| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.46897936C>T | CA123425 | PTH1R | c.395C>T (p.Pro132Leu) n.415C>T c.302C>T (p.Pro101Leu) c.434C>T (p.Pro145Leu) c.416C>T (p.Pro139Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.46897936C>G | CA352494464 | PTH1R | c.395C>G (p.Pro132Arg) n.415C>G c.302C>G (p.Pro101Arg) c.434C>G (p.Pro145Arg) c.416C>G (p.Pro139Arg) | ClinVar dbSNP |
| 3 | g.46897936C= | CA1362309760 | PTH1R | c.395C= (p.Pro132=) n.415C= c.302C= (p.Pro101=) c.434C= (p.Pro145=) c.416C= (p.Pro139=) | dbSNP |