| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149027760G>T | CA361667348 | SH3TC2 | c.1868C>A c.1972C>A (p.Arg658Ser) c.*1256C>A (n.*1256C>A) c.*1482C>A (n.*1482C>A) c.*1360C>A (n.*1360C>A) c.1502C>A (n.1502C>A) c.1022C>A c.*1752C>A (n.*1752C>A) c.1951C>A (p.Arg651Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149027760G>A | CA342372 | SH3TC2 | c.1868C>T c.1972C>T (p.Arg658Cys) c.*1256C>T (n.*1256C>T) c.*1482C>T (n.*1482C>T) c.*1360C>T (n.*1360C>T) c.1502C>T (n.1502C>T) c.1022C>T c.*1752C>T (n.*1752C>T) c.1951C>T (p.Arg651Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149027760G= | CA1590312595 | SH3TC2 | c.1868C= c.1972C= (p.Arg658=) c.*1256C= (n.*1256C=) c.*1482C= (n.*1482C=) c.*1360C= (n.*1360C=) c.1502C= (n.1502C=) c.1022C= c.*1752C= (n.*1752C=) c.1951C= (p.Arg651=) | dbSNP |