SELP truncating variants in ExAC

SELP gene summary
SELP variants in

The table below lists the SELP truncating 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. 169581608 c.808C>T p.R270X nonsense 0.00142669●●●●●●
2. 169580893 c.984_985insAA p.A329Kfs*33 frameshift 0.00039618●●●●●●
3. 169560695 c.2408-1G>C essential splice site 0.00026635●●●●●●
4. 169586265 c.481+1G>A essential splice site 0.00018838●●●●●●
5. 169572289 c.1680G>A p.W560X nonsense 0.00014904●●●●●●
6. 169562942 c.2308_2311delGAAG p.Glu770ProfsTer2 frameshift 0.00004954●●●●●●
7. 169576340 c.1366G>T p.E456X nonsense 0.00004166●●●●●●
8. 169586464 c.283C>T p.R95X nonsense 0.00004119●●●●●●
9. 169572303 c.1666C>T p.R556X nonsense 0.00002475●●●●●●
10. 169578741 c.1333+1G>A essential splice site 0.00001702●●●●●●
11. 169582166 c.775+1G>C essential splice site 0.00001684●●●●●●
12. 169578759 c.1316dupC p.Ala440SerfsTer17 frameshift 0.00001669●●●●●●
13. 169576185 c.1519+2dupT essential splice site 0.00001662●●●●●●
14. 169566254 c.1866G>A p.W622X nonsense 0.00001660●●●●●●
15. 169581635 c.781C>T p.Q261X nonsense 0.00001654●●●●●●
16. 169582909 c.504C>A p.C168X nonsense 0.00001649●●●●●●
17. 169586645 c.102_105delAAAC p.Asn35ArgfsTer32 frameshift 0.00000847●●●●●●
18. 169566227 c.1891+2T>A essential splice site 0.00000846●●●●●●
19. 169566228 c.1891+1G>T essential splice site 0.00000845●●●●●●
20. 169566233 c.1887C>A p.C629X nonsense 0.00000841●●●●●●
21. 169560693 c.2409delT p.D803Efs*7 frameshift 0.00000832●●●●●●
22. 169566252 c.1868C>A p.S623X nonsense 0.00000831●●●●●●
23. 169578767 c.1308dupG p.Thr437AspfsTer20 frameshift 0.00000831●●●●●●
24. 169588367 c.94G>T p.E32X nonsense 0.00000829●●●●●●
25. 169582192 c.750G>A p.W250X nonsense 0.00000829●●●●●●
26. 169562858 c.2392delC p.Arg798ValfsTer12 frameshift 0.00000828●●●●●●
27. 169580729 c.1147+1G>A essential splice site 0.00000828●●●●●●
28. 169581454 c.961+1G>A essential splice site 0.00000827●●●●●●
29. 169576272 c.1434C>A p.C478X nonsense 0.00000827●●●●●●
30. 169564086 c.2131A>T p.K711X nonsense 0.00000827●●●●●●
31. 169566346 c.1774_1783delTTCAATGTTG p.Phe592AlafsTer38 frameshift 0.00000826●●●●●●
32. 169562942 c.2308G>T p.E770X nonsense 0.00000826●●●●●●
33. 169582933 c.482-2A>T essential splice site 0.00000826●●●●●●
34. 169582917 c.496delA p.Met166CysfsTer32 frameshift 0.00000825●●●●●●
35. 169564022 c.2195delT p.Phe732SerfsTer4 frameshift 0.00000825●●●●●●
36. 169588434 c.27delG p.Leu9PhefsTer21 frameshift 0.00000825●●●●●●
37. 169581605 c.811G>T p.G271X nonsense 0.00000825●●●●●●
38. 169559441 c.2439-1G>T essential splice site 0.00000825●●●●●●
39. 169564010 c.2207dupA p.Gln738ProfsTer4 frameshift 0.00000825●●●●●●
40. 169581523 c.893T>A p.L298X nonsense 0.00000824●●●●●●
41. 169565162 c.2101+1G>A essential splice site 0.00000824●●●●●●
42. 169586428 c.319A>T p.K107X nonsense 0.00000824●●●●●●
43. 169586451 c.296delA p.Lys99ArgfsTer53 frameshift 0.00000824●●●●●●
44. 169586480 c.267C>G p.Y89X nonsense 0.00000824●●●●●●
45. 169581498 c.918C>A p.C306X nonsense 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.