Batch file upload - MobiDetails

This form will allow you to upload a text file containing multiple variant descriptions. Please add one variant per line. Descriptions must be one of the 3 following forms:

NM_206933.2:c.2276G>T or NM_206933.2(USH2A):c.2276G>T
i.e. RefSeq_accession_number.version:hgvs_cDNA_nomenclature or
RefSeq_accession_number.version(HGNC_gene_symbol):hgvs_cDNA_nomenclature

NC_000001.11:g.40817273T>G;KCNQ4
i.e. NCBI_chromosome:hgvs_genomic_nomenclature;hgnc_gene_symbol - hg38/hg19

rs772808534
i.e. NCBI dbSNP rs identifier (much more time-consuming than the HGVS based forms).

Mixed forms are allowed, as well as blank and comment lines. Comment lines begin with a #.
File extension must be '.txt'. If you are logged in while submitting, you will receive an email when the job is done.

File upload is limited to 3ko (80-90 variants, around 10 minutes treatment - much more time-consuming if you submit dbsnp rs ids, in this case please submit max 40 variants) due to the annotation time (several seconds per variant).
If you need to annotate more variants at once, check the MDUtils package at github, and the associated documentation, or send us an .