| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127428587G>A | CA114399 | PROC | c.1027G>A (p.Gly343Ser) c.351G>A c.1129G>A (p.Gly377Ser) c.1210G>A (p.Gly404Ser) c.1192G>A (p.Gly398Ser) c.1090G>A (p.Gly364Ser) n.1332-323C>T c.1270G>A (p.Gly424Ser) c.1372G>A (p.Gly458Ser) c.1312G>A (p.Gly438Ser) n.3607-323C>T n.4043-323C>T c.1195G>A (p.Gly399Ser) c.1213G>A (p.Gly405Ser) c.970G>A (p.Gly324Ser) c.1003G>A (p.Gly335Ser) c.1021G>A (p.Gly341Ser) | ClinVar dbSNP |
| 2 | g.127428587G= | CA1286884538 | PROC | c.1027G= (p.Gly343=) c.351G= c.1129G= (p.Gly377=) c.1210G= (p.Gly404=) c.1192G= (p.Gly398=) c.1090G= (p.Gly364=) n.1332-323C= c.1270G= (p.Gly424=) c.1372G= (p.Gly458=) c.1312G= (p.Gly438=) n.3607-323C= n.4043-323C= c.1195G= (p.Gly399=) c.1213G= (p.Gly405=) c.970G= (p.Gly324=) c.1003G= (p.Gly335=) c.1021G= (p.Gly341=) | dbSNP |