CASQ2 variants in ExAC

CASQ2 gene summary
CASQ2 variants in DCM

The table below lists the CASQ2 variants found in the ExAC population database. 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. 116283343 c.420+6T>C splice site 0.78716546●●●●●●
2. 116310967 c.196A>G p.T66A missense 0.32650136●●●●●●
3. 116268184 c.738-10_738-8delTTT splice site 0.12500840●●●●●●
4. 116268184 c.738-10_738-7delTTTT splice site 0.11119328●●●●●●
5. 116268184 c.738-10_738-9delTT splice site 0.10648739●●●●●●
6. 116268184 c.738-10_738-6delTTTTT splice site 0.04504202●●●●●●
7. 116268184 c.738-10_738-5delTTTTTTinsTTTTT splice site 0.03198319●●●●●●
8. 116310937 c.226G>A p.V76M missense 0.02505849●●●●●●
9. 116268184 c.738-10_738-5delTTTTTT splice site 0.01099160●●●●●●
10. 116269619 c.731A>G p.H244R missense 0.00829226●●●●●●
11. 116245533 c.1014+9C>T splice site 0.00668028●●●●●●
12. 116243877 c.1185_1187delCGA p.Asp396del inframe 0.00549260●●●●●●
13. 116275561 c.567C>G p.F189L missense 0.00069217●●●●●●
14. 116247824 c.928G>A p.D310N missense 0.00063438●●●●●●
15. 116280896 c.481A>G p.I161V missense 0.00058480●●●●●●
16. 116243915 c.1147_1149delGAT p.Asp383del inframe 0.00042302●●●●●●
17. 116245571 c.985C>T p.P329S missense 0.00035216●●●●●●
18. 116247878 c.874G>T p.A292S missense 0.00023925●●●●●●
19. 116280902 c.475G>A p.E159K missense 0.00023886●●●●●●
20. 116269620 c.730C>T p.H244Y missense 0.00023270●●●●●●
21. 116243931 c.1131A>T p.E377D missense 0.00015699●●●●●●
22. 116275601 c.533-6C>T splice site 0.00010718●●●●●●
23. 116243914 c.1148A>G p.D383G missense 0.00009129●●●●●●
24. 116243876 c.1186G>A p.D396N missense 0.00008381●●●●●●
25. 116244010 c.1052A>G p.D351G missense 0.00008304●●●●●●
26. 116268154 c.758G>A p.R253H missense 0.00008291●●●●●●
27. 116247859 c.893A>G p.N298S missense 0.00006593●●●●●●
28. 116269607 c.737+6T>A splice site 0.00005922●●●●●●
29. 116268164 c.748C>T p.R250C missense 0.00004961●●●●●●
30. 116247875 c.877C>T p.R293W missense 0.00004948●●●●●●
31. 116275582 c.546delT frameshift 0.00004945●●●●●●
32. 116310990 c.173A>T p.E58V missense 0.00004942●●●●●●
33. 116245613 c.943G>A p.V315I missense 0.00004837●●●●●●
34. 116244050 c.1015-3C>T splice site 0.00004335●●●●●●
35. 116283431 c.338G>A p.S113N missense 0.00004157●●●●●●
36. 116247829 c.923C>T p.P308L missense 0.00004119●●●●●●
37. 116311048 c.115G>A p.E39K missense 0.00004119●●●●●●
38. 116245585 c.971T>C p.I324T missense 0.00003556●●●●●●
39. 116244016 c.1046A>T p.D349V missense 0.00003333●●●●●●
40. 116243916 c.1146_1147insGAT p.Asp383dup inframe 0.00003318●●●●●●
41. 116243934 c.1128_1130delTGA p.Asp376del inframe 0.00003305●●●●●●
42. 116247883 c.869A>T p.Q290L missense 0.00003302●●●●●●
43. 116247874 c.878G>A p.R293Q missense 0.00003299●●●●●●
44. 116280898 c.479G>A p.R160H missense 0.00003295●●●●●●
45. 116311019 c.144A>C p.K48N missense 0.00003295●●●●●●
46. 116280963 c.421-7A>T splice site 0.00003295●●●●●●
47. 116310927 c.234+2T>C essential splice site 0.00003295●●●●●●
48. 116245609 c.947C>T p.A316V missense 0.00002870●●●●●●
49. 116245568 c.988C>G p.Q330E missense 0.00002637●●●●●●
50. 116269735 c.615G>T p.K205N missense 0.00002537●●●●●●
51. 116268160 c.752G>A p.R251H missense 0.00002487●●●●●●
52. 116283407 c.362G>A p.R121H missense 0.00002478●●●●●●
53. 116311060 c.103G>C p.V35L missense 0.00002472●●●●●●
54. 116280944 c.433C>T p.P145S missense 0.00002471●●●●●●
55. 116269607 c.737+6T>C splice site 0.00001974●●●●●●
56. 116269617 c.733C>T p.Q245X nonsense 0.00001822●●●●●●
57. 116245574 c.982A>G p.R328G missense 0.00001762●●●●●●
58. 116269749 c.607-6T>C splice site 0.00001708●●●●●●
59. 116244034 c.1028G>A p.Trp343Ter nonsense 0.00001695●●●●●●
60. 116287487 c.281T>C p.V94A missense 0.00001685●●●●●●
61. 116244031 c.1031T>A p.M344K missense 0.00001684●●●●●●
62. 116269677 c.673A>G p.I225V missense 0.00001673●●●●●●
63. 116269700 c.650A>G p.Y217C missense 0.00001671●●●●●●
64. 116247903 c.849A>C p.E283D missense 0.00001670●●●●●●
65. 116283434 c.335G>A p.G112E missense 0.00001665●●●●●●
66. 116244011 c.1051G>A p.D351N missense 0.00001661●●●●●●
67. 116247892 c.860T>A p.I287N missense 0.00001655●●●●●●
68. 116283408 c.361C>T p.R121C missense 0.00001652●●●●●●
69. 116243897 c.1165G>T p.D389Y missense 0.00001651●●●●●●
70. 116283360 c.409T>C p.F137L missense 0.00001651●●●●●●
71. 116247833 c.919G>A p.D307N missense 0.00001648●●●●●●
72. 116247854 c.898G>A p.D300N missense 0.00001648●●●●●●
73. 116275565 c.563A>G p.H188R missense 0.00001648●●●●●●
74. 116280908 c.469G>C p.A157P missense 0.00001647●●●●●●
75. 116280874 c.503T>C p.I168T missense 0.00001647●●●●●●
76. 116280895 c.482T>C p.I161T missense 0.00001647●●●●●●
77. 116280899 c.478C>T p.R160C missense 0.00001647●●●●●●
78. 116280902 c.475G>T p.E159X nonsense 0.00001647●●●●●●
79. 116280886 c.491A>G p.Y164C missense 0.00001647●●●●●●
80. 116269612 c.737+1G>A essential splice site 0.00000941●●●●●●
81. 116245607 c.949T>C p.Y317H missense 0.00000932●●●●●●
82. 116245534 c.1014+8T>A splice site 0.00000909●●●●●●
83. 116245537 c.1014+5G>C splice site 0.00000905●●●●●●
84. 116245565 c.991A>T p.I331F missense 0.00000879●●●●●●
85. 116247921 c.839-8T>A splice site 0.00000873●●●●●●
86. 116287533 c.235C>T p.L79F missense 0.00000871●●●●●●
87. 116311155 c.8G>C p.R3T missense 0.00000865●●●●●●
88. 116244047 c.1015G>A p.A339T missense 0.00000861●●●●●●
89. 116287523 c.245A>G p.Q82R missense 0.00000860●●●●●●
90. 116311152 c.11C>T p.T4I missense 0.00000857●●●●●●
91. 116269748 c.607-5T>A splice site 0.00000854●●●●●●
92. 116283459 c.320-10T>C splice site 0.00000854●●●●●●
93. 116244040 c.1022G>A p.S341N missense 0.00000852●●●●●●
94. 116287511 c.257A>G p.H86R missense 0.00000851●●●●●●
95. 116311148 c.15C>G p.H5Q missense 0.00000848●●●●●●
96. 116287503 c.265A>G p.I89V missense 0.00000848●●●●●●
97. 116287499 c.269G>A p.G90D missense 0.00000846●●●●●●
98. 116311145 c.18G>T p.L6F missense 0.00000845●●●●●●
99. 116269645 c.705G>T p.E235D missense 0.00000845●●●●●●
100. 116269732 c.618delA p.Lys206AsnfsTer4 frameshift 0.00000844●●●●●●
101. 116269728 c.622T>C p.S208P missense 0.00000842●●●●●●
102. 116244030 c.1032G>A p.M344I missense 0.00000842●●●●●●
103. 116287479 c.289A>G p.K97E missense 0.00000841●●●●●●
104. 116268173 c.739C>T p.P247S missense 0.00000841●●●●●●
105. 116269658 c.692C>T p.P231L missense 0.00000840●●●●●●
106. 116269718 c.632T>C p.M211T missense 0.00000840●●●●●●
107. 116269659 c.691C>A p.P231T missense 0.00000839●●●●●●
108. 116269717 c.633G>T p.M211I missense 0.00000839●●●●●●
109. 116269710 c.640G>T p.V214F missense 0.00000838●●●●●●
110. 116269711 c.639G>C p.E213D missense 0.00000838●●●●●●
111. 116268172 c.740C>G p.P247R missense 0.00000837●●●●●●
112. 116269710 c.640delG p.Val214LeufsTer28 frameshift 0.00000837●●●●●●
113. 116268172 c.740C>T p.P247L missense 0.00000837●●●●●●
114. 116269683 c.667G>A p.E223K missense 0.00000836●●●●●●
115. 116269701 c.649T>C p.Y217H missense 0.00000836●●●●●●
116. 116311129 c.34T>A p.Y12N missense 0.00000832●●●●●●
117. 116283432 c.337A>C p.S113R missense 0.00000831●●●●●●
118. 116243912 c.1150A>C p.N384H missense 0.00000829●●●●●●
119. 116268167 c.745C>G p.L249V missense 0.00000829●●●●●●
120. 116268160 c.752G>T p.R251L missense 0.00000829●●●●●●
121. 116247890 c.862C>G p.L288V missense 0.00000827●●●●●●
122. 116283389 c.380G>A p.G127D missense 0.00000826●●●●●●
123. 116268161 c.751C>T p.R251C missense 0.00000826●●●●●●
124. 116243981 c.1081T>A p.W361R missense 0.00000826●●●●●●
125. 116283393 c.376G>C p.D126H missense 0.00000826●●●●●●
126. 116268163 c.749G>T p.R250L missense 0.00000826●●●●●●
127. 116243928 c.1134T>A p.D378E missense 0.00000826●●●●●●
128. 116268163 c.749G>A p.R250H missense 0.00000826●●●●●●
129. 116283356 c.413T>C p.L138P missense 0.00000826●●●●●●
130. 116283402 c.367A>G p.I123V missense 0.00000826●●●●●●
131. 116243931 c.1131_1133delAGA p.Glu377del inframe 0.00000826●●●●●●
132. 116243940 c.1122T>A p.D374E missense 0.00000825●●●●●●
133. 116311098 c.65G>A p.G22E missense 0.00000825●●●●●●
134. 116268129 c.783G>A p.W261X nonsense 0.00000825●●●●●●
135. 116243879 c.1183G>A p.D395N missense 0.00000825●●●●●●
136. 116243965 c.1097T>C p.L366P missense 0.00000825●●●●●●
137. 116268148 c.764A>G p.E255G missense 0.00000825●●●●●●
138. 116247877 c.875C>A p.A292D missense 0.00000825●●●●●●
139. 116243931 c.1131_1139delAGATGATGA p.Glu377_Asp379del inframe 0.00000825●●●●●●
140. 116311099 c.64G>A p.G22R missense 0.00000825●●●●●●
141. 116243917 c.1145A>G p.D382G missense 0.00000825●●●●●●
142. 116243969 c.1093G>C p.V365L missense 0.00000825●●●●●●
143. 116243890 c.1172A>G p.D391G missense 0.00000825●●●●●●
144. 116268155 c.757C>A p.R253S missense 0.00000825●●●●●●
145. 116247882 c.870G>T p.Q290H missense 0.00000825●●●●●●
146. 116243936 c.1126G>T p.D376Y missense 0.00000825●●●●●●
147. 116243896 c.1166A>G p.D389G missense 0.00000825●●●●●●
148. 116275586 c.542_548delCTTTTGA p.Ala181GlufsTer27 frameshift 0.00000824●●●●●●
149. 116280889 c.488A>T p.D163V missense 0.00000824●●●●●●
150. 116247826 c.926A>T p.D309V missense 0.00000824●●●●●●
151. 116275587 c.541G>A p.A181T missense 0.00000824●●●●●●
152. 116275539 c.589G>T p.A197S missense 0.00000824●●●●●●
153. 116310943 c.220G>T p.Glu74Ter nonsense 0.00000824●●●●●●
154. 116247826 c.926A>G p.D309G missense 0.00000824●●●●●●
155. 116311018 c.145T>C p.Y49H missense 0.00000824●●●●●●
156. 116310951 c.212A>C p.Q71P missense 0.00000824●●●●●●
157. 116311066 c.97C>T p.R33X nonsense 0.00000824●●●●●●
158. 116247869 c.883A>T p.N295Y missense 0.00000824●●●●●●
159. 116260516 c.784-1G>A essential splice site 0.00000824●●●●●●
160. 116275572 c.556G>A p.A186T missense 0.00000824●●●●●●
161. 116311086 c.77C>T p.P26L missense 0.00000824●●●●●●
162. 116260466 c.833A>G p.D278G missense 0.00000824●●●●●●
163. 116275587 c.541delG p.Ala181LeufsTer29 frameshift 0.00000824●●●●●●
164. 116280896 c.481A>C p.I161L missense 0.00000824●●●●●●
165. 116275547 c.581A>C p.K194T missense 0.00000824●●●●●●
166. 116260460 c.838+1G>A essential splice site 0.00000824●●●●●●
167. 116280954 c.423A>G splice site 0.00000824●●●●●●
168. 116280945 c.432C>G p.D144E missense 0.00000824●●●●●●
169. 116280913 c.464T>C p.V155A missense 0.00000824●●●●●●
170. 116275581 c.547G>A p.E183K missense 0.00000824●●●●●●
171. 116275595 c.533A>G p.Y178C missense 0.00000824●●●●●●
172. 116311071 c.92A>G p.K31R missense 0.00000824●●●●●●
173. 116310981 c.182C>T p.S61F missense 0.00000824●●●●●●
174. 116310934 c.229C>T p.L77F missense 0.00000824●●●●●●
175. 116260490 c.809T>C p.I270T missense 0.00000824●●●●●●
176. 116247819 c.933T>A p.F311L missense 0.00000824●●●●●●
177. 116280843 c.532+2T>C essential splice site 0.00000824●●●●●●
178. 116247854 c.898G>T p.D300Y missense 0.00000824●●●●●●
179. 116247808 c.939+5G>C splice site 0.00000824●●●●●●
180. 116275550 c.578T>A p.I193N missense 0.00000824●●●●●●
181. 116311030 c.133G>T p.V45F missense 0.00000824●●●●●●
182. 116280928 c.449G>T p.S150I missense 0.00000824●●●●●●
183. 116280881 c.496A>C p.K166Q missense 0.00000824●●●●●●
184. 116275587 c.541G>C p.A181P missense 0.00000824●●●●●●
185. 116311083 c.80C>T p.T27I missense 0.00000824●●●●●●
186. 116275523 c.605G>C p.G202A missense 0.00000824●●●●●●
187. 116310950 c.213A>C p.Q71H missense 0.00000824●●●●●●
188. 116260506 c.793T>G p.L265V missense 0.00000824●●●●●●
189. 116311065 c.98G>A p.R33Q missense 0.00000824●●●●●●
190. 116247868 c.884A>G p.N295S missense 0.00000824●●●●●●
191. 116243866 c.1196A>C p.E399A missense 0.00000824●●●●●●
192. 116247806 c.939+7G>T splice site 0.00000824●●●●●●
193. 116243868 c.1194_1196dupTGA p.Asp398dup inframe 0.00000824●●●●●●
194. 116280902 c.475G>C p.E159Q missense 0.00000824●●●●●●
195. 116310926 c.234+3A>G splice site 0.00000824●●●●●●
196. 116260464 c.835C>T p.P279S 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.