KCNA5 missense variants in ExAC

KCNA5 gene summary
KCNA5 variants in

The table below lists the KCNA5 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. 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>G p.P71R missense 0.00005518●●●●●●
51. 5153525 c.212C>T p.P71L 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. 5155040 c.1727C>T p.A576V missense 0.00003334●●●●●●
70. 5155043 c.1730G>A p.R577Q missense 0.00003334●●●●●●
71. 5154910 c.1597G>T p.A533S missense 0.00003302●●●●●●
72. 5153557 c.244C>A p.P82T missense 0.00003088●●●●●●
73. 5153741 c.428A>G p.N143S missense 0.00002517●●●●●●
74. 5153767 c.454C>G p.R152G missense 0.00002507●●●●●●
75. 5154983 c.1670G>C p.S557T missense 0.00002489●●●●●●
76. 5154922 c.1609G>A p.E537K missense 0.00002478●●●●●●
77. 5153929 c.616G>A p.G206R missense 0.00002475●●●●●●
78. 5154041 c.728C>T p.P243L missense 0.00002473●●●●●●
79. 5153614 c.301G>A p.D101N missense 0.00002006●●●●●●
80. 5154211 c.898G>C p.G300R missense 0.00001701●●●●●●
81. 5154245 c.932C>T p.T311M missense 0.00001679●●●●●●
82. 5153755 c.442G>A p.D148N missense 0.00001675●●●●●●
83. 5153761 c.448G>C p.A150P missense 0.00001673●●●●●●
84. 5154257 c.944T>C p.L315P missense 0.00001671●●●●●●
85. 5155048 c.1735G>A p.G579S missense 0.00001667●●●●●●
86. 5155030 c.1717G>A p.A573T missense 0.00001664●●●●●●
87. 5153848 c.535T>C p.Y179H missense 0.00001664●●●●●●
88. 5154277 c.964G>A p.D322N missense 0.00001664●●●●●●
89. 5154280 c.967C>A p.P323T missense 0.00001662●●●●●●
90. 5153864 c.551G>A p.R184H missense 0.00001662●●●●●●
91. 5154280 c.967C>T p.P323S missense 0.00001662●●●●●●
92. 5153895 c.582C>A p.D194E missense 0.00001653●●●●●●
93. 5154334 c.1021G>C p.V341L missense 0.00001652●●●●●●
94. 5154125 c.812C>A p.T271N missense 0.00001652●●●●●●
95. 5154334 c.1021G>A p.V341M missense 0.00001652●●●●●●
96. 5153910 c.597G>C p.E199D missense 0.00001651●●●●●●
97. 5153915 c.602G>T p.R201L missense 0.00001651●●●●●●
98. 5154472 c.1159G>A p.G387S missense 0.00001650●●●●●●
99. 5153930 c.617G>C p.G206A missense 0.00001650●●●●●●
100. 5154018 c.705G>T p.Q235H missense 0.00001649●●●●●●
101. 5153959 c.646G>C p.D216H missense 0.00001649●●●●●●
102. 5154373 c.1060C>T p.R354W missense 0.00001649●●●●●●
103. 5154032 c.719T>G p.F240C missense 0.00001649●●●●●●
104. 5154461 c.1148G>A p.G383D missense 0.00001648●●●●●●
105. 5154820 c.1507G>A p.A503T missense 0.00001648●●●●●●
106. 5154713 c.1400T>C p.I467T missense 0.00001647●●●●●●
107. 5153605 c.292G>A p.E98K missense 0.00001099●●●●●●
108. 5153623 c.310C>G p.L104V missense 0.00000934●●●●●●
109. 5153627 c.314G>T p.G105V missense 0.00000920●●●●●●
110. 5153630 c.317C>A p.T106K missense 0.00000911●●●●●●
111. 5155142 c.1829A>G p.E610G missense 0.00000855●●●●●●
112. 5155145 c.1832C>A p.T611K missense 0.00000855●●●●●●
113. 5153685 c.372C>G p.I124M missense 0.00000855●●●●●●
114. 5155141 c.1828G>A p.E610K missense 0.00000854●●●●●●
115. 5155130 c.1817A>G p.D606G missense 0.00000851●●●●●●
116. 5153695 c.382G>T p.G128W missense 0.00000851●●●●●●
117. 5154210 c.897C>G p.N299K missense 0.00000850●●●●●●
118. 5154217 c.904G>A p.G302R missense 0.00000849●●●●●●
119. 5154203 c.890G>A p.G297E missense 0.00000849●●●●●●
120. 5153702 c.389G>T p.R130L missense 0.00000848●●●●●●
121. 5154224 c.911T>C p.M304T missense 0.00000848●●●●●●
122. 5154226 c.913G>A p.A305T missense 0.00000847●●●●●●
123. 5153711 c.398C>A p.T133K missense 0.00000846●●●●●●
124. 5153719 c.406G>A p.G136S missense 0.00000844●●●●●●
125. 5154181 c.868C>A p.Q290K missense 0.00000843●●●●●●
126. 5153732 c.419A>G p.Q140R missense 0.00000841●●●●●●
127. 5153733 c.420G>C p.Q140H missense 0.00000840●●●●●●
128. 5155102 c.1789C>T p.R597W missense 0.00000839●●●●●●
129. 5153746 c.433C>A p.L145I missense 0.00000839●●●●●●
130. 5153755 c.442G>C p.D148H missense 0.00000838●●●●●●
131. 5155093 c.1780G>T p.V594L missense 0.00000837●●●●●●
132. 5155093 c.1780G>A p.V594M missense 0.00000837●●●●●●
133. 5155092 c.1779C>A p.N593K missense 0.00000837●●●●●●
134. 5154170 c.857C>T p.P286L missense 0.00000836●●●●●●
135. 5153767 c.454C>A p.R152S missense 0.00000836●●●●●●
136. 5155088 c.1775G>A p.S592N missense 0.00000836●●●●●●
137. 5153767 c.454C>T p.R152C missense 0.00000836●●●●●●
138. 5153768 c.455G>A p.R152H missense 0.00000835●●●●●●
139. 5155075 c.1762G>C p.V588L missense 0.00000835●●●●●●
140. 5153771 c.458T>A p.L153Q missense 0.00000835●●●●●●
141. 5155049 c.1736G>A p.G579D missense 0.00000834●●●●●●
142. 5155049 c.1736G>T p.G579V missense 0.00000834●●●●●●
143. 5155057 c.1744C>A p.P582T missense 0.00000834●●●●●●
144. 5154275 c.962C>T p.A321V missense 0.00000833●●●●●●
145. 5154517 c.1204A>T p.I402F missense 0.00000833●●●●●●
146. 5155034 c.1721A>T p.D574V missense 0.00000833●●●●●●
147. 5154163 c.850C>T p.H284Y missense 0.00000833●●●●●●
148. 5153854 c.541T>G p.S181A missense 0.00000832●●●●●●
149. 5154277 c.964G>T p.D322Y missense 0.00000832●●●●●●
150. 5153834 c.521G>C p.G174A missense 0.00000832●●●●●●
151. 5153784 c.471C>A p.D157E missense 0.00000832●●●●●●
152. 5153863 c.550C>T p.R184C missense 0.00000831●●●●●●
153. 5155012 c.1699G>C p.G567R missense 0.00000831●●●●●●
154. 5155016 c.1703G>C p.G568A missense 0.00000831●●●●●●
155. 5153860 c.547G>T p.G183C missense 0.00000831●●●●●●
156. 5154279 c.966C>G p.D322E missense 0.00000831●●●●●●
157. 5155021 c.1708C>G p.L570V missense 0.00000831●●●●●●
158. 5153825 c.512G>A p.S171N missense 0.00000830●●●●●●
159. 5154997 c.1684T>A p.S562T missense 0.00000830●●●●●●
160. 5153813 c.500G>A p.R167H missense 0.00000830●●●●●●
161. 5154290 c.977T>G p.I326S missense 0.00000830●●●●●●
162. 5153816 c.503A>G p.N168S missense 0.00000830●●●●●●
163. 5154983 c.1670G>A p.S557N missense 0.00000830●●●●●●
164. 5153809 c.496G>T p.D166Y missense 0.00000830●●●●●●
165. 5153819 c.506G>C p.R169P missense 0.00000830●●●●●●
166. 5154984 c.1671C>A p.S557R missense 0.00000830●●●●●●
167. 5154956 c.1643T>C p.L548P missense 0.00000829●●●●●●
168. 5154949 c.1636C>T p.P546S missense 0.00000829●●●●●●
169. 5154302 c.989C>T p.T330M missense 0.00000829●●●●●●
170. 5154302 c.989C>A p.T330K missense 0.00000829●●●●●●
171. 5154310 c.997A>T p.I333F missense 0.00000828●●●●●●
172. 5154503 c.1190C>T p.A397V missense 0.00000828●●●●●●
173. 5153882 c.569A>G p.N190S missense 0.00000828●●●●●●
174. 5154149 c.836G>A p.R279H missense 0.00000828●●●●●●
175. 5154941 c.1628G>A p.S543N missense 0.00000828●●●●●●
176. 5153882 c.569A>C p.N190T missense 0.00000828●●●●●●
177. 5154947 c.1634G>A p.G545E missense 0.00000828●●●●●●
178. 5154932 c.1619G>T p.G540V missense 0.00000827●●●●●●
179. 5154322 c.1009T>C p.F337L missense 0.00000827●●●●●●
180. 5154625 c.1312A>G p.I438V missense 0.00000827●●●●●●
181. 5154935 c.1622C>T p.T541I missense 0.00000827●●●●●●
182. 5154140 c.827G>A p.R276K missense 0.00000827●●●●●●
183. 5154317 c.1004T>C p.F335S missense 0.00000827●●●●●●
184. 5153888 c.575C>A p.S192Y missense 0.00000827●●●●●●
185. 5154497 c.1184C>T p.S395F missense 0.00000827●●●●●●
186. 5154331 c.1018C>T p.L340F missense 0.00000826●●●●●●
187. 5153896 c.583G>T p.V195L missense 0.00000826●●●●●●
188. 5154914 c.1601T>C p.V534A missense 0.00000826●●●●●●
189. 5154334 c.1021G>T p.V341L missense 0.00000826●●●●●●
190. 5153896 c.583G>A p.V195M missense 0.00000826●●●●●●
191. 5153953 c.640C>T p.R214C missense 0.00000825●●●●●●
192. 5153939 c.626C>T p.A209V missense 0.00000825●●●●●●
193. 5154091 c.778A>T p.I260F missense 0.00000825●●●●●●
194. 5154365 c.1052G>C p.G351A missense 0.00000825●●●●●●
195. 5153911 c.598A>T p.I200L missense 0.00000825●●●●●●
196. 5153966 c.653G>T p.G218V missense 0.00000825●●●●●●
197. 5153947 c.634C>A p.R212S missense 0.00000825●●●●●●
198. 5154642 c.1329C>G p.I443M missense 0.00000825●●●●●●
199. 5154113 c.800T>C p.F267S missense 0.00000825●●●●●●
200. 5153932 c.619G>A p.D207N missense 0.00000825●●●●●●
201. 5154469 c.1156G>A p.G386S missense 0.00000825●●●●●●
202. 5153951 c.638T>C p.F213S missense 0.00000825●●●●●●
203. 5153914 c.601C>T p.R201C missense 0.00000825●●●●●●
204. 5153934 c.621C>G p.D207E missense 0.00000825●●●●●●
205. 5153952 c.639C>G p.F213L missense 0.00000825●●●●●●
206. 5154356 c.1043G>A p.S348N missense 0.00000825●●●●●●
207. 5154454 c.1141C>A p.P381T missense 0.00000824●●●●●●
208. 5154397 c.1084G>A p.V362M missense 0.00000824●●●●●●
209. 5154739 c.1426G>T p.V476F missense 0.00000824●●●●●●
210. 5154835 c.1522A>G p.I508V missense 0.00000824●●●●●●
211. 5154707 c.1394C>G p.S465C missense 0.00000824●●●●●●
212. 5154003 c.690C>G p.N230K missense 0.00000824●●●●●●
213. 5154676 c.1363G>A p.A455T missense 0.00000824●●●●●●
214. 5154046 c.733A>G p.S245G missense 0.00000824●●●●●●
215. 5154019 c.706G>A p.V236M missense 0.00000824●●●●●●
216. 5154859 c.1546G>A p.V516I missense 0.00000824●●●●●●
217. 5154799 c.1486G>A p.V496M missense 0.00000824●●●●●●
218. 5154006 c.693G>T p.E231D missense 0.00000824●●●●●●
219. 5154701 c.1388A>T p.H463L missense 0.00000824●●●●●●
220. 5154076 c.763G>A p.V255I missense 0.00000824●●●●●●
221. 5153995 c.682C>A p.P228T missense 0.00000824●●●●●●
222. 5154662 c.1349G>A p.S450N missense 0.00000824●●●●●●
223. 5154445 c.1132G>A p.E378K missense 0.00000824●●●●●●
224. 5154013 c.700C>T p.R234C missense 0.00000824●●●●●●
225. 5154832 c.1519A>T p.T507S missense 0.00000824●●●●●●
226. 5153999 c.686G>A p.R229H missense 0.00000824●●●●●●
227. 5154683 c.1370C>T p.A457V missense 0.00000824●●●●●●
228. 5154662 c.1349G>C p.S450T 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.