16 | g.51141747T>C | CA8053468 | SALL1 | c.475A>G (p.Ser159Gly) c.184A>G (p.Ser62Gly) c.77-4195A>G (n.77-4195A>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141747T= | CA2222022972 | SALL1 | c.475A= (p.Ser159=) c.184A= (p.Ser62=) c.77-4195A= (n.77-4195A=)
| dbSNP |