| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149028348C>A | CA3499187 | SH3TC2 | c.1395+9G>T c.1384G>T (p.Glu462Ter) c.*668G>T (n.*668G>T) c.*894G>T (n.*894G>T) c.*772G>T (n.*772G>T) c.914G>T (n.914G>T) c.434G>T c.*1164G>T (n.*1164G>T) c.1363G>T (p.Glu455Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149028348C= | CA1590312851 | SH3TC2 | c.1395+9G= c.1384G= (p.Glu462=) c.*668G= (n.*668G=) c.*894G= (n.*894G=) c.*772G= (n.*772G=) c.914G= (n.914G=) c.434G= c.*1164G= (n.*1164G=) c.1363G= (p.Glu455=) | dbSNP |