CRELD1 variants in ExAC

CRELD1 gene summary
CRELD1 variants in

The table below lists the CRELD1 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. 9976159 c.37A>G p.M13V missense 0.99158674●●●●●●
2. 9984855 c.912C>T p.L304L splice site 0.00606708●●●●●●
3. 9979713 c.383C>G p.P128R missense 0.00417877●●●●●●
4. 9986249 c.1249A>G p.I417V missense 0.00268343●●●●●●
5. 9982689 c.616G>A p.A206T missense 0.00163205●●●●●●
6. 9979240 c.258-6G>A splice site 0.00090001●●●●●●
7. 9985136 c.985C>T p.R329C missense 0.00063551●●●●●●
8. 9979308 c.320G>A p.R107H missense 0.00058132●●●●●●
9. 9979696 c.369-3C>T splice site 0.00055851●●●●●●
10. 9985083 c.932C>T p.T311I missense 0.00039711●●●●●●
11. 9985110 c.959delA p.Q320Rfs*25 frameshift 0.00032203●●●●●●
12. 9982648 c.575G>A p.C192Y missense 0.00018143●●●●●●
13. 9982816 c.659G>A p.R220Q missense 0.00018127●●●●●●
14. 9985169 c.1018G>A p.E340K missense 0.00016518●●●●●●
15. 9976611 c.257+10T>G splice site 0.00016388●●●●●●
16. 9979356 c.368A>T p.K123M missense 0.00015890●●●●●●
17. 9982708 c.635C>T p.S212L missense 0.00013185●●●●●●
18. 9982709 c.636G>A p.S212S splice site 0.00011536●●●●●●
19. 9979763 c.433G>A p.A145T missense 0.00010053●●●●●●
20. 9982686 c.613A>G p.N205D missense 0.00009890●●●●●●
21. 9979239 c.258-7C>T splice site 0.00009104●●●●●●
22. 9985130 c.979G>A p.G327S missense 0.00009079●●●●●●
23. 9976206 c.84G>T p.W28C missense 0.00006608●●●●●●
24. 9979298 c.310G>A p.E104K missense 0.00005930●●●●●●
25. 9979790 c.460C>T p.P154S missense 0.00005099●●●●●●
26. 9986222 c.1222C>T p.R408C missense 0.00004221●●●●●●
27. 9979254 c.266G>A p.R89H missense 0.00004157●●●●●●
28. 9982856 c.699G>C p.K233N missense 0.00004129●●●●●●
29. 9986171 c.1171G>A p.A391T missense 0.00004120●●●●●●
30. 9979307 c.319C>T p.R107C missense 0.00004050●●●●●●
31. 9976578 c.234G>C p.E78D missense 0.00004037●●●●●●
32. 9979275 c.287G>A p.G96D missense 0.00003912●●●●●●
33. 9986231 c.1231C>T p.R411C missense 0.00003454●●●●●●
34. 9979239 c.258-7C>G splice site 0.00003414●●●●●●
35. 9976241 c.119C>T p.P40L missense 0.00003312●●●●●●
36. 9982629 c.556G>A p.G186S missense 0.00003300●●●●●●
37. 9982635 c.562G>A p.G188R missense 0.00003300●●●●●●
38. 9986181 c.1181T>C p.I394T missense 0.00003297●●●●●●
39. 9976580 c.236A>G p.N79S missense 0.00003094●●●●●●
40. 9976559 c.215A>G p.N72S missense 0.00002877●●●●●●
41. 9986223 c.1223G>A p.R408H missense 0.00002534●●●●●●
42. 9982563 c.490G>A p.G164S missense 0.00002489●●●●●●
43. 9982577 c.504G>T p.Q168H missense 0.00002485●●●●●●
44. 9984806 c.863G>A p.R288H missense 0.00002481●●●●●●
45. 9984830 c.887A>C p.Y296S missense 0.00002481●●●●●●
46. 9985095 c.944C>T p.P315L missense 0.00002479●●●●●●
47. 9982608 c.535G>A p.G179R missense 0.00002478●●●●●●
48. 9985151 c.1000G>C p.E334Q missense 0.00002476●●●●●●
49. 9984550 c.787G>A p.V263M missense 0.00002473●●●●●●
50. 9982798 c.641G>A p.C214Y missense 0.00002472●●●●●●
51. 9986139 c.1139C>T p.T380M missense 0.00002471●●●●●●
52. 9979251 c.263C>T p.T88I missense 0.00002110●●●●●●
53. 9979253 c.265C>T p.R89C missense 0.00002093●●●●●●
54. 9979259 c.271G>A p.V91I missense 0.00002031●●●●●●
55. 9976537 c.193_194insG p.Asp66GlyfsTer22 frameshift 0.00001948●●●●●●
56. 9976547 c.203T>C p.F68S missense 0.00001912●●●●●●
57. 9979701 c.371A>C p.Q124P missense 0.00001709●●●●●●
58. 9979787 c.457C>T p.L153F missense 0.00001696●●●●●●
59. 9979713 c.383C>T p.P128L missense 0.00001688●●●●●●
60. 9982892 c.733+2T>A essential splice site 0.00001669●●●●●●
61. 9976237 c.115delC p.Pro40ArgfsTer52 frameshift 0.00001660●●●●●●
62. 9976256 c.134C>T p.P45L missense 0.00001657●●●●●●
63. 9976241 c.119C>G p.P40R missense 0.00001656●●●●●●
64. 9984856 c.913G>A p.D305N missense 0.00001656●●●●●●
65. 9976240 c.118C>T p.P40S missense 0.00001656●●●●●●
66. 9984853 c.910C>G p.L304V missense 0.00001655●●●●●●
67. 9984857 c.913+1G>A essential splice site 0.00001655●●●●●●
68. 9982596 c.523C>T p.R175X nonsense 0.00001654●●●●●●
69. 9984833 c.890A>C p.Q297P missense 0.00001654●●●●●●
70. 9985085 c.934G>C p.E312Q missense 0.00001654●●●●●●
71. 9976135 c.13C>A p.P5T missense 0.00001651●●●●●●
72. 9976136 c.14C>T p.P5L missense 0.00001651●●●●●●
73. 9985124 c.973G>A p.E325K missense 0.00001651●●●●●●
74. 9986182 c.1182T>G p.I394M missense 0.00001649●●●●●●
75. 9984563 c.800G>C p.G267A missense 0.00001649●●●●●●
76. 9982832 c.675G>T p.E225D missense 0.00001649●●●●●●
77. 9982683 c.610C>T p.R204C missense 0.00001649●●●●●●
78. 9984558 c.795_796insG p.E266Gfs*5 frameshift 0.00001648●●●●●●
79. 9984550 c.787G>C p.V263L missense 0.00001648●●●●●●
80. 9986105 c.1105A>G p.M369V missense 0.00001647●●●●●●
81. 9986126 c.1126_1127delTG p.Ala377ThrfsTer7 frameshift 0.00001647●●●●●●
82. 9979364 c.368+8G>A splice site 0.00001421●●●●●●
83. 9979359 c.368+3G>A splice site 0.00001357●●●●●●
84. 9979356 c.368A>G p.K123R missense 0.00001324●●●●●●
85. 9979352 c.364C>T p.H122Y missense 0.00001273●●●●●●
86. 9979344 c.356G>A p.W119X nonsense 0.00001210●●●●●●
87. 9979238 c.258-8C>A splice site 0.00001146●●●●●●
88. 9986259 c.1259G>A p.R420K missense 0.00001131●●●●●●
89. 9976517 c.175-2A>G essential splice site 0.00001064●●●●●●
90. 9976520 c.176G>A p.G59D missense 0.00001042●●●●●●
91. 9986252 c.1252A>G p.K418E missense 0.00001012●●●●●●
92. 9979300 c.312G>C p.E104D missense 0.00000990●●●●●●
93. 9979296 c.308_309insC p.Glu104ArgfsTer10 frameshift 0.00000982●●●●●●
94. 9979275 c.287G>T p.G96V missense 0.00000978●●●●●●
95. 9976537 c.193C>T p.R65W missense 0.00000974●●●●●●
96. 9976540 c.196G>A p.D66N missense 0.00000968●●●●●●
97. 9986232 c.1232G>A p.R411H missense 0.00000871●●●●●●
98. 9979692 c.369-7G>A splice site 0.00000863●●●●●●
99. 9986226 c.1226G>A p.S409N missense 0.00000852●●●●●●
100. 9979789 c.459T>C p.L153L splice site 0.00000850●●●●●●
101. 9979716 c.386A>C p.D129A missense 0.00000842●●●●●●
102. 9979766 c.436G>C p.G146R missense 0.00000839●●●●●●
103. 9979729 c.399G>T p.W133C missense 0.00000838●●●●●●
104. 9979758 c.428G>A p.C143Y missense 0.00000837●●●●●●
105. 9979758 c.428G>T p.C143F missense 0.00000837●●●●●●
106. 9979737 c.407C>G p.S136X nonsense 0.00000837●●●●●●
107. 9982895 c.733+5G>A splice site 0.00000836●●●●●●
108. 9982885 c.728G>A p.C243Y missense 0.00000832●●●●●●
109. 9982887 c.730G>A p.V244I missense 0.00000832●●●●●●
110. 9976271 c.149G>A p.R50Q missense 0.00000830●●●●●●
111. 9985058 c.914-7C>G splice site 0.00000830●●●●●●
112. 9985063 c.914-2A>G essential splice site 0.00000830●●●●●●
113. 9976261 c.139C>G p.H47D missense 0.00000829●●●●●●
114. 9982877 c.720C>A p.H240Q missense 0.00000829●●●●●●
115. 9985067 c.916G>A p.V306M missense 0.00000829●●●●●●
116. 9976259 c.137G>C p.C46S missense 0.00000829●●●●●●
117. 9982878 c.721C>T p.L241F missense 0.00000829●●●●●●
118. 9985206 c.1048+7C>T splice site 0.00000828●●●●●●
119. 9982873 c.716A>C p.H239P missense 0.00000828●●●●●●
120. 9976246 c.124C>G p.Q42E missense 0.00000828●●●●●●
121. 9985207 c.1048+8C>T splice site 0.00000828●●●●●●
122. 9982576 c.503A>T p.Q168L missense 0.00000828●●●●●●
123. 9976241 c.119C>A p.P40Q missense 0.00000828●●●●●●
124. 9976235 c.113C>A p.S38Y missense 0.00000828●●●●●●
125. 9984793 c.850G>A p.A284T missense 0.00000827●●●●●●
126. 9976217 c.95C>T p.S32F missense 0.00000827●●●●●●
127. 9985196 c.1045C>T p.P349S missense 0.00000827●●●●●●
128. 9982590 c.517G>A p.G173R missense 0.00000827●●●●●●
129. 9985089 c.938T>A p.V313E missense 0.00000827●●●●●●
130. 9976219 c.97C>G p.P33A missense 0.00000827●●●●●●
131. 9984753 c.818-8C>T splice site 0.00000827●●●●●●
132. 9982598 c.525_526insG p.Ser178GlnfsTer5 frameshift 0.00000827●●●●●●
133. 9976222 c.100C>T p.P34S missense 0.00000827●●●●●●
134. 9982597 c.524G>A p.R175Q missense 0.00000827●●●●●●
135. 9984753 c.818-8C>G splice site 0.00000827●●●●●●
136. 9984781 c.838G>T p.G280C missense 0.00000827●●●●●●
137. 9984838 c.895G>A p.V299M missense 0.00000827●●●●●●
138. 9976126 c.4G>A p.A2T missense 0.00000826●●●●●●
139. 9985105 c.954_957delCAAG p.Lys319SerfsTer25 frameshift 0.00000826●●●●●●
140. 9982614 c.541T>C p.C181R missense 0.00000826●●●●●●
141. 9985187 c.1036G>A p.E346K missense 0.00000826●●●●●●
142. 9976130 c.8C>T p.P3L missense 0.00000826●●●●●●
143. 9976139 c.17C>T p.P6L missense 0.00000826●●●●●●
144. 9976132 c.10T>G p.W4G missense 0.00000826●●●●●●
145. 9985095 c.944C>G p.P315R missense 0.00000826●●●●●●
146. 9976204 c.82T>G p.W28G missense 0.00000826●●●●●●
147. 9985190 c.1039C>T p.Q347X nonsense 0.00000826●●●●●●
148. 9982645 c.572C>G p.A191G missense 0.00000825●●●●●●
149. 9976156 c.34G>A p.A12T missense 0.00000825●●●●●●
150. 9985151 c.1000G>A p.E334K missense 0.00000825●●●●●●
151. 9984492 c.734-5T>C splice site 0.00000825●●●●●●
152. 9984587 c.817+7G>A splice site 0.00000825●●●●●●
153. 9984581 c.817+1G>T essential splice site 0.00000825●●●●●●
154. 9982850 c.693A>T p.Q231H missense 0.00000825●●●●●●
155. 9982651 c.578G>A p.G193D missense 0.00000825●●●●●●
156. 9976169 c.47G>A p.G16D missense 0.00000825●●●●●●
157. 9985130 c.979G>T p.G327C missense 0.00000825●●●●●●
158. 9984578 c.815G>A p.R272Q missense 0.00000825●●●●●●
159. 9982854 c.697A>G p.K233E missense 0.00000825●●●●●●
160. 9982656 c.583T>C p.C195R missense 0.00000825●●●●●●
161. 9976175 c.53G>C p.S18T missense 0.00000825●●●●●●
162. 9985137 c.986G>C p.R329P missense 0.00000825●●●●●●
163. 9984584 c.817+4A>G splice site 0.00000825●●●●●●
164. 9982626 c.553G>C p.A185P missense 0.00000825●●●●●●
165. 9976162 c.40C>T p.L14F missense 0.00000825●●●●●●
166. 9985137 c.986G>A p.R329H missense 0.00000825●●●●●●
167. 9984585 c.817+5G>A splice site 0.00000825●●●●●●
168. 9982846 c.689T>C p.L230S missense 0.00000825●●●●●●
169. 9984572 c.809A>T p.E270V missense 0.00000824●●●●●●
170. 9982698 c.625C>G p.L209V missense 0.00000824●●●●●●
171. 9986133 c.1133T>C p.L378P missense 0.00000824●●●●●●
172. 9982684 c.611G>A p.R204H missense 0.00000824●●●●●●
173. 9984569 c.806A>G p.Y269C missense 0.00000824●●●●●●
174. 9986106 c.1106T>C p.M369T missense 0.00000824●●●●●●
175. 9986084 c.1084G>T p.E362X nonsense 0.00000824●●●●●●
176. 9986046 c.1049-3C>T splice site 0.00000824●●●●●●
177. 9986098 c.1098_1100delGCA p.Gln368del inframe 0.00000824●●●●●●
178. 9986110 c.1110C>G p.F370L missense 0.00000824●●●●●●
179. 9984508 c.745T>C p.C249R missense 0.00000824●●●●●●
180. 9982696 c.623A>G p.H208R missense 0.00000824●●●●●●
181. 9986084 c.1084G>A p.E362K missense 0.00000824●●●●●●
182. 9984557 c.794_795delCT p.T265Rfs*5 frameshift 0.00000824●●●●●●
183. 9984568 c.805T>C p.Y269H missense 0.00000824●●●●●●
184. 9986174 c.1174A>G p.I392V missense 0.00000824●●●●●●
185. 9986130 c.1130C>T p.A377V missense 0.00000824●●●●●●
186. 9982674 c.601G>C p.E201Q missense 0.00000824●●●●●●
187. 9984548 c.785G>T p.C262F 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.