| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.69599802C>A | CA16605888 | AUTS2 | c.149C>A (p.Ser50Ter) | ClinVar dbSNP |
| 7 | g.69599802C>T | CA367702947 | AUTS2 | c.149C>T (p.Ser50Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.69599802C>G | CA4280241 | AUTS2 | c.149C>G (p.Ser50Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.69599802C= | CA1715634450 | AUTS2 | c.149C= (p.Ser50=) | dbSNP |