| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.31762148C>T | CA3721603 | MSH5,MSH5-SAPCD1 | c.2356C>T (p.Pro786Ser) n.2783C>T c.2359C>T (p.Pro787Ser) c.2320C>T (p.Pro774Ser) c.1378C>T (p.Pro460Ser) c.*344C>T (n.*344C>T) c.322C>T (p.Pro108Ser) c.2043C>T c.563C>T (n.563C>T) n.424C>T c.2407C>T (p.Pro803Ser) n.226C>T c.907C>T n.2535C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.31762148C= | CA1619295560 | MSH5,MSH5-SAPCD1 | c.2356C= (p.Pro786=) n.2783C= c.2359C= (p.Pro787=) c.2320C= (p.Pro774=) c.1378C= (p.Pro460=) c.*344C= (n.*344C=) c.322C= (p.Pro108=) c.2043C= c.563C= (n.563C=) n.424C= c.2407C= (p.Pro803=) n.226C= c.907C= n.2535C= | dbSNP |