CASQ2 protein-altering variants in ExAC

CASQ2 gene summary
CASQ2 variants in DCM

The table below lists the CASQ2 protein-altering 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. 116311065 c.98G>A p.R33Q missense 0.00000824●●●●●●
2. 116280886 c.491A>G p.Y164C missense 0.00001647●●●●●●
3. 116247829 c.923C>T p.P308L missense 0.00004119●●●●●●
4. 116247826 c.926A>G p.D309G missense 0.00000824●●●●●●
5. 116243928 c.1134T>A p.D378E missense 0.00000826●●●●●●
6. 116268164 c.748C>T p.R250C missense 0.00004961●●●●●●
7. 116280874 c.503T>C p.I168T missense 0.00001647●●●●●●
8. 116280895 c.482T>C p.I161T missense 0.00001647●●●●●●
9. 116311098 c.65G>A p.G22E missense 0.00000825●●●●●●
10. 116268163 c.749G>T p.R250L missense 0.00000826●●●●●●
11. 116243896 c.1166A>G p.D389G missense 0.00000825●●●●●●
12. 116244010 c.1052A>G p.D351G missense 0.00008304●●●●●●
13. 116244047 c.1015G>A p.A339T missense 0.00000861●●●●●●
14. 116247875 c.877C>T p.R293W missense 0.00004948●●●●●●
15. 116268154 c.758G>A p.R253H missense 0.00008291●●●●●●
16. 116268160 c.752G>A p.R251H missense 0.00002487●●●●●●
17. 116280896 c.481A>C p.I161L missense 0.00000824●●●●●●
18. 116283431 c.338G>A p.S113N missense 0.00004157●●●●●●
19. 116311152 c.11C>T p.T4I missense 0.00000857●●●●●●
20. 116243866 c.1196A>C p.E399A missense 0.00000824●●●●●●
21. 116243876 c.1186G>A p.D396N missense 0.00008381●●●●●●
22. 116243981 c.1081T>A p.W361R missense 0.00000826●●●●●●
23. 116244016 c.1046A>T p.D349V missense 0.00003333●●●●●●
24. 116245585 c.971T>C p.I324T missense 0.00003556●●●●●●
25. 116247854 c.898G>A p.D300N missense 0.00001648●●●●●●
26. 116247874 c.878G>A p.R293Q missense 0.00003299●●●●●●
27. 116247892 c.860T>A p.I287N missense 0.00001655●●●●●●
28. 116269700 c.650A>G p.Y217C missense 0.00001671●●●●●●
29. 116269717 c.633G>T p.M211I missense 0.00000839●●●●●●
30. 116287503 c.265A>G p.I89V missense 0.00000848●●●●●●
31. 116287511 c.257A>G p.H86R missense 0.00000851●●●●●●
32. 116243897 c.1165G>T p.D389Y missense 0.00001651●●●●●●
33. 116244011 c.1051G>A p.D351N missense 0.00001661●●●●●●
34. 116280902 c.475G>C p.E159Q missense 0.00000824●●●●●●
35. 116247859 c.893A>G p.N298S missense 0.00006593●●●●●●
36. 116283408 c.361C>T p.R121C missense 0.00001652●●●●●●
37. 116243879 c.1183G>A p.D395N missense 0.00000825●●●●●●
38. 116243890 c.1172A>G p.D391G missense 0.00000825●●●●●●
39. 116243912 c.1150A>C p.N384H missense 0.00000829●●●●●●
40. 116243914 c.1148A>G p.D383G missense 0.00009129●●●●●●
41. 116243917 c.1145A>G p.D382G missense 0.00000825●●●●●●
42. 116243936 c.1126G>T p.D376Y missense 0.00000825●●●●●●
43. 116243940 c.1122T>A p.D374E missense 0.00000825●●●●●●
44. 116243965 c.1097T>C p.L366P missense 0.00000825●●●●●●
45. 116243969 c.1093G>C p.V365L missense 0.00000825●●●●●●
46. 116244030 c.1032G>A p.M344I missense 0.00000842●●●●●●
47. 116244031 c.1031T>A p.M344K missense 0.00001684●●●●●●
48. 116244040 c.1022G>A p.S341N missense 0.00000852●●●●●●
49. 116245565 c.991A>T p.I331F missense 0.00000879●●●●●●
50. 116245568 c.988C>G p.Q330E missense 0.00002637●●●●●●
51. 116245574 c.982A>G p.R328G missense 0.00001762●●●●●●
52. 116245607 c.949T>C p.Y317H missense 0.00000932●●●●●●
53. 116245609 c.947C>T p.A316V missense 0.00002870●●●●●●
54. 116245613 c.943G>A p.V315I missense 0.00004837●●●●●●
55. 116247819 c.933T>A p.F311L missense 0.00000824●●●●●●
56. 116247826 c.926A>T p.D309V missense 0.00000824●●●●●●
57. 116247833 c.919G>A p.D307N missense 0.00001648●●●●●●
58. 116247854 c.898G>T p.D300Y missense 0.00000824●●●●●●
59. 116247868 c.884A>G p.N295S missense 0.00000824●●●●●●
60. 116247869 c.883A>T p.N295Y missense 0.00000824●●●●●●
61. 116247877 c.875C>A p.A292D missense 0.00000825●●●●●●
62. 116247882 c.870G>T p.Q290H missense 0.00000825●●●●●●
63. 116247883 c.869A>T p.Q290L missense 0.00003302●●●●●●
64. 116247890 c.862C>G p.L288V missense 0.00000827●●●●●●
65. 116247903 c.849A>C p.E283D missense 0.00001670●●●●●●
66. 116260464 c.835C>T p.P279S missense 0.00000824●●●●●●
67. 116260466 c.833A>G p.D278G missense 0.00000824●●●●●●
68. 116260490 c.809T>C p.I270T missense 0.00000824●●●●●●
69. 116260506 c.793T>G p.L265V missense 0.00000824●●●●●●
70. 116268148 c.764A>G p.E255G missense 0.00000825●●●●●●
71. 116268155 c.757C>A p.R253S missense 0.00000825●●●●●●
72. 116268160 c.752G>T p.R251L missense 0.00000829●●●●●●
73. 116268161 c.751C>T p.R251C missense 0.00000826●●●●●●
74. 116268163 c.749G>A p.R250H missense 0.00000826●●●●●●
75. 116268167 c.745C>G p.L249V missense 0.00000829●●●●●●
76. 116268172 c.740C>G p.P247R missense 0.00000837●●●●●●
77. 116268172 c.740C>T p.P247L missense 0.00000837●●●●●●
78. 116268173 c.739C>T p.P247S missense 0.00000841●●●●●●
79. 116269645 c.705G>T p.E235D missense 0.00000845●●●●●●
80. 116269658 c.692C>T p.P231L missense 0.00000840●●●●●●
81. 116269659 c.691C>A p.P231T missense 0.00000839●●●●●●
82. 116269677 c.673A>G p.I225V missense 0.00001673●●●●●●
83. 116269683 c.667G>A p.E223K missense 0.00000836●●●●●●
84. 116269701 c.649T>C p.Y217H missense 0.00000836●●●●●●
85. 116269710 c.640G>T p.V214F missense 0.00000838●●●●●●
86. 116269711 c.639G>C p.E213D missense 0.00000838●●●●●●
87. 116269718 c.632T>C p.M211T missense 0.00000840●●●●●●
88. 116269728 c.622T>C p.S208P missense 0.00000842●●●●●●
89. 116269735 c.615G>T p.K205N missense 0.00002537●●●●●●
90. 116275523 c.605G>C p.G202A missense 0.00000824●●●●●●
91. 116275539 c.589G>T p.A197S missense 0.00000824●●●●●●
92. 116275547 c.581A>C p.K194T missense 0.00000824●●●●●●
93. 116275550 c.578T>A p.I193N missense 0.00000824●●●●●●
94. 116275565 c.563A>G p.H188R missense 0.00001648●●●●●●
95. 116275572 c.556G>A p.A186T missense 0.00000824●●●●●●
96. 116275581 c.547G>A p.E183K missense 0.00000824●●●●●●
97. 116275587 c.541G>C p.A181P missense 0.00000824●●●●●●
98. 116275587 c.541G>A p.A181T missense 0.00000824●●●●●●
99. 116275595 c.533A>G p.Y178C missense 0.00000824●●●●●●
100. 116280881 c.496A>C p.K166Q missense 0.00000824●●●●●●
101. 116280889 c.488A>T p.D163V missense 0.00000824●●●●●●
102. 116280898 c.479G>A p.R160H missense 0.00003295●●●●●●
103. 116280899 c.478C>T p.R160C missense 0.00001647●●●●●●
104. 116280908 c.469G>C p.A157P missense 0.00001647●●●●●●
105. 116280913 c.464T>C p.V155A missense 0.00000824●●●●●●
106. 116280928 c.449G>T p.S150I missense 0.00000824●●●●●●
107. 116280944 c.433C>T p.P145S missense 0.00002471●●●●●●
108. 116280945 c.432C>G p.D144E missense 0.00000824●●●●●●
109. 116283356 c.413T>C p.L138P missense 0.00000826●●●●●●
110. 116283360 c.409T>C p.F137L missense 0.00001651●●●●●●
111. 116283389 c.380G>A p.G127D missense 0.00000826●●●●●●
112. 116283393 c.376G>C p.D126H missense 0.00000826●●●●●●
113. 116283402 c.367A>G p.I123V missense 0.00000826●●●●●●
114. 116283407 c.362G>A p.R121H missense 0.00002478●●●●●●
115. 116283432 c.337A>C p.S113R missense 0.00000831●●●●●●
116. 116283434 c.335G>A p.G112E missense 0.00001665●●●●●●
117. 116287479 c.289A>G p.K97E missense 0.00000841●●●●●●
118. 116287487 c.281T>C p.V94A missense 0.00001685●●●●●●
119. 116287499 c.269G>A p.G90D missense 0.00000846●●●●●●
120. 116287523 c.245A>G p.Q82R missense 0.00000860●●●●●●
121. 116287533 c.235C>T p.L79F missense 0.00000871●●●●●●
122. 116310934 c.229C>T p.L77F missense 0.00000824●●●●●●
123. 116310950 c.213A>C p.Q71H missense 0.00000824●●●●●●
124. 116310951 c.212A>C p.Q71P missense 0.00000824●●●●●●
125. 116310981 c.182C>T p.S61F missense 0.00000824●●●●●●
126. 116310990 c.173A>T p.E58V missense 0.00004942●●●●●●
127. 116311018 c.145T>C p.Y49H missense 0.00000824●●●●●●
128. 116311019 c.144A>C p.K48N missense 0.00003295●●●●●●
129. 116311030 c.133G>T p.V45F missense 0.00000824●●●●●●
130. 116311048 c.115G>A p.E39K missense 0.00004119●●●●●●
131. 116311060 c.103G>C p.V35L missense 0.00002472●●●●●●
132. 116311071 c.92A>G p.K31R missense 0.00000824●●●●●●
133. 116311083 c.80C>T p.T27I missense 0.00000824●●●●●●
134. 116311086 c.77C>T p.P26L missense 0.00000824●●●●●●
135. 116311099 c.64G>A p.G22R missense 0.00000825●●●●●●
136. 116311129 c.34T>A p.Y12N missense 0.00000832●●●●●●
137. 116311145 c.18G>T p.L6F missense 0.00000845●●●●●●
138. 116311148 c.15C>G p.H5Q missense 0.00000848●●●●●●
139. 116311155 c.8G>C p.R3T missense 0.00000865●●●●●●
140. 116311066 c.97C>T p.R33X nonsense 0.00000824●●●●●●
141. 116244034 c.1028G>A p.Trp343Ter nonsense 0.00001695●●●●●●
142. 116310943 c.220G>T p.Glu74Ter nonsense 0.00000824●●●●●●
143. 116268129 c.783G>A p.W261X nonsense 0.00000825●●●●●●
144. 116269617 c.733C>T p.Q245X nonsense 0.00001822●●●●●●
145. 116280902 c.475G>T p.E159X nonsense 0.00001647●●●●●●
146. 116260460 c.838+1G>A essential splice site 0.00000824●●●●●●
147. 116269612 c.737+1G>A essential splice site 0.00000941●●●●●●
148. 116260516 c.784-1G>A essential splice site 0.00000824●●●●●●
149. 116280843 c.532+2T>C essential splice site 0.00000824●●●●●●
150. 116310927 c.234+2T>C essential splice site 0.00003295●●●●●●
151. 116275582 c.546delT frameshift 0.00004945●●●●●●
152. 116269710 c.640delG p.Val214LeufsTer28 frameshift 0.00000837●●●●●●
153. 116269732 c.618delA p.Lys206AsnfsTer4 frameshift 0.00000844●●●●●●
154. 116275586 c.542_548delCTTTTGA p.Ala181GlufsTer27 frameshift 0.00000824●●●●●●
155. 116275587 c.541delG p.Ala181LeufsTer29 frameshift 0.00000824●●●●●●
156. 116243934 c.1128_1130delTGA p.Asp376del inframe 0.00003305●●●●●●
157. 116243868 c.1194_1196dupTGA p.Asp398dup inframe 0.00000824●●●●●●
158. 116243916 c.1146_1147insGAT p.Asp383dup inframe 0.00003318●●●●●●
159. 116243931 c.1131_1139delAGATGATGA p.Glu377_Asp379del inframe 0.00000825●●●●●●
160. 116243931 c.1131_1133delAGA p.Glu377del inframe 0.00000826●●●●●●

* 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.