MYBPC3 missense variants in ExAC


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