TNRC18 missense variants in ExAC

TNRC18 gene summary
TNRC18 variants in

The table below lists the TNRC18 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. 5427720 c.1735T>C p.S579P missense 0.99758627●●●●●●
2. 5410425 c.3800C>G p.A1267G missense 0.46660840●●●●●●
3. 5396715 c.5026A>G p.N1676D missense 0.43083499●●●●●●
4. 5391702 c.5218G>C p.E1740Q missense 0.19363033●●●●●●
5. 5352949 c.7573C>G p.L2525V missense 0.13394670●●●●●●
6. 5353344 c.7178C>T p.P2393L missense 0.11866149●●●●●●
7. 5434107 c.307C>T p.P103S missense 0.03189318●●●●●●
8. 5427950 c.1505C>T p.P502L missense 0.02966378●●●●●●
9. 5353252 c.7270C>G p.P2424A missense 0.01771725●●●●●●
10. 5413923 c.2992G>A p.A998T missense 0.01619718●●●●●●
11. 5428287 c.1168A>G p.I390V missense 0.00769231●●●●●●
12. 5353449 c.7073C>G p.P2358R missense 0.00748069●●●●●●
13. 5417170 c.2293C>T p.P765S missense 0.00725309●●●●●●
14. 5410013 c.4212G>C p.E1404D missense 0.00711297●●●●●●
15. 5372626 c.5774C>G p.S1925W missense 0.00663140●●●●●●
16. 5402432 c.4244G>A p.R1415Q missense 0.00661363●●●●●●
17. 5372564 c.5836C>A p.P1946T missense 0.00643980●●●●●●
18. 5364777 c.6250G>A p.A2084T missense 0.00640896●●●●●●
19. 5372303 c.6097A>G p.S2033G missense 0.00552447●●●●●●
20. 5428698 c.757C>T p.R253W missense 0.00543478●●●●●●
21. 5399075 c.4787A>C p.N1596T missense 0.00412354●●●●●●
22. 5353003 c.7519G>A p.A2507T missense 0.00387566●●●●●●
23. 5402453 c.4223C>T p.A1408V missense 0.00355916●●●●●●
24. 5372636 c.5764C>T p.R1922C missense 0.00265226●●●●●●
25. 5410365 c.3860C>T p.S1287F missense 0.00263042●●●●●●
26. 5352403 c.8119G>A p.A2707T missense 0.00251639●●●●●●
27. 5372314 c.6086G>T p.G2029V missense 0.00243363●●●●●●
28. 5428622 c.833C>T p.P278L missense 0.00213344●●●●●●
29. 5410501 c.3724G>A p.A1242T missense 0.00207828●●●●●●
30. 5427582 c.1873C>G p.P625A missense 0.00196989●●●●●●
31. 5352817 c.7705A>G p.S2569G missense 0.00188022●●●●●●
32. 5402367 c.4309G>A p.V1437M missense 0.00186040●●●●●●
33. 5401241 c.4645G>A p.G1549S missense 0.00185902●●●●●●
34. 5348767 c.8621G>A p.G2874D missense 0.00184969●●●●●●
35. 5428556 c.899C>T p.A300V missense 0.00183824●●●●●●
36. 5410695 c.3530C>T p.S1177L missense 0.00149275●●●●●●
37. 5427369 c.2086G>T p.G696C missense 0.00145909●●●●●●
38. 5352439 c.8083G>A p.A2695T missense 0.00143695●●●●●●
39. 5352439 c.8083G>T p.A2695S missense 0.00141700●●●●●●
40. 5352430 c.8092G>A p.A2698T missense 0.00133449●●●●●●
41. 5355631 c.6818C>T p.P2273L missense 0.00125881●●●●●●
42. 5353450 c.7072C>A p.P2358T missense 0.00110912●●●●●●
43. 5428014 c.1441G>T p.G481C missense 0.00110475●●●●●●
44. 5427452 c.2003G>T p.G668V missense 0.00109516●●●●●●
45. 5353035 c.7487A>G p.K2496R missense 0.00101707●●●●●●
46. 5428497 c.958C>T p.R320C missense 0.00097276●●●●●●
47. 5410697 c.3528G>C p.E1176D missense 0.00093049●●●●●●
48. 5428871 c.584C>T p.P195L missense 0.00091785●●●●●●
49. 5402433 c.4243C>G p.R1415G missense 0.00091057●●●●●●
50. 5410137 c.4088C>G p.A1363G missense 0.00084548●●●●●●
51. 5428958 c.497A>G p.Y166C missense 0.00084222●●●●●●
52. 5372449 c.5951C>T p.A1984V missense 0.00082237●●●●●●
53. 5401564 c.4496G>A p.R1499H missense 0.00080257●●●●●●
54. 5401346 c.4540C>T p.R1514C missense 0.00079316●●●●●●
55. 5410791 c.3434G>A p.R1145Q missense 0.00076343●●●●●●
56. 5410137 c.4088C>T p.A1363V missense 0.00074601●●●●●●
57. 5416532 c.2554G>A p.D852N missense 0.00072957●●●●●●
58. 5417106 c.2357C>T p.A786V missense 0.00071899●●●●●●
59. 5428639 c.816G>T p.K272N missense 0.00071361●●●●●●
60. 5428107 c.1348A>G p.T450A missense 0.00071056●●●●●●
61. 5434080 c.334G>A p.A112T missense 0.00062775●●●●●●
62. 5413968 c.2947G>C p.A983P missense 0.00062344●●●●●●
63. 5413967 c.2948C>T p.A983V missense 0.00062267●●●●●●
64. 5413974 c.2941G>A p.G981S missense 0.00058548●●●●●●
65. 5399045 c.4817C>T p.S1606L missense 0.00055478●●●●●●
66. 5352462 c.8060C>A p.P2687H missense 0.00055321●●●●●●
67. 5352564 c.7958C>T p.S2653F missense 0.00054054●●●●●●
68. 5385432 c.5480C>T p.S1827L missense 0.00052862●●●●●●
69. 5413997 c.2918G>A p.R973Q missense 0.00052854●●●●●●
70. 5413851 c.3064G>A p.A1022T missense 0.00052549●●●●●●
71. 5428802 c.653C>T p.P218L missense 0.00051573●●●●●●
72. 5427524 c.1931C>A p.A644E missense 0.00050265●●●●●●
73. 5385271 c.5641G>T p.V1881L missense 0.00048977●●●●●●
74. 5413806 c.3109G>T p.A1037S missense 0.00048497●●●●●●
75. 5413806 c.3109G>A p.A1037T missense 0.00048497●●●●●●
76. 5353003 c.7519G>C p.A2507P missense 0.00048446●●●●●●
77. 5402292 c.4384A>G p.K1462E missense 0.00046653●●●●●●
78. 5428880 c.575C>T p.S192L missense 0.00046041●●●●●●
79. 5428851 c.604C>T p.R202W missense 0.00043956●●●●●●
80. 5410386 c.3839C>T p.A1280V missense 0.00042457●●●●●●
81. 5391615 c.5305A>G p.S1769G missense 0.00040635●●●●●●
82. 5352938 c.7584G>T p.E2528D missense 0.00039453●●●●●●
83. 5413842 c.3073G>A p.A1025T missense 0.00038880●●●●●●
84. 5413956 c.2959G>A p.G987S missense 0.00037850●●●●●●
85. 5413811 c.3104C>T p.P1035L missense 0.00037064●●●●●●
86. 5427374 c.2081G>C p.S694T missense 0.00034536●●●●●●
87. 5428094 c.1361C>T p.P454L missense 0.00034060●●●●●●
88. 5413782 c.3133A>G p.I1045V missense 0.00033801●●●●●●
89. 5347762 c.8882C>T p.T2961M missense 0.00033052●●●●●●
90. 5427904 c.1551C>A p.N517K missense 0.00032957●●●●●●
91. 5428779 c.676C>T p.R226C missense 0.00031526●●●●●●
92. 5372635 c.5765G>A p.R1922H missense 0.00030082●●●●●●
93. 5413947 c.2968G>A p.V990M missense 0.00028329●●●●●●
94. 5353444 c.7078A>T p.T2360S missense 0.00028244●●●●●●
95. 5353161 c.7361C>T p.P2454L missense 0.00028024●●●●●●
96. 5417061 c.2402C>T p.T801M missense 0.00027388●●●●●●
97. 5410592 c.3633G>C p.Q1211H missense 0.00027368●●●●●●
98. 5410552 c.3673G>A p.G1225R missense 0.00026577●●●●●●
99. 5410674 c.3551C>T p.A1184V missense 0.00026152●●●●●●
100. 5413943 c.2972G>A p.S991N missense 0.00026110●●●●●●
101. 5415855 c.2609C>T p.A870V missense 0.00025983●●●●●●
102. 5410443 c.3782C>T p.P1261L missense 0.00025958●●●●●●
103. 5428794 c.661G>A p.G221S missense 0.00025826●●●●●●
104. 5399048 c.4814C>T p.S1605L missense 0.00025669●●●●●●
105. 5460733 c.145C>T p.P49S missense 0.00025432●●●●●●
106. 5414027 c.2888T>C p.L963P missense 0.00025183●●●●●●
107. 5352964 c.7558G>A p.A2520T missense 0.00024978●●●●●●
108. 5417041 c.2422T>A p.S808T missense 0.00024665●●●●●●
109. 5428527 c.928C>T p.R310W missense 0.00024178●●●●●●
110. 5428916 c.539C>T p.A180V missense 0.00024166●●●●●●
111. 5415667 c.2797G>A p.V933M missense 0.00024136●●●●●●
112. 5427731 c.1724C>T p.A575V missense 0.00023935●●●●●●
113. 5352168 c.8354G>A p.R2785Q missense 0.00023597●●●●●●
114. 5428872 c.583C>G p.P195A missense 0.00023159●●●●●●
115. 5428875 c.580G>C p.A194P missense 0.00023137●●●●●●
116. 5427957 c.1498C>T p.R500C missense 0.00023051●●●●●●
117. 5427779 c.1676C>T p.P559L missense 0.00023049●●●●●●
118. 5402358 c.4318C>G p.P1440A missense 0.00023029●●●●●●
119. 5427558 c.1897G>T p.A633S missense 0.00022777●●●●●●
120. 5414016 c.2899G>A p.G967S missense 0.00022758●●●●●●
121. 5352694 c.7828G>A p.A2610T missense 0.00022519●●●●●●
122. 5353447 c.7075A>G p.S2359G missense 0.00022387●●●●●●
123. 5414087 c.2828G>A p.R943Q missense 0.00021626●●●●●●
124. 5399082 c.4780G>T p.G1594W missense 0.00021529●●●●●●
125. 5413876 c.3039G>T p.E1013D missense 0.00021515●●●●●●
126. 5428857 c.598T>C p.S200P missense 0.00021331●●●●●●
127. 5410464 c.3761T>C p.L1254P missense 0.00020859●●●●●●
128. 5413775 c.3140G>A p.R1047H missense 0.00020715●●●●●●
129. 5417647 c.2161C>G p.R721G missense 0.00020524●●●●●●
130. 5430253 c.350C>G p.S117C missense 0.00020296●●●●●●
131. 5460725 c.153G>T p.K51N missense 0.00020088●●●●●●
132. 5430230 c.373C>T p.P125S missense 0.00019595●●●●●●
133. 5401292 c.4594C>T p.R1532W missense 0.00019301●●●●●●
134. 5417609 c.2199C>A p.H733Q missense 0.00019300●●●●●●
135. 5427467 c.1988C>T p.A663V missense 0.00019274●●●●●●
136. 5427647 c.1808G>A p.R603H missense 0.00018003●●●●●●
137. 5428938 c.517C>G p.P173A missense 0.00017637●●●●●●
138. 5402282 c.4394G>A p.R1465Q missense 0.00017501●●●●●●
139. 5402448 c.4228C>T p.R1410W missense 0.00017315●●●●●●
140. 5402315 c.4361A>G p.K1454R missense 0.00016861●●●●●●
141. 5354630 c.7012G>A p.A2338T missense 0.00016769●●●●●●
142. 5427575 c.1880C>T p.S627F missense 0.00016353●●●●●●
143. 5415832 c.2632G>A p.V878I missense 0.00016119●●●●●●
144. 5352552 c.7970C>T p.S2657F missense 0.00015985●●●●●●
145. 5352450 c.8072C>T p.A2691V missense 0.00015658●●●●●●
146. 5428089 c.1366C>A p.P456T missense 0.00014863●●●●●●
147. 5352546 c.7976C>T p.S2659F missense 0.00014793●●●●●●
148. 5347942 c.8702G>A p.R2901H missense 0.00014704●●●●●●
149. 5354619 c.7023G>T p.K2341N missense 0.00014691●●●●●●
150. 5348559 c.8647C>T p.R2883C missense 0.00014111●●●●●●
151. 5347801 c.8843C>T p.A2948V missense 0.00013891●●●●●●
152. 5428967 c.488A>G p.D163G missense 0.00013351●●●●●●
153. 5402358 c.4318C>T p.P1440S missense 0.00013160●●●●●●
154. 5410732 c.3493A>G p.M1165V missense 0.00013157●●●●●●
155. 5416522 c.2564C>T p.S855L missense 0.00012934●●●●●●
156. 5401259 c.4627C>A p.R1543S missense 0.00012895●●●●●●
157. 5353234 c.7288A>C p.M2430L missense 0.00012269●●●●●●
158. 5352850 c.7672G>A p.E2558K missense 0.00012249●●●●●●
159. 5427991 c.1464A>C p.Q488H missense 0.00012070●●●●●●
160. 5385230 c.5682G>C p.Q1894H missense 0.00011919●●●●●●
161. 5415828 c.2636C>T p.P879L missense 0.00011632●●●●●●
162. 5401267 c.4619C>T p.S1540L missense 0.00011422●●●●●●
163. 5391569 c.5351C>G p.A1784G missense 0.00011410●●●●●●
164. 5391572 c.5348C>T p.A1783V missense 0.00011374●●●●●●
165. 5354677 c.6965C>T p.S2322L missense 0.00011328●●●●●●
166. 5353005 c.7517C>T p.P2506L missense 0.00011185●●●●●●
167. 5399119 c.4743G>T p.E1581D missense 0.00010764●●●●●●
168. 5372418 c.5982G>C p.W1994C missense 0.00010716●●●●●●
169. 5417032 c.2431G>A p.A811T missense 0.00010587●●●●●●
170. 5372512 c.5888T>C p.L1963P missense 0.00010555●●●●●●
171. 5401540 c.4520G>A p.R1507H missense 0.00010481●●●●●●
172. 5372408 c.5992C>T p.R1998C missense 0.00010397●●●●●●
173. 5410558 c.3667G>A p.V1223M missense 0.00010267●●●●●●
174. 5353009 c.7513C>G p.P2505A missense 0.00010242●●●●●●
175. 5353318 c.7204G>A p.A2402T missense 0.00010148●●●●●●
176. 5347827 c.8817G>C p.Q2939H missense 0.00010131●●●●●●
177. 5401282 c.4604C>T p.A1535V missense 0.00010106●●●●●●
178. 5417590 c.2218G>A p.G740R missense 0.00010074●●●●●●
179. 5434220 c.194C>A p.A65D missense 0.00009947●●●●●●
180. 5353222 c.7300C>T p.R2434C missense 0.00009861●●●●●●
181. 5413799 c.3116C>T p.P1039L missense 0.00009835●●●●●●
182. 5352460 c.8062G>A p.A2688T missense 0.00009730●●●●●●
183. 5401541 c.4519C>T p.R1507C missense 0.00009688●●●●●●
184. 5372528 c.5872C>G p.P1958A missense 0.00009529●●●●●●
185. 5396866 c.4875G>C p.Q1625H missense 0.00009512●●●●●●
186. 5352997 c.7525G>A p.G2509S missense 0.00009349●●●●●●
187. 5414042 c.2873C>A p.A958E missense 0.00009311●●●●●●
188. 5428049 c.1406A>C p.E469A missense 0.00009191●●●●●●
189. 5417118 c.2345G>A p.G782D missense 0.00008943●●●●●●
190. 5402298 c.4378C>T p.R1460C missense 0.00008938●●●●●●
191. 5348546 c.8660C>T p.A2887V missense 0.00008922●●●●●●
192. 5417112 c.2351C>T p.A784V missense 0.00008845●●●●●●
193. 5410756 c.3469G>C p.E1157Q missense 0.00008821●●●●●●
194. 5401345 c.4541G>A p.R1514H missense 0.00008794●●●●●●
195. 5417124 c.2339C>T p.T780M missense 0.00008703●●●●●●
196. 5354686 c.6956C>T p.T2319M missense 0.00008697●●●●●●
197. 5391650 c.5270C>T p.T1757M missense 0.00008476●●●●●●
198. 5416585 c.2501C>T p.A834V missense 0.00008425●●●●●●
199. 5372344 c.6056C>G p.P2019R missense 0.00008275●●●●●●
200. 5417077 c.2386G>A p.A796T missense 0.00008187●●●●●●
201. 5347802 c.8842G>A p.A2948T missense 0.00008137●●●●●●
202. 5385207 c.5705G>A p.R1902Q missense 0.00007852●●●●●●
203. 5372620 c.5780C>T p.A1927V missense 0.00007851●●●●●●
204. 5348558 c.8648G>A p.R2883H missense 0.00007807●●●●●●
205. 5427807 c.1648G>A p.A550T missense 0.00007756●●●●●●
206. 5410585 c.3640G>A p.A1214T missense 0.00007695●●●●●●
207. 5410951 c.3274G>A p.G1092R missense 0.00007635●●●●●●
208. 5372326 c.6074G>A p.R2025H missense 0.00007630●●●●●●
209. 5401242 c.4644C>G p.S1548R missense 0.00007588●●●●●●
210. 5354641 c.7001G>A p.R2334Q missense 0.00007501●●●●●●
211. 5410471 c.3754G>A p.E1252K missense 0.00007497●●●●●●
212. 5427810 c.1645A>G p.K549E missense 0.00007440●●●●●●
213. 5410390 c.3835C>G p.L1279V missense 0.00007291●●●●●●
214. 5353174 c.7348G>T p.G2450C missense 0.00007271●●●●●●
215. 5414087 c.2828G>T p.R943L missense 0.00007209●●●●●●
216. 5410905 c.3320C>G p.A1107G missense 0.00007205●●●●●●
217. 5414099 c.2816C>T p.A939V missense 0.00007147●●●●●●
218. 5415817 c.2647C>T p.P883S missense 0.00007074●●●●●●
219. 5352706 c.7816A>C p.S2606R missense 0.00007049●●●●●●
220. 5410665 c.3560T>C p.M1187T missense 0.00006936●●●●●●
221. 5372563 c.5837C>T p.P1946L missense 0.00006887●●●●●●
222. 5385351 c.5561G>A p.R1854Q missense 0.00006872●●●●●●
223. 5415814 c.2650G>A p.A884T missense 0.00006831●●●●●●
224. 5352727 c.7795G>A p.G2599S missense 0.00006816●●●●●●
225. 5353456 c.7066G>A p.E2356K missense 0.00006812●●●●●●
226. 5410884 c.3341T>G p.V1114G missense 0.00006810●●●●●●
227. 5402366 c.4310T>C p.V1437A missense 0.00006794●●●●●●
228. 5348935 c.8453T>G p.M2818R missense 0.00006771●●●●●●
229. 5410188 c.4037C>T p.A1346V missense 0.00006710●●●●●●
230. 5401258 c.4628G>A p.R1543H missense 0.00006643●●●●●●
231. 5428002 c.1453C>G p.P485A missense 0.00006626●●●●●●
232. 5352946 c.7576G>A p.A2526T missense 0.00006615●●●●●●
233. 5352936 c.7586C>T p.P2529L missense 0.00006577●●●●●●
234. 5372285 c.6115G>A p.G2039R missense 0.00006569●●●●●●
235. 5415805 c.2659C>A p.P887T missense 0.00006567●●●●●●
236. 5372569 c.5831C>T p.A1944V missense 0.00006551●●●●●●
237. 5352933 c.7589G>A p.G2530E missense 0.00006550●●●●●●
238. 5352930 c.7592C>T p.P2531L missense 0.00006545●●●●●●
239. 5427765 c.1690A>T p.T564S missense 0.00006497●●●●●●
240. 5352955 c.7567G>A p.G2523R missense 0.00006390●●●●●●
241. 5385339 c.5573C>T p.P1858L missense 0.00006383●●●●●●
242. 5352751 c.7771G>A p.G2591R missense 0.00006373●●●●●●
243. 5428022 c.1433C>T p.A478V missense 0.00006366●●●●●●
244. 5352958 c.7564G>A p.D2522N missense 0.00006353●●●●●●
245. 5402355 c.4321C>T p.L1441F missense 0.00006316●●●●●●
246. 5410915 c.3310G>A p.A1104T missense 0.00006280●●●●●●
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262. 5353020 c.7502T>C p.L2501P missense 0.00005872●●●●●●
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270. 5385241 c.5671G>C p.E1891Q missense 0.00005628●●●●●●
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283. 5401274 c.4612G>A p.A1538T missense 0.00005461●●●●●●
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285. 5410758 c.3467G>A p.R1156Q missense 0.00005297●●●●●●
286. 5352451 c.8071G>A p.A2691T missense 0.00005238●●●●●●
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288. 5364861 c.6166G>T p.A2056S missense 0.00005162●●●●●●
289. 5401279 c.4607C>T p.P1536L missense 0.00005157●●●●●●
290. 5396579 c.5162C>T p.P1721L missense 0.00005135●●●●●●
291. 5353374 c.7148G>A p.R2383Q missense 0.00005115●●●●●●
292. 5427688 c.1767A>G p.I589M missense 0.00005045●●●●●●
293. 5401283 c.4603G>A p.A1535T missense 0.00005041●●●●●●
294. 5364779 c.6248C>T p.T2083I missense 0.00005038●●●●●●
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296. 5415705 c.2759C>T p.A920V missense 0.00005014●●●●●●
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300. 5427945 c.1510A>G p.T504A missense 0.00004944●●●●●●
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303. 5410140 c.4085C>T p.A1362V missense 0.00004813●●●●●●
304. 5352996 c.7526G>C p.G2509A missense 0.00004789●●●●●●
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309. 5410369 c.3856G>A p.E1286K missense 0.00004721●●●●●●
310. 5410989 c.3236C>T p.P1079L missense 0.00004711●●●●●●
311. 5352997 c.7525G>C p.G2509R missense 0.00004675●●●●●●
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313. 5427792 c.1663G>C p.G555R missense 0.00004659●●●●●●
314. 5348511 c.8695A>G p.M2899V missense 0.00004577●●●●●●
315. 5396609 c.5132C>T p.A1711V missense 0.00004568●●●●●●
316. 5427987 c.1468G>A p.A490T missense 0.00004567●●●●●●
317. 5427665 c.1790G>T p.R597L missense 0.00004504●●●●●●
318. 5417007 c.2456C>T p.P819L missense 0.00004489●●●●●●
319. 5410146 c.4079C>T p.P1360L missense 0.00004477●●●●●●
320. 5410782 c.3443C>T p.P1148L missense 0.00004472●●●●●●
321. 5391545 c.5375C>T p.P1792L missense 0.00004455●●●●●●
322. 5410969 c.3256G>T p.A1086S missense 0.00004451●●●●●●
323. 5396672 c.5069C>T p.S1690F missense 0.00004422●●●●●●
324. 5427797 c.1658A>C p.D553A missense 0.00004422●●●●●●
325. 5396675 c.5066A>T p.K1689I missense 0.00004421●●●●●●
326. 5353326 c.7196C>T p.A2399V missense 0.00004375●●●●●●
327. 5396733 c.5008G>A p.D1670N missense 0.00004364●●●●●●
328. 5427984 c.1471G>A p.A491T missense 0.00004345●●●●●●
329. 5396741 c.5000C>A p.T1667N missense 0.00004332●●●●●●
330. 5416588 c.2498C>G p.P833R missense 0.00004321●●●●●●
331. 5413796 c.3119C>T p.P1040L missense 0.00004311●●●●●●
332. 5347754 c.8890G>A p.V2964M missense 0.00004280●●●●●●
333. 5415841 c.2623C>T p.R875W missense 0.00004278●●●●●●
334. 5372611 c.5789T>A p.L1930Q missense 0.00004259●●●●●●
335. 5391663 c.5257A>C p.S1753R missense 0.00004256●●●●●●
336. 5415850 c.2614C>G p.L872V missense 0.00004247●●●●●●
337. 5347757 c.8887G>A p.G2963S missense 0.00004231●●●●●●
338. 5391627 c.5293G>A p.V1765M missense 0.00004226●●●●●●
339. 5401544 c.4516C>T p.R1506C missense 0.00004189●●●●●●
340. 5410327 c.3898G>A p.A1300T missense 0.00004173●●●●●●
341. 5353002 c.7520C>T p.A2507V missense 0.00004128●●●●●●
342. 5427549 c.1906C>T p.R636C missense 0.00004128●●●●●●
343. 5410908 c.3317A>C p.D1106A missense 0.00004116●●●●●●
344. 5434119 c.295C>G p.P99A missense 0.00004108●●●●●●
345. 5427803 c.1652A>C p.Y551S missense 0.00004086●●●●●●
346. 5396759 c.4982G>A p.G1661D missense 0.00004082●●●●●●
347. 5427536 c.1919C>G p.S640C missense 0.00004060●●●●●●
348. 5415832 c.2632G>T p.V878L missense 0.00004030●●●●●●
349. 5396763 c.4978G>A p.G1660R missense 0.00003973●●●●●●
350. 5434130 c.284G>T p.R95L missense 0.00003957●●●●●●
351. 5427527 c.1928C>T p.P643L missense 0.00003942●●●●●●
352. 5353085 c.7437G>C p.E2479D missense 0.00003938●●●●●●
353. 5427852 c.1603G>T p.A535S missense 0.00003922●●●●●●
354. 5402409 c.4267G>A p.A1423T missense 0.00003916●●●●●●
355. 5410882 c.3343C>T p.P1115S missense 0.00003896●●●●●●
356. 5434132 c.282C>A p.F94L missense 0.00003851●●●●●●
357. 5402406 c.4270G>C p.A1424P missense 0.00003848●●●●●●
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359. 5427809 c.1646A>C p.K549T missense 0.00003757●●●●●●
360. 5354642 c.7000C>T p.R2334W missense 0.00003728●●●●●●
361. 5415825 c.2639C>T p.P880L missense 0.00003721●●●●●●
362. 5396771 c.4970A>C p.K1657T missense 0.00003702●●●●●●
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364. 5410093 c.4132G>T p.V1378F missense 0.00003652●●●●●●
365. 5410482 c.3743A>G p.Q1248R missense 0.00003651●●●●●●
366. 5410825 c.3400C>T p.R1134C missense 0.00003649●●●●●●
367. 5427884 c.1571C>T p.A524V missense 0.00003644●●●●●●
368. 5410486 c.3739G>T p.V1247L missense 0.00003632●●●●●●
369. 5410417 c.3808G>A p.V1270M missense 0.00003629●●●●●●
370. 5354654 c.6988C>T p.R2330C missense 0.00003587●●●●●●
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372. 5417017 c.2446G>A p.A816T missense 0.00003539●●●●●●
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377. 5416564 c.2522G>A p.G841D missense 0.00003494●●●●●●
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403. 5353013 c.7509C>G p.S2503R missense 0.00003230●●●●●●
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414. 5427824 c.1631C>T p.A544V missense 0.00003155●●●●●●
415. 5353056 c.7466C>T p.A2489V missense 0.00003143●●●●●●
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431. 5372645 c.5755G>C p.V1919L missense 0.00003034●●●●●●
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437. 5417088 c.2375C>T p.S792F missense 0.00002933●●●●●●
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442. 5417086 c.2377G>A p.A793T missense 0.00002880●●●●●●
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444. 5427869 c.1586A>C p.Q529P missense 0.00002839●●●●●●
445. 5402321 c.4355C>G p.P1452R missense 0.00002833●●●●●●
446. 5417179 c.2284C>T p.R762C missense 0.00002818●●●●●●
447. 5427954 c.1501C>A p.P501T missense 0.00002796●●●●●●
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449. 5417141 c.2322C>A p.N774K missense 0.00002761●●●●●●
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451. 5417155 c.2308C>T p.P770S missense 0.00002695●●●●●●
452. 5410128 c.4097A>G p.Q1366R missense 0.00002673●●●●●●
453. 5391563 c.5357G>A p.R1786Q missense 0.00002654●●●●●●
454. 5427875 c.1580C>G p.A527G missense 0.00002638●●●●●●
455. 5363907 c.6380C>T p.S2127L missense 0.00002631●●●●●●
456. 5427326 c.2129C>G p.S710C missense 0.00002618●●●●●●
457. 5410678 c.3547G>A p.A1183T missense 0.00002616●●●●●●
458. 5353062 c.7460C>T p.P2487L missense 0.00002604●●●●●●
459. 5401657 c.4403C>T p.A1468V missense 0.00002594●●●●●●
460. 5413776 c.3139C>T p.R1047C missense 0.00002590●●●●●●
461. 5410539 c.3686G>T p.R1229L missense 0.00002588●●●●●●
462. 5391678 c.5242G>A p.A1748T missense 0.00002585●●●●●●
463. 5354630 c.7012G>T p.A2338S missense 0.00002580●●●●●●
464. 5427948 c.1507C>T p.P503S missense 0.00002566●●●●●●
465. 5391669 c.5251C>T p.P1751S missense 0.00002566●●●●●●
466. 5348945 c.8443G>A p.G2815S missense 0.00002557●●●●●●
467. 5391623 c.5297C>G p.A1766G missense 0.00002537●●●●●●
468. 5348870 c.8518C>T p.R2840C missense 0.00002536●●●●●●
469. 5348930 c.8458C>T p.R2820C missense 0.00002535●●●●●●
470. 5415738 c.2726G>A p.R909Q missense 0.00002526●●●●●●
471. 5427476 c.1979G>A p.S660N missense 0.00002523●●●●●●
472. 5417592 c.2216T>G p.L739R missense 0.00002518●●●●●●
473. 5415699 c.2765A>G p.Q922R missense 0.00002512●●●●●●
474. 5363982 c.6305G>A p.R2102H missense 0.00002512●●●●●●
475. 5415705 c.2759C>A p.A920E missense 0.00002507●●●●●●
476. 5417044 c.2419C>T p.R807C missense 0.00002489●●●●●●
477. 5399151 c.4711G>A p.G1571R missense 0.00002484●●●●●●
478. 5399057 c.4805A>G p.H1602R missense 0.00002484●●●●●●
479. 5427837 c.1618G>A p.A540T missense 0.00002475●●●●●●
480. 5353225 c.7297A>G p.T2433A missense 0.00002464●●●●●●
481. 5353243 c.7279C>T p.L2427F missense 0.00002452●●●●●●
482. 5427992 c.1463A>C p.Q488P missense 0.00002447●●●●●●
483. 5354647 c.6995G>A p.R2332H missense 0.00002441●●●●●●
484. 5410995 c.3230A>G p.D1077G missense 0.00002399●●●●●●
485. 5363866 c.6421G>A p.V2141M missense 0.00002378●●●●●●
486. 5396903 c.4838A>C p.K1613T missense 0.00002346●●●●●●
487. 5353294 c.7228G>A p.E2410K missense 0.00002328●●●●●●
488. 5353290 c.7232C>T p.P2411L missense 0.00002322●●●●●●
489. 5427891 c.1564C>G p.Q522E missense 0.00002300●●●●●●
490. 5353071 c.7451G>T p.R2484L missense 0.00002291●●●●●●
491. 5347943 c.8701C>T p.R2901C missense 0.00002275●●●●●●
492. 5410977 c.3248C>T p.P1083L missense 0.00002270●●●●●●
493. 5353072 c.7450C>T p.R2484W missense 0.00002248●●●●●●
494. 5363872 c.6415G>A p.G2139R missense 0.00002217●●●●●●
495. 5401592 c.4468G>T p.V1490L missense 0.00002185●●●●●●
496. 5410938 c.3287C>A p.P1096H missense 0.00002154●●●●●●
497. 5353342 c.7180C>T p.P2394S missense 0.00002153●●●●●●
498. 5396875 c.4866C>A p.D1622E missense 0.00002145●●●●●●
499. 5410149 c.4076C>G p.S1359C missense 0.00002143●●●●●●
500. 5427600 c.1855A>G p.M619V missense 0.00002142●●●●●●
501. 5348788 c.8600C>T p.P2867L missense 0.00002118●●●●●●
502. 5401595 c.4465G>A p.E1489K missense 0.00002113●●●●●●
503. 5427594 c.1861C>T p.P621S missense 0.00002111●●●●●●
504. 5410425 c.3800C>T p.A1267V missense 0.00002106●●●●●●
505. 5348988 c.8400G>C p.M2800I missense 0.00002094●●●●●●
506. 5353348 c.7174G>A p.A2392T missense 0.00002093●●●●●●
507. 5427585 c.1870G>C p.A624P missense 0.00002083●●●●●●
508. 5427585 c.1870G>T p.A624S missense 0.00002083●●●●●●
509. 5353353 c.7169G>A p.R2390H missense 0.00002077●●●●●●
510. 5353353 c.7169G>T p.R2390L missense 0.00002077●●●●●●
511. 5353356 c.7166C>T p.A2389V missense 0.00002076●●●●●●
512. 5427561 c.1894C>G p.R632G missense 0.00002071●●●●●●
513. 5427548 c.1907G>A p.R636H missense 0.00002071●●●●●●
514. 5427558 c.1897G>A p.A633T missense 0.00002071●●●●●●
515. 5348791 c.8597G>A p.S2866N missense 0.00002069●●●●●●
516. 5353354 c.7168C>T p.R2390C missense 0.00002068●●●●●●
517. 5427546 c.1909C>T p.L637F missense 0.00002056●●●●●●
518. 5427566 c.1889C>T p.A630V missense 0.00002056●●●●●●
519. 5427462 c.1993G>A p.G665R missense 0.00002047●●●●●●
520. 5391477 c.5443G>A p.D1815N missense 0.00002018●●●●●●
521. 5363881 c.6406C>T p.P2136S missense 0.00001970●●●●●●
522. 5391720 c.5200G>A p.D1734N missense 0.00001959●●●●●●
523. 5353086 c.7436A>C p.E2479A missense 0.00001956●●●●●●
524. 5401565 c.4495C>T p.R1499C missense 0.00001955●●●●●●
525. 5427978 c.1477C>T p.L493F missense 0.00001953●●●●●●
526. 5410218 c.4007A>T p.E1336V missense 0.00001952●●●●●●
527. 5353443 c.7079C>T p.T2360I missense 0.00001948●●●●●●
528. 5353468 c.7054A>G p.N2352D missense 0.00001947●●●●●●
529. 5353445 c.7077T>A p.S2359R missense 0.00001947●●●●●●
530. 5427525 c.1930G>A p.A644T missense 0.00001947●●●●●●
531. 5353462 c.7060A>G p.T2354A missense 0.00001946●●●●●●
532. 5410875 c.3350C>T p.P1117L missense 0.00001934●●●●●●
533. 5430207 c.396C>A p.H132Q missense 0.00001932●●●●●●
534. 5410296 c.3929C>T p.P1310L missense 0.00001907●●●●●●
535. 5410857 c.3368G>A p.R1123H missense 0.00001883●●●●●●
536. 5410858 c.3367C>T p.R1123C missense 0.00001883●●●●●●
537. 5401605 c.4455G>A p.M1485I missense 0.00001880●●●●●●
538. 5353093 c.7429G>C p.A2477P missense 0.00001876●●●●●●
539. 5427446 c.2009G>C p.G670A missense 0.00001874●●●●●●
540. 5363890 c.6397G>A p.E2133K missense 0.00001867●●●●●●
541. 5410276 c.3949C>T p.L1317F missense 0.00001851●●●●●●
542. 5401611 c.4449C>G p.F1483L missense 0.00001827●●●●●●
543. 5410824 c.3401G>A p.R1134H missense 0.00001823●●●●●●
544. 5391521 c.5399T>A p.F1800Y missense 0.00001813●●●●●●
545. 5410816 c.3409C>T p.P1137S missense 0.00001813●●●●●●
546. 5410810 c.3415A>G p.K1139E missense 0.00001805●●●●●●
547. 5352430 c.8092G>T p.A2698S missense 0.00001803●●●●●●
548. 5410792 c.3433C>T p.R1145W missense 0.00001796●●●●●●
549. 5410500 c.3725C>T p.A1242V missense 0.00001785●●●●●●
550. 5391546 c.5374C>T p.P1792S missense 0.00001781●●●●●●
551. 5410774 c.3451G>A p.E1151K missense 0.00001778●●●●●●
552. 5410770 c.3455C>T p.P1152L missense 0.00001773●●●●●●
553. 5352403 c.8119G>C p.A2707P missense 0.00001772●●●●●●
554. 5410756 c.3469G>A p.E1157K missense 0.00001764●●●●●●
555. 5391569 c.5351C>T p.A1784V missense 0.00001755●●●●●●
556. 5410521 c.3704G>A p.R1235Q missense 0.00001750●●●●●●
557. 5427856 c.1599C>G p.S533R missense 0.00001748●●●●●●
558. 5363847 c.6440C>A p.P2147Q missense 0.00001747●●●●●●
559. 5410522 c.3703C>T p.R1235W missense 0.00001747●●●●●●
560. 5410675 c.3550G>A p.A1184T missense 0.00001744●●●●●●
561. 5430122 c.481G>A p.G161R missense 0.00001740●●●●●●
562. 5391583 c.5337G>C p.K1779N missense 0.00001727●●●●●●
563. 5430146 c.457G>A p.D153N missense 0.00001727●●●●●●
564. 5363916 c.6371A>G p.N2124S missense 0.00001726●●●●●●
565. 5410617 c.3608C>T p.A1203V missense 0.00001717●●●●●●
566. 5417650 c.2158G>A p.G720S missense 0.00001716●●●●●●
567. 5427968 c.1487T>C p.L496P missense 0.00001708●●●●●●
568. 5363929 c.6358G>A p.D2120N missense 0.00001705●●●●●●
569. 5417641 c.2167G>T p.D723Y missense 0.00001702●●●●●●
570. 5391659 c.5261C>G p.S1754C missense 0.00001700●●●●●●
571. 5427510 c.1945C>T p.R649W missense 0.00001693●●●●●●
572. 5363943 c.6344T>G p.M2115R missense 0.00001687●●●●●●
573. 5363944 c.6343A>C p.M2115L missense 0.00001686●●●●●●
574. 5348579 c.8627A>G p.H2876R missense 0.00001684●●●●●●
575. 5355626 c.6823T>C p.S2275P missense 0.00001680●●●●●●
576. 5355644 c.6805A>G p.T2269A missense 0.00001679●●●●●●
577. 5417587 c.2221G>A p.A741T missense 0.00001679●●●●●●
578. 5417575 c.2233C>T p.R745W missense 0.00001679●●●●●●
579. 5417599 c.2209C>G p.R737G missense 0.00001678●●●●●●
580. 5355637 c.6812G>A p.R2271K missense 0.00001678●●●●●●
581. 5363983 c.6304C>T p.R2102C missense 0.00001675●●●●●●
582. 5363980 c.6307G>A p.G2103S missense 0.00001675●●●●●●
583. 5363980 c.6307G>T p.G2103C missense 0.00001675●●●●●●
584. 5348528 c.8678G>A p.S2893N missense 0.00001673●●●●●●
585. 5363850 c.6437C>A p.T2146N missense 0.00001658●●●●●●
586. 5399134 c.4728C>A p.H1576Q missense 0.00001656●●●●●●
587. 5399074 c.4788C>G p.N1596K missense 0.00001656●●●●●●
588. 5399074 c.4788C>A p.N1596K missense 0.00001656●●●●●●
589. 5399138 c.4724G>C p.R1575T missense 0.00001656●●●●●●
590. 5399111 c.4751A>G p.D1584G missense 0.00001656●●●●●●
591. 5348567 c.8639A>G p.K2880R missense 0.00001614●●●●●●
592. 5348559 c.8647C>A p.R2883S missense 0.00001568●●●●●●
593. 5416555 c.2531C>T p.P844L missense 0.00001563●●●●●●
594. 5410179 c.4046C>T p.A1349V missense 0.00001554●●●●●●
595. 5348553 c.8653C>T p.L2885F missense 0.00001553●●●●●●
596. 5427863 c.1592A>C p.H531P missense 0.00001553●●●●●●
597. 5348535 c.8671G>A p.V2891I missense 0.00001550●●●●●●
598. 5401574 c.4486G>C p.E1496Q missense 0.00001546●●●●●●
599. 5427864 c.1591C>T p.H531Y missense 0.00001538●●●●●●
600. 5427864 c.1591C>G p.H531D missense 0.00001538●●●●●●
601. 5347824 c.8820C>G p.D2940E missense 0.00001537●●●●●●
602. 5353057 c.7465G>A p.A2489T missense 0.00001533●●●●●●
603. 5348550 c.8656C>T p.P2886S missense 0.00001514●●●●●●
604. 5348540 c.8666T>C p.L2889P missense 0.00001493●●●●●●
605. 5401576 c.4484A>G p.K1495R missense 0.00001492●●●●●●
606. 5427959 c.1496G>A p.G499E missense 0.00001475●●●●●●
607. 5363856 c.6431C>T p.P2144L missense 0.00001453●●●●●●
608. 5430259 c.344G>C p.G115A missense 0.00001435●●●●●●
609. 5430259 c.344G>A p.G115D missense 0.00001435●●●●●●
610. 5427492 c.1963C>T p.P655S missense 0.00001416●●●●●●
611. 5348770 c.8618A>G p.Q2873R missense 0.00001383●●●●●●
612. 5363859 c.6428G>A p.R2143Q missense 0.00001364●●●●●●
613. 5427873 c.1582G>A p.A528T missense 0.00001351●●●●●●
614. 5347831 c.8813A>T p.Y2938F missense 0.00001346●●●●●●
615. 5348772 c.8616C>A p.H2872Q missense 0.00001329●●●●●●
616. 5363860 c.6427C>T p.R2143W missense 0.00001319●●●●●●
617. 5396822 c.4919A>G p.D1640G missense 0.00001303●●●●●●
618. 5396823 c.4918G>A p.D1640N missense 0.00001288●●●●●●
619. 5416538 c.2548G>T p.V850F missense 0.00001285●●●●●●
620. 5396825 c.4916A>G p.Q1639R missense 0.00001257●●●●●●
621. 5363862 c.6425A>G p.E2142G missense 0.00001255●●●●●●
622. 5416533 c.2553G>T p.R851S missense 0.00001239●●●●●●
623. 5353221 c.7301G>A p.R2434H missense 0.00001233●●●●●●
624. 5410399 c.3826G>A p.E1276K missense 0.00001231●●●●●●
625. 5401586 c.4474C>T p.R1492C missense 0.00001230●●●●●●
626. 5353216 c.7306A>G p.K2436E missense 0.00001226●●●●●●
627. 5416531 c.2555A>T p.D852V missense 0.00001223●●●●●●
628. 5353245 c.7277C>A p.P2426H missense 0.00001220●●●●●●
629. 5353248 c.7274C>T p.A2425V missense 0.00001215●●●●●●
630. 5410194 c.4031C>A p.A1344D missense 0.00001215●●●●●●
631. 5353209 c.7313A>C p.K2438T missense 0.00001209●●●●●●
632. 5410195 c.4030G>A p.A1344T missense 0.00001203●●●●●●
633. 5410378 c.3847G>A p.A1283T missense 0.00001202●●●●●●
634. 5427939 c.1516C>T p.P506S missense 0.00001200●●●●●●
635. 5348999 c.8389C>T p.R2797W missense 0.00001198●●●●●●
636. 5413770 c.3145G>A p.E1049K missense 0.00001197●●●●●●
637. 5416525 c.2561A>T p.Q854L missense 0.00001197●●●●●●
638. 5410420 c.3805C>T p.P1269S missense 0.00001194●●●●●●
639. 5353200 c.7322G>A p.R2441Q missense 0.00001192●●●●●●
640. 5354663 c.6979G>T p.A2327S missense 0.00001174●●●●●●
641. 5354663 c.6979G>A p.A2327T missense 0.00001174●●●●●●
642. 5353255 c.7267G>A p.A2423T missense 0.00001174●●●●●●
643. 5413766 c.3149A>C p.E1050A missense 0.00001160●●●●●●
644. 5416516 c.2570A>G p.Q857R missense 0.00001157●●●●●●
645. 5396899 c.4842T>G p.I1614M missense 0.00001157●●●●●●
646. 5353279 c.7243C>G p.L2415V missense 0.00001156●●●●●●
647. 5410982 c.3243G>T p.R1081S missense 0.00001149●●●●●●
648. 5396837 c.4904C>G p.S1635C missense 0.00001146●●●●●●
649. 5396896 c.4845G>C p.K1615N missense 0.00001143●●●●●●
650. 5353307 c.7215C>G p.S2405R missense 0.00001134●●●●●●
651. 5353309 c.7213A>G p.S2405G missense 0.00001128●●●●●●
652. 5363871 c.6416G>C p.G2139A missense 0.00001118●●●●●●
653. 5416487 c.2599C>G p.P867A missense 0.00001113●●●●●●
654. 5416487 c.2599C>T p.P867S missense 0.00001113●●●●●●
655. 5430232 c.371A>T p.Y124F missense 0.00001112●●●●●●
656. 5410351 c.3874G>C p.E1292Q missense 0.00001111●●●●●●
657. 5348785 c.8603G>A p.G2868D missense 0.00001110●●●●●●
658. 5427921 c.1534C>T p.P512S missense 0.00001107●●●●●●
659. 5427901 c.1554C>G p.F518L missense 0.00001105●●●●●●
660. 5410963 c.3262C>T p.P1088S missense 0.00001103●●●●●●
661. 5353327 c.7195G>A p.A2399T missense 0.00001100●●●●●●
662. 5413758 c.3157G>A p.E1053K missense 0.00001099●●●●●●
663. 5427915 c.1540G>C p.E514Q missense 0.00001096●●●●●●
664. 5427468 c.1987G>C p.A663P missense 0.00001091●●●●●●
665. 5410955 c.3270C>G p.H1090Q missense 0.00001090●●●●●●
666. 5353183 c.7339G>A p.G2447S missense 0.00001081●●●●●●
667. 5353341 c.7181C>T p.P2394L missense 0.00001081●●●●●●
668. 5410934 c.3291C>G p.F1097L missense 0.00001075●●●●●●
669. 5410339 c.3886T>G p.C1296G missense 0.00001074●●●●●●
670. 5396855 c.4886A>G p.K1629R missense 0.00001070●●●●●●
671. 5354689 c.6953G>T p.G2318V missense 0.00001066●●●●●●
672. 5410920 c.3305C>T p.T1102M missense 0.00001065●●●●●●
673. 5396857 c.4884C>G p.S1628R missense 0.00001064●●●●●●
674. 5410921 c.3304A>C p.T1102P missense 0.00001062●●●●●●
675. 5410333 c.3892G>A p.V1298M missense 0.00001060●●●●●●
676. 5396867 c.4874A>G p.Q1625R missense 0.00001058●●●●●●
677. 5348789 c.8599C>A p.P2867T missense 0.00001048●●●●●●
678. 5347850 c.8794A>C p.M2932L missense 0.00001048●●●●●●
679. 5410329 c.3896C>A p.P1299H missense 0.00001046●●●●●●
680. 5410909 c.3316G>A p.D1106N missense 0.00001046●●●●●●
681. 5410206 c.4019C>G p.A1340G missense 0.00001045●●●●●●
682. 5353351 c.7171C>T p.P2391S missense 0.00001040●●●●●●
683. 5413689 c.3226T>C p.S1076P missense 0.00001039●●●●●●
684. 5410207 c.4018G>A p.A1340T missense 0.00001038●●●●●●
685. 5410324 c.3901G>A p.G1301R missense 0.00001036●●●●●●
686. 5363877 c.6410G>A p.R2137H missense 0.00001035●●●●●●
687. 5353357 c.7165G>A p.A2389T missense 0.00001034●●●●●●
688. 5354695 c.6947A>G p.D2316G missense 0.00001033●●●●●●
689. 5410905 c.3320C>T p.A1107V missense 0.00001029●●●●●●
690. 5413695 c.3220C>G p.L1074V missense 0.00001024●●●●●●
691. 5391474 c.5446T>A p.S1816T missense 0.00001013●●●●●●
692. 5391474 c.5446T>C p.S1816P missense 0.00001013●●●●●●
693. 5410900 c.3325G>C p.G1109R missense 0.00001012●●●●●●
694. 5410901 c.3324C>G p.D1108E missense 0.00001012●●●●●●
695. 5353386 c.7136C>T p.P2379L missense 0.00001011●●●●●●
696. 5347860 c.8784G>C p.Q2928H missense 0.00001010●●●●●●
697. 5353167 c.7355G>A p.R2452Q missense 0.00001009●●●●●●
698. 5410318 c.3907G>C p.G1303R missense 0.00001008●●●●●●
699. 5391722 c.5198C>T p.T1733M missense 0.00001001●●●●●●
700. 5391722 c.5198C>A p.T1733K missense 0.00001001●●●●●●
701. 5391479 c.5441G>T p.S1814I missense 0.00000999●●●●●●
702. 5391723 c.5197A>G p.T1733A missense 0.00000999●●●●●●
703. 5410444 c.3781C>G p.P1261A missense 0.00000998●●●●●●
704. 5391481 c.5439C>G p.F1813L missense 0.00000994●●●●●●
705. 5353404 c.7118A>G p.K2373R missense 0.00000993●●●●●●
706. 5353410 c.7112G>C p.G2371A missense 0.00000989●●●●●●
707. 5410313 c.3912G>T p.Q1304H missense 0.00000989●●●●●●
708. 5353411 c.7111G>C p.G2371R missense 0.00000988●●●●●●
709. 5410891 c.3334C>T p.P1112S missense 0.00000986●●●●●●
710. 5413716 c.3199G>A p.A1067T missense 0.00000985●●●●●●
711. 5410450 c.3775G>A p.E1259K missense 0.00000981●●●●●●
712. 5353486 c.7036G>A p.A2346T missense 0.00000978●●●●●●
713. 5391491 c.5429G>A p.R1810H missense 0.00000978●●●●●●
714. 5353428 c.7094A>G p.E2365G missense 0.00000978●●●●●●
715. 5347907 c.8737G>C p.D2913H missense 0.00000977●●●●●●
716. 5353482 c.7040C>A p.T2347N missense 0.00000977●●●●●●
717. 5353479 c.7043T>C p.L2348P missense 0.00000976●●●●●●
718. 5353434 c.7088C>T p.A2363V missense 0.00000976●●●●●●
719. 5410308 c.3917C>T p.P1306L missense 0.00000975●●●●●●
720. 5353471 c.7051G>A p.G2351R missense 0.00000974●●●●●●
721. 5353457 c.7065C>G p.D2355E missense 0.00000973●●●●●●
722. 5354714 c.6928G>C p.D2310H missense 0.00000973●●●●●●
723. 5410881 c.3344C>T p.P1115L missense 0.00000972●●●●●●
724. 5430211 c.392A>G p.N131S missense 0.00000970●●●●●●
725. 5354716 c.6926A>G p.K2309R missense 0.00000969●●●●●●
726. 5410873 c.3352G>A p.A1118T missense 0.00000965●●●●●●
727. 5353090 c.7432A>G p.K2478E missense 0.00000957●●●●●●
728. 5401603 c.4457G>A p.R1486Q missense 0.00000957●●●●●●
729. 5363885 c.6402C>G p.H2134Q missense 0.00000957●●●●●●
730. 5353152 c.7370A>G p.E2457G missense 0.00000951●●●●●●
731. 5410228 c.3997C>T p.P1333S missense 0.00000947●●●●●●
732. 5353147 c.7375G>A p.E2459K missense 0.00000936●●●●●●
733. 5410285 c.3940G>T p.V1314L missense 0.00000933●●●●●●
734. 5391506 c.5414G>A p.R1805Q missense 0.00000933●●●●●●
735. 5430200 c.403C>T p.P135S missense 0.00000933●●●●●●
736. 5410285 c.3940G>A p.V1314M missense 0.00000933●●●●●●
737. 5353095 c.7427A>G p.K2476R missense 0.00000929●●●●●●
738. 5410239 c.3986A>C p.D1329A missense 0.00000928●●●●●●
739. 5410474 c.3751C>G p.P1251A missense 0.00000928●●●●●●
740. 5410474 c.3751C>T p.P1251S missense 0.00000928●●●●●●
741. 5410273 c.3952G>A p.G1318S missense 0.00000924●●●●●●
742. 5410275 c.3950T>C p.L1317P missense 0.00000923●●●●●●
743. 5401609 c.4451G>A p.R1484Q missense 0.00000922●●●●●●
744. 5410840 c.3385G>A p.E1129K missense 0.00000922●●●●●●
745. 5391707 c.5213A>G p.D1738G missense 0.00000921●●●●●●
746. 5410266 c.3959C>A p.T1320N missense 0.00000920●●●●●●
747. 5410831 c.3394C>T p.P1132S missense 0.00000916●●●●●●
748. 5410833 c.3392A>G p.K1131R missense 0.00000916●●●●●●
749. 5391524 c.5396C>T p.P1799L missense 0.00000906●●●●●●
750. 5410489 c.3736G>A p.G1246R missense 0.00000903●●●●●●
751. 5410810 c.3415A>C p.K1139Q missense 0.00000902●●●●●●
752. 5410805 c.3420C>G p.I1140M missense 0.00000901●●●●●●
753. 5427431 c.2024C>T p.A675V missense 0.00000901●●●●●●
754. 5430191 c.412A>C p.S138R missense 0.00000899●●●●●●
755. 5410797 c.3428C>T p.P1143L missense 0.00000899●●●●●●
756. 5410794 c.3431T>G p.L1144R missense 0.00000897●●●●●●
757. 5410785 c.3440G>C p.G1147A missense 0.00000895●●●●●●
758. 5410786 c.3439G>A p.G1147S missense 0.00000895●●●●●●
759. 5401620 c.4440G>C p.E1480D missense 0.00000895●●●●●●
760. 5410785 c.3440G>A p.G1147D missense 0.00000895●●●●●●
761. 5391543 c.5377G>A p.A1793T missense 0.00000894●●●●●●
762. 5427426 c.2029G>A p.V677M missense 0.00000894●●●●●●
763. 5410764 c.3461C>G p.A1154G missense 0.00000884●●●●●●
764. 5410762 c.3463G>C p.E1155Q missense 0.00000884●●●●●●
765. 5391557 c.5363T>A p.L1788Q missense 0.00000883●●●●●●
766. 5410761 c.3464A>T p.E1155V missense 0.00000883●●●●●●
767. 5430182 c.421C>T p.P141S missense 0.00000883●●●●●●
768. 5391564 c.5356C>G p.R1786G missense 0.00000882●●●●●●
769. 5410509 c.3716G>T p.C1239F missense 0.00000882●●●●●●
770. 5410716 c.3509C>T p.T1170I missense 0.00000879●●●●●●
771. 5410701 c.3524T>G p.L1175R missense 0.00000879●●●●●●
772. 5410723 c.3502G>C p.G1168R missense 0.00000878●●●●●●
773. 5391566 c.5354C>A p.P1785H missense 0.00000878●●●●●●
774. 5410741 c.3484G>T p.V1162L missense 0.00000878●●●●●●
775. 5363907 c.6380C>G p.S2127W missense 0.00000877●●●●●●
776. 5391567 c.5353C>G p.P1785A missense 0.00000877●●●●●●
777. 5410684 c.3541C>G p.L1181V missense 0.00000875●●●●●●
778. 5401633 c.4427T>G p.M1476R missense 0.00000875●●●●●●
779. 5401633 c.4427T>C p.M1476T missense 0.00000875●●●●●●
780. 5427393 c.2062G>T p.V688L missense 0.00000874●●●●●●
781. 5401634 c.4426A>T p.M1476L missense 0.00000874●●●●●●
782. 5427303 c.2152G>A p.G718R missense 0.00000873●●●●●●
783. 5427314 c.2141G>A p.S714N missense 0.00000873●●●●●●
784. 5427320 c.2135C>T p.S712L missense 0.00000873●●●●●●
785. 5427323 c.2132T>G p.L711R missense 0.00000872●●●●●●
786. 5410677 c.3548C>T p.A1183V missense 0.00000872●●●●●●
787. 5427330 c.2125C>T p.R709C missense 0.00000872●●●●●●
788. 5430121 c.482G>A p.G161E missense 0.00000871●●●●●●
789. 5391691 c.5229G>C p.K1743N missense 0.00000870●●●●●●
790. 5410527 c.3698C>A p.P1233Q missense 0.00000869●●●●●●
791. 5401640 c.4420G>C p.E1474Q missense 0.00000869●●●●●●
792. 5430158 c.445C>T p.P149S missense 0.00000868●●●●●●
793. 5430159 c.444G>C p.Q148H missense 0.00000868●●●●●●
794. 5430163 c.440G>T p.G147V missense 0.00000868●●●●●●
795. 5410666 c.3559A>G p.M1187V missense 0.00000868●●●●●●
796. 5410530 c.3695C>T p.S1232F missense 0.00000867●●●●●●
797. 5430128 c.475G>T p.G159W missense 0.00000866●●●●●●
798. 5410650 c.3575C>T p.P1192L missense 0.00000866●●●●●●
799. 5410657 c.3568C>T p.P1190S missense 0.00000866●●●●●●
800. 5410644 c.3581G>C p.G1194A missense 0.00000865●●●●●●
801. 5401664 c.4396A>T p.M1466L missense 0.00000865●●●●●●
802. 5410660 c.3565A>G p.T1189A missense 0.00000865●●●●●●
803. 5430152 c.451A>G p.I151V missense 0.00000864●●●●●●
804. 5401655 c.4405A>G p.M1469V missense 0.00000864●●●●●●
805. 5355685 c.6764A>G p.D2255G missense 0.00000864●●●●●●
806. 5391581 c.5339G>C p.R1780T missense 0.00000864●●●●●●
807. 5430145 c.458A>G p.D153G missense 0.00000863●●●●●●
808. 5410633 c.3592G>A p.G1198S missense 0.00000862●●●●●●
809. 5410543 c.3682C>T p.P1228S missense 0.00000860●●●●●●
810. 5410618 c.3607G>A p.A1203T missense 0.00000859●●●●●●
811. 5363920 c.6367C>G p.P2123A missense 0.00000859●●●●●●
812. 5355681 c.6768T>A p.D2256E missense 0.00000858●●●●●●
813. 5391591 c.5329C>G p.L1777V missense 0.00000858●●●●●●
814. 5410606 c.3619A>C p.S1207R missense 0.00000857●●●●●●
815. 5410563 c.3662A>G p.D1221G missense 0.00000855●●●●●●
816. 5410584 c.3641C>T p.A1214V missense 0.00000855●●●●●●
817. 5417646 c.2162G>A p.R721Q missense 0.00000855●●●●●●
818. 5410562 c.3663C>G p.D1221E missense 0.00000855●●●●●●
819. 5391597 c.5323C>T p.P1775S missense 0.00000854●●●●●●
820. 5410573 c.3652G>C p.E1218Q missense 0.00000854●●●●●●
821. 5410575 c.3650C>G p.S1217C missense 0.00000854●●●●●●
822. 5391662 c.5258G>C p.S1753T missense 0.00000851●●●●●●
823. 5391605 c.5315C>T p.A1772V missense 0.00000851●●●●●●
824. 5391656 c.5264A>G p.K1755R missense 0.00000849●●●●●●
825. 5391614 c.5306G>T p.S1769I missense 0.00000847●●●●●●
826. 5391647 c.5273C>T p.P1758L missense 0.00000847●●●●●●
827. 5348864 c.8524C>G p.Q2842E missense 0.00000846●●●●●●
828. 5391642 c.5278C>T p.L1760F missense 0.00000846●●●●●●
829. 5355670 c.6779T>C p.I2260T missense 0.00000846●●●●●●
830. 5348914 c.8474C>T p.A2825V missense 0.00000844●●●●●●
831. 5348927 c.8461A>G p.I2821V missense 0.00000844●●●●●●
832. 5417632 c.2176T>C p.C726R missense 0.00000844●●●●●●
833. 5355665 c.6784G>T p.V2262L missense 0.00000843●●●●●●
834. 5355665 c.6784G>A p.V2262M missense 0.00000843●●●●●●
835. 5363946 c.6341G>T p.S2114I missense 0.00000842●●●●●●
836. 5363949 c.6338A>C p.E2113A missense 0.00000842●●●●●●
837. 5417623 c.2185G>A p.D729N missense 0.00000842●●●●●●
838. 5417620 c.2188C>T p.R730W missense 0.00000841●●●●●●
839. 5355620 c.6829A>G p.I2277V missense 0.00000841●●●●●●
840. 5417589 c.2219G>C p.G740A missense 0.00000840●●●●●●
841. 5417562 c.2246A>G p.K749R missense 0.00000840●●●●●●
842. 5417574 c.2234G>A p.R745Q missense 0.00000840●●●●●●
843. 5417589 c.2219G>A p.G740E missense 0.00000840●●●●●●
844. 5355632 c.6817C>T p.P2273S missense 0.00000839●●●●●●
845. 5417608 c.2200C>T p.R734W missense 0.00000839●●●●●●
846. 5355632 c.6817C>A p.P2273T missense 0.00000839●●●●●●
847. 5417599 c.2209C>T p.R737W missense 0.00000839●●●●●●
848. 5417592 c.2216T>A p.L739H missense 0.00000839●●●●●●
849. 5417607 c.2201G>A p.R734Q missense 0.00000839●●●●●●
850. 5417583 c.2225G>A p.R742Q missense 0.00000839●●●●●●
851. 5417598 c.2210G>A p.R737Q missense 0.00000839●●●●●●
852. 5363986 c.6301A>G p.N2101D missense 0.00000837●●●●●●
853. 5399064 c.4798G>C p.D1600H missense 0.00000828●●●●●●
854. 5399177 c.4685C>T p.T1562I missense 0.00000828●●●●●●
855. 5399161 c.4701G>C p.E1567D missense 0.00000828●●●●●●
856. 5399116 c.4746A>T p.E1582D missense 0.00000828●●●●●●
857. 5399108 c.4754C>T p.A1585V missense 0.00000828●●●●●●
858. 5399071 c.4791G>T p.Q1597H missense 0.00000828●●●●●●
859. 5399172 c.4690G>C p.D1564H missense 0.00000828●●●●●●
860. 5399051 c.4811C>G p.A1604G missense 0.00000828●●●●●●
861. 5399191 c.4671C>G p.S1557R missense 0.00000828●●●●●●
862. 5399145 c.4717A>G p.R1573G missense 0.00000828●●●●●●
863. 5399136 c.4726C>A p.H1576N missense 0.00000828●●●●●●
864. 5399090 c.4772A>G p.K1591R missense 0.00000828●●●●●●
865. 5399167 c.4695T>G p.D1565E missense 0.00000828●●●●●●
866. 5399071 c.4791G>C p.Q1597H missense 0.00000828●●●●●●
867. 5399153 c.4709C>T p.A1570V missense 0.00000828●●●●●●
868. 5399103 c.4759A>G p.I1587V missense 0.00000828●●●●●●
869. 5399172 c.4690G>A p.D1564N missense 0.00000828●●●●●●
870. 5399133 c.4729A>G p.K1577E missense 0.00000828●●●●●●
871. 5399081 c.4781G>A p.G1594E missense 0.00000828●●●●●●
872. 5399159 c.4703T>C p.L1568P missense 0.00000828●●●●●●
873. 5399140 c.4722G>C p.K1574N missense 0.00000828●●●●●●
874. 5399106 c.4756C>G p.L1586V missense 0.00000828●●●●●●

* 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.