| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51903601A>T | CA273991 | PKHD1 | c.6992T>A (p.Ile2331Lys) c.6350T>A (p.Ile2117Lys) c.6281T>A (p.Ile2094Lys) c.1067T>A (p.Ile356Lys) c.6917T>A (p.Ile2306Lys) c.6728T>A (p.Ile2243Lys) c.5132T>A (p.Ile1711Lys) n.7268T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51903601A>G | CA3852107 | PKHD1 | c.6992T>C (p.Ile2331Thr) c.6350T>C (p.Ile2117Thr) c.6281T>C (p.Ile2094Thr) c.1067T>C (p.Ile356Thr) c.6917T>C (p.Ile2306Thr) c.6728T>C (p.Ile2243Thr) c.5132T>C (p.Ile1711Thr) n.7268T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |