CTF1 protein-altering variants in ExAC

The table below lists the CTF1 protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 30910831 c.121G>T p.A41S missense 0.00007540
2. 30910738 c.28G>A p.D10N missense 0.00005767
3. 30910744 c.34C>T p.Q12X nonsense 0.00002472
4. 30910811 c.101C>T p.A34V missense 0.00001653
5. 30910792 c.82C>T p.R28C missense 0.00001649
6. 30910831 c.121G>A p.A41T missense 0.00000838
7. 30910808 c.98T>C p.L33P missense 0.00000826
8. 30910801 c.91C>G p.H31D missense 0.00000825
9. 30910770 c.60_61insC p.His22ProfsTer21 frameshift 0.00000824
10. 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.