Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.32459452T>G | CA5019503 | RIGI | c.2265A>C (p.Val755=) c.2400A>C (p.Val800=) c.2187A>C (p.Val729=) c.*1823A>C (n.*1823A>C) c.900A>C (p.Val300=) c.*2168A>C (n.*2168A>C) n.1932A>C c.2250A>C (p.Val750=) c.1791A>C (p.Val597=) c.2394A>C (p.Val798=) c.2229A>C (p.Val743=) c.1959A>C (p.Val653=) c.2385A>C (p.Val795=) c.1956A>C (p.Val652=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.32459452T>A | CA464278570 | RIGI | c.2265A>T (p.Val755=) c.2400A>T (p.Val800=) c.2187A>T (p.Val729=) c.*1823A>T (n.*1823A>T) c.900A>T (p.Val300=) c.*2168A>T (n.*2168A>T) n.1932A>T c.2250A>T (p.Val750=) c.1791A>T (p.Val597=) c.2394A>T (p.Val798=) c.2229A>T (p.Val743=) c.1959A>T (p.Val653=) c.2385A>T (p.Val795=) c.1956A>T (p.Val652=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.32459452T>C | CA464278571 | RIGI | c.2265A>G (p.Val755=) c.2400A>G (p.Val800=) c.2187A>G (p.Val729=) c.*1823A>G (n.*1823A>G) c.900A>G (p.Val300=) c.*2168A>G (n.*2168A>G) n.1932A>G c.2250A>G (p.Val750=) c.1791A>G (p.Val597=) c.2394A>G (p.Val798=) c.2229A>G (p.Val743=) c.1959A>G (p.Val653=) c.2385A>G (p.Val795=) c.1956A>G (p.Val652=) | dbSNP |