PLEC truncating variants in ExAC

PLEC gene summary
PLEC variants in

The table below lists the PLEC 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. 144995658 c.8412C>A p.Y2804X nonsense 0.00015237●●●●●●
2. 144998855 c.5323C>T p.Q1775X nonsense 0.00009099●●●●●●
3. 144997382 c.6796G>T p.E2266X nonsense 0.00002591●●●●●●
4. 144997031 c.7147C>T p.Q2383X nonsense 0.00002591●●●●●●
5. 144997187 c.6991C>T p.Q2331X nonsense 0.00001926●●●●●●
6. 144997637 c.6541C>T p.Q2181X nonsense 0.00001887●●●●●●
7. 144997223 c.6955C>T p.R2319X nonsense 0.00001870●●●●●●
8. 144996671 c.7506+1G>A essential splice site 0.00001691●●●●●●
9. 145003363 c.3249dupA p.Ser1084IlefsTer96 frameshift 0.00001688●●●●●●
10. 144993416 c.10654C>T p.Q3552X nonsense 0.00001659●●●●●●
11. 144999398 c.4780delC p.Leu1594TrpfsTer149 frameshift 0.00001492●●●●●●
12. 144999422 c.4756C>T p.R1586X nonsense 0.00001449●●●●●●
13. 145006165 c.2199G>A p.W733X nonsense 0.00001204●●●●●●
14. 144998201 c.5977G>T p.E1993X nonsense 0.00001072●●●●●●
15. 145006297 c.2163+1G>A essential splice site 0.00001002●●●●●●
16. 144990528 c.13542_13543insCCCGCACC p.Gly4515ProfsTer31 frameshift 0.00000995●●●●●●
17. 144997709 c.6469C>T p.Q2157X nonsense 0.00000982●●●●●●
18. 144990529 c.13541_13542insCGGC p.Ser4516TrpfsTer20 frameshift 0.00000958●●●●●●
19. 145001611 c.3804_3807delCCAG p.Ser1268ArgfsTer46 frameshift 0.00000941●●●●●●
20. 144997235 c.6943C>T p.Q2315X nonsense 0.00000917●●●●●●
21. 144994345 c.9725delA p.Lys3242ArgfsTer37 frameshift 0.00000913●●●●●●
22. 145004220 c.2704C>T p.Q902X nonsense 0.00000893●●●●●●
23. 144990567 c.13503C>G p.Y4501X nonsense 0.00000890●●●●●●
24. 144994942 c.9128_9129delTG p.Val3043AlafsTer77 frameshift 0.00000873●●●●●●
25. 144994694 c.9376G>T p.E3126X nonsense 0.00000873●●●●●●
26. 145009037 c.967C>T p.R323X nonsense 0.00000869●●●●●●
27. 144993980 c.10090delA p.Thr3364ArgfsTer44 frameshift 0.00000857●●●●●●
28. 145049344 c.193+1G>A essential splice site 0.00000852●●●●●●
29. 144996788 c.7390C>T p.Q2464X nonsense 0.00000850●●●●●●
30. 145006567 c.2058+1G>C essential splice site 0.00000848●●●●●●
31. 144996748 c.7430delA p.Glu2477GlyfsTer215 frameshift 0.00000846●●●●●●
32. 145011407 c.349_350insC p.Arg117ProfsTer34 frameshift 0.00000845●●●●●●
33. 145008503 c.1233_1234insTGGAGCGGGAGAAGCAGCTC p.Arg412TrpfsTer21 frameshift 0.00000845●●●●●●
34. 144995835 c.8235delG p.Arg2745SerfsTer4 frameshift 0.00000844●●●●●●
35. 145049462 c.76_80delGGGGA p.Gly26HisfsTer30 frameshift 0.00000843●●●●●●
36. 145001174 c.3997C>T p.Gln1333Ter nonsense 0.00000839●●●●●●
37. 145001143 c.4026+2T>C essential splice site 0.00000839●●●●●●
38. 144995661 c.8409delC p.Tyr2804ThrfsTer63 frameshift 0.00000839●●●●●●
39. 145011376 c.380delT p.Leu127ArgfsTer16 frameshift 0.00000839●●●●●●
40. 145000953 c.4124_4125+1delAGG essential splice site 0.00000833●●●●●●
41. 144995237 c.8833C>T p.Q2945X nonsense 0.00000830●●●●●●
42. 144991753 c.12317_12326delTCCTGACCGA p.Ile4106ThrfsTer23 frameshift 0.00000830●●●●●●

* 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.