Patient NO. | Gender | Age | Stage | Gene | Exon | Coding seq change | Protein_change | HOM/ HET | Mutation_type | Clinical_significance | map_location | from | to |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Patient014 | Male | 67 | IV | BRCA2 | 11 | c.6547delG | p.Glu2183fs | HET | frameshift-deletion | likely pathogenic | chr13:32915038 | AG | A |
Patient043 | Male | 66 | IIB | PALB2 | 4 | c.1317delG | p.Gly439fs | HET | frameshift-deletion | pathogenic | chr16:23646549 | AC | A |
Patient066 | Female | 47 | IIIB | FANCA | 4 | c.367 C > T | p.Gln123Ter | HET | stopgain | likely pathogenic | chr16:89877396 | G | A |
Patient095 | Female | 74 | IIIB | ATM | 34 | c.5170G > T | p.Glu1724Ter | HET | stopgain | likely pathogenic | chr11:108170605 | G | T |
Patient145 | Female | 66 | IIB | ATM | 57 | c.8395_8404del TTTCA GTGCC | p.Phe2799fs | HET | frameshift-deletion | pathogenic | chr11:108214064 | ATTTCA GTGCC | A |
Patient123 | Female | 50 | IB | MRE11 | 8 | c.791 C > A | p.Ser264Ter | HET | stopgain | likely pathogenic | chr11:94204794 | G | T |
Patient009 | Male | 73 | IIIA | MSH6 | 4 | c.3037_3041del AAGAA | p.Lys1013fs | HET | frameshift-deletion | pathogenic | chr2:48028155 | TGAAAA | T |
Patient117 | Male | 76 | IIIB | FANCA | 32 | c.3169 C > T | p.Gln1057Ter | HET | stopgain | likely pathogenic | chr16:89816208 | G | A |
Patient041 | Male | 68 | IB | PALB2 | 4 | c.246dupA | p.His83fs | HET | frameshift-insertion | likely pathogenic | chr16:23647620 | G | GT |
Patient132 | Male | 63 | IIIB | MSH3 | 22 | c.3083dupA | p.Tyr1028fs | HET | frameshift-insertion | likely pathogenic | chr5:80160713 | T | TA |
Patient030 | Male | 65 | IIIB | BARD1 | 4 | c.448 C > T | p.Arg150Ter | HET | stopgain | pathogenic | chr2:215646150 | G | A |