CACNA2D4 truncating variants in ExAC

CACNA2D4 gene summary
CACNA2D4 variants in

The table below lists the CACNA2D4 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. 1969369 c.1882C>T p.R628X nonsense 0.00057475●●●●●●
2. 1953632 c.2406C>A p.Y802X nonsense 0.00041429●●●●●●
3. 1993484 c.1276C>T p.R426X nonsense 0.00010190●●●●●●
4. 1906664 c.3033C>A p.C1011X nonsense 0.00006331●●●●●●
5. 2027412 c.227+1G>A essential splice site 0.00004944●●●●●●
6. 1920830 c.2611C>T p.Q871X nonsense 0.00004428●●●●●●
7. 1955765 c.2337delC p.Asp780ThrfsTer5 frameshift 0.00004149●●●●●●
8. 2019071 c.486+1G>A essential splice site 0.00003470●●●●●●
9. 1995536 c.846C>G p.Y282X nonsense 0.00003396●●●●●●
10. 1906636 c.3061C>T p.Q1021X nonsense 0.00003137●●●●●●
11. 2016672 c.715C>T p.Q239X nonsense 0.00002557●●●●●●
12. 1995536 c.846C>A p.Y282X nonsense 0.00002547●●●●●●
13. 2017164 c.526G>T p.E176X nonsense 0.00002502●●●●●●
14. 1910208 c.2868+1G>A essential splice site 0.00002502●●●●●●
15. 2022272 c.343G>T p.E115X nonsense 0.00002491●●●●●●
16. 1996188 c.829delC p.Arg277GlufsTer16 frameshift 0.00002057●●●●●●
17. 1996188 c.829C>T p.R277X nonsense 0.00002049●●●●●●
18. 1989037 c.1496delC p.Ser499CysfsTer6 frameshift 0.00001926●●●●●●
19. 1989029 c.1504C>T p.Q502X nonsense 0.00001880●●●●●●
20. 1995136 c.1063C>T p.R355X nonsense 0.00001818●●●●●●
21. 1955856 c.2247-1G>A essential splice site 0.00001632●●●●●●
22. 1909182 c.2958C>G p.Y986X nonsense 0.00001573●●●●●●
23. 1963212 c.2153-2A>C essential splice site 0.00001018●●●●●●
24. 1963115 c.2246+2T>G essential splice site 0.00000936●●●●●●
25. 1963116 c.2246+1G>A essential splice site 0.00000930●●●●●●
26. 1963118 c.2245G>T p.E749X nonsense 0.00000920●●●●●●
27. 1993952 c.1254delT p.Tyr418Ter frameshift 0.00000913●●●●●●
28. 1995145 c.1054C>T p.R352X nonsense 0.00000886●●●●●●
29. 2022188 c.426+1G>T essential splice site 0.00000874●●●●●●
30. 1953566 c.2470+2T>C essential splice site 0.00000873●●●●●●
31. 1902926 c.3310-1G>A essential splice site 0.00000871●●●●●●
32. 2019132 c.427-1G>A essential splice site 0.00000865●●●●●●
33. 1953631 c.2407delC p.Arg803AlafsTer30 frameshift 0.00000864●●●●●●
34. 2022191 c.424C>T p.Q142X nonsense 0.00000864●●●●●●
35. 1953621 c.2417C>G p.S806X nonsense 0.00000861●●●●●●
36. 1994014 c.1192C>T p.Q398X nonsense 0.00000845●●●●●●
37. 1919507 c.2659-1G>C essential splice site 0.00000844●●●●●●
38. 1969317 c.1934delC p.Pro645LeufsTer58 frameshift 0.00000841●●●●●●
39. 1902822 c.3413G>A nonsense 0.00000840●●●●●●
40. 1988142 c.1624A>T p.K542X nonsense 0.00000838●●●●●●
41. 1988177 c.1589_1593delTGGTG p.Val530GlyfsTer54 frameshift 0.00000835●●●●●●
42. 1909551 c.2921+1G>A essential splice site 0.00000833●●●●●●
43. 1967742 c.2008+1G>A essential splice site 0.00000832●●●●●●
44. 1904833 c.3226+1A>G essential splice site 0.00000831●●●●●●
45. 2024018 c.309+2T>A essential splice site 0.00000830●●●●●●
46. 1904889 c.3171dupC p.Thr1058HisfsTer3 frameshift 0.00000829●●●●●●
47. 1904903 c.3157delC p.Leu1053TrpfsTer2 frameshift 0.00000829●●●●●●
48. 1904907 c.3153_3154delCC p.Leu1052ProfsTer8 frameshift 0.00000829●●●●●●
49. 1995388 c.993+1G>T essential splice site 0.00000828●●●●●●
50. 1984447 c.1776delC p.Glu593LysfsTer11 frameshift 0.00000828●●●●●●
51. 1965276 c.2055-1G>A essential splice site 0.00000828●●●●●●

* 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.