| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52028349C>T | CA274186 | PKHD1 | c.3367G>A (p.Gly1123Ser) c.2656G>A (p.Gly886Ser) c.3292G>A (p.Gly1098Ser) c.3365-2168G>A (n.3365-2168G>A) c.1507G>A (p.Gly503Ser) n.3643G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.52028349C>A | CA364440890 | PKHD1 | c.3367G>T (p.Gly1123Cys) c.2656G>T (p.Gly886Cys) c.3292G>T (p.Gly1098Cys) c.3365-2168G>T (n.3365-2168G>T) c.1507G>T (p.Gly503Cys) n.3643G>T | dbSNP gnomAD v4 |
| 6 | g.52028349C= | CA1628600772 | PKHD1 | c.3367G= (p.Gly1123=) c.2656G= (p.Gly886=) c.3292G= (p.Gly1098=) c.3365-2168G= (n.3365-2168G=) c.1507G= (p.Gly503=) n.3643G= | dbSNP |