SREBF2 missense variants in ExAC

SREBF2 gene summary
SREBF2 variants in

The table below lists the SREBF2 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. 42276742 c.1784G>C p.G595A missense 0.33387281●●●●●●
2. 42293140 c.2580G>C p.R860S missense 0.07495646●●●●●●
3. 42276825 c.1867G>A p.V623M missense 0.00718446●●●●●●
4. 42271363 c.1112G>A p.R371K missense 0.00388537●●●●●●
5. 42301477 c.3239G>A p.R1080Q missense 0.00161477●●●●●●
6. 42273963 c.1597G>A p.D533N missense 0.00120252●●●●●●
7. 42296381 c.2786C>T p.A929V missense 0.00085430●●●●●●
8. 42294751 c.2704G>C p.V902L missense 0.00069950●●●●●●
9. 42280975 c.2168G>A p.G723E missense 0.00067630●●●●●●
10. 42280866 c.2059G>A p.A687T missense 0.00043657●●●●●●
11. 42267025 c.853G>T p.A285S missense 0.00038744●●●●●●
12. 42299074 c.3008C>T p.A1003V missense 0.00037340●●●●●●
13. 42263254 c.508A>G p.I170V missense 0.00034718●●●●●●
14. 42263057 c.311C>T p.A104V missense 0.00033773●●●●●●
15. 42276741 c.1783G>A p.G595S missense 0.00030556●●●●●●
16. 42296384 c.2789C>T p.S930L missense 0.00029853●●●●●●
17. 42276853 c.1895G>A p.R632H missense 0.00025960●●●●●●
18. 42301600 c.3362C>T p.S1121F missense 0.00025405●●●●●●
19. 42280996 c.2189G>T p.G730V missense 0.00024808●●●●●●
20. 42300888 c.3115G>A p.V1039M missense 0.00024101●●●●●●
21. 42280875 c.2068G>A p.D690N missense 0.00023887●●●●●●
22. 42301503 c.3265C>T p.R1089C missense 0.00022558●●●●●●
23. 42301528 c.3290C>T p.S1097F missense 0.00019931●●●●●●
24. 42262865 c.119G>A p.G40E missense 0.00018944●●●●●●
25. 42301656 c.3418G>A p.A1140T missense 0.00018361●●●●●●
26. 42264732 c.656C>T p.T219M missense 0.00016853●●●●●●
27. 42299116 c.3050G>A p.S1017N missense 0.00016038●●●●●●
28. 42299142 c.3076C>T p.R1026C missense 0.00015886●●●●●●
29. 42276895 c.1937G>A p.R646Q missense 0.00015740●●●●●●
30. 42293112 c.2552T>G p.V851G missense 0.00015598●●●●●●
31. 42301503 c.3265C>A p.R1089S missense 0.00015039●●●●●●
32. 42301546 c.3308C>T p.A1103V missense 0.00014841●●●●●●
33. 42301608 c.3370G>A p.D1124N missense 0.00013741●●●●●●
34. 42276792 c.1834C>T p.R612C missense 0.00013299●●●●●●
35. 42271653 c.1311C>A p.D437E missense 0.00013180●●●●●●
36. 42299068 c.3002A>C p.Y1001S missense 0.00013101●●●●●●
37. 42296467 c.2872G>A p.V958I missense 0.00012457●●●●●●
38. 42276724 c.1766A>C p.D589A missense 0.00012383●●●●●●
39. 42262962 c.216C>A p.S72R missense 0.00009887●●●●●●
40. 42289229 c.2317C>T p.R773W missense 0.00009887●●●●●●
41. 42293122 c.2562G>A p.M854I missense 0.00009583●●●●●●
42. 42300939 c.3166C>A p.H1056N missense 0.00009538●●●●●●
43. 42276955 c.1997C>T p.A666V missense 0.00009515●●●●●●
44. 42301593 c.3355C>T p.R1119W missense 0.00009475●●●●●●
45. 42294757 c.2710C>T p.R904C missense 0.00009169●●●●●●
46. 42294664 c.2617A>G p.I873V missense 0.00009104●●●●●●
47. 42273363 c.1517C>T p.A506V missense 0.00009062●●●●●●
48. 42301476 c.3238C>T p.R1080W missense 0.00008560●●●●●●
49. 42274020 c.1654G>A p.V552I missense 0.00008236●●●●●●
50. 42293114 c.2554G>A p.G852R missense 0.00007807●●●●●●
51. 42276870 c.1912C>T p.L638F missense 0.00007561●●●●●●
52. 42280986 c.2179C>T p.R727W missense 0.00007430●●●●●●
53. 42280846 c.2039G>A p.G680E missense 0.00007414●●●●●●
54. 42264789 c.713A>C p.Q238P missense 0.00007402●●●●●●
55. 42300919 c.3146G>A p.R1049H missense 0.00006781●●●●●●
56. 42264764 c.688A>G p.T230A missense 0.00006774●●●●●●
57. 42289233 c.2321G>A p.S774N missense 0.00006591●●●●●●
58. 42264752 c.676G>T p.A226S missense 0.00006311●●●●●●
59. 42229281 c.7G>T p.D3Y missense 0.00006263●●●●●●
60. 42229293 c.19C>A p.L7M missense 0.00006124●●●●●●
61. 42301543 c.3305G>A p.R1102Q missense 0.00006073●●●●●●
62. 42229315 c.41A>G p.E14G missense 0.00005907●●●●●●
63. 42229333 c.59G>A p.G20D missense 0.00005853●●●●●●
64. 42299157 c.3091A>G p.K1031E missense 0.00005830●●●●●●
65. 42301551 c.3313C>G p.L1105V missense 0.00005826●●●●●●
66. 42294737 c.2690C>T p.S897F missense 0.00005818●●●●●●
67. 42294656 c.2609C>G p.P870R missense 0.00005797●●●●●●
68. 42289137 c.2225G>A p.R742Q missense 0.00005769●●●●●●
69. 42266998 c.826G>A p.A276T missense 0.00005768●●●●●●
70. 42299154 c.3088C>T p.R1030C missense 0.00005749●●●●●●
71. 42301647 c.3409G>A p.A1137T missense 0.00005643●●●●●●
72. 42299053 c.2987C>T p.A996V missense 0.00005552●●●●●●
73. 42300978 c.3205G>A p.G1069R missense 0.00005537●●●●●●
74. 42300948 c.3175C>T p.R1059W missense 0.00005522●●●●●●
75. 42264720 c.644C>T p.T215M missense 0.00004983●●●●●●
76. 42267034 c.862G>C p.V288L missense 0.00004948●●●●●●
77. 42301626 c.3388G>A p.V1130I missense 0.00004855●●●●●●
78. 42301596 c.3358C>T p.R1120C missense 0.00004687●●●●●●
79. 42299020 c.2954C>T p.A985V missense 0.00004623●●●●●●
80. 42301455 c.3217G>A p.A1073T missense 0.00004547●●●●●●
81. 42300951 c.3178C>T p.R1060W missense 0.00004487●●●●●●
82. 42300952 c.3179G>A p.R1060Q missense 0.00004484●●●●●●
83. 42276973 c.2015G>A p.R672Q missense 0.00004381●●●●●●
84. 42294746 c.2699C>G p.T900S missense 0.00004160●●●●●●
85. 42301480 c.3242C>T p.A1081V missense 0.00004159●●●●●●
86. 42276793 c.1835G>A p.R612H missense 0.00004158●●●●●●
87. 42294733 c.2686C>T p.R896C missense 0.00004156●●●●●●
88. 42294730 c.2683G>C p.V895L missense 0.00004152●●●●●●
89. 42296413 c.2818A>G p.S940G missense 0.00004141●●●●●●
90. 42290857 c.2411G>A p.C804Y missense 0.00004121●●●●●●
91. 42263146 c.400C>T p.R134C missense 0.00004119●●●●●●
92. 42289234 c.2322C>G p.S774R missense 0.00004119●●●●●●
93. 42271605 c.1263C>G p.I421M missense 0.00004118●●●●●●
94. 42269851 c.917T>C p.M306T missense 0.00004086●●●●●●
95. 42301494 c.3256C>A p.L1086M missense 0.00003901●●●●●●
96. 42293064 c.2504C>T p.S835F missense 0.00003859●●●●●●
97. 42301504 c.3266G>A p.R1089H missense 0.00003743●●●●●●
98. 42293147 c.2587G>A p.V863M missense 0.00003673●●●●●●
99. 42276889 c.1931G>A p.C644Y missense 0.00003468●●●●●●
100. 42276949 c.1991G>T p.R664L missense 0.00003450●●●●●●
101. 42298993 c.2927G>A p.C976Y missense 0.00003439●●●●●●
102. 42301518 c.3280T>C p.S1094P missense 0.00003435●●●●●●
103. 42299008 c.2942C>T p.S981L missense 0.00003380●●●●●●
104. 42301521 c.3283T>G p.F1095V missense 0.00003359●●●●●●
105. 42276861 c.1903C>T p.R635C missense 0.00003354●●●●●●
106. 42294739 c.2692C>T p.H898Y missense 0.00003324●●●●●●
107. 42290920 c.2474G>C p.G825A missense 0.00003318●●●●●●
108. 42294670 c.2623C>T p.R875W missense 0.00003312●●●●●●
109. 42262933 c.187A>G p.S63G missense 0.00003298●●●●●●
110. 42267013 c.841A>G p.I281V missense 0.00003297●●●●●●
111. 42263192 c.446C>T p.T149M missense 0.00003296●●●●●●
112. 42274099 c.1733G>A p.R578Q missense 0.00003295●●●●●●
113. 42274078 c.1712C>T p.S571L missense 0.00003295●●●●●●
114. 42266969 c.797T>C p.M266T missense 0.00003295●●●●●●
115. 42263008 c.262G>T p.V88L missense 0.00003295●●●●●●
116. 42300961 c.3188C>T p.T1063M missense 0.00003175●●●●●●
117. 42299104 c.3038G>A p.R1013Q missense 0.00003169●●●●●●
118. 42301537 c.3299G>A p.G1100D missense 0.00003132●●●●●●
119. 42300955 c.3182G>A p.R1061H missense 0.00003065●●●●●●
120. 42269852 c.918G>T p.M306I missense 0.00003046●●●●●●
121. 42301654 c.3416C>A p.A1139D missense 0.00002972●●●●●●
122. 42301653 c.3415G>A p.A1139T missense 0.00002954●●●●●●
123. 42299055 c.2989G>T p.V997L missense 0.00002819●●●●●●
124. 42301560 c.3322G>A p.E1108K missense 0.00002766●●●●●●
125. 42293130 c.2570C>T p.P857L missense 0.00002633●●●●●●
126. 42276972 c.2014C>T p.R672W missense 0.00002623●●●●●●
127. 42300870 c.3097T>C p.F1033L missense 0.00002623●●●●●●
128. 42301569 c.3331C>A p.R1111S missense 0.00002606●●●●●●
129. 42299092 c.3026C>T p.A1009V missense 0.00002580●●●●●●
130. 42299038 c.2972C>T p.A991V missense 0.00002536●●●●●●
131. 42296336 c.2741G>C p.S914T missense 0.00002520●●●●●●
132. 42294739 c.2692C>G p.H898D missense 0.00002493●●●●●●
133. 42276790 c.1832C>G p.S611C missense 0.00002493●●●●●●
134. 42294734 c.2687G>A p.R896H missense 0.00002492●●●●●●
135. 42276745 c.1787A>G p.N596S missense 0.00002481●●●●●●
136. 42271356 c.1105G>A p.V369I missense 0.00002480●●●●●●
137. 42280992 c.2185G>A p.G729R missense 0.00002479●●●●●●
138. 42280987 c.2180G>A p.R727Q missense 0.00002477●●●●●●
139. 42273384 c.1538C>G p.P513R missense 0.00002473●●●●●●
140. 42289187 c.2275C>T p.R759C missense 0.00002472●●●●●●
141. 42289230 c.2318G>A p.R773Q missense 0.00002472●●●●●●
142. 42280927 c.2120A>C p.K707T missense 0.00002472●●●●●●
143. 42280873 c.2066C>G p.S689C missense 0.00002471●●●●●●
144. 42263015 c.269G>A p.R90Q missense 0.00002471●●●●●●
145. 42273269 c.1423G>C p.G475R missense 0.00002471●●●●●●
146. 42271425 c.1174A>G p.M392V missense 0.00002471●●●●●●
147. 42266962 c.790C>T p.P264S missense 0.00002471●●●●●●
148. 42262840 c.94C>G p.L32V missense 0.00002471●●●●●●
149. 42274059 c.1693C>T p.R565W missense 0.00002471●●●●●●
150. 42273356 c.1510G>A p.G504R missense 0.00002471●●●●●●
151. 42301584 c.3346G>A p.V1116M missense 0.00002425●●●●●●
152. 42301594 c.3356G>A p.R1119Q missense 0.00002357●●●●●●
153. 42301609 c.3371A>T p.D1124V missense 0.00002287●●●●●●
154. 42301606 c.3368A>C p.N1123T missense 0.00002283●●●●●●
155. 42300876 c.3103C>T p.H1035Y missense 0.00002281●●●●●●
156. 42269849 c.915G>C p.M305I missense 0.00002071●●●●●●
157. 42269850 c.916A>G p.M306V missense 0.00002057●●●●●●
158. 42293070 c.2510C>G p.A837G missense 0.00001864●●●●●●
159. 42293075 c.2515G>C p.E839Q missense 0.00001817●●●●●●
160. 42300975 c.3202C>T p.H1068Y missense 0.00001796●●●●●●
161. 42276894 c.1936C>T p.R646W missense 0.00001762●●●●●●
162. 42293130 c.2570C>G p.P857R missense 0.00001755●●●●●●
163. 42276971 c.2013C>G p.H671Q missense 0.00001748●●●●●●
164. 42276945 c.1987G>A p.A663T missense 0.00001723●●●●●●
165. 42273422 c.1576T>C p.S526P missense 0.00001691●●●●●●
166. 42296337 c.2742C>G p.S914R missense 0.00001679●●●●●●
167. 42264729 c.653G>A p.G218D missense 0.00001678●●●●●●
168. 42276828 c.1870A>T p.I624F missense 0.00001669●●●●●●
169. 42294758 c.2711G>T p.R904L missense 0.00001668●●●●●●
170. 42294758 c.2711G>A p.R904H missense 0.00001668●●●●●●
171. 42299070 c.3004C>T p.H1002Y missense 0.00001667●●●●●●
172. 42271344 c.1093C>A p.H365N missense 0.00001664●●●●●●
173. 42263272 c.526A>G p.T176A missense 0.00001656●●●●●●
174. 42294680 c.2633C>T p.T878M missense 0.00001656●●●●●●
175. 42264702 c.626A>C p.Q209P missense 0.00001652●●●●●●
176. 42280987 c.2180G>C p.R727P missense 0.00001651●●●●●●
177. 42290886 c.2440T>C p.S814P missense 0.00001650●●●●●●
178. 42290875 c.2429G>A p.R810Q missense 0.00001650●●●●●●
179. 42274126 c.1760G>C p.R587T missense 0.00001649●●●●●●
180. 42273379 c.1533G>T p.Q511H missense 0.00001648●●●●●●
181. 42271682 c.1340A>C p.Y447S missense 0.00001648●●●●●●
182. 42290836 c.2390C>T p.A797V missense 0.00001648●●●●●●
183. 42263209 c.463A>G p.T155A missense 0.00001648●●●●●●
184. 42289251 c.2339C>T p.A780V missense 0.00001648●●●●●●
185. 42263150 c.404C>T p.P135L missense 0.00001648●●●●●●
186. 42266981 c.809A>G p.Q270R missense 0.00001648●●●●●●
187. 42263171 c.425A>C p.Q142P missense 0.00001648●●●●●●
188. 42271392 c.1141C>G p.Q381E missense 0.00001648●●●●●●
189. 42289165 c.2253C>G p.H751Q missense 0.00001648●●●●●●
190. 42289215 c.2303A>G p.K768R missense 0.00001648●●●●●●
191. 42266899 c.727G>A p.V243I missense 0.00001648●●●●●●
192. 42263207 c.461C>G p.P154R missense 0.00001648●●●●●●
193. 42263050 c.304C>G p.P102A missense 0.00001647●●●●●●
194. 42262870 c.124T>C p.F42L missense 0.00001647●●●●●●
195. 42262918 c.172G>T p.G58C missense 0.00001647●●●●●●
196. 42274072 c.1706G>A p.R569H missense 0.00001647●●●●●●
197. 42263089 c.343A>G p.K115E missense 0.00001647●●●●●●
198. 42263101 c.355A>G p.T119A missense 0.00001647●●●●●●
199. 42271570 c.1228G>A p.G410S missense 0.00001647●●●●●●
200. 42271441 c.1190C>A p.A397E missense 0.00001647●●●●●●
201. 42274067 c.1701C>G p.H567Q missense 0.00001647●●●●●●
202. 42299068 c.3002A>G p.Y1001C missense 0.00001638●●●●●●
203. 42299068 c.3002A>T p.Y1001F missense 0.00001638●●●●●●
204. 42299065 c.2999C>T p.T1000I missense 0.00001563●●●●●●
205. 42300901 c.3128C>T p.A1043V missense 0.00001552●●●●●●
206. 42299063 c.2997G>C p.E999D missense 0.00001538●●●●●●
207. 42300949 c.3176G>A p.R1059Q missense 0.00001453●●●●●●
208. 42269820 c.886G>C p.G296R missense 0.00001352●●●●●●
209. 42300926 c.3153C>G p.H1051Q missense 0.00001314●●●●●●
210. 42299046 c.2980A>G p.S994G missense 0.00001307●●●●●●
211. 42298977 c.2911G>A p.V971I missense 0.00001234●●●●●●
212. 42264785 c.709C>G p.Q237E missense 0.00001184●●●●●●
213. 42264786 c.710A>C p.Q237P missense 0.00001184●●●●●●
214. 42299022 c.2956C>A p.L986I missense 0.00001158●●●●●●
215. 42298990 c.2924C>T p.T975I missense 0.00001157●●●●●●
216. 42264774 c.698C>T p.A233V missense 0.00001046●●●●●●
217. 42269856 c.922C>A p.Q308K missense 0.00000992●●●●●●
218. 42293159 c.2599G>A p.A867T missense 0.00000957●●●●●●
219. 42264759 c.683T>G p.V228G missense 0.00000948●●●●●●
220. 42264752 c.676G>C p.A226P missense 0.00000902●●●●●●
221. 42293079 c.2519A>G p.Y840C missense 0.00000898●●●●●●
222. 42293136 c.2576C>T p.S859F missense 0.00000886●●●●●●
223. 42293127 c.2567C>T p.P856L missense 0.00000875●●●●●●
224. 42293124 c.2564G>A p.S855N missense 0.00000873●●●●●●
225. 42293120 c.2560A>G p.M854V missense 0.00000870●●●●●●
226. 42276964 c.2006C>T p.A669V missense 0.00000869●●●●●●
227. 42293100 c.2540T>C p.F847S missense 0.00000869●●●●●●
228. 42293117 c.2557G>A p.V853I missense 0.00000868●●●●●●
229. 42293114 c.2554G>T p.G852W missense 0.00000867●●●●●●
230. 42293111 c.2551G>T p.V851L missense 0.00000866●●●●●●
231. 42276957 c.1999G>T p.A667S missense 0.00000865●●●●●●
232. 42276901 c.1943C>T p.T648M missense 0.00000856●●●●●●
233. 42276909 c.1951A>G p.T651A missense 0.00000852●●●●●●
234. 42294784 c.2737G>C p.E913Q missense 0.00000844●●●●●●
235. 42273419 c.1573G>A p.E525K missense 0.00000842●●●●●●
236. 42290938 c.2492G>A p.S831N missense 0.00000840●●●●●●
237. 42296335 c.2740A>G p.S914G missense 0.00000840●●●●●●
238. 42276871 c.1913T>C p.L638P missense 0.00000840●●●●●●
239. 42276862 c.1904G>A p.R635H missense 0.00000839●●●●●●
240. 42276859 c.1901T>C p.V634A missense 0.00000838●●●●●●
241. 42296339 c.2744C>T p.P915L missense 0.00000838●●●●●●
242. 42276853 c.1895G>T p.R632L missense 0.00000837●●●●●●
243. 42294766 c.2719A>G p.K907E missense 0.00000837●●●●●●
244. 42294768 c.2721G>C p.K907N missense 0.00000837●●●●●●
245. 42294770 c.2723C>T p.A908V missense 0.00000837●●●●●●
246. 42269911 c.977C>T p.P326L missense 0.00000836●●●●●●
247. 42290932 c.2486A>T p.E829V missense 0.00000835●●●●●●
248. 42264726 c.650A>C p.N217T missense 0.00000835●●●●●●
249. 42264726 c.650A>G p.N217S missense 0.00000835●●●●●●
250. 42296350 c.2755G>A p.A919T missense 0.00000834●●●●●●
251. 42296482 c.2887T>C p.S963P missense 0.00000833●●●●●●
252. 42276804 c.1846G>T p.A616S missense 0.00000833●●●●●●
253. 42296359 c.2764C>G p.H922D missense 0.00000832●●●●●●
254. 42271344 c.1093C>T p.H365Y missense 0.00000832●●●●●●
255. 42276796 c.1838T>C p.L613P missense 0.00000832●●●●●●
256. 42296362 c.2767G>T p.A923S missense 0.00000832●●●●●●
257. 42296470 c.2875A>G p.S959G missense 0.00000831●●●●●●
258. 42290925 c.2479C>G p.Q827E missense 0.00000831●●●●●●
259. 42296472 c.2877T>G p.S959R missense 0.00000831●●●●●●
260. 42296452 c.2857T>C p.W953R missense 0.00000829●●●●●●
261. 42296453 c.2858G>C p.W953S missense 0.00000829●●●●●●
262. 42269928 c.994C>T p.R332W missense 0.00000829●●●●●●
263. 42276774 c.1816C>T p.R606W missense 0.00000829●●●●●●
264. 42276774 c.1816C>G p.R606G missense 0.00000829●●●●●●
265. 42294685 c.2638G>A p.A880T missense 0.00000828●●●●●●
266. 42276769 c.1811T>C p.L604S missense 0.00000828●●●●●●
267. 42294671 c.2624G>C p.R875P missense 0.00000828●●●●●●
268. 42273406 c.1560T>A p.S520R missense 0.00000828●●●●●●
269. 42290915 c.2469G>C p.K823N missense 0.00000828●●●●●●
270. 42296404 c.2809G>A p.G937R missense 0.00000828●●●●●●
271. 42296424 c.2829C>G p.C943W missense 0.00000828●●●●●●
272. 42263263 c.517A>C p.N173H missense 0.00000827●●●●●●
273. 42264704 c.628C>T p.R210W missense 0.00000827●●●●●●
274. 42263257 c.511T>C p.Y171H missense 0.00000827●●●●●●
275. 42269980 c.1046A>G p.K349R missense 0.00000826●●●●●●
276. 42269985 c.1051A>G p.I351V missense 0.00000826●●●●●●
277. 42273386 c.1540C>T p.H514Y missense 0.00000825●●●●●●
278. 42264695 c.619C>G p.Q207E missense 0.00000825●●●●●●
279. 42280971 c.2164A>G p.M722V missense 0.00000825●●●●●●
280. 42273393 c.1547G>T p.G516V missense 0.00000825●●●●●●
281. 42271718 c.1376A>G p.D459G missense 0.00000825●●●●●●
282. 42274125 c.1759A>G p.R587G missense 0.00000825●●●●●●
283. 42263234 c.488G>A p.R163K missense 0.00000825●●●●●●
284. 42289284 c.2372A>G p.N791S missense 0.00000825●●●●●●
285. 42280972 c.2165T>C p.M722T missense 0.00000825●●●●●●
286. 42267034 c.862G>A p.V288I missense 0.00000825●●●●●●
287. 42269956 c.1022G>A p.R341Q missense 0.00000825●●●●●●
288. 42271368 c.1117G>A p.A373T missense 0.00000825●●●●●●
289. 42280984 c.2177C>T p.T726I missense 0.00000825●●●●●●
290. 42274122 c.1756G>A p.A586T missense 0.00000825●●●●●●
291. 42269974 c.1040A>G p.N347S missense 0.00000825●●●●●●
292. 42280929 c.2122A>G p.I708V missense 0.00000824●●●●●●
293. 42273302 c.1456G>A p.V486I missense 0.00000824●●●●●●
294. 42267019 c.847A>G p.T283A missense 0.00000824●●●●●●
295. 42263096 c.350C>T p.S117F missense 0.00000824●●●●●●
296. 42263068 c.322C>G p.Q108E missense 0.00000824●●●●●●
297. 42280947 c.2140G>A p.V714I missense 0.00000824●●●●●●
298. 42266927 c.755C>G p.S252C missense 0.00000824●●●●●●
299. 42262979 c.233G>A p.G78D missense 0.00000824●●●●●●
300. 42290866 c.2420T>G p.L807R missense 0.00000824●●●●●●
301. 42266992 c.820C>T p.L274F missense 0.00000824●●●●●●
302. 42290859 c.2413A>G p.K805E missense 0.00000824●●●●●●
303. 42271570 c.1228G>C p.G410R missense 0.00000824●●●●●●
304. 42264663 c.587C>T p.P196L missense 0.00000824●●●●●●
305. 42289217 c.2305T>G p.F769V missense 0.00000824●●●●●●
306. 42271372 c.1121T>C p.I374T missense 0.00000824●●●●●●
307. 42263215 c.469A>C p.S157R missense 0.00000824●●●●●●
308. 42263198 c.452T>C p.M151T missense 0.00000824●●●●●●
309. 42263123 c.377G>A p.R126K missense 0.00000824●●●●●●
310. 42289136 c.2224C>G p.R742G missense 0.00000824●●●●●●
311. 42273975 c.1609C>T p.P537S missense 0.00000824●●●●●●
312. 42262921 c.175G>A p.G59S missense 0.00000824●●●●●●
313. 42280912 c.2105A>C p.E702A missense 0.00000824●●●●●●
314. 42273269 c.1423G>A p.G475S missense 0.00000824●●●●●●
315. 42266999 c.827C>G p.A276G missense 0.00000824●●●●●●
316. 42271615 c.1273A>C p.N425H missense 0.00000824●●●●●●
317. 42271598 c.1256T>G p.L419R missense 0.00000824●●●●●●
318. 42262895 c.149T>C p.L50P missense 0.00000824●●●●●●
319. 42273380 c.1534C>T p.H512Y missense 0.00000824●●●●●●
320. 42289274 c.2362G>A p.A788T missense 0.00000824●●●●●●
321. 42271547 c.1205A>C p.K402T missense 0.00000824●●●●●●
322. 42274069 c.1703C>T p.S568L missense 0.00000824●●●●●●
323. 42274058 c.1692C>G p.I564M missense 0.00000824●●●●●●
324. 42273324 c.1478C>G p.S493C missense 0.00000824●●●●●●
325. 42267020 c.848C>T p.T283M missense 0.00000824●●●●●●
326. 42263099 c.353C>T p.P118L missense 0.00000824●●●●●●
327. 42271687 c.1345A>G p.I449V missense 0.00000824●●●●●●
328. 42266957 c.785G>A p.G262D missense 0.00000824●●●●●●
329. 42262981 c.235A>G p.S79G missense 0.00000824●●●●●●
330. 42262942 c.196A>G p.S66G missense 0.00000824●●●●●●
331. 42280877 c.2070T>G p.D690E missense 0.00000824●●●●●●
332. 42271564 c.1222G>A p.D408N missense 0.00000824●●●●●●
333. 42271577 c.1235T>C p.L412P missense 0.00000824●●●●●●
334. 42289251 c.2339C>G p.A780G missense 0.00000824●●●●●●
335. 42289224 c.2312T>C p.M771T missense 0.00000824●●●●●●
336. 42274105 c.1739A>G p.Q580R missense 0.00000824●●●●●●
337. 42263202 c.456C>G p.I152M missense 0.00000824●●●●●●
338. 42273978 c.1612A>G p.T538A missense 0.00000824●●●●●●
339. 42263155 c.409C>T p.P137S missense 0.00000824●●●●●●
340. 42263125 c.379G>A p.A127T missense 0.00000824●●●●●●
341. 42289262 c.2350A>G p.S784G missense 0.00000824●●●●●●
342. 42266987 c.815C>T p.P272L missense 0.00000824●●●●●●
343. 42263027 c.281A>G p.Q94R missense 0.00000824●●●●●●
344. 42280935 c.2128C>T p.P710S missense 0.00000824●●●●●●
345. 42280914 c.2107T>C p.C703R missense 0.00000824●●●●●●
346. 42273282 c.1436G>T p.R479L missense 0.00000824●●●●●●
347. 42267007 c.835A>G p.T279A missense 0.00000824●●●●●●
348. 42263074 c.328C>T p.P110S missense 0.00000824●●●●●●
349. 42273282 c.1436G>A p.R479H missense 0.00000824●●●●●●
350. 42271622 c.1280A>G p.N427S missense 0.00000824●●●●●●
351. 42271414 c.1163G>A p.R388H missense 0.00000824●●●●●●
352. 42271561 c.1219A>G p.I407V missense 0.00000824●●●●●●
353. 42264669 c.593C>T p.T198I missense 0.00000824●●●●●●
354. 42271436 c.1185G>C p.K395N missense 0.00000824●●●●●●
355. 42264641 c.565G>A p.V189M missense 0.00000824●●●●●●
356. 42290860 c.2414A>G p.K805R missense 0.00000824●●●●●●
357. 42263191 c.445A>G p.T149A missense 0.00000824●●●●●●
358. 42274068 c.1702T>A p.S568T missense 0.00000824●●●●●●
359. 42289188 c.2276G>A p.R759H missense 0.00000824●●●●●●
360. 42273384 c.1538C>T p.P513L missense 0.00000824●●●●●●
361. 42280899 c.2092G>A p.V698M missense 0.00000824●●●●●●
362. 42273236 c.1390A>G p.K464E missense 0.00000824●●●●●●
363. 42271699 c.1357C>T p.P453S missense 0.00000824●●●●●●
364. 42262990 c.244G>A p.G82R missense 0.00000824●●●●●●
365. 42271579 c.1237G>A p.V413M missense 0.00000824●●●●●●
366. 42262873 c.127C>G p.P43A missense 0.00000824●●●●●●
367. 42262861 c.115G>A p.V39M missense 0.00000824●●●●●●
368. 42289257 c.2345A>G p.K782R missense 0.00000824●●●●●●
369. 42274116 c.1750G>A p.D584N missense 0.00000824●●●●●●
370. 42271405 c.1154A>G p.H385R missense 0.00000824●●●●●●
371. 42289179 c.2267A>T p.D756V missense 0.00000824●●●●●●
372. 42263165 c.419A>C p.Q140P missense 0.00000824●●●●●●
373. 42289272 c.2360G>A p.C787Y missense 0.00000824●●●●●●
374. 42273288 c.1442G>A p.R481Q missense 0.00000824●●●●●●
375. 42263092 c.346G>T p.V116F missense 0.00000824●●●●●●
376. 42263035 c.289T>G p.L97V missense 0.00000824●●●●●●
377. 42280942 c.2135C>T p.T712I missense 0.00000824●●●●●●
378. 42262963 c.217A>G p.S73G missense 0.00000824●●●●●●
379. 42262928 c.182G>A p.G61D missense 0.00000824●●●●●●
380. 42280858 c.2051C>T p.A684V missense 0.00000824●●●●●●
381. 42271670 c.1328G>A p.G443D missense 0.00000824●●●●●●
382. 42262973 c.227G>A p.G76D missense 0.00000824●●●●●●
383. 42290851 c.2405C>A p.A802D missense 0.00000824●●●●●●
384. 42264669 c.593C>G p.T198S missense 0.00000824●●●●●●
385. 42264656 c.580G>A p.V194I missense 0.00000824●●●●●●
386. 42290864 c.2418C>G p.N806K missense 0.00000824●●●●●●
387. 42263143 c.397C>G p.P133A missense 0.00000824●●●●●●
388. 42289199 c.2287C>T p.H763Y missense 0.00000824●●●●●●
389. 42263102 c.356C>T p.T119I missense 0.00000824●●●●●●
390. 42262916 c.170G>T p.S57I missense 0.00000824●●●●●●
391. 42280903 c.2096A>T p.N699I missense 0.00000824●●●●●●
392. 42273251 c.1405T>A p.S469T missense 0.00000824●●●●●●
393. 42271706 c.1364G>A p.S455N missense 0.00000824●●●●●●
394. 42271582 c.1240G>A p.D414N missense 0.00000824●●●●●●
395. 42262879 c.133T>A p.L45M missense 0.00000824●●●●●●
396. 42273264 c.1418C>T p.A473V missense 0.00000824●●●●●●
397. 42271606 c.1264G>A p.E422K missense 0.00000824●●●●●●
398. 42289263 c.2351G>T p.S784I missense 0.00000824●●●●●●
399. 42271413 c.1162C>T p.R388C missense 0.00000824●●●●●●
400. 42289182 c.2270C>T p.S757F missense 0.00000824●●●●●●
401. 42274024 c.1658T>C p.F553S missense 0.00000824●●●●●●
402. 42263170 c.424C>G p.Q142E missense 0.00000824●●●●●●
403. 42262922 c.176G>A p.G59D 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.