Table. 1 Results of EIF2AK4 gene mutation test
From: A case of early diagnosis of pulmonary capillary hemangiomatosis in a worker with exposure to silica
Location | Nucleotide change | Amino acid change | Allelic status | DbSNP ID |
|---|---|---|---|---|
Exon1 | c.99 T > C | p.= | Homozygous | rs566792 |
Intron7 | c.859 + 55A > G | Heterozygous | rs510949 | |
Exon9 | c.1321A > C | p.Ile441Leu | Heterozygous | rs2291627 |
Exon11 | c.1667A > G | p.Glu556Gly | Heterozygous | rs2307105 |
Intron16 | c.2631 + 47 T > C | Homozygous | rs4144472 | |
Intron18 | c.2766 + 71A > G | Heterozygous | rs11633992 | |
Intron24 | c.3408-14G > C | Heterozygous | rs2279580 | |
Intron30 | c.4174-17G > T | Homozygous | rs12916520 | |
Intron34 | c.4562-8G > T | Homozygous | rs2250402 | |
Intron36 | c.4728 + 43 T > C | Homozygous | rs4432245 |