SRI variants in ExAC

SRI gene summary
SRI variants in

The table below lists the SRI 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. 87846511 c.136-5A>G splice site 0.01787775●●●●●●
2. 87839361 c.334T>C p.F112L missense 0.00059305●●●●●●
3. 87837866 c.526C>T p.R176W missense 0.00048245●●●●●●
4. 87838735 c.430A>G p.I144V missense 0.00027188●●●●●●
5. 87848248 c.61G>C p.A21P missense 0.00007453●●●●●●
6. 87840205 c.241A>G p.M81V missense 0.00006695●●●●●●
7. 87839394 c.301G>A p.V101I missense 0.00006590●●●●●●
8. 87846436 c.205+1G>A essential splice site 0.00004944●●●●●●
9. 87848184 c.125T>C p.V42A missense 0.00003303●●●●●●
10. 87838774 c.398-7_398-5delCTT splice site 0.00003301●●●●●●
11. 87846437 c.205C>T p.P69S missense 0.00003296●●●●●●
12. 87846436 c.205+1G>C essential splice site 0.00003296●●●●●●
13. 87839313 c.382G>A p.A128T missense 0.00003295●●●●●●
14. 87840219 c.227G>A p.R76Q missense 0.00002506●●●●●●
15. 87837872 c.520C>T p.R174X nonsense 0.00002498●●●●●●
16. 87838646 c.511+8C>G splice site 0.00002476●●●●●●
17. 87838675 c.490G>A p.V164I missense 0.00002472●●●●●●
18. 87840189 c.249+8T>G splice site 0.00001688●●●●●●
19. 87840220 c.226C>T p.R76W missense 0.00001671●●●●●●
20. 87837871 c.521G>A p.R174Q missense 0.00001666●●●●●●
21. 87837842 c.550G>T p.V184L missense 0.00001664●●●●●●
22. 87837862 c.530A>G p.D177G missense 0.00001662●●●●●●
23. 87848241 c.68G>A p.G23E missense 0.00001654●●●●●●
24. 87848171 c.135+3T>C splice site 0.00001653●●●●●●
25. 87839438 c.257T>C p.M86T missense 0.00001648●●●●●●
26. 87839440 c.255T>G p.D85E missense 0.00001648●●●●●●
27. 87838696 c.469G>T p.D157Y missense 0.00001648●●●●●●
28. 87846499 c.143A>G p.Q48R missense 0.00001648●●●●●●
29. 87846454 c.188T>C p.I63T missense 0.00001648●●●●●●
30. 87837819 c.570+3A>G splice site 0.00000845●●●●●●
31. 87840198 c.248A>G p.D83G missense 0.00000839●●●●●●
32. 87837827 c.565G>C p.D189H missense 0.00000837●●●●●●
33. 87837883 c.512-3C>T splice site 0.00000837●●●●●●
34. 87837829 c.563A>G p.Y188C missense 0.00000836●●●●●●
35. 87840232 c.214C>A p.L72M missense 0.00000835●●●●●●
36. 87840217 c.229C>T p.L77F missense 0.00000835●●●●●●
37. 87837845 c.547G>A p.V183I missense 0.00000832●●●●●●
38. 87837868 c.524G>A p.R175K missense 0.00000832●●●●●●
39. 87848260 c.52-3C>T splice site 0.00000830●●●●●●
40. 87848259 c.52-2A>T essential splice site 0.00000830●●●●●●
41. 87848255 c.54T>C splice site 0.00000829●●●●●●
42. 87848256 c.53A>C p.Y18S missense 0.00000829●●●●●●
43. 87848244 c.65C>T p.P22L missense 0.00000827●●●●●●
44. 87848174 c.135G>A splice site 0.00000826●●●●●●
45. 87835813 c.577C>T p.Q193X nonsense 0.00000826●●●●●●
46. 87835821 c.571-2A>G essential splice site 0.00000826●●●●●●
47. 87848227 c.82C>A p.P28T missense 0.00000826●●●●●●
48. 87848208 c.101C>G p.P34R missense 0.00000826●●●●●●
49. 87838656 c.509C>T p.T170I missense 0.00000825●●●●●●
50. 87835806 c.584T>C p.V195A missense 0.00000825●●●●●●
51. 87835810 c.580T>C p.C194R missense 0.00000825●●●●●●
52. 87835811 c.579A>C p.Q193H missense 0.00000825●●●●●●
53. 87838770 c.398-3T>C splice site 0.00000825●●●●●●
54. 87838647 c.511+7T>G splice site 0.00000825●●●●●●
55. 87838760 c.405G>T p.R135S missense 0.00000825●●●●●●
56. 87846493 c.149A>T p.D50V missense 0.00000824●●●●●●
57. 87846498 c.144G>C p.Q48H missense 0.00000824●●●●●●
58. 87846445 c.197G>A p.G66E missense 0.00000824●●●●●●
59. 87839297 c.397+1G>T essential splice site 0.00000824●●●●●●
60. 87839373 c.322C>G p.H108D missense 0.00000824●●●●●●
61. 87846508 c.136-2A>C essential splice site 0.00000824●●●●●●
62. 87838671 c.494A>G p.K165R missense 0.00000824●●●●●●
63. 87839432 c.263G>A p.G88D missense 0.00000824●●●●●●
64. 87838693 c.472G>C p.D158H missense 0.00000824●●●●●●
65. 87838693 c.472G>A p.D158N missense 0.00000824●●●●●●
66. 87838686 c.479T>A p.I160N missense 0.00000824●●●●●●
67. 87839367 c.328A>T p.I110F missense 0.00000824●●●●●●
68. 87838692 c.473A>T p.D158V missense 0.00000824●●●●●●
69. 87838696 c.469G>A p.D157N missense 0.00000824●●●●●●
70. 87838697 c.468C>A p.F156L missense 0.00000824●●●●●●
71. 87838713 c.452A>G p.N151S missense 0.00000824●●●●●●
72. 87838718 c.447C>A p.S149R missense 0.00000824●●●●●●
73. 87838719 c.446G>A p.S149N missense 0.00000824●●●●●●
74. 87838744 c.421G>A p.V141M missense 0.00000824●●●●●●
75. 87838747 c.418G>C p.A140P missense 0.00000824●●●●●●
76. 87839324 c.371A>G p.E124G missense 0.00000824●●●●●●
77. 87839358 c.337G>C p.D113H missense 0.00000824●●●●●●
78. 87839367 c.328A>G p.I110V missense 0.00000824●●●●●●
79. 87846475 c.167G>A p.R56K missense 0.00000824●●●●●●
80. 87839368 c.327T>G p.F109L missense 0.00000824●●●●●●
81. 87839374 c.321A>C p.Q107H missense 0.00000824●●●●●●
82. 87839387 c.308A>G p.N103S missense 0.00000824●●●●●●
83. 87839427 c.268A>G p.M90V missense 0.00000824●●●●●●
84. 87838690 c.475T>C p.Y159H missense 0.00000824●●●●●●
85. 87838690 c.475T>G p.Y159D missense 0.00000824●●●●●●
86. 87839441 c.254A>G p.D85G missense 0.00000824●●●●●●
87. 87838677 c.488G>A p.C163Y missense 0.00000824●●●●●●
88. 87838668 c.497T>C p.L166P missense 0.00000824●●●●●●
89. 87838693 c.472G>T p.D158Y 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.