| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.100806519C>A | CA378259037 | PAX2 | c.799C>A (p.Gln267Lys) c.775C>A (p.Gln259Lys) c.706C>A (p.Gln236Lys) c.688C>A (p.Gln230Lys) c.703C>A (p.Gln235Lys) n.427C>A c.694C>A (p.Gln232Lys) n.421C>A | ClinVar dbSNP |
| 10 | g.100806519C>T | CA233171 | PAX2 | c.799C>T (p.Gln267Ter) c.775C>T (p.Gln259Ter) c.706C>T (p.Gln236Ter) c.688C>T (p.Gln230Ter) c.703C>T (p.Gln235Ter) n.427C>T c.694C>T (p.Gln232Ter) n.421C>T | ClinVar dbSNP |
| 10 | g.100806519C= | CA1931920631 | PAX2 | c.799C= (p.Gln267=) c.775C= (p.Gln259=) c.706C= (p.Gln236=) c.688C= (p.Gln230=) c.703C= (p.Gln235=) n.427C= c.694C= (p.Gln232=) n.421C= | dbSNP |