| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149028147G>A | CA3499152 | SH3TC2 | c.1481C>T c.1585C>T (p.Arg529Cys) c.*869C>T (n.*869C>T) c.*1095C>T (n.*1095C>T) c.*973C>T (n.*973C>T) c.1115C>T (n.1115C>T) c.635C>T c.*1365C>T (n.*1365C>T) c.1564C>T (p.Arg522Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149028147G= | CA1590312757 | SH3TC2 | c.1481C= c.1585C= (p.Arg529=) c.*869C= (n.*869C=) c.*1095C= (n.*1095C=) c.*973C= (n.*973C=) c.1115C= (n.1115C=) c.635C= c.*1365C= (n.*1365C=) c.1564C= (p.Arg522=) | dbSNP |