Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47410319G>T | CA021507 | MSH2 | c.592G>T (p.Glu198Ter) c.394G>T (p.Glu132Ter) n.664G>T n.654G>T | ClinVar dbSNP |
2 | g.47410319G>A | CA021501 | MSH2 | c.592G>A (p.Glu198Lys) c.394G>A (p.Glu132Lys) n.664G>A n.654G>A | ClinVar dbSNP |
2 | g.47410319G>C | CA346731026 | MSH2 | c.592G>C (p.Glu198Gln) c.394G>C (p.Glu132Gln) n.664G>C n.654G>C | ClinVar dbSNP gnomAD v4 |