Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51137264C>G | CA395877885 | SALL1 | c.3823G>C (p.Val1275Leu) c.3532G>C (p.Val1178Leu) c.365G>C (n.365G>C) | dbSNP |
16 | g.51137264C>T | CA8052821 | SALL1 | c.3823G>A (p.Val1275Ile) c.3532G>A (p.Val1178Ile) c.365G>A (n.365G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |