PKM variants in ExAC

PKM gene summary
PKM variants in

The table below lists the PKM 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. 72502115 c.464A>G p.N155S missense 0.00213323●●●●●●
2. 72511458 c.-13-7G>A splice site 0.00111120●●●●●●
3. 72494786 c.1307+9C>T splice site 0.00050220●●●●●●
4. 72509852 c.155-11T>C splice site 0.00027326●●●●●●
5. 72511282 c.154+3G>A splice site 0.00026437●●●●●●
6. 72509823 c.173T>C p.V58A missense 0.00023074●●●●●●
7. 72502198 c.381C>T p.S127S splice site 0.00023063●●●●●●
8. 72501092 c.706G>A p.D236N missense 0.00011531●●●●●●
9. 72509743 c.246+7T>G splice site 0.00010721●●●●●●
10. 72500965 c.833G>A p.R278Q missense 0.00010708●●●●●●
11. 72492096 c.1491C>T p.G497G splice site 0.00008823●●●●●●
12. 72494955 c.1147C>T p.R383C missense 0.00008804●●●●●●
13. 72501157 c.641C>T p.A214V missense 0.00007417●●●●●●
14. 72502744 c.322G>A p.V108I missense 0.00007413●●●●●●
15. 72491995 c.1592C>T p.P531L missense 0.00006043●●●●●●
16. 72492010 c.1577G>A p.R526H missense 0.00005959●●●●●●
17. 72499172 c.1037G>A p.S346N missense 0.00005809●●●●●●
18. 72502151 c.428C>T p.T143M missense 0.00005765●●●●●●
19. 72501001 c.797A>G p.K266R missense 0.00005765●●●●●●
20. 72499083 c.1126C>T p.R376C missense 0.00004983●●●●●●
21. 72502140 c.439G>A p.A147T missense 0.00004942●●●●●●
22. 72501133 c.665C>T p.S222L missense 0.00004942●●●●●●
23. 72494814 c.1288G>A p.V430I missense 0.00004664●●●●●●
24. 72501214 c.584C>T p.T195M missense 0.00004301●●●●●●
25. 72502826 c.247-7C>A splice site 0.00004123●●●●●●
26. 72501227 c.571G>A p.D191N missense 0.00003678●●●●●●
27. 72494906 c.1196G>A p.R399H missense 0.00003628●●●●●●
28. 72494897 c.1205C>T p.A402V missense 0.00003622●●●●●●
29. 72511434 c.5C>T p.S2L missense 0.00003305●●●●●●
30. 72509803 c.193A>G p.I65V missense 0.00003296●●●●●●
31. 72509781 c.215C>T p.A72V missense 0.00003296●●●●●●
32. 72502125 c.454T>G p.C152G missense 0.00003295●●●●●●
33. 72502688 c.378C>T splice site 0.00003295●●●●●●
34. 72494785 c.1307+10G>A splice site 0.00003101●●●●●●
35. 72494907 c.1195C>T p.R399C missense 0.00002721●●●●●●
36. 72499086 c.1123G>A p.V375M missense 0.00002490●●●●●●
37. 72492923 c.1381C>T p.R461C missense 0.00002483●●●●●●
38. 72492922 c.1382G>A p.R461H missense 0.00002483●●●●●●
39. 72492911 c.1393C>A p.L465M missense 0.00002481●●●●●●
40. 72509753 c.243T>G p.H81Q missense 0.00002474●●●●●●
41. 72499465 c.987+3A>T splice site 0.00002473●●●●●●
42. 72499509 c.946C>T p.R316W missense 0.00002472●●●●●●
43. 72502136 c.443A>G p.Y148C missense 0.00002471●●●●●●
44. 72500966 c.832C>T p.R278W missense 0.00002471●●●●●●
45. 72502788 c.278C>T p.T93I missense 0.00002471●●●●●●
46. 72502792 c.274C>T p.R92C missense 0.00002471●●●●●●
47. 72502684 c.378+4A>C splice site 0.00002471●●●●●●
48. 72502776 c.290G>A p.S97N missense 0.00002471●●●●●●
49. 72501098 c.700G>A p.E234K missense 0.00002471●●●●●●
50. 72494959 c.1143T>C splice site 0.00001962●●●●●●
51. 72501200 c.598G>A p.G200S missense 0.00001675●●●●●●
52. 72511459 c.-13-8C>T splice site 0.00001673●●●●●●
53. 72501193 c.605C>T p.S202F missense 0.00001664●●●●●●
54. 72492820 c.1484A>T p.N495I missense 0.00001654●●●●●●
55. 72511284 c.154+1_154+3delGTG essential splice site 0.00001652●●●●●●
56. 72492848 c.1456G>A p.V486M missense 0.00001652●●●●●●
57. 72511417 c.22G>A p.A8T missense 0.00001649●●●●●●
58. 72502818 c.248A>G p.Y83C missense 0.00001648●●●●●●
59. 72499508 c.947G>A p.R316Q missense 0.00001648●●●●●●
60. 72500951 c.836+11G>A splice site 0.00001648●●●●●●
61. 72501143 c.655C>T p.P219S missense 0.00001648●●●●●●
62. 72511365 c.74C>T p.T25I missense 0.00001648●●●●●●
63. 72502812 c.254C>T p.A85V missense 0.00001648●●●●●●
64. 72502190 c.389C>T p.A130V missense 0.00001647●●●●●●
65. 72502009 c.565+5G>T splice site 0.00001647●●●●●●
66. 72502005 c.565+9G>A splice site 0.00001647●●●●●●
67. 72502134 c.445A>G p.M149V missense 0.00001647●●●●●●
68. 72502756 c.310C>T p.L104F missense 0.00001647●●●●●●
69. 72492104 c.1490-7C>T splice site 0.00001058●●●●●●
70. 72492100 c.1490-3C>T splice site 0.00001013●●●●●●
71. 72494968 c.1141-7C>A splice site 0.00001006●●●●●●
72. 72494968 c.1141-7C>T splice site 0.00001006●●●●●●
73. 72501240 c.566-8T>G splice site 0.00000989●●●●●●
74. 72494795 c.1307G>C p.R436T missense 0.00000976●●●●●●
75. 72501238 c.566-6A>G splice site 0.00000975●●●●●●
76. 72494802 c.1300T>A p.S434T missense 0.00000955●●●●●●
77. 72494937 c.1165A>G p.I389V missense 0.00000937●●●●●●
78. 72492088 c.1499G>A p.R500Q missense 0.00000925●●●●●●
79. 72494925 c.1177C>G p.Q393E missense 0.00000915●●●●●●
80. 72494903 c.1199G>T p.R400L missense 0.00000907●●●●●●
81. 72494903 c.1199G>A p.R400H missense 0.00000907●●●●●●
82. 72492085 c.1502G>A p.G501D missense 0.00000904●●●●●●
83. 72494865 c.1237G>A p.A413T missense 0.00000900●●●●●●
84. 72494879 c.1223C>T p.P408L missense 0.00000899●●●●●●
85. 72494844 c.1258T>G p.S420A missense 0.00000898●●●●●●
86. 72491991 c.1596A>G p.Ter532TrpextTer26 nonsense 0.00000869●●●●●●
87. 72491993 c.1594T>C p.Ter532ArgextTer26 nonsense 0.00000867●●●●●●
88. 72492001 c.1586delC p.Pro529LeufsTer24 frameshift 0.00000857●●●●●●
89. 72492059 c.1528A>C p.I510L missense 0.00000851●●●●●●
90. 72492996 c.1308G>A splice site 0.00000850●●●●●●
91. 72492996 c.1308G>C p.R436S missense 0.00000850●●●●●●
92. 72492014 c.1573A>G p.M525V missense 0.00000849●●●●●●
93. 72492040 c.1547G>A p.R516H missense 0.00000845●●●●●●
94. 72492041 c.1546C>T p.R516C missense 0.00000845●●●●●●
95. 72492979 c.1325C>T p.A442V missense 0.00000841●●●●●●
96. 72499224 c.988-3C>T splice site 0.00000838●●●●●●
97. 72492970 c.1334G>A p.R445H missense 0.00000837●●●●●●
98. 0 c.-13-7G>C splice site 0.00000835●●●●●●
99. 0 c.-13-4C>T splice site 0.00000834●●●●●●
100. 72499193 c.1016G>A p.R339H missense 0.00000833●●●●●●
101. 72492958 c.1346_1347delCC p.Pro449HisfsTer35 frameshift 0.00000833●●●●●●
102. 0 c.-13-3C>T splice site 0.00000833●●●●●●
103. 72499187 c.1022C>T p.T341I missense 0.00000832●●●●●●
104. 72499190 c.1019C>A p.P340H missense 0.00000832●●●●●●
105. 72499082 c.1127G>A p.R376H missense 0.00000831●●●●●●
106. 72492940 c.1364G>A p.R455Q missense 0.00000830●●●●●●
107. 72499134 c.1075A>G p.I359V missense 0.00000829●●●●●●
108. 72499140 c.1069G>A p.D357N missense 0.00000829●●●●●●
109. 72499100 c.1109A>G p.Y370C missense 0.00000829●●●●●●
110. 72492811 c.1489+4C>T splice site 0.00000827●●●●●●
111. 72492917 c.1387G>T p.A463S missense 0.00000827●●●●●●
112. 72509848 c.155-7C>T splice site 0.00000827●●●●●●
113. 72492905 c.1399C>T p.R467C missense 0.00000827●●●●●●
114. 72492827 c.1477G>A p.A493T missense 0.00000826●●●●●●
115. 72509844 c.155-3T>C splice site 0.00000826●●●●●●
116. 72492863 c.1441G>A p.A481T missense 0.00000826●●●●●●
117. 72499624 c.837-6C>T splice site 0.00000826●●●●●●
118. 72492839 c.1465C>T p.R489W missense 0.00000826●●●●●●
119. 72492881 c.1423A>G p.K475E missense 0.00000826●●●●●●
120. 72492842 c.1462C>T p.L488F missense 0.00000826●●●●●●
121. 72511286 c.153T>C p.I51I splice site 0.00000826●●●●●●
122. 72492847 c.1457T>C p.V486A missense 0.00000826●●●●●●
123. 72511300 c.139A>G p.I47V missense 0.00000825●●●●●●
124. 72511306 c.133_134delAC p.Thr45TrpfsTer21 frameshift 0.00000825●●●●●●
125. 72499612 c.843T>G p.D281E missense 0.00000825●●●●●●
126. 72502825 c.247-6C>T splice site 0.00000825●●●●●●
127. 72511344 c.95G>A p.R32H missense 0.00000824●●●●●●
128. 72509830 c.166C>T p.R56X nonsense 0.00000824●●●●●●
129. 72509824 c.172G>A p.V58M missense 0.00000824●●●●●●
130. 72502723 c.343A>G p.K115E missense 0.00000824●●●●●●
131. 72501082 c.716T>C p.M239T missense 0.00000824●●●●●●
132. 72501044 c.754C>A p.H252N missense 0.00000824●●●●●●
133. 72502204 c.379-4C>T splice site 0.00000824●●●●●●
134. 72502007 c.565+7A>G splice site 0.00000824●●●●●●
135. 72502113 c.466A>C p.I156L missense 0.00000824●●●●●●
136. 72499578 c.877G>T p.A293S missense 0.00000824●●●●●●
137. 72502182 c.397G>C p.E133Q missense 0.00000824●●●●●●
138. 72509800 c.196A>G p.K66E missense 0.00000824●●●●●●
139. 72501163 c.635C>G p.P212R missense 0.00000824●●●●●●
140. 72502822 c.247-3C>T splice site 0.00000824●●●●●●
141. 72500998 c.800T>C p.I267T missense 0.00000824●●●●●●
142. 72502761 c.305C>G p.P102R missense 0.00000824●●●●●●
143. 72502164 c.415A>G p.T139A missense 0.00000824●●●●●●
144. 72502139 c.440C>T p.A147V missense 0.00000824●●●●●●
145. 72500980 c.818A>C p.N273T missense 0.00000824●●●●●●
146. 72502018 c.561G>T p.Q187H missense 0.00000824●●●●●●
147. 72511345 c.94C>T p.R32C missense 0.00000824●●●●●●
148. 72499502 c.953A>G p.N318S missense 0.00000824●●●●●●
149. 72509776 c.220C>G p.L74V missense 0.00000824●●●●●●
150. 72501083 c.715A>C p.M239L missense 0.00000824●●●●●●
151. 72502205 c.379-5C>G splice site 0.00000824●●●●●●
152. 72499607 c.848T>A p.I283N missense 0.00000824●●●●●●
153. 72499551 c.904C>G p.P302A missense 0.00000824●●●●●●
154. 72502122 c.457G>A p.D153N missense 0.00000824●●●●●●
155. 72501059 c.739A>G p.K247E missense 0.00000824●●●●●●
156. 72502823 c.247-4C>A splice site 0.00000824●●●●●●
157. 72501030 c.768G>T p.K256N missense 0.00000824●●●●●●
158. 72502170 c.409G>A p.G137R missense 0.00000824●●●●●●
159. 72501061 c.737G>A p.R246H missense 0.00000824●●●●●●
160. 72502148 c.431T>C p.L144P missense 0.00000824●●●●●●
161. 72502095 c.484A>G p.K162E missense 0.00000824●●●●●●
162. 72511342 c.97C>A p.L33M missense 0.00000824●●●●●●
163. 72501094 c.704A>T p.Q235L missense 0.00000824●●●●●●
164. 72500965 c.833G>T p.R278L missense 0.00000824●●●●●●
165. 72509757 c.239C>T p.T80I missense 0.00000824●●●●●●
166. 72502009 c.565+5G>A splice site 0.00000824●●●●●●
167. 72501118 c.680A>G p.Q227R missense 0.00000824●●●●●●
168. 72502128 c.451A>G p.K151E missense 0.00000824●●●●●●
169. 72499465 c.987+3A>G splice site 0.00000824●●●●●●
170. 72509818 c.178A>T p.T60S missense 0.00000824●●●●●●
171. 72501038 c.760G>C p.V254L missense 0.00000824●●●●●●
172. 72502200 c.379A>T p.S127C missense 0.00000824●●●●●●
173. 72501073 c.725C>T p.A242V missense 0.00000824●●●●●●
174. 72502103 c.476T>C p.L159P missense 0.00000824●●●●●●
175. 72499554 c.901A>G p.I301V missense 0.00000824●●●●●●
176. 72499485 c.970G>A p.V324I missense 0.00000824●●●●●●
177. 72511398 c.41A>G p.Q14R missense 0.00000824●●●●●●
178. 72509829 c.167G>A p.R56Q missense 0.00000824●●●●●●
179. 72509776 c.220C>A p.L74M missense 0.00000824●●●●●●
180. 72509790 c.206T>A p.M69K missense 0.00000824●●●●●●
181. 72502777 c.289A>G p.S97G missense 0.00000824●●●●●●
182. 72502758 c.308T>G p.I103S missense 0.00000824●●●●●●
183. 72501119 c.679C>A p.Q227K 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.