MYBPC3 variants in ExAC


The table below lists the MYBPC3 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. 0 c.506-12delC splice site 0.68791751
2. 47370041 c.706A>G p.S236G missense 0.10789469
3. 47357416 c.2737+12C>T splice site 0.10085737
4. 47371598 c.472G>A p.V158M missense 0.09043291
5. 47357479 c.2686G>A p.V896M missense 0.01275116
6. 47363535 c.1790+7G>A splice site 0.00602362
7. 47367871 c.977G>A p.R326Q missense 0.00550616
8. 47355475 c.2992C>G p.Q998E missense 0.00523636
9. 47358943 c.2601C>T p.I867I splice site 0.00462683
10. 47365122 c.1144C>T p.R382W missense 0.00421847
11. 47369220 c.833G>A p.G278E missense 0.00294861
12. 47371414 c.565G>A p.V189I missense 0.00279596
13. 47371330 c.649A>G p.S217G missense 0.00226757
14. 47359046 c.2498C>T p.A833V missense 0.00222141
15. 47359047 c.2497G>A p.A833T missense 0.00168250
16. 47371592 c.478C>T p.R160W missense 0.00161611
17. 47354442 c.3413G>A p.R1138H missense 0.00130344
18. 47360235 c.2149-5C>T splice site 0.00127947
19. 47356628 c.2870C>G p.T957S missense 0.00109197
20. 47354463 c.3392T>C p.I1131T missense 0.00106351
21. 47371449 c.530G>A p.R177H missense 0.00094933
22. 47362731 c.1855G>A p.E619K missense 0.00078456
23. 47364234 c.1519G>A p.G507R missense 0.00067944
24. 47355294 c.3004C>T p.R1002W missense 0.00067147
25. 47368195 c.909C>T p.D303D splice site 0.00061428
26. 47357551 c.2614G>A p.E872K missense 0.00058673
27. 47355192 c.3106C>T p.R1036C missense 0.00051498
28. 47371568 c.502G>A p.V168M missense 0.00046662
29. 47367887 c.961G>A p.V321M missense 0.00046250
30. 47354209 c.3535G>A p.E1179K missense 0.00045916
31. 47355553 c.2914C>T p.R972W missense 0.00043192
32. 47364189 c.1564G>A p.A522T missense 0.00039070
33. 47357437 c.2728C>A p.P910T missense 0.00039057
34. 47371630 c.440C>T p.P147L missense 0.00037863
35. 47371333 c.646G>A p.A216T missense 0.00036544
36. 47368170 c.926+8C>T splice site 0.00034935
37. 47367848 c.1000G>A p.E334K missense 0.00033786
38. 47371575 c.495G>C p.E165D missense 0.00033625
39. 47359103 c.2441_2443delAGA inframe 0.00032354
40. 47374186 c.13G>C p.G5R missense 0.00030073
41. 47368587 c.906-7G>T splice site 0.00027619
42. 47361266 c.2003G>A p.R668H missense 0.00026959
43. 47363546 c.1786G>A p.G596R missense 0.00026219
44. 47372898 c.184A>C p.T62P missense 0.00026031
45. 47369442 c.787G>A p.G263R missense 0.00023441
46. 47371314 c.654+11C>T splice site 0.00022461
47. 47359273 c.2381C>T p.P794L missense 0.00021629
48. 47353755 c.3682C>T p.R1228C missense 0.00021562
49. 47364285 c.1468G>A p.G490R missense 0.00020767
50. 47355487 c.2980C>T p.L994F missense 0.00020756
51. 47364637 c.1286C>T p.A429V missense 0.00020652
52. 47373000 c.82G>A p.V28M missense 0.00020315
53. 47357547 c.2618C>A p.P873H missense 0.00020272
54. 47371609 c.461T>C p.I154T missense 0.00020195
55. 47364468 c.1370C>T p.T457M missense 0.00019505
56. 47362773 c.1813G>A p.D605N missense 0.00018885
57. 47356737 c.2761C>G p.Q921E missense 0.00017774
58. 47354749 c.3326C>T p.T1109I missense 0.00016647
59. 47357481 c.2684G>A p.R895H missense 0.00016489
60. 47371355 c.624G>C p.Q208H missense 0.00016229
61. 47364602 c.1321G>A p.E441K missense 0.00016221
62. 47371336 c.643C>T p.R215C missense 0.00015476
63. 47354383 c.3472G>A p.V1158I missense 0.00014878
64. 47372097 c.362C>T p.P121L missense 0.00014768
65. 47362772 c.1814A>G p.D605G missense 0.00014643
66. 47373032 c.50G>A p.R17Q missense 0.00014298
67. 47364209 c.1544A>G p.N515S missense 0.00014093
68. 47362764 c.1822C>T p.P608S missense 0.00014057
69. 47372136 c.323C>T p.P108L missense 0.00012904
70. 47354471 c.3384G>C p.E1128D missense 0.00012702
71. 47354493 c.3362G>A p.R1121H missense 0.00012512
72. 47363611 c.1721G>A p.R574Q missense 0.00012206
73. 47370080 c.667G>A p.E223K missense 0.00012033
74. 47357449 c.2716G>A p.V906M missense 0.00011919
75. 47368591 c.906-11_906-9delCTG splice site 0.00010750
76. 47362566 c.1915G>A p.V639I missense 0.00010727
77. 47372154 c.305C>T p.P102L missense 0.00010206
78. 47357493 c.2672G>A p.R891Q missense 0.00009653
79. 47371668 c.407-5C>T splice site 0.00009541
80. 47354385 c.3470C>T p.P1157L missense 0.00009378
81. 47355104 c.3190+4C>T splice site 0.00009315
82. 47356727 c.2771C>T p.T924I missense 0.00009262
83. 47372859 c.223G>A p.D75N missense 0.00009129
84. 47365119 c.1147C>G p.L383V missense 0.00008857
85. 47355301 c.2997C>T p.G999G splice site 0.00008807
86. 47354440 c.3415G>A p.V1139I missense 0.00008754
87. 47369408 c.821C>T p.T274M missense 0.00008578
88. 47360182 c.2197C>T p.R733C missense 0.00008557
89. 47355249 c.3049G>A p.E1017K missense 0.00008516
90. 47371633 c.437C>T p.T146I missense 0.00008443
91. 47371567 c.503T>C p.V168A missense 0.00008420
92. 47369415 c.814C>T p.R272C missense 0.00008379
93. 47372054 c.405A>G splice site 0.00008359
94. 47354163 c.3581C>T p.A1194V missense 0.00008342
95. 47354801 c.3274G>A p.V1092I missense 0.00008328
96. 47355150 c.3148G>A p.E1050K missense 0.00008312
97. 47369430 c.799C>G p.L267V missense 0.00008028
98. 47372978 c.104G>A p.R35Q missense 0.00007909
99. 47367892 c.956A>C p.E319A missense 0.00007891
100. 47354403 c.3452C>T p.A1151V missense 0.00007889
101. 47372988 c.94G>A p.E32K missense 0.00007818
102. 47372895 c.187C>T p.R63W missense 0.00007739
103. 47370063 c.684T>G p.D228E missense 0.00007543
104. 47353674 c.3763G>A p.A1255T missense 0.00007504
105. 47359040 c.2504G>T p.R835L missense 0.00007462
106. 47370034 c.713G>A p.R238H missense 0.00007431
107. 47369211 c.842G>A p.R281Q missense 0.00006987
108. 47365175 c.1091C>T p.A364V missense 0.00006786
109. 47358992 c.2552C>T p.A851V missense 0.00006771
110. 47355195 c.3103G>A p.A1035T missense 0.00006646
111. 47355559 c.2908C>T p.R970W missense 0.00006633
112. 47360110 c.2269G>A p.V757M missense 0.00006633
113. 47355552 c.2915G>A p.R972Q missense 0.00006566
114. 47364138 c.1615A>G p.I539V missense 0.00006519
115. 47356625 c.2873C>T p.T958I missense 0.00006506
116. 47357442 c.2723A>G p.Y908C missense 0.00006277
117. 47371450 c.529C>T p.R177C missense 0.00006270
118. 47355529 c.2938C>T p.R980C missense 0.00006245
119. 47364805 c.1226+6T>C splice site 0.00006195
120. 47362770 c.1816G>A p.V606I missense 0.00006166
121. 47354759 c.3316G>A p.D1106N missense 0.00006115
122. 47355308 c.2995-5C>G splice site 0.00006070
123. 47362763 c.1823C>G p.P608R missense 0.00005938
124. 47356691 c.2807C>T p.T936M missense 0.00005891
125. 47354175 c.3569G>A p.R1190H missense 0.00005870
126. 47362758 c.1828G>C p.D610H missense 0.00005827
127. 47354791 c.3284C>T p.T1095M missense 0.00005818
128. 47355161 c.3137C>T p.T1046M missense 0.00005814
129. 47364282 c.1471G>A p.V491M missense 0.00005813
130. 47355191 c.3107G>A p.R1036H missense 0.00005813
131. 47353761 c.3676C>T p.R1226C missense 0.00005805
132. 47373008 c.74G>A p.S25N missense 0.00005715
133. 47370065 c.682G>A p.D228N missense 0.00005694
134. 47359343 c.2311G>A p.V771M missense 0.00005661
135. 47372795 c.287A>G p.E96G missense 0.00005641
136. 47372979 c.103C>T p.R35W missense 0.00005626
137. 47360238 c.2149-8C>G splice site 0.00005510
138. 47362562 c.1919C>T p.P640L missense 0.00005426
139. 47363612 c.1720C>T p.R574W missense 0.00005411
140. 47359256 c.2398G>A p.G800R missense 0.00005353
141. 47364466 c.1372C>T p.R458C missense 0.00005314
142. 47357463 c.2702T>C p.L901P missense 0.00005258
143. 47369995 c.752A>T p.N251I missense 0.00005201
144. 47373058 c.26-2A>G essential splice site 0.00005114
145. 47360169 c.2210C>T p.T737M missense 0.00005037
146. 47357472 c.2693C>T p.A898V missense 0.00004925
147. 47354858 c.3217C>T p.R1073W missense 0.00004906
148. 47359315 c.2339T>G p.I780S missense 0.00004860
149. 47356616 c.2882C>T p.P961L missense 0.00004813
150. 47371422 c.557C>T p.P186L missense 0.00004764
151. 47359309 c.2345A>G p.N782S missense 0.00004741
152. 47371664 c.407-1G>A essential splice site 0.00004694
153. 47354852 c.3223A>G p.T1075A missense 0.00004691
154. 47355293 c.3005G>A p.R1002Q missense 0.00004654
155. 47364152 c.1601C>T p.A534V missense 0.00004571
156. 47354752 c.3323A>C p.K1108T missense 0.00004531
157. 47371375 c.604A>C p.K202Q missense 0.00004496
158. 47364465 c.1373G>A p.R458H missense 0.00004424
159. 47369397 c.821+11A>T splice site 0.00004415
160. 47372048 c.406+5G>C splice site 0.00004342
161. 47360235 c.2149-5C>G splice site 0.00004337
162. 47369407 c.821+1G>A essential splice site 0.00004310
163. 47372888 c.194C>T p.T65M missense 0.00004280
164. 47371636 c.434C>A p.P145H missense 0.00004276
165. 47369411 c.818G>A p.R273H missense 0.00004268
166. 47362777 c.1809T>G p.I603M missense 0.00004267
167. 47353637 c.3800G>A p.R1267H missense 0.00004239
168. 47364393 c.1445C>T p.A482V missense 0.00004233
169. 47371566 c.504G>A splice site 0.00004213
170. 47369414 c.815G>A p.R272H missense 0.00004210
171. 47371628 c.442G>A p.G148R missense 0.00004201
172. 47370088 c.659A>G p.Y220C missense 0.00004178
173. 47369023 c.859C>T p.H287Y missense 0.00004162
174. 47371624 c.446C>A p.A149D missense 0.00004162
175. 47360063 c.2308+8C>T splice site 0.00004153
176. 47371589 c.481C>A p.P161T missense 0.00004148
177. 47364207 c.1546G>A p.E516K missense 0.00004145
178. 47371619 c.451G>A p.D151N missense 0.00004106
179. 47369424 c.805T>C p.S269P missense 0.00004076
180. 47357482 c.2683C>T p.R895C missense 0.00004034
181. 47369040 c.852-10C>G splice site 0.00004034
182. 47362697 c.1889A>T p.H630L missense 0.00003963
183. 47372894 c.188G>A p.R63Q missense 0.00003933
184. 47362760 c.1826C>T p.A609V missense 0.00003924
185. 47372936 c.146_148delTCA p.Ile49del inframe 0.00003922
186. 47369975 c.772G>A p.E258K missense 0.00003903
187. 47372934 c.148A>G p.S50G missense 0.00003887
188. 47372831 c.251G>A p.G84D missense 0.00003832
189. 47363543 c.1789C>T p.R597W missense 0.00003821
190. 47354789 c.3286G>A p.E1096K missense 0.00003820
191. 47359281 c.2373_2374insG p.Trp792ValfsTer41 frameshift 0.00003782
192. 47364629 c.1294G>A p.A432T missense 0.00003756
193. 47354443 c.3412C>T p.R1138C missense 0.00003719
194. 47362715 c.1871A>G p.N624S missense 0.00003716
195. 47372095 c.364G>A p.A122T missense 0.00003700
196. 47368187 c.917G>A p.R306Q missense 0.00003694
197. 47358942 c.2602G>A p.G868S missense 0.00003676
198. 47371339 c.640G>A p.D214N missense 0.00003634
199. 47372951 c.131G>A p.R44H missense 0.00003633
200. 47360203 c.2176C>T p.R726C missense 0.00003633
201. 47369236 c.822-5C>T splice site 0.00003631
202. 47360202 c.2177G>A p.R726H missense 0.00003627
203. 47369234 c.822-3C>T splice site 0.00003619
204. 47360200 c.2179G>A p.V727M missense 0.00003605
205. 47371381 c.598A>G p.S200G missense 0.00003600
206. 47369231 c.822G>A splice site 0.00003579
207. 47364475 c.1363C>T p.L455F missense 0.00003567
208. 47355483 c.2984T>A p.I995N missense 0.00003507
209. 47372960 c.122G>A p.R41H missense 0.00003504
210. 47372961 c.121C>T p.R41C missense 0.00003493
211. 47369208 c.845G>A p.R282Q missense 0.00003483
212. 47363554 c.1778C>T p.S593F missense 0.00003456
213. 47358982 c.2562G>A p.M854I missense 0.00003438
214. 47360181 c.2198G>A p.R733H missense 0.00003404
215. 47372975 c.107C>A p.A36E missense 0.00003394
216. 47372844 c.238G>A p.A80T missense 0.00003389
217. 47363699 c.1633C>A p.L545M missense 0.00003388
218. 47354497 c.3358C>T p.R1120C missense 0.00003386
219. 47356683 c.2815C>T p.R939W missense 0.00003379
220. 47353650 c.3787C>T p.R1263W missense 0.00003362
221. 47374188 c.11C>T p.P4L missense 0.00003343
222. 47364300 c.1458-5G>A splice site 0.00003328
223. 47355144 c.3154A>G p.M1052V missense 0.00003327
224. 47353695 c.3742G>A p.G1248R missense 0.00003324
225. 47359115 c.2429G>A p.R810H missense 0.00003319
226. 47360101 c.2278G>C p.D760H missense 0.00003316
227. 47360946 c.2077G>T p.A693S missense 0.00003313
228. 47363559 c.1773G>T p.K591N missense 0.00003300
229. 47355505 c.2962G>A p.G988R missense 0.00003264
230. 47355558 c.2909G>A p.R970Q missense 0.00003251
231. 47357494 c.2671C>T p.R891W missense 0.00003138
232. 47357544 c.2621C>T p.T874I missense 0.00003120
233. 47357547 c.2618C>T p.P873L missense 0.00003119
234. 47354740 c.3330+5G>C splice site 0.00003052
235. 47354888 c.3191-4G>A splice site 0.00003027
236. 47360215 c.2164G>A p.E722K missense 0.00002917
237. 47364677 c.1246G>A p.G416S missense 0.00002898
238. 47362546 c.1927+8T>C splice site 0.00002892
239. 47357497 c.2668T>G p.W890G missense 0.00002842
240. 47365154 c.1112C>T p.P371L missense 0.00002829
241. 47364632 c.1291G>A p.D431N missense 0.00002811
242. 47372931 c.151G>T p.A51S missense 0.00002664
243. 47367827 c.1021G>A p.G341S missense 0.00002584
244. 47363715 c.1625-8C>G splice site 0.00002574
245. 47353626 c.3811C>T p.R1271X nonsense 0.00002571
246. 47356670 c.2828G>A p.R943Q missense 0.00002554
247. 47360181 c.2198G>T p.R733L missense 0.00002553
248. 47372937 c.145A>T p.I49F missense 0.00002551
249. 47360179 c.2200A>G p.S734G missense 0.00002548
250. 47356733 c.2765G>A p.G922E missense 0.00002534
251. 47363668 c.1664T>C p.M555T missense 0.00002529
252. 47362795 c.1791G>C splice site 0.00002522
253. 47355233 c.3065G>C p.R1022P missense 0.00002520
254. 47355226 c.3072C>A p.S1024R missense 0.00002509
255. 47372876 c.206G>A p.R69Q missense 0.00002494
256. 47364188 c.1565C>T p.A522V missense 0.00002494
257. 47360137 c.2242G>A p.V748I missense 0.00002490
258. 47359032 c.2512G>C p.E838Q missense 0.00002489
259. 47360130 c.2249C>T p.T750M missense 0.00002489
260. 47360072 c.2307C>T splice site 0.00002489
261. 47360104 c.2275G>A p.E759K missense 0.00002487
262. 47359043 c.2501G>A p.R834Q missense 0.00002487
263. 47359041 c.2503C>T p.R835C missense 0.00002487
264. 47364249 c.1504C>T p.R502W missense 0.00002486
265. 47359054 c.2490_2491insT p.His831SerfsTer2 frameshift 0.00002486
266. 47364129 c.1624G>C p.E542Q missense 0.00002485
267. 47360869 c.2148+6_2148+9delTGAG splice site 0.00002484
268. 47372949 c.133G>A p.G45R missense 0.00002442
269. 47372952 c.130C>T p.R44C missense 0.00002413
270. 47373036 c.46C>T p.P16S missense 0.00002408
271. 47373033 c.49C>T p.R17W missense 0.00002399
272. 47373032 c.50G>T p.R17L missense 0.00002383
273. 47353398 c.*24C>A splice site 0.00002350
274. 47368996 c.886A>G p.S296G missense 0.00002340
275. 47373015 c.67G>A p.A23T missense 0.00002310
276. 47354846 c.3229G>T p.A1077S missense 0.00002307
277. 47354520 c.3335_3337dupGGT p.Trp1112dup inframe 0.00002298
278. 47373009 c.73A>T p.S25C missense 0.00002279
279. 47354482 c.3373G>A p.V1125M missense 0.00002276
280. 47354843 c.3232T>C p.W1078R missense 0.00002276
281. 47354483 c.3372C>A p.C1124X nonsense 0.00002275
282. 47354842 c.3233G>A p.W1078X nonsense 0.00002270
283. 47354494 c.3361C>T p.R1121C missense 0.00002264
284. 47354833 c.3242A>C p.N1081T missense 0.00002220
285. 47357511 c.2654C>T p.T885M missense 0.00002217
286. 47361236 c.2033C>A p.A678D missense 0.00002214
287. 47360238 c.2149-8C>T splice site 0.00002204
288. 47361197 c.2067+5T>G splice site 0.00002193
289. 47367872 c.976C>T p.R326W missense 0.00002182
290. 47354818 c.3257G>A p.W1086X nonsense 0.00002179
291. 47354232 c.3512A>G p.N1171S missense 0.00002141
292. 47367924 c.927-3C>T splice site 0.00002139
293. 47359235 c.2413+6T>C splice site 0.00002112
294. 47362773 c.1813_1814insCG p.D605Afs*59 frameshift 0.00002092
295. 47359234 c.2413+7G>A splice site 0.00002084
296. 47354798 c.3277G>T p.G1093C missense 0.00002053
297. 47371447 c.532G>A p.V178M missense 0.00002045
298. 47369031 c.852-1G>T essential splice site 0.00002037
299. 47365055 c.1211A>C p.Q404P missense 0.00002032
300. 47362766 c.1820C>T p.T607I missense 0.00002017
301. 47371438 c.541G>A p.A181T missense 0.00001981
302. 47365183 c.1091-8G>A splice site 0.00001971
303. 47364701 c.1227-5C>A splice site 0.00001970
304. 47356614 c.2884G>C p.V962L missense 0.00001953
305. 47364667 c.1256G>A p.R419H missense 0.00001918
306. 47371425 c.554A>G p.K185R missense 0.00001905
307. 47371426 c.553A>C p.K185Q missense 0.00001904
308. 47360209 c.2170C>T p.R724W missense 0.00001900
309. 47361206 c.2063C>A p.T688K missense 0.00001872
310. 47357524 c.2641G>A p.V881I missense 0.00001863
311. 47367845 c.1003C>T p.R335C missense 0.00001848
312. 47368180 c.924G>A splice site 0.00001842
313. 47368177 c.926+1G>A essential splice site 0.00001840
314. 47370047 c.700A>G p.T234A missense 0.00001838
315. 47362719 c.1867T>A p.C623S missense 0.00001835
316. 47364614 c.1309G>T p.V437L missense 0.00001822
317. 47371335 c.644G>A p.R215H missense 0.00001822
318. 47364607 c.1316G>A p.G439D missense 0.00001808
319. 47364491 c.1352-5G>C splice site 0.00001798
320. 0 c.906-12_906-11insCTG splice site 0.00001792
321. 47368588 c.906-8T>C splice site 0.00001792
322. 47364477 c.1361T>C p.V454A missense 0.00001780
323. 47364162 c.1591G>A p.G531R missense 0.00001732
324. 47364162 c.1591G>C p.G531R missense 0.00001732
325. 47364405 c.1433C>T p.S478L missense 0.00001702
326. 47356671 c.2827C>T p.R943X nonsense 0.00001700
327. 47355246 c.3052G>C p.E1018Q missense 0.00001699
328. 47355103 c.3190+5G>A splice site 0.00001696
329. 47355106 c.3190+2T>G essential splice site 0.00001689
330. 47367809 c.1039G>A p.G347S missense 0.00001688
331. 47361267 c.2002C>T p.R668C missense 0.00001680
332. 47353656 c.3781G>A p.E1261K missense 0.00001676
333. 47354172 c.3572C>T p.S1191L missense 0.00001675
334. 47355117 c.3181C>T p.Q1061X nonsense 0.00001675
335. 47354130 c.3614G>A p.R1205Q missense 0.00001674
336. 47354131 c.3613C>T p.R1205W missense 0.00001673
337. 47367774 c.1074T>A p.D358E missense 0.00001671
338. 47367778 c.1070G>A p.R357H missense 0.00001671
339. 47364302 c.1458-7C>T splice site 0.00001667
340. 47353687 c.3750C>G p.I1250M missense 0.00001663
341. 47374165 c.25+9A>G splice site 0.00001663
342. 47355156 c.3142C>T p.R1048C missense 0.00001662
343. 47355155 c.3143G>A p.R1048H missense 0.00001662
344. 47355189 c.3109C>T p.R1037C missense 0.00001661
345. 47364281 c.1472T>G p.V491G missense 0.00001660
346. 47355186 c.3112G>A p.V1038M missense 0.00001660
347. 47359026 c.2518G>A p.V840M missense 0.00001660
348. 47355185 c.3113T>A p.V1038E missense 0.00001660
349. 47361331 c.1938G>C p.K646N missense 0.00001660
350. 47353722 c.3715G>A p.E1239K missense 0.00001659
351. 47360079 c.2300A>G p.K767R missense 0.00001659
352. 47353754 c.3683G>A p.R1228H missense 0.00001659
353. 47361296 c.1973C>T p.T658I missense 0.00001659
354. 47364199 c.1554G>A p.M518I missense 0.00001659
355. 47359044 c.2500C>T p.R834W missense 0.00001658
356. 47359105 c.2439G>C p.K813N missense 0.00001658
357. 47359094 c.2450G>A p.R817Q missense 0.00001657
358. 47359085 c.2459G>A p.R820Q missense 0.00001657
359. 47360889 c.2134G>T p.V712L missense 0.00001656
360. 47360904 c.2119G>A p.D707N missense 0.00001656
361. 47360924 c.2099A>T p.D700V missense 0.00001656
362. 47361213 c.2056G>C p.A686P missense 0.00001637
363. 47361213 c.2056G>A p.A686T missense 0.00001637
364. 47357541 c.2624A>T p.H875L missense 0.00001586
365. 47354776 c.3299A>T p.Y1100F missense 0.00001566
366. 47354752 c.3323_3325delAGA p.Lys1108del inframe 0.00001513
367. 47354751 c.3324G>C p.K1108N missense 0.00001512
368. 47372916 c.166G>A p.G56S missense 0.00001500
369. 47357567 c.2603-5C>A splice site 0.00001500
370. 47357570 c.2603-8C>T splice site 0.00001495
371. 47354362 c.3490+3_3490+7delGCTGT splice site 0.00001488
372. 47369966 c.772+9G>T splice site 0.00001483
373. 47354359 c.3490+6G>A splice site 0.00001476
374. 47354362 c.3490+3G>A splice site 0.00001461
375. 47367899 c.949G>A p.A317T missense 0.00001421
376. 47364125 c.1624+4A>T splice site 0.00001347
377. 47372930 c.152C>T p.A51V missense 0.00001337
378. 47372931 c.151G>A p.A51T missense 0.00001332
379. 47354392 c.3463A>G p.K1155E missense 0.00001323
380. 47354394 c.3461C>T p.T1154I missense 0.00001321
381. 47354401 c.3454G>T p.A1152S missense 0.00001318
382. 47354398 c.3457A>T p.T1153S missense 0.00001315
383. 47365086 c.1180G>A p.V394I missense 0.00001298
384. 47354406 c.3449G>A p.R1150K missense 0.00001298
385. 47371467 c.512G>A p.S171N missense 0.00001288
386. 47354413 c.3442A>C p.S1148R missense 0.00001286
387. 47354413 c.3442A>G p.S1148G missense 0.00001286
388. 47367888 c.960C>G p.D320E missense 0.00001278
389. 47373055 c.27C>A splice site 0.00001265
390. 47367887 c.961G>C p.V321L missense 0.00001250
391. 47361228 c.2041G>A p.V681M missense 0.00001248
392. 47363606 c.1726G>A p.V576M missense 0.00001222
393. 47364130 c.1623G>C p.Q541H missense 0.00001221
394. 47364130 c.1623G>A splice site 0.00001221
395. 47373041 c.41A>G p.K14R missense 0.00001212
396. 47354252 c.3492C>T splice site 0.00001211
397. 0 c.*26+8C>T splice site 0.00001197
398. 47367878 c.970A>T p.I324F missense 0.00001153
399. 47365095 c.1171G>T p.D391Y missense 0.00001152
400. 47354472 c.3383A>C p.E1128A missense 0.00001151
401. 47372964 c.118G>A p.V40M missense 0.00001150
402. 47372965 c.117G>T p.K39N missense 0.00001148
403. 47354482 c.3373G>T p.V1125L missense 0.00001138
404. 47354509 c.3346T>G p.L1116V missense 0.00001136
405. 47354484 c.3371G>A p.C1124Y missense 0.00001133
406. 47372984 c.98_99delCA p.Thr33ArgfsTer15 frameshift 0.00001118
407. 47372988 c.94G>C p.E32Q missense 0.00001117
408. 47372994 c.88G>A p.E30K missense 0.00001113
409. 47372991 c.91G>A p.A31T missense 0.00001112
410. 47360233 c.2149-3C>T splice site 0.00001091
411. 47356594 c.2904G>C splice site 0.00001089
412. 47353431 c.3816G>A splice site 0.00001086
413. 47353440 c.3815-8T>C splice site 0.00001075
414. 47370092 c.655G>T p.V219F missense 0.00001064
415. 47371452 c.527C>G p.A176G missense 0.00001044
416. 47371452 c.527C>T p.A176V missense 0.00001044
417. 47364818 c.1224-5T>C splice site 0.00001040
418. 47356604 c.2894A>G p.Q965R missense 0.00001016
419. 47354226 c.3518_3520delAGG p.Lys1173_Ala1174delinsThr inframe 0.00001015
420. 47365113 c.1153G>A p.V385M missense 0.00001011
421. 47354221 c.3523C>G p.L1175V missense 0.00001009
422. 47370001 c.746G>A p.C249Y missense 0.00001009
423. 47370002 c.745T>C p.C249R missense 0.00001003
424. 47356607 c.2891T>C p.V964A missense 0.00001001
425. 47364709 c.1227-13G>A splice site 0.00000998
426. 47371441 c.538G>A p.G180S missense 0.00000996
427. 47364700 c.1227-4C>G splice site 0.00000985
428. 47360218 c.2161A>T p.T721S missense 0.00000983
429. 47364697 c.1227-1_1228dupGGT p.Lys409_Tyr410insTrp inframe 0.00000977
430. 47365121 c.1145G>A p.R382Q missense 0.00000975
431. 47365122 c.1144delC p.Arg382GlyfsTer2 frameshift 0.00000975
432. 47360215 c.2164G>C p.E722Q missense 0.00000972
433. 47365123 c.1143_1144insTC p.Arg382SerfsTer3 frameshift 0.00000970
434. 47367854 c.994G>A p.E332K missense 0.00000970
435. 47364667 c.1256G>C p.R419P missense 0.00000959
436. 47364668 c.1255C>T p.R419C missense 0.00000959
437. 47365166 c.1100A>G p.K367R missense 0.00000956
438. 47365165 c.1101G>T p.K367N missense 0.00000955
439. 47365133 c.1133G>C p.G378A missense 0.00000950
440. 47356622 c.2876C>T p.T959M missense 0.00000939
441. 47365143 c.1123G>A p.V375M missense 0.00000939
442. 47365146 c.1120C>A p.Q374K missense 0.00000938
443. 47371315 c.654+10C>T splice site 0.00000931
444. 47371317 c.654+8C>A splice site 0.00000929
445. 47371411 c.568A>G p.K190E missense 0.00000928
446. 47368188 c.916C>T p.R306W missense 0.00000925
447. 47370035 c.712C>T p.R238C missense 0.00000925
448. 47371321 c.654+4G>A splice site 0.00000924
449. 47371406 c.573G>T p.W191C missense 0.00000923
450. 47368174 c.926+4A>G splice site 0.00000919
451. 47358945 c.2599A>G p.I867V missense 0.00000913
452. 47364614 c.1309G>A p.V437M missense 0.00000911
453. 47361251 c.2018T>C p.I673T missense 0.00000909
454. 47367842 c.1006A>T p.I336F missense 0.00000905
455. 47371345 c.634A>G p.S212G missense 0.00000903
456. 47371348 c.631G>A p.D211N missense 0.00000903
457. 47364604 c.1319G>A p.G440D missense 0.00000902
458. 47364154 c.1599G>C p.Q533H missense 0.00000900
459. 47364491 c.1352-5G>A splice site 0.00000899
460. 47367839 c.1009G>A p.A337T missense 0.00000899
461. 47364481 c.1357C>G p.P453A missense 0.00000895
462. 47364480 c.1358C>T p.P453L missense 0.00000895
463. 47355281 c.3017C>A p.T1006N missense 0.00000891
464. 47364589 c.1334C>T p.T445M missense 0.00000890
465. 47368581 c.906-1G>C essential splice site 0.00000884
466. 47364158 c.1595G>A p.G532D missense 0.00000882
467. 47364463 c.1375C>T p.P459S missense 0.00000882
468. 47364568 c.1351+4G>A splice site 0.00000880
469. 47358968 c.2576C>T p.P859L missense 0.00000879
470. 47355267 c.3031G>A p.G1011R missense 0.00000873
471. 47360191 c.2188A>C p.T730P missense 0.00000872
472. 47358974 c.2570C>T p.P857L missense 0.00000870
473. 47358976 c.2568G>T p.R856S missense 0.00000868
474. 47356764 c.2738-4C>A splice site 0.00000867
475. 47356766 c.2738-6C>A splice site 0.00000867
476. 47364441 c.1397T>A p.M466K missense 0.00000867
477. 47360190 c.2189C>T p.T730I missense 0.00000866
478. 47356657 c.2841C>A p.H947Q missense 0.00000865
479. 47356658 c.2840A>G p.H947R missense 0.00000864
480. 47364433 c.1405C>G p.Q469E missense 0.00000863
481. 47364429 c.1409G>A p.R470Q missense 0.00000862
482. 47363647 c.1685C>T p.A562V missense 0.00000860
483. 47353624 c.3813A>G splice site 0.00000859
484. 47355255 c.3043G>A p.A1015T missense 0.00000859
485. 47353625 c.3812G>A p.R1271Q missense 0.00000858
486. 47356665 c.2833C>T p.R945W missense 0.00000857
487. 47363714 c.1625-7C>A splice site 0.00000856
488. 47358984 c.2560A>T p.M854L missense 0.00000856
489. 47364415 c.1423T>C p.C475R missense 0.00000854
490. 47364164 c.1589G>A p.S530N missense 0.00000854
491. 47358987 c.2557G>A p.G853S missense 0.00000853
492. 47358987 c.2557G>T p.G853C missense 0.00000853
493. 47363654 c.1678G>C p.D560H missense 0.00000852
494. 47358989 c.2555_2556insT p.Gly853ArgfsTer31 frameshift 0.00000850
495. 47363660 c.1672G>A p.A558T missense 0.00000848
496. 47356676 c.2822T>C p.L941P missense 0.00000848
497. 47364396 c.1442G>A p.G481E missense 0.00000847
498. 47353638 c.3799C>T p.R1267C missense 0.00000846
499. 47363693 c.1639delG p.Val547CysfsTer8 frameshift 0.00000845
500. 47363693 c.1639G>A p.V547M missense 0.00000845
501. 47355105 c.3190+3G>A splice site 0.00000845
502. 47356686 c.2812G>T p.A938S missense 0.00000843
503. 47353646 c.3791G>A p.C1264Y missense 0.00000842
504. 47367810 c.1038_1042dupCGGCA frameshift 0.00000842
505. 47354176 c.3568C>T p.R1190C missense 0.00000841
506. 47353649 c.3788G>A p.R1263Q missense 0.00000841
507. 47354124 c.3620G>T p.S1207I missense 0.00000840
508. 47356715 c.2783C>T p.S928L missense 0.00000840
509. 47356698 c.2800C>G p.L934V missense 0.00000840
510. 47355234 c.3064C>T p.R1022C missense 0.00000840
511. 47364173 c.1580T>C p.L527P missense 0.00000839
512. 47367750 c.1090+8C>T splice site 0.00000839
513. 47354175 c.3569G>T p.R1190L missense 0.00000839
514. 47355231 c.3067A>G p.N1023D missense 0.00000838
515. 47374196 c.3G>A p.Met1? missense 0.00000838
516. 47367764 c.1084A>G p.S362G missense 0.00000836
517. 47359001 c.2543C>T p.A848V missense 0.00000836
518. 47353660 c.3777G>C p.Q1259H missense 0.00000836
519. 47367766 c.1082_1084delAGA p.Lys361del inframe 0.00000836
520. 47359002 c.2542G>A p.A848T missense 0.00000836
521. 47361270 c.1999C>A p.L667I missense 0.00000836
522. 47354164 c.3580G>A p.A1194T missense 0.00000835
523. 47367776 c.1072G>A p.D358N missense 0.00000835
524. 47355123 c.3175G>C p.V1059L missense 0.00000835
525. 47355128 c.3170C>T p.T1057M missense 0.00000834
526. 47353670 c.3767C>T p.T1256I missense 0.00000834
527. 47355130 c.3168delC p.Thr1057ArgfsTer18 frameshift 0.00000834
528. 47359005 c.2539T>C p.Y847H missense 0.00000834
529. 47355219 c.3079G>C p.D1027H missense 0.00000834
530. 47359008 c.2536G>A p.V846I missense 0.00000833
531. 47353814 c.3628-5T>C splice site 0.00000832
532. 47364299 c.1458-4C>T splice site 0.00000832
533. 47353813 c.3628-4A>G splice site 0.00000832
534. 47355146 c.3152A>G p.N1051S missense 0.00000832
535. 47364294 c.1459C>A p.L487M missense 0.00000831
536. 47361284 c.1985T>C p.V662A missense 0.00000831
537. 47359132 c.2414-2A>G essential splice site 0.00000831
538. 47361347 c.1928-6C>T splice site 0.00000831
539. 47355201 c.3097C>T p.R1033W missense 0.00000831
540. 47360071 c.2308G>A p.D770N missense 0.00000830
541. 47360068 c.2308+3G>A splice site 0.00000830
542. 47359118 c.2426A>G p.E809G missense 0.00000830
543. 47355176 c.3122G>A p.G1041D missense 0.00000830
544. 47361327 c.1942C>T p.H648Y missense 0.00000830
545. 47361291 c.1978G>T p.V660L missense 0.00000830
546. 47353795 c.3642G>A p.W1214X nonsense 0.00000830
547. 47355189 c.3109C>G p.R1037G missense 0.00000830
548. 47359101 c.2443_2443insCGA p.Lys814_Ser815insThr inframe 0.00000830
549. 47355171 c.3127T>A p.Y1043N missense 0.00000830
550. 47364284 c.1469G>A p.G490E missense 0.00000830
551. 47355188 c.3110G>A p.R1037H missense 0.00000830
552. 47355171 c.3127T>C p.Y1043H missense 0.00000830
553. 47364250 c.1503C>G p.Y501X nonsense 0.00000829
554. 47359074 c.2470G>A p.D824N missense 0.00000829
555. 47353769 c.3668A>G p.E1223G missense 0.00000829
556. 47359086 c.2458C>T p.R820W missense 0.00000829
557. 47359053 c.2491C>T p.H831Y missense 0.00000829
558. 47359040 c.2504G>A p.R835H missense 0.00000829
559. 47364254 c.1499A>C p.K500T missense 0.00000829
560. 47359094 c.2450G>C p.R817P missense 0.00000829
561. 47359055 c.2489G>A p.S830N missense 0.00000829
562. 47353740 c.3697C>T p.Q1233X nonsense 0.00000829
563. 47364260 c.1493C>A p.T498N missense 0.00000829
564. 47361309 c.1960C>T p.R654C missense 0.00000829
565. 47353767 c.3670G>A p.D1224N missense 0.00000829
566. 47364213 c.1540A>G p.I514V missense 0.00000829
567. 47360959 c.2068-4C>G splice site 0.00000829
568. 47359062 c.2482G>C p.E828Q missense 0.00000829
569. 47364269 c.1484G>A p.R495Q missense 0.00000829
570. 47364266 c.1487A>G p.E496G missense 0.00000829
571. 47353770 c.3667G>A p.E1223K missense 0.00000829
572. 47364210 c.1543_1545delAAC inframe 0.00000829
573. 47359041 c.2503C>A p.R835S missense 0.00000829
574. 47361314 c.1955C>G p.P652R missense 0.00000829
575. 47360910 c.2113dupA frameshift 0.00000828
576. 47360888 c.2135T>C p.V712A missense 0.00000828

* 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.