Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.22219049G>T | CA412575744 | PHEX,PTCHD1-AS | c.268G>T (p.Gly90Cys) n.498G>T n.1388G>T c.1714G>T (p.Gly572Cys) c.958G>T (p.Gly320Cys) c.607G>T (p.Gly203Cys) n.1048+8421C>A c.1423G>T (p.Gly475Cys) n.2554G>T | ClinVar dbSNP |
X | g.22219049G>A | CA16621331 | PHEX,PTCHD1-AS | c.268G>A (p.Gly90Ser) n.498G>A n.1388G>A c.1714G>A (p.Gly572Ser) c.958G>A (p.Gly320Ser) c.607G>A (p.Gly203Ser) n.1048+8421C>T c.1423G>A (p.Gly475Ser) n.2554G>A | ClinVar dbSNP |