CASQ2 missense variants in ExAC

CASQ2 gene summary
CASQ2 variants in DCM

The table below lists the CASQ2 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. 116310967 c.196A>G p.T66A missense 0.32650136●●●●●●
2. 116310937 c.226G>A p.V76M missense 0.02505849●●●●●●
3. 116269619 c.731A>G p.H244R missense 0.00829226●●●●●●
4. 116275561 c.567C>G p.F189L missense 0.00069217●●●●●●
5. 116247824 c.928G>A p.D310N missense 0.00063438●●●●●●
6. 116280896 c.481A>G p.I161V missense 0.00058480●●●●●●
7. 116245571 c.985C>T p.P329S missense 0.00035216●●●●●●
8. 116247878 c.874G>T p.A292S missense 0.00023925●●●●●●
9. 116280902 c.475G>A p.E159K missense 0.00023886●●●●●●
10. 116269620 c.730C>T p.H244Y missense 0.00023270●●●●●●
11. 116243931 c.1131A>T p.E377D missense 0.00015699●●●●●●
12. 116243914 c.1148A>G p.D383G missense 0.00009129●●●●●●
13. 116243876 c.1186G>A p.D396N missense 0.00008381●●●●●●
14. 116244010 c.1052A>G p.D351G missense 0.00008304●●●●●●
15. 116268154 c.758G>A p.R253H missense 0.00008291●●●●●●
16. 116247859 c.893A>G p.N298S missense 0.00006593●●●●●●
17. 116268164 c.748C>T p.R250C missense 0.00004961●●●●●●
18. 116247875 c.877C>T p.R293W missense 0.00004948●●●●●●
19. 116310990 c.173A>T p.E58V missense 0.00004942●●●●●●
20. 116245613 c.943G>A p.V315I missense 0.00004837●●●●●●
21. 116283431 c.338G>A p.S113N missense 0.00004157●●●●●●
22. 116247829 c.923C>T p.P308L missense 0.00004119●●●●●●
23. 116311048 c.115G>A p.E39K missense 0.00004119●●●●●●
24. 116245585 c.971T>C p.I324T missense 0.00003556●●●●●●
25. 116244016 c.1046A>T p.D349V missense 0.00003333●●●●●●
26. 116247883 c.869A>T p.Q290L missense 0.00003302●●●●●●
27. 116247874 c.878G>A p.R293Q missense 0.00003299●●●●●●
28. 116311019 c.144A>C p.K48N missense 0.00003295●●●●●●
29. 116280898 c.479G>A p.R160H missense 0.00003295●●●●●●
30. 116245609 c.947C>T p.A316V missense 0.00002870●●●●●●
31. 116245568 c.988C>G p.Q330E missense 0.00002637●●●●●●
32. 116269735 c.615G>T p.K205N missense 0.00002537●●●●●●
33. 116268160 c.752G>A p.R251H missense 0.00002487●●●●●●
34. 116283407 c.362G>A p.R121H missense 0.00002478●●●●●●
35. 116311060 c.103G>C p.V35L missense 0.00002472●●●●●●
36. 116280944 c.433C>T p.P145S missense 0.00002471●●●●●●
37. 116245574 c.982A>G p.R328G missense 0.00001762●●●●●●
38. 116287487 c.281T>C p.V94A missense 0.00001685●●●●●●
39. 116244031 c.1031T>A p.M344K missense 0.00001684●●●●●●
40. 116269677 c.673A>G p.I225V missense 0.00001673●●●●●●
41. 116269700 c.650A>G p.Y217C missense 0.00001671●●●●●●
42. 116247903 c.849A>C p.E283D missense 0.00001670●●●●●●
43. 116283434 c.335G>A p.G112E missense 0.00001665●●●●●●
44. 116244011 c.1051G>A p.D351N missense 0.00001661●●●●●●
45. 116247892 c.860T>A p.I287N missense 0.00001655●●●●●●
46. 116283408 c.361C>T p.R121C missense 0.00001652●●●●●●
47. 116283360 c.409T>C p.F137L missense 0.00001651●●●●●●
48. 116243897 c.1165G>T p.D389Y missense 0.00001651●●●●●●
49. 116247833 c.919G>A p.D307N missense 0.00001648●●●●●●
50. 116275565 c.563A>G p.H188R missense 0.00001648●●●●●●
51. 116247854 c.898G>A p.D300N missense 0.00001648●●●●●●
52. 116280908 c.469G>C p.A157P missense 0.00001647●●●●●●
53. 116280874 c.503T>C p.I168T missense 0.00001647●●●●●●
54. 116280895 c.482T>C p.I161T missense 0.00001647●●●●●●
55. 116280886 c.491A>G p.Y164C missense 0.00001647●●●●●●
56. 116280899 c.478C>T p.R160C missense 0.00001647●●●●●●
57. 116245607 c.949T>C p.Y317H missense 0.00000932●●●●●●
58. 116245565 c.991A>T p.I331F missense 0.00000879●●●●●●
59. 116287533 c.235C>T p.L79F missense 0.00000871●●●●●●
60. 116311155 c.8G>C p.R3T missense 0.00000865●●●●●●
61. 116244047 c.1015G>A p.A339T missense 0.00000861●●●●●●
62. 116287523 c.245A>G p.Q82R missense 0.00000860●●●●●●
63. 116311152 c.11C>T p.T4I missense 0.00000857●●●●●●
64. 116244040 c.1022G>A p.S341N missense 0.00000852●●●●●●
65. 116287511 c.257A>G p.H86R missense 0.00000851●●●●●●
66. 116287503 c.265A>G p.I89V missense 0.00000848●●●●●●
67. 116311148 c.15C>G p.H5Q missense 0.00000848●●●●●●
68. 116287499 c.269G>A p.G90D missense 0.00000846●●●●●●
69. 116311145 c.18G>T p.L6F missense 0.00000845●●●●●●
70. 116269645 c.705G>T p.E235D missense 0.00000845●●●●●●
71. 116269728 c.622T>C p.S208P missense 0.00000842●●●●●●
72. 116244030 c.1032G>A p.M344I missense 0.00000842●●●●●●
73. 116287479 c.289A>G p.K97E missense 0.00000841●●●●●●
74. 116268173 c.739C>T p.P247S missense 0.00000841●●●●●●
75. 116269718 c.632T>C p.M211T missense 0.00000840●●●●●●
76. 116269658 c.692C>T p.P231L missense 0.00000840●●●●●●
77. 116269659 c.691C>A p.P231T missense 0.00000839●●●●●●
78. 116269717 c.633G>T p.M211I missense 0.00000839●●●●●●
79. 116269710 c.640G>T p.V214F missense 0.00000838●●●●●●
80. 116269711 c.639G>C p.E213D missense 0.00000838●●●●●●
81. 116268172 c.740C>T p.P247L missense 0.00000837●●●●●●
82. 116268172 c.740C>G p.P247R missense 0.00000837●●●●●●
83. 116269701 c.649T>C p.Y217H missense 0.00000836●●●●●●
84. 116269683 c.667G>A p.E223K missense 0.00000836●●●●●●
85. 116311129 c.34T>A p.Y12N missense 0.00000832●●●●●●
86. 116283432 c.337A>C p.S113R missense 0.00000831●●●●●●
87. 116268167 c.745C>G p.L249V missense 0.00000829●●●●●●
88. 116268160 c.752G>T p.R251L missense 0.00000829●●●●●●
89. 116243912 c.1150A>C p.N384H missense 0.00000829●●●●●●
90. 116247890 c.862C>G p.L288V missense 0.00000827●●●●●●
91. 116268161 c.751C>T p.R251C missense 0.00000826●●●●●●
92. 116268163 c.749G>A p.R250H missense 0.00000826●●●●●●
93. 116283389 c.380G>A p.G127D missense 0.00000826●●●●●●
94. 116243981 c.1081T>A p.W361R missense 0.00000826●●●●●●
95. 116283393 c.376G>C p.D126H missense 0.00000826●●●●●●
96. 116268163 c.749G>T p.R250L missense 0.00000826●●●●●●
97. 116283356 c.413T>C p.L138P missense 0.00000826●●●●●●
98. 116283402 c.367A>G p.I123V missense 0.00000826●●●●●●
99. 116243928 c.1134T>A p.D378E missense 0.00000826●●●●●●
100. 116268148 c.764A>G p.E255G missense 0.00000825●●●●●●
101. 116311098 c.65G>A p.G22E missense 0.00000825●●●●●●
102. 116243879 c.1183G>A p.D395N missense 0.00000825●●●●●●
103. 116247877 c.875C>A p.A292D missense 0.00000825●●●●●●
104. 116243965 c.1097T>C p.L366P missense 0.00000825●●●●●●
105. 116243917 c.1145A>G p.D382G missense 0.00000825●●●●●●
106. 116268155 c.757C>A p.R253S missense 0.00000825●●●●●●
107. 116243890 c.1172A>G p.D391G missense 0.00000825●●●●●●
108. 116311099 c.64G>A p.G22R missense 0.00000825●●●●●●
109. 116243936 c.1126G>T p.D376Y missense 0.00000825●●●●●●
110. 116243969 c.1093G>C p.V365L missense 0.00000825●●●●●●
111. 116247882 c.870G>T p.Q290H missense 0.00000825●●●●●●
112. 116243896 c.1166A>G p.D389G missense 0.00000825●●●●●●
113. 116243940 c.1122T>A p.D374E missense 0.00000825●●●●●●
114. 116247869 c.883A>T p.N295Y missense 0.00000824●●●●●●
115. 116280881 c.496A>C p.K166Q missense 0.00000824●●●●●●
116. 116275587 c.541G>C p.A181P missense 0.00000824●●●●●●
117. 116275523 c.605G>C p.G202A missense 0.00000824●●●●●●
118. 116311018 c.145T>C p.Y49H missense 0.00000824●●●●●●
119. 116310951 c.212A>C p.Q71P missense 0.00000824●●●●●●
120. 116260466 c.833A>G p.D278G missense 0.00000824●●●●●●
121. 116280902 c.475G>C p.E159Q missense 0.00000824●●●●●●
122. 116311086 c.77C>T p.P26L missense 0.00000824●●●●●●
123. 116280889 c.488A>T p.D163V missense 0.00000824●●●●●●
124. 116275539 c.589G>T p.A197S missense 0.00000824●●●●●●
125. 116260490 c.809T>C p.I270T missense 0.00000824●●●●●●
126. 116280945 c.432C>G p.D144E missense 0.00000824●●●●●●
127. 116280913 c.464T>C p.V155A missense 0.00000824●●●●●●
128. 116247854 c.898G>T p.D300Y missense 0.00000824●●●●●●
129. 116275587 c.541G>A p.A181T missense 0.00000824●●●●●●
130. 116275572 c.556G>A p.A186T missense 0.00000824●●●●●●
131. 116311071 c.92A>G p.K31R missense 0.00000824●●●●●●
132. 116310981 c.182C>T p.S61F missense 0.00000824●●●●●●
133. 116310934 c.229C>T p.L77F missense 0.00000824●●●●●●
134. 116247819 c.933T>A p.F311L missense 0.00000824●●●●●●
135. 116275547 c.581A>C p.K194T missense 0.00000824●●●●●●
136. 116311030 c.133G>T p.V45F missense 0.00000824●●●●●●
137. 116260506 c.793T>G p.L265V missense 0.00000824●●●●●●
138. 116247868 c.884A>G p.N295S missense 0.00000824●●●●●●
139. 116280928 c.449G>T p.S150I missense 0.00000824●●●●●●
140. 116275595 c.533A>G p.Y178C missense 0.00000824●●●●●●
141. 116275581 c.547G>A p.E183K missense 0.00000824●●●●●●
142. 116311083 c.80C>T p.T27I missense 0.00000824●●●●●●
143. 116310950 c.213A>C p.Q71H missense 0.00000824●●●●●●
144. 116260464 c.835C>T p.P279S missense 0.00000824●●●●●●
145. 116243866 c.1196A>C p.E399A missense 0.00000824●●●●●●
146. 116280896 c.481A>C p.I161L missense 0.00000824●●●●●●
147. 116247826 c.926A>T p.D309V missense 0.00000824●●●●●●
148. 116247826 c.926A>G p.D309G missense 0.00000824●●●●●●
149. 116311065 c.98G>A p.R33Q missense 0.00000824●●●●●●
150. 116275550 c.578T>A p.I193N 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.