FBN1 variants in ExAC

FBN1 gene summary
FBN1 variants in

The table below lists the FBN1 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. 48779402 c.3464-5G>A splice site 0.17089755●●●●●●
3. 48779530 c.3442C>G p.P1148A missense 0.02880448●●●●●●
4. 48712876 c.7819+8A>C splice site 0.02684005●●●●●●
5. 48782042 c.3082+6A>G splice site 0.00396977●●●●●●
6. 48722907 c.6832C>T p.P2278S missense 0.00334801●●●●●●
7. 48779506 c.3463+3A>G splice site 0.00311383●●●●●●
8. 48766855 c.3965-8T>C splice site 0.00236728●●●●●●
9. 48818329 c.986T>C p.I329T missense 0.00229014●●●●●●
10. 48782284 c.2855-9C>T splice site 0.00166293●●●●●●
11. 48782174 c.2956G>A p.A986T missense 0.00150779●●●●●●
12. 48779352 c.3509G>A p.R1170H missense 0.00117059●●●●●●
13. 48782040 c.3082+8delG splice site 0.00095558●●●●●●
14. 48773926 c.3890A>G p.E1297G missense 0.00084045●●●●●●
15. 48756086 c.5065+10A>G splice site 0.00082981●●●●●●
16. 48725102 c.6700G>A p.V2234M missense 0.00079128●●●●●●
17. 48704816 c.8176C>T p.R2726W missense 0.00073305●●●●●●
18. 48779550 c.3422C>T p.P1141L missense 0.00072480●●●●●●
19. 48764778 c.4306G>A p.V1436M missense 0.00070845●●●●●●
20. 48734051 c.6038-8T>A splice site 0.00067954●●●●●●
21. 48720553 c.6987C>G p.D2329E missense 0.00061048●●●●●●
22. 48739022 c.5672-3T>C splice site 0.00059603●●●●●●
23. 48782053 c.3077T>C p.F1026S missense 0.00047267●●●●●●
24. 48782072 c.3058A>G p.T1020A missense 0.00046324●●●●●●
25. 48734008 c.6073G>T p.A2025S missense 0.00046221●●●●●●
26. 48738893 c.5788+10C>A splice site 0.00043762●●●●●●
27. 48936888 c.79G>A p.A27T missense 0.00043662●●●●●●
28. 48782196 c.2934C>G p.D978E missense 0.00042038●●●●●●
29. 48787793 c.2420-8T>C splice site 0.00036455●●●●●●
30. 48704807 c.8185A>C p.K2729Q missense 0.00036241●●●●●●
31. 48758066 c.4748-11T>C splice site 0.00035671●●●●●●
32. 48762849 c.4441A>G p.S1481G missense 0.00033776●●●●●●
33. 48888476 c.538+4A>G splice site 0.00033007●●●●●●
34. 48707820 c.7964C>T p.A2655V missense 0.00032951●●●●●●
35. 48762958 c.4337-5C>G splice site 0.00029071●●●●●●
36. 48780684 c.3089A>G p.N1030S missense 0.00028062●●●●●●
37. 48719896 c.7072G>A p.V2358I missense 0.00024788●●●●●●
38. 48773920 c.3896C>T p.T1299M missense 0.00024719●●●●●●
39. 48707932 c.7852G>A p.G2618R missense 0.00024719●●●●●●
40. 48784759 c.2753C>G p.P918R missense 0.00022275●●●●●●
41. 48764883 c.4211-10C>T splice site 0.00020603●●●●●●
42. 48729976 c.6302C>T p.T2101M missense 0.00019878●●●●●●
43. 48764814 c.4270C>G p.P1424A missense 0.00018122●●●●●●
44. 48703261 c.8542A>C p.K2848Q missense 0.00017326●●●●●●
45. 48758053 c.4750G>A p.E1584K missense 0.00016954●●●●●●
46. 48818413 c.902G>T p.G301V missense 0.00016477●●●●●●
47. 48713793 c.7661G>A p.R2554Q missense 0.00015743●●●●●●
48. 48722907 c.6832C>G p.P2278A missense 0.00015668●●●●●●
49. 48812976 c.1027G>A p.G343R missense 0.00015661●●●●●●
50. 48704843 c.8149G>A p.E2717K missense 0.00015649●●●●●●
51. 48936908 c.59A>G p.Y20C missense 0.00014840●●●●●●
52. 48782203 c.2927G>A p.R976H missense 0.00014015●●●●●●
53. 48719758 c.7204+6T>G splice site 0.00013230●●●●●●
54. 48744885 c.5423-4G>A splice site 0.00013201●●●●●●
55. 48766442 c.4210+10C>T splice site 0.00013199●●●●●●
56. 48733971 c.6110A>G p.K2037R missense 0.00013191●●●●●●
57. 48779403 c.3464-6C>T splice site 0.00013183●●●●●●
58. 48734029 c.6052G>A p.V2018I missense 0.00012405●●●●●●
59. 48717673 c.7346A>G p.N2449S missense 0.00012383●●●●●●
60. 48776113 c.3740A>T p.N1247I missense 0.00012368●●●●●●
61. 48734037 c.6044A>T p.D2015V missense 0.00011589●●●●●●
62. 48703440 c.8363C>T p.T2788M missense 0.00010708●●●●●●
63. 48776056 c.3797A>T p.Y1266F missense 0.00009892●●●●●●
64. 48777678 c.3605G>A p.S1202N missense 0.00009890●●●●●●
65. 48826400 c.739G>A p.V247M missense 0.00009090●●●●●●
66. 48787397 c.2600A>G p.N867S missense 0.00009076●●●●●●
67. 48717932 c.7330+4A>G splice site 0.00009074●●●●●●
68. 48730117 c.6164-3C>T splice site 0.00009069●●●●●●
69. 48722894 c.6845G>A p.R2282Q missense 0.00009068●●●●●●
70. 48741063 c.5573A>G p.N1858S missense 0.00008341●●●●●●
71. 48808442 c.1265G>A p.G422E missense 0.00008262●●●●●●
72. 48760155 c.4727T>C p.M1576T missense 0.00008237●●●●●●
73. 48796041 c.2056G>A p.A686T missense 0.00008237●●●●●●
74. 48808373 c.1327+7A>G splice site 0.00007474●●●●●●
75. 48892425 c.353A>G p.H118R missense 0.00007438●●●●●●
76. 48800770 c.1837+9T>C splice site 0.00007427●●●●●●
77. 48714203 c.7516G>A p.G2506S missense 0.00007424●●●●●●
78. 48773971 c.3845A>G p.N1282S missense 0.00007423●●●●●●
79. 48717640 c.7379A>G p.K2460R missense 0.00007419●●●●●●
80. 48782104 c.3026C>G p.P1009R missense 0.00007417●●●●●●
81. 48808549 c.1158C>G p.N386K missense 0.00006720●●●●●●
82. 48777701 c.3590-8T>C splice site 0.00006609●●●●●●
83. 48779347 c.3514G>A p.V1172M missense 0.00006596●●●●●●
84. 48707938 c.7846A>G p.I2616V missense 0.00006594●●●●●●
85. 48936884 c.83A>G p.N28S missense 0.00006590●●●●●●
86. 48704803 c.8189G>A p.R2730Q missense 0.00006589●●●●●●
87. 48779286 c.3575G>A p.R1192K missense 0.00005912●●●●●●
88. 48905269 c.185G>A p.R62H missense 0.00005839●●●●●●
89. 48807707 c.1345G>A p.V449I missense 0.00005797●●●●●●
90. 48784766 c.2746G>A p.V916M missense 0.00005782●●●●●●
91. 48737648 c.5842A>G p.I1948V missense 0.00005776●●●●●●
92. 48714190 c.7529A>G p.K2510R missense 0.00005774●●●●●●
93. 48704921 c.8071G>A p.G2691S missense 0.00005766●●●●●●
94. 48764771 c.4313G>A p.S1438N missense 0.00005766●●●●●●
95. 48703492 c.8311G>A p.V2771I missense 0.00005766●●●●●●
96. 48758058 c.4748-3T>C splice site 0.00005135●●●●●●
97. 48729515 c.6379+4A>G splice site 0.00005018●●●●●●
98. 48808391 c.1316G>A p.R439Q missense 0.00004969●●●●●●
99. 48719757 c.7204+7C>G splice site 0.00004963●●●●●●
100. 48718056 c.7210G>A p.D2404N missense 0.00004963●●●●●●
101. 48800775 c.1837+4C>T splice site 0.00004951●●●●●●
102. 48707728 c.8051+5G>A splice site 0.00004950●●●●●●
103. 48779358 c.3503A>G p.N1168S missense 0.00004946●●●●●●
104. 48707758 c.8026C>T p.P2676S missense 0.00004945●●●●●●
105. 48707757 c.8027C>T p.P2676L missense 0.00004945●●●●●●
106. 48782180 c.2950G>A p.V984I missense 0.00004944●●●●●●
107. 48818344 c.971A>T p.D324V missense 0.00004943●●●●●●
108. 48764763 c.4321G>A p.G1441R missense 0.00004943●●●●●●
109. 48779526 c.3446A>G p.N1149S missense 0.00004942●●●●●●
110. 48936843 c.124G>C p.A42P missense 0.00004942●●●●●●
111. 48797326 c.1856C>A p.T619N missense 0.00004942●●●●●●
112. 48902919 c.346+6T>G splice site 0.00004234●●●●●●
113. 48808538 c.1169C>T p.S390F missense 0.00004186●●●●●●
114. 48905296 c.165-7G>A splice site 0.00004177●●●●●●
115. 48786454 c.2678-3C>T splice site 0.00004170●●●●●●
116. 48756162 c.4999G>A p.V1667I missense 0.00004150●●●●●●
117. 48739017 c.5674A>G p.I1892V missense 0.00004137●●●●●●
118. 48714264 c.7455T>G p.D2485E missense 0.00004137●●●●●●
119. 48707968 c.7820-4G>A splice site 0.00004136●●●●●●
120. 48812849 c.1147+7G>A splice site 0.00004133●●●●●●
121. 48802342 c.1613G>A p.G538D missense 0.00004131●●●●●●
122. 48800869 c.1747C>T p.L583F missense 0.00004130●●●●●●
123. 48808430 c.1277C>T p.P426L missense 0.00004130●●●●●●
124. 48807635 c.1417C>T p.R473W missense 0.00004125●●●●●●
125. 48766441 c.4210+11G>A splice site 0.00004124●●●●●●
126. 48812916 c.1087G>A p.G363S missense 0.00004123●●●●●●
127. 48782114 c.3016G>A p.E1006K missense 0.00004120●●●●●●
128. 48764870 c.4214T>G p.L1405R missense 0.00004120●●●●●●
129. 48764744 c.4336+4A>C splice site 0.00004119●●●●●●
130. 48703504 c.8299A>G p.N2767D missense 0.00004119●●●●●●
131. 48936891 c.76G>C p.D26H missense 0.00004119●●●●●●
132. 48707881 c.7903G>A p.A2635T missense 0.00004119●●●●●●
133. 48704923 c.8069T>G p.M2690R missense 0.00004118●●●●●●
134. 48704815 c.8177G>A p.R2726Q missense 0.00004118●●●●●●
135. 48756091 c.5065+5G>A splice site 0.00004070●●●●●●
136. 48719977 c.6998-7C>T splice site 0.00003512●●●●●●
137. 48756126 c.5035A>C p.M1679L missense 0.00003434●●●●●●
138. 48808532 c.1175C>G p.P392R missense 0.00003345●●●●●●
139. 48741054 c.5582G>A p.S1861N missense 0.00003333●●●●●●
140. 48741040 c.5596A>G p.I1866V missense 0.00003329●●●●●●
141. 48762948 c.4342G>A p.D1448N missense 0.00003326●●●●●●
142. 48782039 c.3082+9T>C splice site 0.00003324●●●●●●
143. 48729277 c.6380-3A>G splice site 0.00003319●●●●●●
144. 48892428 c.350A>G p.Q117R missense 0.00003306●●●●●●
145. 48818452 c.863A>G p.D288G missense 0.00003304●●●●●●
146. 48766512 c.4150A>G p.M1384V missense 0.00003303●●●●●●
147. 48722956 c.6783A>C p.K2261N missense 0.00003303●●●●●●
148. 48719869 c.7099G>A p.G2367R missense 0.00003302●●●●●●
149. 48776135 c.3718G>A p.D1240N missense 0.00003301●●●●●●
150. 48736812 c.5963C>T p.T1988I missense 0.00003299●●●●●●
151. 48722895 c.6844C>T p.R2282W missense 0.00003298●●●●●●
152. 48718005 c.7261G>A p.D2421N missense 0.00003298●●●●●●
153. 48776068 c.3785G>A p.R1262K missense 0.00003297●●●●●●
154. 48707785 c.7999G>A p.E2667K missense 0.00003297●●●●●●
155. 48812946 c.1057A>G p.I353V missense 0.00003297●●●●●●
156. 48744840 c.5464G>A p.A1822T missense 0.00003297●●●●●●
157. 48725093 c.6709G>A p.V2237M missense 0.00003297●●●●●●
158. 48780421 c.3226A>G p.I1076V missense 0.00003295●●●●●●
159. 48704813 c.8179G>A p.G2727S missense 0.00003295●●●●●●
160. 48780421 c.3226A>C p.I1076L missense 0.00003295●●●●●●
161. 48703503 c.8300A>G p.N2767S missense 0.00003295●●●●●●
162. 48717568 c.7451A>G p.K2484R missense 0.00003295●●●●●●
163. 48758061 c.4748-6C>T splice site 0.00002577●●●●●●
164. 48740958 c.5671+7A>G splice site 0.00002550●●●●●●
165. 48729508 c.6379+11T>C splice site 0.00002518●●●●●●
166. 48786446 c.2683A>G p.I895V missense 0.00002496●●●●●●
167. 48741033 c.5603C>T p.T1868I missense 0.00002496●●●●●●
168. 48786418 c.2711A>G p.K904R missense 0.00002491●●●●●●
169. 48808487 c.1220G>A p.G407D missense 0.00002490●●●●●●
170. 48808472 c.1235T>A p.V412D missense 0.00002484●●●●●●
171. 48712976 c.7727G>A p.R2576H missense 0.00002482●●●●●●
172. 48807682 c.1370G>A p.R457H missense 0.00002480●●●●●●
173. 48729193 c.6461C>T p.P2154L missense 0.00002478●●●●●●
174. 48729227 c.6427A>T p.I2143F missense 0.00002478●●●●●●
175. 48807592 c.1460A>C p.E487A missense 0.00002478●●●●●●
176. 48892419 c.359A>G p.N120S missense 0.00002477●●●●●●
177. 48829846 c.698G>A p.R233H missense 0.00002477●●●●●●
178. 48766499 c.4163G>A p.R1388H missense 0.00002477●●●●●●
179. 48782087 c.3043G>A p.A1015T missense 0.00002477●●●●●●
180. 48718047 c.7219A>G p.K2407E missense 0.00002476●●●●●●
181. 48737674 c.5816G>A splice site 0.00002476●●●●●●
182. 48760623 c.4568G>A p.R1523Q missense 0.00002476●●●●●●
183. 48714237 c.7482C>A p.H2494Q missense 0.00002476●●●●●●
184. 48826376 c.763G>A p.G255R missense 0.00002475●●●●●●
185. 48707726 c.8051+7A>G splice site 0.00002475●●●●●●
186. 48800790 c.1826G>A p.R609H missense 0.00002475●●●●●●
187. 48720608 c.6932G>A p.R2311H missense 0.00002475●●●●●●
188. 48714160 c.7559C>T p.T2520M missense 0.00002475●●●●●●
189. 48726806 c.6601A>G p.M2201V missense 0.00002474●●●●●●
190. 48703279 c.8524C>T p.L2842F missense 0.00002474●●●●●●
191. 48718025 c.7241G>A p.R2414Q missense 0.00002474●●●●●●
192. 48726830 c.6577G>A p.E2193K missense 0.00002474●●●●●●
193. 48720650 c.6890C>T p.T2297M missense 0.00002474●●●●●●
194. 48722880 c.6859G>C p.E2287Q missense 0.00002473●●●●●●
195. 48733909 c.6163+9C>G splice site 0.00002473●●●●●●
196. 48782200 c.2930T>G p.M977R missense 0.00002473●●●●●●
197. 48805763 c.1571C>T p.T524M missense 0.00002473●●●●●●
198. 48829924 c.620C>T p.T207M missense 0.00002473●●●●●●
199. 48725074 c.6728G>A p.R2243K missense 0.00002473●●●●●●
200. 48725077 c.6725G>A p.R2242H missense 0.00002473●●●●●●
201. 48703308 c.8495G>A p.S2832N missense 0.00002472●●●●●●
202. 48818430 c.885T>G p.I295M missense 0.00002472●●●●●●
203. 48892336 c.442C>T p.P148S missense 0.00002472●●●●●●
204. 48773938 c.3878G>A p.S1293N missense 0.00002472●●●●●●
205. 48717619 c.7400A>G p.Q2467R missense 0.00002472●●●●●●
206. 48826345 c.794C>T p.T265I missense 0.00002472●●●●●●
207. 48780423 c.3224G>A p.R1075H missense 0.00002472●●●●●●
208. 48784721 c.2791G>A p.G931R missense 0.00002472●●●●●●
209. 48757812 c.4895G>A p.R1632H missense 0.00002472●●●●●●
210. 48755323 c.5180G>A p.R1727Q missense 0.00002471●●●●●●
211. 48779517 c.3455C>T p.A1152V missense 0.00002471●●●●●●
212. 48795976 c.2113+8G>C splice site 0.00002471●●●●●●
213. 48779510 c.3462C>T p.I1154I splice site 0.00002471●●●●●●
214. 48704773 c.8219A>G p.N2740S missense 0.00002471●●●●●●
215. 48936798 c.164+5A>G splice site 0.00002471●●●●●●
216. 48777572 c.3711C>T splice site 0.00002471●●●●●●
217. 48703342 c.8461_8463delAAG p.Lys2821del inframe 0.00002471●●●●●●
218. 48777595 c.3688A>C p.M1230L missense 0.00002471●●●●●●
219. 48779562 c.3410G>A p.R1137H missense 0.00002471●●●●●●
220. 48797302 c.1880G>A p.R627H missense 0.00002471●●●●●●
221. 48797350 c.1838-6C>T splice site 0.00002471●●●●●●
222. 48780576 c.3197G>C p.R1066T missense 0.00002471●●●●●●
223. 48764807 c.4277G>C p.G1426A missense 0.00002471●●●●●●
224. 48760242 c.4640C>T p.T1547I missense 0.00002471●●●●●●
225. 48756098 c.5063T>C p.M1688T missense 0.00002265●●●●●●
226. 48713794 c.7660C>T p.R2554W missense 0.00001746●●●●●●
227. 48782279 c.2855-4A>G splice site 0.00001728●●●●●●
228. 48936959 c.8G>C p.R3P missense 0.00001710●●●●●●
229. 48903015 c.256C>T p.R86W missense 0.00001681●●●●●●
230. 48784777 c.2735A>G p.D912G missense 0.00001677●●●●●●
231. 48756221 c.4943-3T>C splice site 0.00001674●●●●●●
232. 48905297 c.165-8T>C splice site 0.00001671●●●●●●
233. 48905204 c.247+3A>G splice site 0.00001668●●●●●●
234. 48740988 c.5648A>G p.N1883S missense 0.00001666●●●●●●
235. 48782040 c.3082+8G>A splice site 0.00001665●●●●●●
236. 48779296 c.3565A>G p.T1189A missense 0.00001664●●●●●●
237. 48936936 c.31C>G p.L11V missense 0.00001661●●●●●●
238. 48713001 c.7702G>A p.V2568M missense 0.00001658●●●●●●
239. 48719917 c.7051G>A p.G2351S missense 0.00001656●●●●●●
240. 48734040 c.6041T>C p.I2014T missense 0.00001656●●●●●●
241. 48719918 c.7050C>G p.I2350M missense 0.00001656●●●●●●
242. 48787771 c.2434G>A p.E812K missense 0.00001656●●●●●●
243. 48766573 c.4089T>C splice site 0.00001655●●●●●●
244. 48936929 c.38T>G p.F13C missense 0.00001655●●●●●●
245. 48789594 c.2168-6G>A splice site 0.00001655●●●●●●
246. 48748944 c.5312G>A p.R1771Q missense 0.00001654●●●●●●
247. 48802351 c.1604T>C p.L535S missense 0.00001654●●●●●●
248. 48748945 c.5311C>T p.R1771W missense 0.00001654●●●●●●
249. 48737570 c.5917+3A>G splice site 0.00001654●●●●●●
250. 48760606 c.4582+3A>G splice site 0.00001653●●●●●●
251. 48757999 c.4804G>A p.V1602I missense 0.00001653●●●●●●
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755. 48760204 c.4678G>C p.A1560P missense 0.00000824●●●●●●
756. 48704869 c.8123A>G p.N2708S missense 0.00000824●●●●●●
757. 48755275 c.5224+4A>C splice site 0.00000824●●●●●●
758. 48780650 c.3123C>A p.H1041Q missense 0.00000824●●●●●●
759. 48766778 c.4034G>A p.S1345N missense 0.00000824●●●●●●
760. 48797297 c.1885G>A p.V629I missense 0.00000824●●●●●●
761. 48791183 c.2166T>G p.S722R missense 0.00000824●●●●●●
762. 48796007 c.2090A>G p.Q697R missense 0.00000824●●●●●●
763. 48707745 c.8039G>A p.R2680H missense 0.00000824●●●●●●
764. 48704894 c.8098C>T p.P2700S missense 0.00000824●●●●●●
765. 48755314 c.5189A>C p.N1730T missense 0.00000824●●●●●●
766. 48717558 c.7453+8A>G splice site 0.00000824●●●●●●
767. 48704782 c.8210A>G p.D2737G missense 0.00000824●●●●●●
768. 48805761 c.1573C>G p.R525G missense 0.00000824●●●●●●
769. 48779557 c.3415G>C p.E1139Q missense 0.00000824●●●●●●
770. 48779520 c.3452C>T p.S1151F missense 0.00000824●●●●●●
771. 48762886 c.4404C>G p.F1468L missense 0.00000824●●●●●●
772. 48704932 c.8060T>C p.V2687A missense 0.00000824●●●●●●
773. 48826324 c.815A>G p.K272R missense 0.00000824●●●●●●
774. 48777631 c.3652A>G p.S1218G missense 0.00000824●●●●●●
775. 48780673 c.3100A>G p.M1034V missense 0.00000824●●●●●●
776. 48764741 c.4336+7G>T splice site 0.00000824●●●●●●
777. 48760266 c.4616G>A p.R1539Q missense 0.00000824●●●●●●
778. 48725143 c.6659G>A p.R2220Q missense 0.00000824●●●●●●
779. 48766737 c.4075A>G p.I1359V missense 0.00000824●●●●●●
780. 48936805 c.162A>G splice site 0.00000824●●●●●●
781. 48703354 c.8449T>G p.F2817V missense 0.00000824●●●●●●
782. 48936840 c.127A>G p.K43E missense 0.00000824●●●●●●
783. 48717628 c.7391G>A p.G2464E missense 0.00000824●●●●●●
784. 48703440 c.8363C>G p.T2788R missense 0.00000824●●●●●●
785. 48818339 c.976A>G p.T326A missense 0.00000824●●●●●●
786. 48812960 c.1043A>G p.Q348R missense 0.00000824●●●●●●
787. 48796004 c.2093C>T p.P698L missense 0.00000824●●●●●●
788. 48773911 c.3905C>T p.S1302L missense 0.00000824●●●●●●
789. 48757794 c.4913A>C p.Y1638S missense 0.00000824●●●●●●
790. 48755434 c.5069T>G p.M1690R missense 0.00000824●●●●●●
791. 48707808 c.7976G>A p.C2659Y missense 0.00000824●●●●●●
792. 48703305 c.8498G>A p.S2833N missense 0.00000824●●●●●●
793. 48788400 c.2316C>G p.N772K missense 0.00000824●●●●●●
794. 48780592 c.3181C>G p.L1061V missense 0.00000824●●●●●●
795. 48780568 c.3205A>G p.T1069A missense 0.00000824●●●●●●
796. 48755380 c.5123G>A p.G1708E missense 0.00000824●●●●●●
797. 48722860 c.6871+8G>T splice site 0.00000824●●●●●●
798. 48788290 c.2419+7C>T splice site 0.00000824●●●●●●
799. 48744795 c.5509C>T p.P1837S missense 0.00000824●●●●●●
800. 48779577 c.3395C>T p.T1132I missense 0.00000824●●●●●●
801. 48764837 c.4247G>T p.G1416V missense 0.00000824●●●●●●
802. 48748876 c.5380C>T p.P1794S missense 0.00000824●●●●●●
803. 48780313 c.3334A>T p.M1112L missense 0.00000824●●●●●●
804. 48780437 c.3210C>T splice site 0.00000824●●●●●●
805. 48704763 c.8226+3G>A splice site 0.00000824●●●●●●
806. 48733971 c.6110A>C p.K2037T missense 0.00000824●●●●●●
807. 48704852 c.8140G>C p.A2714P missense 0.00000824●●●●●●
808. 48764881 c.4211-8G>C splice site 0.00000824●●●●●●
809. 48744771 c.5533G>C p.G1845R missense 0.00000824●●●●●●
810. 48703516 c.8287A>G p.I2763V missense 0.00000824●●●●●●
811. 48826315 c.824C>A p.A275D missense 0.00000824●●●●●●
812. 48703489 c.8314A>G p.S2772G missense 0.00000824●●●●●●
813. 48784726 c.2786C>T p.T929I missense 0.00000824●●●●●●
814. 48762879 c.4411G>A p.E1471K missense 0.00000824●●●●●●
815. 48717589 c.7430A>G p.Q2477R missense 0.00000824●●●●●●
816. 48703299 c.8504C>T p.P2835L missense 0.00000824●●●●●●
817. 48773962 c.3854A>G p.D1285G missense 0.00000824●●●●●●
818. 48760251 c.4631A>G p.N1544S missense 0.00000824●●●●●●
819. 48936813 c.154G>A p.A52T 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.