CTF1 variants in ExAC


The table below lists the CTF1 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. 30913697 c.443G>T p.R148L missense 0.01666667
2. 30913718 c.464C>A p.P155H missense 0.00209205
3. 30913850 c.596G>A p.G199D missense 0.00135187
4. 30910793 c.83G>A p.R28H missense 0.00015662
5. 30910765 c.55C>A p.L19I missense 0.00013183
6. 30907972 c.8G>A p.R3Q missense 0.00011325
7. 30907997 c.25+8G>T splice site 0.00011276
8. 30913412 c.158G>A p.G53E missense 0.00010910
9. 30910861 c.144+7G>T splice site 0.00007927
10. 30910831 c.121G>T p.A41S missense 0.00007540
11. 30910738 c.28G>A p.D10N missense 0.00005767
12. 30910744 c.34C>T p.Q12X nonsense 0.00002472
13. 30910811 c.101C>T p.A34V missense 0.00001653
14. 30910792 c.82C>T p.R28C missense 0.00001649
15. 30910831 c.121G>A p.A41T missense 0.00000838
16. 30910808 c.98T>C p.L33P missense 0.00000826
17. 30910801 c.91C>G p.H31D missense 0.00000825
18. 30910730 c.26-6C>T splice site 0.00000824
19. 30910770 c.60_61insC p.His22ProfsTer21 frameshift 0.00000824
20. 30910750 c.40G>A p.D14N missense 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.