| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.20155435C>T | CA255962 | RPS6KA3 | c.2186G>A (p.Arg729Gln) c.2099G>A (p.Arg700Gln) c.2102G>A (p.Arg701Gln) c.1804G>A (n.1804G>A) c.*1407G>A (n.*1407G>A) c.2183G>A (p.Arg728Gln) c.2096G>A (p.Arg699Gln) c.2204G>A (p.Arg735Gln) c.2201G>A (p.Arg734Gln) c.2120G>A (p.Arg707Gln) c.2117G>A (p.Arg706Gln) | ClinVar dbSNP |
| X | g.20155435C= | CA2418502959 | RPS6KA3 | c.2186G= (p.Arg729=) c.2099G= (p.Arg700=) c.2102G= (p.Arg701=) c.1804G= (n.1804G=) c.*1407G= (n.*1407G=) c.2183G= (p.Arg728=) c.2096G= (p.Arg699=) c.2204G= (p.Arg735=) c.2201G= (p.Arg734=) c.2120G= (p.Arg707=) c.2117G= (p.Arg706=) | dbSNP |