| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 22 | g.50624995G>A | CA657868291 | ARSA | c.*150C>T (p.=) | COSMIC |
| 22 | g.50625002C>G | CA640051376 | ARSA | c.*143G>C (p.=) | gnomAD |
| 22 | g.50625004C>A | CA754067066 | ARSA | c.*141G>T (p.=) | |
| 22 | g.50625006G>A | CA640051377 | ARSA | c.*139C>T (p.=) | gnomAD |
| 22 | g.50625006G>C | CA1026680021 | ARSA | c.*139C>G (p.=) | |
| 22 | g.50625011G>A | CA754067073 | ARSA | c.*134C>T (p.=) | |
| 22 | g.50625014C>T | CA325531099 | ARSA | c.*131G>A (p.=) | dbSNP gnomAD |
| 22 | g.50625015G>A | CA1026680030 | ARSA | c.*130C>T (p.=) | |
| 22 | g.50625015G>T | CA10645794 | ARSA | c.*130C>A (p.=) | ClinVar dbSNP dbSNP |
| 22 | g.50625018T>A | CA325531102 | ARSA | c.*127A>T (p.=) | ClinVar dbSNP gnomAD |
| 22 | g.50625018T>C | CA754067086 | ARSA | c.*127A>G (p.=) | |
| 22 | g.50625020G>C | CA10654224 | ARSA | c.*125C>G (p.=) | ClinVar dbSNP |
| 22 | g.50625023A>C | CA325531105 | ARSA | c.*122T>G (p.=) c.*385T>G (p.=) | dbSNP gnomAD |