| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.40089495G>T | CA417322676 | PPT1 | c.*287C>A (n.*287C>A) c.448C>A (p.Arg150=) c.451C>A (p.Arg151=) c.142C>A (p.Arg48=) c.731C>A c.305+1834C>A (n.305+1834C>A) c.*74C>A (n.*74C>A) c.429C>A n.688C>A c.63C>A c.538C>A (p.Arg180=) c.*303C>A (n.*303C>A) c.124+7620C>A (n.124+7620C>A) c.136C>A (p.Arg46=) c.226C>A (p.Arg76=) | dbSNP |
| 1 | g.40089495G>A | CA316936 | PPT1 | c.*287C>T (n.*287C>T) c.448C>T (p.Arg150Ter) c.451C>T (p.Arg151Ter) c.142C>T (p.Arg48Ter) c.731C>T c.305+1834C>T (n.305+1834C>T) c.*74C>T (n.*74C>T) c.429C>T n.688C>T c.63C>T c.538C>T (p.Arg180Ter) c.*303C>T (n.*303C>T) c.124+7620C>T (n.124+7620C>T) c.136C>T (p.Arg46Ter) c.226C>T (p.Arg76Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.40089495G>C | CA789686 | PPT1 | c.*287C>G (n.*287C>G) c.448C>G (p.Arg150Gly) c.451C>G (p.Arg151Gly) c.142C>G (p.Arg48Gly) c.731C>G c.305+1834C>G (n.305+1834C>G) c.*74C>G (n.*74C>G) c.429C>G n.688C>G c.63C>G c.538C>G (p.Arg180Gly) c.*303C>G (n.*303C>G) c.124+7620C>G (n.124+7620C>G) c.136C>G (p.Arg46Gly) c.226C>G (p.Arg76Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.40089495G= | CA1141580722 | PPT1 | c.*287C= (n.*287C=) c.448C= (p.Arg150=) c.451C= (p.Arg151=) c.142C= (p.Arg48=) c.731C= c.305+1834C= (n.305+1834C=) c.*74C= (n.*74C=) c.429C= n.688C= c.63C= c.538C= (p.Arg180=) c.*303C= (n.*303C=) c.124+7620C= (n.124+7620C=) c.136C= (p.Arg46=) c.226C= (p.Arg76=) | dbSNP |