ILK missense variants in ExAC

ILK gene summary
ILK variants in

The table below lists the ILK 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. 6625566 c.65A>G p.N22S missense 0.00187288●●●●●●
2. 6630542 c.631C>T p.R211C missense 0.00084056●●●●●●
3. 6630007 c.435A>C p.R145S missense 0.00078268●●●●●●
4. 6629343 c.157T>A p.L53M missense 0.00035429●●●●●●
5. 6630618 c.707A>G p.N236S missense 0.00032131●●●●●●
6. 6630169 c.503T>G p.F168C missense 0.00020596●●●●●●
7. 6630543 c.632G>A p.R211H missense 0.00012362●●●●●●
8. 6631234 c.1046G>A p.R349H missense 0.00010714●●●●●●
9. 6630580 c.669G>T p.K223N missense 0.00010712●●●●●●
10. 6631060 c.962A>G p.N321S missense 0.00008238●●●●●●
11. 6629942 c.370G>T p.A124S missense 0.00007414●●●●●●
12. 6631029 c.931C>A p.L311I missense 0.00006590●●●●●●
13. 6631254 c.1066G>A p.V356I missense 0.00005768●●●●●●
14. 6630132 c.466G>A p.G156S missense 0.00005767●●●●●●
15. 6631189 c.1001G>A p.R334Q missense 0.00004946●●●●●●
16. 6630383 c.614G>A p.G205E missense 0.00004944●●●●●●
17. 6630832 c.818C>G p.P273R missense 0.00004943●●●●●●
18. 6629352 c.166C>T p.R56W missense 0.00004121●●●●●●
19. 6630320 c.551A>C p.K184T missense 0.00004119●●●●●●
20. 6629705 c.337G>T p.D113Y missense 0.00004119●●●●●●
21. 6629982 c.410T>C p.V137A missense 0.00004118●●●●●●
22. 6629314 c.128G>A p.R43Q missense 0.00003298●●●●●●
23. 6629316 c.130G>C p.E44Q missense 0.00003297●●●●●●
24. 6631234 c.1046G>T p.R349L missense 0.00003296●●●●●●
25. 6629379 c.193C>T p.R65C missense 0.00003295●●●●●●
26. 6630184 c.518C>T p.T173I missense 0.00003295●●●●●●
27. 6630147 c.481C>T p.R161C missense 0.00003295●●●●●●
28. 6629645 c.277A>G p.I93V missense 0.00003295●●●●●●
29. 6630605 c.694A>T p.S232C missense 0.00003295●●●●●●
30. 6630117 c.451C>T p.R151W missense 0.00003295●●●●●●
31. 6630311 c.542C>T p.T181I missense 0.00003295●●●●●●
32. 6630011 c.439C>T p.L147F missense 0.00002475●●●●●●
33. 6629323 c.137G>A p.R46H missense 0.00002473●●●●●●
34. 6631210 c.1022A>G p.K341R missense 0.00002473●●●●●●
35. 6629340 c.154A>G p.M52V missense 0.00002472●●●●●●
36. 6630566 c.655G>A p.V219M missense 0.00002472●●●●●●
37. 6629370 c.184G>A p.V62I missense 0.00002471●●●●●●
38. 6631758 c.1275G>A p.M425I missense 0.00002471●●●●●●
39. 6629969 c.397G>A p.G133R missense 0.00002471●●●●●●
40. 6630960 c.862G>A p.V288I missense 0.00002471●●●●●●
41. 6631463 c.1163G>A p.R388Q missense 0.00002471●●●●●●
42. 6629666 c.298G>A p.G100R missense 0.00002471●●●●●●
43. 6625536 c.35A>G p.N12S missense 0.00002038●●●●●●
44. 6629280 c.94G>A p.D32N missense 0.00001650●●●●●●
45. 6631711 c.1228C>T p.R410W missense 0.00001649●●●●●●
46. 6629355 c.169G>C p.G57R missense 0.00001648●●●●●●
47. 6630633 c.722G>A p.R241Q missense 0.00001648●●●●●●
48. 6631393 c.1093C>G p.P365A missense 0.00001648●●●●●●
49. 6630150 c.484A>G p.I162V missense 0.00001648●●●●●●
50. 6630187 c.521G>A p.R174H missense 0.00001648●●●●●●
51. 6631053 c.955G>A p.A319T missense 0.00001648●●●●●●
52. 6631790 c.1307G>A p.R436Q missense 0.00001648●●●●●●
53. 6631386 c.1086G>C p.Q362H missense 0.00001648●●●●●●
54. 6630186 c.520C>T p.R174C missense 0.00001648●●●●●●
55. 6630626 c.715T>C p.C239R missense 0.00001648●●●●●●
56. 6630349 c.580A>G p.N194D missense 0.00001648●●●●●●
57. 6629361 c.175C>T p.R59W missense 0.00001648●●●●●●
58. 6630382 c.613G>A p.G205R missense 0.00001648●●●●●●
59. 6631712 c.1229G>A p.R410Q missense 0.00001648●●●●●●
60. 6629337 c.151G>C p.E51Q missense 0.00001648●●●●●●
61. 6631417 c.1117G>A p.A373T missense 0.00001648●●●●●●
62. 6630963 c.865G>A p.V289M missense 0.00001647●●●●●●
63. 6631048 c.950G>A p.R317Q missense 0.00001647●●●●●●
64. 6625574 c.73A>G p.N25D missense 0.00001263●●●●●●
65. 6625556 c.55T>C p.W19R missense 0.00001090●●●●●●
66. 6625544 c.43G>A p.A15T missense 0.00001035●●●●●●
67. 6625511 c.10A>G p.I4V missense 0.00001026●●●●●●
68. 6625514 c.13T>A p.F5I missense 0.00001021●●●●●●
69. 6625527 c.26G>A p.R9Q missense 0.00001011●●●●●●
70. 6630012 c.440T>C p.L147P missense 0.00000826●●●●●●
71. 6629308 c.122C>T p.A41V missense 0.00000825●●●●●●
72. 6630626 c.715T>G p.C239G missense 0.00000824●●●●●●
73. 6631729 c.1246G>A p.G416S missense 0.00000824●●●●●●
74. 6630359 c.590C>T p.T197M missense 0.00000824●●●●●●
75. 6630184 c.518C>A p.T173N missense 0.00000824●●●●●●
76. 6631236 c.1048A>G p.M350V missense 0.00000824●●●●●●
77. 6630118 c.452G>A p.R151Q missense 0.00000824●●●●●●
78. 6631039 c.941T>A p.L314H missense 0.00000824●●●●●●
79. 6630988 c.890T>C p.F297S missense 0.00000824●●●●●●
80. 6630552 c.641G>C p.G214A missense 0.00000824●●●●●●
81. 6631018 c.920T>C p.F307S missense 0.00000824●●●●●●
82. 6630816 c.802A>G p.I268V missense 0.00000824●●●●●●
83. 6629392 c.206C>G p.T69S missense 0.00000824●●●●●●
84. 6630552 c.641G>A p.G214D missense 0.00000824●●●●●●
85. 6629349 c.163A>T p.M55L missense 0.00000824●●●●●●
86. 6631435 c.1135G>A p.A379T missense 0.00000824●●●●●●
87. 6631508 c.1208A>G p.K403R missense 0.00000824●●●●●●
88. 6631207 c.1019T>G p.V340G missense 0.00000824●●●●●●
89. 6630865 c.851G>A p.G284D missense 0.00000824●●●●●●
90. 6629681 c.313C>A p.H105N missense 0.00000824●●●●●●
91. 6629642 c.274G>A p.D92N missense 0.00000824●●●●●●
92. 6631066 c.968G>A p.R323H missense 0.00000824●●●●●●
93. 6630787 c.773A>G p.Q258R missense 0.00000824●●●●●●
94. 6629359 c.173C>T p.A58V missense 0.00000824●●●●●●
95. 6630364 c.595C>T p.L199F missense 0.00000824●●●●●●
96. 6629948 c.376G>T p.V126F missense 0.00000824●●●●●●
97. 6630314 c.545T>C p.L182P missense 0.00000824●●●●●●
98. 6631403 c.1103C>G p.T368R missense 0.00000824●●●●●●
99. 6630156 c.490T>C p.Y164H missense 0.00000824●●●●●●
100. 6630623 c.712G>C p.E238Q missense 0.00000824●●●●●●
101. 6630128 c.462G>T p.K154N missense 0.00000824●●●●●●
102. 6630993 c.895T>G p.L299V missense 0.00000824●●●●●●
103. 6629949 c.377T>C p.V126A missense 0.00000824●●●●●●
104. 6631038 c.940C>T p.L314F missense 0.00000824●●●●●●
105. 6630832 c.818C>A p.P273Q missense 0.00000824●●●●●●
106. 6630817 c.803T>C p.I268T missense 0.00000824●●●●●●
107. 6629392 c.206C>T p.T69I missense 0.00000824●●●●●●
108. 6629350 c.164T>C p.M55T missense 0.00000824●●●●●●
109. 6630555 c.644A>G p.N215S missense 0.00000824●●●●●●
110. 6631460 c.1160C>T p.T387I missense 0.00000824●●●●●●
111. 6630181 c.515C>T p.T172I missense 0.00000824●●●●●●
112. 6631255 c.1067T>C p.V356A missense 0.00000824●●●●●●
113. 6630557 c.646G>T p.D216Y missense 0.00000824●●●●●●
114. 6631170 c.982G>C p.D328H missense 0.00000824●●●●●●
115. 6629696 c.328T>G p.W110G missense 0.00000824●●●●●●
116. 6630792 c.778C>T p.P260S missense 0.00000824●●●●●●
117. 6629380 c.194G>T p.R65L missense 0.00000824●●●●●●
118. 6629999 c.427C>A p.P143T missense 0.00000824●●●●●●
119. 6631813 c.1330C>G p.P444A missense 0.00000824●●●●●●
120. 6631807 c.1324A>G p.I442V missense 0.00000824●●●●●●
121. 6631411 c.1111C>T p.R371C missense 0.00000824●●●●●●
122. 6630160 c.494A>T p.K165M missense 0.00000824●●●●●●
123. 6630846 c.832T>C p.Y278H missense 0.00000824●●●●●●
124. 6630378 c.609C>A p.H203Q missense 0.00000824●●●●●●
125. 6629970 c.398G>C p.G133A missense 0.00000824●●●●●●
126. 6629966 c.394T>G p.Y132D missense 0.00000824●●●●●●
127. 6630820 c.806C>T p.T269I missense 0.00000824●●●●●●
128. 6629414 c.228T>G p.S76R missense 0.00000824●●●●●●
129. 6630832 c.818C>T p.P273L missense 0.00000824●●●●●●
130. 6630632 c.721C>T p.R241W missense 0.00000824●●●●●●
131. 6629332 c.146T>C p.V49A missense 0.00000824●●●●●●
132. 6630181 c.515C>A p.T172N missense 0.00000824●●●●●●
133. 6631265 c.1077A>C p.E359D missense 0.00000824●●●●●●
134. 6631000 c.902T>C p.M301T missense 0.00000824●●●●●●
135. 6630978 c.880G>C p.A294P missense 0.00000824●●●●●●
136. 6630808 c.794C>T p.P265L missense 0.00000824●●●●●●
137. 6629382 c.196G>A p.G66R missense 0.00000824●●●●●●
138. 6630000 c.428C>T p.P143L missense 0.00000824●●●●●●
139. 6630547 c.636G>T p.W212C missense 0.00000824●●●●●●
140. 6630967 c.869A>G p.D290G missense 0.00000824●●●●●●
141. 6629994 c.422A>G p.K141R missense 0.00000824●●●●●●
142. 6630162 c.496G>C p.D166H missense 0.00000824●●●●●●
143. 6631500 c.1200T>G p.I400M missense 0.00000824●●●●●●
144. 6631051 c.953A>G p.H318R missense 0.00000824●●●●●●
145. 6631412 c.1112G>A p.R371H missense 0.00000824●●●●●●
146. 6629967 c.395A>G p.Y132C missense 0.00000824●●●●●●
147. 6631181 c.993G>C p.M331I missense 0.00000824●●●●●●
148. 6630852 c.838G>A p.V280I missense 0.00000824●●●●●●
149. 6629425 c.239G>A p.R80H missense 0.00000824●●●●●●
150. 6631041 c.943A>G p.I315V 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.