| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.107650000G>T | CA270662 | PRPS1 | c.826G>T (p.Val276Phe) c.308G>T c.925G>T (p.Val309Phe) c.802-578G>T (n.802-578G>T) c.*394G>T (n.*394G>T) c.*618G>T (n.*618G>T) c.61G>T (p.Val21Phe) c.517G>T c.22-616G>T c.*53G>T (n.*53G>T) c.493G>T c.625G>T (p.Val209Phe) c.313G>T (p.Val105Phe) | ClinVar dbSNP |
| X | g.107650000G= | CA2450376215 | PRPS1 | c.826G= (p.Val276=) c.308G= c.925G= (p.Val309=) c.802-578G= (n.802-578G=) c.*394G= (n.*394G=) c.*618G= (n.*618G=) c.61G= (p.Val21=) c.517G= c.22-616G= c.*53G= (n.*53G=) c.493G= c.625G= (p.Val209=) c.313G= (p.Val105=) | dbSNP |
| X | g.107650000G>A | CA413816587 | PRPS1 | c.826G>A (p.Val276Ile) c.308G>A c.925G>A (p.Val309Ile) c.802-578G>A (n.802-578G>A) c.*394G>A (n.*394G>A) c.*618G>A (n.*618G>A) c.61G>A (p.Val21Ile) c.517G>A c.22-616G>A c.*53G>A (n.*53G>A) c.493G>A c.625G>A (p.Val209Ile) c.313G>A (p.Val105Ile) | ClinVar dbSNP gnomAD v4 |