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