| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127428895C>G | CA114422 | PROC | c.1335C>G (p.Ile445Met) c.659C>G c.1437C>G (p.Ile479Met) c.1518C>G (p.Ile506Met) c.1500C>G (p.Ile500Met) c.1398C>G (p.Ile466Met) n.1332-631G>C c.1578C>G (p.Ile526Met) c.1680C>G (p.Ile560Met) c.1620C>G (p.Ile540Met) n.3607-631G>C n.4043-631G>C c.1503C>G (p.Ile501Met) c.1521C>G (p.Ile507Met) c.1278C>G (p.Ile426Met) c.1311C>G (p.Ile437Met) c.1329C>G (p.Ile443Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.127428895C>T | CA428873275 | PROC | c.1335C>T (p.Ile445=) c.659C>T c.1437C>T (p.Ile479=) c.1518C>T (p.Ile506=) c.1500C>T (p.Ile500=) c.1398C>T (p.Ile466=) n.1332-631G>A c.1578C>T (p.Ile526=) c.1680C>T (p.Ile560=) c.1620C>T (p.Ile540=) n.3607-631G>A n.4043-631G>A c.1503C>T (p.Ile501=) c.1521C>T (p.Ile507=) c.1278C>T (p.Ile426=) c.1311C>T (p.Ile437=) c.1329C>T (p.Ile443=) | ClinVar dbSNP |
| 2 | g.127428895C= | CA1286884706 | PROC | c.1335C= (p.Ile445=) c.659C= c.1437C= (p.Ile479=) c.1518C= (p.Ile506=) c.1500C= (p.Ile500=) c.1398C= (p.Ile466=) n.1332-631G= c.1578C= (p.Ile526=) c.1680C= (p.Ile560=) c.1620C= (p.Ile540=) n.3607-631G= n.4043-631G= c.1503C= (p.Ile501=) c.1521C= (p.Ile507=) c.1278C= (p.Ile426=) c.1311C= (p.Ile437=) c.1329C= (p.Ile443=) | dbSNP |