PRKAG2 missense variants in ExAC

PRKAG2 gene summary
PRKAG2 variants in DCM, HCM

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