| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47410107A>T | CA021096 | MSH2 | c.380A>T (p.Asn127Ile) c.182A>T (p.Asn61Ile) n.452A>T n.442A>T | dbSNP |
| 2 | g.47410107A>C | CA346730352 | MSH2 | c.380A>C (p.Asn127Thr) c.182A>C (p.Asn61Thr) n.452A>C n.442A>C | ClinVar dbSNP |
| 2 | g.47410107A>G | CA021092 | MSH2 | c.380A>G (p.Asn127Ser) c.182A>G (p.Asn61Ser) n.452A>G n.442A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |