| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.13492804A>G | CA123436 | PTH | c.52T>C (p.Cys18Arg) c.148T>C (p.Cys50Arg) | ClinVar dbSNP |
| 11 | g.13492804A>C | CA379724961 | PTH | c.52T>G (p.Cys18Gly) c.148T>G (p.Cys50Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.13492804A= | CA1953324777 | PTH | c.52T= (p.Cys18=) c.148T= (p.Cys50=) | dbSNP |