COL1A1 missense variants in ExAC

COL1A1 gene summary
COL1A1 variants in

The table below lists the COL1A1 missense 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. 48275339 c.613C>G p.P205A missense 0.00358358●●●●●●
3. 48272827 c.1168G>A p.A390T missense 0.00128511●●●●●●
4. 48263206 c.4181A>G p.N1394S missense 0.00088573●●●●●●
5. 48262871 c.4387T>C p.F1463L missense 0.00086803●●●●●●
6. 48272643 c.1249C>G p.P417A missense 0.00086230●●●●●●
7. 48263369 c.4018G>A p.G1340S missense 0.00072625●●●●●●
8. 48270160 c.1873G>A p.A625T missense 0.00062818●●●●●●
9. 48268812 c.2167G>A p.A723T missense 0.00059419●●●●●●
10. 48268811 c.2168C>T p.A723V missense 0.00050342●●●●●●
11. 48267454 c.2467C>G p.P823A missense 0.00035036●●●●●●
12. 48267725 c.2414C>T p.P805L missense 0.00033177●●●●●●
13. 48278798 c.77G>A p.G26D missense 0.00032925●●●●●●
14. 48273298 c.1042G>A p.A348T missense 0.00027367●●●●●●
15. 48264049 c.3766G>A p.A1256T missense 0.00027210●●●●●●
16. 48266851 c.2716G>A p.G906S missense 0.00026587●●●●●●
17. 48263718 c.3965G>A p.R1322K missense 0.00021415●●●●●●
18. 48271380 c.1691G>A p.R564H missense 0.00019804●●●●●●
19. 48276925 c.325G>C p.G109R missense 0.00018985●●●●●●
20. 48264244 c.3571C>G p.P1191A missense 0.00015806●●●●●●
21. 48266141 c.3061G>C p.E1021Q missense 0.00015682●●●●●●
22. 48270048 c.1882G>A p.A628T missense 0.00015659●●●●●●
23. 48266534 c.2932C>T p.P978S missense 0.00014394●●●●●●
24. 48269207 c.2069C>T p.P690L missense 0.00014215●●●●●●
25. 48276663 c.395A>G p.D132G missense 0.00013048●●●●●●
26. 48265974 c.3124G>A p.A1042T missense 0.00012459●●●●●●
27. 48264078 c.3737G>A p.R1246Q missense 0.00012359●●●●●●
28. 48263834 c.3849C>A p.N1283K missense 0.00011533●●●●●●
29. 48273295 c.1045G>T p.V349F missense 0.00011227●●●●●●
30. 48266309 c.3000G>C p.M1000I missense 0.00010761●●●●●●
31. 48265485 c.3233T>C p.V1078A missense 0.00010537●●●●●●
32. 48277279 c.133C>G p.L45V missense 0.00009941●●●●●●
33. 48271741 c.1583G>A p.R528H missense 0.00009916●●●●●●
34. 48276673 c.385C>T p.P129S missense 0.00009664●●●●●●
35. 48271396 c.1675G>A p.A559T missense 0.00009096●●●●●●
36. 48272643 c.1249C>T p.P417S missense 0.00008538●●●●●●
37. 48269364 c.2005G>A p.A669T missense 0.00008347●●●●●●
38. 48265328 c.3278G>A p.R1093H missense 0.00008261●●●●●●
39. 48274551 c.740C>T p.P247L missense 0.00008245●●●●●●
40. 48272168 c.1375C>A p.P459T missense 0.00007918●●●●●●
41. 48276804 c.344G>A p.G115E missense 0.00007619●●●●●●
42. 48265902 c.3196C>T p.R1066C missense 0.00007468●●●●●●
43. 48270195 c.1838A>G p.D613G missense 0.00007453●●●●●●
44. 48266365 c.2944C>A p.P982T missense 0.00007445●●●●●●
45. 48264220 c.3595A>G p.S1199G missense 0.00007430●●●●●●
46. 48269204 c.2072C>T p.P691L missense 0.00007225●●●●●●
47. 48273002 c.1081C>G p.R361G missense 0.00006715●●●●●●
48. 48269186 c.2090G>A p.R697Q missense 0.00006310●●●●●●
49. 48265929 c.3169G>A p.V1057I missense 0.00005806●●●●●●
50. 48264060 c.3755G>A p.R1252H missense 0.00005769●●●●●●
51. 48267225 c.2608C>T p.P870S missense 0.00005409●●●●●●
52. 48263357 c.4030G>A p.D1344N missense 0.00005126●●●●●●
53. 48269222 c.2054G>A p.R685H missense 0.00005114●●●●●●
54. 48266794 c.2773C>G p.P925A missense 0.00004985●●●●●●
55. 48277268 c.144T>A p.H48Q missense 0.00004968●●●●●●
56. 48263306 c.4081G>A p.E1361K missense 0.00004964●●●●●●
57. 48263255 c.4132G>A p.D1378N missense 0.00004958●●●●●●
58. 48268233 c.2288G>A p.R763H missense 0.00004954●●●●●●
59. 48263704 c.3979G>A p.G1327S missense 0.00004942●●●●●●
60. 48273322 c.1018G>A p.A340T missense 0.00004746●●●●●●
61. 48269177 c.2099A>T p.N700I missense 0.00004620●●●●●●
62. 48273328 c.1012G>A p.G338S missense 0.00004588●●●●●●
63. 48263326 c.4061T>G p.F1354C missense 0.00004144●●●●●●
64. 48272974 c.1109G>A p.R370H missense 0.00004143●●●●●●
65. 48262886 c.4372G>A p.V1458I missense 0.00004132●●●●●●
66. 48272930 c.1153G>A p.A385T missense 0.00004126●●●●●●
67. 48272183 c.1360G>A p.V454I missense 0.00004006●●●●●●
68. 48272177 c.1366G>A p.V456I missense 0.00003979●●●●●●
69. 48272167 c.1376C>T p.P459L missense 0.00003963●●●●●●
70. 48272168 c.1375C>T p.P459S missense 0.00003959●●●●●●
71. 48271984 c.1465G>A p.G489R missense 0.00003756●●●●●●
72. 48272096 c.1447C>T p.P483S missense 0.00003732●●●●●●
73. 48272095 c.1448C>A p.P483H missense 0.00003724●●●●●●
74. 48272111 c.1432A>G p.T478A missense 0.00003713●●●●●●
75. 48272111 c.1432A>T p.T478S missense 0.00003713●●●●●●
76. 48272104 c.1439T>C p.L480P missense 0.00003695●●●●●●
77. 48275833 c.504T>G p.D168E missense 0.00003630●●●●●●
78. 48269868 c.1951C>T p.P651S missense 0.00003567●●●●●●
79. 48265471 c.3247G>A p.A1083T missense 0.00003485●●●●●●
80. 48263348 c.4039G>A p.D1347N missense 0.00003361●●●●●●
81. 48265467 c.3251G>T p.R1084L missense 0.00003353●●●●●●
82. 48265959 c.3139G>C p.A1047P missense 0.00003319●●●●●●
83. 48265992 c.3106C>T p.R1036C missense 0.00003317●●●●●●
84. 48263192 c.4195C>T p.R1399C missense 0.00003313●●●●●●
85. 48277234 c.178A>T p.I60F missense 0.00003309●●●●●●
86. 48271350 c.1721G>A p.R574H missense 0.00003302●●●●●●
87. 48271377 c.1694C>T p.P565L missense 0.00003301●●●●●●
88. 48268763 c.2216C>T p.P739L missense 0.00003298●●●●●●
89. 48263689 c.3994G>A p.D1332N missense 0.00003295●●●●●●
90. 48263818 c.3865G>C p.V1289L missense 0.00003295●●●●●●
91. 48264135 c.3680G>A p.R1227H missense 0.00003295●●●●●●
92. 48267239 c.2594G>A p.R865H missense 0.00003143●●●●●●
93. 48269160 c.2116G>A p.D706N missense 0.00003110●●●●●●
94. 48275856 c.481C>T p.P161S missense 0.00002905●●●●●●
95. 48273303 c.1037C>T p.P346L missense 0.00002620●●●●●●
96. 48272624 c.1268C>T p.P423L missense 0.00002613●●●●●●
97. 48273304 c.1036C>T p.P346S missense 0.00002594●●●●●●
98. 48273021 c.1062A>T p.E354D missense 0.00002582●●●●●●
99. 48264477 c.3430C>T p.P1144S missense 0.00002558●●●●●●
100. 48270393 c.1783G>T p.A595S missense 0.00002557●●●●●●
101. 48271947 c.1502T>C p.V501A missense 0.00002554●●●●●●
102. 48278787 c.88G>C p.G30R missense 0.00002537●●●●●●
103. 48267457 c.2464C>G p.Q822E missense 0.00002504●●●●●●
104. 48266797 c.2770C>T p.P924S missense 0.00002492●●●●●●
105. 48268198 c.2323G>A p.A775T missense 0.00002492●●●●●●
106. 48266830 c.2737A>G p.T913A missense 0.00002491●●●●●●
107. 48273539 c.979G>T p.A327S missense 0.00002487●●●●●●
108. 48273535 c.983C>A p.T328N missense 0.00002487●●●●●●
109. 48263191 c.4196G>A p.R1399H missense 0.00002485●●●●●●
110. 48264235 c.3580G>A p.A1194T missense 0.00002484●●●●●●
111. 48277183 c.229G>A p.E77K missense 0.00002484●●●●●●
112. 48270172 c.1861C>A p.P621T missense 0.00002482●●●●●●
113. 48263303 c.4084G>T p.A1362S missense 0.00002482●●●●●●
114. 48271802 c.1522G>A p.A508T missense 0.00002481●●●●●●
115. 48272951 c.1132C>G p.P378A missense 0.00002480●●●●●●
116. 48262951 c.4307G>A p.R1436H missense 0.00002480●●●●●●
117. 48262882 c.4376G>C p.G1459A missense 0.00002479●●●●●●
118. 48262919 c.4339G>A p.V1447I missense 0.00002478●●●●●●
119. 48265329 c.3277C>T p.R1093C missense 0.00002478●●●●●●
120. 48276919 c.331G>A p.E111K missense 0.00002477●●●●●●
121. 48268799 c.2180A>G p.Q727R missense 0.00002474●●●●●●
122. 48264196 c.3619G>A p.E1207K missense 0.00002473●●●●●●
123. 48264082 c.3733A>T p.I1245F missense 0.00002472●●●●●●
124. 48263785 c.3898G>A p.V1300M missense 0.00002471●●●●●●
125. 48273315 c.1025C>T p.P342L missense 0.00002433●●●●●●
126. 48267231 c.2602G>A p.A868T missense 0.00002160●●●●●●
127. 48275808 c.529G>A p.V177M missense 0.00001794●●●●●●
128. 48272622 c.1270G>A p.G424S missense 0.00001751●●●●●●
129. 48263363 c.4024G>A p.G1342S missense 0.00001747●●●●●●
130. 48276789 c.359G>A p.R120Q missense 0.00001735●●●●●●
131. 48270402 c.1774C>A p.P592T missense 0.00001717●●●●●●
132. 48269223 c.2053C>T p.R685C missense 0.00001701●●●●●●
133. 48278811 c.64G>A p.G22S missense 0.00001687●●●●●●
134. 48278804 c.71A>G p.E24G missense 0.00001687●●●●●●
135. 48263378 c.4009G>A p.E1337K missense 0.00001687●●●●●●
136. 48265468 c.3250C>T p.R1084C missense 0.00001685●●●●●●
137. 48263347 c.4040A>G p.D1347G missense 0.00001681●●●●●●
138. 48275130 c.659G>A p.R220Q missense 0.00001678●●●●●●
139. 48264892 c.3376C>T p.P1126S missense 0.00001676●●●●●●
140. 48265467 c.3251G>A p.R1084H missense 0.00001676●●●●●●
141. 48267382 c.2539G>A p.A847T missense 0.00001675●●●●●●
142. 48267402 c.2519C>T p.P840L missense 0.00001668●●●●●●
143. 48266886 c.2681C>A p.P894H missense 0.00001667●●●●●●
144. 48267439 c.2482G>A p.E828K missense 0.00001666●●●●●●
145. 48267915 c.2386C>G p.R796G missense 0.00001665●●●●●●
146. 48267923 c.2378C>T p.T793I missense 0.00001665●●●●●●
147. 48267914 c.2387G>A p.R796H missense 0.00001665●●●●●●
148. 48266778 c.2789C>T p.P930L missense 0.00001664●●●●●●
149. 48277161 c.251C>G p.A84G missense 0.00001663●●●●●●
150. 48268197 c.2324C>A p.A775D missense 0.00001662●●●●●●
151. 48273553 c.965G>A p.R322H missense 0.00001661●●●●●●
152. 48272685 c.1207C>G p.P403A missense 0.00001660●●●●●●
153. 48265937 c.3161C>T p.P1054L missense 0.00001659●●●●●●
154. 48266283 c.3026C>A p.P1009H missense 0.00001659●●●●●●
155. 48277287 c.125A>G p.Q42R missense 0.00001658●●●●●●
156. 48273521 c.997C>T p.P333S missense 0.00001658●●●●●●
157. 48267734 c.2405G>A p.R802H missense 0.00001657●●●●●●
158. 48263186 c.4201G>A p.E1401K missense 0.00001657●●●●●●
159. 48262996 c.4262C>G p.A1421G missense 0.00001656●●●●●●
160. 48271496 c.1663C>T p.P555S missense 0.00001656●●●●●●
161. 48270188 c.1845G>T p.E615D missense 0.00001655●●●●●●
162. 48266311 c.2998A>G p.M1000V missense 0.00001655●●●●●●
163. 48277243 c.169C>A p.P57T missense 0.00001655●●●●●●
164. 48262982 c.4276G>A p.V1426M missense 0.00001655●●●●●●
165. 48263306 c.4081G>C p.E1361Q missense 0.00001655●●●●●●
166. 48266323 c.2986C>T p.P996S missense 0.00001654●●●●●●
167. 48263219 c.4168C>T p.L1390F missense 0.00001654●●●●●●
168. 48266328 c.2981G>A p.R994H missense 0.00001654●●●●●●
169. 48263233 c.4154A>G p.K1385R missense 0.00001653●●●●●●
170. 48268237 c.2284G>C p.V762L missense 0.00001652●●●●●●
171. 48262941 c.4317C>G p.I1439M missense 0.00001652●●●●●●
172. 48262889 c.4369G>A p.D1457N missense 0.00001652●●●●●●
173. 48271778 c.1546C>T p.P516S missense 0.00001652●●●●●●
174. 48276938 c.312C>G p.D104E missense 0.00001651●●●●●●
175. 48264046 c.3769C>T p.R1257C missense 0.00001650●●●●●●
176. 48266108 c.3094G>A p.A1032T missense 0.00001650●●●●●●
177. 48271378 c.1693C>T p.P565S missense 0.00001650●●●●●●
178. 48264036 c.3779G>A p.R1260H missense 0.00001649●●●●●●
179. 48274560 c.731G>A p.R244H missense 0.00001649●●●●●●
180. 48274554 c.737C>T p.P246L missense 0.00001649●●●●●●
181. 48264141 c.3674G>A p.R1225H missense 0.00001648●●●●●●
182. 48264155 c.3660T>G p.D1220E missense 0.00001647●●●●●●
183. 48269242 c.2034G>C p.E678D missense 0.00001604●●●●●●
184. 48265459 c.3259G>A p.A1087T missense 0.00001469●●●●●●
185. 48269847 c.1972C>T p.P658S missense 0.00001131●●●●●●
186. 48264459 c.3448C>T p.P1150S missense 0.00001071●●●●●●
187. 48273703 c.929G>A p.R310K missense 0.00001004●●●●●●
188. 48267260 c.2573C>G p.A858G missense 0.00000968●●●●●●
189. 48267261 c.2572G>A p.A858T missense 0.00000963●●●●●●
190. 48273722 c.910C>T p.R304C missense 0.00000944●●●●●●
191. 48269369 c.2000T>C p.L667P missense 0.00000931●●●●●●
192. 48273725 c.907C>T p.P303S missense 0.00000930●●●●●●
193. 48269364 c.2005G>T p.A669S missense 0.00000927●●●●●●
194. 48269346 c.2023G>A p.A675T missense 0.00000920●●●●●●
195. 48275820 c.517G>A p.G173R missense 0.00000899●●●●●●
196. 48272616 c.1276C>T p.P426S missense 0.00000879●●●●●●
197. 48278856 c.19C>T p.L7F missense 0.00000861●●●●●●
198. 48272634 c.1258C>T p.P420S missense 0.00000861●●●●●●
199. 48277122 c.290A>G p.D97G missense 0.00000859●●●●●●
200. 48273020 c.1063G>A p.A355T missense 0.00000859●●●●●●
201. 48276792 c.356C>G p.P119R missense 0.00000858●●●●●●
202. 48277123 c.289G>A p.D97N missense 0.00000858●●●●●●
203. 48272640 c.1252T>A p.S418T missense 0.00000857●●●●●●
204. 48278853 c.22C>T p.R8W missense 0.00000856●●●●●●
205. 48264280 c.3535C>T p.P1179S missense 0.00000854●●●●●●
206. 48277125 c.287C>T p.P96L missense 0.00000854●●●●●●
207. 48264279 c.3536C>T p.P1179L missense 0.00000853●●●●●●
208. 48270393 c.1783G>C p.A595P missense 0.00000852●●●●●●
209. 48264277 c.3538C>A p.P1180T missense 0.00000851●●●●●●
210. 48264274 c.3541G>A p.G1181S missense 0.00000850●●●●●●
211. 48272648 c.1244G>A p.R415Q missense 0.00000849●●●●●●
212. 48278841 c.34C>T p.L12F missense 0.00000849●●●●●●
213. 48277132 c.280G>A p.V94I missense 0.00000848●●●●●●
214. 48265274 c.3332G>A p.R1111H missense 0.00000848●●●●●●
215. 48270383 c.1793G>A p.R598Q missense 0.00000846●●●●●●
216. 48276805 c.343G>A p.G115R missense 0.00000846●●●●●●
217. 48264270 c.3545C>A p.P1182H missense 0.00000846●●●●●●
218. 48263177 c.4210A>G p.S1404G missense 0.00000845●●●●●●
219. 48278814 c.61C>T p.H21Y missense 0.00000844●●●●●●
220. 48273011 c.1072C>G p.Q358E missense 0.00000844●●●●●●
221. 48267062 c.2645G>A p.R882Q missense 0.00000842●●●●●●
222. 48276810 c.338C>A p.P113H missense 0.00000842●●●●●●
223. 48276811 c.337C>T p.P113S missense 0.00000841●●●●●●
224. 48266549 c.2917C>T p.P973S missense 0.00000840●●●●●●
225. 48263348 c.4039G>T p.D1347Y missense 0.00000840●●●●●●
226. 48270365 c.1811C>A p.P604H missense 0.00000839●●●●●●
227. 48277144 c.268G>A p.E90K missense 0.00000839●●●●●●
228. 48264895 c.3373T>G p.S1125A missense 0.00000839●●●●●●
229. 48264892 c.3376C>G p.P1126A missense 0.00000838●●●●●●
230. 48270360 c.1816G>A p.A606T missense 0.00000838●●●●●●
231. 48267690 c.2449C>A p.P817T missense 0.00000837●●●●●●
232. 48264259 c.3556C>G p.P1186A missense 0.00000837●●●●●●
233. 48264846 c.3422G>A p.R1141Q missense 0.00000837●●●●●●
234. 48277146 c.266G>A p.G89D missense 0.00000837●●●●●●
235. 48267391 c.2530G>T p.A844S missense 0.00000836●●●●●●
236. 48275140 c.649A>G p.M217V missense 0.00000835●●●●●●
237. 48275550 c.560G>A p.R187H missense 0.00000834●●●●●●
238. 48275143 c.646C>A p.P216T missense 0.00000834●●●●●●
239. 48266624 c.2842A>G p.T948A missense 0.00000834●●●●●●
240. 48275565 c.545G>T p.G182V missense 0.00000834●●●●●●
241. 48267454 c.2467C>A p.P823T missense 0.00000834●●●●●●
242. 48267399 c.2522C>A p.P841H missense 0.00000834●●●●●●
243. 48275526 c.584C>T p.A195V missense 0.00000833●●●●●●
244. 48275527 c.583G>A p.A195T missense 0.00000833●●●●●●
245. 48267940 c.2361C>A p.S787R missense 0.00000833●●●●●●
246. 48267435 c.2486C>T p.P829L missense 0.00000833●●●●●●
247. 48267944 c.2357C>T p.P786L missense 0.00000833●●●●●●
248. 48277158 c.254A>T p.E85V missense 0.00000832●●●●●●
249. 48265296 c.3310G>A p.D1104N missense 0.00000832●●●●●●
250. 48266749 c.2818G>A p.D940N missense 0.00000832●●●●●●
251. 48263345 c.4042G>A p.V1348M missense 0.00000832●●●●●●
252. 48266866 c.2701G>T p.A901S missense 0.00000832●●●●●●
253. 48267905 c.2396C>T p.P799L missense 0.00000832●●●●●●
254. 48266805 c.2762A>T p.E921V missense 0.00000831●●●●●●
255. 48273554 c.964C>T p.R322C missense 0.00000831●●●●●●
256. 48266850 c.2717G>T p.G906V missense 0.00000831●●●●●●
257. 48277161 c.251C>T p.A84V missense 0.00000831●●●●●●
258. 48266793 c.2774C>T p.P925L missense 0.00000831●●●●●●
259. 48273554 c.964C>A p.R322S missense 0.00000831●●●●●●
260. 48272677 c.1215T>G p.I405M missense 0.00000831●●●●●●
261. 48266805 c.2762A>G p.E921G missense 0.00000831●●●●●●
262. 48266788 c.2779C>T p.P927S missense 0.00000831●●●●●●
263. 48263176 c.4211G>A p.S1404N missense 0.00000830●●●●●●
264. 48266269 c.3040C>T p.R1014C missense 0.00000830●●●●●●
265. 48275324 c.628G>A p.E210K missense 0.00000830●●●●●●
266. 48271537 c.1622C>T p.T541I missense 0.00000830●●●●●●
267. 48265968 c.3130C>T p.P1044S missense 0.00000830●●●●●●
268. 48268200 c.2321C>T p.P774L missense 0.00000830●●●●●●
269. 48275330 c.622C>G p.P208A missense 0.00000830●●●●●●
270. 48271538 c.1621A>G p.T541A missense 0.00000830●●●●●●
271. 48265892 c.3206C>T p.T1069I missense 0.00000830●●●●●●
272. 48266815 c.2752C>A p.R918S missense 0.00000830●●●●●●
273. 48265958 c.3140C>T p.A1047V missense 0.00000830●●●●●●
274. 48273546 c.972T>A p.N324K missense 0.00000830●●●●●●
275. 48267720 c.2419C>G p.P807A missense 0.00000830●●●●●●
276. 48266814 c.2753G>A p.R918H missense 0.00000830●●●●●●
277. 48275338 c.614C>T p.P205L missense 0.00000830●●●●●●
278. 48265893 c.3205A>C p.T1069P missense 0.00000830●●●●●●
279. 48266824 c.2743C>T p.P915S missense 0.00000830●●●●●●
280. 48277165 c.247G>A p.G83S missense 0.00000830●●●●●●
281. 48265959 c.3139G>A p.A1047T missense 0.00000830●●●●●●
282. 48265901 c.3197G>A p.R1066H missense 0.00000830●●●●●●
283. 48272975 c.1108C>T p.R370C missense 0.00000829●●●●●●
284. 48275360 c.592C>T p.P198S missense 0.00000829●●●●●●
285. 48272977 c.1106T>A p.V369E missense 0.00000829●●●●●●
286. 48268847 c.2132A>G p.D711G missense 0.00000829●●●●●●
287. 48265997 c.3101G>A p.G1034D missense 0.00000829●●●●●●
288. 48265991 c.3107G>A p.R1036H missense 0.00000829●●●●●●
289. 48271522 c.1637G>T p.S546I missense 0.00000829●●●●●●
290. 48273526 c.992C>A p.A331D missense 0.00000829●●●●●●
291. 48266293 c.3016G>T p.A1006S missense 0.00000829●●●●●●
292. 48275355 c.597A>C p.Q199H missense 0.00000829●●●●●●
293. 48263000 c.4258G>A p.G1420R missense 0.00000828●●●●●●
294. 48277257 c.155T>C p.V52A missense 0.00000828●●●●●●
295. 48263195 c.4192A>T p.I1398F missense 0.00000828●●●●●●
296. 48263159 c.4228G>A p.V1410I missense 0.00000828●●●●●●
297. 48271492 c.1667C>G p.P556R missense 0.00000828●●●●●●
298. 48277259 c.153C>G p.D51E missense 0.00000828●●●●●●
299. 48277258 c.154G>A p.V52M missense 0.00000828●●●●●●
300. 48263205 c.4182C>A p.N1394K missense 0.00000828●●●●●●
301. 48263173 c.4214G>A p.R1405H missense 0.00000828●●●●●●
302. 48263204 c.4183G>A p.E1395K missense 0.00000828●●●●●●
303. 48270181 c.1852G>C p.A618P missense 0.00000828●●●●●●
304. 48263189 c.4198G>C p.A1400P missense 0.00000828●●●●●●
305. 48266314 c.2995C>A p.P999T missense 0.00000828●●●●●●
306. 48268219 c.2302C>G p.P768A missense 0.00000828●●●●●●
307. 48277248 c.164C>A p.P55H missense 0.00000828●●●●●●
308. 48270187 c.1846G>A p.A616T missense 0.00000827●●●●●●
309. 48268838 c.2141C>T p.A714V missense 0.00000827●●●●●●
310. 48271729 c.1595C>G p.A532G missense 0.00000827●●●●●●
311. 48263209 c.4178C>T p.S1393F missense 0.00000827●●●●●●
312. 48270171 c.1862C>G p.P621R missense 0.00000827●●●●●●
313. 48262952 c.4306C>T p.R1436C missense 0.00000827●●●●●●
314. 48271792 c.1532G>A p.R511H missense 0.00000827●●●●●●
315. 48263215 c.4172A>G p.Q1391R missense 0.00000827●●●●●●
316. 48277228 c.184G>A p.V62I missense 0.00000827●●●●●●
317. 48263212 c.4175G>C p.G1392A missense 0.00000827●●●●●●
318. 48277212 c.200A>G p.K67R missense 0.00000827●●●●●●
319. 48262964 c.4294A>G p.T1432A missense 0.00000827●●●●●●
320. 48272959 c.1124C>T p.P375L missense 0.00000827●●●●●●
321. 48266323 c.2986C>A p.P996T missense 0.00000827●●●●●●
322. 48268261 c.2260G>C p.D754H missense 0.00000827●●●●●●
323. 48265310 c.3296C>T p.T1099I missense 0.00000827●●●●●●
324. 48266346 c.2963C>G p.S988C missense 0.00000827●●●●●●
325. 48271804 c.1520C>T p.P507L missense 0.00000827●●●●●●
326. 48268264 c.2257G>A p.A753T missense 0.00000827●●●●●●
327. 48272960 c.1123C>G p.P375A missense 0.00000827●●●●●●
328. 48271710 c.1614G>C p.K538N missense 0.00000827●●●●●●
329. 48271308 c.1763C>A p.A588D missense 0.00000827●●●●●●
330. 48262949 c.4309C>A p.L1437M missense 0.00000827●●●●●●
331. 48262887 c.4371C>G p.D1457E missense 0.00000826●●●●●●
332. 48262919 c.4339G>T p.V1447F missense 0.00000826●●●●●●
333. 48266153 c.3049G>T p.A1017S missense 0.00000826●●●●●●
334. 48271317 c.1754C>T p.P585L missense 0.00000826●●●●●●
335. 48266153 c.3049G>A p.A1017T missense 0.00000826●●●●●●
336. 48271757 c.1567C>T p.P523S missense 0.00000826●●●●●●
337. 48271332 c.1739T>G p.M580R missense 0.00000826●●●●●●
338. 48263273 c.4114A>G p.N1372D missense 0.00000826●●●●●●
339. 48262943 c.4315A>G p.I1439V missense 0.00000826●●●●●●
340. 48271775 c.1549G>A p.A517T missense 0.00000826●●●●●●
341. 48262885 c.4373T>C p.V1458A missense 0.00000826●●●●●●
342. 48262890 c.4368C>G p.F1456L missense 0.00000826●●●●●●
343. 48268245 c.2276A>C p.K759T missense 0.00000826●●●●●●
344. 48263243 c.4144G>T p.G1382C missense 0.00000826●●●●●●
345. 48271354 c.1717G>A p.A573T missense 0.00000825●●●●●●
346. 48271388 c.1683A>C p.Q561H missense 0.00000825●●●●●●
347. 48264064 c.3751A>G p.S1251G missense 0.00000825●●●●●●
348. 48276922 c.328G>A p.V110I missense 0.00000825●●●●●●
349. 48264049 c.3766G>C p.A1256P missense 0.00000825●●●●●●
350. 48268803 c.2176C>A p.L726I missense 0.00000825●●●●●●
351. 48264006 c.3809A>C p.K1270T missense 0.00000825●●●●●●
352. 48276924 c.326G>A p.G109D missense 0.00000825●●●●●●
353. 48264003 c.3812G>A p.S1271N missense 0.00000825●●●●●●
354. 48264049 c.3766G>T p.A1256S missense 0.00000825●●●●●●
355. 48266137 c.3065G>A p.G1022D missense 0.00000825●●●●●●
356. 48276927 c.323C>T p.T108I missense 0.00000825●●●●●●
357. 48274555 c.736C>T p.P246S missense 0.00000825●●●●●●
358. 48271386 c.1685A>G p.D562G missense 0.00000825●●●●●●
359. 48274385 c.790A>T p.M264L missense 0.00000824●●●●●●
360. 48270005 c.1925T>C p.F642S missense 0.00000824●●●●●●
361. 48264061 c.3754C>T p.R1252C missense 0.00000824●●●●●●
362. 48263766 c.3917G>A p.S1306N missense 0.00000824●●●●●●
363. 48263720 c.3963G>C p.K1321N missense 0.00000824●●●●●●
364. 48274420 c.755C>T p.A252V missense 0.00000824●●●●●●
365. 48264165 c.3650G>A p.R1217Q missense 0.00000824●●●●●●
366. 48263818 c.3865G>A p.V1289I missense 0.00000824●●●●●●
367. 48263701 c.3982G>A p.E1328K missense 0.00000824●●●●●●
368. 48274015 c.821A>T p.D274V missense 0.00000824●●●●●●
369. 48270042 c.1888G>A p.E630K missense 0.00000824●●●●●●
370. 48263779 c.3904C>T p.P1302S missense 0.00000824●●●●●●
371. 48264150 c.3665A>G p.N1222S missense 0.00000824●●●●●●
372. 48272796 c.1199A>G p.N400S missense 0.00000824●●●●●●
373. 48264191 c.3624G>T p.K1208N missense 0.00000824●●●●●●
374. 48264174 c.3641G>A p.R1214H missense 0.00000824●●●●●●
375. 48263725 c.3958G>A p.D1320N missense 0.00000824●●●●●●
376. 48263698 c.3985A>T p.S1329C missense 0.00000824●●●●●●
377. 48263769 c.3914C>T p.P1305L missense 0.00000824●●●●●●
378. 48270051 c.1879C>A p.P627T missense 0.00000824●●●●●●
379. 48264067 c.3748G>A p.G1250S missense 0.00000824●●●●●●
380. 48263802 c.3881A>G p.E1294G missense 0.00000824●●●●●●
381. 48274001 c.835G>A p.D279N missense 0.00000824●●●●●●
382. 48273886 c.862G>A p.E288K missense 0.00000824●●●●●●
383. 48264088 c.3727G>A p.E1243K missense 0.00000824●●●●●●
384. 48263716 c.3967C>A p.H1323N missense 0.00000824●●●●●●
385. 48263727 c.3956A>G p.K1319R missense 0.00000824●●●●●●
386. 48263704 c.3979G>C p.G1327R missense 0.00000824●●●●●●
387. 48270051 c.1879C>T p.P627S missense 0.00000824●●●●●●
388. 48264165 c.3650G>C p.R1217P missense 0.00000824●●●●●●
389. 48264114 c.3701C>G p.T1234S missense 0.00000824●●●●●●
390. 48272809 c.1186G>T p.A396S missense 0.00000824●●●●●●
391. 48263808 c.3875A>T p.N1292I missense 0.00000824●●●●●●
392. 48263695 c.3988A>G p.M1330V missense 0.00000824●●●●●●
393. 48274015 c.821A>G p.D274G missense 0.00000824●●●●●●
394. 48263688 c.3995A>G p.D1332G 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.