SERPING1P1003Ac.120_121delAGp.Gly41Argfs*16Increased exon 3 skipping (band B) → p.Asp18Glyfs*26 (NMD?), decreased down IRDecreased expression of full-length mutant allele compared to wt allele
Patient: P100
Variant: c.120_121delAG p.Gly41Argfs*16
CAID: CA2580612030
Functional effect: Decreased expression of full-length mutant allele compared to wt allele. Observed in blood.