| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149027244C>A | CA10584269 | SH3TC2 | c.2384G>T c.2488G>T (p.Glu830Ter) c.*1772G>T (n.*1772G>T) c.*1998G>T (n.*1998G>T) c.*1876G>T (n.*1876G>T) c.2018G>T (n.2018G>T) c.1538G>T c.*2268G>T (n.*2268G>T) c.2467G>T (p.Glu823Ter) | ClinVar dbSNP |
| 5 | g.149027244C= | CA1590312357 | SH3TC2 | c.2384G= c.2488G= (p.Glu830=) c.*1772G= (n.*1772G=) c.*1998G= (n.*1998G=) c.*1876G= (n.*1876G=) c.2018G= (n.2018G=) c.1538G= c.*2268G= (n.*2268G=) c.2467G= (p.Glu823=) | dbSNP |