| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.73909130C>A | CA289148 | ACTG2 | c.442C>A (p.Arg148Ser) c.313C>A (p.Arg105Ser) c.*197C>A (n.*197C>A) c.*507C>A (n.*507C>A) | ClinVar dbSNP |
| 2 | g.73909130C>T | CA347303262 | ACTG2 | c.442C>T (p.Arg148Cys) c.313C>T (p.Arg105Cys) c.*197C>T (n.*197C>T) c.*507C>T (n.*507C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.73909130C= | CA1261178770 | ACTG2 | c.442C= (p.Arg148=) c.313C= (p.Arg105=) c.*197C= (n.*197C=) c.*507C= (n.*507C=) | dbSNP |