| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.85894227C>A | CA255736 | CHM | c.1471G>T (p.Glu491Ter) n.127-31133G>T c.1408G>T (p.Glu470Ter) c.1027G>T (p.Glu343Ter) | ClinVar dbSNP |
| X | g.85894227C= | CA2442456222 | CHM | c.1471G= (p.Glu491=) n.127-31133G= c.1408G= (p.Glu470=) c.1027G= (p.Glu343=) | dbSNP |