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disease: High molecular weight kininogen deficiency

id5252
nameHigh molecular weight kininogen deficiency
variant-disease NM_000893.4(KNG1):c.1126-538_1126-512delinsGGTGGTGGTGGTGGTGGTTTGTTTTTGG AND High molecular weight kininogen deficiency
NM_001102416.3(KNG1):c.1216dup (p.His406Profs) AND High molecular weight kininogen deficiency
NM_001102416.2(KNG1):c.1493del (p.Lys498Serfs) AND High molecular weight kininogen deficiency
NM_001102416.2(KNG1):c.1866_1869delTAGT (p.Ser623Lysfs) AND High molecular weight kininogen deficiency