DES splice variants in ExAC

DES gene summary
DES variants in DCM

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 frequency▼Populations*
1. 220286064 c.1026C>T p.N342N splice site 0.00649512●●●●●●
2. 220285209 c.736-8C>A splice site 0.00005817●●●●●●
3. 220284877 c.639G>A p.A213A splice site 0.00005766●●●●●●
4. 220284969 c.640-4C>G splice site 0.00006591●●●●●●
5. 220284975 c.642C>T p.D214D splice site 0.00009063●●●●●●
6. 220288548 c.1288+6T>C splice site 0.00000824●●●●●●
7. 220285381 c.897+3_897+4delGG splice site 0.00224972●●●●●●
8. 220283773 c.578+11G>A splice site 0.01036132●●●●●●
9. 220286051 c.1024-11C>A splice site 0.00011636●●●●●●
10. 220286053 c.1024-9C>T splice site 0.00003323●●●●●●
11. 220285678 c.1023+3_1023+4insAGTCCCTGCCCACCTGGCC splice site 0.00000898●●●●●●
12. 220286055 c.1024-7C>G splice site 0.00003323●●●●●●
13. 220286280 c.1242C>T splice site 0.00000838●●●●●●
14. 220288499 c.1245G>A splice site 0.00000824●●●●●●
15. 220290664 c.1372-7_1372-6insC splice site 0.00005768●●●●●●
16. 220290673 c.1374C>T splice site 0.00009064●●●●●●

* 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.