KCNA5 variants in ExAC

KCNA5 gene summary
KCNA5 variants in

The table below lists the KCNA5 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. 5154064 c.751G>A p.A251T missense 0.01310018●●●●●●
2. 5153405 c.92G>T p.G31V missense 0.00722259●●●●●●
3. 5155046 c.1733G>A p.R578K missense 0.00540117●●●●●●
4. 5154242 c.929C>T p.P310L missense 0.00371404●●●●●●
5. 5153542 c.229C>T p.P77S missense 0.00248139●●●●●●
6. 5154232 c.919C>T p.P307S missense 0.00194336●●●●●●
7. 5154463 c.1150G>A p.G384R missense 0.00150928●●●●●●
8. 5153946 c.633G>C p.E211D missense 0.00083298●●●●●●
9. 5153573 c.260G>A p.R87Q missense 0.00058559●●●●●●
10. 5153564 c.251A>C p.E84A missense 0.00051241●●●●●●
11. 5154908 c.1595C>T p.P532L missense 0.00037143●●●●●●
12. 5155016 c.1703G>T p.G568V missense 0.00029077●●●●●●
13. 5153947 c.634C>T p.R212C missense 0.00027216●●●●●●
14. 5154893 c.1580C>T p.T527M missense 0.00023914●●●●●●
15. 5154173 c.860C>T p.A287V missense 0.00022594●●●●●●
16. 5154172 c.859G>T p.A287S missense 0.00022586●●●●●●
17. 5153810 c.497A>C p.D166A missense 0.00022406●●●●●●
18. 5155103 c.1790G>A p.R597Q missense 0.00020150●●●●●●
19. 5154211 c.898G>A p.G300S missense 0.00018712●●●●●●
20. 5153392 c.79G>A p.G27S missense 0.00016703●●●●●●
21. 5154985 c.1672G>A p.G558R missense 0.00016603●●●●●●
22. 5153411 c.98A>T p.E33V missense 0.00016316●●●●●●
23. 5153527 c.214G>C p.D72H missense 0.00015715●●●●●●
24. 5153456 c.143A>G p.E48G missense 0.00014393●●●●●●
25. 5153457 c.144G>C p.E48D missense 0.00014382●●●●●●
26. 5153534 c.221G>A p.G74E missense 0.00014283●●●●●●
27. 5153857 c.544G>A p.G182R missense 0.00014136●●●●●●
28. 5154110 c.797C>T p.T266I missense 0.00013206●●●●●●
29. 5154274 c.961G>A p.A321T missense 0.00010826●●●●●●
30. 5154277 c.964G>C p.D322H missense 0.00009152●●●●●●
31. 5154142 c.829G>A p.D277N missense 0.00009101●●●●●●
32. 5153348 c.35G>A p.G12D missense 0.00008584●●●●●●
33. 5153363 c.50G>A p.R17K missense 0.00008477●●●●●●
34. 5153380 c.67C>T p.R23W missense 0.00008413●●●●●●
35. 5153393 c.80G>A p.G27D missense 0.00008354●●●●●●
36. 5153405 c.92G>C p.G31A missense 0.00008207●●●●●●
37. 5153435 c.122G>A p.G41E missense 0.00007793●●●●●●
38. 5154973 c.1660C>T p.R554W missense 0.00007468●●●●●●
39. 5153461 c.148G>C p.A50P missense 0.00007043●●●●●●
40. 5153777 c.464A>G p.Y155C missense 0.00006668●●●●●●
41. 5154148 c.835C>T p.R279C missense 0.00006626●●●●●●
42. 5154311 c.998T>C p.I333T missense 0.00006620●●●●●●
43. 5153479 c.166G>A p.A56T missense 0.00006597●●●●●●
44. 5154886 c.1573C>T p.R525W missense 0.00006595●●●●●●
45. 5153501 c.188G>T p.G63V missense 0.00006329●●●●●●
46. 5153509 c.196C>T p.P66S missense 0.00006186●●●●●●
47. 5153507 c.194G>C p.R65P missense 0.00006146●●●●●●
48. 5153519 c.206C>T p.P69L missense 0.00005912●●●●●●
49. 5154640 c.1327A>G p.I443V missense 0.00005777●●●●●●
50. 5153525 c.212C>T p.P71L missense 0.00005518●●●●●●
51. 5153525 c.212C>G p.P71R missense 0.00005518●●●●●●
52. 5154230 c.917C>A p.P306Q missense 0.00005077●●●●●●
53. 5154239 c.926G>A p.G309D missense 0.00005050●●●●●●
54. 5153773 c.460C>A p.R154S missense 0.00005008●●●●●●
55. 5154785 c.1472T>C p.V491A missense 0.00004942●●●●●●
56. 5153533 c.220G>A p.G74R missense 0.00004825●●●●●●
57. 5153588 c.275C>G p.P92R missense 0.00004556●●●●●●
58. 5154217 c.904G>C p.G302R missense 0.00004245●●●●●●
59. 5154974 c.1661G>A p.R554Q missense 0.00004148●●●●●●
60. 5154088 c.775G>A p.V259I missense 0.00004123●●●●●●
61. 5154383 c.1070T>C p.M357T missense 0.00004122●●●●●●
62. 5153980 c.667G>A p.E223K missense 0.00004122●●●●●●
63. 5154014 c.701G>T p.R234L missense 0.00004121●●●●●●
64. 5154406 c.1093A>G p.I365V missense 0.00004121●●●●●●
65. 5154806 c.1493C>T p.S498L missense 0.00004119●●●●●●
66. 5153581 c.268C>T p.R90W missense 0.00003719●●●●●●
67. 5154521 c.1208G>T p.R403L missense 0.00003342●●●●●●
68. 5155063 c.1750G>C p.E584Q missense 0.00003338●●●●●●
69. 5155042 c.1729C>T p.R577X nonsense 0.00003335●●●●●●
70. 5155040 c.1727C>T p.A576V missense 0.00003334●●●●●●
71. 5155043 c.1730G>A p.R577Q missense 0.00003334●●●●●●
72. 5154910 c.1597G>T p.A533S missense 0.00003302●●●●●●
73. 5153557 c.244C>A p.P82T missense 0.00003088●●●●●●
74. 5153741 c.428A>G p.N143S missense 0.00002517●●●●●●
75. 5153767 c.454C>G p.R152G missense 0.00002507●●●●●●
76. 5154983 c.1670G>C p.S557T missense 0.00002489●●●●●●
77. 5154922 c.1609G>A p.E537K missense 0.00002478●●●●●●
78. 5153929 c.616G>A p.G206R missense 0.00002475●●●●●●
79. 5154041 c.728C>T p.P243L missense 0.00002473●●●●●●
80. 5153614 c.301G>A p.D101N missense 0.00002006●●●●●●
81. 5154211 c.898G>C p.G300R missense 0.00001701●●●●●●
82. 5154245 c.932C>T p.T311M missense 0.00001679●●●●●●
83. 5153755 c.442G>A p.D148N missense 0.00001675●●●●●●
84. 5153761 c.448G>C p.A150P missense 0.00001673●●●●●●
85. 5154257 c.944T>C p.L315P missense 0.00001671●●●●●●
86. 5155048 c.1735G>A p.G579S missense 0.00001667●●●●●●
87. 5153850 c.537C>G p.Y179X nonsense 0.00001665●●●●●●
88. 5153848 c.535T>C p.Y179H missense 0.00001664●●●●●●
89. 5154277 c.964G>A p.D322N missense 0.00001664●●●●●●
90. 5155030 c.1717G>A p.A573T missense 0.00001664●●●●●●
91. 5154280 c.967C>A p.P323T missense 0.00001662●●●●●●
92. 5153864 c.551G>A p.R184H missense 0.00001662●●●●●●
93. 5154280 c.967C>T p.P323S missense 0.00001662●●●●●●
94. 5153895 c.582C>A p.D194E missense 0.00001653●●●●●●
95. 5154334 c.1021G>C p.V341L missense 0.00001652●●●●●●
96. 5154125 c.812C>A p.T271N missense 0.00001652●●●●●●
97. 5154334 c.1021G>A p.V341M missense 0.00001652●●●●●●
98. 5153915 c.602G>T p.R201L missense 0.00001651●●●●●●
99. 5153910 c.597G>C p.E199D missense 0.00001651●●●●●●
100. 5154472 c.1159G>A p.G387S missense 0.00001650●●●●●●
101. 5153930 c.617G>C p.G206A missense 0.00001650●●●●●●
102. 5153959 c.646G>C p.D216H missense 0.00001649●●●●●●
103. 5154018 c.705G>T p.Q235H missense 0.00001649●●●●●●
104. 5154032 c.719T>G p.F240C missense 0.00001649●●●●●●
105. 5154373 c.1060C>T p.R354W missense 0.00001649●●●●●●
106. 5154461 c.1148G>A p.G383D missense 0.00001648●●●●●●
107. 5154820 c.1507G>A p.A503T missense 0.00001648●●●●●●
108. 5154713 c.1400T>C p.I467T missense 0.00001647●●●●●●
109. 5153605 c.292G>A p.E98K missense 0.00001099●●●●●●
110. 5153623 c.310C>G p.L104V missense 0.00000934●●●●●●
111. 5153627 c.314G>T p.G105V missense 0.00000920●●●●●●
112. 5153630 c.317C>A p.T106K missense 0.00000911●●●●●●
113. 5155151 c.1838T>A p.L613X nonsense 0.00000856●●●●●●
114. 5155142 c.1829A>G p.E610G missense 0.00000855●●●●●●
115. 5155145 c.1832C>A p.T611K missense 0.00000855●●●●●●
116. 5153685 c.372C>G p.I124M missense 0.00000855●●●●●●
117. 5155141 c.1828G>A p.E610K missense 0.00000854●●●●●●
118. 5155130 c.1817A>G p.D606G missense 0.00000851●●●●●●
119. 5153695 c.382G>T p.G128W missense 0.00000851●●●●●●
120. 5154210 c.897C>G p.N299K missense 0.00000850●●●●●●
121. 5154203 c.890G>A p.G297E missense 0.00000849●●●●●●
122. 5154217 c.904G>A p.G302R missense 0.00000849●●●●●●
123. 5154224 c.911T>C p.M304T missense 0.00000848●●●●●●
124. 5153702 c.389G>T p.R130L missense 0.00000848●●●●●●
125. 5154226 c.913G>A p.A305T missense 0.00000847●●●●●●
126. 5153711 c.398C>A p.T133K missense 0.00000846●●●●●●
127. 5153719 c.406G>A p.G136S missense 0.00000844●●●●●●
128. 5154181 c.868C>A p.Q290K missense 0.00000843●●●●●●
129. 5153732 c.419A>G p.Q140R missense 0.00000841●●●●●●
130. 5153733 c.420G>C p.Q140H missense 0.00000840●●●●●●
131. 5153746 c.433C>A p.L145I missense 0.00000839●●●●●●
132. 5155102 c.1789C>T p.R597W missense 0.00000839●●●●●●
133. 5153755 c.442G>C p.D148H missense 0.00000838●●●●●●
134. 5155093 c.1780G>T p.V594L missense 0.00000837●●●●●●
135. 5155093 c.1780G>A p.V594M missense 0.00000837●●●●●●
136. 5155092 c.1779C>A p.N593K missense 0.00000837●●●●●●
137. 5154170 c.857C>T p.P286L missense 0.00000836●●●●●●
138. 5153767 c.454C>T p.R152C missense 0.00000836●●●●●●
139. 5153767 c.454C>A p.R152S missense 0.00000836●●●●●●
140. 5155088 c.1775G>A p.S592N missense 0.00000836●●●●●●
141. 5153771 c.458T>A p.L153Q missense 0.00000835●●●●●●
142. 5155075 c.1762G>C p.V588L missense 0.00000835●●●●●●
143. 5153768 c.455G>A p.R152H missense 0.00000835●●●●●●
144. 5155049 c.1736G>A p.G579D missense 0.00000834●●●●●●
145. 5155049 c.1736G>T p.G579V missense 0.00000834●●●●●●
146. 5155057 c.1744C>A p.P582T missense 0.00000834●●●●●●
147. 5154517 c.1204A>T p.I402F missense 0.00000833●●●●●●
148. 5155034 c.1721A>T p.D574V missense 0.00000833●●●●●●
149. 5154275 c.962C>T p.A321V missense 0.00000833●●●●●●
150. 5154163 c.850C>T p.H284Y missense 0.00000833●●●●●●
151. 5153856 c.543_544insG p.Arg184ProfsTer34 frameshift 0.00000832●●●●●●
152. 5154277 c.964G>T p.D322Y missense 0.00000832●●●●●●
153. 5153834 c.521G>C p.G174A missense 0.00000832●●●●●●
154. 5153854 c.541T>G p.S181A missense 0.00000832●●●●●●
155. 5153784 c.471C>A p.D157E missense 0.00000832●●●●●●
156. 5155016 c.1703G>C p.G568A missense 0.00000831●●●●●●
157. 5153860 c.547G>T p.G183C missense 0.00000831●●●●●●
158. 5155010 c.1697_1698delCT p.Ala566GlyfsTer21 frameshift 0.00000831●●●●●●
159. 5155021 c.1708C>G p.L570V missense 0.00000831●●●●●●
160. 5154511 c.1198C>T p.R400X nonsense 0.00000831●●●●●●
161. 5154279 c.966C>G p.D322E missense 0.00000831●●●●●●
162. 5153863 c.550C>T p.R184C missense 0.00000831●●●●●●
163. 5155012 c.1699G>C p.G567R missense 0.00000831●●●●●●
164. 5153809 c.496G>T p.D166Y missense 0.00000830●●●●●●
165. 5154983 c.1670G>A p.S557N missense 0.00000830●●●●●●
166. 5153819 c.506G>C p.R169P missense 0.00000830●●●●●●
167. 5154290 c.977T>G p.I326S missense 0.00000830●●●●●●
168. 5154984 c.1671C>A p.S557R missense 0.00000830●●●●●●
169. 5153825 c.512G>A p.S171N missense 0.00000830●●●●●●
170. 5153813 c.500G>A p.R167H missense 0.00000830●●●●●●
171. 5154997 c.1684T>A p.S562T missense 0.00000830●●●●●●
172. 5153816 c.503A>G p.N168S missense 0.00000830●●●●●●
173. 5154949 c.1636C>T p.P546S missense 0.00000829●●●●●●
174. 5154302 c.989C>T p.T330M missense 0.00000829●●●●●●
175. 5154302 c.989C>A p.T330K missense 0.00000829●●●●●●
176. 5154956 c.1643T>C p.L548P missense 0.00000829●●●●●●
177. 5153882 c.569A>C p.N190T missense 0.00000828●●●●●●
178. 5154310 c.997A>T p.I333F missense 0.00000828●●●●●●
179. 5154941 c.1628G>A p.S543N missense 0.00000828●●●●●●
180. 5154149 c.836G>A p.R279H missense 0.00000828●●●●●●
181. 5154947 c.1634G>A p.G545E missense 0.00000828●●●●●●
182. 5154503 c.1190C>T p.A397V missense 0.00000828●●●●●●
183. 5153882 c.569A>G p.N190S missense 0.00000828●●●●●●
184. 5154935 c.1622C>T p.T541I missense 0.00000827●●●●●●
185. 5154322 c.1009T>C p.F337L missense 0.00000827●●●●●●
186. 5154932 c.1619G>T p.G540V missense 0.00000827●●●●●●
187. 5154626 c.1313_1315delTCT p.Phe440del inframe 0.00000827●●●●●●
188. 5154497 c.1184C>T p.S395F missense 0.00000827●●●●●●
189. 5154140 c.827G>A p.R276K missense 0.00000827●●●●●●
190. 5153888 c.575C>A p.S192Y missense 0.00000827●●●●●●
191. 5154625 c.1312A>G p.I438V missense 0.00000827●●●●●●
192. 5154317 c.1004T>C p.F335S missense 0.00000827●●●●●●
193. 5153896 c.583G>T p.V195L missense 0.00000826●●●●●●
194. 5154914 c.1601T>C p.V534A missense 0.00000826●●●●●●
195. 5153896 c.583G>A p.V195M missense 0.00000826●●●●●●
196. 5154331 c.1018C>T p.L340F missense 0.00000826●●●●●●
197. 5154334 c.1021G>T p.V341L missense 0.00000826●●●●●●
198. 5154642 c.1329C>G p.I443M missense 0.00000825●●●●●●
199. 5153947 c.634C>A p.R212S missense 0.00000825●●●●●●
200. 5153911 c.598A>T p.I200L missense 0.00000825●●●●●●
201. 5154091 c.778A>T p.I260F missense 0.00000825●●●●●●
202. 5153953 c.640C>T p.R214C missense 0.00000825●●●●●●
203. 5154356 c.1043G>A p.S348N missense 0.00000825●●●●●●
204. 5153932 c.619G>A p.D207N missense 0.00000825●●●●●●
205. 5154113 c.800T>C p.F267S missense 0.00000825●●●●●●
206. 5153966 c.653G>T p.G218V missense 0.00000825●●●●●●
207. 5153980 c.667_669delGAG p.Glu223del inframe 0.00000825●●●●●●
208. 5153914 c.601C>T p.R201C missense 0.00000825●●●●●●
209. 5153935 c.622G>T p.E208X nonsense 0.00000825●●●●●●
210. 5153951 c.638T>C p.F213S missense 0.00000825●●●●●●
211. 5154365 c.1052G>C p.G351A missense 0.00000825●●●●●●
212. 5153934 c.621C>G p.D207E missense 0.00000825●●●●●●
213. 5153939 c.626C>T p.A209V missense 0.00000825●●●●●●
214. 5153952 c.639C>G p.F213L missense 0.00000825●●●●●●
215. 5154469 c.1156G>A p.G386S missense 0.00000825●●●●●●
216. 5154351 c.1038C>A p.C346X nonsense 0.00000825●●●●●●
217. 5154859 c.1546G>A p.V516I missense 0.00000824●●●●●●
218. 5154445 c.1132G>A p.E378K missense 0.00000824●●●●●●
219. 5154707 c.1394C>G p.S465C missense 0.00000824●●●●●●
220. 5154799 c.1486G>A p.V496M missense 0.00000824●●●●●●
221. 5154003 c.690C>G p.N230K missense 0.00000824●●●●●●
222. 5154701 c.1388A>T p.H463L missense 0.00000824●●●●●●
223. 5154662 c.1349G>A p.S450N missense 0.00000824●●●●●●
224. 5154046 c.733A>G p.S245G missense 0.00000824●●●●●●
225. 5154454 c.1141C>A p.P381T missense 0.00000824●●●●●●
226. 5154832 c.1519A>T p.T507S missense 0.00000824●●●●●●
227. 5154006 c.693G>T p.E231D missense 0.00000824●●●●●●
228. 5154019 c.706G>A p.V236M missense 0.00000824●●●●●●
229. 5154397 c.1084G>A p.V362M missense 0.00000824●●●●●●
230. 5154662 c.1349G>C p.S450T missense 0.00000824●●●●●●
231. 5154076 c.763G>A p.V255I missense 0.00000824●●●●●●
232. 5154057 c.744_745delCG p.Arg250GlyfsTer24 frameshift 0.00000824●●●●●●
233. 5153995 c.682C>A p.P228T missense 0.00000824●●●●●●
234. 5154835 c.1522A>G p.I508V missense 0.00000824●●●●●●
235. 5154013 c.700C>T p.R234C missense 0.00000824●●●●●●
236. 5154683 c.1370C>T p.A457V missense 0.00000824●●●●●●
237. 5154739 c.1426G>T p.V476F missense 0.00000824●●●●●●
238. 5154676 c.1363G>A p.A455T missense 0.00000824●●●●●●
239. 5154456 c.1143delA p.Gly383ValfsTer49 frameshift 0.00000824●●●●●●
240. 5153999 c.686G>A p.R229H 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.