MYBPC3 protein-altering variants in ExAC


The table below lists the MYBPC3 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. 47374196 c.3G>A p.Met1? missense 0.00000838
2. 47374188 c.11C>T p.P4L missense 0.00003343
3. 47373058 c.26-2A>G essential splice site 0.00005114
4. 47373041 c.41A>G p.K14R missense 0.00001212
5. 47373036 c.46C>T p.P16S missense 0.00002408
6. 47373033 c.49C>T p.R17W missense 0.00002399
7. 47373032 c.50G>T p.R17L missense 0.00002383
8. 47373015 c.67G>A p.A23T missense 0.00002310
9. 47373009 c.73A>T p.S25C missense 0.00002279
10. 47373008 c.74G>A p.S25N missense 0.00005715
11. 47372994 c.88G>A p.E30K missense 0.00001113
12. 47372991 c.91G>A p.A31T missense 0.00001112
13. 47372988 c.94G>A p.E32K missense 0.00007818
14. 47372988 c.94G>C p.E32Q missense 0.00001117
15. 47372984 c.98_99delCA p.Thr33ArgfsTer15 frameshift 0.00001118
16. 47372979 c.103C>T p.R35W missense 0.00005626
17. 47372978 c.104G>A p.R35Q missense 0.00007909
18. 47372975 c.107C>A p.A36E missense 0.00003394
19. 47372965 c.117G>T p.K39N missense 0.00001148
20. 47372964 c.118G>A p.V40M missense 0.00001150
21. 47372961 c.121C>T p.R41C missense 0.00003493
22. 47372960 c.122G>A p.R41H missense 0.00003504
23. 47372952 c.130C>T p.R44C missense 0.00002413
24. 47372951 c.131G>A p.R44H missense 0.00003633
25. 47372949 c.133G>A p.G45R missense 0.00002442
26. 47372937 c.145A>T p.I49F missense 0.00002551
27. 47372936 c.146_148delTCA p.Ile49del inframe 0.00003922
28. 47372934 c.148A>G p.S50G missense 0.00003887
29. 47372931 c.151G>A p.A51T missense 0.00001332
30. 47372931 c.151G>T p.A51S missense 0.00002664
31. 47372930 c.152C>T p.A51V missense 0.00001337
32. 47372916 c.166G>A p.G56S missense 0.00001500
33. 47372895 c.187C>T p.R63W missense 0.00007739
34. 47372894 c.188G>A p.R63Q missense 0.00003933
35. 47372888 c.194C>T p.T65M missense 0.00004280
36. 47372876 c.206G>A p.R69Q missense 0.00002494
37. 47372859 c.223G>A p.D75N missense 0.00009129
38. 47372844 c.238G>A p.A80T missense 0.00003389
39. 47372831 c.251G>A p.G84D missense 0.00003832
40. 47372795 c.287A>G p.E96G missense 0.00005641
41. 47372095 c.364G>A p.A122T missense 0.00003700
42. 47371664 c.407-1G>A essential splice site 0.00004694
43. 47371636 c.434C>A p.P145H missense 0.00004276
44. 47371633 c.437C>T p.T146I missense 0.00008443
45. 47371628 c.442G>A p.G148R missense 0.00004201
46. 47371624 c.446C>A p.A149D missense 0.00004162
47. 47371619 c.451G>A p.D151N missense 0.00004106
48. 47371589 c.481C>A p.P161T missense 0.00004148
49. 47371567 c.503T>C p.V168A missense 0.00008420
50. 47371467 c.512G>A p.S171N missense 0.00001288
51. 47371452 c.527C>G p.A176G missense 0.00001044
52. 47371452 c.527C>T p.A176V missense 0.00001044
53. 47371450 c.529C>T p.R177C missense 0.00006270
54. 47371447 c.532G>A p.V178M missense 0.00002045
55. 47371441 c.538G>A p.G180S missense 0.00000996
56. 47371438 c.541G>A p.A181T missense 0.00001981
57. 47371426 c.553A>C p.K185Q missense 0.00001904
58. 47371425 c.554A>G p.K185R missense 0.00001905
59. 47371422 c.557C>T p.P186L missense 0.00004764
60. 47371411 c.568A>G p.K190E missense 0.00000928
61. 47371406 c.573G>T p.W191C missense 0.00000923
62. 47371381 c.598A>G p.S200G missense 0.00003600
63. 47371375 c.604A>C p.K202Q missense 0.00004496
64. 47371348 c.631G>A p.D211N missense 0.00000903
65. 47371345 c.634A>G p.S212G missense 0.00000903
66. 47371339 c.640G>A p.D214N missense 0.00003634
67. 47371335 c.644G>A p.R215H missense 0.00001822
68. 47370092 c.655G>T p.V219F missense 0.00001064
69. 47370088 c.659A>G p.Y220C missense 0.00004178
70. 47370065 c.682G>A p.D228N missense 0.00005694
71. 47370063 c.684T>G p.D228E missense 0.00007543
72. 47370047 c.700A>G p.T234A missense 0.00001838
73. 47370035 c.712C>T p.R238C missense 0.00000925
74. 47370034 c.713G>A p.R238H missense 0.00007431
75. 47370002 c.745T>C p.C249R missense 0.00001003
76. 47370001 c.746G>A p.C249Y missense 0.00001009
77. 47369995 c.752A>T p.N251I missense 0.00005201
78. 47369975 c.772G>A p.E258K missense 0.00003903
79. 47369430 c.799C>G p.L267V missense 0.00008028
80. 47369424 c.805T>C p.S269P missense 0.00004076
81. 47369415 c.814C>T p.R272C missense 0.00008379
82. 47369414 c.815G>A p.R272H missense 0.00004210
83. 47369411 c.818G>A p.R273H missense 0.00004268
84. 47369408 c.821C>T p.T274M missense 0.00008578
85. 47369407 c.821+1G>A essential splice site 0.00004310
86. 47369211 c.842G>A p.R281Q missense 0.00006987
87. 47369208 c.845G>A p.R282Q missense 0.00003483
88. 47369031 c.852-1G>T essential splice site 0.00002037
89. 47369023 c.859C>T p.H287Y missense 0.00004162
90. 47368996 c.886A>G p.S296G missense 0.00002340
91. 47368581 c.906-1G>C essential splice site 0.00000884
92. 47368188 c.916C>T p.R306W missense 0.00000925
93. 47368187 c.917G>A p.R306Q missense 0.00003694
94. 47368177 c.926+1G>A essential splice site 0.00001840
95. 47367899 c.949G>A p.A317T missense 0.00001421
96. 47367892 c.956A>C p.E319A missense 0.00007891
97. 47367888 c.960C>G p.D320E missense 0.00001278
98. 47367887 c.961G>C p.V321L missense 0.00001250
99. 47367878 c.970A>T p.I324F missense 0.00001153
100. 47367872 c.976C>T p.R326W missense 0.00002182
101. 47367854 c.994G>A p.E332K missense 0.00000970
102. 47367845 c.1003C>T p.R335C missense 0.00001848
103. 47367842 c.1006A>T p.I336F missense 0.00000905
104. 47367839 c.1009G>A p.A337T missense 0.00000899
105. 47367827 c.1021G>A p.G341S missense 0.00002584
106. 47367810 c.1038_1042dupCGGCA frameshift 0.00000842
107. 47367809 c.1039G>A p.G347S missense 0.00001688
108. 47367778 c.1070G>A p.R357H missense 0.00001671
109. 47367776 c.1072G>A p.D358N missense 0.00000835
110. 47367774 c.1074T>A p.D358E missense 0.00001671
111. 47367766 c.1082_1084delAGA p.Lys361del inframe 0.00000836
112. 47367764 c.1084A>G p.S362G missense 0.00000836
113. 47365175 c.1091C>T p.A364V missense 0.00006786
114. 47365166 c.1100A>G p.K367R missense 0.00000956
115. 47365165 c.1101G>T p.K367N missense 0.00000955
116. 47365154 c.1112C>T p.P371L missense 0.00002829
117. 47365146 c.1120C>A p.Q374K missense 0.00000938
118. 47365143 c.1123G>A p.V375M missense 0.00000939
119. 47365133 c.1133G>C p.G378A missense 0.00000950
120. 47365123 c.1143_1144insTC p.Arg382SerfsTer3 frameshift 0.00000970
121. 47365122 c.1144delC p.Arg382GlyfsTer2 frameshift 0.00000975
122. 47365121 c.1145G>A p.R382Q missense 0.00000975
123. 47365119 c.1147C>G p.L383V missense 0.00008857
124. 47365113 c.1153G>A p.V385M missense 0.00001011
125. 47365095 c.1171G>T p.D391Y missense 0.00001152
126. 47365086 c.1180G>A p.V394I missense 0.00001298
127. 47365055 c.1211A>C p.Q404P missense 0.00002032
128. 47364697 c.1227-1_1228dupGGT p.Lys409_Tyr410insTrp inframe 0.00000977
129. 47364677 c.1246G>A p.G416S missense 0.00002898
130. 47364668 c.1255C>T p.R419C missense 0.00000959
131. 47364667 c.1256G>A p.R419H missense 0.00001918
132. 47364667 c.1256G>C p.R419P missense 0.00000959
133. 47364632 c.1291G>A p.D431N missense 0.00002811
134. 47364629 c.1294G>A p.A432T missense 0.00003756
135. 47364614 c.1309G>A p.V437M missense 0.00000911
136. 47364614 c.1309G>T p.V437L missense 0.00001822
137. 47364607 c.1316G>A p.G439D missense 0.00001808
138. 47364604 c.1319G>A p.G440D missense 0.00000902
139. 47364589 c.1334C>T p.T445M missense 0.00000890
140. 47364481 c.1357C>G p.P453A missense 0.00000895
141. 47364480 c.1358C>T p.P453L missense 0.00000895
142. 47364477 c.1361T>C p.V454A missense 0.00001780
143. 47364475 c.1363C>T p.L455F missense 0.00003567
144. 47364466 c.1372C>T p.R458C missense 0.00005314
145. 47364465 c.1373G>A p.R458H missense 0.00004424
146. 47364463 c.1375C>T p.P459S missense 0.00000882
147. 47364441 c.1397T>A p.M466K missense 0.00000867
148. 47364433 c.1405C>G p.Q469E missense 0.00000863
149. 47364429 c.1409G>A p.R470Q missense 0.00000862
150. 47364415 c.1423T>C p.C475R missense 0.00000854
151. 47364405 c.1433C>T p.S478L missense 0.00001702
152. 47364396 c.1442G>A p.G481E missense 0.00000847
153. 47364393 c.1445C>T p.A482V missense 0.00004233
154. 47364294 c.1459C>A p.L487M missense 0.00000831
155. 47364284 c.1469G>A p.G490E missense 0.00000830
156. 47364282 c.1471G>A p.V491M missense 0.00005813
157. 47364281 c.1472T>G p.V491G missense 0.00001660
158. 47364269 c.1484G>A p.R495Q missense 0.00000829
159. 47364266 c.1487A>G p.E496G missense 0.00000829
160. 47364260 c.1493C>A p.T498N missense 0.00000829
161. 47364254 c.1499A>C p.K500T missense 0.00000829
162. 47364250 c.1503C>G p.Y501X nonsense 0.00000829
163. 47364249 c.1504C>T p.R502W missense 0.00002486
164. 47364213 c.1540A>G p.I514V missense 0.00000829
165. 47364210 c.1543_1545delAAC inframe 0.00000829
166. 47364207 c.1546G>A p.E516K missense 0.00004145
167. 47364199 c.1554G>A p.M518I missense 0.00001659
168. 47364188 c.1565C>T p.A522V missense 0.00002494
169. 47364173 c.1580T>C p.L527P missense 0.00000839
170. 47364164 c.1589G>A p.S530N missense 0.00000854
171. 47364162 c.1591G>C p.G531R missense 0.00001732
172. 47364162 c.1591G>A p.G531R missense 0.00001732
173. 47364158 c.1595G>A p.G532D missense 0.00000882
174. 47364154 c.1599G>C p.Q533H missense 0.00000900
175. 47364152 c.1601C>T p.A534V missense 0.00004571
176. 47364138 c.1615A>G p.I539V missense 0.00006519
177. 47364130 c.1623G>C p.Q541H missense 0.00001221
178. 47364129 c.1624G>C p.E542Q missense 0.00002485
179. 47363699 c.1633C>A p.L545M missense 0.00003388
180. 47363693 c.1639G>A p.V547M missense 0.00000845
181. 47363693 c.1639delG p.Val547CysfsTer8 frameshift 0.00000845
182. 47363668 c.1664T>C p.M555T missense 0.00002529
183. 47363660 c.1672G>A p.A558T missense 0.00000848
184. 47363654 c.1678G>C p.D560H missense 0.00000852
185. 47363647 c.1685C>T p.A562V missense 0.00000860
186. 47363612 c.1720C>T p.R574W missense 0.00005411
187. 47363606 c.1726G>A p.V576M missense 0.00001222
188. 47363559 c.1773G>T p.K591N missense 0.00003300
189. 47363554 c.1778C>T p.S593F missense 0.00003456
190. 47363543 c.1789C>T p.R597W missense 0.00003821
191. 47362777 c.1809T>G p.I603M missense 0.00004267
192. 47362773 c.1813_1814insCG p.D605Afs*59 frameshift 0.00002092
193. 47362770 c.1816G>A p.V606I missense 0.00006166
194. 47362766 c.1820C>T p.T607I missense 0.00002017
195. 47362763 c.1823C>G p.P608R missense 0.00005938
196. 47362760 c.1826C>T p.A609V missense 0.00003924
197. 47362758 c.1828G>C p.D610H missense 0.00005827
198. 47362719 c.1867T>A p.C623S missense 0.00001835
199. 47362715 c.1871A>G p.N624S missense 0.00003716
200. 47362697 c.1889A>T p.H630L missense 0.00003963
201. 47362562 c.1919C>T p.P640L missense 0.00005426
202. 47361331 c.1938G>C p.K646N missense 0.00001660
203. 47361327 c.1942C>T p.H648Y missense 0.00000830
204. 47361314 c.1955C>G p.P652R missense 0.00000829
205. 47361309 c.1960C>T p.R654C missense 0.00000829
206. 47361296 c.1973C>T p.T658I missense 0.00001659
207. 47361291 c.1978G>T p.V660L missense 0.00000830
208. 47361284 c.1985T>C p.V662A missense 0.00000831
209. 47361270 c.1999C>A p.L667I missense 0.00000836
210. 47361267 c.2002C>T p.R668C missense 0.00001680
211. 47361251 c.2018T>C p.I673T missense 0.00000909
212. 47361236 c.2033C>A p.A678D missense 0.00002214
213. 47361228 c.2041G>A p.V681M missense 0.00001248
214. 47361213 c.2056G>C p.A686P missense 0.00001637
215. 47361213 c.2056G>A p.A686T missense 0.00001637
216. 47361206 c.2063C>A p.T688K missense 0.00001872
217. 47360946 c.2077G>T p.A693S missense 0.00003313
218. 47360924 c.2099A>T p.D700V missense 0.00001656
219. 47360910 c.2113dupA frameshift 0.00000828
220. 47360904 c.2119G>A p.D707N missense 0.00001656
221. 47360889 c.2134G>T p.V712L missense 0.00001656
222. 47360888 c.2135T>C p.V712A missense 0.00000828
223. 47360218 c.2161A>T p.T721S missense 0.00000983
224. 47360215 c.2164G>A p.E722K missense 0.00002917
225. 47360215 c.2164G>C p.E722Q missense 0.00000972
226. 47360209 c.2170C>T p.R724W missense 0.00001900
227. 47360203 c.2176C>T p.R726C missense 0.00003633
228. 47360202 c.2177G>A p.R726H missense 0.00003627
229. 47360200 c.2179G>A p.V727M missense 0.00003605
230. 47360191 c.2188A>C p.T730P missense 0.00000872
231. 47360190 c.2189C>T p.T730I missense 0.00000866
232. 47360182 c.2197C>T p.R733C missense 0.00008557
233. 47360181 c.2198G>A p.R733H missense 0.00003404
234. 47360181 c.2198G>T p.R733L missense 0.00002553
235. 47360179 c.2200A>G p.S734G missense 0.00002548
236. 47360169 c.2210C>T p.T737M missense 0.00005037
237. 47360137 c.2242G>A p.V748I missense 0.00002490
238. 47360130 c.2249C>T p.T750M missense 0.00002489
239. 47360110 c.2269G>A p.V757M missense 0.00006633
240. 47360104 c.2275G>A p.E759K missense 0.00002487
241. 47360101 c.2278G>C p.D760H missense 0.00003316
242. 47360079 c.2300A>G p.K767R missense 0.00001659
243. 47360071 c.2308G>A p.D770N missense 0.00000830
244. 47359343 c.2311G>A p.V771M missense 0.00005661
245. 47359315 c.2339T>G p.I780S missense 0.00004860
246. 47359309 c.2345A>G p.N782S missense 0.00004741
247. 47359281 c.2373_2374insG p.Trp792ValfsTer41 frameshift 0.00003782
248. 47359256 c.2398G>A p.G800R missense 0.00005353
249. 47359132 c.2414-2A>G essential splice site 0.00000831
250. 47359118 c.2426A>G p.E809G missense 0.00000830
251. 47359115 c.2429G>A p.R810H missense 0.00003319
252. 47359105 c.2439G>C p.K813N missense 0.00001658
253. 47359101 c.2443_2443insCGA p.Lys814_Ser815insThr inframe 0.00000830
254. 47359094 c.2450G>C p.R817P missense 0.00000829
255. 47359094 c.2450G>A p.R817Q missense 0.00001657
256. 47359086 c.2458C>T p.R820W missense 0.00000829
257. 47359085 c.2459G>A p.R820Q missense 0.00001657
258. 47359074 c.2470G>A p.D824N missense 0.00000829
259. 47359062 c.2482G>C p.E828Q missense 0.00000829
260. 47359055 c.2489G>A p.S830N missense 0.00000829
261. 47359054 c.2490_2491insT p.His831SerfsTer2 frameshift 0.00002486
262. 47359053 c.2491C>T p.H831Y missense 0.00000829
263. 47359044 c.2500C>T p.R834W missense 0.00001658
264. 47359043 c.2501G>A p.R834Q missense 0.00002487
265. 47359041 c.2503C>T p.R835C missense 0.00002487
266. 47359041 c.2503C>A p.R835S missense 0.00000829
267. 47359040 c.2504G>T p.R835L missense 0.00007462
268. 47359040 c.2504G>A p.R835H missense 0.00000829
269. 47359032 c.2512G>C p.E838Q missense 0.00002489
270. 47359026 c.2518G>A p.V840M missense 0.00001660
271. 47359008 c.2536G>A p.V846I missense 0.00000833
272. 47359005 c.2539T>C p.Y847H missense 0.00000834
273. 47359002 c.2542G>A p.A848T missense 0.00000836
274. 47359001 c.2543C>T p.A848V missense 0.00000836
275. 47358992 c.2552C>T p.A851V missense 0.00006771
276. 47358989 c.2555_2556insT p.Gly853ArgfsTer31 frameshift 0.00000850
277. 47358987 c.2557G>A p.G853S missense 0.00000853
278. 47358987 c.2557G>T p.G853C missense 0.00000853
279. 47358984 c.2560A>T p.M854L missense 0.00000856
280. 47358982 c.2562G>A p.M854I missense 0.00003438
281. 47358976 c.2568G>T p.R856S missense 0.00000868
282. 47358974 c.2570C>T p.P857L missense 0.00000870
283. 47358968 c.2576C>T p.P859L missense 0.00000879
284. 47358945 c.2599A>G p.I867V missense 0.00000913
285. 47358942 c.2602G>A p.G868S missense 0.00003676
286. 47357547 c.2618C>T p.P873L missense 0.00003119
287. 47357544 c.2621C>T p.T874I missense 0.00003120
288. 47357541 c.2624A>T p.H875L missense 0.00001586
289. 47357524 c.2641G>A p.V881I missense 0.00001863
290. 47357511 c.2654C>T p.T885M missense 0.00002217
291. 47357497 c.2668T>G p.W890G missense 0.00002842
292. 47357494 c.2671C>T p.R891W missense 0.00003138
293. 47357493 c.2672G>A p.R891Q missense 0.00009653
294. 47357482 c.2683C>T p.R895C missense 0.00004034
295. 47357472 c.2693C>T p.A898V missense 0.00004925
296. 47357463 c.2702T>C p.L901P missense 0.00005258
297. 47357442 c.2723A>G p.Y908C missense 0.00006277
298. 47356733 c.2765G>A p.G922E missense 0.00002534
299. 47356727 c.2771C>T p.T924I missense 0.00009262
300. 47356715 c.2783C>T p.S928L missense 0.00000840
301. 47356698 c.2800C>G p.L934V missense 0.00000840
302. 47356691 c.2807C>T p.T936M missense 0.00005891
303. 47356686 c.2812G>T p.A938S missense 0.00000843
304. 47356683 c.2815C>T p.R939W missense 0.00003379
305. 47356676 c.2822T>C p.L941P missense 0.00000848
306. 47356671 c.2827C>T p.R943X nonsense 0.00001700
307. 47356670 c.2828G>A p.R943Q missense 0.00002554
308. 47356665 c.2833C>T p.R945W missense 0.00000857
309. 47356658 c.2840A>G p.H947R missense 0.00000864
310. 47356657 c.2841C>A p.H947Q missense 0.00000865
311. 47356625 c.2873C>T p.T958I missense 0.00006506
312. 47356622 c.2876C>T p.T959M missense 0.00000939
313. 47356616 c.2882C>T p.P961L missense 0.00004813
314. 47356614 c.2884G>C p.V962L missense 0.00001953
315. 47356607 c.2891T>C p.V964A missense 0.00001001
316. 47356604 c.2894A>G p.Q965R missense 0.00001016
317. 47355559 c.2908C>T p.R970W missense 0.00006633
318. 47355558 c.2909G>A p.R970Q missense 0.00003251
319. 47355552 c.2915G>A p.R972Q missense 0.00006566
320. 47355529 c.2938C>T p.R980C missense 0.00006245
321. 47355505 c.2962G>A p.G988R missense 0.00003264
322. 47355483 c.2984T>A p.I995N missense 0.00003507
323. 47355293 c.3005G>A p.R1002Q missense 0.00004654
324. 47355281 c.3017C>A p.T1006N missense 0.00000891
325. 47355267 c.3031G>A p.G1011R missense 0.00000873
326. 47355255 c.3043G>A p.A1015T missense 0.00000859
327. 47355249 c.3049G>A p.E1017K missense 0.00008516
328. 47355246 c.3052G>C p.E1018Q missense 0.00001699
329. 47355234 c.3064C>T p.R1022C missense 0.00000840
330. 47355233 c.3065G>C p.R1022P missense 0.00002520
331. 47355231 c.3067A>G p.N1023D missense 0.00000838
332. 47355226 c.3072C>A p.S1024R missense 0.00002509
333. 47355219 c.3079G>C p.D1027H missense 0.00000834
334. 47355201 c.3097C>T p.R1033W missense 0.00000831
335. 47355195 c.3103G>A p.A1035T missense 0.00006646
336. 47355191 c.3107G>A p.R1036H missense 0.00005813
337. 47355189 c.3109C>T p.R1037C missense 0.00001661
338. 47355189 c.3109C>G p.R1037G missense 0.00000830
339. 47355188 c.3110G>A p.R1037H missense 0.00000830
340. 47355186 c.3112G>A p.V1038M missense 0.00001660
341. 47355185 c.3113T>A p.V1038E missense 0.00001660
342. 47355176 c.3122G>A p.G1041D missense 0.00000830
343. 47355171 c.3127T>A p.Y1043N missense 0.00000830
344. 47355171 c.3127T>C p.Y1043H missense 0.00000830
345. 47355161 c.3137C>T p.T1046M missense 0.00005814
346. 47355156 c.3142C>T p.R1048C missense 0.00001662
347. 47355155 c.3143G>A p.R1048H missense 0.00001662
348. 47355150 c.3148G>A p.E1050K missense 0.00008312
349. 47355146 c.3152A>G p.N1051S missense 0.00000832
350. 47355144 c.3154A>G p.M1052V missense 0.00003327
351. 47355130 c.3168delC p.Thr1057ArgfsTer18 frameshift 0.00000834
352. 47355128 c.3170C>T p.T1057M missense 0.00000834
353. 47355123 c.3175G>C p.V1059L missense 0.00000835
354. 47355117 c.3181C>T p.Q1061X nonsense 0.00001675
355. 47355106 c.3190+2T>G essential splice site 0.00001689
356. 47354858 c.3217C>T p.R1073W missense 0.00004906
357. 47354852 c.3223A>G p.T1075A missense 0.00004691
358. 47354846 c.3229G>T p.A1077S missense 0.00002307
359. 47354843 c.3232T>C p.W1078R missense 0.00002276
360. 47354842 c.3233G>A p.W1078X nonsense 0.00002270
361. 47354833 c.3242A>C p.N1081T missense 0.00002220
362. 47354818 c.3257G>A p.W1086X nonsense 0.00002179
363. 47354801 c.3274G>A p.V1092I missense 0.00008328
364. 47354798 c.3277G>T p.G1093C missense 0.00002053
365. 47354791 c.3284C>T p.T1095M missense 0.00005818
366. 47354789 c.3286G>A p.E1096K missense 0.00003820
367. 47354776 c.3299A>T p.Y1100F missense 0.00001566
368. 47354759 c.3316G>A p.D1106N missense 0.00006115
369. 47354752 c.3323A>C p.K1108T missense 0.00004531
370. 47354752 c.3323_3325delAGA p.Lys1108del inframe 0.00001513
371. 47354751 c.3324G>C p.K1108N missense 0.00001512
372. 47354520 c.3335_3337dupGGT p.Trp1112dup inframe 0.00002298
373. 47354509 c.3346T>G p.L1116V missense 0.00001136
374. 47354497 c.3358C>T p.R1120C missense 0.00003386
375. 47354494 c.3361C>T p.R1121C missense 0.00002264
376. 47354484 c.3371G>A p.C1124Y missense 0.00001133
377. 47354483 c.3372C>A p.C1124X nonsense 0.00002275
378. 47354482 c.3373G>A p.V1125M missense 0.00002276
379. 47354482 c.3373G>T p.V1125L missense 0.00001138
380. 47354472 c.3383A>C p.E1128A missense 0.00001151
381. 47354443 c.3412C>T p.R1138C missense 0.00003719
382. 47354440 c.3415G>A p.V1139I missense 0.00008754
383. 47354413 c.3442A>G p.S1148G missense 0.00001286
384. 47354413 c.3442A>C p.S1148R missense 0.00001286
385. 47354406 c.3449G>A p.R1150K missense 0.00001298
386. 47354403 c.3452C>T p.A1151V missense 0.00007889
387. 47354401 c.3454G>T p.A1152S missense 0.00001318
388. 47354398 c.3457A>T p.T1153S missense 0.00001315
389. 47354394 c.3461C>T p.T1154I missense 0.00001321
390. 47354392 c.3463A>G p.K1155E missense 0.00001323
391. 47354385 c.3470C>T p.P1157L missense 0.00009378
392. 47354232 c.3512A>G p.N1171S missense 0.00002141
393. 47354226 c.3518_3520delAGG p.Lys1173_Ala1174delinsThr inframe 0.00001015
394. 47354221 c.3523C>G p.L1175V missense 0.00001009
395. 47354176 c.3568C>T p.R1190C missense 0.00000841
396. 47354175 c.3569G>A p.R1190H missense 0.00005870
397. 47354175 c.3569G>T p.R1190L missense 0.00000839
398. 47354172 c.3572C>T p.S1191L missense 0.00001675
399. 47354164 c.3580G>A p.A1194T missense 0.00000835
400. 47354163 c.3581C>T p.A1194V missense 0.00008342
401. 47354131 c.3613C>T p.R1205W missense 0.00001673
402. 47354130 c.3614G>A p.R1205Q missense 0.00001674
403. 47354124 c.3620G>T p.S1207I missense 0.00000840
404. 47353795 c.3642G>A p.W1214X nonsense 0.00000830
405. 47353770 c.3667G>A p.E1223K missense 0.00000829
406. 47353769 c.3668A>G p.E1223G missense 0.00000829
407. 47353767 c.3670G>A p.D1224N missense 0.00000829
408. 47353761 c.3676C>T p.R1226C missense 0.00005805
409. 47353754 c.3683G>A p.R1228H missense 0.00001659
410. 47353740 c.3697C>T p.Q1233X nonsense 0.00000829
411. 47353722 c.3715G>A p.E1239K missense 0.00001659
412. 47353695 c.3742G>A p.G1248R missense 0.00003324
413. 47353687 c.3750C>G p.I1250M missense 0.00001663
414. 47353674 c.3763G>A p.A1255T missense 0.00007504
415. 47353670 c.3767C>T p.T1256I missense 0.00000834
416. 47353660 c.3777G>C p.Q1259H missense 0.00000836
417. 47353656 c.3781G>A p.E1261K missense 0.00001676
418. 47353650 c.3787C>T p.R1263W missense 0.00003362
419. 47353649 c.3788G>A p.R1263Q missense 0.00000841
420. 47353646 c.3791G>A p.C1264Y missense 0.00000842
421. 47353638 c.3799C>T p.R1267C missense 0.00000846
422. 47353637 c.3800G>A p.R1267H missense 0.00004239
423. 47353626 c.3811C>T p.R1271X nonsense 0.00002571
424. 47353625 c.3812G>A p.R1271Q missense 0.00000858

* 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.