WNK1 missense variants in ExAC

WNK1 gene summary
WNK1 variants in

The table below lists the WNK1 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. 994487 c.4517G>C p.C1506S missense 0.99634285●●●●●●
2. 990912 c.3166A>C p.T1056P missense 0.83141680●●●●●●
3. 998365 c.5424G>T p.M1808I missense 0.37658358●●●●●●
4. 863152 c.421G>A p.A141T missense 0.16333369●●●●●●
5. 971291 c.1994C>T p.T665I missense 0.06388710●●●●●●
6. 999638 c.5468C>T p.P1823L missense 0.01673285●●●●●●
7. 971378 c.2081T>C p.I694T missense 0.00472911●●●●●●
8. 968536 c.1526T>C p.I509T missense 0.00465321●●●●●●
9. 863177 c.446C>T p.A149V missense 0.00456392●●●●●●
10. 971317 c.2020A>G p.T674A missense 0.00257023●●●●●●
11. 994324 c.4354A>G p.T1452A missense 0.00215063●●●●●●
12. 980497 c.2206A>G p.I736V missense 0.00210939●●●●●●
13. 1005685 c.6032C>A p.S2011Y missense 0.00114569●●●●●●
14. 1005486 c.5833C>T p.R1945C missense 0.00079900●●●●●●
15. 970413 c.1855A>G p.T619A missense 0.00075826●●●●●●
16. 987490 c.2336C>T p.A779V missense 0.00062614●●●●●●
17. 863309 c.578C>A p.P193Q missense 0.00049962●●●●●●
18. 994534 c.4564G>A p.V1522M missense 0.00044482●●●●●●
19. 863221 c.490C>T p.R164C missense 0.00043673●●●●●●
20. 1017830 c.7021G>A p.G2341S missense 0.00043657●●●●●●
21. 992649 c.3578G>A p.S1193N missense 0.00042831●●●●●●
22. 1009817 c.6624C>A p.S2208R missense 0.00042012●●●●●●
23. 1005522 c.5869C>T p.R1957C missense 0.00040363●●●●●●
24. 992587 c.3516A>G p.I1172M missense 0.00037089●●●●●●
25. 988833 c.2468A>G p.H823R missense 0.00035420●●●●●●
26. 863408 c.677A>T p.E226V missense 0.00031703●●●●●●
27. 863128 c.397G>A p.V133I missense 0.00027075●●●●●●
28. 995179 c.5209C>G p.P1737A missense 0.00026788●●●●●●
29. 1005291 c.5638G>A p.A1880T missense 0.00026363●●●●●●
30. 988824 c.2459C>G p.S820C missense 0.00026358●●●●●●
31. 994550 c.4580A>G p.H1527R missense 0.00025535●●●●●●
32. 994552 c.4582T>A p.S1528T missense 0.00025535●●●●●●
33. 1005621 c.5968C>T p.P1990S missense 0.00024715●●●●●●
34. 990073 c.3019A>G p.M1007V missense 0.00021415●●●●●●
35. 991183 c.3316G>C p.V1106L missense 0.00019592●●●●●●
36. 1005523 c.5870G>A p.R1957H missense 0.00018946●●●●●●
37. 990934 c.3188C>T p.T1063I missense 0.00018944●●●●●●
38. 970392 c.1834G>A p.G612S missense 0.00018132●●●●●●
39. 991083 c.3216T>G p.H1072Q missense 0.00017366●●●●●●
40. 988766 c.2401A>G p.I801V missense 0.00017307●●●●●●
41. 990070 c.3016C>T p.P1006S missense 0.00017296●●●●●●
42. 1005504 c.5851A>G p.T1951A missense 0.00015651●●●●●●
43. 989007 c.2642C>T p.T881I missense 0.00015650●●●●●●
44. 1017947 c.7138C>T p.R2380W missense 0.00014147●●●●●●
45. 987402 c.2248C>A p.P750T missense 0.00014004●●●●●●
46. 987444 c.2290A>G p.T764A missense 0.00013180●●●●●●
47. 993829 c.3859G>T p.A1287S missense 0.00013180●●●●●●
48. 863086 c.355C>A p.P119T missense 0.00012973●●●●●●
49. 1005367 c.5714T>A p.V1905E missense 0.00012358●●●●●●
50. 1005373 c.5720C>T p.P1907L missense 0.00012357●●●●●●
51. 996418 c.5312G>T p.G1771V missense 0.00012355●●●●●●
52. 991159 c.3292A>G p.T1098A missense 0.00010828●●●●●●
53. 1017932 c.7123C>T p.P2375S missense 0.00009934●●●●●●
54. 992974 c.3698C>T p.A1233V missense 0.00009894●●●●●●
55. 987420 c.2266C>G p.Q756E missense 0.00009885●●●●●●
56. 994502 c.4532G>A p.S1511N missense 0.00009885●●●●●●
57. 995056 c.5086G>A p.A1696T missense 0.00009165●●●●●●
58. 1017767 c.6958A>G p.M2320V missense 0.00009061●●●●●●
59. 994240 c.4270A>G p.I1424V missense 0.00009061●●●●●●
60. 994201 c.4231A>T p.S1411C missense 0.00009060●●●●●●
61. 988932 c.2567C>A p.T856K missense 0.00009060●●●●●●
62. 862862 c.131C>T p.A44V missense 0.00008940●●●●●●
63. 863026 c.295C>T p.P99S missense 0.00008826●●●●●●
64. 1017956 c.7147T>A p.X2383K missense 0.00008361●●●●●●
65. 1005394 c.5741T>C p.I1914T missense 0.00008238●●●●●●
66. 1005624 c.5971G>T p.A1991S missense 0.00008238●●●●●●
67. 863203 c.472A>T p.S158C missense 0.00007758●●●●●●
68. 1003731 c.5513C>T p.S1838F missense 0.00007414●●●●●●
69. 993371 c.3806G>A p.R1269Q missense 0.00007414●●●●●●
70. 994100 c.4130T>A p.V1377E missense 0.00007413●●●●●●
71. 992636 c.3565G>A p.D1189N missense 0.00007413●●●●●●
72. 988884 c.2519C>T p.P840L missense 0.00007413●●●●●●
73. 922913 c.865T>C p.S289P missense 0.00006631●●●●●●
74. 970327 c.1769A>G p.K590R missense 0.00006594●●●●●●
75. 994457 c.4487C>G p.T1496S missense 0.00006592●●●●●●
76. 980485 c.2194T>C p.S732P missense 0.00006591●●●●●●
77. 988985 c.2620C>T p.L874F missense 0.00006589●●●●●●
78. 863027 c.296C>T p.P99L missense 0.00006179●●●●●●
79. 995191 c.5221A>G p.T1741A missense 0.00006001●●●●●●
80. 995038 c.5068C>G p.P1690A missense 0.00005789●●●●●●
81. 1005748 c.6095C>T p.S2032L missense 0.00005778●●●●●●
82. 995020 c.5050A>G p.I1684V missense 0.00005769●●●●●●
83. 993983 c.4013C>G p.P1338R missense 0.00005766●●●●●●
84. 988787 c.2422C>T p.P808S missense 0.00005766●●●●●●
85. 863158 c.427C>T p.P143S missense 0.00005649●●●●●●
86. 995249 c.5279C>T p.P1760L missense 0.00005056●●●●●●
87. 1005745 c.6092A>G p.H2031R missense 0.00004951●●●●●●
88. 992579 c.3508C>G p.L1170V missense 0.00004947●●●●●●
89. 970378 c.1820C>A p.P607H missense 0.00004945●●●●●●
90. 1005387 c.5734A>C p.I1912L missense 0.00004943●●●●●●
91. 1017692 c.6883A>T p.M2295L missense 0.00004943●●●●●●
92. 1005379 c.5726C>T p.P1909L missense 0.00004943●●●●●●
93. 993869 c.3899C>T p.S1300F missense 0.00004942●●●●●●
94. 1017744 c.6935C>G p.S2312C missense 0.00004942●●●●●●
95. 863077 c.346C>T p.P116S missense 0.00004489●●●●●●
96. 995159 c.5189C>T p.T1730I missense 0.00004344●●●●●●
97. 995114 c.5144A>G p.N1715S missense 0.00004312●●●●●●
98. 862940 c.209C>G p.A70G missense 0.00004309●●●●●●
99. 989196 c.2831A>G p.Q944R missense 0.00004184●●●●●●
100. 990153 c.3099A>C p.Q1033H missense 0.00004132●●●●●●
101. 991126 c.3259C>T p.P1087S missense 0.00004130●●●●●●
102. 991115 c.3248A>G p.N1083S missense 0.00004129●●●●●●
103. 1005742 c.6089C>G p.P2030R missense 0.00004126●●●●●●
104. 994105 c.4135A>G p.T1379A missense 0.00004119●●●●●●
105. 1017704 c.6895C>G p.L2299V missense 0.00004119●●●●●●
106. 992685 c.3614G>A p.G1205E missense 0.00004119●●●●●●
107. 994786 c.4816C>G p.P1606A missense 0.00004118●●●●●●
108. 988817 c.2452G>A p.V818I missense 0.00004118●●●●●●
109. 996432 c.5326G>A p.E1776K missense 0.00004118●●●●●●
110. 863194 c.463A>C p.T155P missense 0.00004038●●●●●●
111. 1005241 c.5588C>T p.S1863F missense 0.00003306●●●●●●
112. 1006776 c.6377G>A p.R2126Q missense 0.00003299●●●●●●
113. 1009690 c.6497C>T p.T2166I missense 0.00003299●●●●●●
114. 994358 c.4388G>A p.S1463N missense 0.00003297●●●●●●
115. 994306 c.4336G>A p.A1446T missense 0.00003296●●●●●●
116. 970345 c.1787C>T p.S596F missense 0.00003296●●●●●●
117. 993904 c.3934C>T p.R1312C missense 0.00003295●●●●●●
118. 990948 c.3202G>C p.V1068L missense 0.00003295●●●●●●
119. 1017034 c.6665T>C p.V2222A missense 0.00003295●●●●●●
120. 1017867 c.7058C>A p.P2353H missense 0.00003295●●●●●●
121. 988794 c.2429C>T p.A810V missense 0.00003295●●●●●●
122. 996460 c.5354C>G p.S1785C missense 0.00003295●●●●●●
123. 993902 c.3932G>T p.R1311I missense 0.00003295●●●●●●
124. 994796 c.4826A>G p.N1609S missense 0.00003295●●●●●●
125. 989016 c.2651C>T p.A884V missense 0.00003295●●●●●●
126. 993905 c.3935G>A p.R1312H missense 0.00003295●●●●●●
127. 988889 c.2524T>G p.S842A missense 0.00003295●●●●●●
128. 863132 c.401C>T p.A134V missense 0.00003086●●●●●●
129. 863123 c.392C>G p.S131C missense 0.00002986●●●●●●
130. 863116 c.385G>A p.A129T missense 0.00002872●●●●●●
131. 862778 c.47T>A p.L16Q missense 0.00002633●●●●●●
132. 995147 c.5177C>T p.T1726I missense 0.00002610●●●●●●
133. 862928 c.197G>T p.R66L missense 0.00002606●●●●●●
134. 995228 c.5258A>G p.K1753R missense 0.00002517●●●●●●
135. 1005820 c.6167C>T p.S2056F missense 0.00002491●●●●●●
136. 1005805 c.6152G>A p.S2051N missense 0.00002487●●●●●●
137. 1005790 c.6137T>C p.L2046P missense 0.00002482●●●●●●
138. 1006677 c.6278G>A p.R2093H missense 0.00002476●●●●●●
139. 971416 c.2119G>T p.V707L missense 0.00002475●●●●●●
140. 992149 c.3413A>G p.E1138G missense 0.00002473●●●●●●
141. 992976 c.3700T>C p.S1234P missense 0.00002473●●●●●●
142. 971258 c.1961C>T p.T654M missense 0.00002473●●●●●●
143. 992730 c.3659C>T p.S1220F missense 0.00002473●●●●●●
144. 993295 c.3730A>G p.T1244A missense 0.00002473●●●●●●
145. 1005682 c.6029C>T p.P2010L missense 0.00002473●●●●●●
146. 992585 c.3514A>G p.I1172V missense 0.00002473●●●●●●
147. 970431 c.1873A>G p.T625A missense 0.00002473●●●●●●
148. 989132 c.2767G>A p.G923R missense 0.00002472●●●●●●
149. 971261 c.1964T>C p.V655A missense 0.00002472●●●●●●
150. 990874 c.3128C>G p.S1043C missense 0.00002472●●●●●●
151. 971389 c.2092G>A p.V698I missense 0.00002472●●●●●●
152. 999662 c.5492C>G p.T1831R missense 0.00002472●●●●●●
153. 988763 c.2398A>G p.T800A missense 0.00002472●●●●●●
154. 980495 c.2204C>T p.P735L missense 0.00002472●●●●●●
155. 1017085 c.6716C>T p.T2239M missense 0.00002472●●●●●●
156. 992598 c.3527C>T p.S1176L missense 0.00002472●●●●●●
157. 996430 c.5324G>A p.S1775N missense 0.00002471●●●●●●
158. 988822 c.2457C>G p.H819Q missense 0.00002471●●●●●●
159. 993847 c.3877A>T p.N1293Y missense 0.00002471●●●●●●
160. 988922 c.2557A>G p.T853A missense 0.00002471●●●●●●
161. 989022 c.2657C>T p.P886L missense 0.00002471●●●●●●
162. 987450 c.2296A>G p.S766G missense 0.00002471●●●●●●
163. 988883 c.2518C>T p.P840S missense 0.00002471●●●●●●
164. 990945 c.3199T>C p.S1067P missense 0.00002471●●●●●●
165. 987421 c.2267A>G p.Q756R missense 0.00002471●●●●●●
166. 989028 c.2663T>C p.V888A missense 0.00002471●●●●●●
167. 994217 c.4247T>C p.I1416T missense 0.00002471●●●●●●
168. 989049 c.2684A>G p.Q895R missense 0.00002471●●●●●●
169. 994546 c.4576G>A p.A1526T missense 0.00002471●●●●●●
170. 1017795 c.6986C>T p.P2329L missense 0.00002471●●●●●●
171. 988901 c.2536A>G p.I846V missense 0.00002471●●●●●●
172. 988910 c.2545C>T p.P849S missense 0.00002471●●●●●●
173. 987474 c.2320G>A p.V774M missense 0.00002471●●●●●●
174. 994204 c.4234G>A p.V1412I missense 0.00002471●●●●●●
175. 863086 c.355C>T p.P119S missense 0.00002359●●●●●●
176. 863072 c.341G>T p.S114I missense 0.00002177●●●●●●
177. 863189 c.458C>T p.P153L missense 0.00002049●●●●●●
178. 863059 c.328G>A p.A110T missense 0.00002029●●●●●●
179. 863197 c.466G>A p.V156I missense 0.00001999●●●●●●
180. 863200 c.469C>T p.P157S missense 0.00001971●●●●●●
181. 862859 c.128C>G p.A43G missense 0.00001794●●●●●●
182. 862736 c.5C>T p.S2F missense 0.00001774●●●●●●
183. 862793 c.62C>T p.P21L missense 0.00001757●●●●●●
184. 991193 c.3326G>A p.R1109H missense 0.00001752●●●●●●
185. 995134 c.5164G>A p.A1722T missense 0.00001736●●●●●●
186. 863324 c.593G>A p.S198N missense 0.00001708●●●●●●
187. 863328 c.597G>C p.Q199H missense 0.00001700●●●●●●
188. 863141 c.410C>T p.P137L missense 0.00001699●●●●●●
189. 863224 c.493C>A p.P165T missense 0.00001685●●●●●●
190. 995070 c.5100C>G p.S1700R missense 0.00001683●●●●●●
191. 995225 c.5255C>A p.S1752Y missense 0.00001680●●●●●●
192. 991165 c.3298C>T p.R1100W missense 0.00001672●●●●●●
193. 1005841 c.6188A>G p.N2063S missense 0.00001667●●●●●●
194. 968613 c.1603G>C p.D535H missense 0.00001666●●●●●●
195. 968607 c.1597C>A p.P533T missense 0.00001665●●●●●●
196. 1006827 c.6428A>G p.N2143S missense 0.00001665●●●●●●
197. 992119 c.3383A>G p.K1128R missense 0.00001659●●●●●●
198. 1017189 c.6820A>G p.M2274V missense 0.00001657●●●●●●
199. 863135 c.404A>G p.Q135R missense 0.00001656●●●●●●
200. 1017166 c.6797G>T p.G2266V missense 0.00001654●●●●●●
201. 990154 c.3100G>A p.A1034T missense 0.00001653●●●●●●
202. 991130 c.3263C>G p.S1088C missense 0.00001653●●●●●●
203. 970284 c.1726C>T p.R576W missense 0.00001653●●●●●●
204. 1006805 c.6406A>G p.S2136G missense 0.00001653●●●●●●
205. 991123 c.3256G>A p.V1086I missense 0.00001652●●●●●●
206. 990143 c.3089C>T p.S1030F missense 0.00001651●●●●●●
207. 990145 c.3091T>C p.S1031P missense 0.00001651●●●●●●
208. 970290 c.1732G>A p.E578K missense 0.00001651●●●●●●
209. 1006676 c.6277C>T p.R2093C missense 0.00001651●●●●●●
210. 1005255 c.5602G>A p.G1868S missense 0.00001650●●●●●●
211. 1005724 c.6071A>G p.D2024G missense 0.00001649●●●●●●
212. 1006754 c.6355C>T p.P2119S missense 0.00001649●●●●●●
213. 971411 c.2114A>G p.H705R missense 0.00001649●●●●●●
214. 1003764 c.5546G>A p.S1849N missense 0.00001649●●●●●●
215. 987482 c.2328G>T p.Q776H missense 0.00001649●●●●●●
216. 995027 c.5057G>A p.S1686N missense 0.00001649●●●●●●
217. 1005651 c.5998G>C p.E2000Q missense 0.00001648●●●●●●
218. 971381 c.2084C>G p.P695R missense 0.00001648●●●●●●
219. 971402 c.2105C>A p.S702Y missense 0.00001648●●●●●●
220. 994354 c.4384G>C p.G1462R missense 0.00001648●●●●●●
221. 989075 c.2710A>G p.T904A missense 0.00001648●●●●●●
222. 999661 c.5491A>G p.T1831A missense 0.00001648●●●●●●
223. 971260 c.1963G>C p.V655L missense 0.00001648●●●●●●
224. 1017828 c.7019C>T p.T2340M missense 0.00001648●●●●●●
225. 1009722 c.6529G>A p.G2177R missense 0.00001648●●●●●●
226. 994385 c.4415C>T p.P1472L missense 0.00001648●●●●●●
227. 971362 c.2065A>G p.T689A missense 0.00001648●●●●●●
228. 992205 c.3469G>A p.E1157K missense 0.00001648●●●●●●
229. 987498 c.2344G>C p.V782L missense 0.00001648●●●●●●
230. 1005387 c.5734A>G p.I1912V missense 0.00001648●●●●●●
231. 993365 c.3800G>A p.R1267Q missense 0.00001648●●●●●●
232. 971340 c.2043T>G p.H681Q missense 0.00001648●●●●●●
233. 994327 c.4357G>A p.V1453I missense 0.00001648●●●●●●
234. 989893 c.2839C>A p.P947T missense 0.00001648●●●●●●
235. 993818 c.3848C>G p.A1283G missense 0.00001648●●●●●●
236. 1005630 c.5977A>T p.I1993L missense 0.00001648●●●●●●
237. 1005292 c.5639C>T p.A1880V missense 0.00001648●●●●●●
238. 999632 c.5462C>T p.A1821V missense 0.00001648●●●●●●
239. 987503 c.2349G>C p.L783F missense 0.00001648●●●●●●
240. 1005586 c.5933C>T p.S1978F missense 0.00001648●●●●●●
241. 994334 c.4364C>T p.A1455V missense 0.00001648●●●●●●
242. 1017061 c.6692C>T p.A2231V missense 0.00001648●●●●●●
243. 994585 c.4615G>A p.G1539R missense 0.00001647●●●●●●
244. 989942 c.2888C>T p.S963F missense 0.00001647●●●●●●
245. 1009809 c.6616G>C p.V2206L missense 0.00001647●●●●●●
246. 990922 c.3176C>T p.T1059I missense 0.00001647●●●●●●
247. 989034 c.2669C>T p.T890I missense 0.00001647●●●●●●
248. 1003748 c.5530C>T p.P1844S missense 0.00001647●●●●●●
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498. 1017809 c.7000G>A p.G2334S missense 0.00000824●●●●●●
499. 1005484 c.5831G>A p.G1944E missense 0.00000824●●●●●●
500. 996391 c.5285T>C p.L1762P missense 0.00000824●●●●●●
501. 994523 c.4553T>C p.L1518S missense 0.00000824●●●●●●
502. 980431 c.2140G>T p.A714S missense 0.00000824●●●●●●
503. 1017714 c.6905C>T p.S2302F missense 0.00000824●●●●●●
504. 989036 c.2671G>A p.V891M missense 0.00000824●●●●●●
505. 1005378 c.5725C>G p.P1909A missense 0.00000824●●●●●●
506. 993379 c.3814A>G p.K1272E missense 0.00000824●●●●●●
507. 971300 c.2003G>A p.R668Q missense 0.00000824●●●●●●
508. 1003760 c.5542A>G p.T1848A missense 0.00000824●●●●●●
509. 994858 c.4888C>A p.Q1630K missense 0.00000824●●●●●●
510. 994256 c.4286C>T p.P1429L missense 0.00000824●●●●●●
511. 994361 c.4391C>T p.T1464I missense 0.00000824●●●●●●
512. 992703 c.3632G>A p.G1211E missense 0.00000824●●●●●●
513. 990115 c.3061G>A p.G1021R missense 0.00000824●●●●●●
514. 988941 c.2576C>T p.S859L missense 0.00000824●●●●●●
515. 994180 c.4210T>C p.S1404P missense 0.00000824●●●●●●
516. 994001 c.4031C>T p.A1344V missense 0.00000824●●●●●●
517. 990014 c.2960C>T p.T987I missense 0.00000824●●●●●●
518. 970425 c.1867G>A p.V623I missense 0.00000824●●●●●●
519. 998384 c.5443G>A p.V1815I missense 0.00000824●●●●●●
520. 998348 c.5407A>G p.T1803A missense 0.00000824●●●●●●
521. 994060 c.4090A>T p.N1364Y missense 0.00000824●●●●●●
522. 989930 c.2876A>G p.N959S missense 0.00000824●●●●●●
523. 970323 c.1765C>G p.L589V missense 0.00000824●●●●●●
524. 1017894 c.7085T>G p.F2362C missense 0.00000824●●●●●●
525. 996448 c.5342T>C p.F1781S missense 0.00000824●●●●●●
526. 989021 c.2656C>G p.P886A missense 0.00000824●●●●●●
527. 1005561 c.5908A>G p.T1970A missense 0.00000824●●●●●●
528. 994580 c.4610C>A p.T1537K missense 0.00000824●●●●●●
529. 994103 c.4133C>T p.P1378L missense 0.00000824●●●●●●
530. 1005469 c.5816A>T p.Q1939L missense 0.00000824●●●●●●
531. 987408 c.2254C>A p.Q752K missense 0.00000824●●●●●●
532. 994454 c.4484C>G p.T1495S missense 0.00000824●●●●●●
533. 993955 c.3985A>G p.T1329A missense 0.00000824●●●●●●
534. 993854 c.3884C>G p.S1295C missense 0.00000824●●●●●●
535. 989109 c.2744T>C p.L915P missense 0.00000824●●●●●●
536. 1017758 c.6949A>G p.T2317A missense 0.00000824●●●●●●
537. 1006715 c.6316G>C p.G2106R missense 0.00000824●●●●●●
538. 994352 c.4382G>A p.G1461E missense 0.00000824●●●●●●
539. 993293 c.3728C>G p.P1243R missense 0.00000824●●●●●●
540. 971410 c.2113C>T p.H705Y missense 0.00000824●●●●●●
541. 1005333 c.5680G>C p.V1894L missense 0.00000824●●●●●●
542. 1006725 c.6326C>T p.P2109L missense 0.00000824●●●●●●
543. 992633 c.3562G>T p.A1188S missense 0.00000824●●●●●●
544. 990082 c.3028G>A p.V1010I missense 0.00000824●●●●●●
545. 988923 c.2558C>T p.T853M missense 0.00000824●●●●●●
546. 1017075 c.6706C>T p.P2236S missense 0.00000824●●●●●●
547. 988903 c.2538A>G p.I846M missense 0.00000824●●●●●●
548. 971263 c.1966G>T p.D656Y missense 0.00000824●●●●●●
549. 994793 c.4823C>T p.A1608V missense 0.00000824●●●●●●
550. 994663 c.4693G>C p.G1565R missense 0.00000824●●●●●●
551. 994298 c.4328C>G p.S1443C missense 0.00000824●●●●●●
552. 994996 c.5026G>A p.V1676I missense 0.00000824●●●●●●
553. 988854 c.2489C>T p.P830L missense 0.00000824●●●●●●
554. 970350 c.1792G>A p.A598T missense 0.00000824●●●●●●
555. 1009740 c.6547C>A p.Q2183K missense 0.00000824●●●●●●
556. 998314 c.5373A>C p.Q1791H missense 0.00000824●●●●●●
557. 994661 c.4691C>G p.P1564R missense 0.00000824●●●●●●
558. 994169 c.4199T>C p.I1400T missense 0.00000824●●●●●●
559. 994604 c.4634C>G p.S1545C missense 0.00000824●●●●●●
560. 994142 c.4172G>A p.G1391D missense 0.00000824●●●●●●
561. 989996 c.2942C>T p.P981L missense 0.00000824●●●●●●
562. 988863 c.2498C>T p.T833I missense 0.00000824●●●●●●
563. 1005699 c.6046G>A p.A2016T missense 0.00000824●●●●●●
564. 994504 c.4534A>G p.S1512G missense 0.00000824●●●●●●
565. 994003 c.4033G>A p.G1345R missense 0.00000824●●●●●●
566. 1017836 c.7027C>G p.P2343A missense 0.00000824●●●●●●
567. 989139 c.2774C>A p.P925Q missense 0.00000824●●●●●●
568. 987462 c.2308A>G p.T770A missense 0.00000824●●●●●●
569. 1005495 c.5842G>A p.V1948M missense 0.00000824●●●●●●
570. 996400 c.5294G>C p.G1765A missense 0.00000824●●●●●●
571. 989076 c.2711C>T p.T904I missense 0.00000824●●●●●●
572. 1017717 c.6908C>T p.A2303V missense 0.00000824●●●●●●
573. 990919 c.3173C>G p.A1058G missense 0.00000824●●●●●●
574. 989057 c.2692A>T p.T898S missense 0.00000824●●●●●●
575. 1017674 c.6865G>A p.G2289R missense 0.00000824●●●●●●
576. 994447 c.4477T>C p.S1493P missense 0.00000824●●●●●●
577. 1009785 c.6592T>A p.F2198I missense 0.00000824●●●●●●
578. 994416 c.4446C>G p.S1482R missense 0.00000824●●●●●●
579. 993407 c.3842C>T p.T1281I missense 0.00000824●●●●●●
580. 988968 c.2603G>A p.G868D missense 0.00000824●●●●●●
581. 971366 c.2069T>C p.V690A missense 0.00000824●●●●●●
582. 999643 c.5473G>T p.A1825S missense 0.00000824●●●●●●
583. 994868 c.4898C>G p.T1633S missense 0.00000824●●●●●●
584. 994291 c.4321G>A p.V1441I missense 0.00000824●●●●●●
585. 992960 c.3684A>C p.K1228N missense 0.00000824●●●●●●
586. 996396 c.5290G>T p.V1764L missense 0.00000824●●●●●●
587. 990122 c.3068T>C p.L1023S missense 0.00000824●●●●●●
588. 970399 c.1841C>T p.P614L missense 0.00000824●●●●●●
589. 994303 c.4333A>G p.T1445A missense 0.00000824●●●●●●
590. 994708 c.4738C>A p.P1580T missense 0.00000824●●●●●●
591. 990058 c.3004A>G p.N1002D missense 0.00000824●●●●●●
592. 990939 c.3193G>T p.A1065S missense 0.00000824●●●●●●
593. 994139 c.4169C>A p.T1390K missense 0.00000824●●●●●●
594. 1017060 c.6691G>A p.A2231T missense 0.00000824●●●●●●
595. 992161 c.3425G>A p.R1142K missense 0.00000824●●●●●●
596. 990028 c.2974C>G p.P992A missense 0.00000824●●●●●●
597. 988886 c.2521G>T p.V841F missense 0.00000824●●●●●●
598. 1017037 c.6668G>C p.G2223A missense 0.00000824●●●●●●
599. 999641 c.5471C>A p.T1824K missense 0.00000824●●●●●●
600. 994765 c.4795A>G p.S1599G missense 0.00000824●●●●●●
601. 989939 c.2885C>G p.P962R missense 0.00000824●●●●●●
602. 970323 c.1765C>T p.L589F missense 0.00000824●●●●●●
603. 1009712 c.6519C>G p.I2173M missense 0.00000824●●●●●●
604. 989921 c.2867G>C p.G956A missense 0.00000824●●●●●●
605. 996418 c.5312G>C p.G1771A missense 0.00000824●●●●●●
606. 994582 c.4612A>G p.T1538A missense 0.00000824●●●●●●
607. 1006719 c.6320A>T p.K2107M missense 0.00000824●●●●●●
608. 1005474 c.5821A>G p.T1941A missense 0.00000824●●●●●●
609. 987418 c.2264T>A p.V755E missense 0.00000824●●●●●●
610. 971329 c.2032G>A p.G678S missense 0.00000824●●●●●●
611. 1005427 c.5774C>G p.A1925G missense 0.00000824●●●●●●
612. 993961 c.3991C>A p.P1331T missense 0.00000824●●●●●●
613. 990951 c.3205G>C p.D1069H missense 0.00000824●●●●●●
614. 989112 c.2747A>T p.Q916L missense 0.00000824●●●●●●
615. 993368 c.3803T>C p.L1268S missense 0.00000824●●●●●●
616. 993298 c.3733A>G p.S1245G missense 0.00000824●●●●●●
617. 990876 c.3130C>A p.Q1044K missense 0.00000824●●●●●●
618. 989033 c.2668A>C p.T890P missense 0.00000824●●●●●●
619. 1005337 c.5684T>C p.L1895P missense 0.00000824●●●●●●
620. 971396 c.2099C>T p.A700V missense 0.00000824●●●●●●
621. 994702 c.4732T>G p.S1578A missense 0.00000824●●●●●●
622. 994231 c.4261G>A p.V1421I missense 0.00000824●●●●●●
623. 971303 c.2006T>G p.V669G missense 0.00000824●●●●●●
624. 988916 c.2551G>T p.V851L missense 0.00000824●●●●●●
625. 971279 c.1982C>A p.S661Y missense 0.00000824●●●●●●
626. 994418 c.4448C>T p.T1483I missense 0.00000824●●●●●●
627. 994246 c.4276A>G p.T1426A missense 0.00000824●●●●●●
628. 992718 c.3647G>A p.G1216D missense 0.00000824●●●●●●
629. 1009789 c.6596C>T p.T2199I missense 0.00000824●●●●●●
630. 988854 c.2489C>A p.P830Q missense 0.00000824●●●●●●
631. 970354 c.1796C>T p.S599F missense 0.00000824●●●●●●
632. 1005685 c.6032C>T p.S2011F missense 0.00000824●●●●●●
633. 998328 c.5387T>C p.L1796P missense 0.00000824●●●●●●
634. 994673 c.4703A>C p.H1568P missense 0.00000824●●●●●●
635. 994171 c.4201C>T p.P1401S missense 0.00000824●●●●●●
636. 988875 c.2510C>T p.P837L missense 0.00000824●●●●●●
637. 1005520 c.5867G>A p.G1956D missense 0.00000824●●●●●●
638. 996400 c.5294G>A p.G1765D missense 0.00000824●●●●●●
639. 994061 c.4091A>G p.N1364S missense 0.00000824●●●●●●
640. 987422 c.2268G>T p.Q756H missense 0.00000824●●●●●●
641. 994514 c.4544C>T p.T1515I missense 0.00000824●●●●●●
642. 994013 c.4043C>T p.T1348I missense 0.00000824●●●●●●
643. 989894 c.2840C>A p.P947Q missense 0.00000824●●●●●●
644. 1017842 c.7033C>A p.P2345T missense 0.00000824●●●●●●
645. 989148 c.2783T>C p.L928P missense 0.00000824●●●●●●
646. 1017768 c.6959T>C p.M2320T missense 0.00000824●●●●●●
647. 994442 c.4472C>T p.S1491L missense 0.00000824●●●●●●
648. 993409 c.3844G>C p.V1282L missense 0.00000824●●●●●●
649. 990931 c.3185C>T p.T1062I missense 0.00000824●●●●●●
650. 989104 c.2739G>C p.Q913H missense 0.00000824●●●●●●
651. 1017722 c.6913A>T p.I2305F missense 0.00000824●●●●●●
652. 1006710 c.6311A>G p.K2104R missense 0.00000824●●●●●●
653. 989060 c.2695C>T p.L899F missense 0.00000824●●●●●●
654. 980495 c.2204C>A p.P735H missense 0.00000824●●●●●●
655. 1005384 c.5731G>A p.G1911S missense 0.00000824●●●●●●
656. 994448 c.4478C>T p.S1493F missense 0.00000824●●●●●●
657. 988976 c.2611C>G p.Q871E missense 0.00000824●●●●●●
658. 971371 c.2074G>C p.G692R missense 0.00000824●●●●●●
659. 994972 c.5002T>G p.S1668A missense 0.00000824●●●●●●
660. 999666 c.5496G>T p.Q1832H missense 0.00000824●●●●●●
661. 994874 c.4904G>T p.C1635F missense 0.00000824●●●●●●
662. 994295 c.4325T>C p.V1442A missense 0.00000824●●●●●●
663. 999650 c.5480C>T p.T1827I missense 0.00000824●●●●●●
664. 994769 c.4799T>C p.I1600T missense 0.00000824●●●●●●
665. 994607 c.4637C>T p.A1546V missense 0.00000824●●●●●●
666. 994732 c.4762C>G p.P1588A missense 0.00000824●●●●●●
667. 990061 c.3007C>T p.L1003F missense 0.00000824●●●●●●
668. 970432 c.1874C>T p.T625I missense 0.00000824●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.