| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.89247603T>G | CA201516 | LIPA | c.46A>C (p.Thr16Pro) c.62-19205A>C (n.62-19205A>C) c.-120+4134A>C (n.-120+4134A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.89247603T>A | CA377518577 | LIPA | c.46A>T (p.Thr16Ser) c.62-19205A>T (n.62-19205A>T) c.-120+4134A>T (n.-120+4134A>T) | dbSNP |