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Table 1 Breakdown of mutations found in the HAE cohort

From: Abstracts of 11th C1-inhibitor Deficiency & Angioedema Workshop

Number of patients Observed mutation
14 SERPING1:EX8.1:NM_000062:c.1397G>A:p.R466H
3 NM_000062:c.1305delT:p.L436Ffs*14
3 NM_000062:c.1202T>A:p. I401 N
2 NM_000062:c.1029 + 1G>A
1 SERPING1:NM000062:EX3-1:c.265C>T:p.Q89*
1 NM_000062.1:c.1143delC:p.I382Sfs*15
1 SERPING1:NM_000062:EX7:c.1187_1188insT:p.T397Nfs*28
1 SERPING1:EX3.1:NM_000062: c.373G>T:p.G125*
10 Unsolved
36 Total Patients