| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50624781T>C | CA640051367 | ARSA | c.*364A>G (n.*364A>G) c.180+582A>G | gnomAD v2 |
| 22 | g.50624782G>C | CA1026679921 | ARSA | c.*363C>G (n.*363C>G) c.180+581C>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624782G= | CA2410958147 | ARSA | c.*363C= (n.*363C=) c.180+581C= | |
| 22 | g.50624783A>G | CA2738228866 | ARSA | c.*362T>C (n.*362T>C) c.180+580T>C | dbSNP |
| 22 | g.50624788A= | CA2410958148 | ARSA | c.*357T= (n.*357T=) c.180+575T= | |
| 22 | g.50624788A>T | CA2410958149 | ARSA | c.*357T>A (n.*357T>A) c.180+575T>A | dbSNP |
| 22 | g.50624792G>A | CA640051368 | ARSA | c.*353C>T (n.*353C>T) c.180+571C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624792G= | CA2410958150 | ARSA | c.*353C= (n.*353C=) c.180+571C= | |
| 22 | g.50624793C= | CA2410958151 | ARSA | c.*352G= (n.*352G=) c.180+570G= | |
| 22 | g.50624793C>T | CA754066957 | ARSA | c.*352G>A (n.*352G>A) c.180+570G>A | dbSNP |
| 22 | g.50624794C= | CA2410958152 | ARSA | c.*351G= (n.*351G=) c.180+569G= | |
| 22 | g.50624794C>T | CA2410958153 | ARSA | c.*351G>A (n.*351G>A) c.180+569G>A | dbSNP |
| 22 | g.50624796A= | CA2410958154 | ARSA | c.*349T= (n.*349T=) c.180+567T= | |
| 22 | g.50624796A>G | CA2410958155 | ARSA | c.*349T>C (n.*349T>C) c.180+567T>C | dbSNP |
| 22 | g.50624797T>C | CA754066958 | ARSA | c.*348A>G (n.*348A>G) c.180+566A>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624797T= | CA2410958156 | ARSA | c.*348A= (n.*348A=) c.180+566A= | |
| 22 | g.50624798G>C | CA2410958158 | ARSA | c.*347C>G (n.*347C>G) c.180+565C>G | dbSNP |
| 22 | g.50624798G= | CA2410958157 | ARSA | c.*347C= (n.*347C=) c.180+565C= | |
| 22 | g.50624803T>C | CA10645792 | ARSA | c.*342A>G (n.*342A>G) c.180+560A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624803T= | CA2410958159 | ARSA | c.*342A= (n.*342A=) c.180+560A= | |
| 22 | g.50624805A= | CA2410958160 | ARSA | c.*340T= (n.*340T=) c.180+558T= | |
| 22 | g.50624805A>C | CA325531043 | ARSA | c.*340T>G (n.*340T>G) c.180+558T>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624805A>T | CA10653699 | ARSA | c.*340T>A (n.*340T>A) c.180+558T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624812C= | CA2410958161 | ARSA | c.*333G= (n.*333G=) c.180+551G= | |
| 22 | g.50624812C>T | CA325531045 | ARSA | c.*333G>A (n.*333G>A) c.180+551G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624813G>A | CA10651569 | ARSA | c.*332C>T (n.*332C>T) c.180+550C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624813G= | CA2410958162 | ARSA | c.*332C= (n.*332C=) c.180+550C= | |
| 22 | g.50624817G>A | CA325531047 | ARSA | c.*328C>T (n.*328C>T) c.180+546C>T | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624817G= | CA2410958163 | ARSA | c.*328C= (n.*328C=) c.180+546C= | |
| 22 | g.50624818C= | CA2410958165 | ARSA | c.*327G= (n.*327G=) c.180+545G= | |
| 22 | g.50624818C>G | CA2410958164 | ARSA | c.*327G>C (n.*327G>C) c.180+545G>C | dbSNP |
| 22 | g.50624819C= | CA2410958166 | ARSA | c.*326G= (n.*326G=) c.180+544G= | |
| 22 | g.50624819C>G | CA325531050 | ARSA | c.*326G>C (n.*326G>C) c.180+544G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624820T>C | CA2410958168 | ARSA | c.*325A>G (n.*325A>G) c.180+543A>G | dbSNP |
| 22 | g.50624820T= | CA2410958167 | ARSA | c.*325A= (n.*325A=) c.180+543A= | |
| 22 | g.50624822T>C | CA325531052 | ARSA | c.*323A>G (n.*323A>G) c.180+541A>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624822T= | CA2410958169 | ARSA | c.*323A= (n.*323A=) c.180+541A= | |
| 22 | g.50624829T>A | CA640051369 | ARSA | c.*316A>T (n.*316A>T) c.180+534A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624829T= | CA2410958170 | ARSA | c.*316A= (n.*316A=) c.180+534A= | |
| 22 | g.50624830G= | CA2410958171 | ARSA | c.*315C= (n.*315C=) c.180+533C= | |
| 22 | g.50624830G>T | CA2410958172 | ARSA | c.*315C>A (n.*315C>A) c.180+533C>A | dbSNP |
| 22 | g.50624833C>A | CA2410958174 | ARSA | c.*312G>T (n.*312G>T) c.180+530G>T | dbSNP |
| 22 | g.50624833C= | CA2410958173 | ARSA | c.*312G= (n.*312G=) c.180+530G= | |
| 22 | g.50624834C>A | CA2410958176 | ARSA | c.*311G>T (n.*311G>T) c.180+529G>T | dbSNP |
| 22 | g.50624834C= | CA2410958175 | ARSA | c.*311G= (n.*311G=) c.180+529G= | |
| 22 | g.50624836C= | CA2410958177 | ARSA | c.*309G= (n.*309G=) c.180+527G= | |
| 22 | g.50624836C>T | CA325531053 | ARSA | c.*309G>A (n.*309G>A) c.180+527G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624837G>A | CA325531055 | ARSA | c.*308C>T (n.*308C>T) c.180+526C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624837G= | CA2410958178 | ARSA | c.*308C= (n.*308C=) c.180+526C= | |
| 22 | g.50624838_50624839delinsCA | CA2410958179 | ARSA | c.*306_*307delinsTG (n.*306_*307delinsTG) c.180+524_180+525delinsTG |