| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.1898251G>C | CA118556 | MAD1L1 | c.1947C>G (p.Tyr649Ter) c.*4707C>G (n.*4707C>G) c.1671C>G (p.Tyr557Ter) c.315C>G (p.Tyr105Ter) c.600C>G (p.Tyr200Ter) c.1806C>G (p.Tyr602Ter) c.1890C>G (p.Tyr630Ter) c.717C>G (p.Tyr239Ter) c.981C>G (p.Tyr327Ter) c.2139C>G (p.Tyr713Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.1898251G>A | CA453434411 | MAD1L1 | c.1947C>T (p.Tyr649=) c.*4707C>T (n.*4707C>T) c.1671C>T (p.Tyr557=) c.315C>T (p.Tyr105=) c.600C>T (p.Tyr200=) c.1806C>T (p.Tyr602=) c.1890C>T (p.Tyr630=) c.717C>T (p.Tyr239=) c.981C>T (p.Tyr327=) c.2139C>T (p.Tyr713=) | dbSNP |