FN1 truncating variants in ExAC

FN1 gene summary
FN1 variants in

The table below lists the FN1 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. 216245567 c.5401G>T p.E1801X nonsense 0.00003298●●●●●●
2. 216252933 c.4342+2T>C essential splice site 0.00002474●●●●●●
3. 216245599 c.5369_5370delCA p.Thr1790SerfsTer9 frameshift 0.00001648●●●●●●
4. 216248125 c.4976_4977delCT p.Pro1659ArgfsTer20 frameshift 0.00001647●●●●●●
5. 216240442 c.5888-1G>A essential splice site 0.00000833●●●●●●
6. 216271185 c.2762_2763delTG p.Val921GlufsTer10 frameshift 0.00000831●●●●●●
7. 216240436 c.5893C>T p.Q1965X nonsense 0.00000830●●●●●●
8. 216257881 c.3842C>G p.S1281X nonsense 0.00000829●●●●●●
9. 216279673 c.1828_1835delGGTCCTGT p.Gly610ArgfsTer6 frameshift 0.00000827●●●●●●
10. 216247008 c.5091_5092delGG p.Glu1698ValfsTer4 frameshift 0.00000827●●●●●●
11. 216226697 c.7357_7360dupAACA p.Thr2454LysfsTer3 frameshift 0.00000827●●●●●●
12. 216232751 c.6854-1G>T essential splice site 0.00000826●●●●●●
13. 216289050 c.1037-2A>C essential splice site 0.00000826●●●●●●
14. 216298143 c.319C>T p.R107X nonsense 0.00000825●●●●●●
15. 216243879 c.5596_5597insTT p.Ser1866PhefsTer17 frameshift 0.00000824●●●●●●
16. 216248749 c.4888C>T p.R1630X nonsense 0.00000824●●●●●●
17. 216230227 c.7144+1G>A essential splice site 0.00000824●●●●●●
18. 216236799 c.6547G>T p.E2183X nonsense 0.00000824●●●●●●
19. 216249613 c.4699A>T p.R1567X nonsense 0.00000824●●●●●●
20. 216243882 c.5593_5594delAG p.Ser1865LeufsTer15 frameshift 0.00000824●●●●●●
21. 216269262 c.3103C>T p.R1035X nonsense 0.00000824●●●●●●
22. 216248908 c.4730-1G>A essential splice site 0.00000824●●●●●●
23. 216285394 c.1675+2T>A essential splice site 0.00000824●●●●●●
24. 216236631 c.6714+1G>A essential splice site 0.00000824●●●●●●
25. 216299449 c.247C>T p.R83X nonsense 0.00000824●●●●●●
26. 216256450 c.4157T>G p.L1386X nonsense 0.00000824●●●●●●
27. 216226279 c.7433A>C p.Ter2478SerextTer18 nonsense 0.00000824●●●●●●
28. 216274295 c.2290C>T p.Q764X nonsense 0.00000824●●●●●●
29. 216286868 c.1492dupT p.Cys498LeufsTer24 frameshift 0.00000824●●●●●●
30. 216288072 c.1393+1G>T essential splice site 0.00000824●●●●●●
31. 216226286 c.7426C>T p.R2476X nonsense 0.00000824●●●●●●
32. 216256514 c.4093C>T p.R1365X nonsense 0.00000824●●●●●●
33. 216271898 c.2665delA p.Ser889ValfsTer30 frameshift 0.00000824●●●●●●
34. 216245729 c.5239C>T p.Q1747X nonsense 0.00000824●●●●●●
35. 216289032 c.1053C>G p.Y351X 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.