ANKRD1 non-truncating variants in ExAC

ANKRD1 gene summary
ANKRD1 variants in DCM

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