| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67490803A>C | CA381554377 | AIP | c.1110A>C c.614A>C (p.Tyr205Ser) n.1645A>C c.469-194A>C (n.469-194A>C) c.434A>C (p.Tyr145Ser) c.803A>C (p.Tyr268Ser) c.795A>C (p.Leu265=) c.626A>C (p.Tyr209Ser) c.792A>C (p.Leu264=) c.623A>C (p.Tyr208Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490803A>G | CA344187 | AIP | c.1110A>G c.614A>G (p.Tyr205Cys) n.1645A>G c.469-194A>G (n.469-194A>G) c.434A>G (p.Tyr145Cys) c.803A>G (p.Tyr268Cys) c.795A>G (p.Leu265=) c.626A>G (p.Tyr209Cys) c.792A>G (p.Leu264=) c.623A>G (p.Tyr208Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |