| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56894594G>C | CA395997540 | SLC12A3 | c.2585G>C (p.Arg862Pro) c.2582G>C (p.Arg861Pro) c.2612G>C (p.Arg871Pro) c.2609G>C (p.Arg870Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56894594G>T | CA395997539 | SLC12A3 | c.2585G>T (p.Arg862Leu) c.2582G>T (p.Arg861Leu) c.2612G>T (p.Arg871Leu) c.2609G>T (p.Arg870Leu) | dbSNP |
| 16 | g.56894594G>A | CA032037 | SLC12A3 | c.2585G>A (p.Arg862His) c.2582G>A (p.Arg861His) c.2612G>A (p.Arg871His) c.2609G>A (p.Arg870His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56894594G= | CA2224361240 | SLC12A3 | c.2585G= (p.Arg862=) c.2582G= (p.Arg861=) c.2612G= (p.Arg871=) c.2609G= (p.Arg870=) | dbSNP |