Cell line | Genomic positions | Nucleotide change | Amino acid change | Type | Evolutionary conservation | SIFT analysis* |
---|---|---|---|---|---|---|
1CT7 | q12.3 | c. T1517>C | p. M506T | Single AA change | Yes | 0.03 |
1CT7 | q12.3 | c.G1931>C | p. E644D | Single AA change | Yes | 0.101 |
1CT7 | q12.3 | c. T1187>C | p.N396N | Synonymous | No | 0.894 |