| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.33018510G>A | CA351471 | GLB1 | c.1285C>T (p.Pro429Ser) c.892C>T (p.Pro298Ser) c.1195C>T (p.Pro399Ser) n.384C>T n.322C>T n.537C>T c.1429C>T (p.Pro477Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.33018510G>C | CA351992343 | GLB1 | c.1285C>G (p.Pro429Ala) c.892C>G (p.Pro298Ala) c.1195C>G (p.Pro399Ala) n.384C>G n.322C>G n.537C>G c.1429C>G (p.Pro477Ala) | dbSNP |
| 3 | g.33018510G= | CA1355986186 | GLB1 | c.1285C= (p.Pro429=) c.892C= (p.Pro298=) c.1195C= (p.Pro399=) n.384C= n.322C= n.537C= c.1429C= (p.Pro477=) | dbSNP |