MYBPC3 variants in ExAC


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 frequencyPopulations*
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