| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.62147021T>C | CA402601620 | PIGN | c.755A>G (p.Asp252Gly) n.218A>G c.518A>G c.524A>G (p.Asp175Gly) n.734A>G n.996A>G c.563A>G (p.Asp188Gly) c.285A>G c.*115A>G (n.*115A>G) n.206A>G c.149A>G | ClinVar dbSNP gnomAD v4 |
| 18 | g.62147021T>A | CA10587984 | PIGN | c.755A>T (p.Asp252Val) n.218A>T c.518A>T c.524A>T (p.Asp175Val) n.734A>T n.996A>T c.563A>T (p.Asp188Val) c.285A>T c.*115A>T (n.*115A>T) n.206A>T c.149A>T | ClinVar dbSNP |