| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.640862G>T | CA658659084 | c.528G>T (p.Glu176Asp) | dbSNP | |
| Y | g.640862G>C | CA10588843 | c.528G>C (p.Glu176Asp) | dbSNP | |
| X | g.640862G>C | CA325623412 | SHOX | c.528G>C (p.Glu176Asp) | ClinVar dbSNP |
| X | g.640862G>T | CA10330024 | SHOX | c.528G>T (p.Glu176Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |