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. 112463368 c.2599C>G p.L867V missense 0.00006591
30. 112463376 c.2591G>A p.R864Q 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. 112454673 c.3553C>T p.L1185F missense 0.00004946
49. 112493823 c.1520G>A p.R507Q 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. 112466087 c.2381C>T p.T794M missense 0.00003306
76. 112512916 c.640C>T p.R214C missense 0.00003306
77. 112450156 c.4234T>G p.L1412V 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. 112430675 c.5416G>A p.G1806S missense 0.00003304
82. 112493953 c.1390T>C p.F464L 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. 112454653 c.3573C>A p.F1191L missense 0.00003297
92. 112469487 c.2204A>G p.N735S missense 0.00003297
93. 112479973 c.1757A>G p.H586R missense 0.00003297
94. 112476094 c.1994T>C p.L665P missense 0.00003296
95. 112493861 c.1482T>A p.D494E missense 0.00003296
96. 112476055 c.2033C>T p.S678F missense 0.00003296
97. 112460348 c.3235G>A p.G1079S missense 0.00003295
98. 112463385 c.2582C>G p.P861R missense 0.00003295
99. 112463362 c.2605G>A p.E869K missense 0.00003295
100. 112496554 c.1297C>T p.R433W missense 0.00003295
101. 112496597 c.1254G>T p.K418N missense 0.00003295
102. 112486396 c.1613G>A p.R538H missense 0.00003295
103. 112462603 c.2749G>A p.V917I 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. 112450213 c.4177T>A p.Y1393N missense 0.00002477
117. 112510369 c.757G>A p.G253R missense 0.00002477
118. 112441535 c.4595A>T p.K1532I missense 0.00002477
119. 112457455 c.3263G>T p.S1088I missense 0.00002477
120. 112441568 c.4562G>A p.R1521H missense 0.00002477
121. 112457422 c.3296A>G p.Y1099C missense 0.00002476
122. 112528275 c.369G>T p.R123S missense 0.00002476
123. 112537651 c.215T>C p.F72S missense 0.00002476
124. 112440504 c.4655T>C p.I1552T missense 0.00002476
125. 112450228 c.4162G>A p.V1388I missense 0.00002476
126. 112537645 c.221C>A p.T74N missense 0.00002475
127. 112430719 c.5372T>C p.I1791T missense 0.00002475
128. 112435347 c.5237A>G p.H1746R missense 0.00002475
129. 112437176 c.4981T>G p.L1661V missense 0.00002474
130. 112439043 c.4859C>T p.S1620F missense 0.00002474
131. 112439040 c.4862T>G p.I1621S missense 0.00002474
132. 112463323 c.2644A>C p.N882H missense 0.00002474
133. 112462089 c.2828C>T p.P943L missense 0.00002474
134. 112462098 c.2819T>C p.L940S missense 0.00002474
135. 112479980 c.1750A>G p.I584V missense 0.00002473
136. 112479938 c.1792A>G p.S598G missense 0.00002473
137. 112479963 c.1767C>A p.D589E missense 0.00002473
138. 112476853 c.1852A>G p.N618D missense 0.00002472
139. 112476889 c.1816A>G p.M606V missense 0.00002472
140. 112469404 c.2287G>T p.D763Y missense 0.00002472
141. 112476777 c.1928G>A p.R643Q missense 0.00002472
142. 112440456 c.4703T>C p.L1568P missense 0.00002472
143. 112486379 c.1630C>T p.L544F missense 0.00002472
144. 112476891 c.1814A>T p.D605V missense 0.00002472
145. 112508708 c.889G>A p.G297R missense 0.00002472
146. 112476852 c.1853A>G p.N618S 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>A p.A232T missense 0.00001667
159. 112512862 c.694G>T p.A232S 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. 112510389 c.737G>A p.G246D missense 0.00001654
167. 112528225 c.419C>T p.A140V missense 0.00001654
168. 112461987 c.2930T>C p.V977A missense 0.00001654
169. 112512951 c.605G>A p.C202Y missense 0.00001654
170. 112510389 c.737G>C p.G246A missense 0.00001654
171. 112439066 c.4836C>A p.S1612R missense 0.00001653
172. 112466090 c.2378G>A p.R793H missense 0.00001653
173. 112439067 c.4835G>T p.S1612I missense 0.00001653
174. 112510353 c.773_775delAAG p.Glu258del inframe 0.00001652
175. 112454092 c.3676A>G p.I1226V missense 0.00001652
176. 112537655 c.211T>A p.F71I missense 0.00001652
177. 112441502 c.4628A>G p.D1543G missense 0.00001652
178. 112455684 c.3521A>G p.E1174G missense 0.00001652
179. 112455720 c.3485C>T p.P1162L missense 0.00001652
180. 112441568 c.4562G>T p.R1521L missense 0.00001651
181. 112435886 c.5165G>A p.G1722D missense 0.00001651
182. 112457432 c.3286C>A p.R1096S missense 0.00001651
183. 112435934 c.5117T>C p.I1706T missense 0.00001651
184. 112450243 c.4147C>T p.R1383W missense 0.00001651
185. 112457383 c.3335C>A p.P1112H missense 0.00001651
186. 112443383 c.4288C>T p.P1430S missense 0.00001651
187. 112437190 c.4967C>T p.S1656F missense 0.00001651
188. 112457333 c.3385T>C p.Y1129H missense 0.00001651
189. 112493941 c.1402C>G p.L468V missense 0.00001651
190. 112452217 c.3900C>A p.Y1300X nonsense 0.00001651
191. 112450242 c.4148G>T p.R1383L missense 0.00001651
192. 112454067 c.3701G>A p.G1234E missense 0.00001651
193. 112441579 c.4551G>C p.L1517F missense 0.00001651
194. 112508765 c.832C>T p.R278W missense 0.00001650
195. 112457365 c.3353C>T p.T1118M missense 0.00001650
196. 112462038 c.2879C>T p.S960L missense 0.00001650
197. 112462106 c.2811G>T p.K937N missense 0.00001650
198. 112479943 c.1787A>T p.E596V missense 0.00001649
199. 112469524 c.2167C>T p.R723C missense 0.00001649
200. 112469509 c.2182A>G p.R728G missense 0.00001649
201. 112499346 c.1145A>G p.H382R missense 0.00001649
202. 112454684 c.3542T>G p.L1181R missense 0.00001649
203. 112435321 c.5263C>T p.P1755S missense 0.00001649
204. 112466025 c.2443A>G p.I815V missense 0.00001649
205. 112466024 c.2444T>C p.I815T missense 0.00001649
206. 112435287 c.5297G>A p.G1766D missense 0.00001649
207. 112508729 c.868G>A p.G290R missense 0.00001649
208. 112430735 c.5356A>G p.I1786V missense 0.00001649
209. 112466039 c.2429G>T p.R810M missense 0.00001649
210. 112537619 c.247G>A p.D83N missense 0.00001649
211. 112493909 c.1434G>T p.L478F missense 0.00001649
212. 112522864 c.448A>T p.N150Y missense 0.00001649
213. 112443370 c.4301C>T p.P1434L missense 0.00001649
214. 112462654 c.2698G>A p.V900I missense 0.00001649
215. 112430771 c.5320C>T p.P1774S missense 0.00001649
216. 112443347 c.4324C>T p.R1442W missense 0.00001649
217. 112466034 c.2434C>T p.R812X nonsense 0.00001649
218. 112435303 c.5281C>A p.P1761T missense 0.00001649
219. 112460327 c.3256A>G p.N1086D missense 0.00001648
220. 112462591 c.2761C>A p.P921T missense 0.00001648
221. 112508699 c.898G>A p.A300T missense 0.00001648
222. 112469395 c.2296G>A p.A766T missense 0.00001648
223. 112476073 c.2015T>G p.L672R missense 0.00001648
224. 112437131 c.5026G>A p.G1676R missense 0.00001648
225. 112508696 c.901C>T p.H301Y missense 0.00001648
226. 112476859 c.1846G>A p.A616T missense 0.00001648
227. 112508702 c.895G>A p.A299T missense 0.00001648
228. 112463353 c.2614G>C p.D872H missense 0.00001648
229. 112506506 c.989T>C p.I330T missense 0.00001648
230. 112440436 c.4723_4725delACT p.Thr1575del inframe 0.00001648
231. 112437143 c.5014A>G p.R1672G missense 0.00001648
232. 112508687 c.910G>A p.V304M missense 0.00001648
233. 112537605 c.261_262dupTT p.Ser88PhefsTer111 frameshift 0.00001648
234. 112508666 c.931A>G p.I311V missense 0.00001648
235. 112460441 c.3142T>C p.S1048P missense 0.00001648
236. 112506482 c.1013C>T p.T338M missense 0.00001648
237. 112461004 c.3039C>G p.N1013K missense 0.00001648
238. 112463373 c.2594C>T p.P865L missense 0.00001648
239. 112463412 c.2555C>T p.T852M missense 0.00001648
240. 112476780 c.1925A>G p.D642G missense 0.00001648
241. 112496554 c.1297C>G p.R433G missense 0.00001647
242. 112471806 c.2059A>T p.T687S missense 0.00001647
243. 112460438 c.3145G>A p.G1049S missense 0.00001647
244. 112496541 c.1310A>G p.D437G missense 0.00001647
245. 112460383 c.3200G>A p.R1067H missense 0.00001647
246. 112471743 c.2122G>T p.A708S missense 0.00001647
247. 112460417 c.3166A>G p.I1056V missense 0.00001647
248. 112496562 c.1289T>C p.F430S 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. 112453962 c.3806C>T p.A1269V missense 0.00000835
269. 112451154 c.4036T>A p.F1346I 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. 112512990 c.566G>T p.C189F missense 0.00000830
280. 112451165 c.4025G>A p.S1342N missense 0.00000830
281. 112443403 c.4268G>C p.G1423A missense 0.00000830
282. 112512994 c.562G>T p.D188Y missense 0.00000830
283. 112512880 c.676C>T p.P226S missense 0.00000830
284. 112480056 c.1674A>G p.I558M missense 0.00000829
285. 112510396 c.730G>A p.G244R missense 0.00000829
286. 112453989 c.3779A>C p.Q1260P missense 0.00000829
287. 112512889 c.667C>T p.R223C missense 0.00000829
288. 112462701 c.2651A>T p.K884I missense 0.00000829
289. 112455808 c.3397T>C p.S1133P missense 0.00000828
290. 112450122 c.4266+2T>G essential splice site 0.00000828
291. 112462695 c.2657A>G p.E886G missense 0.00000828
292. 112510393 c.733G>A p.G245R missense 0.00000828
293. 112450131 c.4259delA p.N1420Ifs*18 frameshift 0.00000828
294. 112441632 c.4498A>G p.M1500V missense 0.00000828
295. 112480052 c.1678G>A p.G560R missense 0.00000828
296. 112466100 c.2368G>T p.D790Y missense 0.00000828
297. 112454025 c.3743A>G p.D1248G missense 0.00000827
298. 112450140 c.4250C>T p.A1417V missense 0.00000827
299. 112430654 c.5437T>C p.C1813R missense 0.00000827
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319. 112441518 c.4612C>T p.Q1538X nonsense 0.00000826
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333. 112450153 c.4237T>C p.S1413P missense 0.00000826
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345. 112510350 c.776G>A p.G259D missense 0.00000826
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347. 112451213 c.3977T>C p.V1326A missense 0.00000826
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349. 112435392 c.5192G>A p.R1731K missense 0.00000826
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355. 112441505 c.4625A>T p.N1542I missense 0.00000826
356. 112440516 c.4645-2A>C essential splice site 0.00000826
357. 112441580 c.4550T>A p.L1517X nonsense 0.00000826
358. 112528232 c.412C>T p.H138Y missense 0.00000826
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371. 112522889 c.423T>G p.N141K missense 0.00000825
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373. 112443371 c.4300C>T p.P1434S missense 0.00000825
374. 112435914 c.5137G>A p.V1713I missense 0.00000825
375. 112476148 c.1940C>T p.A647V missense 0.00000825
376. 112462668 c.2684A>T p.D895V missense 0.00000825
377. 112457380 c.3338T>C p.V1113A missense 0.00000825
378. 112435361 c.5223C>A p.D1741E missense 0.00000825
379. 112466049 c.2419A>G p.S807G missense 0.00000825
380. 112437173 c.4984A>G p.K1662E missense 0.00000825
381. 112461070 c.2973C>A p.N991K missense 0.00000825
382. 112499390 c.1101C>A p.S367R missense 0.00000825
383. 112452288 c.3829A>G p.I1277V missense 0.00000825
384. 112441557 c.4573A>G p.M1525V missense 0.00000825
385. 112430732 c.5359C>T p.R1787C missense 0.00000825
386. 112469520 c.2171T>C p.L724P missense 0.00000825
387. 112443356 c.4315C>A p.L1439I missense 0.00000825
388. 112440373 c.4786G>T p.V1596L missense 0.00000825
389. 112462106 c.2811G>C p.K937N missense 0.00000825
390. 112480025 c.1705C>G p.L569V missense 0.00000825
391. 112430767 c.5324G>C p.R1775P missense 0.00000825
392. 112493928 c.1415A>T p.D472V missense 0.00000825
393. 112469527 c.2164C>G p.Q722E missense 0.00000825
394. 112430714 c.5377G>A p.G1793R missense 0.00000825
395. 112440501 c.4658G>C p.R1553P missense 0.00000825
396. 112528342 c.302_303delGC p.Cys101SerfsTer10 frameshift 0.00000825
397. 112443379 c.4292C>T p.S1431L missense 0.00000825
398. 112435374 c.5210A>G p.Q1737R missense 0.00000825
399. 112528305 c.339T>A p.C113X nonsense 0.00000825
400. 112480007 c.1723C>G p.L575V missense 0.00000825
401. 112466062 c.2406C>G p.S802R missense 0.00000825
402. 112528301 c.343G>A p.D115N missense 0.00000825
403. 112452297 c.3820G>A p.V1274M missense 0.00000825
404. 112461080 c.2963C>T p.T988I missense 0.00000825
405. 112441563 c.4567G>A p.V1523I missense 0.00000825
406. 112469520 c.2171T>G p.L724R missense 0.00000825
407. 112443364 c.4307C>T p.A1436V missense 0.00000825
408. 112435905 c.5146A>G p.K1716E missense 0.00000825
409. 112480034 c.1696C>T p.Q566X nonsense 0.00000825
410. 112435336 c.5248C>T p.P1750S missense 0.00000825
411. 112440387 c.4772C>G p.A1591G missense 0.00000825
412. 112462112 c.2805T>A p.H935Q missense 0.00000825
413. 112528277 c.367A>G p.R123G missense 0.00000825
414. 112430768 c.5323C>G p.R1775G missense 0.00000825
415. 112457434 c.3284T>C p.M1095T missense 0.00000825
416. 112493940 c.1403T>C p.L468P missense 0.00000825
417. 112430729 c.5362C>T p.H1788Y missense 0.00000825
418. 112469538 c.2153G>C p.G718A missense 0.00000825
419. 112441550 c.4580A>G p.N1527S missense 0.00000825
420. 112466073 c.2395C>G p.R799G missense 0.00000825
421. 112469515 c.2176C>T p.Q726X nonsense 0.00000825
422. 112435938 c.5113G>A p.G1705S missense 0.00000825
423. 112528309 c.335A>G p.K112R missense 0.00000825
424. 112528324 c.320G>A p.G107E missense 0.00000825
425. 112462096 c.2821A>G p.T941A missense 0.00000825
426. 112480015 c.1715T>C p.L572P missense 0.00000825
427. 112452303 c.3814_3817delTCAG p.Ser1272ThrfsTer16 frameshift 0.00000825
428. 112466073 c.2395C>T p.R799X nonsense 0.00000825
429. 112435296 c.5288T>G p.F1763C missense 0.00000825
430. 112430758 c.5333C>A p.P1778H missense 0.00000825
431. 112457429 c.3289A>C p.N1097H missense 0.00000825
432. 112430716 c.5375dupA p.Asp1792GlufsTer9 frameshift 0.00000825
433. 112430687 c.5404G>A p.A1802T missense 0.00000825
434. 112435913 c.5138T>A p.V1713D missense 0.00000825
435. 112440499 c.4660G>A p.E1554K missense 0.00000825
436. 112462664 c.2688T>G p.N896K missense 0.00000825
437. 112462113 c.2804A>G p.H935R missense 0.00000825
438. 112499328 c.1163T>C p.I388T missense 0.00000825
439. 112435338 c.5246G>A p.G1749E missense 0.00000825
440. 112528298 c.346G>A p.G116S missense 0.00000825
441. 112462040 c.2877T>G p.F959L missense 0.00000825
442. 112441552 c.4578T>A p.F1526L missense 0.00000825
443. 112430731 c.5360G>A p.R1787H missense 0.00000825
444. 112457407 c.3311A>G p.Y1104C missense 0.00000825
445. 112499385 c.1106A>G p.D369G missense 0.00000825
446. 112469517 c.2174G>A p.G725E missense 0.00000825
447. 112537642 c.224T>C p.L75P missense 0.00000825
448. 112528336 c.308G>T p.R103L missense 0.00000825
449. 112480017 c.1713C>A p.N571K missense 0.00000825
450. 112438959 c.4943delG p.Gly1648GlufsTer6 frameshift 0.00000824
451. 112463474 c.2493T>G p.F831L missense 0.00000824
452. 112508770 c.827C>G p.A276G missense 0.00000824
453. 112471790 c.2075G>A p.G692D missense 0.00000824
454. 112461002 c.3041T>A p.F1014Y missense 0.00000824
455. 112437116 c.5041G>A p.G1681S missense 0.00000824
456. 112461014 c.3029G>A p.S1010N missense 0.00000824
457. 112499364 c.1127A>G p.Q376R missense 0.00000824
458. 112437127 c.5030C>T p.T1677I missense 0.00000824
459. 112476828 c.1877A>G p.Y626C missense 0.00000824
460. 112493820 c.1523A>T p.D508V missense 0.00000824
461. 112486432 c.1577C>A p.S526Y missense 0.00000824
462. 112522841 c.471dupT p.Asn158Ter frameshift 0.00000824
463. 112469481 c.2210C>A p.T737K missense 0.00000824
464. 112460483 c.3100G>T p.A1034S missense 0.00000824
465. 112496631 c.1220A>G p.K407R missense 0.00000824
466. 112508671 c.926C>T p.A309V missense 0.00000824
467. 112476083 c.2005G>T p.A669S missense 0.00000824
468. 112537598 c.268G>A p.E90K missense 0.00000824
469. 112440411 c.4748G>A p.G1583D missense 0.00000824
470. 112454643 c.3583A>G p.M1195V missense 0.00000824
471. 112469448 c.2243dupT p.Met748IlefsTer16 frameshift 0.00000824
472. 112443286 c.4385C>G p.A1462G missense 0.00000824
473. 112469379 c.2312T>C p.V771A missense 0.00000824
474. 112471779 c.2086G>A p.A696T missense 0.00000824
475. 112460429 c.3154G>C p.V1052L missense 0.00000824
476. 112460332 c.3251T>C p.M1084T missense 0.00000824
477. 112439029 c.4873T>C p.S1625P missense 0.00000824
478. 112462080 c.2837G>A p.S946N missense 0.00000824
479. 112506479 c.1016T>C p.M339T missense 0.00000824
480. 112479988 c.1742A>G p.Q581R missense 0.00000824
481. 112440445 c.4714C>T p.L1572F missense 0.00000824
482. 112463428 c.2539G>A p.D847N missense 0.00000824
483. 112508746 c.851T>C p.I284T missense 0.00000824
484. 112493905 c.1438G>C p.D480H missense 0.00000824
485. 112486450 c.1559T>C p.M520T missense 0.00000824
486. 112522851 c.461G>A p.R154Q missense 0.00000824
487. 112437068 c.5089C>T p.Q1697X nonsense 0.00000824
488. 112460973 c.3070A>G p.T1024A missense 0.00000824
489. 112476787 c.1918A>G p.T640A missense 0.00000824
490. 112479972 c.1758T>G p.H586Q missense 0.00000824
491. 112476114 c.1974T>G p.H658Q missense 0.00000824
492. 112440474 c.4685T>C p.I1562T missense 0.00000824
493. 112462620 c.2732C>T p.P911L missense 0.00000824
494. 112506534 c.961A>G p.R321G missense 0.00000824
495. 112486412 c.1597T>C p.S533P missense 0.00000824
496. 112461018 c.3025A>C p.I1009L missense 0.00000824
497. 112469446 c.2245G>C p.A749P missense 0.00000824
498. 112460462 c.3121G>T p.A1041S missense 0.00000824
499. 112496596 c.1255A>T p.M419L missense 0.00000824
500. 112460413 c.3170C>A p.T1057K missense 0.00000824
501. 112506498 c.997A>C p.N333H missense 0.00000824
502. 112454554 c.3672_3675delACTT p.Leu1225TyrfsTer63 frameshift 0.00000824
503. 112506451 c.1044A>T p.E348D missense 0.00000824
504. 112479952 c.1778A>C p.E593A missense 0.00000824
505. 112438975 c.4927delT p.Tyr1643ThrfsTer11 frameshift 0.00000824
506. 112438986 c.4916A>G p.E1639G missense 0.00000824
507. 112496521 c.1330T>A p.Y444N missense 0.00000824
508. 112471797 c.2068C>T p.R690C missense 0.00000824
509. 112438965 c.4937C>T p.T1646I missense 0.00000824
510. 112493824 c.1519C>T p.R507W missense 0.00000824
511. 112476842 c.1863A>C p.E621D missense 0.00000824
512. 112499372 c.1119C>A p.H373Q missense 0.00000824
513. 112476829 c.1876T>C p.Y626H missense 0.00000824
514. 112508743 c.854A>T p.E285V missense 0.00000824
515. 112508672 c.925G>A p.A309T missense 0.00000824
516. 112486432 c.1577C>T p.S526F missense 0.00000824
517. 112460489 c.3094A>C p.K1032Q missense 0.00000824
518. 112496659 c.1192T>C p.Y398H missense 0.00000824
519. 112469481 c.2210C>T p.T737M missense 0.00000824
520. 112476119 c.1969T>A p.Y657N missense 0.00000824
521. 112460438 c.3145G>C p.G1049R missense 0.00000824
522. 112496559 c.1292C>G p.T431S missense 0.00000824
523. 112476083 c.2005G>A p.A669T missense 0.00000824
524. 112537600 c.266A>G p.N89S missense 0.00000824
525. 112440438 c.4721C>T p.P1574L missense 0.00000824
526. 112462596 c.2756C>T p.S919F missense 0.00000824
527. 112506519 c.976G>T p.A326S missense 0.00000824
528. 112443321 c.4350C>A p.C1450X nonsense 0.00000824
529. 112469426 c.2265G>T p.W755C missense 0.00000824
530. 112469512 c.2179T>C p.S727P missense 0.00000824
531. 112460359 c.3224C>T p.P1075L missense 0.00000824
532. 112471807 c.2058C>A p.D686E missense 0.00000824
533. 112462093 c.2824G>C p.V942L missense 0.00000824
534. 112506482 c.1013C>A p.T338K missense 0.00000824
535. 112471749 c.2116A>G p.S706G missense 0.00000824
536. 112460356 c.3227C>A p.A1076D missense 0.00000824
537. 112463437 c.2530A>G p.S844G missense 0.00000824
538. 112508750 c.847T>C p.S283P missense 0.00000824
539. 112493907 c.1436C>A p.S479X nonsense 0.00000824
540. 112463374 c.2593C>T p.P865S missense 0.00000824
541. 112460366 c.3217C>T p.R1073X nonsense 0.00000824
542. 112486457 c.1552G>A p.E518K missense 0.00000824
543. 112522857 c.455C>T p.A152V missense 0.00000824
544. 112437085 c.5072T>C p.V1691A missense 0.00000824
545. 112460982 c.3061G>A p.D1021N missense 0.00000824
546. 112499354 c.1137G>T p.E379D missense 0.00000824
547. 112476807 c.1898C>T p.T633I missense 0.00000824
548. 112460465 c.3118G>A p.A1040T missense 0.00000824
549. 112476115 c.1973A>C p.H658P missense 0.00000824
550. 112440475 c.4684A>T p.I1562F missense 0.00000824
551. 112462638 c.2714C>T p.T905I missense 0.00000824
552. 112506536 c.959A>G p.E320G missense 0.00000824
553. 112522807 c.503+2T>C essential splice site 0.00000824
554. 112454688 c.3538G>A p.A1180T missense 0.00000824
555. 112486417 c.1592C>T p.A531V missense 0.00000824
556. 112469446 c.2245G>A p.A749T missense 0.00000824
557. 112454580 c.3646G>A p.V1216I missense 0.00000824
558. 112460321 c.3261+1G>T essential splice site 0.00000824
559. 112469410 c.2281C>T p.H761Y missense 0.00000824
560. 112460416 c.3167T>C p.I1056T missense 0.00000824
561. 112476075 c.2013A>C p.E671D missense 0.00000824
562. 112537579 c.287G>A p.G96E missense 0.00000824
563. 112506498 c.997A>G p.N333D missense 0.00000824
564. 112486471 c.1538A>G p.Q513R missense 0.00000824
565. 112471798 c.2067G>T p.R689S missense 0.00000824
566. 112438977 c.4925C>A p.T1642N missense 0.00000824
567. 112506454 c.1041G>C p.E347D missense 0.00000824
568. 112463461 c.2506G>C p.A836P missense 0.00000824
569. 112496545 c.1306G>A p.V436M missense 0.00000824
570. 112463394 c.2573T>C p.M858T missense 0.00000824
571. 112440438 c.4721C>G p.P1574R missense 0.00000824
572. 112493835 c.1508C>T p.A503V missense 0.00000824
573. 112461021 c.3022G>A p.V1008M missense 0.00000824
574. 112499379 c.1112T>C p.I371T missense 0.00000824
575. 112476837 c.1868T>C p.I623T missense 0.00000824
576. 112496661 c.1190A>G p.Y397C missense 0.00000824
577. 112476778 c.1927C>T p.R643X nonsense 0.00000824
578. 112469449 c.2242A>C p.M748L missense 0.00000824
579. 112486445 c.1564G>A p.V522M missense 0.00000824
580. 112522814 c.498T>A p.C166X nonsense 0.00000824
581. 112460954 c.3089G>C p.R1030P missense 0.00000824
582. 112506521 c.974_975insA p.Tyr325Ter frameshift 0.00000824
583. 112460491 c.3092A>G p.D1031G missense 0.00000824
584. 112469439 c.2252A>G p.N751S missense 0.00000824
585. 112476094 c.1994T>G p.L665R missense 0.00000824
586. 112537619 c.247G>C p.D83H missense 0.00000824
587. 112440454 c.4705G>C p.E1569Q missense 0.00000824
588. 112506528 c.967A>T p.N323Y missense 0.00000824
589. 112454670 c.3556C>A p.P1186T missense 0.00000824
590. 112471718 c.2147A>G p.E716G missense 0.00000824
591. 112463420 c.2547G>C p.K849N missense 0.00000824
592. 112476061 c.2027C>A p.A676E missense 0.00000824
593. 112471788 c.2077G>A p.G693R missense 0.00000824
594. 112438948 c.4954G>T p.V1652F missense 0.00000824
595. 112463445 c.2522C>T p.S841L missense 0.00000824
596. 112508750 c.847T>G p.S283A missense 0.00000824
597. 112476826 c.1879G>A p.V627I missense 0.00000824
598. 112508705 c.892G>A p.A298T missense 0.00000824
599. 112486469 c.1540G>C p.E514Q missense 0.00000824
600. 112437112 c.5045A>T p.H1682L missense 0.00000824
601. 112499363 c.1128G>C p.Q376H missense 0.00000824
602. 112469461 c.2230G>A p.A744T missense 0.00000824
603. 112460467 c.3116G>A p.R1039Q missense 0.00000824
604. 112496630 c.1221G>T p.K407N missense 0.00000824
605. 112476142 c.1946G>A p.S649N missense 0.00000824
606. 112461038 c.3005C>A p.A1002D missense 0.00000824
607. 112506537 c.958G>A p.E320K missense 0.00000824
608. 112440399 c.4760T>C p.L1587S missense 0.00000824
609. 112506518 c.977C>T p.A326V missense 0.00000824
610. 112454583 c.3643G>A p.G1215R missense 0.00000824
611. 112469401 c.2290delT p.Ser764LeufsTer8 frameshift 0.00000824
612. 112443246 c.4425T>G p.F1475L missense 0.00000824
613. 112496517 c.1334A>G p.E445G missense 0.00000824
614. 112476082 c.2006C>A p.A669D missense 0.00000824
615. 112537597 c.269A>G p.E90G missense 0.00000824
616. 112460330 c.3253G>A p.V1085I missense 0.00000824
617. 112471799 c.2066G>C p.R689T missense 0.00000824
618. 112438996 c.4906G>A p.G1636S missense 0.00000824
619. 112479982 c.1748C>G p.A583G missense 0.00000824
620. 112440394 c.4765G>A p.G1589S missense 0.00000824
621. 112508745 c.852C>G p.I284M missense 0.00000824
622. 112493857 c.1486G>A p.E496K missense 0.00000824
623. 112471716 c.2149A>G p.R717G missense 0.00000824
624. 112461045 c.2998G>C p.E1000Q missense 0.00000824
625. 112443226 c.4445T>C p.F1482S missense 0.00000824
626. 112522837 c.475G>A p.E159K missense 0.00000824
627. 112460955 c.3088C>T p.R1030X nonsense 0.00000824
628. 112499341 c.1150A>G p.M384V missense 0.00000824
629. 112486436 c.1573_1574delAT p.M525Vfs*20 frameshift 0.00000824
630. 112476892 c.1813G>A p.D605N missense 0.00000824
631. 112508692 c.905G>A p.R302K missense 0.00000824
632. 112486448 c.1561G>A p.E521K missense 0.00000824
633. 112506530 c.965A>G p.E322G missense 0.00000824
634. 112454673 c.3553C>A p.L1185I missense 0.00000824
635. 112486399 c.1610C>G p.P537R missense 0.00000824
636. 112460990 c.3053A>G p.Y1018C missense 0.00000824
637. 112469441 c.2250C>G p.N750K missense 0.00000824
638. 112460443 c.3140G>A p.G1047D missense 0.00000824
639. 112476107 c.1981G>A p.E661K missense 0.00000824
640. 112462611 c.2741C>A p.S914Y missense 0.00000824
641. 112476062 c.2026G>C p.A676P missense 0.00000824
642. 112506494 c.1001A>G p.N334S missense 0.00000824
643. 112471752 c.2113C>T p.L705F missense 0.00000824
644. 112460391 c.3192G>T p.Q1064H 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.