| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.115415015G>A | CA117618 | TRPS1 | c.2893C>T (p.Arg965Cys) c.2854C>T (p.Arg952Cys) c.227C>T c.2116C>T (p.Arg706Cys) c.2866C>T (p.Arg956Cys) c.2872C>T (p.Arg958Cys) | ClinVar dbSNP gnomAD v2 COSMIC COSMIC |
| 8 | g.115415015G= | CA1812854632 | TRPS1 | c.2893C= (p.Arg965=) c.2854C= (p.Arg952=) c.227C= c.2116C= (p.Arg706=) c.2866C= (p.Arg956=) c.2872C= (p.Arg958=) | dbSNP |