| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47412483C>T | CA022086 | MSH2 | c.715C>T (p.Gln239Ter) c.517C>T (p.Gln173Ter) n.787C>T n.777C>T | ClinVar dbSNP |
| 2 | g.47412483C>G | CA16610793 | MSH2 | c.715C>G (p.Gln239Glu) c.517C>G (p.Gln173Glu) n.787C>G n.777C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47412483C= | CA2495832726 | MSH2 | c.715C= (p.Gln239=) c.517C= (p.Gln173=) n.787C= n.777C= | dbSNP dbSNP |