Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56879088G>T | CA8069399 | SLC12A3 | c.1196G>T (p.Arg399Leu) c.1193G>T (p.Arg398Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879088G>A | CA8069397 | SLC12A3 | c.1196G>A (p.Arg399His) c.1193G>A (p.Arg398His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879088G>C | CA8069398 | SLC12A3 | c.1196G>C (p.Arg399Pro) c.1193G>C (p.Arg398Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |