| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.64049234A>T | CA119195 | SOX18,TCEA2 | c.283T>A (p.Trp95Arg) c.-2320+6839A>T (n.-2320+6839A>T) c.-2236+6839A>T (n.-2236+6839A>T) | ClinVar dbSNP |
| 20 | g.64049234A= | CA2375128621 | SOX18,TCEA2 | c.283T= (p.Trp95=) c.-2320+6839A= (n.-2320+6839A=) c.-2236+6839A= (n.-2236+6839A=) | dbSNP |