CASQ2 non-truncating variants in ExAC

CASQ2 gene summary
CASQ2 variants in DCM

The table below lists the CASQ2 non-truncating variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 116243914 c.1148A>G p.D383G missense 0.00009129●●●●●●
2. 116243876 c.1186G>A p.D396N missense 0.00008381●●●●●●
3. 116244010 c.1052A>G p.D351G missense 0.00008304●●●●●●
4. 116268154 c.758G>A p.R253H missense 0.00008291●●●●●●
5. 116247859 c.893A>G p.N298S missense 0.00006593●●●●●●
6. 116268164 c.748C>T p.R250C missense 0.00004961●●●●●●
7. 116247875 c.877C>T p.R293W missense 0.00004948●●●●●●
8. 116310990 c.173A>T p.E58V missense 0.00004942●●●●●●
9. 116245613 c.943G>A p.V315I missense 0.00004837●●●●●●
10. 116283431 c.338G>A p.S113N missense 0.00004157●●●●●●
11. 116247829 c.923C>T p.P308L missense 0.00004119●●●●●●
12. 116311048 c.115G>A p.E39K missense 0.00004119●●●●●●
13. 116245585 c.971T>C p.I324T missense 0.00003556●●●●●●
14. 116244016 c.1046A>T p.D349V missense 0.00003333●●●●●●
15. 116243916 c.1146_1147insGAT p.Asp383dup inframe 0.00003318●●●●●●
16. 116243934 c.1128_1130delTGA p.Asp376del inframe 0.00003305●●●●●●
17. 116247883 c.869A>T p.Q290L missense 0.00003302●●●●●●
18. 116247874 c.878G>A p.R293Q missense 0.00003299●●●●●●
19. 116311019 c.144A>C p.K48N missense 0.00003295●●●●●●
20. 116280898 c.479G>A p.R160H missense 0.00003295●●●●●●
21. 116245609 c.947C>T p.A316V missense 0.00002870●●●●●●
22. 116245568 c.988C>G p.Q330E missense 0.00002637●●●●●●
23. 116269735 c.615G>T p.K205N missense 0.00002537●●●●●●
24. 116268160 c.752G>A p.R251H missense 0.00002487●●●●●●
25. 116283407 c.362G>A p.R121H missense 0.00002478●●●●●●
26. 116311060 c.103G>C p.V35L missense 0.00002472●●●●●●
27. 116280944 c.433C>T p.P145S missense 0.00002471●●●●●●
28. 116245574 c.982A>G p.R328G missense 0.00001762●●●●●●
29. 116287487 c.281T>C p.V94A missense 0.00001685●●●●●●
30. 116244031 c.1031T>A p.M344K missense 0.00001684●●●●●●
31. 116269677 c.673A>G p.I225V missense 0.00001673●●●●●●
32. 116269700 c.650A>G p.Y217C missense 0.00001671●●●●●●
33. 116247903 c.849A>C p.E283D missense 0.00001670●●●●●●
34. 116283434 c.335G>A p.G112E missense 0.00001665●●●●●●
35. 116244011 c.1051G>A p.D351N missense 0.00001661●●●●●●
36. 116247892 c.860T>A p.I287N missense 0.00001655●●●●●●
37. 116283408 c.361C>T p.R121C missense 0.00001652●●●●●●
38. 116243897 c.1165G>T p.D389Y missense 0.00001651●●●●●●
39. 116283360 c.409T>C p.F137L missense 0.00001651●●●●●●
40. 116247833 c.919G>A p.D307N missense 0.00001648●●●●●●
41. 116275565 c.563A>G p.H188R missense 0.00001648●●●●●●
42. 116247854 c.898G>A p.D300N missense 0.00001648●●●●●●
43. 116280908 c.469G>C p.A157P missense 0.00001647●●●●●●
44. 116280895 c.482T>C p.I161T missense 0.00001647●●●●●●
45. 116280886 c.491A>G p.Y164C missense 0.00001647●●●●●●
46. 116280874 c.503T>C p.I168T missense 0.00001647●●●●●●
47. 116280899 c.478C>T p.R160C missense 0.00001647●●●●●●
48. 116245607 c.949T>C p.Y317H missense 0.00000932●●●●●●
49. 116245565 c.991A>T p.I331F missense 0.00000879●●●●●●
50. 116287533 c.235C>T p.L79F missense 0.00000871●●●●●●
51. 116311155 c.8G>C p.R3T missense 0.00000865●●●●●●
52. 116244047 c.1015G>A p.A339T missense 0.00000861●●●●●●
53. 116287523 c.245A>G p.Q82R missense 0.00000860●●●●●●
54. 116311152 c.11C>T p.T4I missense 0.00000857●●●●●●
55. 116244040 c.1022G>A p.S341N missense 0.00000852●●●●●●
56. 116287511 c.257A>G p.H86R missense 0.00000851●●●●●●
57. 116287503 c.265A>G p.I89V missense 0.00000848●●●●●●
58. 116311148 c.15C>G p.H5Q missense 0.00000848●●●●●●
59. 116287499 c.269G>A p.G90D missense 0.00000846●●●●●●
60. 116311145 c.18G>T p.L6F missense 0.00000845●●●●●●
61. 116269645 c.705G>T p.E235D missense 0.00000845●●●●●●
62. 116269728 c.622T>C p.S208P missense 0.00000842●●●●●●
63. 116244030 c.1032G>A p.M344I missense 0.00000842●●●●●●
64. 116287479 c.289A>G p.K97E missense 0.00000841●●●●●●
65. 116268173 c.739C>T p.P247S missense 0.00000841●●●●●●
66. 116269718 c.632T>C p.M211T missense 0.00000840●●●●●●
67. 116269658 c.692C>T p.P231L missense 0.00000840●●●●●●
68. 116269659 c.691C>A p.P231T missense 0.00000839●●●●●●
69. 116269717 c.633G>T p.M211I missense 0.00000839●●●●●●
70. 116269710 c.640G>T p.V214F missense 0.00000838●●●●●●
71. 116269711 c.639G>C p.E213D missense 0.00000838●●●●●●
72. 116268172 c.740C>T p.P247L missense 0.00000837●●●●●●
73. 116268172 c.740C>G p.P247R missense 0.00000837●●●●●●
74. 116269701 c.649T>C p.Y217H missense 0.00000836●●●●●●
75. 116269683 c.667G>A p.E223K missense 0.00000836●●●●●●
76. 116311129 c.34T>A p.Y12N missense 0.00000832●●●●●●
77. 116283432 c.337A>C p.S113R missense 0.00000831●●●●●●
78. 116268167 c.745C>G p.L249V missense 0.00000829●●●●●●
79. 116268160 c.752G>T p.R251L missense 0.00000829●●●●●●
80. 116243912 c.1150A>C p.N384H missense 0.00000829●●●●●●
81. 116247890 c.862C>G p.L288V missense 0.00000827●●●●●●
82. 116268163 c.749G>A p.R250H missense 0.00000826●●●●●●
83. 116283389 c.380G>A p.G127D missense 0.00000826●●●●●●
84. 116243928 c.1134T>A p.D378E missense 0.00000826●●●●●●
85. 116283393 c.376G>C p.D126H missense 0.00000826●●●●●●
86. 116243981 c.1081T>A p.W361R missense 0.00000826●●●●●●
87. 116283356 c.413T>C p.L138P missense 0.00000826●●●●●●
88. 116243931 c.1131_1133delAGA p.Glu377del inframe 0.00000826●●●●●●
89. 116283402 c.367A>G p.I123V missense 0.00000826●●●●●●
90. 116268163 c.749G>T p.R250L missense 0.00000826●●●●●●
91. 116268161 c.751C>T p.R251C missense 0.00000826●●●●●●
92. 116243896 c.1166A>G p.D389G missense 0.00000825●●●●●●
93. 116243965 c.1097T>C p.L366P missense 0.00000825●●●●●●
94. 116243879 c.1183G>A p.D395N missense 0.00000825●●●●●●
95. 116268155 c.757C>A p.R253S missense 0.00000825●●●●●●
96. 116247877 c.875C>A p.A292D missense 0.00000825●●●●●●
97. 116243917 c.1145A>G p.D382G missense 0.00000825●●●●●●
98. 116311098 c.65G>A p.G22E missense 0.00000825●●●●●●
99. 116243931 c.1131_1139delAGATGATGA p.Glu377_Asp379del inframe 0.00000825●●●●●●
100. 116311099 c.64G>A p.G22R missense 0.00000825●●●●●●
101. 116243890 c.1172A>G p.D391G missense 0.00000825●●●●●●
102. 116247882 c.870G>T p.Q290H missense 0.00000825●●●●●●
103. 116243969 c.1093G>C p.V365L missense 0.00000825●●●●●●
104. 116243936 c.1126G>T p.D376Y missense 0.00000825●●●●●●
105. 116243940 c.1122T>A p.D374E missense 0.00000825●●●●●●
106. 116268148 c.764A>G p.E255G missense 0.00000825●●●●●●
107. 116311086 c.77C>T p.P26L missense 0.00000824●●●●●●
108. 116275523 c.605G>C p.G202A missense 0.00000824●●●●●●
109. 116311018 c.145T>C p.Y49H missense 0.00000824●●●●●●
110. 116310951 c.212A>C p.Q71P missense 0.00000824●●●●●●
111. 116260466 c.833A>G p.D278G missense 0.00000824●●●●●●
112. 116243866 c.1196A>C p.E399A missense 0.00000824●●●●●●
113. 116280896 c.481A>C p.I161L missense 0.00000824●●●●●●
114. 116311065 c.98G>A p.R33Q missense 0.00000824●●●●●●
115. 116280902 c.475G>C p.E159Q missense 0.00000824●●●●●●
116. 116280889 c.488A>T p.D163V missense 0.00000824●●●●●●
117. 116275587 c.541G>A p.A181T missense 0.00000824●●●●●●
118. 116275539 c.589G>T p.A197S missense 0.00000824●●●●●●
119. 116310981 c.182C>T p.S61F missense 0.00000824●●●●●●
120. 116260490 c.809T>C p.I270T missense 0.00000824●●●●●●
121. 116280913 c.464T>C p.V155A missense 0.00000824●●●●●●
122. 116247854 c.898G>T p.D300Y missense 0.00000824●●●●●●
123. 116280945 c.432C>G p.D144E missense 0.00000824●●●●●●
124. 116275572 c.556G>A p.A186T missense 0.00000824●●●●●●
125. 116311071 c.92A>G p.K31R missense 0.00000824●●●●●●
126. 116310934 c.229C>T p.L77F missense 0.00000824●●●●●●
127. 116247819 c.933T>A p.F311L missense 0.00000824●●●●●●
128. 116275547 c.581A>C p.K194T missense 0.00000824●●●●●●
129. 116311030 c.133G>T p.V45F missense 0.00000824●●●●●●
130. 116260506 c.793T>G p.L265V missense 0.00000824●●●●●●
131. 116280928 c.449G>T p.S150I missense 0.00000824●●●●●●
132. 116247868 c.884A>G p.N295S missense 0.00000824●●●●●●
133. 116275581 c.547G>A p.E183K missense 0.00000824●●●●●●
134. 116275595 c.533A>G p.Y178C missense 0.00000824●●●●●●
135. 116311083 c.80C>T p.T27I missense 0.00000824●●●●●●
136. 116310950 c.213A>C p.Q71H missense 0.00000824●●●●●●
137. 116260464 c.835C>T p.P279S missense 0.00000824●●●●●●
138. 116247826 c.926A>T p.D309V missense 0.00000824●●●●●●
139. 116243868 c.1194_1196dupTGA p.Asp398dup inframe 0.00000824●●●●●●
140. 116275550 c.578T>A p.I193N missense 0.00000824●●●●●●
141. 116247869 c.883A>T p.N295Y missense 0.00000824●●●●●●
142. 116280881 c.496A>C p.K166Q missense 0.00000824●●●●●●
143. 116275587 c.541G>C p.A181P missense 0.00000824●●●●●●
144. 116247826 c.926A>G p.D309G 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.