NOS1AP missense variants in ExAC

NOS1AP gene summary
NOS1AP variants in

The table below lists the NOS1AP missense 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. 162270463 c.311G>A p.S104N missense 0.00329484●●●●●●
2. 162336953 c.1217C>T p.A406V missense 0.00134426●●●●●●
3. 162335257 c.1003G>A p.V335M missense 0.00033043●●●●●●
4. 162313712 c.541G>C p.D181H missense 0.00028007●●●●●●
5. 162326804 c.817T>G p.S273A missense 0.00010727●●●●●●
6. 162337054 c.1318C>T p.P440S missense 0.00010127●●●●●●
7. 162337045 c.1309G>A p.E437K missense 0.00009237●●●●●●
8. 162325015 c.634A>G p.T212A missense 0.00009063●●●●●●
9. 162337167 c.1431C>G p.D477E missense 0.00008772●●●●●●
10. 162337178 c.1442A>G p.Q481R missense 0.00008418●●●●●●
11. 162335356 c.1102G>A p.A368T missense 0.00007541●●●●●●
12. 162324979 c.598C>T p.R200C missense 0.00006598●●●●●●
13. 162313749 c.578A>T p.N193I missense 0.00005782●●●●●●
14. 162325139 c.758C>T p.S253F missense 0.00005767●●●●●●
15. 162336876 c.1140C>A p.F380L missense 0.00004154●●●●●●
16. 162124198 c.109G>A p.V37I missense 0.00003320●●●●●●
17. 162336955 c.1219G>A p.G407S missense 0.00003318●●●●●●
18. 162313758 c.587G>T p.G196V missense 0.00003312●●●●●●
19. 162313700 c.529C>A p.Q177K missense 0.00003295●●●●●●
20. 162337231 c.1495G>A p.G499S missense 0.00002637●●●●●●
21. 162337049 c.1313A>G p.D438G missense 0.00002524●●●●●●
22. 162326843 c.856C>T p.P286S missense 0.00002481●●●●●●
23. 162335234 c.980C>T p.A327V missense 0.00002478●●●●●●
24. 162326754 c.767C>T p.S256L missense 0.00002473●●●●●●
25. 162326780 c.793G>A p.A265T missense 0.00002473●●●●●●
26. 162324997 c.616G>A p.E206K missense 0.00002472●●●●●●
27. 162257151 c.195G>C p.K65N missense 0.00002472●●●●●●
28. 162313715 c.544G>A p.G182S missense 0.00002471●●●●●●
29. 162313706 c.535A>G p.N179D missense 0.00002471●●●●●●
30. 162257197 c.241G>A p.V81M missense 0.00002471●●●●●●
31. 162337203 c.1467T>A p.N489K missense 0.00001862●●●●●●
32. 162337202 c.1466A>C p.N489T missense 0.00001839●●●●●●
33. 162337102 c.1366A>G p.K456E missense 0.00001715●●●●●●
34. 162337084 c.1348G>C p.G450R missense 0.00001701●●●●●●
35. 162124264 c.175C>T p.R59W missense 0.00001665●●●●●●
36. 162124259 c.170G>A p.R57Q missense 0.00001664●●●●●●
37. 162313762 c.591C>A p.D197E missense 0.00001661●●●●●●
38. 162336893 c.1157C>G p.P386R missense 0.00001660●●●●●●
39. 162336992 c.1256T>C p.L419S missense 0.00001658●●●●●●
40. 162326844 c.857C>T p.P286L missense 0.00001654●●●●●●
41. 162335231 c.977C>T p.A326V missense 0.00001653●●●●●●
42. 162326751 c.764T>C p.V255A missense 0.00001649●●●●●●
43. 162325039 c.658G>A p.A220T missense 0.00001648●●●●●●
44. 162313698 c.527C>T p.T176M missense 0.00001647●●●●●●
45. 162257207 c.251T>C p.I84T missense 0.00001647●●●●●●
46. 162270432 c.280T>A p.L94M missense 0.00001647●●●●●●
47. 162325108 c.727G>T p.V243L missense 0.00001647●●●●●●
48. 162313709 c.538G>A p.A180T missense 0.00001647●●●●●●
49. 162337142 c.1406A>G p.N469S missense 0.00000968●●●●●●
50. 162337120 c.1384A>G p.I462V missense 0.00000883●●●●●●
51. 162326915 c.928G>T p.A310S missense 0.00000882●●●●●●
52. 162337087 c.1351G>A p.G451S missense 0.00000851●●●●●●
53. 162337087 c.1351G>T p.G451C missense 0.00000851●●●●●●
54. 162337072 c.1336G>A p.E446K missense 0.00000848●●●●●●
55. 162337061 c.1325C>G p.P442R missense 0.00000846●●●●●●
56. 162337055 c.1319C>T p.P440L missense 0.00000845●●●●●●
57. 162337060 c.1324C>A p.P442T missense 0.00000845●●●●●●
58. 162326882 c.895C>T p.L299F missense 0.00000839●●●●●●
59. 162335359 c.1105A>C p.M369L missense 0.00000838●●●●●●
60. 162337036 c.1300C>A p.L434I missense 0.00000836●●●●●●
61. 162124265 c.176G>A p.R59Q missense 0.00000833●●●●●●
62. 162336861 c.1125G>C p.L375F missense 0.00000832●●●●●●
63. 162040070 c.103A>G p.K35E missense 0.00000832●●●●●●
64. 162336880 c.1144T>G p.S382A missense 0.00000831●●●●●●
65. 162336902 c.1166G>T p.C389F missense 0.00000830●●●●●●
66. 162337015 c.1279A>C p.K427Q missense 0.00000830●●●●●●
67. 162336952 c.1216G>A p.A406T missense 0.00000830●●●●●●
68. 162040055 c.88A>G p.I30V missense 0.00000830●●●●●●
69. 162336952 c.1216G>T p.A406S missense 0.00000830●●●●●●
70. 162336892 c.1156C>G p.P386A missense 0.00000830●●●●●●
71. 162337000 c.1264C>T p.R422C missense 0.00000829●●●●●●
72. 162336976 c.1240C>T p.P414S missense 0.00000829●●●●●●
73. 162040051 c.84C>A p.H28Q missense 0.00000829●●●●●●
74. 162336958 c.1222T>G p.L408V missense 0.00000829●●●●●●
75. 162336989 c.1253C>A p.P418H missense 0.00000829●●●●●●
76. 162124243 c.154G>A p.V52M missense 0.00000829●●●●●●
77. 162326860 c.873C>G p.H291Q missense 0.00000829●●●●●●
78. 162039977 c.10A>C p.K4Q missense 0.00000829●●●●●●
79. 162124229 c.140G>A p.S47N missense 0.00000828●●●●●●
80. 162326837 c.850G>A p.E284K missense 0.00000827●●●●●●
81. 162313751 c.580A>C p.S194R missense 0.00000826●●●●●●
82. 162335210 c.956A>G p.D319G missense 0.00000826●●●●●●
83. 162335221 c.967G>A p.A323T missense 0.00000826●●●●●●
84. 162302863 c.401G>A p.R134Q missense 0.00000825●●●●●●
85. 162302859 c.397G>A p.A133T missense 0.00000825●●●●●●
86. 162302809 c.347T>C p.I116T missense 0.00000825●●●●●●
87. 162324980 c.599G>A p.R200H missense 0.00000825●●●●●●
88. 162302876 c.414C>G p.S138R missense 0.00000825●●●●●●
89. 162302830 c.368C>T p.S123F missense 0.00000825●●●●●●
90. 162324977 c.596G>C p.G199A missense 0.00000825●●●●●●
91. 162324983 c.602A>T p.Q201L missense 0.00000825●●●●●●
92. 162313744 c.573C>G p.N191K missense 0.00000825●●●●●●
93. 162302862 c.400C>G p.R134G missense 0.00000825●●●●●●
94. 162326804 c.817T>C p.S273P missense 0.00000825●●●●●●
95. 162324980 c.599G>T p.R200L missense 0.00000825●●●●●●
96. 162325048 c.667G>C p.V223L missense 0.00000824●●●●●●
97. 162325120 c.739G>A p.G247R missense 0.00000824●●●●●●
98. 162326781 c.794C>T p.A265V missense 0.00000824●●●●●●
99. 162325070 c.689T>A p.V230D missense 0.00000824●●●●●●
100. 162325016 c.635C>T p.T212I missense 0.00000824●●●●●●
101. 162325040 c.659C>T p.A220V missense 0.00000824●●●●●●
102. 162325115 c.734A>G p.K245R missense 0.00000824●●●●●●
103. 162325121 c.740G>A p.G247E missense 0.00000824●●●●●●
104. 162324998 c.617A>G p.E206G missense 0.00000824●●●●●●
105. 162313719 c.548A>G p.Q183R missense 0.00000824●●●●●●
106. 162326786 c.799C>T p.P267S missense 0.00000824●●●●●●
107. 162325085 c.704G>A p.R235Q missense 0.00000824●●●●●●
108. 162325032 c.651C>A p.D217E missense 0.00000824●●●●●●
109. 162313628 c.457C>A p.Q153K missense 0.00000824●●●●●●
110. 162257154 c.198C>G p.N66K missense 0.00000824●●●●●●
111. 162325123 c.742G>A p.G248S missense 0.00000824●●●●●●
112. 162326758 c.771C>A p.H257Q missense 0.00000824●●●●●●
113. 162325013 c.632C>T p.A211V missense 0.00000824●●●●●●
114. 162324985 c.604C>T p.L202F missense 0.00000824●●●●●●
115. 162313697 c.526A>T p.T176S missense 0.00000824●●●●●●
116. 162270461 c.309G>C p.E103D 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.