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. 47364282 c.1471G>A p.V491M missense 0.00005813●●●●●●
130. 47355191 c.3107G>A p.R1036H 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. 47369040 c.852-10C>G splice site 0.00004034●●●●●●
181. 47357482 c.2683C>T p.R895C missense 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. 47372951 c.131G>A p.R44H missense 0.00003633●●●●●●
200. 47360203 c.2176C>T p.R726C 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. 47360130 c.2249C>T p.T750M missense 0.00002489●●●●●●
259. 47360072 c.2307C>T splice site 0.00002489●●●●●●
260. 47359032 c.2512G>C p.E838Q missense 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. 47359054 c.2490_2491insT p.His831SerfsTer2 frameshift 0.00002486●●●●●●
265. 47364249 c.1504C>T p.R502W missense 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. 47354843 c.3232T>C p.W1078R missense 0.00002276●●●●●●
280. 47354482 c.3373G>A p.V1125M 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>A p.G531R missense 0.00001732●●●●●●
324. 47364162 c.1591G>C 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. 47354172 c.3572C>T p.S1191L missense 0.00001675●●●●●●
334. 47355117 c.3181C>T p.Q1061X nonsense 0.00001675●●●●●●
335. 47354130 c.3614G>A p.R1205Q missense 0.00001674●●●●●●
336. 47354131 c.3613C>T p.R1205W missense 0.00001673●●●●●●
337. 47367774 c.1074T>A p.D358E missense 0.00001671●●●●●●
338. 47367778 c.1070G>A p.R357H 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. 47355155 c.3143G>A p.R1048H missense 0.00001662●●●●●●
343. 47355156 c.3142C>T p.R1048C 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. 47353722 c.3715G>A p.E1239K missense 0.00001659●●●●●●
351. 47360079 c.2300A>G p.K767R missense 0.00001659●●●●●●
352. 47353754 c.3683G>A p.R1228H missense 0.00001659●●●●●●
353. 47361296 c.1973C>T p.T658I missense 0.00001659●●●●●●
354. 47364199 c.1554G>A p.M518I missense 0.00001659●●●●●●
355. 47359105 c.2439G>C p.K813N missense 0.00001658●●●●●●
356. 47359044 c.2500C>T p.R834W missense 0.00001658●●●●●●
357. 47359094 c.2450G>A p.R817Q missense 0.00001657●●●●●●
358. 47359085 c.2459G>A p.R820Q missense 0.00001657●●●●●●
359. 47360904 c.2119G>A p.D707N missense 0.00001656●●●●●●
360. 47360924 c.2099A>T p.D700V missense 0.00001656●●●●●●
361. 47360889 c.2134G>T p.V712L missense 0.00001656●●●●●●
362. 47361213 c.2056G>A p.A686T missense 0.00001637●●●●●●
363. 47361213 c.2056G>C p.A686P 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. 47357567 c.2603-5C>A splice site 0.00001500●●●●●●
369. 47372916 c.166G>A p.G56S missense 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. 47365086 c.1180G>A p.V394I missense 0.00001298●●●●●●
384. 47354406 c.3449G>A p.R1150K missense 0.00001298●●●●●●
385. 47371467 c.512G>A p.S171N missense 0.00001288●●●●●●
386. 47354413 c.3442A>C p.S1148R missense 0.00001286●●●●●●
387. 47354413 c.3442A>G p.S1148G 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. 47370001 c.746G>A p.C249Y missense 0.00001009●●●●●●
422. 47354221 c.3523C>G p.L1175V 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. 47365122 c.1144delC p.Arg382GlyfsTer2 frameshift 0.00000975●●●●●●
431. 47365121 c.1145G>A p.R382Q missense 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. 47365143 c.1123G>A p.V375M missense 0.00000939●●●●●●
441. 47356622 c.2876C>T p.T959M 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. 47370035 c.712C>T p.R238C missense 0.00000925●●●●●●
447. 47368188 c.916C>T p.R306W 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. 47364491 c.1352-5G>A splice site 0.00000899●●●●●●
460. 47367839 c.1009G>A p.A337T missense 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. 47356766 c.2738-6C>A splice site 0.00000867●●●●●●
475. 47364441 c.1397T>A p.M466K missense 0.00000867●●●●●●
476. 47356764 c.2738-4C>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. 47353624 c.3813A>G splice site 0.00000859●●●●●●
484. 47355255 c.3043G>A p.A1015T missense 0.00000859●●●●●●
485. 47353625 c.3812G>A p.R1271Q missense 0.00000858●●●●●●
486. 47356665 c.2833C>T p.R945W missense 0.00000857●●●●●●
487. 47363714 c.1625-7C>A splice site 0.00000856●●●●●●
488. 47358984 c.2560A>T p.M854L missense 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>T p.G853C missense 0.00000853●●●●●●
492. 47358987 c.2557G>A p.G853S 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. 47363693 c.1639delG p.Val547CysfsTer8 frameshift 0.00000845●●●●●●
500. 47363693 c.1639G>A p.V547M missense 0.00000845●●●●●●
501. 47355105 c.3190+3G>A splice site 0.00000845●●●●●●
502. 47356686 c.2812G>T p.A938S missense 0.00000843●●●●●●
503. 47353646 c.3791G>A p.C1264Y missense 0.00000842●●●●●●
504. 47367810 c.1038_1042dupCGGCA frameshift 0.00000842●●●●●●
505. 47354176 c.3568C>T p.R1190C missense 0.00000841●●●●●●
506. 47353649 c.3788G>A p.R1263Q missense 0.00000841●●●●●●
507. 47356715 c.2783C>T p.S928L missense 0.00000840●●●●●●
508. 47356698 c.2800C>G p.L934V missense 0.00000840●●●●●●
509. 47355234 c.3064C>T p.R1022C missense 0.00000840●●●●●●
510. 47354124 c.3620G>T p.S1207I missense 0.00000840●●●●●●
511. 47367750 c.1090+8C>T splice site 0.00000839●●●●●●
512. 47354175 c.3569G>T p.R1190L missense 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. 47353660 c.3777G>C p.Q1259H missense 0.00000836●●●●●●
517. 47367766 c.1082_1084delAGA p.Lys361del inframe 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. 47359001 c.2543C>T p.A848V missense 0.00000836●●●●●●
522. 47354164 c.3580G>A p.A1194T missense 0.00000835●●●●●●
523. 47367776 c.1072G>A p.D358N missense 0.00000835●●●●●●
524. 47355123 c.3175G>C p.V1059L missense 0.00000835●●●●●●
525. 47353670 c.3767C>T p.T1256I missense 0.00000834●●●●●●
526. 47355130 c.3168delC p.Thr1057ArgfsTer18 frameshift 0.00000834●●●●●●
527. 47359005 c.2539T>C p.Y847H missense 0.00000834●●●●●●
528. 47355219 c.3079G>C p.D1027H missense 0.00000834●●●●●●
529. 47355128 c.3170C>T p.T1057M missense 0.00000834●●●●●●
530. 47359008 c.2536G>A p.V846I missense 0.00000833●●●●●●
531. 47353813 c.3628-4A>G splice site 0.00000832●●●●●●
532. 47355146 c.3152A>G p.N1051S missense 0.00000832●●●●●●
533. 47353814 c.3628-5T>C splice site 0.00000832●●●●●●
534. 47364299 c.1458-4C>T splice site 0.00000832●●●●●●
535. 47359132 c.2414-2A>G essential splice site 0.00000831●●●●●●
536. 47361347 c.1928-6C>T 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. 47361284 c.1985T>C p.V662A missense 0.00000831●●●●●●
540. 47361327 c.1942C>T p.H648Y missense 0.00000830●●●●●●
541. 47361291 c.1978G>T p.V660L missense 0.00000830●●●●●●
542. 47353795 c.3642G>A p.W1214X nonsense 0.00000830●●●●●●
543. 47355189 c.3109C>G p.R1037G missense 0.00000830●●●●●●
544. 47359101 c.2443_2443insCGA p.Lys814_Ser815insThr inframe 0.00000830●●●●●●
545. 47355171 c.3127T>A p.Y1043N missense 0.00000830●●●●●●
546. 47364284 c.1469G>A p.G490E missense 0.00000830●●●●●●
547. 47355188 c.3110G>A p.R1037H missense 0.00000830●●●●●●
548. 47355171 c.3127T>C p.Y1043H missense 0.00000830●●●●●●
549. 47360068 c.2308+3G>A splice site 0.00000830●●●●●●
550. 47360071 c.2308G>A p.D770N missense 0.00000830●●●●●●
551. 47359118 c.2426A>G p.E809G missense 0.00000830●●●●●●
552. 47355176 c.3122G>A p.G1041D missense 0.00000830●●●●●●
553. 47364254 c.1499A>C p.K500T missense 0.00000829●●●●●●
554. 47359094 c.2450G>C p.R817P missense 0.00000829●●●●●●
555. 47359055 c.2489G>A p.S830N missense 0.00000829●●●●●●
556. 47353740 c.3697C>T p.Q1233X nonsense 0.00000829●●●●●●
557. 47364260 c.1493C>A p.T498N missense 0.00000829●●●●●●
558. 47361309 c.1960C>T p.R654C missense 0.00000829●●●●●●
559. 47353767 c.3670G>A p.D1224N missense 0.00000829●●●●●●
560. 47360959 c.2068-4C>G splice site 0.00000829●●●●●●
561. 47364213 c.1540A>G p.I514V missense 0.00000829●●●●●●
562. 47359062 c.2482G>C p.E828Q missense 0.00000829●●●●●●
563. 47364269 c.1484G>A p.R495Q missense 0.00000829●●●●●●
564. 47364266 c.1487A>G p.E496G missense 0.00000829●●●●●●
565. 47364210 c.1543_1545delAAC inframe 0.00000829●●●●●●
566. 47353770 c.3667G>A p.E1223K missense 0.00000829●●●●●●
567. 47359041 c.2503C>A p.R835S missense 0.00000829●●●●●●
568. 47361314 c.1955C>G p.P652R missense 0.00000829●●●●●●
569. 47364250 c.1503C>G p.Y501X nonsense 0.00000829●●●●●●
570. 47359074 c.2470G>A p.D824N missense 0.00000829●●●●●●
571. 47353769 c.3668A>G p.E1223G missense 0.00000829●●●●●●
572. 47359086 c.2458C>T p.R820W missense 0.00000829●●●●●●
573. 47359053 c.2491C>T p.H831Y missense 0.00000829●●●●●●
574. 47359040 c.2504G>A p.R835H missense 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.