Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.51867900C>A | CA16041041 | PKHD1 | c.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 |
6 | g.51867900C>T | CA364418242 | PKHD1 | c.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 |