SERPINE1 missense variants in ExAC

SERPINE1 gene summary
SERPINE1 variants in

The table below lists the SERPINE1 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. 100771717 c.43G>A p.A15T missense 0.09639170●●●●●●
2. 100771723 c.49G>A p.V17I missense 0.02710744●●●●●●
3. 100771765 c.91G>A p.V31M missense 0.00058499●●●●●●
4. 100775345 c.695A>G p.N232S missense 0.00031686●●●●●●
5. 100775188 c.538G>A p.V180M missense 0.00029663●●●●●●
6. 100775270 c.620C>T p.T207I missense 0.00017401●●●●●●
7. 100775300 c.650G>A p.G217D missense 0.00014083●●●●●●
8. 100777114 c.839A>G p.Q280R missense 0.00014009●●●●●●
9. 100777032 c.757G>A p.G253R missense 0.00011534●●●●●●
10. 100779023 c.1028C>T p.A343V missense 0.00009890●●●●●●
11. 100773852 c.422G>A p.R141Q missense 0.00009066●●●●●●
12. 100773851 c.421C>T p.R141W missense 0.00008242●●●●●●
13. 100771748 c.74A>C p.H25P missense 0.00008240●●●●●●
14. 100777115 c.840G>C p.Q280H missense 0.00006592●●●●●●
15. 100775276 c.626G>A p.R209H missense 0.00005805●●●●●●
16. 100773725 c.295C>T p.R99W missense 0.00005797●●●●●●
17. 100773786 c.356C>T p.A119V missense 0.00005769●●●●●●
18. 100775299 c.649G>A p.G217S missense 0.00004970●●●●●●
19. 100771683 c.9G>A p.M3I missense 0.00004955●●●●●●
20. 100773899 c.469T>C p.F157L missense 0.00004953●●●●●●
21. 100771865 c.191C>T p.S64L missense 0.00004946●●●●●●
22. 100778864 c.989C>T p.T330M missense 0.00004944●●●●●●
23. 100779017 c.1022C>T p.A341V missense 0.00004121●●●●●●
24. 100771858 c.184G>A p.V62M missense 0.00004121●●●●●●
25. 100775174 c.524T>C p.L175P missense 0.00004120●●●●●●
26. 100771819 c.145G>A p.A49T missense 0.00004120●●●●●●
27. 100779013 c.1018G>A p.V340I missense 0.00004120●●●●●●
28. 100776988 c.713C>T p.T238M missense 0.00004119●●●●●●
29. 100773917 c.487G>A p.V163M missense 0.00003310●●●●●●
30. 100773794 c.364G>A p.V122I missense 0.00003296●●●●●●
31. 100775176 c.526G>A p.G176R missense 0.00003296●●●●●●
32. 100775159 c.509T>C p.M170T missense 0.00003296●●●●●●
33. 100776993 c.718G>A p.D240N missense 0.00003295●●●●●●
34. 100771940 c.266T>C p.I89T missense 0.00002495●●●●●●
35. 100773927 c.497A>T p.H166L missense 0.00002486●●●●●●
36. 100775278 c.628C>T p.R210C missense 0.00002485●●●●●●
37. 100775275 c.625C>T p.R209C missense 0.00002485●●●●●●
38. 100778797 c.922G>A p.D308N missense 0.00002479●●●●●●
39. 100771711 c.37G>A p.G13S missense 0.00002474●●●●●●
40. 100775236 c.586G>A p.G196S missense 0.00002474●●●●●●
41. 100773769 c.339G>C p.E113D missense 0.00002473●●●●●●
42. 100775203 c.553C>T p.R185W missense 0.00002473●●●●●●
43. 100780360 c.1166C>T p.P389L missense 0.00002472●●●●●●
44. 100779016 c.1021G>A p.A341T missense 0.00002472●●●●●●
45. 100777098 c.823A>C p.N275H missense 0.00002472●●●●●●
46. 100771831 c.157C>T p.R53C missense 0.00002472●●●●●●
47. 100777039 c.764C>A p.T255N missense 0.00002472●●●●●●
48. 100771943 c.269A>G p.D90G missense 0.00001667●●●●●●
49. 100773708 c.278G>A p.G93D missense 0.00001663●●●●●●
50. 100773726 c.296G>A p.R99Q missense 0.00001656●●●●●●
51. 100775260 c.610G>A p.D204N missense 0.00001651●●●●●●
52. 100771894 c.220G>A p.G74R missense 0.00001651●●●●●●
53. 100775252 c.602C>T p.P201L missense 0.00001650●●●●●●
54. 100771877 c.203T>C p.M68T missense 0.00001649●●●●●●
55. 100773855 c.425G>A p.S142N missense 0.00001649●●●●●●
56. 100779052 c.1057G>A p.E353K missense 0.00001649●●●●●●
57. 100773843 c.413G>A p.R138K missense 0.00001648●●●●●●
58. 100777059 c.784G>A p.A262T missense 0.00001648●●●●●●
59. 100780300 c.1106G>A p.R369H missense 0.00001648●●●●●●
60. 100773829 c.399G>A p.M133I missense 0.00001648●●●●●●
61. 100780323 c.1129A>G p.M377V missense 0.00001648●●●●●●
62. 100776997 c.722G>A p.G241D missense 0.00001648●●●●●●
63. 100775333 c.683C>A p.T228N missense 0.00000832●●●●●●
64. 100771939 c.265A>G p.I89V missense 0.00000832●●●●●●
65. 100773710 c.280A>C p.M94L missense 0.00000831●●●●●●
66. 100775327 c.677C>T p.A226V missense 0.00000831●●●●●●
67. 100771935 c.261C>A p.F87L missense 0.00000831●●●●●●
68. 100775323 c.673A>G p.M225V missense 0.00000830●●●●●●
69. 100771931 c.257G>C p.G86A missense 0.00000830●●●●●●
70. 100775317 c.667C>T p.P223S missense 0.00000829●●●●●●
71. 100778785 c.910G>A p.E304K missense 0.00000829●●●●●●
72. 100773921 c.491A>C p.K164T missense 0.00000828●●●●●●
73. 100771914 c.240G>C p.Q80H missense 0.00000827●●●●●●
74. 100775266 c.616A>G p.S206G missense 0.00000827●●●●●●
75. 100771900 c.226G>A p.E76K missense 0.00000826●●●●●●
76. 100773734 c.304T>C p.Y102H missense 0.00000826●●●●●●
77. 100773901 c.471C>G p.F157L missense 0.00000826●●●●●●
78. 100778797 c.922G>C p.D308H missense 0.00000826●●●●●●
79. 100773737 c.307A>G p.K103E missense 0.00000826●●●●●●
80. 100771676 c.2T>C p.Met1? missense 0.00000826●●●●●●
81. 100773738 c.308A>G p.K103R missense 0.00000826●●●●●●
82. 100771897 c.223G>A p.G75R missense 0.00000826●●●●●●
83. 100773742 c.312G>T p.E104D missense 0.00000826●●●●●●
84. 100777167 c.892C>G p.L298V missense 0.00000826●●●●●●
85. 100771889 c.215C>A p.T72K missense 0.00000825●●●●●●
86. 100777152 c.877C>T p.P293S missense 0.00000825●●●●●●
87. 100771879 c.205C>G p.L69V missense 0.00000825●●●●●●
88. 100777141 c.866T>C p.M289T missense 0.00000825●●●●●●
89. 100777158 c.883C>T p.L295F missense 0.00000825●●●●●●
90. 100771700 c.26G>T p.C9F missense 0.00000825●●●●●●
91. 100771884 c.210G>C p.Q70H missense 0.00000825●●●●●●
92. 100771891 c.217A>G p.T73A missense 0.00000825●●●●●●
93. 100773883 c.453G>T p.E151D missense 0.00000825●●●●●●
94. 100777149 c.874C>G p.L292V missense 0.00000825●●●●●●
95. 100776988 c.713C>A p.T238K missense 0.00000824●●●●●●
96. 100780305 c.1111G>C p.A371P missense 0.00000824●●●●●●
97. 100773843 c.413G>T p.R138M missense 0.00000824●●●●●●
98. 100775168 c.518A>T p.N173I missense 0.00000824●●●●●●
99. 100771832 c.158G>A p.R53H missense 0.00000824●●●●●●
100. 100771813 c.139G>A p.A47T missense 0.00000824●●●●●●
101. 100771745 c.71T>C p.V24A missense 0.00000824●●●●●●
102. 100778873 c.998C>T p.S333L missense 0.00000824●●●●●●
103. 100778841 c.966C>G p.F322L missense 0.00000824●●●●●●
104. 100771814 c.140C>T p.A47V missense 0.00000824●●●●●●
105. 100780291 c.1097T>G p.V366G missense 0.00000824●●●●●●
106. 100771783 c.109G>A p.D37N missense 0.00000824●●●●●●
107. 100773777 c.347C>T p.T116I missense 0.00000824●●●●●●
108. 100777119 c.844A>G p.I282V missense 0.00000824●●●●●●
109. 100773801 c.371G>A p.R124Q missense 0.00000824●●●●●●
110. 100780691 c.1177G>A p.V393I missense 0.00000824●●●●●●
111. 100780306 c.1112C>G p.A371G missense 0.00000824●●●●●●
112. 100775209 c.559G>C p.V187L missense 0.00000824●●●●●●
113. 100775186 c.536C>T p.A179V missense 0.00000824●●●●●●
114. 100779032 c.1037A>C p.K346T missense 0.00000824●●●●●●
115. 100771754 c.80C>A p.P27H missense 0.00000824●●●●●●
116. 100778997 c.1002C>A p.D334E missense 0.00000824●●●●●●
117. 100773800 c.370C>T p.R124W missense 0.00000824●●●●●●
118. 100773815 c.385G>A p.V129I missense 0.00000824●●●●●●
119. 100771796 c.122G>A p.R41K missense 0.00000824●●●●●●
120. 100771795 c.121A>G p.R41G missense 0.00000824●●●●●●
121. 100776994 c.719A>G p.D240G missense 0.00000824●●●●●●
122. 100775177 c.527G>T p.G176V missense 0.00000824●●●●●●
123. 100775186 c.536C>G p.A179G missense 0.00000824●●●●●●
124. 100771867 c.193G>T p.V65L missense 0.00000824●●●●●●
125. 100780694 c.1180C>G p.L394V missense 0.00000824●●●●●●
126. 100775209 c.559G>A p.V187M missense 0.00000824●●●●●●
127. 100773785 c.355G>A p.A119T missense 0.00000824●●●●●●
128. 100773872 c.442G>A p.D148N missense 0.00000824●●●●●●
129. 100777003 c.728A>G p.Y243C missense 0.00000824●●●●●●
130. 100771727 c.53T>C p.F18S missense 0.00000824●●●●●●
131. 100771757 c.83C>T p.P28L missense 0.00000824●●●●●●
132. 100779043 c.1048G>A p.E350K missense 0.00000824●●●●●●
133. 100779004 c.1009C>A p.P337T missense 0.00000824●●●●●●
134. 100777109 c.834T>A p.S278R missense 0.00000824●●●●●●
135. 100780304 c.1110G>A p.M370I missense 0.00000824●●●●●●
136. 100773822 c.392G>C p.G131A missense 0.00000824●●●●●●
137. 100778835 c.960C>A p.D320E missense 0.00000824●●●●●●
138. 100780324 c.1130T>C p.M377T missense 0.00000824●●●●●●
139. 100771798 c.124G>T p.V42L missense 0.00000824●●●●●●
140. 100778833 c.958G>A p.D320N missense 0.00000824●●●●●●
141. 100775225 c.575T>A p.L192H missense 0.00000824●●●●●●
142. 100773858 c.428C>T p.T143M missense 0.00000824●●●●●●
143. 100775189 c.539T>C p.V180A missense 0.00000824●●●●●●
144. 100771868 c.194T>C p.V65A missense 0.00000824●●●●●●
145. 100780723 c.1209A>C p.X403C missense 0.00000824●●●●●●
146. 100780719 c.1205C>T p.P402L missense 0.00000824●●●●●●
147. 100780287 c.1093A>G p.I365V missense 0.00000824●●●●●●
148. 100773788 c.358A>C p.I120L missense 0.00000824●●●●●●
149. 100771765 c.91G>T p.V31L 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.