| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177238279C>G | CA362339720 | NSD1 | c.3091C>G (p.Arg1031Gly) n.780C>G n.3547C>G c.3655C>G (p.Arg1219Gly) n.3361C>G c.3922-1477C>G (n.3922-1477C>G) n.4111C>G c.3964C>G (p.Arg1322Gly) c.3157C>G (p.Arg1053Gly) c.333-1477C>G (n.333-1477C>G) c.3544C>G (p.Arg1182Gly) c.2908C>G (p.Arg970Gly) c.-74-1477C>G (n.-74-1477C>G) | dbSNP |
| 5 | g.177238279C>T | CA294857 | NSD1 | c.3091C>T (p.Arg1031Ter) n.780C>T n.3547C>T c.3655C>T (p.Arg1219Ter) n.3361C>T c.3922-1477C>T (n.3922-1477C>T) n.4111C>T c.3964C>T (p.Arg1322Ter) c.3157C>T (p.Arg1053Ter) c.333-1477C>T (n.333-1477C>T) c.3544C>T (p.Arg1182Ter) c.2908C>T (p.Arg970Ter) c.-74-1477C>T (n.-74-1477C>T) | ClinVar dbSNP |
| 5 | g.177238279C>A | CA447724771 | NSD1 | c.3091C>A (p.Arg1031=) n.780C>A n.3547C>A c.3655C>A (p.Arg1219=) n.3361C>A c.3922-1477C>A (n.3922-1477C>A) n.4111C>A c.3964C>A (p.Arg1322=) c.3157C>A (p.Arg1053=) c.333-1477C>A (n.333-1477C>A) c.3544C>A (p.Arg1182=) c.2908C>A (p.Arg970=) c.-74-1477C>A (n.-74-1477C>A) | dbSNP gnomAD v4 |