| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.51790634G>A | CA252731 | SALL4 | c.1849C>T (p.Arg617Ter) c.131-1493C>T (n.131-1493C>T) c.1150+699C>T (n.1150+699C>T) c.1543C>T (p.Arg515Ter) c.1723C>T (p.Arg575Ter) | ClinVar dbSNP gnomAD v4 |
| 20 | g.51790634G= | CA2369158067 | SALL4 | c.1849C= (p.Arg617=) c.131-1493C= (n.131-1493C=) c.1150+699C= (n.1150+699C=) c.1543C= (p.Arg515=) c.1723C= (p.Arg575=) | dbSNP |