NEBL truncating variants in ExAC

NEBL gene summary
NEBL variants in

The table below lists the NEBL 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. 21177128 c.267C>G p.Y89X nonsense 0.00129722●●●●●●
2. 21098829 c.2519-2delA essential splice site 0.00025675●●●●●●
3. 21185931 c.109_110delTT p.Leu37LysfsTer13 frameshift 0.00016473●●●●●●
4. 21115408 c.1837C>T p.R613X nonsense 0.00008250●●●●●●
5. 21102891 c.2323delG p.Glu775LysfsTer9 frameshift 0.00007432●●●●●●
6. 21178773 c.258+1G>A essential splice site 0.00005786●●●●●●
7. 21104589 c.2206G>T p.E736X nonsense 0.00005780●●●●●●
8. 21129751 c.1255G>T p.E419X nonsense 0.00005512●●●●●●
9. 21148641 c.798+1G>A essential splice site 0.00004996●●●●●●
10. 21185886 c.153+1G>A essential splice site 0.00004942●●●●●●
11. 21147168 c.903+1G>T essential splice site 0.00004143●●●●●●
12. 21158716 c.535C>T p.R179X nonsense 0.00004123●●●●●●
13. 21108385 c.2023_2026delAGAG p.Arg675Ter frameshift 0.00004119●●●●●●
14. 21147168 c.903+1G>A essential splice site 0.00003314●●●●●●
15. 21141578 c.904C>T p.R302X nonsense 0.00002842●●●●●●
16. 21097568 c.2632C>T p.R878X nonsense 0.00002485●●●●●●
17. 21098734 c.2611+1G>T essential splice site 0.00002485●●●●●●
18. 21097556 c.2644C>T p.R882X nonsense 0.00002481●●●●●●
19. 21117477 c.1758_1762delTCAAC p.Gln587LysfsTer3 frameshift 0.00001696●●●●●●
20. 21148702 c.738C>G p.Y246X nonsense 0.00001664●●●●●●
21. 21104553 c.2241+1G>A essential splice site 0.00001652●●●●●●
22. 21158749 c.502C>T p.Q168X nonsense 0.00001651●●●●●●
23. 21147215 c.857T>A p.L286X nonsense 0.00001651●●●●●●
24. 21106552 c.2125G>T p.E709X nonsense 0.00001648●●●●●●
25. 21129759 c.1247T>A p.L416X nonsense 0.00000965●●●●●●
26. 21129753 c.1253delA p.Asn418MetfsTer3 frameshift 0.00000928●●●●●●
27. 21074678 c.3043T>G p.Ter1015GluextTer7 nonsense 0.00000869●●●●●●
28. 21120513 c.1450-1G>A essential splice site 0.00000840●●●●●●
29. 21141547 c.935_936dupAA p.Gly313LysfsTer26 frameshift 0.00000835●●●●●●
30. 21147265 c.807C>G p.Y269X nonsense 0.00000834●●●●●●
31. 21112172 c.1927_1928delAA p.Lys643GlufsTer3 frameshift 0.00000830●●●●●●
32. 21104648 c.2149-2A>G essential splice site 0.00000830●●●●●●
33. 21148652 c.788dupT p.Ala264GlyfsTer15 frameshift 0.00000830●●●●●●
34. 21104647 c.2149-1G>A essential splice site 0.00000829●●●●●●
35. 21098829 c.2519-2A>G essential splice site 0.00000829●●●●●●
36. 21134242 c.1172delT p.Leu391Ter frameshift 0.00000828●●●●●●
37. 21120124 c.1671+1G>A essential splice site 0.00000828●●●●●●
38. 21120497 c.1465_1466delGA p.Asp489SerfsTer4 frameshift 0.00000828●●●●●●
39. 21098768 c.2578_2579delAA p.Asn860TyrfsTer4 frameshift 0.00000827●●●●●●
40. 21120491 c.1471G>T p.E491X nonsense 0.00000827●●●●●●
41. 21101834 c.2382dupG p.Arg795GlufsTer28 frameshift 0.00000827●●●●●●
42. 21147184 c.888delC p.Ser296ArgfsTer42 frameshift 0.00000826●●●●●●
43. 21102885 c.2329C>T p.Q777X nonsense 0.00000826●●●●●●
44. 21097438 c.2761+1G>T essential splice site 0.00000826●●●●●●
45. 21177025 c.369+1G>A essential splice site 0.00000826●●●●●●
46. 21102948 c.2266C>T p.Q756X nonsense 0.00000826●●●●●●
47. 21097437 c.2761+2T>C essential splice site 0.00000826●●●●●●
48. 21106528 c.2148+1G>T essential splice site 0.00000825●●●●●●
49. 21120452 c.1510_1513delGACA p.Asp504LeufsTer23 frameshift 0.00000825●●●●●●
50. 21115374 c.1869+2dupT essential splice site 0.00000825●●●●●●
51. 21141473 c.1008+1G>T essential splice site 0.00000825●●●●●●
52. 21108376 c.2032C>T p.R678X nonsense 0.00000824●●●●●●
53. 21106546 c.2131C>T p.Q711X nonsense 0.00000824●●●●●●
54. 21157592 c.684+1G>T essential splice site 0.00000824●●●●●●
55. 21124509 c.1382delG p.Gly461GlufsTer20 frameshift 0.00000824●●●●●●
56. 21157640 c.637delA p.Arg213AspfsTer27 frameshift 0.00000824●●●●●●
57. 21124554 c.1339-2A>G essential splice site 0.00000824●●●●●●
58. 21185957 c.83_93delTCTTCTATAAG p.Val28AlafsTer4 frameshift 0.00000824●●●●●●
59. 21108385 c.2023A>T p.Arg675Ter nonsense 0.00000824●●●●●●
60. 21106600 c.2077C>T p.Q693X nonsense 0.00000824●●●●●●
61. 21169808 c.395delC p.Ala132ValfsTer11 frameshift 0.00000824●●●●●●
62. 21139341 c.1099C>T p.Q367X 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.