NOS1AP variants in ExAC

NOS1AP gene summary
NOS1AP variants in

The table below lists the NOS1AP 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. 162326888 c.901_903delCAG p.Gln301del inframe 0.00368985●●●●●●
2. 162270463 c.311G>A p.S104N missense 0.00329484●●●●●●
3. 162336953 c.1217C>T p.A406V missense 0.00134426●●●●●●
4. 162326802 c.815_817delCTT p.P272_S273delinsP inframe 0.00036288●●●●●●
5. 162335257 c.1003G>A p.V335M missense 0.00033043●●●●●●
6. 162313712 c.541G>C p.D181H missense 0.00028007●●●●●●
7. 162326804 c.817T>G p.S273A missense 0.00010727●●●●●●
8. 162337054 c.1318C>T p.P440S missense 0.00010127●●●●●●
9. 162337045 c.1309G>A p.E437K missense 0.00009237●●●●●●
10. 162325015 c.634A>G p.T212A missense 0.00009063●●●●●●
11. 162337167 c.1431C>G p.D477E missense 0.00008772●●●●●●
12. 162337178 c.1442A>G p.Q481R missense 0.00008418●●●●●●
13. 162324972 c.596-5T>G splice site 0.00008250●●●●●●
14. 162335356 c.1102G>A p.A368T missense 0.00007541●●●●●●
15. 162324979 c.598C>T p.R200C missense 0.00006598●●●●●●
16. 162313749 c.578A>T p.N193I missense 0.00005782●●●●●●
17. 162325139 c.758C>T p.S253F missense 0.00005767●●●●●●
18. 162124269 c.177+3G>A splice site 0.00004169●●●●●●
19. 162336876 c.1140C>A p.F380L missense 0.00004154●●●●●●
20. 162313765 c.594A>G splice site 0.00003326●●●●●●
21. 162124198 c.109G>A p.V37I missense 0.00003320●●●●●●
22. 162336955 c.1219G>A p.G407S missense 0.00003318●●●●●●
23. 162313758 c.587G>T p.G196V missense 0.00003312●●●●●●
24. 162313700 c.529C>A p.Q177K missense 0.00003295●●●●●●
25. 162337231 c.1495G>A p.G499S missense 0.00002637●●●●●●
26. 162337049 c.1313A>G p.D438G missense 0.00002524●●●●●●
27. 162326843 c.856C>T p.P286S missense 0.00002481●●●●●●
28. 162335234 c.980C>T p.A327V missense 0.00002478●●●●●●
29. 162326780 c.793G>A p.A265T missense 0.00002473●●●●●●
30. 162326754 c.767C>T p.S256L missense 0.00002473●●●●●●
31. 162257151 c.195G>C p.K65N missense 0.00002472●●●●●●
32. 162324997 c.616G>A p.E206K missense 0.00002472●●●●●●
33. 162313715 c.544G>A p.G182S missense 0.00002471●●●●●●
34. 162313706 c.535A>G p.N179D missense 0.00002471●●●●●●
35. 162257197 c.241G>A p.V81M missense 0.00002471●●●●●●
36. 162337203 c.1467T>A p.N489K missense 0.00001862●●●●●●
37. 162337202 c.1466A>C p.N489T missense 0.00001839●●●●●●
38. 162337102 c.1366A>G p.K456E missense 0.00001715●●●●●●
39. 162337084 c.1348G>C p.G450R missense 0.00001701●●●●●●
40. 162040079 c.105+7G>T splice site 0.00001670●●●●●●
41. 162124264 c.175C>T p.R59W missense 0.00001665●●●●●●
42. 162124259 c.170G>A p.R57Q missense 0.00001664●●●●●●
43. 162313762 c.591C>A p.D197E missense 0.00001661●●●●●●
44. 162336893 c.1157C>G p.P386R missense 0.00001660●●●●●●
45. 162336992 c.1256T>C p.L419S missense 0.00001658●●●●●●
46. 162326844 c.857C>T p.P286L missense 0.00001654●●●●●●
47. 162335231 c.977C>T p.A326V missense 0.00001653●●●●●●
48. 162326751 c.764T>C p.V255A missense 0.00001649●●●●●●
49. 162326743 c.763-7C>T splice site 0.00001649●●●●●●
50. 162326742 c.763-8T>C splice site 0.00001649●●●●●●
51. 162325039 c.658G>A p.A220T missense 0.00001648●●●●●●
52. 162257207 c.251T>C p.I84T missense 0.00001647●●●●●●
53. 162313698 c.527C>T p.T176M missense 0.00001647●●●●●●
54. 162270432 c.280T>A p.L94M missense 0.00001647●●●●●●
55. 162257211 c.255_257delGAA p.Lys88del inframe 0.00001647●●●●●●
56. 162325108 c.727G>T p.V243L missense 0.00001647●●●●●●
57. 162313709 c.538G>A p.A180T missense 0.00001647●●●●●●
58. 162337142 c.1406A>G p.N469S missense 0.00000968●●●●●●
59. 162337120 c.1384A>G p.I462V missense 0.00000883●●●●●●
60. 162326915 c.928G>T p.A310S missense 0.00000882●●●●●●
61. 162326888 c.901_903dupCAG p.Gln301dup inframe 0.00000854●●●●●●
62. 162337087 c.1351G>A p.G451S missense 0.00000851●●●●●●
63. 162337087 c.1351G>T p.G451C missense 0.00000851●●●●●●
64. 162337072 c.1336G>A p.E446K missense 0.00000848●●●●●●
65. 162337061 c.1325C>G p.P442R missense 0.00000846●●●●●●
66. 162337055 c.1319C>T p.P440L missense 0.00000845●●●●●●
67. 162337060 c.1324C>A p.P442T missense 0.00000845●●●●●●
68. 162326882 c.895C>T p.L299F missense 0.00000839●●●●●●
69. 162313774 c.595+8delC splice site 0.00000839●●●●●●
70. 162335359 c.1105A>C p.M369L missense 0.00000838●●●●●●
71. 162313772 c.595+6C>T splice site 0.00000838●●●●●●
72. 162337036 c.1300C>A p.L434I missense 0.00000836●●●●●●
73. 162040078 c.105+6G>A splice site 0.00000835●●●●●●
74. 162336837 c.1106-5T>C splice site 0.00000834●●●●●●
75. 162336836 c.1106-6C>A splice site 0.00000834●●●●●●
76. 162336834 c.1106-8C>T splice site 0.00000834●●●●●●
77. 162124266 c.177G>A splice site 0.00000833●●●●●●
78. 162124265 c.176G>A p.R59Q missense 0.00000833●●●●●●
79. 162040070 c.103A>G p.K35E missense 0.00000832●●●●●●
80. 162302916 c.453+1G>A essential splice site 0.00000832●●●●●●
81. 162336861 c.1125G>C p.L375F missense 0.00000832●●●●●●
82. 162336880 c.1144T>G p.S382A missense 0.00000831●●●●●●
83. 162336902 c.1166G>T p.C389F missense 0.00000830●●●●●●
84. 162040055 c.88A>G p.I30V missense 0.00000830●●●●●●
85. 162337015 c.1279A>C p.K427Q missense 0.00000830●●●●●●
86. 162336952 c.1216G>A p.A406T missense 0.00000830●●●●●●
87. 162336952 c.1216G>T p.A406S missense 0.00000830●●●●●●
88. 162336892 c.1156C>G p.P386A missense 0.00000830●●●●●●
89. 162124197 c.108C>T p.Y36Y splice site 0.00000830●●●●●●
90. 162040051 c.84C>A p.H28Q missense 0.00000829●●●●●●
91. 162337000 c.1264C>T p.R422C missense 0.00000829●●●●●●
92. 162336976 c.1240C>T p.P414S missense 0.00000829●●●●●●
93. 162124243 c.154G>A p.V52M missense 0.00000829●●●●●●
94. 162336989 c.1253C>A p.P418H missense 0.00000829●●●●●●
95. 162326860 c.873C>G p.H291Q missense 0.00000829●●●●●●
96. 162039977 c.10A>C p.K4Q missense 0.00000829●●●●●●
97. 162336958 c.1222T>G p.L408V missense 0.00000829●●●●●●
98. 162335189 c.940-5T>G splice site 0.00000828●●●●●●
99. 162124229 c.140G>A p.S47N missense 0.00000828●●●●●●
100. 162326837 c.850G>A p.E284K missense 0.00000827●●●●●●
101. 162313751 c.580A>C p.S194R missense 0.00000826●●●●●●
102. 162302801 c.345-6C>T splice site 0.00000826●●●●●●
103. 162335210 c.956A>G p.D319G missense 0.00000826●●●●●●
104. 162335221 c.967G>A p.A323T missense 0.00000826●●●●●●
105. 162324976 c.596-1G>T essential splice site 0.00000825●●●●●●
106. 162302863 c.401G>A p.R134Q missense 0.00000825●●●●●●
107. 162324970 c.596-7C>T splice site 0.00000825●●●●●●
108. 162302809 c.347T>C p.I116T missense 0.00000825●●●●●●
109. 162324980 c.599G>A p.R200H missense 0.00000825●●●●●●
110. 162302876 c.414C>G p.S138R missense 0.00000825●●●●●●
111. 162324974 c.596-3C>T splice site 0.00000825●●●●●●
112. 162302830 c.368C>T p.S123F missense 0.00000825●●●●●●
113. 162302859 c.397G>A p.A133T missense 0.00000825●●●●●●
114. 162324983 c.602A>T p.Q201L missense 0.00000825●●●●●●
115. 162324977 c.596G>C p.G199A missense 0.00000825●●●●●●
116. 162313744 c.573C>G p.N191K missense 0.00000825●●●●●●
117. 162302862 c.400C>G p.R134G missense 0.00000825●●●●●●
118. 162326804 c.817T>C p.S273P missense 0.00000825●●●●●●
119. 162324980 c.599G>T p.R200L missense 0.00000825●●●●●●
120. 162270461 c.309G>C p.E103D missense 0.00000824●●●●●●
121. 162325048 c.667G>C p.V223L missense 0.00000824●●●●●●
122. 162257131 c.178-3C>A splice site 0.00000824●●●●●●
123. 162326744 c.763-6C>T splice site 0.00000824●●●●●●
124. 162257127 c.178-7C>T splice site 0.00000824●●●●●●
125. 162325120 c.739G>A p.G247R missense 0.00000824●●●●●●
126. 162257227 c.270+1G>A essential splice site 0.00000824●●●●●●
127. 162257221 c.265A>T p.K89X nonsense 0.00000824●●●●●●
128. 162326781 c.794C>T p.A265V missense 0.00000824●●●●●●
129. 162325070 c.689T>A p.V230D missense 0.00000824●●●●●●
130. 162325016 c.635C>T p.T212I missense 0.00000824●●●●●●
131. 162325040 c.659C>T p.A220V missense 0.00000824●●●●●●
132. 162313618 c.454-7T>G splice site 0.00000824●●●●●●
133. 162257154 c.198C>G p.N66K missense 0.00000824●●●●●●
134. 162270422 c.271-1G>C essential splice site 0.00000824●●●●●●
135. 162325121 c.740G>A p.G247E missense 0.00000824●●●●●●
136. 162324998 c.617A>G p.E206G missense 0.00000824●●●●●●
137. 162313719 c.548A>G p.Q183R missense 0.00000824●●●●●●
138. 162326786 c.799C>T p.P267S missense 0.00000824●●●●●●
139. 162325032 c.651C>A p.D217E missense 0.00000824●●●●●●
140. 162325085 c.704G>A p.R235Q missense 0.00000824●●●●●●
141. 162313628 c.457C>A p.Q153K missense 0.00000824●●●●●●
142. 162326758 c.771C>A p.H257Q missense 0.00000824●●●●●●
143. 162325123 c.742G>A p.G248S missense 0.00000824●●●●●●
144. 162325013 c.632C>T p.A211V missense 0.00000824●●●●●●
145. 162325115 c.734A>G p.K245R missense 0.00000824●●●●●●
146. 162324985 c.604C>T p.L202F missense 0.00000824●●●●●●
147. 162313697 c.526A>T p.T176S 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.