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. 116310927 c.234+2T>C essential splice site 0.00003295●●●●●●
47. 116280963 c.421-7A>T 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. 116247854 c.898G>A p.D300N missense 0.00001648●●●●●●
72. 116247833 c.919G>A p.D307N missense 0.00001648●●●●●●
73. 116275565 c.563A>G p.H188R missense 0.00001648●●●●●●
74. 116280886 c.491A>G p.Y164C 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. 116280908 c.469G>C p.A157P 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. 116283459 c.320-10T>C splice site 0.00000854●●●●●●
92. 116269748 c.607-5T>A 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. 116287503 c.265A>G p.I89V missense 0.00000848●●●●●●
96. 116311148 c.15C>G p.H5Q missense 0.00000848●●●●●●
97. 116287499 c.269G>A p.G90D missense 0.00000846●●●●●●
98. 116269645 c.705G>T p.E235D missense 0.00000845●●●●●●
99. 116311145 c.18G>T p.L6F missense 0.00000845●●●●●●
100. 116269732 c.618delA p.Lys206AsnfsTer4 frameshift 0.00000844●●●●●●
101. 116244030 c.1032G>A p.M344I missense 0.00000842●●●●●●
102. 116269728 c.622T>C p.S208P missense 0.00000842●●●●●●
103. 116268173 c.739C>T p.P247S missense 0.00000841●●●●●●
104. 116287479 c.289A>G p.K97E missense 0.00000841●●●●●●
105. 116269658 c.692C>T p.P231L missense 0.00000840●●●●●●
106. 116269718 c.632T>C p.M211T missense 0.00000840●●●●●●
107. 116269717 c.633G>T p.M211I missense 0.00000839●●●●●●
108. 116269659 c.691C>A p.P231T 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. 116268172 c.740C>T p.P247L missense 0.00000837●●●●●●
113. 116269710 c.640delG p.Val214LeufsTer28 frameshift 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. 116268160 c.752G>T p.R251L missense 0.00000829●●●●●●
120. 116268167 c.745C>G p.L249V missense 0.00000829●●●●●●
121. 116247890 c.862C>G p.L288V missense 0.00000827●●●●●●
122. 116243928 c.1134T>A p.D378E missense 0.00000826●●●●●●
123. 116268163 c.749G>T p.R250L missense 0.00000826●●●●●●
124. 116243981 c.1081T>A p.W361R missense 0.00000826●●●●●●
125. 116268161 c.751C>T p.R251C missense 0.00000826●●●●●●
126. 116268163 c.749G>A p.R250H missense 0.00000826●●●●●●
127. 116283356 c.413T>C p.L138P missense 0.00000826●●●●●●
128. 116283389 c.380G>A p.G127D missense 0.00000826●●●●●●
129. 116283393 c.376G>C p.D126H missense 0.00000826●●●●●●
130. 116283402 c.367A>G p.I123V missense 0.00000826●●●●●●
131. 116243931 c.1131_1133delAGA p.Glu377del inframe 0.00000826●●●●●●
132. 116311098 c.65G>A p.G22E missense 0.00000825●●●●●●
133. 116243896 c.1166A>G p.D389G missense 0.00000825●●●●●●
134. 116243879 c.1183G>A p.D395N missense 0.00000825●●●●●●
135. 116243890 c.1172A>G p.D391G missense 0.00000825●●●●●●
136. 116243917 c.1145A>G p.D382G missense 0.00000825●●●●●●
137. 116243936 c.1126G>T p.D376Y missense 0.00000825●●●●●●
138. 116243940 c.1122T>A p.D374E missense 0.00000825●●●●●●
139. 116243965 c.1097T>C p.L366P missense 0.00000825●●●●●●
140. 116243969 c.1093G>C p.V365L missense 0.00000825●●●●●●
141. 116247877 c.875C>A p.A292D missense 0.00000825●●●●●●
142. 116247882 c.870G>T p.Q290H missense 0.00000825●●●●●●
143. 116268129 c.783G>A p.W261X nonsense 0.00000825●●●●●●
144. 116268148 c.764A>G p.E255G missense 0.00000825●●●●●●
145. 116268155 c.757C>A p.R253S missense 0.00000825●●●●●●
146. 116311099 c.64G>A p.G22R missense 0.00000825●●●●●●
147. 116243931 c.1131_1139delAGATGATGA p.Glu377_Asp379del inframe 0.00000825●●●●●●
148. 116311065 c.98G>A p.R33Q missense 0.00000824●●●●●●
149. 116311066 c.97C>T p.R33X nonsense 0.00000824●●●●●●
150. 116247826 c.926A>G p.D309G missense 0.00000824●●●●●●
151. 116260460 c.838+1G>A essential splice site 0.00000824●●●●●●
152. 116280896 c.481A>C p.I161L missense 0.00000824●●●●●●
153. 116247808 c.939+5G>C splice site 0.00000824●●●●●●
154. 116243866 c.1196A>C p.E399A missense 0.00000824●●●●●●
155. 116280902 c.475G>C p.E159Q missense 0.00000824●●●●●●
156. 116310943 c.220G>T p.Glu74Ter nonsense 0.00000824●●●●●●
157. 116247819 c.933T>A p.F311L missense 0.00000824●●●●●●
158. 116247826 c.926A>T p.D309V missense 0.00000824●●●●●●
159. 116247854 c.898G>T p.D300Y missense 0.00000824●●●●●●
160. 116247868 c.884A>G p.N295S missense 0.00000824●●●●●●
161. 116247869 c.883A>T p.N295Y missense 0.00000824●●●●●●
162. 116260464 c.835C>T p.P279S missense 0.00000824●●●●●●
163. 116260466 c.833A>G p.D278G missense 0.00000824●●●●●●
164. 116260490 c.809T>C p.I270T missense 0.00000824●●●●●●
165. 116260506 c.793T>G p.L265V missense 0.00000824●●●●●●
166. 116275523 c.605G>C p.G202A missense 0.00000824●●●●●●
167. 116275539 c.589G>T p.A197S missense 0.00000824●●●●●●
168. 116275547 c.581A>C p.K194T missense 0.00000824●●●●●●
169. 116275550 c.578T>A p.I193N missense 0.00000824●●●●●●
170. 116275572 c.556G>A p.A186T missense 0.00000824●●●●●●
171. 116275581 c.547G>A p.E183K missense 0.00000824●●●●●●
172. 116275587 c.541G>C p.A181P missense 0.00000824●●●●●●
173. 116275587 c.541G>A p.A181T missense 0.00000824●●●●●●
174. 116275595 c.533A>G p.Y178C missense 0.00000824●●●●●●
175. 116280881 c.496A>C p.K166Q missense 0.00000824●●●●●●
176. 116280889 c.488A>T p.D163V missense 0.00000824●●●●●●
177. 116280913 c.464T>C p.V155A missense 0.00000824●●●●●●
178. 116280928 c.449G>T p.S150I missense 0.00000824●●●●●●
179. 116280945 c.432C>G p.D144E missense 0.00000824●●●●●●
180. 116310934 c.229C>T p.L77F missense 0.00000824●●●●●●
181. 116310950 c.213A>C p.Q71H missense 0.00000824●●●●●●
182. 116310951 c.212A>C p.Q71P missense 0.00000824●●●●●●
183. 116310981 c.182C>T p.S61F missense 0.00000824●●●●●●
184. 116311018 c.145T>C p.Y49H missense 0.00000824●●●●●●
185. 116311030 c.133G>T p.V45F missense 0.00000824●●●●●●
186. 116311071 c.92A>G p.K31R missense 0.00000824●●●●●●
187. 116311083 c.80C>T p.T27I missense 0.00000824●●●●●●
188. 116311086 c.77C>T p.P26L missense 0.00000824●●●●●●
189. 116243868 c.1194_1196dupTGA p.Asp398dup inframe 0.00000824●●●●●●
190. 116260516 c.784-1G>A essential splice site 0.00000824●●●●●●
191. 116275586 c.542_548delCTTTTGA p.Ala181GlufsTer27 frameshift 0.00000824●●●●●●
192. 116275587 c.541delG p.Ala181LeufsTer29 frameshift 0.00000824●●●●●●
193. 116280843 c.532+2T>C essential splice site 0.00000824●●●●●●
194. 116247806 c.939+7G>T splice site 0.00000824●●●●●●
195. 116280954 c.423A>G splice site 0.00000824●●●●●●
196. 116310926 c.234+3A>G splice site 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.