TP63 variants in ExAC

TP63 gene summary
TP63 variants in

The table below lists the TP63 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. 189607152 c.1531C>A p.P511T missense 0.00285846●●●●●●
2. 189456421 c.192-10_192-9delTA splice site 0.00196175●●●●●●
3. 189584543 c.839T>A p.I280N missense 0.00122789●●●●●●
4. 189585735 c.992+4A>C splice site 0.00073343●●●●●●
5. 189582010 c.580-11A>T splice site 0.00037889●●●●●●
6. 189349324 c.20G>T p.R7L missense 0.00037102●●●●●●
7. 189586503 c.1127G>A p.R376H missense 0.00032127●●●●●●
8. 189612062 c.1814G>A p.R605Q missense 0.00014838●●●●●●
9. 189604292 c.1459C>T p.R487C missense 0.00014009●●●●●●
10. 189604298 c.1465G>A p.A489T missense 0.00012361●●●●●●
11. 189612029 c.1781G>A p.R594Q missense 0.00007419●●●●●●
12. 189582129 c.688G>C p.V230L missense 0.00007416●●●●●●
13. 189604185 c.1352C>G p.T451S missense 0.00006591●●●●●●
14. 189582212 c.766+5G>A splice site 0.00005091●●●●●●
15. 189455576 c.110G>A p.R37Q missense 0.00004948●●●●●●
16. 189586497 c.1121C>T p.T374M missense 0.00004943●●●●●●
17. 189585739 c.992+8G>A splice site 0.00004809●●●●●●
18. 189455550 c.84T>G p.H28Q missense 0.00004123●●●●●●
19. 189612055 c.1807G>C p.D603H missense 0.00004121●●●●●●
20. 189612125 c.1877T>G p.V626G missense 0.00004120●●●●●●
21. 189604200 c.1367C>T p.P456L missense 0.00004119●●●●●●
22. 189586505 c.1129C>T p.P377S missense 0.00004119●●●●●●
23. 189456529 c.290G>A p.R97H missense 0.00003305●●●●●●
24. 189612253 c.2005C>T p.R669C missense 0.00003305●●●●●●
25. 189455632 c.166C>A p.Q56K missense 0.00003304●●●●●●
26. 189587114 c.1131G>A splice site 0.00003302●●●●●●
27. 189587113 c.1130C>T p.P377L missense 0.00003302●●●●●●
28. 189607233 c.1612A>G p.T538A missense 0.00003297●●●●●●
29. 189607204 c.1583C>T p.P528L missense 0.00003297●●●●●●
30. 189604293 c.1460G>A p.R487H missense 0.00003296●●●●●●
31. 189455644 c.178G>A p.D60N missense 0.00002481●●●●●●
32. 189612254 c.2006G>A p.R669H missense 0.00002479●●●●●●
33. 189455528 c.63-1G>C essential splice site 0.00002477●●●●●●
34. 189604313 c.1480A>G p.T494A missense 0.00002472●●●●●●
35. 189586478 c.1102A>G p.T368A missense 0.00002471●●●●●●
36. 189590736 c.1301C>T p.T434M missense 0.00002471●●●●●●
37. 189582087 c.646A>T p.M216L missense 0.00002471●●●●●●
38. 189607134 c.1513A>G p.M505V missense 0.00002471●●●●●●
39. 189586502 c.1126C>T p.R376C missense 0.00002471●●●●●●
40. 189582089 c.648G>C p.M216I missense 0.00002471●●●●●●
41. 189607126 c.1508-3C>T splice site 0.00002471●●●●●●
42. 189587201 c.1212+6T>C splice site 0.00001715●●●●●●
43. 189456558 c.319A>G p.M107V missense 0.00001667●●●●●●
44. 189612269 c.2021G>A p.R674H missense 0.00001656●●●●●●
45. 189590644 c.1213-4A>G splice site 0.00001655●●●●●●
46. 189608586 c.1661C>T p.A554V missense 0.00001652●●●●●●
47. 189456525 c.286A>T p.I96F missense 0.00001652●●●●●●
48. 189587119 c.1136G>A p.R379H missense 0.00001651●●●●●●
49. 189456523 c.284G>A p.C95Y missense 0.00001651●●●●●●
50. 189587125 c.1142A>G p.N381S missense 0.00001651●●●●●●
51. 189612233 c.1985A>G p.N662S missense 0.00001650●●●●●●
52. 189584578 c.874C>G p.P292A missense 0.00001650●●●●●●
53. 189608642 c.1717A>G p.I573V missense 0.00001650●●●●●●
54. 189608622 c.1697C>T p.T566M missense 0.00001649●●●●●●
55. 189604338 c.1505A>G p.N502S missense 0.00001649●●●●●●
56. 189584503 c.799G>A p.V267I missense 0.00001649●●●●●●
57. 189612212 c.1964G>A p.R655Q missense 0.00001649●●●●●●
58. 189590667 c.1232A>T p.Y411F missense 0.00001649●●●●●●
59. 189456493 c.254C>T p.A85V missense 0.00001649●●●●●●
60. 189526211 c.475C>G p.L159V missense 0.00001648●●●●●●
61. 189586431 c.1055G>A p.R352K missense 0.00001648●●●●●●
62. 189604233 c.1400A>G p.N467S missense 0.00001648●●●●●●
63. 189582115 c.674T>C p.I225T missense 0.00001648●●●●●●
64. 189584558 c.854G>A p.S285N missense 0.00001648●●●●●●
65. 189456449 c.210G>C p.Q70H missense 0.00001648●●●●●●
66. 189526209 c.473C>T p.A158V missense 0.00001648●●●●●●
67. 189612101 c.1853G>A p.R618Q missense 0.00001648●●●●●●
68. 189586487 c.1111G>A p.G371S missense 0.00001648●●●●●●
69. 189526211 c.475C>T p.L159F missense 0.00001648●●●●●●
70. 189590729 c.1294A>G p.I432V missense 0.00001648●●●●●●
71. 189607262 c.1641C>G p.C547W missense 0.00001648●●●●●●
72. 189604199 c.1366C>T p.P456S missense 0.00001648●●●●●●
73. 189582013 c.580-8C>T splice site 0.00001647●●●●●●
74. 189526097 c.361G>A p.D121N missense 0.00001647●●●●●●
75. 189586485 c.1109A>C p.N370T missense 0.00001647●●●●●●
76. 189526133 c.397C>T p.P133S missense 0.00001647●●●●●●
77. 189526115 c.379G>A p.G127S missense 0.00001647●●●●●●
78. 189585731 c.992A>T p.D331V missense 0.00000920●●●●●●
79. 189456571 c.324+8G>A splice site 0.00000845●●●●●●
80. 189456562 c.323G>C p.W108S missense 0.00000836●●●●●●
81. 189456559 c.320T>C p.M107T missense 0.00000835●●●●●●
82. 189584595 c.882+9_882+21delCAAAAAACCAAAC splice site 0.00000831●●●●●●
83. 189612290 c.2042G>T p.Ter681LeuextTer12 nonsense 0.00000831●●●●●●
84. 189584594 c.882+8G>A splice site 0.00000831●●●●●●
85. 189612283 c.2035G>A p.G679R missense 0.00000830●●●●●●
86. 189612277 c.2029G>C p.E677Q missense 0.00000829●●●●●●
87. 189585676 c.937G>A p.V313I missense 0.00000829●●●●●●
88. 189587169 c.1186C>G p.P396A missense 0.00000829●●●●●●
89. 189456541 c.302C>T p.S101L missense 0.00000828●●●●●●
90. 189612269 c.2021G>T p.R674L missense 0.00000828●●●●●●
91. 189612269 c.2021G>C p.R674P missense 0.00000828●●●●●●
92. 189612261 c.2013G>C p.K671N missense 0.00000827●●●●●●
93. 189612256 c.2008A>C p.N670H missense 0.00000827●●●●●●
94. 189612257 c.2009A>G p.N670S missense 0.00000827●●●●●●
95. 189590650 c.1215G>T splice site 0.00000827●●●●●●
96. 189608663 c.1738T>G p.S580A missense 0.00000827●●●●●●
97. 189587131 c.1148A>C p.H383P missense 0.00000826●●●●●●
98. 189587118 c.1135C>T p.R379C missense 0.00000826●●●●●●
99. 189455522 c.63-7T>C splice site 0.00000826●●●●●●
100. 189455635 c.169C>T p.H57Y missense 0.00000826●●●●●●
101. 189587109 c.1130-4C>G splice site 0.00000826●●●●●●
102. 189612250 c.2002C>T p.R668C missense 0.00000826●●●●●●
103. 189590658 c.1223G>A p.R408H missense 0.00000826●●●●●●
104. 189456525 c.286A>G p.I96V missense 0.00000826●●●●●●
105. 189587110 c.1130-3C>T splice site 0.00000826●●●●●●
106. 189612251 c.2003G>A p.R668H missense 0.00000826●●●●●●
107. 189455575 c.109C>T p.R37X nonsense 0.00000825●●●●●●
108. 189349374 c.62+8T>C splice site 0.00000825●●●●●●
109. 189456496 c.257C>G p.T86R missense 0.00000825●●●●●●
110. 189455585 c.119T>C p.M40T missense 0.00000825●●●●●●
111. 189582150 c.709G>A p.V237I missense 0.00000825●●●●●●
112. 189584578 c.874C>A p.P292T missense 0.00000825●●●●●●
113. 189526322 c.579+7G>T splice site 0.00000825●●●●●●
114. 189612211 c.1963C>G p.R655G missense 0.00000825●●●●●●
115. 189584503 c.799G>T p.V267L missense 0.00000825●●●●●●
116. 189455576 c.110G>T p.R37L missense 0.00000825●●●●●●
117. 189455551 c.85T>G p.F29V missense 0.00000825●●●●●●
118. 189612232 c.1984A>G p.N662D missense 0.00000825●●●●●●
119. 189455533 c.67G>A p.V23I missense 0.00000825●●●●●●
120. 189586394 c.1018T>C p.F340L missense 0.00000825●●●●●●
121. 189455540 c.74delC p.Pro26GlnfsTer49 frameshift 0.00000825●●●●●●
122. 189455584 c.118A>G p.M40V missense 0.00000825●●●●●●
123. 189455564 c.98A>C p.E33A missense 0.00000825●●●●●●
124. 189604283 c.1450C>A p.P484T missense 0.00000824●●●●●●
125. 189582027 c.586A>G p.T196A missense 0.00000824●●●●●●
126. 189526184 c.448G>A p.A150T missense 0.00000824●●●●●●
127. 189526145 c.409G>C p.D137H missense 0.00000824●●●●●●
128. 189582114 c.673A>G p.I225V missense 0.00000824●●●●●●
129. 189590778 c.1343A>C p.Q448P missense 0.00000824●●●●●●
130. 189526155 c.419A>G p.Q140R missense 0.00000824●●●●●●
131. 189612178 c.1930T>C p.F644L missense 0.00000824●●●●●●
132. 189456431 c.192G>C p.Q64H missense 0.00000824●●●●●●
133. 189349323 c.19C>T p.R7W missense 0.00000824●●●●●●
134. 189604297 c.1464C>G p.N488K missense 0.00000824●●●●●●
135. 189582089 c.648G>A p.M216I missense 0.00000824●●●●●●
136. 189349327 c.23G>T p.C8F missense 0.00000824●●●●●●
137. 189582114 c.673A>T p.I225F missense 0.00000824●●●●●●
138. 189604227 c.1394C>T p.P465L missense 0.00000824●●●●●●
139. 189604194 c.1361A>C p.Q454P missense 0.00000824●●●●●●
140. 189526190 c.454C>T p.P152S missense 0.00000824●●●●●●
141. 189590732 c.1297G>C p.E433Q missense 0.00000824●●●●●●
142. 189590672 c.1237A>T p.M413L missense 0.00000824●●●●●●
143. 189526111 c.375G>C p.Q125H missense 0.00000824●●●●●●
144. 189612077 c.1829T>G p.F610C missense 0.00000824●●●●●●
145. 189612133 c.1885G>A p.G629S missense 0.00000824●●●●●●
146. 189607272 c.1651A>G p.S551G missense 0.00000824●●●●●●
147. 189526053 c.325-8C>T splice site 0.00000824●●●●●●
148. 189582028 c.587C>A p.T196N missense 0.00000824●●●●●●
149. 189526122 c.386C>T p.S129L missense 0.00000824●●●●●●
150. 189526156 c.420G>T p.Q140H missense 0.00000824●●●●●●
151. 189526152 c.416C>T p.A139V missense 0.00000824●●●●●●
152. 189526241 c.505_511delACCGACT p.Asp170GlnfsTer27 frameshift 0.00000824●●●●●●
153. 189612155 c.1907A>C p.E636A missense 0.00000824●●●●●●
154. 189612194 c.1946C>T p.T649I missense 0.00000824●●●●●●
155. 189612027 c.1779T>A p.F593L missense 0.00000824●●●●●●
156. 189586462 c.1086G>C p.Q362H missense 0.00000824●●●●●●
157. 189456484 c.245A>G p.E82G missense 0.00000824●●●●●●
158. 189456433 c.194C>T p.P65L missense 0.00000824●●●●●●
159. 189607132 c.1511C>T p.P504L missense 0.00000824●●●●●●
160. 189582099 c.658C>G p.P220A missense 0.00000824●●●●●●
161. 189349366 c.62G>A p.R21H missense 0.00000824●●●●●●
162. 189604196 c.1363T>G p.S455A missense 0.00000824●●●●●●
163. 189612127 c.1879A>G p.S627G missense 0.00000824●●●●●●
164. 189604230 c.1397T>C p.L466P missense 0.00000824●●●●●●
165. 189526226 c.490G>A p.A164T missense 0.00000824●●●●●●
166. 189590753 c.1318C>G p.Q440E missense 0.00000824●●●●●●
167. 189590674 c.1239G>A p.M413I missense 0.00000824●●●●●●
168. 189526114 c.378C>G p.N126K missense 0.00000824●●●●●●
169. 189612145 c.1897A>G p.T633A missense 0.00000824●●●●●●
170. 189586485 c.1109A>G p.N370S missense 0.00000824●●●●●●
171. 189604316 c.1483A>G p.I495V missense 0.00000824●●●●●●
172. 189607151 c.1530G>T p.M510I missense 0.00000824●●●●●●
173. 189607209 c.1588T>C p.S530P missense 0.00000824●●●●●●
174. 189604310 c.1477A>G p.T493A missense 0.00000824●●●●●●
175. 189526053 c.325-8C>G splice site 0.00000824●●●●●●
176. 189349324 c.20G>A p.R7Q missense 0.00000824●●●●●●
177. 189349367 c.62+1G>A essential splice site 0.00000824●●●●●●
178. 189604187 c.1354T>G p.S452A missense 0.00000824●●●●●●
179. 189526160 c.424A>T p.S142C missense 0.00000824●●●●●●
180. 189604301 c.1468C>T p.L490F missense 0.00000824●●●●●●
181. 189526065 c.329A>G p.Q110R missense 0.00000824●●●●●●
182. 189590742 c.1307_1308insGCAACA p.R436delinsRQQ inframe 0.00000824●●●●●●
183. 189612035 c.1787C>T p.A596V missense 0.00000824●●●●●●
184. 189586463 c.1087C>A p.Q363K missense 0.00000824●●●●●●
185. 189456487 c.248A>T p.D83V missense 0.00000824●●●●●●
186. 189456435 c.196A>G p.I66V missense 0.00000824●●●●●●
187. 189607136 c.1515G>C p.M505I missense 0.00000824●●●●●●
188. 189582111 c.670G>A p.V224I missense 0.00000824●●●●●●
189. 189582118 c.677G>A p.R226H missense 0.00000824●●●●●●
190. 189456426 c.192-5G>A splice site 0.00000824●●●●●●
191. 189604245 c.1412G>A p.S471N missense 0.00000824●●●●●●
192. 189526265 c.529T>G p.F177V missense 0.00000824●●●●●●
193. 189590774 c.1339C>T p.L447F missense 0.00000824●●●●●●
194. 189526155 c.419A>C p.Q140P missense 0.00000824●●●●●●
195. 189582028 c.587C>G p.T196S missense 0.00000824●●●●●●
196. 189612158 c.1910G>A p.R637H missense 0.00000824●●●●●●
197. 189608610 c.1685T>G p.L562R missense 0.00000824●●●●●●
198. 189604332 c.1499G>A p.G500E missense 0.00000824●●●●●●
199. 189604293 c.1460G>C p.R487P missense 0.00000824●●●●●●
200. 189349327 c.23G>A p.C8Y missense 0.00000824●●●●●●
201. 189349353 c.49C>G p.P17A missense 0.00000824●●●●●●
202. 189349364 c.60G>A splice site 0.00000824●●●●●●
203. 189604190 c.1357A>G p.I453V missense 0.00000824●●●●●●
204. 189526176 c.440C>T p.S147L missense 0.00000824●●●●●●
205. 189607206 c.1585C>T p.L529F missense 0.00000824●●●●●●
206. 189604218 c.1385G>A p.S462N missense 0.00000824●●●●●●
207. 189526076 c.340C>G p.L114V missense 0.00000824●●●●●●
208. 189604330 c.1497G>A p.M499I missense 0.00000824●●●●●●
209. 189456472 c.233A>T p.D78V missense 0.00000824●●●●●●
210. 189612114 c.1866T>G p.S622R missense 0.00000824●●●●●●
211. 189612053 c.1805T>A p.L602Q missense 0.00000824●●●●●●
212. 189586482 c.1106A>G p.K369R missense 0.00000824●●●●●●
213. 189586506 c.1129+1G>A essential splice site 0.00000824●●●●●●
214. 189607149 c.1528A>G p.M510V missense 0.00000824●●●●●●
215. 189584513 c.809A>G p.N270S 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.