| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47403192A>G | CA019692 | MSH2 | c.1A>G (p.Met1Val) c.-31+17A>G (n.-31+17A>G) n.73A>G n.63A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.47403192A>C | CA019685 | MSH2 | c.1A>C (p.Met1Leu) c.-31+17A>C (n.-31+17A>C) n.73A>C n.63A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47403192A>T | CA019697 | MSH2 | c.1A>T (p.Met1Leu) c.-31+17A>T (n.-31+17A>T) n.73A>T n.63A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |