CITED2 variants in ExAC

CITED2 gene summary
CITED2 variants in

The table below lists the CITED2 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. 139694603 c.479A>T p.H160L missense 0.00168901●●●●●●
2. 139694523 c.559_586delGCGGGCAGCAGCAACAGCGGCGGCGGCAinsGCGGGCAGCAGCAACAGCGGCA p.Gly194_Gly195del inframe 0.00136080●●●●●●
3. 139694965 c.117_119delCCA p.H39_Q40delinsQ inframe 0.00135393●●●●●●
4. 139694508 c.574A>G p.S192G missense 0.00095081●●●●●●
5. 139694508 c.574_579delAGCGGC inframe 0.00045391●●●●●●
6. 139694489 c.593_598delGCGGCA inframe 0.00040301●●●●●●
7. 139694478 c.604C>A p.P202T missense 0.00020917●●●●●●
8. 139694435 c.647A>G p.N216S missense 0.00016009●●●●●●
9. 139694781 c.301C>T p.P101S missense 0.00015901●●●●●●
10. 139694489 c.593_598dupGCGGCA p.Ser198_Gly199dup inframe 0.00012184●●●●●●
11. 139694837 c.245A>G p.H82R missense 0.00011084●●●●●●
12. 0 c.-8-7C>T splice site 0.00010884●●●●●●
13. 139694688 c.394A>G p.N132D missense 0.00006611●●●●●●
14. 139694385 c.697A>G p.I233V missense 0.00005816●●●●●●
15. 139694582 c.500C>A p.P167H missense 0.00005536●●●●●●
16. 139694285 c.797G>A p.S266N missense 0.00004132●●●●●●
17. 139694448 c.634A>G p.M212V missense 0.00003395●●●●●●
18. 139694901 c.181G>A p.G61S missense 0.00003347●●●●●●
19. 139694916 c.166A>G p.I56V missense 0.00003340●●●●●●
20. 139694699 c.383C>T p.P128L missense 0.00003306●●●●●●
21. 139695067 c.15G>C p.M5I missense 0.00002722●●●●●●
22. 139694603 c.479A>C p.H160P missense 0.00002653●●●●●●
23. 139694610 c.472C>A p.P158T missense 0.00002624●●●●●●
24. 139694623 c.459C>A p.F153L missense 0.00002578●●●●●●
25. 139694454 c.628G>A p.A210T missense 0.00002561●●●●●●
26. 139694639 c.443G>C p.G148A missense 0.00002534●●●●●●
27. 139694994 c.88A>C p.M30L missense 0.00002518●●●●●●
28. 139694903 c.179C>T p.A60V missense 0.00002510●●●●●●
29. 139694954 c.128_130delAGC p.Gln43del inframe 0.00002505●●●●●●
30. 139694924 c.158G>A p.G53D missense 0.00002505●●●●●●
31. 139694700 c.382C>T p.P128S missense 0.00002480●●●●●●
32. 0 c.-8-8_-8-3delACTTCCinsACTTCT splice site 0.00002114●●●●●●
33. 139695087 c.-6C>T splice site 0.00002041●●●●●●
34. 139694550 c.532G>A p.G178S missense 0.00001989●●●●●●
35. 139694523 c.559_585delGCGGGCAGCAGCAACAGCGGCGGCGGC p.Ala187_Gly195del inframe 0.00001987●●●●●●
36. 139695081 c.1A>G p.Met1? missense 0.00001954●●●●●●
37. 139694567 c.515G>A p.G172D missense 0.00001911●●●●●●
38. 139694580 c.502G>A p.G168S missense 0.00001861●●●●●●
39. 139695073 c.9C>G p.D3E missense 0.00001853●●●●●●
40. 139694474 c.608C>T p.A203V missense 0.00001766●●●●●●
41. 139694471 c.611C>G p.S204C missense 0.00001751●●●●●●
42. 139694465 c.617C>T p.A206V missense 0.00001737●●●●●●
43. 139694453 c.629C>G p.A210G missense 0.00001706●●●●●●
44. 139694636 c.446C>T p.T149I missense 0.00001694●●●●●●
45. 139694986 c.96G>C p.Q32H missense 0.00001677●●●●●●
46. 139694889 c.193G>A p.A65T missense 0.00001677●●●●●●
47. 139694965 c.117C>G p.H39Q missense 0.00001676●●●●●●
48. 139694785 c.297G>A p.M99I missense 0.00001675●●●●●●
49. 139694976 c.106C>T p.P36S missense 0.00001674●●●●●●
50. 139694895 c.187A>G p.M63V missense 0.00001674●●●●●●
51. 139694781 c.301C>A p.P101T missense 0.00001674●●●●●●
52. 139694775 c.307G>A p.V103M missense 0.00001673●●●●●●
53. 139694954 c.128_130dupAGC p.Gln43dup inframe 0.00001670●●●●●●
54. 139694946 c.136C>G p.H46D missense 0.00001669●●●●●●
55. 139694760 c.322G>A p.G108S missense 0.00001668●●●●●●
56. 139694664 c.418C>T p.P140S missense 0.00001657●●●●●●
57. 139694691 c.391C>A p.H131N missense 0.00001653●●●●●●
58. 139694690 c.392A>G p.H131R missense 0.00001653●●●●●●
59. 139694313 c.769A>G p.T257A missense 0.00001651●●●●●●
60. 139694525 c.557G>A p.G186D missense 0.00001061●●●●●●
61. 0 c.-8-8_-8-3delACTTCCinsC splice site 0.00001057●●●●●●
62. 139694529 c.553G>A p.G185S missense 0.00001049●●●●●●
63. 139694540 c.542G>C p.S181T missense 0.00001006●●●●●●
64. 139694546 c.536C>T p.S179F missense 0.00001001●●●●●●
65. 139694547 c.535T>G p.S179A missense 0.00000997●●●●●●
66. 139694550 c.532G>T p.G178C missense 0.00000995●●●●●●
67. 139694523 c.559_586delGCGGGCAGCAGCAACAGCGGCGGCGGCAinsGCGGGCAGCAGCAACAGCGGCGGCGGCGGCGGCA p.Gly194_Gly195dup inframe 0.00000993●●●●●●
68. 139694496 c.586A>G p.S196G missense 0.00000993●●●●●●
69. 139694487 c.595G>A p.G199S missense 0.00000992●●●●●●
70. 139694508 c.574_594delAGCGGCGGCGGCAGCGGCAGC p.Ser192_Ser198del inframe 0.00000992●●●●●●
71. 139694553 c.529G>C p.G177R missense 0.00000984●●●●●●
72. 139694498 c.584G>C p.G195A missense 0.00000981●●●●●●
73. 139694561 c.521_523dupGCA p.Ser174dup inframe 0.00000967●●●●●●
74. 139695079 c.3G>A p.M1I missense 0.00000966●●●●●●
75. 139694509 c.573_574insAGCGGC p.Ser192_Gly193dup inframe 0.00000946●●●●●●
76. 139694502 c.580G>A p.G194S missense 0.00000946●●●●●●
77. 139694582 c.500C>T p.P167L missense 0.00000923●●●●●●
78. 139695071 c.11A>G p.H4R missense 0.00000921●●●●●●
79. 139694585 c.497C>A p.T166N missense 0.00000917●●●●●●
80. 139694585 c.497C>T p.T166I missense 0.00000917●●●●●●
81. 139694591 c.491G>C p.S164T missense 0.00000908●●●●●●
82. 139694592 c.490A>G p.S164G missense 0.00000905●●●●●●
83. 139694594 c.488G>A p.G163D missense 0.00000903●●●●●●
84. 139694612 c.470A>T p.N157I missense 0.00000873●●●●●●
85. 139694466 c.616G>A p.A206T missense 0.00000868●●●●●●
86. 139694616 c.466T>C p.C156R missense 0.00000867●●●●●●
87. 139694619 c.463G>A p.D155N missense 0.00000865●●●●●●
88. 139694462 c.620A>G p.H207R missense 0.00000862●●●●●●
89. 139694624 c.458T>C p.F153S missense 0.00000858●●●●●●
90. 139694827 c.255C>G p.S85R missense 0.00000854●●●●●●
91. 139694820 c.262G>A p.A88T missense 0.00000854●●●●●●
92. 139694456 c.626C>T p.P209L missense 0.00000854●●●●●●
93. 139695042 c.40C>G p.P14A missense 0.00000853●●●●●●
94. 139694630 c.452A>G p.Q151R missense 0.00000852●●●●●●
95. 139694834 c.248C>G p.P83R missense 0.00000852●●●●●●
96. 139694835 c.247C>T p.P83S missense 0.00000852●●●●●●
97. 139695036 c.46G>A p.G16S missense 0.00000849●●●●●●
98. 139694859 c.223C>T p.P75S missense 0.00000848●●●●●●
99. 139694807 c.275G>A p.R92K missense 0.00000847●●●●●●
100. 139694877 c.205A>C p.I69L missense 0.00000842●●●●●●
101. 139695012 c.70C>T p.P24S missense 0.00000842●●●●●●
102. 139695009 c.73G>C p.A25P missense 0.00000841●●●●●●
103. 139694880 c.202G>A p.G68S missense 0.00000841●●●●●●
104. 139694427 c.655G>C p.D219H missense 0.00000840●●●●●●
105. 139694795 c.287C>G p.S96C missense 0.00000840●●●●●●
106. 139694790 c.292T>C p.F98L missense 0.00000839●●●●●●
107. 139694994 c.88A>T p.M30L missense 0.00000839●●●●●●
108. 139694652 c.430_435delCACCAG p.His144_Gln145del inframe 0.00000838●●●●●●
109. 139694984 c.98T>C p.F33S missense 0.00000838●●●●●●
110. 139694976 c.106C>G p.P36A missense 0.00000837●●●●●●
111. 139694421 c.661G>A p.D221N missense 0.00000837●●●●●●
112. 139694962 c.120G>C p.Q40H missense 0.00000836●●●●●●
113. 139694906 c.176G>A p.G59D missense 0.00000836●●●●●●
114. 139694910 c.172T>C p.Y58H missense 0.00000836●●●●●●
115. 139694417 c.665T>G p.F222C missense 0.00000836●●●●●●
116. 139694971 c.111T>A p.H37Q missense 0.00000836●●●●●●
117. 139694926 c.156G>A p.M52I missense 0.00000835●●●●●●
118. 139694934 c.148G>C p.A50P missense 0.00000835●●●●●●
119. 139694928 c.154A>G p.M52V missense 0.00000835●●●●●●
120. 139694930 c.152T>A p.L51Q missense 0.00000835●●●●●●
121. 139694931 c.151C>G p.L51V missense 0.00000835●●●●●●
122. 139694952 c.130C>A p.P44T missense 0.00000835●●●●●●
123. 139694936 c.146A>G p.N49S missense 0.00000834●●●●●●
124. 139694654 c.428G>C p.G143A missense 0.00000833●●●●●●
125. 139694660 c.422C>T p.A141V missense 0.00000830●●●●●●
126. 139694663 c.419C>G p.P140R missense 0.00000829●●●●●●
127. 139694663 c.419C>T p.P140L missense 0.00000829●●●●●●
128. 139694346 c.736C>T p.L246F missense 0.00000827●●●●●●
129. 139694677 c.405G>A p.M135I missense 0.00000827●●●●●●
130. 139694694 c.388C>T p.P130S missense 0.00000827●●●●●●
131. 139694707 c.375C>G p.N125K missense 0.00000827●●●●●●
132. 139694677 c.405G>T p.M135I missense 0.00000827●●●●●●
133. 139694276 c.806G>A p.S269N missense 0.00000827●●●●●●
134. 139694305 c.777C>A p.F259L missense 0.00000825●●●●●●
135. 139694315 c.767T>C p.M256T missense 0.00000825●●●●●●

* 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.