RAF1 missense variants in ExAC

RAF1 gene summary
RAF1 variants in

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