CACNA2D1 splice variants in ExAC

CACNA2D1 gene summary
CACNA2D1 variants in

The table below lists the CACNA2D1 splice 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. 81695846 c.659-6_659-3delTTTTinsTTT splice site 0.32911007●●●●●●
2. 0 c.178-12dupT splice site 0.20891829●●●●●●
3. 81765998 c.355-6_355-5insT splice site 0.14931279●●●●●●
4. 81603872 c.1956-4[3]T splice site 0.10626034●●●●●●
5. 81579833 c.3160-9dupT splice site 0.09444557●●●●●●
6. 81695846 c.659-6_659-5delTT splice site 0.07461777●●●●●●
7. 81695847 c.659-7_659-6insT splice site 0.04142048●●●●●●
8. 81765997 c.355-5delT splice site 0.03126302●●●●●●
9. 81695846 c.659-6_659-4delTTT splice site 0.01166474●●●●●●
10. 81765998 c.355-6_355-5insTT splice site 0.00937110●●●●●●
11. 81603872 c.1956-4dupT splice site 0.00399686●●●●●●
12. 81695847 c.659-7_659-6insTT splice site 0.00319790●●●●●●
13. 81695846 c.659-6_659-3delTTTT splice site 0.00149236●●●●●●
14. 81603872 c.1956-4[4]T splice site 0.00133229●●●●●●
15. 81603872 c.1956-4delT splice site 0.00123412●●●●●●
16. 81596485 c.2502C>T p.D834D splice site 0.00115996●●●●●●
17. 81591346 c.2837-7A>G splice site 0.00057980●●●●●●
18. 81746495 c.397-6A>G splice site 0.00040525●●●●●●
19. 81593515 c.2727+8delA splice site 0.00038083●●●●●●
20. 81598298 c.2309-9T>A splice site 0.00033507●●●●●●
21. 81596978 c.2397T>A p.V799V splice site 0.00020779●●●●●●
22. 81620570 c.1735-8delC splice site 0.00019091●●●●●●
23. 81765996 c.355-4G>T splice site 0.00018222●●●●●●
24. 81620568 c.1735-6T>C splice site 0.00017431●●●●●●
25. 81643713 c.1222+4A>T splice site 0.00014531●●●●●●
26. 81635161 c.1441-6T>C splice site 0.00012390●●●●●●
27. 81689851 c.780-8A>G splice site 0.00011683●●●●●●
28. 81593422 c.2730A>T p.P910P splice site 0.00008379●●●●●●
29. 81714215 c.528A>C p.S176S splice site 0.00008354●●●●●●
30. 81591349 c.2837-10G>A splice site 0.00004144●●●●●●
31. 81593514 c.2727+9T>C splice site 0.00004139●●●●●●
32. 81695839 c.660T>C splice site 0.00004112●●●●●●
33. 81593684 c.2575-9C>G splice site 0.00003478●●●●●●
34. 81667384 c.1038+9C>T splice site 0.00003298●●●●●●
35. 81603872 c.1956-4[5]T splice site 0.00002805●●●●●●
36. 81589148 c.2967-3C>A splice site 0.00002782●●●●●●
37. 81601086 c.2141+7A>G splice site 0.00002515●●●●●●
38. 81596527 c.2464-4T>G splice site 0.00002512●●●●●●
39. 81620493 c.1796+8A>C splice site 0.00002490●●●●●●
40. 81594907 c.2574+3A>C splice site 0.00002481●●●●●●
41. 81978969 c.96-4G>A splice site 0.00002473●●●●●●
42. 81634816 c.1516-3C>A splice site 0.00002351●●●●●●
43. 81634732 c.1590+7A>G splice site 0.00002033●●●●●●
44. 81591821 c.2781-10A>T splice site 0.00001945●●●●●●
45. 81603872 c.1956-4T>C splice site 0.00001801●●●●●●
46. 81714222 c.527-6dupT splice site 0.00001684●●●●●●
47. 81601086 c.2141+7A>T splice site 0.00001677●●●●●●
48. 81588583 c.3159+8C>A splice site 0.00001660●●●●●●
49. 81620562 c.1735A>C splice site 0.00001657●●●●●●
50. 81635074 c.1515+7T>C splice site 0.00001656●●●●●●
51. 81626492 c.1662+3G>A splice site 0.00001648●●●●●●
52. 81591757 c.2835A>G splice site 0.00001154●●●●●●
53. 81579831 c.3160-7dupA splice site 0.00001020●●●●●●
54. 81598292 c.2309-3T>C splice site 0.00000944●●●●●●
55. 81612656 c.1874-6T>C splice site 0.00000918●●●●●●
56. 81596475 c.2502+10C>A splice site 0.00000858●●●●●●
57. 81598296 c.2309-7T>G splice site 0.00000854●●●●●●
58. 81714222 c.527-6T>G splice site 0.00000844●●●●●●
59. 81693674 c.729-4T>C splice site 0.00000844●●●●●●
60. 81593422 c.2730A>G splice site 0.00000838●●●●●●
61. 81599305 c.2205-5C>A splice site 0.00000837●●●●●●
62. 81641562 c.1273-3C>A splice site 0.00000836●●●●●●
63. 81598197 c.2395+6G>T splice site 0.00000833●●●●●●
64. 81598197 c.2395+6G>A splice site 0.00000833●●●●●●
65. 81588583 c.3159+8C>T splice site 0.00000830●●●●●●
66. 81588672 c.3078T>C splice site 0.00000830●●●●●●
67. 81620498 c.1796+3A>G splice site 0.00000829●●●●●●
68. 81593515 c.2727+8A>T splice site 0.00000828●●●●●●
69. 81600053 c.2142C>T splice site 0.00000827●●●●●●
70. 81611949 c.1895-6T>G splice site 0.00000827●●●●●●
71. 81635164 c.1441-9T>C splice site 0.00000827●●●●●●
72. 81635163 c.1441-8T>G splice site 0.00000827●●●●●●
73. 81635162 c.1441-7A>T splice site 0.00000826●●●●●●
74. 81635160 c.1441-5_1441-3delTAT splice site 0.00000826●●●●●●
75. 81611877 c.1955+6T>A splice site 0.00000826●●●●●●
76. 81799858 c.354+8C>A splice site 0.00000825●●●●●●
77. 81714077 c.658+8C>T splice site 0.00000824●●●●●●
78. 81746361 c.525C>A splice site 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.