Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.22212957C>ACA10368321PHEX,PTCHD1-ASc.1699C>A (p.Arg567=)
c.943C>A (p.Arg315=)
c.592C>A (p.Arg198=)
n.1049-10187G>T
c.1408C>A (p.Arg470=)
n.2539C>A
dbSNP ExAC gnomAD
Xg.22212957C>TCA255561PHEX,PTCHD1-ASc.1699C>T (p.Arg567Ter)
c.943C>T (p.Arg315Ter)
c.592C>T (p.Arg198Ter)
n.1049-10187G>A
c.1408C>T (p.Arg470Ter)
n.2539C>T
ClinVar dbSNP

Number of alleles fetched