SERPING1P133Ac.550G > Tnew (p.Gly184Trp)dis DExon 3 skipping (cca 95%) (band B), down IR (band A)p.Asp18Glyfs*26 (NMD?)p.Gly184Cysfs*72 (NMD?)N.A.–
Patient: P13
Variant: c.550G > T (p.Gly184Trp)
CAID: CA380695715
Functional effect: N/A
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