| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.23818252T>C | CA13758272 | SOX5 | c.442+27731A>G (n.442+27731A>G) c.337+27731A>G (n.337+27731A>G) c.481+27731A>G (n.481+27731A>G) c.451+27731A>G (n.451+27731A>G) c.376+27731A>G (n.376+27731A>G) c.568+27731A>G (n.568+27731A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.23818252T= | CA2022236281 | SOX5 | c.442+27731A= (n.442+27731A=) c.337+27731A= (n.337+27731A=) c.481+27731A= (n.481+27731A=) c.451+27731A= (n.451+27731A=) c.376+27731A= (n.376+27731A=) c.568+27731A= (n.568+27731A=) | dbSNP |