Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.219473732C>T | CA170642 | SPEG | c.4276C>T (p.Arg1426Ter) n.1513C>T n.3519C>T c.3994C>T (p.Arg1332Ter) c.1900C>T (p.Arg634Ter) c.1729C>T (p.Arg577Ter) c.1915C>T (p.Arg639Ter) c.3964C>T (p.Arg1322Ter) c.4306C>T (p.Arg1436Ter) c.4129C>T (p.Arg1377Ter) c.4123C>T (p.Arg1375Ter) c.4045C>T (p.Arg1349Ter) c.3961C>T (p.Arg1321Ter) c.4024C>T (p.Arg1342Ter) c.-706C>T (n.-706C>T) n.3568C>T | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.219473732C>G | CA350677012 | SPEG | c.4276C>G (p.Arg1426Gly) n.1513C>G n.3519C>G c.3994C>G (p.Arg1332Gly) c.1900C>G (p.Arg634Gly) c.1729C>G (p.Arg577Gly) c.1915C>G (p.Arg639Gly) c.3964C>G (p.Arg1322Gly) c.4306C>G (p.Arg1436Gly) c.4129C>G (p.Arg1377Gly) c.4123C>G (p.Arg1375Gly) c.4045C>G (p.Arg1349Gly) c.3961C>G (p.Arg1321Gly) c.4024C>G (p.Arg1342Gly) c.-706C>G (n.-706C>G) n.3568C>G | ClinVar dbSNP gnomAD v2 |