NOTCH1 missense variants in ExAC

NOTCH1 gene summary
NOTCH1 variants in

The table below lists the NOTCH1 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. 139391338 c.6853G>A p.V2285I missense 0.02541060●●●●●●
2. 139401233 c.3836G>A p.R1279H missense 0.02012434●●●●●●
3. 139400219 c.4129C>T p.P1377S missense 0.01782690●●●●●●
4. 139399320 c.4823G>A p.R1608H missense 0.01300757●●●●●●
5. 139440187 c.52G>A p.A18T missense 0.00731707●●●●●●
6. 139399132 c.5011G>A p.V1671I missense 0.00514403●●●●●●
7. 139438552 c.64C>T p.P22S missense 0.00372340●●●●●●
8. 139405649 c.2542G>A p.E848K missense 0.00269717●●●●●●
9. 139401302 c.3767C>T p.P1256L missense 0.00217383●●●●●●
10. 139405111 c.2734C>T p.R912W missense 0.00194666●●●●●●
11. 139400320 c.4028C>T p.A1343V missense 0.00188140●●●●●●
12. 139391200 c.6991G>A p.A2331T missense 0.00153069●●●●●●
13. 139399222 c.4921C>T p.P1641S missense 0.00136073●●●●●●
14. 139391737 c.6454G>C p.G2152R missense 0.00134224●●●●●●
15. 139391794 c.6397C>T p.P2133S missense 0.00134093●●●●●●
16. 139409976 c.1862G>A p.R621H missense 0.00119858●●●●●●
17. 139418261 c.311A>G p.N104S missense 0.00094044●●●●●●
18. 139418204 c.368C>T p.T123M missense 0.00092989●●●●●●
19. 139400317 c.4031C>T p.T1344M missense 0.00076302●●●●●●
20. 139400299 c.4049G>T p.R1350L missense 0.00072940●●●●●●
21. 139390822 c.7369C>G p.L2457V missense 0.00066821●●●●●●
22. 139417343 c.701G>A p.R234H missense 0.00062235●●●●●●
23. 139400180 c.4168C>A p.P1390T missense 0.00062121●●●●●●
24. 139409089 c.2080G>A p.E694K missense 0.00061270●●●●●●
25. 139418309 c.263G>A p.S88N missense 0.00061238●●●●●●
26. 139402516 c.3401A>G p.Q1134R missense 0.00059274●●●●●●
27. 139399155 c.4988G>A p.R1663Q missense 0.00051352●●●●●●
28. 139404341 c.2813G>A p.R938Q missense 0.00049325●●●●●●
29. 139400252 c.4096G>A p.G1366S missense 0.00047393●●●●●●
30. 139410139 c.1699A>G p.I567V missense 0.00045472●●●●●●
31. 139390902 c.7289G>C p.G2430A missense 0.00042834●●●●●●
32. 139411768 c.1511G>A p.R504H missense 0.00042278●●●●●●
33. 139396919 c.5189C>T p.P1730L missense 0.00040713●●●●●●
34. 139390585 c.7606G>A p.V2536I missense 0.00039718●●●●●●
35. 139391403 c.6788G>A p.R2263Q missense 0.00039127●●●●●●
36. 139405696 c.2495C>T p.P832L missense 0.00038828●●●●●●
37. 139391458 c.6733G>A p.G2245R missense 0.00037999●●●●●●
38. 139409775 c.1981G>A p.G661S missense 0.00037752●●●●●●
39. 139410535 c.1567C>T p.H523Y missense 0.00036594●●●●●●
40. 139403378 c.3115G>A p.G1039S missense 0.00034622●●●●●●
41. 139401234 c.3835C>T p.R1279C missense 0.00032033●●●●●●
42. 139390543 c.7648A>G p.I2550V missense 0.00028476●●●●●●
43. 139399129 c.5014C>T p.R1672C missense 0.00026695●●●●●●
44. 139401023 c.3970G>A p.V1324M missense 0.00024231●●●●●●
45. 139411726 c.1553C>T p.T518M missense 0.00024033●●●●●●
46. 139396332 c.5506G>A p.D1836N missense 0.00023691●●●●●●
47. 139404342 c.2812C>T p.R938W missense 0.00023409●●●●●●
48. 139418375 c.197C>T p.T66I missense 0.00023109●●●●●●
49. 139417329 c.715G>A p.V239I missense 0.00022212●●●●●●
50. 139391211 c.6980G>A p.R2327Q missense 0.00022121●●●●●●
51. 139410136 c.1702G>A p.D568N missense 0.00022031●●●●●●
52. 139399172 c.4971C>G p.S1657R missense 0.00021701●●●●●●
53. 139410051 c.1787C>T p.T596M missense 0.00021166●●●●●●
54. 139412269 c.1376A>G p.N459S missense 0.00021066●●●●●●
55. 139396916 c.5192C>T p.P1731L missense 0.00020756●●●●●●
56. 139440222 c.17C>T p.A6V missense 0.00020000●●●●●●
57. 139403482 c.3011C>T p.S1004L missense 0.00018756●●●●●●
58. 139409061 c.2108G>A p.R703H missense 0.00018143●●●●●●
59. 139396925 c.5183C>T p.P1728L missense 0.00018108●●●●●●
60. 139390791 c.7400C>T p.S2467L missense 0.00017935●●●●●●
61. 139391101 c.7090A>G p.S2364G missense 0.00017616●●●●●●
62. 139404291 c.2863C>T p.R955C missense 0.00017563●●●●●●
63. 139391355 c.6836C>T p.A2279V missense 0.00017386●●●●●●
64. 139390546 c.7645C>T p.R2549C missense 0.00016899●●●●●●
65. 139391076 c.7115G>A p.R2372Q missense 0.00016770●●●●●●
66. 139417413 c.631A>G p.T211A missense 0.00016473●●●●●●
67. 139399156 c.4987C>T p.R1663W missense 0.00016255●●●●●●
68. 139391682 c.6509G>A p.S2170N missense 0.00016106●●●●●●
69. 139412350 c.1295C>T p.T432M missense 0.00016091●●●●●●
70. 139407581 c.2359A>C p.N787H missense 0.00015957●●●●●●
71. 139404290 c.2864G>A p.R955H missense 0.00015892●●●●●●
72. 139390804 c.7387G>A p.A2463T missense 0.00015663●●●●●●
73. 139391250 c.6941T>C p.L2314P missense 0.00015361●●●●●●
74. 139400299 c.4049G>A p.R1350H missense 0.00015051●●●●●●
75. 139408977 c.2192G>A p.R731Q missense 0.00014666●●●●●●
76. 139417337 c.707C>T p.T236M missense 0.00014372●●●●●●
77. 139408963 c.2206G>A p.G736R missense 0.00014369●●●●●●
78. 139400086 c.4262A>G p.N1421S missense 0.00014271●●●●●●
79. 139399491 c.4652G>T p.S1551I missense 0.00014086●●●●●●
80. 139399350 c.4793G>A p.R1598H missense 0.00014085●●●●●●
81. 139401802 c.3598G>A p.D1200N missense 0.00013916●●●●●●
82. 139391506 c.6685G>A p.V2229M missense 0.00013776●●●●●●
83. 139391253 c.6938G>A p.R2313Q missense 0.00013643●●●●●●
84. 139391968 c.6223G>A p.E2075K missense 0.00013314●●●●●●
85. 139391782 c.6409C>T p.P2137S missense 0.00013140●●●●●●
86. 139407858 c.2339G>A p.R780Q missense 0.00012656●●●●●●
87. 139400321 c.4027G>A p.A1343T missense 0.00012584●●●●●●
88. 139402747 c.3262G>A p.G1088S missense 0.00012574●●●●●●
89. 139396893 c.5215G>A p.V1739M missense 0.00012273●●●●●●
90. 139409043 c.2126A>G p.H709R missense 0.00012205●●●●●●
91. 139396835 c.5273G>A p.R1758H missense 0.00012069●●●●●●
92. 139407506 c.2434G>A p.G812R missense 0.00011825●●●●●●
93. 139400035 c.4313G>A p.R1438H missense 0.00011722●●●●●●
94. 139401390 c.3679C>T p.P1227S missense 0.00011693●●●●●●
95. 139417395 c.649C>T p.R217W missense 0.00011629●●●●●●
96. 139417344 c.700C>G p.R234G missense 0.00011593●●●●●●
97. 139396913 c.5195C>T p.A1732V missense 0.00011579●●●●●●
98. 139403377 c.3116G>T p.G1039V missense 0.00011570●●●●●●
99. 139438489 c.127A>T p.T43S missense 0.00011515●●●●●●
100. 139438491 c.125G>A p.G42D missense 0.00011499●●●●●●
101. 139408978 c.2191C>T p.R731W missense 0.00011309●●●●●●
102. 139399480 c.4663G>A p.E1555K missense 0.00011255●●●●●●
103. 139401206 c.3863T>C p.V1288A missense 0.00011060●●●●●●
104. 139418415 c.157G>A p.V53M missense 0.00010964●●●●●●
105. 139413909 c.851C>T p.P284L missense 0.00010905●●●●●●
106. 139417425 c.619C>A p.R207S missense 0.00010704●●●●●●
107. 139412607 c.1237G>A p.V413M missense 0.00010646●●●●●●
108. 139396884 c.5224G>T p.A1742S missense 0.00010482●●●●●●
109. 139401847 c.3553G>A p.D1185N missense 0.00010425●●●●●●
110. 139403432 c.3061G>A p.D1021N missense 0.00010221●●●●●●
111. 139407844 c.2353G>A p.G785S missense 0.00010134●●●●●●
112. 139401023 c.3970G>T p.V1324L missense 0.00009913●●●●●●
113. 139405191 c.2654A>G p.Q885R missense 0.00009670●●●●●●
114. 139403492 c.3001G>A p.G1001S missense 0.00009524●●●●●●
115. 139402583 c.3334G>A p.V1112I missense 0.00009508●●●●●●
116. 139405209 c.2636G>A p.R879Q missense 0.00009497●●●●●●
117. 139401209 c.3860G>A p.R1287H missense 0.00009485●●●●●●
118. 139410156 c.1682C>T p.T561M missense 0.00009466●●●●●●
119. 139396518 c.5407G>A p.G1803S missense 0.00009241●●●●●●
120. 139404245 c.2909C>T p.T970I missense 0.00009212●●●●●●
121. 139401216 c.3853G>A p.V1285M missense 0.00009022●●●●●●
122. 139391815 c.6376G>A p.G2126R missense 0.00008738●●●●●●
123. 139399348 c.4795G>A p.V1599M missense 0.00008521●●●●●●
124. 139411736 c.1543G>C p.E515Q missense 0.00008481●●●●●●
125. 139418189 c.383G>A p.R128H missense 0.00008461●●●●●●
126. 139396889 c.5219C>T p.A1740V missense 0.00008402●●●●●●
127. 139396507 c.5418G>A p.M1806I missense 0.00008394●●●●●●
128. 139410121 c.1717G>A p.D573N missense 0.00008367●●●●●●
129. 139400191 c.4157C>T p.P1386L missense 0.00008219●●●●●●
130. 139400302 c.4046C>T p.A1349V missense 0.00008158●●●●●●
131. 139417517 c.527G>A p.R176Q missense 0.00008063●●●●●●
132. 139390806 c.7385C>T p.P2462L missense 0.00007787●●●●●●
133. 139399201 c.4942G>A p.V1648M missense 0.00007741●●●●●●
134. 139391734 c.6457G>A p.V2153M missense 0.00007733●●●●●●
135. 139401088 c.3905G>A p.R1302H missense 0.00007670●●●●●●
136. 139391145 c.7046C>T p.P2349L missense 0.00007598●●●●●●
137. 139391634 c.6557G>T p.G2186V missense 0.00007594●●●●●●
138. 139438494 c.122A>G p.N41S missense 0.00007542●●●●●●
139. 139401085 c.3908G>A p.R1303H missense 0.00007528●●●●●●
140. 139402819 c.3190G>A p.D1064N missense 0.00007517●●●●●●
141. 139399805 c.4543C>T p.L1515F missense 0.00007363●●●●●●
142. 139410001 c.1837C>T p.R613C missense 0.00007119●●●●●●
143. 139417634 c.410C>T p.S137L missense 0.00007069●●●●●●
144. 139417370 c.674C>G p.S225W missense 0.00007014●●●●●●
145. 139399976 c.4372G>A p.A1458T missense 0.00006860●●●●●●
146. 139402543 c.3374C>T p.A1125V missense 0.00006818●●●●●●
147. 139391710 c.6481C>T p.P2161S missense 0.00006815●●●●●●
148. 139391163 c.7028A>T p.Q2343L missense 0.00006780●●●●●●
149. 139395162 c.5776C>T p.R1926C missense 0.00006729●●●●●●
150. 139396512 c.5413C>T p.L1805F missense 0.00006717●●●●●●
151. 139409040 c.2129A>C p.D710A missense 0.00006610●●●●●●
152. 139417596 c.448G>A p.A150T missense 0.00006444●●●●●●
153. 139403339 c.3154A>G p.T1052A missense 0.00006411●●●●●●
154. 139399237 c.4906G>A p.E1636K missense 0.00006313●●●●●●
155. 139410091 c.1747G>A p.G583S missense 0.00006275●●●●●●
156. 139390825 c.7366A>G p.I2456V missense 0.00006255●●●●●●
157. 139400020 c.4328C>T p.P1443L missense 0.00006253●●●●●●
158. 139417386 c.658G>A p.V220M missense 0.00006168●●●●●●
159. 139391476 c.6715G>A p.D2239N missense 0.00006161●●●●●●
160. 139403351 c.3142C>T p.P1048S missense 0.00006151●●●●●●
161. 139391808 c.6383C>T p.P2128L missense 0.00006126●●●●●●
162. 139413105 c.1037A>C p.H346P missense 0.00006079●●●●●●
163. 139391896 c.6295G>A p.D2099N missense 0.00006023●●●●●●
164. 139399897 c.4451A>G p.N1484S missense 0.00005945●●●●●●
165. 139399243 c.4900G>A p.A1634T missense 0.00005907●●●●●●
166. 139399245 c.4898G>A p.R1633H missense 0.00005797●●●●●●
167. 139417475 c.569G>A p.R190H missense 0.00005784●●●●●●
168. 139417475 c.569G>T p.R190L missense 0.00005784●●●●●●
169. 139399784 c.4564C>G p.Q1522E missense 0.00005773●●●●●●
170. 139409062 c.2107C>T p.R703C missense 0.00005597●●●●●●
171. 139417485 c.559G>A p.G187R missense 0.00005569●●●●●●
172. 139400245 c.4103G>A p.R1368H missense 0.00005545●●●●●●
173. 139418424 c.148G>A p.G50R missense 0.00005480●●●●●●
174. 139417422 c.622G>A p.A208T missense 0.00005459●●●●●●
175. 139391464 c.6727G>A p.G2243S missense 0.00005360●●●●●●
176. 139417436 c.608G>A p.R203H missense 0.00005263●●●●●●
177. 139417436 c.608G>T p.R203L missense 0.00005263●●●●●●
178. 139413103 c.1039G>T p.G347C missense 0.00005213●●●●●●
179. 139409974 c.1864G>A p.D622N missense 0.00005211●●●●●●
180. 139405210 c.2635C>T p.R879W missense 0.00005174●●●●●●
181. 139410117 c.1721C>T p.P574L missense 0.00005128●●●●●●
182. 139402421 c.3496G>A p.G1166S missense 0.00005056●●●●●●
183. 139403515 c.2978T>G p.F993C missense 0.00005022●●●●●●
184. 139404272 c.2882C>T p.T961M missense 0.00005019●●●●●●
185. 139404371 c.2783C>T p.T928M missense 0.00005017●●●●●●
186. 139393401 c.6130G>A p.A2044T missense 0.00004984●●●●●●
187. 139411796 c.1483G>A p.A495T missense 0.00004959●●●●●●
188. 139399811 c.4537G>A p.G1513S missense 0.00004919●●●●●●
189. 139417503 c.541G>A p.E181K missense 0.00004894●●●●●●
190. 139403498 c.2995G>A p.V999M missense 0.00004824●●●●●●
191. 139403459 c.3034G>A p.G1012S missense 0.00004795●●●●●●
192. 139399458 c.4685C>T p.A1562V missense 0.00004775●●●●●●
193. 139403476 c.3017C>T p.T1006I missense 0.00004662●●●●●●
194. 139399856 c.4492A>G p.K1498E missense 0.00004656●●●●●●
195. 139412594 c.1250C>T p.S417L missense 0.00004569●●●●●●
196. 139390893 c.7298T>C p.F2433S missense 0.00004548●●●●●●
197. 139400110 c.4238G>A p.R1413H missense 0.00004525●●●●●●
198. 139401182 c.3887G>A p.R1296H missense 0.00004499●●●●●●
199. 139400327 c.4021G>A p.E1341K missense 0.00004481●●●●●●
200. 139390912 c.7279G>A p.G2427S missense 0.00004404●●●●●●
201. 139399278 c.4865G>A p.R1622H missense 0.00004388●●●●●●
202. 139409949 c.1889T>C p.L630P missense 0.00004382●●●●●●
203. 139405110 c.2735G>A p.R912Q missense 0.00004361●●●●●●
204. 139409968 c.1870G>A p.A624T missense 0.00004348●●●●●●
205. 139399279 c.4864C>T p.R1622C missense 0.00004326●●●●●●
206. 139396233 c.5605G>T p.A1869S missense 0.00004320●●●●●●
207. 139402579 c.3338C>T p.A1113V missense 0.00004317●●●●●●
208. 139402576 c.3341G>A p.R1114H missense 0.00004315●●●●●●
209. 139391737 c.6454G>A p.G2152S missense 0.00004302●●●●●●
210. 139405225 c.2620G>A p.V874I missense 0.00004291●●●●●●
211. 139412708 c.1136A>G p.N379S missense 0.00004276●●●●●●
212. 139396265 c.5573T>C p.M1858T missense 0.00004270●●●●●●
213. 139405670 c.2521G>A p.G841S missense 0.00004261●●●●●●
214. 139391608 c.6583G>A p.G2195S missense 0.00004225●●●●●●
215. 139407859 c.2338C>T p.R780W missense 0.00004217●●●●●●
216. 139390693 c.7498C>G p.H2500D missense 0.00004198●●●●●●
217. 139402738 c.3271G>A p.G1091S missense 0.00004196●●●●●●
218. 139396487 c.5438G>T p.W1813L missense 0.00004195●●●●●●
219. 139410145 c.1693G>A p.V565M missense 0.00004194●●●●●●
220. 139397732 c.5069C>T p.S1690L missense 0.00004192●●●●●●
221. 139413937 c.823G>A p.G275S missense 0.00004189●●●●●●
222. 139404246 c.2908A>G p.T970A missense 0.00004188●●●●●●
223. 139393359 c.6172A>G p.N2058D missense 0.00004159●●●●●●
224. 139400989 c.4004A>G p.K1335R missense 0.00003984●●●●●●
225. 139438488 c.128C>T p.T43M missense 0.00003866●●●●●●
226. 139401299 c.3770C>T p.P1257L missense 0.00003863●●●●●●
227. 139409083 c.2086G>A p.G696S missense 0.00003850●●●●●●
228. 139390794 c.7397C>T p.T2466M missense 0.00003843●●●●●●
229. 139396734 c.5374G>A p.V1792M missense 0.00003767●●●●●●
230. 139410037 c.1801G>A p.E601K missense 0.00003758●●●●●●
231. 139401220 c.3849C>G p.N1283K missense 0.00003754●●●●●●
232. 139390828 c.7363A>G p.T2455A missense 0.00003741●●●●●●
233. 139391407 c.6784G>A p.G2262S missense 0.00003736●●●●●●
234. 139400126 c.4222G>A p.E1408K missense 0.00003687●●●●●●
235. 139390834 c.7357G>A p.V2453M missense 0.00003683●●●●●●
236. 139401821 c.3579G>T p.Q1193H missense 0.00003664●●●●●●
237. 139405171 c.2674C>T p.R892C missense 0.00003663●●●●●●
238. 139400041 c.4307C>T p.A1436V missense 0.00003606●●●●●●
239. 139405180 c.2665G>A p.G889S missense 0.00003575●●●●●●
240. 139395248 c.5690C>T p.T1897M missense 0.00003563●●●●●●
241. 139412630 c.1214C>T p.T405M missense 0.00003560●●●●●●
242. 139411831 c.1448A>T p.E483V missense 0.00003511●●●●●●
243. 139401074 c.3919G>A p.V1307I missense 0.00003504●●●●●●
244. 139408964 c.2205C>G p.N735K missense 0.00003494●●●●●●
245. 139409977 c.1861C>T p.R621C missense 0.00003480●●●●●●
246. 139391491 c.6700C>G p.L2234V missense 0.00003469●●●●●●
247. 139417523 c.521C>T p.T174I missense 0.00003449●●●●●●
248. 139391908 c.6283C>T p.R2095C missense 0.00003448●●●●●●
249. 139391517 c.6674A>G p.Q2225R missense 0.00003423●●●●●●
250. 139399922 c.4426G>A p.G1476S missense 0.00003400●●●●●●
251. 139399488 c.4655C>T p.A1552V missense 0.00003397●●●●●●
252. 139391670 c.6521A>G p.K2174R missense 0.00003387●●●●●●
253. 139395068 c.5870A>C p.Q1957P missense 0.00003370●●●●●●
254. 139413142 c.1000G>A p.E334K missense 0.00003369●●●●●●
255. 139399777 c.4571C>T p.A1524V missense 0.00003367●●●●●●
256. 139407901 c.2296G>A p.G766S missense 0.00003366●●●●●●
257. 139395108 c.5830G>A p.A1944T missense 0.00003365●●●●●●
258. 139409753 c.2003C>T p.P668L missense 0.00003365●●●●●●
259. 139401068 c.3925A>C p.N1309H missense 0.00003363●●●●●●
260. 139396503 c.5422G>A p.D1808N missense 0.00003357●●●●●●
261. 139404237 c.2917G>A p.A973T missense 0.00003352●●●●●●
262. 139402795 c.3214G>A p.G1072S missense 0.00003342●●●●●●
263. 139393576 c.6070G>A p.V2024I missense 0.00003340●●●●●●
264. 139393382 c.6149A>G p.N2050S missense 0.00003324●●●●●●
265. 139417590 c.454G>A p.G152S missense 0.00003312●●●●●●
266. 139390716 c.7475C>T p.S2492L missense 0.00003294●●●●●●
267. 139390559 c.7632G>C p.Q2544H missense 0.00003251●●●●●●
268. 139399315 c.4828G>T p.A1610S missense 0.00003245●●●●●●
269. 139410127 c.1711G>T p.D571Y missense 0.00003242●●●●●●
270. 139396934 c.5174C>T p.T1725I missense 0.00003178●●●●●●
271. 139408971 c.2198G>A p.S733N missense 0.00003170●●●●●●
272. 139390864 c.7327G>A p.V2443M missense 0.00003123●●●●●●
273. 139401375 c.3694G>A p.V1232M missense 0.00003082●●●●●●
274. 139399329 c.4814T>C p.V1605A missense 0.00002994●●●●●●
275. 139401345 c.3724G>A p.G1242S missense 0.00002978●●●●●●
276. 139396860 c.5248G>A p.V1750M missense 0.00002977●●●●●●
277. 139399333 c.4810G>A p.V1604M missense 0.00002955●●●●●●
278. 139401321 c.3748G>A p.G1250S missense 0.00002945●●●●●●
279. 139410085 c.1753G>A p.A585T missense 0.00002909●●●●●●
280. 139390878 c.7313C>T p.P2438L missense 0.00002909●●●●●●
281. 139396904 c.5204A>G p.H1735R missense 0.00002907●●●●●●
282. 139410123 c.1715C>A p.P572H missense 0.00002850●●●●●●
283. 139396928 c.5180A>G p.E1727G missense 0.00002801●●●●●●
284. 139401207 c.3862G>A p.V1288I missense 0.00002766●●●●●●
285. 139409122 c.2047G>A p.A683T missense 0.00002757●●●●●●
286. 139391446 c.6745G>A p.V2249M missense 0.00002752●●●●●●
287. 139391452 c.6739C>G p.L2247V missense 0.00002732●●●●●●
288. 139401817 c.3583G>A p.G1195R missense 0.00002714●●●●●●
289. 139400039 c.4309G>A p.G1437R missense 0.00002705●●●●●●
290. 139390899 c.7292G>A p.R2431Q missense 0.00002694●●●●●●
291. 139396766 c.5342A>G p.K1781R missense 0.00002664●●●●●●
292. 139401883 c.3517G>T p.A1173S missense 0.00002658●●●●●●
293. 139396208 c.5630G>A p.R1877H missense 0.00002651●●●●●●
294. 139400013 c.4335C>G p.I1445M missense 0.00002648●●●●●●
295. 139409995 c.1843G>A p.G615R missense 0.00002637●●●●●●
296. 139413102 c.1040G>T p.G347V missense 0.00002622●●●●●●
297. 139391816 c.6375C>G p.H2125Q missense 0.00002621●●●●●●
298. 139400000 c.4348G>A p.E1450K missense 0.00002610●●●●●●
299. 139391761 c.6430G>A p.G2144S missense 0.00002607●●●●●●
300. 139409970 c.1868A>G p.N623S missense 0.00002605●●●●●●
301. 139391833 c.6358C>T p.R2120C missense 0.00002605●●●●●●
302. 139390930 c.7261G>A p.V2421M missense 0.00002602●●●●●●
303. 139391840 c.6351C>A p.N2117K missense 0.00002597●●●●●●
304. 139391932 c.6259C>T p.R2087W missense 0.00002591●●●●●●
305. 139391934 c.6257A>G p.N2086S missense 0.00002589●●●●●●
306. 139390809 c.7382G>A p.S2461N missense 0.00002580●●●●●●
307. 139391893 c.6298A>G p.I2100V missense 0.00002579●●●●●●
308. 139401089 c.3904C>T p.R1302C missense 0.00002579●●●●●●
309. 139399975 c.4373C>T p.A1458V missense 0.00002573●●●●●●
310. 139391554 c.6637G>A p.V2213M missense 0.00002564●●●●●●
311. 139391526 c.6665C>T p.P2222L missense 0.00002564●●●●●●
312. 139412368 c.1277C>T p.A426V missense 0.00002559●●●●●●
313. 139391242 c.6949G>A p.G2317S missense 0.00002558●●●●●●
314. 139397635 c.5166G>C p.Q1722H missense 0.00002553●●●●●●
315. 139401769 c.3631C>T p.R1211W missense 0.00002553●●●●●●
316. 139395221 c.5717C>T p.A1906V missense 0.00002553●●●●●●
317. 139396296 c.5542C>A p.L1848M missense 0.00002549●●●●●●
318. 139399936 c.4412C>T p.A1471V missense 0.00002549●●●●●●
319. 139399931 c.4417G>A p.G1473S missense 0.00002548●●●●●●
320. 139407979 c.2218G>A p.D740N missense 0.00002544●●●●●●
321. 139390819 c.7372C>A p.P2458T missense 0.00002542●●●●●●
322. 139396362 c.5476G>A p.E1826K missense 0.00002533●●●●●●
323. 139407900 c.2297G>T p.G766V missense 0.00002525●●●●●●
324. 139395161 c.5777G>A p.R1926H missense 0.00002523●●●●●●
325. 139402723 c.3286G>A p.V1096M missense 0.00002521●●●●●●
326. 139396511 c.5414T>C p.L1805P missense 0.00002519●●●●●●
327. 139397778 c.5023A>G p.I1675V missense 0.00002518●●●●●●
328. 139414012 c.748A>G p.T250A missense 0.00002518●●●●●●
329. 139407526 c.2414C>T p.T805M missense 0.00002518●●●●●●
330. 139391041 c.7150C>G p.Q2384E missense 0.00002517●●●●●●
331. 139391061 c.7130C>T p.P2377L missense 0.00002516●●●●●●
332. 139391071 c.7120G>T p.A2374S missense 0.00002516●●●●●●
333. 139407553 c.2387C>T p.A796V missense 0.00002515●●●●●●
334. 139402759 c.3250G>A p.E1084K missense 0.00002513●●●●●●
335. 139402764 c.3245G>A p.R1082H missense 0.00002512●●●●●●
336. 139399398 c.4745C>T p.P1582L missense 0.00002488●●●●●●
337. 139399401 c.4742C>T p.P1581L missense 0.00002440●●●●●●
338. 139399402 c.4741C>T p.P1581S missense 0.00002436●●●●●●
339. 139401871 c.3529G>A p.G1177R missense 0.00002433●●●●●●
340. 139418190 c.382C>T p.R128C missense 0.00002378●●●●●●
341. 139418394 c.178C>A p.P60T missense 0.00002362●●●●●●
342. 139417544 c.500C>T p.P167L missense 0.00002357●●●●●●
343. 139408987 c.2182G>A p.G728R missense 0.00002344●●●●●●
344. 139409053 c.2116G>A p.E706K missense 0.00002326●●●●●●
345. 139401013 c.3980A>G p.N1327S missense 0.00002326●●●●●●
346. 139390545 c.7646G>A p.R2549H missense 0.00002271●●●●●●
347. 139401402 c.3667G>A p.D1223N missense 0.00002262●●●●●●
348. 139396878 c.5230T>C p.F1744L missense 0.00002241●●●●●●
349. 139390549 c.7642G>A p.A2548T missense 0.00002232●●●●●●
350. 139401399 c.3670G>A p.D1224N missense 0.00002220●●●●●●
351. 139417550 c.494A>G p.H165R missense 0.00002214●●●●●●
352. 139410063 c.1775G>A p.R592H missense 0.00002211●●●●●●
353. 139400248 c.4100C>T p.P1367L missense 0.00002205●●●●●●
354. 139412697 c.1147G>A p.E383K missense 0.00002204●●●●●●
355. 139401858 c.3542C>T p.S1181F missense 0.00002189●●●●●●
356. 139399426 c.4717A>G p.T1573A missense 0.00002186●●●●●●
357. 139401240 c.3829G>A p.D1277N missense 0.00002182●●●●●●
358. 139396872 c.5236C>T p.L1746F missense 0.00002149●●●●●●
359. 139412724 c.1120G>A p.D374N missense 0.00002148●●●●●●
360. 139418387 c.185C>T p.P62L missense 0.00002130●●●●●●
361. 139408993 c.2176G>A p.V726I missense 0.00002109●●●●●●
362. 139418211 c.361A>G p.T121A missense 0.00002079●●●●●●
363. 139401384 c.3685G>A p.V1229I missense 0.00002077●●●●●●
364. 139405120 c.2725G>A p.D909N missense 0.00002060●●●●●●
365. 139401369 c.3700C>T p.R1234W missense 0.00002031●●●●●●
366. 139401368 c.3701G>A p.R1234Q missense 0.00002028●●●●●●
367. 139413048 c.1094G>T p.R365L missense 0.00001996●●●●●●
368. 139405126 c.2719G>A p.D907N missense 0.00001988●●●●●●
369. 139401261 c.3808G>A p.E1270K missense 0.00001983●●●●●●
370. 139417566 c.478G>A p.A160T missense 0.00001957●●●●●●
371. 139401318 c.3751T>G p.Y1251D missense 0.00001954●●●●●●
372. 139400165 c.4183A>G p.N1395D missense 0.00001946●●●●●●
373. 139395264 c.5674G>A p.G1892R missense 0.00001934●●●●●●
374. 139418237 c.335G>A p.R112H missense 0.00001933●●●●●●
375. 139401291 c.3778G>A p.V1260M missense 0.00001928●●●●●●
376. 139409148 c.2021T>C p.M674T missense 0.00001926●●●●●●
377. 139401292 c.3777C>G p.F1259L missense 0.00001925●●●●●●
378. 139391986 c.6205G>A p.A2069T missense 0.00001921●●●●●●
379. 139409086 c.2083G>T p.D695Y missense 0.00001901●●●●●●
380. 139412624 c.1220C>T p.P407L missense 0.00001881●●●●●●
381. 139391404 c.6787C>T p.R2263W missense 0.00001861●●●●●●
382. 139391454 c.6737A>G p.H2246R missense 0.00001817●●●●●●
383. 139400033 c.4315G>A p.D1439N missense 0.00001805●●●●●●
384. 139390900 c.7291C>T p.R2431W missense 0.00001791●●●●●●
385. 139399440 c.4703G>A p.R1568K missense 0.00001789●●●●●●
386. 139391377 c.6814C>T p.R2272C missense 0.00001780●●●●●●
387. 139405699 c.2492C>T p.A831V missense 0.00001775●●●●●●
388. 139396787 c.5321A>G p.K1774R missense 0.00001773●●●●●●
389. 139405694 c.2497T>A p.C833S missense 0.00001757●●●●●●
390. 139391962 c.6229G>A p.A2077T missense 0.00001757●●●●●●
391. 139391794 c.6397C>A p.P2133T missense 0.00001753●●●●●●
392. 139391814 c.6377G>C p.G2126A missense 0.00001747●●●●●●
393. 139391769 c.6422C>T p.S2141L missense 0.00001744●●●●●●
394. 139405201 c.2644G>A p.A882T missense 0.00001742●●●●●●
395. 139390941 c.7250C>T p.P2417L missense 0.00001742●●●●●●
396. 139413103 c.1039G>A p.G347S missense 0.00001738●●●●●●
397. 139399871 c.4477T>C p.S1493P missense 0.00001738●●●●●●
398. 139405205 c.2640C>A p.H880Q missense 0.00001732●●●●●●
399. 139399991 c.4357G>A p.E1453K missense 0.00001731●●●●●●
400. 139417583 c.461A>G p.Q154R missense 0.00001730●●●●●●
401. 139391848 c.6343G>C p.E2115Q missense 0.00001728●●●●●●
402. 139391931 c.6260G>A p.R2087Q missense 0.00001727●●●●●●
403. 139391926 c.6265A>G p.I2089V missense 0.00001726●●●●●●
404. 139391907 c.6284G>A p.R2095H missense 0.00001725●●●●●●
405. 139405685 c.2506A>C p.S836R missense 0.00001725●●●●●●
406. 139391898 c.6293G>A p.R2098H missense 0.00001722●●●●●●
407. 139399876 c.4472C>T p.T1491M missense 0.00001721●●●●●●
408. 139391544 c.6647C>T p.P2216L missense 0.00001720●●●●●●
409. 139391869 c.6322G>A p.D2108N missense 0.00001720●●●●●●
410. 139405215 c.2630C>T p.P877L missense 0.00001720●●●●●●
411. 139391511 c.6680C>T p.P2227L missense 0.00001716●●●●●●
412. 139390962 c.7229C>T p.P2410L missense 0.00001715●●●●●●
413. 139400996 c.3997A>G p.I1333V missense 0.00001714●●●●●●
414. 139390968 c.7223T>C p.L2408P missense 0.00001709●●●●●●
415. 139396266 c.5572A>C p.M1858L missense 0.00001708●●●●●●
416. 139391716 c.6475C>T p.R2159C missense 0.00001707●●●●●●
417. 139391293 c.6898G>A p.G2300R missense 0.00001706●●●●●●
418. 139391245 c.6946A>G p.S2316G missense 0.00001705●●●●●●
419. 139391254 c.6937C>T p.R2313W missense 0.00001705●●●●●●
420. 139391281 c.6910T>G p.L2304V missense 0.00001704●●●●●●
421. 139405667 c.2524G>A p.G842R missense 0.00001703●●●●●●
422. 139391212 c.6979C>T p.R2327W missense 0.00001702●●●●●●
423. 139401762 c.3638C>T p.T1213I missense 0.00001702●●●●●●
424. 139401768 c.3632G>A p.R1211Q missense 0.00001702●●●●●●
425. 139410097 c.1741A>G p.K581E missense 0.00001700●●●●●●
426. 139410534 c.1568A>G p.H523R missense 0.00001699●●●●●●
427. 139395213 c.5725G>A p.V1909I missense 0.00001698●●●●●●
428. 139391175 c.7016C>A p.A2339D missense 0.00001698●●●●●●
429. 139402516 c.3401A>T p.Q1134L missense 0.00001694●●●●●●
430. 139410520 c.1582G>A p.D528N missense 0.00001693●●●●●●
431. 139402515 c.3402G>T p.Q1134H missense 0.00001693●●●●●●
432. 139410512 c.1590C>G p.D530E missense 0.00001692●●●●●●
433. 139391656 c.6535C>T p.R2179W missense 0.00001692●●●●●●
434. 139391655 c.6536G>A p.R2179Q missense 0.00001691●●●●●●
435. 139402689 c.3320G>A p.R1107Q missense 0.00001690●●●●●●
436. 139402501 c.3416G>A p.G1139D missense 0.00001690●●●●●●
437. 139396353 c.5485G>A p.V1829M missense 0.00001690●●●●●●
438. 139410477 c.1625A>C p.K542T missense 0.00001690●●●●●●
439. 139402692 c.3317A>G p.Q1106R missense 0.00001689●●●●●●
440. 139396363 c.5475C>G p.F1825L missense 0.00001689●●●●●●
441. 139405615 c.2576C>T p.T859M missense 0.00001689●●●●●●
442. 139390995 c.7196C>T p.P2399L missense 0.00001687●●●●●●
443. 139402484 c.3433C>G p.L1145V missense 0.00001687●●●●●●
444. 139407871 c.2326G>T p.V776L missense 0.00001687●●●●●●
445. 139407871 c.2326G>A p.V776M missense 0.00001687●●●●●●
446. 139412288 c.1357G>A p.V453I missense 0.00001686●●●●●●
447. 139412261 c.1384C>G p.Q462E missense 0.00001685●●●●●●
448. 139412272 c.1373C>T p.S458L missense 0.00001685●●●●●●
449. 139402435 c.3482C>T p.T1161M missense 0.00001684●●●●●●
450. 139407879 c.2318G>C p.S773T missense 0.00001684●●●●●●
451. 139402448 c.3469G>A p.G1157R missense 0.00001684●●●●●●
452. 139407936 c.2261A>G p.N754S missense 0.00001683●●●●●●
453. 139395173 c.5765A>G p.N1922S missense 0.00001683●●●●●●
454. 139407515 c.2425G>A p.D809N missense 0.00001682●●●●●●
455. 139395161 c.5777G>T p.R1926L missense 0.00001682●●●●●●
456. 139404410 c.2744C>T p.P915L missense 0.00001680●●●●●●
457. 139396481 c.5444A>G p.D1815G missense 0.00001679●●●●●●
458. 139413262 c.880G>A p.E294K missense 0.00001679●●●●●●
459. 139396479 c.5446G>A p.E1816K missense 0.00001679●●●●●●
460. 139409769 c.1987G>A p.E663K missense 0.00001679●●●●●●
461. 139409841 c.1915G>A p.E639K missense 0.00001678●●●●●●
462. 139396484 c.5441G>A p.G1814E missense 0.00001678●●●●●●
463. 139391034 c.7157A>G p.Q2386R missense 0.00001678●●●●●●
464. 139396487 c.5438G>C p.W1813S missense 0.00001678●●●●●●
465. 139391053 c.7138G>A p.V2380M missense 0.00001677●●●●●●
466. 139404401 c.2753A>G p.N918S missense 0.00001676●●●●●●
467. 139414009 c.751G>A p.G251S missense 0.00001675●●●●●●
468. 139393659 c.5987C>T p.T1996M missense 0.00001675●●●●●●
469. 139402764 c.3245G>T p.R1082L missense 0.00001675●●●●●●
470. 139413198 c.944C>A p.T315N missense 0.00001675●●●●●●
471. 139402771 c.3238C>G p.Q1080E missense 0.00001674●●●●●●
472. 139413955 c.805G>A p.G269R missense 0.00001674●●●●●●
473. 139404258 c.2896A>G p.S966G missense 0.00001674●●●●●●
474. 139404300 c.2854G>C p.D952H missense 0.00001673●●●●●●
475. 139413985 c.775G>A p.D259N missense 0.00001673●●●●●●
476. 139404287 c.2867A>G p.N956S missense 0.00001673●●●●●●
477. 139404360 c.2794G>A p.D932N missense 0.00001672●●●●●●
478. 139393627 c.6019G>A p.V2007M missense 0.00001671●●●●●●
479. 139393585 c.6061G>A p.V2021I missense 0.00001669●●●●●●
480. 139410096 c.1742A>G p.K581R missense 0.00001657●●●●●●
481. 139417592 c.452A>G p.N151S missense 0.00001625●●●●●●
482. 139417604 c.440A>T p.N147I missense 0.00001600●●●●●●
483. 139396907 c.5201T>A p.L1734Q missense 0.00001541●●●●●●
484. 139412648 c.1196C>G p.T399S missense 0.00001513●●●●●●
485. 139401176 c.3893G>C p.G1298A missense 0.00001510●●●●●●
486. 139401002 c.3991G>A p.G1331R missense 0.00001507●●●●●●
487. 139400327 c.4021G>C p.E1341Q missense 0.00001494●●●●●●
488. 139410088 c.1750G>A p.V584I missense 0.00001492●●●●●●
489. 139400324 c.4024G>A p.G1342S missense 0.00001459●●●●●●
490. 139400323 c.4025G>A p.G1342D missense 0.00001457●●●●●●
491. 139409020 c.2149G>A p.V717I missense 0.00001455●●●●●●
492. 139418178 c.394G>A p.G132S missense 0.00001455●●●●●●
493. 139410085 c.1753G>T p.A585S missense 0.00001454●●●●●●
494. 139401195 c.3874C>T p.H1292Y missense 0.00001433●●●●●●
495. 139411736 c.1543G>A p.E515K missense 0.00001413●●●●●●
496. 139411810 c.1469A>G p.N490S missense 0.00001378●●●●●●
497. 139401423 c.3646G>A p.V1216M missense 0.00001374●●●●●●
498. 139412658 c.1186G>T p.A396S missense 0.00001372●●●●●●
499. 139401210 c.3859C>T p.R1287C missense 0.00001351●●●●●●
500. 139395297 c.5641G>T p.G1881C missense 0.00001343●●●●●●
501. 139411807 c.1472C>T p.T491I missense 0.00001335●●●●●●
502. 139411743 c.1536C>G p.F512L missense 0.00001322●●●●●●
503. 139418183 c.389C>T p.P130L missense 0.00001308●●●●●●
504. 139411746 c.1533G>T p.E511D missense 0.00001291●●●●●●
505. 139401008 c.3985G>A p.A1329T missense 0.00001290●●●●●●
506. 139390809 c.7382G>T p.S2461I missense 0.00001290●●●●●●
507. 139418346 c.226G>A p.V76M missense 0.00001290●●●●●●
508. 139418184 c.388C>G p.P130A missense 0.00001283●●●●●●
509. 139401217 c.3852C>G p.C1284W missense 0.00001281●●●●●●
510. 139390779 c.7412C>T p.S2471L missense 0.00001258●●●●●●
511. 139399479 c.4664A>T p.E1555V missense 0.00001257●●●●●●
512. 139418342 c.230T>G p.V77G missense 0.00001244●●●●●●
513. 139411753 c.1526T>A p.I509N missense 0.00001239●●●●●●
514. 139390759 c.7432G>A p.A2478T missense 0.00001228●●●●●●
515. 139401080 c.3913G>A p.E1305K missense 0.00001226●●●●●●
516. 139395288 c.5650C>A p.P1884T missense 0.00001222●●●●●●
517. 139390836 c.7355C>T p.A2452V missense 0.00001212●●●●●●
518. 139400309 c.4039A>G p.N1347D missense 0.00001210●●●●●●
519. 139411758 c.1521C>A p.D507E missense 0.00001206●●●●●●
520. 139418336 c.236G>A p.R79H missense 0.00001204●●●●●●
521. 139396886 c.5222C>T p.A1741V missense 0.00001180●●●●●●
522. 139400282 c.4066C>T p.R1356C missense 0.00001172●●●●●●
523. 139411769 c.1510C>T p.R504C missense 0.00001169●●●●●●
524. 139400299 c.4049G>C p.R1350P missense 0.00001158●●●●●●
525. 139390539 c.7652C>T p.P2551L missense 0.00001156●●●●●●
526. 139418330 c.242G>A p.G81D missense 0.00001154●●●●●●
527. 139409056 c.2113C>T p.P705S missense 0.00001153●●●●●●
528. 139401014 c.3979A>G p.N1327D missense 0.00001151●●●●●●
529. 139396881 c.5227G>A p.A1743T missense 0.00001150●●●●●●
530. 139400285 c.4063C>G p.L1355V missense 0.00001149●●●●●●
531. 139401405 c.3664G>A p.V1222M missense 0.00001149●●●●●●
532. 139400291 c.4057G>A p.G1353S missense 0.00001140●●●●●●
533. 139399836 c.4512C>G p.H1504Q missense 0.00001139●●●●●●
534. 139418328 c.244G>A p.V82M missense 0.00001137●●●●●●
535. 139412688 c.1156A>G p.N386D missense 0.00001131●●●●●●
536. 139401236 c.3833C>T p.A1278V missense 0.00001125●●●●●●
537. 139418198 c.374A>G p.Y125C missense 0.00001118●●●●●●
538. 139418325 c.247G>A p.A83T missense 0.00001113●●●●●●
539. 139390719 c.7472C>A p.S2491Y missense 0.00001107●●●●●●
540. 139400270 c.4078G>A p.G1360S missense 0.00001107●●●●●●
541. 139400264 c.4084A>G p.T1362A missense 0.00001106●●●●●●
542. 139410063 c.1775G>T p.R592L missense 0.00001105●●●●●●
543. 139400252 c.4096G>C p.G1366R missense 0.00001102●●●●●●
544. 139390854 c.7337T>C p.L2446P missense 0.00001092●●●●●●
545. 139390560 c.7631A>G p.Q2544R missense 0.00001083●●●●●●
546. 139390564 c.7627A>T p.M2543L missense 0.00001073●●●●●●
547. 139390858 c.7333C>T p.P2445S missense 0.00001073●●●●●●
548. 139390564 c.7627A>G p.M2543V missense 0.00001073●●●●●●
549. 139412709 c.1135A>C p.N379H missense 0.00001072●●●●●●
550. 139401393 c.3676A>C p.N1226H missense 0.00001070●●●●●●
551. 139399492 c.4651A>C p.S1551R missense 0.00001067●●●●●●
552. 139418316 c.256G>A p.A86T missense 0.00001065●●●●●●
553. 139401851 c.3549G>T p.E1183D missense 0.00001064●●●●●●
554. 139401039 c.3954T>A p.N1318K missense 0.00001063●●●●●●
555. 139400204 c.4144G>C p.E1382Q missense 0.00001054●●●●●●
556. 139401389 c.3680C>T p.P1227L missense 0.00001053●●●●●●
557. 139400206 c.4142C>T p.P1381L missense 0.00001052●●●●●●
558. 139405117 c.2728G>A p.D910N missense 0.00001049●●●●●●
559. 139400203 c.4145A>G p.E1382G missense 0.00001049●●●●●●
560. 139418210 c.362C>T p.T121M missense 0.00001047●●●●●●
561. 139405120 c.2725G>C p.D909H missense 0.00001030●●●●●●
562. 139390600 c.7591G>A p.D2531N missense 0.00001026●●●●●●
563. 139400192 c.4156C>T p.P1386S missense 0.00001025●●●●●●
564. 139418309 c.263G>T p.S88I missense 0.00001021●●●●●●
565. 139400188 c.4160C>T p.A1387V missense 0.00001021●●●●●●
566. 139401369 c.3700C>G p.R1234G missense 0.00001016●●●●●●
567. 139418220 c.352G>A p.D118N missense 0.00001008●●●●●●
568. 139399846 c.4502G>C p.S1501T missense 0.00001003●●●●●●
569. 139401359 c.3710A>G p.K1237R missense 0.00001001●●●●●●
570. 139409075 c.2094T>G p.N698K missense 0.00000991●●●●●●
571. 139401328 c.3741G>C p.Q1247H missense 0.00000985●●●●●●
572. 139400170 c.4178G>A p.G1393D missense 0.00000984●●●●●●
573. 139405718 c.2473A>G p.T825A missense 0.00000972●●●●●●
574. 139401272 c.3797G>A p.G1266E missense 0.00000968●●●●●●
575. 139401302 c.3767C>A p.P1256Q missense 0.00000966●●●●●●
576. 139401281 c.3788G>A p.R1263H missense 0.00000965●●●●●●
577. 139405717 c.2474C>T p.T825M missense 0.00000962●●●●●●
578. 139418286 c.286C>G p.P96A missense 0.00000962●●●●●●
579. 139399852 c.4496A>C p.Y1499S missense 0.00000960●●●●●●
580. 139399516 c.4627G>A p.G1543R missense 0.00000960●●●●●●
581. 139399546 c.4597G>A p.D1533N missense 0.00000958●●●●●●
582. 139409146 c.2023T>C p.C675R missense 0.00000953●●●●●●
583. 139396842 c.5266C>G p.L1756V missense 0.00000951●●●●●●
584. 139409088 c.2081A>C p.E694A missense 0.00000945●●●●●●
585. 139418273 c.299C>T p.T100I missense 0.00000944●●●●●●
586. 139405712 c.2479G>A p.E827K missense 0.00000939●●●●●●
587. 139405170 c.2675G>C p.R892P missense 0.00000938●●●●●●
588. 139400143 c.4205C>T p.T1402I missense 0.00000938●●●●●●
589. 139391982 c.6209G>A p.R2070Q missense 0.00000938●●●●●●
590. 139405170 c.2675G>A p.R892H missense 0.00000938●●●●●●
591. 139405140 c.2705G>A p.R902H missense 0.00000937●●●●●●
592. 139391424 c.6767C>T p.A2256V missense 0.00000937●●●●●●
593. 139391410 c.6781G>T p.G2261C missense 0.00000935●●●●●●
594. 139391421 c.6770C>T p.A2257V missense 0.00000934●●●●●●
595. 139391421 c.6770C>G p.A2257G missense 0.00000934●●●●●●
596. 139391418 c.6773T>C p.L2258P missense 0.00000933●●●●●●
597. 139391422 c.6769G>A p.A2257T missense 0.00000933●●●●●●
598. 139409136 c.2033A>G p.N678S missense 0.00000932●●●●●●
599. 139396836 c.5272C>G p.R1758G missense 0.00000929●●●●●●
600. 139409094 c.2075C>A p.T692N missense 0.00000929●●●●●●
601. 139395255 c.5683C>G p.L1895V missense 0.00000929●●●●●●
602. 139409131 c.2038G>A p.D680N missense 0.00000928●●●●●●
603. 139390887 c.7304G>A p.S2435N missense 0.00000926●●●●●●
604. 139400132 c.4216A>T p.T1406S missense 0.00000925●●●●●●
605. 139400131 c.4217C>T p.T1406I missense 0.00000924●●●●●●
606. 139391398 c.6793G>A p.A2265T missense 0.00000923●●●●●●
607. 139409101 c.2068G>A p.G690R missense 0.00000920●●●●●●
608. 139405709 c.2482G>A p.V828M missense 0.00000918●●●●●●
609. 139396827 c.5281C>T p.R1761W missense 0.00000918●●●●●●
610. 139396826 c.5282G>C p.R1761P missense 0.00000917●●●●●●
611. 139401818 c.3582C>A p.N1194K missense 0.00000909●●●●●●
612. 139405153 c.2692G>A p.G898S missense 0.00000903●●●●●●
613. 139400036 c.4312C>T p.R1438C missense 0.00000902●●●●●●
614. 139400027 c.4321C>T p.P1441S missense 0.00000896●●●●●●
615. 139400023 c.4325C>T p.P1442L missense 0.00000894●●●●●●
616. 139400023 c.4325C>G p.P1442R missense 0.00000894●●●●●●
617. 139400092 c.4256A>C p.K1419T missense 0.00000893●●●●●●
618. 139396803 c.5305T>G p.F1769V missense 0.00000892●●●●●●
619. 139413064 c.1078G>A p.E360K missense 0.00000890●●●●●●
620. 139391468 c.6723C>G p.H2241Q missense 0.00000888●●●●●●
621. 139410000 c.1838G>A p.R613H missense 0.00000887●●●●●●
622. 139407481 c.2459C>A p.P820H missense 0.00000883●●●●●●
623. 139407481 c.2459C>T p.P820L missense 0.00000883●●●●●●
624. 139391796 c.6395C>T p.T2132M missense 0.00000877●●●●●●
625. 139391784 c.6407C>T p.S2136L missense 0.00000876●●●●●●
626. 139391778 c.6413C>T p.P2138L missense 0.00000876●●●●●●
627. 139391480 c.6711G>A p.M2237I missense 0.00000875●●●●●●
628. 139405690 c.2501C>T p.A834V missense 0.00000873●●●●●●
629. 139413202 c.940A>G p.N314D missense 0.00000873●●●●●●
630. 139391767 c.6424C>T p.P2142S missense 0.00000872●●●●●●
631. 139405688 c.2503C>T p.P835S missense 0.00000872●●●●●●
632. 139390941 c.7250C>A p.P2417Q missense 0.00000871●●●●●●
633. 139399870 c.4478C>G p.S1493C missense 0.00000871●●●●●●
634. 139390941 c.7250C>G p.P2417R missense 0.00000871●●●●●●
635. 139391826 c.6365C>T p.P2122L missense 0.00000871●●●●●●
636. 139396222 c.5616G>A p.M1872I missense 0.00000870●●●●●●
637. 139391829 c.6362G>A p.S2121N missense 0.00000870●●●●●●
638. 139401799 c.3601C>T p.L1201F missense 0.00000869●●●●●●
639. 139396223 c.5615T>C p.M1872T missense 0.00000869●●●●●●
640. 139395240 c.5698A>G p.S1900G missense 0.00000869●●●●●●
641. 139391832 c.6359G>A p.R2120H missense 0.00000869●●●●●●
642. 139413103 c.1039G>C p.G347R missense 0.00000869●●●●●●
643. 139395237 c.5701G>A p.E1901K missense 0.00000868●●●●●●
644. 139391751 c.6440G>T p.G2147V missense 0.00000868●●●●●●
645. 139402591 c.3326G>C p.G1109A missense 0.00000867●●●●●●
646. 139405204 c.2641G>A p.G881S missense 0.00000867●●●●●●
647. 139390936 c.7255C>A p.L2419I missense 0.00000866●●●●●●
648. 139405205 c.2640C>G p.H880Q missense 0.00000866●●●●●●
649. 139402589 c.3328G>A p.V1110I missense 0.00000866●●●●●●
650. 139391841 c.6350A>C p.N2117T missense 0.00000865●●●●●●
651. 139391844 c.6347A>G p.Y2116C missense 0.00000865●●●●●●
652. 139413106 c.1036C>T p.H346Y missense 0.00000865●●●●●●
653. 139391847 c.6344A>T p.E2115V missense 0.00000864●●●●●●
654. 139391344 c.6847A>G p.S2283G missense 0.00000863●●●●●●
655. 139405209 c.2636G>T p.R879L missense 0.00000863●●●●●●
656. 139405684 c.2507G>A p.S836N missense 0.00000861●●●●●●
657. 139391899 c.6292C>T p.R2098C missense 0.00000861●●●●●●
658. 139405217 c.2628C>A p.S876R missense 0.00000860●●●●●●
659. 139391737 c.6454G>T p.G2152C missense 0.00000860●●●●●●
660. 139391545 c.6646C>T p.P2216S missense 0.00000860●●●●●●
661. 139391878 c.6313A>G p.M2105V missense 0.00000860●●●●●●
662. 139396245 c.5593G>T p.G1865C missense 0.00000860●●●●●●
663. 139405681 c.2510C>G p.P837R missense 0.00000859●●●●●●
664. 139391877 c.6314T>C p.M2105T missense 0.00000859●●●●●●
665. 139391875 c.6316C>T p.H2106Y missense 0.00000859●●●●●●
666. 139396253 c.5585C>T p.P1862L missense 0.00000858●●●●●●
667. 139405228 c.2617T>C p.C873R missense 0.00000858●●●●●●
668. 139405230 c.2615A>C p.E872A missense 0.00000858●●●●●●
669. 139405231 c.2614G>A p.E872K missense 0.00000858●●●●●●
670. 139402567 c.3350A>G p.Q1117R missense 0.00000858●●●●●●
671. 139413084 c.1058G>A p.R353H missense 0.00000858●●●●●●
672. 139391512 c.6679C>T p.P2227S missense 0.00000857●●●●●●
673. 139391320 c.6871G>A p.G2291R missense 0.00000857●●●●●●
674. 139391322 c.6869G>A p.S2290N missense 0.00000857●●●●●●
675. 139402561 c.3356G>A p.G1119E missense 0.00000856●●●●●●
676. 139402561 c.3356G>T p.G1119V missense 0.00000856●●●●●●
677. 139410544 c.1558T>C p.F520L missense 0.00000855●●●●●●
678. 139391725 c.6466A>G p.K2156E missense 0.00000855●●●●●●
679. 139391532 c.6659C>G p.P2220R missense 0.00000855●●●●●●
680. 139391303 c.6888C>A p.F2296L missense 0.00000854●●●●●●
681. 139395021 c.5917G>A p.A1973T missense 0.00000854●●●●●●
682. 139396266 c.5572A>G p.M1858V missense 0.00000854●●●●●●
683. 139391304 c.6887T>C p.F2296S missense 0.00000854●●●●●●
684. 139391307 c.6884A>G p.N2295S missense 0.00000854●●●●●●
685. 139401783 c.3617A>G p.K1206R missense 0.00000853●●●●●●
686. 139391302 c.6889A>G p.T2297A missense 0.00000853●●●●●●
687. 139402544 c.3373G>A p.A1125T missense 0.00000853●●●●●●
688. 139391280 c.6911T>C p.L2304S missense 0.00000852●●●●●●
689. 139396278 c.5560C>T p.R1854C missense 0.00000852●●●●●●
690. 139391266 c.6925G>A p.E2309K missense 0.00000852●●●●●●
691. 139399955 c.4393C>G p.L1465V missense 0.00000852●●●●●●
692. 139395222 c.5716G>C p.A1906P missense 0.00000851●●●●●●
693. 139391218 c.6973C>T p.P2325S missense 0.00000851●●●●●●
694. 139391223 c.6968A>G p.Y2323C missense 0.00000851●●●●●●
695. 139405664 c.2527G>A p.E843K missense 0.00000851●●●●●●
696. 139410438 c.1664C>T p.T555M missense 0.00000851●●●●●●
697. 139391232 c.6959C>T p.P2320L missense 0.00000851●●●●●●
698. 139391697 c.6494G>A p.G2165D missense 0.00000850●●●●●●
699. 139402532 c.3385C>T p.H1129Y missense 0.00000850●●●●●●
700. 139391199 c.6992C>T p.A2331V missense 0.00000850●●●●●●
701. 139391700 c.6491A>G p.K2164R missense 0.00000850●●●●●●
702. 139391190 c.7001C>A p.P2334H missense 0.00000849●●●●●●
703. 139391175 c.7016C>T p.A2339V missense 0.00000849●●●●●●
704. 139395216 c.5722G>T p.A1908S missense 0.00000849●●●●●●
705. 139402529 c.3388C>G p.H1130D missense 0.00000849●●●●●●
706. 139407499 c.2441A>G p.K814R missense 0.00000849●●●●●●
707. 139391191 c.7000C>T p.P2334S missense 0.00000849●●●●●●
708. 139402523 c.3394C>T p.R1132C missense 0.00000848●●●●●●
709. 139391686 c.6505G>A p.G2169R missense 0.00000848●●●●●●
710. 139397646 c.5155G>A p.E1719K missense 0.00000848●●●●●●
711. 139395038 c.5900C>T p.A1967V missense 0.00000848●●●●●●
712. 139410466 c.1636G>A p.G546R missense 0.00000847●●●●●●
713. 139393702 c.5944C>T p.R1982W missense 0.00000847●●●●●●
714. 139391675 c.6516G>T p.E2172D missense 0.00000847●●●●●●
715. 139391655 c.6536G>C p.R2179P missense 0.00000846●●●●●●
716. 139407975 c.2222G>A p.C741Y missense 0.00000846●●●●●●
717. 139405651 c.2540C>T p.S847F missense 0.00000846●●●●●●
718. 139402513 c.3404C>T p.A1135V missense 0.00000846●●●●●●
719. 139393701 c.5945G>A p.R1982Q missense 0.00000846●●●●●●
720. 139391598 c.6593C>T p.S2198L missense 0.00000846●●●●●●
721. 139395204 c.5734G>A p.D1912N missense 0.00000846●●●●●●
722. 139391607 c.6584G>T p.G2195V missense 0.00000845●●●●●●
723. 139410483 c.1619G>A p.G540D missense 0.00000845●●●●●●
724. 139396356 c.5482C>T p.P1828S missense 0.00000845●●●●●●
725. 139410486 c.1616A>G p.N539S missense 0.00000845●●●●●●
726. 139407506 c.2434G>C p.G812R missense 0.00000845●●●●●●
727. 139391649 c.6542A>G p.K2181R missense 0.00000845●●●●●●
728. 139396344 c.5494C>T p.P1832S missense 0.00000845●●●●●●
729. 139410489 c.1613A>G p.K538R missense 0.00000845●●●●●●
730. 139405642 c.2549A>G p.Y850C missense 0.00000844●●●●●●
731. 139412311 c.1334C>T p.T445M missense 0.00000844●●●●●●
732. 139402695 c.3314C>T p.A1105V missense 0.00000844●●●●●●
733. 139402490 c.3427G>A p.E1143K missense 0.00000844●●●●●●
734. 139413135 c.1007T>C p.I336T missense 0.00000844●●●●●●
735. 139412276 c.1369G>A p.V457I missense 0.00000843●●●●●●
736. 139402414 c.3503C>T p.S1168F missense 0.00000843●●●●●●
737. 139412233 c.1412T>C p.I471T missense 0.00000843●●●●●●
738. 139407864 c.2333C>T p.T778I missense 0.00000843●●●●●●
739. 139412255 c.1390G>A p.D464N missense 0.00000843●●●●●●
740. 139412276 c.1369G>T p.V457F missense 0.00000843●●●●●●
741. 139405627 c.2564G>T p.C855F missense 0.00000843●●●●●●
742. 139397678 c.5123C>T p.S1708L missense 0.00000843●●●●●●
743. 139402435 c.3482C>G p.T1161R missense 0.00000842●●●●●●
744. 139407939 c.2258A>G p.N753S missense 0.00000842●●●●●●
745. 139407901 c.2296G>C p.G766R missense 0.00000842●●●●●●
746. 139395084 c.5854G>A p.A1952T missense 0.00000842●●●●●●
747. 139396538 c.5387C>T p.P1796L missense 0.00000842●●●●●●
748. 139407886 c.2311A>G p.M771V missense 0.00000842●●●●●●
749. 139407879 c.2318G>T p.S773I missense 0.00000842●●●●●●
750. 139412266 c.1379C>T p.P460L missense 0.00000842●●●●●●
751. 139395086 c.5852G>A p.S1951N missense 0.00000842●●●●●●
752. 139409751 c.2005G>A p.G669S missense 0.00000842●●●●●●
753. 139413223 c.919C>G p.Q307E missense 0.00000842●●●●●●
754. 139395101 c.5837G>A p.R1946H missense 0.00000842●●●●●●
755. 139402432 c.3485A>G p.D1162G missense 0.00000842●●●●●●
756. 139396538 c.5387C>A p.P1796H missense 0.00000842●●●●●●
757. 139407884 c.2313G>C p.M771I missense 0.00000842●●●●●●
758. 139409754 c.2002C>G p.P668A missense 0.00000841●●●●●●
759. 139396527 c.5398G>A p.A1800T missense 0.00000841●●●●●●
760. 139396454 c.5471G>A p.R1824Q missense 0.00000841●●●●●●
761. 139396455 c.5470C>T p.R1824W missense 0.00000841●●●●●●
762. 139395134 c.5804C>T p.A1935V missense 0.00000841●●●●●●
763. 139402715 c.3294C>A p.S1098R missense 0.00000841●●●●●●
764. 139395120 c.5818C>T p.R1940C missense 0.00000841●●●●●●
765. 139396509 c.5416A>G p.M1806V missense 0.00000840●●●●●●
766. 139391118 c.7073C>T p.A2358V missense 0.00000840●●●●●●
767. 139407581 c.2359A>G p.N787D missense 0.00000840●●●●●●
768. 139402726 c.3283G>A p.D1095N missense 0.00000840●●●●●●
769. 139391119 c.7072G>A p.A2358T missense 0.00000840●●●●●●
770. 139391014 c.7177C>A p.Q2393K missense 0.00000840●●●●●●
771. 139409846 c.1910A>G p.N637S missense 0.00000840●●●●●●
772. 139404203 c.2951C>T p.T984M missense 0.00000840●●●●●●
773. 139396523 c.5402C>T p.S1801L missense 0.00000840●●●●●●
774. 139404212 c.2942A>G p.E981G missense 0.00000840●●●●●●
775. 139409778 c.1978G>A p.D660N missense 0.00000839●●●●●●
776. 139407577 c.2363G>A p.C788Y missense 0.00000839●●●●●●
777. 139396488 c.5437T>G p.W1813G missense 0.00000839●●●●●●
778. 139391077 c.7114C>T p.R2372W missense 0.00000839●●●●●●
779. 139407530 c.2410G>C p.G804R missense 0.00000839●●●●●●
780. 139409772 c.1984T>C p.Y662H missense 0.00000839●●●●●●
781. 139391065 c.7126C>A p.Q2376K missense 0.00000839●●●●●●
782. 139397754 c.5047C>T p.R1683W missense 0.00000839●●●●●●
783. 139391020 c.7171C>G p.Q2391E missense 0.00000839●●●●●●
784. 139393675 c.5971C>T p.R1991C missense 0.00000839●●●●●●
785. 139402740 c.3269C>G p.T1090S missense 0.00000839●●●●●●
786. 139396485 c.5440G>A p.G1814R missense 0.00000839●●●●●●
787. 139391104 c.7087A>G p.M2363V missense 0.00000839●●●●●●
788. 139391104 c.7087A>T p.M2363L missense 0.00000839●●●●●●
789. 139413915 c.845G>A p.R282H missense 0.00000839●●●●●●
790. 139409832 c.1924C>G p.L642V missense 0.00000839●●●●●●
791. 139404233 c.2921G>A p.G974D missense 0.00000838●●●●●●
792. 139409802 c.1954T>C p.S652P missense 0.00000838●●●●●●
793. 139397715 c.5086G>A p.A1696T missense 0.00000838●●●●●●
794. 139413235 c.907C>T p.P303S missense 0.00000838●●●●●●
795. 139413934 c.826G>A p.V276M missense 0.00000838●●●●●●
796. 139391079 c.7112C>T p.T2371I missense 0.00000838●●●●●●
797. 139409811 c.1945C>A p.P649T missense 0.00000838●●●●●●
798. 139413159 c.983C>G p.T328S missense 0.00000838●●●●●●
799. 139407547 c.2393A>G p.N798S missense 0.00000838●●●●●●
800. 139409795 c.1961C>T p.T654I missense 0.00000838●●●●●●
801. 139413159 c.983C>T p.T328I missense 0.00000838●●●●●●
802. 139409801 c.1955C>T p.S652L missense 0.00000838●●●●●●
803. 139414008 c.752G>A p.G251D missense 0.00000838●●●●●●
804. 139402747 c.3262G>C p.G1088R missense 0.00000838●●●●●●
805. 139413234 c.908C>T p.P303L missense 0.00000838●●●●●●
806. 139404264 c.2890G>A p.V964M missense 0.00000837●●●●●●
807. 139413972 c.788G>A p.G263E missense 0.00000837●●●●●●
808. 139413949 c.811G>T p.A271S missense 0.00000837●●●●●●
809. 139413183 c.959A>G p.N320S missense 0.00000837●●●●●●
810. 139404267 c.2887T>C p.C963R missense 0.00000837●●●●●●
811. 139402774 c.3235A>G p.T1079A missense 0.00000837●●●●●●
812. 139413976 c.784C>T p.P262S missense 0.00000837●●●●●●
813. 139413193 c.949G>C p.G317R missense 0.00000837●●●●●●
814. 139404251 c.2903C>T p.T968M missense 0.00000837●●●●●●
815. 139413960 c.800A>G p.K267R missense 0.00000837●●●●●●
816. 139413193 c.949G>A p.G317S missense 0.00000837●●●●●●
817. 139404288 c.2866A>G p.N956D missense 0.00000836●●●●●●
818. 139404319 c.2835C>G p.D945E missense 0.00000836●●●●●●
819. 139402836 c.3173A>C p.N1058T missense 0.00000836●●●●●●
820. 139404333 c.2821T>C p.F941L missense 0.00000836●●●●●●
821. 139404285 c.2869G>A p.G957R missense 0.00000836●●●●●●
822. 139404305 c.2849C>T p.A950V missense 0.00000836●●●●●●
823. 139402833 c.3176T>C p.L1059P missense 0.00000836●●●●●●
824. 139404381 c.2773G>A p.G925S missense 0.00000836●●●●●●
825. 139404348 c.2806G>A p.G936S missense 0.00000836●●●●●●
826. 139404314 c.2840A>G p.N947S missense 0.00000836●●●●●●
827. 139402834 c.3175C>T p.L1059F missense 0.00000836●●●●●●
828. 139402828 c.3181C>T p.H1061Y missense 0.00000835●●●●●●
829. 139402809 c.3200C>T p.P1067L missense 0.00000835●●●●●●
830. 139393581 c.6065A>G p.N2022S missense 0.00000835●●●●●●
831. 139402812 c.3197C>T p.S1066L missense 0.00000835●●●●●●
832. 139393603 c.6043A>G p.I2015V missense 0.00000834●●●●●●
833. 139393591 c.6055G>A p.A2019T missense 0.00000834●●●●●●
834. 139393592 c.6054C>A p.H2018Q missense 0.00000834●●●●●●
835. 139393591 c.6055G>T p.A2019S missense 0.00000834●●●●●●
836. 139393588 c.6058G>A p.D2020N missense 0.00000834●●●●●●
837. 139393601 c.6045C>G p.I2015M missense 0.00000834●●●●●●
838. 139393425 c.6106G>A p.A2036T missense 0.00000831●●●●●●
839. 139393397 c.6134T>C p.V2045A missense 0.00000831●●●●●●
840. 139393412 c.6119A>G p.N2040S missense 0.00000831●●●●●●

* 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.