| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.133775510C>G | CA354610356 | TF | c.1765C>G (p.Pro589Ala) c.496C>G n.2759C>G c.1633C>G (p.Pro545Ala) c.1384C>G (p.Pro462Ala) | dbSNP |
| 3 | g.133775510C>T | CA122563 | TF | c.1765C>T (p.Pro589Ser) c.496C>T n.2759C>T c.1633C>T (p.Pro545Ser) c.1384C>T (p.Pro462Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133775510C= | CA1403122726 | TF | c.1765C= (p.Pro589=) c.496C= n.2759C= c.1633C= (p.Pro545=) c.1384C= (p.Pro462=) | dbSNP |