| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.56565363C>A | CA259703 | UBQLN2 | c.1490C>A (p.Pro497His) c.273+1623C>A (n.273+1623C>A) | ClinVar dbSNP |
| X | g.56565363C>G | CA413380674 | UBQLN2 | c.1490C>G (p.Pro497Arg) c.273+1623C>G (n.273+1623C>G) | ClinVar dbSNP |
| X | g.56565363C>T | CA270965 | UBQLN2 | c.1490C>T (p.Pro497Leu) c.273+1623C>T (n.273+1623C>T) | ClinVar dbSNP |