oddly enough I just was looking at someone's data with chr13:20189491 A>G (gnomAD genomes v4 AF=0.00941) - also 0/1 genotype.
I used WGS from Nebula - but would like to back that up with Nanopore raw DNA reads targeted on specific genes where I need more accuracy and to investigate structural differences that Illumina or Nebula's MGI machines can't pick up... also for the additional methylation data.
Now you can buy a portable thermocycler with 13k rpm centrifuge all-in-one with gel electrophoresis - BentoLab for £1299 in UK. Carry case £54. (They sell a Dipstick DNA Extraction kit for £38.50, pipettes, and mastermix...)
https://pmc.ncbi.nlm.nih.gov/articles/PMC3849550/
You can sequence a human genome on a MinION - but you need to purchase 5 flow cells to reach 11X (if they are used correctly).. https://nanoporetech.com/news/news-human-genome-minion