SERPING1ID4085Ac.686-12A > Gnewdn Ac + dis AcUse of dn: c.686–11 (100%)p.Asp229Alafs*8 (NMD?)Normal exon inclusion *, use of dn: c.686-11p.Asp229Alafs*8 (NMD?)
Patient: ID408
Variant: c.686-12A > G
CAID: CA2580612032
Functional effect: Normal exon inclusion *, use of de novo splice site: c.686-11. Observed in blood.
SERPING1ID4085Ac.686-12A > Gnewdn Ac + dis AcUse of dn: c.686–11 (100%)p.Asp229Alafs*8 (NMD?)Normal exon inclusion *, use of dn: c.686-11p.Asp229Alafs*8 (NMD?)
Patient: ID408
Variant: c.686-12A > G
CAID: CA2580612032
Functional effect: Normal exon inclusion *, use of de novo splice site: c.686-11. Observed in blood.