CALR3 variants in ExAC

CALR3 gene summary
CALR3 variants in

The table below lists the CALR3 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. 16606940 c.1A>G p.Met1? missense 0.00005564●●●●●●
2. 16606938 c.3G>T p.Met1? missense 0.00001834●●●●●●
3. 16606925 c.16G>A p.V6I missense 0.00003385●●●●●●
4. 16606921 c.20A>C p.Q7P missense 0.00001646●●●●●●
5. 16606920 c.21G>C p.Q7H missense 0.00008195●●●●●●
6. 16606919 c.22C>T p.L8F missense 0.00001631●●●●●●
7. 16606913 c.28G>A p.A10T missense 0.00001606●●●●●●
8. 16606912 c.29C>T p.A10V missense 0.00001619●●●●●●
9. 16606910 c.31A>G p.I11V missense 0.00001588●●●●●●
10. 16606907 c.34T>C p.C12R missense 0.00001575●●●●●●
11. 16606907 c.34T>G p.C12G missense 0.00003150●●●●●●
12. 16606886 c.55G>T p.A19S missense 0.00001690●●●●●●
13. 16606880 c.61G>A p.V21I missense 0.00001823●●●●●●
14. 16606874 c.67T>A p.F23I missense 0.00007633●●●●●●
15. 16606859 c.82C>G p.L28V missense 0.00002163●●●●●●
16. 16606846 c.91+4A>T splice site 0.00002366●●●●●●
17. 16606844 c.91+6G>A splice site 0.00009562●●●●●●
18. 16606670 c.92-7C>G splice site 0.00000826●●●●●●
19. 16606669 c.92-6C>A splice site 0.00000826●●●●●●
20. 16606645 c.110G>A p.W37X nonsense 0.00000824●●●●●●
21. 16606642 c.113T>G p.L38W missense 0.00001648●●●●●●
22. 16606630 c.125A>G p.N42S missense 0.00042020●●●●●●
23. 16606628 c.127G>A p.D43N missense 0.00000824●●●●●●
24. 16606618 c.137T>C p.F46S missense 0.00000824●●●●●●
25. 16606613 c.142C>T p.H48Y missense 0.00004120●●●●●●
26. 16606603 c.152T>G p.L51R missense 0.00000824●●●●●●
27. 16606594 c.161G>A p.G54D missense 0.00000824●●●●●●
28. 16606592 c.163A>G p.K55E missense 0.00004121●●●●●●
29. 16606589 c.166T>C p.F56L missense 0.00000824●●●●●●
30. 16606586 c.169T>C p.Y57H missense 0.00000824●●●●●●
31. 16606585 c.170A>G p.Y57C missense 0.00000824●●●●●●
32. 16606561 c.193+1G>A essential splice site 0.00000827●●●●●●
33. 16606557 c.193+5G>T splice site 0.00000828●●●●●●
34. 16601383 c.194-2A>G essential splice site 0.00000824●●●●●●
35. 16601376 c.199C>T p.Q67X nonsense 0.00000824●●●●●●
36. 16601363 c.212A>G p.N71S missense 0.00000824●●●●●●
37. 16601360 c.215G>A p.G72D missense 0.00018120●●●●●●
38. 16601358 c.217C>G p.R73G missense 0.00001647●●●●●●
39. 16601358 c.217C>T p.R73X nonsense 0.00000824●●●●●●
40. 16601357 c.218G>A p.R73Q missense 0.00003295●●●●●●
41. 16601351 c.224A>G p.Y75C missense 0.00001647●●●●●●
42. 16601344 c.231delC p.Ser78LeufsTer20 frameshift 0.00000824●●●●●●
43. 16601337 c.238C>T p.R80C missense 0.00001647●●●●●●
44. 16601336 c.239G>A p.R80H missense 0.00004118●●●●●●
45. 16601330 c.245A>G p.K82R missense 0.00056831●●●●●●
46. 16601328 c.247C>G p.P83A missense 0.00000824●●●●●●
47. 16601327 c.248C>T p.P83L missense 0.00001647●●●●●●
48. 16601307 c.268A>C p.T90P missense 0.00000824●●●●●●
49. 16601301 c.274G>C p.V92L missense 0.00000824●●●●●●
50. 16601287 c.288delA p.V97*fs*1 frameshift 0.00000824●●●●●●
51. 16601277 c.298G>A p.E100K missense 0.00001647●●●●●●
52. 16601267 c.308T>G p.M103R missense 0.00000824●●●●●●
53. 16601266 c.309G>A p.M103I missense 0.00000824●●●●●●
54. 16601263 c.312C>A p.D104E missense 0.00001647●●●●●●
55. 16601261 c.314G>A p.C105Y missense 0.00000824●●●●●●
56. 16601256 c.319G>T p.G107W missense 0.00000824●●●●●●
57. 16601252 c.323G>C p.G108A missense 0.00002471●●●●●●
58. 16601249 c.326A>G p.Y109C missense 0.00000824●●●●●●
59. 16601240 c.335T>C p.V112A missense 0.00000824●●●●●●
60. 16601212 c.363C>G p.N121K missense 0.00000824●●●●●●
61. 16601208 c.367A>G p.N123D missense 0.00000824●●●●●●
62. 16601198 c.377C>T p.S126L missense 0.00000824●●●●●●
63. 16601187 c.388A>G p.I130V missense 0.00004119●●●●●●
64. 16601178 c.397G>T p.G133X nonsense 0.00000824●●●●●●
65. 16601168 c.397+10C>T splice site 0.12205555●●●●●●
66. 16601167 c.397+11G>T splice site 0.00001648●●●●●●
67. 16596079 c.398-11C>A splice site 0.00003854●●●●●●
68. 16596074 c.398-6T>C splice site 0.00130117●●●●●●
69. 16596072 c.398-4G>A splice site 0.00009458●●●●●●
70. 16596063 c.403G>A p.D135N missense 0.00010171●●●●●●
71. 16596048 c.418G>T p.D140Y missense 0.00001810●●●●●●
72. 16596044 c.422T>C p.I141T missense 0.00000897●●●●●●
73. 16596011 c.455A>C p.N152T missense 0.00000880●●●●●●
74. 16596001 c.465C>G p.H155Q missense 0.00000882●●●●●●
75. 16595978 c.488G>A p.C163Y missense 0.00000892●●●●●●
76. 16595974 c.492_492+4delGGTAA essential splice site 0.00002706●●●●●●
77. 16595972 c.492+2T>G essential splice site 0.00001796●●●●●●
78. 16595968 c.492+6T>C splice site 0.00000903●●●●●●
79. 16594932 c.493-6A>G splice site 0.00019020●●●●●●
80. 16594926 c.493G>T p.V165F missense 0.00000826●●●●●●
81. 16594919 c.500G>A p.G167D missense 0.00002477●●●●●●
82. 16594919 c.500G>T p.G167V missense 0.00000826●●●●●●
83. 16594911 c.508C>A p.H170N missense 0.00000825●●●●●●
84. 16594911 c.508C>T p.H170Y missense 0.00002475●●●●●●
85. 16594903 c.516C>A p.Tyr172Ter nonsense 0.00000825●●●●●●
86. 16594902 c.517A>G p.T173A missense 0.00000825●●●●●●
87. 16594899 c.520C>A p.L174I missense 0.00003299●●●●●●
88. 16594855 c.564delT p.Gln189SerfsTer8 frameshift 0.00004122●●●●●●
89. 16594852 c.567_570delGTCA p.Ser190LeufsTer6 frameshift 0.00001649●●●●●●
90. 16594839 c.580G>A p.G194S missense 0.00000824●●●●●●
91. 16594818 c.601A>C p.N201H missense 0.00000825●●●●●●
92. 16594811 c.608C>T p.T203I missense 0.00000825●●●●●●
93. 16594800 c.619A>G p.K207E missense 0.00001651●●●●●●
94. 16594793 c.626C>T p.T209M missense 0.00000826●●●●●●
95. 16594787 c.632C>T p.P211L missense 0.00000826●●●●●●
96. 16594778 c.641C>G p.S214W missense 0.00001655●●●●●●
97. 16594778 c.641C>T p.S214L missense 0.00002483●●●●●●
98. 16594773 c.646G>A p.D216N missense 0.00000829●●●●●●
99. 16594761 c.658A>G p.T220A missense 0.00000836●●●●●●
100. 16594752 c.667A>G p.N223D missense 0.00002538●●●●●●
101. 16594746 c.673G>T p.A225S missense 0.00000862●●●●●●
102. 16594741 c.678G>T p.Q226H missense 0.00000879●●●●●●
103. 16594741 c.678G>A splice site 0.00000879●●●●●●
104. 16593552 c.723C>A p.S241R missense 0.00000834●●●●●●
105. 16593551 c.724G>A p.D242N missense 0.00009159●●●●●●
106. 16593542 c.733G>A p.G245S missense 0.00002489●●●●●●
107. 16593533 c.742G>A p.D248N missense 0.00000827●●●●●●
108. 16593532 c.743A>C p.D248A missense 0.00000827●●●●●●
109. 16593521 c.754C>T p.P252S missense 0.00000826●●●●●●
110. 16593517 c.758C>T p.A253V missense 0.00000826●●●●●●
111. 16593514 c.761C>T p.P254L missense 0.00017340●●●●●●
112. 16593505 c.770A>C p.Q257P missense 0.00003300●●●●●●
113. 16593489 c.786G>T p.Q262H missense 0.00002473●●●●●●
114. 16593484 c.786+5G>A splice site 0.00000824●●●●●●
115. 16593395 c.787-3C>G splice site 0.00004118●●●●●●
116. 16593392 c.787G>C p.D263H missense 0.00000824●●●●●●
117. 16593391 c.788A>G p.D263G missense 0.00001647●●●●●●
118. 16593390 c.789T>A p.D263E missense 0.00000824●●●●●●
119. 16593388 c.791G>T p.G264V missense 0.00002471●●●●●●
120. 16593379 c.800C>T p.P267L missense 0.00000824●●●●●●
121. 16593375 c.804A>T p.E268D missense 0.00000824●●●●●●
122. 16593359 c.820G>A p.V274I missense 0.03012058●●●●●●
123. 16593347 c.832C>T p.R278C missense 0.00002471●●●●●●
124. 16593341 c.838A>T p.M280L missense 0.00000824●●●●●●
125. 16593331 c.848C>T p.T283I missense 0.00040359●●●●●●
126. 16593329 c.850G>A p.D284N missense 0.00168026●●●●●●
127. 16593320 c.859A>T p.T287S missense 0.00000824●●●●●●
128. 16593319 c.860C>T p.T287M missense 0.00001647●●●●●●
129. 16593316 c.863A>G p.Q288R missense 0.00001647●●●●●●
130. 16593305 c.874T>C p.S292P missense 0.00000824●●●●●●
131. 16593296 c.883G>A p.E295K missense 0.00000824●●●●●●
132. 16593270 c.909G>T p.E303D missense 0.00003295●●●●●●
133. 16591524 c.919-7T>A splice site 0.00000917●●●●●●
134. 16591519 c.919-2A>C essential splice site 0.00001795●●●●●●
135. 16591513 c.923G>T p.R308I missense 0.00003503●●●●●●
136. 16591496 c.940G>T p.D314Y missense 0.00000845●●●●●●
137. 16591475 c.961G>A p.D321N missense 0.00000832●●●●●●
138. 16591467 c.969G>C p.E323D missense 0.00001659●●●●●●
139. 16591464 c.972C>A p.Y324X nonsense 0.00000825●●●●●●
140. 16591459 c.977A>G p.D326G missense 0.00000826●●●●●●
141. 16591444 c.992C>T p.A331V missense 0.00000827●●●●●●
142. 16591433 c.1003G>A p.E335K missense 0.00000828●●●●●●
143. 16591429 c.1007C>A p.T336N missense 0.00001656●●●●●●
144. 16591425 c.1011G>A splice site 0.00000828●●●●●●
145. 16591418 c.1011+7A>G splice site 0.00000830●●●●●●
146. 16590094 c.1012-9T>C splice site 0.00089845●●●●●●
147. 16590087 c.1012-2A>T essential splice site 0.00000824●●●●●●
148. 16590069 c.1028T>C p.M343T missense 0.00003295●●●●●●
149. 16590068 c.1029G>A p.M343I missense 0.00000824●●●●●●
150. 16590061 c.1036A>G p.I346V missense 0.00001647●●●●●●
151. 16590058 c.1039C>T p.Q347X nonsense 0.00000824●●●●●●
152. 16590038 c.1059G>C p.K353N missense 0.00000824●●●●●●
153. 16590031 c.1066C>T p.R356C missense 0.00004118●●●●●●
154. 16590031 c.1066C>G p.R356G missense 0.00000824●●●●●●
155. 16590030 c.1067G>T p.R356L missense 0.00220743●●●●●●
156. 16590030 c.1067G>A p.R356H missense 0.00001647●●●●●●
157. 16590028 c.1069G>A p.E357K missense 0.00005766●●●●●●
158. 16590010 c.1087C>G p.L363V missense 0.00001647●●●●●●
159. 16590010 c.1087C>A p.L363M missense 0.00000824●●●●●●
160. 16590003 c.1094C>T p.S365L missense 0.00002471●●●●●●
161. 16589983 c.1114G>C p.E372Q missense 0.00025534●●●●●●
162. 16589983 c.1114G>A p.E372K missense 0.00002471●●●●●●
163. 16589983 c.1114G>T p.E372X nonsense 0.00002471●●●●●●
164. 16589982 c.1115A>G p.E372G missense 0.00000824●●●●●●
165. 16589968 c.1129C>G p.Q377E missense 0.00000824●●●●●●
166. 16589959 c.1138A>G p.R380G missense 0.00000824●●●●●●
167. 16589951 c.1146T>G p.N382K missense 0.00003295●●●●●●
168. 16589950 c.1147G>A p.E383K missense 0.00000824●●●●●●
169. 16589947 c.1150C>T p.L384F 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.