| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.53507001T>A | CA116535 | GCLC | c.995A>T (p.His332Leu) c.950A>T (p.His317Leu) c.1115A>T (p.His372Leu) c.1109A>T (p.His370Leu) n.78A>T n.1554A>T c.398A>T (p.His133Leu) | ClinVar dbSNP gnomAD v4 |
| 6 | g.53507001T>C | CA364471817 | GCLC | c.995A>G (p.His332Arg) c.950A>G (p.His317Arg) c.1115A>G (p.His372Arg) c.1109A>G (p.His370Arg) n.78A>G n.1554A>G c.398A>G (p.His133Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |