| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.33742891C>T | CA16608739 | ASXL3 | c.3046C>T (p.Gln1016Ter) c.3043C>T (p.Gln1015Ter) c.*2167C>T (n.*2167C>T) c.*2702C>T (n.*2702C>T) c.3255C>T (n.3255C>T) c.2875C>T (p.Gln959Ter) c.2923C>T (p.Gln975Ter) c.3019C>T (p.Gln1007Ter) c.2965C>T (p.Gln989Ter) c.2926C>T (p.Gln976Ter) c.7C>T (p.Gln3Ter) | ClinVar dbSNP COSMIC COSMIC |
| 18 | g.33742891C>A | CA402184063 | ASXL3 | c.3046C>A (p.Gln1016Lys) c.3043C>A (p.Gln1015Lys) c.*2167C>A (n.*2167C>A) c.*2702C>A (n.*2702C>A) c.3255C>A (n.3255C>A) c.2875C>A (p.Gln959Lys) c.2923C>A (p.Gln975Lys) c.3019C>A (p.Gln1007Lys) c.2965C>A (p.Gln989Lys) c.2926C>A (p.Gln976Lys) c.7C>A (p.Gln3Lys) | dbSNP gnomAD v4 |
| 18 | g.33742891C= | CA2294857477 | ASXL3 | c.3046C= (p.Gln1016=) c.3043C= (p.Gln1015=) c.*2167C= (n.*2167C=) c.*2702C= (n.*2702C=) c.3255C= (n.3255C=) c.2875C= (p.Gln959=) c.2923C= (p.Gln975=) c.3019C= (p.Gln1007=) c.2965C= (p.Gln989=) c.2926C= (p.Gln976=) c.7C= (p.Gln3=) | dbSNP |