Table 1 Germline mutations in p16CDKN2Aand BRCA2 genes.
Gene | Nucleotide | Codon | Base Change | Amino Acid Change | Designation |
|---|---|---|---|---|---|
P16 CDKN2A | 35 | 12 | C to A | Ser to Stop | S12X |
P16 CDKN2A | 71 | 24 | G to C | Arg to Pro | A24P |
P16 CDKN2A | 76 | 26 | G to T | Glu to Stop | E26X |
P16 CDKN2A | 106 | 36 | G to A | Ala to Thr | A36T |
P16 CDKN2A | 176 | 59 | T to G | Val to Gly | V59G |
P16 CDKN2A | 301 | 101 | G to T | Gly to Trp | G101W |
P16 CDKN2A | 326 | 109 | C to T | Ala to Val | A109V |
BRCA2 | 8503 | 2835 | T to C | Ser to Pro | Ser2835Pro |
BRCA2 | 8765 | 2845 | delAG | Stop 2867 | 8765delAG |