CASQ2 protein-altering variants in ExAC


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 frequencyPopulations*
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. 116280898 c.479G>A p.R160H missense 0.00003295
21. 116311019 c.144A>C p.K48N missense 0.00003295
22. 116310927 c.234+2T>C essential splice site 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. 116243897 c.1165G>T p.D389Y missense 0.00001651
43. 116283360 c.409T>C p.F137L missense 0.00001651
44. 116247854 c.898G>A p.D300N missense 0.00001648
45. 116275565 c.563A>G p.H188R missense 0.00001648
46. 116247833 c.919G>A p.D307N missense 0.00001648
47. 116280899 c.478C>T p.R160C missense 0.00001647
48. 116280874 c.503T>C p.I168T missense 0.00001647
49. 116280902 c.475G>T p.E159X nonsense 0.00001647
50. 116280895 c.482T>C p.I161T missense 0.00001647
51. 116280886 c.491A>G p.Y164C missense 0.00001647
52. 116280908 c.469G>C p.A157P 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. 116269728 c.622T>C p.S208P missense 0.00000842
70. 116244030 c.1032G>A p.M344I missense 0.00000842
71. 116287479 c.289A>G p.K97E missense 0.00000841
72. 116268173 c.739C>T p.P247S missense 0.00000841
73. 116269718 c.632T>C p.M211T missense 0.00000840
74. 116269658 c.692C>T p.P231L 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. 116269710 c.640delG p.Val214LeufsTer28 frameshift 0.00000837
80. 116268172 c.740C>G p.P247R missense 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. 116268167 c.745C>G p.L249V missense 0.00000829
87. 116268160 c.752G>T p.R251L missense 0.00000829
88. 116243912 c.1150A>C p.N384H missense 0.00000829
89. 116247890 c.862C>G p.L288V missense 0.00000827
90. 116283393 c.376G>C p.D126H missense 0.00000826
91. 116283356 c.413T>C p.L138P missense 0.00000826
92. 116243981 c.1081T>A p.W361R missense 0.00000826
93. 116283402 c.367A>G p.I123V missense 0.00000826
94. 116268163 c.749G>T p.R250L missense 0.00000826
95. 116268161 c.751C>T p.R251C missense 0.00000826
96. 116243928 c.1134T>A p.D378E missense 0.00000826
97. 116243931 c.1131_1133delAGA p.Glu377del inframe 0.00000826
98. 116283389 c.380G>A p.G127D missense 0.00000826
99. 116268163 c.749G>A p.R250H missense 0.00000826
100. 116268155 c.757C>A p.R253S missense 0.00000825
101. 116243965 c.1097T>C p.L366P missense 0.00000825
102. 116243879 c.1183G>A p.D395N missense 0.00000825
103. 116247882 c.870G>T p.Q290H missense 0.00000825
104. 116243917 c.1145A>G p.D382G missense 0.00000825
105. 116243969 c.1093G>C p.V365L missense 0.00000825
106. 116243890 c.1172A>G p.D391G missense 0.00000825
107. 116268129 c.783G>A p.W261X nonsense 0.00000825
108. 116243931 c.1131_1139delAGATGATGA p.Glu377_Asp379del inframe 0.00000825
109. 116243936 c.1126G>T p.D376Y missense 0.00000825
110. 116311099 c.64G>A p.G22R missense 0.00000825
111. 116243896 c.1166A>G p.D389G missense 0.00000825
112. 116268148 c.764A>G p.E255G missense 0.00000825
113. 116243940 c.1122T>A p.D374E missense 0.00000825
114. 116311098 c.65G>A p.G22E missense 0.00000825
115. 116247877 c.875C>A p.A292D missense 0.00000825
116. 116311083 c.80C>T p.T27I missense 0.00000824
117. 116275572 c.556G>A p.A186T missense 0.00000824
118. 116311065 c.98G>A p.R33Q missense 0.00000824
119. 116247854 c.898G>T p.D300Y missense 0.00000824
120. 116260516 c.784-1G>A essential splice site 0.00000824
121. 116280913 c.464T>C p.V155A missense 0.00000824
122. 116260506 c.793T>G p.L265V missense 0.00000824
123. 116260460 c.838+1G>A essential splice site 0.00000824
124. 116275595 c.533A>G p.Y178C missense 0.00000824
125. 116275547 c.581A>C p.K194T missense 0.00000824
126. 116310950 c.213A>C p.Q71H missense 0.00000824
127. 116247826 c.926A>G p.D309G missense 0.00000824
128. 116247819 c.933T>A p.F311L missense 0.00000824
129. 116275587 c.541delG p.Ala181LeufsTer29 frameshift 0.00000824
130. 116311086 c.77C>T p.P26L missense 0.00000824
131. 116275581 c.547G>A p.E183K missense 0.00000824
132. 116311018 c.145T>C p.Y49H missense 0.00000824
133. 116260464 c.835C>T p.P279S missense 0.00000824
134. 116247868 c.884A>G p.N295S missense 0.00000824
135. 116311066 c.97C>T p.R33X nonsense 0.00000824
136. 116280928 c.449G>T p.S150I missense 0.00000824
137. 116280881 c.496A>C p.K166Q missense 0.00000824
138. 116275550 c.578T>A p.I193N missense 0.00000824
139. 116310951 c.212A>C p.Q71P missense 0.00000824
140. 116247826 c.926A>T p.D309V missense 0.00000824
141. 116280843 c.532+2T>C essential splice site 0.00000824
142. 116275587 c.541G>C p.A181P missense 0.00000824
143. 116260466 c.833A>G p.D278G missense 0.00000824
144. 116247869 c.883A>T p.N295Y missense 0.00000824
145. 116275523 c.605G>C p.G202A missense 0.00000824
146. 116280896 c.481A>C p.I161L missense 0.00000824
147. 116280889 c.488A>T p.D163V missense 0.00000824
148. 116311071 c.92A>G p.K31R missense 0.00000824
149. 116310981 c.182C>T p.S61F missense 0.00000824
150. 116280902 c.475G>C p.E159Q missense 0.00000824
151. 116243866 c.1196A>C p.E399A missense 0.00000824
152. 116311030 c.133G>T p.V45F missense 0.00000824
153. 116260490 c.809T>C p.I270T missense 0.00000824
154. 116275587 c.541G>A p.A181T missense 0.00000824
155. 116310943 c.220G>T p.Glu74Ter nonsense 0.00000824
156. 116310934 c.229C>T p.L77F missense 0.00000824
157. 116275539 c.589G>T p.A197S missense 0.00000824
158. 116275586 c.542_548delCTTTTGA p.Ala181GlufsTer27 frameshift 0.00000824
159. 116280945 c.432C>G p.D144E missense 0.00000824
160. 116243868 c.1194_1196dupTGA p.Asp398dup inframe 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.