| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.40089456G>A | CA263513 | PPT1 | c.*326C>T (n.*326C>T) c.487C>T (p.Arg163Ter) c.490C>T (p.Arg164Ter) c.181C>T (p.Arg61Ter) c.305+1873C>T (n.305+1873C>T) c.*113C>T (n.*113C>T) c.468C>T n.727C>T c.102C>T c.577C>T (p.Arg193Ter) c.*342C>T (n.*342C>T) c.124+7659C>T (n.124+7659C>T) c.175C>T (p.Arg59Ter) c.265C>T (p.Arg89Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.40089456G= | CA1144228726 | PPT1 | c.*326C= (n.*326C=) c.487C= (p.Arg163=) c.490C= (p.Arg164=) c.181C= (p.Arg61=) c.305+1873C= (n.305+1873C=) c.*113C= (n.*113C=) c.468C= n.727C= c.102C= c.577C= (p.Arg193=) c.*342C= (n.*342C=) c.124+7659C= (n.124+7659C=) c.175C= (p.Arg59=) c.265C= (p.Arg89=) | dbSNP |
| 1 | g.40089456G>C | CA339848646 | PPT1 | c.*326C>G (n.*326C>G) c.487C>G (p.Arg163Gly) c.490C>G (p.Arg164Gly) c.181C>G (p.Arg61Gly) c.305+1873C>G (n.305+1873C>G) c.*113C>G (n.*113C>G) c.468C>G n.727C>G c.102C>G c.577C>G (p.Arg193Gly) c.*342C>G (n.*342C>G) c.124+7659C>G (n.124+7659C>G) c.175C>G (p.Arg59Gly) c.265C>G (p.Arg89Gly) | dbSNP gnomAD v4 |