| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.13492506G>A | CA123438 | PTH | c.247C>T (p.Arg83Ter) c.343C>T (p.Arg115Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.13492506G>T | CA5893169 | PTH | c.247C>A (p.Arg83=) c.343C>A (p.Arg115=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492506G= | CA1953324135 | PTH | c.247C= (p.Arg83=) c.343C= (p.Arg115=) | dbSNP |