CYP7A1 missense variants in ExAC

CYP7A1 gene summary
CYP7A1 variants in

The table below lists the CYP7A1 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. 59404935 c.1192C>G p.P398A missense 0.00324520●●●●●●
2. 59407065 c.1039G>A p.D347N missense 0.00281727●●●●●●
3. 59412620 c.38C>T p.A13V missense 0.00197749●●●●●●
4. 59409373 c.698A>G p.N233S missense 0.00104606●●●●●●
5. 59410853 c.256C>A p.H86N missense 0.00103806●●●●●●
6. 59409292 c.779G>T p.R260L missense 0.00042006●●●●●●
7. 59411001 c.108T>A p.N36K missense 0.00038716●●●●●●
8. 59409493 c.578C>T p.T193I missense 0.00028004●●●●●●
9. 59404998 c.1129G>A p.G377S missense 0.00025534●●●●●●
10. 59404140 c.1409T>C p.I470T missense 0.00018148●●●●●●
11. 59405036 c.1091G>A p.R364Q missense 0.00017298●●●●●●
12. 59407161 c.943G>A p.V315M missense 0.00016476●●●●●●
13. 59404257 c.1292A>G p.K431R missense 0.00014839●●●●●●
14. 59404300 c.1249G>A p.G417R missense 0.00013210●●●●●●
15. 59405008 c.1119C>G p.H373Q missense 0.00009884●●●●●●
16. 59404192 c.1357G>A p.E453K missense 0.00009075●●●●●●
17. 59409379 c.692C>T p.A231V missense 0.00009060●●●●●●
18. 59407167 c.937G>A p.E313K missense 0.00007414●●●●●●
19. 59410885 c.224A>G p.Y75C missense 0.00007413●●●●●●
20. 59409527 c.544G>T p.A182S missense 0.00006589●●●●●●
21. 59404101 c.1448G>C p.R483P missense 0.00005791●●●●●●
22. 59410952 c.157C>T p.L53F missense 0.00005766●●●●●●
23. 59409736 c.335G>A p.R112K missense 0.00005037●●●●●●
24. 59404303 c.1246A>G p.N416D missense 0.00004955●●●●●●
25. 59410813 c.296A>C p.K99T missense 0.00004950●●●●●●
26. 59411023 c.86C>T p.T29M missense 0.00004943●●●●●●
27. 59404080 c.1469C>T p.P490L missense 0.00004163●●●●●●
28. 59404245 c.1304T>C p.M435T missense 0.00004122●●●●●●
29. 59404071 c.1478A>G p.N493S missense 0.00003351●●●●●●
30. 59410788 c.321G>T p.K107N missense 0.00003305●●●●●●
31. 59409560 c.511A>T p.M171L missense 0.00003296●●●●●●
32. 59409328 c.743A>T p.Q248L missense 0.00003295●●●●●●
33. 59404952 c.1175A>G p.Q392R missense 0.00003295●●●●●●
34. 59404985 c.1142T>G p.I381S missense 0.00003295●●●●●●
35. 59404065 c.1484T>C p.I495T missense 0.00002534●●●●●●
36. 59409601 c.470T>C p.V157A missense 0.00002482●●●●●●
37. 59404101 c.1448G>A p.R483Q missense 0.00002482●●●●●●
38. 59404102 c.1447C>T p.R483W missense 0.00002481●●●●●●
39. 59404206 c.1343T>G p.L448W missense 0.00002473●●●●●●
40. 59404256 c.1293G>T p.K431N missense 0.00002473●●●●●●
41. 59404230 c.1319G>A p.G440E missense 0.00002473●●●●●●
42. 59412606 c.52C>G p.L18V missense 0.00002472●●●●●●
43. 59404968 c.1159A>G p.I387V missense 0.00002471●●●●●●
44. 59410877 c.232T>A p.F78I missense 0.00002471●●●●●●
45. 59409503 c.568A>G p.R190G missense 0.00002471●●●●●●
46. 59409724 c.347C>T p.P116L missense 0.00001678●●●●●●
47. 59409646 c.425C>A p.T142K missense 0.00001666●●●●●●
48. 59404080 c.1469C>G p.P490R missense 0.00001665●●●●●●
49. 59409626 c.445C>A p.L149I missense 0.00001660●●●●●●
50. 59409169 c.902T>C p.M301T missense 0.00001654●●●●●●
51. 59405069 c.1058C>T p.S353L missense 0.00001651●●●●●●
52. 59404248 c.1301A>T p.Y434F missense 0.00001649●●●●●●
53. 59404175 c.1374G>T p.L458F missense 0.00001649●●●●●●
54. 59409187 c.884T>C p.F295S missense 0.00001649●●●●●●
55. 59411021 c.88G>A p.G30S missense 0.00001648●●●●●●
56. 59412611 c.47G>A p.C16Y missense 0.00001648●●●●●●
57. 59410835 c.274G>A p.G92R missense 0.00001648●●●●●●
58. 59409488 c.583C>T p.R195W missense 0.00001647●●●●●●
59. 59409245 c.826G>C p.A276P missense 0.00001647●●●●●●
60. 59404945 c.1182G>T p.M394I missense 0.00001647●●●●●●
61. 59409356 c.715G>A p.A239T missense 0.00001647●●●●●●
62. 59410949 c.160G>C p.E54Q missense 0.00001647●●●●●●
63. 59409322 c.749G>T p.R250M missense 0.00001647●●●●●●
64. 59404965 c.1162G>A p.A388T missense 0.00001647●●●●●●
65. 59409214 c.857C>T p.S286L missense 0.00001647●●●●●●
66. 59409452 c.619G>C p.D207H missense 0.00001647●●●●●●
67. 59409499 c.572A>G p.D191G missense 0.00001647●●●●●●
68. 59404912 c.1215G>C p.L405F missense 0.00001647●●●●●●
69. 59409367 c.704G>A p.R235Q missense 0.00001647●●●●●●
70. 59409220 c.851G>T p.W284L missense 0.00001647●●●●●●
71. 59405037 c.1090C>T p.R364W missense 0.00001647●●●●●●
72. 59407109 c.995C>T p.P332L missense 0.00001647●●●●●●
73. 59404055 c.1494A>T p.K498N missense 0.00000854●●●●●●
74. 59409721 c.350T>C p.M117T missense 0.00000839●●●●●●
75. 59409730 c.341T>C p.I114T missense 0.00000839●●●●●●
76. 59409733 c.338G>A p.S113N missense 0.00000839●●●●●●
77. 59409683 c.388A>T p.I130F missense 0.00000837●●●●●●
78. 59409683 c.388A>G p.I130V missense 0.00000837●●●●●●
79. 59409667 c.404G>A p.G135D missense 0.00000835●●●●●●
80. 59409658 c.413T>C p.L138S missense 0.00000834●●●●●●
81. 59409646 c.425C>T p.T142M missense 0.00000833●●●●●●
82. 59404332 c.1217C>T p.T406I missense 0.00000832●●●●●●
83. 59409634 c.437T>C p.M146T missense 0.00000831●●●●●●
84. 59405079 c.1048A>G p.I350V missense 0.00000830●●●●●●
85. 59404321 c.1228G>C p.D410H missense 0.00000829●●●●●●
86. 59404090 c.1459G>A p.G487S missense 0.00000829●●●●●●
87. 59404098 c.1451C>T p.A484V missense 0.00000828●●●●●●
88. 59409163 c.908G>A p.R303K missense 0.00000828●●●●●●
89. 59409591 c.480C>A p.N160K missense 0.00000827●●●●●●
90. 59404101 c.1448G>T p.R483L missense 0.00000827●●●●●●
91. 59404109 c.1440C>A p.D480E missense 0.00000826●●●●●●
92. 59410789 c.320A>C p.K107T missense 0.00000826●●●●●●
93. 59404108 c.1441C>G p.Q481E missense 0.00000826●●●●●●
94. 59410796 c.313T>G p.S105A missense 0.00000826●●●●●●
95. 59404284 c.1265C>T p.T422I missense 0.00000825●●●●●●
96. 59410813 c.296A>T p.K99I missense 0.00000825●●●●●●
97. 59409182 c.889A>T p.S297C missense 0.00000825●●●●●●
98. 59404293 c.1256C>A p.T419K missense 0.00000825●●●●●●
99. 59410810 c.299T>G p.F100C missense 0.00000825●●●●●●
100. 59409183 c.888G>C p.W296C missense 0.00000825●●●●●●
101. 59404128 c.1421C>T p.A474V missense 0.00000825●●●●●●
102. 59404191 c.1358A>G p.E453G missense 0.00000825●●●●●●
103. 59410822 c.287A>C p.D96A missense 0.00000825●●●●●●
104. 59404135 c.1414G>A p.G472S missense 0.00000825●●●●●●
105. 59410811 c.298T>A p.F100I missense 0.00000825●●●●●●
106. 59409292 c.779G>A p.R260H missense 0.00000824●●●●●●
107. 59404959 c.1168T>C p.Y390H missense 0.00000824●●●●●●
108. 59404222 c.1327A>G p.I443V missense 0.00000824●●●●●●
109. 59412621 c.37G>A p.A13T missense 0.00000824●●●●●●
110. 59410936 c.173C>T p.A58V missense 0.00000824●●●●●●
111. 59409337 c.734A>C p.E245A missense 0.00000824●●●●●●
112. 59404222 c.1327A>C p.I443L missense 0.00000824●●●●●●
113. 59407187 c.917A>C p.E306A missense 0.00000824●●●●●●
114. 59405055 c.1072A>G p.S358G missense 0.00000824●●●●●●
115. 59405001 c.1126G>A p.D376N missense 0.00000824●●●●●●
116. 59410855 c.254A>G p.Y85C missense 0.00000824●●●●●●
117. 59409541 c.530G>A p.R177Q missense 0.00000824●●●●●●
118. 59409512 c.559A>G p.I187V missense 0.00000824●●●●●●
119. 59411015 c.94C>A p.P32T missense 0.00000824●●●●●●
120. 59409433 c.638A>G p.D213G missense 0.00000824●●●●●●
121. 59409487 c.584G>A p.R195Q missense 0.00000824●●●●●●
122. 59411027 c.82C>A p.Q28K missense 0.00000824●●●●●●
123. 59409437 c.634T>A p.F212I missense 0.00000824●●●●●●
124. 59410916 c.193C>T p.H65Y missense 0.00000824●●●●●●
125. 59409200 c.871A>G p.I291V missense 0.00000824●●●●●●
126. 59407074 c.1030C>A p.P344T missense 0.00000824●●●●●●
127. 59404971 c.1156A>T p.I386F missense 0.00000824●●●●●●
128. 59409314 c.757A>G p.I253V missense 0.00000824●●●●●●
129. 59412626 c.32C>T p.A11V missense 0.00000824●●●●●●
130. 59409497 c.574C>A p.L192I missense 0.00000824●●●●●●
131. 59410947 c.162G>C p.E54D missense 0.00000824●●●●●●
132. 59409377 c.694C>T p.H232Y missense 0.00000824●●●●●●
133. 59404233 c.1316C>T p.S439L missense 0.00000824●●●●●●
134. 59404208 c.1341A>T p.R447S missense 0.00000824●●●●●●
135. 59404165 c.1384C>G p.L462V missense 0.00000824●●●●●●
136. 59407190 c.914C>T p.P305L missense 0.00000824●●●●●●
137. 59405020 c.1107T>G p.D369E missense 0.00000824●●●●●●
138. 59412633 c.25G>A p.G9R missense 0.00000824●●●●●●
139. 59404952 c.1175A>T p.Q392L missense 0.00000824●●●●●●
140. 59412578 c.80G>T p.R27M missense 0.00000824●●●●●●
141. 59409469 c.602A>G p.H201R missense 0.00000824●●●●●●
142. 59409434 c.637G>A p.D213N missense 0.00000824●●●●●●
143. 59404249 c.1300T>C p.Y434H missense 0.00000824●●●●●●
144. 59409490 c.581G>A p.R194K missense 0.00000824●●●●●●
145. 59410879 c.230A>T p.H77L missense 0.00000824●●●●●●
146. 59407099 c.1005G>C p.L335F missense 0.00000824●●●●●●
147. 59410922 c.187C>A p.H63N missense 0.00000824●●●●●●
148. 59409253 c.818T>C p.L273P missense 0.00000824●●●●●●
149. 59407121 c.983T>C p.L328S missense 0.00000824●●●●●●
150. 59404913 c.1214T>G p.L405W missense 0.00000824●●●●●●
151. 59404982 c.1145G>A p.R382Q missense 0.00000824●●●●●●
152. 59409265 c.806C>T p.T269I missense 0.00000824●●●●●●
153. 59412630 c.28A>G p.I10V missense 0.00000824●●●●●●
154. 59404215 c.1334C>T p.P445L missense 0.00000824●●●●●●
155. 59410964 c.145G>A p.G49S missense 0.00000824●●●●●●
156. 59404240 c.1309T>C p.F437L missense 0.00000824●●●●●●
157. 59404165 c.1384C>T p.L462F missense 0.00000824●●●●●●
158. 59405027 c.1100A>T p.K367M missense 0.00000824●●●●●●
159. 59405008 c.1119C>A p.H373Q missense 0.00000824●●●●●●
160. 59409564 c.507A>T p.E169D missense 0.00000824●●●●●●
161. 59404967 c.1160T>C p.I387T missense 0.00000824●●●●●●
162. 59409470 c.601C>T p.H201Y missense 0.00000824●●●●●●
163. 59409434 c.637G>C p.D213H missense 0.00000824●●●●●●
164. 59404267 c.1282C>T p.L428F missense 0.00000824●●●●●●
165. 59410931 c.178C>A p.Q60K missense 0.00000824●●●●●●
166. 59409289 c.782T>C p.M261T missense 0.00000824●●●●●●
167. 59407133 c.971A>G p.Q324R missense 0.00000824●●●●●●
168. 59404264 c.1285A>C p.K429Q missense 0.00000824●●●●●●
169. 59409539 c.532G>A p.V178M missense 0.00000824●●●●●●
170. 59412647 c.11C>T p.T4I missense 0.00000824●●●●●●
171. 59404935 c.1192C>A p.P398T missense 0.00000824●●●●●●
172. 59410963 c.146G>A p.G49D missense 0.00000824●●●●●●
173. 59409380 c.691G>T p.A231S missense 0.00000824●●●●●●
174. 59404248 c.1301A>G p.Y434C missense 0.00000824●●●●●●
175. 59409339 c.732C>G p.H244Q missense 0.00000824●●●●●●
176. 59410991 c.118C>T p.P40S missense 0.00000824●●●●●●
177. 59410891 c.218G>T p.G73V missense 0.00000824●●●●●●
178. 59409193 c.878C>T p.A293V missense 0.00000824●●●●●●
179. 59404166 c.1383G>A p.M461I missense 0.00000824●●●●●●
180. 59407066 c.1038A>T p.L346F 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.