| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.51789112G>A | CA16609047 | SALL4 | c.2491C>T (p.Arg831Ter) c.160C>T (p.Arg54Ter) c.1180C>T (p.Arg394Ter) c.2185C>T (p.Arg729Ter) c.2365C>T (p.Arg789Ter) | ClinVar dbSNP |
| 20 | g.51789112G= | CA2369157412 | SALL4 | c.2491C= (p.Arg831=) c.160C= (p.Arg54=) c.1180C= (p.Arg394=) c.2185C= (p.Arg729=) c.2365C= (p.Arg789=) | dbSNP |