| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149012634G>T | CA3498837 | SH3TC2 | c.3050C>A c.3154C>A (p.Arg1052=) c.*2438C>A (n.*2438C>A) c.*2805C>A (n.*2805C>A) c.*2542C>A (n.*2542C>A) c.2684C>A (n.2684C>A) c.2204C>A c.3133C>A (p.Arg1045=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149012634G>A | CA349022 | SH3TC2 | c.3050C>T c.3154C>T (p.Arg1052Ter) c.*2438C>T (n.*2438C>T) c.*2805C>T (n.*2805C>T) c.*2542C>T (n.*2542C>T) c.2684C>T (n.2684C>T) c.2204C>T c.3133C>T (p.Arg1045Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |