| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.46901797G>T | CA352502494 | PTH1R | c.1148G>T (p.Arg383Leu) c.*85G>T (n.*85G>T) c.1055G>T (p.Arg352Leu) c.1187G>T (p.Arg396Leu) c.1169G>T (p.Arg390Leu) | dbSNP gnomAD v4 |
| 3 | g.46901797G>A | CA123423 | PTH1R | c.1148G>A (p.Arg383Gln) c.*85G>A (n.*85G>A) c.1055G>A (p.Arg352Gln) c.1187G>A (p.Arg396Gln) c.1169G>A (p.Arg390Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.46901797G= | CA1362316843 | PTH1R | c.1148G= (p.Arg383=) c.*85G= (n.*85G=) c.1055G= (p.Arg352=) c.1187G= (p.Arg396=) c.1169G= (p.Arg390=) | dbSNP |