| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122257308C>T | CA119501 | CASR | c.413C>T (p.Thr138Met) n.332C>T n.272C>T c.9+2934C>T (n.9+2934C>T) | ClinVar dbSNP |
| 3 | g.122257308C>G | CA354362852 | CASR | c.413C>G (p.Thr138Arg) n.332C>G n.272C>G c.9+2934C>G (n.9+2934C>G) | ClinVar dbSNP |
| 3 | g.122257308C= | CA1397871015 | CASR | c.413C= (p.Thr138=) n.332C= n.272C= c.9+2934C= (n.9+2934C=) | dbSNP |