| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.56565389C>A | CA259707 | UBQLN2 | c.1516C>A (p.Pro506Thr) c.273+1649C>A (n.273+1649C>A) | ClinVar dbSNP |
| X | g.56565389C>T | CA413380724 | UBQLN2 | c.1516C>T (p.Pro506Ser) c.273+1649C>T (n.273+1649C>T) | ClinVar dbSNP gnomAD v2 |
| X | g.56565389C= | CA2431031083 | UBQLN2 | c.1516C= (p.Pro506=) c.273+1649C= (n.273+1649C=) | dbSNP |