| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.23665471G>A | CA16043468 | SOX5 | c.865C>T (p.Pro289Ser) c.760C>T (p.Pro254Ser) c.904C>T (p.Pro302Ser) c.874C>T (p.Pro292Ser) n.228C>T n.284C>T n.129C>T c.799C>T (p.Pro267Ser) c.907C>T (p.Pro303Ser) c.877C>T (p.Pro293Ser) c.868C>T (p.Pro290Ser) c.802C>T (p.Pro268Ser) c.70C>T (p.Pro24Ser) c.994C>T (p.Pro332Ser) c.991C>T (p.Pro331Ser) c.763C>T (p.Pro255Ser) | ClinVar dbSNP |
| 12 | g.23665471G>C | CA384318261 | SOX5 | c.865C>G (p.Pro289Ala) c.760C>G (p.Pro254Ala) c.904C>G (p.Pro302Ala) c.874C>G (p.Pro292Ala) n.228C>G n.284C>G n.129C>G c.799C>G (p.Pro267Ala) c.907C>G (p.Pro303Ala) c.877C>G (p.Pro293Ala) c.868C>G (p.Pro290Ala) c.802C>G (p.Pro268Ala) c.70C>G (p.Pro24Ala) c.994C>G (p.Pro332Ala) c.991C>G (p.Pro331Ala) c.763C>G (p.Pro255Ala) | dbSNP gnomAD v4 |
| 12 | g.23665471G= | CA2022135626 | SOX5 | c.865C= (p.Pro289=) c.760C= (p.Pro254=) c.904C= (p.Pro302=) c.874C= (p.Pro292=) n.228C= n.284C= n.129C= c.799C= (p.Pro267=) c.907C= (p.Pro303=) c.877C= (p.Pro293=) c.868C= (p.Pro290=) c.802C= (p.Pro268=) c.70C= (p.Pro24=) c.994C= (p.Pro332=) c.991C= (p.Pro331=) c.763C= (p.Pro255=) | dbSNP |