| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51747897C>T | CA138895870 | PKHD1 | c.9719G>A (p.Arg3240Gln) c.9590G>A (p.Arg3197Gln) c.9581G>A (p.Arg3194Gln) c.9077G>A (p.Arg3026Gln) c.9008G>A (p.Arg3003Gln) c.3794G>A (p.Arg1265Gln) c.9644G>A (p.Arg3215Gln) c.9524G>A (p.Arg3175Gln) c.9455G>A (p.Arg3152Gln) c.7859G>A (p.Arg2620Gln) n.9995G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.51747897C>A | CA234565 | PKHD1 | c.9719G>T (p.Arg3240Leu) c.9590G>T (p.Arg3197Leu) c.9581G>T (p.Arg3194Leu) c.9077G>T (p.Arg3026Leu) c.9008G>T (p.Arg3003Leu) c.3794G>T (p.Arg1265Leu) c.9644G>T (p.Arg3215Leu) c.9524G>T (p.Arg3175Leu) c.9455G>T (p.Arg3152Leu) c.7859G>T (p.Arg2620Leu) n.9995G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |