ABCC8 variants in ExAC

ABCC8 gene summary
ABCC8 variants in

The table below lists the ABCC8 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. 17448704 c.2117-3C>T splice site 0.43459406●●●●●●
3. 17414570 c.4714G>A p.V1572I missense 0.05620619●●●●●●
4. 17428163 c.3329+6C>T splice site 0.01332907●●●●●●
5. 17470059 c.1332+4delC splice site 0.00098025●●●●●●
6. 17427028 c.3399+13G>A splice site 0.00095546●●●●●●
7. 17414581 c.4703G>A p.R1568Q missense 0.00085800●●●●●●
8. 17464808 c.1384A>G p.I462V missense 0.00084023●●●●●●
9. 17450177 c.1858C>T p.R620C missense 0.00082480●●●●●●
10. 17449950 c.1926C>G p.P642P splice site 0.00081668●●●●●●
11. 17452500 c.1678G>A p.V560M missense 0.00077507●●●●●●
12. 17449918 c.1958G>A p.R653Q missense 0.00070616●●●●●●
13. 17470143 c.1252T>C p.C418R missense 0.00064245●●●●●●
14. 17485077 c.487G>A p.G163S missense 0.00056076●●●●●●
15. 17424308 c.3558-8C>T splice site 0.00049442●●●●●●
16. 17418603 c.3989-10C>T splice site 0.00049432●●●●●●
17. 17474779 c.1063G>A p.A355T missense 0.00046136●●●●●●
18. 17415289 c.4563G>T p.K1521N missense 0.00046129●●●●●●
19. 17448642 c.2176G>A p.A726T missense 0.00042076●●●●●●
20. 17419224 c.3867+7G>A splice site 0.00033810●●●●●●
21. 17428295 c.3203C>T p.T1068M missense 0.00033779●●●●●●
22. 17491717 c.343A>G p.M115V missense 0.00029691●●●●●●
23. 17428424 c.3162+11C>T splice site 0.00025598●●●●●●
24. 17449470 c.2060C>T p.T687M missense 0.00024208●●●●●●
25. 17482222 c.824G>A p.R275Q missense 0.00023574●●●●●●
26. 17416805 c.4325A>T p.E1442V missense 0.00022185●●●●●●
27. 17428933 c.2888A>G p.D963G missense 0.00021415●●●●●●
28. 17485004 c.560T>A p.V187D missense 0.00021233●●●●●●
29. 17485156 c.413-5G>A splice site 0.00018450●●●●●●
30. 17464257 c.1630+10C>T splice site 0.00018143●●●●●●
31. 17418602 c.3989-9G>A splice site 0.00018125●●●●●●
32. 17450161 c.1874C>T p.A625V missense 0.00017317●●●●●●
33. 17418492 c.4090G>A p.V1364I missense 0.00017307●●●●●●
34. 17424204 c.3650+4C>G splice site 0.00016473●●●●●●
35. 17483263 c.689A>G p.Y230C missense 0.00015649●●●●●●
36. 17449426 c.2104C>T p.R702C missense 0.00015277●●●●●●
37. 17482154 c.892C>T p.R298C missense 0.00014104●●●●●●
38. 17418752 c.3976G>A p.E1326K missense 0.00014032●●●●●●
39. 17498262 c.62T>A p.V21D missense 0.00013617●●●●●●
40. 17482192 c.854G>A p.R285Q missense 0.00012517●●●●●●
41. 17424241 c.3617C>T p.T1206I missense 0.00012355●●●●●●
42. 17428668 c.2929G>A p.A977T missense 0.00012266●●●●●●
43. 17426123 c.3493G>A p.V1165M missense 0.00011584●●●●●●
44. 17450116 c.1919C>T p.A640V missense 0.00011558●●●●●●
45. 17424204 c.3650+4C>T splice site 0.00011531●●●●●●
46. 17417475 c.4122C>T p.I1374I splice site 0.00011348●●●●●●
47. 17434269 c.2500C>T p.R834C missense 0.00010899●●●●●●
48. 17414594 c.4690A>G p.K1564E missense 0.00010727●●●●●●
49. 17434982 c.2434G>A p.D812N missense 0.00010707●●●●●●
50. 17464335 c.1562G>A p.R521Q missense 0.00009898●●●●●●
51. 17453779 c.1643C>T p.T548M missense 0.00009258●●●●●●
52. 17482193 c.853C>T p.R285W missense 0.00009183●●●●●●
53. 17450223 c.1818-6G>A splice site 0.00009129●●●●●●
54. 17428485 c.3112G>A p.D1038N missense 0.00009088●●●●●●
55. 17464342 c.1555C>T p.R519C missense 0.00009074●●●●●●
56. 17448609 c.2209G>A p.V737I missense 0.00009074●●●●●●
57. 17435031 c.2391-6C>T splice site 0.00009061●●●●●●
58. 17417419 c.4178G>A p.R1393H missense 0.00008732●●●●●●
59. 17485150 c.414C>T p.A138A splice site 0.00008706●●●●●●
60. 17491762 c.298G>A p.E100K missense 0.00008260●●●●●●
61. 17491685 c.375C>G p.H125Q missense 0.00008245●●●●●●
62. 17436878 c.2264G>A p.R755Q missense 0.00007785●●●●●●
63. 17428162 c.3329+7G>A splice site 0.00007661●●●●●●
64. 17434263 c.2506C>T p.R836X nonsense 0.00007527●●●●●●
65. 17418866 c.3868-6C>A splice site 0.00007493●●●●●●
66. 17415310 c.4546-4G>A splice site 0.00007414●●●●●●
67. 17436872 c.2270C>G p.T757R missense 0.00006700●●●●●●
68. 17483379 c.580-7C>A splice site 0.00006611●●●●●●
69. 17450109 c.1923+3G>A splice site 0.00006608●●●●●●
70. 17419957 c.3682G>A p.E1228K missense 0.00006602●●●●●●
71. 17432122 c.2635G>A p.D879N missense 0.00006589●●●●●●
72. 17436059 c.2390G>A p.R797Q missense 0.00006589●●●●●●
73. 17432127 c.2630G>A p.R877Q missense 0.00006589●●●●●●
74. 17424218 c.3640C>T p.R1214W missense 0.00006589●●●●●●
75. 17416788 c.4342A>G p.S1448G missense 0.00006390●●●●●●
76. 17434210 c.2556+3G>A splice site 0.00005858●●●●●●
77. 17449907 c.1969C>T p.R657W missense 0.00005814●●●●●●
78. 17435030 c.2391-5G>A splice site 0.00005766●●●●●●
79. 17428952 c.2869C>G p.R957G missense 0.00005766●●●●●●
80. 17432128 c.2629C>T p.R877W missense 0.00005765●●●●●●
81. 17436889 c.2256-3C>T splice site 0.00005529●●●●●●
82. 17491753 c.307C>T p.H103Y missense 0.00004954●●●●●●
83. 17464266 c.1630+1G>T essential splice site 0.00004947●●●●●●
84. 17428260 c.3238G>A p.V1080I missense 0.00004944●●●●●●
85. 17464823 c.1369G>A p.G457R missense 0.00004943●●●●●●
86. 17436060 c.2389C>T p.R797W missense 0.00004942●●●●●●
87. 17417158 c.4306C>T p.R1436X nonsense 0.00004703●●●●●●
88. 17453751 c.1671A>G p.I557M missense 0.00004628●●●●●●
89. 17417179 c.4285G>A p.V1429I missense 0.00004527●●●●●●
90. 17417182 c.4282C>T p.P1428S missense 0.00004499●●●●●●
91. 17417244 c.4220T>C p.I1407T missense 0.00004413●●●●●●
92. 17417217 c.4247C>T p.T1416I missense 0.00004319●●●●●●
93. 17485011 c.553G>A p.V185M missense 0.00004278●●●●●●
94. 17449956 c.1924-4C>T splice site 0.00004173●●●●●●
95. 17415813 c.4545G>A p.T1515T splice site 0.00004166●●●●●●
96. 17450224 c.1818-7C>T splice site 0.00004153●●●●●●
97. 17464386 c.1511G>A p.R504H missense 0.00004131●●●●●●
98. 17464338 c.1559C>T p.T520M missense 0.00004124●●●●●●
99. 17483158 c.794G>A p.R265Q missense 0.00004119●●●●●●
100. 17428952 c.2869C>T p.R957C missense 0.00004118●●●●●●
101. 17434994 c.2422C>A p.Q808K missense 0.00004118●●●●●●
102. 17416720 c.4410C>T p.L1470L splice site 0.00003806●●●●●●
103. 17436844 c.2291+7C>T splice site 0.00003701●●●●●●
104. 17426203 c.3413C>T p.T1138M missense 0.00003413●●●●●●
105. 17419239 c.3859G>A p.A1287T missense 0.00003409●●●●●●
106. 17482231 c.823-8C>T splice site 0.00003383●●●●●●
107. 17428622 c.2975G>A p.R992H missense 0.00003339●●●●●●
108. 17419323 c.3775G>A p.V1259M missense 0.00003324●●●●●●
109. 17428596 c.3001G>A p.A1001T missense 0.00003324●●●●●●
110. 17418851 c.3877T>G p.Y1293D missense 0.00003323●●●●●●
111. 17474818 c.1024G>A p.G342R missense 0.00003310●●●●●●
112. 17491772 c.291-3C>T splice site 0.00003307●●●●●●
113. 17464326 c.1571C>T p.T524M missense 0.00003299●●●●●●
114. 17496515 c.208G>A p.G70R missense 0.00003299●●●●●●
115. 17464336 c.1561C>T p.R521W missense 0.00003299●●●●●●
116. 17464259 c.1630+8C>T splice site 0.00003298●●●●●●
117. 17491657 c.403C>G p.L135V missense 0.00003298●●●●●●
118. 17434224 c.2545G>A p.V849I missense 0.00003297●●●●●●
119. 17464735 c.1457G>A p.R486Q missense 0.00003296●●●●●●
120. 17428323 c.3175G>A p.D1059N missense 0.00003296●●●●●●
121. 17474719 c.1123G>A p.A375T missense 0.00003295●●●●●●
122. 17424245 c.3613G>A p.E1205K missense 0.00003295●●●●●●
123. 17452353 c.1817+8G>A splice site 0.00003295●●●●●●
124. 17470206 c.1189A>C p.N397H missense 0.00003295●●●●●●
125. 17418574 c.4008G>C p.K1336N missense 0.00003295●●●●●●
126. 17485159 c.413-8C>G splice site 0.00003161●●●●●●
127. 17485157 c.413-6C>T splice site 0.00003121●●●●●●
128. 17428680 c.2921-4G>T splice site 0.00002947●●●●●●
129. 17498320 c.4C>T p.P2S missense 0.00002793●●●●●●
130. 17417462 c.4135C>T p.R1379C missense 0.00002663●●●●●●
131. 17417456 c.4141G>A p.G1381S missense 0.00002648●●●●●●
132. 17417437 c.4160_4162delTCT inframe 0.00002625●●●●●●
133. 17417450 c.4147G>A p.G1383R missense 0.00002617●●●●●●
134. 17449425 c.2105G>A p.R702H missense 0.00002546●●●●●●
135. 17428637 c.2960C>T p.S987F missense 0.00002532●●●●●●
136. 17428190 c.3308G>A p.R1103Q missense 0.00002531●●●●●●
137. 17428617 c.2980G>A p.E994K missense 0.00002501●●●●●●
138. 17449952 c.1924C>T p.P642S missense 0.00002501●●●●●●
139. 17482185 c.861C>G p.I287M missense 0.00002500●●●●●●
140. 17449933 c.1943G>A p.R648H missense 0.00002494●●●●●●
141. 17449919 c.1957C>T p.R653W missense 0.00002492●●●●●●
142. 17415835 c.4523C>T p.T1508M missense 0.00002488●●●●●●
143. 17450217 c.1818C>T p.S606S splice site 0.00002486●●●●●●
144. 17418476 c.4106C>T p.A1369V missense 0.00002480●●●●●●
145. 17415881 c.4477C>T p.R1493W missense 0.00002479●●●●●●
146. 17418790 c.3938G>A p.R1313H missense 0.00002478●●●●●●
147. 17450153 c.1882G>A p.E628K missense 0.00002474●●●●●●
148. 17414551 c.4733G>A p.R1578H missense 0.00002474●●●●●●
149. 17450149 c.1886C>T p.P629L missense 0.00002474●●●●●●
150. 17430006 c.2753G>A p.R918K missense 0.00002473●●●●●●
151. 17496473 c.250G>A p.V84I missense 0.00002473●●●●●●
152. 17436144 c.2305G>A p.V769M missense 0.00002473●●●●●●
153. 17429962 c.2797C>G p.R933G missense 0.00002473●●●●●●
154. 17429986 c.2773G>C p.E925Q missense 0.00002473●●●●●●
155. 17483138 c.814G>A p.A272T missense 0.00002472●●●●●●
156. 17483332 c.620C>T p.P207L missense 0.00002472●●●●●●
157. 17452355 c.1817+6G>A splice site 0.00002471●●●●●●
158. 17424280 c.3578A>T p.D1193V missense 0.00002471●●●●●●
159. 17474664 c.1176+2T>C essential splice site 0.00002471●●●●●●
160. 17474775 c.1067A>G p.Y356C missense 0.00002471●●●●●●
161. 17428314 c.3184G>A p.V1062I missense 0.00002471●●●●●●
162. 17470130 c.1265C>T p.A422V missense 0.00002471●●●●●●
163. 17470125 c.1270G>A p.D424N missense 0.00002471●●●●●●
164. 17483239 c.713A>G p.K238R missense 0.00002471●●●●●●
165. 17428970 c.2851C>G p.P951A missense 0.00002471●●●●●●
166. 17483305 c.647G>A p.R216H missense 0.00002471●●●●●●
167. 17436067 c.2382C>G p.N794K missense 0.00002471●●●●●●
168. 17483294 c.658C>G p.P220A missense 0.00002471●●●●●●
169. 17483243 c.709A>G p.I237V missense 0.00002471●●●●●●
170. 17483209 c.743G>A p.R248Q missense 0.00002471●●●●●●
171. 17424217 c.3641G>A p.R1214Q missense 0.00002471●●●●●●
172. 17452455 c.1723G>A p.V575M missense 0.00002471●●●●●●
173. 17436869 c.2273C>T p.A758V missense 0.00002251●●●●●●
174. 17436869 c.2273C>G p.A758G missense 0.00002251●●●●●●
175. 17436876 c.2266G>A p.E756K missense 0.00002224●●●●●●
176. 17436878 c.2264G>T p.R755L missense 0.00002224●●●●●●
177. 17436879 c.2263C>T p.R755W missense 0.00002223●●●●●●
178. 17434268 c.2501G>A p.R834H missense 0.00002181●●●●●●
179. 17434230 c.2539G>A p.A847T missense 0.00002157●●●●●●
180. 17434230 c.2539G>T p.A847S missense 0.00002157●●●●●●
181. 17485109 c.455T>C p.I152T missense 0.00002077●●●●●●
182. 17428685 c.2921-9G>A splice site 0.00002009●●●●●●
183. 17498233 c.91C>T p.L31F missense 0.00001887●●●●●●
184. 17485083 c.481G>T p.A161S missense 0.00001871●●●●●●
185. 17428165 c.3329+4C>G splice site 0.00001854●●●●●●
186. 17449494 c.2041-5T>C splice site 0.00001818●●●●●●
187. 17485065 c.499C>G p.L167V missense 0.00001739●●●●●●
188. 17426156 c.3460G>A p.A1154T missense 0.00001729●●●●●●
189. 17428640 c.2957C>T p.S986L missense 0.00001695●●●●●●
190. 17482228 c.823-5G>A splice site 0.00001689●●●●●●
191. 17498293 c.31C>T p.H11Y missense 0.00001685●●●●●●
192. 17482223 c.823C>T p.R275W missense 0.00001685●●●●●●
193. 17448698 c.2120A>G p.Q707R missense 0.00001674●●●●●●
194. 17496569 c.154G>A p.G52R missense 0.00001674●●●●●●
195. 17428622 c.2975G>C p.R992P missense 0.00001670●●●●●●
196. 17428620 c.2977G>A p.A993T missense 0.00001669●●●●●●
197. 17428614 c.2983A>G p.I995V missense 0.00001666●●●●●●
198. 17449859 c.2017G>A p.D673N missense 0.00001666●●●●●●
199. 17418861 c.3868-1G>A essential splice site 0.00001665●●●●●●
200. 17428605 c.2992C>T p.R998X nonsense 0.00001664●●●●●●
201. 17449895 c.1981G>A p.G661S missense 0.00001664●●●●●●
202. 17428604 c.2993G>A p.R998Q missense 0.00001663●●●●●●
203. 17449898 c.1978A>G p.T660A missense 0.00001662●●●●●●
204. 17448680 c.2138G>T p.G713V missense 0.00001660●●●●●●
205. 17428575 c.3022G>A p.G1008S missense 0.00001659●●●●●●
206. 17482153 c.893G>A p.R298H missense 0.00001659●●●●●●
207. 17450216 c.1819G>A p.V607M missense 0.00001657●●●●●●
208. 17419977 c.3662G>A p.R1221Q missense 0.00001657●●●●●●
209. 17428563 c.3034C>A p.L1012M missense 0.00001657●●●●●●
210. 17414656 c.4628T>C p.L1543P missense 0.00001656●●●●●●
211. 17448666 c.2152G>A p.G718S missense 0.00001655●●●●●●
212. 17415847 c.4511T>C p.M1504T missense 0.00001655●●●●●●
213. 17428524 c.3073G>A p.V1025I missense 0.00001653●●●●●●
214. 17415880 c.4478G>T p.R1493L missense 0.00001653●●●●●●
215. 17415872 c.4486G>A p.V1496M missense 0.00001653●●●●●●
216. 17448592 c.2222+4dupA splice site 0.00001653●●●●●●
217. 17482073 c.973G>A p.D325N missense 0.00001652●●●●●●
218. 17414627 c.4657C>T p.R1553W missense 0.00001652●●●●●●
219. 17450201 c.1834G>A p.E612K missense 0.00001652●●●●●●
220. 17428463 c.3134C>T p.P1045L missense 0.00001652●●●●●●
221. 17448599 c.2219G>A p.S740N missense 0.00001652●●●●●●
222. 17428479 c.3118G>A p.A1040T missense 0.00001652●●●●●●
223. 17483375 c.580-3C>T splice site 0.00001652●●●●●●
224. 17491747 c.313C>T p.H105Y missense 0.00001651●●●●●●
225. 17482050 c.996C>A p.D332E missense 0.00001651●●●●●●
226. 17482052 c.994G>A p.D332N missense 0.00001651●●●●●●
227. 17414606 c.4678G>A p.D1560N missense 0.00001651●●●●●●
228. 17448612 c.2206G>T p.A736S missense 0.00001650●●●●●●
229. 17426099 c.3517G>A p.V1173M missense 0.00001650●●●●●●
230. 17491729 c.331G>A p.G111R missense 0.00001650●●●●●●
231. 17418738 c.3988+2T>C essential splice site 0.00001650●●●●●●
232. 17464360 c.1537G>A p.A513T missense 0.00001650●●●●●●
233. 17429935 c.2820+4G>A splice site 0.00001650●●●●●●
234. 17496445 c.278T>C p.I93T missense 0.00001649●●●●●●
235. 17426089 c.3527T>A p.F1176Y missense 0.00001649●●●●●●
236. 17429956 c.2803G>A p.D935N missense 0.00001649●●●●●●
237. 17496503 c.220C>T p.R74W missense 0.00001649●●●●●●
238. 17483347 c.605G>A p.R202K missense 0.00001649●●●●●●
239. 17464855 c.1337T>C p.I446T missense 0.00001648●●●●●●
240. 17415245 c.4607C>T p.A1536V missense 0.00001648●●●●●●
241. 17428340 c.3163-5T>A splice site 0.00001648●●●●●●
242. 17485058 c.506T>A p.F169Y missense 0.00001648●●●●●●
243. 17483324 c.628C>G p.L210V missense 0.00001648●●●●●●
244. 17464796 c.1396G>A p.V466I missense 0.00001648●●●●●●
245. 17474773 c.1069G>A p.V357I missense 0.00001648●●●●●●
246. 17464849 c.1343G>C p.G448A missense 0.00001648●●●●●●
247. 17464732 c.1460G>A p.S487N missense 0.00001648●●●●●●
248. 17464763 c.1429G>A p.V477M missense 0.00001648●●●●●●
249. 17428274 c.3224T>C p.I1075T missense 0.00001648●●●●●●
250. 17428310 c.3188A>G p.Y1063C missense 0.00001648●●●●●●
251. 17452463 c.1715C>T p.S572L missense 0.00001648●●●●●●
252. 17452386 c.1792C>T p.R598X nonsense 0.00001648●●●●●●
253. 17418562 c.4020C>G p.D1340E missense 0.00001648●●●●●●
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512. 17483165 c.787T>G p.Y263D missense 0.00000824●●●●●●
513. 17434939 c.2475+2T>A essential splice site 0.00000824●●●●●●
514. 17483306 c.646C>T p.R216C missense 0.00000824●●●●●●
515. 17483134 c.818A>G p.Q273R missense 0.00000824●●●●●●
516. 17483275 c.677C>G p.S226C missense 0.00000824●●●●●●
517. 17464827 c.1365A>G p.I455M missense 0.00000824●●●●●●
518. 17483200 c.752G>A p.G251E missense 0.00000824●●●●●●
519. 17464849 c.1343G>T p.G448V missense 0.00000824●●●●●●
520. 17432193 c.2564C>A p.P855H missense 0.00000824●●●●●●
521. 17432171 c.2586T>G p.H862Q missense 0.00000824●●●●●●
522. 17418564 c.4018G>A p.D1340N missense 0.00000824●●●●●●
523. 17418527 c.4055G>A p.R1352H missense 0.00000824●●●●●●
524. 17432077 c.2680C>A p.P894T missense 0.00000824●●●●●●
525. 17415263 c.4589G>A p.R1530H missense 0.00000824●●●●●●
526. 17470220 c.1177-2A>G essential splice site 0.00000824●●●●●●
527. 17470122 c.1273A>G p.T425A missense 0.00000824●●●●●●
528. 17418531 c.4051G>A p.V1351M missense 0.00000824●●●●●●
529. 17483222 c.730C>T p.P244S missense 0.00000824●●●●●●
530. 17464780 c.1412C>T p.A471V missense 0.00000824●●●●●●
531. 17483288 c.664G>A p.V222M missense 0.00000824●●●●●●
532. 17435017 c.2399T>C p.M800T missense 0.00000824●●●●●●
533. 17452470 c.1708G>A p.D570N missense 0.00000824●●●●●●
534. 17432145 c.2612G>A p.G871D missense 0.00000824●●●●●●
535. 17428301 c.3197T>C p.V1066A missense 0.00000824●●●●●●
536. 17427070 c.3370T>C p.F1124L missense 0.00000824●●●●●●
537. 17418485 c.4097C>T p.A1366V missense 0.00000824●●●●●●
538. 17452413 c.1765C>T p.P589S missense 0.00000824●●●●●●
539. 17470197 c.1198A>T p.M400L missense 0.00000824●●●●●●
540. 17470193 c.1202A>G p.H401R missense 0.00000824●●●●●●
541. 17428948 c.2873C>T p.A958V missense 0.00000824●●●●●●
542. 17464718 c.1467+7G>T splice site 0.00000824●●●●●●
543. 17428939 c.2882C>T p.S961L missense 0.00000824●●●●●●
544. 17464844 c.1348A>G p.I450V missense 0.00000824●●●●●●
545. 17435015 c.2401G>T p.V801F missense 0.00000824●●●●●●
546. 17434940 c.2475+1G>A essential splice site 0.00000824●●●●●●
547. 17470105 c.1290G>A p.W430X nonsense 0.00000824●●●●●●
548. 17436053 c.2390+6A>C splice site 0.00000824●●●●●●
549. 17432184 c.2573C>T p.A858V missense 0.00000824●●●●●●
550. 17464762 c.1430T>C p.V477A missense 0.00000824●●●●●●
551. 17483187 c.765C>G p.I255M missense 0.00000824●●●●●●
552. 17432194 c.2563C>A p.P855T missense 0.00000824●●●●●●
553. 17418527 c.4055G>C p.R1352P missense 0.00000824●●●●●●
554. 17432112 c.2645C>A p.T882K missense 0.00000824●●●●●●
555. 17474736 c.1106A>G p.Q369R missense 0.00000824●●●●●●
556. 17452382 c.1796C>G p.S599C missense 0.00000824●●●●●●
557. 17429974 c.2785A>T p.T929S missense 0.00000824●●●●●●
558. 17428963 c.2858A>C p.Q953P missense 0.00000824●●●●●●
559. 17483123 c.822+7G>A splice site 0.00000824●●●●●●
560. 17418599 c.3989-6C>A splice site 0.00000824●●●●●●
561. 17435009 c.2407G>A p.E803K missense 0.00000824●●●●●●
562. 17436107 c.2342C>T p.A781V missense 0.00000824●●●●●●
563. 17432140 c.2617dupC p.Leu873ProfsTer2 frameshift 0.00000824●●●●●●
564. 17483289 c.663C>A p.F221L missense 0.00000824●●●●●●
565. 17415264 c.4588C>T p.R1530C missense 0.00000824●●●●●●
566. 17464819 c.1373T>A p.V458D missense 0.00000824●●●●●●
567. 17483266 c.686C>T p.T229I missense 0.00000824●●●●●●
568. 17496502 c.221G>A p.R74Q missense 0.00000824●●●●●●
569. 17452437 c.1741T>A p.S581T missense 0.00000824●●●●●●
570. 17418581 c.4001T>C p.I1334T missense 0.00000824●●●●●●
571. 17496435 c.288T>C splice site 0.00000824●●●●●●
572. 17496449 c.274G>A p.G92S missense 0.00000824●●●●●●
573. 17427090 c.3350T>C p.L1117P missense 0.00000824●●●●●●
574. 17418492 c.4090G>T p.V1364F missense 0.00000824●●●●●●
575. 17470063 c.1332G>A splice site 0.00000824●●●●●●
576. 17434943 c.2473C>T p.R825W missense 0.00000824●●●●●●
577. 17470105 c.1290G>T p.W430C missense 0.00000824●●●●●●
578. 17483146 c.806C>G p.A269G missense 0.00000824●●●●●●
579. 17424284 c.3574G>C p.D1192H missense 0.00000824●●●●●●
580. 17452359 c.1817+2T>C essential splice site 0.00000824●●●●●●
581. 17424209 c.3649A>G p.R1217G missense 0.00000824●●●●●●
582. 17434936 c.2475+5G>T splice site 0.00000824●●●●●●
583. 17483202 c.750C>G p.I250M missense 0.00000824●●●●●●
584. 17428341 c.3163-6G>A splice site 0.00000824●●●●●●
585. 17432073 c.2684A>G p.H895R missense 0.00000824●●●●●●
586. 17424287 c.3571C>G p.L1191V missense 0.00000824●●●●●●
587. 17418506 c.4076C>T p.P1359L missense 0.00000824●●●●●●
588. 17432115 c.2642G>A p.R881K missense 0.00000824●●●●●●
589. 17452383 c.1795T>G p.S599A missense 0.00000824●●●●●●
590. 17430003 c.2756C>G p.S919C missense 0.00000824●●●●●●
591. 17427058 c.3382T>G p.C1128G missense 0.00000824●●●●●●
592. 17470133 c.1262T>C p.V421A missense 0.00000824●●●●●●
593. 17428939 c.2882C>G p.S961W missense 0.00000824●●●●●●
594. 17452354 c.1817+7G>A splice site 0.00000824●●●●●●
595. 17470195 c.1200G>A p.M400I missense 0.00000824●●●●●●
596. 17474674 c.1168G>A p.A390T missense 0.00000824●●●●●●
597. 17470217 c.1178C>G p.T393S missense 0.00000824●●●●●●
598. 17434985 c.2431A>G p.I811V missense 0.00000824●●●●●●
599. 17483189 c.763A>G p.I255V missense 0.00000824●●●●●●
600. 17464807 c.1385T>C p.I462T missense 0.00000824●●●●●●
601. 17483148 c.804G>C p.E268D missense 0.00000824●●●●●●
602. 17432149 c.2608G>A p.A870T missense 0.00000824●●●●●●
603. 17418593 c.3989C>T p.A1330V missense 0.00000824●●●●●●
604. 17496473 c.250G>T p.V84F missense 0.00000824●●●●●●
605. 17474663 c.1176+3A>G splice site 0.00000824●●●●●●
606. 17415246 c.4606G>A p.A1536T missense 0.00000824●●●●●●
607. 17418595 c.3989-2A>G essential splice site 0.00000824●●●●●●
608. 17474715 c.1127C>T p.S376F missense 0.00000824●●●●●●
609. 17470118 c.1277A>G p.N426S missense 0.00000824●●●●●●
610. 17436102 c.2347G>A p.V783M missense 0.00000824●●●●●●
611. 17464775 c.1417G>C p.V473L missense 0.00000824●●●●●●
612. 17464732 c.1460G>T p.S487I missense 0.00000824●●●●●●
613. 17428336 c.3163-1G>A essential splice site 0.00000824●●●●●●
614. 17435030 c.2391-5G>T splice site 0.00000824●●●●●●
615. 17483216 c.736G>A p.D246N missense 0.00000824●●●●●●
616. 17428293 c.3205G>A p.V1069M missense 0.00000824●●●●●●
617. 17436147 c.2302C>T p.P768S missense 0.00000824●●●●●●
618. 17428339 c.3163-4G>A splice site 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.