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