DES splice variants in ExAC


The table below lists the DES 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. 220283773 c.578+11G>A splice site 0.01036132
2. 220286064 c.1026C>T p.N342N splice site 0.00649512
3. 220285381 c.897+3_897+4delGG splice site 0.00224972
4. 220286051 c.1024-11C>A splice site 0.00011636
5. 220290673 c.1374C>T splice site 0.00009064
6. 220284975 c.642C>T p.D214D splice site 0.00009063
7. 220284969 c.640-4C>G splice site 0.00006591
8. 220285209 c.736-8C>A splice site 0.00005817
9. 220290664 c.1372-7_1372-6insC splice site 0.00005768
10. 220284877 c.639G>A p.A213A splice site 0.00005766
11. 220286055 c.1024-7C>G splice site 0.00003323
12. 220286053 c.1024-9C>T splice site 0.00003323
13. 220285678 c.1023+3_1023+4insAGTCCCTGCCCACCTGGCC splice site 0.00000898
14. 220286280 c.1242C>T splice site 0.00000838
15. 220288499 c.1245G>A splice site 0.00000824
16. 220288548 c.1288+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.