RAF1 variants in ExAC

RAF1 gene summary
RAF1 variants in

The table below lists the RAF1 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. 12641718 c.923C>T p.P308L missense 0.00155011●●●●●●
2. 12660102 c.119G>A p.R40H missense 0.00093076●●●●●●
3. 12650261 c.581+4A>G splice site 0.00068464●●●●●●
4. 12626763 c.1537-11G>A splice site 0.00067818●●●●●●
5. 12633259 c.1141G>A p.D381N missense 0.00030480●●●●●●
6. 12653557 c.212A>G p.N71S missense 0.00025536●●●●●●
7. 12660097 c.124G>A p.A42T missense 0.00025535●●●●●●
8. 12660096 c.125C>T p.A42V missense 0.00025535●●●●●●
9. 12626428 c.1721A>G p.Y574C missense 0.00021419●●●●●●
10. 12660099 c.122G>A p.R41Q missense 0.00018121●●●●●●
11. 12641688 c.953G>A p.R318Q missense 0.00016494●●●●●●
12. 12641706 c.935T>C p.V312A missense 0.00015668●●●●●●
13. 12647694 c.680+6T>C splice site 0.00010962●●●●●●
14. 12660127 c.94A>G p.I32V missense 0.00010708●●●●●●
15. 12641191 c.1107C>T splice site 0.00009887●●●●●●
16. 12626617 c.1668+4A>G splice site 0.00009885●●●●●●
17. 12641734 c.907A>G p.T303A missense 0.00007419●●●●●●
18. 12641914 c.835G>A p.D279N missense 0.00007415●●●●●●
19. 12641923 c.835-9C>G splice site 0.00006591●●●●●●
20. 12650427 c.424-5_424-3delTGT splice site 0.00005832●●●●●●
21. 12632312 c.1355C>T p.T452M missense 0.00005766●●●●●●
22. 12641707 c.934G>A p.V312M missense 0.00004948●●●●●●
23. 12647779 c.601A>G p.I201V missense 0.00004295●●●●●●
24. 12641689 c.952C>T p.R318W missense 0.00004124●●●●●●
25. 12660168 c.53A>G p.K18R missense 0.00004121●●●●●●
26. 12641773 c.868C>A p.P290T missense 0.00004121●●●●●●
27. 12660155 c.66T>G p.F22L missense 0.00004119●●●●●●
28. 12660103 c.118C>T p.R40C missense 0.00004118●●●●●●
29. 12632325 c.1342A>G p.I448V missense 0.00003295●●●●●●
30. 12641896 c.853A>G p.S285G missense 0.00003295●●●●●●
31. 12660108 c.113A>C p.Y38S missense 0.00003295●●●●●●
32. 12632482 c.1194-9C>T splice site 0.00002562●●●●●●
33. 12647718 c.662T>C p.V221A missense 0.00002487●●●●●●
34. 12632333 c.1334T>G p.L445R missense 0.00002471●●●●●●
35. 12626366 c.1783G>A p.E595K missense 0.00002471●●●●●●
36. 12626165 c.1804-9_1804-8delTT splice site 0.00002471●●●●●●
37. 12626047 c.1913C>T p.T638M missense 0.00002471●●●●●●
38. 12647704 c.676G>A p.V226I missense 0.00001667●●●●●●
39. 12645760 c.709G>A p.A237T missense 0.00001662●●●●●●
40. 12650418 c.428G>A p.R143Q missense 0.00001661●●●●●●
41. 12660192 c.29C>T p.T10M missense 0.00001654●●●●●●
42. 12650384 c.462C>G p.I154M missense 0.00001651●●●●●●
43. 12641653 c.988A>G p.I330V missense 0.00001650●●●●●●
44. 12641667 c.974A>C p.Q325P missense 0.00001650●●●●●●
45. 12650278 c.568A>G p.I190V missense 0.00001649●●●●●●
46. 12641726 c.915G>T p.W305C missense 0.00001649●●●●●●
47. 12641713 c.928A>G p.T310A missense 0.00001649●●●●●●
48. 12641710 c.931C>T p.P311S missense 0.00001649●●●●●●
49. 12641904 c.845G>A p.R282Q missense 0.00001648●●●●●●
50. 12641223 c.1075T>C p.S359P missense 0.00001648●●●●●●
51. 12653565 c.208-4G>A splice site 0.00001648●●●●●●
52. 12626461 c.1688G>A p.R563Q missense 0.00001648●●●●●●
53. 12660160 c.61G>A p.V21M missense 0.00001648●●●●●●
54. 12626703 c.1586C>T p.S529L missense 0.00001648●●●●●●
55. 12641303 c.995C>A p.P332H missense 0.00001648●●●●●●
56. 12653476 c.293T>C p.V98A missense 0.00001648●●●●●●
57. 12645676 c.793A>G p.M265V missense 0.00001647●●●●●●
58. 12626056 c.1904A>G p.N635S missense 0.00001647●●●●●●
59. 12626146 c.1814C>T p.S605F missense 0.00001647●●●●●●
60. 12632327 c.1340A>T p.D447V missense 0.00001647●●●●●●
61. 12626408 c.1741A>G p.M581V missense 0.00001647●●●●●●
62. 12626080 c.1880G>T p.R627L missense 0.00001647●●●●●●
63. 12632370 c.1297C>G p.L433V missense 0.00001647●●●●●●
64. 12626346 c.1803G>T p.Q601H missense 0.00001647●●●●●●
65. 12626050 c.1910G>A p.C637Y missense 0.00001647●●●●●●
66. 0 c.-26-6T>C splice site 0.00000913●●●●●●
67. 12647791 c.589C>G p.P197A missense 0.00000889●●●●●●
68. 12647785 c.595T>A p.S199T missense 0.00000869●●●●●●
69. 12645774 c.695A>G p.Y232C missense 0.00000848●●●●●●
70. 12647769 c.611G>T p.S204I missense 0.00000839●●●●●●
71. 12660211 c.10A>C p.I4L missense 0.00000837●●●●●●
72. 12650425 c.424-3T>C splice site 0.00000835●●●●●●
73. 12647757 c.623C>T p.A208V missense 0.00000831●●●●●●
74. 12647752 c.628C>T p.P210S missense 0.00000830●●●●●●
75. 12650414 c.432G>C p.K144N missense 0.00000830●●●●●●
76. 12647712 c.668G>C p.R223T missense 0.00000830●●●●●●
77. 12650412 c.434C>T p.T145M missense 0.00000829●●●●●●
78. 12647733 c.647G>A p.R216H missense 0.00000828●●●●●●
79. 12660198 c.23G>C p.W8S missense 0.00000828●●●●●●
80. 12647736 c.644G>A p.R215H missense 0.00000828●●●●●●
81. 12660190 c.31A>G p.I11V missense 0.00000827●●●●●●
82. 12626756 c.1537-4G>A splice site 0.00000826●●●●●●
83. 12626755 c.1537-3T>G splice site 0.00000826●●●●●●
84. 12627296 c.1420A>G p.I474V missense 0.00000825●●●●●●
85. 12650257 c.581+8A>G splice site 0.00000825●●●●●●
86. 12650267 c.579C>T splice site 0.00000825●●●●●●
87. 12633290 c.1110A>C splice site 0.00000825●●●●●●
88. 12650283 c.563G>A p.S188N missense 0.00000825●●●●●●
89. 12641704 c.937C>A p.P313T missense 0.00000825●●●●●●
90. 12632420 c.1247A>G p.N416S missense 0.00000825●●●●●●
91. 12650364 c.482A>G p.N161S missense 0.00000825●●●●●●
92. 12632424 c.1243G>A p.D415N missense 0.00000825●●●●●●
93. 12626736 c.1553G>A p.R518Q missense 0.00000825●●●●●●
94. 12641686 c.955G>A p.A319T missense 0.00000825●●●●●●
95. 12660180 c.41G>A p.G14D missense 0.00000825●●●●●●
96. 12660072 c.149A>T p.D50V missense 0.00000824●●●●●●
97. 12653531 c.238G>A p.D80N missense 0.00000824●●●●●●
98. 12633267 c.1133A>C p.K378T missense 0.00000824●●●●●●
99. 12627200 c.1516A>G p.T506A missense 0.00000824●●●●●●
100. 12626381 c.1768A>G p.K590E missense 0.00000824●●●●●●
101. 12626450 c.1699T>A p.S567T missense 0.00000824●●●●●●
102. 12641204 c.1094delA p.Lys365ArgfsTer10 frameshift 0.00000824●●●●●●
103. 12626108 c.1852C>T p.R618W missense 0.00000824●●●●●●
104. 12626081 c.1879C>T p.R627W missense 0.00000824●●●●●●
105. 12641893 c.856G>C p.E286Q missense 0.00000824●●●●●●
106. 12626021 c.1939G>A p.V647I missense 0.00000824●●●●●●
107. 12653492 c.277C>T p.P93S missense 0.00000824●●●●●●
108. 12650314 c.532A>G p.T178A missense 0.00000824●●●●●●
109. 12626634 c.1655A>G p.N552S missense 0.00000824●●●●●●
110. 12626471 c.1678A>C p.M560L missense 0.00000824●●●●●●
111. 12641248 c.1050G>T p.M350I missense 0.00000824●●●●●●
112. 12626164 c.1804-8T>C splice site 0.00000824●●●●●●
113. 12641754 c.887G>T p.S296I missense 0.00000824●●●●●●
114. 12660079 c.142C>T p.L48F missense 0.00000824●●●●●●
115. 12653554 c.215T>C p.V72A missense 0.00000824●●●●●●
116. 12650790 c.365T>C p.I122T missense 0.00000824●●●●●●
117. 12627203 c.1513C>A p.P505T missense 0.00000824●●●●●●
118. 12626453 c.1696G>A p.A566T missense 0.00000824●●●●●●
119. 12626433 c.1716G>C p.K572N missense 0.00000824●●●●●●
120. 12641880 c.862+7_862+10delTTCC splice site 0.00000824●●●●●●
121. 12633199 c.1193+8G>C splice site 0.00000824●●●●●●
122. 12626084 c.1876C>T p.H626Y missense 0.00000824●●●●●●
123. 12660013 c.207+1G>A essential splice site 0.00000824●●●●●●
124. 12645649 c.820delA p.Ser274AlafsTer3 frameshift 0.00000824●●●●●●
125. 12641913 c.836A>G p.D279G missense 0.00000824●●●●●●
126. 12660109 c.112T>C p.Y38H missense 0.00000824●●●●●●
127. 12626030 c.1930A>G p.R644G missense 0.00000824●●●●●●
128. 12632375 c.1292A>G p.K431R missense 0.00000824●●●●●●
129. 12653509 c.260A>G p.K87R missense 0.00000824●●●●●●
130. 12650326 c.520G>C p.E174Q missense 0.00000824●●●●●●
131. 12626680 c.1609G>A p.V537I missense 0.00000824●●●●●●
132. 12626622 c.1667A>G p.Q556R missense 0.00000824●●●●●●
133. 12626375 c.1774G>A p.V592I missense 0.00000824●●●●●●
134. 12626077 c.1883C>G p.A628G missense 0.00000824●●●●●●
135. 12626135 c.1825C>T p.L609F missense 0.00000824●●●●●●
136. 12660090 c.131A>T p.D44V missense 0.00000824●●●●●●
137. 12660060 c.161C>T p.T54I missense 0.00000824●●●●●●
138. 12641300 c.998G>A p.R333H missense 0.00000824●●●●●●
139. 12653462 c.307C>T p.H103Y missense 0.00000824●●●●●●
140. 12627203 c.1513C>G p.P505A missense 0.00000824●●●●●●
141. 12627193 c.1523C>G p.S508C missense 0.00000824●●●●●●
142. 12632329 c.1338T>G p.I446M missense 0.00000824●●●●●●
143. 12626093 c.1867C>T p.P623S missense 0.00000824●●●●●●
144. 12645627 c.834+8G>A splice site 0.00000824●●●●●●
145. 12653551 c.218G>A p.R73Q missense 0.00000824●●●●●●
146. 12650782 c.373_375delGAA p.Glu125del inframe 0.00000824●●●●●●
147. 12645650 c.819C>G p.D273E missense 0.00000824●●●●●●
148. 12626147 c.1813T>G p.S605A missense 0.00000824●●●●●●
149. 12660120 c.101A>G p.Q34R missense 0.00000824●●●●●●
150. 12626018 c.1942T>G p.F648V missense 0.00000824●●●●●●
151. 12653521 c.248T>C p.M83T missense 0.00000824●●●●●●
152. 12641893 c.856G>A p.E286K missense 0.00000824●●●●●●
153. 12626632 c.1657A>C p.N553H missense 0.00000824●●●●●●
154. 12641778 c.863C>T p.A288V missense 0.00000824●●●●●●
155. 12660008 c.207+6T>G splice site 0.00000824●●●●●●
156. 12626411 c.1738G>A p.A580T missense 0.00000824●●●●●●
157. 12626379 c.1770G>C p.K590N missense 0.00000824●●●●●●
158. 12641775 c.866C>T p.S289L missense 0.00000824●●●●●●
159. 12626101 c.1859C>G p.A620G missense 0.00000824●●●●●●
160. 12641753 c.888C>A p.S296R missense 0.00000824●●●●●●
161. 12626038 c.1922C>T p.T641M missense 0.00000824●●●●●●
162. 12660099 c.122G>T p.R41L missense 0.00000824●●●●●●
163. 12632328 c.1339G>T p.D447Y missense 0.00000824●●●●●●
164. 12650735 c.420C>G p.N140K missense 0.00000824●●●●●●
165. 12627278 c.1438T>A p.L480I missense 0.00000824●●●●●●
166. 12645629 c.834+6A>G splice site 0.00000824●●●●●●
167. 12650298 c.548T>C p.M183T missense 0.00000824●●●●●●
168. 12626464 c.1685G>T p.G562V missense 0.00000824●●●●●●
169. 12650783 c.372delA p.Glu125AsnfsTer4 frameshift 0.00000824●●●●●●
170. 12645699 c.770C>G p.S257W missense 0.00000824●●●●●●
171. 12641757 c.884G>C p.S295T missense 0.00000824●●●●●●
172. 12626163 c.1804-7G>C splice site 0.00000824●●●●●●
173. 12660133 c.88C>T p.P30S 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.