COL11A1 variants in ExAC

COL11A1 gene summary
COL11A1 variants in

The table below lists the COL11A1 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. 103354138 c.4603T>C p.S1535P missense 0.79415508●●●●●●
2. 103496807 c.652-7delT splice site 0.60754533●●●●●●
3. 103379918 c.3968C>T p.P1323L missense 0.59155329●●●●●●
4. 103544434 c.275-7T>C splice site 0.17001415●●●●●●
5. 103468767 c.1998+4T>A splice site 0.12289806●●●●●●
6. 103496807 c.652-7_652-6delTT splice site 0.07999270●●●●●●
7. 103548497 c.138T>G p.D46E missense 0.06350542●●●●●●
8. 103496808 c.652-8_652-7insT splice site 0.04414020●●●●●●
9. 103469989 c.1944+11T>C splice site 0.03318223●●●●●●
10. 103468295 c.2043+8G>A splice site 0.03003881●●●●●●
11. 103496808 c.652-8_652-7insTTT splice site 0.02029938●●●●●●
12. 103354135 c.4606C>G p.P1536A missense 0.00851598●●●●●●
13. 103444970 c.2578T>A p.F860I missense 0.00683314●●●●●●
14. 103496807 c.652-7_652-6dupTT splice site 0.00580504●●●●●●
15. 103380372 c.3817-5T>C splice site 0.00397368●●●●●●
16. 103444664 c.2611-4C>T splice site 0.00395365●●●●●●
17. 103491163 c.904A>G p.I302V missense 0.00343569●●●●●●
18. 103355059 c.4416C>A p.D1472E missense 0.00294297●●●●●●
19. 103496807 c.652-7_652-6[3]TT splice site 0.00226360●●●●●●
20. 103364487 c.4140+10A>T splice site 0.00196688●●●●●●
21. 103428312 c.2921C>A p.P974Q missense 0.00187272●●●●●●
22. 103548505 c.130G>A p.A44T missense 0.00125506●●●●●●
23. 103548496 c.139T>A p.F47I missense 0.00087436●●●●●●
24. 103544374 c.328G>C p.G110R missense 0.00079028●●●●●●
25. 103354472 c.4468A>G p.I1490V missense 0.00078489●●●●●●
26. 103381192 c.3811G>T p.V1271L missense 0.00075828●●●●●●
27. 103379972 c.3925-11C>T splice site 0.00073917●●●●●●
28. 103488522 c.1021G>C p.E341Q missense 0.00071378●●●●●●
29. 103379193 c.4032G>A p.P1344P splice site 0.00069237●●●●●●
30. 103377744 c.4057G>A p.A1353T missense 0.00059726●●●●●●
31. 103400613 c.3492+3G>A splice site 0.00056079●●●●●●
32. 103379249 c.3979-3T>C splice site 0.00054398●●●●●●
33. 103471838 c.1717A>G p.T573A missense 0.00050678●●●●●●
34. 103573683 c.52A>T p.T18S missense 0.00050292●●●●●●
35. 103345315 c.5198G>A p.R1733H missense 0.00043701●●●●●●
36. 103470038 c.1906G>T p.D636Y missense 0.00038766●●●●●●
37. 103488342 c.1201T>A p.F401I missense 0.00038349●●●●●●
38. 103487334 c.1246-9A>C splice site 0.00037911●●●●●●
39. 103400635 c.3473T>C p.V1158A missense 0.00035102●●●●●●
40. 103468831 c.1945-7C>A splice site 0.00034854●●●●●●
41. 103480155 c.1489-5C>A splice site 0.00031028●●●●●●
42. 103470167 c.1896G>A p.M632I missense 0.00030462●●●●●●
43. 103347290 c.5003C>T p.P1668L missense 0.00029941●●●●●●
44. 103468332 c.2014G>A p.D672N missense 0.00028156●●●●●●
45. 103540265 c.560C>T p.T187M missense 0.00027288●●●●●●
46. 103491824 c.845A>G p.E282G missense 0.00026363●●●●●●
47. 103481285 c.1427G>A p.R476H missense 0.00026282●●●●●●
48. 103354147 c.4594C>G p.P1532A missense 0.00024795●●●●●●
49. 103453270 c.2421A>T p.R807S missense 0.00024790●●●●●●
50. 103352419 c.4802C>A p.T1601N missense 0.00024720●●●●●●
51. 103491070 c.990+7C>T splice site 0.00023961●●●●●●
52. 103540343 c.489-7T>G splice site 0.00022370●●●●●●
53. 103470156 c.1899+8A>G splice site 0.00021978●●●●●●
54. 103444999 c.2557-8T>C splice site 0.00020917●●●●●●
55. 103444283 c.2735C>T p.P912L missense 0.00019858●●●●●●
56. 103388950 c.3601-5C>G splice site 0.00019182●●●●●●
57. 103548420 c.215C>G p.T72S missense 0.00018126●●●●●●
58. 103364248 c.4222G>A p.G1408S missense 0.00016604●●●●●●
59. 103468831 c.1945-7C>T splice site 0.00016087●●●●●●
60. 103548489 c.146A>G p.N49S missense 0.00015669●●●●●●
61. 103488405 c.1138G>A p.E380K missense 0.00014921●●●●●●
62. 103427415 c.3168+7A>T splice site 0.00014626●●●●●●
63. 103412452 c.3229C>A p.P1077T missense 0.00014209●●●●●●
64. 103480146 c.1493G>A p.R498H missense 0.00013319●●●●●●
65. 103380373 c.3817-6G>T splice site 0.00012355●●●●●●
66. 103345240 c.5273C>T p.A1758V missense 0.00011574●●●●●●
67. 103379919 c.3967C>A p.P1323T missense 0.00010912●●●●●●
68. 103364554 c.4087-4A>G splice site 0.00010899●●●●●●
69. 103461539 c.2295+6G>A splice site 0.00010798●●●●●●
70. 103352503 c.4718C>T p.S1573L missense 0.00010713●●●●●●
71. 103364293 c.4177G>A p.G1393S missense 0.00009948●●●●●●
72. 103354445 c.4495C>T p.P1499S missense 0.00009905●●●●●●
73. 103491102 c.965C>T p.P322L missense 0.00009895●●●●●●
74. 103463875 c.2187T>A p.D729E missense 0.00009316●●●●●●
75. 103462630 c.2241+6T>C splice site 0.00009111●●●●●●
76. 103444260 c.2754+4C>T splice site 0.00009104●●●●●●
77. 103471383 c.1845+11T>G splice site 0.00009092●●●●●●
78. 103468326 c.2020C>T p.P674S missense 0.00009079●●●●●●
79. 103491777 c.892A>G p.T298A missense 0.00009060●●●●●●
80. 103363713 c.4270G>C p.A1424P missense 0.00008563●●●●●●
81. 103496754 c.698A>G p.Y233C missense 0.00008297●●●●●●
82. 103364277 c.4193A>C p.Q1398P missense 0.00008294●●●●●●
83. 103548367 c.268T>A p.F90I missense 0.00008253●●●●●●
84. 103491885 c.784G>A p.A262T missense 0.00008245●●●●●●
85. 103463859 c.2196+7A>G splice site 0.00007647●●●●●●
86. 103488374 c.1169A>G p.E390G missense 0.00007492●●●●●●
87. 103540340 c.489-4T>A splice site 0.00007454●●●●●●
88. 103468332 c.2014G>T p.D672Y missense 0.00007453●●●●●●
89. 103345239 c.5274G>A splice site 0.00007442●●●●●●
90. 103491154 c.913G>T p.D305Y missense 0.00007429●●●●●●
91. 103491141 c.926A>T p.Y309F missense 0.00007425●●●●●●
92. 103491882 c.787C>A p.P263T missense 0.00007420●●●●●●
93. 103345476 c.5041-4C>T splice site 0.00006926●●●●●●
94. 103471878 c.1684-7G>C splice site 0.00006674●●●●●●
95. 103440432 c.2762A>G p.Q921R missense 0.00006654●●●●●●
96. 103462645 c.2232G>C p.K744N missense 0.00006623●●●●●●
97. 103488480 c.1063T>C p.S355P missense 0.00006615●●●●●●
98. 103345394 c.5119C>T p.R1707W missense 0.00006600●●●●●●
99. 103491121 c.946A>G p.S316G missense 0.00006597●●●●●●
100. 103470210 c.1853G>A p.R618Q missense 0.00006272●●●●●●
101. 103461564 c.2276C>T p.P759L missense 0.00005855●●●●●●
102. 103488504 c.1039G>A p.D347N missense 0.00005799●●●●●●
103. 103544224 c.478G>A p.A160T missense 0.00005792●●●●●●
104. 103354271 c.4554+8C>T splice site 0.00005790●●●●●●
105. 103467529 c.2098-4A>T splice site 0.00005790●●●●●●
106. 103491160 c.907G>A p.V303I missense 0.00005780●●●●●●
107. 103345381 c.5132C>T p.T1711I missense 0.00005773●●●●●●
108. 103487333 c.1246-8T>C splice site 0.00005769●●●●●●
109. 103352512 c.4709T>C p.L1570P missense 0.00005768●●●●●●
110. 103400010 c.3595C>G p.L1199V missense 0.00005768●●●●●●
111. 103352416 c.4805A>G p.N1602S missense 0.00005768●●●●●●
112. 103388932 c.3614C>A p.P1205Q missense 0.00005602●●●●●●
113. 103467984 c.2097G>C p.Q699H missense 0.00005402●●●●●●
114. 103380261 c.3923C>T p.P1308L missense 0.00005375●●●●●●
115. 103377735 c.4066C>T p.P1356S missense 0.00005318●●●●●●
116. 103468328 c.2018G>T p.G673V missense 0.00005279●●●●●●
117. 103427453 c.3137G>A p.G1046E missense 0.00005182●●●●●●
118. 103544341 c.361G>A p.E121K missense 0.00005004●●●●●●
119. 103347280 c.5013G>T p.W1671C missense 0.00004991●●●●●●
120. 103573718 c.17C>T p.S6F missense 0.00004979●●●●●●
121. 103481225 c.1487C>T p.P496L missense 0.00004977●●●●●●
122. 103453294 c.2397A>T splice site 0.00004963●●●●●●
123. 103480117 c.1522A>G p.T508A missense 0.00004959●●●●●●
124. 103343637 c.5359G>A p.D1787N missense 0.00004954●●●●●●
125. 103431040 c.2916+3A>G splice site 0.00004952●●●●●●
126. 103345369 c.5144A>T p.H1715L missense 0.00004948●●●●●●
127. 103548477 c.158G>A p.G53E missense 0.00004946●●●●●●
128. 103487331 c.1246-6C>T splice site 0.00004945●●●●●●
129. 103548462 c.173C>T p.T58M missense 0.00004945●●●●●●
130. 103352556 c.4665A>T p.R1555S missense 0.00004944●●●●●●
131. 103548441 c.194A>G p.K65R missense 0.00004943●●●●●●
132. 103352407 c.4814G>A p.R1605Q missense 0.00004943●●●●●●
133. 103412451 c.3230C>T p.P1077L missense 0.00004446●●●●●●
134. 103468328 c.2018G>A p.G673D missense 0.00004399●●●●●●
135. 103463912 c.2150A>G p.Q717R missense 0.00004347●●●●●●
136. 103548522 c.113C>T p.P38L missense 0.00004143●●●●●●
137. 103544265 c.437C>T p.P146L missense 0.00004131●●●●●●
138. 103467981 c.2097+3A>G splice site 0.00004123●●●●●●
139. 103399997 c.3600+8G>A splice site 0.00004123●●●●●●
140. 103355052 c.4423C>T p.L1475F missense 0.00004121●●●●●●
141. 103352521 c.4700A>G p.D1567G missense 0.00004120●●●●●●
142. 103400015 c.3590T>C p.I1197T missense 0.00004120●●●●●●
143. 103385859 c.3762+8T>C splice site 0.00004119●●●●●●
144. 103356035 c.4328A>C p.K1443T missense 0.00003894●●●●●●
145. 103470160 c.1899+4T>G splice site 0.00003770●●●●●●
146. 103468021 c.2060C>T p.P687L missense 0.00003723●●●●●●
147. 103468007 c.2074C>A p.Q692K missense 0.00003653●●●●●●
148. 103412464 c.3217T>G p.L1073V missense 0.00003601●●●●●●
149. 103444939 c.2609G>A p.R870Q missense 0.00003549●●●●●●
150. 103477974 c.1624C>T p.P542S missense 0.00003419●●●●●●
151. 103440435 c.2759C>G p.P920R missense 0.00003328●●●●●●
152. 103496770 c.682G>A p.D228N missense 0.00003322●●●●●●
153. 103548525 c.110C>T p.A37V missense 0.00003317●●●●●●
154. 103364284 c.4186G>A p.G1396S missense 0.00003317●●●●●●
155. 103405891 c.3376G>A p.G1126R missense 0.00003317●●●●●●
156. 103428313 c.2920C>A p.P974T missense 0.00003315●●●●●●
157. 103444627 c.2644C>T p.R882C missense 0.00003315●●●●●●
158. 103428309 c.2924C>A p.T975N missense 0.00003312●●●●●●
159. 103540214 c.611C>T p.T204M missense 0.00003310●●●●●●
160. 103488491 c.1052A>G p.Q351R missense 0.00003310●●●●●●
161. 103540328 c.497G>A p.R166Q missense 0.00003310●●●●●●
162. 103540265 c.560C>A p.T187K missense 0.00003308●●●●●●
163. 103540314 c.511G>A p.V171M missense 0.00003308●●●●●●
164. 103453238 c.2453G>A p.R818Q missense 0.00003305●●●●●●
165. 103345397 c.5116G>A p.A1706T missense 0.00003300●●●●●●
166. 103343595 c.5401C>G p.P1801A missense 0.00003300●●●●●●
167. 103491888 c.781T>C p.Y261H missense 0.00003299●●●●●●
168. 103468344 c.2002A>G p.M668V missense 0.00003299●●●●●●
169. 103352618 c.4609-6T>C splice site 0.00003298●●●●●●
170. 103379188 c.4032+5G>A splice site 0.00003297●●●●●●
171. 103379194 c.4031C>T p.P1344L missense 0.00003297●●●●●●
172. 103400063 c.3542A>C p.Q1181P missense 0.00003295●●●●●●
173. 103481268 c.1444G>A p.A482T missense 0.00003118●●●●●●
174. 103463924 c.2143-5A>G splice site 0.00003084●●●●●●
175. 103427480 c.3115-5C>T splice site 0.00002815●●●●●●
176. 103363700 c.4283A>G p.D1428G missense 0.00002754●●●●●●
177. 103412470 c.3211A>G p.I1071V missense 0.00002733●●●●●●
178. 103427473 c.3117T>C splice site 0.00002714●●●●●●
179. 103468760 c.1998+11C>T splice site 0.00002631●●●●●●
180. 103405980 c.3287G>C p.G1096A missense 0.00002613●●●●●●
181. 103427436 c.3154C>T p.P1052S missense 0.00002568●●●●●●
182. 103481224 c.1488G>A splice site 0.00002532●●●●●●
183. 103380339 c.3845G>C p.G1282A missense 0.00002526●●●●●●
184. 103380318 c.3866C>G p.A1289G missense 0.00002525●●●●●●
185. 103380316 c.3868G>T p.A1290S missense 0.00002525●●●●●●
186. 103544350 c.352A>G p.I118V missense 0.00002517●●●●●●
187. 103461556 c.2284C>T p.R762W missense 0.00002506●●●●●●
188. 103435824 c.2813C>G p.P938R missense 0.00002503●●●●●●
189. 103488363 c.1180A>G p.T394A missense 0.00002499●●●●●●
190. 103471849 c.1706C>T p.P569L missense 0.00002496●●●●●●
191. 103488534 c.1009A>G p.I337V missense 0.00002494●●●●●●
192. 103471837 c.1718C>T p.T573M missense 0.00002493●●●●●●
193. 103488512 c.1031C>T p.T344M missense 0.00002488●●●●●●
194. 103364292 c.4178G>A p.G1393D missense 0.00002487●●●●●●
195. 103444617 c.2654C>T p.T885M missense 0.00002487●●●●●●
196. 103455079 c.2389G>A p.D797N missense 0.00002486●●●●●●
197. 103540197 c.628A>G p.I210V missense 0.00002485●●●●●●
198. 103488500 c.1043A>T p.Y348F missense 0.00002484●●●●●●
199. 103462633 c.2241+3A>G splice site 0.00002484●●●●●●
200. 103540329 c.496C>T p.R166W missense 0.00002483●●●●●●
201. 103488492 c.1051C>A p.Q351K missense 0.00002483●●●●●●
202. 103540223 c.602A>G p.N201S missense 0.00002482●●●●●●
203. 103405909 c.3358G>A p.G1120S missense 0.00002481●●●●●●
204. 103355103 c.4372A>C p.I1458L missense 0.00002480●●●●●●
205. 103354155 c.4586T>C p.L1529P missense 0.00002479●●●●●●
206. 103491164 c.903C>A p.N301K missense 0.00002478●●●●●●
207. 103468308 c.2038A>C p.N680H missense 0.00002476●●●●●●
208. 103345419 c.5094C>A p.F1698L missense 0.00002476●●●●●●
209. 103468326 c.2020C>A p.P674T missense 0.00002476●●●●●●
210. 103573704 c.31A>G p.K11E missense 0.00002476●●●●●●
211. 103573700 c.35G>A p.R12Q missense 0.00002475●●●●●●
212. 103345276 c.5237A>G p.N1746S missense 0.00002475●●●●●●
213. 103427770 c.3076C>T p.R1026C missense 0.00002473●●●●●●
214. 103348841 c.4885G>T p.G1629C missense 0.00002473●●●●●●
215. 103355057 c.4418G>A p.R1473Q missense 0.00002473●●●●●●
216. 103491882 c.787C>T p.P263S missense 0.00002473●●●●●●
217. 103487309 c.1262C>T p.A421V missense 0.00002472●●●●●●
218. 103491846 c.823G>A p.E275K missense 0.00002472●●●●●●
219. 103491807 c.862C>A p.P288T missense 0.00002471●●●●●●
220. 103377775 c.4033-7T>C splice site 0.00002471●●●●●●
221. 103377717 c.4084C>T p.R1362X nonsense 0.00002366●●●●●●
222. 103496803 c.652-3C>T splice site 0.00002312●●●●●●
223. 103544432 c.275-5C>G splice site 0.00002226●●●●●●
224. 103544422 c.280A>G p.T94A missense 0.00002088●●●●●●
225. 103363738 c.4249-4C>T splice site 0.00001984●●●●●●
226. 103449750 c.2503-3T>C splice site 0.00001897●●●●●●
227. 103380375 c.3817-8T>A splice site 0.00001891●●●●●●
228. 103470161 c.1899+3A>G splice site 0.00001879●●●●●●
229. 103427475 c.3115G>A p.G1039S missense 0.00001816●●●●●●
230. 103444987 c.2561C>T p.S854F missense 0.00001808●●●●●●
231. 103468831 c.1945-7_1945-6insTT splice site 0.00001787●●●●●●
232. 103470204 c.1859C>T p.P620L missense 0.00001780●●●●●●
233. 103412454 c.3227G>A p.R1076H missense 0.00001780●●●●●●
234. 103364505 c.4132G>T p.G1378C missense 0.00001773●●●●●●
235. 103444940 c.2608C>T p.R870W missense 0.00001769●●●●●●
236. 103363734 c.4249G>A p.G1417R missense 0.00001764●●●●●●
237. 103468821 c.1948C>T p.P650S missense 0.00001742●●●●●●
238. 103470001 c.1943C>A p.A648D missense 0.00001738●●●●●●
239. 103468820 c.1949C>G p.P650R missense 0.00001738●●●●●●
240. 103427454 c.3136G>A p.G1046R missense 0.00001729●●●●●●
241. 103468773 c.1996C>A p.P666T missense 0.00001717●●●●●●
242. 103400660 c.3448G>A p.G1150S missense 0.00001710●●●●●●
243. 103463868 c.2194C>T p.P732S missense 0.00001696●●●●●●
244. 103364557 c.4087-7T>A splice site 0.00001678●●●●●●
245. 103364337 c.4141-8T>A splice site 0.00001675●●●●●●
246. 103461576 c.2264C>T p.P755L missense 0.00001674●●●●●●
247. 103461555 c.2285G>T p.R762L missense 0.00001673●●●●●●
248. 103461555 c.2285G>A p.R762Q missense 0.00001673●●●●●●
249. 103488298 c.1245C>A p.S415R missense 0.00001670●●●●●●
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752. 103471635 c.1780C>G p.P594A missense 0.00000824●●●●●●
753. 103427764 c.3082T>C p.F1028L missense 0.00000824●●●●●●
754. 103491836 c.833A>T p.Y278F missense 0.00000824●●●●●●
755. 103548447 c.188A>G p.N63S missense 0.00000824●●●●●●
756. 103548463 c.172A>G p.T58A missense 0.00000824●●●●●●
757. 103385907 c.3722C>T p.P1241L missense 0.00000824●●●●●●
758. 103348777 c.4949A>T p.Y1650F missense 0.00000824●●●●●●
759. 103404628 c.3401C>T p.P1134L missense 0.00000824●●●●●●
760. 103352597 c.4624G>A p.V1542I missense 0.00000824●●●●●●
761. 103483379 c.1410T>A p.D470E missense 0.00000824●●●●●●
762. 103491819 c.850G>T p.V284L missense 0.00000824●●●●●●
763. 103400086 c.3519A>T p.R1173S missense 0.00000824●●●●●●
764. 103400109 c.3496G>T p.G1166C missense 0.00000824●●●●●●
765. 103471673 c.1742G>A p.R581H missense 0.00000824●●●●●●
766. 103428244 c.2989G>A p.G997S missense 0.00000824●●●●●●
767. 103404642 c.3387T>C splice site 0.00000824●●●●●●
768. 103352579 c.4642_4644delATC p.Ile1548del inframe 0.00000824●●●●●●
769. 103352416 c.4805A>C p.N1602T missense 0.00000824●●●●●●
770. 103385890 c.3739T>C p.S1247P missense 0.00000824●●●●●●
771. 103487310 c.1261G>A p.A421T missense 0.00000824●●●●●●
772. 103491848 c.821G>C p.G274A missense 0.00000824●●●●●●
773. 103487279 c.1292C>A p.P431Q missense 0.00000824●●●●●●
774. 103491776 c.893C>T p.T298M missense 0.00000824●●●●●●
775. 103483381 c.1408G>C p.D470H missense 0.00000824●●●●●●
776. 103352560 c.4661C>A p.T1554K 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.