ABCA1 variants in ExAC

ABCA1 gene summary
ABCA1 variants in

The table below lists the ABCA1 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. 107562804 c.4760A>G p.K1587R missense 0.69363105●●●●●●
2. 107620867 c.656G>A p.R219K missense 0.32993573●●●●●●
3. 107556794 c.5383-3[4]T splice site 0.21779554●●●●●●
4. 107586753 c.2649A>G p.I883M missense 0.21329640●●●●●●
5. 107556794 c.5383-3[3]T splice site 0.15330749●●●●●●
6. 107556794 c.5383-3delT splice site 0.13657224●●●●●●
7. 107556794 c.5383-3dupT splice site 0.10729546●●●●●●
8. 107588033 c.2473G>A p.V825I missense 0.08045646●●●●●●
9. 107556794 c.5383-3[5]T splice site 0.07422060●●●●●●
10. 107589255 c.2311G>A p.V771M missense 0.05118948●●●●●●
11. 107579632 c.3516G>C p.E1172D missense 0.03819788●●●●●●
12. 107556794 c.5383-3[6]T splice site 0.01463839●●●●●●
13. 107620835 c.688C>T p.R230C missense 0.00888710●●●●●●
14. 107589238 c.2328G>C p.K776N missense 0.00359683●●●●●●
15. 107599376 c.1196T>C p.V399A missense 0.00351973●●●●●●
16. 107554263 c.5774G>A p.R1925Q missense 0.00266995●●●●●●
17. 107582360 c.2961-10C>T splice site 0.00232535●●●●●●
18. 107591399 c.1913G>A p.R638Q missense 0.00206390●●●●●●
19. 107546653 c.6729C>A p.D2243E missense 0.00178795●●●●●●
20. 107589246 c.2320A>C p.T774P missense 0.00165762●●●●●●
21. 107599855 c.1055-7T>C splice site 0.00153507●●●●●●
22. 107586800 c.2602G>A p.E868K missense 0.00143344●●●●●●
23. 107579633 c.3515A>G p.E1172G missense 0.00133478●●●●●●
24. 107564328 c.4698+7T>C splice site 0.00129438●●●●●●
25. 107578620 c.3542C>T p.S1181F missense 0.00128619●●●●●●
26. 107620889 c.634T>A p.S212T missense 0.00128490●●●●●●
27. 107646756 c.254C>T p.P85L missense 0.00126048●●●●●●
28. 107620797 c.720+6T>C splice site 0.00116965●●●●●●
29. 107602586 c.1028C>T p.A343V missense 0.00083196●●●●●●
30. 107560803 c.5020G>A p.V1674I missense 0.00069206●●●●●●
31. 107591223 c.2089G>A p.A697T missense 0.00065240●●●●●●
32. 107548675 c.6309-4G>A splice site 0.00058525●●●●●●
33. 107584945 c.2660G>T p.C887F missense 0.00058503●●●●●●
34. 107555077 c.5747A>C p.E1916A missense 0.00056023●●●●●●
35. 107594878 c.1486C>T p.R496W missense 0.00051894●●●●●●
36. 107586862 c.2543-3C>T splice site 0.00044063●●●●●●
37. 107582258 c.3053A>G p.D1018G missense 0.00043690●●●●●●
38. 107578618 c.3544G>A p.A1182T missense 0.00042870●●●●●●
39. 107589255 c.2311G>C p.V771L missense 0.00042864●●●●●●
40. 107555191 c.5637-4delC splice site 0.00041234●●●●●●
41. 107595026 c.1338C>G p.D446E missense 0.00038715●●●●●●
42. 107599385 c.1195-8G>A splice site 0.00038114●●●●●●
43. 107560784 c.5039G>A p.R1680Q missense 0.00037069●●●●●●
44. 107550194 c.6204+7A>G splice site 0.00036247●●●●●●
45. 107571799 c.4222C>T p.L1408F missense 0.00034653●●●●●●
46. 107576732 c.3763A>C p.S1255R missense 0.00033789●●●●●●
47. 107607860 c.721-10delC splice site 0.00030223●●●●●●
48. 107556776 c.5398A>C p.N1800H missense 0.00027365●●●●●●
49. 107558696 c.5131G>A p.V1711I missense 0.00023989●●●●●●
50. 107571771 c.4250G>A p.R1417H missense 0.00023932●●●●●●
51. 107593984 c.1634G>A p.S545N missense 0.00023889●●●●●●
52. 107571826 c.4195A>T p.T1399S missense 0.00022319●●●●●●
53. 107574883 c.4022G>C p.R1341T missense 0.00020594●●●●●●
54. 107581120 c.3286G>A p.V1096I missense 0.00017597●●●●●●
55. 107547734 c.6588G>C p.Q2196H missense 0.00016490●●●●●●
56. 107584879 c.2726G>A p.R909Q missense 0.00016473●●●●●●
57. 107546652 c.6730G>A p.V2244I missense 0.00014830●●●●●●
58. 107607829 c.742C>G p.P248A missense 0.00014320●●●●●●
59. 107593333 c.1765G>A p.V589I missense 0.00014005●●●●●●
60. 107591292 c.2020A>C p.M674L missense 0.00014004●●●●●●
61. 107620910 c.613C>A p.Q205K missense 0.00014002●●●●●●
62. 107554237 c.5800G>A p.V1934M missense 0.00013924●●●●●●
63. 107582275 c.3036G>A p.M1012I missense 0.00013187●●●●●●
64. 107588062 c.2444A>G p.E815G missense 0.00013178●●●●●●
65. 107589265 c.2301G>T p.W767C missense 0.00012359●●●●●●
66. 107556682 c.5492C>T p.A1831V missense 0.00012356●●●●●●
67. 107566902 c.4559+5C>A splice site 0.00012355●●●●●●
68. 107591423 c.1893-4C>G splice site 0.00011702●●●●●●
69. 107550322 c.6083C>T p.A2028V missense 0.00011532●●●●●●
70. 107556792 c.5383-1_5383-0insTTG essential splice site 0.00011505●●●●●●
71. 107556792 c.5383-1_5383-0insTT essential splice site 0.00011505●●●●●●
72. 107556792 c.5383-1_5383-0insTTT essential splice site 0.00011505●●●●●●
73. 107556792 c.5383-1G>T essential splice site 0.00011505●●●●●●
74. 107568706 c.4280C>T p.T1427M missense 0.00010781●●●●●●
75. 107593382 c.1716G>A p.G572G splice site 0.00009934●●●●●●
76. 107599371 c.1201A>C p.K401Q missense 0.00009905●●●●●●
77. 107558471 c.5245A>G p.I1749V missense 0.00009891●●●●●●
78. 107574868 c.4037G>A p.G1346E missense 0.00009887●●●●●●
79. 107579678 c.3470G>A p.S1157N missense 0.00009072●●●●●●
80. 107578608 c.3554A>G p.N1185S missense 0.00009065●●●●●●
81. 107594974 c.1390G>A p.V464M missense 0.00009060●●●●●●
82. 107547723 c.6599G>A p.R2200Q missense 0.00008247●●●●●●
83. 107593982 c.1636A>G p.I546V missense 0.00008238●●●●●●
84. 107578578 c.3584G>A p.R1195Q missense 0.00008237●●●●●●
85. 107620814 c.709A>G p.K237E missense 0.00008236●●●●●●
86. 107607822 c.749C>T p.P250L missense 0.00007530●●●●●●
87. 107547777 c.6545C>T p.S2182F missense 0.00007419●●●●●●
88. 107599296 c.1276T>C p.F426L missense 0.00007416●●●●●●
89. 107579624 c.3524C>T p.T1175M missense 0.00007416●●●●●●
90. 107573077 c.4175+4T>C splice site 0.00007413●●●●●●
91. 107546681 c.6701C>T p.S2234L missense 0.00006593●●●●●●
92. 107558416 c.5300A>G p.Y1767C missense 0.00006590●●●●●●
93. 107554276 c.5761T>C p.Y1921H missense 0.00006357●●●●●●
94. 107602728 c.886T>A p.S296T missense 0.00005772●●●●●●
95. 107624072 c.431T>C p.L144P missense 0.00005771●●●●●●
96. 107568586 c.4400G>A p.S1467N missense 0.00005769●●●●●●
97. 107599263 c.1309C>T p.R437W missense 0.00005768●●●●●●
98. 107620972 c.551T>C p.L184S missense 0.00005768●●●●●●
99. 107593329 c.1769G>C p.W590S missense 0.00005767●●●●●●
100. 107578515 c.3647G>T p.G1216V missense 0.00005766●●●●●●
101. 107562151 c.4892C>T p.A1631V missense 0.00005766●●●●●●
102. 107556792 c.5383-1_5383-0insTTTT essential splice site 0.00005752●●●●●●
103. 107593939 c.1679T>C p.I560T missense 0.00004953●●●●●●
104. 107550823 c.5953C>T p.H1985Y missense 0.00004953●●●●●●
105. 107576482 c.3818G>A p.R1273Q missense 0.00004951●●●●●●
106. 107555572 c.5516G>A p.R1839H missense 0.00004947●●●●●●
107. 107587972 c.2534T>C p.V845A missense 0.00004943●●●●●●
108. 107581987 c.3121C>G p.L1041V missense 0.00004943●●●●●●
109. 107589378 c.2188A>G p.I730V missense 0.00004943●●●●●●
110. 107591316 c.1996C>T p.R666W missense 0.00004943●●●●●●
111. 107595038 c.1326C>G p.S442R missense 0.00004942●●●●●●
112. 107588047 c.2459A>G p.N820S missense 0.00004942●●●●●●
113. 107602806 c.814-6C>T splice site 0.00004547●●●●●●
114. 107581162 c.3244C>T p.R1082C missense 0.00004218●●●●●●
115. 107591411 c.1901G>A p.R634Q missense 0.00004142●●●●●●
116. 107547873 c.6449C>T p.P2150L missense 0.00004141●●●●●●
117. 107568519 c.4464+3G>C splice site 0.00004138●●●●●●
118. 107591406 c.1906A>G p.M636V missense 0.00004134●●●●●●
119. 107651461 c.82G>C p.E28Q missense 0.00004131●●●●●●
120. 107589414 c.2152G>T p.V718L missense 0.00004129●●●●●●
121. 107583723 c.2893C>T p.R965C missense 0.00004126●●●●●●
122. 107564447 c.4593-7C>A splice site 0.00004126●●●●●●
123. 107583713 c.2903T>C p.M968T missense 0.00004126●●●●●●
124. 107576453 c.3847C>T p.R1283C missense 0.00004125●●●●●●
125. 107651440 c.103A>G p.I35V missense 0.00004122●●●●●●
126. 107547745 c.6577A>C p.I2193L missense 0.00004122●●●●●●
127. 107560821 c.5002G>A p.V1668I missense 0.00004122●●●●●●
128. 107599261 c.1311G>A p.R437R splice site 0.00004120●●●●●●
129. 107564393 c.4640C>T p.P1547L missense 0.00004119●●●●●●
130. 107589296 c.2270T>C p.L757P missense 0.00004119●●●●●●
131. 107623964 c.539A>G p.H180R missense 0.00004119●●●●●●
132. 107623977 c.526G>A p.D176N missense 0.00004119●●●●●●
133. 107555091 c.5733C>G p.I1911M missense 0.00004119●●●●●●
134. 107593318 c.1780G>A p.A594T missense 0.00004119●●●●●●
135. 107591339 c.1973G>T p.G658V missense 0.00004119●●●●●●
136. 107562784 c.4773+7C>T splice site 0.00004119●●●●●●
137. 107578479 c.3683G>A p.R1228Q missense 0.00004118●●●●●●
138. 107556779 c.5395A>G p.I1799V missense 0.00003330●●●●●●
139. 107576408 c.3892A>T p.I1298L missense 0.00003308●●●●●●
140. 107558624 c.5203C>G p.L1735V missense 0.00003307●●●●●●
141. 107589231 c.2335G>A p.A779T missense 0.00003304●●●●●●
142. 107582200 c.3103+8C>G splice site 0.00003304●●●●●●
143. 107602745 c.869A>G p.N290S missense 0.00003304●●●●●●
144. 107588171 c.2338-3_2338-2delCA splice site 0.00003303●●●●●●
145. 107571803 c.4218C>G p.N1406K missense 0.00003301●●●●●●
146. 107571772 c.4249C>T p.R1417C missense 0.00003301●●●●●●
147. 107560830 c.4993A>G p.M1665V missense 0.00003299●●●●●●
148. 107547805 c.6517C>T p.R2173W missense 0.00003298●●●●●●
149. 107574848 c.4050+7C>T splice site 0.00003298●●●●●●
150. 107576738 c.3757G>A p.E1253K missense 0.00003297●●●●●●
151. 107620979 c.544G>A p.V182I missense 0.00003297●●●●●●
152. 107593339 c.1759C>T p.R587W missense 0.00003296●●●●●●
153. 107555059 c.5757+8_5757+9delAG splice site 0.00003296●●●●●●
154. 107582315 c.2996G>T p.R999L missense 0.00003296●●●●●●
155. 107599272 c.1300G>A p.D434N missense 0.00003296●●●●●●
156. 107579614 c.3534C>T splice site 0.00003296●●●●●●
157. 107620963 c.560A>G p.Y187C missense 0.00003296●●●●●●
158. 107599732 c.1171G>T p.A391S missense 0.00003296●●●●●●
159. 107548661 c.6319T>C p.C2107R missense 0.00003296●●●●●●
160. 107579622 c.3526C>G p.L1176V missense 0.00003296●●●●●●
161. 107588087 c.2419G>A p.D807N missense 0.00003295●●●●●●
162. 107595033 c.1331A>C p.D444A missense 0.00003295●●●●●●
163. 107593329 c.1769G>T p.W590L missense 0.00003295●●●●●●
164. 107594865 c.1499G>A p.R500H missense 0.00003295●●●●●●
165. 107573080 c.4175+1G>T essential splice site 0.00003295●●●●●●
166. 107550316 c.6089G>A p.R2030Q missense 0.00003295●●●●●●
167. 107593272 c.1826C>T p.T609M missense 0.00003295●●●●●●
168. 107584927 c.2678C>T p.T893I missense 0.00003295●●●●●●
169. 107665929 c.32T>C p.L11P missense 0.00002786●●●●●●
170. 107554264 c.5773C>G p.R1925G missense 0.00002667●●●●●●
171. 107554264 c.5773C>T p.R1925W missense 0.00002667●●●●●●
172. 107602794 c.820A>C p.S274R missense 0.00002564●●●●●●
173. 107607760 c.811G>A p.E271K missense 0.00002540●●●●●●
174. 107607793 c.778A>G p.T260A missense 0.00002496●●●●●●
175. 107576395 c.3901+4T>G splice site 0.00002485●●●●●●
176. 107583765 c.2851C>T p.P951S missense 0.00002483●●●●●●
177. 107599843 c.1060T>C p.Y354H missense 0.00002482●●●●●●
178. 107571825 c.4196C>T p.T1399M missense 0.00002480●●●●●●
179. 107576519 c.3788-7C>A splice site 0.00002480●●●●●●
180. 107576420 c.3880A>G p.N1294D missense 0.00002478●●●●●●
181. 107582205 c.3103+3G>A splice site 0.00002477●●●●●●
182. 107591400 c.1912C>T p.R638W missense 0.00002477●●●●●●
183. 107556758 c.5416G>A p.V1806M missense 0.00002477●●●●●●
184. 107582203 c.3103+5G>A splice site 0.00002477●●●●●●
185. 107576491 c.3809G>A p.R1270Q missense 0.00002476●●●●●●
186. 107588167 c.2339G>C p.S780T missense 0.00002476●●●●●●
187. 107576449 c.3851C>T p.P1284L missense 0.00002475●●●●●●
188. 107576474 c.3826G>A p.G1276R missense 0.00002475●●●●●●
189. 107555167 c.5657C>T p.S1886F missense 0.00002473●●●●●●
190. 107553206 c.5924A>T p.N1975I missense 0.00002473●●●●●●
191. 107589396 c.2170G>A p.V724M missense 0.00002473●●●●●●
192. 107548676 c.6309-5C>T splice site 0.00002473●●●●●●
193. 107620961 c.562C>A p.Q188K missense 0.00002472●●●●●●
194. 107599765 c.1138G>A p.V380I missense 0.00002472●●●●●●
195. 107591298 c.2014C>T p.R672W missense 0.00002472●●●●●●
196. 107582289 c.3022G>A p.V1008M missense 0.00002472●●●●●●
197. 107550719 c.6057A>C p.K2019N missense 0.00002472●●●●●●
198. 107555135 c.5689C>T p.R1897W missense 0.00002472●●●●●●
199. 107555134 c.5690G>A p.R1897Q missense 0.00002472●●●●●●
200. 107582316 c.2995C>T p.R999C missense 0.00002472●●●●●●
201. 107593967 c.1651C>G p.H551D missense 0.00002472●●●●●●
202. 107589259 c.2307C>A p.D769E missense 0.00002472●●●●●●
203. 107602704 c.910G>A p.V304M missense 0.00002472●●●●●●
204. 107574875 c.4030C>T p.R1344W missense 0.00002472●●●●●●
205. 107582315 c.2996G>A p.R999H missense 0.00002472●●●●●●
206. 107564414 c.4619G>A p.S1540N missense 0.00002472●●●●●●
207. 107599782 c.1121C>T p.A374V missense 0.00002472●●●●●●
208. 107581963 c.3145G>A p.G1049R missense 0.00002471●●●●●●
209. 107624036 c.467G>T p.G156V missense 0.00002471●●●●●●
210. 107602593 c.1021G>A p.E341K missense 0.00002471●●●●●●
211. 107573130 c.4126A>G p.S1376G missense 0.00002471●●●●●●
212. 107550287 c.6118A>G p.K2040E missense 0.00002471●●●●●●
213. 107550242 c.6163A>G p.T2055A missense 0.00002471●●●●●●
214. 107581906 c.3202C>T p.R1068C missense 0.00002471●●●●●●
215. 107580991 c.3415C>G p.L1139V missense 0.00002471●●●●●●
216. 107562239 c.4804A>G p.I1602V missense 0.00002471●●●●●●
217. 107588035 c.2471C>T p.S824L missense 0.00002471●●●●●●
218. 107581035 c.3371C>T p.T1124I missense 0.00002471●●●●●●
219. 107556672 c.5502G>T p.R1834S missense 0.00002471●●●●●●
220. 107591315 c.1997G>A p.R666Q missense 0.00002471●●●●●●
221. 107549202 c.6260C>T p.A2087V missense 0.00002471●●●●●●
222. 107562785 c.4773+6C>T splice site 0.00002471●●●●●●
223. 107620834 c.689G>A p.R230H missense 0.00002471●●●●●●
224. 107578518 c.3644A>C p.E1215A missense 0.00002471●●●●●●
225. 107594979 c.1385A>G p.D462G missense 0.00002471●●●●●●
226. 107584795 c.2810C>T p.A937V missense 0.00002471●●●●●●
227. 107581164 c.3242G>A p.G1081D missense 0.00002116●●●●●●
228. 107554222 c.5815G>A p.G1939S missense 0.00001766●●●●●●
229. 107607846 c.725C>G p.T242R missense 0.00001739●●●●●●
230. 107558687 c.5140G>A p.A1714T missense 0.00001717●●●●●●
231. 107607763 c.808C>G p.Q270E missense 0.00001688●●●●●●
232. 107589440 c.2126T>A p.L709Q missense 0.00001677●●●●●●
233. 107547891 c.6431G>A p.R2144Q missense 0.00001664●●●●●●
234. 107583787 c.2829G>C p.M943I missense 0.00001663●●●●●●
235. 107593923 c.1695G>C p.R565S missense 0.00001662●●●●●●
236. 107571845 c.4176C>T p.S1392S splice site 0.00001661●●●●●●
237. 107550853 c.5928-5T>A splice site 0.00001654●●●●●●
238. 107589417 c.2149G>A p.V717M missense 0.00001652●●●●●●
239. 107547853 c.6469G>A p.D2157N missense 0.00001652●●●●●●
240. 107568692 c.4294G>C p.G1432R missense 0.00001652●●●●●●
241. 107547677 c.6645A>G splice site 0.00001652●●●●●●
242. 107571819 c.4202C>T p.T1401I missense 0.00001652●●●●●●
243. 107583702 c.2914C>T p.R972W missense 0.00001651●●●●●●
244. 107576507 c.3793A>G p.T1265A missense 0.00001651●●●●●●
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739. 107587984 c.2522A>G p.Y841C missense 0.00000824●●●●●●
740. 107646742 c.268G>A p.A90T missense 0.00000824●●●●●●
741. 107550722 c.6054G>T p.E2018D missense 0.00000824●●●●●●
742. 107546667 c.6715C>T p.Q2239X nonsense 0.00000824●●●●●●
743. 107556725 c.5449C>T p.R1817X nonsense 0.00000824●●●●●●
744. 107594940 c.1424A>G p.Q475R missense 0.00000824●●●●●●
745. 107591254 c.2058C>A p.F686L missense 0.00000824●●●●●●
746. 107645364 c.377G>A p.R126H missense 0.00000824●●●●●●
747. 107594849 c.1509+6T>G splice site 0.00000824●●●●●●
748. 107568620 c.4366A>G p.M1456V missense 0.00000824●●●●●●
749. 107560719 c.5104A>G p.N1702D missense 0.00000824●●●●●●
750. 107582286 c.3025A>G p.K1009E missense 0.00000824●●●●●●
751. 107550702 c.6069+5T>C splice site 0.00000824●●●●●●
752. 107565597 c.4560C>G p.S1520R missense 0.00000824●●●●●●
753. 107558351 c.5365G>C p.E1789Q missense 0.00000824●●●●●●
754. 107550242 c.6163A>T p.T2055S missense 0.00000824●●●●●●
755. 107582008 c.3104-4G>A splice site 0.00000824●●●●●●
756. 107548677 c.6309-6C>T splice site 0.00000824●●●●●●
757. 107645343 c.398A>C p.Q133P missense 0.00000824●●●●●●
758. 107594877 c.1487G>A p.R496Q missense 0.00000824●●●●●●
759. 107594923 c.1441G>T p.V481L missense 0.00000824●●●●●●
760. 107566931 c.4535C>T p.T1512M missense 0.00000824●●●●●●
761. 107581038 c.3368G>A p.G1123E missense 0.00000824●●●●●●
762. 107562849 c.4715G>A p.R1572Q missense 0.00000824●●●●●●
763. 107574848 c.4050+7C>A splice site 0.00000824●●●●●●
764. 107602689 c.925delT p.Cys309AlafsTer9 frameshift 0.00000824●●●●●●
765. 107602676 c.938A>T p.E313V missense 0.00000824●●●●●●
766. 107555462 c.5626A>G p.I1876V missense 0.00000824●●●●●●
767. 107548610 c.6370T>G p.C2124G missense 0.00000824●●●●●●
768. 107602636 c.978G>T p.E326D missense 0.00000824●●●●●●
769. 107593321 c.1777T>C p.F593L missense 0.00000824●●●●●●
770. 107593217 c.1881C>G p.Y627X nonsense 0.00000824●●●●●●
771. 107620948 c.575C>G p.T192R missense 0.00000824●●●●●●
772. 107562125 c.4918A>G p.K1640E missense 0.00000824●●●●●●
773. 107547762 c.6560T>C p.L2187P missense 0.00000824●●●●●●
774. 107574889 c.4016T>C p.I1339T missense 0.00000824●●●●●●
775. 107588016 c.2490T>A p.F830L missense 0.00000824●●●●●●
776. 107580998 c.3408A>C p.E1136D missense 0.00000824●●●●●●
777. 107562856 c.4708G>A p.A1570T missense 0.00000824●●●●●●
778. 107574847 c.4050+8G>A splice site 0.00000824●●●●●●
779. 107567009 c.4465-8G>A splice site 0.00000824●●●●●●
780. 107588006 c.2500C>T p.L834F missense 0.00000824●●●●●●
781. 107580969 c.3437G>A p.S1146N missense 0.00000824●●●●●●
782. 107573154 c.4102G>A p.V1368M missense 0.00000824●●●●●●
783. 107555150 c.5674G>C p.D1892H missense 0.00000824●●●●●●
784. 107595013 c.1351C>T p.Q451X nonsense 0.00000824●●●●●●
785. 107586776 c.2626C>T p.P876S missense 0.00000824●●●●●●
786. 107555516 c.5572G>A p.V1858M missense 0.00000824●●●●●●
787. 107578572 c.3590T>A p.V1197E missense 0.00000824●●●●●●
788. 107560755 c.5068A>G p.I1690V 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.