NOS3 missense variants in ExAC

NOS3 gene summary
NOS3 variants in

The table below lists the NOS3 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. 150696111 c.894T>G p.D298E missense 0.75301506●●●●●●
2. 150693556 c.335G>A p.R112Q missense 0.01060732●●●●●●
3. 150706640 c.2479G>A p.V827M missense 0.00491772●●●●●●
4. 150698349 c.1264G>A p.A422T missense 0.00388059●●●●●●
5. 150707344 c.2654G>T p.R885M missense 0.00365160●●●●●●
6. 150696076 c.859G>A p.D287N missense 0.00198339●●●●●●
7. 150693604 c.383G>A p.R128Q missense 0.00187284●●●●●●
8. 150704246 c.1994G>A p.R665H missense 0.00164286●●●●●●
9. 150708035 c.2945A>T p.Q982L missense 0.00121999●●●●●●
10. 150709453 c.2999G>A p.R1000Q missense 0.00097656●●●●●●
11. 150706321 c.2290C>T p.R764C missense 0.00071484●●●●●●
12. 150706545 c.2384C>T p.P795L missense 0.00069050●●●●●●
13. 150693567 c.346G>A p.G116S missense 0.00067019●●●●●●
14. 150698352 c.1267G>A p.A423T missense 0.00060396●●●●●●
15. 150704038 c.1882C>T p.R628W missense 0.00060154●●●●●●
16. 150710959 c.3403G>A p.G1135S missense 0.00056855●●●●●●
17. 150706618 c.2457C>G p.D819E missense 0.00042045●●●●●●
18. 150693951 c.520G>A p.A174T missense 0.00029560●●●●●●
19. 150709452 c.2998C>T p.R1000W missense 0.00028210●●●●●●
20. 150693897 c.466G>A p.E156K missense 0.00027608●●●●●●
21. 150690922 c.31C>A p.P11T missense 0.00027216●●●●●●
22. 150693603 c.382C>T p.R128W missense 0.00026512●●●●●●
23. 150707251 c.2561C>T p.T854M missense 0.00025275●●●●●●
24. 150707257 c.2567G>A p.R856H missense 0.00024298●●●●●●
25. 150706596 c.2435C>T p.A812V missense 0.00023537●●●●●●
26. 150693556 c.335G>C p.R112P missense 0.00023399●●●●●●
27. 150699334 c.1694C>T p.T565M missense 0.00021669●●●●●●
28. 150704039 c.1883G>A p.R628Q missense 0.00020601●●●●●●
29. 150691010 c.119G>A p.R40Q missense 0.00020209●●●●●●
30. 150697616 c.1162C>T p.R388W missense 0.00019143●●●●●●
31. 150693540 c.319C>T p.R107W missense 0.00018618●●●●●●
32. 150706517 c.2356G>A p.G786R missense 0.00017379●●●●●●
33. 150695715 c.763C>T p.R255W missense 0.00016284●●●●●●
34. 150693598 c.377A>T p.Q126L missense 0.00016149●●●●●●
35. 150706532 c.2371C>A p.L791M missense 0.00015763●●●●●●
36. 150696067 c.850G>A p.G284S missense 0.00015169●●●●●●
37. 150697652 c.1198G>A p.V400M missense 0.00012528●●●●●●
38. 150707332 c.2642C>T p.A881V missense 0.00011732●●●●●●
39. 150698654 c.1451C>T p.A484V missense 0.00011611●●●●●●
40. 150693933 c.502A>G p.S168G missense 0.00011265●●●●●●
41. 150711204 c.3559G>T p.G1187C missense 0.00011185●●●●●●
42. 150707692 c.2693G>A p.R898Q missense 0.00010851●●●●●●
43. 150698995 c.1589G>A p.R530Q missense 0.00010848●●●●●●
44. 150698506 c.1421G>A p.R474H missense 0.00010528●●●●●●
45. 150706502 c.2341G>C p.V781L missense 0.00010142●●●●●●
46. 150706112 c.2207G>A p.R736Q missense 0.00009683●●●●●●
47. 150706088 c.2183G>A p.R728Q missense 0.00009045●●●●●●
48. 150706632 c.2471C>T p.T824I missense 0.00008941●●●●●●
49. 150706628 c.2467C>T p.P823S missense 0.00008818●●●●●●
50. 150706626 c.2465C>T p.A822V missense 0.00008667●●●●●●
51. 150711207 c.3562G>A p.A1188T missense 0.00008639●●●●●●
52. 150706604 c.2443A>G p.S815G missense 0.00007995●●●●●●
53. 150690986 c.95C>A p.A32D missense 0.00007915●●●●●●
54. 150698668 c.1465G>A p.G489S missense 0.00007466●●●●●●
55. 150698367 c.1282A>G p.M428V missense 0.00007443●●●●●●
56. 150693541 c.320G>A p.R107Q missense 0.00007364●●●●●●
57. 150696045 c.828G>C p.Q276H missense 0.00006804●●●●●●
58. 150710827 c.3271A>C p.I1091L missense 0.00006737●●●●●●
59. 150704339 c.2087G>A p.R696Q missense 0.00006282●●●●●●
60. 150692333 c.201G>C p.K67N missense 0.00005925●●●●●●
61. 150693984 c.553G>A p.V185M missense 0.00005818●●●●●●
62. 150707889 c.2890A>C p.T964P missense 0.00005797●●●●●●
63. 150693502 c.281G>C p.C94S missense 0.00005595●●●●●●
64. 150693972 c.541G>A p.A181T missense 0.00005215●●●●●●
65. 150692296 c.164C>T p.P55L missense 0.00005145●●●●●●
66. 150707695 c.2696G>A p.R899H missense 0.00005135●●●●●●
67. 150696369 c.1048G>A p.A350T missense 0.00005056●●●●●●
68. 150699033 c.1627C>T p.R543W missense 0.00005042●●●●●●
69. 150696079 c.862G>A p.V288M missense 0.00005039●●●●●●
70. 150696139 c.922G>A p.E308K missense 0.00005030●●●●●●
71. 150698997 c.1591G>A p.A531T missense 0.00005008●●●●●●
72. 150706302 c.2271G>T p.K757N missense 0.00004975●●●●●●
73. 150703566 c.1804C>T p.R602W missense 0.00004966●●●●●●
74. 150698399 c.1314G>C p.R438S missense 0.00004965●●●●●●
75. 150698504 c.1419C>G p.F473L missense 0.00004380●●●●●●
76. 150693531 c.310G>A p.V104I missense 0.00004248●●●●●●
77. 150692359 c.227T>C p.V76A missense 0.00004239●●●●●●
78. 150711180 c.3535T>C p.S1179P missense 0.00004237●●●●●●
79. 150710975 c.3419A>T p.D1140V missense 0.00004197●●●●●●
80. 150707260 c.2570A>G p.Q857R missense 0.00004180●●●●●●
81. 150707314 c.2624G>A p.R875Q missense 0.00004174●●●●●●
82. 150703567 c.1805G>A p.R602Q missense 0.00004139●●●●●●
83. 150695665 c.713G>A p.R238Q missense 0.00004004●●●●●●
84. 150707895 c.2896G>A p.D966N missense 0.00003898●●●●●●
85. 150691037 c.146C>T p.A49V missense 0.00003893●●●●●●
86. 150706118 c.2213G>A p.S738N missense 0.00003833●●●●●●
87. 150693855 c.424G>A p.G142S missense 0.00003820●●●●●●
88. 150690929 c.38C>T p.P13L missense 0.00003813●●●●●●
89. 150711244 c.3599C>T p.T1200I missense 0.00003747●●●●●●
90. 150691033 c.142C>T p.P48S missense 0.00003713●●●●●●
91. 150696436 c.1115G>A p.R372H missense 0.00003556●●●●●●
92. 150696408 c.1087G>A p.G363S missense 0.00003465●●●●●●
93. 150697687 c.1233G>C p.Q411H missense 0.00003449●●●●●●
94. 150692292 c.160C>A p.P54T missense 0.00003441●●●●●●
95. 150696315 c.994G>A p.A332T missense 0.00003369●●●●●●
96. 150707256 c.2566C>G p.R856G missense 0.00003354●●●●●●
97. 150696145 c.928G>A p.V310I missense 0.00003354●●●●●●
98. 150695728 c.776G>A p.G259D missense 0.00003344●●●●●●
99. 150690980 c.89G>A p.G30D missense 0.00003335●●●●●●
100. 150698656 c.1453G>A p.A485T missense 0.00003318●●●●●●
101. 150710412 c.3200G>C p.R1067P missense 0.00003308●●●●●●
102. 150703545 c.1783G>A p.G595S missense 0.00003307●●●●●●
103. 150693991 c.560G>A p.R187Q missense 0.00003196●●●●●●
104. 150709464 c.3010G>A p.D1004N missense 0.00003097●●●●●●
105. 150709549 c.3095T>G p.I1032S missense 0.00003084●●●●●●
106. 150695715 c.763C>G p.R255G missense 0.00003053●●●●●●
107. 150695652 c.700C>T p.R234C missense 0.00002958●●●●●●
108. 150693936 c.505G>A p.E169K missense 0.00002947●●●●●●
109. 150693985 c.554T>C p.V185A missense 0.00002935●●●●●●
110. 150690970 c.79G>A p.G27S missense 0.00002926●●●●●●
111. 150693607 c.386A>G p.D129G missense 0.00002883●●●●●●
112. 150691009 c.118C>T p.R40W missense 0.00002867●●●●●●
113. 150690926 c.35G>A p.G12E missense 0.00002817●●●●●●
114. 150707755 c.2756C>A p.P919Q missense 0.00002802●●●●●●
115. 150707755 c.2756C>T p.P919L missense 0.00002802●●●●●●
116. 150693555 c.334C>T p.R112W missense 0.00002779●●●●●●
117. 150690910 c.19G>A p.V7M missense 0.00002727●●●●●●
118. 150693978 c.547C>T p.R183C missense 0.00002722●●●●●●
119. 150707692 c.2693G>C p.R898P missense 0.00002713●●●●●●
120. 150711234 c.3589G>A p.G1197S missense 0.00002706●●●●●●
121. 150693928 c.497G>A p.R166K missense 0.00002660●●●●●●
122. 150709471 c.3017G>C p.S1006T missense 0.00002657●●●●●●
123. 150707764 c.2765C>T p.A922V missense 0.00002630●●●●●●
124. 150698505 c.1420C>T p.R474C missense 0.00002630●●●●●●
125. 150710945 c.3389T>C p.I1130T missense 0.00002608●●●●●●
126. 150707245 c.2555C>T p.P852L missense 0.00002547●●●●●●
127. 150696049 c.832G>A p.G278S missense 0.00002546●●●●●●
128. 150707253 c.2563C>G p.L855V missense 0.00002521●●●●●●
129. 150707340 c.2650C>G p.P884A missense 0.00002518●●●●●●
130. 150696109 c.892G>A p.D298N missense 0.00002512●●●●●●
131. 150698443 c.1358C>T p.S453L missense 0.00002507●●●●●●
132. 150698985 c.1579G>A p.E527K missense 0.00002501●●●●●●
133. 150697623 c.1169C>T p.T390I missense 0.00002497●●●●●●
134. 150698965 c.1559C>G p.A520G missense 0.00002495●●●●●●
135. 150703570 c.1808C>T p.P603L missense 0.00002484●●●●●●
136. 150698399 c.1314G>T p.R438S missense 0.00002483●●●●●●
137. 150698403 c.1318G>T p.G440C missense 0.00002482●●●●●●
138. 150698401 c.1316G>C p.G439A missense 0.00002482●●●●●●
139. 150693966 c.535C>T p.R179C missense 0.00002401●●●●●●
140. 150693559 c.338C>G p.P113R missense 0.00002388●●●●●●
141. 150695737 c.785G>A p.R262Q missense 0.00002291●●●●●●
142. 150699379 c.1739C>T p.P580L missense 0.00002290●●●●●●
143. 150706042 c.2137G>A p.G713R missense 0.00002245●●●●●●
144. 150695727 c.775G>A p.G259S missense 0.00002226●●●●●●
145. 150710886 c.3330C>G p.H1110Q missense 0.00002225●●●●●●
146. 150706049 c.2144A>T p.D715V missense 0.00002207●●●●●●
147. 150706064 c.2159C>T p.A720V missense 0.00002120●●●●●●
148. 150693565 c.344C>T p.P115L missense 0.00002063●●●●●●
149. 150693883 c.452A>G p.Q151R missense 0.00002037●●●●●●
150. 150695716 c.764G>A p.R255Q missense 0.00002034●●●●●●
151. 150699321 c.1681C>T p.L561F missense 0.00002004●●●●●●
152. 150699324 c.1684G>A p.E562K missense 0.00001984●●●●●●
153. 150693876 c.445C>T p.R149W missense 0.00001984●●●●●●
154. 150695653 c.701G>A p.R234H missense 0.00001979●●●●●●
155. 150690937 c.46G>A p.G16S missense 0.00001969●●●●●●
156. 150707886 c.2887A>G p.R963G missense 0.00001929●●●●●●
157. 150693606 c.385G>A p.D129N missense 0.00001925●●●●●●
158. 150706118 c.2213G>C p.S738T missense 0.00001916●●●●●●
159. 150695454 c.592G>A p.A198T missense 0.00001897●●●●●●
160. 150707718 c.2719C>T p.R907C missense 0.00001893●●●●●●
161. 150690922 c.31C>T p.P11S missense 0.00001877●●●●●●
162. 150695458 c.596G>A p.R199Q missense 0.00001866●●●●●●
163. 150707719 c.2720G>A p.R907H missense 0.00001866●●●●●●
164. 150707832 c.2833G>A p.A945T missense 0.00001856●●●●●●
165. 150707829 c.2830T>C p.S944P missense 0.00001855●●●●●●
166. 150693948 c.517G>T p.G173W missense 0.00001829●●●●●●
167. 150693948 c.517G>A p.G173R missense 0.00001829●●●●●●
168. 150695463 c.601T>C p.C201R missense 0.00001828●●●●●●
169. 150693947 c.516C>A p.F172L missense 0.00001822●●●●●●
170. 150695536 c.674G>A p.R225H missense 0.00001791●●●●●●
171. 150695535 c.673C>T p.R225C missense 0.00001790●●●●●●
172. 150707211 c.2521C>G p.P841A missense 0.00001784●●●●●●
173. 150711228 c.3583C>T p.P1195S missense 0.00001783●●●●●●
174. 150695530 c.668A>G p.N223S missense 0.00001783●●●●●●
175. 150695531 c.669C>A p.N223K missense 0.00001782●●●●●●
176. 150695524 c.662G>A p.R221Q missense 0.00001774●●●●●●
177. 150695483 c.621G>C p.M207I missense 0.00001768●●●●●●
178. 150711211 c.3566T>G p.V1189G missense 0.00001733●●●●●●
179. 150706352 c.2321C>T p.S774F missense 0.00001728●●●●●●
180. 150707235 c.2545C>T p.R849W missense 0.00001726●●●●●●
181. 150708046 c.2956G>A p.G986R missense 0.00001722●●●●●●
182. 150692292 c.160C>T p.P54S missense 0.00001720●●●●●●
183. 150711201 c.3556C>T p.R1186W missense 0.00001718●●●●●●
184. 150711189 c.3544G>A p.E1182K missense 0.00001702●●●●●●
185. 150707361 c.2671G>C p.E891Q missense 0.00001701●●●●●●
186. 150699051 c.1645C>T p.R549W missense 0.00001695●●●●●●
187. 150711176 c.3531C>G p.S1177R missense 0.00001694●●●●●●
188. 150692326 c.194G>T p.G65V missense 0.00001694●●●●●●
189. 150692341 c.209G>A p.R70H missense 0.00001692●●●●●●
190. 150699039 c.1633G>T p.A545S missense 0.00001684●●●●●●
191. 150696071 c.854G>A p.R285H missense 0.00001683●●●●●●
192. 150696173 c.956C>T p.T319M missense 0.00001680●●●●●●
193. 150710461 c.3249C>G p.N1083K missense 0.00001680●●●●●●
194. 150699030 c.1624T>C p.F542L missense 0.00001679●●●●●●
195. 150704284 c.2032C>T p.R678W missense 0.00001678●●●●●●
196. 150696148 c.931C>T p.L311F missense 0.00001677●●●●●●
197. 150696107 c.890A>T p.D297V missense 0.00001675●●●●●●
198. 150696127 c.910C>T p.L304F missense 0.00001674●●●●●●
199. 150698948 c.1542G>A p.M514I missense 0.00001662●●●●●●
200. 150698695 c.1492G>A p.E498K missense 0.00001661●●●●●●
201. 150698430 c.1345G>A p.V449M missense 0.00001661●●●●●●
202. 150698913 c.1507G>A p.V503M missense 0.00001660●●●●●●
203. 150710414 c.3202G>C p.G1068R missense 0.00001655●●●●●●
204. 150698348 c.1263C>G p.H421Q missense 0.00001655●●●●●●
205. 150698356 c.1271C>T p.T424M missense 0.00001654●●●●●●
206. 150698381 c.1296G>T p.E432D missense 0.00001654●●●●●●
207. 150703516 c.1754G>T p.S585I missense 0.00001653●●●●●●
208. 150703521 c.1759G>A p.A587T missense 0.00001653●●●●●●
209. 150704216 c.1964G>A p.R655Q missense 0.00001650●●●●●●
210. 150704036 c.1880G>A p.R627Q missense 0.00001648●●●●●●
211. 150693574 c.353C>T p.P118L missense 0.00001495●●●●●●
212. 150690971 c.80G>A p.G27D missense 0.00001482●●●●●●
213. 150693934 c.503G>A p.S168N missense 0.00001449●●●●●●
214. 150707752 c.2753T>G p.F918C missense 0.00001424●●●●●●
215. 150710824 c.3268G>A p.D1090N missense 0.00001410●●●●●●
216. 150710974 c.3418G>C p.D1140H missense 0.00001401●●●●●●
217. 150710941 c.3385C>T p.R1129C missense 0.00001306●●●●●●
218. 150710933 c.3377C>G p.T1126S missense 0.00001271●●●●●●
219. 150710932 c.3376A>G p.T1126A missense 0.00001263●●●●●●
220. 150695763 c.811A>G p.T271A missense 0.00001244●●●●●●
221. 150710924 c.3368T>C p.V1123A missense 0.00001227●●●●●●
222. 150710837 c.3281C>T p.T1094M missense 0.00001226●●●●●●
223. 150695754 c.802G>A p.V268M missense 0.00001202●●●●●●
224. 150710915 c.3359C>T p.A1120V missense 0.00001201●●●●●●
225. 150709519 c.3065G>C p.R1022P missense 0.00001178●●●●●●
226. 150709519 c.3065G>A p.R1022Q missense 0.00001178●●●●●●
227. 150710848 c.3292G>C p.A1098P missense 0.00001143●●●●●●
228. 150710848 c.3292G>A p.A1098T missense 0.00001143●●●●●●
229. 150706039 c.2134G>A p.V712M missense 0.00001131●●●●●●
230. 150710851 c.3295G>C p.E1099Q missense 0.00001126●●●●●●
231. 150695731 c.779C>G p.S260C missense 0.00001122●●●●●●
232. 150693587 c.366G>C p.Q122H missense 0.00001116●●●●●●
233. 150710887 c.3331A>G p.M1111V missense 0.00001114●●●●●●
234. 150706048 c.2143G>A p.D715N missense 0.00001106●●●●●●
235. 150710878 c.3322C>T p.R1108W missense 0.00001106●●●●●●
236. 150710877 c.3321G>T p.E1107D missense 0.00001102●●●●●●
237. 150710863 c.3307G>C p.V1103L missense 0.00001094●●●●●●
238. 150706054 c.2149A>G p.K717E missense 0.00001089●●●●●●
239. 150707788 c.2789C>A p.T930N missense 0.00001088●●●●●●
240. 150706060 c.2155G>A p.A719T missense 0.00001078●●●●●●
241. 150693907 c.476C>A p.A159D missense 0.00001068●●●●●●
242. 150693897 c.466G>C p.E156Q missense 0.00001062●●●●●●
243. 150693592 c.371T>C p.L124P missense 0.00001053●●●●●●
244. 150693595 c.374G>T p.S125I missense 0.00001034●●●●●●
245. 150706075 c.2170T>C p.F724L missense 0.00001027●●●●●●
246. 150706079 c.2174G>A p.S725N missense 0.00001022●●●●●●
247. 150695721 c.769C>A p.Q257K missense 0.00001016●●●●●●
248. 150695689 c.737G>A p.S246N missense 0.00001014●●●●●●
249. 150695445 c.583G>A p.V195M missense 0.00001013●●●●●●
250. 150695693 c.741G>T p.Q247H missense 0.00001012●●●●●●
251. 150695677 c.725G>A p.R242Q missense 0.00001009●●●●●●
252. 150706085 c.2180A>G p.K727R missense 0.00001007●●●●●●
253. 150695670 c.718G>A p.D240N missense 0.00001001●●●●●●
254. 150693877 c.446G>A p.R149Q missense 0.00000998●●●●●●
255. 150695659 c.707C>T p.P236L missense 0.00000993●●●●●●
256. 150690935 c.44G>A p.C15Y missense 0.00000983●●●●●●
257. 150706102 c.2197C>G p.Q733E missense 0.00000982●●●●●●
258. 150693604 c.383G>C p.R128P missense 0.00000975●●●●●●
259. 150695450 c.588C>A p.F196L missense 0.00000973●●●●●●
260. 150693869 c.438C>G p.H146Q missense 0.00000970●●●●●●
261. 150693870 c.439G>A p.E147K missense 0.00000969●●●●●●
262. 150690934 c.43T>C p.C15R missense 0.00000969●●●●●●
263. 150707890 c.2891C>G p.T964S missense 0.00000967●●●●●●
264. 150707812 c.2813G>A p.R938Q missense 0.00000956●●●●●●
265. 150707815 c.2816A>G p.Y939C missense 0.00000947●●●●●●
266. 150707868 c.2869G>A p.V957I missense 0.00000940●●●●●●
267. 150707821 c.2822C>T p.S941L missense 0.00000937●●●●●●
268. 150695457 c.595C>T p.R199W missense 0.00000936●●●●●●
269. 150693615 c.394A>T p.N132Y missense 0.00000936●●●●●●
270. 150707854 c.2855A>G p.E952G missense 0.00000925●●●●●●
271. 150707850 c.2851G>C p.G951R missense 0.00000924●●●●●●
272. 150695460 c.598G>C p.D200H missense 0.00000923●●●●●●
273. 150707844 c.2845C>T p.H949Y missense 0.00000922●●●●●●
274. 150711238 c.3593C>T p.S1198L missense 0.00000921●●●●●●
275. 150693633 c.412A>G p.I138V missense 0.00000917●●●●●●
276. 150695467 c.605G>A p.R202K missense 0.00000905●●●●●●
277. 150692398 c.266A>G p.Q89R missense 0.00000905●●●●●●
278. 150711235 c.3590G>A p.G1197D missense 0.00000904●●●●●●
279. 150695470 c.608C>A p.S203Y missense 0.00000899●●●●●●
280. 150711231 c.3586C>T p.P1196S missense 0.00000896●●●●●●
281. 150707211 c.2521C>T p.P841S missense 0.00000892●●●●●●
282. 150695531 c.669C>G p.N223K missense 0.00000891●●●●●●
283. 150707987 c.2897A>T p.D966V missense 0.00000890●●●●●●
284. 150695527 c.665G>A p.G222D missense 0.00000890●●●●●●
285. 150707217 c.2527G>C p.G843R missense 0.00000888●●●●●●
286. 150696435 c.1114C>T p.R372C missense 0.00000888●●●●●●
287. 150707212 c.2522C>T p.P841L missense 0.00000887●●●●●●
288. 150695483 c.621G>A p.M207I missense 0.00000884●●●●●●
289. 150695494 c.632T>G p.I211S missense 0.00000878●●●●●●
290. 150696412 c.1091C>T p.T364M missense 0.00000870●●●●●●
291. 150707227 c.2537G>A p.R846Q missense 0.00000869●●●●●●
292. 150692380 c.248C>T p.T83I missense 0.00000865●●●●●●
293. 150711207 c.3562G>T p.A1188S missense 0.00000864●●●●●●
294. 150708008 c.2918A>T p.Y973F missense 0.00000864●●●●●●
295. 150707233 c.2543C>G p.P848R missense 0.00000864●●●●●●
296. 150708058 c.2968C>T p.P990S missense 0.00000864●●●●●●
297. 150707236 c.2546G>A p.R849Q missense 0.00000863●●●●●●
298. 150711106 c.3461G>A p.R1154H missense 0.00000863●●●●●●
299. 150692379 c.247A>G p.T83A missense 0.00000863●●●●●●
300. 150708049 c.2959G>C p.D987H missense 0.00000861●●●●●●
301. 150692291 c.159C>G p.S53R missense 0.00000861●●●●●●
302. 150711205 c.3560G>A p.G1187D missense 0.00000861●●●●●●
303. 150708017 c.2927G>C p.C976S missense 0.00000861●●●●●●
304. 150708041 c.2951A>T p.K984M missense 0.00000860●●●●●●
305. 150704320 c.2068G>A p.G690S missense 0.00000860●●●●●●
306. 150711204 c.3559G>A p.G1187S missense 0.00000860●●●●●●
307. 150696394 c.1073T>C p.M358T missense 0.00000859●●●●●●
308. 150698484 c.1399T>A p.Y467N missense 0.00000857●●●●●●
309. 150711196 c.3551A>G p.Q1184R missense 0.00000855●●●●●●
310. 150711192 c.3547C>G p.R1183G missense 0.00000853●●●●●●
311. 150692304 c.172C>T p.P58S missense 0.00000853●●●●●●
312. 150692305 c.173C>T p.P58L missense 0.00000853●●●●●●
313. 150698478 c.1393G>C p.V465L missense 0.00000852●●●●●●
314. 150704308 c.2056G>A p.D686N missense 0.00000851●●●●●●
315. 150707362 c.2672A>C p.E891A missense 0.00000851●●●●●●
316. 150692315 c.183G>C p.Q61H missense 0.00000850●●●●●●
317. 150704306 c.2054G>A p.G685D missense 0.00000850●●●●●●
318. 150704305 c.2053G>A p.G685S missense 0.00000849●●●●●●
319. 150699052 c.1646G>A p.R549Q missense 0.00000849●●●●●●
320. 150692316 c.184C>T p.P62S missense 0.00000849●●●●●●
321. 150707245 c.2555C>G p.P852R missense 0.00000849●●●●●●
322. 150698471 c.1386G>C p.Q462H missense 0.00000848●●●●●●
323. 150711181 c.3536C>T p.S1179F missense 0.00000848●●●●●●
324. 150707359 c.2669T>C p.L890P missense 0.00000848●●●●●●
325. 150692343 c.211G>C p.V71L missense 0.00000847●●●●●●
326. 150692329 c.197C>G p.P66R missense 0.00000847●●●●●●
327. 150696055 c.838A>G p.T280A missense 0.00000847●●●●●●
328. 150711178 c.3533T>A p.F1178Y missense 0.00000847●●●●●●
329. 150692340 c.208C>T p.R70C missense 0.00000846●●●●●●
330. 150711154 c.3509C>G p.T1170R missense 0.00000846●●●●●●
331. 150711160 c.3515G>A p.R1172H missense 0.00000844●●●●●●
332. 150696306 c.985C>T p.R329C missense 0.00000844●●●●●●
333. 150704294 c.2042A>G p.Q681R missense 0.00000843●●●●●●
334. 150699040 c.1634C>T p.A545V missense 0.00000843●●●●●●
335. 150711159 c.3514C>T p.R1172C missense 0.00000843●●●●●●
336. 150696322 c.1001C>T p.P334L missense 0.00000842●●●●●●
337. 150696070 c.853C>T p.R285C missense 0.00000842●●●●●●
338. 150696313 c.992A>G p.Y331C missense 0.00000842●●●●●●
339. 150696334 c.1013A>G p.N338S missense 0.00000841●●●●●●
340. 150697664 c.1210G>A p.V404M missense 0.00000840●●●●●●
341. 150707338 c.2648A>G p.E883G missense 0.00000839●●●●●●
342. 150696155 c.938T>C p.V313A missense 0.00000839●●●●●●
343. 150704285 c.2033G>A p.R678Q missense 0.00000839●●●●●●
344. 150696103 c.886C>A p.P296T missense 0.00000838●●●●●●
345. 150696146 c.929T>C p.V310A missense 0.00000838●●●●●●
346. 150696133 c.916C>T p.P306S missense 0.00000838●●●●●●
347. 150696140 c.923A>T p.E308V missense 0.00000838●●●●●●
348. 150706336 c.2305C>G p.L769V missense 0.00000838●●●●●●
349. 150696098 c.881A>G p.Q294R missense 0.00000838●●●●●●
350. 150696110 c.893A>G p.D298G missense 0.00000837●●●●●●
351. 150699009 c.1603G>A p.A535T missense 0.00000836●●●●●●
352. 150699013 c.1607A>G p.Q536R missense 0.00000836●●●●●●
353. 150707314 c.2624G>T p.R875L missense 0.00000835●●●●●●
354. 150710448 c.3236G>A p.R1079Q missense 0.00000835●●●●●●
355. 150699004 c.1598G>A p.S533N missense 0.00000835●●●●●●
356. 150698980 c.1574G>A p.G525D missense 0.00000833●●●●●●
357. 150707271 c.2581T>C p.F861L missense 0.00000833●●●●●●
358. 150707287 c.2597C>T p.T866I missense 0.00000832●●●●●●
359. 150697626 c.1172C>T p.S391L missense 0.00000832●●●●●●
360. 150707289 c.2599T>A p.S867T missense 0.00000832●●●●●●
361. 150698964 c.1558G>A p.A520T missense 0.00000832●●●●●●
362. 150697617 c.1163G>A p.R388Q missense 0.00000832●●●●●●
363. 150707299 c.2609G>C p.S870T missense 0.00000832●●●●●●
364. 150707293 c.2603C>T p.P868L missense 0.00000832●●●●●●
365. 150707286 c.2596A>C p.T866P missense 0.00000832●●●●●●
366. 150698941 c.1535C>T p.T512M missense 0.00000831●●●●●●
367. 150698958 c.1552G>C p.V518L missense 0.00000831●●●●●●
368. 150710435 c.3223A>G p.T1075A missense 0.00000830●●●●●●
369. 150698687 c.1484C>T p.T495I missense 0.00000830●●●●●●
370. 150698923 c.1517C>T p.S506F missense 0.00000830●●●●●●
371. 150706295 c.2264G>A p.R755K missense 0.00000829●●●●●●
372. 150698656 c.1453G>C p.A485P missense 0.00000829●●●●●●
373. 150706288 c.2257G>C p.V753L missense 0.00000829●●●●●●
374. 150704261 c.2009G>A p.R670Q missense 0.00000829●●●●●●
375. 150698421 c.1336G>A p.A446T missense 0.00000829●●●●●●
376. 150706289 c.2258T>A p.V753E missense 0.00000829●●●●●●
377. 150698653 c.1450G>A p.A484T missense 0.00000829●●●●●●
378. 150706277 c.2246G>A p.G749D missense 0.00000829●●●●●●
379. 150704260 c.2008C>T p.R670W missense 0.00000829●●●●●●
380. 150703567 c.1805G>T p.R602L missense 0.00000828●●●●●●
381. 150698340 c.1255G>A p.D419N missense 0.00000828●●●●●●
382. 150703576 c.1814A>G p.Q605R missense 0.00000828●●●●●●
383. 150704251 c.1999G>A p.V667M missense 0.00000828●●●●●●
384. 150703578 c.1816C>T p.H606Y missense 0.00000828●●●●●●
385. 150710418 c.3206T>C p.V1069A missense 0.00000828●●●●●●
386. 150698359 c.1274C>T p.A425V missense 0.00000827●●●●●●
387. 150698372 c.1287G>T p.K429N missense 0.00000827●●●●●●
388. 150710412 c.3200G>T p.R1067L missense 0.00000827●●●●●●
389. 150710354 c.3142T>C p.C1048R missense 0.00000827●●●●●●
390. 150698367 c.1282A>T p.M428L missense 0.00000827●●●●●●
391. 150710399 c.3187A>C p.N1063H missense 0.00000827●●●●●●
392. 150698385 c.1300G>A p.E434K missense 0.00000827●●●●●●
393. 150710376 c.3164A>G p.H1055R missense 0.00000826●●●●●●
394. 150710392 c.3180G>C p.E1060D missense 0.00000826●●●●●●
395. 150710362 c.3150C>G p.C1050W missense 0.00000826●●●●●●
396. 150704213 c.1961C>G p.S654C missense 0.00000825●●●●●●
397. 150704194 c.1942T>G p.C648G missense 0.00000825●●●●●●
398. 150704198 c.1946T>C p.V649A missense 0.00000825●●●●●●
399. 150704209 c.1957G>A p.G653S missense 0.00000825●●●●●●
400. 150704190 c.1938G>T p.R646S missense 0.00000825●●●●●●
401. 150703990 c.1834C>T p.R612C missense 0.00000824●●●●●●
402. 150704042 c.1886A>G p.K629R missense 0.00000824●●●●●●
403. 150704029 c.1873T>A p.S625T missense 0.00000824●●●●●●
404. 150704035 c.1879C>T p.R627W missense 0.00000824●●●●●●
405. 150704068 c.1912A>G p.S638G missense 0.00000824●●●●●●
406. 150703987 c.1831A>G p.I611V 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.