| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.56565446C>G | CA10430192 | UBQLN2 | c.1573C>G (p.Pro525Ala) c.273+1706C>G (n.273+1706C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.56565446C>T | CA259711 | UBQLN2 | c.1573C>T (p.Pro525Ser) c.273+1706C>T (n.273+1706C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.56565446C>A | CA10430193 | UBQLN2 | c.1573C>A (p.Pro525Thr) c.273+1706C>A (n.273+1706C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |