PKM missense variants in ExAC

PKM gene summary
PKM variants in

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