GCKR variants in ExAC

GCKR gene summary
GCKR variants in

The table below lists the GCKR 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. 27730940 c.1337T>C p.L446P missense 0.64285007●●●●●●
2. 27720274 c.216+8_216+9delAG splice site 0.01184881●●●●●●
3. 27745373 c.1619G>A p.R540Q missense 0.00430104●●●●●●
4. 27721143 c.307G>A p.V103M missense 0.00228295●●●●●●
5. 27726437 c.701A>C p.Q234P missense 0.00207243●●●●●●
6. 27720442 c.230A>G p.E77G missense 0.00193585●●●●●●
7. 27746196 c.1768C>T p.H590Y missense 0.00147132●●●●●●
8. 27730169 c.1134_1135insA p.T379Nfs*66 frameshift 0.00116139●●●●●●
9. 27721190 c.354G>A p.S118S splice site 0.00102248●●●●●●
10. 27745372 c.1618C>T p.R540X nonsense 0.00088165●●●●●●
11. 27746184 c.1756G>T p.E586X nonsense 0.00062027●●●●●●
12. 27720456 c.244A>G p.T82A missense 0.00061784●●●●●●
13. 27726415 c.679C>T p.R227X nonsense 0.00039628●●●●●●
14. 27726416 c.680G>A p.R227Q missense 0.00038793●●●●●●
15. 27741810 c.1572+6G>A splice site 0.00032154●●●●●●
16. 27720425 c.217-4A>G splice site 0.00027184●●●●●●
17. 27721670 c.428+6C>T splice site 0.00026390●●●●●●
18. 27745393 c.1639C>A p.P547T missense 0.00025540●●●●●●
19. 27720202 c.152G>A p.R51Q missense 0.00025535●●●●●●
20. 27730941 c.1338G>C p.L446L splice site 0.00023893●●●●●●
21. 27720440 c.228C>A p.S76R missense 0.00021418●●●●●●
22. 27741665 c.1433G>A p.R478H missense 0.00018945●●●●●●
23. 27719786 c.15_16insCGGTTT p.Lys5_Arg6insArgPhe inframe 0.00018129●●●●●●
24. 27722312 c.544_545delCT p.S183Cfs*292 frameshift 0.00018120●●●●●●
25. 27741787 c.1555G>A p.A519T missense 0.00017302●●●●●●
26. 27741783 c.1551G>T p.W517C missense 0.00016477●●●●●●
27. 27729397 c.919T>G p.Y307D missense 0.00016475●●●●●●
28. 27730107 c.1072C>T p.R358X nonsense 0.00016473●●●●●●
29. 27721631 c.395C>T p.P132L missense 0.00015653●●●●●●
30. 27729412 c.934A>G p.K312E missense 0.00015652●●●●●●
31. 27728609 c.775C>T p.R259W missense 0.00014828●●●●●●
32. 27726392 c.656T>C p.I219T missense 0.00014088●●●●●●
33. 27741745 c.1513_1514delAT p.M505Vfs*6 frameshift 0.00014003●●●●●●
34. 27730551 c.1147C>A p.P383T missense 0.00013183●●●●●●
35. 27730182 c.1143+4G>A splice site 0.00013180●●●●●●
36. 27720451 c.239T>C p.L80P missense 0.00012356●●●●●●
37. 27729382 c.904G>A p.A302T missense 0.00011533●●●●●●
38. 27720177 c.127A>G p.K43E missense 0.00011532●●●●●●
39. 27729368 c.890G>A p.R297Q missense 0.00010711●●●●●●
40. 27728600 c.766G>A p.G256S missense 0.00010709●●●●●●
41. 27722273 c.505G>A p.G169R missense 0.00010707●●●●●●
42. 27720421 c.217-8C>T splice site 0.00009885●●●●●●
43. 27722316 c.548C>T p.S183F missense 0.00009884●●●●●●
44. 27726476 c.740C>T p.P247L missense 0.00009293●●●●●●
45. 27719812 c.41C>T p.P14L missense 0.00009073●●●●●●
46. 27729753 c.1066+1G>A essential splice site 0.00009062●●●●●●
47. 27729683 c.997G>T p.V333F missense 0.00009060●●●●●●
48. 27730834 c.1241-10C>T splice site 0.00008317●●●●●●
49. 27719788 c.17G>A p.R6Q missense 0.00008241●●●●●●
50. 27728610 c.776G>A p.R259Q missense 0.00008238●●●●●●
51. 27728588 c.754G>A p.E252K missense 0.00008238●●●●●●
52. 27721186 c.350T>A p.M117K missense 0.00007420●●●●●●
53. 27720483 c.271C>A p.Q91K missense 0.00007416●●●●●●
54. 27720441 c.229G>A p.E77K missense 0.00007414●●●●●●
55. 27746229 c.1801G>A p.V601I missense 0.00006609●●●●●●
56. 27745328 c.1574G>A p.R525Q missense 0.00006594●●●●●●
57. 27721156 c.320G>T p.G107V missense 0.00006592●●●●●●
58. 27741782 c.1550G>A p.W517X nonsense 0.00006591●●●●●●
59. 27724002 c.550G>T p.A184S missense 0.00006589●●●●●●
60. 27724062 c.610G>A p.V204I missense 0.00006589●●●●●●
61. 27746176 c.1748C>T p.S583L missense 0.00005792●●●●●●
62. 27731124 c.1422+6G>A splice site 0.00005782●●●●●●
63. 27745351 c.1597C>T p.R533X nonsense 0.00005769●●●●●●
64. 27745339 c.1585C>T p.Q529X nonsense 0.00005769●●●●●●
65. 27729365 c.887T>G p.L296W missense 0.00005768●●●●●●
66. 27741743 c.1511A>G p.H504R missense 0.00005766●●●●●●
67. 27721116 c.286-6C>T splice site 0.00004949●●●●●●
68. 27719797 c.26A>G p.H9R missense 0.00004945●●●●●●
69. 27721171 c.335G>A p.R112Q missense 0.00004945●●●●●●
70. 27728703 c.869G>A p.R290K missense 0.00004944●●●●●●
71. 27745412 c.1658G>A p.R553Q missense 0.00004943●●●●●●
72. 27720121 c.71A>G p.Y24C missense 0.00004942●●●●●●
73. 27730117 c.1082G>A p.R361H missense 0.00004942●●●●●●
74. 27720112 c.62_65delTGTC p.Ser22GlyfsTer15 frameshift 0.00004942●●●●●●
75. 27720222 c.172G>A p.A58T missense 0.00004942●●●●●●
76. 27746199 c.1771C>G p.L591V missense 0.00004132●●●●●●
77. 27720486 c.274G>A p.E92K missense 0.00004121●●●●●●
78. 27720460 c.248T>C p.M83T missense 0.00004119●●●●●●
79. 27741784 c.1552C>T p.R518W missense 0.00004119●●●●●●
80. 27721626 c.390G>T p.Q130H missense 0.00004119●●●●●●
81. 27741740 c.1508A>G p.N503S missense 0.00004118●●●●●●
82. 27729674 c.988G>A p.V330M missense 0.00004118●●●●●●
83. 27741664 c.1432C>T p.R478C missense 0.00004118●●●●●●
84. 27726484 c.748G>A p.G250R missense 0.00003454●●●●●●
85. 27746298 c.1870G>A p.V624I missense 0.00003333●●●●●●
86. 27746169 c.1741C>T p.R581W missense 0.00003313●●●●●●
87. 27730847 c.1244A>G p.N415S missense 0.00003310●●●●●●
88. 27731122 c.1422+4T>C splice site 0.00003303●●●●●●
89. 27730642 c.1238A>G p.D413G missense 0.00003301●●●●●●
90. 27745327 c.1573C>T p.R525W missense 0.00003297●●●●●●
91. 27745330 c.1576T>G p.F526V missense 0.00003297●●●●●●
92. 27741785 c.1553G>A p.R518Q missense 0.00003296●●●●●●
93. 27741758 c.1526G>A p.R509Q missense 0.00003295●●●●●●
94. 27728679 c.845A>T p.D282V missense 0.00003295●●●●●●
95. 27729407 c.929G>A p.S310N missense 0.00003295●●●●●●
96. 27729379 c.901C>T p.R301X nonsense 0.00003295●●●●●●
97. 27728609 c.775C>G p.R259G missense 0.00003295●●●●●●
98. 27728585 c.751C>T p.P251S missense 0.00003295●●●●●●
99. 27720201 c.151C>T p.R51X nonsense 0.00003295●●●●●●
100. 27746148 c.1720G>A p.A574T missense 0.00002490●●●●●●
101. 27726454 c.718C>T p.Q240X nonsense 0.00002485●●●●●●
102. 27720505 c.285+8C>A splice site 0.00002477●●●●●●
103. 27719785 c.14A>G p.K5R missense 0.00002473●●●●●●
104. 27729756 c.1066+4G>C splice site 0.00002472●●●●●●
105. 27721150 c.314G>A p.S105N missense 0.00002472●●●●●●
106. 27721603 c.367C>G p.Q123E missense 0.00002472●●●●●●
107. 27720459 c.247A>G p.M83V missense 0.00002471●●●●●●
108. 27741773 c.1541A>G p.K514R missense 0.00002471●●●●●●
109. 27720176 c.126C>A p.D42E missense 0.00002471●●●●●●
110. 27729380 c.902G>A p.R301Q missense 0.00002471●●●●●●
111. 27728666 c.832C>G p.H278D missense 0.00002471●●●●●●
112. 27720123 c.73G>A p.E25K missense 0.00002471●●●●●●
113. 27728591 c.757G>A p.G253S missense 0.00002471●●●●●●
114. 27722055 c.475G>A p.G159R missense 0.00002471●●●●●●
115. 27729414 c.936_939delGATT p.Ile313ProfsTer3 frameshift 0.00002471●●●●●●
116. 27720160 c.110T>A p.L37Q missense 0.00002471●●●●●●
117. 27729740 c.1054A>G p.T352A missense 0.00002471●●●●●●
118. 27726387 c.651C>A p.D217E missense 0.00001661●●●●●●
119. 27746269 c.1841C>T p.A614V missense 0.00001658●●●●●●
120. 27746248 c.1820G>A p.G607E missense 0.00001654●●●●●●
121. 27746193 c.1765G>A p.A589T missense 0.00001653●●●●●●
122. 27746244 c.1816G>A p.A606T missense 0.00001653●●●●●●
123. 27719832 c.60+1G>A essential splice site 0.00001652●●●●●●
124. 27746230 c.1802T>C p.V601A missense 0.00001652●●●●●●
125. 27746217 c.1789G>A p.V597I missense 0.00001652●●●●●●
126. 27726430 c.694C>T p.R232W missense 0.00001651●●●●●●
127. 27722004 c.429-5C>G splice site 0.00001650●●●●●●
128. 27720500 c.285+3A>G splice site 0.00001650●●●●●●
129. 27719811 c.40C>T p.P14S missense 0.00001649●●●●●●
130. 27745456 c.1702G>A p.E568K missense 0.00001649●●●●●●
131. 27741806 c.1572+2T>C essential splice site 0.00001649●●●●●●
132. 27721189 c.353C>T p.S118L missense 0.00001649●●●●●●
133. 27721130 c.294_295insG p.Leu101AlafsTer22 frameshift 0.00001649●●●●●●
134. 27720454 c.242C>T p.T81I missense 0.00001648●●●●●●
135. 27721610 c.374T>A p.M125K missense 0.00001648●●●●●●
136. 27720483 c.271C>T p.Q91X nonsense 0.00001648●●●●●●
137. 27728678 c.844G>C p.D282H missense 0.00001648●●●●●●
138. 27721657 c.421G>A p.G141S missense 0.00001648●●●●●●
139. 27730913 c.1310C>T p.A437V missense 0.00001648●●●●●●
140. 27730608 c.1204G>A p.E402K missense 0.00001648●●●●●●
141. 27745403 c.1649A>G p.D550G missense 0.00001648●●●●●●
142. 27719788 c.17G>C p.R6P missense 0.00001648●●●●●●
143. 27729367 c.889C>T p.R297W missense 0.00001648●●●●●●
144. 27730915 c.1312C>T p.H438Y missense 0.00001648●●●●●●
145. 27729392 c.914_915insGACC p.Tyr307AspfsTer51 frameshift 0.00001648●●●●●●
146. 27730921 c.1318A>G p.T440A missense 0.00001648●●●●●●
147. 27728587 c.753C>T splice site 0.00001648●●●●●●
148. 27745423 c.1669A>G p.I557V missense 0.00001648●●●●●●
149. 27745360 c.1606G>A p.E536K missense 0.00001648●●●●●●
150. 27730922 c.1319C>T p.T440I missense 0.00001648●●●●●●
151. 27730624 c.1220T>G p.V407G missense 0.00001648●●●●●●
152. 27730941 c.1338G>A splice site 0.00001648●●●●●●
153. 27745411 c.1657C>T p.R553W missense 0.00001648●●●●●●
154. 27729708 c.1022T>C p.I341T missense 0.00001647●●●●●●
155. 27720157 c.107C>T p.P36L missense 0.00001647●●●●●●
156. 27720107 c.61-4C>T splice site 0.00001647●●●●●●
157. 27724002 c.550G>C p.A184P missense 0.00001647●●●●●●
158. 27720184 c.134A>G p.D45G missense 0.00001647●●●●●●
159. 27720169 c.119A>T p.D40V missense 0.00001647●●●●●●
160. 27741731 c.1499T>G p.I500S missense 0.00001647●●●●●●
161. 27741718 c.1486C>T p.L496F missense 0.00001647●●●●●●
162. 27722292 c.524T>G p.V175G missense 0.00001647●●●●●●
163. 27724050 c.598G>A p.V200I missense 0.00001647●●●●●●
164. 27726492 c.750+6G>A splice site 0.00000885●●●●●●
165. 27726481 c.745A>G p.I249V missense 0.00000855●●●●●●
166. 27726476 c.740C>G p.P247R missense 0.00000845●●●●●●
167. 27726467 c.731T>A p.V244E missense 0.00000836●●●●●●
168. 27746306 c.1878A>T p.Ter626CysextTer44 nonsense 0.00000835●●●●●●
169. 27746305 c.1877G>T p.Ter626LeuextTer44 nonsense 0.00000835●●●●●●
170. 27746128 c.1708-8delC splice site 0.00000833●●●●●●
171. 27746130 c.1708-6C>A splice site 0.00000833●●●●●●
172. 27746292 c.1864C>T p.P622S missense 0.00000832●●●●●●
173. 27726386 c.650A>T p.D217V missense 0.00000831●●●●●●
174. 27746140 c.1712T>C p.I571T missense 0.00000831●●●●●●
175. 27746143 c.1715C>T p.P572L missense 0.00000831●●●●●●
176. 27726385 c.649G>T p.D217Y missense 0.00000831●●●●●●
177. 27746281 c.1853A>G p.E618G missense 0.00000831●●●●●●
178. 27746269 c.1841C>A p.A614E missense 0.00000829●●●●●●
179. 27746273 c.1845C>A p.D615E missense 0.00000829●●●●●●
180. 27746175 c.1747T>C p.S583P missense 0.00000828●●●●●●
181. 27730845 c.1242C>T splice site 0.00000828●●●●●●
182. 27746188 c.1760C>T p.A587V missense 0.00000827●●●●●●
183. 27730849 c.1246C>G p.L416V missense 0.00000827●●●●●●
184. 27746188 c.1760C>A p.A587D missense 0.00000827●●●●●●
185. 27731118 c.1422G>A splice site 0.00000826●●●●●●
186. 27746221 c.1793G>A p.C598Y missense 0.00000826●●●●●●
187. 27731126 c.1422+8G>T splice site 0.00000826●●●●●●
188. 27719831 c.60G>A p.E20E splice site 0.00000826●●●●●●
189. 27731121 c.1422+3A>G splice site 0.00000826●●●●●●
190. 27746225 c.1797G>C p.E599D missense 0.00000826●●●●●●
191. 27746208 c.1780G>T p.A594S missense 0.00000826●●●●●●
192. 27726436 c.700C>T p.Gln234Ter nonsense 0.00000826●●●●●●
193. 27726443 c.707T>G p.M236R missense 0.00000826●●●●●●
194. 27726444 c.708G>A p.M236I missense 0.00000826●●●●●●
195. 27721194 c.354+4A>G splice site 0.00000825●●●●●●
196. 27720505 c.285+8delC splice site 0.00000825●●●●●●
197. 27729344 c.870-4C>T splice site 0.00000825●●●●●●
198. 27731108 c.1412A>C p.N471T missense 0.00000825●●●●●●
199. 27721197 c.354+7A>C splice site 0.00000825●●●●●●
200. 27719818 c.47C>T p.P16L missense 0.00000825●●●●●●
201. 27731086 c.1390C>T p.L464F missense 0.00000825●●●●●●
202. 27726431 c.695G>A p.R232Q missense 0.00000825●●●●●●
203. 27726416 c.680G>T p.R227L missense 0.00000825●●●●●●
204. 27720499 c.285+2T>G essential splice site 0.00000825●●●●●●
205. 27720496 c.284A>G p.K95R missense 0.00000825●●●●●●
206. 27720263 c.213C>G p.Y71X nonsense 0.00000825●●●●●●
207. 27726422 c.686T>C p.V229A missense 0.00000825●●●●●●
208. 27721122 c.286G>A p.E96K missense 0.00000825●●●●●●
209. 27730868 c.1265T>C p.I422T missense 0.00000825●●●●●●
210. 27721118 c.286-4T>A splice site 0.00000825●●●●●●
211. 27721191 c.354+1G>A essential splice site 0.00000825●●●●●●
212. 27720265 c.215A>C p.Q72P missense 0.00000825●●●●●●
213. 27722001 c.429-8C>A splice site 0.00000825●●●●●●
214. 27721131 c.295G>A p.G99R missense 0.00000825●●●●●●
215. 27745325 c.1573-2A>G essential splice site 0.00000824●●●●●●
216. 27730907 c.1304C>A p.A435D missense 0.00000824●●●●●●
217. 27728618 c.784G>A p.G262S missense 0.00000824●●●●●●
218. 27730873 c.1270G>A p.E424K missense 0.00000824●●●●●●
219. 27728604 c.770C>T p.S257F missense 0.00000824●●●●●●
220. 27729453 c.968+7G>T splice site 0.00000824●●●●●●
221. 27730606 c.1202C>T p.T401M missense 0.00000824●●●●●●
222. 27730549 c.1145G>A p.G382D missense 0.00000824●●●●●●
223. 27720186 c.136G>T p.A46S missense 0.00000824●●●●●●
224. 27745348 c.1594G>A p.A532T missense 0.00000824●●●●●●
225. 27720201 c.151C>G p.R51G missense 0.00000824●●●●●●
226. 27730104 c.1069T>A p.F357I missense 0.00000824●●●●●●
227. 27722264 c.496G>A p.V166M missense 0.00000824●●●●●●
228. 27731079 c.1383G>A p.W461X nonsense 0.00000824●●●●●●
229. 27719796 c.25C>T p.H9Y missense 0.00000824●●●●●●
230. 27745363 c.1609A>C p.S537R missense 0.00000824●●●●●●
231. 27741697 c.1465G>C p.V489L missense 0.00000824●●●●●●
232. 27729391 c.913G>A p.V305M missense 0.00000824●●●●●●
233. 27745367 c.1613T>G p.L538R missense 0.00000824●●●●●●
234. 27720427 c.217-2A>G essential splice site 0.00000824●●●●●●
235. 27731047 c.1351A>G p.K451E missense 0.00000824●●●●●●
236. 27730924 c.1321G>A p.V441M missense 0.00000824●●●●●●
237. 27720495 c.283A>C p.K95Q missense 0.00000824●●●●●●
238. 27730632 c.1228T>G p.F410V missense 0.00000824●●●●●●
239. 27720432 c.220C>G p.L74V missense 0.00000824●●●●●●
240. 27720235 c.185A>T p.Q62L missense 0.00000824●●●●●●
241. 27722300 c.532A>G p.I178V missense 0.00000824●●●●●●
242. 27720146 c.96G>T p.E32D missense 0.00000824●●●●●●
243. 27741788 c.1556C>T p.A519V missense 0.00000824●●●●●●
244. 27724104 c.644+8T>C splice site 0.00000824●●●●●●
245. 27745430 c.1676G>A p.C559Y missense 0.00000824●●●●●●
246. 27730168 c.1133T>C p.L378P missense 0.00000824●●●●●●
247. 27724011 c.559G>T p.V187L missense 0.00000824●●●●●●
248. 27720171 c.121C>G p.L41V missense 0.00000824●●●●●●
249. 27729741 c.1055C>G p.T352S missense 0.00000824●●●●●●
250. 27722044 c.464G>A p.S155N missense 0.00000824●●●●●●
251. 27721590 c.355-1G>A essential splice site 0.00000824●●●●●●
252. 27729356 c.878T>C p.L293P missense 0.00000824●●●●●●
253. 27721134 c.298G>A p.G100R missense 0.00000824●●●●●●
254. 27728674 c.840_841delTG p.Val281GlyfsTer19 frameshift 0.00000824●●●●●●
255. 27720198 c.148G>A p.V50I missense 0.00000824●●●●●●
256. 27728627 c.793G>C p.A265P missense 0.00000824●●●●●●
257. 27730185 c.1143+7G>A splice site 0.00000824●●●●●●
258. 27729453 c.968+7G>C splice site 0.00000824●●●●●●
259. 27730564 c.1160T>C p.F387S missense 0.00000824●●●●●●
260. 27720191 c.141G>C p.E47D missense 0.00000824●●●●●●
261. 27729673 c.987_988insGTGTACCT p.V333Cfs*18 frameshift 0.00000824●●●●●●
262. 27730884 c.1281A>C p.K427N missense 0.00000824●●●●●●
263. 27745363 c.1609A>G p.S537G missense 0.00000824●●●●●●
264. 27730128 c.1093A>G p.I365V missense 0.00000824●●●●●●
265. 27730108 c.1073G>A p.R358Q missense 0.00000824●●●●●●
266. 27741707 c.1475G>A p.G492D missense 0.00000824●●●●●●
267. 27729442 c.964A>G p.T322A missense 0.00000824●●●●●●
268. 27722257 c.496-7C>T splice site 0.00000824●●●●●●
269. 27741701 c.1469_1470insT p.Thr491TyrfsTer9 frameshift 0.00000824●●●●●●
270. 27729687 c.1001G>A p.G334D missense 0.00000824●●●●●●
271. 27731048 c.1352A>C p.K451T missense 0.00000824●●●●●●
272. 27730934 c.1331C>A p.T444N missense 0.00000824●●●●●●
273. 27728693 c.859G>A p.A287T missense 0.00000824●●●●●●
274. 27741671 c.1439T>A p.L480Q missense 0.00000824●●●●●●
275. 27730885 c.1282G>A p.E428K missense 0.00000824●●●●●●
276. 27730174 c.1139A>G p.N380S missense 0.00000824●●●●●●
277. 27745448 c.1694A>G p.H565R missense 0.00000824●●●●●●
278. 27730173 c.1138A>C p.N380H missense 0.00000824●●●●●●
279. 27724039 c.587A>G p.N196S missense 0.00000824●●●●●●
280. 27720174 c.124G>A p.D42N missense 0.00000824●●●●●●
281. 27729436 c.958G>A p.V320I missense 0.00000824●●●●●●
282. 27728577 c.751-8C>T splice site 0.00000824●●●●●●
283. 27721660 c.424G>A p.D142N missense 0.00000824●●●●●●
284. 27728583 c.751-2A>G essential splice site 0.00000824●●●●●●
285. 27729746 c.1060G>C p.G354R missense 0.00000824●●●●●●
286. 27722052 c.472C>A p.H158N missense 0.00000824●●●●●●
287. 27719802 c.31A>G p.I11V missense 0.00000824●●●●●●
288. 27722069 c.489_491delGAA p.Lys165del inframe 0.00000824●●●●●●
289. 27741663 c.1431G>T p.Q477H missense 0.00000824●●●●●●
290. 27741652 c.1423-3C>T splice site 0.00000824●●●●●●
291. 27728613 c.779T>C p.M260T missense 0.00000824●●●●●●
292. 27720480 c.268G>A p.V90I missense 0.00000824●●●●●●
293. 27720210 c.160G>C p.G54R missense 0.00000824●●●●●●
294. 27729760 c.1066+8C>A splice site 0.00000824●●●●●●
295. 27730616 c.1212T>A p.D404E missense 0.00000824●●●●●●
296. 27722321 c.549+4A>G splice site 0.00000824●●●●●●
297. 27731031 c.1339-4C>A splice site 0.00000824●●●●●●
298. 27721586 c.355-5delG splice site 0.00000824●●●●●●
299. 27745404 c.1650T>G p.D550E missense 0.00000824●●●●●●
300. 27730161 c.1126G>T p.A376S missense 0.00000824●●●●●●
301. 27722310 c.542G>T p.G181V missense 0.00000824●●●●●●
302. 27730116 c.1081C>T p.R361C missense 0.00000824●●●●●●
303. 27722291 c.523G>A p.V175I missense 0.00000824●●●●●●
304. 27720129 c.79G>A p.A27T missense 0.00000824●●●●●●
305. 27741713 c.1481A>G p.H494R missense 0.00000824●●●●●●
306. 27745325 c.1573-2A>T essential splice site 0.00000824●●●●●●
307. 27729699 c.1013T>C p.L338P missense 0.00000824●●●●●●
308. 27729675 c.989T>G p.V330G missense 0.00000824●●●●●●
309. 27721634 c.398T>C p.L133P missense 0.00000824●●●●●●
310. 27719772 c.1A>G p.Met1? missense 0.00000824●●●●●●
311. 27731042 c.1346T>C p.L449P missense 0.00000824●●●●●●
312. 27728694 c.860C>G p.A287G missense 0.00000824●●●●●●
313. 27741754 c.1522C>T p.L508F missense 0.00000824●●●●●●
314. 27731059 c.1363T>C p.S455P missense 0.00000824●●●●●●
315. 27741757 c.1525C>T p.R509W missense 0.00000824●●●●●●
316. 27730898 c.1295A>G p.H432R missense 0.00000824●●●●●●
317. 27730588 c.1184C>G p.S395C missense 0.00000824●●●●●●
318. 27745451 c.1697A>T p.E566V missense 0.00000824●●●●●●
319. 27730175 c.1140C>G p.N380K missense 0.00000824●●●●●●
320. 27745345 c.1591A>G p.K531E missense 0.00000824●●●●●●
321. 27729747 c.1061G>C p.G354A missense 0.00000824●●●●●●
322. 27719803 c.32T>G p.I11S missense 0.00000824●●●●●●
323. 27719792 c.21T>A p.F7L missense 0.00000824●●●●●●
324. 27729741 c.1055C>T p.T352I missense 0.00000824●●●●●●
325. 27721152 c.316G>A p.G106R missense 0.00000824●●●●●●
326. 27722076 c.495+1G>T essential splice site 0.00000824●●●●●●
327. 27729388 c.910C>A p.Q304K missense 0.00000824●●●●●●
328. 27720177 c.127delA p.Ala44GlnfsTer10 frameshift 0.00000824●●●●●●
329. 27728679 c.845A>G p.D282G missense 0.00000824●●●●●●
330. 27720486 c.274G>T p.E92X nonsense 0.00000824●●●●●●
331. 27745359 c.1605C>G p.I535M missense 0.00000824●●●●●●
332. 27730181 c.1143+3C>T splice site 0.00000824●●●●●●
333. 27720142 c.92C>T p.T31M missense 0.00000824●●●●●●
334. 27722323 c.549+6T>C splice site 0.00000824●●●●●●
335. 27728676 c.842T>C p.V281A missense 0.00000824●●●●●●
336. 27730161 c.1126G>A p.A376T missense 0.00000824●●●●●●
337. 27741796 c.1564A>G p.M522V missense 0.00000824●●●●●●
338. 27722040 c.460G>A p.D154N missense 0.00000824●●●●●●
339. 27729681 c.995T>C p.L332P missense 0.00000824●●●●●●
340. 27721637 c.401A>G p.Y134C missense 0.00000824●●●●●●
341. 27729368 c.890G>T p.R297L missense 0.00000824●●●●●●
342. 27729355 c.877C>A p.L293M missense 0.00000824●●●●●●
343. 27721131 c.295_297delGGG p.Gly99del inframe 0.00000824●●●●●●
344. 27731065 c.1369A>G p.I457V 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.