Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47403372C>T | CA019387 | MSH2 | c.181C>T (p.Gln61Ter) c.-18C>T (n.-18C>T) n.253C>T n.243C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47403372C>A | CA346729009 | MSH2 | c.181C>A (p.Gln61Lys) c.-18C>A (n.-18C>A) n.253C>A n.243C>A | dbSNP gnomAD v4 |
2 | g.47403372C>G | CA16610991 | MSH2 | c.181C>G (p.Gln61Glu) c.-18C>G (n.-18C>G) n.253C>G n.243C>G | ClinVar dbSNP |