| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60862244C>T | CA16618685 | CHD7 | n.1055C>T n.259C>T c.*938C>T (n.*938C>T) c.7879C>T (p.Arg2627Ter) c.1732C>T (p.Arg578Ter) n.301C>T n.1341C>T c.7969C>T (p.Arg2657Ter) c.7966C>T (p.Arg2656Ter) c.7747C>T (p.Arg2583Ter) c.5956C>T (p.Arg1986Ter) c.5506C>T (p.Arg1836Ter) c.4714C>T (p.Arg1572Ter) c.7876C>T (p.Arg2626Ter) | ClinVar dbSNP COSMIC |
| 8 | g.60862244C= | CA1788123297 | CHD7 | n.1055C= n.259C= c.*938C= (n.*938C=) c.7879C= (p.Arg2627=) c.1732C= (p.Arg578=) n.301C= n.1341C= c.7969C= (p.Arg2657=) c.7966C= (p.Arg2656=) c.7747C= (p.Arg2583=) c.5956C= (p.Arg1986=) c.5506C= (p.Arg1836=) c.4714C= (p.Arg1572=) c.7876C= (p.Arg2626=) | dbSNP |
| 8 | g.60862244C>G | CA371305320 | CHD7 | n.1055C>G n.259C>G c.*938C>G (n.*938C>G) c.7879C>G (p.Arg2627Gly) c.1732C>G (p.Arg578Gly) n.301C>G n.1341C>G c.7969C>G (p.Arg2657Gly) c.7966C>G (p.Arg2656Gly) c.7747C>G (p.Arg2583Gly) c.5956C>G (p.Arg1986Gly) c.5506C>G (p.Arg1836Gly) c.4714C>G (p.Arg1572Gly) c.7876C>G (p.Arg2626Gly) | dbSNP gnomAD v4 |