COL1A1 variants in ExAC

COL1A1 gene summary
COL1A1 variants in

The table below lists the COL1A1 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. 48265495 c.3223A>G p.T1075A missense 0.98479442●●●●●●
2. 48272469 c.1300-8C>G splice site 0.01880764●●●●●●
3. 48273737 c.904-9G>T splice site 0.00885176●●●●●●
4. 48272469 c.1300-8C>T splice site 0.00841046●●●●●●
5. 48264366 c.3531+10C>A splice site 0.00508132●●●●●●
6. 48277107 c.298+7C>A splice site 0.00428237●●●●●●
7. 48275339 c.613C>G p.P205A missense 0.00358358●●●●●●
8. 48269390 c.1984-5C>A splice site 0.00333276●●●●●●
9. 48271548 c.1615-4C>A splice site 0.00280670●●●●●●
10. 48269827 c.1983+9G>T splice site 0.00240517●●●●●●
11. 48270355 c.1821C>T p.V607V splice site 0.00221950●●●●●●
12. 48273665 c.957+10C>A splice site 0.00188263●●●●●●
13. 48273335 c.1005T>A p.G335G splice site 0.00129636●●●●●●
14. 48272827 c.1168G>A p.A390T missense 0.00128511●●●●●●
15. 48263206 c.4181A>G p.N1394S missense 0.00088573●●●●●●
16. 48262871 c.4387T>C p.F1463L missense 0.00086803●●●●●●
17. 48272643 c.1249C>G p.P417A missense 0.00086230●●●●●●
18. 48263369 c.4018G>A p.G1340S missense 0.00072625●●●●●●
19. 48270160 c.1873G>A p.A625T missense 0.00062818●●●●●●
20. 48264489 c.3424-6C>A splice site 0.00061608●●●●●●
21. 48268812 c.2167G>A p.A723T missense 0.00059419●●●●●●
22. 48266096 c.3099+7T>C splice site 0.00051153●●●●●●
23. 48268811 c.2168C>T p.A723V missense 0.00050342●●●●●●
24. 48267454 c.2467C>G p.P823A missense 0.00035036●●●●●●
25. 48275299 c.642+11T>C splice site 0.00034016●●●●●●
26. 48267725 c.2414C>T p.P805L missense 0.00033177●●●●●●
27. 48278798 c.77G>A p.G26D missense 0.00032925●●●●●●
28. 48273298 c.1042G>A p.A348T missense 0.00027367●●●●●●
29. 48264049 c.3766G>A p.A1256T missense 0.00027210●●●●●●
30. 48266851 c.2716G>A p.G906S missense 0.00026587●●●●●●
31. 48272075 c.1461+7G>A splice site 0.00026071●●●●●●
32. 48265996 c.3102T>C p.G1034G splice site 0.00024054●●●●●●
33. 48263718 c.3965G>A p.R1322K missense 0.00021415●●●●●●
34. 48271380 c.1691G>A p.R564H missense 0.00019804●●●●●●
35. 48276925 c.325G>C p.G109R missense 0.00018985●●●●●●
36. 48276819 c.334-5C>A splice site 0.00018403●●●●●●
37. 48270416 c.1768-8C>T splice site 0.00018273●●●●●●
38. 48264845 c.3423A>C p.R1141R splice site 0.00016739●●●●●●
39. 48264244 c.3571C>G p.P1191A missense 0.00015806●●●●●●
40. 48266141 c.3061G>C p.E1021Q missense 0.00015682●●●●●●
41. 48270048 c.1882G>A p.A628T missense 0.00015659●●●●●●
42. 48266534 c.2932C>T p.P978S missense 0.00014394●●●●●●
43. 48269392 c.1984-7C>G splice site 0.00014301●●●●●●
44. 48269207 c.2069C>T p.P690L missense 0.00014215●●●●●●
45. 48276663 c.395A>G p.D132G missense 0.00013048●●●●●●
46. 48273282 c.1056+2T>C essential splice site 0.00012500●●●●●●
47. 48265974 c.3124G>A p.A1042T missense 0.00012459●●●●●●
48. 48264078 c.3737G>A p.R1246Q missense 0.00012359●●●●●●
49. 48264372 c.3531+4T>C splice site 0.00011711●●●●●●
50. 48263834 c.3849C>A p.N1283K missense 0.00011533●●●●●●
51. 48273295 c.1045G>T p.V349F missense 0.00011227●●●●●●
52. 48266309 c.3000G>C p.M1000I missense 0.00010761●●●●●●
53. 48265485 c.3233T>C p.V1078A missense 0.00010537●●●●●●
54. 48276672 c.386delC p.Pro129LeufsTer136 frameshift 0.00010181●●●●●●
55. 48277279 c.133C>G p.L45V missense 0.00009941●●●●●●
56. 48271741 c.1583G>A p.R528H missense 0.00009916●●●●●●
57. 48276673 c.385C>T p.P129S missense 0.00009664●●●●●●
58. 48271396 c.1675G>A p.A559T missense 0.00009096●●●●●●
59. 48270064 c.1876-10C>T splice site 0.00009067●●●●●●
60. 48272643 c.1249C>T p.P417S missense 0.00008538●●●●●●
61. 48269364 c.2005G>A p.A669T missense 0.00008347●●●●●●
62. 48266004 c.3100-6C>T splice site 0.00008291●●●●●●
63. 48272468 c.1300-7dupC splice site 0.00008284●●●●●●
64. 48270155 c.1875+3G>T splice site 0.00008264●●●●●●
65. 48265328 c.3278G>A p.R1093H missense 0.00008261●●●●●●
66. 48274551 c.740C>T p.P247L missense 0.00008245●●●●●●
67. 48272168 c.1375C>A p.P459T missense 0.00007918●●●●●●
68. 48272197 c.1354-8delC splice site 0.00007905●●●●●●
69. 48276804 c.344G>A p.G115E missense 0.00007619●●●●●●
70. 48265902 c.3196C>T p.R1066C missense 0.00007468●●●●●●
71. 48266261 c.3045+3G>A splice site 0.00007464●●●●●●
72. 48270195 c.1838A>G p.D613G missense 0.00007453●●●●●●
73. 48266365 c.2944C>A p.P982T missense 0.00007445●●●●●●
74. 48264220 c.3595A>G p.S1199G missense 0.00007430●●●●●●
75. 48263673 c.4005+5G>A splice site 0.00007414●●●●●●
76. 48269204 c.2072C>T p.P691L missense 0.00007225●●●●●●
77. 48273002 c.1081C>G p.R361G missense 0.00006715●●●●●●
78. 48269391 c.1984-6C>G splice site 0.00006666●●●●●●
79. 48267212 c.2613+8T>C splice site 0.00006608●●●●●●
80. 48271928 c.1515+6C>T splice site 0.00006316●●●●●●
81. 48269186 c.2090G>A p.R697Q missense 0.00006310●●●●●●
82. 48268294 c.2236-9T>C splice site 0.00005864●●●●●●
83. 48268288 c.2236-3T>C splice site 0.00005836●●●●●●
84. 48265929 c.3169G>A p.V1057I missense 0.00005806●●●●●●
85. 48264060 c.3755G>A p.R1252H missense 0.00005769●●●●●●
86. 48273894 c.859-5T>C splice site 0.00005766●●●●●●
87. 48267225 c.2608C>T p.P870S missense 0.00005409●●●●●●
88. 48263357 c.4030G>A p.D1344N missense 0.00005126●●●●●●
89. 48269222 c.2054G>A p.R685H missense 0.00005114●●●●●●
90. 48265518 c.3208-8C>T splice site 0.00004995●●●●●●
91. 48266794 c.2773C>G p.P925A missense 0.00004985●●●●●●
92. 48277268 c.144T>A p.H48Q missense 0.00004968●●●●●●
93. 48263306 c.4081G>A p.E1361K missense 0.00004964●●●●●●
94. 48263255 c.4132G>A p.D1378N missense 0.00004958●●●●●●
95. 48268233 c.2288G>A p.R763H missense 0.00004954●●●●●●
96. 48272790 c.1200+5G>A splice site 0.00004944●●●●●●
97. 48263704 c.3979G>A p.G1327S missense 0.00004942●●●●●●
98. 48265515 c.3208-5C>T splice site 0.00004929●●●●●●
99. 48269245 c.2031C>A splice site 0.00004783●●●●●●
100. 48265513 c.3208-3C>A splice site 0.00004749●●●●●●
101. 48273322 c.1018G>A p.A340T missense 0.00004746●●●●●●
102. 48269177 c.2099A>T p.N700I missense 0.00004620●●●●●●
103. 48269251 c.2029-4C>A splice site 0.00004618●●●●●●
104. 48273328 c.1012G>A p.G338S missense 0.00004588●●●●●●
105. 48263326 c.4061T>G p.F1354C missense 0.00004144●●●●●●
106. 48272974 c.1109G>A p.R370H missense 0.00004143●●●●●●
107. 48262886 c.4372G>A p.V1458I missense 0.00004132●●●●●●
108. 48272930 c.1153G>A p.A385T missense 0.00004126●●●●●●
109. 48268733 c.2235+11C>G splice site 0.00004123●●●●●●
110. 48272183 c.1360G>A p.V454I missense 0.00004006●●●●●●
111. 48272177 c.1366G>A p.V456I missense 0.00003979●●●●●●
112. 48269141 c.2127+8C>A splice site 0.00003977●●●●●●
113. 48272167 c.1376C>T p.P459L missense 0.00003963●●●●●●
114. 48272168 c.1375C>T p.P459S missense 0.00003959●●●●●●
115. 48271984 c.1465G>A p.G489R missense 0.00003756●●●●●●
116. 48269146 c.2127+3G>A splice site 0.00003739●●●●●●
117. 48272096 c.1447C>T p.P483S missense 0.00003732●●●●●●
118. 48272095 c.1448C>A p.P483H missense 0.00003724●●●●●●
119. 48272111 c.1432A>G p.T478A missense 0.00003713●●●●●●
120. 48272111 c.1432A>T p.T478S missense 0.00003713●●●●●●
121. 48272104 c.1439T>C p.L480P missense 0.00003695●●●●●●
122. 48275833 c.504T>G p.D168E missense 0.00003630●●●●●●
123. 48269868 c.1951C>T p.P651S missense 0.00003567●●●●●●
124. 48265471 c.3247G>A p.A1083T missense 0.00003485●●●●●●
125. 48263348 c.4039G>A p.D1347N missense 0.00003361●●●●●●
126. 48276812 c.336A>T splice site 0.00003361●●●●●●
127. 48265467 c.3251G>T p.R1084L missense 0.00003353●●●●●●
128. 48267688 c.2451T>C p.P817P splice site 0.00003350●●●●●●
129. 48276818 c.334-4A>G splice site 0.00003348●●●●●●
130. 48275570 c.544-4A>G splice site 0.00003337●●●●●●
131. 48269894 c.1930-5T>C splice site 0.00003321●●●●●●
132. 48265959 c.3139G>C p.A1047P missense 0.00003319●●●●●●
133. 48265992 c.3106C>T p.R1036C missense 0.00003317●●●●●●
134. 48263135 c.4248+4A>G splice site 0.00003316●●●●●●
135. 48263016 c.4249-7A>C splice site 0.00003315●●●●●●
136. 48263192 c.4195C>T p.R1399C missense 0.00003313●●●●●●
137. 48272469 c.1300-8C>A splice site 0.00003311●●●●●●
138. 48277234 c.178A>T p.I60F missense 0.00003309●●●●●●
139. 48271350 c.1721G>A p.R574H missense 0.00003302●●●●●●
140. 48271377 c.1694C>T p.P565L missense 0.00003301●●●●●●
141. 48266097 c.3099+6A>G splice site 0.00003300●●●●●●
142. 48268763 c.2216C>T p.P739L missense 0.00003298●●●●●●
143. 48264135 c.3680G>A p.R1227H missense 0.00003295●●●●●●
144. 48263689 c.3994G>A p.D1332N missense 0.00003295●●●●●●
145. 48263818 c.3865G>C p.V1289L missense 0.00003295●●●●●●
146. 48273276 c.1056+8C>G splice site 0.00003276●●●●●●
147. 48273281 c.1056+3G>A splice site 0.00003155●●●●●●
148. 48267239 c.2594G>A p.R865H missense 0.00003143●●●●●●
149. 48269160 c.2116G>A p.D706N missense 0.00003110●●●●●●
150. 48275856 c.481C>T p.P161S missense 0.00002905●●●●●●
151. 48269391 c.1984-6C>A splice site 0.00002857●●●●●●
152. 48276770 c.369+9T>G splice site 0.00002780●●●●●●
153. 48267280 c.2560-7C>T splice site 0.00002741●●●●●●
154. 48272593 c.1299C>T splice site 0.00002660●●●●●●
155. 48273303 c.1037C>T p.P346L missense 0.00002620●●●●●●
156. 48275087 c.696+6T>C splice site 0.00002618●●●●●●
157. 48272624 c.1268C>T p.P423L missense 0.00002613●●●●●●
158. 48273304 c.1036C>T p.P346S missense 0.00002594●●●●●●
159. 48273021 c.1062A>T p.E354D missense 0.00002582●●●●●●
160. 48264286 c.3532-3C>T splice site 0.00002582●●●●●●
161. 48264477 c.3430C>T p.P1144S missense 0.00002558●●●●●●
162. 48270393 c.1783G>T p.A595S missense 0.00002557●●●●●●
163. 48271947 c.1502T>C p.V501A missense 0.00002554●●●●●●
164. 48278787 c.88G>C p.G30R missense 0.00002537●●●●●●
165. 48267457 c.2464C>G p.Q822E missense 0.00002504●●●●●●
166. 48266797 c.2770C>T p.P924S missense 0.00002492●●●●●●
167. 48268198 c.2323G>A p.A775T missense 0.00002492●●●●●●
168. 48266830 c.2737A>G p.T913A missense 0.00002491●●●●●●
169. 48271549 c.1615-5C>T splice site 0.00002491●●●●●●
170. 48273535 c.983C>A p.T328N missense 0.00002487●●●●●●
171. 48273539 c.979G>T p.A327S missense 0.00002487●●●●●●
172. 48266378 c.2938-7C>T splice site 0.00002487●●●●●●
173. 48263191 c.4196G>A p.R1399H missense 0.00002485●●●●●●
174. 48264235 c.3580G>A p.A1194T missense 0.00002484●●●●●●
175. 48277183 c.229G>A p.E77K missense 0.00002484●●●●●●
176. 48263303 c.4084G>T p.A1362S missense 0.00002482●●●●●●
177. 48270172 c.1861C>A p.P621T missense 0.00002482●●●●●●
178. 48271802 c.1522G>A p.A508T missense 0.00002481●●●●●●
179. 48272951 c.1132C>G p.P378A missense 0.00002480●●●●●●
180. 48262951 c.4307G>A p.R1436H missense 0.00002480●●●●●●
181. 48262882 c.4376G>C p.G1459A missense 0.00002479●●●●●●
182. 48265329 c.3277C>T p.R1093C missense 0.00002478●●●●●●
183. 48262919 c.4339G>A p.V1447I missense 0.00002478●●●●●●
184. 48266154 c.3048G>A splice site 0.00002477●●●●●●
185. 48276919 c.331G>A p.E111K missense 0.00002477●●●●●●
186. 48271408 c.1669-6C>A splice site 0.00002476●●●●●●
187. 48268799 c.2180A>G p.Q727R missense 0.00002474●●●●●●
188. 48264196 c.3619G>A p.E1207K missense 0.00002473●●●●●●
189. 48264082 c.3733A>T p.I1245F missense 0.00002472●●●●●●
190. 48263785 c.3898G>A p.V1300M missense 0.00002471●●●●●●
191. 48273315 c.1025C>T p.P342L missense 0.00002433●●●●●●
192. 48267231 c.2602G>A p.A868T missense 0.00002160●●●●●●
193. 48271929 c.1515+5C>T splice site 0.00002112●●●●●●
194. 48271926 c.1515+8C>T splice site 0.00001996●●●●●●
195. 48271926 c.1515+8C>G splice site 0.00001996●●●●●●
196. 48269390 c.1984-5C>T splice site 0.00001904●●●●●●
197. 48267271 c.2562T>C splice site 0.00001872●●●●●●
198. 48275808 c.529G>A p.V177M missense 0.00001794●●●●●●
199. 48277108 c.298+6G>T splice site 0.00001755●●●●●●
200. 48272622 c.1270G>A p.G424S missense 0.00001751●●●●●●
201. 48263363 c.4024G>A p.G1342S missense 0.00001747●●●●●●
202. 48275093 c.696T>C splice site 0.00001737●●●●●●
203. 48276789 c.359G>A p.R120Q missense 0.00001735●●●●●●
204. 48264289 c.3532-6G>A splice site 0.00001728●●●●●●
205. 48278764 c.103+8C>G splice site 0.00001728●●●●●●
206. 48270402 c.1774C>A p.P592T missense 0.00001717●●●●●●
207. 48269223 c.2053C>T p.R685C missense 0.00001701●●●●●●
208. 48263379 c.4008C>T splice site 0.00001687●●●●●●
209. 48278811 c.64G>A p.G22S missense 0.00001687●●●●●●
210. 48278804 c.71A>G p.E24G missense 0.00001687●●●●●●
211. 48263378 c.4009G>A p.E1337K missense 0.00001687●●●●●●
212. 48265468 c.3250C>T p.R1084C missense 0.00001685●●●●●●
213. 48267355 c.2559+7G>T splice site 0.00001681●●●●●●
214. 48263347 c.4040A>G p.D1347G missense 0.00001681●●●●●●
215. 48275130 c.659G>A p.R220Q missense 0.00001678●●●●●●
216. 48264892 c.3376C>T p.P1126S missense 0.00001676●●●●●●
217. 48265467 c.3251G>A p.R1084H missense 0.00001676●●●●●●
218. 48267382 c.2539G>A p.A847T missense 0.00001675●●●●●●
219. 48268175 c.2343+3G>A splice site 0.00001671●●●●●●
220. 48269828 c.1983+8G>A splice site 0.00001670●●●●●●
221. 48267402 c.2519C>T p.P840L missense 0.00001668●●●●●●
222. 48266886 c.2681C>A p.P894H missense 0.00001667●●●●●●
223. 48266730 c.2829+8C>T splice site 0.00001666●●●●●●
224. 48267439 c.2482G>A p.E828K missense 0.00001666●●●●●●
225. 48267915 c.2386C>G p.R796G missense 0.00001665●●●●●●
226. 48267904 c.2397C>T splice site 0.00001665●●●●●●
227. 48267914 c.2387G>A p.R796H missense 0.00001665●●●●●●
228. 48267923 c.2378C>T p.T793I missense 0.00001665●●●●●●
229. 48266778 c.2789C>T p.P930L missense 0.00001664●●●●●●
230. 48277161 c.251C>G p.A84G missense 0.00001663●●●●●●
231. 48270214 c.1822-3C>A splice site 0.00001662●●●●●●
232. 48268197 c.2324C>A p.A775D missense 0.00001662●●●●●●
233. 48273553 c.965G>A p.R322H missense 0.00001661●●●●●●
234. 48272685 c.1207C>G p.P403A missense 0.00001660●●●●●●
235. 48265937 c.3161C>T p.P1054L missense 0.00001659●●●●●●
236. 48266003 c.3100-5G>A splice site 0.00001659●●●●●●
237. 48266283 c.3026C>A p.P1009H missense 0.00001659●●●●●●
238. 48277287 c.125A>G p.Q42R missense 0.00001658●●●●●●
239. 48273521 c.997C>T p.P333S missense 0.00001658●●●●●●
240. 48267734 c.2405G>A p.R802H missense 0.00001657●●●●●●
241. 48263186 c.4201G>A p.E1401K missense 0.00001657●●●●●●
242. 48271496 c.1663C>T p.P555S missense 0.00001656●●●●●●
243. 48271814 c.1516-6A>C splice site 0.00001656●●●●●●
244. 48262996 c.4262C>G p.A1421G missense 0.00001656●●●●●●
245. 48271816 c.1516-8C>T splice site 0.00001656●●●●●●
246. 48277243 c.169C>A p.P57T missense 0.00001655●●●●●●
247. 48262982 c.4276G>A p.V1426M missense 0.00001655●●●●●●
248. 48263306 c.4081G>C p.E1361Q missense 0.00001655●●●●●●
249. 48267752 c.2398-11T>C splice site 0.00001655●●●●●●
250. 48270188 c.1845G>T p.E615D missense 0.00001655●●●●●●
251. 48266311 c.2998A>G p.M1000V missense 0.00001655●●●●●●
252. 48266328 c.2981G>A p.R994H missense 0.00001654●●●●●●
253. 48266323 c.2986C>T p.P996S missense 0.00001654●●●●●●
254. 48263219 c.4168C>T p.L1390F missense 0.00001654●●●●●●
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509. 48274015 c.821A>G p.D274G missense 0.00000824●●●●●●
510. 48274420 c.755C>T p.A252V missense 0.00000824●●●●●●
511. 48263695 c.3988A>G p.M1330V missense 0.00000824●●●●●●
512. 48264165 c.3650G>A p.R1217Q missense 0.00000824●●●●●●
513. 48273842 c.903+3G>A splice site 0.00000824●●●●●●
514. 48263769 c.3914C>T p.P1305L missense 0.00000824●●●●●●
515. 48263720 c.3963G>C p.K1321N missense 0.00000824●●●●●●
516. 48263674 c.4005+4C>T splice site 0.00000824●●●●●●
517. 48270042 c.1888G>A p.E630K missense 0.00000824●●●●●●
518. 48263818 c.3865G>A p.V1289I missense 0.00000824●●●●●●
519. 48263779 c.3904C>T p.P1302S missense 0.00000824●●●●●●
520. 48264088 c.3727G>A p.E1243K missense 0.00000824●●●●●●
521. 48272795 c.1200T>C splice site 0.00000824●●●●●●
522. 48274015 c.821A>T p.D274V missense 0.00000824●●●●●●
523. 48274385 c.790A>T p.M264L missense 0.00000824●●●●●●
524. 48263701 c.3982G>A p.E1328K missense 0.00000824●●●●●●
525. 48264191 c.3624G>T p.K1208N missense 0.00000824●●●●●●
526. 48263725 c.3958G>A p.D1320N missense 0.00000824●●●●●●
527. 48264067 c.3748G>A p.G1250S missense 0.00000824●●●●●●
528. 48272796 c.1199A>G p.N400S missense 0.00000824●●●●●●
529. 48270051 c.1879C>A p.P627T missense 0.00000824●●●●●●
530. 48264150 c.3665A>G p.N1222S missense 0.00000824●●●●●●
531. 48263802 c.3881A>G p.E1294G missense 0.00000824●●●●●●
532. 48274001 c.835G>A p.D279N missense 0.00000824●●●●●●
533. 48263698 c.3985A>T p.S1329C missense 0.00000824●●●●●●
534. 48269994 c.1929+7C>A splice site 0.00000824●●●●●●
535. 48273896 c.859-7T>C splice site 0.00000824●●●●●●
536. 48263727 c.3956A>G p.K1319R missense 0.00000824●●●●●●
537. 48274534 c.750+7A>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.