Table 1: BRCA1/2 mutations from nine human cell lines.

Sample ID Gene Exon/intron HGVS ID, cDNA Amino acid change Allele frequency Interpretation
HCC1395 BRCA1 ex 20 NM_007294.3:c.5251C > T R1751* 0.940 5-Pathogenic
HCC1569 BRCA2 ex 11 NM_000059.3:c.5583del V1862* 0.230 5-Pathogenic
HCC1937 BRCA1 ex 20 NM_007294.3:c.5266dup E1756fs*74 0.990 5-Pathogenic
MDA-MB-436 BRCA1 in 20 NM_007294.3:c.5277+1G > A N/A 0.997 5-Pathogenic
BT474 BRCA2 ex 25 NM_000059.3:c.9281C > A S3094* 0.660 5-Pathogenic
CAL51 BRCA2 ex 11 NM_000059.3:c.2957del N986 fs*5 0.220 5-Pathogenic
LS180 BRCA2 ex 23 NM_000059.3:c.9097del T3033fs*29 0.530 5-Pathogenic
HCT116 BRCA2 ex 18 NM_000059.3:c.8021dup I2675fs*6 0.480 5-Pathogenic
HCT15 BRCA2 ex 11 NM_000059.3:c.3599_3600del &
NM_000059.3:c.5351del
C1200* & N1784 fs*7 0.280
0.490
5-Pathogenic
5-Pathogenic