| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56894558T>C | CA250046 | SLC12A3 | c.2549T>C (p.Leu850Pro) c.2546T>C (p.Leu849Pro) c.2576T>C (p.Leu859Pro) c.2573T>C (p.Leu858Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56894558T= | CA2224361221 | SLC12A3 | c.2549T= (p.Leu850=) c.2546T= (p.Leu849=) c.2576T= (p.Leu859=) c.2573T= (p.Leu858=) | dbSNP |