| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.74063224G>C | CA367889574 | ELN | c.2044G>C (p.Gly682Arg) c.1858G>C (p.Gly620Arg) c.1957G>C (p.Gly653Arg) c.1615G>C (p.Gly539Arg) c.1873G>C (p.Gly625Arg) c.1450G>C (p.Gly484Arg) c.1876G>C (p.Gly626Arg) c.1771G>C (p.Gly591Arg) c.1801G>C (p.Gly601Arg) c.1714G>C (p.Gly572Arg) c.1786G>C (p.Gly596Arg) c.1816G>C (p.Gly606Arg) c.1828G>C (p.Gly610Arg) c.1591G>C (p.Gly531Arg) c.1822G>C (p.Gly608Arg) c.1843G>C (p.Gly615Arg) c.1837G>C (p.Gly613Arg) c.1831G>C (p.Gly611Arg) c.1819G>C (p.Gly607Arg) c.1807G>C (p.Gly603Arg) c.1792G>C (p.Gly598Arg) c.1762G>C (p.Gly588Arg) c.1774G>C (p.Gly592Arg) | ClinVar dbSNP |
| 7 | g.74063224G>T | CA281480 | ELN | c.2044G>T (p.Gly682Ter) c.1858G>T (p.Gly620Ter) c.1957G>T (p.Gly653Ter) c.1615G>T (p.Gly539Ter) c.1873G>T (p.Gly625Ter) c.1450G>T (p.Gly484Ter) c.1876G>T (p.Gly626Ter) c.1771G>T (p.Gly591Ter) c.1801G>T (p.Gly601Ter) c.1714G>T (p.Gly572Ter) c.1786G>T (p.Gly596Ter) c.1816G>T (p.Gly606Ter) c.1828G>T (p.Gly610Ter) c.1591G>T (p.Gly531Ter) c.1822G>T (p.Gly608Ter) c.1843G>T (p.Gly615Ter) c.1837G>T (p.Gly613Ter) c.1831G>T (p.Gly611Ter) c.1819G>T (p.Gly607Ter) c.1807G>T (p.Gly603Ter) c.1792G>T (p.Gly598Ter) c.1762G>T (p.Gly588Ter) c.1774G>T (p.Gly592Ter) | ClinVar dbSNP |