| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.43124887C>G | CA376558033 | RET | c.2548C>G (p.Arg850Gly) n.2518C>G c.2944C>G (p.Arg982Gly) c.*1538C>G (n.*1538C>G) c.*293C>G (n.*293C>G) c.2182C>G (p.Arg728Gly) | dbSNP |
| 10 | g.43124887C>T | CA009143 | RET | c.2548C>T (p.Arg850Cys) n.2518C>T c.2944C>T (p.Arg982Cys) c.*1538C>T (n.*1538C>T) c.*293C>T (n.*293C>T) c.2182C>T (p.Arg728Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 10 | g.43124887C>A | CA376558032 | RET | c.2548C>A (p.Arg850Ser) n.2518C>A c.2944C>A (p.Arg982Ser) c.*1538C>A (n.*1538C>A) c.*293C>A (n.*293C>A) c.2182C>A (p.Arg728Ser) | ClinVar dbSNP gnomAD v4 |
| 10 | g.43124887C= | CA1905826312 | RET | c.2548C= (p.Arg850=) n.2518C= c.2944C= (p.Arg982=) c.*1538C= (n.*1538C=) c.*293C= (n.*293C=) c.2182C= (p.Arg728=) | dbSNP |