FHOD3 splice variants in ExAC


The table below lists the FHOD3 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 frequencyPopulations*
1. 34289364 c.2008+10G>A splice site 0.13636444
2. 34261542 c.1445+9G>A splice site 0.00116724
3. 34205470 c.958-4C>T splice site 0.00065657
4. 34191909 c.814-6T>C splice site 0.00022620
5. 34320811 c.3234+10C>T splice site 0.00008375
6. 34267086 c.1446-5A>G splice site 0.00007056
7. 34156513 c.606+5delG splice site 0.00006617
8. 34322696 c.3235-4A>G splice site 0.00003323
9. 34335079 c.3708-3C>T splice site 0.00002562
10. 34238159 c.1310+8C>G splice site 0.00002481
11. 34359404 c.4238-7A>T splice site 0.00002479
12. 34273168 c.1497-4T>A splice site 0.00002392
13. 34267149 c.1496+8T>C splice site 0.00002120
14. 34273392 c.1711+6T>C splice site 0.00001924
15. 34174741 c.607-9T>C splice site 0.00001811
16. 34326901 c.3517-7T>A splice site 0.00001724
17. 33952637 c.273-6C>T splice site 0.00001721
18. 33952638 c.273-5G>A splice site 0.00001717
19. 34327103 c.3707+5delG splice site 0.00001716
20. 33952706 c.336C>A splice site 0.00001703
21. 34298682 c.2892+4C>G splice site 0.00001687
22. 34092393 c.406-8C>A splice site 0.00001669
23. 34238159 c.1310+8C>T splice site 0.00001654
24. 34340753 c.4075+8C>G splice site 0.00001052
25. 34340753 c.4075+8C>T splice site 0.00001052
26. 34267146 c.1496+5G>A splice site 0.00001048
27. 34340750 c.4075+5C>T splice site 0.00001031
28. 34174860 c.717A>G splice site 0.00001014
29. 34205470 c.958-4C>G splice site 0.00000925
30. 34349397 c.4237+8C>A splice site 0.00000890
31. 34092509 c.511+3A>G splice site 0.00000870
32. 33952637 c.273-6C>G splice site 0.00000860
33. 34327104 c.3707+6T>C splice site 0.00000859
34. 33952638 c.273-5G>T splice site 0.00000859
35. 33952706 c.336C>T p.I112I splice site 0.00000852
36. 34298684 c.2892+6G>T splice site 0.00000844
37. 34289059 c.1713A>C splice site 0.00000842
38. 34320807 c.3234+6C>T splice site 0.00000835
39. 34322693 c.3235-7C>T splice site 0.00000833
40. 34092394 c.406-7C>T splice site 0.00000833
41. 34323988 c.3355-7A>G splice site 0.00000832
42. 33935606 c.270C>T splice site 0.00000831
43. 33935496 c.166-6T>C splice site 0.00000829
44. 34310603 c.2893-6A>G splice site 0.00000828
45. 34156410 c.512-4G>A splice site 0.00000827
46. 34261391 c.1311-8A>G splice site 0.00000825
47. 34261393 c.1311-6C>G splice site 0.00000825
48. 34182632 c.719-5C>T splice site 0.00000824
49. 34182737 c.813+6T>C 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.