| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.124398076G>T | CA471762570 | OAT | c.1186C>A (p.Arg396=) n.696C>A c.772C>A (p.Arg258=) c.865C>A (p.Arg289=) c.586C>A (p.Arg196=) | ClinVar dbSNP |
| 10 | g.124398076G>A | CA113920 | OAT | c.1186C>T (p.Arg396Ter) n.696C>T c.772C>T (p.Arg258Ter) c.865C>T (p.Arg289Ter) c.586C>T (p.Arg196Ter) | ClinVar dbSNP gnomAD v4 |
| 10 | g.124398076G>C | CA215241728 | OAT | c.1186C>G (p.Arg396Gly) n.696C>G c.772C>G (p.Arg258Gly) c.865C>G (p.Arg289Gly) c.586C>G (p.Arg196Gly) | dbSNP gnomAD v2 gnomAD v4 |