ILK variants in ExAC

ILK gene summary
ILK variants in

The table below lists the ILK 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. 6630029 c.448+9delC splice site 0.99999176●●●●●●
2. 6630028 c.448+8delT splice site 0.16666667●●●●●●
3. 6625566 c.65A>G p.N22S missense 0.00187288●●●●●●
4. 6630542 c.631C>T p.R211C missense 0.00084056●●●●●●
5. 6630007 c.435A>C p.R145S missense 0.00078268●●●●●●
6. 6630524 c.619-6C>T splice site 0.00074991●●●●●●
7. 6629343 c.157T>A p.L53M missense 0.00035429●●●●●●
8. 6630618 c.707A>G p.N236S missense 0.00032131●●●●●●
9. 6631689 c.1210-4G>A splice site 0.00029724●●●●●●
10. 6630519 c.619-11C>T splice site 0.00027194●●●●●●
11. 6630169 c.503T>G p.F168C missense 0.00020596●●●●●●
12. 6629445 c.255+4C>T splice site 0.00014005●●●●●●
13. 6630543 c.632G>A p.R211H missense 0.00012362●●●●●●
14. 6631234 c.1046G>A p.R349H missense 0.00010714●●●●●●
15. 6630580 c.669G>T p.K223N missense 0.00010712●●●●●●
16. 6630736 c.729-7C>A splice site 0.00009895●●●●●●
17. 6625587 c.86delA p.Gln29ArgfsTer25 frameshift 0.00009823●●●●●●
18. 6631060 c.962A>G p.N321S missense 0.00008238●●●●●●
19. 6629942 c.370G>T p.A124S missense 0.00007414●●●●●●
20. 6630647 c.728+8A>C splice site 0.00006591●●●●●●
21. 6631029 c.931C>A p.L311I missense 0.00006590●●●●●●
22. 6631254 c.1066G>A p.V356I missense 0.00005768●●●●●●
23. 6630132 c.466G>A p.G156S missense 0.00005767●●●●●●
24. 6631189 c.1001G>A p.R334Q missense 0.00004946●●●●●●
25. 6630383 c.614G>A p.G205E missense 0.00004944●●●●●●
26. 6630832 c.818C>G p.P273R missense 0.00004943●●●●●●
27. 6629352 c.166C>T p.R56W missense 0.00004121●●●●●●
28. 6629705 c.337G>T p.D113Y missense 0.00004119●●●●●●
29. 6630320 c.551A>C p.K184T missense 0.00004119●●●●●●
30. 6629982 c.410T>C p.V137A missense 0.00004118●●●●●●
31. 6630740 c.729-3T>C splice site 0.00003298●●●●●●
32. 6629314 c.128G>A p.R43Q missense 0.00003298●●●●●●
33. 6629316 c.130G>C p.E44Q missense 0.00003297●●●●●●
34. 6631234 c.1046G>T p.R349L missense 0.00003296●●●●●●
35. 6629645 c.277A>G p.I93V missense 0.00003295●●●●●●
36. 6630147 c.481C>T p.R161C missense 0.00003295●●●●●●
37. 6630311 c.542C>T p.T181I missense 0.00003295●●●●●●
38. 6630117 c.451C>T p.R151W missense 0.00003295●●●●●●
39. 6629379 c.193C>T p.R65C missense 0.00003295●●●●●●
40. 6630605 c.694A>T p.S232C missense 0.00003295●●●●●●
41. 6630184 c.518C>T p.T173I missense 0.00003295●●●●●●
42. 6631688 c.1210-5C>T splice site 0.00002478●●●●●●
43. 6631691 c.1210-2A>G essential splice site 0.00002476●●●●●●
44. 6630011 c.439C>T p.L147F missense 0.00002475●●●●●●
45. 6629323 c.137G>A p.R46H missense 0.00002473●●●●●●
46. 6631210 c.1022A>G p.K341R missense 0.00002473●●●●●●
47. 6629340 c.154A>G p.M52V missense 0.00002472●●●●●●
48. 6630566 c.655G>A p.V219M missense 0.00002472●●●●●●
49. 6629969 c.397G>A p.G133R missense 0.00002471●●●●●●
50. 6631463 c.1163G>A p.R388Q missense 0.00002471●●●●●●
51. 6629666 c.298G>A p.G100R missense 0.00002471●●●●●●
52. 6629370 c.184G>A p.V62I missense 0.00002471●●●●●●
53. 6631758 c.1275G>A p.M425I missense 0.00002471●●●●●●
54. 6630960 c.862G>A p.V288I missense 0.00002471●●●●●●
55. 6631742 c.1259_1260delAT p.His420ArgfsTer3 frameshift 0.00002471●●●●●●
56. 6625536 c.35A>G p.N12S missense 0.00002038●●●●●●
57. 6629280 c.94G>A p.D32N missense 0.00001650●●●●●●
58. 6631840 c.1357T>C p.Ter453GlnextTer7 nonsense 0.00001650●●●●●●
59. 6631161 c.979-6C>T splice site 0.00001649●●●●●●
60. 6631711 c.1228C>T p.R410W missense 0.00001649●●●●●●
61. 6631712 c.1229G>A p.R410Q missense 0.00001648●●●●●●
62. 6631393 c.1093C>G p.P365A missense 0.00001648●●●●●●
63. 6631417 c.1117G>A p.A373T missense 0.00001648●●●●●●
64. 6629361 c.175C>T p.R59W missense 0.00001648●●●●●●
65. 6629698 c.330G>A p.W110X nonsense 0.00001648●●●●●●
66. 6629337 c.151G>C p.E51Q missense 0.00001648●●●●●●
67. 6631053 c.955G>A p.A319T missense 0.00001648●●●●●●
68. 6630626 c.715T>C p.C239R missense 0.00001648●●●●●●
69. 6629355 c.169G>C p.G57R missense 0.00001648●●●●●●
70. 6630382 c.613G>A p.G205R missense 0.00001648●●●●●●
71. 6630150 c.484A>G p.I162V missense 0.00001648●●●●●●
72. 6631790 c.1307G>A p.R436Q missense 0.00001648●●●●●●
73. 6630186 c.520C>T p.R174C missense 0.00001648●●●●●●
74. 6630187 c.521G>A p.R174H missense 0.00001648●●●●●●
75. 6631386 c.1086G>C p.Q362H missense 0.00001648●●●●●●
76. 6630349 c.580A>G p.N194D missense 0.00001648●●●●●●
77. 6630633 c.722G>A p.R241Q missense 0.00001648●●●●●●
78. 6630002 c.430_431delCT p.Leu144GlufsTer45 frameshift 0.00001647●●●●●●
79. 6630291 c.533-11C>T splice site 0.00001647●●●●●●
80. 6631048 c.950G>A p.R317Q missense 0.00001647●●●●●●
81. 6630963 c.865G>A p.V289M missense 0.00001647●●●●●●
82. 6625591 c.89+1G>T essential splice site 0.00001458●●●●●●
83. 6625574 c.73A>G p.N25D missense 0.00001263●●●●●●
84. 6625556 c.55T>C p.W19R missense 0.00001090●●●●●●
85. 6625548 c.47delT p.Arg17AlafsTer37 frameshift 0.00001045●●●●●●
86. 6625544 c.43G>A p.A15T missense 0.00001035●●●●●●
87. 6625511 c.10A>G p.I4V missense 0.00001026●●●●●●
88. 6625514 c.13T>A p.F5I missense 0.00001021●●●●●●
89. 6625527 c.26G>A p.R9Q missense 0.00001011●●●●●●
90. 6630012 c.440T>C p.L147P missense 0.00000826●●●●●●
91. 6629271 c.90-5C>T splice site 0.00000826●●●●●●
92. 6631159 c.979-8T>C splice site 0.00000825●●●●●●
93. 6630739 c.729-4C>G splice site 0.00000825●●●●●●
94. 6629308 c.122C>T p.A41V missense 0.00000825●●●●●●
95. 6631813 c.1330C>G p.P444A missense 0.00000824●●●●●●
96. 6630547 c.636G>T p.W212C missense 0.00000824●●●●●●
97. 6630359 c.590C>T p.T197M missense 0.00000824●●●●●●
98. 6630555 c.644A>G p.N215S missense 0.00000824●●●●●●
99. 6631051 c.953A>G p.H318R missense 0.00000824●●●●●●
100. 6631018 c.920T>C p.F307S missense 0.00000824●●●●●●
101. 6629332 c.146T>C p.V49A missense 0.00000824●●●●●●
102. 6630557 c.646G>T p.D216Y missense 0.00000824●●●●●●
103. 6630626 c.715T>G p.C239G missense 0.00000824●●●●●●
104. 6630128 c.462G>T p.K154N missense 0.00000824●●●●●●
105. 6630954 c.857-1G>A essential splice site 0.00000824●●●●●●
106. 6629352 c.166_167insG p.Ala58GlyfsTer11 frameshift 0.00000824●●●●●●
107. 6630184 c.518C>A p.T173N missense 0.00000824●●●●●●
108. 6629949 c.377T>C p.V126A missense 0.00000824●●●●●●
109. 6631236 c.1048A>G p.M350V missense 0.00000824●●●●●●
110. 6629414 c.228T>G p.S76R missense 0.00000824●●●●●●
111. 6629382 c.196G>A p.G66R missense 0.00000824●●●●●●
112. 6630000 c.428C>T p.P143L missense 0.00000824●●●●●●
113. 6631412 c.1112G>A p.R371H missense 0.00000824●●●●●●
114. 6631807 c.1324A>G p.I442V missense 0.00000824●●●●●●
115. 6630988 c.890T>C p.F297S missense 0.00000824●●●●●●
116. 6630158 c.492C>G p.Y164X nonsense 0.00000824●●●●●●
117. 6630642 c.728+3A>G splice site 0.00000824●●●●●●
118. 6630816 c.802A>G p.I268V missense 0.00000824●●●●●●
119. 6630199 c.532+1G>A essential splice site 0.00000824●●●●●●
120. 6630787 c.773A>G p.Q258R missense 0.00000824●●●●●●
121. 6630552 c.641G>A p.G214D missense 0.00000824●●●●●●
122. 6630364 c.595C>T p.L199F missense 0.00000824●●●●●●
123. 6629970 c.398G>C p.G133A missense 0.00000824●●●●●●
124. 6631403 c.1103C>G p.T368R missense 0.00000824●●●●●●
125. 6631041 c.943A>G p.I315V missense 0.00000824●●●●●●
126. 6631435 c.1135G>A p.A379T missense 0.00000824●●●●●●
127. 6631038 c.940C>T p.L314F missense 0.00000824●●●●●●
128. 6630865 c.851G>A p.G284D missense 0.00000824●●●●●●
129. 6631181 c.993G>C p.M331I missense 0.00000824●●●●●●
130. 6630832 c.818C>A p.P273Q missense 0.00000824●●●●●●
131. 6630846 c.832T>C p.Y278H missense 0.00000824●●●●●●
132. 6629966 c.394T>G p.Y132D missense 0.00000824●●●●●●
133. 6631729 c.1246G>A p.G416S missense 0.00000824●●●●●●
134. 6631508 c.1208A>G p.K403R missense 0.00000824●●●●●●
135. 6630314 c.545T>C p.L182P missense 0.00000824●●●●●●
136. 6629392 c.206C>G p.T69S missense 0.00000824●●●●●●
137. 6631255 c.1067T>C p.V356A missense 0.00000824●●●●●●
138. 6629425 c.239G>A p.R80H missense 0.00000824●●●●●●
139. 6631402 c.1102_1105delACAA p.N369Dfs*17 frameshift 0.00000824●●●●●●
140. 6630993 c.895T>G p.L299V missense 0.00000824●●●●●●
141. 6629349 c.163A>T p.M55L missense 0.00000824●●●●●●
142. 6629994 c.422A>G p.K141R missense 0.00000824●●●●●●
143. 6630160 c.494A>T p.K165M missense 0.00000824●●●●●●
144. 6630394 c.618+7C>A splice site 0.00000824●●●●●●
145. 6630817 c.803T>C p.I268T missense 0.00000824●●●●●●
146. 6631066 c.968G>A p.R323H missense 0.00000824●●●●●●
147. 6631450 c.1150G>T p.E384X nonsense 0.00000824●●●●●●
148. 6630181 c.515C>T p.T172I missense 0.00000824●●●●●●
149. 6629681 c.313C>A p.H105N missense 0.00000824●●●●●●
150. 6629948 c.376G>T p.V126F missense 0.00000824●●●●●●
151. 6631170 c.982G>C p.D328H missense 0.00000824●●●●●●
152. 6630378 c.609C>A p.H203Q missense 0.00000824●●●●●●
153. 6631039 c.941T>A p.L314H missense 0.00000824●●●●●●
154. 6631207 c.1019T>G p.V340G missense 0.00000824●●●●●●
155. 6630832 c.818C>T p.P273L missense 0.00000824●●●●●●
156. 6631706 c.1223_1224insC p.Leu409ProfsTer15 frameshift 0.00000824●●●●●●
157. 6630792 c.778C>T p.P260S missense 0.00000824●●●●●●
158. 6630598 c.687_690delAAGG p.Lys231AlafsTer23 frameshift 0.00000824●●●●●●
159. 6630632 c.721C>T p.R241W missense 0.00000824●●●●●●
160. 6629967 c.395A>G p.Y132C missense 0.00000824●●●●●●
161. 6629642 c.274G>A p.D92N missense 0.00000824●●●●●●
162. 6629392 c.206C>T p.T69I missense 0.00000824●●●●●●
163. 6631411 c.1111C>T p.R371C missense 0.00000824●●●●●●
164. 6631265 c.1077A>C p.E359D missense 0.00000824●●●●●●
165. 6631000 c.902T>C p.M301T missense 0.00000824●●●●●●
166. 6629359 c.173C>T p.A58V missense 0.00000824●●●●●●
167. 6629350 c.164T>C p.M55T missense 0.00000824●●●●●●
168. 6630820 c.806C>T p.T269I missense 0.00000824●●●●●●
169. 6630552 c.641G>C p.G214A missense 0.00000824●●●●●●
170. 6630162 c.496G>C p.D166H missense 0.00000824●●●●●●
171. 6630873 c.856+3G>A splice site 0.00000824●●●●●●
172. 6630118 c.452G>A p.R151Q missense 0.00000824●●●●●●
173. 6631460 c.1160C>T p.T387I missense 0.00000824●●●●●●
174. 6630181 c.515C>A p.T172N missense 0.00000824●●●●●●
175. 6629696 c.328T>G p.W110G missense 0.00000824●●●●●●
176. 6630967 c.869A>G p.D290G missense 0.00000824●●●●●●
177. 6629380 c.194G>T p.R65L missense 0.00000824●●●●●●
178. 6629999 c.427C>A p.P143T missense 0.00000824●●●●●●
179. 6631500 c.1200T>G p.I400M missense 0.00000824●●●●●●
180. 6630852 c.838G>A p.V280I missense 0.00000824●●●●●●
181. 6630623 c.712G>C p.E238Q missense 0.00000824●●●●●●
182. 6630978 c.880G>C p.A294P missense 0.00000824●●●●●●
183. 6630808 c.794C>T p.P265L missense 0.00000824●●●●●●
184. 6630156 c.490T>C p.Y164H 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.