| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.17727793C>T | CA10358842 | NHS | n.4082C>T n.2644C>T c.3687C>T (p.Cys1229=) c.3624C>T (p.Cys1208=) c.3156C>T (p.Cys1052=) c.3147C>T (p.Cys1049=) c.3075C>T (p.Cys1025=) c.3093C>T (p.Cys1031=) c.2739C>T (p.Cys913=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.17727793C>A | CA250000 | NHS | n.4082C>A n.2644C>A c.3687C>A (p.Cys1229Ter) c.3624C>A (p.Cys1208Ter) c.3156C>A (p.Cys1052Ter) c.3147C>A (p.Cys1049Ter) c.3075C>A (p.Cys1025Ter) c.3093C>A (p.Cys1031Ter) c.2739C>A (p.Cys913Ter) | ClinVar dbSNP |