| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.37050645A>T | CA009285 | MLH1 | c.1827A>T (p.Arg609Ser) c.1969A>T (p.Arg657Trp) c.2056A>T (p.Arg686Trp) c.1540A>T (p.Arg514Trp) c.2170A>T (p.Arg724Trp) c.2098A>T (p.Arg700Trp) c.2263A>T (p.Arg755Trp) c.*1181A>T (n.*1181A>T) c.*2095A>T (n.*2095A>T) c.*1374A>T (n.*1374A>T) c.1207A>T (p.Arg403Trp) c.2051A>T n.1297A>T n.1645A>T c.*2055A>T (n.*2055A>T) c.1531A>T (p.Arg511Trp) c.*2403A>T (n.*2403A>T) c.*2141A>T (n.*2141A>T) c.*492A>T (n.*492A>T) n.974A>T c.2031A>T c.1240A>T (p.Arg414Trp) c.1189A>T (p.Arg397Trp) c.2164A>T (p.Arg722Trp) | dbSNP |
| 3 | g.37050645A>G | CA350722 | MLH1 | c.1827A>G (p.Arg609=) c.1969A>G (p.Arg657Gly) c.2056A>G (p.Arg686Gly) c.1540A>G (p.Arg514Gly) c.2170A>G (p.Arg724Gly) c.2098A>G (p.Arg700Gly) c.2263A>G (p.Arg755Gly) c.*1181A>G (n.*1181A>G) c.*2095A>G (n.*2095A>G) c.*1374A>G (n.*1374A>G) c.1207A>G (p.Arg403Gly) c.2051A>G n.1297A>G n.1645A>G c.*2055A>G (n.*2055A>G) c.1531A>G (p.Arg511Gly) c.*2403A>G (n.*2403A>G) c.*2141A>G (n.*2141A>G) c.*492A>G (n.*492A>G) n.974A>G c.2031A>G c.1240A>G (p.Arg414Gly) c.1189A>G (p.Arg397Gly) c.2164A>G (p.Arg722Gly) | ClinVar dbSNP |