MYBPC3 missense variants in ExAC

MYBPC3 gene summary
MYBPC3 variants in HCM, DCM

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 frequency▼Populations*
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. 47355559 c.2908C>T p.R970W missense 0.00006633●●●●●●
97. 47360110 c.2269G>A p.V757M 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. 47355191 c.3107G>A p.R1036H missense 0.00005813●●●●●●
113. 47364282 c.1471G>A p.V491M 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. 47372951 c.131G>A p.R44H missense 0.00003633●●●●●●
171. 47360203 c.2176C>T p.R726C 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. 47372876 c.206G>A p.R69Q missense 0.00002494●●●●●●
217. 47364188 c.1565C>T p.A522V 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. 47359041 c.2503C>T p.R835C missense 0.00002487●●●●●●
222. 47360104 c.2275G>A p.E759K missense 0.00002487●●●●●●
223. 47359043 c.2501G>A p.R834Q 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. 47371335 c.644G>A p.R215H missense 0.00001822●●●●●●
259. 47364614 c.1309G>T p.V437L 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. 47367778 c.1070G>A p.R357H missense 0.00001671●●●●●●
273. 47367774 c.1074T>A p.D358E missense 0.00001671●●●●●●
274. 47353687 c.3750C>G p.I1250M missense 0.00001663●●●●●●
275. 47355156 c.3142C>T p.R1048C missense 0.00001662●●●●●●
276. 47355155 c.3143G>A p.R1048H missense 0.00001662●●●●●●
277. 47355189 c.3109C>T p.R1037C missense 0.00001661●●●●●●
278. 47355185 c.3113T>A p.V1038E missense 0.00001660●●●●●●
279. 47355186 c.3112G>A p.V1038M missense 0.00001660●●●●●●
280. 47364281 c.1472T>G p.V491G missense 0.00001660●●●●●●
281. 47361331 c.1938G>C p.K646N missense 0.00001660●●●●●●
282. 47359026 c.2518G>A p.V840M missense 0.00001660●●●●●●
283. 47361296 c.1973C>T p.T658I missense 0.00001659●●●●●●
284. 47364199 c.1554G>A p.M518I missense 0.00001659●●●●●●
285. 47353754 c.3683G>A p.R1228H missense 0.00001659●●●●●●
286. 47360079 c.2300A>G p.K767R missense 0.00001659●●●●●●
287. 47353722 c.3715G>A p.E1239K 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>C p.A686P missense 0.00001637●●●●●●
296. 47361213 c.2056G>A p.A686T 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>T p.A176V missense 0.00001044●●●●●●
332. 47371452 c.527C>G p.A176G 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. 47368188 c.916C>T p.R306W missense 0.00000925●●●●●●
354. 47370035 c.712C>T p.R238C 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. 47364415 c.1423T>C p.C475R missense 0.00000854●●●●●●
388. 47364164 c.1589G>A p.S530N 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. 47355234 c.3064C>T p.R1022C missense 0.00000840●●●●●●
403. 47354124 c.3620G>T p.S1207I missense 0.00000840●●●●●●
404. 47356698 c.2800C>G p.L934V missense 0.00000840●●●●●●
405. 47364173 c.1580T>C p.L527P missense 0.00000839●●●●●●
406. 47354175 c.3569G>T p.R1190L missense 0.00000839●●●●●●
407. 47374196 c.3G>A p.Met1? missense 0.00000838●●●●●●
408. 47355231 c.3067A>G p.N1023D missense 0.00000838●●●●●●
409. 47359002 c.2542G>A p.A848T missense 0.00000836●●●●●●
410. 47367764 c.1084A>G p.S362G missense 0.00000836●●●●●●
411. 47353660 c.3777G>C p.Q1259H missense 0.00000836●●●●●●
412. 47361270 c.1999C>A p.L667I missense 0.00000836●●●●●●
413. 47359001 c.2543C>T p.A848V missense 0.00000836●●●●●●
414. 47355123 c.3175G>C p.V1059L missense 0.00000835●●●●●●
415. 47367776 c.1072G>A p.D358N missense 0.00000835●●●●●●
416. 47354164 c.3580G>A p.A1194T missense 0.00000835●●●●●●
417. 47359005 c.2539T>C p.Y847H missense 0.00000834●●●●●●
418. 47355219 c.3079G>C p.D1027H missense 0.00000834●●●●●●
419. 47355128 c.3170C>T p.T1057M missense 0.00000834●●●●●●
420. 47353670 c.3767C>T p.T1256I 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. 47355201 c.3097C>T p.R1033W missense 0.00000831●●●●●●
425. 47361284 c.1985T>C p.V662A missense 0.00000831●●●●●●
426. 47364284 c.1469G>A p.G490E missense 0.00000830●●●●●●
427. 47355171 c.3127T>A p.Y1043N missense 0.00000830●●●●●●
428. 47355188 c.3110G>A p.R1037H missense 0.00000830●●●●●●
429. 47355171 c.3127T>C p.Y1043H missense 0.00000830●●●●●●
430. 47355176 c.3122G>A p.G1041D missense 0.00000830●●●●●●
431. 47361327 c.1942C>T p.H648Y missense 0.00000830●●●●●●
432. 47360071 c.2308G>A p.D770N missense 0.00000830●●●●●●
433. 47359118 c.2426A>G p.E809G missense 0.00000830●●●●●●
434. 47361291 c.1978G>T p.V660L missense 0.00000830●●●●●●
435. 47355189 c.3109C>G p.R1037G missense 0.00000830●●●●●●
436. 47364266 c.1487A>G p.E496G missense 0.00000829●●●●●●
437. 47353769 c.3668A>G p.E1223G missense 0.00000829●●●●●●
438. 47364213 c.1540A>G p.I514V missense 0.00000829●●●●●●
439. 47359062 c.2482G>C p.E828Q missense 0.00000829●●●●●●
440. 47359041 c.2503C>A p.R835S missense 0.00000829●●●●●●
441. 47361309 c.1960C>T p.R654C missense 0.00000829●●●●●●
442. 47361314 c.1955C>G p.P652R missense 0.00000829●●●●●●
443. 47364254 c.1499A>C p.K500T missense 0.00000829●●●●●●
444. 47359074 c.2470G>A p.D824N missense 0.00000829●●●●●●
445. 47364269 c.1484G>A p.R495Q missense 0.00000829●●●●●●
446. 47353767 c.3670G>A p.D1224N missense 0.00000829●●●●●●
447. 47359053 c.2491C>T p.H831Y 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. 47359086 c.2458C>T p.R820W missense 0.00000829●●●●●●
452. 47353770 c.3667G>A p.E1223K missense 0.00000829●●●●●●
453. 47359055 c.2489G>A p.S830N 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.