CLCNKA variants in ExAC

CLCNKA gene summary
CLCNKA variants in

The table below lists the CLCNKA 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. 16358932 c.1846-6T>C splice site 0.68822217●●●●●●
2. 16351275 c.247A>G p.R83G missense 0.56363892●●●●●●
3. 16356501 c.1339G>A p.A447T missense 0.56122229●●●●●●
4. 16354590 c.944A>T p.Y315F missense 0.20701425●●●●●●
5. 16360137 c.2048C>T p.P683L missense 0.07955113●●●●●●
6. 16357147 c.1600C>T p.R534W missense 0.07875388●●●●●●
7. 16356522 c.1360A>G p.T454A missense 0.07782373●●●●●●
8. 16356531 c.1369G>A p.V457I missense 0.07741480●●●●●●
9. 16355638 c.1071T>A p.H357Q missense 0.07668914●●●●●●
10. 16355614 c.1054-7G>A splice site 0.06231763●●●●●●
11. 16349137 c.23G>A p.R8H missense 0.03833675●●●●●●
12. 16355287 c.1000C>G p.L334V missense 0.02241712●●●●●●
13. 16355613 c.1054-8C>T splice site 0.00259717●●●●●●
14. 16357159 c.1612C>T p.R538C missense 0.00256389●●●●●●
15. 16354581 c.935C>T p.T312I missense 0.00243094●●●●●●
16. 16355249 c.969-7C>G splice site 0.00236939●●●●●●
17. 16358348 c.1756+10T>C splice site 0.00231481●●●●●●
18. 16355800 c.1227+6delC splice site 0.00224558●●●●●●
19. 16349224 c.100+10A>G splice site 0.00215464●●●●●●
20. 16350417 c.223G>T p.V75F missense 0.00201204●●●●●●
21. 16353020 c.499-11_499-10insC splice site 0.00174361●●●●●●
22. 16358248 c.1666A>G p.T556A missense 0.00142658●●●●●●
23. 16359717 c.1982G>A p.R661Q missense 0.00135206●●●●●●
24. 16359674 c.1939C>T p.L647F missense 0.00131915●●●●●●
25. 16351338 c.310G>A p.V104I missense 0.00117942●●●●●●
26. 16356971 c.1424C>T p.S475L missense 0.00114958●●●●●●
27. 16354505 c.867-8C>T splice site 0.00092275●●●●●●
28. 16349110 c.-5G>A splice site 0.00089829●●●●●●
29. 16351266 c.238T>G p.W80G missense 0.00070329●●●●●●
30. 16350315 c.121C>A p.Q41K missense 0.00069340●●●●●●
31. 16350328 c.134G>A p.R45H missense 0.00059406●●●●●●
32. 16356535 c.1373C>A p.T458N missense 0.00054935●●●●●●
33. 16355714 c.1147G>T p.D383Y missense 0.00052208●●●●●●
34. 16354556 c.910C>T p.R304X nonsense 0.00046964●●●●●●
35. 16357167 c.1620C>T p.I540I splice site 0.00044322●●●●●●
36. 16358289 c.1707delG p.Val570LeufsTer2 frameshift 0.00036496●●●●●●
37. 16355763 c.1196T>A p.F399Y missense 0.00036467●●●●●●
38. 16357097 c.1550C>T p.P517L missense 0.00034334●●●●●●
39. 16354586 c.940C>G p.R314G missense 0.00029666●●●●●●
40. 16356950 c.1409-6C>T splice site 0.00025935●●●●●●
41. 16357117 c.1570A>G p.I524V missense 0.00022624●●●●●●
42. 16358742 c.1801C>T p.Q601X nonsense 0.00018840●●●●●●
43. 16349169 c.55C>T p.Q19X nonsense 0.00017726●●●●●●
44. 16357148 c.1601G>A p.R534Q missense 0.00015016●●●●●●
45. 16352753 c.498+11G>C splice site 0.00013239●●●●●●
46. 16353276 c.655+6_655+7insC splice site 0.00012503●●●●●●
47. 16357101 c.1554_1556delCTT p.Phe519del inframe 0.00011723●●●●●●
48. 16349203 c.89G>A p.R30Q missense 0.00010881●●●●●●
49. 16349102 c.-7-6C>T splice site 0.00010510●●●●●●
50. 16349188 c.74G>A p.C25Y missense 0.00009909●●●●●●
51. 16355670 c.1103C>T p.A368V missense 0.00009168●●●●●●
52. 16349146 c.32T>C p.F11S missense 0.00008587●●●●●●
53. 16353931 c.781+1G>C essential splice site 0.00008358●●●●●●
54. 16353256 c.641C>G p.A214G missense 0.00008309●●●●●●
55. 16358267 c.1685C>T p.T562M missense 0.00008294●●●●●●
56. 16356498 c.1336G>A p.V446I missense 0.00008275●●●●●●
57. 16355251 c.969-5C>A splice site 0.00008255●●●●●●
58. 16358690 c.1757-8C>T splice site 0.00007664●●●●●●
59. 16357001 c.1454C>T p.A485V missense 0.00007562●●●●●●
60. 16358308 c.1726G>A p.V576M missense 0.00007467●●●●●●
61. 16358728 c.1787G>A p.R596K missense 0.00006829●●●●●●
62. 16358297 c.1715C>T p.T572I missense 0.00006636●●●●●●
63. 16355246 c.969-10C>T splice site 0.00006608●●●●●●
64. 16355251 c.969-5C>G splice site 0.00006604●●●●●●
65. 16353796 c.656-9C>T splice site 0.00005833●●●●●●
66. 16349215 c.100+1G>T essential splice site 0.00005813●●●●●●
67. 16358254 c.1672C>A p.L558M missense 0.00005805●●●●●●
68. 16355747 c.1180C>T p.P394S missense 0.00005799●●●●●●
69. 16355293 c.1006G>A p.A336T missense 0.00005776●●●●●●
70. 16351372 c.344C>T p.T115M missense 0.00005773●●●●●●
71. 16349205 c.91G>A p.A31T missense 0.00005517●●●●●●
72. 16349200 c.86G>A p.R29H missense 0.00005332●●●●●●
73. 16349199 c.85C>T p.R29C missense 0.00005276●●●●●●
74. 16349108 c.-7G>A splice site 0.00005044●●●●●●
75. 16357036 c.1489C>T p.H497Y missense 0.00005019●●●●●●
76. 16357167 c.1620C>A splice site 0.00005018●●●●●●
77. 16358314 c.1732G>A p.E578K missense 0.00004977●●●●●●
78. 16358975 c.1883C>T p.T628M missense 0.00004970●●●●●●
79. 16355309 c.1022C>T p.P341L missense 0.00004953●●●●●●
80. 16349181 c.67G>A p.G23S missense 0.00004775●●●●●●
81. 16349179 c.65G>A p.W22X nonsense 0.00004740●●●●●●
82. 16349122 c.8A>C p.E3A missense 0.00004699●●●●●●
83. 16349136 c.22C>T p.R8C missense 0.00004434●●●●●●
84. 16349139 c.25delG p.Glu9ArgfsTer8 frameshift 0.00004352●●●●●●
85. 16349154 c.40G>A p.D14N missense 0.00004308●●●●●●
86. 16349160 c.46G>A p.V16M missense 0.00004279●●●●●●
87. 16355351 c.1053+11C>T splice site 0.00004132●●●●●●
88. 16350428 c.229+5C>T splice site 0.00004123●●●●●●
89. 16359717 c.1982G>C p.R661P missense 0.00004122●●●●●●
90. 16356268 c.1270G>A p.G424R missense 0.00004120●●●●●●
91. 16358754 c.1813G>C p.A605P missense 0.00003433●●●●●●
92. 16357048 c.1501G>A p.V501M missense 0.00003350●●●●●●
93. 16353903 c.754C>T p.L252F missense 0.00003325●●●●●●
94. 16355750 c.1183C>T p.R395W missense 0.00003314●●●●●●
95. 16353209 c.594delC p.Asn198LysfsTer98 frameshift 0.00003314●●●●●●
96. 16351259 c.231A>G splice site 0.00003311●●●●●●
97. 16358932 c.1846-6_1846-5insAACTCTTCCCCACC splice site 0.00003306●●●●●●
98. 16353061 c.529G>A p.A177T missense 0.00003306●●●●●●
99. 16359737 c.2002G>A p.V668M missense 0.00003299●●●●●●
100. 16350415 c.221T>C p.V74A missense 0.00003298●●●●●●
101. 16350363 c.169G>A p.G57R missense 0.00003298●●●●●●
102. 16356277 c.1279A>G p.M427V missense 0.00003296●●●●●●
103. 16358787 c.1845+1G>T essential splice site 0.00002619●●●●●●
104. 16358775 c.1834C>G p.P612A missense 0.00002599●●●●●●
105. 16354379 c.845_847delTCT p.Phe285del inframe 0.00002589●●●●●●
106. 16357073 c.1526A>G p.N509S missense 0.00002525●●●●●●
107. 16356552 c.1390G>A p.G464R missense 0.00002512●●●●●●
108. 16357022 c.1475C>G p.T492S missense 0.00002511●●●●●●
109. 16357160 c.1613G>A p.R538H missense 0.00002507●●●●●●
110. 16353927 c.778C>T p.Q260X nonsense 0.00002504●●●●●●
111. 16358197 c.1623-8G>A splice site 0.00002493●●●●●●
112. 16356514 c.1352G>A p.G451D missense 0.00002489●●●●●●
113. 16355708 c.1141G>T p.E381X nonsense 0.00002487●●●●●●
114. 16353852 c.703G>T p.D235Y missense 0.00002485●●●●●●
115. 16353034 c.502C>T p.P168S missense 0.00002485●●●●●●
116. 16353850 c.701G>C p.R234P missense 0.00002485●●●●●●
117. 16355751 c.1184G>A p.R395Q missense 0.00002485●●●●●●
118. 16355338 c.1051C>T p.R351W missense 0.00002477●●●●●●
119. 16351300 c.272_273insC p.Arg92ProfsTer101 frameshift 0.00002475●●●●●●
120. 16355285 c.998T>G p.L333W missense 0.00002475●●●●●●
121. 16355293 c.1006G>C p.A336P missense 0.00002475●●●●●●
122. 16350409 c.215G>T p.G72V missense 0.00002474●●●●●●
123. 16350366 c.172G>T p.V58L missense 0.00002474●●●●●●
124. 16354526 c.880G>T p.V294F missense 0.00002472●●●●●●
125. 16352630 c.386T>C p.M129T missense 0.00002471●●●●●●
126. 16356951 c.1409-5G>A splice site 0.00001728●●●●●●
127. 16356951 c.1409-5G>T splice site 0.00001728●●●●●●
128. 16354383 c.849_850insT p.Val286CysfsTer38 frameshift 0.00001724●●●●●●
129. 16358760 c.1819C>T p.P607S missense 0.00001720●●●●●●
130. 16356965 c.1418C>A p.A473D missense 0.00001707●●●●●●
131. 16358720 c.1779C>G p.I593M missense 0.00001705●●●●●●
132. 16356567 c.1405G>T p.A469S missense 0.00001688●●●●●●
133. 16357024 c.1477G>A p.G493S missense 0.00001674●●●●●●
134. 16356555 c.1393G>A p.G465R missense 0.00001674●●●●●●
135. 16353921 c.772A>G p.S258G missense 0.00001666●●●●●●
136. 16358290 c.1708G>T p.V570F missense 0.00001660●●●●●●
137. 16358342 c.1756+4C>T splice site 0.00001660●●●●●●
138. 16355697 c.1130C>T p.P377L missense 0.00001660●●●●●●
139. 16353822 c.673G>A p.E225K missense 0.00001659●●●●●●
140. 16358251 c.1669A>G p.T557A missense 0.00001659●●●●●●
141. 16358249 c.1667C>A p.T556N missense 0.00001659●●●●●●
142. 16359018 c.1926C>A p.H642Q missense 0.00001658●●●●●●
143. 16355711 c.1144C>T p.L382F missense 0.00001658●●●●●●
144. 16358980 c.1888delC p.Pro630GlnfsTer2 frameshift 0.00001657●●●●●●
145. 16358993 c.1901C>T p.T634M missense 0.00001657●●●●●●
146. 16358953 c.1861A>G p.I621V missense 0.00001656●●●●●●
147. 16356475 c.1313G>A p.R438H missense 0.00001655●●●●●●
148. 16356471 c.1309G>A p.G437R missense 0.00001655●●●●●●
149. 16356496 c.1334C>T p.A445V missense 0.00001655●●●●●●
150. 16356453 c.1298-7T>C splice site 0.00001655●●●●●●
151. 16356474 c.1312C>T p.R438C missense 0.00001655●●●●●●
152. 16355251 c.969-5C>T splice site 0.00001651●●●●●●
153. 16352745 c.498+3A>G splice site 0.00001651●●●●●●
154. 16351397 c.358+11G>A splice site 0.00001650●●●●●●
155. 16355272 c.985G>A p.A329T missense 0.00001650●●●●●●
156. 16351302 c.274C>T p.R92W missense 0.00001650●●●●●●
157. 16354610 c.964A>G p.T322A missense 0.00001650●●●●●●
158. 16359726 c.1991C>T p.A664V missense 0.00001649●●●●●●
159. 16359678 c.1943T>C p.F648S missense 0.00001649●●●●●●
160. 16354590 c.944A>G p.Y315C missense 0.00001649●●●●●●
161. 16352716 c.472G>A p.G158S missense 0.00001648●●●●●●
162. 16354557 c.911G>A p.R304Q missense 0.00001648●●●●●●
163. 16354526 c.880G>A p.V294I missense 0.00001648●●●●●●
164. 16356294 c.1296_1297insG p.Ala434SerfsTer17 frameshift 0.00001648●●●●●●
165. 16354543 c.897C>G p.Tyr299Ter nonsense 0.00001648●●●●●●
166. 16352627 c.383C>T p.T128I missense 0.00001647●●●●●●
167. 16358791 c.1845+5T>G splice site 0.00000879●●●●●●
168. 16358787 c.1845+1G>A essential splice site 0.00000873●●●●●●
169. 16358785 c.1844A>C p.Q615P missense 0.00000871●●●●●●
170. 16356949 c.1409-7C>T splice site 0.00000865●●●●●●
171. 16358764 c.1823C>T p.P608L missense 0.00000861●●●●●●
172. 16358752 c.1811A>G p.Q604R missense 0.00000858●●●●●●
173. 16356958 c.1411G>C p.A471P missense 0.00000858●●●●●●
174. 16358746 c.1805C>T p.A602V missense 0.00000856●●●●●●
175. 16358721 c.1780G>A p.V594M missense 0.00000853●●●●●●
176. 16358716 c.1775G>C p.G592A missense 0.00000853●●●●●●
177. 16356970 c.1423T>G p.S475A missense 0.00000852●●●●●●
178. 16358696 c.1757-2A>G essential splice site 0.00000852●●●●●●
179. 16358691 c.1757-7T>A splice site 0.00000852●●●●●●
180. 16358694 c.1757-4C>G splice site 0.00000852●●●●●●
181. 16358700 c.1759_1760insC p.Gln588ProfsTer19 frameshift 0.00000852●●●●●●
182. 16356973 c.1426G>A p.G476R missense 0.00000850●●●●●●
183. 16356979 c.1432G>A p.V478M missense 0.00000847●●●●●●
184. 16356982 c.1435A>G p.T479A missense 0.00000846●●●●●●
185. 16357061 c.1514T>C p.V505A missense 0.00000845●●●●●●
186. 16357060 c.1513G>A p.V505M missense 0.00000843●●●●●●
187. 16356991 c.1444A>G p.I482V missense 0.00000843●●●●●●
188. 16357072 c.1525A>C p.N509H missense 0.00000842●●●●●●
189. 16357052 c.1505T>C p.L502P missense 0.00000842●●●●●●
190. 16357075 c.1528G>A p.A510T missense 0.00000841●●●●●●
191. 16356561 c.1399G>A p.A467T missense 0.00000840●●●●●●
192. 16353937 c.781+7C>T splice site 0.00000838●●●●●●
193. 16357040 c.1493C>T p.A498V missense 0.00000837●●●●●●
194. 16357174 c.1622+5G>T splice site 0.00000837●●●●●●
195. 16357024 c.1477G>C p.G493R missense 0.00000837●●●●●●
196. 16357031 c.1484T>G p.I495R missense 0.00000837●●●●●●
197. 16357112 c.1565G>A p.G522D missense 0.00000837●●●●●●
198. 16357022 c.1475C>T p.T492I missense 0.00000837●●●●●●
199. 16357168 c.1621G>A p.G541S missense 0.00000836●●●●●●
200. 16357172 c.1622+3G>T splice site 0.00000836●●●●●●
201. 16360098 c.2017-8T>C splice site 0.00000835●●●●●●
202. 16353929 c.780G>C p.Q260H missense 0.00000835●●●●●●
203. 16357150 c.1603A>G p.I535V missense 0.00000834●●●●●●
204. 16357145 c.1598C>T p.P533L missense 0.00000834●●●●●●
205. 16360104 c.2017-2A>C essential splice site 0.00000834●●●●●●
206. 16357152 c.1605T>G p.I535M missense 0.00000834●●●●●●
207. 16353923 c.774C>G p.S258R missense 0.00000834●●●●●●
208. 16357148 c.1601G>T p.R534L missense 0.00000834●●●●●●
209. 16360109 c.2020A>C p.K674Q missense 0.00000833●●●●●●
210. 16353918 c.769A>G p.N257D missense 0.00000833●●●●●●
211. 16355670 c.1103C>G p.A368G missense 0.00000833●●●●●●
212. 16360143 c.2054C>T p.A685V missense 0.00000833●●●●●●
213. 16353799 c.656-6C>A splice site 0.00000833●●●●●●
214. 16355799 c.1227+5G>T splice site 0.00000832●●●●●●
215. 16353910 c.761C>A p.A254E missense 0.00000832●●●●●●
216. 16355796 c.1227+2T>C essential splice site 0.00000831●●●●●●
217. 16353901 c.752G>C p.R251P missense 0.00000831●●●●●●
218. 16353807 c.658G>C p.V220L missense 0.00000831●●●●●●
219. 16358206 c.1624T>C p.S542P missense 0.00000831●●●●●●
220. 16358199 c.1623-6C>T splice site 0.00000831●●●●●●
221. 16353252 c.637_638delTT p.Phe213CysfsTer68 frameshift 0.00000831●●●●●●
222. 16356531 c.1369_1375delGTTACCA p.Val457IlefsTer20 frameshift 0.00000831●●●●●●
223. 16355795 c.1227+1G>A essential splice site 0.00000831●●●●●●
224. 16353899 c.750C>G p.F250L missense 0.00000831●●●●●●
225. 16358339 c.1756+1G>A essential splice site 0.00000830●●●●●●
226. 16358331 c.1749G>C p.E583D missense 0.00000830●●●●●●
227. 16353874 c.725C>T p.A242V missense 0.00000830●●●●●●
228. 16358300 c.1718C>A p.S573Y missense 0.00000830●●●●●●
229. 16358333 c.1751G>A p.S584N missense 0.00000830●●●●●●
230. 16353885 c.736G>C p.G246R missense 0.00000830●●●●●●
231. 16358212 c.1630C>A p.H544N missense 0.00000830●●●●●●
232. 16353817 c.668G>T p.S223I missense 0.00000830●●●●●●
233. 16355778 c.1211T>A p.F404Y missense 0.00000830●●●●●●
234. 16353874 c.725C>G p.A242G missense 0.00000830●●●●●●
235. 16353822 c.673G>T p.E225X nonsense 0.00000830●●●●●●
236. 16358342 c.1756+4C>A splice site 0.00000830●●●●●●
237. 16359014 c.1922T>C p.L641S missense 0.00000829●●●●●●
238. 16351251 c.230-7T>A splice site 0.00000829●●●●●●
239. 16355763 c.1196T>G p.F399C missense 0.00000829●●●●●●
240. 16353828 c.679A>G p.M227V missense 0.00000829●●●●●●
241. 16353863 c.714G>C p.R238S missense 0.00000829●●●●●●
242. 16355708 c.1141G>A p.E381K missense 0.00000829●●●●●●
243. 16355771 c.1204C>A p.L402I missense 0.00000829●●●●●●
244. 16359019 c.1927C>A p.Q643K missense 0.00000829●●●●●●
245. 16353865 c.716G>T p.G239V missense 0.00000829●●●●●●
246. 16358270 c.1688C>T p.P563L missense 0.00000829●●●●●●
247. 16359022 c.1929+1G>A essential splice site 0.00000829●●●●●●
248. 16358242 c.1660A>G p.S554G missense 0.00000829●●●●●●
249. 16359016 c.1924C>T p.H642Y missense 0.00000829●●●●●●
250. 16353866 c.717_718insT p.Phe241LeufsTer41 frameshift 0.00000829●●●●●●
251. 16356507 c.1345C>T p.P449S missense 0.00000829●●●●●●
252. 16353834 c.685T>C p.S229P missense 0.00000828●●●●●●
253. 16355731 c.1164G>T p.W388C missense 0.00000828●●●●●●
254. 16356458 c.1298-2A>C essential splice site 0.00000828●●●●●●
255. 16353040 c.508G>C p.V170L missense 0.00000828●●●●●●
256. 16353038 c.506T>C p.F169S missense 0.00000828●●●●●●
257. 16356452 c.1298-8G>A splice site 0.00000828●●●●●●
258. 16355738 c.1171T>C p.W391R missense 0.00000828●●●●●●
259. 16356492 c.1330C>T p.L444F missense 0.00000828●●●●●●
260. 16353835 c.686C>T p.S229F missense 0.00000828●●●●●●
261. 16353040 c.508G>T p.V170L missense 0.00000828●●●●●●
262. 16356452 c.1298-8G>C splice site 0.00000828●●●●●●
263. 16356474 c.1312C>A p.R438S missense 0.00000828●●●●●●
264. 16355748 c.1181C>T p.P394L missense 0.00000828●●●●●●
265. 16355722 c.1155G>C p.Q385H missense 0.00000828●●●●●●
266. 16353040 c.508G>A p.V170M missense 0.00000828●●●●●●
267. 16353035 c.503C>T p.P168L missense 0.00000828●●●●●●
268. 16356465 c.1303G>T p.A435S missense 0.00000828●●●●●●
269. 16353856 c.707A>G p.Y236C missense 0.00000828●●●●●●
270. 16353044 c.512A>G p.H171R missense 0.00000827●●●●●●
271. 16350288 c.101-7G>A splice site 0.00000827●●●●●●
272. 16351264 c.236A>G p.Q79R missense 0.00000827●●●●●●
273. 16353076 c.544C>G p.R182G missense 0.00000827●●●●●●
274. 16356477 c.1315C>T p.L439F missense 0.00000827●●●●●●
275. 16351273 c.245A>T p.Y82F missense 0.00000827●●●●●●
276. 16353103 c.571C>G p.P191A missense 0.00000827●●●●●●
277. 16350306 c.112T>G p.W38G missense 0.00000826●●●●●●
278. 16355339 c.1052G>A p.R351Q missense 0.00000826●●●●●●
279. 16359758 c.2016+7G>A splice site 0.00000826●●●●●●
280. 16355342 c.1053+2T>C essential splice site 0.00000826●●●●●●
281. 16359759 c.2016+8G>C splice site 0.00000826●●●●●●
282. 16354614 c.968G>C p.S323T missense 0.00000826●●●●●●
283. 16350303 c.109G>C p.E37Q missense 0.00000826●●●●●●
284. 16355348 c.1053+8G>A splice site 0.00000826●●●●●●
285. 16351357 c.329T>C p.F110S missense 0.00000825●●●●●●
286. 16351295 c.267C>A p.H89Q missense 0.00000825●●●●●●
287. 16350334 c.140G>T p.G47V missense 0.00000825●●●●●●
288. 16354604 c.958C>G p.L320V missense 0.00000825●●●●●●
289. 16351386 c.358G>A p.G120S missense 0.00000825●●●●●●
290. 16359725 c.1990G>A p.A664T missense 0.00000825●●●●●●
291. 16350396 c.202A>G p.N68D missense 0.00000825●●●●●●
292. 16355284 c.997T>A p.L333M missense 0.00000825●●●●●●
293. 16359659 c.1930-6A>T splice site 0.00000825●●●●●●
294. 16355315 c.1028G>C p.G343A missense 0.00000825●●●●●●
295. 16351316 c.288G>T p.W96C missense 0.00000825●●●●●●
296. 16350321 c.127G>A p.V43M missense 0.00000825●●●●●●
297. 16350408 c.214G>A p.G72R missense 0.00000825●●●●●●
298. 16355321 c.1034G>A p.G345D missense 0.00000825●●●●●●
299. 16350393 c.199A>G p.M67V missense 0.00000825●●●●●●
300. 16355252 c.969-4A>G splice site 0.00000825●●●●●●
301. 16351354 c.326G>A p.G109D missense 0.00000825●●●●●●
302. 16351389 c.358+3G>A splice site 0.00000825●●●●●●
303. 16350372 c.178A>T p.M60L missense 0.00000825●●●●●●
304. 16350430 c.229+7C>T splice site 0.00000825●●●●●●
305. 16359729 c.1994T>C p.V665A missense 0.00000825●●●●●●
306. 16351282 c.254T>C p.I85T missense 0.00000825●●●●●●
307. 16354612 c.966T>G splice site 0.00000825●●●●●●
308. 16350429 c.229+6T>C splice site 0.00000825●●●●●●
309. 16350327 c.133C>T p.R45C missense 0.00000825●●●●●●
310. 16351372 c.344C>A p.T115K missense 0.00000825●●●●●●
311. 16350334 c.140G>A p.G47E missense 0.00000825●●●●●●
312. 16350420 c.226C>T p.R76X nonsense 0.00000825●●●●●●
313. 16351390 c.358+4A>C splice site 0.00000825●●●●●●
314. 16350388 c.194A>G p.Y65C missense 0.00000825●●●●●●
315. 16352675 c.431T>C p.F144S missense 0.00000824●●●●●●
316. 16359687 c.1952T>C p.L651S missense 0.00000824●●●●●●
317. 16354542 c.896A>T p.Y299F missense 0.00000824●●●●●●
318. 16359714 c.1979C>T p.S660L missense 0.00000824●●●●●●
319. 16354584 c.938A>C p.N313T missense 0.00000824●●●●●●
320. 16354515 c.869G>C p.G290A missense 0.00000824●●●●●●
321. 16352598 c.359-5C>G splice site 0.00000824●●●●●●
322. 16356300 c.1297+5G>A splice site 0.00000824●●●●●●
323. 16356269 c.1271_1273delGGT p.Gly424_Tyr425delinsAsp inframe 0.00000824●●●●●●
324. 16352689 c.445G>T p.V149L missense 0.00000824●●●●●●
325. 16359692 c.1957C>T p.L653F missense 0.00000824●●●●●●
326. 16354587 c.941G>C p.R314P missense 0.00000824●●●●●●
327. 16352723 c.479C>A p.T160N missense 0.00000824●●●●●●
328. 16354572 c.926_928delTCA p.Ile310del inframe 0.00000824●●●●●●
329. 16359716 c.1981C>T p.R661W missense 0.00000824●●●●●●
330. 16352636 c.392C>T p.A131V missense 0.00000824●●●●●●
331. 16352615 c.371C>T p.P124L missense 0.00000824●●●●●●
332. 16354521 c.875G>A p.C292Y missense 0.00000824●●●●●●
333. 16354509 c.867-4G>A splice site 0.00000824●●●●●●
334. 16352690 c.446T>A p.V149E missense 0.00000824●●●●●●
335. 16352601 c.359-2A>C essential splice site 0.00000824●●●●●●
336. 16356223 c.1228-3C>T splice site 0.00000824●●●●●●
337. 16359697 c.1962G>T p.Q654H missense 0.00000824●●●●●●
338. 16354587 c.941G>A p.R314Q missense 0.00000824●●●●●●
339. 16354557 c.911G>C p.R304P missense 0.00000824●●●●●●
340. 16356278 c.1280T>C p.M427T missense 0.00000824●●●●●●
341. 16352663 c.419A>G p.D140G missense 0.00000824●●●●●●
342. 16354533 c.887G>A p.S296N missense 0.00000824●●●●●●
343. 16356298 c.1297+3delG essential splice site 0.00000824●●●●●●
344. 16356297 c.1297+2T>A essential splice site 0.00000824●●●●●●
345. 16352608 c.364delG p.Gly122GlufsTer5 frameshift 0.00000824●●●●●●
346. 16352711 c.467C>T p.A156V missense 0.00000824●●●●●●
347. 16354574 c.928A>C p.I310L missense 0.00000824●●●●●●
348. 16356298 c.1297+3G>T splice site 0.00000824●●●●●●
349. 16359707 c.1972G>A p.V658M missense 0.00000824●●●●●●
350. 16354523 c.877G>A p.G293S missense 0.00000824●●●●●●
351. 16356269 c.1271G>C p.G424A 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.