Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.52071009T>CCA3853831PKHD1c.664A>G (p.Ile222Val)
c.-61A>G (p.=)
n.395T>C
c.589A>G (p.Ile197Val)
n.940A>G
ClinVar dbSNP ExAC gnomAD
6g.52071009T>GCA138924757PKHD1c.664A>C (p.Ile222Leu)
c.-61A>C (p.=)
n.395T>G
c.589A>C (p.Ile197Leu)
n.940A>C
dbSNP

Number of alleles fetched