SERPING1ID3963Ac.305_317delCCACCCAACCAACnewp.Pro102Tyrfs*41Decreased exon 3 skipping (band B) → p.Asp18Glyfs*26 (NMD?), increased down IRMonoallelic expression of full-length allele (wt only)
Patient: ID396
Variant: c.305_317delCCACCCAACCAACnew p.Pro102Tyrfs*41
ClinVarID/CAID: 1460243
Functional effect: Monoallelic expression of full-length allele (wt only)