ANKRD1 variants in ExAC

ANKRD1 gene summary
ANKRD1 variants in DCM

The table below lists the ANKRD1 variants found in the ExAC population database. 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. 92678727 c.348G>A p.T116T splice site 0.01245947●●●●●●
2. 92675322 c.827C>T p.A276V missense 0.00286135●●●●●●
3. 92679937 c.196C>G p.R66G missense 0.00142506●●●●●●
4. 92679985 c.148G>C p.A50P missense 0.00109559●●●●●●
5. 92679936 c.197G>A p.R66Q missense 0.00095549●●●●●●
6. 92678914 c.319G>T p.V107L missense 0.00072025●●●●●●
7. 92676019 c.560C>T p.S187F missense 0.00068689●●●●●●
8. 92678658 c.417C>A p.F139L missense 0.00042928●●●●●●
9. 92678977 c.256G>C p.D86H missense 0.00033291●●●●●●
10. 92675647 c.652-10A>T splice site 0.00024556●●●●●●
11. 92678920 c.313C>T p.P105S missense 0.00023231●●●●●●
12. 92678707 c.368C>T p.T123M missense 0.00023200●●●●●●
13. 92678728 c.347C>T p.T116M missense 0.00015055●●●●●●
14. 92677496 c.545G>A p.R182H missense 0.00010738●●●●●●
15. 92680782 c.3G>C p.M1I missense 0.00010731●●●●●●
16. 92679979 c.154C>G p.P52A missense 0.00010708●●●●●●
17. 92679011 c.222dupA p.Leu75ThrfsTer8 frameshift 0.00009957●●●●●●
18. 92678626 c.449A>T p.D150V missense 0.00009082●●●●●●
19. 92675331 c.818T>C p.M273T missense 0.00009082●●●●●●
20. 92675402 c.751-4C>A splice site 0.00006598●●●●●●
21. 92678999 c.234A>T p.R78S missense 0.00006260●●●●●●
22. 92679946 c.187G>A p.E63K missense 0.00005766●●●●●●
23. 92672639 c.944G>A p.R315H missense 0.00005766●●●●●●
24. 92680001 c.132T>A p.D44E missense 0.00004942●●●●●●
25. 92680108 c.28-3T>C splice site 0.00004120●●●●●●
26. 92675311 c.838A>G p.I280V missense 0.00003316●●●●●●
27. 92675924 c.651+4T>A splice site 0.00003315●●●●●●
28. 92675329 c.820T>C p.Y274H missense 0.00003303●●●●●●
29. 92680105 c.28G>A p.V10I missense 0.00003296●●●●●●
30. 92680111 c.28-6T>C splice site 0.00003296●●●●●●
31. 92675922 c.651+6C>T splice site 0.00002488●●●●●●
32. 92678614 c.453+8T>C splice site 0.00002478●●●●●●
33. 92680754 c.27+4T>A splice site 0.00002478●●●●●●
34. 92677565 c.476G>C p.R159T missense 0.00002478●●●●●●
35. 92675579 c.710A>G p.H237R missense 0.00002476●●●●●●
36. 92675343 c.806G>A p.R269Q missense 0.00002475●●●●●●
37. 92675534 c.750+5G>A splice site 0.00002473●●●●●●
38. 92672702 c.881A>G p.H294R missense 0.00002471●●●●●●
39. 92672650 c.933C>A p.Y311X nonsense 0.00002471●●●●●●
40. 92680002 c.131A>G p.D44G missense 0.00002471●●●●●●
41. 92675634 c.655C>T p.L219F missense 0.00001703●●●●●●
42. 92678711 c.364C>G p.P122A missense 0.00001659●●●●●●
43. 92675928 c.651G>T p.K217N missense 0.00001655●●●●●●
44. 92678710 c.365C>T p.P122L missense 0.00001655●●●●●●
45. 92675328 c.821A>G p.Y274C missense 0.00001652●●●●●●
46. 92678675 c.400C>T p.P134S missense 0.00001652●●●●●●
47. 92675996 c.583C>T p.R195C missense 0.00001651●●●●●●
48. 92680780 c.5T>C p.M2T missense 0.00001651●●●●●●
49. 92678887 c.345+1G>T essential splice site 0.00001651●●●●●●
50. 92678622 c.453G>A splice site 0.00001651●●●●●●
51. 92675355 c.794A>G p.Y265C missense 0.00001650●●●●●●
52. 92675954 c.625G>C p.G209R missense 0.00001650●●●●●●
53. 92675567 c.722G>A p.C241Y missense 0.00001649●●●●●●
54. 92675553 c.736A>G p.N246D missense 0.00001649●●●●●●
55. 92675561 c.728C>G p.A243G missense 0.00001649●●●●●●
56. 92675537 c.750+2T>C essential splice site 0.00001649●●●●●●
57. 92680090 c.43A>C p.N15H missense 0.00001648●●●●●●
58. 92680000 c.133C>G p.L45V missense 0.00001647●●●●●●
59. 92672636 c.947T>C p.I316T missense 0.00001647●●●●●●
60. 92672639 c.944G>T p.R315L missense 0.00001647●●●●●●
61. 92672675 c.908T>G p.F303C missense 0.00001647●●●●●●
62. 92672678 c.905T>C p.I302T missense 0.00001647●●●●●●
63. 92679953 c.180G>A p.W60X nonsense 0.00001647●●●●●●
64. 92679978 c.155delC p.Pro52LeufsTer2 frameshift 0.00001647●●●●●●
65. 92675645 c.652-8T>C splice site 0.00000921●●●●●●
66. 92678988 c.245_249delAAAAT p.Glu82ValfsTer5 frameshift 0.00000880●●●●●●
67. 92678976 c.257A>G p.D86G missense 0.00000875●●●●●●
68. 92678973 c.260T>A p.L87H missense 0.00000873●●●●●●
69. 92678974 c.259C>T p.L87F missense 0.00000873●●●●●●
70. 92678962 c.271A>G p.I91V missense 0.00000862●●●●●●
71. 92678729 c.346A>G p.T116A missense 0.00000861●●●●●●
72. 92678949 c.284A>G p.K95R missense 0.00000851●●●●●●
73. 92675631 c.658A>C p.S220R missense 0.00000845●●●●●●
74. 92675294 c.849+6T>C splice site 0.00000837●●●●●●
75. 92675622 c.667C>A p.L223M missense 0.00000836●●●●●●
76. 92675619 c.670C>T p.H224Y missense 0.00000834●●●●●●
77. 92675613 c.676G>C p.A226P missense 0.00000832●●●●●●
78. 92678717 c.358G>A p.D120N missense 0.00000831●●●●●●
79. 92677482 c.552+7_552+10delATAT splice site 0.00000830●●●●●●
80. 92676032 c.553-6_553-1dupGTATAG nonsense 0.00000829●●●●●●
81. 92675922 c.651+6C>A splice site 0.00000829●●●●●●
82. 92675923 c.651+5T>C splice site 0.00000829●●●●●●
83. 92675592 c.697G>C p.E233Q missense 0.00000828●●●●●●
84. 92677580 c.461G>A p.R154Q missense 0.00000828●●●●●●
85. 92677581 c.460C>T p.R154W missense 0.00000828●●●●●●
86. 92677583 c.458A>C p.K153T missense 0.00000828●●●●●●
87. 92676009 c.570C>G p.I190M missense 0.00000827●●●●●●
88. 92677575 c.466G>A p.A156T missense 0.00000827●●●●●●
89. 92676010 c.569delT p.Ile190ThrfsTer13 frameshift 0.00000827●●●●●●
90. 92678896 c.337G>T p.E113X nonsense 0.00000826●●●●●●
91. 92675583 c.706G>A p.E236K missense 0.00000826●●●●●●
92. 92677569 c.472C>T p.H158Y missense 0.00000826●●●●●●
93. 92675330 c.819G>A p.M273I missense 0.00000826●●●●●●
94. 92675586 c.703G>A p.A235T missense 0.00000826●●●●●●
95. 92675939 c.640G>A p.A214T missense 0.00000826●●●●●●
96. 92675995 c.584G>C p.R195P missense 0.00000826●●●●●●
97. 92677497 c.544C>T p.R182C missense 0.00000826●●●●●●
98. 92677563 c.478G>A p.A160T missense 0.00000826●●●●●●
99. 92677565 c.476G>T p.R159I missense 0.00000826●●●●●●
100. 92678626 c.449A>G p.D150G missense 0.00000826●●●●●●
101. 92680757 c.27+1G>T essential splice site 0.00000826●●●●●●
102. 92678616 c.453+6A>T splice site 0.00000826●●●●●●
103. 92675401 c.751-3T>C splice site 0.00000825●●●●●●
104. 92675385 c.764C>T p.P255L missense 0.00000825●●●●●●
105. 92675338 c.811C>A p.L271M missense 0.00000825●●●●●●
106. 92675353 c.796A>G p.K266E missense 0.00000825●●●●●●
107. 92675364 c.785T>G p.L262R missense 0.00000825●●●●●●
108. 92675570 c.719C>T p.A240V missense 0.00000825●●●●●●
109. 92675571 c.718G>C p.A240P missense 0.00000825●●●●●●
110. 92675573 c.716T>C p.I239T missense 0.00000825●●●●●●
111. 92677503 c.538G>A p.E180K missense 0.00000825●●●●●●
112. 92677512 c.529G>A p.A177T missense 0.00000825●●●●●●
113. 92677514 c.527G>A p.G176E missense 0.00000825●●●●●●
114. 92677533 c.508G>A p.E170K missense 0.00000825●●●●●●
115. 92680783 c.2T>A p.Met1? missense 0.00000825●●●●●●
116. 92680783 c.2T>G p.Met1? missense 0.00000825●●●●●●
117. 92680784 c.1A>G p.Met1? missense 0.00000825●●●●●●
118. 92672676 c.907T>C p.F303L missense 0.00000824●●●●●●
119. 92672732 c.851C>G p.A284G missense 0.00000824●●●●●●
120. 92679939 c.194_196delAAC p.Q65_R66delinsR inframe 0.00000824●●●●●●
121. 92680029 c.104C>T p.A35V missense 0.00000824●●●●●●
122. 92672634 c.949G>C p.A317P missense 0.00000824●●●●●●
123. 92672640 c.943C>T p.R315C missense 0.00000824●●●●●●
124. 92672649 c.934A>G p.K312E missense 0.00000824●●●●●●
125. 92672656 c.927C>A p.N309K missense 0.00000824●●●●●●
126. 92672687 c.896C>A p.T299N missense 0.00000824●●●●●●
127. 92672709 c.874G>C p.V292L missense 0.00000824●●●●●●
128. 92672712 c.871C>A p.L291M missense 0.00000824●●●●●●
129. 92675550 c.739G>A p.A247T missense 0.00000824●●●●●●
130. 92675559 c.730G>C p.D244H missense 0.00000824●●●●●●
131. 92679937 c.196C>T p.R66X nonsense 0.00000824●●●●●●
132. 92679939 c.194A>C p.Q65P missense 0.00000824●●●●●●
133. 92679952 c.181A>G p.K61E missense 0.00000824●●●●●●
134. 92679979 c.154C>T p.P52S missense 0.00000824●●●●●●
135. 92679999 c.134T>A p.L45Q missense 0.00000824●●●●●●
136. 92680020 c.113C>T p.T38I missense 0.00000824●●●●●●
137. 92680023 c.110T>C p.V37A missense 0.00000824●●●●●●
138. 92680026 c.107C>T p.A36V missense 0.00000824●●●●●●
139. 92680041 c.92G>A p.G31E missense 0.00000824●●●●●●
140. 92680048 c.85A>G p.R29G missense 0.00000824●●●●●●
141. 92680060 c.73C>T p.P25S missense 0.00000824●●●●●●
142. 92680074 c.59C>T p.A20V missense 0.00000824●●●●●●
143. 92680074 c.59C>A p.A20E missense 0.00000824●●●●●●
144. 92680080 c.53G>C p.G18A missense 0.00000824●●●●●●
145. 92680081 c.52G>A p.G18R missense 0.00000824●●●●●●
146. 92672654 c.929_931delCCT p.Ser310del inframe 0.00000824●●●●●●
147. 92672720 c.863delC p.Pro288ArgfsTer29 frameshift 0.00000824●●●●●●
148. 92675539 c.750_750+1delAG essential splice site 0.00000824●●●●●●
149. 92675538 c.750+1G>C essential splice site 0.00000824●●●●●●
150. 92672731 c.852T>C splice site 0.00000824●●●●●●
151. 92672741 c.850-8T>G splice site 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.