Table 3.
rs No. or COSMIC No. | Chromosomal Position | Nucleotide Change | Amino Acid Change |
---|---|---|---|
rs672601311 | 15:50490450 | C>G | P720R |
rs672601307 | 15:50490443 | C>T | S718P |
Identified in this study | 15:50490438 | C>A | S716Y |
COSM416905 | 15:50490450 | C>A | P720Q |
rs753615462 | 15:50490438 | C>T | S716F |
Chromosomal position refers to GRCh38.p7. Amino acid change refers to NP_005145.3.
Abbreviations: COSMIC number, catalog of somatic mutations in cancer database identifier, provided for variants without unique Single Nucleotide Polymorphism database identifier; Rs number, reference single-nucleotide polymorphism in Single Nucleotide Polymorphism database build 150.