SERPING1ID267Ac.1225_1249 + 19delnew (p.Met409Asnfs*14)dis DExon 7 skipping (band D), use of cr: c.1206 (band C), use of cr: c.1249 + 20 (HeLa and HepG2 only), use of cr: c.1249 + 64, use of cr: c.1249 + 67 (HeLa and HepG2 only), use of cr: c.1249 + 137 (band B), down IR (band A)p.Val344Asnfs*14p.Val403Asnfs*14 p.Met409_Leu416delp.Met409Glyfs*14p.Met409Glyfs*14p.Met409Glyfs*14p.Met409Glyfs*14Normal exon inclusion (band B) *,exon 7 skipping (band C),use of cr: c.1249 + 64use of cr: c.1249 + 67use of cr: c.1249 + 137 (band A)p.Val344Asnfs*14p.Met409Glyfs*14p.Met409Glyfs*14p.Met409Glyfs*14
Patient: ID26
Variant: c.1225_1249 + 19del (p.Met409Asnfs*14)
CAID: CA2580612035
Functional effect: Normal exon inclusion (band B) *, exon 7 skipping (band C), use of cryptic splice site: c.1249 + 64; use of cryptic splice site: c.1249 + 67; use of cryptic splice site: c.1249 + 137 (band A). Observed in blood.