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●●●●●●