| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.634734C>G | CA254914 | c.394C>G (p.Leu132Val) | dbSNP | |
| X | g.634734C>G | CA254913 | SHOX | c.394C>G (p.Leu132Val) | ClinVar dbSNP |
| Y | g.634734C>A | CA3064221584 | c.394C>A (p.Leu132Ile) | dbSNP | |
| Y | g.634734C= | CA2467796069 | c.394C= (p.Leu132=) | dbSNP |