| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.641051C>T | CA2467802748 | c.597C>T (p.Tyr199=) | dbSNP | |
| Y | g.641051C>G | CA254910 | c.597C>G (p.Tyr199Ter) | dbSNP | |
| X | g.641051C>G | CA254909 | SHOX | c.597C>G (p.Tyr199Ter) | ClinVar dbSNP |
| X | g.641051C>T | CA10330070 | SHOX | c.597C>T (p.Tyr199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.641051C= | CA2467802747 | c.597C= (p.Tyr199=) | dbSNP |