COL11A1 missense variants in ExAC

COL11A1 gene summary
COL11A1 variants in

The table below lists the COL11A1 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. 103354138 c.4603T>C p.S1535P missense 0.79415508●●●●●●
2. 103379918 c.3968C>T p.P1323L missense 0.59155329●●●●●●
3. 103548497 c.138T>G p.D46E missense 0.06350542●●●●●●
4. 103354135 c.4606C>G p.P1536A missense 0.00851598●●●●●●
5. 103444970 c.2578T>A p.F860I missense 0.00683314●●●●●●
6. 103491163 c.904A>G p.I302V missense 0.00343569●●●●●●
7. 103355059 c.4416C>A p.D1472E missense 0.00294297●●●●●●
8. 103428312 c.2921C>A p.P974Q missense 0.00187272●●●●●●
9. 103548505 c.130G>A p.A44T missense 0.00125506●●●●●●
10. 103548496 c.139T>A p.F47I missense 0.00087436●●●●●●
11. 103544374 c.328G>C p.G110R missense 0.00079028●●●●●●
12. 103354472 c.4468A>G p.I1490V missense 0.00078489●●●●●●
13. 103381192 c.3811G>T p.V1271L missense 0.00075828●●●●●●
14. 103488522 c.1021G>C p.E341Q missense 0.00071378●●●●●●
15. 103377744 c.4057G>A p.A1353T missense 0.00059726●●●●●●
16. 103471838 c.1717A>G p.T573A missense 0.00050678●●●●●●
17. 103573683 c.52A>T p.T18S missense 0.00050292●●●●●●
18. 103345315 c.5198G>A p.R1733H missense 0.00043701●●●●●●
19. 103470038 c.1906G>T p.D636Y missense 0.00038766●●●●●●
20. 103488342 c.1201T>A p.F401I missense 0.00038349●●●●●●
21. 103400635 c.3473T>C p.V1158A missense 0.00035102●●●●●●
22. 103470167 c.1896G>A p.M632I missense 0.00030462●●●●●●
23. 103347290 c.5003C>T p.P1668L missense 0.00029941●●●●●●
24. 103468332 c.2014G>A p.D672N missense 0.00028156●●●●●●
25. 103540265 c.560C>T p.T187M missense 0.00027288●●●●●●
26. 103491824 c.845A>G p.E282G missense 0.00026363●●●●●●
27. 103481285 c.1427G>A p.R476H missense 0.00026282●●●●●●
28. 103354147 c.4594C>G p.P1532A missense 0.00024795●●●●●●
29. 103453270 c.2421A>T p.R807S missense 0.00024790●●●●●●
30. 103352419 c.4802C>A p.T1601N missense 0.00024720●●●●●●
31. 103444283 c.2735C>T p.P912L missense 0.00019858●●●●●●
32. 103548420 c.215C>G p.T72S missense 0.00018126●●●●●●
33. 103364248 c.4222G>A p.G1408S missense 0.00016604●●●●●●
34. 103548489 c.146A>G p.N49S missense 0.00015669●●●●●●
35. 103488405 c.1138G>A p.E380K missense 0.00014921●●●●●●
36. 103412452 c.3229C>A p.P1077T missense 0.00014209●●●●●●
37. 103480146 c.1493G>A p.R498H missense 0.00013319●●●●●●
38. 103345240 c.5273C>T p.A1758V missense 0.00011574●●●●●●
39. 103379919 c.3967C>A p.P1323T missense 0.00010912●●●●●●
40. 103352503 c.4718C>T p.S1573L missense 0.00010713●●●●●●
41. 103364293 c.4177G>A p.G1393S missense 0.00009948●●●●●●
42. 103354445 c.4495C>T p.P1499S missense 0.00009905●●●●●●
43. 103491102 c.965C>T p.P322L missense 0.00009895●●●●●●
44. 103463875 c.2187T>A p.D729E missense 0.00009316●●●●●●
45. 103468326 c.2020C>T p.P674S missense 0.00009079●●●●●●
46. 103491777 c.892A>G p.T298A missense 0.00009060●●●●●●
47. 103363713 c.4270G>C p.A1424P missense 0.00008563●●●●●●
48. 103496754 c.698A>G p.Y233C missense 0.00008297●●●●●●
49. 103364277 c.4193A>C p.Q1398P missense 0.00008294●●●●●●
50. 103548367 c.268T>A p.F90I missense 0.00008253●●●●●●
51. 103491885 c.784G>A p.A262T missense 0.00008245●●●●●●
52. 103488374 c.1169A>G p.E390G missense 0.00007492●●●●●●
53. 103468332 c.2014G>T p.D672Y missense 0.00007453●●●●●●
54. 103491154 c.913G>T p.D305Y missense 0.00007429●●●●●●
55. 103491141 c.926A>T p.Y309F missense 0.00007425●●●●●●
56. 103491882 c.787C>A p.P263T missense 0.00007420●●●●●●
57. 103440432 c.2762A>G p.Q921R missense 0.00006654●●●●●●
58. 103462645 c.2232G>C p.K744N missense 0.00006623●●●●●●
59. 103488480 c.1063T>C p.S355P missense 0.00006615●●●●●●
60. 103345394 c.5119C>T p.R1707W missense 0.00006600●●●●●●
61. 103491121 c.946A>G p.S316G missense 0.00006597●●●●●●
62. 103470210 c.1853G>A p.R618Q missense 0.00006272●●●●●●
63. 103461564 c.2276C>T p.P759L missense 0.00005855●●●●●●
64. 103488504 c.1039G>A p.D347N missense 0.00005799●●●●●●
65. 103544224 c.478G>A p.A160T missense 0.00005792●●●●●●
66. 103491160 c.907G>A p.V303I missense 0.00005780●●●●●●
67. 103345381 c.5132C>T p.T1711I missense 0.00005773●●●●●●
68. 103352512 c.4709T>C p.L1570P missense 0.00005768●●●●●●
69. 103400010 c.3595C>G p.L1199V missense 0.00005768●●●●●●
70. 103352416 c.4805A>G p.N1602S missense 0.00005768●●●●●●
71. 103388932 c.3614C>A p.P1205Q missense 0.00005602●●●●●●
72. 103467984 c.2097G>C p.Q699H missense 0.00005402●●●●●●
73. 103380261 c.3923C>T p.P1308L missense 0.00005375●●●●●●
74. 103377735 c.4066C>T p.P1356S missense 0.00005318●●●●●●
75. 103468328 c.2018G>T p.G673V missense 0.00005279●●●●●●
76. 103427453 c.3137G>A p.G1046E missense 0.00005182●●●●●●
77. 103544341 c.361G>A p.E121K missense 0.00005004●●●●●●
78. 103347280 c.5013G>T p.W1671C missense 0.00004991●●●●●●
79. 103573718 c.17C>T p.S6F missense 0.00004979●●●●●●
80. 103481225 c.1487C>T p.P496L missense 0.00004977●●●●●●
81. 103480117 c.1522A>G p.T508A missense 0.00004959●●●●●●
82. 103343637 c.5359G>A p.D1787N missense 0.00004954●●●●●●
83. 103345369 c.5144A>T p.H1715L missense 0.00004948●●●●●●
84. 103548477 c.158G>A p.G53E missense 0.00004946●●●●●●
85. 103548462 c.173C>T p.T58M missense 0.00004945●●●●●●
86. 103352556 c.4665A>T p.R1555S missense 0.00004944●●●●●●
87. 103548441 c.194A>G p.K65R missense 0.00004943●●●●●●
88. 103352407 c.4814G>A p.R1605Q missense 0.00004943●●●●●●
89. 103412451 c.3230C>T p.P1077L missense 0.00004446●●●●●●
90. 103468328 c.2018G>A p.G673D missense 0.00004399●●●●●●
91. 103463912 c.2150A>G p.Q717R missense 0.00004347●●●●●●
92. 103548522 c.113C>T p.P38L missense 0.00004143●●●●●●
93. 103544265 c.437C>T p.P146L missense 0.00004131●●●●●●
94. 103355052 c.4423C>T p.L1475F missense 0.00004121●●●●●●
95. 103352521 c.4700A>G p.D1567G missense 0.00004120●●●●●●
96. 103400015 c.3590T>C p.I1197T missense 0.00004120●●●●●●
97. 103356035 c.4328A>C p.K1443T missense 0.00003894●●●●●●
98. 103468021 c.2060C>T p.P687L missense 0.00003723●●●●●●
99. 103468007 c.2074C>A p.Q692K missense 0.00003653●●●●●●
100. 103412464 c.3217T>G p.L1073V missense 0.00003601●●●●●●
101. 103444939 c.2609G>A p.R870Q missense 0.00003549●●●●●●
102. 103477974 c.1624C>T p.P542S missense 0.00003419●●●●●●
103. 103440435 c.2759C>G p.P920R missense 0.00003328●●●●●●
104. 103496770 c.682G>A p.D228N missense 0.00003322●●●●●●
105. 103548525 c.110C>T p.A37V missense 0.00003317●●●●●●
106. 103405891 c.3376G>A p.G1126R missense 0.00003317●●●●●●
107. 103364284 c.4186G>A p.G1396S missense 0.00003317●●●●●●
108. 103428313 c.2920C>A p.P974T missense 0.00003315●●●●●●
109. 103444627 c.2644C>T p.R882C missense 0.00003315●●●●●●
110. 103428309 c.2924C>A p.T975N missense 0.00003312●●●●●●
111. 103488491 c.1052A>G p.Q351R missense 0.00003310●●●●●●
112. 103540328 c.497G>A p.R166Q missense 0.00003310●●●●●●
113. 103540214 c.611C>T p.T204M missense 0.00003310●●●●●●
114. 103540314 c.511G>A p.V171M missense 0.00003308●●●●●●
115. 103540265 c.560C>A p.T187K missense 0.00003308●●●●●●
116. 103453238 c.2453G>A p.R818Q missense 0.00003305●●●●●●
117. 103345397 c.5116G>A p.A1706T missense 0.00003300●●●●●●
118. 103343595 c.5401C>G p.P1801A missense 0.00003300●●●●●●
119. 103491888 c.781T>C p.Y261H missense 0.00003299●●●●●●
120. 103468344 c.2002A>G p.M668V missense 0.00003299●●●●●●
121. 103379194 c.4031C>T p.P1344L missense 0.00003297●●●●●●
122. 103400063 c.3542A>C p.Q1181P missense 0.00003295●●●●●●
123. 103481268 c.1444G>A p.A482T missense 0.00003118●●●●●●
124. 103363700 c.4283A>G p.D1428G missense 0.00002754●●●●●●
125. 103412470 c.3211A>G p.I1071V missense 0.00002733●●●●●●
126. 103405980 c.3287G>C p.G1096A missense 0.00002613●●●●●●
127. 103427436 c.3154C>T p.P1052S missense 0.00002568●●●●●●
128. 103380339 c.3845G>C p.G1282A missense 0.00002526●●●●●●
129. 103380318 c.3866C>G p.A1289G missense 0.00002525●●●●●●
130. 103380316 c.3868G>T p.A1290S missense 0.00002525●●●●●●
131. 103544350 c.352A>G p.I118V missense 0.00002517●●●●●●
132. 103461556 c.2284C>T p.R762W missense 0.00002506●●●●●●
133. 103435824 c.2813C>G p.P938R missense 0.00002503●●●●●●
134. 103488363 c.1180A>G p.T394A missense 0.00002499●●●●●●
135. 103471849 c.1706C>T p.P569L missense 0.00002496●●●●●●
136. 103488534 c.1009A>G p.I337V missense 0.00002494●●●●●●
137. 103471837 c.1718C>T p.T573M missense 0.00002493●●●●●●
138. 103488512 c.1031C>T p.T344M missense 0.00002488●●●●●●
139. 103364292 c.4178G>A p.G1393D missense 0.00002487●●●●●●
140. 103444617 c.2654C>T p.T885M missense 0.00002487●●●●●●
141. 103455079 c.2389G>A p.D797N missense 0.00002486●●●●●●
142. 103540197 c.628A>G p.I210V missense 0.00002485●●●●●●
143. 103488500 c.1043A>T p.Y348F missense 0.00002484●●●●●●
144. 103488492 c.1051C>A p.Q351K missense 0.00002483●●●●●●
145. 103540329 c.496C>T p.R166W missense 0.00002483●●●●●●
146. 103540223 c.602A>G p.N201S missense 0.00002482●●●●●●
147. 103405909 c.3358G>A p.G1120S missense 0.00002481●●●●●●
148. 103355103 c.4372A>C p.I1458L missense 0.00002480●●●●●●
149. 103354155 c.4586T>C p.L1529P missense 0.00002479●●●●●●
150. 103491164 c.903C>A p.N301K missense 0.00002478●●●●●●
151. 103468308 c.2038A>C p.N680H missense 0.00002476●●●●●●
152. 103573704 c.31A>G p.K11E missense 0.00002476●●●●●●
153. 103468326 c.2020C>A p.P674T missense 0.00002476●●●●●●
154. 103345419 c.5094C>A p.F1698L missense 0.00002476●●●●●●
155. 103345276 c.5237A>G p.N1746S missense 0.00002475●●●●●●
156. 103573700 c.35G>A p.R12Q missense 0.00002475●●●●●●
157. 103427770 c.3076C>T p.R1026C missense 0.00002473●●●●●●
158. 103348841 c.4885G>T p.G1629C missense 0.00002473●●●●●●
159. 103491882 c.787C>T p.P263S missense 0.00002473●●●●●●
160. 103355057 c.4418G>A p.R1473Q missense 0.00002473●●●●●●
161. 103491846 c.823G>A p.E275K missense 0.00002472●●●●●●
162. 103487309 c.1262C>T p.A421V missense 0.00002472●●●●●●
163. 103491807 c.862C>A p.P288T missense 0.00002471●●●●●●
164. 103544422 c.280A>G p.T94A missense 0.00002088●●●●●●
165. 103427475 c.3115G>A p.G1039S missense 0.00001816●●●●●●
166. 103444987 c.2561C>T p.S854F missense 0.00001808●●●●●●
167. 103470204 c.1859C>T p.P620L missense 0.00001780●●●●●●
168. 103412454 c.3227G>A p.R1076H missense 0.00001780●●●●●●
169. 103364505 c.4132G>T p.G1378C missense 0.00001773●●●●●●
170. 103444940 c.2608C>T p.R870W missense 0.00001769●●●●●●
171. 103363734 c.4249G>A p.G1417R missense 0.00001764●●●●●●
172. 103468821 c.1948C>T p.P650S missense 0.00001742●●●●●●
173. 103468820 c.1949C>G p.P650R missense 0.00001738●●●●●●
174. 103470001 c.1943C>A p.A648D missense 0.00001738●●●●●●
175. 103427454 c.3136G>A p.G1046R missense 0.00001729●●●●●●
176. 103468773 c.1996C>A p.P666T missense 0.00001717●●●●●●
177. 103400660 c.3448G>A p.G1150S missense 0.00001710●●●●●●
178. 103463868 c.2194C>T p.P732S missense 0.00001696●●●●●●
179. 103461576 c.2264C>T p.P755L missense 0.00001674●●●●●●
180. 103461555 c.2285G>A p.R762Q missense 0.00001673●●●●●●
181. 103461555 c.2285G>T p.R762L missense 0.00001673●●●●●●
182. 103488298 c.1245C>A p.S415R missense 0.00001670●●●●●●
183. 103400630 c.3478G>A p.A1160T missense 0.00001670●●●●●●
184. 103488551 c.992C>T p.P331L missense 0.00001668●●●●●●
185. 103488319 c.1224A>C p.E408D missense 0.00001668●●●●●●
186. 103488354 c.1189C>G p.P397A missense 0.00001667●●●●●●
187. 103440426 c.2768C>T p.P923L missense 0.00001661●●●●●●
188. 103364287 c.4183G>A p.V1395I missense 0.00001658●●●●●●
189. 103355112 c.4363C>T p.P1455S missense 0.00001657●●●●●●
190. 103440414 c.2780T>C p.V927A missense 0.00001657●●●●●●
191. 103387076 c.3706G>A p.D1236N missense 0.00001655●●●●●●
192. 103428307 c.2926G>A p.G976S missense 0.00001655●●●●●●
193. 103387075 c.3707A>G p.D1236G missense 0.00001655●●●●●●
194. 103387084 c.3698A>G p.N1233S missense 0.00001655●●●●●●
195. 103488488 c.1055G>A p.R352K missense 0.00001655●●●●●●
196. 103540323 c.502G>A p.A168T missense 0.00001654●●●●●●
197. 103480069 c.1570C>T p.R524W missense 0.00001654●●●●●●
198. 103461460 c.2300C>A p.A767E missense 0.00001654●●●●●●
199. 103484396 c.1328C>T p.P443L missense 0.00001654●●●●●●
200. 103540241 c.584G>T p.R195I missense 0.00001654●●●●●●
201. 103488484 c.1059A>T p.K353N missense 0.00001654●●●●●●
202. 103405929 c.3338C>A p.P1113Q missense 0.00001654●●●●●●
203. 103540313 c.512T>C p.V171A missense 0.00001654●●●●●●
204. 103354147 c.4594C>A p.P1532T missense 0.00001653●●●●●●
205. 103354469 c.4471C>A p.P1491T missense 0.00001652●●●●●●
206. 103488444 c.1099G>A p.G367S missense 0.00001652●●●●●●
207. 103544250 c.452A>G p.Y151C missense 0.00001652●●●●●●
208. 103468307 c.2039A>G p.N680S missense 0.00001651●●●●●●
209. 103345425 c.5088G>T p.M1696I missense 0.00001651●●●●●●
210. 103355087 c.4388C>A p.P1463H missense 0.00001651●●●●●●
211. 103428213 c.3020C>A p.A1007E missense 0.00001651●●●●●●
212. 103345412 c.5101C>T p.L1701F missense 0.00001650●●●●●●
213. 103345282 c.5231A>G p.Y1744C missense 0.00001650●●●●●●
214. 103491144 c.923A>G p.E308G missense 0.00001650●●●●●●
215. 103573696 c.39G>T p.W13C missense 0.00001650●●●●●●
216. 103345393 c.5120G>A p.R1707Q missense 0.00001650●●●●●●
217. 103468347 c.1999G>A p.G667S missense 0.00001649●●●●●●
218. 103483404 c.1385C>G p.T462S missense 0.00001649●●●●●●
219. 103548481 c.154G>C p.E52Q missense 0.00001649●●●●●●
220. 103381224 c.3779C>A p.A1260E missense 0.00001649●●●●●●
221. 103491879 c.790G>C p.E264Q missense 0.00001649●●●●●●
222. 103379243 c.3982C>A p.Q1328K missense 0.00001649●●●●●●
223. 103381201 c.3802G>A p.E1268K missense 0.00001649●●●●●●
224. 103467501 c.2122A>G p.I708V missense 0.00001649●●●●●●
225. 103345316 c.5197C>T p.R1733C missense 0.00001649●●●●●●
226. 103381215 c.3788C>T p.P1263L missense 0.00001649●●●●●●
227. 103385886 c.3743T>C p.V1248A missense 0.00001648●●●●●●
228. 103352540 c.4681A>G p.M1561V missense 0.00001648●●●●●●
229. 103471671 c.1744C>T p.P582S missense 0.00001648●●●●●●
230. 103548409 c.226G>C p.V76L missense 0.00001648●●●●●●
231. 103379197 c.4028A>G p.Q1343R missense 0.00001648●●●●●●
232. 103352528 c.4693G>A p.A1565T missense 0.00001648●●●●●●
233. 103404629 c.3400C>A p.P1134T missense 0.00001648●●●●●●
234. 103352570 c.4651T>A p.S1551T missense 0.00001648●●●●●●
235. 103385880 c.3749G>A p.G1250D missense 0.00001648●●●●●●
236. 103548450 c.185C>G p.T62R missense 0.00001648●●●●●●
237. 103352446 c.4775A>G p.H1592R missense 0.00001648●●●●●●
238. 103352432 c.4789A>G p.M1597V missense 0.00001648●●●●●●
239. 103355036 c.4439G>A p.G1480E missense 0.00001648●●●●●●
240. 103491798 c.871A>G p.T291A missense 0.00001647●●●●●●
241. 103400046 c.3559G>T p.A1187S missense 0.00001647●●●●●●
242. 103363681 c.4302G>A p.M1434I missense 0.00001409●●●●●●
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488. 103468320 c.2026G>A p.G676R missense 0.00000825●●●●●●
489. 103343580 c.5416G>T p.G1806C missense 0.00000825●●●●●●
490. 103491138 c.929A>G p.N310S missense 0.00000825●●●●●●
491. 103428217 c.3016G>C p.G1006R missense 0.00000825●●●●●●
492. 103348853 c.4873G>A p.D1625N missense 0.00000825●●●●●●
493. 103355063 c.4412G>C p.G1471A missense 0.00000825●●●●●●
494. 103471419 c.1820G>T p.G607V missense 0.00000825●●●●●●
495. 103345282 c.5231A>T p.Y1744F missense 0.00000825●●●●●●
496. 103483430 c.1359G>A p.M453I missense 0.00000825●●●●●●
497. 103343595 c.5401C>T p.P1801S missense 0.00000825●●●●●●
498. 103431075 c.2884C>A p.P962T missense 0.00000825●●●●●●
499. 103491094 c.973G>T p.V325F missense 0.00000825●●●●●●
500. 103491079 c.988G>C p.E330Q missense 0.00000825●●●●●●
501. 103345403 c.5110G>A p.A1704T missense 0.00000825●●●●●●
502. 103468325 c.2021C>A p.P674H missense 0.00000825●●●●●●
503. 103548373 c.262C>G p.Q88E missense 0.00000825●●●●●●
504. 103400097 c.3508C>T p.P1170S missense 0.00000824●●●●●●
505. 103352489 c.4732G>C p.E1578Q missense 0.00000824●●●●●●
506. 103352419 c.4802C>T p.T1601I missense 0.00000824●●●●●●
507. 103428243 c.2990G>A p.G997D missense 0.00000824●●●●●●
508. 103385899 c.3730T>A p.S1244T missense 0.00000824●●●●●●
509. 103573680 c.55G>A p.V19I missense 0.00000824●●●●●●
510. 103381194 c.3809G>A p.G1270D missense 0.00000824●●●●●●
511. 103548429 c.206G>T p.G69V missense 0.00000824●●●●●●
512. 103444462 c.2663G>A p.R888Q missense 0.00000824●●●●●●
513. 103400077 c.3528G>C p.Q1176H missense 0.00000824●●●●●●
514. 103352549 c.4672A>G p.T1558A missense 0.00000824●●●●●●
515. 103352479 c.4742G>C p.G1581A missense 0.00000824●●●●●●
516. 103427764 c.3082T>C p.F1028L missense 0.00000824●●●●●●
517. 103348798 c.4928C>G p.S1643C missense 0.00000824●●●●●●
518. 103471659 c.1756G>A p.G586R missense 0.00000824●●●●●●
519. 103355039 c.4436A>G p.Q1479R missense 0.00000824●●●●●●
520. 103487270 c.1301T>A p.V434D missense 0.00000824●●●●●●
521. 103548382 c.253C>A p.P85T missense 0.00000824●●●●●●
522. 103487280 c.1291C>T p.P431S missense 0.00000824●●●●●●
523. 103352597 c.4624G>A p.V1542I missense 0.00000824●●●●●●
524. 103400109 c.3496G>T p.G1166C missense 0.00000824●●●●●●
525. 103352525 c.4696G>T p.D1566Y missense 0.00000824●●●●●●
526. 103352434 c.4787C>T p.P1596L missense 0.00000824●●●●●●
527. 103352416 c.4805A>C p.N1602T missense 0.00000824●●●●●●
528. 103428244 c.2989G>A p.G997S missense 0.00000824●●●●●●
529. 103471629 c.1786G>A p.A596T missense 0.00000824●●●●●●
530. 103385914 c.3715C>A p.Q1239K missense 0.00000824●●●●●●
531. 103573683 c.52A>G p.T18A missense 0.00000824●●●●●●
532. 103548463 c.172A>G p.T58A missense 0.00000824●●●●●●
533. 103548447 c.188A>G p.N63S missense 0.00000824●●●●●●
534. 103352560 c.4661C>A p.T1554K missense 0.00000824●●●●●●
535. 103491819 c.850G>T p.V284L missense 0.00000824●●●●●●
536. 103404628 c.3401C>T p.P1134L missense 0.00000824●●●●●●
537. 103467498 c.2125G>T p.G709C missense 0.00000824●●●●●●
538. 103400086 c.3519A>T p.R1173S missense 0.00000824●●●●●●
539. 103352480 c.4741G>T p.G1581C missense 0.00000824●●●●●●
540. 103385890 c.3739T>C p.S1247P missense 0.00000824●●●●●●
541. 103573673 c.62C>T p.T21I missense 0.00000824●●●●●●
542. 103487270 c.1301T>C p.V434A missense 0.00000824●●●●●●
543. 103491776 c.893C>T p.T298M missense 0.00000824●●●●●●
544. 103483422 c.1367C>T p.P456L missense 0.00000824●●●●●●
545. 103352515 c.4706T>C p.I1569T missense 0.00000824●●●●●●
546. 103352444 c.4777A>T p.M1593L missense 0.00000824●●●●●●
547. 103352425 c.4796C>T p.T1599I missense 0.00000824●●●●●●
548. 103491836 c.833A>T p.Y278F missense 0.00000824●●●●●●
549. 103483379 c.1410T>A p.D470E missense 0.00000824●●●●●●
550. 103471635 c.1780C>G p.P594A missense 0.00000824●●●●●●
551. 103427794 c.3052G>C p.G1018R missense 0.00000824●●●●●●
552. 103381209 c.3794C>T p.P1265L missense 0.00000824●●●●●●
553. 103355024 c.4451C>G p.A1484G missense 0.00000824●●●●●●
554. 103548465 c.170C>G p.T57R missense 0.00000824●●●●●●
555. 103379236 c.3989G>A p.G1330D missense 0.00000824●●●●●●
556. 103352609 c.4612C>G p.P1538A missense 0.00000824●●●●●●
557. 103491848 c.821G>C p.G274A missense 0.00000824●●●●●●
558. 103491821 c.848G>A p.S283N missense 0.00000824●●●●●●
559. 103352483 c.4738T>C p.F1580L missense 0.00000824●●●●●●
560. 103400088 c.3517A>G p.R1173G missense 0.00000824●●●●●●
561. 103471673 c.1742G>A p.R581H missense 0.00000824●●●●●●
562. 103348777 c.4949A>T p.Y1650F missense 0.00000824●●●●●●
563. 103385899 c.3730T>C p.S1244P missense 0.00000824●●●●●●
564. 103548423 c.212A>T p.D71V missense 0.00000824●●●●●●
565. 103487310 c.1261G>A p.A421T missense 0.00000824●●●●●●
566. 103487279 c.1292C>A p.P431Q missense 0.00000824●●●●●●
567. 103483381 c.1408G>C p.D470H missense 0.00000824●●●●●●
568. 103444448 c.2677G>T p.A893S missense 0.00000824●●●●●●
569. 103352539 c.4682T>C p.M1561T missense 0.00000824●●●●●●
570. 103352529 c.4692T>G p.D1564E missense 0.00000824●●●●●●
571. 103400005 c.3600G>C p.Q1200H missense 0.00000824●●●●●●
572. 103491866 c.803A>T p.E268V missense 0.00000824●●●●●●
573. 103427757 c.3089G>C p.G1030A missense 0.00000824●●●●●●
574. 103348781 c.4945A>G p.I1649V missense 0.00000824●●●●●●
575. 103487285 c.1286G>T p.G429V missense 0.00000824●●●●●●
576. 103471656 c.1759G>C p.G587R missense 0.00000824●●●●●●
577. 103427806 c.3040C>G p.Q1014E missense 0.00000824●●●●●●
578. 103379237 c.3988G>T p.G1330C missense 0.00000824●●●●●●
579. 103385907 c.3722C>T p.P1241L missense 0.00000824●●●●●●
580. 103548466 c.169A>G p.T57A missense 0.00000824●●●●●●
581. 103404632 c.3397G>C p.E1133Q missense 0.00000824●●●●●●
582. 103352609 c.4612C>T p.P1538S missense 0.00000824●●●●●●
583. 103491851 c.818A>G p.Y273C missense 0.00000824●●●●●●
584. 103352578 c.4643T>C p.I1548T missense 0.00000824●●●●●●
585. 103491829 c.840G>T p.E280D 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.