PRKAG2 variants in ExAC

PRKAG2 gene summary
PRKAG2 variants in DCM, HCM

The table below lists the PRKAG2 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. 151573698 c.8G>T p.S3I missense 0.00000833●●●●●●
2. 151573697 c.9C>G p.S3R missense 0.00000833●●●●●●
3. 151573680 c.26A>T p.K9M missense 0.00000831●●●●●●
4. 151573668 c.38A>G p.D13G missense 0.00000830●●●●●●
5. 151573666 c.40G>C p.V14L missense 0.00002489●●●●●●
6. 151573647 c.59G>T p.S20I missense 0.00648079●●●●●●
7. 151573639 c.67A>C p.K23Q missense 0.00000831●●●●●●
8. 151573615 c.91C>G p.R31G missense 0.00000832●●●●●●
9. 151573603 c.103G>A p.V35M missense 0.00001666●●●●●●
10. 151573598 c.108C>G p.H36Q missense 0.00000833●●●●●●
11. 151483623 c.119T>A p.L40Q missense 0.00001052●●●●●●
12. 151483620 c.122G>A p.S41N missense 0.00001042●●●●●●
13. 151483612 c.130G>A p.A44T missense 0.00024646●●●●●●
14. 151483611 c.131C>T p.A44V missense 0.00001022●●●●●●
15. 151483609 c.133A>G p.M45V missense 0.00001018●●●●●●
16. 151483608 c.134T>A p.M45K missense 0.00002037●●●●●●
17. 151483605 c.137C>A p.P46Q missense 0.00001013●●●●●●
18. 151483591 c.151G>C p.D51H missense 0.00001017●●●●●●
19. 151483576 c.166G>A p.G56R missense 0.00005281●●●●●●
20. 151483564 c.178T>C p.S60P missense 0.00001110●●●●●●
21. 151483561 c.181C>T p.R61X nonsense 0.00004552●●●●●●
22. 151478521 c.187-4G>A splice site 0.00001526●●●●●●
23. 151478508 c.196C>T p.P66S missense 0.00001362●●●●●●
24. 151478502 c.202G>A p.G68S missense 0.00006602●●●●●●
25. 151478498 c.206C>T p.P69L missense 0.00010384●●●●●●
26. 151478495 c.209G>A p.G70D missense 0.00001230●●●●●●
27. 151478480 c.224G>C p.G75A missense 0.00009808●●●●●●
28. 151478480 c.224G>T p.G75V missense 0.00001090●●●●●●
29. 151478479 c.225_239delGTTCTTCTCCAGAGG p.Phe76_Gly80del inframe 0.00001010●●●●●●
30. 151478459 c.245A>G p.Q82R missense 0.00000999●●●●●●
31. 151478457 c.247C>T p.P83S missense 0.00053750●●●●●●
32. 151478456 c.248C>T p.P83L missense 0.00019453●●●●●●
33. 151478454 c.250C>T p.R84W missense 0.00025352●●●●●●
34. 151478453 c.251G>A p.R84Q missense 0.00020243●●●●●●
35. 151478451 c.253C>A p.P85T missense 0.00001911●●●●●●
36. 151478450 c.254C>A p.P85H missense 0.00000954●●●●●●
37. 151478409 c.295C>T p.P99S missense 0.00000842●●●●●●
38. 151478406 c.298G>A p.G100S missense 0.00813226●●●●●●
39. 151478394 c.310A>G p.T104A missense 0.00000831●●●●●●
40. 151478391 c.313G>A p.V105M missense 0.00004150●●●●●●
41. 151478384 c.320C>T p.P107L missense 0.00000829●●●●●●
42. 151478379 c.325T>G p.S109A missense 0.00006622●●●●●●
43. 151478373 c.331C>A p.Q111K missense 0.00011581●●●●●●
44. 151478373 c.331C>G p.Q111E missense 0.00001654●●●●●●
45. 151478363 c.341C>T p.P114L missense 0.00003307●●●●●●
46. 151478363 c.341C>G p.P114R missense 0.00000827●●●●●●
47. 151478358 c.346C>T p.R116C missense 0.00003305●●●●●●
48. 151478357 c.347G>T p.R116L missense 0.00000826●●●●●●
49. 151478357 c.347G>A p.R116H missense 0.00000826●●●●●●
50. 151478354 c.350C>T p.S117F missense 0.00001652●●●●●●
51. 151478348 c.356G>A p.R119Q missense 0.00012391●●●●●●
52. 151478346 c.358C>T p.R120C missense 0.00000826●●●●●●
53. 151478345 c.359G>A p.R120H missense 0.00008261●●●●●●
54. 151478343 c.361A>G p.M121V missense 0.00000826●●●●●●
55. 151478343 c.361A>C p.M121L missense 0.00000826●●●●●●
56. 151478342 c.362T>A p.M121K missense 0.00000826●●●●●●
57. 151478339 c.365G>A p.S122N missense 0.00000826●●●●●●
58. 151478315 c.389C>A p.S130Y missense 0.00003303●●●●●●
59. 151478315 c.389C>T p.S130F missense 0.00000826●●●●●●
60. 151478309 c.395A>G p.K132R missense 0.00000826●●●●●●
61. 151478286 c.418C>T p.P140S missense 0.00004955●●●●●●
62. 151478279 c.425C>T p.T142I missense 0.00007434●●●●●●
63. 151478276 c.428C>T p.S143L missense 0.00000826●●●●●●
64. 151478273 c.431C>T p.P144L missense 0.00002479●●●●●●
65. 151478268 c.436G>C p.G146R missense 0.00000826●●●●●●
66. 151478250 c.454C>T p.R152C missense 0.00002481●●●●●●
67. 151478249 c.455G>A p.R152H missense 0.00003309●●●●●●
68. 151478247 c.457T>C p.S153P missense 0.00001655●●●●●●
69. 151478227 c.466+11G>C splice site 0.00002484●●●●●●
70. 151372718 c.472G>A p.G158S missense 0.00042081●●●●●●
71. 151372708 c.482C>T p.S161F missense 0.00001649●●●●●●
72. 151372705 c.485C>G p.S162C missense 0.00003298●●●●●●
73. 151372697 c.493A>G p.T165A missense 0.00000824●●●●●●
74. 151372690 c.500C>T p.T167I missense 0.00000824●●●●●●
75. 151372676 c.514C>G p.Q172E missense 0.00002472●●●●●●
76. 151372669 c.521C>T p.T174M missense 0.00004120●●●●●●
77. 151372651 c.539A>G p.Y180C missense 0.00002472●●●●●●
78. 151372649 c.541A>C p.K181Q missense 0.00001648●●●●●●
79. 151372636 c.554A>T p.E185V missense 0.00002472●●●●●●
80. 151372634 c.556C>T p.R186W missense 0.00002472●●●●●●
81. 151372633 c.557G>A p.R186Q missense 0.00001648●●●●●●
82. 151372628 c.562G>C p.E188Q missense 0.00001648●●●●●●
83. 151372628 c.562G>A p.E188K missense 0.00000824●●●●●●
84. 151372623 c.567T>G p.N189K missense 0.00000824●●●●●●
85. 151372619 c.571A>G p.I191V missense 0.00000824●●●●●●
86. 151372615 c.575A>G p.Y192C missense 0.00000824●●●●●●
87. 151372609 c.581C>T p.S194L missense 0.00003297●●●●●●
88. 151372606 c.584C>G p.S195C missense 0.00002473●●●●●●
89. 151372603 c.587C>T p.S196F missense 0.00000824●●●●●●
90. 151372600 c.590C>T p.P197L missense 0.00003298●●●●●●
91. 151372597 c.593C>T p.P198L missense 0.00000826●●●●●●
92. 151372597 c.593C>G p.P198R missense 0.00005784●●●●●●
93. 151372573 c.617C>T p.P206L missense 0.00001652●●●●●●
94. 151372558 c.632G>A p.S211N missense 0.00001655●●●●●●
95. 151372555 c.635C>T p.P212L missense 0.00001656●●●●●●
96. 151372549 c.641G>A p.R214K missense 0.00000830●●●●●●
97. 151372548 c.642G>C p.R214S missense 0.00000830●●●●●●
98. 151372519 c.671C>G p.A224G missense 0.00000838●●●●●●
99. 151372511 c.679A>G p.K227E missense 0.00001689●●●●●●
100. 151329230 c.685-6C>A splice site 0.00006753●●●●●●
101. 151329230 c.685-6C>T splice site 0.00001351●●●●●●
102. 151329229 c.685-5C>T splice site 0.00002702●●●●●●
103. 151329229 c.685-5C>A splice site 0.00001351●●●●●●
104. 151329218 c.691C>G p.L231V missense 0.00001279●●●●●●
105. 151329211 c.698C>G p.A233G missense 0.00022039●●●●●●
106. 151329205 c.704T>G p.L235R missense 0.00002524●●●●●●
107. 151329197 c.712G>A p.A238T missense 0.00014972●●●●●●
108. 151329191 c.718G>A p.A240T missense 0.00001248●●●●●●
109. 151329188 c.721G>A p.G241S missense 0.00001253●●●●●●
110. 151329182 c.727C>G p.L243V missense 0.00001257●●●●●●
111. 151292543 c.755-3T>C splice site 0.00000837●●●●●●
112. 151292541 c.755-1G>A essential splice site 0.00000833●●●●●●
113. 151292537 c.758T>C p.V253A missense 0.00001661●●●●●●
114. 151292511 c.784A>G p.M262V missense 0.00000826●●●●●●
115. 151292509 c.786G>A p.M262I missense 0.00000826●●●●●●
116. 151292507 c.788G>A p.R263Q missense 0.00003303●●●●●●
117. 151292488 c.807G>C p.K269N missense 0.00000825●●●●●●
118. 151292436 c.859_863delTTACA p.Leu287SerfsTer2 frameshift 0.00000832●●●●●●
119. 151273538 c.865G>A p.V289I missense 0.00000891●●●●●●
120. 151273537 c.866T>C p.V289A missense 0.00002670●●●●●●
121. 151273507 c.896A>G p.N299S missense 0.00000862●●●●●●
122. 151273498 c.905G>T p.R302L missense 0.00000862●●●●●●
123. 151273490 c.913C>G p.P305A missense 0.00000864●●●●●●
124. 151273468 c.935A>G p.Q312R missense 0.00000892●●●●●●
125. 151273466 c.937A>C p.S313R missense 0.00000895●●●●●●
126. 151273465 c.938G>A p.S313N missense 0.00000897●●●●●●
127. 151273458 c.945A>G splice site 0.00001838●●●●●●
128. 151273454 c.946+3A>G splice site 0.00013060●●●●●●
129. 151272035 c.947G>T p.G316V missense 0.00000830●●●●●●
130. 151272020 c.962C>T p.T321I missense 0.00000829●●●●●●
131. 151271985 c.997T>G p.S333A missense 0.00000827●●●●●●
132. 151271979 c.1003A>G p.M335V missense 0.00000827●●●●●●
133. 151271974 c.1005+3A>C splice site 0.00000827●●●●●●
134. 151269799 c.1006-4G>T splice site 0.00001772●●●●●●
135. 151269761 c.1040A>G p.E347G missense 0.00000826●●●●●●
136. 151267317 c.1052-6A>G splice site 0.00000829●●●●●●
137. 151267310 c.1053G>A splice site 0.00003315●●●●●●
138. 151267261 c.1102G>T p.A368S missense 0.00000832●●●●●●
139. 151267248 c.1106+9G>C splice site 0.00071646●●●●●●
140. 151265935 c.1107-7C>T splice site 0.00000825●●●●●●
141. 151265923 c.1112T>A p.F371Y missense 0.00000825●●●●●●
142. 151265921 c.1114G>C p.D372H missense 0.00000825●●●●●●
143. 151265876 c.1159G>A p.V387I missense 0.00001648●●●●●●
144. 151265802 c.1233T>C splice site 0.00000826●●●●●●
145. 151262977 c.1234-6G>T splice site 0.00000824●●●●●●
146. 151262977 c.1234-6G>A splice site 0.00002471●●●●●●
147. 151262967 c.1238C>G p.S413C missense 0.00001647●●●●●●
148. 151262950 c.1255G>A p.A419T missense 0.00000824●●●●●●
149. 151262938 c.1267C>A p.Q423K missense 0.00003295●●●●●●
150. 151262910 c.1295C>T p.T432M missense 0.00000824●●●●●●
151. 151262901 c.1304A>G p.N435S missense 0.00011531●●●●●●
152. 151262895 c.1310C>G p.A437G missense 0.00000824●●●●●●
153. 151262890 c.1315A>G p.I439V missense 0.00002471●●●●●●
154. 151262887 c.1318C>T p.H440Y missense 0.00018120●●●●●●
155. 151262881 c.1324G>A p.D442N missense 0.00000824●●●●●●
156. 151262856 c.1349A>G p.N450S missense 0.00001647●●●●●●
157. 151262854 c.1351A>G p.I451V missense 0.00001647●●●●●●
158. 151262852 c.1353A>G p.I451M missense 0.00000824●●●●●●
159. 151262847 c.1358T>C p.V453A missense 0.00000824●●●●●●
160. 151262841 c.1364G>A p.R455K missense 0.00000824●●●●●●
161. 151262839 c.1366C>G p.R456G missense 0.00000824●●●●●●
162. 151262815 c.1390G>A p.D464N missense 0.00004118●●●●●●
163. 151262798 c.1399+8T>G splice site 0.00000824●●●●●●
164. 151262437 c.1432G>A p.V478I missense 0.00003068●●●●●●
165. 151261315 c.1438-5T>C splice site 0.00001647●●●●●●
166. 151261313 c.1438-3C>A splice site 0.00000824●●●●●●
167. 151261273 c.1475T>A p.I492N missense 0.00003295●●●●●●
168. 151261259 c.1489G>T p.A497S missense 0.00000824●●●●●●
169. 151261252 c.1496A>G p.Q499R missense 0.00010707●●●●●●
170. 151261240 c.1508A>G p.Q503R missense 0.00001647●●●●●●
171. 151261223 c.1525G>T p.V509L missense 0.00000824●●●●●●
172. 151261219 c.1529A>G p.K510R missense 0.00001647●●●●●●
173. 151261213 c.1535A>G p.N512S missense 0.00001647●●●●●●
174. 151261213 c.1535A>T p.N512I missense 0.00000824●●●●●●
175. 151261187 c.1561G>A p.V521M missense 0.00000824●●●●●●
176. 151261184 c.1564G>T p.D522Y missense 0.00000824●●●●●●
177. 151261157 c.1584+7C>T splice site 0.00123546●●●●●●
178. 151261156 c.1584+8G>A splice site 0.00002471●●●●●●
179. 151257707 c.1585-4G>A splice site 0.00008240●●●●●●
180. 151257697 c.1591C>T p.R531W missense 0.00000824●●●●●●
181. 151257675 c.1613C>A p.A538E missense 0.00000824●●●●●●
182. 151257664 c.1624G>T p.V542L missense 0.00000824●●●●●●
183. 151257663 c.1625T>C p.V542A missense 0.00000824●●●●●●
184. 151257640 c.1648A>C p.I550L missense 0.00003295●●●●●●
185. 151257628 c.1660C>G p.L554V missense 0.00000824●●●●●●
186. 151254328 c.1679-10C>T splice site 0.00002471●●●●●●
187. 151254325 c.1679-7C>T splice site 0.00000824●●●●●●
188. 151254321 c.1679-3C>T splice site 0.00017296●●●●●●
189. 151254318 c.1679G>C p.G560A missense 0.00000824●●●●●●
190. 151254316 c.1681G>A p.A561T missense 0.00000824●●●●●●
191. 151254316 c.1681G>C p.A561P missense 0.00000824●●●●●●
192. 151254310 c.1687C>T p.Q563X nonsense 0.00000824●●●●●●
193. 151254304 c.1693G>A p.E565K missense 0.00000824●●●●●●
194. 151254304 c.1693G>C p.E565Q missense 0.00000824●●●●●●
195. 151254294 c.1703C>T p.T568M missense 0.00009884●●●●●●
196. 151254292 c.1705G>A p.E569K 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.