| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.46902768T>A | CA352503277 | PTH1R | c.1373T>A (p.Ile458Lys) c.89T>A (p.Ile30Lys) c.*310T>A (n.*310T>A) c.1280T>A (p.Ile427Lys) c.1412T>A (p.Ile471Lys) c.1394T>A (p.Ile465Lys) c.1408T>A (p.Tyr470Asn) | ClinVar dbSNP |
| 3 | g.46902768T>G | CA123426 | PTH1R | c.1373T>G (p.Ile458Arg) c.89T>G (p.Ile30Arg) c.*310T>G (n.*310T>G) c.1280T>G (p.Ile427Arg) c.1412T>G (p.Ile471Arg) c.1394T>G (p.Ile465Arg) c.1408T>G (p.Tyr470Asp) | ClinVar dbSNP |
| 3 | g.46902768T>C | CA352503278 | PTH1R | c.1373T>C (p.Ile458Thr) c.89T>C (p.Ile30Thr) c.*310T>C (n.*310T>C) c.1280T>C (p.Ile427Thr) c.1412T>C (p.Ile471Thr) c.1394T>C (p.Ile465Thr) c.1408T>C (p.Tyr470His) | dbSNP gnomAD v4 |