| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50624894C>A | CA754067022 | ARSA | c.*251G>T (p.=) | |
| 22 | g.50624894C>T | CA325531069 | ARSA | c.*251G>A (p.=) | dbSNP |
| 22 | g.50624898C>G | CA754067030 | ARSA | c.*247G>C (p.=) | |
| 22 | g.50624901A>G | CA325531070 | ARSA | c.*244T>C (p.=) | dbSNP |
| 22 | g.50624902C>T | CA1026679981 | ARSA | c.*243G>A (p.=) | |
| 22 | g.50624905C>T | CA325531071 | ARSA | c.*240G>A (p.=) | dbSNP |
| 22 | g.50624909C>A | CA1026679988 | ARSA | c.*236G>T (p.=) | |
| 22 | g.50624909C>T | CA325531073 | ARSA | c.*236G>A (p.=) | dbSNP gnomAD |
| 22 | g.50624911_50624915del | CA754067036 | ARSA | c.*228_*232del (p.=) | dbSNP |
| 22 | g.50624913C>G | CA325531075 | ARSA | c.*232G>C (p.=) | dbSNP |
| 22 | g.50624916G>A | CA754067039 | ARSA | c.*229C>T (p.=) | |
| 22 | g.50624917G>C | CA640051373 | ARSA | c.*228C>G (p.=) | gnomAD |
| 22 | g.50624928C>G | CA754067040 | ARSA | c.*217G>C (p.=) | |
| 22 | g.50624933C>T | CA325531076 | ARSA | c.*212G>A (p.=) | dbSNP |
| 22 | g.50624944C>T | CA1026679997 | ARSA | c.*201G>A (p.=) | |
| 22 | g.50624945T>A | CA754067042 | ARSA | c.*200A>T (p.=) | |
| 22 | g.50624949C>T | CA325531078 | ARSA | c.*196G>A (p.=) | dbSNP gnomAD |
| 22 | g.50624950C>T | CA325531080 | ARSA | c.*195G>A (p.=) | dbSNP |
| 22 | g.50624954G>C | CA10654223 | ARSA | c.*191C>G (p.=) | ClinVar dbSNP gnomAD |
| 22 | g.50624965C>T | CA640051374 | ARSA | c.*180G>A (p.=) | gnomAD |
| 22 | g.50624966_50624969dup | CA1026680005 | ARSA | c.*177_*180dup (p.=) | |
| 22 | g.50624966G>A | CA640051375 | ARSA | c.*179C>T (p.=) | gnomAD |
| 22 | g.50624973A>T | CA754067053 | ARSA | c.*172T>A (p.=) | |
| 22 | g.50624974G>A | CA754067054 | ARSA | c.*171C>T (p.=) | |
| 22 | g.50624980C>G | CA754067056 | ARSA | c.*165G>C (p.=) | |
| 22 | g.50624980C>T | CA325531083 | ARSA | c.*165G>A (p.=) | ClinVar dbSNP gnomAD |
| 22 | g.50624981G>A | CA325531086 | ARSA | c.*164C>T (p.=) | dbSNP |
| 22 | g.50624986C>T | CA325531092 | ARSA | c.*159G>A (p.=) | dbSNP |
| 22 | g.50624987A>G | CA325531094 | ARSA | c.*158T>C (p.=) | dbSNP |
| 22 | g.50624992A>G | CA325531097 | ARSA | c.*153T>C (p.=) | dbSNP |