| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.133759306G>A | CA122573 | TF | c.1180G>A (p.Glu394Lys) c.1048G>A (p.Glu350Lys) c.799G>A (p.Glu267Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.133759306G>T | CA354606394 | TF | c.1180G>T (p.Glu394Ter) c.1048G>T (p.Glu350Ter) c.799G>T (p.Glu267Ter) | dbSNP gnomAD v4 COSMIC |
| 3 | g.133759306G= | CA1403110531 | TF | c.1180G= (p.Glu394=) c.1048G= (p.Glu350=) c.799G= (p.Glu267=) | dbSNP |