| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.148829818G>A | CA259762 | EZH2 | n.542C>T c.277C>T (p.Pro93Ser) n.409C>T c.67C>T (p.Pro23Ser) c.394C>T (p.Pro132Ser) c.367C>T (p.Pro123Ser) c.*138C>T (n.*138C>T) n.525C>T c.418C>T (p.Pro140Ser) c.391C>T (p.Pro131Ser) c.370C>T (p.Pro124Ser) c.328C>T (p.Pro110Ser) c.301C>T (p.Pro101Ser) c.295C>T (p.Pro99Ser) c.274C>T (p.Pro92Ser) c.250C>T (p.Pro84Ser) n.3033C>T n.3031C>T | ClinVar dbSNP COSMIC COSMIC |
| 7 | g.148829818G>C | CA369721817 | EZH2 | n.542C>G c.277C>G (p.Pro93Ala) n.409C>G c.67C>G (p.Pro23Ala) c.394C>G (p.Pro132Ala) c.367C>G (p.Pro123Ala) c.*138C>G (n.*138C>G) n.525C>G c.418C>G (p.Pro140Ala) c.391C>G (p.Pro131Ala) c.370C>G (p.Pro124Ala) c.328C>G (p.Pro110Ala) c.301C>G (p.Pro101Ala) c.295C>G (p.Pro99Ala) c.274C>G (p.Pro92Ala) c.250C>G (p.Pro84Ala) n.3033C>G n.3031C>G | dbSNP |
| 7 | g.148829818G= | CA1751440377 | EZH2 | n.542C= c.277C= (p.Pro93=) n.409C= c.67C= (p.Pro23=) c.394C= (p.Pro132=) c.367C= (p.Pro123=) c.*138C= (n.*138C=) n.525C= c.418C= (p.Pro140=) c.391C= (p.Pro131=) c.370C= (p.Pro124=) c.328C= (p.Pro110=) c.301C= (p.Pro101=) c.295C= (p.Pro99=) c.274C= (p.Pro92=) c.250C= (p.Pro84=) n.3033C= n.3031C= | dbSNP |
| 7 | g.148829818G>T | CA369721814 | EZH2 | n.542C>A c.277C>A (p.Pro93Thr) n.409C>A c.67C>A (p.Pro23Thr) c.394C>A (p.Pro132Thr) c.367C>A (p.Pro123Thr) c.*138C>A (n.*138C>A) n.525C>A c.418C>A (p.Pro140Thr) c.391C>A (p.Pro131Thr) c.370C>A (p.Pro124Thr) c.328C>A (p.Pro110Thr) c.301C>A (p.Pro101Thr) c.295C>A (p.Pro99Thr) c.274C>A (p.Pro92Thr) c.250C>A (p.Pro84Thr) n.3033C>A n.3031C>A | ClinVar dbSNP gnomAD v4 |