| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.29814403G>A | CA129726 | PRRT2 | c.950G>A (p.Ser317Asn) c.410G>A (p.Ser137Asn) c.*126G>A (n.*126G>A) c.795G>A (p.Lys265=) c.*265G>A (n.*265G>A) c.792G>A (p.Lys264=) c.399G>A (p.Lys133=) c.*449G>A (n.*449G>A) c.939G>A (p.Lys313=) | ClinVar dbSNP |
| 16 | g.29814403G= | CA2216294530 | PRRT2 | c.950G= (p.Ser317=) c.410G= (p.Ser137=) c.*126G= (n.*126G=) c.795G= (p.Lys265=) c.*265G= (n.*265G=) c.792G= (p.Lys264=) c.399G= (p.Lys133=) c.*449G= (n.*449G=) c.939G= (p.Lys313=) | dbSNP |