| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.34254503G>A | CA173455 | SLC12A6 | c.963C>T (p.Tyr321=) n.1745C>T c.810C>T (p.Tyr270=) c.786C>T (p.Tyr262=) c.918C>T (p.Tyr306=) c.936C>T (p.Tyr312=) c.399C>T (p.Tyr133=) c.816C>T (p.Tyr272=) n.969C>T n.2213C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.34254503G>T | CA16041723 | SLC12A6 | c.963C>A (p.Tyr321Ter) n.1745C>A c.810C>A (p.Tyr270Ter) c.786C>A (p.Tyr262Ter) c.918C>A (p.Tyr306Ter) c.936C>A (p.Tyr312Ter) c.399C>A (p.Tyr133Ter) c.816C>A (p.Tyr272Ter) n.969C>A n.2213C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |