AGL missense variants in ExAC

AGL gene summary
AGL variants in

The table below lists the AGL 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. 100358103 c.3199C>T p.P1067S missense 0.13612795●●●●●●
2. 100361925 c.3343G>A p.G1115R missense 0.06883855●●●●●●
3. 100340787 c.1160G>A p.R387Q missense 0.04756454●●●●●●
4. 100335977 c.686A>G p.Q229R missense 0.03256013●●●●●●
5. 100340782 c.1155G>T p.K385N missense 0.01404746●●●●●●
6. 100343254 c.1481G>A p.R494H missense 0.00888442●●●●●●
7. 100376325 c.3758G>A p.R1253H missense 0.00551918●●●●●●
8. 100327088 c.112A>G p.T38A missense 0.00471034●●●●●●
9. 100356848 c.2885C>G p.S962C missense 0.00435787●●●●●●
10. 100349983 c.2522C>T p.S841F missense 0.00287105●●●●●●
11. 100368269 c.3619G>A p.A1207T missense 0.00285249●●●●●●
12. 100366260 c.3431T>A p.I1144N missense 0.00173788●●●●●●
13. 100382236 c.4430C>G p.T1477S missense 0.00154370●●●●●●
14. 100349757 c.2390A>G p.N797S missense 0.00152913●●●●●●
15. 100382037 c.4331A>G p.N1444S missense 0.00099898●●●●●●
16. 100342049 c.1319C>T p.S440F missense 0.00098385●●●●●●
17. 100358107 c.3203A>G p.Y1068C missense 0.00068538●●●●●●
18. 100327853 c.334A>G p.I112V missense 0.00061773●●●●●●
19. 100376331 c.3764A>G p.N1255S missense 0.00055569●●●●●●
20. 100346337 c.1885G>A p.E629K missense 0.00052733●●●●●●
21. 100379160 c.4027G>A p.E1343K missense 0.00050357●●●●●●
22. 100346211 c.1759C>T p.H587Y missense 0.00048611●●●●●●
23. 100340252 c.968G>A p.R323Q missense 0.00046412●●●●●●
24. 100327863 c.344T>C p.V115A missense 0.00044477●●●●●●
25. 100340312 c.1028G>A p.R343Q missense 0.00043730●●●●●●
26. 100346262 c.1810T>G p.F604V missense 0.00038720●●●●●●
27. 100327962 c.443G>A p.R148K missense 0.00038711●●●●●●
28. 100368318 c.3668G>A p.G1223D missense 0.00027494●●●●●●
29. 100336321 c.854G>A p.R285Q missense 0.00024979●●●●●●
30. 100356904 c.2941A>G p.I981V missense 0.00020649●●●●●●
31. 100347158 c.2219A>G p.H740R missense 0.00020599●●●●●●
32. 100336354 c.887T>G p.L296R missense 0.00020141●●●●●●
33. 100380997 c.4214A>G p.E1405G missense 0.00019836●●●●●●
34. 100379185 c.4052A>G p.K1351R missense 0.00019793●●●●●●
35. 100346668 c.1936A>G p.I646V missense 0.00018140●●●●●●
36. 100347187 c.2248G>T p.A750S missense 0.00018129●●●●●●
37. 100380972 c.4189G>A p.A1397T missense 0.00017383●●●●●●
38. 100347131 c.2192C>T p.A731V missense 0.00015654●●●●●●
39. 100343205 c.1432G>A p.V478I missense 0.00014037●●●●●●
40. 100342135 c.1405C>G p.R469G missense 0.00012371●●●●●●
41. 100382185 c.4379G>A p.R1460H missense 0.00011779●●●●●●
42. 100382256 c.4450G>A p.V1484I missense 0.00011603●●●●●●
43. 100378008 c.3884G>A p.R1295H missense 0.00011571●●●●●●
44. 100380969 c.4186A>G p.K1396E missense 0.00010764●●●●●●
45. 100353581 c.2729G>A p.R910Q missense 0.00010728●●●●●●
46. 100379209 c.4076G>A p.R1359H missense 0.00010718●●●●●●
47. 100361872 c.3290G>A p.R1097H missense 0.00010707●●●●●●
48. 100356893 c.2930G>A p.R977Q missense 0.00009909●●●●●●
49. 100340360 c.1076C>T p.P359L missense 0.00009903●●●●●●
50. 100349958 c.2497C>A p.Q833K missense 0.00009257●●●●●●
51. 100342063 c.1333A>G p.M445V missense 0.00009104●●●●●●
52. 100327112 c.136G>T p.V46L missense 0.00009092●●●●●●
53. 100327217 c.241T>C p.C81R missense 0.00009087●●●●●●
54. 100347159 c.2220T>A p.H740Q missense 0.00009063●●●●●●
55. 100366413 c.3584C>G p.T1195R missense 0.00009061●●●●●●
56. 100327844 c.325G>T p.V109L missense 0.00009060●●●●●●
57. 100366280 c.3451C>T p.R1151W missense 0.00009060●●●●●●
58. 100340989 c.1261A>G p.R421G missense 0.00008260●●●●●●
59. 100350235 c.2657C>T p.P886L missense 0.00008252●●●●●●
60. 100382006 c.4300A>G p.N1434D missense 0.00007492●●●●●●
61. 100357238 c.3026C>T p.A1009V missense 0.00007419●●●●●●
62. 100346281 c.1829G>A p.R610K missense 0.00007415●●●●●●
63. 100381977 c.4271A>T p.Y1424F missense 0.00006735●●●●●●
64. 100327164 c.188G>A p.R63H missense 0.00006607●●●●●●
65. 100340348 c.1064C>T p.T355M missense 0.00006599●●●●●●
66. 100340954 c.1226T>G p.L409R missense 0.00006599●●●●●●
67. 100330103 c.622T>C p.W208R missense 0.00006598●●●●●●
68. 100379208 c.4075C>T p.R1359C missense 0.00006595●●●●●●
69. 100336057 c.766C>T p.R256C missense 0.00006591●●●●●●
70. 100382266 c.4460G>A p.R1487Q missense 0.00005799●●●●●●
71. 100330121 c.640A>G p.T214A missense 0.00005780●●●●●●
72. 100336058 c.767G>A p.R256H missense 0.00005767●●●●●●
73. 100349947 c.2486A>G p.N829S missense 0.00005032●●●●●●
74. 100336378 c.911T>C p.V304A missense 0.00005026●●●●●●
75. 100382257 c.4451T>G p.V1484G missense 0.00004972●●●●●●
76. 100349720 c.2353A>G p.N785D missense 0.00004965●●●●●●
77. 100347247 c.2308G>C p.G770R missense 0.00004952●●●●●●
78. 100346665 c.1933A>G p.T645A missense 0.00004947●●●●●●
79. 100350006 c.2545A>G p.R849G missense 0.00004372●●●●●●
80. 100349949 c.2488G>C p.E830Q missense 0.00004196●●●●●●
81. 100368293 c.3643A>G p.I1215V missense 0.00004160●●●●●●
82. 100340783 c.1156C>T p.H386Y missense 0.00004149●●●●●●
83. 100379118 c.3985A>G p.R1329G missense 0.00004149●●●●●●
84. 100382268 c.4462C>T p.H1488Y missense 0.00004142●●●●●●
85. 100346878 c.2032A>G p.T678A missense 0.00004132●●●●●●
86. 100380990 c.4207A>T p.I1403F missense 0.00004132●●●●●●
87. 100350169 c.2591G>A p.R864Q missense 0.00004131●●●●●●
88. 100327200 c.224A>G p.D75G missense 0.00004130●●●●●●
89. 100356893 c.2930G>T p.R977L missense 0.00004129●●●●●●
90. 100358077 c.3173T>G p.I1058S missense 0.00004127●●●●●●
91. 100343325 c.1552A>G p.T518A missense 0.00004125●●●●●●
92. 100353623 c.2771A>C p.D924A missense 0.00004125●●●●●●
93. 100357178 c.2966A>G p.Q989R missense 0.00004124●●●●●●
94. 100340326 c.1042G>A p.V348I missense 0.00004124●●●●●●
95. 100342136 c.1406G>A p.R469Q missense 0.00004124●●●●●●
96. 100343310 c.1537A>T p.T513S missense 0.00004123●●●●●●
97. 100346707 c.1975G>A p.G659S missense 0.00004122●●●●●●
98. 100346347 c.1895T>C p.I632T missense 0.00004120●●●●●●
99. 100347161 c.2222A>G p.Q741R missense 0.00004120●●●●●●
100. 100346316 c.1864A>C p.M622L missense 0.00004120●●●●●●
101. 100366265 c.3436G>A p.A1146T missense 0.00004118●●●●●●
102. 100368333 c.3683G>A p.R1228Q missense 0.00003342●●●●●●
103. 100382046 c.4340A>G p.Q1447R missense 0.00003336●●●●●●
104. 100382245 c.4439T>G p.L1480W missense 0.00003317●●●●●●
105. 100379134 c.4001A>G p.N1334S missense 0.00003310●●●●●●
106. 100346935 c.2089G>T p.G697C missense 0.00003309●●●●●●
107. 100350154 c.2576C>T p.A859V missense 0.00003308●●●●●●
108. 100346920 c.2074G>A p.V692I missense 0.00003308●●●●●●
109. 100346860 c.2014T>G p.S672A missense 0.00003306●●●●●●
110. 100356907 c.2944G>A p.A982T missense 0.00003305●●●●●●
111. 100327121 c.145A>G p.N49D missense 0.00003304●●●●●●
112. 100356880 c.2917C>T p.R973W missense 0.00003302●●●●●●
113. 100358068 c.3164C>G p.S1055C missense 0.00003302●●●●●●
114. 100350226 c.2648A>G p.N883S missense 0.00003301●●●●●●
115. 100346641 c.1909G>A p.A637T missense 0.00003299●●●●●●
116. 100346671 c.1939G>A p.V647I missense 0.00003298●●●●●●
117. 100345561 c.1694A>G p.N565S missense 0.00003296●●●●●●
118. 100329996 c.515G>C p.C172S missense 0.00003296●●●●●●
119. 100361929 c.3347G>A p.R1116H missense 0.00003295●●●●●●
120. 100336027 c.736C>G p.P246A missense 0.00003295●●●●●●
121. 100327860 c.341G>A p.R114H missense 0.00003295●●●●●●
122. 100330046 c.565A>G p.N189D missense 0.00003295●●●●●●
123. 100361871 c.3289C>T p.R1097C missense 0.00003295●●●●●●
124. 100376354 c.3787A>G p.M1263V missense 0.00002562●●●●●●
125. 100368347 c.3697G>A p.E1233K missense 0.00002559●●●●●●
126. 100382156 c.4350G>C p.E1450D missense 0.00002546●●●●●●
127. 100381972 c.4266G>T p.M1422I missense 0.00002539●●●●●●
128. 100382188 c.4382C>G p.A1461G missense 0.00002521●●●●●●
129. 100381988 c.4282T>C p.Y1428H missense 0.00002508●●●●●●
130. 100336362 c.895T>A p.W299R missense 0.00002506●●●●●●
131. 100368303 c.3653G>A p.R1218Q missense 0.00002498●●●●●●
132. 100368285 c.3635T>C p.M1212T missense 0.00002496●●●●●●
133. 100327077 c.101G>A p.R34Q missense 0.00002491●●●●●●
134. 100343376 c.1603G>A p.V535I missense 0.00002485●●●●●●
135. 100350153 c.2575G>A p.A859T missense 0.00002482●●●●●●
136. 100380993 c.4210G>A p.A1404T missense 0.00002480●●●●●●
137. 100327112 c.136G>A p.V46M missense 0.00002480●●●●●●
138. 100349775 c.2408C>G p.T803R missense 0.00002480●●●●●●
139. 100346905 c.2059T>G p.S687A missense 0.00002479●●●●●●
140. 100346870 c.2024G>A p.R675Q missense 0.00002479●●●●●●
141. 100327163 c.187C>T p.R63C missense 0.00002478●●●●●●
142. 100327196 c.220G>A p.E74K missense 0.00002478●●●●●●
143. 100358070 c.3166C>G p.L1056V missense 0.00002477●●●●●●
144. 100358059 c.3155A>G p.K1052R missense 0.00002477●●●●●●
145. 100342151 c.1421C>T p.P474L missense 0.00002476●●●●●●
146. 100340323 c.1039A>G p.T347A missense 0.00002475●●●●●●
147. 100340969 c.1241C>T p.P414L missense 0.00002475●●●●●●
148. 100340334 c.1050G>A p.M350I missense 0.00002474●●●●●●
149. 100340333 c.1049T>C p.M350T missense 0.00002474●●●●●●
150. 100379235 c.4102G>A p.A1368T missense 0.00002473●●●●●●
151. 100336015 c.724C>G p.P242A missense 0.00002472●●●●●●
152. 100330007 c.526G>A p.A176T missense 0.00002472●●●●●●
153. 100346199 c.1747G>A p.A583T missense 0.00002472●●●●●●
154. 100343253 c.1480C>T p.R494C missense 0.00002472●●●●●●
155. 100361919 c.3337A>G p.I1113V missense 0.00002471●●●●●●
156. 100327829 c.310G>A p.G104R missense 0.00002471●●●●●●
157. 100361928 c.3346C>T p.R1116C missense 0.00002471●●●●●●
158. 100327887 c.368C>T p.P123L missense 0.00002471●●●●●●
159. 100327859 c.340C>T p.R114C missense 0.00002471●●●●●●
160. 100327830 c.311G>T p.G104V missense 0.00002471●●●●●●
161. 100327961 c.442A>G p.R148G missense 0.00002471●●●●●●
162. 100376294 c.3727G>A p.E1243K missense 0.00001777●●●●●●
163. 100376397 c.3830C>T p.T1277I missense 0.00001734●●●●●●
164. 100349983 c.2522C>A p.S841Y missense 0.00001714●●●●●●
165. 100376331 c.3764A>C p.N1255T missense 0.00001710●●●●●●
166. 100336331 c.864T>G p.I288M missense 0.00001699●●●●●●
167. 100382159 c.4353G>T p.W1451C missense 0.00001696●●●●●●
168. 100349969 c.2508A>T p.E836D missense 0.00001694●●●●●●
169. 100336339 c.872A>G p.D291G missense 0.00001688●●●●●●
170. 100381977 c.4271A>G p.Y1424C missense 0.00001684●●●●●●
171. 100336393 c.926C>T p.A309V missense 0.00001682●●●●●●
172. 100381979 c.4273T>C p.C1425R missense 0.00001680●●●●●●
173. 100336352 c.885G>C p.K295N missense 0.00001679●●●●●●
174. 100342051 c.1321A>G p.M441V missense 0.00001674●●●●●●
175. 100327059 c.83G>A p.G28E missense 0.00001674●●●●●●
176. 100381989 c.4283A>C p.Y1428S missense 0.00001671●●●●●●
177. 100382218 c.4412C>T p.P1471L missense 0.00001668●●●●●●
178. 100382013 c.4307A>G p.N1436S missense 0.00001664●●●●●●
179. 100368263 c.3613C>G p.Q1205E missense 0.00001663●●●●●●
180. 100327077 c.101G>C p.R34P missense 0.00001661●●●●●●
181. 100340278 c.994C>T p.H332Y missense 0.00001660●●●●●●
182. 100382238 c.4432A>G p.I1478V missense 0.00001660●●●●●●
183. 100377964 c.3840T>G p.D1280E missense 0.00001659●●●●●●
184. 100382242 c.4436T>C p.V1479A missense 0.00001659●●●●●●
185. 100340784 c.1157A>G p.H386R missense 0.00001659●●●●●●
186. 100340799 c.1172A>G p.Y391C missense 0.00001659●●●●●●
187. 100346993 c.2147G>A p.G716D missense 0.00001656●●●●●●
188. 100381041 c.4258G>C p.D1420H missense 0.00001656●●●●●●
189. 100382278 c.4472A>G p.H1491R missense 0.00001656●●●●●●
190. 100346947 c.2101G>T p.A701S missense 0.00001655●●●●●●
191. 100346935 c.2089G>A p.G697S missense 0.00001655●●●●●●
192. 100349785 c.2418T>G p.I806M missense 0.00001654●●●●●●
193. 100327241 c.265G>T p.G89C missense 0.00001654●●●●●●
194. 100343197 c.1424G>T p.G475V missense 0.00001654●●●●●●
195. 100349797 c.2430T>G p.I810M missense 0.00001654●●●●●●
196. 100380978 c.4195A>G p.K1399E missense 0.00001654●●●●●●
197. 100358146 c.3242G>C p.C1081S missense 0.00001654●●●●●●
198. 100387182 c.4574T>C p.I1525T missense 0.00001653●●●●●●
199. 100387172 c.4564A>G p.I1522V missense 0.00001653●●●●●●
200. 100357999 c.3095A>G p.N1032S missense 0.00001653●●●●●●
201. 100387122 c.4514A>G p.N1505S missense 0.00001653●●●●●●
202. 100356898 c.2935G>A p.G979R missense 0.00001652●●●●●●
203. 100329942 c.461G>A p.G154D missense 0.00001652●●●●●●
204. 100353546 c.2694A>T p.R898S missense 0.00001651●●●●●●
205. 100358037 c.3133G>C p.V1045L missense 0.00001651●●●●●●
206. 100356859 c.2896A>T p.M966L missense 0.00001651●●●●●●
207. 100340362 c.1078C>T p.H360Y missense 0.00001651●●●●●●
208. 100358028 c.3124T>G p.L1042V missense 0.00001651●●●●●●
209. 100353575 c.2723T>G p.L908R missense 0.00001651●●●●●●
210. 100330105 c.624G>C p.W208C missense 0.00001650●●●●●●
211. 100343216 c.1443G>C p.R481S missense 0.00001650●●●●●●
212. 100379173 c.4040A>G p.D1347G missense 0.00001650●●●●●●
213. 100346635 c.1903A>G p.R635G missense 0.00001650●●●●●●
214. 100340963 c.1235A>G p.H412R missense 0.00001650●●●●●●
215. 100340969 c.1241C>A p.P414Q missense 0.00001650●●●●●●
216. 100346644 c.1912T>C p.Y638H missense 0.00001650●●●●●●
217. 100346711 c.1979A>C p.Y660S missense 0.00001649●●●●●●
218. 100343316 c.1543A>G p.I515V missense 0.00001649●●●●●●
219. 100342125 c.1395T>G p.D465E missense 0.00001649●●●●●●
220. 100335971 c.680G>T p.W227L missense 0.00001649●●●●●●
221. 100343308 c.1535A>T p.Y512F missense 0.00001649●●●●●●
222. 100342118 c.1388T>A p.M463K missense 0.00001649●●●●●●
223. 100357283 c.3071A>G p.K1024R missense 0.00001649●●●●●●
224. 100357261 c.3049A>T p.T1017S missense 0.00001649●●●●●●
225. 100336105 c.814C>A p.P272T missense 0.00001649●●●●●●
226. 100346197 c.1745G>A p.S582N missense 0.00001648●●●●●●
227. 100345510 c.1643C>G p.P548R missense 0.00001648●●●●●●
228. 100345564 c.1697T>A p.V566D missense 0.00001648●●●●●●
229. 100366196 c.3367A>G p.I1123V missense 0.00001648●●●●●●
230. 100346219 c.1767G>C p.E589D missense 0.00001648●●●●●●
231. 100346238 c.1786T>C p.Y596H missense 0.00001648●●●●●●
232. 100316672 c.74T>G p.L25R missense 0.00001648●●●●●●
233. 100316638 c.40G>A p.E14K missense 0.00001648●●●●●●
234. 100347158 c.2219A>C p.H740P missense 0.00001648●●●●●●
235. 100336045 c.754A>G p.R252G missense 0.00001648●●●●●●
236. 100346326 c.1874C>T p.T625M missense 0.00001648●●●●●●
237. 100335992 c.701G>A p.C234Y missense 0.00001648●●●●●●
238. 100327887 c.368C>A p.P123H missense 0.00001647●●●●●●
239. 100327886 c.367C>G p.P123A missense 0.00001647●●●●●●
240. 100327931 c.412G>A p.G138R missense 0.00001647●●●●●●
241. 100327892 c.373G>A p.D125N missense 0.00001647●●●●●●
242. 100361898 c.3316G>A p.A1106T missense 0.00001647●●●●●●
243. 100327878 c.359A>G p.H120R missense 0.00001647●●●●●●
244. 100366379 c.3550C>A p.P1184T missense 0.00001647●●●●●●
245. 100327904 c.385C>G p.L129V missense 0.00001647●●●●●●
246. 100376291 c.3724G>A p.D1242N missense 0.00000896●●●●●●
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496. 100379218 c.4085A>G p.Y1362C missense 0.00000824●●●●●●
497. 100316662 c.64C>T p.L22F missense 0.00000824●●●●●●
498. 100366394 c.3565G>C p.A1189P missense 0.00000824●●●●●●
499. 100347205 c.2266A>G p.T756A missense 0.00000824●●●●●●
500. 100361890 c.3308C>G p.T1103S missense 0.00000824●●●●●●
501. 100347098 c.2159T>C p.V720A missense 0.00000824●●●●●●
502. 100345489 c.1622A>G p.D541G missense 0.00000824●●●●●●
503. 100327965 c.446T>C p.V149A missense 0.00000824●●●●●●
504. 100346347 c.1895T>A p.I632N missense 0.00000824●●●●●●
505. 100327848 c.329A>G p.D110G missense 0.00000824●●●●●●
506. 100327896 c.377G>A p.C126Y missense 0.00000824●●●●●●
507. 100336030 c.739G>T p.A247S missense 0.00000824●●●●●●
508. 100379259 c.4126C>G p.Q1376E missense 0.00000824●●●●●●
509. 100366377 c.3548A>G p.Y1183C missense 0.00000824●●●●●●
510. 100316603 c.5G>A p.G2E missense 0.00000824●●●●●●
511. 100361929 c.3347G>C p.R1116P missense 0.00000824●●●●●●
512. 100347144 c.2205C>G p.H735Q missense 0.00000824●●●●●●
513. 100345584 c.1717A>T p.I573F missense 0.00000824●●●●●●
514. 100345569 c.1702G>T p.V568F missense 0.00000824●●●●●●
515. 100330054 c.573G>C p.K191N missense 0.00000824●●●●●●
516. 100316636 c.38A>G p.N13S missense 0.00000824●●●●●●
517. 100361865 c.3283A>C p.I1095L missense 0.00000824●●●●●●
518. 100327815 c.296A>G p.N99S missense 0.00000824●●●●●●
519. 100343268 c.1495C>T p.P499S missense 0.00000824●●●●●●
520. 100346341 c.1889G>T p.C630F missense 0.00000824●●●●●●
521. 100347170 c.2231T>C p.V744A missense 0.00000824●●●●●●
522. 100346230 c.1778T>C p.V593A missense 0.00000824●●●●●●
523. 100379233 c.4100G>A p.G1367E missense 0.00000824●●●●●●
524. 100366343 c.3514C>G p.L1172V missense 0.00000824●●●●●●
525. 100316662 c.64C>G p.L22V missense 0.00000824●●●●●●
526. 100366410 c.3581G>A p.G1194D missense 0.00000824●●●●●●
527. 100366294 c.3465G>T p.W1155C missense 0.00000824●●●●●●
528. 100345492 c.1625C>T p.A542V missense 0.00000824●●●●●●
529. 100327941 c.422A>G p.D141G missense 0.00000824●●●●●●
530. 100346298 c.1846A>G p.I616V missense 0.00000824●●●●●●
531. 100347116 c.2177A>G p.D726G missense 0.00000824●●●●●●
532. 100357294 c.3082A>G p.S1028G missense 0.00000824●●●●●●
533. 100346284 c.1832C>A p.P611H missense 0.00000824●●●●●●
534. 100336046 c.755G>T p.R252I missense 0.00000824●●●●●●
535. 100379259 c.4126C>A p.Q1376K missense 0.00000824●●●●●●
536. 100366388 c.3559G>T p.D1187Y missense 0.00000824●●●●●●
537. 100366281 c.3452G>A p.R1151Q missense 0.00000824●●●●●●
538. 100366214 c.3385G>T p.G1129C missense 0.00000824●●●●●●
539. 100345596 c.1729A>G p.I577V missense 0.00000824●●●●●●
540. 100361842 c.3260G>A p.G1087D missense 0.00000824●●●●●●
541. 100366248 c.3419T>G p.L1140R missense 0.00000824●●●●●●
542. 100343275 c.1502A>T p.D501V missense 0.00000824●●●●●●
543. 100343254 c.1481G>C p.R494P missense 0.00000824●●●●●●
544. 100327817 c.298G>A p.E100K missense 0.00000824●●●●●●
545. 100330085 c.604G>A p.E202K missense 0.00000824●●●●●●
546. 100357223 c.3011C>T p.P1004L missense 0.00000824●●●●●●
547. 100346341 c.1889G>A p.C630Y missense 0.00000824●●●●●●
548. 100316669 c.71G>T p.R24I missense 0.00000824●●●●●●
549. 100366331 c.3502G>T p.V1168F missense 0.00000824●●●●●●
550. 100346244 c.1792G>C p.G598R missense 0.00000824●●●●●●
551. 100346233 c.1781A>G p.Y594C missense 0.00000824●●●●●●
552. 100366348 c.3519C>G p.D1173E 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.