LAMA4 protein-altering variants in ExAC


The table below lists the LAMA4 protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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 frequencyPopulations*
1. 112430668 c.5423dupT p.Ser1809LysfsTer11 frameshift 0.00009916
2. 112450240 c.4150T>C p.Y1384H missense 0.00009908
3. 112462026 c.2891C>T p.S964F missense 0.00009900
4. 112437148 c.5009G>A p.R1670H missense 0.00009890
5. 112443256 c.4415G>A p.R1472H missense 0.00009889
6. 112506519 c.976G>A p.A326T missense 0.00009885
7. 112486426 c.1583G>A p.S528N missense 0.00009062
8. 112496595 c.1256T>C p.M419T missense 0.00009060
9. 112575286 c.67C>T p.R23C missense 0.00008823
10. 112575246 c.107T>C p.I36T missense 0.00008804
11. 112466091 c.2377C>T p.R793C missense 0.00008269
12. 112528252 c.392C>T p.P131L missense 0.00008257
13. 112450212 c.4178A>G p.Y1393C missense 0.00008256
14. 112493944 c.1399G>A p.V467I missense 0.00008254
15. 112440462 c.4697G>A p.R1566Q missense 0.00008242
16. 112454586 c.3640C>G p.L1214V missense 0.00008241
17. 112457428 c.3290A>G p.N1097S missense 0.00007428
18. 112493927 c.1416_1421dupTGACTA p.Asp473_Tyr474dup inframe 0.00007422
19. 112508719 c.878G>A p.S293N missense 0.00007417
20. 112461009 c.3034T>C p.Y1012H missense 0.00007416
21. 112443287 c.4384G>A p.A1462T missense 0.00007416
22. 112463419 c.2548G>A p.A850T missense 0.00007415
23. 112575241 c.112G>A p.G38R missense 0.00007314
24. 112480078 c.1652C>T p.A551V missense 0.00006988
25. 112512883 c.673G>C p.A225P missense 0.00006636
26. 112455789 c.3416A>G p.D1139G missense 0.00006612
27. 112508744 c.853G>A p.E285K missense 0.00006595
28. 112522809 c.503G>A p.R168K missense 0.00006591
29. 112463376 c.2591G>A p.R864Q missense 0.00006591
30. 112463368 c.2599C>G p.L867V missense 0.00006591
31. 112463377 c.2590C>T p.R864W missense 0.00006590
32. 112496574 c.1277G>A p.R426H missense 0.00006589
33. 112575190 c.163G>T p.V55L missense 0.00006076
34. 112513035 c.521A>G p.Y174C missense 0.00005971
35. 112453972 c.3796T>C p.F1266L missense 0.00005821
36. 112512978 c.578C>T p.S193L missense 0.00005801
37. 112537612 c.254A>G p.N85S missense 0.00005770
38. 112460485 c.3098T>G p.L1033R missense 0.00005769
39. 112508690 c.907C>G p.H303D missense 0.00005768
40. 112486463 c.1546G>T p.V516L missense 0.00005767
41. 112575165 c.188C>T p.A63V missense 0.00005520
42. 112508789 c.808G>A p.V270I missense 0.00005141
43. 112454085 c.3683G>A p.R1228H missense 0.00004956
44. 112457431 c.3287G>A p.R1096H missense 0.00004953
45. 112528274 c.370G>C p.G124R missense 0.00004952
46. 112528337 c.307C>G p.R103G missense 0.00004950
47. 112469523 c.2168G>A p.R723H missense 0.00004948
48. 112493823 c.1520G>A p.R507Q missense 0.00004946
49. 112454673 c.3553C>T p.L1185F missense 0.00004946
50. 112438956 c.4946G>T p.G1649V missense 0.00004944
51. 112463389 c.2578C>A p.P860T missense 0.00004943
52. 112476868 c.1837G>A p.A613T missense 0.00004943
53. 112496560 c.1291A>G p.T431A missense 0.00004942
54. 112493979 c.1364G>A p.R455Q missense 0.00004155
55. 112493974 c.1369C>G p.H457D missense 0.00004154
56. 112441646 c.4484G>A p.R1495H missense 0.00004153
57. 112439053 c.4849A>C p.N1617H missense 0.00004129
58. 112528289 c.355G>A p.G119R missense 0.00004126
59. 112457417 c.3301C>T p.H1101Y missense 0.00004126
60. 112430767 c.5324G>A p.R1775H missense 0.00004123
61. 112435279 c.5305G>A p.E1769K missense 0.00004123
62. 112443346 c.4325G>A p.R1442Q missense 0.00004123
63. 112440483 c.4676G>A p.R1559Q missense 0.00004122
64. 112440465 c.4694T>G p.L1565R missense 0.00004121
65. 112438951 c.4951G>A p.V1651M missense 0.00004120
66. 112493842 c.1501G>A p.A501T missense 0.00004120
67. 112461021 c.3022G>C p.V1008L missense 0.00004120
68. 112476883 c.1822G>A p.G608R missense 0.00004120
69. 112506459 c.1036G>A p.V346I missense 0.00004119
70. 112508805 c.794-2A>C essential splice site 0.00003578
71. 112575248 c.105C>G p.D35E missense 0.00003497
72. 112575162 c.191C>T p.A64V missense 0.00003391
73. 112512984 c.572G>A p.G191E missense 0.00003318
74. 112450276 c.4114G>A p.V1372M missense 0.00003311
75. 112512916 c.640C>T p.R214C missense 0.00003306
76. 112450156 c.4234T>G p.L1412V missense 0.00003306
77. 112466087 c.2381C>T p.T794M missense 0.00003306
78. 112512925 c.631A>C p.N211H missense 0.00003306
79. 112441499 c.4631G>A p.G1544D missense 0.00003305
80. 112455708 c.3497T>C p.I1166T missense 0.00003304
81. 112493953 c.1390T>C p.F464L missense 0.00003304
82. 112430675 c.5416G>A p.G1806S missense 0.00003304
83. 112452190 c.3927T>G p.I1309M missense 0.00003303
84. 112441569 c.4561C>T p.R1521C missense 0.00003303
85. 112450188 c.4202C>T p.P1401L missense 0.00003303
86. 112440501 c.4658G>A p.R1553Q missense 0.00003301
87. 112528301 c.343G>C p.D115H missense 0.00003300
88. 112469497 c.2194G>A p.E732K missense 0.00003298
89. 112466040 c.2428A>T p.R810W missense 0.00003298
90. 112499371 c.1120G>A p.A374T missense 0.00003297
91. 112469487 c.2204A>G p.N735S missense 0.00003297
92. 112479973 c.1757A>G p.H586R missense 0.00003297
93. 112454653 c.3573C>A p.F1191L missense 0.00003297
94. 112493861 c.1482T>A p.D494E missense 0.00003296
95. 112476055 c.2033C>T p.S678F missense 0.00003296
96. 112476094 c.1994T>C p.L665P missense 0.00003296
97. 112486396 c.1613G>A p.R538H missense 0.00003295
98. 112460348 c.3235G>A p.G1079S missense 0.00003295
99. 112462603 c.2749G>A p.V917I missense 0.00003295
100. 112496597 c.1254G>T p.K418N missense 0.00003295
101. 112463362 c.2605G>A p.E869K missense 0.00003295
102. 112463385 c.2582C>G p.P861R missense 0.00003295
103. 112496554 c.1297C>T p.R433W missense 0.00003295
104. 112451077 c.4112+1G>C essential splice site 0.00002960
105. 112575331 c.22C>T p.R8C missense 0.00002797
106. 112453956 c.3812G>T p.G1271V missense 0.00002513
107. 112513009 c.547A>G p.T183A missense 0.00002502
108. 112512883 c.673G>A p.A225T missense 0.00002488
109. 112453998 c.3770G>A p.R1257Q missense 0.00002486
110. 112493962 c.1381C>T p.R461C missense 0.00002482
111. 112450137 c.4253G>A p.S1418N missense 0.00002482
112. 112510336 c.790A>G p.T264A missense 0.00002481
113. 112455790 c.3415G>A p.D1139N missense 0.00002480
114. 112450157 c.4233T>A p.N1411K missense 0.00002479
115. 112435865 c.5185+1G>A essential splice site 0.00002478
116. 112457455 c.3263G>T p.S1088I missense 0.00002477
117. 112441535 c.4595A>T p.K1532I missense 0.00002477
118. 112510369 c.757G>A p.G253R missense 0.00002477
119. 112441568 c.4562G>A p.R1521H missense 0.00002477
120. 112450213 c.4177T>A p.Y1393N missense 0.00002477
121. 112537651 c.215T>C p.F72S missense 0.00002476
122. 112450228 c.4162G>A p.V1388I missense 0.00002476
123. 112528275 c.369G>T p.R123S missense 0.00002476
124. 112440504 c.4655T>C p.I1552T missense 0.00002476
125. 112457422 c.3296A>G p.Y1099C missense 0.00002476
126. 112435347 c.5237A>G p.H1746R missense 0.00002475
127. 112537645 c.221C>A p.T74N missense 0.00002475
128. 112430719 c.5372T>C p.I1791T missense 0.00002475
129. 112437176 c.4981T>G p.L1661V missense 0.00002474
130. 112439040 c.4862T>G p.I1621S missense 0.00002474
131. 112462098 c.2819T>C p.L940S missense 0.00002474
132. 112463323 c.2644A>C p.N882H missense 0.00002474
133. 112439043 c.4859C>T p.S1620F missense 0.00002474
134. 112462089 c.2828C>T p.P943L missense 0.00002474
135. 112479963 c.1767C>A p.D589E missense 0.00002473
136. 112479938 c.1792A>G p.S598G missense 0.00002473
137. 112479980 c.1750A>G p.I584V missense 0.00002473
138. 112476777 c.1928G>A p.R643Q missense 0.00002472
139. 112476853 c.1852A>G p.N618D missense 0.00002472
140. 112508708 c.889G>A p.G297R missense 0.00002472
141. 112476852 c.1853A>G p.N618S missense 0.00002472
142. 112476891 c.1814A>T p.D605V missense 0.00002472
143. 112486379 c.1630C>T p.L544F missense 0.00002472
144. 112440456 c.4703T>C p.L1568P missense 0.00002472
145. 112476889 c.1816A>G p.M606V missense 0.00002472
146. 112469404 c.2287G>T p.D763Y missense 0.00002472
147. 112463393 c.2574G>T p.M858I missense 0.00002471
148. 112471745 c.2120A>G p.D707G missense 0.00002471
149. 112471796 c.2069G>A p.R690H missense 0.00002471
150. 112575200 c.153C>A p.S51R missense 0.00002045
151. 112575193 c.160C>T p.R54C missense 0.00002023
152. 112575181 c.172G>A p.G58R missense 0.00001950
153. 112575313 c.40T>C p.W14R missense 0.00001916
154. 112513054 c.504-2A>G essential splice site 0.00001832
155. 112494000 c.1343G>T p.S448I missense 0.00001698
156. 112513026 c.530C>G p.P177R missense 0.00001683
157. 112451152 c.4038T>A p.F1346L missense 0.00001672
158. 112512862 c.694G>T p.A232S missense 0.00001667
159. 112512862 c.694G>A p.A232T missense 0.00001667
160. 112453970 c.3798C>A p.F1266L missense 0.00001664
161. 112512870 c.686A>C p.Y229S missense 0.00001662
162. 112443400 c.4271G>A p.G1424E missense 0.00001659
163. 112537664 c.202A>G p.N68D missense 0.00001657
164. 112512904 c.652G>A p.G218R missense 0.00001656
165. 112537663 c.203A>G p.N68S missense 0.00001655
166. 112461987 c.2930T>C p.V977A missense 0.00001654
167. 112528225 c.419C>T p.A140V missense 0.00001654
168. 112512951 c.605G>A p.C202Y missense 0.00001654
169. 112510389 c.737G>C p.G246A missense 0.00001654
170. 112510389 c.737G>A p.G246D missense 0.00001654
171. 112439066 c.4836C>A p.S1612R missense 0.00001653
172. 112439067 c.4835G>T p.S1612I missense 0.00001653
173. 112466090 c.2378G>A p.R793H missense 0.00001653
174. 112510353 c.773_775delAAG p.Glu258del inframe 0.00001652
175. 112537655 c.211T>A p.F71I missense 0.00001652
176. 112455684 c.3521A>G p.E1174G missense 0.00001652
177. 112455720 c.3485C>T p.P1162L missense 0.00001652
178. 112441502 c.4628A>G p.D1543G missense 0.00001652
179. 112454092 c.3676A>G p.I1226V missense 0.00001652
180. 112454067 c.3701G>A p.G1234E missense 0.00001651
181. 112443383 c.4288C>T p.P1430S missense 0.00001651
182. 112441579 c.4551G>C p.L1517F missense 0.00001651
183. 112457432 c.3286C>A p.R1096S missense 0.00001651
184. 112441568 c.4562G>T p.R1521L missense 0.00001651
185. 112457383 c.3335C>A p.P1112H missense 0.00001651
186. 112450243 c.4147C>T p.R1383W missense 0.00001651
187. 112437190 c.4967C>T p.S1656F missense 0.00001651
188. 112435886 c.5165G>A p.G1722D missense 0.00001651
189. 112493941 c.1402C>G p.L468V missense 0.00001651
190. 112435934 c.5117T>C p.I1706T missense 0.00001651
191. 112450242 c.4148G>T p.R1383L missense 0.00001651
192. 112452217 c.3900C>A p.Y1300X nonsense 0.00001651
193. 112457333 c.3385T>C p.Y1129H missense 0.00001651
194. 112457365 c.3353C>T p.T1118M missense 0.00001650
195. 112462106 c.2811G>T p.K937N missense 0.00001650
196. 112508765 c.832C>T p.R278W missense 0.00001650
197. 112462038 c.2879C>T p.S960L missense 0.00001650
198. 112479943 c.1787A>T p.E596V missense 0.00001649
199. 112462654 c.2698G>A p.V900I missense 0.00001649
200. 112435303 c.5281C>A p.P1761T missense 0.00001649
201. 112499346 c.1145A>G p.H382R missense 0.00001649
202. 112493909 c.1434G>T p.L478F missense 0.00001649
203. 112466025 c.2443A>G p.I815V missense 0.00001649
204. 112443370 c.4301C>T p.P1434L missense 0.00001649
205. 112508729 c.868G>A p.G290R missense 0.00001649
206. 112466034 c.2434C>T p.R812X nonsense 0.00001649
207. 112443347 c.4324C>T p.R1442W missense 0.00001649
208. 112537619 c.247G>A p.D83N missense 0.00001649
209. 112435287 c.5297G>A p.G1766D missense 0.00001649
210. 112435321 c.5263C>T p.P1755S missense 0.00001649
211. 112469524 c.2167C>T p.R723C missense 0.00001649
212. 112430735 c.5356A>G p.I1786V missense 0.00001649
213. 112466039 c.2429G>T p.R810M missense 0.00001649
214. 112469509 c.2182A>G p.R728G missense 0.00001649
215. 112454684 c.3542T>G p.L1181R missense 0.00001649
216. 112522864 c.448A>T p.N150Y missense 0.00001649
217. 112430771 c.5320C>T p.P1774S missense 0.00001649
218. 112466024 c.2444T>C p.I815T missense 0.00001649
219. 112508702 c.895G>A p.A299T missense 0.00001648
220. 112508687 c.910G>A p.V304M missense 0.00001648
221. 112437143 c.5014A>G p.R1672G missense 0.00001648
222. 112463353 c.2614G>C p.D872H missense 0.00001648
223. 112508666 c.931A>G p.I311V missense 0.00001648
224. 112460327 c.3256A>G p.N1086D missense 0.00001648
225. 112463373 c.2594C>T p.P865L missense 0.00001648
226. 112506506 c.989T>C p.I330T missense 0.00001648
227. 112508696 c.901C>T p.H301Y missense 0.00001648
228. 112440436 c.4723_4725delACT p.Thr1575del inframe 0.00001648
229. 112476859 c.1846G>A p.A616T missense 0.00001648
230. 112462591 c.2761C>A p.P921T missense 0.00001648
231. 112508699 c.898G>A p.A300T missense 0.00001648
232. 112469395 c.2296G>A p.A766T missense 0.00001648
233. 112463412 c.2555C>T p.T852M missense 0.00001648
234. 112460441 c.3142T>C p.S1048P missense 0.00001648
235. 112537605 c.261_262dupTT p.Ser88PhefsTer111 frameshift 0.00001648
236. 112476780 c.1925A>G p.D642G missense 0.00001648
237. 112476073 c.2015T>G p.L672R missense 0.00001648
238. 112437131 c.5026G>A p.G1676R missense 0.00001648
239. 112461004 c.3039C>G p.N1013K missense 0.00001648
240. 112506482 c.1013C>T p.T338M missense 0.00001648
241. 112471743 c.2122G>T p.A708S missense 0.00001647
242. 112460438 c.3145G>A p.G1049S missense 0.00001647
243. 112460383 c.3200G>A p.R1067H missense 0.00001647
244. 112496541 c.1310A>G p.D437G missense 0.00001647
245. 112471806 c.2059A>T p.T687S missense 0.00001647
246. 112496562 c.1289T>C p.F430S missense 0.00001647
247. 112460417 c.3166A>G p.I1056V missense 0.00001647
248. 112496554 c.1297C>G p.R433G missense 0.00001647
249. 112575255 c.98C>T p.P33L missense 0.00001645
250. 112575261 c.92C>T p.A31V missense 0.00001567
251. 112575264 c.89A>G p.N30S missense 0.00001498
252. 112575286 c.67C>G p.R23G missense 0.00001103
253. 112575290 c.63C>G p.C21W missense 0.00001067
254. 112575331 c.22C>A p.R8S missense 0.00000932
255. 112575342 c.11G>A p.S4N missense 0.00000923
256. 112575345 c.8dupT p.Leu3PhefsTer33 frameshift 0.00000921
257. 112508800 c.797G>A p.C266Y missense 0.00000882
258. 112508786 c.811T>C p.W271R missense 0.00000855
259. 112508780 c.817C>A p.L273M missense 0.00000848
260. 112513030 c.526A>G p.N176D missense 0.00000845
261. 112441669 c.4461G>T p.Q1487H missense 0.00000844
262. 112466121 c.2347G>A p.E783K missense 0.00000841
263. 112453954 c.3813+1G>T essential splice site 0.00000839
264. 112499425 c.1066G>A p.A356T missense 0.00000838
265. 112451150 c.4040A>G p.Y1347C missense 0.00000838
266. 112466118 c.2350G>A p.V784I missense 0.00000837
267. 112441659 c.4471C>T p.R1491C missense 0.00000836
268. 112451154 c.4036T>A p.F1346I missense 0.00000835
269. 112453962 c.3806C>T p.A1269V missense 0.00000835
270. 112512857 c.699G>T p.R233S missense 0.00000835
271. 112510408 c.719-1G>A essential splice site 0.00000834
272. 112453965 c.3803A>C p.Y1268S missense 0.00000834
273. 112480066 c.1664A>T p.Y555F missense 0.00000833
274. 112499421 c.1070C>T p.S357F missense 0.00000833
275. 112451160 c.4030A>G p.K1344E missense 0.00000832
276. 112512873 c.683A>G p.Y228C missense 0.00000831
277. 112510404 c.722G>C p.C241S missense 0.00000831
278. 112451163 c.4027G>A p.E1343K missense 0.00000831
279. 112443403 c.4268G>C p.G1423A missense 0.00000830
280. 112451165 c.4025G>A p.S1342N missense 0.00000830
281. 112512990 c.566G>T p.C189F missense 0.00000830
282. 112512994 c.562G>T p.D188Y missense 0.00000830
283. 112512880 c.676C>T p.P226S missense 0.00000830
284. 112462701 c.2651A>T p.K884I missense 0.00000829
285. 112480056 c.1674A>G p.I558M missense 0.00000829
286. 112512889 c.667C>T p.R223C missense 0.00000829
287. 112453989 c.3779A>C p.Q1260P missense 0.00000829
288. 112510396 c.730G>A p.G244R missense 0.00000829
289. 112480052 c.1678G>A p.G560R missense 0.00000828
290. 112510393 c.733G>A p.G245R missense 0.00000828
291. 112466100 c.2368G>T p.D790Y missense 0.00000828
292. 112455808 c.3397T>C p.S1133P missense 0.00000828
293. 112450131 c.4259delA p.N1420Ifs*18 frameshift 0.00000828
294. 112462695 c.2657A>G p.E886G missense 0.00000828
295. 112441632 c.4498A>G p.M1500V missense 0.00000828
296. 112450122 c.4266+2T>G essential splice site 0.00000828
297. 112450273 c.4117G>C p.D1373H missense 0.00000827
298. 112430659 c.5432A>G p.N1811S missense 0.00000827
299. 112451210 c.3980G>A p.G1327E missense 0.00000827
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391. 112462113 c.2804A>G p.H935R missense 0.00000825
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393. 112462040 c.2877T>G p.F959L missense 0.00000825
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396. 112528336 c.308G>T p.R103L missense 0.00000825
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403. 112480025 c.1705C>G p.L569V missense 0.00000825
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405. 112430729 c.5362C>T p.H1788Y missense 0.00000825
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416. 112435374 c.5210A>G p.Q1737R missense 0.00000825
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418. 112457429 c.3289A>C p.N1097H missense 0.00000825
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422. 112466073 c.2395C>T p.R799X nonsense 0.00000825
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425. 112437173 c.4984A>G p.K1662E missense 0.00000825
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427. 112480034 c.1696C>T p.Q566X nonsense 0.00000825
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429. 112469520 c.2171T>G p.L724R missense 0.00000825
430. 112462106 c.2811G>C p.K937N missense 0.00000825
431. 112435336 c.5248C>T p.P1750S missense 0.00000825
432. 112461080 c.2963C>T p.T988I missense 0.00000825
433. 112430758 c.5333C>A p.P1778H missense 0.00000825
434. 112430731 c.5360G>A p.R1787H missense 0.00000825
435. 112528309 c.335A>G p.K112R missense 0.00000825
436. 112528301 c.343G>A p.D115N missense 0.00000825
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438. 112528277 c.367A>G p.R123G missense 0.00000825
439. 112476148 c.1940C>T p.A647V missense 0.00000825
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441. 112457374 c.3344T>C p.L1115P missense 0.00000825
442. 112435296 c.5288T>G p.F1763C missense 0.00000825
443. 112480015 c.1715T>C p.L572P missense 0.00000825
444. 112469515 c.2176C>T p.Q726X nonsense 0.00000825
445. 112440373 c.4786G>T p.V1596L missense 0.00000825
446. 112430709 c.5382C>G p.H1794Q missense 0.00000825
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448. 112493928 c.1415A>T p.D472V missense 0.00000825
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451. 112462596 c.2756C>T p.S919F missense 0.00000824
452. 112496596 c.1255A>T p.M419L missense 0.00000824
453. 112469461 c.2230G>A p.A744T missense 0.00000824
454. 112469441 c.2250C>G p.N750K missense 0.00000824
455. 112454688 c.3538G>A p.A1180T missense 0.00000824
456. 112440474 c.4685T>C p.I1562T missense 0.00000824
457. 112508750 c.847T>C p.S283P missense 0.00000824
458. 112460955 c.3088C>T p.R1030X nonsense 0.00000824
459. 112476787 c.1918A>G p.T640A missense 0.00000824
460. 112476892 c.1813G>A p.D605N missense 0.00000824
461. 112463420 c.2547G>C p.K849N missense 0.00000824
462. 112443246 c.4425T>G p.F1475L missense 0.00000824
463. 112506518 c.977C>T p.A326V missense 0.00000824
464. 112493835 c.1508C>T p.A503V missense 0.00000824
465. 112476083 c.2005G>A p.A669T missense 0.00000824
466. 112486471 c.1538A>G p.Q513R missense 0.00000824
467. 112476842 c.1863A>C p.E621D missense 0.00000824
468. 112476075 c.2013A>C p.E671D missense 0.00000824
469. 112460429 c.3154G>C p.V1052L missense 0.00000824
470. 112469448 c.2243dupT p.Met748IlefsTer16 frameshift 0.00000824
471. 112471798 c.2067G>T p.R689S missense 0.00000824
472. 112471797 c.2068C>T p.R690C missense 0.00000824
473. 112486399 c.1610C>G p.P537R missense 0.00000824
474. 112471788 c.2077G>A p.G693R missense 0.00000824
475. 112462638 c.2714C>T p.T905I missense 0.00000824
476. 112438975 c.4927delT p.Tyr1643ThrfsTer11 frameshift 0.00000824
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480. 112461014 c.3029G>A p.S1010N missense 0.00000824
481. 112454583 c.3643G>A p.G1215R missense 0.00000824
482. 112440438 c.4721C>T p.P1574L missense 0.00000824
483. 112537597 c.269A>G p.E90G missense 0.00000824
484. 112496559 c.1292C>G p.T431S missense 0.00000824
485. 112476829 c.1876T>C p.Y626H missense 0.00000824
486. 112469379 c.2312T>C p.V771A missense 0.00000824
487. 112461045 c.2998G>C p.E1000Q missense 0.00000824
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489. 112537619 c.247G>C p.D83H missense 0.00000824
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491. 112522807 c.503+2T>C essential splice site 0.00000824
492. 112496521 c.1330T>A p.Y444N missense 0.00000824
493. 112476115 c.1973A>C p.H658P missense 0.00000824
494. 112460483 c.3100G>T p.A1034S missense 0.00000824
495. 112522841 c.471dupT p.Asn158Ter frameshift 0.00000824
496. 112460462 c.3121G>T p.A1041S missense 0.00000824
497. 112438977 c.4925C>A p.T1642N missense 0.00000824
498. 112506537 c.958G>A p.E320K missense 0.00000824
499. 112463374 c.2593C>T p.P865S missense 0.00000824
500. 112460413 c.3170C>A p.T1057K missense 0.00000824
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513. 112499372 c.1119C>A p.H373Q missense 0.00000824
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515. 112440475 c.4684A>T p.I1562F missense 0.00000824
516. 112440394 c.4765G>A p.G1589S missense 0.00000824
517. 112508750 c.847T>G p.S283A missense 0.00000824
518. 112479952 c.1778A>C p.E593A missense 0.00000824
519. 112469481 c.2210C>A p.T737K missense 0.00000824
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521. 112496659 c.1192T>C p.Y398H missense 0.00000824
522. 112479972 c.1758T>G p.H586Q missense 0.00000824
523. 112460973 c.3070A>G p.T1024A missense 0.00000824
524. 112508705 c.892G>A p.A298T missense 0.00000824
525. 112508692 c.905G>A p.R302K missense 0.00000824
526. 112476807 c.1898C>T p.T633I missense 0.00000824
527. 112506530 c.965A>G p.E322G missense 0.00000824
528. 112443286 c.4385C>G p.A1462G missense 0.00000824
529. 112493857 c.1486G>A p.E496K missense 0.00000824
530. 112476094 c.1994T>G p.L665R missense 0.00000824
531. 112463437 c.2530A>G p.S844G missense 0.00000824
532. 112476082 c.2006C>A p.A669D missense 0.00000824
533. 112463394 c.2573T>C p.M858T missense 0.00000824
534. 112460438 c.3145G>C p.G1049R missense 0.00000824
535. 112506451 c.1044A>T p.E348D missense 0.00000824
536. 112486432 c.1577C>A p.S526Y missense 0.00000824
537. 112471799 c.2066G>C p.R689T missense 0.00000824
538. 112461002 c.3041T>A p.F1014Y missense 0.00000824
539. 112471790 c.2075G>A p.G692D missense 0.00000824
540. 112437127 c.5030C>T p.T1677I missense 0.00000824
541. 112499354 c.1137G>T p.E379D missense 0.00000824
542. 112471779 c.2086G>A p.A696T missense 0.00000824
543. 112454643 c.3583A>G p.M1195V missense 0.00000824
544. 112440454 c.4705G>C p.E1569Q missense 0.00000824
545. 112537598 c.268G>A p.E90K missense 0.00000824
546. 112508745 c.852C>G p.I284M missense 0.00000824
547. 112476837 c.1868T>C p.I623T missense 0.00000824
548. 112469426 c.2265G>T p.W755C missense 0.00000824
549. 112454673 c.3553C>A p.L1185I missense 0.00000824
550. 112438996 c.4906G>A p.G1636S missense 0.00000824
551. 112508671 c.926C>T p.A309V missense 0.00000824
552. 112476778 c.1927C>T p.R643X nonsense 0.00000824
553. 112496545 c.1306G>A p.V436M missense 0.00000824
554. 112476142 c.1946G>A p.S649N missense 0.00000824
555. 112460489 c.3094A>C p.K1032Q missense 0.00000824
556. 112460465 c.3118G>A p.A1040T missense 0.00000824
557. 112471752 c.2113C>T p.L705F missense 0.00000824
558. 112486450 c.1559T>C p.M520T missense 0.00000824
559. 112476062 c.2026G>C p.A676P missense 0.00000824
560. 112460416 c.3167T>C p.I1056T missense 0.00000824
561. 112460366 c.3217C>T p.R1073X nonsense 0.00000824
562. 112460321 c.3261+1G>T essential splice site 0.00000824
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564. 112522857 c.455C>T p.A152V missense 0.00000824
565. 112506498 c.997A>C p.N333H missense 0.00000824
566. 112493820 c.1523A>T p.D508V missense 0.00000824
567. 112437068 c.5089C>T p.Q1697X nonsense 0.00000824
568. 112486412 c.1597T>C p.S533P missense 0.00000824
569. 112460990 c.3053A>G p.Y1018C missense 0.00000824
570. 112499379 c.1112T>C p.I371T missense 0.00000824
571. 112462611 c.2741C>A p.S914Y missense 0.00000824
572. 112496661 c.1190A>G p.Y397C missense 0.00000824
573. 112469481 c.2210C>T p.T737M missense 0.00000824
574. 112440445 c.4714C>T p.L1572F missense 0.00000824
575. 112496630 c.1221G>T p.K407N missense 0.00000824
576. 112462080 c.2837G>A p.S946N missense 0.00000824
577. 112438986 c.4916A>G p.E1639G missense 0.00000824
578. 112476826 c.1879G>A p.V627I missense 0.00000824
579. 112460982 c.3061G>A p.D1021N missense 0.00000824
580. 112440399 c.4760T>C p.L1587S missense 0.00000824
581. 112496517 c.1334A>G p.E445G missense 0.00000824
582. 112506521 c.974_975insA p.Tyr325Ter frameshift 0.00000824
583. 112506534 c.961A>G p.R321G missense 0.00000824
584. 112443321 c.4350C>A p.C1450X nonsense 0.00000824
585. 112506519 c.976G>T p.A326S missense 0.00000824
586. 112493905 c.1438G>C p.D480H missense 0.00000824
587. 112476107 c.1981G>A p.E661K missense 0.00000824
588. 112463445 c.2522C>T p.S841L missense 0.00000824
589. 112522814 c.498T>A p.C166X nonsense 0.00000824
590. 112506482 c.1013C>A p.T338K missense 0.00000824
591. 112506454 c.1041G>C p.E347D missense 0.00000824
592. 112486432 c.1577C>T p.S526F missense 0.00000824
593. 112460330 c.3253G>A p.V1085I missense 0.00000824
594. 112499363 c.1128G>C p.Q376H missense 0.00000824
595. 112469439 c.2252A>G p.N751S missense 0.00000824
596. 112476119 c.1969T>A p.Y657N missense 0.00000824
597. 112508770 c.827C>G p.A276G missense 0.00000824
598. 112537600 c.266A>G p.N89S missense 0.00000824
599. 112508746 c.851T>C p.I284T missense 0.00000824
600. 112469446 c.2245G>A p.A749T missense 0.00000824
601. 112439029 c.4873T>C p.S1625P missense 0.00000824
602. 112508672 c.925G>A p.A309T missense 0.00000824
603. 112469449 c.2242A>C p.M748L missense 0.00000824
604. 112460954 c.3089G>C p.R1030P missense 0.00000824
605. 112506498 c.997A>G p.N333D missense 0.00000824
606. 112493824 c.1519C>T p.R507W missense 0.00000824
607. 112476083 c.2005G>T p.A669S missense 0.00000824
608. 112437085 c.5072T>C p.V1691A missense 0.00000824
609. 112440438 c.4721C>G p.P1574R missense 0.00000824
610. 112486457 c.1552G>A p.E518K missense 0.00000824
611. 112469401 c.2290delT p.Ser764LeufsTer8 frameshift 0.00000824
612. 112460391 c.3192G>T p.Q1064H missense 0.00000824
613. 112471749 c.2116A>G p.S706G missense 0.00000824
614. 112462620 c.2732C>T p.P911L missense 0.00000824
615. 112438959 c.4943delG p.Gly1648GlufsTer6 frameshift 0.00000824
616. 112486417 c.1592C>T p.A531V missense 0.00000824
617. 112460356 c.3227C>A p.A1076D missense 0.00000824
618. 112461018 c.3025A>C p.I1009L missense 0.00000824
619. 112499341 c.1150A>G p.M384V missense 0.00000824
620. 112496631 c.1220A>G p.K407R missense 0.00000824
621. 112479982 c.1748C>G p.A583G missense 0.00000824
622. 112462093 c.2824G>C p.V942L missense 0.00000824
623. 112537579 c.287G>A p.G96E missense 0.00000824
624. 112508743 c.854A>T p.E285V missense 0.00000824
625. 112476828 c.1877A>G p.Y626C missense 0.00000824
626. 112461021 c.3022G>A p.V1008M missense 0.00000824
627. 112469410 c.2281C>T p.H761Y missense 0.00000824
628. 112454580 c.3646G>A p.V1216I missense 0.00000824
629. 112440411 c.4748G>A p.G1583D missense 0.00000824
630. 112506528 c.967A>T p.N323Y missense 0.00000824
631. 112493907 c.1436C>A p.S479X nonsense 0.00000824
632. 112476114 c.1974T>G p.H658Q missense 0.00000824
633. 112463474 c.2493T>G p.F831L missense 0.00000824
634. 112460467 c.3116G>A p.R1039Q missense 0.00000824
635. 112463428 c.2539G>A p.D847N missense 0.00000824
636. 112460443 c.3140G>A p.G1047D missense 0.00000824
637. 112438965 c.4937C>T p.T1646I missense 0.00000824
638. 112506536 c.959A>G p.E320G missense 0.00000824
639. 112461038 c.3005C>A p.A1002D missense 0.00000824
640. 112460332 c.3251T>C p.M1084T missense 0.00000824
641. 112522837 c.475G>A p.E159K missense 0.00000824
642. 112469512 c.2179T>C p.S727P missense 0.00000824
643. 112486445 c.1564G>A p.V522M missense 0.00000824
644. 112471807 c.2058C>A p.D686E 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.