TCP1 missense variants in ExAC

TCP1 gene summary
TCP1 variants in

The table below lists the TCP1 missense 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. 160205818 c.550A>G p.I184V missense 0.00168852●●●●●●
2. 160201577 c.995C>G p.A332G missense 0.00042097●●●●●●
3. 160205039 c.731C>A p.T244K missense 0.00027190●●●●●●
4. 160210490 c.11C>T p.P4L missense 0.00020874●●●●●●
5. 160207023 c.286A>G p.I96V missense 0.00017602●●●●●●
6. 160202072 c.868G>A p.G290S missense 0.00016484●●●●●●
7. 160205082 c.688G>A p.V230I missense 0.00011562●●●●●●
8. 160201045 c.1172C>G p.S391C missense 0.00008280●●●●●●
9. 160206428 c.478A>G p.I160V missense 0.00007415●●●●●●
10. 160208804 c.250A>G p.K84E missense 0.00006592●●●●●●
11. 160200674 c.1439G>A p.R480H missense 0.00005851●●●●●●
12. 160201048 c.1169G>A p.R390H missense 0.00005797●●●●●●
13. 160208876 c.178A>G p.T60A missense 0.00005773●●●●●●
14. 160201024 c.1193T>C p.V398A missense 0.00004968●●●●●●
15. 160206518 c.388C>T p.R130C missense 0.00004943●●●●●●
16. 160200986 c.1231G>A p.G411S missense 0.00004140●●●●●●
17. 160209112 c.128A>G p.K43R missense 0.00004121●●●●●●
18. 160201523 c.1049A>T p.E350V missense 0.00004119●●●●●●
19. 160206517 c.389G>A p.R130H missense 0.00004119●●●●●●
20. 160200109 c.1639G>A p.D547N missense 0.00003304●●●●●●
21. 160206509 c.397A>G p.N133D missense 0.00003295●●●●●●
22. 160201987 c.953G>A p.R318H missense 0.00002510●●●●●●
23. 160200273 c.1475A>G p.N492S missense 0.00002490●●●●●●
24. 160201034 c.1183G>A p.A395T missense 0.00002484●●●●●●
25. 160209172 c.68T>C p.M23T missense 0.00002483●●●●●●
26. 160202101 c.839C>T p.A280V missense 0.00002479●●●●●●
27. 160200124 c.1624C>T p.H542Y missense 0.00002476●●●●●●
28. 160201517 c.1055T>C p.V352A missense 0.00002472●●●●●●
29. 160205802 c.566G>A p.R189H missense 0.00002471●●●●●●
30. 160206436 c.470C>T p.S157F missense 0.00002471●●●●●●
31. 160210470 c.31C>A p.R11S missense 0.00001672●●●●●●
32. 160202134 c.806A>G p.D269G missense 0.00001668●●●●●●
33. 160200677 c.1436A>G p.E479G missense 0.00001665●●●●●●
34. 160200286 c.1462C>T p.L488F missense 0.00001663●●●●●●
35. 160201596 c.976A>G p.T326A missense 0.00001658●●●●●●
36. 160201066 c.1151T>C p.M384T missense 0.00001657●●●●●●
37. 160200261 c.1487G>A p.R496Q missense 0.00001657●●●●●●
38. 160200096 c.1652C>T p.S551F missense 0.00001655●●●●●●
39. 160200942 c.1275C>G p.N425K missense 0.00001654●●●●●●
40. 160200956 c.1261A>G p.I421V missense 0.00001654●●●●●●
41. 160202089 c.851A>G p.N284S missense 0.00001651●●●●●●
42. 160202087 c.853G>A p.V285I missense 0.00001650●●●●●●
43. 160204996 c.774A>T p.E258D missense 0.00001649●●●●●●
44. 160205715 c.653G>T p.C218F missense 0.00001649●●●●●●
45. 160202083 c.857T>C p.I286T missense 0.00001649●●●●●●
46. 160206508 c.398A>G p.N133S missense 0.00001648●●●●●●
47. 160205857 c.511A>G p.M171V missense 0.00001648●●●●●●
48. 160202044 c.896A>G p.Y299C missense 0.00001648●●●●●●
49. 160206484 c.422A>G p.D141G missense 0.00001647●●●●●●
50. 160201978 c.962A>G p.K321R missense 0.00000844●●●●●●
51. 160210448 c.53G>A p.R18H missense 0.00000840●●●●●●
52. 160210454 c.47C>T p.T16M missense 0.00000839●●●●●●
53. 160210470 c.31C>T p.R11C missense 0.00000836●●●●●●
54. 160210473 c.28G>T p.D10Y missense 0.00000835●●●●●●
55. 160201988 c.952C>T p.R318C missense 0.00000834●●●●●●
56. 160202135 c.805G>T p.D269Y missense 0.00000834●●●●●●
57. 160202130 c.810C>G p.I270M missense 0.00000833●●●●●●
58. 160200278 c.1470G>C p.L490F missense 0.00000831●●●●●●
59. 160206999 c.310G>A p.A104T missense 0.00000831●●●●●●
60. 160205096 c.674T>C p.M225T missense 0.00000830●●●●●●
61. 160206944 c.365G>A p.R122Q missense 0.00000830●●●●●●
62. 160201105 c.1112C>T p.T371M missense 0.00000830●●●●●●
63. 160202120 c.820A>G p.R274G missense 0.00000830●●●●●●
64. 160201109 c.1108C>T p.R370C missense 0.00000830●●●●●●
65. 160206942 c.367C>G p.L123V missense 0.00000830●●●●●●
66. 160200084 c.1664A>G p.N555S missense 0.00000830●●●●●●
67. 160200815 c.1298G>A p.R433Q missense 0.00000829●●●●●●
68. 160200816 c.1297C>T p.R433W missense 0.00000829●●●●●●
69. 160201997 c.943G>A p.D315N missense 0.00000829●●●●●●
70. 160201084 c.1133G>A p.R378H missense 0.00000829●●●●●●
71. 160201022 c.1195G>T p.V399L missense 0.00000828●●●●●●
72. 160201049 c.1168C>T p.R390C missense 0.00000828●●●●●●
73. 160200982 c.1235G>C p.G412A missense 0.00000828●●●●●●
74. 160201067 c.1150A>G p.M384V missense 0.00000828●●●●●●
75. 160200255 c.1493A>G p.N498S missense 0.00000828●●●●●●
76. 160201014 c.1203A>T p.R401S missense 0.00000828●●●●●●
77. 160200977 c.1240G>A p.A414T missense 0.00000828●●●●●●
78. 160201039 c.1178A>G p.H393R missense 0.00000828●●●●●●
79. 160201999 c.941G>A p.R314K missense 0.00000828●●●●●●
80. 160201589 c.983T>C p.L328P missense 0.00000827●●●●●●
81. 160200097 c.1651T>C p.S551P missense 0.00000827●●●●●●
82. 160200103 c.1645G>A p.V549I missense 0.00000827●●●●●●
83. 160200940 c.1277A>C p.Y426S missense 0.00000827●●●●●●
84. 160200789 c.1324G>T p.A442S missense 0.00000826●●●●●●
85. 160200106 c.1642G>T p.A548S missense 0.00000826●●●●●●
86. 160202008 c.932T>C p.V311A missense 0.00000826●●●●●●
87. 160200114 c.1634A>G p.Y545C missense 0.00000826●●●●●●
88. 160200144 c.1604C>T p.P535L missense 0.00000825●●●●●●
89. 160200148 c.1600C>A p.H534N missense 0.00000825●●●●●●
90. 160200723 c.1390G>C p.V464L missense 0.00000825●●●●●●
91. 160200213 c.1535A>G p.K512R missense 0.00000825●●●●●●
92. 160200764 c.1349A>G p.N450S missense 0.00000825●●●●●●
93. 160202089 c.851A>C p.N284T missense 0.00000825●●●●●●
94. 160202022 c.918G>A p.M306I missense 0.00000825●●●●●●
95. 160200765 c.1348A>T p.N450Y missense 0.00000825●●●●●●
96. 160200133 c.1615G>A p.D539N missense 0.00000825●●●●●●
97. 160200707 c.1406C>T p.A469V missense 0.00000825●●●●●●
98. 160209095 c.145A>G p.I49V missense 0.00000824●●●●●●
99. 160201542 c.1030A>G p.M344V missense 0.00000824●●●●●●
100. 160208813 c.241C>A p.L81M missense 0.00000824●●●●●●
101. 160206505 c.401A>T p.E134V missense 0.00000824●●●●●●
102. 160206436 c.470C>G p.S157C missense 0.00000824●●●●●●
103. 160205739 c.629T>C p.L210P missense 0.00000824●●●●●●
104. 160206440 c.466A>G p.M156V missense 0.00000824●●●●●●
105. 160205875 c.493G>C p.G165R missense 0.00000824●●●●●●
106. 160205013 c.757G>A p.V253I missense 0.00000824●●●●●●
107. 160202046 c.894G>C p.K298N missense 0.00000824●●●●●●
108. 160201522 c.1050A>T p.E350D missense 0.00000824●●●●●●
109. 160209097 c.143A>T p.D48V missense 0.00000824●●●●●●
110. 160201548 c.1024G>A p.A342T missense 0.00000824●●●●●●
111. 160206505 c.401A>G p.E134G missense 0.00000824●●●●●●
112. 160206439 c.467T>C p.M156T missense 0.00000824●●●●●●
113. 160208837 c.217A>G p.K73E missense 0.00000824●●●●●●
114. 160208836 c.218A>G p.K73R missense 0.00000824●●●●●●
115. 160206475 c.431G>A p.G144E missense 0.00000824●●●●●●
116. 160205875 c.493G>A p.G165S missense 0.00000824●●●●●●
117. 160205030 c.740A>C p.K247T missense 0.00000824●●●●●●
118. 160202081 c.859C>G p.L287V missense 0.00000824●●●●●●
119. 160201529 c.1043C>G p.A348G missense 0.00000824●●●●●●
120. 160205006 c.764C>T p.T255I missense 0.00000824●●●●●●
121. 160201553 c.1019T>C p.F340S missense 0.00000824●●●●●●
122. 160205831 c.537T>G p.I179M missense 0.00000824●●●●●●
123. 160205718 c.650A>G p.N217S missense 0.00000824●●●●●●
124. 160201482 c.1090A>C p.I364L missense 0.00000824●●●●●●
125. 160205040 c.730A>G p.T244A missense 0.00000824●●●●●●
126. 160205779 c.589A>G p.I197V missense 0.00000824●●●●●●
127. 160205845 c.523G>A p.A175T missense 0.00000824●●●●●●

* 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.