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. 2020 Apr;32(2):149–162. doi: 10.21147/j.issn.1000-9604.2020.02.03

9. Summary of deleterious gBRCA mutations .

No. of patients Gene Location Mutation type AA change
gBRCA, germline BRCA1/2.
193 BRCA1 c.3329dupA Frameshift Q1111Afs*5
126 BRCA1 c.3627dupA Frameshift E1210Rfs*9
105 BRCA1 c.3756_3759delGTCT Frameshift S1253Rfs*10
198 BRCA1 c.4065_4068delTCAA Frameshift N1355Kfs*10
210 BRCA1 c.5470_5477delTGCCCAAT Frameshift I1824Dfs*
107 BRCA1 c.981_982delAT Nonsense C328*
157 BRCA1 c.376C>T Nonsense Q126*
216 BRCA1 c.3841C>T Nonsense Q128*
98 BRCA1 c.4612C>T Nonsense Q1538*
10 BRCA2 c.2059_2063delGATTA Frameshift D687*
215 BRCA2 c.3319C>T Nonsense Q1107*
83 BRCA2 c.4240delA Frameshift T1414Rfs*5
136 BRCA2 c.6288_6289delTA Frameshift T2097Vfs*
113 BRCA2 c.6628G>T Nonsense E2210*