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. 92677565 c.476G>C p.R159T missense 0.00002478●●●●●●
34. 92680754 c.27+4T>A splice site 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. 92672650 c.933C>A p.Y311X nonsense 0.00002471●●●●●●
39. 92672702 c.881A>G p.H294R missense 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. 92678710 c.365C>T p.P122L missense 0.00001655●●●●●●
44. 92675928 c.651G>T p.K217N missense 0.00001655●●●●●●
45. 92675328 c.821A>G p.Y274C missense 0.00001652●●●●●●
46. 92678675 c.400C>T p.P134S missense 0.00001652●●●●●●
47. 92680780 c.5T>C p.M2T missense 0.00001651●●●●●●
48. 92678622 c.453G>A splice site 0.00001651●●●●●●
49. 92678887 c.345+1G>T essential splice site 0.00001651●●●●●●
50. 92675996 c.583C>T p.R195C missense 0.00001651●●●●●●
51. 92675355 c.794A>G p.Y265C missense 0.00001650●●●●●●
52. 92675954 c.625G>C p.G209R missense 0.00001650●●●●●●
53. 92675537 c.750+2T>C essential splice site 0.00001649●●●●●●
54. 92675553 c.736A>G p.N246D missense 0.00001649●●●●●●
55. 92675561 c.728C>G p.A243G missense 0.00001649●●●●●●
56. 92675567 c.722G>A p.C241Y missense 0.00001649●●●●●●
57. 92680090 c.43A>C p.N15H missense 0.00001648●●●●●●
58. 92672678 c.905T>C p.I302T missense 0.00001647●●●●●●
59. 92672639 c.944G>T p.R315L missense 0.00001647●●●●●●
60. 92679978 c.155delC p.Pro52LeufsTer2 frameshift 0.00001647●●●●●●
61. 92680000 c.133C>G p.L45V missense 0.00001647●●●●●●
62. 92672675 c.908T>G p.F303C missense 0.00001647●●●●●●
63. 92672636 c.947T>C p.I316T missense 0.00001647●●●●●●
64. 92679953 c.180G>A p.W60X nonsense 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. 92675923 c.651+5T>C splice site 0.00000829●●●●●●
81. 92676032 c.553-6_553-1dupGTATAG nonsense 0.00000829●●●●●●
82. 92675922 c.651+6C>A splice site 0.00000829●●●●●●
83. 92677580 c.461G>A p.R154Q missense 0.00000828●●●●●●
84. 92677581 c.460C>T p.R154W missense 0.00000828●●●●●●
85. 92677583 c.458A>C p.K153T missense 0.00000828●●●●●●
86. 92675592 c.697G>C p.E233Q 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. 92678616 c.453+6A>T splice site 0.00000826●●●●●●
91. 92675330 c.819G>A p.M273I missense 0.00000826●●●●●●
92. 92677569 c.472C>T p.H158Y missense 0.00000826●●●●●●
93. 92677565 c.476G>T p.R159I missense 0.00000826●●●●●●
94. 92675995 c.584G>C p.R195P missense 0.00000826●●●●●●
95. 92677497 c.544C>T p.R182C missense 0.00000826●●●●●●
96. 92675586 c.703G>A p.A235T missense 0.00000826●●●●●●
97. 92680757 c.27+1G>T essential splice site 0.00000826●●●●●●
98. 92675583 c.706G>A p.E236K missense 0.00000826●●●●●●
99. 92678896 c.337G>T p.E113X nonsense 0.00000826●●●●●●
100. 92677563 c.478G>A p.A160T missense 0.00000826●●●●●●
101. 92675939 c.640G>A p.A214T missense 0.00000826●●●●●●
102. 92678626 c.449A>G p.D150G missense 0.00000826●●●●●●
103. 92675401 c.751-3T>C splice site 0.00000825●●●●●●
104. 92680784 c.1A>G p.Met1? missense 0.00000825●●●●●●
105. 92675573 c.716T>C p.I239T missense 0.00000825●●●●●●
106. 92677514 c.527G>A p.G176E missense 0.00000825●●●●●●
107. 92675385 c.764C>T p.P255L missense 0.00000825●●●●●●
108. 92675364 c.785T>G p.L262R missense 0.00000825●●●●●●
109. 92675338 c.811C>A p.L271M missense 0.00000825●●●●●●
110. 92677533 c.508G>A p.E170K missense 0.00000825●●●●●●
111. 92680783 c.2T>A p.Met1? missense 0.00000825●●●●●●
112. 92675570 c.719C>T p.A240V missense 0.00000825●●●●●●
113. 92677503 c.538G>A p.E180K missense 0.00000825●●●●●●
114. 92675353 c.796A>G p.K266E missense 0.00000825●●●●●●
115. 92680783 c.2T>G p.Met1? missense 0.00000825●●●●●●
116. 92675571 c.718G>C p.A240P missense 0.00000825●●●●●●
117. 92677512 c.529G>A p.A177T missense 0.00000825●●●●●●
118. 92680020 c.113C>T p.T38I missense 0.00000824●●●●●●
119. 92675559 c.730G>C p.D244H missense 0.00000824●●●●●●
120. 92672741 c.850-8T>G splice site 0.00000824●●●●●●
121. 92680074 c.59C>A p.A20E missense 0.00000824●●●●●●
122. 92680048 c.85A>G p.R29G missense 0.00000824●●●●●●
123. 92679979 c.154C>T p.P52S missense 0.00000824●●●●●●
124. 92679939 c.194A>C p.Q65P missense 0.00000824●●●●●●
125. 92680023 c.110T>C p.V37A missense 0.00000824●●●●●●
126. 92672687 c.896C>A p.T299N missense 0.00000824●●●●●●
127. 92672656 c.927C>A p.N309K missense 0.00000824●●●●●●
128. 92672634 c.949G>C p.A317P missense 0.00000824●●●●●●
129. 92680029 c.104C>T p.A35V missense 0.00000824●●●●●●
130. 92675539 c.750_750+1delAG essential splice site 0.00000824●●●●●●
131. 92680080 c.53G>C p.G18A missense 0.00000824●●●●●●
132. 92680060 c.73C>T p.P25S missense 0.00000824●●●●●●
133. 92679999 c.134T>A p.L45Q missense 0.00000824●●●●●●
134. 92679952 c.181A>G p.K61E missense 0.00000824●●●●●●
135. 92672640 c.943C>T p.R315C missense 0.00000824●●●●●●
136. 92672654 c.929_931delCCT p.Ser310del inframe 0.00000824●●●●●●
137. 92680026 c.107C>T p.A36V missense 0.00000824●●●●●●
138. 92672676 c.907T>C p.F303L missense 0.00000824●●●●●●
139. 92672709 c.874G>C p.V292L missense 0.00000824●●●●●●
140. 92675538 c.750+1G>C essential splice site 0.00000824●●●●●●
141. 92679939 c.194_196delAAC p.Q65_R66delinsR inframe 0.00000824●●●●●●
142. 92680081 c.52G>A p.G18R missense 0.00000824●●●●●●
143. 92675550 c.739G>A p.A247T missense 0.00000824●●●●●●
144. 92672649 c.934A>G p.K312E missense 0.00000824●●●●●●
145. 92672731 c.852T>C splice site 0.00000824●●●●●●
146. 92672720 c.863delC p.Pro288ArgfsTer29 frameshift 0.00000824●●●●●●
147. 92680074 c.59C>T p.A20V missense 0.00000824●●●●●●
148. 92680041 c.92G>A p.G31E missense 0.00000824●●●●●●
149. 92672732 c.851C>G p.A284G missense 0.00000824●●●●●●
150. 92679937 c.196C>T p.R66X nonsense 0.00000824●●●●●●
151. 92672712 c.871C>A p.L291M 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.