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 | ●●●●●● |