missense 0.00000824●●●●●●
775. 216269244 c.3121C>A p.Q1041K missense 0.00000824●●●●●●
776. 216239973 c.6121C>T p.R2041W missense 0.00000824●●●●●●
777. 216271938 c.2625G>C p.Q875H missense 0.00000824●●●●●●
778. 216248902 c.4735A>G p.N1579D missense 0.00000824●●●●●●
779. 216251501 c.4523A>G p.N1508S missense 0.00000824●●●●●●
780. 216241251 c.5857A>G p.K1953E missense 0.00000824●●●●●●
781. 216248767 c.4870C>T p.P1624S missense 0.00000824●●●●●●
782. 216295540 c.583T>C p.Y195H missense 0.00000824●●●●●●
783. 216288139 c.1327A>T p.M443L missense 0.00000824●●●●●●
784. 216236865 c.6481A>G p.R2161G missense 0.00000824●●●●●●
785. 216230296 c.7076G>T p.G2359V 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.