| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.40395495G>A | CA117076 | PRX | c.2857C>T (p.Arg953Ter) c.2440C>T (p.Arg814Ter) c.3142C>T (p.Arg1048Ter) c.2732C>T c.2718C>T c.2819C>T c.2744C>T c.*3062C>T (n.*3062C>T) c.2755C>T (p.Arg919Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40395495G>C | CA405895437 | PRX | c.2857C>G (p.Arg953Gly) c.2440C>G (p.Arg814Gly) c.3142C>G (p.Arg1048Gly) c.2732C>G c.2718C>G c.2819C>G c.2744C>G c.*3062C>G (n.*3062C>G) c.2755C>G (p.Arg919Gly) | dbSNP |
| 19 | g.40395495G= | CA2335961188 | PRX | c.2857C= (p.Arg953=) c.2440C= (p.Arg814=) c.3142C= (p.Arg1048=) c.2732C= c.2718C= c.2819C= c.2744C= c.*3062C= (n.*3062C=) c.2755C= (p.Arg919=) | dbSNP |