ACE missense variants in ExAC

ACE gene summary
ACE variants in

The table below lists the ACE 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. 61574662 c.3856C>A p.R1286S missense 0.01385061●●●●●●
2. 61557773 c.731A>G p.Y244C missense 0.01083408●●●●●●
3. 61557823 c.781G>T p.A261S missense 0.00892445●●●●●●
4. 61559041 c.1060G>A p.G354R missense 0.00784093●●●●●●
5. 61574642 c.3836G>A p.R1279Q missense 0.00566387●●●●●●
6. 61561756 c.1775A>G p.D592G missense 0.00502112●●●●●●
7. 61568577 c.2747C>T p.T916M missense 0.00434826●●●●●●
8. 61574675 c.3869G>A p.R1290Q missense 0.00311019●●●●●●
9. 61558951 c.970C>T p.R324W missense 0.00246783●●●●●●
10. 61566095 c.2392A>G p.I798V missense 0.00198521●●●●●●
11. 61560033 c.1325G>A p.R442H missense 0.00161060●●●●●●
12. 61556429 c.479A>G p.N160S missense 0.00157901●●●●●●
13. 61568688 c.2858G>A p.R953Q missense 0.00127881●●●●●●
14. 61561304 c.1681C>T p.R561W missense 0.00099632●●●●●●
15. 61574215 c.3560C>T p.T1187M missense 0.00099377●●●●●●
16. 61562654 c.1979C>G p.S660C missense 0.00095890●●●●●●
17. 61571755 c.3304C>A p.P1102T missense 0.00091817●●●●●●
18. 61556410 c.460G>A p.A154T missense 0.00090130●●●●●●
19. 61559850 c.1142C>T p.T381M missense 0.00075584●●●●●●
20. 61570992 c.3108C>A p.N1036K missense 0.00073934●●●●●●
21. 61558936 c.955G>T p.A319S missense 0.00064045●●●●●●
22. 61558467 c.863A>G p.Q288R missense 0.00062860●●●●●●
23. 61557165 c.547G>A p.A183T missense 0.00058859●●●●●●
24. 61554668 c.213C>G p.H71Q missense 0.00055734●●●●●●
25. 61559038 c.1057G>A p.D353N missense 0.00050461●●●●●●
26. 61560501 c.1454C>G p.P485R missense 0.00049464●●●●●●
27. 61574311 c.3656T>C p.L1219P missense 0.00049144●●●●●●
28. 61557223 c.605C>T p.P202L missense 0.00046992●●●●●●
29. 61560846 c.1513C>G p.P505A missense 0.00044489●●●●●●
30. 61560876 c.1543G>T p.A515S missense 0.00043672●●●●●●
31. 61574284 c.3629C>T p.T1210M missense 0.00043506●●●●●●
32. 61554664 c.209C>T p.A70V missense 0.00043114●●●●●●
33. 61570937 c.3053T>C p.I1018T missense 0.00042067●●●●●●
34. 61556415 c.465G>C p.K155N missense 0.00037055●●●●●●
35. 61574527 c.3721G>A p.G1241S missense 0.00034220●●●●●●
36. 61574572 c.3766C>T p.R1256C missense 0.00031444●●●●●●
37. 61556453 c.503T>C p.L168P missense 0.00031092●●●●●●
38. 61564428 c.2299G>A p.E767K missense 0.00030831●●●●●●
39. 61559924 c.1216G>A p.V406I missense 0.00030508●●●●●●
40. 61561749 c.1768G>A p.G590S missense 0.00029707●●●●●●
41. 61557841 c.799G>A p.G267R missense 0.00029663●●●●●●
42. 61559033 c.1052C>T p.P351L missense 0.00028962●●●●●●
43. 61564420 c.2291T>A p.L764Q missense 0.00028310●●●●●●
44. 61562671 c.1996G>A p.E666K missense 0.00027282●●●●●●
45. 61570816 c.2932G>A p.V978M missense 0.00026464●●●●●●
46. 61558532 c.928A>G p.S310G missense 0.00025675●●●●●●
47. 61559937 c.1229G>A p.R410Q missense 0.00025578●●●●●●
48. 61554602 c.147C>A p.F49L missense 0.00024390●●●●●●
49. 61554611 c.156C>A p.S52R missense 0.00023491●●●●●●
50. 61559967 c.1259T>C p.I420T missense 0.00023097●●●●●●
51. 61570929 c.3045T>A p.H1015Q missense 0.00022267●●●●●●
52. 61562680 c.2005G>A p.E669K missense 0.00020668●●●●●●
53. 61561331 c.1708C>T p.R570W missense 0.00020093●●●●●●
54. 61554669 c.214G>T p.D72Y missense 0.00018629●●●●●●
55. 61571827 c.3376A>C p.I1126L missense 0.00016632●●●●●●
56. 61560491 c.1444C>T p.R482C missense 0.00016482●●●●●●
57. 61571372 c.3226G>T p.V1076L missense 0.00016478●●●●●●
58. 61574641 c.3835C>T p.R1279W missense 0.00016146●●●●●●
59. 61557724 c.682C>T p.R228C missense 0.00015691●●●●●●
60. 61560506 c.1459C>T p.R487C missense 0.00015666●●●●●●
61. 61574704 c.3898G>A p.E1300K missense 0.00015473●●●●●●
62. 61574674 c.3868C>T p.R1290W missense 0.00014771●●●●●●
63. 61574608 c.3802G>A p.A1268T missense 0.00014234●●●●●●
64. 61574663 c.3857G>A p.R1286H missense 0.00014094●●●●●●
65. 61566335 c.2483T>C p.M828T missense 0.00014021●●●●●●
66. 61560500 c.1453C>G p.P485A missense 0.00014014●●●●●●
67. 61566425 c.2573G>A p.R858Q missense 0.00013248●●●●●●
68. 61566035 c.2332C>T p.R778W missense 0.00013180●●●●●●
69. 61568742 c.2912G>A p.R971Q missense 0.00012399●●●●●●
70. 61554595 c.140A>G p.Q47R missense 0.00012390●●●●●●
71. 61554637 c.182T>A p.L61Q missense 0.00011197●●●●●●
72. 61574603 c.3797G>A p.G1266D missense 0.00010416●●●●●●
73. 61568634 c.2804C>T p.P935L missense 0.00009893●●●●●●
74. 61566144 c.2441G>A p.R814Q missense 0.00009887●●●●●●
75. 61574501 c.3695G>A p.R1232H missense 0.00009584●●●●●●
76. 61555310 c.268A>G p.S90G missense 0.00009265●●●●●●
77. 61561896 c.1915G>A p.G639S missense 0.00009260●●●●●●
78. 61561893 c.1912G>A p.E638K missense 0.00009162●●●●●●
79. 61554704 c.249G>C p.Q83H missense 0.00009161●●●●●●
80. 61554535 c.80C>T p.A27V missense 0.00009066●●●●●●
81. 61556397 c.447G>C p.R149S missense 0.00008827●●●●●●
82. 61571017 c.3133G>A p.D1045N missense 0.00008595●●●●●●
83. 61557202 c.584C>T p.A195V missense 0.00008308●●●●●●
84. 61560026 c.1318C>G p.L440V missense 0.00008293●●●●●●
85. 61562724 c.2049C>A p.S683R missense 0.00008285●●●●●●
86. 61555308 c.266T>A p.L89H missense 0.00008273●●●●●●
87. 61559066 c.1085C>G p.S362W missense 0.00008269●●●●●●
88. 61566111 c.2408C>T p.P803L missense 0.00008238●●●●●●
89. 61554562 c.107C>T p.P36L missense 0.00007848●●●●●●
90. 61574533 c.3727G>A p.V1243I missense 0.00007839●●●●●●
91. 61574697 c.3891C>G p.F1297L missense 0.00007695●●●●●●
92. 61573871 c.3497G>A p.R1166H missense 0.00007464●●●●●●
93. 61573864 c.3490G>A p.G1164R missense 0.00007458●●●●●●
94. 61562707 c.2032A>G p.I678V missense 0.00007447●●●●●●
95. 61564048 c.2189C>A p.A730E missense 0.00007427●●●●●●
96. 61568381 c.2708C>T p.S903L missense 0.00007417●●●●●●
97. 61554579 c.124G>A p.D42N missense 0.00007016●●●●●●
98. 61571758 c.3307C>A p.P1103T missense 0.00006729●●●●●●
99. 61574656 c.3850C>T p.R1284C missense 0.00006676●●●●●●
100. 61560008 c.1300C>G p.L434V missense 0.00006615●●●●●●
101. 61557715 c.673G>T p.A225S missense 0.00006611●●●●●●
102. 61564014 c.2155C>T p.R719W missense 0.00006602●●●●●●
103. 61559951 c.1243G>A p.G415S missense 0.00006597●●●●●●
104. 61571327 c.3181G>A p.A1061T missense 0.00006590●●●●●●
105. 61566065 c.2362G>A p.E788K missense 0.00006590●●●●●●
106. 61554588 c.133G>C p.G45R missense 0.00006542●●●●●●
107. 61554589 c.134G>A p.G45E missense 0.00006455●●●●●●
108. 61554666 c.211C>T p.H71Y missense 0.00006158●●●●●●
109. 61554666 c.211C>G p.H71D missense 0.00006158●●●●●●
110. 61554610 c.155G>A p.S52N missense 0.00005889●●●●●●
111. 61558493 c.889G>A p.V297M missense 0.00005787●●●●●●
112. 61560507 c.1460G>A p.R487H missense 0.00005773●●●●●●
113. 61570921 c.3037G>A p.G1013S missense 0.00005772●●●●●●
114. 61554644 c.189G>C p.Q63H missense 0.00005739●●●●●●
115. 61554645 c.190A>G p.S64G missense 0.00005710●●●●●●
116. 61554646 c.191G>A p.S64N missense 0.00005708●●●●●●
117. 61574320 c.3665C>T p.P1222L missense 0.00005585●●●●●●
118. 61574642 c.3836G>C p.R1279P missense 0.00005446●●●●●●
119. 61561316 c.1693G>A p.A565T missense 0.00005246●●●●●●
120. 61555451 c.409C>G p.R137G missense 0.00005232●●●●●●
121. 61574335 c.3680C>T p.T1227M missense 0.00005146●●●●●●
122. 61559843 c.1135C>T p.R379W missense 0.00005009●●●●●●
123. 61563949 c.2090C>A p.T697N missense 0.00004978●●●●●●
124. 61557157 c.539G>A p.R180Q missense 0.00004974●●●●●●
125. 61558530 c.926C>G p.T309S missense 0.00004968●●●●●●
126. 61558518 c.914A>G p.N305S missense 0.00004964●●●●●●
127. 61566020 c.2317G>A p.V773M missense 0.00004943●●●●●●
128. 61561332 c.1709G>A p.R570Q missense 0.00004877●●●●●●
129. 61561719 c.1738C>A p.P580T missense 0.00004807●●●●●●
130. 61561870 c.1889C>T p.P630L missense 0.00004772●●●●●●
131. 61555403 c.361A>G p.I121V missense 0.00004500●●●●●●
132. 61555323 c.281C>T p.A94V missense 0.00004371●●●●●●
133. 61571017 c.3133G>C p.D1045H missense 0.00004298●●●●●●
134. 61571818 c.3367G>A p.V1123M missense 0.00004296●●●●●●
135. 61559827 c.1119G>T p.R373S missense 0.00004271●●●●●●
136. 61557231 c.613G>A p.E205K missense 0.00004234●●●●●●
137. 61574235 c.3580G>A p.A1194T missense 0.00004229●●●●●●
138. 61574194 c.3539C>T p.P1180L missense 0.00004222●●●●●●
139. 61558952 c.971G>A p.R324Q missense 0.00004209●●●●●●
140. 61557214 c.596C>T p.P199L missense 0.00004175●●●●●●
141. 61559844 c.1136G>A p.R379Q missense 0.00004170●●●●●●
142. 61564417 c.2288G>A p.C763Y missense 0.00004161●●●●●●
143. 61566418 c.2566G>A p.V856M missense 0.00004137●●●●●●
144. 61561278 c.1655G>A p.G552D missense 0.00004137●●●●●●
145. 61559062 c.1081G>A p.A361T missense 0.00004135●●●●●●
146. 61561858 c.1877A>C p.Y626S missense 0.00004128●●●●●●
147. 61559975 c.1267G>A p.V423M missense 0.00004126●●●●●●
148. 61573777 c.3403C>A p.Q1135K missense 0.00004124●●●●●●
149. 61566320 c.2468A>T p.D823V missense 0.00004123●●●●●●
150. 61568322 c.2649G>A p.M883I missense 0.00004121●●●●●●
151. 61560891 c.1558C>A p.H520N missense 0.00004121●●●●●●
152. 61571379 c.3233A>G p.D1078G missense 0.00004120●●●●●●
153. 61560492 c.1445G>C p.R482P missense 0.00004120●●●●●●
154. 61566128 c.2425A>G p.I809V missense 0.00004119●●●●●●
155. 61555295 c.253G>A p.E85K missense 0.00004091●●●●●●
156. 61561873 c.1892C>T p.P631L missense 0.00003820●●●●●●
157. 61555425 c.383G>C p.G128A missense 0.00003785●●●●●●
158. 61561768 c.1787C>T p.A596V missense 0.00003689●●●●●●
159. 61556428 c.478A>C p.N160H missense 0.00003584●●●●●●
160. 61574290 c.3635A>C p.N1212T missense 0.00003501●●●●●●
161. 61574281 c.3626G>A p.R1209H missense 0.00003466●●●●●●
162. 61555415 c.373C>T p.R125C missense 0.00003425●●●●●●
163. 61558936 c.955G>A p.A319T missense 0.00003416●●●●●●
164. 61574239 c.3584C>T p.S1195L missense 0.00003388●●●●●●
165. 61574617 c.3811G>A p.V1271I missense 0.00003357●●●●●●
166. 61560048 c.1340C>T p.T447M missense 0.00003334●●●●●●
167. 61566436 c.2584C>T p.R862C missense 0.00003318●●●●●●
168. 61559002 c.1021G>A p.E341K missense 0.00003317●●●●●●
169. 61558536 c.932C>G p.T311S missense 0.00003314●●●●●●
170. 61559991 c.1283T>G p.V428G missense 0.00003304●●●●●●
171. 61566370 c.2518C>T p.R840W missense 0.00003303●●●●●●
172. 61564045 c.2186G>A p.R729Q missense 0.00003301●●●●●●
173. 61573762 c.3388G>A p.V1130I missense 0.00003299●●●●●●
174. 61559933 c.1225C>T p.R409C missense 0.00003298●●●●●●
175. 61559934 c.1226G>A p.R409H missense 0.00003298●●●●●●
176. 61568323 c.2650T>C p.W884R missense 0.00003297●●●●●●
177. 61557820 c.778C>T p.R260C missense 0.00003296●●●●●●
178. 61560492 c.1445G>A p.R482H missense 0.00003296●●●●●●
179. 61566009 c.2306A>G p.D769G missense 0.00003296●●●●●●
180. 61571354 c.3208G>A p.D1070N missense 0.00003295●●●●●●
181. 61571351 c.3205G>A p.V1069I missense 0.00003295●●●●●●
182. 61566029 c.2326A>G p.T776A missense 0.00003295●●●●●●
183. 61566011 c.2308C>G p.L770V missense 0.00003295●●●●●●
184. 61560471 c.1424G>A p.R475H missense 0.00003295●●●●●●
185. 61561897 c.1916G>T p.G639V missense 0.00003105●●●●●●
186. 61561891 c.1910C>T p.P637L missense 0.00003012●●●●●●
187. 61555400 c.358A>T p.I120F missense 0.00002927●●●●●●
188. 61561833 c.1852G>A p.G618S missense 0.00002861●●●●●●
189. 61555457 c.415C>G p.Q139E missense 0.00002836●●●●●●
190. 61557258 c.640G>A p.A214T missense 0.00002801●●●●●●
191. 61561774 c.1793C>T p.P598L missense 0.00002756●●●●●●
192. 61557254 c.636T>A p.N212K missense 0.00002730●●●●●●
193. 61555452 c.410G>A p.R137Q missense 0.00002718●●●●●●
194. 61561311 c.1688C>T p.T563I missense 0.00002576●●●●●●
195. 61574263 c.3608C>T p.P1203L missense 0.00002561●●●●●●
196. 61574188 c.3533C>T p.P1178L missense 0.00002535●●●●●●
197. 61566457 c.2605A>G p.I869V missense 0.00002500●●●●●●
198. 61557208 c.590G>A p.G197D missense 0.00002495●●●●●●
199. 61557201 c.583G>A p.A195T missense 0.00002492●●●●●●
200. 61566437 c.2585G>A p.R862H missense 0.00002489●●●●●●
201. 61558538 c.934A>G p.M312V missense 0.00002486●●●●●●
202. 61559018 c.1037C>T p.S346L missense 0.00002485●●●●●●
203. 61559084 c.1103A>G p.N368S missense 0.00002483●●●●●●
204. 61558524 c.920A>G p.D307G missense 0.00002483●●●●●●
205. 61559044 c.1063C>T p.R355W missense 0.00002481●●●●●●
206. 61559053 c.1072G>A p.V358M missense 0.00002480●●●●●●
207. 61570967 c.3083C>T p.T1028M missense 0.00002480●●●●●●
208. 61568741 c.2911C>T p.R971W missense 0.00002479●●●●●●
209. 61559982 c.1274C>T p.A425V missense 0.00002477●●●●●●
210. 61573820 c.3446C>T p.T1149M missense 0.00002477●●●●●●
211. 61564044 c.2185C>T p.R729W missense 0.00002476●●●●●●
212. 61560913 c.1580A>G p.Y527C missense 0.00002476●●●●●●
213. 61570945 c.3061G>A p.V1021M missense 0.00002475●●●●●●
214. 61568669 c.2839G>A p.E947K missense 0.00002474●●●●●●
215. 61557751 c.709G>A p.E237K missense 0.00002474●●●●●●
216. 61570892 c.3008C>T p.P1003L missense 0.00002474●●●●●●
217. 61566150 c.2447A>G p.N816S missense 0.00002472●●●●●●
218. 61560861 c.1528G>A p.E510K missense 0.00002472●●●●●●
219. 61560829 c.1496A>G p.Y499C missense 0.00002472●●●●●●
220. 61568381 c.2708C>G p.S903W missense 0.00002472●●●●●●
221. 61566084 c.2381C>T p.A794V missense 0.00002471●●●●●●
222. 61571309 c.3163A>C p.M1055L missense 0.00002471●●●●●●
223. 61566075 c.2372G>A p.R791Q missense 0.00002471●●●●●●
224. 61566023 c.2320A>G p.M774V missense 0.00002471●●●●●●
225. 61555445 c.403G>A p.A135T missense 0.00002400●●●●●●
226. 61574531 c.3725G>A p.R1242H missense 0.00002227●●●●●●
227. 61555362 c.320C>G p.P107R missense 0.00002218●●●●●●
228. 61555343 c.301G>A p.A101T missense 0.00002135●●●●●●
229. 61555337 c.295C>G p.Q99E missense 0.00002132●●●●●●
230. 61561694 c.1713G>C p.K571N missense 0.00002100●●●●●●
231. 61574338 c.3683C>T p.P1228L missense 0.00002079●●●●●●
232. 61561857 c.1876T>G p.Y626D missense 0.00002020●●●●●●
233. 61561854 c.1873G>A p.E625K missense 0.00002009●●●●●●
234. 61561836 c.1855G>A p.E619K missense 0.00001918●●●●●●
235. 61574319 c.3664C>T p.P1222S missense 0.00001853●●●●●●
236. 61561783 c.1802A>G p.K601R missense 0.00001833●●●●●●
237. 61557243 c.625G>A p.A209T missense 0.00001742●●●●●●
238. 61574284 c.3629C>G p.T1210R missense 0.00001740●●●●●●
239. 61558940 c.959C>T p.T320M missense 0.00001700●●●●●●
240. 61561305 c.1682G>A p.R561Q missense 0.00001698●●●●●●
241. 61574193 c.3538C>G p.P1180A missense 0.00001689●●●●●●
242. 61571795 c.3344C>A p.A1115D missense 0.00001686●●●●●●
243. 61574213 c.3558C>G p.I1186M missense 0.00001684●●●●●●
244. 61557220 c.602A>C p.K201T missense 0.00001673●●●●●●
245. 61557205 c.587C>T p.A196V missense 0.00001662●●●●●●
246. 61560032 c.1324C>T p.R442C missense 0.00001660●●●●●●
247. 61560033 c.1325G>C p.R442P missense 0.00001660●●●●●●
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498. 61568348 c.2675A>G p.Y892C missense 0.00000824●●●●●●
499. 61568320 c.2647A>G p.M883V missense 0.00000824●●●●●●
500. 61557788 c.746C>T p.P249L missense 0.00000824●●●●●●
501. 61557766 c.724C>G p.H242D missense 0.00000824●●●●●●
502. 61560504 c.1457C>T p.S486F missense 0.00000824●●●●●●
503. 61560822 c.1489A>G p.T497A missense 0.00000824●●●●●●
504. 61568645 c.2815G>C p.E939Q missense 0.00000824●●●●●●
505. 61566049 c.2346C>A p.D782E missense 0.00000824●●●●●●
506. 61560471 c.1424G>T p.R475L missense 0.00000824●●●●●●
507. 61560467 c.1420T>C p.W474R missense 0.00000824●●●●●●
508. 61568384 c.2711T>C p.M904T missense 0.00000824●●●●●●
509. 61557809 c.767C>T p.A256V missense 0.00000824●●●●●●
510. 61566067 c.2364G>T p.E788D missense 0.00000824●●●●●●
511. 61571311 c.3165G>A p.M1055I missense 0.00000824●●●●●●
512. 61560858 c.1525A>G p.N509D missense 0.00000824●●●●●●
513. 61560844 c.1511C>G p.P504R missense 0.00000824●●●●●●
514. 61566125 c.2422C>T p.L808F missense 0.00000824●●●●●●
515. 61560492 c.1445G>T p.R482L missense 0.00000824●●●●●●
516. 61566143 c.2440C>T p.R814W missense 0.00000824●●●●●●
517. 61557868 c.826C>T p.P276S missense 0.00000824●●●●●●
518. 61557766 c.724C>T p.H242Y missense 0.00000824●●●●●●
519. 61568359 c.2686G>A p.V896M missense 0.00000824●●●●●●
520. 61557791 c.749T>C p.L250P missense 0.00000824●●●●●●
521. 61557821 c.779G>A p.R260H missense 0.00000824●●●●●●
522. 61560470 c.1423C>T p.R475C missense 0.00000824●●●●●●
523. 61566081 c.2378A>C p.K793T missense 0.00000824●●●●●●
524. 61568651 c.2821T>G p.W941G missense 0.00000824●●●●●●
525. 61566056 c.2353T>G p.W785G missense 0.00000824●●●●●●
526. 61560482 c.1435T>G p.F479V missense 0.00000824●●●●●●
527. 61568387 c.2714A>G p.D905G missense 0.00000824●●●●●●
528. 61557814 c.772G>A p.V258I missense 0.00000824●●●●●●
529. 61571291 c.3145A>G p.I1049V missense 0.00000824●●●●●●
530. 61560849 c.1516G>A p.V506I missense 0.00000824●●●●●●
531. 61560864 c.1531A>G p.T511A missense 0.00000824●●●●●●
532. 61560500 c.1453C>A p.P485T missense 0.00000824●●●●●●
533. 61568625 c.2795G>C p.G932A missense 0.00000824●●●●●●
534. 61557802 c.760C>G p.L254V missense 0.00000824●●●●●●
535. 61557784 c.742G>C p.E248Q missense 0.00000824●●●●●●
536. 61568651 c.2821T>C p.W941R missense 0.00000824●●●●●●
537. 61571364 c.3218G>T p.R1073L missense 0.00000824●●●●●●
538. 61566314 c.2462C>T p.A821V missense 0.00000824●●●●●●
539. 61560835 c.1502G>A p.G501E missense 0.00000824●●●●●●
540. 61566083 c.2380G>A p.A794T missense 0.00000824●●●●●●
541. 61557814 c.772G>C p.V258L missense 0.00000824●●●●●●
542. 61566015 c.2312C>T p.T771M missense 0.00000824●●●●●●
543. 61557833 c.791G>A p.R264H missense 0.00000824●●●●●●
544. 61568333 c.2660C>A p.T887N missense 0.00000824●●●●●●
545. 61560856 c.1523G>A p.R508Q missense 0.00000824●●●●●●
546. 61570904 c.3020G>A p.R1007K missense 0.00000824●●●●●●
547. 61560501 c.1454C>A p.P485H missense 0.00000824●●●●●●
548. 61566138 c.2435C>T p.A812V missense 0.00000824●●●●●●
549. 61568658 c.2828A>G p.K943R missense 0.00000824●●●●●●
550. 61571312 c.3166G>A p.A1056T missense 0.00000824●●●●●●
551. 61557802 c.760C>T p.L254F missense 0.00000824●●●●●●
552. 61568656 c.2826C>G p.N942K missense 0.00000824●●●●●●
553. 61571382 c.3236G>A p.G1079E missense 0.00000824●●●●●●
554. 61571294 c.3148A>G p.N1050D missense 0.00000824●●●●●●
555. 61557839 c.797A>G p.Y266C missense 0.00000824●●●●●●
556. 61560843 c.1510C>T p.P504S missense 0.00000824●●●●●●
557. 61557846 c.804C>G p.D268E 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.