| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56879168A>T | CA16609823 | SLC12A3 | c.1276A>T (p.Asn426Tyr) c.1273A>T (p.Asn425Tyr) | ClinVar dbSNP |
| 16 | g.56879168A>C | CA395986030 | SLC12A3 | c.1276A>C (p.Asn426His) c.1273A>C (p.Asn425His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879168A>G | CA8069410 | SLC12A3 | c.1276A>G (p.Asn426Asp) c.1273A>G (p.Asn425Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |