| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.85956300G>T | CA16043335 | CHM | c.1019C>A (p.Ser340Ter) n.126+71191C>A c.956C>A (p.Ser319Ter) c.575C>A (p.Ser192Ter) | ClinVar dbSNP COSMIC |
| X | g.85956300G= | CA2442478044 | CHM | c.1019C= (p.Ser340=) n.126+71191C= c.956C= (p.Ser319=) c.575C= (p.Ser192=) | dbSNP |