| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177211355del | CA294837 | NSD1 | c.2083del (p.Ala695HisfsTer?) n.612+7063del n.2539del c.2647del (p.Ala883HisfsTer?) n.2353del c.2956del (p.Ala986HisfsTer?) n.3103del c.2149del (p.Ala717HisfsTer?) c.2536del (p.Ala846HisfsTer?) c.1900del (p.Ala634HisfsTer?) c.-1040del (n.-1040del) | ClinVar dbSNP |
| 5 | g.177211355G= | CA3123573873 | NSD1 | c.2083G= (p.Ala695=) n.612+7063G= n.2539G= c.2647G= (p.Ala883=) n.2353G= c.2956G= (p.Ala986=) n.3103G= c.2149G= (p.Ala717=) c.2536G= (p.Ala846=) c.1900G= (p.Ala634=) c.-1040G= (n.-1040G=) | dbSNP dbSNP |