| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.52028899G>C | CA119849 | SGCB | c.452C>G (p.Thr151Arg) c.535C>G c.529C>G (n.529C>G) c.155C>G (p.Thr52Arg) c.242C>G (p.Thr81Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.52028899G>A | CA356877058 | SGCB | c.452C>T (p.Thr151Ile) c.535C>T c.529C>T (n.529C>T) c.155C>T (p.Thr52Ile) c.242C>T (p.Thr81Ile) | dbSNP gnomAD v4 |
| 4 | g.52028899G= | CA1457429594 | SGCB | c.452C= (p.Thr151=) c.535C= c.529C= (n.529C=) c.155C= (p.Thr52=) c.242C= (p.Thr81=) | dbSNP |