| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.40091364del | CA263502 | PPT1 | c.*234del (n.*234del) c.395del (p.Met132ArgfsTer4) c.398del (p.Met133ArgfsTer4) c.125-1852del (n.125-1852del) c.678del c.270del (p.His90GlnfsTer24) c.376del n.635del c.10del c.485del (p.Met162ArgfsTer4) c.*250del (n.*250del) c.124+5751del (n.124+5751del) c.83del (p.Met28ArgfsTer4) c.248del (p.Met83ArgfsTer4) c.173del (p.Met58ArgfsTer4) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.40091364A= | CA1144228731 | PPT1 | c.*234T= (n.*234T=) c.395T= (p.Met132=) c.398T= (p.Met133=) c.125-1852T= (n.125-1852T=) c.678T= c.270T= (p.His90=) c.376T= n.635T= c.10T= c.485T= (p.Met162=) c.*250T= (n.*250T=) c.124+5751T= (n.124+5751T=) c.83T= (p.Met28=) c.248T= (p.Met83=) c.173T= (p.Met58=) | dbSNP dbSNP |