| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.40091349G>A | CA263506 | PPT1 | c.*249C>T (n.*249C>T) c.410C>T (p.Ser137Leu) c.413C>T (p.Ser138Leu) c.125-1837C>T (n.125-1837C>T) c.693C>T c.285C>T (p.Leu95=) c.391C>T n.650C>T c.25C>T c.500C>T (p.Ser167Leu) c.*265C>T (n.*265C>T) c.124+5766C>T (n.124+5766C>T) c.98C>T (p.Ser33Leu) c.263C>T (p.Ser88Leu) c.188C>T (p.Ser63Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.40091349G>C | CA339848835 | PPT1 | c.*249C>G (n.*249C>G) c.410C>G (p.Ser137Trp) c.413C>G (p.Ser138Trp) c.125-1837C>G (n.125-1837C>G) c.693C>G c.285C>G (p.Leu95=) c.391C>G n.650C>G c.25C>G c.500C>G (p.Ser167Trp) c.*265C>G (n.*265C>G) c.124+5766C>G (n.124+5766C>G) c.98C>G (p.Ser33Trp) c.263C>G (p.Ser88Trp) c.188C>G (p.Ser63Trp) | dbSNP |
| 1 | g.40091349G= | CA1144228730 | PPT1 | c.*249C= (n.*249C=) c.410C= (p.Ser137=) c.413C= (p.Ser138=) c.125-1837C= (n.125-1837C=) c.693C= c.285C= (p.Leu95=) c.391C= n.650C= c.25C= c.500C= (p.Ser167=) c.*265C= (n.*265C=) c.124+5766C= (n.124+5766C=) c.98C= (p.Ser33=) c.263C= (p.Ser88=) c.188C= (p.Ser63=) | dbSNP |