| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.43424324C>G | CA808676 | SZT2 | c.2363C>G (p.Ser788Ter) n.1094C>G c.2426C>G (p.Ser809Ter) c.2480C>G (p.Ser827Ter) c.2309C>G (p.Ser770Ter) c.2306C>G (p.Ser769Ter) c.1907C>G (p.Ser636Ter) c.2255C>G (p.Ser752Ter) c.1055C>G (p.Ser352Ter) n.2509C>G n.2511C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43424324C= | CA1165612479 | SZT2 | c.2363C= (p.Ser788=) n.1094C= c.2426C= (p.Ser809=) c.2480C= (p.Ser827=) c.2309C= (p.Ser770=) c.2306C= (p.Ser769=) c.1907C= (p.Ser636=) c.2255C= (p.Ser752=) c.1055C= (p.Ser352=) n.2509C= n.2511C= | dbSNP |