| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.624523C>A | CA213117 | c.-512C>A (n.-512C>A) | ClinVar dbSNP | |
| Y | g.624523C>T | CA2467782736 | c.-512C>T (n.-512C>T) | dbSNP | |
| X | g.624523C>A | CA213116 | SHOX | c.-512C>A (n.-512C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.624523C>T | CA325616532 | SHOX | c.-512C>T (n.-512C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |