LDLR variants in ExAC

LDLR gene summary
LDLR variants in

The table below lists the LDLR 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. 11221454 c.1060+7T>C splice site 0.99992577●●●●●●
2. 11221457 c.1060+10G>C splice site 0.38489054●●●●●●
3. 11222300 c.1171G>A p.A391T missense 0.04669945●●●●●●
4. 11231203 c.2140+5G>A splice site 0.00694421●●●●●●
5. 11222182 c.1061-8T>C splice site 0.00642020●●●●●●
6. 11233886 c.2177C>T p.T726I missense 0.00626084●●●●●●
7. 11227525 c.1706-10G>A splice site 0.00252875●●●●●●
8. 11221324 c.941-4G>A splice site 0.00238222●●●●●●
9. 11218199 c.940+9C>T splice site 0.00224611●●●●●●
10. 11221357 c.970G>A p.G324S missense 0.00116295●●●●●●
11. 11200282 c.58G>A p.G20R missense 0.00104594●●●●●●
12. 11233940 c.2231G>A p.R744Q missense 0.00081649●●●●●●
13. 11240278 c.2479G>A p.V827I missense 0.00075799●●●●●●
14. 11221411 c.1024G>A p.D342N missense 0.00065417●●●●●●
15. 11210979 c.148G>T p.A50S missense 0.00065290●●●●●●
16. 11218079 c.829G>A p.E277K missense 0.00050259●●●●●●
17. 11230798 c.1876G>A p.E626K missense 0.00048596●●●●●●
18. 11233998 c.2289G>T p.E763D missense 0.00029153●●●●●●
19. 11210913 c.82G>A p.E28K missense 0.00028913●●●●●●
20. 11217372 c.817+9T>C splice site 0.00028838●●●●●●
21. 11240240 c.2441G>A p.R814Q missense 0.00028013●●●●●●
22. 11230789 c.1867A>G p.I623V missense 0.00026357●●●●●●
23. 11238769 c.2389+8C>T splice site 0.00019799●●●●●●
24. 11217352 c.806G>A p.G269D missense 0.00018948●●●●●●
25. 11215926 c.344G>A p.R115H missense 0.00018380●●●●●●
26. 11217303 c.757C>T p.R253W missense 0.00018122●●●●●●
27. 11221396 c.1009G>A p.E337K missense 0.00014916●●●●●●
28. 11211016 c.185C>T p.T62M missense 0.00013273●●●●●●
29. 11231164 c.2106G>A p.M702I missense 0.00012421●●●●●●
30. 11231159 c.2101G>A p.G701S missense 0.00012417●●●●●●
31. 11233951 c.2242G>A p.D748N missense 0.00011554●●●●●●
32. 11222207 c.1078G>C p.D360H missense 0.00009951●●●●●●
33. 11222214 c.1085A>C p.D362A missense 0.00009942●●●●●●
34. 11233961 c.2252G>A p.R751Q missense 0.00009912●●●●●●
35. 11210979 c.148G>A p.A50T missense 0.00009091●●●●●●
36. 11227576 c.1747C>T p.H583Y missense 0.00009061●●●●●●
37. 11216244 c.662A>G p.D221G missense 0.00008407●●●●●●
38. 11224236 c.1384G>A p.V462I missense 0.00008271●●●●●●
39. 11224266 c.1414G>T p.D472Y missense 0.00008247●●●●●●
40. 11240197 c.2398G>A p.V800I missense 0.00008246●●●●●●
41. 11224368 c.1516G>A p.V506M missense 0.00008244●●●●●●
42. 11221444 c.1057G>A p.E353K missense 0.00007442●●●●●●
43. 11224254 c.1402G>A p.V468I missense 0.00007439●●●●●●
44. 11224398 c.1546G>A p.G516S missense 0.00007427●●●●●●
45. 11217315 c.769C>T p.R257W missense 0.00007414●●●●●●
46. 11217256 c.710G>A p.R237H missense 0.00007414●●●●●●
47. 11227645 c.1816G>T p.A606S missense 0.00007413●●●●●●
48. 11216285 c.694+9G>A splice site 0.00007243●●●●●●
49. 11221366 c.979C>T p.H327Y missense 0.00006637●●●●●●
50. 11231112 c.2054C>T p.P685L missense 0.00006605●●●●●●
51. 11238747 c.2375T>C p.I792T missense 0.00006595●●●●●●
52. 11213462 c.313C>T p.P105S missense 0.00006590●●●●●●
53. 11230870 c.1948G>A p.E650K missense 0.00006590●●●●●●
54. 11241988 c.2579C>T p.A860V missense 0.00006589●●●●●●
55. 11224432 c.1580T>C p.V527A missense 0.00005843●●●●●●
56. 11221336 c.949G>A p.E317K missense 0.00005806●●●●●●
57. 11240345 c.2546C>T p.S849L missense 0.00005775●●●●●●
58. 11238692 c.2320G>A p.D774N missense 0.00005768●●●●●●
59. 11227594 c.1765G>A p.D589N missense 0.00005766●●●●●●
60. 11213441 c.292G>A p.G98S missense 0.00005766●●●●●●
61. 11213382 c.233G>A p.R78H missense 0.00005765●●●●●●
62. 11221390 c.1003G>A p.G335S missense 0.00004973●●●●●●
63. 11222226 c.1097A>G p.Q366R missense 0.00004966●●●●●●
64. 11216124 c.542C>G p.P181R missense 0.00004955●●●●●●
65. 11226829 c.1646G>A p.G549D missense 0.00004944●●●●●●
66. 11231039 c.1988-7G>A splice site 0.00004944●●●●●●
67. 11213417 c.268G>A p.D90N missense 0.00004942●●●●●●
68. 11227613 c.1784G>A p.R595Q missense 0.00004942●●●●●●
69. 11227645 c.1816G>A p.A606T missense 0.00004942●●●●●●
70. 11227604 c.1775G>A p.G592E missense 0.00004942●●●●●●
71. 11223944 c.1187-10G>A splice site 0.00004197●●●●●●
72. 11216233 c.651_653delTGG p.Gly219del inframe 0.00004179●●●●●●
73. 11233888 c.2179G>A p.V727I missense 0.00004129●●●●●●
74. 11218190 c.940G>A p.G314R missense 0.00004127●●●●●●
75. 11224296 c.1444G>A p.D482N missense 0.00004125●●●●●●
76. 11224362 c.1510A>G p.K504E missense 0.00004122●●●●●●
77. 11240210 c.2411_2412insG p.Val806GlyfsTer11 frameshift 0.00004121●●●●●●
78. 11218157 c.907C>T p.R303W missense 0.00004121●●●●●●
79. 11238684 c.2312C>T p.A771V missense 0.00004120●●●●●●
80. 11231041 c.1988-5C>G splice site 0.00004120●●●●●●
81. 11231042 c.1988-4C>T splice site 0.00004120●●●●●●
82. 11213463 c.313+1G>A essential splice site 0.00004118●●●●●●
83. 11213408 c.259T>G p.W87G missense 0.00004118●●●●●●
84. 11224443 c.1586+5G>A splice site 0.00003401●●●●●●
85. 11223947 c.1187-7C>A splice site 0.00003354●●●●●●
86. 11215925 c.343C>T p.R115C missense 0.00003343●●●●●●
87. 11222291 c.1162C>A p.H388N missense 0.00003327●●●●●●
88. 11233991 c.2282C>T p.T761M missense 0.00003322●●●●●●
89. 11221334 c.947A>G p.N316S missense 0.00003318●●●●●●
90. 11216190 c.608A>G p.H203R missense 0.00003316●●●●●●
91. 11231156 c.2098G>A p.D700N missense 0.00003310●●●●●●
92. 11231130 c.2072C>T p.S691L missense 0.00003304●●●●●●
93. 11221456 c.1060+9C>T splice site 0.00003303●●●●●●
94. 11218112 c.862G>A p.E288K missense 0.00003296●●●●●●
95. 11217316 c.770G>A p.R257Q missense 0.00003295●●●●●●
96. 11227562 c.1733T>C p.V578A missense 0.00003295●●●●●●
97. 11234010 c.2301G>A p.M767I missense 0.00002535●●●●●●
98. 11224437 c.1585G>C p.G529R missense 0.00002519●●●●●●
99. 11223954 c.1187G>C p.G396A missense 0.00002513●●●●●●
100. 11215919 c.337G>A p.E113K missense 0.00002511●●●●●●
101. 11223988 c.1221C>A p.H407Q missense 0.00002495●●●●●●
102. 11224013 c.1246C>T p.R416W missense 0.00002487●●●●●●
103. 11221375 c.988A>C p.N330H missense 0.00002487●●●●●●
104. 11215977 c.395G>A p.R132Q missense 0.00002485●●●●●●
105. 11224131 c.1358+6C>T splice site 0.00002483●●●●●●
106. 11221414 c.1027G>A p.G343S missense 0.00002483●●●●●●
107. 11216011 c.429C>A p.C143X nonsense 0.00002481●●●●●●
108. 11224061 c.1294C>G p.L432V missense 0.00002481●●●●●●
109. 11216147 c.565G>C p.V189L missense 0.00002479●●●●●●
110. 11216102 c.520G>A p.E174K missense 0.00002477●●●●●●
111. 11233904 c.2195G>C p.S732T missense 0.00002476●●●●●●
112. 11224272 c.1420C>G p.Q474E missense 0.00002475●●●●●●
113. 11233915 c.2206G>A p.V736I missense 0.00002475●●●●●●
114. 11238760 c.2388C>T splice site 0.00002474●●●●●●
115. 11240322 c.2523C>G p.N841K missense 0.00002473●●●●●●
116. 11238746 c.2374A>G p.I792V missense 0.00002473●●●●●●
117. 11226796 c.1613C>T p.T538I missense 0.00002473●●●●●●
118. 11218108 c.858C>A p.S286R missense 0.00002472●●●●●●
119. 11238696 c.2324T>C p.V775A missense 0.00002472●●●●●●
120. 11217357 c.811G>A p.V271I missense 0.00002472●●●●●●
121. 11218142 c.892A>G p.M298V missense 0.00002472●●●●●●
122. 11238695 c.2323G>A p.V775I missense 0.00002472●●●●●●
123. 11230834 c.1912G>A p.D638N missense 0.00002471●●●●●●
124. 11217328 c.782G>T p.C261F missense 0.00002471●●●●●●
125. 11213381 c.232C>T p.R78C missense 0.00002471●●●●●●
126. 11213382 c.233G>T p.R78L missense 0.00002471●●●●●●
127. 11213435 c.286G>A p.D96N missense 0.00002471●●●●●●
128. 11230790 c.1868T>C p.I623T missense 0.00002471●●●●●●
129. 11227603 c.1774G>A p.G592R missense 0.00002471●●●●●●
130. 11227549 c.1720C>T p.R574C missense 0.00002471●●●●●●
131. 11200266 c.42G>C p.L14F missense 0.00001851●●●●●●
132. 11216284 c.694+8C>T splice site 0.00001809●●●●●●
133. 11200228 c.4G>C p.G2R missense 0.00001731●●●●●●
134. 11216264 c.682G>T p.E228X nonsense 0.00001709●●●●●●
135. 11215896 c.314C>T p.P105L missense 0.00001684●●●●●●
136. 11216238 c.656G>A p.G219D missense 0.00001677●●●●●●
137. 11223968 c.1201C>G p.L401V missense 0.00001669●●●●●●
138. 11216225 c.643C>T p.R215C missense 0.00001668●●●●●●
139. 11216226 c.644G>A p.R215H missense 0.00001668●●●●●●
140. 11234000 c.2291T>C p.I764T missense 0.00001668●●●●●●
141. 11215934 c.352G>T p.D118Y missense 0.00001667●●●●●●
142. 11216221 c.639C>A p.S213R missense 0.00001666●●●●●●
143. 11222295 c.1166C>T p.T389M missense 0.00001665●●●●●●
144. 11223983 c.1216C>T p.R406W missense 0.00001665●●●●●●
145. 11211025 c.190+4A>T splice site 0.00001664●●●●●●
146. 11223984 c.1217G>A p.R406Q missense 0.00001664●●●●●●
147. 11224428 c.1576C>T p.P526S missense 0.00001663●●●●●●
148. 11222289 c.1160C>T p.P387L missense 0.00001663●●●●●●
149. 11231184 c.2126G>A p.R709K missense 0.00001662●●●●●●
150. 11222195 c.1066G>A p.D356N missense 0.00001662●●●●●●
151. 11231181 c.2123T>C p.M708T missense 0.00001661●●●●●●
152. 11211021 c.190T>C splice site 0.00001661●●●●●●
153. 11221323 c.941-5C>T splice site 0.00001660●●●●●●
154. 11231084 c.2026G>A p.G676S missense 0.00001660●●●●●●
155. 11224005 c.1238C>T p.T413M missense 0.00001659●●●●●●
156. 11224014 c.1247G>A p.R416Q missense 0.00001658●●●●●●
157. 11222214 c.1085A>T p.D362V missense 0.00001657●●●●●●
158. 11233982 c.2273G>C p.G758A missense 0.00001657●●●●●●
159. 11224419 c.1567G>A p.V523M missense 0.00001657●●●●●●
160. 11215974 c.392A>G p.D131G missense 0.00001657●●●●●●
161. 11222262 c.1133A>C p.Q378P missense 0.00001656●●●●●●
162. 11216175 c.593C>G p.S198W missense 0.00001656●●●●●●
163. 11224132 c.1358+7G>A splice site 0.00001656●●●●●●
164. 11222234 c.1105G>A p.V369M missense 0.00001655●●●●●●
165. 11231154 c.2096C>T p.P699L missense 0.00001655●●●●●●
166. 11215995 c.413C>G p.S138X nonsense 0.00001655●●●●●●
167. 11224233 c.1381G>A p.G461S missense 0.00001655●●●●●●
168. 11216000 c.418G>T p.E140X nonsense 0.00001655●●●●●●
169. 11224245 c.1393T>A p.Y465N missense 0.00001654●●●●●●
170. 11224077 c.1310C>T p.A437V missense 0.00001654●●●●●●
171. 11224102 c.1335C>A p.D445E missense 0.00001654●●●●●●
172. 11210904 c.73G>A p.D25N missense 0.00001653●●●●●●
173. 11226896 c.1705+8C>T splice site 0.00001653●●●●●●
174. 11216084 c.502G>A p.D168N missense 0.00001652●●●●●●
175. 11210912 c.81C>G p.C27W missense 0.00001652●●●●●●
176. 11216130 c.548G>A p.R183H missense 0.00001652●●●●●●
177. 11210970 c.139G>A p.D47N missense 0.00001652●●●●●●
178. 11224284 c.1432G>A p.G478R missense 0.00001651●●●●●●
179. 11218194 c.940+4A>C splice site 0.00001651●●●●●●
180. 11218196 c.940+6T>C splice site 0.00001651●●●●●●
181. 11210928 c.97C>T p.Q33X nonsense 0.00001651●●●●●●
182. 11231108 c.2050G>A p.A684T missense 0.00001651●●●●●●
183. 11218190 c.940G>T p.G314W missense 0.00001651●●●●●●
184. 11240194 c.2395C>T p.L799F missense 0.00001649●●●●●●
185. 11238752 c.2380C>T p.L794F missense 0.00001649●●●●●●
186. 11224348 c.1496C>G p.S499C missense 0.00001649●●●●●●
187. 11226874 c.1691A>G p.N564S missense 0.00001649●●●●●●
188. 11224381 c.1529C>T p.T510M missense 0.00001649●●●●●●
189. 11224326 c.1474G>A p.D492N missense 0.00001649●●●●●●
190. 11217264 c.718G>A p.E240K missense 0.00001648●●●●●●
191. 11238719 c.2347A>C p.K783Q missense 0.00001648●●●●●●
192. 11217306 c.760C>G p.Q254E missense 0.00001648●●●●●●
193. 11240215 c.2416G>T p.V806F missense 0.00001648●●●●●●
194. 11226817 c.1634G>A p.G545E missense 0.00001648●●●●●●
195. 11227666 c.1837G>A p.V613I missense 0.00001648●●●●●●
196. 11240239 c.2440C>T p.R814W missense 0.00001648●●●●●●
197. 11218103 c.853C>T p.H285Y missense 0.00001648●●●●●●
198. 11240274 c.2475C>G p.N825K missense 0.00001648●●●●●●
199. 11218148 c.898A>G p.R300G missense 0.00001648●●●●●●
200. 11217344 c.798T>A p.D266E missense 0.00001648●●●●●●
201. 11227681 c.1845+7C>G splice site 0.00001648●●●●●●
202. 11240309 c.2510A>G p.H837R missense 0.00001648●●●●●●
203. 11230888 c.1966C>A p.H656N missense 0.00001648●●●●●●
204. 11226801 c.1618G>A p.A540T missense 0.00001648●●●●●●
205. 11213375 c.226G>C p.G76R missense 0.00001647●●●●●●
206. 11213360 c.211G>A p.G71R missense 0.00001647●●●●●●
207. 11227600 c.1771A>G p.N591D missense 0.00001647●●●●●●
208. 11230820 c.1898G>A p.R633H missense 0.00001647●●●●●●
209. 11241945 c.2548-12A>G splice site 0.00001647●●●●●●
210. 11241984 c.2575G>A p.V859M missense 0.00001647●●●●●●
211. 11241965 c.2556G>A p.M852I missense 0.00001647●●●●●●
212. 11227606 c.1777G>T p.G593C missense 0.00001647●●●●●●
213. 11227582 c.1753A>G p.I585V missense 0.00001647●●●●●●
214. 11200296 c.67+5G>T splice site 0.00001072●●●●●●
215. 11200289 c.65C>T p.A22V missense 0.00001026●●●●●●
216. 11234028 c.2311+8C>T splice site 0.00000895●●●●●●
217. 11200256 c.32C>T p.T11I missense 0.00000893●●●●●●
218. 11216279 c.694+3A>G splice site 0.00000890●●●●●●
219. 11216276 c.694G>A p.A232T missense 0.00000887●●●●●●
220. 11234026 c.2311+6G>T splice site 0.00000884●●●●●●
221. 11216273 c.691T>G p.C231G missense 0.00000872●●●●●●
222. 11200238 c.14_15insCTTTC p.Trp6PhefsTer202 frameshift 0.00000871●●●●●●
223. 11234019 c.2310A>C p.Q770H missense 0.00000864●●●●●●
224. 11234017 c.2308C>T p.Q770X nonsense 0.00000859●●●●●●
225. 11216264 c.682G>C p.E228Q missense 0.00000855●●●●●●
226. 11234014 c.2305C>T p.H769Y missense 0.00000851●●●●●●
227. 11222323 c.1186+8C>T splice site 0.00000847●●●●●●
228. 11224439 c.1586+1G>A essential splice site 0.00000843●●●●●●
229. 11215891 c.314-5T>C splice site 0.00000843●●●●●●
230. 11216247 c.665G>A p.C222Y missense 0.00000842●●●●●●
231. 11216248 c.666C>A p.C222X nonsense 0.00000842●●●●●●
232. 11216246 c.664T>C p.C222R missense 0.00000841●●●●●●
233. 11222317 c.1186+2T>G essential splice site 0.00000840●●●●●●
234. 11215905 c.323C>T p.T108M missense 0.00000840●●●●●●
235. 11215908 c.326G>A p.C109Y missense 0.00000840●●●●●●
236. 11215914 c.332A>G p.Q111R missense 0.00000838●●●●●●
237. 11223949 c.1187-5C>A splice site 0.00000838●●●●●●
238. 11223955 c.1188C>T splice site 0.00000838●●●●●●
239. 11215918 c.336_337insG p.Glu113GlyfsTer17 frameshift 0.00000837●●●●●●
240. 11231081 c.2023G>A p.G675S missense 0.00000837●●●●●●
241. 11222310 c.1181C>T p.A394V missense 0.00000836●●●●●●
242. 11223962 c.1195G>A p.A399T missense 0.00000836●●●●●●
243. 11224431 c.1579G>A p.V527I missense 0.00000835●●●●●●
244. 11222305 c.1176C>A p.C392X nonsense 0.00000835●●●●●●
245. 11222190 c.1061A>G p.D354G missense 0.00000833●●●●●●
246. 11211025 c.190+4A>G splice site 0.00000832●●●●●●
247. 11216213 c.631C>T p.H211Y missense 0.00000832●●●●●●
248. 11231181 c.2123T>G p.M708R missense 0.00000831●●●●●●
249. 11223989 c.1222G>A p.E408K missense 0.00000831●●●●●●
250. 11231182 c.2124G>A p.M708I missense 0.00000831●●●●●●
251. 11224427 c.1575T>A p.D525E missense 0.00000831●●●●●●
252. 11221354 c.967G>A p.G323S missense 0.00000830●●●●●●
253. 11221321 c.941-7T>C splice site 0.00000830●●●●●●
254. 11231174 c.2116A>G p.R706G missense 0.00000830●●●●●●
255. 11221353 c.966C>A p.N322K missense 0.00000830●●●●●●
256. 11216202 c.620G>A p.G207D missense 0.00000830●●●●●●
257. 11221324 c.941-4G>C splice site 0.00000830●●●●●●
258. 11222199 c.1070A>G p.E357G missense 0.00000830●●●●●●
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261. 11215975 c.393C>A p.D131E missense 0.00000829●●●●●●
262. 11222273 c.1144G>C p.G382R missense 0.00000829●●●●●●
263. 11215976 c.394C>T p.R132W missense 0.00000829●●●●●●
264. 11233982 c.2273G>T p.G758V missense 0.00000829●●●●●●
265. 11221369 c.982G>A p.V328I missense 0.00000829●●●●●●
266. 11224422 c.1570G>A p.V524M missense 0.00000829●●●●●●
267. 11222274 c.1145G>C p.G382A missense 0.00000829●●●●●●
268. 11224008 c.1241T>G p.L414R missense 0.00000829●●●●●●
269. 11233841 c.2141-9_2141-7delTTC splice site 0.00000829●●●●●●
270. 11233985 c.2276T>C p.L759P missense 0.00000829●●●●●●
271. 11222209 c.1080T>G p.D360E missense 0.00000829●●●●●●
272. 11221390 c.1003G>C p.G335R missense 0.00000829●●●●●●
273. 11216175 c.593C>T p.S198L missense 0.00000828●●●●●●
274. 11224126 c.1358+1G>A essential splice site 0.00000828●●●●●●
275. 11215991 c.409G>A p.G137S missense 0.00000828●●●●●●
276. 11224416 c.1564A>G p.I522V missense 0.00000828●●●●●●
277. 11224208 c.1359-3C>T splice site 0.00000828●●●●●●
278. 11222258 c.1129T>C p.C377R missense 0.00000828●●●●●●
279. 11221407 c.1020C>G p.C340W missense 0.00000828●●●●●●
280. 11224218 c.1366C>T p.L456F missense 0.00000828●●●●●●
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284. 11224205 c.1359-6C>T splice site 0.00000828●●●●●●
285. 11221406 c.1019G>T p.C340F missense 0.00000828●●●●●●
286. 11211007 c.176C>T p.S59F missense 0.00000828●●●●●●
287. 11224026 c.1259C>A p.T420N missense 0.00000828●●●●●●
288. 11224024 c.1257C>G p.Y419X nonsense 0.00000828●●●●●●
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291. 11216172 c.590G>T p.C197F missense 0.00000828●●●●●●
292. 11216184 c.602A>G p.E201G missense 0.00000828●●●●●●
293. 11224030 c.1263C>A p.S421R missense 0.00000828●●●●●●
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295. 11215992 c.410G>T p.G137V missense 0.00000828●●●●●●
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299. 11224052 c.1285G>A p.V429M missense 0.00000827●●●●●●
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303. 11224094 c.1327T>C p.W443R missense 0.00000827●●●●●●
304. 11224066 c.1299C>G p.D433E missense 0.00000827●●●●●●
305. 11210984 c.153G>C p.E51D missense 0.00000827●●●●●●
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308. 11221435 c.1048C>T p.R350X nonsense 0.00000827●●●●●●
309. 11216016 c.434T>C p.V145A missense 0.00000827●●●●●●
310. 11216006 c.424T>A p.S142T missense 0.00000827●●●●●●
311. 11216171 c.589T>C p.C197R missense 0.00000827●●●●●●
312. 11224251 c.1399A>T p.T467S missense 0.00000827●●●●●●
313. 11224068 c.1301C>T p.T434M missense 0.00000827●●●●●●
314. 11221442 c.1055G>A p.C352Y missense 0.00000827●●●●●●
315. 11224233 c.1381G>T p.G461C missense 0.00000827●●●●●●
316. 11224103 c.1336C>G p.L446V missense 0.00000827●●●●●●
317. 11233862 c.2153C>T p.A718V missense 0.00000827●●●●●●
318. 11222232 c.1103G>A p.C368Y missense 0.00000827●●●●●●
319. 11224252 c.1400C>A p.T467N missense 0.00000827●●●●●●
320. 11224074 c.1307T>C p.V436A missense 0.00000827●●●●●●
321. 11216102 c.520G>T p.E174X nonsense 0.00000826●●●●●●
322. 11231087 c.2029T>C p.C677R missense 0.00000826●●●●●●
323. 11216127 c.545A>G p.Q182R missense 0.00000826●●●●●●
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326. 11231123 c.2065C>T p.P689S missense 0.00000826●●●●●●
327. 11216090 c.508G>A p.D170N missense 0.00000826●●●●●●
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333. 11210949 c.118A>G p.I40V missense 0.00000826●●●●●●
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336. 11216091 c.509A>G p.D170G missense 0.00000826●●●●●●
337. 11224281 c.1429G>A p.D477N missense 0.00000826●●●●●●
338. 11218197 c.940+7C>A splice site 0.00000826●●●●●●
339. 11231118 c.2060_2061insC p.N688Qfs*32 frameshift 0.00000826●●●●●●
340. 11216112 c.530C>T p.S177L missense 0.00000826●●●●●●
341. 11216144 c.562T>G p.Y188D missense 0.00000826●●●●●●
342. 11218189 c.939C>G p.C313W missense 0.00000826●●●●●●
343. 11231106 c.2048C>T p.P683L missense 0.00000826●●●●●●
344. 11210974 c.143G>A p.G48D missense 0.00000826●●●●●●
345. 11216047 c.465C>A p.C155X nonsense 0.00000826●●●●●●
346. 11238765 c.2389+4A>G splice site 0.00000825●●●●●●
347. 11240186 c.2390-3C>T splice site 0.00000825●●●●●●
348. 11240337 c.2538C>G p.S846R missense 0.00000825●●●●●●
349. 11238767 c.2389+6C>T splice site 0.00000825●●●●●●
350. 11226775 c.1592T>A p.M531K missense 0.00000825●●●●●●
351. 11240190 c.2391G>C splice site 0.00000825●●●●●●
352. 11230917 c.1987+8T>G splice site 0.00000825●●●●●●
353. 11231075 c.2017A>C p.S673R missense 0.00000825●●●●●●
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356. 11226781 c.1598G>A p.W533X nonsense 0.00000825●●●●●●
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358. 11224319 c.1467C>G p.Y489X nonsense 0.00000825●●●●●●
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360. 11224399 c.1547G>A p.G516D missense 0.00000825●●●●●●
361. 11233910 c.2201C>T p.T734I missense 0.00000825●●●●●●
362. 11240187 c.2390-2A>G essential splice site 0.00000825●●●●●●
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364. 11240182 c.2390-7C>A splice site 0.00000825●●●●●●
365. 11240197 c.2398G>T p.V800F missense 0.00000825●●●●●●
366. 11224402 c.1550C>G p.S517C missense 0.00000825●●●●●●
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368. 11213463 c.313+1G>T essential splice site 0.00000824●●●●●●
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370. 11226806 c.1623G>C p.K541N missense 0.00000824●●●●●●
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373. 11213429 c.280G>A p.D94N missense 0.00000824●●●●●●
374. 11238694 c.2322delC p.D774Efs*14 frameshift 0.00000824●●●●●●
375. 11231058 c.2000G>A p.C667Y missense 0.00000824●●●●●●
376. 11218158 c.908G>A p.R303Q missense 0.00000824●●●●●●
377. 11227612 c.1783C>T p.R595W missense 0.00000824●●●●●●
378. 11227550 c.1721G>A p.R574H missense 0.00000824●●●●●●
379. 11227545 c.1716T>G p.S572R missense 0.00000824●●●●●●
380. 11217337 c.791T>C p.M264T missense 0.00000824●●●●●●
381. 11224354 c.1502C>T p.A501V missense 0.00000824●●●●●●
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385. 11218077 c.827G>A p.C276Y missense 0.00000824●●●●●●
386. 11217304 c.758G>A p.R253Q missense 0.00000824●●●●●●
387. 11227590 c.1761C>G p.S587R missense 0.00000824●●●●●●
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390. 11218163 c.913T>G p.W305G missense 0.00000824●●●●●●
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392. 11218081 c.831G>C p.E277D missense 0.00000824●●●●●●
393. 11218109 c.859G>A p.G287S missense 0.00000824●●●●●●
394. 11217282 c.736G>A p.G246R missense 0.00000824●●●●●●
395. 11240274 c.2475C>A p.N825K missense 0.00000824●●●●●●
396. 11241975 c.2566G>A p.E856K missense 0.00000824●●●●●●
397. 11226828 c.1645G>C p.G549R missense 0.00000824●●●●●●
398. 11218160 c.910G>A p.D304N missense 0.00000824●●●●●●
399. 11213418 c.269A>G p.D90G missense 0.00000824●●●●●●
400. 11238705 c.2333G>T p.R778I missense 0.00000824●●●●●●
401. 11217268 c.722T>C p.F241S missense 0.00000824●●●●●●
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403. 11230840 c.1918A>T p.N640Y missense 0.00000824●●●●●●
404. 11217238 c.695-3C>T splice site 0.00000824●●●●●●
405. 11227550 c.1721G>T p.R574L missense 0.00000824●●●●●●
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410. 11213450 c.301G>A p.E101K missense 0.00000824●●●●●●
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412. 11213390 c.241C>T p.R81C missense 0.00000824●●●●●●
413. 11227576 c.1747C>G p.H583D missense 0.00000824●●●●●●
414. 11230876 c.1954A>G p.M652V missense 0.00000824●●●●●●
415. 11230828 c.1906G>A p.G636S missense 0.00000824●●●●●●
416. 11213361 c.212G>A p.G71E missense 0.00000824●●●●●●
417. 11227630 c.1801G>A p.D601N missense 0.00000824●●●●●●
418. 11218121 c.871A>C p.T291P missense 0.00000824●●●●●●
419. 11217336 c.790A>C p.M264L missense 0.00000824●●●●●●
420. 11226834 c.1651G>T p.D551Y missense 0.00000824●●●●●●
421. 11217297 c.751G>A p.G251S missense 0.00000824●●●●●●
422. 11218070 c.820delA frameshift 0.00000824●●●●●●
423. 11230807 c.1885T>G p.F629V missense 0.00000824●●●●●●
424. 11218165 c.915G>A p.W305X nonsense 0.00000824●●●●●●
425. 11213423 c.274C>G p.Q92E missense 0.00000824●●●●●●
426. 11213438 c.289A>G p.N97D missense 0.00000824●●●●●●
427. 11230858 c.1936C>A p.L646I missense 0.00000824●●●●●●
428. 11217368 c.817+5G>C splice site 0.00000824●●●●●●
429. 11230842 c.1920C>G p.N640K missense 0.00000824●●●●●●
430. 11230777 c.1855T>C p.F619L missense 0.00000824●●●●●●
431. 11218136 c.886_887insA p.Cys296Ter frameshift 0.00000824●●●●●●
432. 11227582 c.1753A>C p.I585L missense 0.00000824●●●●●●
433. 11227559 c.1730G>C p.W577S missense 0.00000824●●●●●●
434. 11230874 c.1952_1953delAT p.Met652GlyfsTer16 frameshift 0.00000824●●●●●●
435. 11241965 c.2556G>T p.M852I missense 0.00000824●●●●●●
436. 11240303 c.2504A>C p.E835A missense 0.00000824●●●●●●
437. 11238728 c.2356A>G p.S786G missense 0.00000824●●●●●●
438. 11218096 c.846C>A p.F282L missense 0.00000824●●●●●●
439. 11238687 c.2315T>C p.L772P missense 0.00000824●●●●●●
440. 11213363 c.214G>A p.D72N missense 0.00000824●●●●●●
441. 11213340 c.191T>C p.L64S missense 0.00000824●●●●●●
442. 11218077 c.827G>C p.C276S missense 0.00000824●●●●●●
443. 11227666 c.1837G>T p.V613F missense 0.00000824●●●●●●
444. 11213360 c.211delG p.Asp72ThrfsTer134 frameshift 0.00000824●●●●●●
445. 11227540 c.1711C>T p.L571F missense 0.00000824●●●●●●
446. 11217333 c.787G>A p.D263N missense 0.00000824●●●●●●
447. 11217302 c.756C>A p.S252R missense 0.00000824●●●●●●
448. 11227594 c.1765G>C p.D589H missense 0.00000824●●●●●●
449. 11230874 c.1952A>G p.D651G missense 0.00000824●●●●●●
450. 11213453 c.304C>T p.Q102X nonsense 0.00000824●●●●●●
451. 11217369 c.817+6C>T splice site 0.00000824●●●●●●
452. 11241961 c.2552A>G p.Q851R missense 0.00000824●●●●●●
453. 11238707 c.2335delG p.Gly779GlufsTer9 frameshift 0.00000824●●●●●●
454. 11227616 c.1787A>G p.K596R missense 0.00000824●●●●●●
455. 11218071 c.821C>A p.T274K missense 0.00000824●●●●●●
456. 11217258 c.712C>T p.P238S 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.