which shows all types of variants snv: shows the single nucleotide variants and small indels. sv: shows structural variants str: shows the short tandem repeats. All of these screens can be configured ...
In the human EPO gene sequence, the variant c.577del (rs369859204) is a single nucleotide deletion (SND) at position 577 of the cDNA in exon 5. The deletion causes the loss of the nearby stop codon ...