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