FKRP variants in ExAC

FKRP gene summary
FKRP variants in

The table below lists the FKRP 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. 47259048 c.341C>G p.A114G missense 0.02240424●●●●●●
2. 47259227 c.520A>T p.S174C missense 0.01176569●●●●●●
3. 47259134 c.427C>A p.R143S missense 0.01042781●●●●●●
4. 47259529 c.822C>G p.I274M missense 0.00415408●●●●●●
5. 47259533 c.826C>A p.L276I missense 0.00396100●●●●●●
6. 47258942 c.235G>A p.V79M missense 0.00158863●●●●●●
7. 47259498 c.791G>A p.R264Q missense 0.00078125●●●●●●
8. 47259884 c.1177G>A p.V393I missense 0.00063965●●●●●●
9. 47259536 c.829G>C p.V277L missense 0.00054885●●●●●●
10. 47259163 c.456C>G p.S152R missense 0.00049718●●●●●●
11. 47259452 c.745G>A p.A249T missense 0.00035778●●●●●●
12. 47259861 c.1154C>T p.S385L missense 0.00031699●●●●●●
13. 47259768 c.1061G>A p.G354E missense 0.00027916●●●●●●
14. 47259110 c.403G>A p.A135T missense 0.00027412●●●●●●
15. 47259780 c.1073C>T p.P358L missense 0.00027160●●●●●●
16. 47259035 c.328C>T p.R110W missense 0.00025471●●●●●●
17. 47259141 c.434T>G p.V145G missense 0.00024963●●●●●●
18. 47260013 c.1306C>T p.R436W missense 0.00023247●●●●●●
19. 47259413 c.706C>G p.L236V missense 0.00022099●●●●●●
20. 47259248 c.541C>A p.R181S missense 0.00021975●●●●●●
21. 47260094 c.1387A>G p.N463D missense 0.00017419●●●●●●
22. 47258829 c.122G>T p.R41L missense 0.00014115●●●●●●
23. 47259252 c.545A>G p.Y182C missense 0.00014083●●●●●●
24. 47259051 c.344C>T p.S115L missense 0.00013134●●●●●●
25. 47259173 c.466G>A p.V156M missense 0.00012963●●●●●●
26. 47259635 c.928G>C p.E310Q missense 0.00012034●●●●●●
27. 47259669 c.962C>A p.A321E missense 0.00009046●●●●●●
28. 47258990 c.283C>T p.R95C missense 0.00008670●●●●●●
29. 47260148 c.1441C>G p.P481A missense 0.00008640●●●●●●
30. 47259710 c.1003G>A p.A335T missense 0.00008584●●●●●●
31. 47259269 c.562G>A p.A188T missense 0.00008246●●●●●●
32. 47259240 c.533G>A p.W178X nonsense 0.00007768●●●●●●
33. 47259735 c.1028A>C p.E343A missense 0.00007703●●●●●●
34. 47258718 c.11C>G p.T4S missense 0.00007635●●●●●●
35. 47258858 c.151G>A p.V51I missense 0.00007230●●●●●●
36. 47259251 c.544T>C p.Y182H missense 0.00007052●●●●●●
37. 47259026 c.319G>T p.A107S missense 0.00007018●●●●●●
38. 47259687 c.980G>A p.R327H missense 0.00006868●●●●●●
39. 47259804 c.1097G>A p.G366D missense 0.00006361●●●●●●
40. 47259626 c.919T>A p.Y307N missense 0.00006210●●●●●●
41. 47259627 c.920A>G p.Y307C missense 0.00006181●●●●●●
42. 47259635 c.928G>T p.E310X nonsense 0.00006017●●●●●●
43. 47258939 c.232C>T p.P78S missense 0.00005849●●●●●●
44. 47259020 c.313C>T p.Q105X nonsense 0.00005674●●●●●●
45. 47258711 c.4C>T p.R2W missense 0.00005657●●●●●●
46. 47259650 c.943delC p.Cys317AlafsTer111 frameshift 0.00005577●●●●●●
47. 47259756 c.1049C>G p.A350G missense 0.00005574●●●●●●
48. 47258717 c.10A>C p.T4P missense 0.00005486●●●●●●
49. 47259654 c.947C>G p.P316R missense 0.00005265●●●●●●
50. 47260134 c.1427G>A p.G476E missense 0.00005256●●●●●●
51. 47259263 c.556C>G p.P186A missense 0.00005071●●●●●●
52. 47259843 c.1136G>A p.R379Q missense 0.00004969●●●●●●
53. 47259264 c.557C>G p.P186R missense 0.00004863●●●●●●
54. 47259335 c.628C>G p.L210V missense 0.00004382●●●●●●
55. 47260074 c.1367G>A p.G456D missense 0.00004380●●●●●●
56. 47260099 c.1392C>G p.N464K missense 0.00004356●●●●●●
57. 47259977 c.1270A>C p.N424H missense 0.00004216●●●●●●
58. 47259320 c.613C>G p.R205G missense 0.00004159●●●●●●
59. 47259270 c.563C>T p.A188V missense 0.00004030●●●●●●
60. 47259002 c.295G>A p.V99M missense 0.00003715●●●●●●
61. 47259761 c.1054C>T p.R352C missense 0.00003472●●●●●●
62. 47258775 c.68A>G p.Y23C missense 0.00003170●●●●●●
63. 47258739 c.32C>T p.A11V missense 0.00003145●●●●●●
64. 47260083 c.1376C>T p.A459V missense 0.00002933●●●●●●
65. 47260053 c.1346T>C p.L449P missense 0.00002778●●●●●●
66. 47260107 c.1400G>C p.R467P missense 0.00002740●●●●●●
67. 47260042 c.1335C>A p.F445L missense 0.00002710●●●●●●
68. 47258879 c.172G>A p.A58T missense 0.00002450●●●●●●
69. 47259846 c.1139G>A p.G380E missense 0.00002419●●●●●●
70. 47259293 c.586G>C p.G196R missense 0.00002414●●●●●●
71. 47258847 c.140C>A p.P47H missense 0.00002384●●●●●●
72. 47259342 c.635C>T p.A212V missense 0.00002317●●●●●●
73. 47258973 c.266C>T p.P89L missense 0.00002309●●●●●●
74. 47259339 c.632C>T p.S211L missense 0.00002249●●●●●●
75. 47258967 c.260C>T p.P87L missense 0.00002216●●●●●●
76. 47259785 c.1078G>C p.D360H missense 0.00002082●●●●●●
77. 47258766 c.59T>C p.V20A missense 0.00002078●●●●●●
78. 47259878 c.1171G>C p.G391R missense 0.00002052●●●●●●
79. 47259786 c.1079A>T p.D360V missense 0.00002048●●●●●●
80. 47259960 c.1253G>A p.W418X nonsense 0.00002022●●●●●●
81. 47260193 c.1486T>A p.X496R missense 0.00001852●●●●●●
82. 47260189 c.1482C>A p.S494R missense 0.00001850●●●●●●
83. 47260190 c.1483G>T p.G495C missense 0.00001848●●●●●●
84. 0 c.-39-5C>T splice site 0.00001583●●●●●●
85. 47258945 c.238G>A p.V80M missense 0.00001543●●●●●●
86. 47259815 c.1108G>A p.E370K missense 0.00001476●●●●●●
87. 47260089 c.1382C>A p.A461E missense 0.00001467●●●●●●
88. 47260091 c.1384C>T p.P462S missense 0.00001448●●●●●●
89. 47259819 c.1112A>T p.D371V missense 0.00001439●●●●●●
90. 47260071 c.1364C>T p.A455V missense 0.00001437●●●●●●
91. 47260070 c.1363G>T p.A455S missense 0.00001431●●●●●●
92. 47259822 c.1115T>G p.V372G missense 0.00001394●●●●●●
93. 47258929 c.222delC p.Pro75GlnfsTer54 frameshift 0.00001388●●●●●●
94. 47260050 c.1343C>T p.P448L missense 0.00001382●●●●●●
95. 47260107 c.1400G>A p.R467H missense 0.00001370●●●●●●
96. 47259830 c.1123T>A p.C375S missense 0.00001337●●●●●●
97. 47260032 c.1325C>T p.P442L missense 0.00001311●●●●●●
98. 47258910 c.203A>G p.D68G missense 0.00001293●●●●●●
99. 47258910 c.203A>C p.D68A missense 0.00001293●●●●●●
100. 47260023 c.1316T>A p.V439E missense 0.00001263●●●●●●
101. 47258898 c.191C>T p.P64L missense 0.00001258●●●●●●
102. 47260014 c.1307G>A p.R436Q missense 0.00001235●●●●●●
103. 47258876 c.169G>T p.E57X nonsense 0.00001225●●●●●●
104. 47258876 c.169G>A p.E57K missense 0.00001225●●●●●●
105. 47258877 c.170A>T p.E57V missense 0.00001221●●●●●●
106. 47259845 c.1138G>C p.G380R missense 0.00001214●●●●●●
107. 47259849 c.1142C>T p.A381V missense 0.00001198●●●●●●
108. 47258817 c.110G>A p.R37Q missense 0.00001184●●●●●●
109. 47259852 c.1145A>T p.E382V missense 0.00001183●●●●●●
110. 47258822 c.115C>G p.P39A missense 0.00001179●●●●●●
111. 47258822 c.115C>T p.P39S missense 0.00001179●●●●●●
112. 47258832 c.125C>G p.A42G missense 0.00001177●●●●●●
113. 47260005 c.1298T>C p.L433P missense 0.00001174●●●●●●
114. 47258811 c.104G>C p.R35P missense 0.00001168●●●●●●
115. 47260125 c.1418T>G p.F473C missense 0.00001159●●●●●●
116. 47260128 c.1421G>C p.G474A missense 0.00001118●●●●●●
117. 47259992 c.1285A>G p.K429E missense 0.00001109●●●●●●
118. 47258793 c.86A>G p.H29R missense 0.00001108●●●●●●
119. 47258717 c.10A>G p.T4A missense 0.00001097●●●●●●
120. 47258790 c.83A>T p.Q28L missense 0.00001094●●●●●●
121. 47258784 c.77G>T p.W26L missense 0.00001080●●●●●●
122. 47259869 c.1162G>A p.D388N missense 0.00001078●●●●●●
123. 47258781 c.74C>T p.S25L missense 0.00001078●●●●●●
124. 47259981 c.1274G>C p.G425A missense 0.00001065●●●●●●
125. 47258730 c.23C>G p.A8G missense 0.00001060●●●●●●
126. 47258733 c.26C>T p.A9V missense 0.00001058●●●●●●
127. 47259874 c.1167_1168delGC p.Gly391LeufsTer72 frameshift 0.00001058●●●●●●
128. 47259976 c.1269_1270insT p.N424*fs*1 frameshift 0.00001055●●●●●●
129. 47258744 c.37G>A p.A13T missense 0.00001039●●●●●●
130. 47258757 c.50A>G p.N17S missense 0.00001032●●●●●●
131. 47259878 c.1171G>A p.G391S missense 0.00001026●●●●●●
132. 47259884 c.1177G>C p.V393L missense 0.00000999●●●●●●
133. 47259884 c.1177G>T p.V393L missense 0.00000999●●●●●●
134. 47259951 c.1244T>C p.V415A missense 0.00000996●●●●●●
135. 47259890 c.1183G>A p.E395K missense 0.00000983●●●●●●
136. 47259892 c.1185_1186insA p.Ala397GlyfsTer67 frameshift 0.00000981●●●●●●
137. 47260146 c.1439A>G p.N480S missense 0.00000970●●●●●●
138. 47260146 c.1439A>T p.N480I missense 0.00000970●●●●●●
139. 47259930 c.1223G>A p.S408N missense 0.00000960●●●●●●
140. 47259915 c.1208T>A p.F403Y missense 0.00000953●●●●●●
141. 47260161 c.1454A>T p.N485I missense 0.00000929●●●●●●
142. 47260184 c.1477G>A p.G493R missense 0.00000923●●●●●●
143. 47260176 c.1469G>T p.S490I missense 0.00000919●●●●●●

* 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.