| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.40091398T>A | CA316952 | PPT1 | c.*200A>T (n.*200A>T) c.361A>T (p.Arg121Trp) c.364A>T (p.Arg122Trp) c.125-1886A>T (n.125-1886A>T) c.644A>T c.236A>T (p.Glu79Val) c.342A>T n.601A>T c.451A>T (p.Arg151Trp) c.*216A>T (n.*216A>T) c.124+5717A>T (n.124+5717A>T) c.49A>T (p.Arg17Trp) c.214A>T (p.Arg72Trp) c.139A>T (p.Arg47Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40091398T= | CA1141580723 | PPT1 | c.*200A= (n.*200A=) c.361A= (p.Arg121=) c.364A= (p.Arg122=) c.125-1886A= (n.125-1886A=) c.644A= c.236A= (p.Glu79=) c.342A= n.601A= c.451A= (p.Arg151=) c.*216A= (n.*216A=) c.124+5717A= (n.124+5717A=) c.49A= (p.Arg17=) c.214A= (p.Arg72=) c.139A= (p.Arg47=) | dbSNP |