| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.644634T>C | CA254927 | c.633+3547T>C (n.633+3547T>C) c.877T>C (p.Ter293Arg) | dbSNP | |
| X | g.644634T>C | CA254926 | SHOX | c.877T>C (p.Ter293Arg) c.633+3547T>C (n.633+3547T>C) | ClinVar dbSNP gnomAD v4 |
| Y | g.644634T= | CA2467806914 | c.633+3547T= (n.633+3547T=) c.877T= (p.Ter293=) | dbSNP |