TCP1 splice variants in ExAC


The table below lists the TCP1 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. 160201606 c.974-8_974-7delCT splice site 0.00016615
2. 160205883 c.489-4G>A splice site 0.00013187
3. 160205884 c.489-5C>T splice site 0.00008242
4. 160201602 c.974-4T>C splice site 0.00003322
5. 160201472 c.1097+3A>G splice site 0.00001649
6. 160201960 c.973+7C>T splice site 0.00000860
7. 160210429 c.64+8C>T splice site 0.00000851
8. 160210434 c.64+3A>T splice site 0.00000846
9. 160210438 c.63C>T p.N21N splice site 0.00000844
10. 160205104 c.671-5T>C splice site 0.00000834
11. 160201127 c.1098-8T>C splice site 0.00000833
12. 160201127 c.1098-8T>A splice site 0.00000833
13. 160201606 c.974-8C>A splice site 0.00000831
14. 160200825 c.1291-3T>C splice site 0.00000830
15. 160200828 c.1291-6T>C splice site 0.00000830
16. 160200820 c.1293G>A splice site 0.00000829
17. 160201467 c.1097+8C>T splice site 0.00000825
18. 160206532 c.378-4A>C splice site 0.00000824
19. 160205885 c.489-6G>T splice site 0.00000824
20. 160205887 c.489-8delT 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.