COL5A2 variants in ExAC

COL5A2 gene summary
COL5A2 variants in

The table below lists the COL5A2 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. 189953508 c.568-10G>A splice site 0.14129234●●●●●●
2. 189932764 c.1378C>T p.P460S missense 0.03241008●●●●●●
3. 189940142 c.1081A>C p.M361L missense 0.01831738●●●●●●
4. 189931144 c.1535T>C p.V512A missense 0.01823110●●●●●●
5. 189918622 c.2498C>T p.P833L missense 0.01766122●●●●●●
6. 189943304 c.1006-9C>T splice site 0.01714192●●●●●●
7. 189904234 c.3689C>G p.T1230R missense 0.00463531●●●●●●
8. 189932742 c.1400C>T p.P467L missense 0.00277985●●●●●●
9. 189914122 c.3098C>T p.P1033L missense 0.00261042●●●●●●
10. 189932953 c.1301C>T p.T434M missense 0.00180473●●●●●●
11. 189916955 c.2716-4C>T splice site 0.00160796●●●●●●
12. 189925516 c.2032-7G>A splice site 0.00160278●●●●●●
13. 189926308 c.2011C>T p.P671S missense 0.00155180●●●●●●
14. 189899755 c.4240G>A p.D1414N missense 0.00098866●●●●●●
15. 189916110 c.2867G>C p.R956P missense 0.00083274●●●●●●
16. 189907869 c.3471+8A>T splice site 0.00062496●●●●●●
17. 189931456 c.1454C>A p.P485Q missense 0.00055373●●●●●●
18. 189922092 c.2291C>G p.P764R missense 0.00055297●●●●●●
19. 189909952 c.3316C>T p.R1106W missense 0.00049825●●●●●●
20. 189899700 c.4295A>T p.D1432V missense 0.00049447●●●●●●
21. 189927592 c.1976C>T p.P659L missense 0.00047852●●●●●●
22. 189898846 c.4450G>A p.G1484S missense 0.00033840●●●●●●
23. 189931449 c.1455+6G>T splice site 0.00030582●●●●●●
24. 189901388 c.4067A>G p.D1356G missense 0.00027390●●●●●●
25. 189916035 c.2931+11C>T splice site 0.00027189●●●●●●
26. 189974943 c.322+8T>C splice site 0.00025567●●●●●●
27. 189907941 c.3407G>A p.R1136Q missense 0.00024966●●●●●●
28. 189931477 c.1433A>T p.E478V missense 0.00024792●●●●●●
29. 189929777 c.1570C>T p.P524S missense 0.00024567●●●●●●
30. 189904195 c.3728G>A p.S1243N missense 0.00023192●●●●●●
31. 189916125 c.2852G>A p.G951E missense 0.00022288●●●●●●
32. 189949876 c.798+10C>T splice site 0.00022138●●●●●●
33. 189916212 c.2770-5A>G splice site 0.00020161●●●●●●
34. 189915387 c.2947C>T p.P983S missense 0.00019474●●●●●●
35. 189929366 c.1633C>T p.R545W missense 0.00016624●●●●●●
36. 189916093 c.2884C>A p.P962T missense 0.00016482●●●●●●
37. 189916123 c.2854C>T p.R952C missense 0.00015684●●●●●●
38. 189918922 c.2408T>C p.L803S missense 0.00015674●●●●●●
39. 189921758 c.2338-6T>C splice site 0.00015651●●●●●●
40. 189949935 c.749C>T p.P250L missense 0.00014528●●●●●●
41. 189915371 c.2963C>T p.T988M missense 0.00014486●●●●●●
42. 189948711 c.851C>T p.P284L missense 0.00013194●●●●●●
43. 189898801 c.4495G>T p.V1499L missense 0.00013194●●●●●●
44. 189929274 c.1716+9A>G splice site 0.00012507●●●●●●
45. 189932791 c.1351T>C p.S451P missense 0.00012371●●●●●●
46. 189975010 c.263C>A p.P88H missense 0.00012357●●●●●●
47. 189923588 c.2117C>T p.P706L missense 0.00011659●●●●●●
48. 189931449 c.1455+6G>A splice site 0.00011572●●●●●●
49. 189916131 c.2846C>G p.S949C missense 0.00011565●●●●●●
50. 189932993 c.1261G>A p.A421T missense 0.00011550●●●●●●
51. 189927728 c.1923+8T>C splice site 0.00010729●●●●●●
52. 189916926 c.2741C>T p.A914V missense 0.00010714●●●●●●
53. 189906332 c.3613G>A p.V1205I missense 0.00010708●●●●●●
54. 189918628 c.2492G>C p.G831A missense 0.00010269●●●●●●
55. 189898938 c.4358G>A p.R1453Q missense 0.00009946●●●●●●
56. 189907483 c.3488A>G p.Q1163R missense 0.00009917●●●●●●
57. 189904129 c.3794A>G p.D1265G missense 0.00009897●●●●●●
58. 189915296 c.3038C>T p.A1013V missense 0.00009686●●●●●●
59. 189898934 c.4362T>A p.N1454K missense 0.00009112●●●●●●
60. 189948710 c.852G>A p.P284P splice site 0.00009071●●●●●●
61. 189957029 c.567+7T>C splice site 0.00008408●●●●●●
62. 189910626 c.3209G>A p.R1070H missense 0.00008274●●●●●●
63. 189927746 c.1913C>T p.P638L missense 0.00008263●●●●●●
64. 189904132 c.3791C>T p.T1264M missense 0.00008249●●●●●●
65. 189974950 c.322+1G>C essential splice site 0.00008245●●●●●●
66. 189951500 c.646-4dupT splice site 0.00007968●●●●●●
67. 189907963 c.3385G>A p.D1129N missense 0.00007566●●●●●●
68. 189918907 c.2423C>T p.P808L missense 0.00007423●●●●●●
69. 189907941 c.3407G>T p.R1136L missense 0.00006658●●●●●●
70. 189932962 c.1292A>G p.K431R missense 0.00006593●●●●●●
71. 189916095 c.2882C>T p.P961L missense 0.00006593●●●●●●
72. 189962022 c.437G>A p.R146Q missense 0.00006592●●●●●●
73. 189975040 c.233A>T p.D78V missense 0.00006590●●●●●●
74. 189906331 c.3614T>C p.V1205A missense 0.00006590●●●●●●
75. 189929721 c.1617+9G>T splice site 0.00006118●●●●●●
76. 189904265 c.3658C>T p.P1220S missense 0.00006020●●●●●●
77. 189923594 c.2111T>C p.V704A missense 0.00005823●●●●●●
78. 189948769 c.799-6A>G splice site 0.00005787●●●●●●
79. 189912966 c.3170C>A p.T1057N missense 0.00005782●●●●●●
80. 189916122 c.2855G>A p.R952H missense 0.00005777●●●●●●
81. 189943280 c.1021C>T p.P341S missense 0.00005767●●●●●●
82. 189914156 c.3064A>C p.T1022P missense 0.00005619●●●●●●
83. 189907936 c.3412G>A p.D1138N missense 0.00005036●●●●●●
84. 189933543 c.1226C>T p.P409L missense 0.00005019●●●●●●
85. 189923613 c.2092C>T p.P698S missense 0.00004996●●●●●●
86. 189929341 c.1658C>T p.P553L missense 0.00004978●●●●●●
87. 189943809 c.985A>G p.M329V missense 0.00004971●●●●●●
88. 189904190 c.3733C>T p.P1245S missense 0.00004970●●●●●●
89. 189910627 c.3208C>T p.R1070C missense 0.00004967●●●●●●
90. 189969009 c.323-6T>C splice site 0.00004967●●●●●●
91. 189931498 c.1412G>C p.G471A missense 0.00004963●●●●●●
92. 189912958 c.3178C>T p.R1060W missense 0.00004955●●●●●●
93. 189926285 c.2031+3A>G splice site 0.00004954●●●●●●
94. 189910527 c.3308C>T p.P1103L missense 0.00004951●●●●●●
95. 189922120 c.2263A>C p.T755P missense 0.00004947●●●●●●
96. 189932832 c.1310C>T p.P437L missense 0.00004946●●●●●●
97. 189953479 c.587C>A p.A196D missense 0.00004944●●●●●●
98. 189953496 c.570G>A p.P190P splice site 0.00004944●●●●●●
99. 189904043 c.3880C>T p.R1294C missense 0.00004943●●●●●●
100. 189915288 c.3039+7A>G splice site 0.00004852●●●●●●
101. 189915295 c.3039G>A splice site 0.00004844●●●●●●
102. 189915323 c.3011G>A p.R1004K missense 0.00004821●●●●●●
103. 189918632 c.2488C>T p.R830W missense 0.00004262●●●●●●
104. 189904247 c.3676C>T p.P1226S missense 0.00004236●●●●●●
105. 189927992 c.1775C>G p.A592G missense 0.00004158●●●●●●
106. 189927974 c.1793G>A p.R598H missense 0.00004143●●●●●●
107. 189918170 c.2533G>A p.V845I missense 0.00004133●●●●●●
108. 189904148 c.3775G>A p.D1259N missense 0.00004128●●●●●●
109. 189962059 c.403-3T>C splice site 0.00004127●●●●●●
110. 189904010 c.3913G>A p.A1305T missense 0.00004120●●●●●●
111. 189943281 c.1020G>A p.M340I missense 0.00004119●●●●●●
112. 189974989 c.284T>A p.V95D missense 0.00004119●●●●●●
113. 190044330 c.1A>G p.M1V missense 0.00004095●●●●●●
114. 190044326 c.5T>C p.M2T missense 0.00003969●●●●●●
115. 189957139 c.464G>A p.R155H missense 0.00003791●●●●●●
116. 189909961 c.3310-3T>A splice site 0.00003459●●●●●●
117. 189907975 c.3373G>A p.G1125R missense 0.00003419●●●●●●
118. 189918652 c.2468T>C p.L823S missense 0.00003407●●●●●●
119. 189918649 c.2471T>C p.V824A missense 0.00003404●●●●●●
120. 189950502 c.691-4G>A splice site 0.00003320●●●●●●
121. 189963472 c.383G>A p.R128H missense 0.00003318●●●●●●
122. 189917479 c.2711C>T p.P904L missense 0.00003313●●●●●●
123. 189927953 c.1814T>C p.I605T missense 0.00003308●●●●●●
124. 189912937 c.3199C>T p.R1067C missense 0.00003307●●●●●●
125. 189948706 c.852+4A>T splice site 0.00003299●●●●●●
126. 189923214 c.2170A>G p.I724V missense 0.00003299●●●●●●
127. 189899670 c.4325G>A p.R1442Q missense 0.00003299●●●●●●
128. 189916110 c.2867G>A p.R956Q missense 0.00003298●●●●●●
129. 189904004 c.3919C>G p.Q1307E missense 0.00003297●●●●●●
130. 189931201 c.1478C>T p.P493L missense 0.00003296●●●●●●
131. 189975106 c.167C>T p.P56L missense 0.00003296●●●●●●
132. 189932952 c.1302G>A p.T434T splice site 0.00003296●●●●●●
133. 189975035 c.238C>G p.L80V missense 0.00003295●●●●●●
134. 189904042 c.3881G>A p.R1294H missense 0.00003295●●●●●●
135. 189949943 c.745-4T>C splice site 0.00003256●●●●●●
136. 189907882 c.3466C>T p.P1156S missense 0.00002827●●●●●●
137. 189957067 c.536C>T p.P179L missense 0.00002766●●●●●●
138. 189914149 c.3071C>T p.A1024V missense 0.00002764●●●●●●
139. 189916213 c.2770-6T>C splice site 0.00002759●●●●●●
140. 189933617 c.1159-7C>A splice site 0.00002685●●●●●●
141. 189951493 c.649C>T p.P217S missense 0.00002625●●●●●●
142. 189909925 c.3343G>C p.A1115P missense 0.00002579●●●●●●
143. 189918631 c.2489G>A p.R830Q missense 0.00002560●●●●●●
144. 189907968 c.3380G>A p.R1127H missense 0.00002535●●●●●●
145. 189907926 c.3422A>C p.Q1141P missense 0.00002528●●●●●●
146. 189904234 c.3689C>T p.T1230I missense 0.00002519●●●●●●
147. 189929378 c.1621G>T p.A541S missense 0.00002501●●●●●●
148. 189929284 c.1715G>A p.R572Q missense 0.00002497●●●●●●
149. 189901370 c.4085A>G p.Y1362C missense 0.00002493●●●●●●
150. 189943786 c.1005+3A>G splice site 0.00002492●●●●●●
151. 189963457 c.398C>T p.P133L missense 0.00002485●●●●●●
152. 189950492 c.697G>A p.A233T missense 0.00002482●●●●●●
153. 189940147 c.1076A>G p.H359R missense 0.00002480●●●●●●
154. 189918169 c.2534T>C p.V845A missense 0.00002480●●●●●●
155. 189918196 c.2507G>A p.R836Q missense 0.00002479●●●●●●
156. 189945766 c.856G>A p.A286T missense 0.00002478●●●●●●
157. 189904156 c.3767C>T p.A1256V missense 0.00002478●●●●●●
158. 189945739 c.883C>T p.L295F missense 0.00002476●●●●●●
159. 189945717 c.905G>C p.R302P missense 0.00002476●●●●●●
160. 189945720 c.902A>G p.H301R missense 0.00002476●●●●●●
161. 189944718 c.946G>A p.A316T missense 0.00002476●●●●●●
162. 189927608 c.1960G>A p.G654S missense 0.00002474●●●●●●
163. 189931216 c.1463A>G p.H488R missense 0.00002473●●●●●●
164. 189899688 c.4307A>G p.E1436G missense 0.00002473●●●●●●
165. 189953497 c.569C>T p.P190L missense 0.00002472●●●●●●
166. 189943234 c.1059+8T>C splice site 0.00002472●●●●●●
167. 189974974 c.299C>G p.P100R missense 0.00002471●●●●●●
168. 189957152 c.457-6T>A splice site 0.00002372●●●●●●
169. 189957149 c.457-3C>T splice site 0.00002273●●●●●●
170. 190044267 c.64G>A p.V22I missense 0.00002036●●●●●●
171. 190044245 c.86A>G p.E29G missense 0.00002033●●●●●●
172. 189957140 c.463C>T p.R155C missense 0.00002013●●●●●●
173. 189914098 c.3122G>C p.G1041A missense 0.00001940●●●●●●
174. 189914101 c.3119A>G p.N1040S missense 0.00001914●●●●●●
175. 189909900 c.3363+5G>A splice site 0.00001864●●●●●●
176. 189914129 c.3091C>T p.P1031S missense 0.00001813●●●●●●
177. 189929791 c.1564-8A>T splice site 0.00001797●●●●●●
178. 189957038 c.565A>T p.R189W missense 0.00001780●●●●●●
179. 189904277 c.3646G>A p.E1216K missense 0.00001757●●●●●●
180. 189909915 c.3353G>A p.R1118H missense 0.00001744●●●●●●
181. 189917749 c.2554-5T>C splice site 0.00001742●●●●●●
182. 189909927 c.3341G>A p.R1114Q missense 0.00001717●●●●●●
183. 189909951 c.3317G>A p.R1106Q missense 0.00001717●●●●●●
184. 189909943 c.3325A>G p.I1109V missense 0.00001712●●●●●●
185. 189928702 c.1770+4A>G splice site 0.00001708●●●●●●
186. 189916177 c.2800G>C p.E934Q missense 0.00001702●●●●●●
187. 189918644 c.2476C>T p.P826S missense 0.00001700●●●●●●
188. 189928711 c.1765C>T p.P589S missense 0.00001693●●●●●●
189. 189928762 c.1717-3C>T splice site 0.00001682●●●●●●
190. 189901350 c.4105G>C p.G1369R missense 0.00001681●●●●●●
191. 189928000 c.1771-4A>G splice site 0.00001665●●●●●●
192. 189929374 c.1625A>T p.Q542L missense 0.00001665●●●●●●
193. 189929285 c.1714C>T p.R572W missense 0.00001665●●●●●●
194. 189925457 c.2084A>C p.Q695P missense 0.00001664●●●●●●
195. 189923601 c.2104G>A p.G702R missense 0.00001663●●●●●●
196. 189927992 c.1775C>T p.A592V missense 0.00001663●●●●●●
197. 189963479 c.376G>A p.G126S missense 0.00001662●●●●●●
198. 189916147 c.2830C>T p.R944C missense 0.00001660●●●●●●
199. 189901379 c.4076C>T p.P1359L missense 0.00001660●●●●●●
200. 189917723 c.2575G>A p.V859I missense 0.00001659●●●●●●
201. 189898939 c.4357C>T p.R1453W missense 0.00001658●●●●●●
202. 189963467 c.388C>T p.R130C missense 0.00001658●●●●●●
203. 189963466 c.389G>A p.R130H missense 0.00001658●●●●●●
204. 189963455 c.400G>T p.A134S missense 0.00001657●●●●●●
205. 189927971 c.1796C>T p.P599L missense 0.00001657●●●●●●
206. 189898927 c.4369G>A p.V1457M missense 0.00001656●●●●●●
207. 189917637 c.2661T>C splice site 0.00001656●●●●●●
208. 189904196 c.3727A>T p.S1243C missense 0.00001656●●●●●●
209. 189940121 c.1102A>G p.M368V missense 0.00001656●●●●●●
210. 189943830 c.964G>A p.E322K missense 0.00001655●●●●●●
211. 189944762 c.907-5C>A splice site 0.00001655●●●●●●
212. 189917657 c.2641G>A p.A881T missense 0.00001654●●●●●●
213. 189912936 c.3200G>A p.R1067H missense 0.00001654●●●●●●
214. 189917522 c.2668A>G p.N890D missense 0.00001654●●●●●●
215. 189940142 c.1081A>G p.M361V missense 0.00001653●●●●●●
216. 189918196 c.2507G>C p.R836P missense 0.00001653●●●●●●
217. 189945777 c.853-8C>T splice site 0.00001653●●●●●●
218. 189917665 c.2633A>G p.Q878R missense 0.00001653●●●●●●
219. 189927741 c.1918C>G p.Q640E missense 0.00001652●●●●●●
220. 189927911 c.1856C>A p.P619H missense 0.00001652●●●●●●
221. 189922081 c.2302G>A p.G768R missense 0.00001652●●●●●●
222. 189945763 c.859C>T p.R287C missense 0.00001652●●●●●●
223. 189912967 c.3169A>G p.T1057A missense 0.00001652●●●●●●
224. 189923156 c.2228A>C p.K743T missense 0.00001652●●●●●●
225. 189927905 c.1862G>A p.G621D missense 0.00001651●●●●●●
226. 189898845 c.4451G>A p.G1484D missense 0.00001650●●●●●●
227. 189899879 c.4116C>T splice site 0.00001650●●●●●●
228. 189899649 c.4346C>A p.T1449N missense 0.00001650●●●●●●
229. 189899679 c.4316T>C p.I1439T missense 0.00001649●●●●●●
230. 189923223 c.2161G>A p.E721K missense 0.00001649●●●●●●
231. 189923184 c.2200G>A p.A734T missense 0.00001649●●●●●●
232. 189931216 c.1463A>C p.H488P missense 0.00001649●●●●●●
233. 189899662 c.4333G>A p.V1445I missense 0.00001649●●●●●●
234. 189898797 c.4499A>C p.Ter1500SerextTer14 nonsense 0.00001649●●●●●●
235. 189923228 c.2156G>A p.R719K missense 0.00001649●●●●●●
236. 189931220 c.1459C>T p.P487S missense 0.00001649●●●●●●
237. 189899663 c.4332C>G p.I1444M missense 0.00001649●●●●●●
238. 189898825 c.4471G>A p.V1491I missense 0.00001649●●●●●●
239. 189922129 c.2254C>T p.P752S missense 0.00001649●●●●●●
240. 189899832 c.4163C>G p.T1388S missense 0.00001649●●●●●●
241. 189932835 c.1307C>T p.S436F missense 0.00001648●●●●●●
242. 189904076 c.3847C>T p.R1283C missense 0.00001648●●●●●●
243. 189916096 c.2881C>T p.P961S missense 0.00001648●●●●●●
244. 189974971 c.302G>A p.G101E missense 0.00001648●●●●●●
245. 189906378 c.3567C>A p.N1189K missense 0.00001648●●●●●●
246. 189953497 c.569C>A p.P190Q missense 0.00001648●●●●●●
247. 189931187 c.1492G>A p.G498S missense 0.00001648●●●●●●
248. 189943293 c.1008T>C splice site 0.00001648●●●●●●
249. 189957043 c.560T>G p.L187W missense 0.00001642●●●●●●
250. 189957049 c.554A>G p.D185G missense 0.00001544●●●●●●
251. 189957050 c.553G>A p.D185N missense 0.00001537●●●●●●
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512. 189916905 c.2762G>C p.G921A missense 0.00000824●●●●●●
513. 189974977 c.296C>T p.T99I missense 0.00000824●●●●●●
514. 189975013 c.260C>T p.T87M missense 0.00000824●●●●●●
515. 189904087 c.3836T>C p.I1279T missense 0.00000824●●●●●●
516. 189904050 c.3873C>G p.H1291Q missense 0.00000824●●●●●●
517. 189931221 c.1458G>A p.G486G splice site 0.00000824●●●●●●
518. 189916084 c.2893C>G p.P965A missense 0.00000824●●●●●●
519. 189927641 c.1927G>A p.A643T missense 0.00000824●●●●●●
520. 189953464 c.602A>C p.K201T missense 0.00000824●●●●●●
521. 189906371 c.3574C>A p.P1192T missense 0.00000824●●●●●●
522. 189975086 c.187G>A p.V63I missense 0.00000824●●●●●●
523. 189974968 c.305G>A p.G102D missense 0.00000824●●●●●●
524. 189943291 c.1010C>T p.P337L missense 0.00000824●●●●●●
525. 189910566 c.3269C>A p.P1090H missense 0.00000824●●●●●●
526. 189904040 c.3883A>G p.T1295A missense 0.00000824●●●●●●
527. 189899823 c.4172G>A p.R1391H missense 0.00000824●●●●●●
528. 189916919 c.2748A>T p.R916S missense 0.00000824●●●●●●
529. 189899778 c.4217A>G p.K1406R missense 0.00000824●●●●●●
530. 189931147 c.1532C>G p.T511R missense 0.00000824●●●●●●
531. 189975023 c.250G>C p.D84H missense 0.00000824●●●●●●
532. 189916042 c.2931+4A>T splice site 0.00000824●●●●●●
533. 189904088 c.3835A>G p.I1279V missense 0.00000824●●●●●●
534. 189904075 c.3848G>A p.R1283H missense 0.00000824●●●●●●
535. 189932833 c.1309C>T p.P437S missense 0.00000824●●●●●●
536. 189904091 c.3832C>A p.Q1278K missense 0.00000824●●●●●●
537. 189953467 c.599A>C p.E200A missense 0.00000824●●●●●●
538. 189931214 c.1465G>A p.G489S missense 0.00000824●●●●●●
539. 189975088 c.185G>T p.C62F missense 0.00000824●●●●●●
540. 189931117 c.1562G>A p.R521K missense 0.00000824●●●●●●
541. 189906313 c.3632A>G p.E1211G missense 0.00000824●●●●●●
542. 189943294 c.1007G>C p.G336A missense 0.00000824●●●●●●
543. 189921721 c.2369C>T p.T790I missense 0.00000824●●●●●●
544. 189910567 c.3268C>T p.P1090S missense 0.00000824●●●●●●
545. 189961997 c.456+6T>A splice site 0.00000824●●●●●●
546. 189916923 c.2744G>A p.G915D missense 0.00000824●●●●●●
547. 189906379 c.3566A>C p.N1189T missense 0.00000824●●●●●●
548. 189899832 c.4163C>A p.T1388N missense 0.00000824●●●●●●
549. 189953428 c.638G>C p.G213A 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.