ANKRD1 protein-altering variants in ExAC

ANKRD1 gene summary
ANKRD1 variants in DCM

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