SERPING1H024Ac.685 + 2_685 + 13delnewdis DExon 4 skipping (band C), use of cr: c.649 (band B), use of cr: c.685 + 132 (band A)p.Gly184_Pro228delp.Gly217_Pro228delp.Asp229Glyfs*11 (NMD?)Normal exon inclusion (band A) *, exon 4 skipping (band B), exon 4 + 6 skippingp.Gly184_Pro228delp.[Gly184_Pro228del;Ala297Glyfs*25] (NMD?)
Patient: H02
Variant: c.685 + 2_685 + 13del
CAID: CA2580612034
Functional effect: Normal exon inclusion (band A) *, exon 4 skipping (band B), exon 4 + 6 skipping. Observed in blood.