| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51744510A>C | CA224050 | PKHD1 | c.10031T>G (p.Leu3344Ter) c.9902T>G (p.Leu3301Ter) c.9893T>G (p.Leu3298Ter) c.9389T>G (p.Leu3130Ter) c.9320T>G (p.Leu3107Ter) c.4106T>G (p.Leu1369Ter) c.9956T>G (p.Leu3319Ter) c.9836T>G (p.Leu3279Ter) c.9767T>G (p.Leu3256Ter) c.8171T>G (p.Leu2724Ter) n.10307T>G | ClinVar dbSNP gnomAD v4 |
| 6 | g.51744510A>G | CA3851261 | PKHD1 | c.10031T>C (p.Leu3344Ser) c.9902T>C (p.Leu3301Ser) c.9893T>C (p.Leu3298Ser) c.9389T>C (p.Leu3130Ser) c.9320T>C (p.Leu3107Ser) c.4106T>C (p.Leu1369Ser) c.9956T>C (p.Leu3319Ser) c.9836T>C (p.Leu3279Ser) c.9767T>C (p.Leu3256Ser) c.8171T>C (p.Leu2724Ser) n.10307T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |