| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.640851C>T | CA254920 | c.517C>T (p.Arg173Cys) | dbSNP | |
| X | g.640851C>T | CA254919 | SHOX | c.517C>T (p.Arg173Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| Y | g.640851C= | CA2467802561 | c.517C= (p.Arg173=) | dbSNP | |
| Y | g.640851C>A | CA3064221585 | c.517C>A (p.Arg173Ser) | dbSNP | |
| Y | g.640851C>G | CA3064221586 | c.517C>G (p.Arg173Gly) | dbSNP |