Genes | Transcript | Coding | Amino Acid Change | PolyPhen | SIFT | Allele Coverage | Allele Ratio | dbSNP | Clinical significance |
---|---|---|---|---|---|---|---|---|---|
DDR2 | NM_006182.2 |  |  |  |  | C = 1051, T = 938 | C = 0.5284, T = 0.4716 | rs3738807 | Benign |
FGFR3 | NM_001163213.1 | c.1959G > A | p.(=) |  |  | G = 0, A = 1128 | G = 0.0, A = 1.0 | rs7688609 | Likely benign |
EGFR | NM_005228.3 |  |  |  |  | A = 0, T = 3916 | A = 0.0, T = 1.0 | rs1558544 | na |
EGFR | NM_005228.3 | c.2361G > A | p.(=) |  |  | G = 2, A = 3929 | G = 5.0E-4, A = 0.9995 | rs1050171 | Likely benign |
EGFR | NM_005228.3 | c.2582 T > A | p.Leu861Gln | 0.999 | 0.01 | T = 3304, A = 673 | T = 0.8308, A = 0.1692 | rs121913444 | Pathogenic |