DDAH1 variants in ExAC

DDAH1 gene summary
DDAH1 variants in

The table below lists the DDAH1 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. 85816224 c.478-7C>T splice site 0.03084394●●●●●●
2. 85816215 c.480C>T p.D160D splice site 0.00779713●●●●●●
3. 85817269 c.404-7A>G splice site 0.00399088●●●●●●
4. 85930530 c.199G>C p.A67P missense 0.00281340●●●●●●
5. 85930469 c.260C>T p.T87M missense 0.00132683●●●●●●
6. 85816136 c.559G>A p.A187T missense 0.00032963●●●●●●
7. 85930482 c.247G>C p.V83L missense 0.00019007●●●●●●
8. 85930439 c.290G>C p.S97T missense 0.00014452●●●●●●
9. 85824541 c.304-11A>G splice site 0.00012442●●●●●●
10. 85790542 c.622C>T p.R208C missense 0.00010711●●●●●●
11. 85790541 c.623G>A p.R208H missense 0.00009887●●●●●●
12. 85816221 c.478-4G>A splice site 0.00009109●●●●●●
13. 85790511 c.653T>C p.I218T missense 0.00009061●●●●●●
14. 85930518 c.211C>T p.L71F missense 0.00007598●●●●●●
15. 85824449 c.385G>A p.G129R missense 0.00007438●●●●●●
16. 85930515 c.214C>T p.P72S missense 0.00006317●●●●●●
17. 85817260 c.406A>G p.R136G missense 0.00005782●●●●●●
18. 85790467 c.697G>A p.V233I missense 0.00005766●●●●●●
19. 85790574 c.598-8C>T splice site 0.00004950●●●●●●
20. 85930610 c.119T>C p.V40A missense 0.00004833●●●●●●
21. 85930442 c.287C>G p.P96R missense 0.00003794●●●●●●
22. 85930532 c.197C>T p.P66L missense 0.00003446●●●●●●
23. 85930623 c.106G>A p.E36K missense 0.00003435●●●●●●
24. 85817226 c.440A>C p.N147T missense 0.00003302●●●●●●
25. 85787179 c.814C>T p.L272F missense 0.00003295●●●●●●
26. 85790448 c.716C>T p.P239L missense 0.00003295●●●●●●
27. 85790428 c.736G>A p.A246T missense 0.00002472●●●●●●
28. 85790425 c.739A>G p.K247E missense 0.00002472●●●●●●
29. 85930605 c.124C>A p.R42S missense 0.00002247●●●●●●
30. 85930506 c.223G>A p.V75I missense 0.00002021●●●●●●
31. 85930493 c.236A>C p.D79A missense 0.00001983●●●●●●
32. 85930595 c.134G>C p.R45P missense 0.00001920●●●●●●
33. 85930593 c.136C>T p.Q46X nonsense 0.00001893●●●●●●
34. 85816222 c.478-5C>T splice site 0.00001657●●●●●●
35. 85824526 c.308A>G p.D103G missense 0.00001655●●●●●●
36. 85824514 c.320A>C p.E107A missense 0.00001653●●●●●●
37. 85817220 c.446G>A p.R149Q missense 0.00001651●●●●●●
38. 85817221 c.445C>T p.R149X nonsense 0.00001651●●●●●●
39. 85816121 c.574G>C p.E192Q missense 0.00001650●●●●●●
40. 85816184 c.511G>C p.G171R missense 0.00001648●●●●●●
41. 85790502 c.662A>C p.N221T missense 0.00001647●●●●●●
42. 85790494 c.670_675delTATCTA p.Tyr224_Leu225del inframe 0.00001647●●●●●●
43. 85790517 c.647A>T p.D216V missense 0.00001647●●●●●●
44. 85790469 c.695A>G p.H232R missense 0.00001647●●●●●●
45. 85930559 c.170A>C p.K57T missense 0.00001328●●●●●●
46. 85930442 c.287C>T p.P96L missense 0.00001265●●●●●●
47. 85930529 c.200C>G p.A67G missense 0.00001133●●●●●●
48. 85930523 c.206A>G p.E69G missense 0.00001101●●●●●●
49. 85824530 c.304G>A p.V102I missense 0.00000828●●●●●●
50. 85824522 c.312G>C p.M104I missense 0.00000827●●●●●●
51. 85824511 c.323C>G p.A108G missense 0.00000827●●●●●●
52. 85816106 c.589G>A p.A197T missense 0.00000827●●●●●●
53. 85824488 c.346A>G p.I116V missense 0.00000826●●●●●●
54. 85817271 c.404-9C>T splice site 0.00000826●●●●●●
55. 85824477 c.357G>C p.M119I missense 0.00000826●●●●●●
56. 85824487 c.347T>G p.I116R missense 0.00000826●●●●●●
57. 85817226 c.440A>G p.N147S missense 0.00000826●●●●●●
58. 85790570 c.598-4A>G splice site 0.00000825●●●●●●
59. 85816199 c.496G>C p.V166L missense 0.00000825●●●●●●
60. 85790454 c.710G>A p.R237Q missense 0.00000824●●●●●●
61. 85790443 c.721G>C p.E241Q missense 0.00000824●●●●●●
62. 85787192 c.801G>T p.K267N missense 0.00000824●●●●●●
63. 85787146 c.847G>A p.V283I missense 0.00000824●●●●●●
64. 85816193 c.502G>A p.V168M missense 0.00000824●●●●●●
65. 85816129 c.566G>T p.G189V missense 0.00000824●●●●●●
66. 85790521 c.643C>T p.P215S missense 0.00000824●●●●●●
67. 85787227 c.766A>G p.M256V missense 0.00000824●●●●●●
68. 85790550 c.614G>C p.S205T missense 0.00000824●●●●●●
69. 85787209 c.784A>G p.M262V missense 0.00000824●●●●●●
70. 85816173 c.522G>C p.L174F missense 0.00000824●●●●●●
71. 85790535 c.629A>C p.D210A missense 0.00000824●●●●●●
72. 85790502 c.662delA p.Asn221ThrfsTer5 frameshift 0.00000824●●●●●●
73. 85790446 c.718G>A p.E240K missense 0.00000824●●●●●●
74. 85790536 c.628G>A p.D210N missense 0.00000824●●●●●●
75. 85787209 c.784A>C p.M262L missense 0.00000824●●●●●●
76. 85790542 c.622C>G p.R208G missense 0.00000824●●●●●●
77. 85790517 c.647A>G p.D216G missense 0.00000824●●●●●●
78. 85787256 c.742-5T>A splice site 0.00000824●●●●●●
79. 85790430 c.734G>A p.S245N missense 0.00000824●●●●●●
80. 85787143 c.850G>A p.D284N missense 0.00000824●●●●●●
81. 85787181 c.812T>C p.L271P missense 0.00000824●●●●●●
82. 85790495 c.669A>G p.I223M missense 0.00000824●●●●●●
83. 85787252 c.742-1G>C essential splice site 0.00000824●●●●●●
84. 85787215 c.778G>A p.V260M missense 0.00000824●●●●●●
85. 85790546 c.618C>G p.D206E missense 0.00000824●●●●●●
86. 85790483 c.681C>G p.I227M 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.