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. 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. 92672650 c.933C>A p.Y311X nonsense 0.00002471●●●●●●
15. 92672702 c.881A>G p.H294R missense 0.00002471●●●●●●
16. 92680002 c.131A>G p.D44G missense 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. 92675537 c.750+2T>C essential splice site 0.00001649●●●●●●
29. 92675567 c.722G>A p.C241Y missense 0.00001649●●●●●●
30. 92675561 c.728C>G p.A243G missense 0.00001649●●●●●●
31. 92675553 c.736A>G p.N246D missense 0.00001649●●●●●●
32. 92680090 c.43A>C p.N15H missense 0.00001648●●●●●●
33. 92679978 c.155delC p.Pro52LeufsTer2 frameshift 0.00001647●●●●●●
34. 92672639 c.944G>T p.R315L missense 0.00001647●●●●●●
35. 92672636 c.947T>C p.I316T missense 0.00001647●●●●●●
36. 92680000 c.133C>G p.L45V missense 0.00001647●●●●●●
37. 92672675 c.908T>G p.F303C missense 0.00001647●●●●●●
38. 92679953 c.180G>A p.W60X nonsense 0.00001647●●●●●●
39. 92672678 c.905T>C p.I302T 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. 92676010 c.569delT p.Ile190ThrfsTer13 frameshift 0.00000827●●●●●●
59. 92676009 c.570C>G p.I190M missense 0.00000827●●●●●●
60. 92675330 c.819G>A p.M273I missense 0.00000826●●●●●●
61. 92677497 c.544C>T p.R182C missense 0.00000826●●●●●●
62. 92680757 c.27+1G>T essential splice site 0.00000826●●●●●●
63. 92677565 c.476G>T p.R159I missense 0.00000826●●●●●●
64. 92675995 c.584G>C p.R195P missense 0.00000826●●●●●●
65. 92675586 c.703G>A p.A235T missense 0.00000826●●●●●●
66. 92677569 c.472C>T p.H158Y missense 0.00000826●●●●●●
67. 92677563 c.478G>A p.A160T missense 0.00000826●●●●●●
68. 92678896 c.337G>T p.E113X nonsense 0.00000826●●●●●●
69. 92675939 c.640G>A p.A214T missense 0.00000826●●●●●●
70. 92678626 c.449A>G p.D150G missense 0.00000826●●●●●●
71. 92675583 c.706G>A p.E236K missense 0.00000826●●●●●●
72. 92680784 c.1A>G p.Met1? missense 0.00000825●●●●●●
73. 92675573 c.716T>C p.I239T missense 0.00000825●●●●●●
74. 92677514 c.527G>A p.G176E missense 0.00000825●●●●●●
75. 92675364 c.785T>G p.L262R missense 0.00000825●●●●●●
76. 92675385 c.764C>T p.P255L missense 0.00000825●●●●●●
77. 92675338 c.811C>A p.L271M missense 0.00000825●●●●●●
78. 92677533 c.508G>A p.E170K missense 0.00000825●●●●●●
79. 92680783 c.2T>A p.Met1? missense 0.00000825●●●●●●
80. 92675570 c.719C>T p.A240V missense 0.00000825●●●●●●
81. 92677503 c.538G>A p.E180K missense 0.00000825●●●●●●
82. 92675353 c.796A>G p.K266E missense 0.00000825●●●●●●
83. 92680783 c.2T>G p.Met1? missense 0.00000825●●●●●●
84. 92675571 c.718G>C p.A240P missense 0.00000825●●●●●●
85. 92677512 c.529G>A p.A177T missense 0.00000825●●●●●●
86. 92672676 c.907T>C p.F303L missense 0.00000824●●●●●●
87. 92680048 c.85A>G p.R29G missense 0.00000824●●●●●●
88. 92679939 c.194A>C p.Q65P missense 0.00000824●●●●●●
89. 92672687 c.896C>A p.T299N missense 0.00000824●●●●●●
90. 92672634 c.949G>C p.A317P missense 0.00000824●●●●●●
91. 92679999 c.134T>A p.L45Q missense 0.00000824●●●●●●
92. 92680023 c.110T>C p.V37A missense 0.00000824●●●●●●
93. 92672656 c.927C>A p.N309K missense 0.00000824●●●●●●
94. 92672654 c.929_931delCCT p.Ser310del inframe 0.00000824●●●●●●
95. 92675539 c.750_750+1delAG essential splice site 0.00000824●●●●●●
96. 92680080 c.53G>C p.G18A missense 0.00000824●●●●●●
97. 92680060 c.73C>T p.P25S missense 0.00000824●●●●●●
98. 92679952 c.181A>G p.K61E missense 0.00000824●●●●●●
99. 92672640 c.943C>T p.R315C missense 0.00000824●●●●●●
100. 92672732 c.851C>G p.A284G missense 0.00000824●●●●●●
101. 92680026 c.107C>T p.A36V missense 0.00000824●●●●●●
102. 92675550 c.739G>A p.A247T missense 0.00000824●●●●●●
103. 92672709 c.874G>C p.V292L missense 0.00000824●●●●●●
104. 92680029 c.104C>T p.A35V missense 0.00000824●●●●●●
105. 92675538 c.750+1G>C essential splice site 0.00000824●●●●●●
106. 92672720 c.863delC p.Pro288ArgfsTer29 frameshift 0.00000824●●●●●●
107. 92680074 c.59C>T p.A20V missense 0.00000824●●●●●●
108. 92680081 c.52G>A p.G18R missense 0.00000824●●●●●●
109. 92672649 c.934A>G p.K312E missense 0.00000824●●●●●●
110. 92679939 c.194_196delAAC p.Q65_R66delinsR inframe 0.00000824●●●●●●
111. 92680041 c.92G>A p.G31E missense 0.00000824●●●●●●
112. 92675559 c.730G>C p.D244H missense 0.00000824●●●●●●
113. 92679937 c.196C>T p.R66X nonsense 0.00000824●●●●●●
114. 92672712 c.871C>A p.L291M missense 0.00000824●●●●●●
115. 92680074 c.59C>A p.A20E missense 0.00000824●●●●●●
116. 92679979 c.154C>T p.P52S missense 0.00000824●●●●●●
117. 92680020 c.113C>T p.T38I 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.