| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625049T>C | CA115953 | ARSA | c.*96A>G (n.*96A>G) c.180+314A>G c.*359A>G (n.*359A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625049T= | CA2410958280 | ARSA | c.*96A= (n.*96A=) c.180+314A= c.*359A= (n.*359A=) | dbSNP |
| 22 | g.50625049T>A | CA2580610110 | ARSA | c.*96A>T (n.*96A>T) c.180+314A>T c.*359A>T (n.*359A>T) | dbSNP |
| 22 | g.50625049T>G | CA2580610111 | ARSA | c.*96A>C (n.*96A>C) c.180+314A>C c.*359A>C (n.*359A>C) | dbSNP |