| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56872737C>T | CA119776 | SLC12A3 | c.1046C>T (p.Pro349Leu) c.1043C>T (p.Pro348Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56872737C>A | CA395983844 | SLC12A3 | c.1046C>A (p.Pro349His) c.1043C>A (p.Pro348His) | dbSNP |
| 16 | g.56872737C= | CA2224350559 | SLC12A3 | c.1046C= (p.Pro349=) c.1043C= (p.Pro348=) | dbSNP |