WNK4 variants in ExAC

WNK4 gene summary
WNK4 variants in

The table below lists the WNK4 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. 40947320 c.2881C>T p.P961S missense 0.04071339●●●●●●
2. 40939855 c.1801G>T p.A601S missense 0.04049916●●●●●●
3. 40947694 c.3074C>T p.P1025L missense 0.00989993●●●●●●
4. 40946913 c.2474C>T p.P825L missense 0.00822157●●●●●●
5. 40948319 c.3610C>T p.R1204C missense 0.00635718●●●●●●
6. 40932955 c.239C>A p.A80D missense 0.00610401●●●●●●
7. 40947871 c.3251T>C p.V1084A missense 0.00417774●●●●●●
8. 40947111 c.2672C>T p.T891M missense 0.00361579●●●●●●
9. 40939483 c.1664C>G p.P555R missense 0.00332010●●●●●●
10. 40940414 c.2029C>T p.R677W missense 0.00310916●●●●●●
11. 40932732 c.16G>A p.A6T missense 0.00275198●●●●●●
12. 40946808 c.2369C>A p.T790N missense 0.00252126●●●●●●
13. 40945676 c.2224C>G p.Q742E missense 0.00173820●●●●●●
14. 40946852 c.2413_2415delTCT p.S805del1 inframe 0.00173794●●●●●●
15. 40934836 c.679G>T p.G227W missense 0.00096531●●●●●●
16. 40940137 c.1864-11T>C splice site 0.00079900●●●●●●
17. 40939907 c.1853G>T p.C618F missense 0.00079816●●●●●●
18. 40946915 c.2476G>A p.G826S missense 0.00070038●●●●●●
19. 40948304 c.3595C>A p.R1199S missense 0.00067321●●●●●●
20. 40945659 c.2207G>A p.R736Q missense 0.00059316●●●●●●
21. 40939342 c.1523G>A p.R508H missense 0.00055282●●●●●●
22. 40940172 c.1888T>C p.S630P missense 0.00050246●●●●●●
23. 40939485 c.1666C>A p.P556T missense 0.00039546●●●●●●
24. 40947634 c.3023-9G>A splice site 0.00037918●●●●●●
25. 40940169 c.1885C>T p.R629C missense 0.00037067●●●●●●
26. 40947281 c.2842C>A p.L948I missense 0.00032135●●●●●●
27. 40948560 c.3693C>G p.S1231R missense 0.00027248●●●●●●
28. 40932753 c.37A>G p.M13V missense 0.00026702●●●●●●
29. 40937438 c.1414C>G p.Q472E missense 0.00024460●●●●●●
30. 40932879 c.163C>T p.R55C missense 0.00023737●●●●●●
31. 40932763 c.47C>T p.T16I missense 0.00021464●●●●●●
32. 40939854 c.1800delT p.Ala601ProfsX60 frameshift 0.00021372●●●●●●
33. 40934959 c.791+11C>T splice site 0.00021297●●●●●●
34. 40939923 c.1863+6delA splice site 0.00020629●●●●●●
35. 40948227 c.3518C>A p.P1173Q missense 0.00020362●●●●●●
36. 40932814 c.98A>T p.Q33L missense 0.00019249●●●●●●
37. 40937415 c.1391G>C p.R464P missense 0.00019032●●●●●●
38. 40948262 c.3553C>T p.R1185C missense 0.00018688●●●●●●
39. 40947802 c.3182G>C p.G1061A missense 0.00018163●●●●●●
40. 40945665 c.2213G>A p.R738Q missense 0.00015654●●●●●●
41. 40940821 c.2157+6G>C splice site 0.00015652●●●●●●
42. 40939350 c.1531C>T p.R511C missense 0.00014846●●●●●●
43. 40947185 c.2746C>T p.P916S missense 0.00014826●●●●●●
44. 40932898 c.182G>A p.R61H missense 0.00014786●●●●●●
45. 40948188 c.3479T>C p.I1160T missense 0.00014114●●●●●●
46. 40947652 c.3032C>G p.P1011R missense 0.00014021●●●●●●
47. 40945619 c.2167G>A p.E723K missense 0.00014013●●●●●●
48. 40940391 c.2006G>A p.R669Q missense 0.00013261●●●●●●
49. 40939329 c.1510C>T p.Q504X nonsense 0.00013209●●●●●●
50. 40940717 c.2059_2060delAG p.Arg687SerfsTer3 frameshift 0.00013180●●●●●●
51. 40947110 c.2671A>G p.T891A missense 0.00013178●●●●●●
52. 40939916 c.1862C>T p.S621L missense 0.00012885●●●●●●
53. 40939876 c.1822G>A p.V608M missense 0.00012849●●●●●●
54. 40948576 c.3709G>T p.A1237S missense 0.00012369●●●●●●
55. 40946821 c.2382C>G p.H794Q missense 0.00012359●●●●●●
56. 40948302 c.3593G>A p.R1198H missense 0.00012305●●●●●●
57. 40932858 c.142G>C p.G48R missense 0.00011728●●●●●●
58. 40937347 c.1323A>T p.E441D missense 0.00011651●●●●●●
59. 40946684 c.2348A>G p.N783S missense 0.00011563●●●●●●
60. 40939393 c.1574G>A p.R525H missense 0.00011536●●●●●●
61. 40940194 c.1910C>T p.S637F missense 0.00011532●●●●●●
62. 40947027 c.2588T>G p.L863R missense 0.00011531●●●●●●
63. 40947008 c.2569C>T p.H857Y missense 0.00011531●●●●●●
64. 40933099 c.383C>G p.P128R missense 0.00009159●●●●●●
65. 40934857 c.700G>A p.V234I missense 0.00009074●●●●●●
66. 40939392 c.1573C>G p.R525G missense 0.00009063●●●●●●
67. 40932871 c.155C>T p.P52L missense 0.00008674●●●●●●
68. 40947344 c.2905G>A p.V969I missense 0.00008240●●●●●●
69. 40947332 c.2893C>T p.L965F missense 0.00008239●●●●●●
70. 40945664 c.2212C>T p.R738W missense 0.00008238●●●●●●
71. 40940199 c.1915G>A p.G639R missense 0.00008237●●●●●●
72. 40936482 c.1055A>C p.Y352S missense 0.00007715●●●●●●
73. 40934873 c.716C>G p.S239W missense 0.00007427●●●●●●
74. 40948036 c.3416_3417delAG p.Leu1141SerfsTer20 frameshift 0.00007418●●●●●●
75. 40945680 c.2228G>A p.R743Q missense 0.00007414●●●●●●
76. 40947204 c.2765C>T p.P922L missense 0.00007413●●●●●●
77. 40937429 c.1405C>T p.R469W missense 0.00007296●●●●●●
78. 40939294 c.1477-2A>G essential splice site 0.00006646●●●●●●
79. 40933192 c.476A>G p.D159G missense 0.00006640●●●●●●
80. 40939299 c.1480G>A p.A494T missense 0.00006639●●●●●●
81. 40939341 c.1522C>T p.R508C missense 0.00006602●●●●●●
82. 40939485 c.1666C>G p.P556A missense 0.00006591●●●●●●
83. 40933008 c.292C>A p.P98T missense 0.00006395●●●●●●
84. 40932962 c.246C>A p.D82E missense 0.00006306●●●●●●
85. 40939883 c.1829C>T p.S610F missense 0.00005994●●●●●●
86. 40947652 c.3032C>T p.P1011L missense 0.00005773●●●●●●
87. 40937376 c.1352C>T p.P451L missense 0.00005624●●●●●●
88. 40932954 c.238G>A p.A80T missense 0.00005383●●●●●●
89. 40937473 c.1449C>G p.D483E missense 0.00005140●●●●●●
90. 40934939 c.782C>T p.T261M missense 0.00005100●●●●●●
91. 40948227 c.3518C>T p.P1173L missense 0.00005091●●●●●●
92. 40940408 c.2023C>T p.R675W missense 0.00005048●●●●●●
93. 40948183 c.3474A>T p.K1158N missense 0.00004977●●●●●●
94. 40934779 c.622C>T p.R208W missense 0.00004974●●●●●●
95. 40940390 c.2005C>T p.R669W missense 0.00004972●●●●●●
96. 40939434 c.1615C>T p.P539S missense 0.00004943●●●●●●
97. 40946886 c.2447C>G p.P816R missense 0.00004942●●●●●●
98. 40933029 c.313C>A p.P105T missense 0.00004625●●●●●●
99. 40937185 c.1241G>C p.R414P missense 0.00004474●●●●●●
100. 40948232 c.3523A>G p.I1175V missense 0.00004268●●●●●●
101. 40940409 c.2024G>A p.R675Q missense 0.00004208●●●●●●
102. 40936148 c.985C>T p.R329C missense 0.00004139●●●●●●
103. 40946658 c.2322_2323insC p.V776Rfs*119 frameshift 0.00004137●●●●●●
104. 40945748 c.2295+1G>A essential splice site 0.00004135●●●●●●
105. 40939356 c.1537C>T p.R513W missense 0.00004123●●●●●●
106. 40947987 c.3367G>A p.E1123K missense 0.00004122●●●●●●
107. 40948044 c.3424C>T p.R1142W missense 0.00004122●●●●●●
108. 40939381 c.1562G>A p.R521H missense 0.00004120●●●●●●
109. 40946982 c.2543C>T p.S848F missense 0.00004119●●●●●●
110. 40945658 c.2206C>T p.R736W missense 0.00004119●●●●●●
111. 40939491 c.1672C>T p.P558S missense 0.00004119●●●●●●
112. 40947095 c.2656A>G p.T886A missense 0.00004118●●●●●●
113. 40948323 c.3614C>G p.S1205C missense 0.00004050●●●●●●
114. 40937437 c.1413C>G p.N471K missense 0.00004030●●●●●●
115. 40937366 c.1342G>A p.G448S missense 0.00003879●●●●●●
116. 40937363 c.1339G>A p.D447N missense 0.00003799●●●●●●
117. 40933092 c.376G>A p.E126K missense 0.00003685●●●●●●
118. 40937352 c.1328C>T p.A443V missense 0.00003612●●●●●●
119. 40937333 c.1309G>T p.G437C missense 0.00003395●●●●●●
120. 40934780 c.623G>A p.R208Q missense 0.00003315●●●●●●
121. 40946662 c.2326G>A p.V776I missense 0.00003308●●●●●●
122. 40947871 c.3251T>G p.V1084G missense 0.00003303●●●●●●
123. 40946691 c.2350+5G>A splice site 0.00003303●●●●●●
124. 40939351 c.1532G>A p.R511H missense 0.00003299●●●●●●
125. 40936100 c.937C>G p.P313A missense 0.00003298●●●●●●
126. 40948579 c.3712G>A p.G1238R missense 0.00003298●●●●●●
127. 40945614 c.2162A>G p.Y721C missense 0.00003298●●●●●●
128. 40947273 c.2834C>T p.S945L missense 0.00003296●●●●●●
129. 40948003 c.3383G>A p.S1128N missense 0.00003296●●●●●●
130. 40940339 c.1954G>A p.D652N missense 0.00003296●●●●●●
131. 40936041 c.878C>G p.S293C missense 0.00003296●●●●●●
132. 40948604 c.3729+8C>T splice site 0.00003296●●●●●●
133. 40947162 c.2723C>T p.P908L missense 0.00003295●●●●●●
134. 40947050 c.2611G>A p.E871K missense 0.00003295●●●●●●
135. 40948340 c.3631G>C p.G1211R missense 0.00003089●●●●●●
136. 40937378 c.1354G>C p.G452R missense 0.00002857●●●●●●
137. 40937416 c.1392_1393insG p.Arg467AlafsTer34 frameshift 0.00002820●●●●●●
138. 40932798 c.82C>G p.L28V missense 0.00002799●●●●●●
139. 40933099 c.383C>T p.P128L missense 0.00002748●●●●●●
140. 40932783 c.67C>T p.R23W missense 0.00002740●●●●●●
141. 40932909 c.193G>A p.V65I missense 0.00002737●●●●●●
142. 40937184 c.1240C>A p.R414S missense 0.00002680●●●●●●
143. 40937369 c.1345G>C p.E449Q missense 0.00002673●●●●●●
144. 40932727 c.11C>T p.S4F missense 0.00002664●●●●●●
145. 40939917 c.1863G>A splice site 0.00002578●●●●●●
146. 40939847 c.1793C>T p.S598L missense 0.00002564●●●●●●
147. 40939797 c.1743G>A splice site 0.00002557●●●●●●
148. 40940415 c.2030G>A p.R677Q missense 0.00002538●●●●●●
149. 40936522 c.1095G>T p.M365I missense 0.00002516●●●●●●
150. 40940402 c.2017C>T p.R673X nonsense 0.00002506●●●●●●
151. 40934920 c.763G>A p.E255K missense 0.00002494●●●●●●
152. 40946633 c.2297A>G p.E766G missense 0.00002491●●●●●●
153. 40940394 c.2009G>A p.R670H missense 0.00002491●●●●●●
154. 40940393 c.2008C>T p.R670C missense 0.00002491●●●●●●
155. 40934905 c.748A>T p.I250F missense 0.00002483●●●●●●
156. 40933216 c.500C>A p.T167K missense 0.00002483●●●●●●
157. 40948508 c.3641G>A p.R1214Q missense 0.00002481●●●●●●
158. 40947901 c.3281C>G p.P1094R missense 0.00002479●●●●●●
159. 40947873 c.3253_3255delGAG p.Glu1085del inframe 0.00002477●●●●●●
160. 40934873 c.716C>T p.S239L missense 0.00002476●●●●●●
161. 40945604 c.2158-6C>T splice site 0.00002476●●●●●●
162. 40940376 c.1991C>T p.P664L missense 0.00002476●●●●●●
163. 40934849 c.692C>T p.P231L missense 0.00002475●●●●●●
164. 40948577 c.3710delC p.Asp1239MetfsTer29 frameshift 0.00002474●●●●●●
165. 40945725 c.2273C>A p.A758D missense 0.00002473●●●●●●
166. 40939375 c.1556G>A p.R519Q missense 0.00002473●●●●●●
167. 40939392 c.1573C>T p.R525C missense 0.00002472●●●●●●
168. 40939404 c.1585G>A p.E529K missense 0.00002472●●●●●●
169. 40940351 c.1966G>A p.G656R missense 0.00002472●●●●●●
170. 40939474 c.1655G>C p.S552T missense 0.00002472●●●●●●
171. 40946907 c.2468T>C p.I823T missense 0.00002471●●●●●●
172. 40947525 c.3008C>T p.A1003V missense 0.00002471●●●●●●
173. 40939461 c.1642C>G p.P548A missense 0.00002471●●●●●●
174. 40937411 c.1387C>T p.R463W missense 0.00002354●●●●●●
175. 40948305 c.3596G>A p.R1199H missense 0.00002032●●●●●●
176. 40948320 c.3611G>A p.R1204H missense 0.00002027●●●●●●
177. 40948263 c.3554G>A p.R1185H missense 0.00001970●●●●●●
178. 40932841 c.125G>T p.R42L missense 0.00001968●●●●●●
179. 40933090 c.374C>G p.P125R missense 0.00001846●●●●●●
180. 40937207 c.1259+4G>A splice site 0.00001846●●●●●●
181. 40937204 c.1259+1G>T essential splice site 0.00001829●●●●●●
182. 40932780 c.64C>G p.L22V missense 0.00001819●●●●●●
183. 40932996 c.280C>T p.P94S missense 0.00001816●●●●●●
184. 40933105 c.389C>T p.S130F missense 0.00001814●●●●●●
185. 40932937 c.221C>T p.S74F missense 0.00001802●●●●●●
186. 40932976 c.260C>T p.P87L missense 0.00001800●●●●●●
187. 40937192 c.1248T>A p.D416E missense 0.00001800●●●●●●
188. 40932967 c.251C>T p.P84L missense 0.00001796●●●●●●
189. 40932946 c.230C>T p.A77V missense 0.00001796●●●●●●
190. 40937176 c.1232G>C p.G411A missense 0.00001778●●●●●●
191. 40936467 c.1040T>A p.M347K missense 0.00001738●●●●●●
192. 40935981 c.818A>G p.K273R missense 0.00001737●●●●●●
193. 40937397 c.1373G>A p.R458H missense 0.00001736●●●●●●
194. 40934949 c.791+1G>A essential splice site 0.00001731●●●●●●
195. 40939871 c.1817G>T p.G606V missense 0.00001713●●●●●●
196. 40939863 c.1809G>C p.Q603H missense 0.00001712●●●●●●
197. 40939849 c.1795G>C p.D599H missense 0.00001710●●●●●●
198. 40939831 c.1777G>A p.G593S missense 0.00001708●●●●●●
199. 40939804 c.1750G>A p.E584K missense 0.00001706●●●●●●
200. 40940403 c.2018G>A p.R673Q missense 0.00001674●●●●●●
201. 40948206 c.3497G>A p.R1166Q missense 0.00001671●●●●●●
202. 40936535 c.1108A>C p.T370P missense 0.00001670●●●●●●
203. 40933171 c.455G>A p.R152Q missense 0.00001670●●●●●●
204. 40948199 c.3490T>C p.Y1164H missense 0.00001667●●●●●●
205. 40934766 c.619-10C>G splice site 0.00001665●●●●●●
206. 40936583 c.1156C>T p.R386C missense 0.00001663●●●●●●
207. 40936003 c.840G>A p.Trp280Ter nonsense 0.00001663●●●●●●
208. 40948189 c.3480T>G p.I1160M missense 0.00001661●●●●●●
209. 40936568 c.1141G>A p.A381T missense 0.00001661●●●●●●
210. 40933194 c.478A>G p.M160V missense 0.00001659●●●●●●
211. 40948170 c.3461C>T p.T1154I missense 0.00001657●●●●●●
212. 40948499 c.3632G>C p.G1211A missense 0.00001656●●●●●●
213. 40948501 c.3634A>G p.I1212V missense 0.00001656●●●●●●
214. 40939311 c.1492G>C p.V498L missense 0.00001655●●●●●●
215. 40933215 c.499A>G p.T167A missense 0.00001655●●●●●●
216. 40946657 c.2321T>C p.L774P missense 0.00001655●●●●●●
217. 40947917 c.3297delC p.Gln1101AsnfsTer3 frameshift 0.00001654●●●●●●
218. 40948138 c.3432-3C>G splice site 0.00001654●●●●●●
219. 40946662 c.2326G>T p.V776F missense 0.00001654●●●●●●
220. 40934800 c.643C>T p.R215W missense 0.00001653●●●●●●
221. 40946674 c.2338G>T p.D780Y missense 0.00001653●●●●●●
222. 40948519 c.3652_3653insTT p.Ser1219Ter frameshift 0.00001653●●●●●●
223. 40933246 c.530_531delAC p.Ile178ArgfsTer26 frameshift 0.00001653●●●●●●
224. 40934807 c.650G>A p.R217H missense 0.00001652●●●●●●
225. 40947876 c.3256G>C p.E1086Q missense 0.00001651●●●●●●
226. 40934882 c.725C>T p.S242L missense 0.00001651●●●●●●
227. 40947666 c.3046C>T p.R1016C missense 0.00001650●●●●●●
228. 40934860 c.703C>T p.R235C missense 0.00001650●●●●●●
229. 40939348 c.1529T>C p.V510A missense 0.00001650●●●●●●
230. 40934827 c.670A>G p.M224V missense 0.00001650●●●●●●
231. 40946792 c.2353G>A p.E785K missense 0.00001649●●●●●●
232. 40947646 c.3026G>A p.G1009E missense 0.00001649●●●●●●
233. 40939362 c.1543G>A p.A515T missense 0.00001649●●●●●●
234. 40940365 c.1980_1982delGAG p.Arg662del inframe 0.00001649●●●●●●
235. 40946955 c.2516G>T p.S839I missense 0.00001649●●●●●●
236. 40946823 c.2384G>C p.R795T missense 0.00001648●●●●●●
237. 40939487 c.1668delT p.Glu557SerfsTer104 frameshift 0.00001648●●●●●●
238. 40939482 c.1663C>A p.P555T missense 0.00001648●●●●●●
239. 40939402 c.1583G>A p.R528K missense 0.00001648●●●●●●
240. 40947330 c.2891C>T p.P964L missense 0.00001648●●●●●●
241. 40945640 c.2188C>T p.R730X nonsense 0.00001648●●●●●●
242. 40946970 c.2531_2533delCCC p.Pro845del inframe 0.00001648●●●●●●
243. 40940819 c.2157+4delA splice site 0.00001648●●●●●●
244. 40947294 c.2855_2857delCTC p.S952_P953delinsS inframe 0.00001648●●●●●●
245. 40939483 c.1664C>A p.P555H missense 0.00001648●●●●●●
246. 40945671 c.2219T>C p.I740T missense 0.00001648●●●●●●
247. 40946966 c.2527T>C p.F843L missense 0.00001648●●●●●●
248. 40945637 c.2185G>C p.E729Q missense 0.00001648●●●●●●
249. 40939533 c.1714C>T p.R572C missense 0.00001648●●●●●●
250. 40947047 c.2608C>T p.P870S missense 0.00001647●●●●●●
251. 40947403 c.2961+3G>A splice site 0.00001647●●●●●●
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506. 40940328 c.1943C>G p.S648X nonsense 0.00000824●●●●●●
507. 40946950 c.2511T>G p.H837Q missense 0.00000824●●●●●●
508. 40940163 c.1879A>G p.I627V missense 0.00000824●●●●●●
509. 40946808 c.2369C>T p.T790I missense 0.00000824●●●●●●
510. 40946790 c.2351A>G p.E784G missense 0.00000824●●●●●●
511. 40939549 c.1730C>T p.S577L missense 0.00000824●●●●●●
512. 40947366 c.2927G>A p.S976N missense 0.00000824●●●●●●
513. 40945725 c.2273C>G p.A758G missense 0.00000824●●●●●●
514. 40947191 c.2752A>G p.T918A missense 0.00000824●●●●●●
515. 40947339 c.2900C>T p.P967L missense 0.00000824●●●●●●
516. 40939455 c.1636A>C p.M546L missense 0.00000824●●●●●●
517. 40947185 c.2746C>A p.P916T missense 0.00000824●●●●●●
518. 40936078 c.915C>A p.C305X nonsense 0.00000824●●●●●●
519. 40936055 c.892A>G p.I298V missense 0.00000824●●●●●●
520. 40947219 c.2780C>T p.A927V missense 0.00000824●●●●●●
521. 40940820 c.2157+5G>A splice site 0.00000824●●●●●●
522. 40947102 c.2663C>A p.S888Y missense 0.00000824●●●●●●
523. 40940738 c.2080C>T p.Q694X nonsense 0.00000824●●●●●●
524. 40947039 c.2600C>G p.S867C missense 0.00000824●●●●●●
525. 40947177 c.2738C>T p.S913F missense 0.00000824●●●●●●
526. 40947392 c.2953G>A p.E985K missense 0.00000824●●●●●●
527. 40947296 c.2857C>T p.P953S missense 0.00000824●●●●●●
528. 40940813 c.2155A>G p.M719V missense 0.00000824●●●●●●
529. 40936038 c.875A>G p.H292R missense 0.00000824●●●●●●
530. 40947158 c.2719C>T p.P907S missense 0.00000824●●●●●●
531. 40946783 c.2351-7T>C splice site 0.00000824●●●●●●
532. 40940170 c.1886G>A p.R629H missense 0.00000824●●●●●●
533. 40946970 c.2531C>T p.S844F 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.