ABCC8 missense variants in ExAC

ABCC8 gene summary
ABCC8 variants in

The table below lists the ABCC8 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. 17418477 c.4105G>T p.A1369S missense 0.64305177●●●●●●
2. 17414570 c.4714G>A p.V1572I missense 0.05620619●●●●●●
3. 17414581 c.4703G>A p.R1568Q missense 0.00085800●●●●●●
4. 17464808 c.1384A>G p.I462V missense 0.00084023●●●●●●
5. 17450177 c.1858C>T p.R620C missense 0.00082480●●●●●●
6. 17452500 c.1678G>A p.V560M missense 0.00077507●●●●●●
7. 17449918 c.1958G>A p.R653Q missense 0.00070616●●●●●●
8. 17470143 c.1252T>C p.C418R missense 0.00064245●●●●●●
9. 17485077 c.487G>A p.G163S missense 0.00056076●●●●●●
10. 17474779 c.1063G>A p.A355T missense 0.00046136●●●●●●
11. 17415289 c.4563G>T p.K1521N missense 0.00046129●●●●●●
12. 17448642 c.2176G>A p.A726T missense 0.00042076●●●●●●
13. 17428295 c.3203C>T p.T1068M missense 0.00033779●●●●●●
14. 17491717 c.343A>G p.M115V missense 0.00029691●●●●●●
15. 17449470 c.2060C>T p.T687M missense 0.00024208●●●●●●
16. 17482222 c.824G>A p.R275Q missense 0.00023574●●●●●●
17. 17416805 c.4325A>T p.E1442V missense 0.00022185●●●●●●
18. 17428933 c.2888A>G p.D963G missense 0.00021415●●●●●●
19. 17485004 c.560T>A p.V187D missense 0.00021233●●●●●●
20. 17450161 c.1874C>T p.A625V missense 0.00017317●●●●●●
21. 17418492 c.4090G>A p.V1364I missense 0.00017307●●●●●●
22. 17483263 c.689A>G p.Y230C missense 0.00015649●●●●●●
23. 17449426 c.2104C>T p.R702C missense 0.00015277●●●●●●
24. 17482154 c.892C>T p.R298C missense 0.00014104●●●●●●
25. 17418752 c.3976G>A p.E1326K missense 0.00014032●●●●●●
26. 17498262 c.62T>A p.V21D missense 0.00013617●●●●●●
27. 17482192 c.854G>A p.R285Q missense 0.00012517●●●●●●
28. 17424241 c.3617C>T p.T1206I missense 0.00012355●●●●●●
29. 17428668 c.2929G>A p.A977T missense 0.00012266●●●●●●
30. 17426123 c.3493G>A p.V1165M missense 0.00011584●●●●●●
31. 17450116 c.1919C>T p.A640V missense 0.00011558●●●●●●
32. 17434269 c.2500C>T p.R834C missense 0.00010899●●●●●●
33. 17414594 c.4690A>G p.K1564E missense 0.00010727●●●●●●
34. 17434982 c.2434G>A p.D812N missense 0.00010707●●●●●●
35. 17464335 c.1562G>A p.R521Q missense 0.00009898●●●●●●
36. 17453779 c.1643C>T p.T548M missense 0.00009258●●●●●●
37. 17482193 c.853C>T p.R285W missense 0.00009183●●●●●●
38. 17428485 c.3112G>A p.D1038N missense 0.00009088●●●●●●
39. 17448609 c.2209G>A p.V737I missense 0.00009074●●●●●●
40. 17464342 c.1555C>T p.R519C missense 0.00009074●●●●●●
41. 17417419 c.4178G>A p.R1393H missense 0.00008732●●●●●●
42. 17491762 c.298G>A p.E100K missense 0.00008260●●●●●●
43. 17491685 c.375C>G p.H125Q missense 0.00008245●●●●●●
44. 17436878 c.2264G>A p.R755Q missense 0.00007785●●●●●●
45. 17436872 c.2270C>G p.T757R missense 0.00006700●●●●●●
46. 17419957 c.3682G>A p.E1228K missense 0.00006602●●●●●●
47. 17432127 c.2630G>A p.R877Q missense 0.00006589●●●●●●
48. 17424218 c.3640C>T p.R1214W missense 0.00006589●●●●●●
49. 17432122 c.2635G>A p.D879N missense 0.00006589●●●●●●
50. 17436059 c.2390G>A p.R797Q missense 0.00006589●●●●●●
51. 17416788 c.4342A>G p.S1448G missense 0.00006390●●●●●●
52. 17449907 c.1969C>T p.R657W missense 0.00005814●●●●●●
53. 17428952 c.2869C>G p.R957G missense 0.00005766●●●●●●
54. 17432128 c.2629C>T p.R877W missense 0.00005765●●●●●●
55. 17491753 c.307C>T p.H103Y missense 0.00004954●●●●●●
56. 17428260 c.3238G>A p.V1080I missense 0.00004944●●●●●●
57. 17464823 c.1369G>A p.G457R missense 0.00004943●●●●●●
58. 17436060 c.2389C>T p.R797W missense 0.00004942●●●●●●
59. 17453751 c.1671A>G p.I557M missense 0.00004628●●●●●●
60. 17417179 c.4285G>A p.V1429I missense 0.00004527●●●●●●
61. 17417182 c.4282C>T p.P1428S missense 0.00004499●●●●●●
62. 17417244 c.4220T>C p.I1407T missense 0.00004413●●●●●●
63. 17417217 c.4247C>T p.T1416I missense 0.00004319●●●●●●
64. 17485011 c.553G>A p.V185M missense 0.00004278●●●●●●
65. 17464386 c.1511G>A p.R504H missense 0.00004131●●●●●●
66. 17464338 c.1559C>T p.T520M missense 0.00004124●●●●●●
67. 17483158 c.794G>A p.R265Q missense 0.00004119●●●●●●
68. 17428952 c.2869C>T p.R957C missense 0.00004118●●●●●●
69. 17434994 c.2422C>A p.Q808K missense 0.00004118●●●●●●
70. 17426203 c.3413C>T p.T1138M missense 0.00003413●●●●●●
71. 17419239 c.3859G>A p.A1287T missense 0.00003409●●●●●●
72. 17428622 c.2975G>A p.R992H missense 0.00003339●●●●●●
73. 17428596 c.3001G>A p.A1001T missense 0.00003324●●●●●●
74. 17419323 c.3775G>A p.V1259M missense 0.00003324●●●●●●
75. 17418851 c.3877T>G p.Y1293D missense 0.00003323●●●●●●
76. 17474818 c.1024G>A p.G342R missense 0.00003310●●●●●●
77. 17496515 c.208G>A p.G70R missense 0.00003299●●●●●●
78. 17464326 c.1571C>T p.T524M missense 0.00003299●●●●●●
79. 17464336 c.1561C>T p.R521W missense 0.00003299●●●●●●
80. 17491657 c.403C>G p.L135V missense 0.00003298●●●●●●
81. 17434224 c.2545G>A p.V849I missense 0.00003297●●●●●●
82. 17464735 c.1457G>A p.R486Q missense 0.00003296●●●●●●
83. 17428323 c.3175G>A p.D1059N missense 0.00003296●●●●●●
84. 17418574 c.4008G>C p.K1336N missense 0.00003295●●●●●●
85. 17474719 c.1123G>A p.A375T missense 0.00003295●●●●●●
86. 17470206 c.1189A>C p.N397H missense 0.00003295●●●●●●
87. 17424245 c.3613G>A p.E1205K missense 0.00003295●●●●●●
88. 17498320 c.4C>T p.P2S missense 0.00002793●●●●●●
89. 17417462 c.4135C>T p.R1379C missense 0.00002663●●●●●●
90. 17417456 c.4141G>A p.G1381S missense 0.00002648●●●●●●
91. 17417450 c.4147G>A p.G1383R missense 0.00002617●●●●●●
92. 17449425 c.2105G>A p.R702H missense 0.00002546●●●●●●
93. 17428637 c.2960C>T p.S987F missense 0.00002532●●●●●●
94. 17428190 c.3308G>A p.R1103Q missense 0.00002531●●●●●●
95. 17449952 c.1924C>T p.P642S missense 0.00002501●●●●●●
96. 17428617 c.2980G>A p.E994K missense 0.00002501●●●●●●
97. 17482185 c.861C>G p.I287M missense 0.00002500●●●●●●
98. 17449933 c.1943G>A p.R648H missense 0.00002494●●●●●●
99. 17449919 c.1957C>T p.R653W missense 0.00002492●●●●●●
100. 17415835 c.4523C>T p.T1508M missense 0.00002488●●●●●●
101. 17418476 c.4106C>T p.A1369V missense 0.00002480●●●●●●
102. 17415881 c.4477C>T p.R1493W missense 0.00002479●●●●●●
103. 17418790 c.3938G>A p.R1313H missense 0.00002478●●●●●●
104. 17414551 c.4733G>A p.R1578H missense 0.00002474●●●●●●
105. 17450149 c.1886C>T p.P629L missense 0.00002474●●●●●●
106. 17450153 c.1882G>A p.E628K missense 0.00002474●●●●●●
107. 17496473 c.250G>A p.V84I missense 0.00002473●●●●●●
108. 17429962 c.2797C>G p.R933G missense 0.00002473●●●●●●
109. 17436144 c.2305G>A p.V769M missense 0.00002473●●●●●●
110. 17429986 c.2773G>C p.E925Q missense 0.00002473●●●●●●
111. 17430006 c.2753G>A p.R918K missense 0.00002473●●●●●●
112. 17483138 c.814G>A p.A272T missense 0.00002472●●●●●●
113. 17483332 c.620C>T p.P207L missense 0.00002472●●●●●●
114. 17424217 c.3641G>A p.R1214Q missense 0.00002471●●●●●●
115. 17452455 c.1723G>A p.V575M missense 0.00002471●●●●●●
116. 17470125 c.1270G>A p.D424N missense 0.00002471●●●●●●
117. 17483305 c.647G>A p.R216H missense 0.00002471●●●●●●
118. 17428970 c.2851C>G p.P951A missense 0.00002471●●●●●●
119. 17474775 c.1067A>G p.Y356C missense 0.00002471●●●●●●
120. 17424280 c.3578A>T p.D1193V missense 0.00002471●●●●●●
121. 17470130 c.1265C>T p.A422V missense 0.00002471●●●●●●
122. 17436067 c.2382C>G p.N794K missense 0.00002471●●●●●●
123. 17483239 c.713A>G p.K238R missense 0.00002471●●●●●●
124. 17483209 c.743G>A p.R248Q missense 0.00002471●●●●●●
125. 17483294 c.658C>G p.P220A missense 0.00002471●●●●●●
126. 17483243 c.709A>G p.I237V missense 0.00002471●●●●●●
127. 17428314 c.3184G>A p.V1062I missense 0.00002471●●●●●●
128. 17436869 c.2273C>T p.A758V missense 0.00002251●●●●●●
129. 17436869 c.2273C>G p.A758G missense 0.00002251●●●●●●
130. 17436876 c.2266G>A p.E756K missense 0.00002224●●●●●●
131. 17436878 c.2264G>T p.R755L missense 0.00002224●●●●●●
132. 17436879 c.2263C>T p.R755W missense 0.00002223●●●●●●
133. 17434268 c.2501G>A p.R834H missense 0.00002181●●●●●●
134. 17434230 c.2539G>A p.A847T missense 0.00002157●●●●●●
135. 17434230 c.2539G>T p.A847S missense 0.00002157●●●●●●
136. 17485109 c.455T>C p.I152T missense 0.00002077●●●●●●
137. 17498233 c.91C>T p.L31F missense 0.00001887●●●●●●
138. 17485083 c.481G>T p.A161S missense 0.00001871●●●●●●
139. 17485065 c.499C>G p.L167V missense 0.00001739●●●●●●
140. 17426156 c.3460G>A p.A1154T missense 0.00001729●●●●●●
141. 17428640 c.2957C>T p.S986L missense 0.00001695●●●●●●
142. 17498293 c.31C>T p.H11Y missense 0.00001685●●●●●●
143. 17482223 c.823C>T p.R275W missense 0.00001685●●●●●●
144. 17496569 c.154G>A p.G52R missense 0.00001674●●●●●●
145. 17448698 c.2120A>G p.Q707R missense 0.00001674●●●●●●
146. 17428622 c.2975G>C p.R992P missense 0.00001670●●●●●●
147. 17428620 c.2977G>A p.A993T missense 0.00001669●●●●●●
148. 17449859 c.2017G>A p.D673N missense 0.00001666●●●●●●
149. 17428614 c.2983A>G p.I995V missense 0.00001666●●●●●●
150. 17449895 c.1981G>A p.G661S missense 0.00001664●●●●●●
151. 17428604 c.2993G>A p.R998Q missense 0.00001663●●●●●●
152. 17449898 c.1978A>G p.T660A missense 0.00001662●●●●●●
153. 17448680 c.2138G>T p.G713V missense 0.00001660●●●●●●
154. 17428575 c.3022G>A p.G1008S missense 0.00001659●●●●●●
155. 17482153 c.893G>A p.R298H missense 0.00001659●●●●●●
156. 17419977 c.3662G>A p.R1221Q missense 0.00001657●●●●●●
157. 17450216 c.1819G>A p.V607M missense 0.00001657●●●●●●
158. 17428563 c.3034C>A p.L1012M missense 0.00001657●●●●●●
159. 17414656 c.4628T>C p.L1543P missense 0.00001656●●●●●●
160. 17448666 c.2152G>A p.G718S missense 0.00001655●●●●●●
161. 17415847 c.4511T>C p.M1504T missense 0.00001655●●●●●●
162. 17428524 c.3073G>A p.V1025I missense 0.00001653●●●●●●
163. 17415880 c.4478G>T p.R1493L missense 0.00001653●●●●●●
164. 17415872 c.4486G>A p.V1496M missense 0.00001653●●●●●●
165. 17482073 c.973G>A p.D325N missense 0.00001652●●●●●●
166. 17414627 c.4657C>T p.R1553W missense 0.00001652●●●●●●
167. 17450201 c.1834G>A p.E612K missense 0.00001652●●●●●●
168. 17428463 c.3134C>T p.P1045L missense 0.00001652●●●●●●
169. 17448599 c.2219G>A p.S740N missense 0.00001652●●●●●●
170. 17428479 c.3118G>A p.A1040T missense 0.00001652●●●●●●
171. 17491747 c.313C>T p.H105Y missense 0.00001651●●●●●●
172. 17482052 c.994G>A p.D332N missense 0.00001651●●●●●●
173. 17414606 c.4678G>A p.D1560N missense 0.00001651●●●●●●
174. 17482050 c.996C>A p.D332E missense 0.00001651●●●●●●
175. 17464360 c.1537G>A p.A513T missense 0.00001650●●●●●●
176. 17448612 c.2206G>T p.A736S missense 0.00001650●●●●●●
177. 17426099 c.3517G>A p.V1173M missense 0.00001650●●●●●●
178. 17491729 c.331G>A p.G111R missense 0.00001650●●●●●●
179. 17496445 c.278T>C p.I93T missense 0.00001649●●●●●●
180. 17426089 c.3527T>A p.F1176Y missense 0.00001649●●●●●●
181. 17429956 c.2803G>A p.D935N missense 0.00001649●●●●●●
182. 17496503 c.220C>T p.R74W missense 0.00001649●●●●●●
183. 17483347 c.605G>A p.R202K missense 0.00001649●●●●●●
184. 17464796 c.1396G>A p.V466I missense 0.00001648●●●●●●
185. 17464849 c.1343G>C p.G448A missense 0.00001648●●●●●●
186. 17464732 c.1460G>A p.S487N missense 0.00001648●●●●●●
187. 17418562 c.4020C>G p.D1340E missense 0.00001648●●●●●●
188. 17485058 c.506T>A p.F169Y missense 0.00001648●●●●●●
189. 17483324 c.628C>G p.L210V missense 0.00001648●●●●●●
190. 17464855 c.1337T>C p.I446T missense 0.00001648●●●●●●
191. 17474773 c.1069G>A p.V357I missense 0.00001648●●●●●●
192. 17428310 c.3188A>G p.Y1063C missense 0.00001648●●●●●●
193. 17452463 c.1715C>T p.S572L missense 0.00001648●●●●●●
194. 17428274 c.3224T>C p.I1075T missense 0.00001648●●●●●●
195. 17464763 c.1429G>A p.V477M missense 0.00001648●●●●●●
196. 17415245 c.4607C>T p.A1536V missense 0.00001648●●●●●●
197. 17434954 c.2462A>G p.Q821R missense 0.00001647●●●●●●
198. 17436105 c.2344A>C p.T782P missense 0.00001647●●●●●●
199. 17434969 c.2447A>G p.H816R missense 0.00001647●●●●●●
200. 17432141 c.2616C>G p.I872M missense 0.00001647●●●●●●
201. 17483201 c.751G>A p.G251R missense 0.00001647●●●●●●
202. 17470212 c.1183A>T p.I395F missense 0.00001647●●●●●●
203. 17427042 c.3398A>G p.Q1133R missense 0.00001647●●●●●●
204. 17432146 c.2611G>A p.G871S missense 0.00001647●●●●●●
205. 17474703 c.1139C>G p.A380G missense 0.00001647●●●●●●
206. 17428951 c.2870G>A p.R957H missense 0.00001647●●●●●●
207. 17432190 c.2567T>C p.F856S missense 0.00001647●●●●●●
208. 17483192 c.760C>T p.P254S missense 0.00001647●●●●●●
209. 17432091 c.2666A>C p.K889T missense 0.00001647●●●●●●
210. 17485038 c.526G>A p.V176M missense 0.00001518●●●●●●
211. 17485032 c.532C>T p.L178F missense 0.00001493●●●●●●
212. 17485005 c.559G>A p.V187I missense 0.00001416●●●●●●
213. 17498274 c.50T>C p.V17A missense 0.00001297●●●●●●
214. 17498272 c.52G>A p.D18N missense 0.00001260●●●●●●
215. 17436857 c.2285A>G p.D762G missense 0.00001167●●●●●●
216. 17436858 c.2284G>T p.D762Y missense 0.00001164●●●●●●
217. 17436861 c.2281T>A p.L761M missense 0.00001151●●●●●●
218. 17426201 c.3415C>A p.L1139M missense 0.00001124●●●●●●
219. 17436875 c.2267A>C p.E756A missense 0.00001113●●●●●●
220. 17498257 c.67A>G p.N23D missense 0.00001074●●●●●●
221. 17434262 c.2507G>A p.R836Q missense 0.00001073●●●●●●
222. 17434247 c.2522G>A p.R841Q missense 0.00001053●●●●●●
223. 17434250 c.2519C>T p.A840V missense 0.00001048●●●●●●
224. 17498250 c.74G>T p.G25V missense 0.00001022●●●●●●
225. 17426179 c.3437C>T p.T1146I missense 0.00000951●●●●●●
226. 17428661 c.2936G>A p.S979N missense 0.00000915●●●●●●
227. 17498185 c.139C>T p.L47F missense 0.00000911●●●●●●
228. 17498188 c.136A>T p.I46F missense 0.00000908●●●●●●
229. 17428655 c.2942A>G p.E981G missense 0.00000893●●●●●●
230. 17426159 c.3457C>A p.L1153M missense 0.00000869●●●●●●
231. 17428645 c.2952C>A p.N984K missense 0.00000856●●●●●●
232. 17426149 c.3467T>C p.I1156T missense 0.00000849●●●●●●
233. 17428191 c.3307C>T p.R1103W missense 0.00000841●●●●●●
234. 17419257 c.3841G>A p.G1281S missense 0.00000839●●●●●●
235. 17428193 c.3305A>C p.N1102T missense 0.00000839●●●●●●
236. 17428622 c.2975G>T p.R992L missense 0.00000835●●●●●●
237. 17482190 c.856G>T p.A286S missense 0.00000834●●●●●●
238. 17419275 c.3823C>T p.L1275F missense 0.00000833●●●●●●
239. 17449856 c.2020G>A p.A674T missense 0.00000833●●●●●●
240. 17415814 c.4544C>T p.T1515M missense 0.00000833●●●●●●
241. 17449943 c.1933G>A p.V645I missense 0.00000833●●●●●●
242. 17449883 c.1993A>T p.S665C missense 0.00000832●●●●●●
243. 17449870 c.2006G>T p.S669I missense 0.00000832●●●●●●
244. 17449895 c.1981G>T p.G661C missense 0.00000832●●●●●●
245. 17428604 c.2993G>C p.R998P missense 0.00000832●●●●●●
246. 17449885 c.1991A>G p.Q664R missense 0.00000832●●●●●●
247. 17449888 c.1988T>A p.L663Q missense 0.00000832●●●●●●
248. 17438502 c.2230G>T p.D744Y missense 0.00000831●●●●●●
249. 17438491 c.2241A>G p.I747M missense 0.00000831●●●●●●
250. 17428599 c.2998T>A p.C1000S missense 0.00000831●●●●●●
251. 17449909 c.1967G>T p.C656F missense 0.00000831●●●●●●
252. 17438497 c.2235C>A p.S745R missense 0.00000831●●●●●●
253. 17449934 c.1942C>T p.R648C missense 0.00000831●●●●●●
254. 17448683 c.2135T>C p.V712A missense 0.00000831●●●●●●
255. 17438493 c.2239A>C p.I747L missense 0.00000831●●●●●●
256. 17449906 c.1970G>A p.R657Q missense 0.00000831●●●●●●
257. 17449927 c.1949G>A p.R650H missense 0.00000831●●●●●●
258. 17496552 c.171G>T p.K57N missense 0.00000831●●●●●●
259. 17448684 c.2134G>T p.V712L missense 0.00000831●●●●●●
260. 17418853 c.3875A>G p.N1292S missense 0.00000831●●●●●●
261. 17496553 c.170A>G p.K57R missense 0.00000831●●●●●●
262. 17438496 c.2236G>A p.E746K missense 0.00000831●●●●●●
263. 17449897 c.1979C>G p.T660S missense 0.00000831●●●●●●
264. 17448684 c.2134G>A p.V712M missense 0.00000831●●●●●●
265. 17482175 c.871C>T p.L291F missense 0.00000831●●●●●●
266. 17419286 c.3812T>G p.L1271R missense 0.00000830●●●●●●
267. 17482160 c.886G>A p.G296R missense 0.00000830●●●●●●
268. 17419320 c.3778C>T p.L1260F missense 0.00000830●●●●●●
269. 17418842 c.3886T>C p.W1296R missense 0.00000830●●●●●●
270. 17428578 c.3019G>C p.A1007P missense 0.00000830●●●●●●
271. 17482163 c.883T>A p.F295I missense 0.00000830●●●●●●
272. 17482156 c.890G>T p.R297M missense 0.00000830●●●●●●
273. 17449928 c.1948C>A p.R650S missense 0.00000830●●●●●●
274. 17428206 c.3292C>T p.R1098C missense 0.00000830●●●●●●
275. 17419286 c.3812T>C p.L1271P missense 0.00000830●●●●●●
276. 17428592 c.3005A>G p.K1002R missense 0.00000830●●●●●●
277. 17419978 c.3661C>T p.R1221W missense 0.00000829●●●●●●
278. 17418831 c.3897G>T p.R1299S missense 0.00000829●●●●●●
279. 17482148 c.898G>A p.V300I missense 0.00000829●●●●●●
280. 17418830 c.3898A>T p.N1300Y missense 0.00000829●●●●●●
281. 17430052 c.2707A>C p.K903Q missense 0.00000828●●●●●●
282. 17428559 c.3038C>T p.S1013L missense 0.00000828●●●●●●
283. 17430053 c.2706G>A p.M902I missense 0.00000828●●●●●●
284. 17418817 c.3911T>C p.M1304T missense 0.00000828●●●●●●
285. 17428562 c.3035T>C p.L1012P missense 0.00000828●●●●●●
286. 17482130 c.916C>T p.R306C missense 0.00000828●●●●●●
287. 17428550 c.3047T>C p.V1016A missense 0.00000828●●●●●●
288. 17464414 c.1483C>T p.R495W missense 0.00000828●●●●●●
289. 17482142 c.904A>T p.S302C missense 0.00000828●●●●●●
290. 17428557 c.3040T>G p.L1014V missense 0.00000828●●●●●●
291. 17415849 c.4509C>G p.I1503M missense 0.00000827●●●●●●
292. 17496533 c.190A>G p.T64A missense 0.00000827●●●●●●
293. 17464396 c.1501G>A p.E501K missense 0.00000827●●●●●●
294. 17482121 c.925G>C p.A309P missense 0.00000827●●●●●●
295. 17415862 c.4496C>G p.T1499S missense 0.00000827●●●●●●
296. 17428544 c.3053C>T p.S1018L missense 0.00000827●●●●●●
297. 17464395 c.1502A>C p.E501A missense 0.00000827●●●●●●
298. 17482120 c.926C>G p.A309G missense 0.00000827●●●●●●
299. 17482118 c.928G>A p.D310N missense 0.00000827●●●●●●
300. 17414636 c.4648G>A p.V1550I missense 0.00000827●●●●●●
301. 17415847 c.4511T>A p.M1504K missense 0.00000827●●●●●●
302. 17482103 c.943G>A p.A315T missense 0.00000827●●●●●●
303. 17414646 c.4638C>A p.D1546E missense 0.00000827●●●●●●
304. 17418773 c.3955A>C p.K1319Q missense 0.00000826●●●●●●
305. 17491760 c.300A>C p.E100D missense 0.00000826●●●●●●
306. 17414623 c.4661G>T p.G1554V missense 0.00000826●●●●●●
307. 17414618 c.4666A>G p.I1556V missense 0.00000826●●●●●●
308. 17428439 c.3158G>A p.S1053N missense 0.00000826●●●●●●
309. 17418799 c.3929C>G p.A1310G missense 0.00000826●●●●●●
310. 17464391 c.1506G>T p.M502I missense 0.00000826●●●●●●
311. 17450199 c.1836G>T p.E612D missense 0.00000826●●●●●●
312. 17428488 c.3109A>G p.T1037A missense 0.00000826●●●●●●
313. 17418785 c.3943C>T p.H1315Y missense 0.00000826●●●●●●
314. 17418477 c.4105G>A p.A1369T missense 0.00000826●●●●●●
315. 17482079 c.967A>C p.I323L missense 0.00000826●●●●●●
316. 17448597 c.2221A>C p.S741R missense 0.00000826●●●●●●
317. 17426117 c.3499C>G p.L1167V missense 0.00000826●●●●●●
318. 17418800 c.3928G>T p.A1310S missense 0.00000826●●●●●●
319. 17464387 c.1510C>T p.R504C missense 0.00000826●●●●●●
320. 17450116 c.1919C>G p.A640G missense 0.00000826●●●●●●
321. 17464381 c.1516A>C p.I506L missense 0.00000826●●●●●●
322. 17418787 c.3941T>G p.I1314S missense 0.00000826●●●●●●
323. 17482090 c.956G>T p.C319F missense 0.00000826●●●●●●
324. 17430036 c.2723A>G p.Q908R missense 0.00000826●●●●●●
325. 17448654 c.2164C>T p.L722F missense 0.00000826●●●●●●
326. 17482072 c.974A>C p.D325A missense 0.00000826●●●●●●
327. 17491754 c.306C>A p.H102Q missense 0.00000826●●●●●●
328. 17450116 c.1919C>A p.A640E missense 0.00000826●●●●●●
329. 17464384 c.1513G>A p.G505S missense 0.00000826●●●●●●
330. 17418791 c.3937C>T p.R1313C missense 0.00000826●●●●●●
331. 17430042 c.2717C>T p.T906I missense 0.00000826●●●●●●
332. 17483370 c.582A>T p.R194S missense 0.00000826●●●●●●
333. 17448632 c.2186A>G p.E729G missense 0.00000825●●●●●●
334. 17450164 c.1871G>A p.C624Y missense 0.00000825●●●●●●
335. 17450123 c.1912T>A p.Y638N missense 0.00000825●●●●●●
336. 17426105 c.3511G>A p.A1171T missense 0.00000825●●●●●●
337. 17426071 c.3545G>T p.R1182L missense 0.00000825●●●●●●
338. 17419914 c.3725C>G p.A1242G missense 0.00000825●●●●●●
339. 17414564 c.4720G>A p.A1574T missense 0.00000825●●●●●●
340. 17464320 c.1577G>T p.R526L missense 0.00000825●●●●●●
341. 17448627 c.2191C>A p.Q731K missense 0.00000825●●●●●●
342. 17427096 c.3344C>A p.T1115K missense 0.00000825●●●●●●
343. 17464309 c.1588A>T p.M530L missense 0.00000825●●●●●●
344. 17491704 c.356C>A p.T119N missense 0.00000825●●●●●●
345. 17482049 c.997G>A p.V333I missense 0.00000825●●●●●●
346. 17464366 c.1531C>G p.L511V missense 0.00000825●●●●●●
347. 17430031 c.2728G>A p.E910K missense 0.00000825●●●●●●
348. 17450168 c.1867C>A p.Q623K missense 0.00000825●●●●●●
349. 17491659 c.401A>G p.K134R missense 0.00000825●●●●●●
350. 17414604 c.4680T>A p.D1560E missense 0.00000825●●●●●●
351. 17419953 c.3686A>C p.Y1229S missense 0.00000825●●●●●●
352. 17436155 c.2294A>T p.K765M missense 0.00000825●●●●●●
353. 17483348 c.604A>T p.R202W missense 0.00000825●●●●●●
354. 17491678 c.382G>A p.E128K missense 0.00000825●●●●●●
355. 17464338 c.1559C>A p.T520K missense 0.00000825●●●●●●
356. 17448642 c.2176G>C p.A726P missense 0.00000825●●●●●●
357. 17448630 c.2188A>G p.M730V missense 0.00000825●●●●●●
358. 17418746 c.3982C>A p.L1328I missense 0.00000825●●●●●●
359. 17427096 c.3344C>T p.T1115M missense 0.00000825●●●●●●
360. 17464333 c.1564G>A p.V522M missense 0.00000825●●●●●●
361. 17491726 c.334A>G p.M112V missense 0.00000825●●●●●●
362. 17450123 c.1912T>C p.Y638H missense 0.00000825●●●●●●
363. 17491660 c.400A>G p.K134E missense 0.00000825●●●●●●
364. 17450176 c.1859G>A p.R620H missense 0.00000825●●●●●●
365. 17483360 c.592T>C p.F198L missense 0.00000825●●●●●●
366. 17448631 c.2187G>T p.E729D missense 0.00000825●●●●●●
367. 17418746 c.3982C>G p.L1328V missense 0.00000825●●●●●●
368. 17491738 c.322A>G p.M108V missense 0.00000825●●●●●●
369. 17448641 c.2177C>T p.A726V missense 0.00000825●●●●●●
370. 17426095 c.3521G>A p.C1174Y missense 0.00000825●●●●●●
371. 17450132 c.1903G>A p.A635T missense 0.00000825●●●●●●
372. 17491668 c.392A>G p.N131S missense 0.00000825●●●●●●
373. 17414552 c.4732C>T p.R1578C missense 0.00000825●●●●●●
374. 17464276 c.1621T>A p.S541T missense 0.00000825●●●●●●
375. 17448622 c.2196G>T p.K732N missense 0.00000825●●●●●●
376. 17464320 c.1577G>A p.R526H missense 0.00000825●●●●●●
377. 17464285 c.1612A>G p.I538V missense 0.00000825●●●●●●
378. 17491681 c.379A>G p.I127V missense 0.00000825●●●●●●
379. 17450189 c.1846A>G p.S616G missense 0.00000825●●●●●●
380. 17432077 c.2680C>A p.P894T missense 0.00000824●●●●●●
381. 17428293 c.3205G>A p.V1069M missense 0.00000824●●●●●●
382. 17483148 c.804G>C p.E268D missense 0.00000824●●●●●●
383. 17418593 c.3989C>T p.A1330V missense 0.00000824●●●●●●
384. 17464849 c.1343G>T p.G448V missense 0.00000824●●●●●●
385. 17434943 c.2473C>T p.R825W missense 0.00000824●●●●●●
386. 17452437 c.1741T>A p.S581T missense 0.00000824●●●●●●
387. 17429961 c.2798G>A p.R933Q missense 0.00000824●●●●●●
388. 17427059 c.3381C>A p.D1127E missense 0.00000824●●●●●●
389. 17483165 c.787T>G p.Y263D missense 0.00000824●●●●●●
390. 17428901 c.2920G>A p.E974K missense 0.00000824●●●●●●
391. 17435017 c.2399T>C p.M800T missense 0.00000824●●●●●●
392. 17470196 c.1199T>A p.M400K missense 0.00000824●●●●●●
393. 17483306 c.646C>T p.R216C missense 0.00000824●●●●●●
394. 17483200 c.752G>A p.G251E missense 0.00000824●●●●●●
395. 17432171 c.2586T>G p.H862Q missense 0.00000824●●●●●●
396. 17428948 c.2873C>T p.A958V missense 0.00000824●●●●●●
397. 17415246 c.4606G>A p.A1536T missense 0.00000824●●●●●●
398. 17452383 c.1795T>G p.S599A missense 0.00000824●●●●●●
399. 17470185 c.1210A>G p.T404A missense 0.00000824●●●●●●
400. 17418531 c.4051G>A p.V1351M missense 0.00000824●●●●●●
401. 17483288 c.664G>A p.V222M missense 0.00000824●●●●●●
402. 17470122 c.1273A>G p.T425A missense 0.00000824●●●●●●
403. 17483222 c.730C>T p.P244S missense 0.00000824●●●●●●
404. 17464775 c.1417G>C p.V473L missense 0.00000824●●●●●●
405. 17432194 c.2563C>A p.P855T missense 0.00000824●●●●●●
406. 17483275 c.677C>G p.S226C missense 0.00000824●●●●●●
407. 17432112 c.2645C>A p.T882K missense 0.00000824●●●●●●
408. 17428301 c.3197T>C p.V1066A missense 0.00000824●●●●●●
409. 17418527 c.4055G>A p.R1352H missense 0.00000824●●●●●●
410. 17432145 c.2612G>A p.G871D missense 0.00000824●●●●●●
411. 17470217 c.1178C>G p.T393S missense 0.00000824●●●●●●
412. 17434988 c.2428G>A p.D810N missense 0.00000824●●●●●●
413. 17429974 c.2785A>T p.T929S missense 0.00000824●●●●●●
414. 17427070 c.3370T>C p.F1124L missense 0.00000824●●●●●●
415. 17436147 c.2302C>T p.P768S missense 0.00000824●●●●●●
416. 17470197 c.1198A>T p.M400L missense 0.00000824●●●●●●
417. 17428939 c.2882C>T p.S961L missense 0.00000824●●●●●●
418. 17435015 c.2401G>T p.V801F missense 0.00000824●●●●●●
419. 17424287 c.3571C>G p.L1191V missense 0.00000824●●●●●●
420. 17464732 c.1460G>T p.S487I missense 0.00000824●●●●●●
421. 17432184 c.2573C>T p.A858V missense 0.00000824●●●●●●
422. 17452470 c.1708G>A p.D570N missense 0.00000824●●●●●●
423. 17418564 c.4018G>A p.D1340N missense 0.00000824●●●●●●
424. 17428963 c.2858A>C p.Q953P missense 0.00000824●●●●●●
425. 17415263 c.4589G>A p.R1530H missense 0.00000824●●●●●●
426. 17452394 c.1784G>A p.S595N missense 0.00000824●●●●●●
427. 17474674 c.1168G>A p.A390T missense 0.00000824●●●●●●
428. 17470193 c.1202A>G p.H401R missense 0.00000824●●●●●●
429. 17483266 c.686C>T p.T229I missense 0.00000824●●●●●●
430. 17436107 c.2342C>T p.A781V missense 0.00000824●●●●●●
431. 17483289 c.663C>A p.F221L missense 0.00000824●●●●●●
432. 17464827 c.1365A>G p.I455M missense 0.00000824●●●●●●
433. 17496502 c.221G>A p.R74Q missense 0.00000824●●●●●●
434. 17464780 c.1412C>T p.A471V missense 0.00000824●●●●●●
435. 17432115 c.2642G>A p.R881K missense 0.00000824●●●●●●
436. 17483187 c.765C>G p.I255M missense 0.00000824●●●●●●
437. 17418527 c.4055G>C p.R1352P missense 0.00000824●●●●●●
438. 17430003 c.2756C>G p.S919C missense 0.00000824●●●●●●
439. 17427090 c.3350T>C p.L1117P missense 0.00000824●●●●●●
440. 17418485 c.4097C>T p.A1366V missense 0.00000824●●●●●●
441. 17496449 c.274G>A p.G92S missense 0.00000824●●●●●●
442. 17474736 c.1106A>G p.Q369R missense 0.00000824●●●●●●
443. 17428939 c.2882C>G p.S961W missense 0.00000824●●●●●●
444. 17470105 c.1290G>T p.W430C missense 0.00000824●●●●●●
445. 17434985 c.2431A>G p.I811V missense 0.00000824●●●●●●
446. 17483134 c.818A>G p.Q273R missense 0.00000824●●●●●●
447. 17483202 c.750C>G p.I250M missense 0.00000824●●●●●●
448. 17464762 c.1430T>C p.V477A missense 0.00000824●●●●●●
449. 17418581 c.4001T>C p.I1334T missense 0.00000824●●●●●●
450. 17435009 c.2407G>A p.E803K missense 0.00000824●●●●●●
451. 17464807 c.1385T>C p.I462T missense 0.00000824●●●●●●
452. 17432073 c.2684A>G p.H895R missense 0.00000824●●●●●●
453. 17452413 c.1765C>T p.P589S missense 0.00000824●●●●●●
454. 17452382 c.1796C>G p.S599C missense 0.00000824●●●●●●
455. 17427058 c.3382T>G p.C1128G missense 0.00000824●●●●●●
456. 17424284 c.3574G>C p.D1192H missense 0.00000824●●●●●●
457. 17470195 c.1200G>A p.M400I missense 0.00000824●●●●●●
458. 17415264 c.4588C>T p.R1530C missense 0.00000824●●●●●●
459. 17464844 c.1348A>G p.I450V missense 0.00000824●●●●●●
460. 17464819 c.1373T>A p.V458D missense 0.00000824●●●●●●
461. 17483189 c.763A>G p.I255V missense 0.00000824●●●●●●
462. 17418506 c.4076C>T p.P1359L missense 0.00000824●●●●●●
463. 17432149 c.2608G>A p.A870T missense 0.00000824●●●●●●
464. 17427093 c.3347C>T p.P1116L missense 0.00000824●●●●●●
465. 17418492 c.4090G>T p.V1364F missense 0.00000824●●●●●●
466. 17496473 c.250G>T p.V84F missense 0.00000824●●●●●●
467. 17483146 c.806C>G p.A269G missense 0.00000824●●●●●●
468. 17428946 c.2875A>C p.M959L missense 0.00000824●●●●●●
469. 17474715 c.1127C>T p.S376F missense 0.00000824●●●●●●
470. 17470133 c.1262T>C p.V421A missense 0.00000824●●●●●●
471. 17470118 c.1277A>G p.N426S missense 0.00000824●●●●●●
472. 17436102 c.2347G>A p.V783M missense 0.00000824●●●●●●
473. 17434986 c.2430C>A p.D810E missense 0.00000824●●●●●●
474. 17424209 c.3649A>G p.R1217G missense 0.00000824●●●●●●
475. 17432193 c.2564C>A p.P855H missense 0.00000824●●●●●●
476. 17483216 c.736G>A p.D246N 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.