| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.100292976C>T | CA121811 | INVS | c.2719C>T (p.Arg907Ter) c.2209C>T (p.Arg737Ter) n.3028C>T c.2431C>T (p.Arg811Ter) c.2398C>T (p.Arg800Ter) c.1921C>T (p.Arg641Ter) c.1741C>T (p.Arg581Ter) n.2902C>T n.2926C>T n.2416C>T n.2868C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.100292976C>G | CA196896138 | INVS | c.2719C>G (p.Arg907Gly) c.2209C>G (p.Arg737Gly) n.3028C>G c.2431C>G (p.Arg811Gly) c.2398C>G (p.Arg800Gly) c.1921C>G (p.Arg641Gly) c.1741C>G (p.Arg581Gly) n.2902C>G n.2926C>G n.2416C>G n.2868C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.100292976C>A | CA5158681 | INVS | c.2719C>A (p.Arg907=) c.2209C>A (p.Arg737=) n.3028C>A c.2431C>A (p.Arg811=) c.2398C>A (p.Arg800=) c.1921C>A (p.Arg641=) c.1741C>A (p.Arg581=) n.2902C>A n.2926C>A n.2416C>A n.2868C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |