Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.124397986G>A | CA114002 | OAT | c.1276C>T (p.Arg426Ter) c.862C>T (p.Arg288Ter) c.955C>T (p.Arg319Ter) c.676C>T (p.Arg226Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.124397986G>T | CA471762505 | OAT | c.1276C>A (p.Arg426=) c.862C>A (p.Arg288=) c.955C>A (p.Arg319=) c.676C>A (p.Arg226=) | ClinVar dbSNP |
10 | g.124397986G= | CA1942335649 | OAT | c.1276C= (p.Arg426=) c.862C= (p.Arg288=) c.955C= (p.Arg319=) c.676C= (p.Arg226=) | dbSNP |