DDAH2 variants in ExAC

DDAH2 gene summary
DDAH2 variants in

The table below lists the DDAH2 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. 31696413 c.397+10G>C splice site 0.00746749●●●●●●
2. 31696928 c.11C>G p.P4R missense 0.00340593●●●●●●
3. 31696414 c.397+9G>T splice site 0.00093965●●●●●●
4. 31695391 c.670C>T p.R224C missense 0.00035268●●●●●●
5. 31696080 c.472-11G>A splice site 0.00025449●●●●●●
6. 31696235 c.464C>T p.T155M missense 0.00014811●●●●●●
7. 31696235 c.464C>A p.T155K missense 0.00013069●●●●●●
8. 31696704 c.235G>A p.A79T missense 0.00010363●●●●●●
9. 31696035 c.506C>T p.P169L missense 0.00007834●●●●●●
10. 31695054 c.818G>C p.S273T missense 0.00006909●●●●●●
11. 31696848 c.91G>A p.A31T missense 0.00005183●●●●●●
12. 31695446 c.615C>G p.H205Q missense 0.00003537●●●●●●
13. 31695415 c.646G>A p.A216T missense 0.00003458●●●●●●
14. 31695342 c.719G>A p.G240E missense 0.00003439●●●●●●
15. 31695327 c.734G>A p.S245N missense 0.00003439●●●●●●
16. 31695351 c.710G>A p.R237H missense 0.00003439●●●●●●
17. 31695444 c.617C>A p.P206Q missense 0.00002649●●●●●●
18. 31696045 c.496G>C p.V166L missense 0.00001743●●●●●●
19. 31696041 c.500C>T p.S167L missense 0.00001742●●●●●●
20. 31696023 c.518G>A p.R173H missense 0.00001740●●●●●●
21. 31696423 c.397G>A p.G133S missense 0.00001736●●●●●●
22. 31696659 c.280C>T p.P94S missense 0.00001731●●●●●●
23. 31696860 c.79G>A p.E27K missense 0.00001730●●●●●●
24. 31696863 c.76G>C p.G26R missense 0.00001730●●●●●●
25. 31696467 c.353_355delGAG p.Gly118del inframe 0.00001728●●●●●●
26. 31696476 c.344T>C p.V115A missense 0.00001727●●●●●●
27. 31696804 c.135C>G p.H45Q missense 0.00001726●●●●●●
28. 31695064 c.808G>A p.A270T missense 0.00001726●●●●●●
29. 31695357 c.704T>C p.L235P missense 0.00001719●●●●●●
30. 31696936 c.3G>A p.Met1? missense 0.00000903●●●●●●
31. 31696926 c.13G>C p.G5R missense 0.00000895●●●●●●
32. 31695456 c.605T>C p.L202P missense 0.00000893●●●●●●
33. 31695454 c.607A>G p.T203A missense 0.00000891●●●●●●
34. 31696223 c.471+5G>C splice site 0.00000877●●●●●●
35. 31696309 c.398-8G>A splice site 0.00000876●●●●●●
36. 31696074 c.472-5C>A splice site 0.00000876●●●●●●
37. 31696077 c.472-8C>T splice site 0.00000876●●●●●●
38. 31696229 c.470G>A p.R157Q missense 0.00000874●●●●●●
39. 31696899 c.40G>T p.A14S missense 0.00000873●●●●●●
40. 31696038 c.503G>A p.G168D missense 0.00000871●●●●●●
41. 31695993 c.548C>T p.T183I missense 0.00000870●●●●●●
42. 31695997 c.544C>G p.R182G missense 0.00000869●●●●●●
43. 31696889 c.50G>A p.R17Q missense 0.00000869●●●●●●
44. 31696009 c.532A>T p.M178L missense 0.00000869●●●●●●
45. 31696417 c.397+6G>C splice site 0.00000869●●●●●●
46. 31695018 c.854G>T p.S285I missense 0.00000869●●●●●●
47. 31696637 c.297+5G>A splice site 0.00000868●●●●●●
48. 31696423 c.397G>T p.G133C missense 0.00000868●●●●●●
49. 31696647 c.292C>A p.P98T missense 0.00000867●●●●●●
50. 31696435 c.385G>A p.V129I missense 0.00000866●●●●●●
51. 31695028 c.844C>T p.R282C missense 0.00000866●●●●●●
52. 31696653 c.286C>T p.R96C missense 0.00000866●●●●●●
53. 31695109 c.763G>A p.V255I missense 0.00000865●●●●●●
54. 31696670 c.269G>A p.R90Q missense 0.00000865●●●●●●
55. 31696463 c.357C>G p.D119E missense 0.00000864●●●●●●
56. 31696853 c.86C>G p.A29G missense 0.00000864●●●●●●
57. 31696468 c.352G>C p.G118R missense 0.00000864●●●●●●
58. 31696469 c.351A>G p.I117M missense 0.00000864●●●●●●
59. 31696530 c.298-8A>G splice site 0.00000864●●●●●●
60. 31695061 c.811G>T p.G271W missense 0.00000863●●●●●●
61. 31696754 c.185A>C p.E62A missense 0.00000863●●●●●●
62. 31696724 c.215G>A p.G72E missense 0.00000863●●●●●●
63. 31696772 c.167T>A p.L56Q missense 0.00000863●●●●●●
64. 31696497 c.323A>G p.Q108R missense 0.00000863●●●●●●
65. 31696722 c.217C>T p.P73S missense 0.00000863●●●●●●
66. 31695088 c.784T>C p.C262R missense 0.00000863●●●●●●
67. 31696483 c.337C>T p.R113X nonsense 0.00000863●●●●●●
68. 31696745 c.194C>G p.P65R missense 0.00000863●●●●●●
69. 31696803 c.136G>T p.G46W missense 0.00000863●●●●●●
70. 31695076 c.796G>C p.E266Q missense 0.00000862●●●●●●
71. 31695352 c.709C>T p.R237C missense 0.00000860●●●●●●
72. 31695322 c.739G>A p.E247K missense 0.00000860●●●●●●
73. 31695345 c.716G>A p.G239D missense 0.00000860●●●●●●
74. 31695326 c.735C>A p.S245R missense 0.00000860●●●●●●
75. 31695346 c.715G>A p.G239S missense 0.00000860●●●●●●
76. 31695336 c.725T>C p.L242P missense 0.00000860●●●●●●
77. 31695372 c.689T>C p.V230A missense 0.00000859●●●●●●

* 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.