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. 92672639 c.944G>A p.R315H missense 0.00005766
6. 92679946 c.187G>A p.E63K 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. 92680002 c.131A>G p.D44G missense 0.00002471
15. 92672650 c.933C>A p.Y311X nonsense 0.00002471
16. 92672702 c.881A>G p.H294R missense 0.00002471
17. 92675634 c.655C>T p.L219F missense 0.00001703
18. 92678711 c.364C>G p.P122A missense 0.00001659
19. 92675928 c.651G>T p.K217N missense 0.00001655
20. 92678710 c.365C>T p.P122L missense 0.00001655
21. 92675328 c.821A>G p.Y274C missense 0.00001652
22. 92678675 c.400C>T p.P134S missense 0.00001652
23. 92678887 c.345+1G>T essential splice site 0.00001651
24. 92675996 c.583C>T p.R195C missense 0.00001651
25. 92680780 c.5T>C p.M2T missense 0.00001651
26. 92675355 c.794A>G p.Y265C missense 0.00001650
27. 92675954 c.625G>C p.G209R missense 0.00001650
28. 92675553 c.736A>G p.N246D missense 0.00001649
29. 92675537 c.750+2T>C essential splice site 0.00001649
30. 92675567 c.722G>A p.C241Y missense 0.00001649
31. 92675561 c.728C>G p.A243G missense 0.00001649
32. 92680090 c.43A>C p.N15H missense 0.00001648
33. 92672636 c.947T>C p.I316T missense 0.00001647
34. 92680000 c.133C>G p.L45V missense 0.00001647
35. 92672675 c.908T>G p.F303C missense 0.00001647
36. 92679953 c.180G>A p.W60X nonsense 0.00001647
37. 92672678 c.905T>C p.I302T missense 0.00001647
38. 92679978 c.155delC p.Pro52LeufsTer2 frameshift 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. 92678973 c.260T>A p.L87H missense 0.00000873
43. 92678974 c.259C>T p.L87F 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. 92677581 c.460C>T p.R154W missense 0.00000828
54. 92677583 c.458A>C p.K153T missense 0.00000828
55. 92675592 c.697G>C p.E233Q missense 0.00000828
56. 92677580 c.461G>A p.R154Q missense 0.00000828
57. 92677575 c.466G>A p.A156T missense 0.00000827
58. 92676009 c.570C>G p.I190M missense 0.00000827
59. 92676010 c.569delT p.Ile190ThrfsTer13 frameshift 0.00000827
60. 92680757 c.27+1G>T essential splice site 0.00000826
61. 92677565 c.476G>T p.R159I missense 0.00000826
62. 92675995 c.584G>C p.R195P missense 0.00000826
63. 92675586 c.703G>A p.A235T missense 0.00000826
64. 92677569 c.472C>T p.H158Y missense 0.00000826
65. 92677563 c.478G>A p.A160T missense 0.00000826
66. 92675939 c.640G>A p.A214T missense 0.00000826
67. 92678896 c.337G>T p.E113X nonsense 0.00000826
68. 92678626 c.449A>G p.D150G missense 0.00000826
69. 92675583 c.706G>A p.E236K missense 0.00000826
70. 92675330 c.819G>A p.M273I missense 0.00000826
71. 92677497 c.544C>T p.R182C missense 0.00000826
72. 92675385 c.764C>T p.P255L missense 0.00000825
73. 92675338 c.811C>A p.L271M missense 0.00000825
74. 92677533 c.508G>A p.E170K missense 0.00000825
75. 92680783 c.2T>A p.Met1? missense 0.00000825
76. 92675570 c.719C>T p.A240V missense 0.00000825
77. 92677503 c.538G>A p.E180K missense 0.00000825
78. 92675353 c.796A>G p.K266E missense 0.00000825
79. 92680783 c.2T>G p.Met1? missense 0.00000825
80. 92675571 c.718G>C p.A240P missense 0.00000825
81. 92677512 c.529G>A p.A177T missense 0.00000825
82. 92680784 c.1A>G p.Met1? missense 0.00000825
83. 92675573 c.716T>C p.I239T missense 0.00000825
84. 92677514 c.527G>A p.G176E missense 0.00000825
85. 92675364 c.785T>G p.L262R missense 0.00000825
86. 92675539 c.750_750+1delAG essential splice site 0.00000824
87. 92672654 c.929_931delCCT p.Ser310del inframe 0.00000824
88. 92680080 c.53G>C p.G18A missense 0.00000824
89. 92680060 c.73C>T p.P25S missense 0.00000824
90. 92679952 c.181A>G p.K61E missense 0.00000824
91. 92672640 c.943C>T p.R315C missense 0.00000824
92. 92672732 c.851C>G p.A284G missense 0.00000824
93. 92675550 c.739G>A p.A247T missense 0.00000824
94. 92680026 c.107C>T p.A36V missense 0.00000824
95. 92672709 c.874G>C p.V292L missense 0.00000824
96. 92680029 c.104C>T p.A35V missense 0.00000824
97. 92675538 c.750+1G>C essential splice site 0.00000824
98. 92672720 c.863delC p.Pro288ArgfsTer29 frameshift 0.00000824
99. 92680081 c.52G>A p.G18R missense 0.00000824
100. 92680074 c.59C>T p.A20V missense 0.00000824
101. 92672649 c.934A>G p.K312E missense 0.00000824
102. 92679939 c.194_196delAAC p.Q65_R66delinsR inframe 0.00000824
103. 92675559 c.730G>C p.D244H missense 0.00000824
104. 92680041 c.92G>A p.G31E missense 0.00000824
105. 92679937 c.196C>T p.R66X nonsense 0.00000824
106. 92672712 c.871C>A p.L291M missense 0.00000824
107. 92680074 c.59C>A p.A20E missense 0.00000824
108. 92680020 c.113C>T p.T38I missense 0.00000824
109. 92679979 c.154C>T p.P52S missense 0.00000824
110. 92672676 c.907T>C p.F303L missense 0.00000824
111. 92680048 c.85A>G p.R29G missense 0.00000824
112. 92672687 c.896C>A p.T299N missense 0.00000824
113. 92679939 c.194A>C p.Q65P missense 0.00000824
114. 92672634 c.949G>C p.A317P missense 0.00000824
115. 92680023 c.110T>C p.V37A missense 0.00000824
116. 92679999 c.134T>A p.L45Q missense 0.00000824
117. 92672656 c.927C>A p.N309K 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.