| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.46402388G>T | CA251076 | PCNT | c.5053G>T (p.Glu1685Ter) c.*4263G>T (n.*4263G>T) c.5020G>T (p.Glu1674Ter) n.5289G>T c.4666G>T (p.Glu1556Ter) c.5131G>T (p.Glu1711Ter) c.5101G>T (p.Glu1701Ter) c.4699G>T (p.Glu1567Ter) c.3937G>T (p.Glu1313Ter) c.2833G>T (p.Glu945Ter) | ClinVar dbSNP |
| 21 | g.46402388G>A | CA410581835 | PCNT | c.5053G>A (p.Glu1685Lys) c.*4263G>A (n.*4263G>A) c.5020G>A (p.Glu1674Lys) n.5289G>A c.4666G>A (p.Glu1556Lys) c.5131G>A (p.Glu1711Lys) c.5101G>A (p.Glu1701Lys) c.4699G>A (p.Glu1567Lys) c.3937G>A (p.Glu1313Lys) c.2833G>A (p.Glu945Lys) | dbSNP |