ACE variants in ExAC

ACE gene summary
ACE variants in

The table below lists the ACE 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. 61574492 c.3692-6G>A splice site 0.55618045●●●●●●
2. 61565998 c.2306-11A>C splice site 0.49957918●●●●●●
3. 61554494 c.39_44dupGCTGCC p.Pro15_Leu16insLeuPro inframe 0.06014250●●●●●●
4. 61574662 c.3856C>A p.R1286S missense 0.01385061●●●●●●
5. 61557773 c.731A>G p.Y244C missense 0.01083408●●●●●●
6. 61571836 c.3380+5C>T splice site 0.01032149●●●●●●
7. 61574351 c.3691+5C>T splice site 0.00908031●●●●●●
8. 61557823 c.781G>T p.A261S missense 0.00892445●●●●●●
9. 61559041 c.1060G>A p.G354R missense 0.00784093●●●●●●
10. 61574642 c.3836G>A p.R1279Q missense 0.00566387●●●●●●
11. 61561756 c.1775A>G p.D592G missense 0.00502112●●●●●●
12. 61568577 c.2747C>T p.T916M missense 0.00434826●●●●●●
13. 61559819 c.1119-8C>T splice site 0.00314275●●●●●●
14. 61574675 c.3869G>A p.R1290Q missense 0.00311019●●●●●●
15. 61558951 c.970C>T p.R324W missense 0.00246783●●●●●●
16. 61557689 c.656-9C>T splice site 0.00223596●●●●●●
17. 61560049 c.1341G>C p.T447T splice site 0.00218650●●●●●●
18. 61566095 c.2392A>G p.I798V missense 0.00198521●●●●●●
19. 61555467 c.417+8G>A splice site 0.00175450●●●●●●
20. 61560033 c.1325G>A p.R442H missense 0.00161060●●●●●●
21. 61556429 c.479A>G p.N160S missense 0.00157901●●●●●●
22. 61568688 c.2858G>A p.R953Q missense 0.00127881●●●●●●
23. 61561304 c.1681C>T p.R561W missense 0.00099632●●●●●●
24. 61574215 c.3560C>T p.T1187M missense 0.00099377●●●●●●
25. 61562654 c.1979C>G p.S660C missense 0.00095890●●●●●●
26. 61571755 c.3304C>A p.P1102T missense 0.00091817●●●●●●
27. 61556410 c.460G>A p.A154T missense 0.00090130●●●●●●
28. 61555284 c.250-8C>T splice site 0.00078543●●●●●●
29. 61559850 c.1142C>T p.T381M missense 0.00075584●●●●●●
30. 61570992 c.3108C>A p.N1036K missense 0.00073934●●●●●●
31. 61558936 c.955G>T p.A319S missense 0.00064045●●●●●●
32. 61558467 c.863A>G p.Q288R missense 0.00062860●●●●●●
33. 61557165 c.547G>A p.A183T missense 0.00058859●●●●●●
34. 61554668 c.213C>G p.H71Q missense 0.00055734●●●●●●
35. 61560542 c.1487+8_1487+9delGA splice site 0.00055403●●●●●●
36. 61574174 c.3519delG p.Gly1174AlafsTer12 frameshift 0.00053254●●●●●●
37. 61559038 c.1057G>A p.D353N missense 0.00050461●●●●●●
38. 61574356 c.3691+10C>T splice site 0.00050192●●●●●●
39. 61560501 c.1454C>G p.P485R missense 0.00049464●●●●●●
40. 61574311 c.3656T>C p.L1219P missense 0.00049144●●●●●●
41. 61557223 c.605C>T p.P202L missense 0.00046992●●●●●●
42. 61560846 c.1513C>G p.P505A missense 0.00044489●●●●●●
43. 61560876 c.1543G>T p.A515S missense 0.00043672●●●●●●
44. 61574284 c.3629C>T p.T1210M missense 0.00043506●●●●●●
45. 61554664 c.209C>T p.A70V missense 0.00043114●●●●●●
46. 61570937 c.3053T>C p.I1018T missense 0.00042067●●●●●●
47. 61556415 c.465G>C p.K155N missense 0.00037055●●●●●●
48. 61574527 c.3721G>A p.G1241S missense 0.00034220●●●●●●
49. 61574572 c.3766C>T p.R1256C missense 0.00031444●●●●●●
50. 61556453 c.503T>C p.L168P missense 0.00031092●●●●●●
51. 61564428 c.2299G>A p.E767K missense 0.00030831●●●●●●
52. 61559924 c.1216G>A p.V406I missense 0.00030508●●●●●●
53. 61561749 c.1768G>A p.G590S missense 0.00029707●●●●●●
54. 61557841 c.799G>A p.G267R missense 0.00029663●●●●●●
55. 61559033 c.1052C>T p.P351L missense 0.00028962●●●●●●
56. 61564420 c.2291T>A p.L764Q missense 0.00028310●●●●●●
57. 61562671 c.1996G>A p.E666K missense 0.00027282●●●●●●
58. 61570816 c.2932G>A p.V978M missense 0.00026464●●●●●●
59. 61558532 c.928A>G p.S310G missense 0.00025675●●●●●●
60. 61559937 c.1229G>A p.R410Q missense 0.00025578●●●●●●
61. 61554602 c.147C>A p.F49L missense 0.00024390●●●●●●
62. 61554611 c.156C>A p.S52R missense 0.00023491●●●●●●
63. 61559967 c.1259T>C p.I420T missense 0.00023097●●●●●●
64. 61570929 c.3045T>A p.H1015Q missense 0.00022267●●●●●●
65. 61554494 c.39_44delGCTGCC p.Pro15_Leu16del inframe 0.00020956●●●●●●
66. 61562680 c.2005G>A p.E669K missense 0.00020668●●●●●●
67. 61561331 c.1708C>T p.R570W missense 0.00020093●●●●●●
68. 61554669 c.214G>T p.D72Y missense 0.00018629●●●●●●
69. 61571827 c.3376A>C p.I1126L missense 0.00016632●●●●●●
70. 61560491 c.1444C>T p.R482C missense 0.00016482●●●●●●
71. 61571372 c.3226G>T p.V1076L missense 0.00016478●●●●●●
72. 61574641 c.3835C>T p.R1279W missense 0.00016146●●●●●●
73. 61557724 c.682C>T p.R228C missense 0.00015691●●●●●●
74. 61560506 c.1459C>T p.R487C missense 0.00015666●●●●●●
75. 61574704 c.3898G>A p.E1300K missense 0.00015473●●●●●●
76. 61574674 c.3868C>T p.R1290W missense 0.00014771●●●●●●
77. 61574608 c.3802G>A p.A1268T missense 0.00014234●●●●●●
78. 61574663 c.3857G>A p.R1286H missense 0.00014094●●●●●●
79. 61566335 c.2483T>C p.M828T missense 0.00014021●●●●●●
80. 61560500 c.1453C>G p.P485A missense 0.00014014●●●●●●
81. 61566425 c.2573G>A p.R858Q missense 0.00013248●●●●●●
82. 61573751 c.3381-4C>T splice site 0.00013202●●●●●●
83. 61566035 c.2332C>T p.R778W missense 0.00013180●●●●●●
84. 61568742 c.2912G>A p.R971Q missense 0.00012399●●●●●●
85. 61554595 c.140A>G p.Q47R missense 0.00012390●●●●●●
86. 61562594 c.1922-3C>T splice site 0.00011628●●●●●●
87. 61554637 c.182T>A p.L61Q missense 0.00011197●●●●●●
88. 61574603 c.3797G>A p.G1266D missense 0.00010416●●●●●●
89. 61571728 c.3282-5G>A splice site 0.00010415●●●●●●
90. 61555463 c.417+4G>A splice site 0.00010015●●●●●●
91. 61554709 c.249+5G>T splice site 0.00009944●●●●●●
92. 61568634 c.2804C>T p.P935L missense 0.00009893●●●●●●
93. 61566144 c.2441G>A p.R814Q missense 0.00009887●●●●●●
94. 61560842 c.1509_1511delTCC p.Pro505del inframe 0.00009887●●●●●●
95. 61574501 c.3695G>A p.R1232H missense 0.00009584●●●●●●
96. 61555310 c.268A>G p.S90G missense 0.00009265●●●●●●
97. 61561896 c.1915G>A p.G639S missense 0.00009260●●●●●●
98. 61561893 c.1912G>A p.E638K missense 0.00009162●●●●●●
99. 61554704 c.249G>C p.Q83H missense 0.00009161●●●●●●
100. 61554535 c.80C>T p.A27V missense 0.00009066●●●●●●
101. 61556397 c.447G>C p.R149S missense 0.00008827●●●●●●
102. 61571017 c.3133G>A p.D1045N missense 0.00008595●●●●●●
103. 61557202 c.584C>T p.A195V missense 0.00008308●●●●●●
104. 61560026 c.1318C>G p.L440V missense 0.00008293●●●●●●
105. 61562724 c.2049C>A p.S683R missense 0.00008285●●●●●●
106. 61555308 c.266T>A p.L89H missense 0.00008273●●●●●●
107. 61559066 c.1085C>G p.S362W missense 0.00008269●●●●●●
108. 61566111 c.2408C>T p.P803L missense 0.00008238●●●●●●
109. 61554562 c.107C>T p.P36L missense 0.00007848●●●●●●
110. 61574533 c.3727G>A p.V1243I missense 0.00007839●●●●●●
111. 61560927 c.1586+8C>T splice site 0.00007736●●●●●●
112. 61574697 c.3891C>G p.F1297L missense 0.00007695●●●●●●
113. 61573871 c.3497G>A p.R1166H missense 0.00007464●●●●●●
114. 61573864 c.3490G>A p.G1164R missense 0.00007458●●●●●●
115. 61562707 c.2032A>G p.I678V missense 0.00007447●●●●●●
116. 61564048 c.2189C>A p.A730E missense 0.00007427●●●●●●
117. 61568381 c.2708C>T p.S903L missense 0.00007417●●●●●●
118. 61574352 c.3691+6G>A splice site 0.00007102●●●●●●
119. 61554579 c.124G>A p.D42N missense 0.00007016●●●●●●
120. 61555469 c.417+10G>A splice site 0.00006870●●●●●●
121. 61571758 c.3307C>A p.P1103T missense 0.00006729●●●●●●
122. 61574656 c.3850C>T p.R1284C missense 0.00006676●●●●●●
123. 61560008 c.1300C>G p.L434V missense 0.00006615●●●●●●
124. 61574345 c.3690C>T splice site 0.00006612●●●●●●
125. 61557715 c.673G>T p.A225S missense 0.00006611●●●●●●
126. 61564014 c.2155C>T p.R719W missense 0.00006602●●●●●●
127. 61559951 c.1243G>A p.G415S missense 0.00006597●●●●●●
128. 61566065 c.2362G>A p.E788K missense 0.00006590●●●●●●
129. 61571327 c.3181G>A p.A1061T missense 0.00006590●●●●●●
130. 61554588 c.133G>C p.G45R missense 0.00006542●●●●●●
131. 61554589 c.134G>A p.G45E missense 0.00006455●●●●●●
132. 61554666 c.211C>G p.H71D missense 0.00006158●●●●●●
133. 61554666 c.211C>T p.H71Y missense 0.00006158●●●●●●
134. 61554610 c.155G>A p.S52N missense 0.00005889●●●●●●
135. 61558493 c.889G>A p.V297M missense 0.00005787●●●●●●
136. 61560507 c.1460G>A p.R487H missense 0.00005773●●●●●●
137. 61570921 c.3037G>A p.G1013S missense 0.00005772●●●●●●
138. 61554644 c.189G>C p.Q63H missense 0.00005739●●●●●●
139. 61554645 c.190A>G p.S64G missense 0.00005710●●●●●●
140. 61554646 c.191G>A p.S64N missense 0.00005708●●●●●●
141. 61574320 c.3665C>T p.P1222L missense 0.00005585●●●●●●
142. 61574642 c.3836G>C p.R1279P missense 0.00005446●●●●●●
143. 61561316 c.1693G>A p.A565T missense 0.00005246●●●●●●
144. 61555451 c.409C>G p.R137G missense 0.00005232●●●●●●
145. 61574335 c.3680C>T p.T1227M missense 0.00005146●●●●●●
146. 61559843 c.1135C>T p.R379W missense 0.00005009●●●●●●
147. 61563949 c.2090C>A p.T697N missense 0.00004978●●●●●●
148. 61557157 c.539G>A p.R180Q missense 0.00004974●●●●●●
149. 61558530 c.926C>G p.T309S missense 0.00004968●●●●●●
150. 61558518 c.914A>G p.N305S missense 0.00004964●●●●●●
151. 61566020 c.2317G>A p.V773M missense 0.00004943●●●●●●
152. 61561332 c.1709G>A p.R570Q missense 0.00004877●●●●●●
153. 61561719 c.1738C>A p.P580T missense 0.00004807●●●●●●
154. 61561870 c.1889C>T p.P630L missense 0.00004772●●●●●●
155. 61555403 c.361A>G p.I121V missense 0.00004500●●●●●●
156. 61555323 c.281C>T p.A94V missense 0.00004371●●●●●●
157. 61571019 c.3135C>T splice site 0.00004300●●●●●●
158. 61571017 c.3133G>C p.D1045H missense 0.00004298●●●●●●
159. 61571818 c.3367G>A p.V1123M missense 0.00004296●●●●●●
160. 61559827 c.1119G>T p.R373S missense 0.00004271●●●●●●
161. 61557231 c.613G>A p.E205K missense 0.00004234●●●●●●
162. 61574235 c.3580G>A p.A1194T missense 0.00004229●●●●●●
163. 61574194 c.3539C>T p.P1180L missense 0.00004222●●●●●●
164. 61558952 c.971G>A p.R324Q missense 0.00004209●●●●●●
165. 61557272 c.654C>T p.D218D splice site 0.00004193●●●●●●
166. 61557214 c.596C>T p.P199L missense 0.00004175●●●●●●
167. 61559844 c.1136G>A p.R379Q missense 0.00004170●●●●●●
168. 61564417 c.2288G>A p.C763Y missense 0.00004161●●●●●●
169. 61561278 c.1655G>A p.G552D missense 0.00004137●●●●●●
170. 61566418 c.2566G>A p.V856M missense 0.00004137●●●●●●
171. 61559062 c.1081G>A p.A361T missense 0.00004135●●●●●●
172. 61561858 c.1877A>C p.Y626S missense 0.00004128●●●●●●
173. 61559975 c.1267G>A p.V423M missense 0.00004126●●●●●●
174. 61573777 c.3403C>A p.Q1135K missense 0.00004124●●●●●●
175. 61566320 c.2468A>T p.D823V missense 0.00004123●●●●●●
176. 61560891 c.1558C>A p.H520N missense 0.00004121●●●●●●
177. 61568322 c.2649G>A p.M883I missense 0.00004121●●●●●●
178. 61560492 c.1445G>C p.R482P missense 0.00004120●●●●●●
179. 61571379 c.3233A>G p.D1078G missense 0.00004120●●●●●●
180. 61566096 c.2393_2395delTCC p.Leu799del inframe 0.00004119●●●●●●
181. 61566128 c.2425A>G p.I809V missense 0.00004119●●●●●●
182. 61555295 c.253G>A p.E85K missense 0.00004091●●●●●●
183. 61561335 c.1709+3G>A splice site 0.00003923●●●●●●
184. 61561873 c.1892C>T p.P631L missense 0.00003820●●●●●●
185. 61555425 c.383G>C p.G128A missense 0.00003785●●●●●●
186. 61561768 c.1787C>T p.A596V missense 0.00003689●●●●●●
187. 61556428 c.478A>C p.N160H missense 0.00003584●●●●●●
188. 61574290 c.3635A>C p.N1212T missense 0.00003501●●●●●●
189. 61574491 c.3692-7C>T splice site 0.00003488●●●●●●
190. 61574281 c.3626G>A p.R1209H missense 0.00003466●●●●●●
191. 61555415 c.373C>T p.R125C missense 0.00003425●●●●●●
192. 61558936 c.955G>A p.A319T missense 0.00003416●●●●●●
193. 61574239 c.3584C>T p.S1195L missense 0.00003388●●●●●●
194. 61574617 c.3811G>A p.V1271I missense 0.00003357●●●●●●
195. 61560049 c.1341G>A splice site 0.00003338●●●●●●
196. 61560048 c.1340C>T p.T447M missense 0.00003334●●●●●●
197. 61566436 c.2584C>T p.R862C missense 0.00003318●●●●●●
198. 61559002 c.1021G>A p.E341K missense 0.00003317●●●●●●
199. 61558536 c.932C>G p.T311S missense 0.00003314●●●●●●
200. 61559991 c.1283T>G p.V428G missense 0.00003304●●●●●●
201. 61566370 c.2518C>T p.R840W missense 0.00003303●●●●●●
202. 61564045 c.2186G>A p.R729Q missense 0.00003301●●●●●●
203. 61573762 c.3388G>A p.V1130I missense 0.00003299●●●●●●
204. 61559933 c.1225C>T p.R409C missense 0.00003298●●●●●●
205. 61559934 c.1226G>A p.R409H missense 0.00003298●●●●●●
206. 61568323 c.2650T>C p.W884R missense 0.00003297●●●●●●
207. 61566156 c.2449+4A>T splice site 0.00003296●●●●●●
208. 61560855 c.1522C>T p.R508X nonsense 0.00003296●●●●●●
209. 61557820 c.778C>T p.R260C missense 0.00003296●●●●●●
210. 61566009 c.2306A>G p.D769G missense 0.00003296●●●●●●
211. 61560492 c.1445G>A p.R482H missense 0.00003296●●●●●●
212. 61566011 c.2308C>G p.L770V missense 0.00003295●●●●●●
213. 61571351 c.3205G>A p.V1069I missense 0.00003295●●●●●●
214. 61560471 c.1424G>A p.R475H missense 0.00003295●●●●●●
215. 61566029 c.2326A>G p.T776A missense 0.00003295●●●●●●
216. 61571354 c.3208G>A p.D1070N missense 0.00003295●●●●●●
217. 61561897 c.1916G>T p.G639V missense 0.00003105●●●●●●
218. 61561891 c.1910C>T p.P637L missense 0.00003012●●●●●●
219. 61555400 c.358A>T p.I120F missense 0.00002927●●●●●●
220. 61561833 c.1852G>A p.G618S missense 0.00002861●●●●●●
221. 61555457 c.415C>G p.Q139E missense 0.00002836●●●●●●
222. 61557258 c.640G>A p.A214T missense 0.00002801●●●●●●
223. 61561774 c.1793C>T p.P598L missense 0.00002756●●●●●●
224. 61555454 c.412C>T p.Q138X nonsense 0.00002734●●●●●●
225. 61557254 c.636T>A p.N212K missense 0.00002730●●●●●●
226. 61555452 c.410G>A p.R137Q missense 0.00002718●●●●●●
227. 61571727 c.3282-6C>T splice site 0.00002619●●●●●●
228. 61561311 c.1688C>T p.T563I missense 0.00002576●●●●●●
229. 61574263 c.3608C>T p.P1203L missense 0.00002561●●●●●●
230. 61574188 c.3533C>T p.P1178L missense 0.00002535●●●●●●
231. 61566457 c.2605A>G p.I869V missense 0.00002500●●●●●●
232. 61557208 c.590G>A p.G197D missense 0.00002495●●●●●●
233. 61557690 c.656-8G>A splice site 0.00002493●●●●●●
234. 61557201 c.583G>A p.A195T missense 0.00002492●●●●●●
235. 61566437 c.2585G>A p.R862H missense 0.00002489●●●●●●
236. 61558538 c.934A>G p.M312V missense 0.00002486●●●●●●
237. 61559018 c.1037C>T p.S346L missense 0.00002485●●●●●●
238. 61559084 c.1103A>G p.N368S missense 0.00002483●●●●●●
239. 61558524 c.920A>G p.D307G missense 0.00002483●●●●●●
240. 61559044 c.1063C>T p.R355W missense 0.00002481●●●●●●
241. 61559053 c.1072G>A p.V358M missense 0.00002480●●●●●●
242. 61560535 c.1487+1G>A essential splice site 0.00002480●●●●●●
243. 61570967 c.3083C>T p.T1028M missense 0.00002480●●●●●●
244. 61564358 c.2229delC p.Leu744CysfsTer27 frameshift 0.00002480●●●●●●
245. 61568741 c.2911C>T p.R971W missense 0.00002479●●●●●●
246. 61573820 c.3446C>T p.T1149M missense 0.00002477●●●●●●
247. 61559982 c.1274C>T p.A425V missense 0.00002477●●●●●●
248. 61564044 c.2185C>T p.R729W missense 0.00002476●●●●●●
249. 61560913 c.1580A>G p.Y527C missense 0.00002476●●●●●●
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505. 61560015 c.1307A>G p.K436R missense 0.00000828●●●●●●
506. 61566422 c.2570G>T p.R857L missense 0.00000828●●●●●●
507. 61566424 c.2572C>T p.R858W missense 0.00000828●●●●●●
508. 61562718 c.2043G>C p.E681D missense 0.00000828●●●●●●
509. 61558533 c.929G>A p.S310N missense 0.00000828●●●●●●
510. 61557700 c.658T>C p.F220L missense 0.00000828●●●●●●
511. 61562720 c.2045C>A p.T682N missense 0.00000828●●●●●●
512. 61559024 c.1043T>C p.L348P missense 0.00000828●●●●●●
513. 61558457 c.853_854delAT p.Met285ValfsTer106 frameshift 0.00000827●●●●●●
514. 61563970 c.2111C>T p.A704V missense 0.00000827●●●●●●
515. 61557710 c.668C>T p.T223M missense 0.00000827●●●●●●
516. 61562687 c.2012A>C p.N671T missense 0.00000827●●●●●●
517. 61562647 c.1972C>T p.R658W missense 0.00000827●●●●●●
518. 61558499 c.895C>A p.P299T missense 0.00000827●●●●●●
519. 61568746 c.2912+4C>T splice site 0.00000827●●●●●●
520. 61559050 c.1069_1071delGTG p.Val357del inframe 0.00000827●●●●●●
521. 61558470 c.866G>A p.S289N missense 0.00000827●●●●●●
522. 61566377 c.2525T>C p.F842S missense 0.00000827●●●●●●
523. 61558518 c.914A>T p.N305I missense 0.00000827●●●●●●
524. 61573840 c.3466G>A p.D1156N missense 0.00000827●●●●●●
525. 61566409 c.2557C>T p.H853Y missense 0.00000827●●●●●●
526. 61558476 c.872A>C p.E291A missense 0.00000827●●●●●●
527. 61563968 c.2109G>C p.Q703H missense 0.00000827●●●●●●
528. 61559059 c.1078C>T p.H360Y missense 0.00000827●●●●●●
529. 61564352 c.2223C>A p.N741K missense 0.00000827●●●●●●
530. 61560006 c.1298A>G p.H433R missense 0.00000827●●●●●●
531. 61558496 c.892G>T p.V298L missense 0.00000827●●●●●●
532. 61562694 c.2019C>G p.N673K missense 0.00000827●●●●●●
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537. 61559883 c.1175T>C p.M392T missense 0.00000826●●●●●●
538. 61570954 c.3070C>T p.L1024F missense 0.00000826●●●●●●
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542. 61563976 c.2117A>G p.K706R missense 0.00000826●●●●●●
543. 61571428 c.3281+1G>T essential splice site 0.00000826●●●●●●
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545. 61560534 c.1487G>A p.R496Q missense 0.00000826●●●●●●
546. 61571426 c.3280A>G p.R1094G missense 0.00000826●●●●●●
547. 61559889 c.1181A>G p.H394R missense 0.00000826●●●●●●
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549. 61560527 c.1480T>G p.Y494D missense 0.00000826●●●●●●
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555. 61570873 c.2989A>G p.M997V missense 0.00000825●●●●●●
556. 61564025 c.2166G>C p.K722N missense 0.00000825●●●●●●
557. 61566344 c.2492C>T p.T831I missense 0.00000825●●●●●●
558. 61560909 c.1576C>G p.P526A missense 0.00000825●●●●●●
559. 61568687 c.2857_2858insG p.Glu954GlyfsTer63 frameshift 0.00000825●●●●●●
560. 61568681 c.2851G>T p.D951Y missense 0.00000825●●●●●●
561. 61568700 c.2870G>C p.C957S missense 0.00000825●●●●●●
562. 61568580 c.2750C>G p.P917R missense 0.00000825●●●●●●
563. 61561251 c.1628C>T p.A543V missense 0.00000825●●●●●●
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565. 61559894 c.1186C>T p.Q396X nonsense 0.00000825●●●●●●
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568. 61566340 c.2488G>A p.E830K missense 0.00000825●●●●●●
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570. 61557757 c.715G>A p.D239N missense 0.00000825●●●●●●
571. 61566350 c.2498_2499insCCTGGAGCAAGA p.Ser833_Leu834insLeuGluGlnAsp inframe 0.00000825●●●●●●
572. 61564032 c.2173C>G p.Q725E missense 0.00000825●●●●●●
573. 61566347 c.2495C>T p.P832L missense 0.00000825●●●●●●
574. 61557742 c.700C>T p.P234S missense 0.00000825●●●●●●
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577. 61559907 c.1199A>G p.Q400R missense 0.00000825●●●●●●
578. 61568589 c.2759T>C p.M920T missense 0.00000825●●●●●●
579. 61573778 c.3404A>G p.Q1135R missense 0.00000825●●●●●●
580. 61568410 c.2737C>G p.Q913E missense 0.00000825●●●●●●
581. 61564010 c.2151C>G p.I717M missense 0.00000825●●●●●●
582. 61561250 c.1627G>T p.A543S missense 0.00000825●●●●●●
583. 61566323 c.2471C>T p.S824L missense 0.00000825●●●●●●
584. 61570861 c.2977A>G p.I993V missense 0.00000825●●●●●●
585. 61568675 c.2845C>T p.P949S missense 0.00000825●●●●●●
586. 61568576 c.2746A>G p.T916A missense 0.00000825●●●●●●
587. 61561233 c.1610A>G p.Q537R missense 0.00000825●●●●●●
588. 61573760 c.3386_3388delTTG p.Val1130del inframe 0.00000825●●●●●●
589. 61570928 c.3044A>G p.H1015R missense 0.00000825●●●●●●
590. 61568706 c.2876C>A p.A959D missense 0.00000825●●●●●●
591. 61573804 c.3430C>G p.Q1144E missense 0.00000825●●●●●●
592. 61564020 c.2161A>G p.I721V missense 0.00000825●●●●●●
593. 61560514 c.1467C>G p.N489K missense 0.00000825●●●●●●
594. 61570867 c.2983T>C p.Y995H missense 0.00000825●●●●●●
595. 61566323 c.2471C>G p.S824W missense 0.00000825●●●●●●
596. 61560906 c.1573A>G p.T525A missense 0.00000825●●●●●●
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599. 61568594 c.2764A>G p.K922E missense 0.00000825●●●●●●
600. 61568579 c.2749C>G p.P917A missense 0.00000825●●●●●●
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604. 61559893 c.1185A>G p.I395M missense 0.00000825●●●●●●
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662. 61568645 c.2815G>C p.E939Q missense 0.00000824●●●●●●
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684. 61560844 c.1511C>G p.P504R missense 0.00000824●●●●●●
685. 61566314 c.2462C>T p.A821V 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.