PSEN2 missense variants in ExAC

PSEN2 gene summary
PSEN2 variants in

The table below lists the PSEN2 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. 227071449 c.185G>A p.R62H missense 0.00989723●●●●●●
2. 227071475 c.211C>T p.R71W missense 0.00335725●●●●●●
3. 227073271 c.389C>T p.S130L missense 0.00064385●●●●●●
4. 227075813 c.520A>G p.M174V missense 0.00063428●●●●●●
5. 227069708 c.100G>A p.G34S missense 0.00047177●●●●●●
6. 227071426 c.162G>C p.E54D missense 0.00028323●●●●●●
7. 227076717 c.754G>A p.A252T missense 0.00025121●●●●●●
8. 227076744 c.781G>C p.V261L missense 0.00023088●●●●●●
9. 227071413 c.149A>G p.Q50R missense 0.00022046●●●●●●
10. 227083236 c.1303C>T p.R435W missense 0.00020689●●●●●●
11. 227076603 c.640G>T p.V214L missense 0.00018947●●●●●●
12. 227071430 c.166G>A p.G56S missense 0.00018284●●●●●●
13. 227071448 c.184C>T p.R62C missense 0.00016525●●●●●●
14. 227075798 c.505C>A p.H169N missense 0.00016475●●●●●●
15. 227081812 c.1177G>A p.V393M missense 0.00013235●●●●●●
16. 227076735 c.772G>A p.A258T missense 0.00011240●●●●●●
17. 227073297 c.415G>A p.V139M missense 0.00010789●●●●●●
18. 227083263 c.1330C>T p.H444Y missense 0.00010025●●●●●●
19. 227077825 c.877A>T p.I293L missense 0.00009884●●●●●●
20. 227071469 c.205C>G p.P69A missense 0.00009078●●●●●●
21. 227081774 c.1139C>A p.T380K missense 0.00007442●●●●●●
22. 227078994 c.902C>T p.T301M missense 0.00006023●●●●●●
23. 227081765 c.1130C>T p.A377V missense 0.00005796●●●●●●
24. 227081798 c.1163C>T p.T388M missense 0.00005788●●●●●●
25. 227076673 c.710C>T p.A237V missense 0.00005775●●●●●●
26. 227071472 c.208G>A p.G70R missense 0.00005775●●●●●●
27. 227078993 c.901A>T p.T301S missense 0.00005161●●●●●●
28. 227079474 c.1001C>G p.P334R missense 0.00004943●●●●●●
29. 227083237 c.1304G>A p.R435Q missense 0.00004529●●●●●●
30. 227076732 c.769G>A p.G257S missense 0.00004287●●●●●●
31. 227076718 c.755C>T p.A252V missense 0.00004195●●●●●●
32. 227081713 c.1078G>A p.V360M missense 0.00004125●●●●●●
33. 227083249 c.1316A>C p.D439A missense 0.00003764●●●●●●
34. 227083234 c.1301T>G p.V434G missense 0.00003576●●●●●●
35. 227079029 c.937G>A p.G313S missense 0.00003557●●●●●●
36. 227083222 c.1289C>T p.T430M missense 0.00003481●●●●●●
37. 227083195 c.1262C>T p.T421M missense 0.00003378●●●●●●
38. 227071593 c.329G>A p.R110H missense 0.00003316●●●●●●
39. 227069688 c.80C>T p.T27M missense 0.00003307●●●●●●
40. 227069657 c.49C>T p.R17W missense 0.00003297●●●●●●
41. 227083240 c.1307C>A p.P436Q missense 0.00002731●●●●●●
42. 227069694 c.86G>A p.R29H missense 0.00002482●●●●●●
43. 227069693 c.85C>T p.R29C missense 0.00002481●●●●●●
44. 227073370 c.488G>A p.R163H missense 0.00002480●●●●●●
45. 227069661 c.53C>T p.T18M missense 0.00002473●●●●●●
46. 227076555 c.592G>T p.A198S missense 0.00002472●●●●●●
47. 227079465 c.992T>C p.F331S missense 0.00002471●●●●●●
48. 227079050 c.958G>A p.D320N missense 0.00002016●●●●●●
49. 227079048 c.956A>G p.Y319C missense 0.00001980●●●●●●
50. 227083240 c.1307C>T p.P436L missense 0.00001820●●●●●●
51. 227069742 c.134C>T p.A45V missense 0.00001676●●●●●●
52. 227073265 c.383C>T p.T128I missense 0.00001676●●●●●●
53. 227083168 c.1235C>T p.A412V missense 0.00001672●●●●●●
54. 227073281 c.399G>C p.Q133H missense 0.00001667●●●●●●
55. 227073283 c.401G>A p.R134H missense 0.00001666●●●●●●
56. 227073301 c.419T>C p.L140P missense 0.00001658●●●●●●
57. 227073306 c.424A>T p.T142S missense 0.00001657●●●●●●
58. 227069691 c.83C>T p.P28L missense 0.00001654●●●●●●
59. 227073342 c.460A>G p.I154V missense 0.00001653●●●●●●
60. 227081791 c.1156A>C p.N386H missense 0.00001653●●●●●●
61. 227069685 c.77C>T p.P26L missense 0.00001653●●●●●●
62. 227069678 c.70G>A p.E24K missense 0.00001652●●●●●●
63. 227071458 c.194G>A p.C65Y missense 0.00001651●●●●●●
64. 227071469 c.205C>A p.P69T missense 0.00001650●●●●●●
65. 227071469 c.205C>T p.P69S missense 0.00001650●●●●●●
66. 227076675 c.712C>T p.L238F missense 0.00001650●●●●●●
67. 227069634 c.26G>A p.S9N missense 0.00001649●●●●●●
68. 227071500 c.236T>C p.L79P missense 0.00001649●●●●●●
69. 227079473 c.1000C>A p.P334T missense 0.00001648●●●●●●
70. 227076646 c.683A>T p.Q228L missense 0.00001648●●●●●●
71. 227076552 c.589G>A p.V197M missense 0.00001648●●●●●●
72. 227076568 c.605C>T p.P202L missense 0.00001648●●●●●●
73. 227075847 c.554A>G p.Y185C missense 0.00001648●●●●●●
74. 227079518 c.1045G>A p.G349R missense 0.00001648●●●●●●
75. 227075822 c.529C>G p.L177V missense 0.00001647●●●●●●
76. 227079057 c.965A>G p.E322G missense 0.00001076●●●●●●
77. 227083275 c.1342A>G p.I448V missense 0.00001062●●●●●●
78. 227079050 c.958G>C p.D320H missense 0.00001008●●●●●●
79. 227083227 c.1294A>C p.N432H missense 0.00000879●●●●●●
80. 227083226 c.1293C>A p.D431E missense 0.00000879●●●●●●
81. 227079020 c.928T>C p.S310P missense 0.00000875●●●●●●
82. 227079006 c.914C>A p.A305E missense 0.00000863●●●●●●
83. 227079006 c.914C>T p.A305V missense 0.00000863●●●●●●
84. 227076733 c.770G>T p.G257V missense 0.00000859●●●●●●
85. 227083212 c.1279T>C p.Y427H missense 0.00000857●●●●●●
86. 227073247 c.365C>T p.T122M missense 0.00000850●●●●●●
87. 227083199 c.1266C>G p.F422L missense 0.00000846●●●●●●
88. 227076723 c.760G>A p.V254I missense 0.00000845●●●●●●
89. 227071418 c.154A>G p.N52D missense 0.00000842●●●●●●
90. 227076718 c.755C>G p.A252G missense 0.00000839●●●●●●
91. 227083173 c.1240C>T p.P414S missense 0.00000837●●●●●●
92. 227083162 c.1229A>G p.K410R missense 0.00000835●●●●●●
93. 227083165 c.1232A>G p.K411R missense 0.00000835●●●●●●
94. 227083153 c.1220C>A p.A407D missense 0.00000834●●●●●●
95. 227083138 c.1205C>T p.T402I missense 0.00000834●●●●●●
96. 227083141 c.1208T>A p.L403H missense 0.00000834●●●●●●
97. 227073283 c.401G>T p.R134L missense 0.00000833●●●●●●
98. 227073292 c.410A>G p.N137S missense 0.00000831●●●●●●
99. 227073297 c.415G>T p.V139L missense 0.00000830●●●●●●
100. 227071593 c.329G>T p.R110L missense 0.00000829●●●●●●
101. 227076702 c.739C>T p.L247F missense 0.00000829●●●●●●
102. 227069702 c.94C>G p.Q32E missense 0.00000828●●●●●●
103. 227073312 c.430A>C p.I144L missense 0.00000828●●●●●●
104. 227076699 c.736T>C p.Y246H missense 0.00000828●●●●●●
105. 227081824 c.1189A>C p.I397L missense 0.00000828●●●●●●
106. 227071587 c.323C>G p.S108C missense 0.00000828●●●●●●
107. 227081783 c.1148G>A p.G383E missense 0.00000827●●●●●●
108. 227069687 c.79A>G p.T27A missense 0.00000827●●●●●●
109. 227069690 c.82C>A p.P28T missense 0.00000827●●●●●●
110. 227073351 c.469G>A p.V157M missense 0.00000827●●●●●●
111. 227073321 c.439A>G p.S147G missense 0.00000827●●●●●●
112. 227073351 c.469G>T p.V157L missense 0.00000827●●●●●●
113. 227069697 c.89C>T p.S30F missense 0.00000827●●●●●●
114. 227073364 c.482A>G p.K161R missense 0.00000827●●●●●●
115. 227073349 c.467T>G p.L156W missense 0.00000827●●●●●●
116. 227071556 c.292T>C p.C98R missense 0.00000826●●●●●●
117. 227081756 c.1121T>C p.V374A missense 0.00000826●●●●●●
118. 227071460 c.196A>T p.S66C missense 0.00000826●●●●●●
119. 227071560 c.296T>C p.M99T missense 0.00000826●●●●●●
120. 227081788 c.1153T>A p.W385R missense 0.00000826●●●●●●
121. 227071461 c.197G>A p.S66N missense 0.00000826●●●●●●
122. 227076692 c.729C>G p.F243L missense 0.00000826●●●●●●
123. 227071482 c.218C>G p.P73R missense 0.00000825●●●●●●
124. 227076681 c.718G>T p.A240S missense 0.00000825●●●●●●
125. 227071476 c.212G>T p.R71L missense 0.00000825●●●●●●
126. 227081711 c.1076G>C p.G359A missense 0.00000825●●●●●●
127. 227071467 c.203T>C p.V68A missense 0.00000825●●●●●●
128. 227071470 c.206C>G p.P69R missense 0.00000825●●●●●●
129. 227071476 c.212G>A p.R71Q missense 0.00000825●●●●●●
130. 227071526 c.262G>C p.V88L missense 0.00000825●●●●●●
131. 227071518 c.254C>T p.A85V missense 0.00000825●●●●●●
132. 227076662 c.699C>G p.I233M missense 0.00000824●●●●●●
133. 227069644 c.36A>T p.E12D missense 0.00000824●●●●●●
134. 227075817 c.524C>G p.S175C missense 0.00000824●●●●●●
135. 227077789 c.841G>T p.A281S missense 0.00000824●●●●●●
136. 227076596 c.633C>A p.F211L missense 0.00000824●●●●●●
137. 227079485 c.1012G>A p.E338K missense 0.00000824●●●●●●
138. 227079525 c.1052A>G p.E351G missense 0.00000824●●●●●●
139. 227069646 c.38T>G p.V13G missense 0.00000824●●●●●●
140. 227077802 c.854A>G p.N285S missense 0.00000824●●●●●●
141. 227076550 c.587A>G p.N196S missense 0.00000824●●●●●●
142. 227075859 c.566G>C p.G189A missense 0.00000824●●●●●●
143. 227079497 c.1024C>T p.P342S missense 0.00000824●●●●●●
144. 227077822 c.874C>G p.L292V missense 0.00000824●●●●●●
145. 227076603 c.640G>A p.V214M missense 0.00000824●●●●●●
146. 227079473 c.1000C>G p.P334A missense 0.00000824●●●●●●
147. 227077820 c.872C>T p.A291V missense 0.00000824●●●●●●
148. 227077762 c.814G>A p.G272R missense 0.00000824●●●●●●
149. 227076558 c.595A>C p.M199L missense 0.00000824●●●●●●
150. 227076655 c.692A>G p.Y231C missense 0.00000824●●●●●●
151. 227079515 c.1042C>G p.P348A missense 0.00000824●●●●●●
152. 227071515 c.251G>A p.G84E missense 0.00000824●●●●●●
153. 227076597 c.634G>A p.G212R missense 0.00000824●●●●●●
154. 227077828 c.880T>C p.Y294H missense 0.00000824●●●●●●
155. 227076637 c.674T>C p.L225P missense 0.00000824●●●●●●
156. 227069610 c.2T>C p.Met1? missense 0.00000824●●●●●●
157. 227079470 c.997G>C p.E333Q missense 0.00000824●●●●●●
158. 227077765 c.817C>A p.P273T missense 0.00000824●●●●●●
159. 227076553 c.590T>A p.V197E missense 0.00000824●●●●●●
160. 227077741 c.793G>A p.V265M 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.