| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.634780G>A | CA10605764 | c.440G>A (p.Arg147His) | dbSNP | |
| Y | g.634780G>T | CA2467796122 | c.440G>T (p.Arg147Leu) | dbSNP | |
| X | g.634780G>A | CA325621250 | SHOX | c.440G>A (p.Arg147His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.634780G>T | CA412231496 | SHOX | c.440G>T (p.Arg147Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| Y | g.634780G>C | CA3064231018 | c.440G>C (p.Arg147Pro) | dbSNP | |
| Y | g.634780G= | CA2467796121 | c.440G= (p.Arg147=) | dbSNP |