MYBPC3 non-truncating variants in ExAC


The table below lists the MYBPC3 non-truncating 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. 47355559 c.2908C>T p.R970W missense 0.00006633
31. 47360110 c.2269G>A p.V757M 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. 47360169 c.2210C>T p.T737M missense 0.00005037
61. 47357472 c.2693C>T p.A898V missense 0.00004925
62. 47354858 c.3217C>T p.R1073W missense 0.00004906
63. 47359315 c.2339T>G p.I780S missense 0.00004860
64. 47356616 c.2882C>T p.P961L missense 0.00004813
65. 47371422 c.557C>T p.P186L missense 0.00004764
66. 47359309 c.2345A>G p.N782S missense 0.00004741
67. 47354852 c.3223A>G p.T1075A missense 0.00004691
68. 47355293 c.3005G>A p.R1002Q missense 0.00004654
69. 47364152 c.1601C>T p.A534V missense 0.00004571
70. 47354752 c.3323A>C p.K1108T missense 0.00004531
71. 47371375 c.604A>C p.K202Q missense 0.00004496
72. 47364465 c.1373G>A p.R458H missense 0.00004424
73. 47372888 c.194C>T p.T65M missense 0.00004280
74. 47371636 c.434C>A p.P145H missense 0.00004276
75. 47369411 c.818G>A p.R273H missense 0.00004268
76. 47362777 c.1809T>G p.I603M missense 0.00004267
77. 47353637 c.3800G>A p.R1267H missense 0.00004239
78. 47364393 c.1445C>T p.A482V missense 0.00004233
79. 47369414 c.815G>A p.R272H missense 0.00004210
80. 47371628 c.442G>A p.G148R missense 0.00004201
81. 47370088 c.659A>G p.Y220C missense 0.00004178
82. 47371624 c.446C>A p.A149D missense 0.00004162
83. 47369023 c.859C>T p.H287Y missense 0.00004162
84. 47371589 c.481C>A p.P161T missense 0.00004148
85. 47364207 c.1546G>A p.E516K missense 0.00004145
86. 47371619 c.451G>A p.D151N missense 0.00004106
87. 47369424 c.805T>C p.S269P missense 0.00004076
88. 47357482 c.2683C>T p.R895C missense 0.00004034
89. 47362697 c.1889A>T p.H630L missense 0.00003963
90. 47372894 c.188G>A p.R63Q missense 0.00003933
91. 47362760 c.1826C>T p.A609V missense 0.00003924
92. 47372936 c.146_148delTCA p.Ile49del inframe 0.00003922
93. 47369975 c.772G>A p.E258K missense 0.00003903
94. 47372934 c.148A>G p.S50G missense 0.00003887
95. 47372831 c.251G>A p.G84D missense 0.00003832
96. 47363543 c.1789C>T p.R597W missense 0.00003821
97. 47354789 c.3286G>A p.E1096K missense 0.00003820
98. 47364629 c.1294G>A p.A432T missense 0.00003756
99. 47354443 c.3412C>T p.R1138C missense 0.00003719
100. 47362715 c.1871A>G p.N624S missense 0.00003716
101. 47372095 c.364G>A p.A122T missense 0.00003700
102. 47368187 c.917G>A p.R306Q missense 0.00003694
103. 47358942 c.2602G>A p.G868S missense 0.00003676
104. 47371339 c.640G>A p.D214N missense 0.00003634
105. 47372951 c.131G>A p.R44H missense 0.00003633
106. 47360203 c.2176C>T p.R726C missense 0.00003633
107. 47360202 c.2177G>A p.R726H missense 0.00003627
108. 47360200 c.2179G>A p.V727M missense 0.00003605
109. 47371381 c.598A>G p.S200G missense 0.00003600
110. 47364475 c.1363C>T p.L455F missense 0.00003567
111. 47355483 c.2984T>A p.I995N missense 0.00003507
112. 47372960 c.122G>A p.R41H missense 0.00003504
113. 47372961 c.121C>T p.R41C missense 0.00003493
114. 47369208 c.845G>A p.R282Q missense 0.00003483
115. 47363554 c.1778C>T p.S593F missense 0.00003456
116. 47358982 c.2562G>A p.M854I missense 0.00003438
117. 47360181 c.2198G>A p.R733H missense 0.00003404
118. 47372975 c.107C>A p.A36E missense 0.00003394
119. 47372844 c.238G>A p.A80T missense 0.00003389
120. 47363699 c.1633C>A p.L545M missense 0.00003388
121. 47354497 c.3358C>T p.R1120C missense 0.00003386
122. 47356683 c.2815C>T p.R939W missense 0.00003379
123. 47353650 c.3787C>T p.R1263W missense 0.00003362
124. 47374188 c.11C>T p.P4L missense 0.00003343
125. 47355144 c.3154A>G p.M1052V missense 0.00003327
126. 47353695 c.3742G>A p.G1248R missense 0.00003324
127. 47359115 c.2429G>A p.R810H missense 0.00003319
128. 47360101 c.2278G>C p.D760H missense 0.00003316
129. 47360946 c.2077G>T p.A693S missense 0.00003313
130. 47363559 c.1773G>T p.K591N missense 0.00003300
131. 47355505 c.2962G>A p.G988R missense 0.00003264
132. 47355558 c.2909G>A p.R970Q missense 0.00003251
133. 47357494 c.2671C>T p.R891W missense 0.00003138
134. 47357544 c.2621C>T p.T874I missense 0.00003120
135. 47357547 c.2618C>T p.P873L missense 0.00003119
136. 47360215 c.2164G>A p.E722K missense 0.00002917
137. 47364677 c.1246G>A p.G416S missense 0.00002898
138. 47357497 c.2668T>G p.W890G missense 0.00002842
139. 47365154 c.1112C>T p.P371L missense 0.00002829
140. 47364632 c.1291G>A p.D431N missense 0.00002811
141. 47372931 c.151G>T p.A51S missense 0.00002664
142. 47367827 c.1021G>A p.G341S missense 0.00002584
143. 47356670 c.2828G>A p.R943Q missense 0.00002554
144. 47360181 c.2198G>T p.R733L missense 0.00002553
145. 47372937 c.145A>T p.I49F missense 0.00002551
146. 47360179 c.2200A>G p.S734G missense 0.00002548
147. 47356733 c.2765G>A p.G922E missense 0.00002534
148. 47363668 c.1664T>C p.M555T missense 0.00002529
149. 47355233 c.3065G>C p.R1022P missense 0.00002520
150. 47355226 c.3072C>A p.S1024R missense 0.00002509
151. 47372876 c.206G>A p.R69Q missense 0.00002494
152. 47364188 c.1565C>T p.A522V missense 0.00002494
153. 47360137 c.2242G>A p.V748I missense 0.00002490
154. 47359032 c.2512G>C p.E838Q missense 0.00002489
155. 47360130 c.2249C>T p.T750M missense 0.00002489
156. 47360104 c.2275G>A p.E759K missense 0.00002487
157. 47359043 c.2501G>A p.R834Q missense 0.00002487
158. 47359041 c.2503C>T p.R835C missense 0.00002487
159. 47364249 c.1504C>T p.R502W missense 0.00002486
160. 47364129 c.1624G>C p.E542Q missense 0.00002485
161. 47372949 c.133G>A p.G45R missense 0.00002442
162. 47372952 c.130C>T p.R44C missense 0.00002413
163. 47373036 c.46C>T p.P16S missense 0.00002408
164. 47373033 c.49C>T p.R17W missense 0.00002399
165. 47373032 c.50G>T p.R17L missense 0.00002383
166. 47368996 c.886A>G p.S296G missense 0.00002340
167. 47373015 c.67G>A p.A23T missense 0.00002310
168. 47354846 c.3229G>T p.A1077S missense 0.00002307
169. 47354520 c.3335_3337dupGGT p.Trp1112dup inframe 0.00002298
170. 47373009 c.73A>T p.S25C missense 0.00002279
171. 47354482 c.3373G>A p.V1125M missense 0.00002276
172. 47354843 c.3232T>C p.W1078R missense 0.00002276
173. 47354494 c.3361C>T p.R1121C missense 0.00002264
174. 47354833 c.3242A>C p.N1081T missense 0.00002220
175. 47357511 c.2654C>T p.T885M missense 0.00002217
176. 47361236 c.2033C>A p.A678D missense 0.00002214
177. 47367872 c.976C>T p.R326W missense 0.00002182
178. 47354232 c.3512A>G p.N1171S missense 0.00002141
179. 47354798 c.3277G>T p.G1093C missense 0.00002053
180. 47371447 c.532G>A p.V178M missense 0.00002045
181. 47365055 c.1211A>C p.Q404P missense 0.00002032
182. 47362766 c.1820C>T p.T607I missense 0.00002017
183. 47371438 c.541G>A p.A181T missense 0.00001981
184. 47356614 c.2884G>C p.V962L missense 0.00001953
185. 47364667 c.1256G>A p.R419H missense 0.00001918
186. 47371425 c.554A>G p.K185R missense 0.00001905
187. 47371426 c.553A>C p.K185Q missense 0.00001904
188. 47360209 c.2170C>T p.R724W missense 0.00001900
189. 47361206 c.2063C>A p.T688K missense 0.00001872
190. 47357524 c.2641G>A p.V881I missense 0.00001863
191. 47367845 c.1003C>T p.R335C missense 0.00001848
192. 47370047 c.700A>G p.T234A missense 0.00001838
193. 47362719 c.1867T>A p.C623S missense 0.00001835
194. 47371335 c.644G>A p.R215H missense 0.00001822
195. 47364614 c.1309G>T p.V437L missense 0.00001822
196. 47364607 c.1316G>A p.G439D missense 0.00001808
197. 47364477 c.1361T>C p.V454A missense 0.00001780
198. 47364162 c.1591G>A p.G531R missense 0.00001732
199. 47364162 c.1591G>C p.G531R missense 0.00001732
200. 47364405 c.1433C>T p.S478L missense 0.00001702
201. 47355246 c.3052G>C p.E1018Q missense 0.00001699
202. 47367809 c.1039G>A p.G347S missense 0.00001688
203. 47361267 c.2002C>T p.R668C missense 0.00001680
204. 47353656 c.3781G>A p.E1261K missense 0.00001676
205. 47354172 c.3572C>T p.S1191L missense 0.00001675
206. 47354130 c.3614G>A p.R1205Q missense 0.00001674
207. 47354131 c.3613C>T p.R1205W missense 0.00001673
208. 47367774 c.1074T>A p.D358E missense 0.00001671
209. 47367778 c.1070G>A p.R357H missense 0.00001671
210. 47353687 c.3750C>G p.I1250M missense 0.00001663
211. 47355156 c.3142C>T p.R1048C missense 0.00001662
212. 47355155 c.3143G>A p.R1048H missense 0.00001662
213. 47355189 c.3109C>T p.R1037C missense 0.00001661
214. 47355185 c.3113T>A p.V1038E missense 0.00001660
215. 47355186 c.3112G>A p.V1038M missense 0.00001660
216. 47359026 c.2518G>A p.V840M missense 0.00001660
217. 47361331 c.1938G>C p.K646N missense 0.00001660
218. 47364281 c.1472T>G p.V491G missense 0.00001660
219. 47353754 c.3683G>A p.R1228H missense 0.00001659
220. 47353722 c.3715G>A p.E1239K missense 0.00001659
221. 47364199 c.1554G>A p.M518I missense 0.00001659
222. 47360079 c.2300A>G p.K767R missense 0.00001659
223. 47361296 c.1973C>T p.T658I missense 0.00001659
224. 47359105 c.2439G>C p.K813N missense 0.00001658
225. 47359044 c.2500C>T p.R834W missense 0.00001658
226. 47359085 c.2459G>A p.R820Q missense 0.00001657
227. 47359094 c.2450G>A p.R817Q missense 0.00001657
228. 47360889 c.2134G>T p.V712L missense 0.00001656
229. 47360904 c.2119G>A p.D707N missense 0.00001656
230. 47360924 c.2099A>T p.D700V missense 0.00001656
231. 47361213 c.2056G>A p.A686T missense 0.00001637
232. 47361213 c.2056G>C p.A686P missense 0.00001637
233. 47357541 c.2624A>T p.H875L missense 0.00001586
234. 47354776 c.3299A>T p.Y1100F missense 0.00001566
235. 47354752 c.3323_3325delAGA p.Lys1108del inframe 0.00001513
236. 47354751 c.3324G>C p.K1108N missense 0.00001512
237. 47372916 c.166G>A p.G56S missense 0.00001500
238. 47367899 c.949G>A p.A317T missense 0.00001421
239. 47372930 c.152C>T p.A51V missense 0.00001337
240. 47372931 c.151G>A p.A51T missense 0.00001332
241. 47354392 c.3463A>G p.K1155E missense 0.00001323
242. 47354394 c.3461C>T p.T1154I missense 0.00001321
243. 47354401 c.3454G>T p.A1152S missense 0.00001318
244. 47354398 c.3457A>T p.T1153S missense 0.00001315
245. 47365086 c.1180G>A p.V394I missense 0.00001298
246. 47354406 c.3449G>A p.R1150K missense 0.00001298
247. 47371467 c.512G>A p.S171N missense 0.00001288
248. 47354413 c.3442A>C p.S1148R missense 0.00001286
249. 47354413 c.3442A>G p.S1148G missense 0.00001286
250. 47367888 c.960C>G p.D320E missense 0.00001278
251. 47367887 c.961G>C p.V321L missense 0.00001250
252. 47361228 c.2041G>A p.V681M missense 0.00001248
253. 47363606 c.1726G>A p.V576M missense 0.00001222
254. 47364130 c.1623G>C p.Q541H missense 0.00001221
255. 47373041 c.41A>G p.K14R missense 0.00001212
256. 47367878 c.970A>T p.I324F missense 0.00001153
257. 47365095 c.1171G>T p.D391Y missense 0.00001152
258. 47354472 c.3383A>C p.E1128A missense 0.00001151
259. 47372964 c.118G>A p.V40M missense 0.00001150
260. 47372965 c.117G>T p.K39N missense 0.00001148
261. 47354482 c.3373G>T p.V1125L missense 0.00001138
262. 47354509 c.3346T>G p.L1116V missense 0.00001136
263. 47354484 c.3371G>A p.C1124Y missense 0.00001133
264. 47372988 c.94G>C p.E32Q missense 0.00001117
265. 47372994 c.88G>A p.E30K missense 0.00001113
266. 47372991 c.91G>A p.A31T missense 0.00001112
267. 47370092 c.655G>T p.V219F missense 0.00001064
268. 47371452 c.527C>T p.A176V missense 0.00001044
269. 47371452 c.527C>G p.A176G missense 0.00001044
270. 47356604 c.2894A>G p.Q965R missense 0.00001016
271. 47354226 c.3518_3520delAGG p.Lys1173_Ala1174delinsThr inframe 0.00001015
272. 47365113 c.1153G>A p.V385M missense 0.00001011
273. 47354221 c.3523C>G p.L1175V missense 0.00001009
274. 47370001 c.746G>A p.C249Y missense 0.00001009
275. 47370002 c.745T>C p.C249R missense 0.00001003
276. 47356607 c.2891T>C p.V964A missense 0.00001001
277. 47371441 c.538G>A p.G180S missense 0.00000996
278. 47360218 c.2161A>T p.T721S missense 0.00000983
279. 47364697 c.1227-1_1228dupGGT p.Lys409_Tyr410insTrp inframe 0.00000977
280. 47365121 c.1145G>A p.R382Q missense 0.00000975
281. 47360215 c.2164G>C p.E722Q missense 0.00000972
282. 47367854 c.994G>A p.E332K missense 0.00000970
283. 47364667 c.1256G>C p.R419P missense 0.00000959
284. 47364668 c.1255C>T p.R419C missense 0.00000959
285. 47365166 c.1100A>G p.K367R missense 0.00000956
286. 47365165 c.1101G>T p.K367N missense 0.00000955
287. 47365133 c.1133G>C p.G378A missense 0.00000950
288. 47365143 c.1123G>A p.V375M missense 0.00000939
289. 47356622 c.2876C>T p.T959M missense 0.00000939
290. 47365146 c.1120C>A p.Q374K missense 0.00000938
291. 47371411 c.568A>G p.K190E missense 0.00000928
292. 47370035 c.712C>T p.R238C missense 0.00000925
293. 47368188 c.916C>T p.R306W missense 0.00000925
294. 47371406 c.573G>T p.W191C missense 0.00000923
295. 47358945 c.2599A>G p.I867V missense 0.00000913
296. 47364614 c.1309G>A p.V437M missense 0.00000911
297. 47361251 c.2018T>C p.I673T missense 0.00000909
298. 47367842 c.1006A>T p.I336F missense 0.00000905
299. 47371348 c.631G>A p.D211N missense 0.00000903
300. 47371345 c.634A>G p.S212G missense 0.00000903
301. 47364604 c.1319G>A p.G440D missense 0.00000902
302. 47364154 c.1599G>C p.Q533H missense 0.00000900
303. 47367839 c.1009G>A p.A337T missense 0.00000899
304. 47364480 c.1358C>T p.P453L missense 0.00000895
305. 47364481 c.1357C>G p.P453A missense 0.00000895
306. 47355281 c.3017C>A p.T1006N missense 0.00000891
307. 47364589 c.1334C>T p.T445M missense 0.00000890
308. 47364158 c.1595G>A p.G532D missense 0.00000882
309. 47364463 c.1375C>T p.P459S missense 0.00000882
310. 47358968 c.2576C>T p.P859L missense 0.00000879
311. 47355267 c.3031G>A p.G1011R missense 0.00000873
312. 47360191 c.2188A>C p.T730P missense 0.00000872
313. 47358974 c.2570C>T p.P857L missense 0.00000870
314. 47358976 c.2568G>T p.R856S missense 0.00000868
315. 47364441 c.1397T>A p.M466K missense 0.00000867
316. 47360190 c.2189C>T p.T730I missense 0.00000866
317. 47356657 c.2841C>A p.H947Q missense 0.00000865
318. 47356658 c.2840A>G p.H947R missense 0.00000864
319. 47364433 c.1405C>G p.Q469E missense 0.00000863
320. 47364429 c.1409G>A p.R470Q missense 0.00000862
321. 47363647 c.1685C>T p.A562V missense 0.00000860
322. 47355255 c.3043G>A p.A1015T missense 0.00000859
323. 47353625 c.3812G>A p.R1271Q missense 0.00000858
324. 47356665 c.2833C>T p.R945W missense 0.00000857
325. 47358984 c.2560A>T p.M854L missense 0.00000856
326. 47364415 c.1423T>C p.C475R missense 0.00000854
327. 47364164 c.1589G>A p.S530N missense 0.00000854
328. 47358987 c.2557G>A p.G853S missense 0.00000853
329. 47358987 c.2557G>T p.G853C missense 0.00000853
330. 47363654 c.1678G>C p.D560H missense 0.00000852
331. 47356676 c.2822T>C p.L941P missense 0.00000848
332. 47363660 c.1672G>A p.A558T missense 0.00000848
333. 47364396 c.1442G>A p.G481E missense 0.00000847
334. 47353638 c.3799C>T p.R1267C missense 0.00000846
335. 47363693 c.1639G>A p.V547M missense 0.00000845
336. 47356686 c.2812G>T p.A938S missense 0.00000843
337. 47353646 c.3791G>A p.C1264Y missense 0.00000842
338. 47354176 c.3568C>T p.R1190C missense 0.00000841
339. 47353649 c.3788G>A p.R1263Q missense 0.00000841
340. 47355234 c.3064C>T p.R1022C missense 0.00000840
341. 47354124 c.3620G>T p.S1207I missense 0.00000840
342. 47356715 c.2783C>T p.S928L missense 0.00000840
343. 47356698 c.2800C>G p.L934V missense 0.00000840
344. 47364173 c.1580T>C p.L527P missense 0.00000839
345. 47354175 c.3569G>T p.R1190L missense 0.00000839
346. 47374196 c.3G>A p.Met1? missense 0.00000838
347. 47355231 c.3067A>G p.N1023D missense 0.00000838
348. 47359002 c.2542G>A p.A848T missense 0.00000836
349. 47359001 c.2543C>T p.A848V missense 0.00000836
350. 47361270 c.1999C>A p.L667I missense 0.00000836
351. 47367766 c.1082_1084delAGA p.Lys361del inframe 0.00000836
352. 47353660 c.3777G>C p.Q1259H missense 0.00000836
353. 47367764 c.1084A>G p.S362G missense 0.00000836
354. 47367776 c.1072G>A p.D358N missense 0.00000835
355. 47355123 c.3175G>C p.V1059L missense 0.00000835
356. 47354164 c.3580G>A p.A1194T missense 0.00000835
357. 47355219 c.3079G>C p.D1027H missense 0.00000834
358. 47359005 c.2539T>C p.Y847H missense 0.00000834
359. 47355128 c.3170C>T p.T1057M missense 0.00000834
360. 47353670 c.3767C>T p.T1256I missense 0.00000834
361. 47359008 c.2536G>A p.V846I missense 0.00000833
362. 47355146 c.3152A>G p.N1051S missense 0.00000832
363. 47355201 c.3097C>T p.R1033W missense 0.00000831
364. 47361284 c.1985T>C p.V662A missense 0.00000831
365. 47364294 c.1459C>A p.L487M missense 0.00000831
366. 47360071 c.2308G>A p.D770N missense 0.00000830
367. 47355171 c.3127T>A p.Y1043N missense 0.00000830
368. 47355188 c.3110G>A p.R1037H missense 0.00000830
369. 47361327 c.1942C>T p.H648Y missense 0.00000830
370. 47364284 c.1469G>A p.G490E missense 0.00000830
371. 47359118 c.2426A>G p.E809G missense 0.00000830
372. 47355171 c.3127T>C p.Y1043H missense 0.00000830
373. 47361291 c.1978G>T p.V660L missense 0.00000830
374. 47359101 c.2443_2443insCGA p.Lys814_Ser815insThr inframe 0.00000830
375. 47355176 c.3122G>A p.G1041D missense 0.00000830
376. 47355189 c.3109C>G p.R1037G missense 0.00000830
377. 47353770 c.3667G>A p.E1223K missense 0.00000829
378. 47359086 c.2458C>T p.R820W missense 0.00000829
379. 47359041 c.2503C>A p.R835S missense 0.00000829
380. 47361314 c.1955C>G p.P652R missense 0.00000829
381. 47364260 c.1493C>A p.T498N missense 0.00000829
382. 47359074 c.2470G>A p.D824N missense 0.00000829
383. 47361309 c.1960C>T p.R654C missense 0.00000829
384. 47359053 c.2491C>T p.H831Y missense 0.00000829
385. 47364266 c.1487A>G p.E496G missense 0.00000829
386. 47359040 c.2504G>A p.R835H missense 0.00000829
387. 47364210 c.1543_1545delAAC inframe 0.00000829
388. 47364213 c.1540A>G p.I514V missense 0.00000829
389. 47359055 c.2489G>A p.S830N missense 0.00000829
390. 47359094 c.2450G>C p.R817P missense 0.00000829
391. 47364269 c.1484G>A p.R495Q missense 0.00000829
392. 47353767 c.3670G>A p.D1224N missense 0.00000829
393. 47353769 c.3668A>G p.E1223G missense 0.00000829
394. 47364254 c.1499A>C p.K500T missense 0.00000829
395. 47359062 c.2482G>C p.E828Q missense 0.00000829
396. 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.