| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.29813802C>T | CA130523 | PRRT2 | c.748C>T (p.Gln250Ter) c.339+409C>T (n.339+409C>T) c.724+24C>T (n.724+24C>T) c.*63C>T (n.*63C>T) c.721+27C>T (n.721+27C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.29813802C= | CA2216294225 | PRRT2 | c.748C= (p.Gln250=) c.339+409C= (n.339+409C=) c.724+24C= (n.724+24C=) c.*63C= (n.*63C=) c.721+27C= (n.721+27C=) | dbSNP |