ANKRD1 protein-altering variants in ExAC


The table below lists the ANKRD1 protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 92679011 c.222dupA p.Leu75ThrfsTer8 frameshift 0.00009957
2. 92675331 c.818T>C p.M273T missense 0.00009082
3. 92678626 c.449A>T p.D150V missense 0.00009082
4. 92678999 c.234A>T p.R78S missense 0.00006260
5. 92679946 c.187G>A p.E63K missense 0.00005766
6. 92672639 c.944G>A p.R315H missense 0.00005766
7. 92680001 c.132T>A p.D44E missense 0.00004942
8. 92675311 c.838A>G p.I280V missense 0.00003316
9. 92675329 c.820T>C p.Y274H missense 0.00003303
10. 92680105 c.28G>A p.V10I missense 0.00003296
11. 92677565 c.476G>C p.R159T missense 0.00002478
12. 92675579 c.710A>G p.H237R missense 0.00002476
13. 92675343 c.806G>A p.R269Q missense 0.00002475
14. 92672702 c.881A>G p.H294R missense 0.00002471
15. 92680002 c.131A>G p.D44G missense 0.00002471
16. 92672650 c.933C>A p.Y311X nonsense 0.00002471
17. 92675634 c.655C>T p.L219F missense 0.00001703
18. 92678711 c.364C>G p.P122A missense 0.00001659
19. 92678710 c.365C>T p.P122L missense 0.00001655
20. 92675928 c.651G>T p.K217N missense 0.00001655
21. 92678675 c.400C>T p.P134S missense 0.00001652
22. 92675328 c.821A>G p.Y274C missense 0.00001652
23. 92680780 c.5T>C p.M2T missense 0.00001651
24. 92678887 c.345+1G>T essential splice site 0.00001651
25. 92675996 c.583C>T p.R195C missense 0.00001651
26. 92675954 c.625G>C p.G209R missense 0.00001650
27. 92675355 c.794A>G p.Y265C missense 0.00001650
28. 92675567 c.722G>A p.C241Y missense 0.00001649
29. 92675537 c.750+2T>C essential splice site 0.00001649
30. 92675553 c.736A>G p.N246D missense 0.00001649
31. 92675561 c.728C>G p.A243G missense 0.00001649
32. 92680090 c.43A>C p.N15H missense 0.00001648
33. 92672675 c.908T>G p.F303C missense 0.00001647
34. 92672636 c.947T>C p.I316T missense 0.00001647
35. 92679978 c.155delC p.Pro52LeufsTer2 frameshift 0.00001647
36. 92679953 c.180G>A p.W60X nonsense 0.00001647
37. 92680000 c.133C>G p.L45V missense 0.00001647
38. 92672678 c.905T>C p.I302T missense 0.00001647
39. 92672639 c.944G>T p.R315L missense 0.00001647
40. 92678988 c.245_249delAAAAT p.Glu82ValfsTer5 frameshift 0.00000880
41. 92678976 c.257A>G p.D86G missense 0.00000875
42. 92678974 c.259C>T p.L87F missense 0.00000873
43. 92678973 c.260T>A p.L87H missense 0.00000873
44. 92678962 c.271A>G p.I91V missense 0.00000862
45. 92678729 c.346A>G p.T116A missense 0.00000861
46. 92678949 c.284A>G p.K95R missense 0.00000851
47. 92675631 c.658A>C p.S220R missense 0.00000845
48. 92675622 c.667C>A p.L223M missense 0.00000836
49. 92675619 c.670C>T p.H224Y missense 0.00000834
50. 92675613 c.676G>C p.A226P missense 0.00000832
51. 92678717 c.358G>A p.D120N missense 0.00000831
52. 92676032 c.553-6_553-1dupGTATAG nonsense 0.00000829
53. 92677580 c.461G>A p.R154Q missense 0.00000828
54. 92675592 c.697G>C p.E233Q missense 0.00000828
55. 92677581 c.460C>T p.R154W missense 0.00000828
56. 92677583 c.458A>C p.K153T missense 0.00000828
57. 92676009 c.570C>G p.I190M missense 0.00000827
58. 92676010 c.569delT p.Ile190ThrfsTer13 frameshift 0.00000827
59. 92677575 c.466G>A p.A156T missense 0.00000827
60. 92675583 c.706G>A p.E236K missense 0.00000826
61. 92678896 c.337G>T p.E113X nonsense 0.00000826
62. 92675939 c.640G>A p.A214T missense 0.00000826
63. 92677569 c.472C>T p.H158Y missense 0.00000826
64. 92677565 c.476G>T p.R159I missense 0.00000826
65. 92677497 c.544C>T p.R182C missense 0.00000826
66. 92675995 c.584G>C p.R195P missense 0.00000826
67. 92680757 c.27+1G>T essential splice site 0.00000826
68. 92675330 c.819G>A p.M273I missense 0.00000826
69. 92675586 c.703G>A p.A235T missense 0.00000826
70. 92678626 c.449A>G p.D150G missense 0.00000826
71. 92677563 c.478G>A p.A160T missense 0.00000826
72. 92675570 c.719C>T p.A240V missense 0.00000825
73. 92675338 c.811C>A p.L271M missense 0.00000825
74. 92680783 c.2T>A p.Met1? missense 0.00000825
75. 92677512 c.529G>A p.A177T missense 0.00000825
76. 92675385 c.764C>T p.P255L missense 0.00000825
77. 92675571 c.718G>C p.A240P missense 0.00000825
78. 92680783 c.2T>G p.Met1? missense 0.00000825
79. 92675353 c.796A>G p.K266E missense 0.00000825
80. 92677514 c.527G>A p.G176E missense 0.00000825
81. 92675573 c.716T>C p.I239T missense 0.00000825
82. 92680784 c.1A>G p.Met1? missense 0.00000825
83. 92677533 c.508G>A p.E170K missense 0.00000825
84. 92677503 c.538G>A p.E180K missense 0.00000825
85. 92675364 c.785T>G p.L262R missense 0.00000825
86. 92675538 c.750+1G>C essential splice site 0.00000824
87. 92680060 c.73C>T p.P25S missense 0.00000824
88. 92672656 c.927C>A p.N309K missense 0.00000824
89. 92679999 c.134T>A p.L45Q missense 0.00000824
90. 92672634 c.949G>C p.A317P missense 0.00000824
91. 92672720 c.863delC p.Pro288ArgfsTer29 frameshift 0.00000824
92. 92675550 c.739G>A p.A247T missense 0.00000824
93. 92680081 c.52G>A p.G18R missense 0.00000824
94. 92672709 c.874G>C p.V292L missense 0.00000824
95. 92680026 c.107C>T p.A36V missense 0.00000824
96. 92672640 c.943C>T p.R315C missense 0.00000824
97. 92679952 c.181A>G p.K61E missense 0.00000824
98. 92672676 c.907T>C p.F303L missense 0.00000824
99. 92680074 c.59C>T p.A20V missense 0.00000824
100. 92675559 c.730G>C p.D244H missense 0.00000824
101. 92672712 c.871C>A p.L291M missense 0.00000824
102. 92680041 c.92G>A p.G31E missense 0.00000824
103. 92672649 c.934A>G p.K312E missense 0.00000824
104. 92680029 c.104C>T p.A35V missense 0.00000824
105. 92672732 c.851C>G p.A284G missense 0.00000824
106. 92680074 c.59C>A p.A20E missense 0.00000824
107. 92680020 c.113C>T p.T38I missense 0.00000824
108. 92679937 c.196C>T p.R66X nonsense 0.00000824
109. 92679939 c.194_196delAAC p.Q65_R66delinsR inframe 0.00000824
110. 92675539 c.750_750+1delAG essential splice site 0.00000824
111. 92680048 c.85A>G p.R29G missense 0.00000824
112. 92679979 c.154C>T p.P52S missense 0.00000824
113. 92672654 c.929_931delCCT p.Ser310del inframe 0.00000824
114. 92672687 c.896C>A p.T299N missense 0.00000824
115. 92680080 c.53G>C p.G18A missense 0.00000824
116. 92680023 c.110T>C p.V37A missense 0.00000824
117. 92679939 c.194A>C p.Q65P 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.