| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.144399847C>G | CA4544662 | NOBOX | c.161G>C (p.Arg54Pro) c.713G>C (p.Arg238Pro) c.1064G>C (p.Arg355Pro) c.968G>C (p.Arg323Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.144399847C>T | CA114740 | NOBOX | c.161G>A (p.Arg54His) c.713G>A (p.Arg238His) c.1064G>A (p.Arg355His) c.968G>A (p.Arg323His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.144399847C= | CA1749270125 | NOBOX | c.161G= (p.Arg54=) c.713G= (p.Arg238=) c.1064G= (p.Arg355=) c.968G= (p.Arg323=) | dbSNP |