| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.51790529G>A | CA252725 | SALL4 | c.1954C>T (p.Gln652Ter) c.131-1388C>T (n.131-1388C>T) c.1150+804C>T (n.1150+804C>T) c.1648C>T (p.Gln550Ter) c.1828C>T (p.Gln610Ter) | ClinVar dbSNP |
| 20 | g.51790529G= | CA2369158026 | SALL4 | c.1954C= (p.Gln652=) c.131-1388C= (n.131-1388C=) c.1150+804C= (n.1150+804C=) c.1648C= (p.Gln550=) c.1828C= (p.Gln610=) | dbSNP |
| 20 | g.51790529G>C | CA409008460 | SALL4 | c.1954C>G (p.Gln652Glu) c.131-1388C>G (n.131-1388C>G) c.1150+804C>G (n.1150+804C>G) c.1648C>G (p.Gln550Glu) c.1828C>G (p.Gln610Glu) | dbSNP gnomAD v4 |