| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.7063916G>C | CA10572041 | TBL1Y | c.224G>C (p.Ser75Thr) c.266G>C (p.Ser89Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.7063916G>T | CA10572040 | TBL1Y | c.224G>T (p.Ser75Ile) c.266G>T (p.Ser89Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.7063916G= | CA2469913817 | TBL1Y | c.224G= (p.Ser75=) c.266G= (p.Ser89=) | dbSNP |