| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.4564432G>A | CA4968968 | SLC1A1,SPATA6L | c.414G>A (p.Thr138=) c.*782-10044C>T (n.*782-10044C>T) n.458G>A c.483G>A (p.Thr161=) c.423G>A (p.Thr141=) c.354G>A (p.Thr118=) c.273G>A (p.Thr91=) c.*2-23242C>T (n.*2-23242C>T) n.1479-23242C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.4564432G= | CA1630847784 | SLC1A1,SPATA6L | c.414G= (p.Thr138=) c.*782-10044C= (n.*782-10044C=) n.458G= c.483G= (p.Thr161=) c.423G= (p.Thr141=) c.354G= (p.Thr118=) c.273G= (p.Thr91=) c.*2-23242C= (n.*2-23242C=) n.1479-23242C= | dbSNP |