Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51867900C>ACA16041041PKHD1c.7696G>T (p.Gly2566Ter)
c.7054G>T (p.Gly2352Ter)
c.6985G>T (p.Gly2329Ter)
c.1771G>T (p.Gly591Ter)
c.7621G>T (p.Gly2541Ter)
c.7432G>T (p.Gly2478Ter)
c.5836G>T (p.Gly1946Ter)
n.7972G>T
ClinVar dbSNP COSMIC COSMIC
6g.51867900C>TCA364418242PKHD1c.7696G>A (p.Gly2566Arg)
c.7054G>A (p.Gly2352Arg)
c.6985G>A (p.Gly2329Arg)
c.1771G>A (p.Gly591Arg)
c.7621G>A (p.Gly2541Arg)
c.7432G>A (p.Gly2478Arg)
c.5836G>A (p.Gly1946Arg)
n.7972G>A
dbSNP COSMIC COSMIC

Number of alleles fetched