| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.136327638A>G | CA341178 | PCCB | c.1304A>G (p.Tyr435Cys) c.1235A>G (p.Tyr412Cys) c.1364A>G (p.Tyr455Cys) c.1397A>G (p.Tyr466Cys) n.1505A>G n.828A>G c.885-6642A>G (n.885-6642A>G) c.956A>G (p.Tyr319Cys) c.1247A>G (p.Tyr416Cys) c.1203A>G (p.Leu401=) c.1133A>G (p.Tyr378Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.136327638A>T | CA354649276 | PCCB | c.1304A>T (p.Tyr435Phe) c.1235A>T (p.Tyr412Phe) c.1364A>T (p.Tyr455Phe) c.1397A>T (p.Tyr466Phe) n.1505A>T n.828A>T c.885-6642A>T (n.885-6642A>T) c.956A>T (p.Tyr319Phe) c.1247A>T (p.Tyr416Phe) c.1203A>T (p.Leu401=) c.1133A>T (p.Tyr378Phe) | dbSNP gnomAD v2 gnomAD v4 |