| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.70885854C>A | CA049198 | PCBD1,SGPL1 | c.571-7905C>A (n.571-7905C>A) c.79G>T (p.Glu27Ter) n.478G>T n.46G>T c.-69G>T (n.-69G>T) | ClinVar dbSNP |
| 10 | g.70885854C= | CA1918456477 | PCBD1,SGPL1 | c.571-7905C= (n.571-7905C=) c.79G= (p.Glu27=) n.478G= n.46G= c.-69G= (n.-69G=) | dbSNP |