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