| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.33018485T>G | CA2299432 | GLB1 | c.1310A>C (p.Asn437Thr) c.917A>C (p.Asn306Thr) c.1220A>C (p.Asn407Thr) n.409A>C n.347A>C n.562A>C c.1454A>C (p.Asn485Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.33018485T>A | CA201009 | GLB1 | c.1310A>T (p.Asn437Ile) c.917A>T (p.Asn306Ile) c.1220A>T (p.Asn407Ile) n.409A>T n.347A>T n.562A>T c.1454A>T (p.Asn485Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33018485T>C | CA2299431 | GLB1 | c.1310A>G (p.Asn437Ser) c.917A>G (p.Asn306Ser) c.1220A>G (p.Asn407Ser) n.409A>G n.347A>G n.562A>G c.1454A>G (p.Asn485Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33018485T= | CA1355986171 | GLB1 | c.1310A= (p.Asn437=) c.917A= (p.Asn306=) c.1220A= (p.Asn407=) n.409A= n.347A= n.562A= c.1454A= (p.Asn485=) | dbSNP |