LAMA4 variants in ExAC


The table below lists the LAMA4 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 frequencyPopulations*
1. 112508770 c.827C>A p.A276E missense 0.99999176
2. 112457390 c.3328G>A p.G1110S missense 0.76914509
3. 112493872 c.1471T>C p.Y491H missense 0.66491939
4. 112435273 c.5305+6T>G splice site 0.23923374
5. 112457383 c.3335C>G p.P1112R missense 0.22490261
6. 112522852 c.460C>T p.R154W missense 0.05307488
7. 112496511 c.1336+4G>T splice site 0.03149717
8. 112522893 c.423-4T>G splice site 0.01335667
9. 112460365 c.3218G>A p.R1073Q missense 0.00999143
10. 112496690 c.1169-8C>G splice site 0.00961665
11. 112537586 c.280G>A p.G94S missense 0.00555601
12. 112430669 c.5422G>A p.V1808I missense 0.00522271
13. 112441505 c.4625A>G p.N1542S missense 0.00486560
14. 112522899 c.423-10C>T splice site 0.00461495
15. 112493889 c.1454T>A p.L485H missense 0.00276093
16. 112486397 c.1612C>T p.R538C missense 0.00161471
17. 112575268 c.85G>C p.D29H missense 0.00157228
18. 112512915 c.641G>A p.R214H missense 0.00133093
19. 112462563 c.2789A>G p.E930G missense 0.00119434
20. 112452195 c.3922G>A p.V1308I missense 0.00117257
21. 112476110 c.1978G>T p.D660Y missense 0.00114537
22. 112460429 c.3154G>A p.V1052M missense 0.00111201
23. 112476767 c.1938T>C p.D646D splice site 0.00103001
24. 112471715 c.2150G>A p.R717K missense 0.00083192
25. 112476121 c.1967T>C p.I656T missense 0.00071702
26. 112430662 c.5429T>C p.I1810T missense 0.00063644
27. 112508755 c.842C>G p.A281G missense 0.00063501
28. 112461010 c.3033G>T p.L1011F missense 0.00053564
29. 112439104 c.4801-3C>T splice site 0.00050451
30. 112463374 c.2593C>G p.P865A missense 0.00048604
31. 112528271 c.373G>T p.A125S missense 0.00047872
32. 112435335 c.5249C>T p.P1750L missense 0.00044536
33. 112537679 c.196-9C>T splice site 0.00044286
34. 112512882 c.674C>T p.A225V missense 0.00043967
35. 112437149 c.5008C>T p.R1670C missense 0.00043685
36. 112441478 c.4644+8G>T splice site 0.00035587
37. 112537561 c.297+8G>A splice site 0.00032998
38. 112508794 c.803A>G p.K268R missense 0.00032926
39. 112476147 c.1941G>A p.A647A splice site 0.00026388
40. 112575186 c.167C>T p.A56V missense 0.00023906
41. 112461988 c.2929G>A p.V977I missense 0.00023161
42. 112493805 c.1530+8G>A splice site 0.00023092
43. 112513042 c.514G>A p.G172S missense 0.00022479
44. 112471740 c.2125G>A p.V709I missense 0.00022239
45. 112575268 c.85G>A p.D29N missense 0.00021637
46. 0 c.2956-12delT splice site 0.00021476
47. 112440489 c.4670G>T p.S1557I missense 0.00021440
48. 112479974 c.1756C>T p.H586Y missense 0.00021431
49. 112430768 c.5323C>T p.R1775C missense 0.00019793
50. 112480089 c.1648-7delT splice site 0.00019425
51. 112457432 c.3286C>T p.R1096C missense 0.00018985
52. 112512888 c.668G>A p.R223H missense 0.00018235
53. 112440388 c.4771G>T p.A1591S missense 0.00017315
54. 112510396 c.730G>C p.G244R missense 0.00016580
55. 112457459 c.3262-3C>G splice site 0.00016515
56. 112528337 c.307C>T p.R103W missense 0.00016500
57. 112451123 c.4067A>G p.Q1356R missense 0.00015891
58. 112575231 c.122C>T p.A41V missense 0.00015442
59. 112460954 c.3089G>A p.R1030Q missense 0.00014828
60. 112454047 c.3721A>G p.I1241V missense 0.00014039
61. 112508717 c.880G>A p.V294I missense 0.00013187
62. 112486369 c.1640T>C p.I547T missense 0.00013181
63. 112537568 c.297+1G>T essential splice site 0.00011545
64. 112438959 c.4943G>A p.G1648E missense 0.00011536
65. 112441658 c.4472G>A p.R1491H missense 0.00010860
66. 112441506 c.4624A>T p.N1542Y missense 0.00010739
67. 112454696 c.3537-7T>C splice site 0.00010717
68. 112486353 c.1647+9G>A splice site 0.00010710
69. 112430668 c.5423dupT p.Ser1809LysfsTer11 frameshift 0.00009916
70. 112450240 c.4150T>C p.Y1384H missense 0.00009908
71. 112462026 c.2891C>T p.S964F missense 0.00009900
72. 112437148 c.5009G>A p.R1670H missense 0.00009890
73. 112443256 c.4415G>A p.R1472H missense 0.00009889
74. 112506519 c.976G>A p.A326T missense 0.00009885
75. 112486354 c.1647+8C>T splice site 0.00009062
76. 112486426 c.1583G>A p.S528N missense 0.00009062
77. 112496595 c.1256T>C p.M419T missense 0.00009060
78. 112575286 c.67C>T p.R23C missense 0.00008823
79. 112575246 c.107T>C p.I36T missense 0.00008804
80. 112466091 c.2377C>T p.R793C missense 0.00008269
81. 112528252 c.392C>T p.P131L missense 0.00008257
82. 112450212 c.4178A>G p.Y1393C missense 0.00008256
83. 112493944 c.1399G>A p.V467I missense 0.00008254
84. 112493809 c.1530+4C>T splice site 0.00008246
85. 112440462 c.4697G>A p.R1566Q missense 0.00008242
86. 112454586 c.3640C>G p.L1214V missense 0.00008241
87. 112457428 c.3290A>G p.N1097S missense 0.00007428
88. 112493927 c.1416_1421dupTGACTA p.Asp473_Tyr474dup inframe 0.00007422
89. 112508719 c.878G>A p.S293N missense 0.00007417
90. 112443287 c.4384G>A p.A1462T missense 0.00007416
91. 112461009 c.3034T>C p.Y1012H missense 0.00007416
92. 112463419 c.2548G>A p.A850T missense 0.00007415
93. 112575241 c.112G>A p.G38R missense 0.00007314
94. 112480078 c.1652C>T p.A551V missense 0.00006988
95. 112512883 c.673G>C p.A225P missense 0.00006636
96. 112455789 c.3416A>G p.D1139G missense 0.00006612
97. 112508744 c.853G>A p.E285K missense 0.00006595
98. 112522809 c.503G>A p.R168K missense 0.00006591
99. 112463376 c.2591G>A p.R864Q missense 0.00006591
100. 112463368 c.2599C>G p.L867V missense 0.00006591
101. 112463377 c.2590C>T p.R864W missense 0.00006590
102. 112496574 c.1277G>A p.R426H missense 0.00006589
103. 112575190 c.163G>T p.V55L missense 0.00006076
104. 112513035 c.521A>G p.Y174C missense 0.00005971
105. 112453972 c.3796T>C p.F1266L missense 0.00005821
106. 112512978 c.578C>T p.S193L missense 0.00005801
107. 112537612 c.254A>G p.N85S missense 0.00005770
108. 112460485 c.3098T>G p.L1033R missense 0.00005769
109. 112508690 c.907C>G p.H303D missense 0.00005768
110. 112486463 c.1546G>T p.V516L missense 0.00005767
111. 112575165 c.188C>T p.A63V missense 0.00005520
112. 112508789 c.808G>A p.V270I missense 0.00005141
113. 112454085 c.3683G>A p.R1228H missense 0.00004956
114. 112457431 c.3287G>A p.R1096H missense 0.00004953
115. 112528274 c.370G>C p.G124R missense 0.00004952
116. 112528337 c.307C>G p.R103G missense 0.00004950
117. 112469523 c.2168G>A p.R723H missense 0.00004948
118. 112454673 c.3553C>T p.L1185F missense 0.00004946
119. 112493823 c.1520G>A p.R507Q missense 0.00004946
120. 112438956 c.4946G>T p.G1649V missense 0.00004944
121. 112476868 c.1837G>A p.A613T missense 0.00004943
122. 112463389 c.2578C>A p.P860T missense 0.00004943
123. 112496560 c.1291A>G p.T431A missense 0.00004942
124. 112510411 c.719-4A>G splice site 0.00004177
125. 112493979 c.1364G>A p.R455Q missense 0.00004155
126. 112493974 c.1369C>G p.H457D missense 0.00004154
127. 112441646 c.4484G>A p.R1495H missense 0.00004153
128. 112450120 c.4266+4A>G splice site 0.00004140
129. 112439053 c.4849A>C p.N1617H missense 0.00004129
130. 112499315 c.1168+8T>C splice site 0.00004127
131. 112528289 c.355G>A p.G119R missense 0.00004126
132. 112457417 c.3301C>T p.H1101Y missense 0.00004126
133. 112443346 c.4325G>A p.R1442Q missense 0.00004123
134. 112430767 c.5324G>A p.R1775H missense 0.00004123
135. 112435279 c.5305G>A p.E1769K missense 0.00004123
136. 112440483 c.4676G>A p.R1559Q missense 0.00004122
137. 112440465 c.4694T>G p.L1565R missense 0.00004121
138. 112461021 c.3022G>C p.V1008L missense 0.00004120
139. 112438951 c.4951G>A p.V1651M missense 0.00004120
140. 112493842 c.1501G>A p.A501T missense 0.00004120
141. 112476883 c.1822G>A p.G608R missense 0.00004120
142. 112506459 c.1036G>A p.V346I missense 0.00004119
143. 112508805 c.794-2A>C essential splice site 0.00003578
144. 112575248 c.105C>G p.D35E missense 0.00003497
145. 112512832 c.718+6G>T splice site 0.00003405
146. 112575162 c.191C>T p.A64V missense 0.00003391
147. 112512984 c.572G>A p.G191E missense 0.00003318
148. 112450276 c.4114G>A p.V1372M missense 0.00003311
149. 112512916 c.640C>T p.R214C missense 0.00003306
150. 112450156 c.4234T>G p.L1412V missense 0.00003306
151. 112512925 c.631A>C p.N211H missense 0.00003306
152. 112466087 c.2381C>T p.T794M missense 0.00003306
153. 112441499 c.4631G>A p.G1544D missense 0.00003305
154. 112493953 c.1390T>C p.F464L missense 0.00003304
155. 112455708 c.3497T>C p.I1166T missense 0.00003304
156. 112430675 c.5416G>A p.G1806S missense 0.00003304
157. 112450188 c.4202C>T p.P1401L missense 0.00003303
158. 112441569 c.4561C>T p.R1521C missense 0.00003303
159. 112452190 c.3927T>G p.I1309M missense 0.00003303
160. 112440501 c.4658G>A p.R1553Q missense 0.00003301
161. 112528301 c.343G>C p.D115H missense 0.00003300
162. 112476152 c.1939-3T>C splice site 0.00003299
163. 112469497 c.2194G>A p.E732K missense 0.00003298
164. 112466040 c.2428A>T p.R810W missense 0.00003298
165. 112479973 c.1757A>G p.H586R missense 0.00003297
166. 112499371 c.1120G>A p.A374T missense 0.00003297
167. 112454653 c.3573C>A p.F1191L missense 0.00003297
168. 112469487 c.2204A>G p.N735S missense 0.00003297
169. 112454543 c.3675+8C>T splice site 0.00003297
170. 112476055 c.2033C>T p.S678F missense 0.00003296
171. 112476094 c.1994T>C p.L665P missense 0.00003296
172. 112493861 c.1482T>A p.D494E missense 0.00003296
173. 112463385 c.2582C>G p.P861R missense 0.00003295
174. 112506434 c.1056+5G>A splice site 0.00003295
175. 112460348 c.3235G>A p.G1079S missense 0.00003295
176. 112486396 c.1613G>A p.R538H missense 0.00003295
177. 112462603 c.2749G>A p.V917I missense 0.00003295
178. 112496554 c.1297C>T p.R433W missense 0.00003295
179. 112463362 c.2605G>A p.E869K missense 0.00003295
180. 112496597 c.1254G>T p.K418N missense 0.00003295
181. 112451077 c.4112+1G>C essential splice site 0.00002960
182. 112575331 c.22C>T p.R8C missense 0.00002797
183. 112441679 c.4455-4C>A splice site 0.00002582
184. 112453955 c.3813G>A p.G1271G splice site 0.00002515
185. 112453956 c.3812G>T p.G1271V missense 0.00002513
186. 112513009 c.547A>G p.T183A missense 0.00002502
187. 112443407 c.4267-3T>C splice site 0.00002496
188. 112512883 c.673G>A p.A225T missense 0.00002488
189. 112453998 c.3770G>A p.R1257Q missense 0.00002486
190. 112450137 c.4253G>A p.S1418N missense 0.00002482
191. 112493962 c.1381C>T p.R461C missense 0.00002482
192. 112510336 c.790A>G p.T264A missense 0.00002481
193. 112455790 c.3415G>A p.D1139N missense 0.00002480
194. 112450157 c.4233T>A p.N1411K missense 0.00002479
195. 112435865 c.5185+1G>A essential splice site 0.00002478
196. 112457455 c.3263G>T p.S1088I missense 0.00002477
197. 112441568 c.4562G>A p.R1521H missense 0.00002477
198. 112450213 c.4177T>A p.Y1393N missense 0.00002477
199. 112510369 c.757G>A p.G253R missense 0.00002477
200. 112441535 c.4595A>T p.K1532I missense 0.00002477
201. 112528275 c.369G>T p.R123S missense 0.00002476
202. 112457422 c.3296A>G p.Y1099C missense 0.00002476
203. 112537651 c.215T>C p.F72S missense 0.00002476
204. 112440504 c.4655T>C p.I1552T missense 0.00002476
205. 112450228 c.4162G>A p.V1388I missense 0.00002476
206. 112537645 c.221C>A p.T74N missense 0.00002475
207. 112435347 c.5237A>G p.H1746R missense 0.00002475
208. 112430719 c.5372T>C p.I1791T missense 0.00002475
209. 112462098 c.2819T>C p.L940S missense 0.00002474
210. 112462089 c.2828C>T p.P943L missense 0.00002474
211. 112463323 c.2644A>C p.N882H missense 0.00002474
212. 112439043 c.4859C>T p.S1620F missense 0.00002474
213. 112493806 c.1530+7C>T splice site 0.00002474
214. 112437176 c.4981T>G p.L1661V missense 0.00002474
215. 112439040 c.4862T>G p.I1621S missense 0.00002474
216. 112479980 c.1750A>G p.I584V missense 0.00002473
217. 112479938 c.1792A>G p.S598G missense 0.00002473
218. 112479963 c.1767C>A p.D589E missense 0.00002473
219. 112476916 c.1797-8A>G splice site 0.00002473
220. 112476889 c.1816A>G p.M606V missense 0.00002472
221. 112476891 c.1814A>T p.D605V missense 0.00002472
222. 112476852 c.1853A>G p.N618S missense 0.00002472
223. 112469404 c.2287G>T p.D763Y missense 0.00002472
224. 112486379 c.1630C>T p.L544F missense 0.00002472
225. 112476853 c.1852A>G p.N618D missense 0.00002472
226. 112476777 c.1928G>A p.R643Q missense 0.00002472
227. 112508708 c.889G>A p.G297R missense 0.00002472
228. 112440456 c.4703T>C p.L1568P missense 0.00002472
229. 112471745 c.2120A>G p.D707G missense 0.00002471
230. 112471796 c.2069G>A p.R690H missense 0.00002471
231. 112486482 c.1531-4G>A splice site 0.00002471
232. 112463393 c.2574G>T p.M858I missense 0.00002471
233. 112575200 c.153C>A p.S51R missense 0.00002045
234. 112575193 c.160C>T p.R54C missense 0.00002023
235. 112575181 c.172G>A p.G58R missense 0.00001950
236. 112575313 c.40T>C p.W14R missense 0.00001916
237. 112513054 c.504-2A>G essential splice site 0.00001832
238. 112494013 c.1337-7T>C splice site 0.00001755
239. 112494000 c.1343G>T p.S448I missense 0.00001698
240. 112513026 c.530C>G p.P177R missense 0.00001683
241. 112451152 c.4038T>A p.F1346L missense 0.00001672
242. 112462713 c.2647-8T>C splice site 0.00001670
243. 112512862 c.694G>A p.A232T missense 0.00001667
244. 112512862 c.694G>T p.A232S missense 0.00001667
245. 112510406 c.720G>A splice site 0.00001665
246. 112453970 c.3798C>A p.F1266L missense 0.00001664
247. 112512870 c.686A>C p.Y229S missense 0.00001662
248. 112443400 c.4271G>A p.G1424E missense 0.00001659
249. 112537664 c.202A>G p.N68D missense 0.00001657
250. 112512904 c.652G>A p.G218R missense 0.00001656
251. 112537663 c.203A>G p.N68S missense 0.00001655
252. 112510389 c.737G>C p.G246A missense 0.00001654
253. 112512951 c.605G>A p.C202Y missense 0.00001654
254. 112510389 c.737G>A p.G246D missense 0.00001654
255. 112461987 c.2930T>C p.V977A missense 0.00001654
256. 112528225 c.419C>T p.A140V missense 0.00001654
257. 112466090 c.2378G>A p.R793H missense 0.00001653
258. 112439066 c.4836C>A p.S1612R missense 0.00001653
259. 112439067 c.4835G>T p.S1612I missense 0.00001653
260. 112455720 c.3485C>T p.P1162L missense 0.00001652
261. 112437199 c.4961-3delC splice site 0.00001652
262. 112454092 c.3676A>G p.I1226V missense 0.00001652
263. 112455663 c.3536+6G>A splice site 0.00001652
264. 112441502 c.4628A>G p.D1543G missense 0.00001652
265. 112510353 c.773_775delAAG p.Glu258del inframe 0.00001652
266. 112537655 c.211T>A p.F71I missense 0.00001652
267. 112455684 c.3521A>G p.E1174G missense 0.00001652
268. 112457333 c.3385T>C p.Y1129H missense 0.00001651
269. 112493941 c.1402C>G p.L468V missense 0.00001651
270. 112443383 c.4288C>T p.P1430S missense 0.00001651
271. 112437190 c.4967C>T p.S1656F missense 0.00001651
272. 112452217 c.3900C>A p.Y1300X nonsense 0.00001651
273. 112441568 c.4562G>T p.R1521L missense 0.00001651
274. 112450243 c.4147C>T p.R1383W missense 0.00001651
275. 112441579 c.4551G>C p.L1517F missense 0.00001651
276. 112454067 c.3701G>A p.G1234E missense 0.00001651
277. 112435886 c.5165G>A p.G1722D missense 0.00001651
278. 112457432 c.3286C>A p.R1096S missense 0.00001651
279. 112457383 c.3335C>A p.P1112H missense 0.00001651
280. 112450242 c.4148G>T p.R1383L missense 0.00001651
281. 112435934 c.5117T>C p.I1706T missense 0.00001651
282. 112435273 c.5305+6T>C splice site 0.00001650
283. 112462106 c.2811G>T p.K937N missense 0.00001650
284. 112508765 c.832C>T p.R278W missense 0.00001650
285. 112462038 c.2879C>T p.S960L missense 0.00001650
286. 112457365 c.3353C>T p.T1118M missense 0.00001650
287. 112466039 c.2429G>T p.R810M missense 0.00001649
288. 112430771 c.5320C>T p.P1774S missense 0.00001649
289. 112537619 c.247G>A p.D83N missense 0.00001649
290. 112435303 c.5281C>A p.P1761T missense 0.00001649
291. 112454684 c.3542T>G p.L1181R missense 0.00001649
292. 112463321 c.2646C>T p.N882N splice site 0.00001649
293. 112466024 c.2444T>C p.I815T missense 0.00001649
294. 112522864 c.448A>T p.N150Y missense 0.00001649
295. 112469509 c.2182A>G p.R728G missense 0.00001649
296. 112443347 c.4324C>T p.R1442W missense 0.00001649
297. 112443370 c.4301C>T p.P1434L missense 0.00001649
298. 112462654 c.2698G>A p.V900I missense 0.00001649
299. 112463500 c.2473-6C>T splice site 0.00001649
300. 112435321 c.5263C>T p.P1755S missense 0.00001649
301. 112508729 c.868G>A p.G290R missense 0.00001649
302. 112479943 c.1787A>T p.E596V missense 0.00001649
303. 112430735 c.5356A>G p.I1786V missense 0.00001649
304. 112499346 c.1145A>G p.H382R missense 0.00001649
305. 112435287 c.5297G>A p.G1766D missense 0.00001649
306. 112493909 c.1434G>T p.L478F missense 0.00001649
307. 112466025 c.2443A>G p.I815V missense 0.00001649
308. 112466034 c.2434C>T p.R812X nonsense 0.00001649
309. 112469524 c.2167C>T p.R723C missense 0.00001649
310. 112469395 c.2296G>A p.A766T missense 0.00001648
311. 112462591 c.2761C>A p.P921T missense 0.00001648
312. 112508699 c.898G>A p.A300T missense 0.00001648
313. 112508666 c.931A>G p.I311V missense 0.00001648
314. 112476780 c.1925A>G p.D642G missense 0.00001648
315. 112463412 c.2555C>T p.T852M missense 0.00001648
316. 112460441 c.3142T>C p.S1048P missense 0.00001648
317. 112537605 c.261_262dupTT p.Ser88PhefsTer111 frameshift 0.00001648
318. 112476764 c.1938+3G>C splice site 0.00001648
319. 112437143 c.5014A>G p.R1672G missense 0.00001648
320. 112471705 c.2152+8T>A splice site 0.00001648
321. 112460327 c.3256A>G p.N1086D missense 0.00001648
322. 112506482 c.1013C>T p.T338M missense 0.00001648
323. 112476073 c.2015T>G p.L672R missense 0.00001648
324. 112461004 c.3039C>G p.N1013K missense 0.00001648
325. 112508702 c.895G>A p.A299T missense 0.00001648
326. 112508696 c.901C>T p.H301Y missense 0.00001648
327. 112463353 c.2614G>C p.D872H missense 0.00001648
328. 112506506 c.989T>C p.I330T missense 0.00001648
329. 112508687 c.910G>A p.V304M missense 0.00001648
330. 112460315 c.3261+7A>G splice site 0.00001648
331. 112496508 c.1336+7G>A splice site 0.00001648
332. 112463373 c.2594C>T p.P865L missense 0.00001648
333. 112437062 c.5091+4G>A splice site 0.00001648
334. 112476859 c.1846G>A p.A616T missense 0.00001648
335. 112508648 c.945+4C>A splice site 0.00001648
336. 112437131 c.5026G>A p.G1676R missense 0.00001648
337. 112440436 c.4723_4725delACT p.Thr1575del inframe 0.00001648
338. 112460383 c.3200G>A p.R1067H missense 0.00001647
339. 112471743 c.2122G>T p.A708S missense 0.00001647
340. 112471806 c.2059A>T p.T687S missense 0.00001647
341. 112496562 c.1289T>C p.F430S missense 0.00001647
342. 112496554 c.1297C>G p.R433G missense 0.00001647
343. 112460417 c.3166A>G p.I1056V missense 0.00001647
344. 112496541 c.1310A>G p.D437G missense 0.00001647
345. 112460438 c.3145G>A p.G1049S missense 0.00001647
346. 112575255 c.98C>T p.P33L missense 0.00001645
347. 112575261 c.92C>T p.A31V missense 0.00001567
348. 112575264 c.89A>G p.N30S missense 0.00001498
349. 112575153 c.195+5A>G splice site 0.00001458
350. 112575286 c.67C>G p.R23G missense 0.00001103
351. 112575290 c.63C>G p.C21W missense 0.00001067
352. 112575331 c.22C>A p.R8S missense 0.00000932
353. 112575342 c.11G>A p.S4N missense 0.00000923
354. 112575345 c.8dupT p.Leu3PhefsTer33 frameshift 0.00000921
355. 112480085 c.1648-3T>C splice site 0.00000912
356. 112480086 c.1648-4T>C splice site 0.00000912
357. 112513052 c.504A>G splice site 0.00000901
358. 112508800 c.797G>A p.C266Y missense 0.00000882
359. 112508786 c.811T>C p.W271R missense 0.00000855
360. 112512833 c.718+5A>G splice site 0.00000850
361. 112508780 c.817C>A p.L273M missense 0.00000848
362. 112513030 c.526A>G p.N176D missense 0.00000845
363. 112441669 c.4461G>T p.Q1487H missense 0.00000844
364. 112461954 c.2955+8A>G splice site 0.00000844
365. 112453952 c.3813+3_3813+6delAAGT splice site 0.00000842
366. 112453950 c.3813+5G>A splice site 0.00000841
367. 112466121 c.2347G>A p.E783K missense 0.00000841
368. 112453954 c.3813+1G>T essential splice site 0.00000839
369. 112451150 c.4040A>G p.Y1347C missense 0.00000838
370. 112499425 c.1066G>A p.A356T missense 0.00000838
371. 112466118 c.2350G>A p.V784I missense 0.00000837
372. 112441659 c.4471C>T p.R1491C missense 0.00000836
373. 112537677 c.196-7G>A splice site 0.00000835
374. 112512857 c.699G>T p.R233S missense 0.00000835
375. 112451154 c.4036T>A p.F1346I missense 0.00000835
376. 112453962 c.3806C>T p.A1269V missense 0.00000835
377. 112510408 c.719-1G>A essential splice site 0.00000834
378. 112453965 c.3803A>C p.Y1268S missense 0.00000834
379. 112480066 c.1664A>T p.Y555F missense 0.00000833
380. 112499421 c.1070C>T p.S357F missense 0.00000833
381. 112462711 c.2647-6T>C splice site 0.00000833
382. 112451160 c.4030A>G p.K1344E missense 0.00000832
383. 112510404 c.722G>C p.C241S missense 0.00000831
384. 112451163 c.4027G>A p.E1343K missense 0.00000831
385. 112512873 c.683A>G p.Y228C missense 0.00000831
386. 112512880 c.676C>T p.P226S missense 0.00000830
387. 112443403 c.4268G>C p.G1423A missense 0.00000830
388. 112451165 c.4025G>A p.S1342N missense 0.00000830
389. 112512990 c.566G>T p.C189F missense 0.00000830
390. 112512994 c.562G>T p.D188Y missense 0.00000830
391. 112510396 c.730G>A p.G244R missense 0.00000829
392. 112453989 c.3779A>C p.Q1260P missense 0.00000829
393. 112512889 c.667C>T p.R223C missense 0.00000829
394. 112462701 c.2651A>T p.K884I missense 0.00000829
395. 112480056 c.1674A>G p.I558M missense 0.00000829
396. 112450131 c.4259delA p.N1420Ifs*18 frameshift 0.00000828
397. 112466100 c.2368G>T p.D790Y missense 0.00000828
398. 112441632 c.4498A>G p.M1500V missense 0.00000828
399. 112510327 c.793+6G>A splice site 0.00000828
400. 112455808 c.3397T>C p.S1133P missense 0.00000828
401. 112510327 c.793+6G>T splice site 0.00000828
402. 112462695 c.2657A>G p.E886G missense 0.00000828
403. 112450122 c.4266+2T>G essential splice site 0.00000828
404. 112480052 c.1678G>A p.G560R missense 0.00000828
405. 112510393 c.733G>A p.G245R missense 0.00000828
406. 112450118 c.4266+6A>G splice site 0.00000828
407. 112437202 c.4961-6C>T splice site 0.00000827
408. 112430654 c.5437T>C p.C1813R missense 0.00000827
409. 112462128 c.2793-4delA splice site 0.00000827
410. 112512939 c.617C>G p.T206S missense 0.00000827
411. 112528226 c.418G>A p.A140T missense 0.00000827
412. 112441623 c.4507T>C p.Y1503H missense 0.00000827
413. 112451193 c.3997A>G p.K1333E missense 0.00000827
414. 112450273 c.4117G>C p.D1373H missense 0.00000827
415. 112430659 c.5432A>G p.N1811S missense 0.00000827
416. 112462128 c.2793-4A>G splice site 0.00000827
417. 112451249 c.3948-7T>C splice site 0.00000827
418. 112455796 c.3409C>T p.H1137Y missense 0.00000827
419. 112451237 c.3953A>C p.E1318A missense 0.00000827
420. 112451210 c.3980G>A p.G1327E missense 0.00000827
421. 112430660 c.5431A>G p.N1811D missense 0.00000827
422. 112441479 c.4644+7T>C splice site 0.00000827
423. 112510334 c.792A>C splice site 0.00000827
424. 112450140 c.4250C>T p.A1417V missense 0.00000827
425. 112454025 c.3743A>G p.D1248G missense 0.00000827
426. 112430653 c.5438G>A p.C1813Y missense 0.00000827
427. 112451211 c.3979G>A p.G1327R missense 0.00000827
428. 112441622 c.4508A>T p.Y1503F missense 0.00000827
429. 112439068 c.4834A>T p.S1612C missense 0.00000827
430. 112493964 c.1379C>T p.T460I missense 0.00000827
431. 112451192 c.3998A>C p.K1333T missense 0.00000827
432. 112451203 c.3987G>C p.K1329N missense 0.00000827
433. 112450257 c.4133T>C p.V1378A missense 0.00000826
434. 112441505 c.4625A>T p.N1542I missense 0.00000826
435. 112440511 c.4648A>G p.I1550V missense 0.00000826
436. 112450162 c.4228A>G p.K1410E missense 0.00000826
437. 112480036 c.1694T>A p.L565Q missense 0.00000826
438. 112454035 c.3733T>A p.S1245T missense 0.00000826
439. 112452192 c.3925A>G p.I1309V missense 0.00000826
440. 112452165 c.3947+5A>G splice site 0.00000826
441. 112435392 c.5192G>A p.R1731K missense 0.00000826
442. 112439096 c.4806C>G p.N1602K missense 0.00000826
443. 112457318 c.3393+7delA splice site 0.00000826
444. 112499404 c.1087G>T p.V363F missense 0.00000826
445. 112455688 c.3517C>T p.P1173S missense 0.00000826
446. 112450188 c.4202C>A p.P1401Q missense 0.00000826
447. 112450153 c.4237T>C p.S1413P missense 0.00000826
448. 112430664 c.5427C>A p.S1809R missense 0.00000826
449. 112437194 c.4963G>C p.E1655Q missense 0.00000826
450. 112450242 c.4148G>A p.R1383Q missense 0.00000826
451. 112528249 c.395G>C p.C132S missense 0.00000826
452. 112451213 c.3977T>C p.V1326A missense 0.00000826
453. 112441528 c.4602G>T p.K1534N missense 0.00000826
454. 112440516 c.4645-2A>C essential splice site 0.00000826
455. 112441580 c.4550T>A p.L1517X nonsense 0.00000826
456. 112455759 c.3446G>A p.R1149K missense 0.00000826
457. 112441518 c.4612C>T p.Q1538X nonsense 0.00000826
458. 112440351 c.4800+8A>G splice site 0.00000826
459. 112450164 c.4226G>A p.G1409E missense 0.00000826
460. 112454041 c.3727A>G p.K1243E missense 0.00000826
461. 112493956 c.1387C>G p.L463V missense 0.00000826
462. 112454095 c.3676-3C>T splice site 0.00000826
463. 112457461 c.3262-5C>G splice site 0.00000826
464. 112435398 c.5186T>C p.V1729A missense 0.00000826
465. 112461994 c.2923T>C p.F975L missense 0.00000826
466. 112454100 c.3676-8G>A splice site 0.00000826
467. 112455707 c.3498A>G p.I1166M missense 0.00000826
468. 112450216 c.4174C>T p.L1392F missense 0.00000826
469. 112450195 c.4195T>A p.S1399T missense 0.00000826
470. 112466084 c.2384T>C p.V795A missense 0.00000826
471. 112435403 c.5186-5T>C splice site 0.00000826
472. 112528252 c.392C>A p.P131Q missense 0.00000826
473. 112528232 c.412C>T p.H138Y missense 0.00000826
474. 112441601 c.4529A>G p.N1510S missense 0.00000826
475. 112435950 c.5101A>G p.K1701E missense 0.00000826
476. 112435858 c.5185+8A>G splice site 0.00000826
477. 112450173 c.4217A>G p.H1406R missense 0.00000826
478. 112454085 c.3683G>T p.R1228L missense 0.00000826
479. 112455709 c.3496A>G p.I1166V missense 0.00000826
480. 112443383 c.4288C>A p.P1430T missense 0.00000826
481. 112430669 c.5422G>T p.V1808L missense 0.00000826
482. 112450176 c.4214T>C p.L1405P missense 0.00000826
483. 112455714 c.3491C>G p.T1164R missense 0.00000826
484. 112435861 c.5185+5G>T splice site 0.00000826
485. 112454052 c.3716C>T p.A1239V missense 0.00000826
486. 112455663 c.3536+6G>C splice site 0.00000826
487. 112462003 c.2914G>T p.D972Y missense 0.00000826
488. 112510350 c.776G>A p.G259D missense 0.00000826
489. 112450179 c.4211T>A p.L1404H missense 0.00000826
490. 112454083 c.3685A>G p.R1229G missense 0.00000826
491. 112430663 c.5428A>G p.I1810V missense 0.00000826
492. 112454086 c.3682C>T p.R1228C missense 0.00000826
493. 112528240 c.404C>T p.P135L missense 0.00000826
494. 112441572 c.4558G>A p.G1520S missense 0.00000826
495. 112435336 c.5248C>T p.P1750S missense 0.00000825
496. 112480025 c.1705C>G p.L569V missense 0.00000825
497. 112435296 c.5288T>G p.F1763C missense 0.00000825
498. 112480007 c.1723C>G p.L575V missense 0.00000825
499. 112469520 c.2171T>C p.L724P missense 0.00000825
500. 112430731 c.5360G>A p.R1787H missense 0.00000825
501. 112461070 c.2973C>A p.N991K missense 0.00000825
502. 112528342 c.302_303delGC p.Cys101SerfsTer10 frameshift 0.00000825
503. 112443379 c.4292C>T p.S1431L missense 0.00000825
504. 112443364 c.4307C>T p.A1436V missense 0.00000825
505. 112493920 c.1423A>G p.N475D missense 0.00000825
506. 112469544 c.2153-6G>A splice site 0.00000825
507. 112452303 c.3814_3817delTCAG p.Ser1272ThrfsTer16 frameshift 0.00000825
508. 112441552 c.4578T>A p.F1526L missense 0.00000825
509. 112499328 c.1163T>C p.I388T missense 0.00000825
510. 112469527 c.2164C>G p.Q722E missense 0.00000825
511. 112457407 c.3311A>G p.Y1104C missense 0.00000825
512. 112440373 c.4786G>T p.V1596L missense 0.00000825
513. 112430709 c.5382C>G p.H1794Q missense 0.00000825
514. 112528301 c.343G>A p.D115N missense 0.00000825
515. 112466073 c.2395C>T p.R799X nonsense 0.00000825
516. 112435913 c.5138T>A p.V1713D missense 0.00000825
517. 112528305 c.339T>A p.C113X nonsense 0.00000825
518. 112462668 c.2684A>T p.D895V missense 0.00000825
519. 112463313 c.2646+8C>T splice site 0.00000825
520. 112435938 c.5113G>A p.G1705S missense 0.00000825
521. 112435338 c.5246G>A p.G1749E missense 0.00000825
522. 112480034 c.1696C>T p.Q566X nonsense 0.00000825
523. 112480015 c.1715T>C p.L572P missense 0.00000825
524. 112469520 c.2171T>G p.L724R missense 0.00000825
525. 112462106 c.2811G>C p.K937N missense 0.00000825
526. 112430732 c.5359C>T p.R1787C missense 0.00000825
527. 112452288 c.3829A>G p.I1277V missense 0.00000825
528. 112461080 c.2963C>T p.T988I missense 0.00000825
529. 112443210 c.4454+7T>G splice site 0.00000825
530. 112463319 c.2646+2dupT splice site 0.00000825
531. 112493928 c.1415A>T p.D472V missense 0.00000825
532. 112476148 c.1940C>T p.A647V missense 0.00000825
533. 112528277 c.367A>G p.R123G missense 0.00000825
534. 112441557 c.4573A>G p.M1525V missense 0.00000825
535. 112499385 c.1106A>G p.D369G missense 0.00000825
536. 112457374 c.3344T>C p.L1115P missense 0.00000825
537. 112469515 c.2176C>T p.Q726X nonsense 0.00000825
538. 112440501 c.4658G>C p.R1553P missense 0.00000825
539. 112440387 c.4772C>G p.A1591G missense 0.00000825
540. 112430714 c.5377G>A p.G1793R missense 0.00000825
541. 112528309 c.335A>G p.K112R missense 0.00000825
542. 112480017 c.1713C>A p.N571K missense 0.00000825
543. 112462112 c.2805T>A p.H935Q missense 0.00000825
544. 112435361 c.5223C>A p.D1741E missense 0.00000825
545. 112469538 c.2153G>C p.G718A missense 0.00000825
546. 112430767 c.5324G>C p.R1775P missense 0.00000825
547. 112493806 c.1530+7C>A splice site 0.00000825
548. 112528298 c.346G>A p.G116S missense 0.00000825
549. 112493940 c.1403T>C p.L468P missense 0.00000825
550. 112466049 c.2419A>G p.S807G missense 0.00000825
551. 112466073 c.2395C>G p.R799G missense 0.00000825
552. 112528324 c.320G>A p.G107E missense 0.00000825
553. 112522889 c.423T>G p.N141K missense 0.00000825
554. 112435914 c.5137G>A p.V1713I missense 0.00000825
555. 112441563 c.4567G>A p.V1523I missense 0.00000825
556. 112499390 c.1101C>A p.S367R missense 0.00000825
557. 112469517 c.2174G>A p.G725E missense 0.00000825
558. 112462096 c.2821A>G p.T941A missense 0.00000825
559. 112462040 c.2877T>G p.F959L missense 0.00000825
560. 112430729 c.5362C>T p.H1788Y missense 0.00000825
561. 112443371 c.4300C>T p.P1434S missense 0.00000825
562. 112443356 c.4315C>A p.L1439I missense 0.00000825
563. 112457380 c.3338T>C p.V1113A missense 0.00000825
564. 112452297 c.3820G>A p.V1274M missense 0.00000825
565. 112462113 c.2804A>G p.H935R missense 0.00000825
566. 112441550 c.4580A>G p.N1527S missense 0.00000825
567. 112435374 c.5210A>G p.Q1737R missense 0.00000825
568. 112440499 c.4660G>A p.E1554K missense 0.00000825
569. 112430768 c.5323C>G p.R1775G missense 0.00000825
570. 112537642 c.224T>C p.L75P missense 0.00000825
571. 112430758 c.5333C>A p.P1778H missense 0.00000825
572. 112528336 c.308G>T p.R103L missense 0.00000825
573. 112430687 c.5404G>A p.A1802T missense 0.00000825
574. 112466062 c.2406C>G p.S802R missense 0.00000825
575. 112435273 c.5305+6T>A splice site 0.00000825
576. 112437173 c.4984A>G p.K1662E missense 0.00000825
577. 112462664 c.2688T>G p.N896K missense 0.00000825
578. 112457434 c.3284T>C p.M1095T missense 0.00000825
579. 112457429 c.3289A>C p.N1097H missense 0.00000825
580. 112430716 c.5375dupA p.Asp1792GlufsTer9 frameshift 0.00000825
581. 112435905 c.5146A>G p.K1716E missense 0.00000825
582. 112462080 c.2837G>A p.S946N missense 0.00000824
583. 112499354 c.1137G>T p.E379D missense 0.00000824
584. 112471718 c.2147A>G p.E716G missense 0.00000824
585. 112496661 c.1190A>G p.Y397C missense 0.00000824
586. 112496521 c.1330T>A p.Y444N missense 0.00000824
587. 112440438 c.4721C>G p.P1574R missense 0.00000824
588. 112454543 c.3675+8C>A splice site 0.00000824
589. 112440411 c.4748G>A p.G1583D missense 0.00000824
590. 112443226 c.4445T>C p.F1482S missense 0.00000824
591. 112496517 c.1334A>G p.E445G missense 0.00000824
592. 112476837 c.1868T>C p.I623T missense 0.00000824
593. 112469426 c.2265G>T p.W755C missense 0.00000824
594. 112476842 c.1863A>C p.E621D missense 0.00000824
595. 112479972 c.1758T>G p.H586Q missense 0.00000824
596. 112454643 c.3583A>G p.M1195V missense 0.00000824
597. 112537598 c.268G>A p.E90K missense 0.00000824
598. 112508745 c.852C>G p.I284M missense 0.00000824
599. 112460489 c.3094A>C p.K1032Q missense 0.00000824
600. 112496512 c.1336+3A>G splice site 0.00000824
601. 112463445 c.2522C>T p.S841L missense 0.00000824
602. 112460465 c.3118G>A p.A1040T missense 0.00000824
603. 112439029 c.4873T>C p.S1625P missense 0.00000824
604. 112508671 c.926C>T p.A309V missense 0.00000824
605. 112438965 c.4937C>T p.T1646I missense 0.00000824
606. 112506534 c.961A>G p.R321G missense 0.00000824
607. 112476142 c.1946G>A p.S649N missense 0.00000824
608. 112522857 c.455C>T p.A152V missense 0.00000824
609. 112506498 c.997A>C p.N333H missense 0.00000824
610. 112437085 c.5072T>C p.V1691A missense 0.00000824
611. 112506482 c.1013C>A p.T338K missense 0.00000824
612. 112486450 c.1559T>C p.M520T missense 0.00000824
613. 112476062 c.2026G>C p.A676P missense 0.00000824
614. 112476761 c.1938+6T>C splice site 0.00000824
615. 112499379 c.1112T>C p.I371T missense 0.00000824
616. 112462611 c.2741C>A p.S914Y missense 0.00000824
617. 112461002 c.3041T>A p.F1014Y missense 0.00000824
618. 112469446 c.2245G>A p.A749T missense 0.00000824
619. 112508770 c.827C>G p.A276G missense 0.00000824
620. 112496630 c.1221G>T p.K407N missense 0.00000824
621. 112476826 c.1879G>A p.V627I missense 0.00000824
622. 112460982 c.3061G>A p.D1021N missense 0.00000824
623. 112506519 c.976G>T p.A326S missense 0.00000824
624. 112493905 c.1438G>C p.D480H missense 0.00000824
625. 112476107 c.1981G>A p.E661K missense 0.00000824
626. 112462553 c.2792+7T>C splice site 0.00000824
627. 112476083 c.2005G>T p.A669S missense 0.00000824
628. 112506521 c.974_975insA p.Tyr325Ter frameshift 0.00000824
629. 112486417 c.1592C>T p.A531V missense 0.00000824
630. 112460330 c.3253G>A p.V1085I missense 0.00000824
631. 112471797 c.2068C>T p.R690C missense 0.00000824
632. 112522814 c.498T>A p.C166X nonsense 0.00000824
633. 112438959 c.4943delG p.Gly1648GlufsTer6 frameshift 0.00000824
634. 112506454 c.1041G>C p.E347D missense 0.00000824
635. 112486432 c.1577C>T p.S526F missense 0.00000824
636. 112454689 c.3537G>A splice site 0.00000824
637. 112499363 c.1128G>C p.Q376H missense 0.00000824
638. 112471752 c.2113C>T p.L705F missense 0.00000824
639. 112437058 c.5091+8C>T splice site 0.00000824
640. 112440474 c.4685T>C p.I1562T missense 0.00000824
641. 112537600 c.266A>G p.N89S missense 0.00000824
642. 112508746 c.851T>C p.I284T missense 0.00000824
643. 112440438 c.4721C>T p.P1574L missense 0.00000824
644. 112469439 c.2252A>G p.N751S missense 0.00000824
645. 112461021 c.3022G>A p.V1008M missense 0.00000824
646. 112460954 c.3089G>C p.R1030P missense 0.00000824
647. 112460467 c.3116G>A p.R1039Q missense 0.00000824
648. 112508672 c.925G>A p.A309T missense 0.00000824
649. 112438977 c.4925C>A p.T1642N missense 0.00000824
650. 112469410 c.2281C>T p.H761Y missense 0.00000824
651. 112469401 c.2290delT p.Ser764LeufsTer8 frameshift 0.00000824
652. 112460391 c.3192G>T p.Q1064H missense 0.00000824
653. 112443246 c.4425T>G p.F1475L missense 0.00000824
654. 112463420 c.2547G>C p.K849N missense 0.00000824
655. 112506498 c.997A>G p.N333D missense 0.00000824
656. 112493824 c.1519C>T p.R507W missense 0.00000824
657. 112437112 c.5045A>T p.H1682L missense 0.00000824
658. 112460990 c.3053A>G p.Y1018C missense 0.00000824
659. 112486457 c.1552G>A p.E518K missense 0.00000824
660. 112471749 c.2116A>G p.S706G missense 0.00000824
661. 112462620 c.2732C>T p.P911L missense 0.00000824
662. 112440394 c.4765G>A p.G1589S missense 0.00000824
663. 112462596 c.2756C>T p.S919F missense 0.00000824
664. 112496545 c.1306G>A p.V436M missense 0.00000824
665. 112496631 c.1220A>G p.K407R missense 0.00000824
666. 112479982 c.1748C>G p.A583G missense 0.00000824
667. 112462093 c.2824G>C p.V942L missense 0.00000824
668. 112469461 c.2230G>A p.A744T missense 0.00000824
669. 112499341 c.1150A>G p.M384V missense 0.00000824
670. 112469449 c.2242A>C p.M748L missense 0.00000824
671. 112454580 c.3646G>A p.V1216I missense 0.00000824
672. 112537579 c.287G>A p.G96E missense 0.00000824
673. 112508743 c.854A>T p.E285V missense 0.00000824
674. 112476828 c.1877A>G p.Y626C missense 0.00000824
675. 112471779 c.2086G>A p.A696T missense 0.00000824
676. 112506536 c.959A>G p.E320G missense 0.00000824
677. 112438948 c.4954G>T p.V1652F missense 0.00000824
678. 112486436 c.1573_1574delAT p.M525Vfs*20 frameshift 0.00000824
679. 112506528 c.967A>T p.N323Y missense 0.00000824
680. 112493907 c.1436C>A p.S479X nonsense 0.00000824
681. 112476114 c.1974T>G p.H658Q missense 0.00000824
682. 112463474 c.2493T>G p.F831L missense 0.00000824
683. 112522807 c.503+2T>C essential splice site 0.00000824
684. 112476083 c.2005G>A p.A669T missense 0.00000824
685. 112463428 c.2539G>A p.D847N missense 0.00000824
686. 112460443 c.3140G>A p.G1047D missense 0.00000824
687. 112486445 c.1564G>A p.V522M missense 0.00000824
688. 112471807 c.2058C>A p.D686E missense 0.00000824
689. 112471798 c.2067G>T p.R689S missense 0.00000824
690. 112460332 c.3251T>C p.M1084T missense 0.00000824
691. 112522837 c.475G>A p.E159K missense 0.00000824
692. 112499364 c.1127A>G p.Q376R missense 0.00000824
693. 112454670 c.3556C>A p.P1186T missense 0.00000824
694. 112440475 c.4684A>T p.I1562F missense 0.00000824
695. 112537619 c.247G>C p.D83H missense 0.00000824
696. 112508750 c.847T>C p.S283P missense 0.00000824
697. 112496596 c.1255A>T p.M419L missense 0.00000824
698. 112460356 c.3227C>A p.A1076D missense 0.00000824
699. 112469441 c.2250C>G p.N750K missense 0.00000824
700. 112454688 c.3538G>A p.A1180T missense 0.00000824
701. 112522841 c.471dupT p.Asn158Ter frameshift 0.00000824
702. 112476787 c.1918A>G p.T640A missense 0.00000824
703. 112438996 c.4906G>A p.G1636S missense 0.00000824
704. 112461038 c.3005C>A p.A1002D missense 0.00000824
705. 112460955 c.3088C>T p.R1030X nonsense 0.00000824
706. 112508647 c.945+5G>A splice site 0.00000824
707. 112460483 c.3100G>T p.A1034S missense 0.00000824
708. 112486469 c.1540G>C p.E514Q missense 0.00000824
709. 112476075 c.2013A>C p.E671D missense 0.00000824
710. 112460429 c.3154G>C p.V1052L missense 0.00000824
711. 112476764 c.1938+3G>A splice site 0.00000824
712. 112469448 c.2243dupT p.Met748IlefsTer16 frameshift 0.00000824
713. 112460413 c.3170C>A p.T1057K missense 0.00000824
714. 112443286 c.4385C>G p.A1462G missense 0.00000824
715. 112454554 c.3672_3675delACTT p.Leu1225TyrfsTer63 frameshift 0.00000824
716. 112506518 c.977C>T p.A326V missense 0.00000824
717. 112493835 c.1508C>T p.A503V missense 0.00000824
718. 112437116 c.5041G>A p.G1681S missense 0.00000824
719. 112469481 c.2210C>T p.T737M missense 0.00000824
720. 112461018 c.3025A>C p.I1009L missense 0.00000824
721. 112438975 c.4927delT p.Tyr1643ThrfsTer11 frameshift 0.00000824
722. 112486399 c.1610C>G p.P537R missense 0.00000824
723. 112471788 c.2077G>A p.G693R missense 0.00000824
724. 112462638 c.2714C>T p.T905I missense 0.00000824
725. 112440445 c.4714C>T p.L1572F missense 0.00000824
726. 112469512 c.2179T>C p.S727P missense 0.00000824
727. 112496659 c.1192T>C p.Y398H missense 0.00000824
728. 112479988 c.1742A>G p.Q581R missense 0.00000824
729. 112508705 c.892G>A p.A298T missense 0.00000824
730. 112476829 c.1876T>C p.Y626H missense 0.00000824
731. 112469379 c.2312T>C p.V771A missense 0.00000824
732. 112461045 c.2998G>C p.E1000Q missense 0.00000824
733. 112437127 c.5030C>T p.T1677I missense 0.00000824
734. 112476892 c.1813G>A p.D605N missense 0.00000824
735. 112461014 c.3029G>A p.S1010N missense 0.00000824
736. 112454583 c.3643G>A p.G1215R missense 0.00000824
737. 112440454 c.4705G>C p.E1569Q missense 0.00000824
738. 112537597 c.269A>G p.E90G missense 0.00000824
739. 112496559 c.1292C>G p.T431S missense 0.00000824
740. 112440399 c.4760T>C p.L1587S missense 0.00000824
741. 112463437 c.2530A>G p.S844G missense 0.00000824
742. 112460462 c.3121G>T p.A1041S missense 0.00000824
743. 112476119 c.1969T>A p.Y657N missense 0.00000824
744. 112486483 c.1531-5C>T splice site 0.00000824
745. 112506537 c.958G>A p.E320K missense 0.00000824
746. 112506530 c.965A>G p.E322G missense 0.00000824
747. 112476115 c.1973A>C p.H658P missense 0.00000824
748. 112522851 c.461G>A p.R154Q missense 0.00000824
749. 112506494 c.1001A>G p.N334S missense 0.00000824
750. 112437068 c.5089C>T p.Q1697X nonsense 0.00000824
751. 112506479 c.1016T>C p.M339T missense 0.00000824
752. 112486448 c.1561G>A p.E521K missense 0.00000824
753. 112476061 c.2027C>A p.A676E missense 0.00000824
754. 112463374 c.2593C>T p.P865S missense 0.00000824
755. 112476048 c.2035+5A>G splice site 0.00000824
756. 112471799 c.2066G>C p.R689T missense 0.00000824
757. 112460359 c.3224C>T p.P1075L missense 0.00000824
758. 112463502 c.2473-8C>T splice site 0.00000824
759. 112499372 c.1119C>A p.H373Q missense 0.00000824
760. 112471716 c.2149A>G p.R717G missense 0.00000824
761. 112438986 c.4916A>G p.E1639G missense 0.00000824
762. 112486471 c.1538A>G p.Q513R missense 0.00000824
763. 112469446 c.2245G>C p.A749P missense 0.00000824
764. 112454673 c.3553C>A p.L1185I missense 0.00000824
765. 112463461 c.2506G>C p.A836P missense 0.00000824
766. 112508750 c.847T>G p.S283A missense 0.00000824
767. 112479952 c.1778A>C p.E593A missense 0.00000824
768. 112469481 c.2210C>A p.T737K missense 0.00000824
769. 112508692 c.905G>A p.R302K missense 0.00000824
770. 112476807 c.1898C>T p.T633I missense 0.00000824
771. 112471706 c.2152+7A>T splice site 0.00000824
772. 112476778 c.1927C>T p.R643X nonsense 0.00000824
773. 112460973 c.3070A>G p.T1024A missense 0.00000824
774. 112460366 c.3217C>T p.R1073X nonsense 0.00000824
775. 112493857 c.1486G>A p.E496K missense 0.00000824
776. 112476094 c.1994T>G p.L665R missense 0.00000824
777. 112493820 c.1523A>T p.D508V missense 0.00000824
778. 112476082 c.2006C>A p.A669D missense 0.00000824
779. 112463394 c.2573T>C p.M858T missense 0.00000824
780. 112460438 c.3145G>C p.G1049R missense 0.00000824
781. 112460491 c.3092A>G p.D1031G missense 0.00000824
782. 112460416 c.3167T>C p.I1056T missense 0.00000824
783. 112443321 c.4350C>A p.C1450X nonsense 0.00000824
784. 112460321 c.3261+1G>T essential splice site 0.00000824
785. 112471790 c.2075G>A p.G692D missense 0.00000824
786. 112506451 c.1044A>T p.E348D missense 0.00000824
787. 112486432 c.1577C>A p.S526Y missense 0.00000824
788. 112486412 c.1597T>C p.S533P 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.