| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52055593A>G | CA450419955 | PKHD1 | c.1830T>C (p.Tyr610=) c.1119T>C (p.Tyr373=) c.1755T>C (p.Tyr585=) c.-59T>C (n.-59T>C) n.2106T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52055593A>T | CA274378 | PKHD1 | c.1830T>A (p.Tyr610Ter) c.1119T>A (p.Tyr373Ter) c.1755T>A (p.Tyr585Ter) c.-59T>A (n.-59T>A) n.2106T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.52055593A= | CA1628598084 | PKHD1 | c.1830T= (p.Tyr610=) c.1119T= (p.Tyr373=) c.1755T= (p.Tyr585=) c.-59T= (n.-59T=) n.2106T= | dbSNP |