SERPINE1 variants in ExAC

SERPINE1 gene summary
SERPINE1 variants in

The table below lists the SERPINE1 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. 100778878 c.1000+3_1000+5delAAG splice site 0.00014832●●●●●●
8. 100775300 c.650G>A p.G217D missense 0.00014083●●●●●●
9. 100777114 c.839A>G p.Q280R missense 0.00014009●●●●●●
10. 100777032 c.757G>A p.G253R missense 0.00011534●●●●●●
11. 100779023 c.1028C>T p.A343V missense 0.00009890●●●●●●
12. 100773852 c.422G>A p.R141Q missense 0.00009066●●●●●●
13. 100773851 c.421C>T p.R141W missense 0.00008242●●●●●●
14. 100775153 c.506-3T>C splice site 0.00008240●●●●●●
15. 100771748 c.74A>C p.H25P missense 0.00008240●●●●●●
16. 100777115 c.840G>C p.Q280H missense 0.00006592●●●●●●
17. 100775276 c.626G>A p.R209H missense 0.00005805●●●●●●
18. 100773725 c.295C>T p.R99W missense 0.00005797●●●●●●
19. 100773786 c.356C>T p.A119V missense 0.00005769●●●●●●
20. 100775299 c.649G>A p.G217S missense 0.00004970●●●●●●
21. 100771683 c.9G>A p.M3I missense 0.00004955●●●●●●
22. 100773899 c.469T>C p.F157L missense 0.00004953●●●●●●
23. 100771865 c.191C>T p.S64L missense 0.00004946●●●●●●
24. 100778864 c.989C>T p.T330M missense 0.00004944●●●●●●
25. 100773694 c.272-8C>T splice site 0.00004168●●●●●●
26. 100779017 c.1022C>T p.A341V missense 0.00004121●●●●●●
27. 100771858 c.184G>A p.V62M missense 0.00004121●●●●●●
28. 100771819 c.145G>A p.A49T missense 0.00004120●●●●●●
29. 100779013 c.1018G>A p.V340I missense 0.00004120●●●●●●
30. 100775174 c.524T>C p.L175P missense 0.00004120●●●●●●
31. 100776988 c.713C>T p.T238M missense 0.00004119●●●●●●
32. 100773917 c.487G>A p.V163M missense 0.00003310●●●●●●
33. 100775159 c.509T>C p.M170T missense 0.00003296●●●●●●
34. 100775176 c.526G>A p.G176R missense 0.00003296●●●●●●
35. 100773794 c.364G>A p.V122I missense 0.00003296●●●●●●
36. 100776993 c.718G>A p.D240N missense 0.00003295●●●●●●
37. 100775349 c.699T>C splice site 0.00002506●●●●●●
38. 100771940 c.266T>C p.I89T missense 0.00002495●●●●●●
39. 100773927 c.497A>T p.H166L missense 0.00002486●●●●●●
40. 100775278 c.628C>T p.R210C missense 0.00002485●●●●●●
41. 100775275 c.625C>T p.R209C missense 0.00002485●●●●●●
42. 100778797 c.922G>A p.D308N missense 0.00002479●●●●●●
43. 100775236 c.586G>A p.G196S missense 0.00002474●●●●●●
44. 100771711 c.37G>A p.G13S missense 0.00002474●●●●●●
45. 100773769 c.339G>C p.E113D missense 0.00002473●●●●●●
46. 100775203 c.553C>T p.R185W missense 0.00002473●●●●●●
47. 100777039 c.764C>A p.T255N missense 0.00002472●●●●●●
48. 100771831 c.157C>T p.R53C missense 0.00002472●●●●●●
49. 100777098 c.823A>C p.N275H missense 0.00002472●●●●●●
50. 100780360 c.1166C>T p.P389L missense 0.00002472●●●●●●
51. 100779016 c.1021G>A p.A341T missense 0.00002472●●●●●●
52. 100775354 c.700+4A>C splice site 0.00001672●●●●●●
53. 100771943 c.269A>G p.D90G missense 0.00001667●●●●●●
54. 100773708 c.278G>A p.G93D missense 0.00001663●●●●●●
55. 100773941 c.505+6C>T splice site 0.00001662●●●●●●
56. 100773726 c.296G>A p.R99Q missense 0.00001656●●●●●●
57. 0 c.-1-2A>T essential splice site 0.00001653●●●●●●
58. 100771894 c.220G>A p.G74R missense 0.00001651●●●●●●
59. 100775260 c.610G>A p.D204N missense 0.00001651●●●●●●
60. 100775252 c.602C>T p.P201L missense 0.00001650●●●●●●
61. 100773855 c.425G>A p.S142N missense 0.00001649●●●●●●
62. 100779052 c.1057G>A p.E353K missense 0.00001649●●●●●●
63. 100771877 c.203T>C p.M68T missense 0.00001649●●●●●●
64. 100780300 c.1106G>A p.R369H missense 0.00001648●●●●●●
65. 100776997 c.722G>A p.G241D missense 0.00001648●●●●●●
66. 100773843 c.413G>A p.R138K missense 0.00001648●●●●●●
67. 100777059 c.784G>A p.A262T missense 0.00001648●●●●●●
68. 100780323 c.1129A>G p.M377V missense 0.00001648●●●●●●
69. 100773829 c.399G>A p.M133I missense 0.00001648●●●●●●
70. 100773697 c.272-5T>G splice site 0.00000833●●●●●●
71. 100778771 c.900-4G>A splice site 0.00000833●●●●●●
72. 100771939 c.265A>G p.I89V missense 0.00000832●●●●●●
73. 100775333 c.683C>A p.T228N missense 0.00000832●●●●●●
74. 100771935 c.261C>A p.F87L missense 0.00000831●●●●●●
75. 100775327 c.677C>T p.A226V missense 0.00000831●●●●●●
76. 100773710 c.280A>C p.M94L missense 0.00000831●●●●●●
77. 100775329 c.679C>T p.Q227X nonsense 0.00000831●●●●●●
78. 100779092 c.1087+10G>C splice site 0.00000830●●●●●●
79. 100771931 c.257G>C p.G86A missense 0.00000830●●●●●●
80. 100775323 c.673A>G p.M225V missense 0.00000830●●●●●●
81. 100778785 c.910G>A p.E304K missense 0.00000829●●●●●●
82. 100775317 c.667C>T p.P223S missense 0.00000829●●●●●●
83. 100773921 c.491A>C p.K164T missense 0.00000828●●●●●●
84. 0 c.-1-1G>C essential splice site 0.00000827●●●●●●
85. 100771914 c.240G>C p.Q80H missense 0.00000827●●●●●●
86. 100775266 c.616A>G p.S206G missense 0.00000827●●●●●●
87. 0 c.-1-5T>C splice site 0.00000827●●●●●●
88. 100773738 c.308A>G p.K103R missense 0.00000826●●●●●●
89. 100773901 c.471C>G p.F157L missense 0.00000826●●●●●●
90. 100777167 c.892C>G p.L298V missense 0.00000826●●●●●●
91. 100771676 c.2T>C p.Met1? missense 0.00000826●●●●●●
92. 100773742 c.312G>T p.E104D missense 0.00000826●●●●●●
93. 100773734 c.304T>C p.Y102H missense 0.00000826●●●●●●
94. 100771897 c.223G>A p.G75R missense 0.00000826●●●●●●
95. 100778797 c.922G>C p.D308H missense 0.00000826●●●●●●
96. 100773737 c.307A>G p.K103E missense 0.00000826●●●●●●
97. 100771900 c.226G>A p.E76K missense 0.00000826●●●●●●
98. 100771879 c.205C>G p.L69V missense 0.00000825●●●●●●
99. 100777149 c.874C>G p.L292V missense 0.00000825●●●●●●
100. 100771884 c.210G>C p.Q70H missense 0.00000825●●●●●●
101. 100771700 c.26G>T p.C9F missense 0.00000825●●●●●●
102. 100777152 c.877C>T p.P293S missense 0.00000825●●●●●●
103. 100778812 c.937_938insT p.Glu314ArgfsTer15 frameshift 0.00000825●●●●●●
104. 100771889 c.215C>A p.T72K missense 0.00000825●●●●●●
105. 100777141 c.866T>C p.M289T missense 0.00000825●●●●●●
106. 100773883 c.453G>T p.E151D missense 0.00000825●●●●●●
107. 100777158 c.883C>T p.L295F missense 0.00000825●●●●●●
108. 100771891 c.217A>G p.T73A missense 0.00000825●●●●●●
109. 100780691 c.1177G>A p.V393I missense 0.00000824●●●●●●
110. 100780306 c.1112C>G p.A371G missense 0.00000824●●●●●●
111. 100779004 c.1009C>A p.P337T missense 0.00000824●●●●●●
112. 100771795 c.121A>G p.R41G missense 0.00000824●●●●●●
113. 100780681 c.1172-5C>T splice site 0.00000824●●●●●●
114. 100777109 c.834T>A p.S278R missense 0.00000824●●●●●●
115. 100778835 c.960C>A p.D320E missense 0.00000824●●●●●●
116. 100775168 c.518A>T p.N173I missense 0.00000824●●●●●●
117. 100771765 c.91G>T p.V31L missense 0.00000824●●●●●●
118. 100771745 c.71T>C p.V24A missense 0.00000824●●●●●●
119. 100773822 c.392G>C p.G131A missense 0.00000824●●●●●●
120. 100773788 c.358A>C p.I120L missense 0.00000824●●●●●●
121. 100778833 c.958G>A p.D320N missense 0.00000824●●●●●●
122. 100776988 c.713C>A p.T238K missense 0.00000824●●●●●●
123. 100778876 c.1000+1G>A essential splice site 0.00000824●●●●●●
124. 100775209 c.559G>C p.V187L missense 0.00000824●●●●●●
125. 100771813 c.139G>A p.A47T missense 0.00000824●●●●●●
126. 100780694 c.1180C>G p.L394V missense 0.00000824●●●●●●
127. 100780324 c.1130T>C p.M377T missense 0.00000824●●●●●●
128. 100773858 c.428C>T p.T143M missense 0.00000824●●●●●●
129. 100780373 c.1171+8T>C splice site 0.00000824●●●●●●
130. 100771867 c.193G>T p.V65L missense 0.00000824●●●●●●
131. 100780723 c.1209A>C p.X403C missense 0.00000824●●●●●●
132. 100775196 c.546delG p.Gln182HisfsTer2 frameshift 0.00000824●●●●●●
133. 100775186 c.536C>T p.A179V missense 0.00000824●●●●●●
134. 100771783 c.109G>A p.D37N missense 0.00000824●●●●●●
135. 100771754 c.80C>A p.P27H missense 0.00000824●●●●●●
136. 100780304 c.1110G>A p.M370I missense 0.00000824●●●●●●
137. 100773843 c.413G>T p.R138M missense 0.00000824●●●●●●
138. 100779043 c.1048G>A p.E350K missense 0.00000824●●●●●●
139. 100778841 c.966C>G p.F322L missense 0.00000824●●●●●●
140. 100773815 c.385G>A p.V129I missense 0.00000824●●●●●●
141. 100775209 c.559G>A p.V187M missense 0.00000824●●●●●●
142. 100771814 c.140C>T p.A47V missense 0.00000824●●●●●●
143. 100773872 c.442G>A p.D148N missense 0.00000824●●●●●●
144. 100780719 c.1205C>T p.P402L missense 0.00000824●●●●●●
145. 100780287 c.1093A>G p.I365V missense 0.00000824●●●●●●
146. 100778873 c.998C>T p.S333L missense 0.00000824●●●●●●
147. 100771868 c.194T>C p.V65A missense 0.00000824●●●●●●
148. 100771727 c.53T>C p.F18S missense 0.00000824●●●●●●
149. 100780687 c.1173A>G splice site 0.00000824●●●●●●
150. 100771757 c.83C>T p.P28L missense 0.00000824●●●●●●
151. 100773801 c.371G>A p.R124Q missense 0.00000824●●●●●●
152. 100775186 c.536C>G p.A179G missense 0.00000824●●●●●●
153. 100771796 c.122G>A p.R41K missense 0.00000824●●●●●●
154. 100780305 c.1111G>C p.A371P missense 0.00000824●●●●●●
155. 100777119 c.844A>G p.I282V missense 0.00000824●●●●●●
156. 100778997 c.1002C>A p.D334E missense 0.00000824●●●●●●
157. 100773777 c.347C>T p.T116I missense 0.00000824●●●●●●
158. 100780368 c.1171+3G>A splice site 0.00000824●●●●●●
159. 100771832 c.158G>A p.R53H missense 0.00000824●●●●●●
160. 100775225 c.575T>A p.L192H missense 0.00000824●●●●●●
161. 100771816 c.142C>T p.Q48X nonsense 0.00000824●●●●●●
162. 100779032 c.1037A>C p.K346T missense 0.00000824●●●●●●
163. 100773785 c.355G>A p.A119T missense 0.00000824●●●●●●
164. 100775177 c.527G>T p.G176V missense 0.00000824●●●●●●
165. 100780291 c.1097T>G p.V366G missense 0.00000824●●●●●●
166. 100773800 c.370C>T p.R124W missense 0.00000824●●●●●●
167. 100778883 c.1000+8G>A splice site 0.00000824●●●●●●
168. 100776994 c.719A>G p.D240G missense 0.00000824●●●●●●
169. 100780278 c.1088-4G>T splice site 0.00000824●●●●●●
170. 100778831 c.956delC p.Asp320ThrfsTer28 frameshift 0.00000824●●●●●●
171. 100775189 c.539T>C p.V180A missense 0.00000824●●●●●●
172. 100771798 c.124G>T p.V42L missense 0.00000824●●●●●●
173. 100777003 c.728A>G p.Y243C 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.