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

* 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.