| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.3918717C>T | CA116923 | PANK2 | c.1253C>T (p.Thr418Met) c.1583C>T (p.Thr528Met) c.*594C>T (n.*594C>T) c.*883C>T (n.*883C>T) c.1080C>T c.275C>T (p.Thr92Met) c.710C>T (p.Thr237Met) c.1214C>T (p.Thr405Met) c.968C>T (p.Thr323Met) c.1406C>T (p.Thr469Met) n.1607C>T n.2371C>T n.1154C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.3918717C= | CA2346801105 | PANK2 | c.1253C= (p.Thr418=) c.1583C= (p.Thr528=) c.*594C= (n.*594C=) c.*883C= (n.*883C=) c.1080C= c.275C= (p.Thr92=) c.710C= (p.Thr237=) c.1214C= (p.Thr405=) c.968C= (p.Thr323=) c.1406C= (p.Thr469=) n.1607C= n.2371C= n.1154C= | dbSNP |
| 20 | g.3918717C>A | CA408120457 | PANK2 | c.1253C>A (p.Thr418Lys) c.1583C>A (p.Thr528Lys) c.*594C>A (n.*594C>A) c.*883C>A (n.*883C>A) c.1080C>A c.275C>A (p.Thr92Lys) c.710C>A (p.Thr237Lys) c.1214C>A (p.Thr405Lys) c.968C>A (p.Thr323Lys) c.1406C>A (p.Thr469Lys) n.1607C>A n.2371C>A n.1154C>A | dbSNP gnomAD v4 |
| 20 | g.3918717C>G | CA408120453 | PANK2 | c.1253C>G (p.Thr418Arg) c.1583C>G (p.Thr528Arg) c.*594C>G (n.*594C>G) c.*883C>G (n.*883C>G) c.1080C>G c.275C>G (p.Thr92Arg) c.710C>G (p.Thr237Arg) c.1214C>G (p.Thr405Arg) c.968C>G (p.Thr323Arg) c.1406C>G (p.Thr469Arg) n.1607C>G n.2371C>G n.1154C>G | ClinVar dbSNP |