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