PLN non-truncating variants in ExAC

The table below lists the PLN non-truncating 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. 118880088 c.4G>C p.E2Q missense 0.00000833
2. 118880100 c.16T>G p.Y6D missense 0.00000830
3. 118880100 c.16T>C p.Y6H missense 0.00000830
4. 118880110 c.26G>A p.R9H missense 0.00000829
5. 118880118 c.34A>G p.I12V missense 0.00001655
6. 118880119 c.35T>C p.I12T missense 0.00000827
7. 118880120 c.36A>G p.I12M missense 0.00002482
8. 118880125 c.41G>T p.R14I missense 0.00000827
9. 118880145 c.61C>A p.P21T missense 0.00005779
10. 118880157 c.73C>T p.R25C missense 0.00000825
11. 118880225 c.141C>G p.I47M missense 0.00000824
12. 118880229 c.145G>A p.V49M missense 0.00001648
13. 118880232 c.148A>C p.M50L missense 0.00001648
14. 118880235 c.151C>T p.L51F 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.