| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.641037C>T | CA213425 | c.583C>T (p.Arg195Ter) | dbSNP | |
| Y | g.641037C>A | CA2467802732 | c.583C>A (p.Arg195=) | dbSNP | |
| X | g.641037C>A | CA10330067 | SHOX | c.583C>A (p.Arg195=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.641037C>T | CA213424 | SHOX | c.583C>T (p.Arg195Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |