FBN1 missense variants in ExAC

FBN1 gene summary
FBN1 variants in

The table below lists the FBN1 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. 48807637 c.1415G>A p.C472Y missense 1.00000000●●●●●●
2. 48779530 c.3442C>G p.P1148A missense 0.02880448●●●●●●
3. 48722907 c.6832C>T p.P2278S missense 0.00334801●●●●●●
4. 48818329 c.986T>C p.I329T missense 0.00229014●●●●●●
5. 48782174 c.2956G>A p.A986T missense 0.00150779●●●●●●
6. 48779352 c.3509G>A p.R1170H missense 0.00117059●●●●●●
7. 48773926 c.3890A>G p.E1297G missense 0.00084045●●●●●●
8. 48725102 c.6700G>A p.V2234M missense 0.00079128●●●●●●
9. 48704816 c.8176C>T p.R2726W missense 0.00073305●●●●●●
10. 48779550 c.3422C>T p.P1141L missense 0.00072480●●●●●●
11. 48764778 c.4306G>A p.V1436M missense 0.00070845●●●●●●
12. 48720553 c.6987C>G p.D2329E missense 0.00061048●●●●●●
13. 48782053 c.3077T>C p.F1026S missense 0.00047267●●●●●●
14. 48782072 c.3058A>G p.T1020A missense 0.00046324●●●●●●
15. 48734008 c.6073G>T p.A2025S missense 0.00046221●●●●●●
16. 48936888 c.79G>A p.A27T missense 0.00043662●●●●●●
17. 48782196 c.2934C>G p.D978E missense 0.00042038●●●●●●
18. 48704807 c.8185A>C p.K2729Q missense 0.00036241●●●●●●
19. 48762849 c.4441A>G p.S1481G missense 0.00033776●●●●●●
20. 48707820 c.7964C>T p.A2655V missense 0.00032951●●●●●●
21. 48780684 c.3089A>G p.N1030S missense 0.00028062●●●●●●
22. 48719896 c.7072G>A p.V2358I missense 0.00024788●●●●●●
23. 48773920 c.3896C>T p.T1299M missense 0.00024719●●●●●●
24. 48707932 c.7852G>A p.G2618R missense 0.00024719●●●●●●
25. 48784759 c.2753C>G p.P918R missense 0.00022275●●●●●●
26. 48729976 c.6302C>T p.T2101M missense 0.00019878●●●●●●
27. 48764814 c.4270C>G p.P1424A missense 0.00018122●●●●●●
28. 48703261 c.8542A>C p.K2848Q missense 0.00017326●●●●●●
29. 48758053 c.4750G>A p.E1584K missense 0.00016954●●●●●●
30. 48818413 c.902G>T p.G301V missense 0.00016477●●●●●●
31. 48713793 c.7661G>A p.R2554Q missense 0.00015743●●●●●●
32. 48722907 c.6832C>G p.P2278A missense 0.00015668●●●●●●
33. 48812976 c.1027G>A p.G343R missense 0.00015661●●●●●●
34. 48704843 c.8149G>A p.E2717K missense 0.00015649●●●●●●
35. 48936908 c.59A>G p.Y20C missense 0.00014840●●●●●●
36. 48782203 c.2927G>A p.R976H missense 0.00014015●●●●●●
37. 48733971 c.6110A>G p.K2037R missense 0.00013191●●●●●●
38. 48734029 c.6052G>A p.V2018I missense 0.00012405●●●●●●
39. 48717673 c.7346A>G p.N2449S missense 0.00012383●●●●●●
40. 48776113 c.3740A>T p.N1247I missense 0.00012368●●●●●●
41. 48734037 c.6044A>T p.D2015V missense 0.00011589●●●●●●
42. 48703440 c.8363C>T p.T2788M missense 0.00010708●●●●●●
43. 48776056 c.3797A>T p.Y1266F missense 0.00009892●●●●●●
44. 48777678 c.3605G>A p.S1202N missense 0.00009890●●●●●●
45. 48826400 c.739G>A p.V247M missense 0.00009090●●●●●●
46. 48787397 c.2600A>G p.N867S missense 0.00009076●●●●●●
47. 48722894 c.6845G>A p.R2282Q missense 0.00009068●●●●●●
48. 48741063 c.5573A>G p.N1858S missense 0.00008341●●●●●●
49. 48808442 c.1265G>A p.G422E missense 0.00008262●●●●●●
50. 48760155 c.4727T>C p.M1576T missense 0.00008237●●●●●●
51. 48796041 c.2056G>A p.A686T missense 0.00008237●●●●●●
52. 48892425 c.353A>G p.H118R missense 0.00007438●●●●●●
53. 48714203 c.7516G>A p.G2506S missense 0.00007424●●●●●●
54. 48773971 c.3845A>G p.N1282S missense 0.00007423●●●●●●
55. 48717640 c.7379A>G p.K2460R missense 0.00007419●●●●●●
56. 48782104 c.3026C>G p.P1009R missense 0.00007417●●●●●●
57. 48808549 c.1158C>G p.N386K missense 0.00006720●●●●●●
58. 48779347 c.3514G>A p.V1172M missense 0.00006596●●●●●●
59. 48707938 c.7846A>G p.I2616V missense 0.00006594●●●●●●
60. 48936884 c.83A>G p.N28S missense 0.00006590●●●●●●
61. 48704803 c.8189G>A p.R2730Q missense 0.00006589●●●●●●
62. 48779286 c.3575G>A p.R1192K missense 0.00005912●●●●●●
63. 48905269 c.185G>A p.R62H missense 0.00005839●●●●●●
64. 48807707 c.1345G>A p.V449I missense 0.00005797●●●●●●
65. 48784766 c.2746G>A p.V916M missense 0.00005782●●●●●●
66. 48737648 c.5842A>G p.I1948V missense 0.00005776●●●●●●
67. 48714190 c.7529A>G p.K2510R missense 0.00005774●●●●●●
68. 48764771 c.4313G>A p.S1438N missense 0.00005766●●●●●●
69. 48704921 c.8071G>A p.G2691S missense 0.00005766●●●●●●
70. 48703492 c.8311G>A p.V2771I missense 0.00005766●●●●●●
71. 48808391 c.1316G>A p.R439Q missense 0.00004969●●●●●●
72. 48718056 c.7210G>A p.D2404N missense 0.00004963●●●●●●
73. 48779358 c.3503A>G p.N1168S missense 0.00004946●●●●●●
74. 48707758 c.8026C>T p.P2676S missense 0.00004945●●●●●●
75. 48707757 c.8027C>T p.P2676L missense 0.00004945●●●●●●
76. 48782180 c.2950G>A p.V984I missense 0.00004944●●●●●●
77. 48818344 c.971A>T p.D324V missense 0.00004943●●●●●●
78. 48764763 c.4321G>A p.G1441R missense 0.00004943●●●●●●
79. 48779526 c.3446A>G p.N1149S missense 0.00004942●●●●●●
80. 48936843 c.124G>C p.A42P missense 0.00004942●●●●●●
81. 48797326 c.1856C>A p.T619N missense 0.00004942●●●●●●
82. 48808538 c.1169C>T p.S390F missense 0.00004186●●●●●●
83. 48756162 c.4999G>A p.V1667I missense 0.00004150●●●●●●
84. 48739017 c.5674A>G p.I1892V missense 0.00004137●●●●●●
85. 48714264 c.7455T>G p.D2485E missense 0.00004137●●●●●●
86. 48802342 c.1613G>A p.G538D missense 0.00004131●●●●●●
87. 48808430 c.1277C>T p.P426L missense 0.00004130●●●●●●
88. 48800869 c.1747C>T p.L583F missense 0.00004130●●●●●●
89. 48807635 c.1417C>T p.R473W missense 0.00004125●●●●●●
90. 48812916 c.1087G>A p.G363S missense 0.00004123●●●●●●
91. 48764870 c.4214T>G p.L1405R missense 0.00004120●●●●●●
92. 48782114 c.3016G>A p.E1006K missense 0.00004120●●●●●●
93. 48936891 c.76G>C p.D26H missense 0.00004119●●●●●●
94. 48703504 c.8299A>G p.N2767D missense 0.00004119●●●●●●
95. 48707881 c.7903G>A p.A2635T missense 0.00004119●●●●●●
96. 48704923 c.8069T>G p.M2690R missense 0.00004118●●●●●●
97. 48704815 c.8177G>A p.R2726Q missense 0.00004118●●●●●●
98. 48756126 c.5035A>C p.M1679L missense 0.00003434●●●●●●
99. 48808532 c.1175C>G p.P392R missense 0.00003345●●●●●●
100. 48741054 c.5582G>A p.S1861N missense 0.00003333●●●●●●
101. 48741040 c.5596A>G p.I1866V missense 0.00003329●●●●●●
102. 48762948 c.4342G>A p.D1448N missense 0.00003326●●●●●●
103. 48892428 c.350A>G p.Q117R missense 0.00003306●●●●●●
104. 48818452 c.863A>G p.D288G missense 0.00003304●●●●●●
105. 48766512 c.4150A>G p.M1384V missense 0.00003303●●●●●●
106. 48722956 c.6783A>C p.K2261N missense 0.00003303●●●●●●
107. 48719869 c.7099G>A p.G2367R missense 0.00003302●●●●●●
108. 48776135 c.3718G>A p.D1240N missense 0.00003301●●●●●●
109. 48736812 c.5963C>T p.T1988I missense 0.00003299●●●●●●
110. 48722895 c.6844C>T p.R2282W missense 0.00003298●●●●●●
111. 48718005 c.7261G>A p.D2421N missense 0.00003298●●●●●●
112. 48707785 c.7999G>A p.E2667K missense 0.00003297●●●●●●
113. 48744840 c.5464G>A p.A1822T missense 0.00003297●●●●●●
114. 48725093 c.6709G>A p.V2237M missense 0.00003297●●●●●●
115. 48776068 c.3785G>A p.R1262K missense 0.00003297●●●●●●
116. 48812946 c.1057A>G p.I353V missense 0.00003297●●●●●●
117. 48703503 c.8300A>G p.N2767S missense 0.00003295●●●●●●
118. 48780421 c.3226A>C p.I1076L missense 0.00003295●●●●●●
119. 48780421 c.3226A>G p.I1076V missense 0.00003295●●●●●●
120. 48704813 c.8179G>A p.G2727S missense 0.00003295●●●●●●
121. 48717568 c.7451A>G p.K2484R missense 0.00003295●●●●●●
122. 48741033 c.5603C>T p.T1868I missense 0.00002496●●●●●●
123. 48786446 c.2683A>G p.I895V missense 0.00002496●●●●●●
124. 48786418 c.2711A>G p.K904R missense 0.00002491●●●●●●
125. 48808487 c.1220G>A p.G407D missense 0.00002490●●●●●●
126. 48808472 c.1235T>A p.V412D missense 0.00002484●●●●●●
127. 48712976 c.7727G>A p.R2576H missense 0.00002482●●●●●●
128. 48807682 c.1370G>A p.R457H missense 0.00002480●●●●●●
129. 48729227 c.6427A>T p.I2143F missense 0.00002478●●●●●●
130. 48807592 c.1460A>C p.E487A missense 0.00002478●●●●●●
131. 48729193 c.6461C>T p.P2154L missense 0.00002478●●●●●●
132. 48782087 c.3043G>A p.A1015T missense 0.00002477●●●●●●
133. 48892419 c.359A>G p.N120S missense 0.00002477●●●●●●
134. 48766499 c.4163G>A p.R1388H missense 0.00002477●●●●●●
135. 48829846 c.698G>A p.R233H missense 0.00002477●●●●●●
136. 48714237 c.7482C>A p.H2494Q missense 0.00002476●●●●●●
137. 48760623 c.4568G>A p.R1523Q missense 0.00002476●●●●●●
138. 48718047 c.7219A>G p.K2407E missense 0.00002476●●●●●●
139. 48800790 c.1826G>A p.R609H missense 0.00002475●●●●●●
140. 48714160 c.7559C>T p.T2520M missense 0.00002475●●●●●●
141. 48720608 c.6932G>A p.R2311H missense 0.00002475●●●●●●
142. 48826376 c.763G>A p.G255R missense 0.00002475●●●●●●
143. 48703279 c.8524C>T p.L2842F missense 0.00002474●●●●●●
144. 48720650 c.6890C>T p.T2297M missense 0.00002474●●●●●●
145. 48718025 c.7241G>A p.R2414Q missense 0.00002474●●●●●●
146. 48726806 c.6601A>G p.M2201V missense 0.00002474●●●●●●
147. 48726830 c.6577G>A p.E2193K missense 0.00002474●●●●●●
148. 48725074 c.6728G>A p.R2243K missense 0.00002473●●●●●●
149. 48805763 c.1571C>T p.T524M missense 0.00002473●●●●●●
150. 48829924 c.620C>T p.T207M missense 0.00002473●●●●●●
151. 48725077 c.6725G>A p.R2242H missense 0.00002473●●●●●●
152. 48722880 c.6859G>C p.E2287Q missense 0.00002473●●●●●●
153. 48782200 c.2930T>G p.M977R missense 0.00002473●●●●●●
154. 48818430 c.885T>G p.I295M missense 0.00002472●●●●●●
155. 48826345 c.794C>T p.T265I missense 0.00002472●●●●●●
156. 48784721 c.2791G>A p.G931R missense 0.00002472●●●●●●
157. 48757812 c.4895G>A p.R1632H missense 0.00002472●●●●●●
158. 48717619 c.7400A>G p.Q2467R missense 0.00002472●●●●●●
159. 48780423 c.3224G>A p.R1075H missense 0.00002472●●●●●●
160. 48703308 c.8495G>A p.S2832N missense 0.00002472●●●●●●
161. 48892336 c.442C>T p.P148S missense 0.00002472●●●●●●
162. 48773938 c.3878G>A p.S1293N missense 0.00002472●●●●●●
163. 48797302 c.1880G>A p.R627H missense 0.00002471●●●●●●
164. 48780576 c.3197G>C p.R1066T missense 0.00002471●●●●●●
165. 48704773 c.8219A>G p.N2740S missense 0.00002471●●●●●●
166. 48755323 c.5180G>A p.R1727Q missense 0.00002471●●●●●●
167. 48779517 c.3455C>T p.A1152V missense 0.00002471●●●●●●
168. 48760242 c.4640C>T p.T1547I missense 0.00002471●●●●●●
169. 48764807 c.4277G>C p.G1426A missense 0.00002471●●●●●●
170. 48779562 c.3410G>A p.R1137H missense 0.00002471●●●●●●
171. 48777595 c.3688A>C p.M1230L missense 0.00002471●●●●●●
172. 48756098 c.5063T>C p.M1688T missense 0.00002265●●●●●●
173. 48713794 c.7660C>T p.R2554W missense 0.00001746●●●●●●
174. 48936959 c.8G>C p.R3P missense 0.00001710●●●●●●
175. 48903015 c.256C>T p.R86W missense 0.00001681●●●●●●
176. 48784777 c.2735A>G p.D912G missense 0.00001677●●●●●●
177. 48740988 c.5648A>G p.N1883S missense 0.00001666●●●●●●
178. 48779296 c.3565A>G p.T1189A missense 0.00001664●●●●●●
179. 48936936 c.31C>G p.L11V missense 0.00001661●●●●●●
180. 48713001 c.7702G>A p.V2568M missense 0.00001658●●●●●●
181. 48719917 c.7051G>A p.G2351S missense 0.00001656●●●●●●
182. 48734040 c.6041T>C p.I2014T missense 0.00001656●●●●●●
183. 48787771 c.2434G>A p.E812K missense 0.00001656●●●●●●
184. 48719918 c.7050C>G p.I2350M missense 0.00001656●●●●●●
185. 48936929 c.38T>G p.F13C missense 0.00001655●●●●●●
186. 48748945 c.5311C>T p.R1771W missense 0.00001654●●●●●●
187. 48748944 c.5312G>A p.R1771Q missense 0.00001654●●●●●●
188. 48802351 c.1604T>C p.L535S missense 0.00001654●●●●●●
189. 48729169 c.6485A>G p.N2162S missense 0.00001653●●●●●●
190. 48892427 c.351A>T p.Q117H missense 0.00001653●●●●●●
191. 48729181 c.6473T>G p.I2158S missense 0.00001653●●●●●●
192. 48757999 c.4804G>A p.V1602I missense 0.00001653●●●●●●
193. 48829828 c.716T>C p.I239T missense 0.00001653●●●●●●
194. 48802340 c.1615C>T p.R539W missense 0.00001652●●●●●●
195. 48729206 c.6448C>T p.R2150C missense 0.00001652●●●●●●
196. 48808418 c.1289C>T p.P430L missense 0.00001652●●●●●●
197. 48787450 c.2547C>G p.I849M missense 0.00001652●●●●●●
198. 48808421 c.1286G>A p.R429Q missense 0.00001652●●●●●●
199. 48802279 c.1676C>T p.A559V missense 0.00001651●●●●●●
200. 48762932 c.4358C>T p.P1453L missense 0.00001651●●●●●●
201. 48703252 c.8551A>G p.K2851E missense 0.00001651●●●●●●
202. 48902969 c.302C>T p.T101I missense 0.00001651●●●●●●
203. 48737608 c.5882G>T p.G1961V missense 0.00001651●●●●●●
204. 48717673 c.7346A>T p.N2449I missense 0.00001651●●●●●●
205. 48722920 c.6819G>A p.M2273I missense 0.00001650●●●●●●
206. 48736821 c.5954C>T p.A1985V missense 0.00001650●●●●●●
207. 48714152 c.7567A>C p.I2523L missense 0.00001650●●●●●●
208. 48714218 c.7501G>C p.V2501L missense 0.00001650●●●●●●
209. 48829943 c.601G>A p.G201R missense 0.00001650●●●●●●
210. 48812886 c.1117G>A p.A373T missense 0.00001650●●●●●●
211. 48722921 c.6818T>C p.M2273T missense 0.00001650●●●●●●
212. 48725179 c.6623A>G p.N2208S missense 0.00001650●●●●●●
213. 48892408 c.370A>G p.M124V missense 0.00001650●●●●●●
214. 48736798 c.5977G>A p.D1993N missense 0.00001650●●●●●●
215. 48777691 c.3592A>G p.I1198V missense 0.00001650●●●●●●
216. 48757875 c.4832A>G p.Q1611R missense 0.00001649●●●●●●
217. 48805772 c.1562G>A p.S521N missense 0.00001649●●●●●●
218. 48744861 c.5443G>A p.G1815S missense 0.00001649●●●●●●
219. 48779338 c.3523A>G p.I1175V missense 0.00001649●●●●●●
220. 48719797 c.7171C>T p.P2391S missense 0.00001649●●●●●●
221. 48744863 c.5441A>G p.N1814S missense 0.00001649●●●●●●
222. 48813008 c.995G>A p.R332H missense 0.00001649●●●●●●
223. 48888551 c.467A>G p.N156S missense 0.00001649●●●●●●
224. 48736750 c.6025G>A p.E2009K missense 0.00001649●●●●●●
225. 48776030 c.3823A>C p.M1275L missense 0.00001649●●●●●●
226. 48725078 c.6724C>T p.R2242C missense 0.00001649●●●●●●
227. 48888552 c.466A>C p.N156H missense 0.00001649●●●●●●
228. 48789559 c.2197A>G p.I733V missense 0.00001649●●●●●●
229. 48744855 c.5449G>A p.V1817M missense 0.00001649●●●●●●
230. 48718035 c.7231G>A p.D2411N missense 0.00001649●●●●●●
231. 48760650 c.4541C>T p.P1514L missense 0.00001649●●●●●●
232. 48726806 c.6601A>T p.M2201L missense 0.00001649●●●●●●
233. 48782209 c.2921G>A p.R974H missense 0.00001649●●●●●●
234. 48829901 c.643C>G p.R215G missense 0.00001649●●●●●●
235. 48719787 c.7181G>A p.R2394Q missense 0.00001649●●●●●●
236. 48818335 c.980G>C p.R327T missense 0.00001648●●●●●●
237. 48760260 c.4622G>A p.R1541Q missense 0.00001648●●●●●●
238. 48757794 c.4913A>G p.Y1638C missense 0.00001648●●●●●●
239. 48764756 c.4328C>T p.A1443V missense 0.00001648●●●●●●
240. 48818345 c.970G>A p.D324N missense 0.00001648●●●●●●
241. 48789466 c.2290G>A p.V764I missense 0.00001648●●●●●●
242. 48707936 c.7848C>G p.I2616M missense 0.00001648●●●●●●
243. 48744794 c.5510C>G p.P1837R missense 0.00001648●●●●●●
244. 48782195 c.2935G>A p.A979T missense 0.00001648●●●●●●
245. 48826343 c.796G>A p.V266I missense 0.00001648●●●●●●
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495. 48755354 c.5149A>C p.K1717Q missense 0.00000824●●●●●●
496. 48704791 c.8201A>C p.N2734T missense 0.00000824●●●●●●
497. 48779569 c.3403A>G p.S1135G missense 0.00000824●●●●●●
498. 48764834 c.4250A>G p.N1417S missense 0.00000824●●●●●●
499. 48780313 c.3334A>T p.M1112L missense 0.00000824●●●●●●
500. 48704912 c.8080C>G p.R2694G missense 0.00000824●●●●●●
501. 48777679 c.3604A>G p.S1202G missense 0.00000824●●●●●●
502. 48762870 c.4420A>C p.I1474L missense 0.00000824●●●●●●
503. 48766811 c.4001G>A p.G1334D missense 0.00000824●●●●●●
504. 48777631 c.3652A>G p.S1218G missense 0.00000824●●●●●●
505. 48936906 c.61A>G p.T21A missense 0.00000824●●●●●●
506. 48818368 c.947C>A p.P316H missense 0.00000824●●●●●●
507. 48725143 c.6659G>A p.R2220Q missense 0.00000824●●●●●●
508. 48717636 c.7383C>G p.N2461K missense 0.00000824●●●●●●
509. 48703476 c.8327G>A p.R2776Q missense 0.00000824●●●●●●
510. 48773911 c.3905C>T p.S1302L missense 0.00000824●●●●●●
511. 48888527 c.491A>G p.N164S missense 0.00000824●●●●●●
512. 48812999 c.1004A>G p.Y335C missense 0.00000824●●●●●●
513. 48812960 c.1043A>G p.Q348R missense 0.00000824●●●●●●
514. 48796125 c.1972C>T p.R658W missense 0.00000824●●●●●●
515. 48773939 c.3877A>C p.S1293R missense 0.00000824●●●●●●
516. 48707880 c.7904C>T p.A2635V missense 0.00000824●●●●●●
517. 48936863 c.104A>G p.K35R missense 0.00000824●●●●●●
518. 48780650 c.3123C>A p.H1041Q missense 0.00000824●●●●●●
519. 48766778 c.4034G>A p.S1345N missense 0.00000824●●●●●●
520. 48826312 c.827G>A p.G276E missense 0.00000824●●●●●●
521. 48780592 c.3181C>G p.L1061V missense 0.00000824●●●●●●
522. 48755411 c.5092A>G p.N1698D missense 0.00000824●●●●●●
523. 48784739 c.2773C>G p.L925V missense 0.00000824●●●●●●
524. 48704891 c.8101G>A p.V2701I missense 0.00000824●●●●●●
525. 48762886 c.4404C>G p.F1468L missense 0.00000824●●●●●●
526. 48826324 c.815A>G p.K272R missense 0.00000824●●●●●●
527. 48718001 c.7265G>A p.R2422K missense 0.00000824●●●●●●
528. 48704768 c.8224G>A p.E2742K missense 0.00000824●●●●●●
529. 48805761 c.1573C>G p.R525G missense 0.00000824●●●●●●
530. 48779557 c.3415G>C p.E1139Q missense 0.00000824●●●●●●
531. 48936840 c.127A>G p.K43E missense 0.00000824●●●●●●
532. 48703341 c.8462A>G p.K2821R missense 0.00000824●●●●●●
533. 48936813 c.154G>A p.A52T missense 0.00000824●●●●●●
534. 48818339 c.976A>G p.T326A missense 0.00000824●●●●●●
535. 48760266 c.4616G>A p.R1539Q missense 0.00000824●●●●●●
536. 48760204 c.4678G>C p.A1560P missense 0.00000824●●●●●●
537. 48796004 c.2093C>T p.P698L missense 0.00000824●●●●●●
538. 48788335 c.2381A>C p.K794T missense 0.00000824●●●●●●
539. 48791196 c.2153C>T p.T718M missense 0.00000824●●●●●●
540. 48782135 c.2995A>G p.R999G missense 0.00000824●●●●●●
541. 48812972 c.1031G>T p.R344L missense 0.00000824●●●●●●
542. 48730108 c.6170G>A p.R2057Q missense 0.00000824●●●●●●
543. 48757801 c.4906G>A p.G1636S missense 0.00000824●●●●●●
544. 48780568 c.3205A>G p.T1069A missense 0.00000824●●●●●●
545. 48755380 c.5123G>A p.G1708E missense 0.00000824●●●●●●
546. 48707799 c.7985G>T p.G2662V missense 0.00000824●●●●●●
547. 48788400 c.2316C>G p.N772K missense 0.00000824●●●●●●
548. 48707745 c.8039G>A p.R2680H missense 0.00000824●●●●●●
549. 48805774 c.1560G>C p.Q520H missense 0.00000824●●●●●●
550. 48764790 c.4294G>A p.D1432N missense 0.00000824●●●●●●
551. 48733971 c.6110A>C p.K2037T missense 0.00000824●●●●●●
552. 48704851 c.8141C>G p.A2714G missense 0.00000824●●●●●●
553. 48704792 c.8200A>G p.N2734D missense 0.00000824●●●●●●
554. 48764781 c.4303T>C p.F1435L missense 0.00000824●●●●●●
555. 48779577 c.3395C>T p.T1132I missense 0.00000824●●●●●●
556. 48764837 c.4247G>T p.G1416V missense 0.00000824●●●●●●
557. 48748876 c.5380C>T p.P1794S missense 0.00000824●●●●●●
558. 48725095 c.6707A>T p.Y2236F missense 0.00000824●●●●●●
559. 48703477 c.8326C>G p.R2776G missense 0.00000824●●●●●●
560. 48784726 c.2786C>T p.T929I missense 0.00000824●●●●●●
561. 48762879 c.4411G>A p.E1471K missense 0.00000824●●●●●●
562. 48704908 c.8084G>A p.G2695E missense 0.00000824●●●●●●
563. 48703309 c.8494A>G p.S2832G missense 0.00000824●●●●●●
564. 48744771 c.5533G>C p.G1845R missense 0.00000824●●●●●●
565. 48773962 c.3854A>G p.D1285G missense 0.00000824●●●●●●
566. 48760251 c.4631A>G p.N1544S missense 0.00000824●●●●●●
567. 48755434 c.5069T>G p.M1690R missense 0.00000824●●●●●●
568. 48760146 c.4736C>T p.A1579V missense 0.00000824●●●●●●
569. 48812973 c.1030C>T p.R344C missense 0.00000824●●●●●●
570. 48796133 c.1964C>G p.T655R missense 0.00000824●●●●●●
571. 48796007 c.2090A>G p.Q697R missense 0.00000824●●●●●●
572. 48766794 c.4018A>G p.T1340A missense 0.00000824●●●●●●
573. 48780325 c.3322A>T p.M1108L missense 0.00000824●●●●●●
574. 48704894 c.8098C>T p.P2700S missense 0.00000824●●●●●●
575. 48780673 c.3100A>G p.M1034V missense 0.00000824●●●●●●
576. 48757794 c.4913A>C p.Y1638S missense 0.00000824●●●●●●
577. 48779533 c.3439T>A p.S1147T missense 0.00000824●●●●●●
578. 48744840 c.5464G>T p.A1822S missense 0.00000824●●●●●●
579. 48826325 c.814A>C p.K272Q missense 0.00000824●●●●●●
580. 48704782 c.8210A>G p.D2737G missense 0.00000824●●●●●●
581. 48779562 c.3410G>T p.R1137L missense 0.00000824●●●●●●
582. 48936877 c.90G>T p.E30D missense 0.00000824●●●●●●
583. 48818362 c.953G>T p.G318V missense 0.00000824●●●●●●
584. 48725116 c.6686A>G p.E2229G missense 0.00000824●●●●●●
585. 48717628 c.7391G>A p.G2464E missense 0.00000824●●●●●●
586. 48703440 c.8363C>G p.T2788R missense 0.00000824●●●●●●
587. 48703305 c.8498G>A p.S2833N missense 0.00000824●●●●●●
588. 48936828 c.139G>A p.G47S missense 0.00000824●●●●●●
589. 48818341 c.974G>C p.G325A missense 0.00000824●●●●●●
590. 48703299 c.8504C>T p.P2835L missense 0.00000824●●●●●●
591. 48766737 c.4075A>G p.I1359V missense 0.00000824●●●●●●
592. 48777594 c.3689T>C p.M1230T missense 0.00000824●●●●●●
593. 48812943 c.1060A>G p.T354A missense 0.00000824●●●●●●
594. 48796019 c.2078G>A p.G693E missense 0.00000824●●●●●●
595. 48782201 c.2929A>G p.M977V missense 0.00000824●●●●●●
596. 48782138 c.2992A>T p.M998L missense 0.00000824●●●●●●
597. 48788339 c.2377C>T p.P793S missense 0.00000824●●●●●●
598. 48780574 c.3199A>T p.N1067Y missense 0.00000824●●●●●●
599. 48797297 c.1885G>A p.V629I missense 0.00000824●●●●●●
600. 48755324 c.5179C>T p.R1727W missense 0.00000824●●●●●●
601. 48707808 c.7976G>A p.C2659Y missense 0.00000824●●●●●●
602. 48826315 c.824C>A p.A275D missense 0.00000824●●●●●●
603. 48788402 c.2314A>C p.N772H missense 0.00000824●●●●●●
604. 48780603 c.3170G>A p.S1057N missense 0.00000824●●●●●●
605. 48704932 c.8060T>C p.V2687A missense 0.00000824●●●●●●
606. 48748843 c.5413G>A p.V1805I missense 0.00000824●●●●●●
607. 48704852 c.8140G>C p.A2714P missense 0.00000824●●●●●●
608. 48748855 c.5401G>A p.D1801N missense 0.00000824●●●●●●
609. 48779583 c.3389A>G p.H1130R missense 0.00000824●●●●●●
610. 48764863 c.4221G>C p.E1407D missense 0.00000824●●●●●●
611. 48703516 c.8287A>G p.I2763V missense 0.00000824●●●●●●
612. 48818402 c.913A>G p.T305A missense 0.00000824●●●●●●
613. 48703489 c.8314A>G p.S2772G missense 0.00000824●●●●●●
614. 48707814 c.7970C>T p.A2657V missense 0.00000824●●●●●●
615. 48784727 c.2785A>G p.T929A missense 0.00000824●●●●●●
616. 48744821 c.5483C>A p.A1828E missense 0.00000824●●●●●●
617. 48744773 c.5531C>G p.T1844R missense 0.00000824●●●●●●
618. 48797260 c.1922C>T p.P641L missense 0.00000824●●●●●●
619. 48760252 c.4630A>C p.N1544H missense 0.00000824●●●●●●
620. 48760216 c.4666G>A p.G1556S missense 0.00000824●●●●●●
621. 48717589 c.7430A>G p.Q2477R missense 0.00000824●●●●●●
622. 48818334 c.981A>T p.R327S missense 0.00000824●●●●●●
623. 48757779 c.4928C>A p.T1643K missense 0.00000824●●●●●●
624. 48795991 c.2106G>T p.Q702H missense 0.00000824●●●●●●
625. 48722891 c.6848G>A p.R2283K missense 0.00000824●●●●●●
626. 48707889 c.7895T>G p.M2632R missense 0.00000824●●●●●●
627. 48777609 c.3674C>T p.P1225L missense 0.00000824●●●●●●
628. 48784727 c.2785A>T p.T929S missense 0.00000824●●●●●●
629. 48789528 c.2228G>A p.R743H missense 0.00000824●●●●●●
630. 48766803 c.4009G>A p.A1337T missense 0.00000824●●●●●●
631. 48757840 c.4867A>G p.I1623V missense 0.00000824●●●●●●
632. 48704921 c.8071G>C p.G2691R missense 0.00000824●●●●●●
633. 48762853 c.4437C>G p.D1479E missense 0.00000824●●●●●●
634. 48755302 c.5201A>T p.E1734V missense 0.00000824●●●●●●
635. 48757813 c.4894C>T p.R1632C missense 0.00000824●●●●●●
636. 48826307 c.832A>G p.K278E missense 0.00000824●●●●●●
637. 48805763 c.1571C>G p.T524R missense 0.00000824●●●●●●
638. 48764801 c.4283G>A p.R1428H missense 0.00000824●●●●●●
639. 48779535 c.3437T>C p.L1146P missense 0.00000824●●●●●●
640. 48764768 c.4316C>G p.A1439G missense 0.00000824●●●●●●
641. 48826326 c.813C>G p.C271W missense 0.00000824●●●●●●
642. 48704789 c.8203G>A p.E2735K missense 0.00000824●●●●●●
643. 48766755 c.4057G>T p.G1353W missense 0.00000824●●●●●●
644. 48704869 c.8123A>G p.N2708S missense 0.00000824●●●●●●
645. 48936896 c.71G>C p.G24A missense 0.00000824●●●●●●
646. 48818366 c.949C>T p.P317S missense 0.00000824●●●●●●
647. 48725132 c.6670A>G p.T2224A missense 0.00000824●●●●●●
648. 48717631 c.7388A>G p.E2463G missense 0.00000824●●●●●●
649. 48703447 c.8356A>G p.T2786A missense 0.00000824●●●●●●
650. 48818344 c.971A>G p.D324G missense 0.00000824●●●●●●
651. 48777678 c.3605G>T p.S1202I missense 0.00000824●●●●●●
652. 48812975 c.1028G>A p.G343E missense 0.00000824●●●●●●
653. 48796070 c.2027G>C p.G676A missense 0.00000824●●●●●●
654. 48782150 c.2980G>A p.E994K missense 0.00000824●●●●●●
655. 48773893 c.3923A>C p.D1308A missense 0.00000824●●●●●●
656. 48725073 c.6729G>T p.R2243S missense 0.00000824●●●●●●
657. 48789465 c.2291T>C p.V764A missense 0.00000824●●●●●●
658. 48780628 c.3145G>A p.G1049S missense 0.00000824●●●●●●
659. 48780589 c.3184G>A p.D1062N missense 0.00000824●●●●●●
660. 48707835 c.7949A>G p.N2650S missense 0.00000824●●●●●●
661. 48707928 c.7856G>A p.G2619E missense 0.00000824●●●●●●
662. 48748870 c.5386G>A p.G1796R missense 0.00000824●●●●●●
663. 48704885 c.8107G>A p.G2703S missense 0.00000824●●●●●●
664. 48782204 c.2926C>T p.R976C missense 0.00000824●●●●●●
665. 48780340 c.3307A>G p.S1103G missense 0.00000824●●●●●●
666. 48773949 c.3867T>G p.N1289K missense 0.00000824●●●●●●
667. 48703354 c.8449T>G p.F2817V missense 0.00000824●●●●●●
668. 48744786 c.5518C>T p.R1840C missense 0.00000824●●●●●●
669. 48717975 c.7291A>G p.T2431A missense 0.00000824●●●●●●
670. 48703554 c.8249A>C p.N2750T missense 0.00000824●●●●●●
671. 48818410 c.905G>T p.G302V missense 0.00000824●●●●●●
672. 48703495 c.8308C>T p.H2770Y missense 0.00000824●●●●●●
673. 48717983 c.7283T>C p.I2428T missense 0.00000824●●●●●●
674. 48779520 c.3452C>T p.S1151F missense 0.00000824●●●●●●
675. 48762885 c.4405C>T p.R1469C missense 0.00000824●●●●●●
676. 48744825 c.5479A>G p.T1827A 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.