Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.22219049G>TCA412575744PHEX,PTCHD1-ASc.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
Xg.22219049G>ACA16621331PHEX,PTCHD1-ASc.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

Number of alleles fetched