ANKRD1 missense variants in ExAC

ANKRD1 gene summary
ANKRD1 variants in DCM

The table below lists the ANKRD1 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. 92675322 c.827C>T p.A276V missense 0.00286135●●●●●●
2. 92679937 c.196C>G p.R66G missense 0.00142506●●●●●●
3. 92679985 c.148G>C p.A50P missense 0.00109559●●●●●●
4. 92679936 c.197G>A p.R66Q missense 0.00095549●●●●●●
5. 92678914 c.319G>T p.V107L missense 0.00072025●●●●●●
6. 92676019 c.560C>T p.S187F missense 0.00068689●●●●●●
7. 92678658 c.417C>A p.F139L missense 0.00042928●●●●●●
8. 92678977 c.256G>C p.D86H missense 0.00033291●●●●●●
9. 92678920 c.313C>T p.P105S missense 0.00023231●●●●●●
10. 92678707 c.368C>T p.T123M missense 0.00023200●●●●●●
11. 92678728 c.347C>T p.T116M missense 0.00015055●●●●●●
12. 92677496 c.545G>A p.R182H missense 0.00010738●●●●●●
13. 92680782 c.3G>C p.M1I missense 0.00010731●●●●●●
14. 92679979 c.154C>G p.P52A missense 0.00010708●●●●●●
15. 92675331 c.818T>C p.M273T missense 0.00009082●●●●●●
16. 92678626 c.449A>T p.D150V missense 0.00009082●●●●●●
17. 92678999 c.234A>T p.R78S missense 0.00006260●●●●●●
18. 92672639 c.944G>A p.R315H missense 0.00005766●●●●●●
19. 92679946 c.187G>A p.E63K missense 0.00005766●●●●●●
20. 92680001 c.132T>A p.D44E missense 0.00004942●●●●●●
21. 92675311 c.838A>G p.I280V missense 0.00003316●●●●●●
22. 92675329 c.820T>C p.Y274H missense 0.00003303●●●●●●
23. 92680105 c.28G>A p.V10I missense 0.00003296●●●●●●
24. 92677565 c.476G>C p.R159T missense 0.00002478●●●●●●
25. 92675579 c.710A>G p.H237R missense 0.00002476●●●●●●
26. 92675343 c.806G>A p.R269Q missense 0.00002475●●●●●●
27. 92672702 c.881A>G p.H294R missense 0.00002471●●●●●●
28. 92680002 c.131A>G p.D44G missense 0.00002471●●●●●●
29. 92675634 c.655C>T p.L219F missense 0.00001703●●●●●●
30. 92678711 c.364C>G p.P122A missense 0.00001659●●●●●●
31. 92678710 c.365C>T p.P122L missense 0.00001655●●●●●●
32. 92675928 c.651G>T p.K217N missense 0.00001655●●●●●●
33. 92678675 c.400C>T p.P134S missense 0.00001652●●●●●●
34. 92675328 c.821A>G p.Y274C missense 0.00001652●●●●●●
35. 92675996 c.583C>T p.R195C missense 0.00001651●●●●●●
36. 92680780 c.5T>C p.M2T missense 0.00001651●●●●●●
37. 92675355 c.794A>G p.Y265C missense 0.00001650●●●●●●
38. 92675954 c.625G>C p.G209R missense 0.00001650●●●●●●
39. 92675561 c.728C>G p.A243G missense 0.00001649●●●●●●
40. 92675553 c.736A>G p.N246D missense 0.00001649●●●●●●
41. 92675567 c.722G>A p.C241Y missense 0.00001649●●●●●●
42. 92680090 c.43A>C p.N15H missense 0.00001648●●●●●●
43. 92672678 c.905T>C p.I302T missense 0.00001647●●●●●●
44. 92672636 c.947T>C p.I316T missense 0.00001647●●●●●●
45. 92680000 c.133C>G p.L45V missense 0.00001647●●●●●●
46. 92672639 c.944G>T p.R315L missense 0.00001647●●●●●●
47. 92672675 c.908T>G p.F303C missense 0.00001647●●●●●●
48. 92678976 c.257A>G p.D86G missense 0.00000875●●●●●●
49. 92678973 c.260T>A p.L87H missense 0.00000873●●●●●●
50. 92678974 c.259C>T p.L87F missense 0.00000873●●●●●●
51. 92678962 c.271A>G p.I91V missense 0.00000862●●●●●●
52. 92678729 c.346A>G p.T116A missense 0.00000861●●●●●●
53. 92678949 c.284A>G p.K95R missense 0.00000851●●●●●●
54. 92675631 c.658A>C p.S220R missense 0.00000845●●●●●●
55. 92675622 c.667C>A p.L223M missense 0.00000836●●●●●●
56. 92675619 c.670C>T p.H224Y missense 0.00000834●●●●●●
57. 92675613 c.676G>C p.A226P missense 0.00000832●●●●●●
58. 92678717 c.358G>A p.D120N missense 0.00000831●●●●●●
59. 92677580 c.461G>A p.R154Q missense 0.00000828●●●●●●
60. 92677581 c.460C>T p.R154W missense 0.00000828●●●●●●
61. 92677583 c.458A>C p.K153T missense 0.00000828●●●●●●
62. 92675592 c.697G>C p.E233Q missense 0.00000828●●●●●●
63. 92676009 c.570C>G p.I190M missense 0.00000827●●●●●●
64. 92677575 c.466G>A p.A156T missense 0.00000827●●●●●●
65. 92678626 c.449A>G p.D150G missense 0.00000826●●●●●●
66. 92675330 c.819G>A p.M273I missense 0.00000826●●●●●●
67. 92677565 c.476G>T p.R159I missense 0.00000826●●●●●●
68. 92675995 c.584G>C p.R195P missense 0.00000826●●●●●●
69. 92677497 c.544C>T p.R182C missense 0.00000826●●●●●●
70. 92675586 c.703G>A p.A235T missense 0.00000826●●●●●●
71. 92677569 c.472C>T p.H158Y missense 0.00000826●●●●●●
72. 92675583 c.706G>A p.E236K missense 0.00000826●●●●●●
73. 92677563 c.478G>A p.A160T missense 0.00000826●●●●●●
74. 92675939 c.640G>A p.A214T missense 0.00000826●●●●●●
75. 92677512 c.529G>A p.A177T missense 0.00000825●●●●●●
76. 92680783 c.2T>A p.Met1? missense 0.00000825●●●●●●
77. 92675573 c.716T>C p.I239T missense 0.00000825●●●●●●
78. 92677514 c.527G>A p.G176E missense 0.00000825●●●●●●
79. 92680783 c.2T>G p.Met1? missense 0.00000825●●●●●●
80. 92675364 c.785T>G p.L262R missense 0.00000825●●●●●●
81. 92675338 c.811C>A p.L271M missense 0.00000825●●●●●●
82. 92677533 c.508G>A p.E170K missense 0.00000825●●●●●●
83. 92680784 c.1A>G p.Met1? missense 0.00000825●●●●●●
84. 92675570 c.719C>T p.A240V missense 0.00000825●●●●●●
85. 92677503 c.538G>A p.E180K missense 0.00000825●●●●●●
86. 92675353 c.796A>G p.K266E missense 0.00000825●●●●●●
87. 92675385 c.764C>T p.P255L missense 0.00000825●●●●●●
88. 92675571 c.718G>C p.A240P missense 0.00000825●●●●●●
89. 92679939 c.194A>C p.Q65P missense 0.00000824●●●●●●
90. 92672712 c.871C>A p.L291M missense 0.00000824●●●●●●
91. 92680029 c.104C>T p.A35V missense 0.00000824●●●●●●
92. 92680026 c.107C>T p.A36V missense 0.00000824●●●●●●
93. 92675559 c.730G>C p.D244H missense 0.00000824●●●●●●
94. 92672649 c.934A>G p.K312E missense 0.00000824●●●●●●
95. 92680081 c.52G>A p.G18R missense 0.00000824●●●●●●
96. 92680074 c.59C>T p.A20V missense 0.00000824●●●●●●
97. 92679952 c.181A>G p.K61E missense 0.00000824●●●●●●
98. 92672732 c.851C>G p.A284G missense 0.00000824●●●●●●
99. 92680041 c.92G>A p.G31E missense 0.00000824●●●●●●
100. 92672687 c.896C>A p.T299N missense 0.00000824●●●●●●
101. 92672656 c.927C>A p.N309K missense 0.00000824●●●●●●
102. 92680074 c.59C>A p.A20E missense 0.00000824●●●●●●
103. 92680020 c.113C>T p.T38I missense 0.00000824●●●●●●
104. 92679979 c.154C>T p.P52S missense 0.00000824●●●●●●
105. 92675550 c.739G>A p.A247T missense 0.00000824●●●●●●
106. 92680048 c.85A>G p.R29G missense 0.00000824●●●●●●
107. 92672709 c.874G>C p.V292L missense 0.00000824●●●●●●
108. 92672634 c.949G>C p.A317P missense 0.00000824●●●●●●
109. 92680080 c.53G>C p.G18A missense 0.00000824●●●●●●
110. 92680023 c.110T>C p.V37A missense 0.00000824●●●●●●
111. 92679999 c.134T>A p.L45Q missense 0.00000824●●●●●●
112. 92672640 c.943C>T p.R315C missense 0.00000824●●●●●●
113. 92672676 c.907T>C p.F303L missense 0.00000824●●●●●●
114. 92680060 c.73C>T p.P25S 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.