WNK1 variants in ExAC

WNK1 gene summary
WNK1 variants in

The table below lists the WNK1 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. 968400 c.1401-11C>A splice site 0.14923110●●●●●●
6. 992229 c.3489+4C>T splice site 0.11832935●●●●●●
7. 971291 c.1994C>T p.T665I missense 0.06388710●●●●●●
8. 999638 c.5468C>T p.P1823L missense 0.01673285●●●●●●
9. 970297 c.1739delA p.Lys583SerfsTer11 frameshift 0.01067778●●●●●●
10. 992556 c.3490-5T>A splice site 0.00501733●●●●●●
11. 971378 c.2081T>C p.I694T missense 0.00472911●●●●●●
12. 968536 c.1526T>C p.I509T missense 0.00465321●●●●●●
13. 863177 c.446C>T p.A149V missense 0.00456392●●●●●●
14. 1003758 c.5540_5548delCAACTAGTT p.Thr1848_Ser1850del inframe 0.00330297●●●●●●
15. 996383 c.5281-4G>A splice site 0.00260271●●●●●●
16. 971317 c.2020A>G p.T674A missense 0.00257023●●●●●●
17. 970297 c.1739dupA p.Gln584AlafsTer27 frameshift 0.00234561●●●●●●
18. 994324 c.4354A>G p.T1452A missense 0.00215063●●●●●●
19. 980497 c.2206A>G p.I736V missense 0.00210939●●●●●●
20. 994573 c.4603_4605delAGC p.S1535del1 inframe 0.00209219●●●●●●
21. 1005685 c.6032C>A p.S2011Y missense 0.00114569●●●●●●
22. 990848 c.3112-10C>T splice site 0.00103983●●●●●●
23. 1003804 c.5583+3A>G splice site 0.00095547●●●●●●
24. 1005486 c.5833C>T p.R1945C missense 0.00079900●●●●●●
25. 970413 c.1855A>G p.T619A missense 0.00075826●●●●●●
26. 987490 c.2336C>T p.A779V missense 0.00062614●●●●●●
27. 863309 c.578C>A p.P193Q missense 0.00049962●●●●●●
28. 994534 c.4564G>A p.V1522M missense 0.00044482●●●●●●
29. 863221 c.490C>T p.R164C missense 0.00043673●●●●●●
30. 1017830 c.7021G>A p.G2341S missense 0.00043657●●●●●●
31. 992649 c.3578G>A p.S1193N missense 0.00042831●●●●●●
32. 1009817 c.6624C>A p.S2208R missense 0.00042012●●●●●●
33. 1005522 c.5869C>T p.R1957C missense 0.00040363●●●●●●
34. 992587 c.3516A>G p.I1172M missense 0.00037089●●●●●●
35. 988833 c.2468A>G p.H823R missense 0.00035420●●●●●●
36. 863408 c.677A>T p.E226V missense 0.00031703●●●●●●
37. 863128 c.397G>A p.V133I missense 0.00027075●●●●●●
38. 995179 c.5209C>G p.P1737A missense 0.00026788●●●●●●
39. 1005291 c.5638G>A p.A1880T missense 0.00026363●●●●●●
40. 988824 c.2459C>G p.S820C missense 0.00026358●●●●●●
41. 994550 c.4580A>G p.H1527R missense 0.00025535●●●●●●
42. 994552 c.4582T>A p.S1528T missense 0.00025535●●●●●●
43. 1005621 c.5968C>T p.P1990S missense 0.00024715●●●●●●
44. 990073 c.3019A>G p.M1007V missense 0.00021415●●●●●●
45. 992557 c.3490-4A>G splice site 0.00019803●●●●●●
46. 991183 c.3316G>C p.V1106L missense 0.00019592●●●●●●
47. 1005523 c.5870G>A p.R1957H missense 0.00018946●●●●●●
48. 990934 c.3188C>T p.T1063I missense 0.00018944●●●●●●
49. 970392 c.1834G>A p.G612S missense 0.00018132●●●●●●
50. 991083 c.3216T>G p.H1072Q missense 0.00017366●●●●●●
51. 988766 c.2401A>G p.I801V missense 0.00017307●●●●●●
52. 990070 c.3016C>T p.P1006S missense 0.00017296●●●●●●
53. 1005504 c.5851A>G p.T1951A missense 0.00015651●●●●●●
54. 989007 c.2642C>T p.T881I missense 0.00015650●●●●●●
55. 1017947 c.7138C>T p.R2380W missense 0.00014147●●●●●●
56. 987402 c.2248C>A p.P750T missense 0.00014004●●●●●●
57. 987444 c.2290A>G p.T764A missense 0.00013180●●●●●●
58. 993829 c.3859G>T p.A1287S missense 0.00013180●●●●●●
59. 863086 c.355C>A p.P119T missense 0.00012973●●●●●●
60. 1005367 c.5714T>A p.V1905E missense 0.00012358●●●●●●
61. 1005373 c.5720C>T p.P1907L missense 0.00012357●●●●●●
62. 996418 c.5312G>T p.G1771V missense 0.00012355●●●●●●
63. 991159 c.3292A>G p.T1098A missense 0.00010828●●●●●●
64. 1017932 c.7123C>T p.P2375S missense 0.00009934●●●●●●
65. 992974 c.3698C>T p.A1233V missense 0.00009894●●●●●●
66. 994502 c.4532G>A p.S1511N missense 0.00009885●●●●●●
67. 987420 c.2266C>G p.Q756E missense 0.00009885●●●●●●
68. 995056 c.5086G>A p.A1696T missense 0.00009165●●●●●●
69. 1017767 c.6958A>G p.M2320V missense 0.00009061●●●●●●
70. 994240 c.4270A>G p.I1424V missense 0.00009061●●●●●●
71. 994201 c.4231A>T p.S1411C missense 0.00009060●●●●●●
72. 988932 c.2567C>A p.T856K missense 0.00009060●●●●●●
73. 862862 c.131C>T p.A44V missense 0.00008940●●●●●●
74. 863026 c.295C>T p.P99S missense 0.00008826●●●●●●
75. 1017956 c.7147T>A p.X2383K missense 0.00008361●●●●●●
76. 1005394 c.5741T>C p.I1914T missense 0.00008238●●●●●●
77. 1005624 c.5971G>T p.A1991S missense 0.00008238●●●●●●
78. 863203 c.472A>T p.S158C missense 0.00007758●●●●●●
79. 993371 c.3806G>A p.R1269Q missense 0.00007414●●●●●●
80. 1003731 c.5513C>T p.S1838F missense 0.00007414●●●●●●
81. 992636 c.3565G>A p.D1189N missense 0.00007413●●●●●●
82. 994100 c.4130T>A p.V1377E missense 0.00007413●●●●●●
83. 988884 c.2519C>T p.P840L missense 0.00007413●●●●●●
84. 922913 c.865T>C p.S289P missense 0.00006631●●●●●●
85. 970327 c.1769A>G p.K590R missense 0.00006594●●●●●●
86. 994457 c.4487C>G p.T1496S missense 0.00006592●●●●●●
87. 980485 c.2194T>C p.S732P missense 0.00006591●●●●●●
88. 988985 c.2620C>T p.L874F missense 0.00006589●●●●●●
89. 863027 c.296C>T p.P99L missense 0.00006179●●●●●●
90. 995191 c.5221A>G p.T1741A missense 0.00006001●●●●●●
91. 995038 c.5068C>G p.P1690A missense 0.00005789●●●●●●
92. 1005748 c.6095C>T p.S2032L missense 0.00005778●●●●●●
93. 995020 c.5050A>G p.I1684V missense 0.00005769●●●●●●
94. 993983 c.4013C>G p.P1338R missense 0.00005766●●●●●●
95. 988787 c.2422C>T p.P808S missense 0.00005766●●●●●●
96. 863158 c.427C>T p.P143S missense 0.00005649●●●●●●
97. 995249 c.5279C>T p.P1760L missense 0.00005056●●●●●●
98. 1005745 c.6092A>G p.H2031R missense 0.00004951●●●●●●
99. 992579 c.3508C>G p.L1170V missense 0.00004947●●●●●●
100. 1017003 c.6644-10C>T splice site 0.00004946●●●●●●
101. 970378 c.1820C>A p.P607H missense 0.00004945●●●●●●
102. 1005379 c.5726C>T p.P1909L missense 0.00004943●●●●●●
103. 1017692 c.6883A>T p.M2295L missense 0.00004943●●●●●●
104. 1005387 c.5734A>C p.I1912L missense 0.00004943●●●●●●
105. 993869 c.3899C>T p.S1300F missense 0.00004942●●●●●●
106. 1017744 c.6935C>G p.S2312C missense 0.00004942●●●●●●
107. 863077 c.346C>T p.P116S missense 0.00004489●●●●●●
108. 863106 c.375_376insACCGCC p.Val125_Thr126insThrAla inframe 0.00004370●●●●●●
109. 995159 c.5189C>T p.T1730I missense 0.00004344●●●●●●
110. 995114 c.5144A>G p.N1715S missense 0.00004312●●●●●●
111. 862940 c.209C>G p.A70G missense 0.00004309●●●●●●
112. 989196 c.2831A>G p.Q944R missense 0.00004184●●●●●●
113. 990153 c.3099A>C p.Q1033H missense 0.00004132●●●●●●
114. 991126 c.3259C>T p.P1087S missense 0.00004130●●●●●●
115. 991115 c.3248A>G p.N1083S missense 0.00004129●●●●●●
116. 1005742 c.6089C>G p.P2030R missense 0.00004126●●●●●●
117. 998390 c.5448+1_5448+2insT essential splice site 0.00004120●●●●●●
118. 994105 c.4135A>G p.T1379A missense 0.00004119●●●●●●
119. 992685 c.3614G>A p.G1205E missense 0.00004119●●●●●●
120. 1017704 c.6895C>G p.L2299V missense 0.00004119●●●●●●
121. 996432 c.5326G>A p.E1776K missense 0.00004118●●●●●●
122. 994786 c.4816C>G p.P1606A missense 0.00004118●●●●●●
123. 988817 c.2452G>A p.V818I missense 0.00004118●●●●●●
124. 863194 c.463A>C p.T155P missense 0.00004038●●●●●●
125. 995256 c.5280+6_5280+8delATT splice site 0.00003403●●●●●●
126. 1005241 c.5588C>T p.S1863F missense 0.00003306●●●●●●
127. 970513 c.1951+4C>T splice site 0.00003304●●●●●●
128. 1006776 c.6377G>A p.R2126Q missense 0.00003299●●●●●●
129. 1009690 c.6497C>T p.T2166I missense 0.00003299●●●●●●
130. 994358 c.4388G>A p.S1463N missense 0.00003297●●●●●●
131. 970345 c.1787C>T p.S596F missense 0.00003296●●●●●●
132. 994306 c.4336G>A p.A1446T missense 0.00003296●●●●●●
133. 993905 c.3935G>A p.R1312H missense 0.00003295●●●●●●
134. 996460 c.5354C>G p.S1785C missense 0.00003295●●●●●●
135. 988794 c.2429C>T p.A810V missense 0.00003295●●●●●●
136. 993902 c.3932G>T p.R1311I missense 0.00003295●●●●●●
137. 989016 c.2651C>T p.A884V missense 0.00003295●●●●●●
138. 994796 c.4826A>G p.N1609S missense 0.00003295●●●●●●
139. 988889 c.2524T>G p.S842A missense 0.00003295●●●●●●
140. 990948 c.3202G>C p.V1068L missense 0.00003295●●●●●●
141. 993904 c.3934C>T p.R1312C missense 0.00003295●●●●●●
142. 1017867 c.7058C>A p.P2353H missense 0.00003295●●●●●●
143. 1017034 c.6665T>C p.V2222A missense 0.00003295●●●●●●
144. 863132 c.401C>T p.A134V missense 0.00003086●●●●●●
145. 863123 c.392C>G p.S131C missense 0.00002986●●●●●●
146. 863116 c.385G>A p.A129T missense 0.00002872●●●●●●
147. 862778 c.47T>A p.L16Q missense 0.00002633●●●●●●
148. 995147 c.5177C>T p.T1726I missense 0.00002610●●●●●●
149. 862928 c.197G>T p.R66L missense 0.00002606●●●●●●
150. 995228 c.5258A>G p.K1753R missense 0.00002517●●●●●●
151. 968404 c.1401-7T>C splice site 0.00002495●●●●●●
152. 1005820 c.6167C>T p.S2056F missense 0.00002491●●●●●●
153. 1005805 c.6152G>A p.S2051N missense 0.00002487●●●●●●
154. 1005790 c.6137T>C p.L2046P missense 0.00002482●●●●●●
155. 1006677 c.6278G>A p.R2093H missense 0.00002476●●●●●●
156. 971416 c.2119G>T p.V707L missense 0.00002475●●●●●●
157. 1005682 c.6029C>T p.P2010L missense 0.00002473●●●●●●
158. 970431 c.1873A>G p.T625A missense 0.00002473●●●●●●
159. 992585 c.3514A>G p.I1172V missense 0.00002473●●●●●●
160. 992149 c.3413A>G p.E1138G missense 0.00002473●●●●●●
161. 992976 c.3700T>C p.S1234P missense 0.00002473●●●●●●
162. 971258 c.1961C>T p.T654M missense 0.00002473●●●●●●
163. 993295 c.3730A>G p.T1244A missense 0.00002473●●●●●●
164. 992730 c.3659C>T p.S1220F missense 0.00002473●●●●●●
165. 980495 c.2204C>T p.P735L missense 0.00002472●●●●●●
166. 989889 c.2835C>T splice site 0.00002472●●●●●●
167. 1017085 c.6716C>T p.T2239M missense 0.00002472●●●●●●
168. 992598 c.3527C>T p.S1176L missense 0.00002472●●●●●●
169. 989132 c.2767G>A p.G923R missense 0.00002472●●●●●●
170. 988763 c.2398A>G p.T800A missense 0.00002472●●●●●●
171. 971261 c.1964T>C p.V655A missense 0.00002472●●●●●●
172. 971389 c.2092G>A p.V698I missense 0.00002472●●●●●●
173. 990874 c.3128C>G p.S1043C missense 0.00002472●●●●●●
174. 999662 c.5492C>G p.T1831R missense 0.00002472●●●●●●
175. 988910 c.2545C>T p.P849S missense 0.00002471●●●●●●
176. 1017795 c.6986C>T p.P2329L missense 0.00002471●●●●●●
177. 989049 c.2684A>G p.Q895R missense 0.00002471●●●●●●
178. 988901 c.2536A>G p.I846V missense 0.00002471●●●●●●
179. 994204 c.4234G>A p.V1412I missense 0.00002471●●●●●●
180. 996430 c.5324G>A p.S1775N missense 0.00002471●●●●●●
181. 988822 c.2457C>G p.H819Q missense 0.00002471●●●●●●
182. 988922 c.2557A>G p.T853A missense 0.00002471●●●●●●
183. 987474 c.2320G>A p.V774M missense 0.00002471●●●●●●
184. 993847 c.3877A>T p.N1293Y missense 0.00002471●●●●●●
185. 987421 c.2267A>G p.Q756R missense 0.00002471●●●●●●
186. 987450 c.2296A>G p.S766G missense 0.00002471●●●●●●
187. 988883 c.2518C>T p.P840S missense 0.00002471●●●●●●
188. 994546 c.4576G>A p.A1526T missense 0.00002471●●●●●●
189. 990945 c.3199T>C p.S1067P missense 0.00002471●●●●●●
190. 989028 c.2663T>C p.V888A missense 0.00002471●●●●●●
191. 989022 c.2657C>T p.P886L missense 0.00002471●●●●●●
192. 994217 c.4247T>C p.I1416T missense 0.00002471●●●●●●
193. 863086 c.355C>T p.P119S missense 0.00002359●●●●●●
194. 863072 c.341G>T p.S114I missense 0.00002177●●●●●●
195. 863189 c.458C>T p.P153L missense 0.00002049●●●●●●
196. 863059 c.328G>A p.A110T missense 0.00002029●●●●●●
197. 863197 c.466G>A p.V156I missense 0.00001999●●●●●●
198. 863200 c.469C>T p.P157S missense 0.00001971●●●●●●
199. 862859 c.128C>G p.A43G missense 0.00001794●●●●●●
200. 862736 c.5C>T p.S2F missense 0.00001774●●●●●●
201. 922987 c.932+7T>A splice site 0.00001767●●●●●●
202. 862793 c.62C>T p.P21L missense 0.00001757●●●●●●
203. 991193 c.3326G>A p.R1109H missense 0.00001752●●●●●●
204. 995134 c.5164G>A p.A1722T missense 0.00001736●●●●●●
205. 863324 c.593G>A p.S198N missense 0.00001708●●●●●●
206. 863328 c.597G>C p.Q199H missense 0.00001700●●●●●●
207. 863141 c.410C>T p.P137L missense 0.00001699●●●●●●
208. 863224 c.493C>A p.P165T missense 0.00001685●●●●●●
209. 995070 c.5100C>G p.S1700R missense 0.00001683●●●●●●
210. 995225 c.5255C>A p.S1752Y missense 0.00001680●●●●●●
211. 863492 c.759+2_759+3insAAAG splice site 0.00001677●●●●●●
212. 991165 c.3298C>T p.R1100W missense 0.00001672●●●●●●
213. 1005841 c.6188A>G p.N2063S missense 0.00001667●●●●●●
214. 968613 c.1603G>C p.D535H missense 0.00001666●●●●●●
215. 1006827 c.6428A>G p.N2143S missense 0.00001665●●●●●●
216. 968607 c.1597C>A p.P533T missense 0.00001665●●●●●●
217. 1017633 c.6832-8G>A splice site 0.00001662●●●●●●
218. 992119 c.3383A>G p.K1128R missense 0.00001659●●●●●●
219. 971443 c.2139+7A>G splice site 0.00001658●●●●●●
220. 1017189 c.6820A>G p.M2274V missense 0.00001657●●●●●●
221. 863135 c.404A>G p.Q135R missense 0.00001656●●●●●●
222. 1017166 c.6797G>T p.G2266V missense 0.00001654●●●●●●
223. 1006805 c.6406A>G p.S2136G missense 0.00001653●●●●●●
224. 990154 c.3100G>A p.A1034T missense 0.00001653●●●●●●
225. 970284 c.1726C>T p.R576W missense 0.00001653●●●●●●
226. 991130 c.3263C>G p.S1088C missense 0.00001653●●●●●●
227. 991123 c.3256G>A p.V1086I missense 0.00001652●●●●●●
228. 1006676 c.6277C>T p.R2093C missense 0.00001651●●●●●●
229. 990143 c.3089C>T p.S1030F missense 0.00001651●●●●●●
230. 970290 c.1732G>A p.E578K missense 0.00001651●●●●●●
231. 990145 c.3091T>C p.S1031P missense 0.00001651●●●●●●
232. 1005255 c.5602G>A p.G1868S missense 0.00001650●●●●●●
233. 971411 c.2114A>G p.H705R missense 0.00001649●●●●●●
234. 1003764 c.5546G>A p.S1849N missense 0.00001649●●●●●●
235. 993812 c.3845-3C>T splice site 0.00001649●●●●●●
236. 987482 c.2328G>T p.Q776H missense 0.00001649●●●●●●
237. 995027 c.5057G>A p.S1686N missense 0.00001649●●●●●●
238. 1005724 c.6071A>G p.D2024G missense 0.00001649●●●●●●
239. 1006754 c.6355C>T p.P2119S missense 0.00001649●●●●●●
240. 989885 c.2833-2A>G essential splice site 0.00001649●●●●●●
241. 994354 c.4384G>C p.G1462R missense 0.00001648●●●●●●
242. 971340 c.2043T>G p.H681Q missense 0.00001648●●●●●●
243. 1005586 c.5933C>T p.S1978F missense 0.00001648●●●●●●
244. 1005630 c.5977A>T p.I1993L missense 0.00001648●●●●●●
245. 987503 c.2349G>C p.L783F missense 0.00001648●●●●●●
246. 971381 c.2084C>G p.P695R missense 0.00001648●●●●●●
247. 1005292 c.5639C>T p.A1880V missense 0.00001648●●●●●●
248. 994334 c.4364C>T p.A1455V missense 0.00001648●●●●●●
249. 1017061 c.6692C>T p.A2231V missense 0.00001648●●●●●●
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547. 1005520 c.5867G>A p.G1956D missense 0.00000824●●●●●●
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550. 994514 c.4544C>T p.T1515I missense 0.00000824●●●●●●
551. 994013 c.4043C>T p.T1348I missense 0.00000824●●●●●●
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553. 992648 c.3577A>G p.S1193G missense 0.00000824●●●●●●
554. 1005384 c.5731G>A p.G1911S missense 0.00000824●●●●●●
555. 994442 c.4472C>T p.S1491L missense 0.00000824●●●●●●
556. 993409 c.3844G>C p.V1282L missense 0.00000824●●●●●●
557. 990931 c.3185C>T p.T1062I missense 0.00000824●●●●●●
558. 990963 c.3209+8A>G splice site 0.00000824●●●●●●
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560. 989060 c.2695C>T p.L899F missense 0.00000824●●●●●●
561. 980495 c.2204C>A p.P735H missense 0.00000824●●●●●●
562. 936338 c.1063A>G p.I355V missense 0.00000824●●●●●●
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565. 1006725 c.6326C>T p.P2109L missense 0.00000824●●●●●●
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567. 988976 c.2611C>G p.Q871E missense 0.00000824●●●●●●
568. 971371 c.2074G>C p.G692R missense 0.00000824●●●●●●
569. 971316 c.2019G>C p.Q673H missense 0.00000824●●●●●●
570. 1005586 c.5933_5935delCTC p.Pro1980del inframe 0.00000824●●●●●●
571. 992184 c.3448G>A p.D1150N missense 0.00000824●●●●●●
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629. 994579 c.4609A>G p.T1537A missense 0.00000824●●●●●●
630. 989021 c.2656C>G p.P886A missense 0.00000824●●●●●●
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670. 993986 c.4016T>C p.F1339S missense 0.00000824●●●●●●
671. 993955 c.3985A>G p.T1329A missense 0.00000824●●●●●●
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701. 994060 c.4090A>T p.N1364Y missense 0.00000824●●●●●●
702. 989930 c.2876A>G p.N959S missense 0.00000824●●●●●●
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708. 1006715 c.6316G>C p.G2106R missense 0.00000824●●●●●●
709. 989076 c.2711C>T p.T904I missense 0.00000824●●●●●●
710. 987408 c.2254C>A p.Q752K missense 0.00000824●●●●●●
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721. 992633 c.3562G>T p.A1188S missense 0.00000824●●●●●●
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726. 990058 c.3004A>G p.N1002D missense 0.00000824●●●●●●
727. 988903 c.2538A>G p.I846M missense 0.00000824●●●●●●
728. 971263 c.1966G>T p.D656Y missense 0.00000824●●●●●●
729. 1017060 c.6691G>A p.A2231T missense 0.00000824●●●●●●
730. 994793 c.4823C>T p.A1608V 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.