Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.170965956C>G | CA1963438 | GORASP2 | c.1185C>G (p.Ser395=) c.*1217C>G (n.*1217C>G) n.1451C>G c.981C>G (p.Ser327=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.170965956C>T | CA1963437 | GORASP2 | c.1185C>T (p.Ser395=) c.*1217C>T (n.*1217C>T) n.1451C>T c.981C>T (p.Ser327=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |