MYBPC3 variants in ExAC

MYBPC3 gene summary
MYBPC3 variants in HCM, DCM

The table below lists the MYBPC3 variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




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

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.