| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.6451926A>C | CA116849 | ESPN | c.185A>C c.457A>C (p.Ser153Arg) c.223A>C (p.Ser75Arg) c.210A>C c.2155A>C (p.Ser719Arg) c.280A>C (p.Ser94Arg) c.220A>C (p.Ser74Arg) n.337A>C n.210A>C c.304A>C (p.Ser102Arg) c.2092A>C (p.Ser698Arg) c.2065A>C (p.Ser689Arg) c.1696A>C (p.Ser566Arg) c.1033A>C (p.Ser345Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.6451926A>G | CA338099445 | ESPN | c.185A>G c.457A>G (p.Ser153Gly) c.223A>G (p.Ser75Gly) c.210A>G c.2155A>G (p.Ser719Gly) c.280A>G (p.Ser94Gly) c.220A>G (p.Ser74Gly) n.337A>G n.210A>G c.304A>G (p.Ser102Gly) c.2092A>G (p.Ser698Gly) c.2065A>G (p.Ser689Gly) c.1696A>G (p.Ser566Gly) c.1033A>G (p.Ser345Gly) | dbSNP gnomAD v4 |
| 1 | g.6451926A= | CA1141580550 | ESPN | c.185A= c.457A= (p.Ser153=) c.223A= (p.Ser75=) c.210A= c.2155A= (p.Ser719=) c.280A= (p.Ser94=) c.220A= (p.Ser74=) n.337A= n.210A= c.304A= (p.Ser102=) c.2092A= (p.Ser698=) c.2065A= (p.Ser689=) c.1696A= (p.Ser566=) c.1033A= (p.Ser345=) | dbSNP |