DTNA splice variants in ExAC


The table below lists the DTNA 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. 32418050 c.1086-8T>C splice site 0.00273817
2. 32400877 c.999C>T p.I333I splice site 0.00083210
3. 32407551 c.1002-6T>C splice site 0.00012355
4. 32438366 c.1556+4G>A splice site 0.00010083
5. 32395866 c.604-7T>A splice site 0.00004129
6. 32418806 c.1256+5G>C splice site 0.00003308
7. 32345917 c.68-8C>T splice site 0.00002500
8. 32345918 c.68-7G>A splice site 0.00002498
9. 32431787 c.1345-8delT splice site 0.00002493
10. 32400747 c.877-8C>G splice site 0.00002472
11. 32431899 c.1442+7C>T splice site 0.00001678
12. 32346013 c.148+8T>C splice site 0.00001676
13. 32373997 c.149-4G>A splice site 0.00000940
14. 32374002 c.150G>A splice site 0.00000912
15. 0 c.-1-4A>G splice site 0.00000863
16. 32386176 c.363-7T>C splice site 0.00000838
17. 32386177 c.363-6A>G splice site 0.00000837
18. 32418138 c.1163+3A>C splice site 0.00000834
19. 32418053 c.1086-5A>G splice site 0.00000834
20. 32418133 c.1161A>G splice site 0.00000832
21. 32345926 c.69G>A splice site 0.00000830
22. 32428254 c.1257-6T>C splice site 0.00000830
23. 32428257 c.1257-3T>C splice site 0.00000829
24. 32395868 c.604-5T>C splice site 0.00000826
25. 32418709 c.1164G>A splice site 0.00000824
26. 32400882 c.1001+3G>A splice site 0.00000824
27. 32446070 c.1654-5T>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.