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