Frameshift HGVS Translation

Convert HGVSc variant descriptions (e.g., NM_001370341:c.551_554del) into wild-type and mutant CDS/protein sequences, and predict NMD susceptibility (NMDER), NMD escape types: • NMDER1: start-proximal (≤150 nt from start codon); NMDER2*: long exon (>400 nt from splice donor); NMDER3*: distal (last exon / final 50 nt).